3BHS2_HUMAN VAR_000006 E141K 3BHS2_HUMAN VAR_000007 L204P 3BHS2_HUMAN VAR_000008 A244P 3BHS2_HUMAN VAR_000009 Y252N 3BHS2_HUMAN VAR_000010 Y253D 3BHS2_HUMAN VAR_000011 T258R 3BHS2_HUMAN VAR_010517 A9E 3BHS2_HUMAN VAR_010518 A9V 3BHS2_HUMAN VAR_010519 G14D 3BHS2_HUMAN VAR_010520 A81T 3BHS2_HUMAN VAR_010521 N99S 3BHS2_HUMAN VAR_010522 L107W 3BHS2_HUMAN VAR_010523 G128R 3BHS2_HUMAN VAR_010524 P154L 3BHS2_HUMAN VAR_010525 A166V 3BHS2_HUMAN VAR_010526 L172R 3BHS2_HUMAN VAR_010527 P185L 3BHS2_HUMAN VAR_010528 S212G 3BHS2_HUMAN VAR_010529 K215E 3BHS2_HUMAN VAR_010530 P221H 3BHS2_HUMAN VAR_010531 P221Q 3BHS2_HUMAN VAR_010533 L235S 3BHS2_HUMAN VAR_010534 T258M 3BHS2_HUMAN VAR_010535 G293V 3BHS2_HUMAN VAR_015411 P221T 3BP2_HUMAN VAR_013257 R415P 3BP2_HUMAN VAR_013258 R415Q 3BP2_HUMAN VAR_013259 P418H 3BP2_HUMAN VAR_013260 P418L 3BP2_HUMAN VAR_013261 P418R 3BP2_HUMAN VAR_013262 G420E 3BP2_HUMAN VAR_013263 G420R 5NT3_HUMAN VAR_023511 D98V 5NT3_HUMAN VAR_023512 L142P 5NT3_HUMAN VAR_023513 N190S 5NT3_HUMAN VAR_023514 G241R A2AP_HUMAN VAR_013255 V411M A4_HUMAN VAR_000016 A692G A4_HUMAN VAR_000017 E693Q A4_HUMAN VAR_000019 A713T A4_HUMAN VAR_000020 I716V A4_HUMAN VAR_000021 V717I A4_HUMAN VAR_000022 V717G A4_HUMAN VAR_000023 V717F A4_HUMAN VAR_010107 E665D A4_HUMAN VAR_010108 V715M A4_HUMAN VAR_010109 L723P A4_HUMAN VAR_014215 E693G A4_HUMAN VAR_014216 E693K A4_HUMAN VAR_014217 D694N A4_HUMAN VAR_014218 T714I A4_HUMAN VAR_014219 V717L AAAS_HUMAN VAR_012804 Q15K AAAS_HUMAN VAR_012805 H160R AAAS_HUMAN VAR_012806 S263P AAKG2_HUMAN VAR_013264 R302Q AAKG2_HUMAN VAR_013266 H383R AAKG2_HUMAN VAR_013267 T400N AAKG2_HUMAN VAR_013268 N488I AAKG2_HUMAN VAR_013269 R531G ABCA1_HUMAN VAR_009146 R587W ABCA1_HUMAN VAR_009147 W590S ABCA1_HUMAN VAR_009148 Q597R ABCA1_HUMAN VAR_009150 N935S ABCA1_HUMAN VAR_009151 A937V ABCA1_HUMAN VAR_009152 D1289N ABCA1_HUMAN VAR_009153 C1477R ABCA1_HUMAN VAR_009154 I1517R ABCA1_HUMAN VAR_009155 N1800H ABCA1_HUMAN VAR_012619 R230C ABCA1_HUMAN VAR_012620 A255T ABCA1_HUMAN VAR_012626 T929I ABCA1_HUMAN VAR_012627 A1046D ABCA1_HUMAN VAR_012628 M1091T ABCA1_HUMAN VAR_012630 S1506L ABCA1_HUMAN VAR_012635 R2081W ABCA1_HUMAN VAR_012636 P2150L ABCA1_HUMAN VAR_017529 P85L ABCA1_HUMAN VAR_017530 D1099Y ABCA3_HUMAN VAR_023497 L101P ABCA3_HUMAN VAR_023498 N568D ABCA3_HUMAN VAR_023499 L1553P ABCA3_HUMAN VAR_023500 Q1591P ABCA4_HUMAN VAR_008398 R18W ABCA4_HUMAN VAR_008399 R24H ABCA4_HUMAN VAR_008400 C54Y ABCA4_HUMAN VAR_008401 G65E ABCA4_HUMAN VAR_008402 C75G ABCA4_HUMAN VAR_008403 N96D ABCA4_HUMAN VAR_008404 N96H ABCA4_HUMAN VAR_008405 A192T ABCA4_HUMAN VAR_008406 R212C ABCA4_HUMAN VAR_008407 D249G ABCA4_HUMAN VAR_008408 T300N ABCA4_HUMAN VAR_008409 S336C ABCA4_HUMAN VAR_008410 Y340D ABCA4_HUMAN VAR_008411 A407V ABCA4_HUMAN VAR_008412 S445R ABCA4_HUMAN VAR_008414 D523E ABCA4_HUMAN VAR_008415 L541P ABCA4_HUMAN VAR_008416 R572P ABCA4_HUMAN VAR_008417 R572Q ABCA4_HUMAN VAR_008418 R602W ABCA4_HUMAN VAR_008419 F608I ABCA4_HUMAN VAR_008421 D645N ABCA4_HUMAN VAR_008422 G818E ABCA4_HUMAN VAR_008423 W821R ABCA4_HUMAN VAR_008424 G851D ABCA4_HUMAN VAR_008425 G863A ABCA4_HUMAN VAR_008427 V931M ABCA4_HUMAN VAR_008429 Q957R ABCA4_HUMAN VAR_008430 N965S ABCA4_HUMAN VAR_008431 G978C ABCA4_HUMAN VAR_008432 E1036K ABCA4_HUMAN VAR_008433 A1038V ABCA4_HUMAN VAR_008434 S1071L ABCA4_HUMAN VAR_008435 V1072A ABCA4_HUMAN VAR_008436 E1087K ABCA4_HUMAN VAR_008437 T1112N ABCA4_HUMAN VAR_008438 E1122K ABCA4_HUMAN VAR_008440 L1201R ABCA4_HUMAN VAR_008441 D1204N ABCA4_HUMAN VAR_008443 P1380L ABCA4_HUMAN VAR_008444 H1406Y ABCA4_HUMAN VAR_008445 W1408L ABCA4_HUMAN VAR_008446 W1408R ABCA4_HUMAN VAR_008448 V1429A ABCA4_HUMAN VAR_008449 V1433I ABCA4_HUMAN VAR_008450 G1439D ABCA4_HUMAN VAR_008451 F1440S ABCA4_HUMAN VAR_008452 P1486L ABCA4_HUMAN VAR_008453 C1488R ABCA4_HUMAN VAR_008454 C1490Y ABCA4_HUMAN VAR_008456 T1526M ABCA4_HUMAN VAR_008457 D1532N ABCA4_HUMAN VAR_008460 L1631P ABCA4_HUMAN VAR_008461 R1640W ABCA4_HUMAN VAR_008462 Y1652D ABCA4_HUMAN VAR_008463 S1696N ABCA4_HUMAN VAR_008464 Q1703K ABCA4_HUMAN VAR_008465 L1729P ABCA4_HUMAN VAR_008466 A1794D ABCA4_HUMAN VAR_008467 R1820P ABCA4_HUMAN VAR_008468 H1838Y ABCA4_HUMAN VAR_008469 R1843W ABCA4_HUMAN VAR_008471 G1886E ABCA4_HUMAN VAR_008477 G1977S ABCA4_HUMAN VAR_008478 L2027F ABCA4_HUMAN VAR_008480 R2030Q ABCA4_HUMAN VAR_008481 V2050L ABCA4_HUMAN VAR_008482 R2077W ABCA4_HUMAN VAR_008483 E2096K ABCA4_HUMAN VAR_008484 R2106C ABCA4_HUMAN VAR_008485 R2107H ABCA4_HUMAN VAR_008486 H2128R ABCA4_HUMAN VAR_008487 E2131K ABCA4_HUMAN VAR_008488 R2139W ABCA4_HUMAN VAR_008489 C2150Y ABCA4_HUMAN VAR_008490 K2160R ABCA4_HUMAN VAR_008492 A60V ABCA4_HUMAN VAR_008495 R2038W ABCA4_HUMAN VAR_012493 L11P ABCA4_HUMAN VAR_012495 N58K ABCA4_HUMAN VAR_012496 A60E ABCA4_HUMAN VAR_012497 A60T ABCA4_HUMAN VAR_012498 P68L ABCA4_HUMAN VAR_012499 P68R ABCA4_HUMAN VAR_012500 G72R ABCA4_HUMAN VAR_012501 V77E ABCA4_HUMAN VAR_012502 S100P ABCA4_HUMAN VAR_012504 I156V ABCA4_HUMAN VAR_012505 Q190H ABCA4_HUMAN VAR_012506 S206R ABCA4_HUMAN VAR_012508 R220C ABCA4_HUMAN VAR_012509 C230S ABCA4_HUMAN VAR_012510 L244P ABCA4_HUMAN VAR_012511 N247S ABCA4_HUMAN VAR_012512 P309R ABCA4_HUMAN VAR_012513 E328V ABCA4_HUMAN VAR_012514 R333W ABCA4_HUMAN VAR_012515 W339G ABCA4_HUMAN VAR_012516 N380K ABCA4_HUMAN VAR_012518 F525C ABCA4_HUMAN VAR_012519 R537C ABCA4_HUMAN VAR_012520 A549P ABCA4_HUMAN VAR_012521 G550R ABCA4_HUMAN VAR_012523 R602Q ABCA4_HUMAN VAR_012524 G607R ABCA4_HUMAN VAR_012525 G607W ABCA4_HUMAN VAR_012526 Q635K ABCA4_HUMAN VAR_012527 Q636H ABCA4_HUMAN VAR_012528 V643M ABCA4_HUMAN VAR_012529 R653C ABCA4_HUMAN VAR_012530 L686S ABCA4_HUMAN VAR_012531 T716M ABCA4_HUMAN VAR_012532 C764Y ABCA4_HUMAN VAR_012533 S765R ABCA4_HUMAN VAR_012534 S765N ABCA4_HUMAN VAR_012535 V767D ABCA4_HUMAN VAR_012536 L797P ABCA4_HUMAN VAR_012537 I824T ABCA4_HUMAN VAR_012538 V849A ABCA4_HUMAN VAR_012539 A854T ABCA4_HUMAN VAR_012541 F873L ABCA4_HUMAN VAR_012542 T897I ABCA4_HUMAN VAR_012544 V935A ABCA4_HUMAN VAR_012545 R943W ABCA4_HUMAN VAR_012546 T959I ABCA4_HUMAN VAR_012547 T971N ABCA4_HUMAN VAR_012548 T972N ABCA4_HUMAN VAR_012549 S974P ABCA4_HUMAN VAR_012550 V989A ABCA4_HUMAN VAR_012551 G991R ABCA4_HUMAN VAR_012552 L1014R ABCA4_HUMAN VAR_012553 T1019A ABCA4_HUMAN VAR_012554 T1019M ABCA4_HUMAN VAR_012555 E1022K ABCA4_HUMAN VAR_012556 K1031E ABCA4_HUMAN VAR_012557 R1055W ABCA4_HUMAN VAR_012558 S1063P ABCA4_HUMAN VAR_012559 E1087D ABCA4_HUMAN VAR_012560 G1091E ABCA4_HUMAN VAR_012561 R1097C ABCA4_HUMAN VAR_012562 R1108C ABCA4_HUMAN VAR_012563 R1108H ABCA4_HUMAN VAR_012564 R1108L ABCA4_HUMAN VAR_012565 R1129C ABCA4_HUMAN VAR_012567 L1250P ABCA4_HUMAN VAR_012568 T1253M ABCA4_HUMAN VAR_012569 R1300Q ABCA4_HUMAN VAR_012570 L1388P ABCA4_HUMAN VAR_012571 E1399K ABCA4_HUMAN VAR_012572 L1430P ABCA4_HUMAN VAR_012573 F1440V ABCA4_HUMAN VAR_012574 R1443H ABCA4_HUMAN VAR_012575 C1488F ABCA4_HUMAN VAR_012576 C1488Y ABCA4_HUMAN VAR_012577 G1508C ABCA4_HUMAN VAR_012578 Q1513R ABCA4_HUMAN VAR_012579 L1525P ABCA4_HUMAN VAR_012580 T1537M ABCA4_HUMAN VAR_012581 A1598D ABCA4_HUMAN VAR_012583 R1640Q ABCA4_HUMAN VAR_012585 S1689P ABCA4_HUMAN VAR_012586 V1693I ABCA4_HUMAN VAR_012587 R1705L ABCA4_HUMAN VAR_012588 M1733T ABCA4_HUMAN VAR_012589 S1736P ABCA4_HUMAN VAR_012590 G1748R ABCA4_HUMAN VAR_012592 L1763P ABCA4_HUMAN VAR_012593 P1776L ABCA4_HUMAN VAR_012594 P1780A ABCA4_HUMAN VAR_012595 N1799D ABCA4_HUMAN VAR_012596 N1805D ABCA4_HUMAN VAR_012598 V1884E ABCA4_HUMAN VAR_012599 E1885K ABCA4_HUMAN VAR_012600 V1896D ABCA4_HUMAN VAR_012602 L1940P ABCA4_HUMAN VAR_012603 L1971R ABCA4_HUMAN VAR_012604 G1975R ABCA4_HUMAN VAR_012605 L2035P ABCA4_HUMAN VAR_012607 L2060R ABCA4_HUMAN VAR_012608 Y2071F ABCA4_HUMAN VAR_012609 R2077G ABCA4_HUMAN VAR_012610 R2107C ABCA4_HUMAN VAR_012611 G2146D ABCA4_HUMAN VAR_012612 R2149L ABCA4_HUMAN VAR_012613 C2150R ABCA4_HUMAN VAR_012615 L2229P ABCA4_HUMAN VAR_012616 L2241V ABCA4_HUMAN VAR_012617 R2263L ABCAC_HUMAN VAR_019598 N1380S ABCAC_HUMAN VAR_019599 G1381E ABCAC_HUMAN VAR_019600 R1514H ABCAC_HUMAN VAR_019601 E1539K ABCAC_HUMAN VAR_019602 G1651S ABCB7_HUMAN VAR_009156 I400M ABCB7_HUMAN VAR_012640 E433K ABCB7_HUMAN VAR_022874 V411L ABCBB_HUMAN VAR_010271 E297G ABCBB_HUMAN VAR_013334 K461E ABCBB_HUMAN VAR_013335 D482G ABCBB_HUMAN VAR_013336 G982R ABCBB_HUMAN VAR_013338 R1153C ABCBB_HUMAN VAR_013339 R1268Q ABCC8_HUMAN VAR_000100 G715V ABCC8_HUMAN VAR_008537 R1351P ABCC8_HUMAN VAR_008539 R1419C ABCC8_HUMAN VAR_008540 R1492W ABCC8_HUMAN VAR_008639 R73Q ABCC8_HUMAN VAR_008640 H124Q ABCC8_HUMAN VAR_008641 V186D ABCC8_HUMAN VAR_008642 N187S ABCC8_HUMAN VAR_008644 N405D ABCC8_HUMAN VAR_008646 F590L ABCC8_HUMAN VAR_008649 T1137M ABCC8_HUMAN VAR_008650 R1213Q ABCC8_HUMAN VAR_008653 G1377R ABCC8_HUMAN VAR_008654 G1380S ABCC8_HUMAN VAR_008655 R1392H ABCC8_HUMAN VAR_008656 G1477R ABCC8_HUMAN VAR_015007 V1359M ABCC8_HUMAN VAR_015008 R1435Q ABCC8_HUMAN VAR_015009 E1505K ABCC8_HUMAN VAR_015010 L1542P ABCD1_HUMAN VAR_000024 S98L ABCD1_HUMAN VAR_000025 R104C ABCD1_HUMAN VAR_000026 R104H ABCD1_HUMAN VAR_000027 T105I ABCD1_HUMAN VAR_000028 L107P ABCD1_HUMAN VAR_000029 S108W ABCD1_HUMAN VAR_000030 G116R ABCD1_HUMAN VAR_000033 A141T ABCD1_HUMAN VAR_000034 N148S ABCD1_HUMAN VAR_000035 S149N ABCD1_HUMAN VAR_000036 R152C ABCD1_HUMAN VAR_000037 R152P ABCD1_HUMAN VAR_000038 R163H ABCD1_HUMAN VAR_000039 Y174D ABCD1_HUMAN VAR_000040 Y174S ABCD1_HUMAN VAR_000041 Q178E ABCD1_HUMAN VAR_000042 Y181C ABCD1_HUMAN VAR_000043 R182P ABCD1_HUMAN VAR_000044 D194H ABCD1_HUMAN VAR_000045 D200V ABCD1_HUMAN VAR_000046 L211P ABCD1_HUMAN VAR_000047 L220P ABCD1_HUMAN VAR_000048 D221G ABCD1_HUMAN VAR_000049 T254M ABCD1_HUMAN VAR_000050 T254P ABCD1_HUMAN VAR_000051 P263L ABCD1_HUMAN VAR_000052 G266R ABCD1_HUMAN VAR_000053 K276E ABCD1_HUMAN VAR_000054 G277R ABCD1_HUMAN VAR_000056 G277W ABCD1_HUMAN VAR_000057 E291D ABCD1_HUMAN VAR_000058 E291K ABCD1_HUMAN VAR_000060 A294T ABCD1_HUMAN VAR_000061 S342P ABCD1_HUMAN VAR_000062 R389G ABCD1_HUMAN VAR_000063 R389H ABCD1_HUMAN VAR_000064 R401Q ABCD1_HUMAN VAR_000065 R418W ABCD1_HUMAN VAR_000066 P484R ABCD1_HUMAN VAR_000067 G507V ABCD1_HUMAN VAR_000068 G512S ABCD1_HUMAN VAR_000069 S515F ABCD1_HUMAN VAR_000070 R518Q ABCD1_HUMAN VAR_000071 R518W ABCD1_HUMAN VAR_000072 G522W ABCD1_HUMAN VAR_000074 P534L ABCD1_HUMAN VAR_000075 P560L ABCD1_HUMAN VAR_000076 P560R ABCD1_HUMAN VAR_000077 M566K ABCD1_HUMAN VAR_000078 R591Q ABCD1_HUMAN VAR_000079 S606L ABCD1_HUMAN VAR_000080 S606P ABCD1_HUMAN VAR_000081 E609G ABCD1_HUMAN VAR_000082 E609K ABCD1_HUMAN VAR_000083 R617C ABCD1_HUMAN VAR_000084 R617G ABCD1_HUMAN VAR_000085 R617H ABCD1_HUMAN VAR_000086 A626T ABCD1_HUMAN VAR_000087 D629H ABCD1_HUMAN VAR_000089 R660W ABCD1_HUMAN VAR_000090 W679R ABCD1_HUMAN VAR_009349 E90K ABCD1_HUMAN VAR_009350 S103R ABCD1_HUMAN VAR_009351 T105P ABCD1_HUMAN VAR_009352 S108L ABCD1_HUMAN VAR_009353 R113C ABCD1_HUMAN VAR_009354 P143S ABCD1_HUMAN VAR_009355 R152L ABCD1_HUMAN VAR_009356 R152S ABCD1_HUMAN VAR_009357 S161P ABCD1_HUMAN VAR_009358 R163P ABCD1_HUMAN VAR_009359 Y174C ABCD1_HUMAN VAR_009360 R189W ABCD1_HUMAN VAR_009361 L190P ABCD1_HUMAN VAR_009362 T198K ABCD1_HUMAN VAR_009363 D200N ABCD1_HUMAN VAR_009364 S213C ABCD1_HUMAN VAR_009365 N214D ABCD1_HUMAN VAR_009366 P218T ABCD1_HUMAN VAR_009367 L229P ABCD1_HUMAN VAR_009368 E271K ABCD1_HUMAN VAR_009369 R285P ABCD1_HUMAN VAR_009370 Y296C ABCD1_HUMAN VAR_009371 G298D ABCD1_HUMAN VAR_009372 E302K ABCD1_HUMAN VAR_009373 L322P ABCD1_HUMAN VAR_009374 K336M ABCD1_HUMAN VAR_009375 R401W ABCD1_HUMAN VAR_009376 G529S ABCD1_HUMAN VAR_009377 F540S ABCD1_HUMAN VAR_009378 P543L ABCD1_HUMAN VAR_009379 Q544R ABCD1_HUMAN VAR_009380 S552P ABCD1_HUMAN VAR_009381 R554H ABCD1_HUMAN VAR_009382 R591W ABCD1_HUMAN VAR_009383 A616V ABCD1_HUMAN VAR_009384 E630G ABCD1_HUMAN VAR_009385 C631Y ABCD1_HUMAN VAR_009386 S633R ABCD1_HUMAN VAR_009387 S636I ABCD1_HUMAN VAR_009388 D638Y ABCD1_HUMAN VAR_009389 A646P ABCD1_HUMAN VAR_009390 L654P ABCD1_HUMAN VAR_009391 H667D ABCD1_HUMAN VAR_009392 T668I ABCD1_HUMAN VAR_009393 T693M ABCD1_HUMAN VAR_013341 A99D ABCD1_HUMAN VAR_013342 R113P ABCD1_HUMAN VAR_013344 K217E ABCD1_HUMAN VAR_013345 V224E ABCD1_HUMAN VAR_013346 R274W ABCD1_HUMAN VAR_013347 R280C ABCD1_HUMAN VAR_013349 W339R ABCD1_HUMAN VAR_013350 G343D ABCD1_HUMAN VAR_013352 Q556R ABCD1_HUMAN VAR_013353 P560S ABCD1_HUMAN VAR_013354 R591P ABCD1_HUMAN VAR_013355 G608D ABCD1_HUMAN VAR_013356 A626D ABCD1_HUMAN VAR_013357 T632I ABCD1_HUMAN VAR_013358 S633I ABCD1_HUMAN VAR_013359 V635M ABCD1_HUMAN VAR_013360 R660P ABCD1_HUMAN VAR_023004 C88W ABCD1_HUMAN VAR_023005 G343S ABCD1_HUMAN VAR_023006 L503P ABCD1_HUMAN VAR_023007 S514R ABCD3_HUMAN VAR_000091 G17D ABCG5_HUMAN VAR_012244 E146Q ABCG5_HUMAN VAR_012245 R389H ABCG5_HUMAN VAR_012246 R419H ABCG5_HUMAN VAR_012247 R419P ABCG5_HUMAN VAR_012248 R550S ABCG5_HUMAN VAR_020781 N437K ABCG8_HUMAN VAR_012252 R184H ABCG8_HUMAN VAR_012253 P231T ABCG8_HUMAN VAR_012256 R263Q ABCG8_HUMAN VAR_012258 R405H ABCG8_HUMAN VAR_012259 L501P ABCG8_HUMAN VAR_012260 R543S ABCG8_HUMAN VAR_012262 L572P ABCG8_HUMAN VAR_012263 G574E ABCG8_HUMAN VAR_012264 G574R ABCG8_HUMAN VAR_012266 L596R ABHD5_HUMAN VAR_023387 E7K ABHD5_HUMAN VAR_023388 Q130P ABHD5_HUMAN VAR_023389 E260K ACADL_HUMAN VAR_000329 Q333K ACADM_HUMAN VAR_000317 R53C ACADM_HUMAN VAR_000319 M149I ACADM_HUMAN VAR_000320 T193A ACADM_HUMAN VAR_000321 G195R ACADM_HUMAN VAR_000322 C244R ACADM_HUMAN VAR_000323 G267R ACADM_HUMAN VAR_000324 M326T ACADM_HUMAN VAR_000325 K329E ACADM_HUMAN VAR_000326 S336R ACADM_HUMAN VAR_000327 I375T ACADM_HUMAN VAR_013698 Y67H ACADM_HUMAN VAR_013699 S245L ACADM_HUMAN VAR_013700 R281T ACADM_HUMAN VAR_015954 I78T ACADM_HUMAN VAR_015955 C116Y ACADM_HUMAN VAR_015956 T121I ACADM_HUMAN VAR_015957 R206L ACADM_HUMAN VAR_015958 G310R ACADM_HUMAN VAR_015959 Y352C ACADS_HUMAN VAR_000310 R46W ACADS_HUMAN VAR_000311 G92C ACADS_HUMAN VAR_000312 R107C ACADS_HUMAN VAR_000314 W177R ACADS_HUMAN VAR_000316 R383C ACADS_HUMAN VAR_013565 G90S ACADS_HUMAN VAR_013568 A192V ACADS_HUMAN VAR_013569 R325W ACADS_HUMAN VAR_013570 S353L ACADS_HUMAN VAR_013571 R380W ACADV_HUMAN VAR_000330 G43D ACADV_HUMAN VAR_000332 T158N ACADV_HUMAN VAR_000333 Q159R ACADV_HUMAN VAR_000334 V174M ACADV_HUMAN VAR_000335 G185S ACADV_HUMAN VAR_000336 E218K ACADV_HUMAN VAR_000337 L243R ACADV_HUMAN VAR_000338 K247T ACADV_HUMAN VAR_000339 T260M ACADV_HUMAN VAR_000341 A281D ACADV_HUMAN VAR_000342 V283A ACADV_HUMAN VAR_000343 G290D ACADV_HUMAN VAR_000344 G294E ACADV_HUMAN VAR_000345 K299N ACADV_HUMAN VAR_000347 V317A ACADV_HUMAN VAR_000348 M352V ACADV_HUMAN VAR_000349 R366C ACADV_HUMAN VAR_000350 R366H ACADV_HUMAN VAR_000352 K382Q ACADV_HUMAN VAR_000353 D405H ACADV_HUMAN VAR_000354 G441D ACADV_HUMAN VAR_000355 R450H ACADV_HUMAN VAR_000356 R453Q ACADV_HUMAN VAR_000357 D454N ACADV_HUMAN VAR_000358 R456H ACADV_HUMAN VAR_000359 R459W ACADV_HUMAN VAR_000360 G463E ACADV_HUMAN VAR_000361 R469Q ACADV_HUMAN VAR_000362 R469W ACADV_HUMAN VAR_000363 L502P ACADV_HUMAN VAR_000364 L602I ACADV_HUMAN VAR_000365 R613W ACADV_HUMAN VAR_010101 A213P ACADV_HUMAN VAR_010102 K247E ACADV_HUMAN VAR_010103 F458L ACADV_HUMAN VAR_010104 A490P ACADV_HUMAN VAR_010105 E534K ACADV_HUMAN VAR_010106 R615Q ACDSB_HUMAN VAR_013010 L255F ACHA4_HUMAN VAR_000295 S280F ACHA4_HUMAN VAR_017531 S280L ACHA_HUMAN VAR_000282 G198S ACHA_HUMAN VAR_000283 V201M ACHA_HUMAN VAR_000284 N262K ACHA_HUMAN VAR_000285 T299I ACHA_HUMAN VAR_000286 S314I ACHA_HUMAN VAR_021206 F278V ACHA_HUMAN VAR_021207 V294F ACHA_HUMAN VAR_021208 F301L ACHA_HUMAN VAR_021209 V330I ACHB2_HUMAN VAR_012714 V287L ACHB2_HUMAN VAR_012715 V287M ACHB_HUMAN VAR_000287 L285M ACHB_HUMAN VAR_000288 V289M ACHD_HUMAN VAR_019566 S289F ACHD_HUMAN VAR_021210 E80K ACHD_HUMAN VAR_021211 P271Q ACHD_HUMAN VAR_021212 Q288E ACHE_HUMAN VAR_000289 P141L ACHE_HUMAN VAR_000290 R167L ACHE_HUMAN VAR_000291 P265L ACHE_HUMAN VAR_000292 T284P ACHE_HUMAN VAR_000293 L289F ACHE_HUMAN VAR_000294 R331W ACHE_HUMAN VAR_019567 L98P ACHE_HUMAN VAR_019568 L241F ACHE_HUMAN VAR_021213 G13R ACHE_HUMAN VAR_021214 S163L ACHE_HUMAN VAR_021215 A431P ACSL4_HUMAN VAR_013180 R570S ACTC_HUMAN VAR_012857 E101K ACTC_HUMAN VAR_012858 P166A ACTC_HUMAN VAR_012859 A297S ACTC_HUMAN VAR_012860 R314H ACTC_HUMAN VAR_012861 A333P ACTC_HUMAN VAR_012862 E363G ACTHR_HUMAN VAR_003510 S74I ACTHR_HUMAN VAR_003511 S120R ACTHR_HUMAN VAR_003512 R128C ACTHR_HUMAN VAR_003513 R146H ACTHR_HUMAN VAR_010702 D103N ACTHR_HUMAN VAR_010703 R137W ACTHR_HUMAN VAR_015095 D107N ACTHR_HUMAN VAR_015096 C251F ACTHR_HUMAN VAR_015295 Y254C ACTN4_HUMAN VAR_010378 K255E ACTN4_HUMAN VAR_010379 T259I ACTN4_HUMAN VAR_010380 S262P ACTS_HUMAN VAR_011680 G17R ACTS_HUMAN VAR_011681 L96P ACTS_HUMAN VAR_011682 N117S ACTS_HUMAN VAR_011683 I138M ACTS_HUMAN VAR_011684 V165L ACTS_HUMAN VAR_011685 E261V ACTS_HUMAN VAR_011686 G270C ACTS_HUMAN VAR_011687 V372F ACTS_HUMAN VAR_013470 M134V ACTS_HUMAN VAR_013471 M271R ACTS_HUMAN VAR_015579 H42Y ACTS_HUMAN VAR_015580 G184D ACTS_HUMAN VAR_015581 R185G ACTS_HUMAN VAR_015582 R185C ACTS_HUMAN VAR_015583 R258H ACTS_HUMAN VAR_015584 Q265L ACTS_HUMAN VAR_015585 N282K ACTS_HUMAN VAR_015586 D288G ACTS_HUMAN VAR_015587 I359L ACVL1_HUMAN VAR_006204 W50C ACVL1_HUMAN VAR_006205 C51Y ACVL1_HUMAN VAR_006206 R67Q ACVL1_HUMAN VAR_006207 C77W ACVL1_HUMAN VAR_006208 N96D ACVL1_HUMAN VAR_006210 S333I ACVL1_HUMAN VAR_006211 R374W ACVL1_HUMAN VAR_006212 M376R ACVL1_HUMAN VAR_006213 R411Q ACVL1_HUMAN VAR_006214 P424T ACY2_HUMAN VAR_004995 I143T ACY2_HUMAN VAR_004996 C152R ACY2_HUMAN VAR_004998 G274R ACY2_HUMAN VAR_004999 E285A ACY2_HUMAN VAR_005000 F295S ACY2_HUMAN VAR_005001 A305E ACY2_HUMAN VAR_016778 H21P ACY2_HUMAN VAR_016779 A57T ACY2_HUMAN VAR_016780 R168H ACY2_HUMAN VAR_016781 P181T ACY2_HUMAN VAR_016782 E24G ACY2_HUMAN VAR_016783 D68A ACY2_HUMAN VAR_016784 D114Y ACY2_HUMAN VAR_016785 C152W ACY2_HUMAN VAR_016786 Y231C ACY2_HUMAN VAR_016787 H244R ACY2_HUMAN VAR_016788 D249V ADAS_HUMAN VAR_005002 R419H ADA_HUMAN VAR_002210 H14D ADA_HUMAN VAR_002211 G19R ADA_HUMAN VAR_002212 G73C ADA_HUMAN VAR_002213 R75W ADA_HUMAN VAR_002215 A82D ADA_HUMAN VAR_002216 R100L ADA_HUMAN VAR_002217 R100W ADA_HUMAN VAR_002218 R100Q ADA_HUMAN VAR_002219 L106P ADA_HUMAN VAR_002220 V128M ADA_HUMAN VAR_002221 G139E ADA_HUMAN VAR_002222 R141Q ADA_HUMAN VAR_002223 R148Q ADA_HUMAN VAR_002224 R148W ADA_HUMAN VAR_002225 L151M ADA_HUMAN VAR_002226 R155C ADA_HUMAN VAR_002227 R155H ADA_HUMAN VAR_002228 V176M ADA_HUMAN VAR_002229 A178D ADA_HUMAN VAR_002230 Q198P ADA_HUMAN VAR_002231 R210C ADA_HUMAN VAR_002232 R210H ADA_HUMAN VAR_002233 A214T ADA_HUMAN VAR_002234 G215R ADA_HUMAN VAR_002235 T232I ADA_HUMAN VAR_002236 P273L ADA_HUMAN VAR_002237 S290L ADA_HUMAN VAR_002238 P296Q ADA_HUMAN VAR_002239 L303R ADA_HUMAN VAR_002240 A328V ADIPO_HUMAN VAR_013274 R112C ADT1_HUMAN VAR_012111 A113P ADT1_HUMAN VAR_012112 V288M ADT1_HUMAN VAR_022459 L97P ADT1_HUMAN VAR_022460 D103G AGAL_HUMAN VAR_000431 L32P AGAL_HUMAN VAR_000432 N34S AGAL_HUMAN VAR_000433 G35R AGAL_HUMAN VAR_000434 P40S AGAL_HUMAN VAR_000435 R49L AGAL_HUMAN VAR_000436 C52R AGAL_HUMAN VAR_000437 C52S AGAL_HUMAN VAR_000438 C56F AGAL_HUMAN VAR_000439 C56G AGAL_HUMAN VAR_000440 E59K AGAL_HUMAN VAR_000441 E66Q AGAL_HUMAN VAR_000442 M72V AGAL_HUMAN VAR_000443 G85D AGAL_HUMAN VAR_000444 L89R AGAL_HUMAN VAR_000445 R100K AGAL_HUMAN VAR_000447 R112C AGAL_HUMAN VAR_000448 R112H AGAL_HUMAN VAR_000450 G128E AGAL_HUMAN VAR_000451 L131P AGAL_HUMAN VAR_000452 C142Y AGAL_HUMAN VAR_000453 A143P AGAL_HUMAN VAR_000454 G144V AGAL_HUMAN VAR_000455 P146S AGAL_HUMAN VAR_000456 A156T AGAL_HUMAN VAR_000457 A156V AGAL_HUMAN VAR_000458 W162R AGAL_HUMAN VAR_000459 D165V AGAL_HUMAN VAR_000460 L166V AGAL_HUMAN VAR_000461 C172Y AGAL_HUMAN VAR_000462 C202W AGAL_HUMAN VAR_000463 P205T AGAL_HUMAN VAR_000464 N215S AGAL_HUMAN VAR_000465 I219N AGAL_HUMAN VAR_000466 N224D AGAL_HUMAN VAR_000467 R227Q AGAL_HUMAN VAR_000468 D231N AGAL_HUMAN VAR_000469 D244N AGAL_HUMAN VAR_000471 D264V AGAL_HUMAN VAR_000472 D266V AGAL_HUMAN VAR_000473 V269A AGAL_HUMAN VAR_000474 N272K AGAL_HUMAN VAR_000475 Q279E AGAL_HUMAN VAR_000476 M284T AGAL_HUMAN VAR_000477 A288D AGAL_HUMAN VAR_000478 M296V AGAL_HUMAN VAR_000479 S297F AGAL_HUMAN VAR_000480 N298K AGAL_HUMAN VAR_000481 R301Q AGAL_HUMAN VAR_000482 D313Y AGAL_HUMAN VAR_000483 V316E AGAL_HUMAN VAR_000484 Q327K AGAL_HUMAN VAR_000485 G328R AGAL_HUMAN VAR_000486 G328A AGAL_HUMAN VAR_000487 R342Q AGAL_HUMAN VAR_000488 R356W AGAL_HUMAN VAR_000489 E358K AGAL_HUMAN VAR_000491 G361R AGAL_HUMAN VAR_012362 A20P AGAL_HUMAN VAR_012363 A31V AGAL_HUMAN VAR_012364 P40L AGAL_HUMAN VAR_012365 M42V AGAL_HUMAN VAR_012367 H46R AGAL_HUMAN VAR_012368 H46Y AGAL_HUMAN VAR_012369 W47G AGAL_HUMAN VAR_012370 R49P AGAL_HUMAN VAR_012371 R49S AGAL_HUMAN VAR_012372 C56Y AGAL_HUMAN VAR_012373 Y86C AGAL_HUMAN VAR_012374 L89P AGAL_HUMAN VAR_012375 I91T AGAL_HUMAN VAR_012376 D92H AGAL_HUMAN VAR_012377 D92Y AGAL_HUMAN VAR_012378 D93G AGAL_HUMAN VAR_012379 C94S AGAL_HUMAN VAR_012380 C94Y AGAL_HUMAN VAR_012381 W95S AGAL_HUMAN VAR_012382 A97V AGAL_HUMAN VAR_012383 R100T AGAL_HUMAN VAR_012384 F113L AGAL_HUMAN VAR_012385 F113S AGAL_HUMAN VAR_012386 Y134S AGAL_HUMAN VAR_012387 G138R AGAL_HUMAN VAR_012388 C142R AGAL_HUMAN VAR_012389 A143T AGAL_HUMAN VAR_012390 S148N AGAL_HUMAN VAR_012391 S148R AGAL_HUMAN VAR_012392 W162C AGAL_HUMAN VAR_012393 G163V AGAL_HUMAN VAR_012394 D170V AGAL_HUMAN VAR_012395 C172R AGAL_HUMAN VAR_012396 G183D AGAL_HUMAN VAR_012397 M187V AGAL_HUMAN VAR_012398 C202Y AGAL_HUMAN VAR_012400 Y216D AGAL_HUMAN VAR_012401 C223G AGAL_HUMAN VAR_012402 N224S AGAL_HUMAN VAR_012403 W226R AGAL_HUMAN VAR_012404 A230T AGAL_HUMAN VAR_012405 S235C AGAL_HUMAN VAR_012406 W236C AGAL_HUMAN VAR_012407 W236L AGAL_HUMAN VAR_012408 I242N AGAL_HUMAN VAR_012409 D244H AGAL_HUMAN VAR_012410 G258R AGAL_HUMAN VAR_012411 P259L AGAL_HUMAN VAR_012412 P259R AGAL_HUMAN VAR_012413 G260A AGAL_HUMAN VAR_012414 G261D AGAL_HUMAN VAR_012415 N263S AGAL_HUMAN VAR_012416 P265R AGAL_HUMAN VAR_012417 D266H AGAL_HUMAN VAR_012418 D266N AGAL_HUMAN VAR_012419 M267I AGAL_HUMAN VAR_012420 Q279H AGAL_HUMAN VAR_012421 Q280H AGAL_HUMAN VAR_012422 W287C AGAL_HUMAN VAR_012423 W287G AGAL_HUMAN VAR_012424 I289F AGAL_HUMAN VAR_012425 M296I AGAL_HUMAN VAR_012426 N298H AGAL_HUMAN VAR_012427 N298S AGAL_HUMAN VAR_012430 N320K AGAL_HUMAN VAR_012431 N320Y AGAL_HUMAN VAR_012432 Q321E AGAL_HUMAN VAR_012433 W340R AGAL_HUMAN VAR_012434 E341K AGAL_HUMAN VAR_012435 R363H AGAL_HUMAN VAR_012436 G373D AGAL_HUMAN VAR_012437 G373S AGAL_HUMAN VAR_012438 A377D AGAL_HUMAN VAR_012439 C378Y AGAL_HUMAN VAR_012440 P409A AGAL_HUMAN VAR_012441 P409T AGGF1_HUMAN VAR_017901 E133K AHI1_HUMAN VAR_023391 V443D AICDA_HUMAN VAR_013774 R24W AICDA_HUMAN VAR_013775 W80R AICDA_HUMAN VAR_013776 L106P AICDA_HUMAN VAR_013777 M139V AICDA_HUMAN VAR_013778 F151S AIPL1_HUMAN VAR_010139 C239R AIRE_HUMAN VAR_005004 L28P AIRE_HUMAN VAR_005005 K83E AIRE_HUMAN VAR_013713 R15L AIRE_HUMAN VAR_013714 T16M AIRE_HUMAN VAR_013715 L29P AIRE_HUMAN VAR_013716 W78R AIRE_HUMAN VAR_013717 V80L AIRE_HUMAN VAR_013718 Y85C AIRE_HUMAN VAR_013719 Y90C AIRE_HUMAN VAR_013720 L93R AIRE_HUMAN VAR_013721 V301M AIRE_HUMAN VAR_013723 C311Y AIRE_HUMAN VAR_013724 P326Q AIRE_HUMAN VAR_014422 G228W AL3A2_HUMAN VAR_002249 L106R AL3A2_HUMAN VAR_002250 C214Y AL3A2_HUMAN VAR_002251 C226W AL3A2_HUMAN VAR_002252 D245N AL3A2_HUMAN VAR_002254 P315S AL3A2_HUMAN VAR_002255 S365L AL3A2_HUMAN VAR_002256 G412R AL3A2_HUMAN VAR_017510 I45F AL3A2_HUMAN VAR_017511 V64D AL3A2_HUMAN VAR_017512 P114L AL3A2_HUMAN VAR_017513 P121L AL3A2_HUMAN VAR_017514 T184M AL3A2_HUMAN VAR_017515 T184R AL3A2_HUMAN VAR_017516 G185A AL3A2_HUMAN VAR_017517 R228C AL3A2_HUMAN VAR_017518 C237Y AL3A2_HUMAN VAR_017519 K266N AL3A2_HUMAN VAR_017520 Y279N AL3A2_HUMAN VAR_017521 M328I AL3A2_HUMAN VAR_017522 N386S AL3A2_HUMAN VAR_017523 G406R AL3A2_HUMAN VAR_017524 H411Y AL3A2_HUMAN VAR_017525 S415N AL3A2_HUMAN VAR_017526 F419S AL3A2_HUMAN VAR_017527 R423H AL3A2_HUMAN VAR_017528 K447E AL4A1_HUMAN VAR_002260 S352L ALBU_HUMAN VAR_000514 R242H ALBU_HUMAN VAR_013011 L90P ALBU_HUMAN VAR_013013 R242P ALDOA_HUMAN VAR_000550 D128G ALDOB_HUMAN VAR_000551 C134R ALDOB_HUMAN VAR_000554 A174D ALDOB_HUMAN VAR_000555 L256P ALDOB_HUMAN VAR_000556 R303W ALDOB_HUMAN VAR_000557 N334K ALDOB_HUMAN VAR_000558 A337V ALDOB_HUMAN VAR_020822 I73T ALDOB_HUMAN VAR_020824 P184R ALDOB_HUMAN VAR_020826 V221F ALDOB_HUMAN VAR_020827 L228P ALDOB_HUMAN VAR_020828 R303Q ALG12_HUMAN VAR_017904 T67M ALG12_HUMAN VAR_017905 F142V ALG12_HUMAN VAR_017906 R146Q ALG12_HUMAN VAR_017907 L158P ALG3_HUMAN VAR_010306 G118D ALG6_HUMAN VAR_013443 A333V ALG6_HUMAN VAR_013444 S478P ALG6_HUMAN VAR_022511 Y131H ALG6_HUMAN VAR_022512 S170I ALG6_HUMAN VAR_022513 G227E ALG6_HUMAN VAR_022514 S308R ALG8_HUMAN VAR_023480 T47P ALG8_HUMAN VAR_023482 G275D ALX4_HUMAN VAR_010785 R218Q ALX4_HUMAN VAR_010897 R272P AMACR_HUMAN VAR_010661 S52P AMACR_HUMAN VAR_010665 L107P AMHR2_HUMAN VAR_015525 R54C AMHR2_HUMAN VAR_015526 G142V AMHR2_HUMAN VAR_015527 H282Q AMHR2_HUMAN VAR_015528 R406Q AMHR2_HUMAN VAR_015529 D426G AMHR2_HUMAN VAR_015530 V458A AMHR2_HUMAN VAR_015531 D491H AMHR2_HUMAN VAR_015532 R504C AMNLS_HUMAN VAR_015733 T41I AMPD1_HUMAN VAR_013271 R388W AMPD1_HUMAN VAR_013272 R425H ANAG_HUMAN VAR_005007 Y92H ANAG_HUMAN VAR_005008 P115S ANAG_HUMAN VAR_005009 Y140C ANAG_HUMAN VAR_005010 E153K ANAG_HUMAN VAR_005011 P358L ANAG_HUMAN VAR_005012 R643H ANAG_HUMAN VAR_005013 A664V ANAG_HUMAN VAR_005014 R674H ANAG_HUMAN VAR_005015 L682R ANAG_HUMAN VAR_008979 G79C ANAG_HUMAN VAR_008982 P243L ANAG_HUMAN VAR_008983 C277F ANAG_HUMAN VAR_008984 L280P ANAG_HUMAN VAR_008985 G292R ANAG_HUMAN VAR_008986 E452K ANAG_HUMAN VAR_008987 R482W ANAG_HUMAN VAR_008988 L561R ANAG_HUMAN VAR_008989 R565Q ANAG_HUMAN VAR_008990 E705K ANK1_HUMAN VAR_000596 V462I ANKH_HUMAN VAR_012192 W292R ANKH_HUMAN VAR_012193 C331R ANKH_HUMAN VAR_012198 G389R ANKH_HUMAN VAR_017556 M48T ANKH_HUMAN VAR_022606 P5L ANKH_HUMAN VAR_022607 P5T ANPRB_HUMAN VAR_022583 P32T ANPRB_HUMAN VAR_022584 W115G ANPRB_HUMAN VAR_022585 D176E ANPRB_HUMAN VAR_022586 T297M ANPRB_HUMAN VAR_022587 Y338C ANPRB_HUMAN VAR_022588 A409T ANPRB_HUMAN VAR_022589 G413E ANPRB_HUMAN VAR_022590 Y708C ANPRB_HUMAN VAR_022591 R776W ANPRB_HUMAN VAR_022592 R957C ANPRB_HUMAN VAR_022593 G959A ANT3_HUMAN VAR_007033 I39N ANT3_HUMAN VAR_007034 M52T ANT3_HUMAN VAR_007035 R56C ANT3_HUMAN VAR_007036 P73L ANT3_HUMAN VAR_007037 R79C ANT3_HUMAN VAR_007038 R79H ANT3_HUMAN VAR_007039 R79S ANT3_HUMAN VAR_007041 R89C ANT3_HUMAN VAR_007042 F90L ANT3_HUMAN VAR_007044 P112T ANT3_HUMAN VAR_007045 L131F ANT3_HUMAN VAR_007047 Q133K ANT3_HUMAN VAR_007051 H152Y ANT3_HUMAN VAR_007053 L158P ANT3_HUMAN VAR_007054 R161Q ANT3_HUMAN VAR_007056 Y198C ANT3_HUMAN VAR_007057 S214Y ANT3_HUMAN VAR_007058 N219K ANT3_HUMAN VAR_007059 N219D ANT3_HUMAN VAR_007060 E269K ANT3_HUMAN VAR_007062 M283I ANT3_HUMAN VAR_007063 L302P ANT3_HUMAN VAR_007064 I316N ANT3_HUMAN VAR_007065 E334K ANT3_HUMAN VAR_007067 S381P ANT3_HUMAN VAR_007069 A414T ANT3_HUMAN VAR_007070 A416P ANT3_HUMAN VAR_007071 A416S ANT3_HUMAN VAR_007072 A419V ANT3_HUMAN VAR_007073 G424D ANT3_HUMAN VAR_007074 R425H ANT3_HUMAN VAR_007075 R425C ANT3_HUMAN VAR_007076 R425P ANT3_HUMAN VAR_007077 S426L ANT3_HUMAN VAR_007078 F434C ANT3_HUMAN VAR_007079 F434S ANT3_HUMAN VAR_007080 F434L ANT3_HUMAN VAR_007081 A436T ANT3_HUMAN VAR_007082 N437K ANT3_HUMAN VAR_007083 R438M ANT3_HUMAN VAR_007084 P439L ANT3_HUMAN VAR_007085 P439T ANT3_HUMAN VAR_007086 I453T ANT3_HUMAN VAR_007087 G456R ANT3_HUMAN VAR_007088 R457T ANT3_HUMAN VAR_007090 A459D ANT3_HUMAN VAR_007091 P461L ANT3_HUMAN VAR_007092 C462F ANT3_HUMAN VAR_009258 R438G ANT3_HUMAN VAR_012316 Y95S ANT3_HUMAN VAR_012748 L23P ANTR2_HUMAN VAR_022687 L45P ANTR2_HUMAN VAR_022688 G105D ANTR2_HUMAN VAR_022689 I189T ANTR2_HUMAN VAR_022690 C218R ANTR2_HUMAN VAR_022692 L329R ANTR2_HUMAN VAR_022694 Y381C AP2B_HUMAN VAR_011318 A264D AP2B_HUMAN VAR_011319 R289C AP2B_HUMAN VAR_016977 P62R AP2B_HUMAN VAR_016978 R225C AP2B_HUMAN VAR_016979 R225S AP2B_HUMAN VAR_016980 R274Q AP3B1_HUMAN VAR_011596 L580R APOA1_HUMAN VAR_000610 L84R APOB_HUMAN VAR_022610 R490W APOC2_HUMAN VAR_000640 W48R APOE_HUMAN VAR_000646 E31K APOE_HUMAN VAR_000656 R154S APOE_HUMAN VAR_000657 R154C APOE_HUMAN VAR_000658 R160C APOE_HUMAN VAR_000661 K164Q APOE_HUMAN VAR_000662 K164E APTX_HUMAN VAR_018794 K211Q APTX_HUMAN VAR_018795 A212V APTX_HUMAN VAR_018796 R213H APTX_HUMAN VAR_018797 H215R APTX_HUMAN VAR_018798 P220L APTX_HUMAN VAR_018799 V277G APTX_HUMAN VAR_018800 D281G APTX_HUMAN VAR_018801 W293R APT_HUMAN VAR_006747 D64V APT_HUMAN VAR_006748 L109P APT_HUMAN VAR_006749 M135T APT_HUMAN VAR_022608 V149F APT_HUMAN VAR_022609 C152R AQP2_HUMAN VAR_004401 G64R AQP2_HUMAN VAR_004402 R187C AQP2_HUMAN VAR_004403 S216P AQP2_HUMAN VAR_015239 L22V AQP2_HUMAN VAR_015240 L28P AQP2_HUMAN VAR_015241 A47V AQP2_HUMAN VAR_015242 N68S AQP2_HUMAN VAR_015243 V71M AQP2_HUMAN VAR_015244 T125M AQP2_HUMAN VAR_015245 T126M AQP2_HUMAN VAR_015246 A147T AQP2_HUMAN VAR_015247 V168M AQP2_HUMAN VAR_015248 G175R AQP2_HUMAN VAR_015249 C181W AQP2_HUMAN VAR_015250 P185A AQP2_HUMAN VAR_015251 A190T AQP2_HUMAN VAR_015253 W202C AQP2_HUMAN VAR_015254 E258K AQP2_HUMAN VAR_015255 P262L AQP2_HUMAN VAR_015256 Q57P AQP2_HUMAN VAR_015257 G100V ARGI1_HUMAN VAR_000674 G235R ARGI1_HUMAN VAR_015594 I11T ARGI1_HUMAN VAR_015595 G138V ARHGA_HUMAN VAR_019118 T127I ARH_HUMAN VAR_023320 P202H ARLY_HUMAN VAR_000676 R95C ARLY_HUMAN VAR_000677 R111W ARLY_HUMAN VAR_000678 R193Q ARLY_HUMAN VAR_000679 Q286R ARLY_HUMAN VAR_017572 V178M ARLY_HUMAN VAR_017573 R379C ARLY_HUMAN VAR_017574 R385C ARSA_HUMAN VAR_007245 R84Q ARSA_HUMAN VAR_007246 G86D ARSA_HUMAN VAR_007247 S95N ARSA_HUMAN VAR_007248 S96F ARSA_HUMAN VAR_007249 S96L ARSA_HUMAN VAR_007250 G99D ARSA_HUMAN VAR_007251 G119R ARSA_HUMAN VAR_007252 G122S ARSA_HUMAN VAR_007253 L135P ARSA_HUMAN VAR_007254 P136L ARSA_HUMAN VAR_007255 D152Y ARSA_HUMAN VAR_007256 G154D ARSA_HUMAN VAR_007257 P155R ARSA_HUMAN VAR_007258 P167R ARSA_HUMAN VAR_007259 D169N ARSA_HUMAN VAR_007260 C172Y ARSA_HUMAN VAR_007261 I179S ARSA_HUMAN VAR_007263 Y201C ARSA_HUMAN VAR_007264 A212V ARSA_HUMAN VAR_007265 A224V ARSA_HUMAN VAR_007266 P231T ARSA_HUMAN VAR_007267 R244C ARSA_HUMAN VAR_007268 R244H ARSA_HUMAN VAR_007269 G245R ARSA_HUMAN VAR_007270 S250Y ARSA_HUMAN VAR_007271 T274M ARSA_HUMAN VAR_007272 R288C ARSA_HUMAN VAR_007273 S295Y ARSA_HUMAN VAR_007274 G309S ARSA_HUMAN VAR_007275 R311Q ARSA_HUMAN VAR_007276 A314T ARSA_HUMAN VAR_007277 D335V ARSA_HUMAN VAR_007279 K367N ARSA_HUMAN VAR_007280 R370Q ARSA_HUMAN VAR_007281 R370W ARSA_HUMAN VAR_007282 P377L ARSA_HUMAN VAR_007283 E382K ARSA_HUMAN VAR_007284 R384C ARSA_HUMAN VAR_007285 R390Q ARSA_HUMAN VAR_007286 R390W ARSA_HUMAN VAR_007288 H397Y ARSA_HUMAN VAR_007291 P426L ARSA_HUMAN VAR_008132 C300F ARSA_HUMAN VAR_008133 P425T ARSB_HUMAN VAR_007294 T92M ARSB_HUMAN VAR_007295 R95Q ARSB_HUMAN VAR_007296 C117R ARSB_HUMAN VAR_007297 G137V ARSB_HUMAN VAR_007298 R152W ARSB_HUMAN VAR_007299 R160Q ARSB_HUMAN VAR_007300 Y210C ARSB_HUMAN VAR_007301 L236P ARSB_HUMAN VAR_007302 G302R ARSB_HUMAN VAR_007304 H393P ARSB_HUMAN VAR_007305 C405Y ARSB_HUMAN VAR_007306 L498P ARSB_HUMAN VAR_019017 S65F ARSB_HUMAN VAR_019019 P116H ARSB_HUMAN VAR_019020 M142I ARSB_HUMAN VAR_019021 G144R ARSB_HUMAN VAR_019022 W146L ARSB_HUMAN VAR_019023 W146R ARSB_HUMAN VAR_019024 W146S ARSB_HUMAN VAR_019025 C192R ARSB_HUMAN VAR_019026 Q239R ARSB_HUMAN VAR_019027 W312C ARSB_HUMAN VAR_019028 R315Q ARSB_HUMAN VAR_019029 L321P ARSB_HUMAN VAR_019031 F399L ARSB_HUMAN VAR_019032 R484G ARSB_HUMAN VAR_019033 C521Y ARSB_HUMAN VAR_019034 P531R ARSE_HUMAN VAR_007307 R12S ARSE_HUMAN VAR_007308 R111P ARSE_HUMAN VAR_007309 G117R ARSE_HUMAN VAR_007310 G137V ARSE_HUMAN VAR_007311 G245R ARSE_HUMAN VAR_007312 C492Y ARSE_HUMAN VAR_023570 I80N ARSE_HUMAN VAR_023571 T481M ARSE_HUMAN VAR_023572 P578S ARX_HUMAN VAR_015178 R332H ARX_HUMAN VAR_015179 L343Q ARX_HUMAN VAR_015180 P353L ARX_HUMAN VAR_015669 L33P ARX_HUMAN VAR_015671 G286S ASAH1_HUMAN VAR_008862 T222K ASAH1_HUMAN VAR_021579 Y36C ASAH1_HUMAN VAR_021581 V97E ASAH1_HUMAN VAR_021582 E138V ASAH1_HUMAN VAR_021583 G235R ASAH1_HUMAN VAR_021584 R254G ASAH1_HUMAN VAR_021585 N320D ASAH1_HUMAN VAR_021586 P362R ASM_HUMAN VAR_005058 G242R ASM_HUMAN VAR_005059 E246Q ASM_HUMAN VAR_005060 L302P ASM_HUMAN VAR_005061 M382I ASM_HUMAN VAR_005062 N383S ASM_HUMAN VAR_005063 N389T ASM_HUMAN VAR_005064 W391G ASM_HUMAN VAR_005065 S436R ASM_HUMAN VAR_005066 R496L ASM_HUMAN VAR_005067 G577S ASM_HUMAN VAR_011388 Y446C ASM_HUMAN VAR_015287 S248R ASM_HUMAN VAR_015288 H319Y ASM_HUMAN VAR_015289 P371S ASM_HUMAN VAR_015290 H421Y ASM_HUMAN VAR_015291 F463S ASM_HUMAN VAR_015292 P475L ASM_HUMAN VAR_015293 Y537H ASPG_HUMAN VAR_005069 G60D ASPG_HUMAN VAR_005070 S72P ASPG_HUMAN VAR_005071 A101V ASPG_HUMAN VAR_005072 R161Q ASPG_HUMAN VAR_005073 C163S ASPG_HUMAN VAR_005074 G302R ASPG_HUMAN VAR_005075 C306R ASPG_HUMAN VAR_015427 V12L ASPG_HUMAN VAR_015428 G100E ASPG_HUMAN VAR_015429 F135S ASPG_HUMAN VAR_015430 G252E ASPG_HUMAN VAR_015431 G252R ASPG_HUMAN VAR_015432 T257I ASSY_HUMAN VAR_000681 G14S ASSY_HUMAN VAR_000682 S18L ASSY_HUMAN VAR_000683 R86C ASSY_HUMAN VAR_000684 A118T ASSY_HUMAN VAR_000685 R157H ASSY_HUMAN VAR_000686 S180N ASSY_HUMAN VAR_000687 A192V ASSY_HUMAN VAR_000688 R272C ASSY_HUMAN VAR_000689 G280R ASSY_HUMAN VAR_000690 R304W ASSY_HUMAN VAR_000691 G324S ASSY_HUMAN VAR_000692 R363L ASSY_HUMAN VAR_000693 R363W ASSY_HUMAN VAR_000694 G390R ASSY_HUMAN VAR_015891 C19R ASSY_HUMAN VAR_015892 R86H ASSY_HUMAN VAR_015893 R95S ASSY_HUMAN VAR_015894 P96S ASSY_HUMAN VAR_015895 G117S ASSY_HUMAN VAR_015896 G117D ASSY_HUMAN VAR_015897 R157C ASSY_HUMAN VAR_015898 W179R ASSY_HUMAN VAR_015899 E191K ASSY_HUMAN VAR_015900 R265H ASSY_HUMAN VAR_015901 V269M ASSY_HUMAN VAR_015902 E283K ASSY_HUMAN VAR_015903 K310R ASSY_HUMAN VAR_015904 G362V ASSY_HUMAN VAR_016007 E270Q ASSY_HUMAN VAR_016008 R279Q ASSY_HUMAN VAR_016009 K310Q ASSY_HUMAN VAR_016010 R363G ASSY_HUMAN VAR_016011 R363Q ASSY_HUMAN VAR_016012 T389I ASSY_HUMAN VAR_016013 V69A ASSY_HUMAN VAR_016014 R108L ASSY_HUMAN VAR_016015 T119I AT1A2_HUMAN VAR_019934 T378N AT1A2_HUMAN VAR_019935 R689Q AT1A2_HUMAN VAR_019936 M731T AT1A2_HUMAN VAR_019937 L764P AT1A2_HUMAN VAR_019938 W887R AT2A1_HUMAN VAR_015588 P789L AT2A2_HUMAN VAR_008608 G23E AT2A2_HUMAN VAR_008609 N39T AT2A2_HUMAN VAR_008611 L65S AT2A2_HUMAN VAR_008612 R131Q AT2A2_HUMAN VAR_008613 P160L AT2A2_HUMAN VAR_008614 S186P AT2A2_HUMAN VAR_008615 G211D AT2A2_HUMAN VAR_008616 V223M AT2A2_HUMAN VAR_008617 C268F AT2A2_HUMAN VAR_008618 G310V AT2A2_HUMAN VAR_008619 C318R AT2A2_HUMAN VAR_008620 I348T AT2A2_HUMAN VAR_008621 E412G AT2A2_HUMAN VAR_008622 S495F AT2A2_HUMAN VAR_008623 C560R AT2A2_HUMAN VAR_008624 F675S AT2A2_HUMAN VAR_008625 K683E AT2A2_HUMAN VAR_008626 D702N AT2A2_HUMAN VAR_008627 A745D AT2A2_HUMAN VAR_008629 S765L AT2A2_HUMAN VAR_008630 N767S AT2A2_HUMAN VAR_008631 G769R AT2A2_HUMAN VAR_008632 A803T AT2A2_HUMAN VAR_008633 A838P AT2A2_HUMAN VAR_008634 V843F AT2A2_HUMAN VAR_008635 C875G AT2A2_HUMAN VAR_008636 S920Y AT2A2_HUMAN VAR_008637 H943R AT2A2_HUMAN VAR_008638 P975R AT2A2_HUMAN VAR_009508 T357K AT2A2_HUMAN VAR_009509 G749R AT2A2_HUMAN VAR_017532 P602L AT2C1_HUMAN VAR_008803 A304T AT2C1_HUMAN VAR_008804 L318P AT2C1_HUMAN VAR_008805 M641R AT2C1_HUMAN VAR_008806 G645R AT2C1_HUMAN VAR_008807 T709M AT2C1_HUMAN VAR_008808 P744R AT2C1_HUMAN VAR_010130 P201L AT2C1_HUMAN VAR_019523 C490F AT2C1_HUMAN VAR_019524 L584P AT2C1_HUMAN VAR_022672 G309C AT2C1_HUMAN VAR_022673 L341P AT8B1_HUMAN VAR_008809 L288S AT8B1_HUMAN VAR_008810 G308V AT8B1_HUMAN VAR_008812 I661T AT8B1_HUMAN VAR_008813 G892R AT8B1_HUMAN VAR_015423 D554N ATCAY_HUMAN VAR_017164 S301R ATM_HUMAN VAR_010801 K224E ATM_HUMAN VAR_010802 P292L ATM_HUMAN VAR_010803 I323V ATM_HUMAN VAR_010808 F570S ATM_HUMAN VAR_010812 N768D ATM_HUMAN VAR_010813 R785C ATM_HUMAN VAR_010815 L950R ATM_HUMAN VAR_010816 L1001Q ATM_HUMAN VAR_010819 H1082L ATM_HUMAN VAR_010820 E1091D ATM_HUMAN VAR_010823 L1420P ATM_HUMAN VAR_010826 L1465P ATM_HUMAN VAR_010827 P1566R ATM_HUMAN VAR_010831 T1743I ATM_HUMAN VAR_010836 V1913G ATM_HUMAN VAR_010838 D2016G ATM_HUMAN VAR_010839 G2063E ATM_HUMAN VAR_010840 A2067D ATM_HUMAN VAR_010844 S2218C ATM_HUMAN VAR_010846 R2227C ATM_HUMAN VAR_010858 Y2470D ATM_HUMAN VAR_010860 W2491R ATM_HUMAN VAR_010862 H2554D ATM_HUMAN VAR_010863 D2625Q ATM_HUMAN VAR_010865 L2656P ATM_HUMAN VAR_010868 E2668G ATM_HUMAN VAR_010870 I2702R ATM_HUMAN VAR_010874 A2726V ATM_HUMAN VAR_010878 C2824Y ATM_HUMAN VAR_010879 F2827C ATM_HUMAN VAR_010880 P2829L ATM_HUMAN VAR_010881 R2832C ATM_HUMAN VAR_010882 R2849P ATM_HUMAN VAR_010883 S2855R ATM_HUMAN VAR_010886 G2867R ATM_HUMAN VAR_010889 E2904G ATM_HUMAN VAR_010890 R2909G ATM_HUMAN VAR_010893 R3008C ATNG_HUMAN VAR_013280 G41R ATP6_HUMAN VAR_000793 L156R ATP6_HUMAN VAR_000794 L156P ATP6_HUMAN VAR_000795 I192T ATP6_HUMAN VAR_000797 L217P ATP7A_HUMAN VAR_000699 A629P ATP7A_HUMAN VAR_000700 G727R ATP7A_HUMAN VAR_000701 L1006P ATP7A_HUMAN VAR_000702 G1019D ATP7A_HUMAN VAR_009999 S637L ATP7A_HUMAN VAR_010001 L873R ATP7A_HUMAN VAR_010002 G876E ATP7A_HUMAN VAR_010003 C1000R ATP7A_HUMAN VAR_010004 G1300E ATP7A_HUMAN VAR_010005 G1302R ATP7A_HUMAN VAR_010006 G1302V ATP7A_HUMAN VAR_010007 D1305A ATP7A_HUMAN VAR_010008 A1362V ATP7A_HUMAN VAR_023261 L706R ATP7A_HUMAN VAR_023262 R844H ATP7A_HUMAN VAR_023263 G853R ATP7A_HUMAN VAR_023264 G860V ATP7A_HUMAN VAR_023265 G876R ATP7A_HUMAN VAR_023266 Q924R ATP7A_HUMAN VAR_023267 A1007V ATP7A_HUMAN VAR_023268 G1015D ATP7A_HUMAN VAR_023269 D1044G ATP7A_HUMAN VAR_023270 L1100P ATP7A_HUMAN VAR_023271 G1118D ATP7A_HUMAN VAR_023272 G1255R ATP7A_HUMAN VAR_023273 K1282E ATP7A_HUMAN VAR_023274 N1304K ATP7A_HUMAN VAR_023275 G1315R ATP7A_HUMAN VAR_023276 A1325V ATP7A_HUMAN VAR_023277 S1344R ATP7A_HUMAN VAR_023278 I1345F ATP7A_HUMAN VAR_023279 G1369R ATP7A_HUMAN VAR_023280 S1397F ATP7B_HUMAN VAR_000703 G85V ATP7B_HUMAN VAR_000710 L492S ATP7B_HUMAN VAR_000712 G626A ATP7B_HUMAN VAR_000713 D642H ATP7B_HUMAN VAR_000714 M645R ATP7B_HUMAN VAR_000715 M665I ATP7B_HUMAN VAR_000716 G691R ATP7B_HUMAN VAR_000717 L708P ATP7B_HUMAN VAR_000718 G710R ATP7B_HUMAN VAR_000719 G710S ATP7B_HUMAN VAR_000720 G711E ATP7B_HUMAN VAR_000721 Y713C ATP7B_HUMAN VAR_000723 I747F ATP7B_HUMAN VAR_000724 D765N ATP7B_HUMAN VAR_000725 M769V ATP7B_HUMAN VAR_000727 R778G ATP7B_HUMAN VAR_000728 R778L ATP7B_HUMAN VAR_000729 R778Q ATP7B_HUMAN VAR_000730 R778W ATP7B_HUMAN VAR_000731 L795F ATP7B_HUMAN VAR_000733 P840L ATP7B_HUMAN VAR_000734 I857T ATP7B_HUMAN VAR_000736 G869R ATP7B_HUMAN VAR_000737 A874V ATP7B_HUMAN VAR_000738 D918N ATP7B_HUMAN VAR_000739 R919G ATP7B_HUMAN VAR_000740 R919W ATP7B_HUMAN VAR_000741 S921N ATP7B_HUMAN VAR_000742 T933P ATP7B_HUMAN VAR_000743 T935M ATP7B_HUMAN VAR_000744 G943D ATP7B_HUMAN VAR_000745 G943S ATP7B_HUMAN VAR_000747 R969Q ATP7B_HUMAN VAR_000748 T977M ATP7B_HUMAN VAR_000749 P992L ATP7B_HUMAN VAR_000751 A1003T ATP7B_HUMAN VAR_000752 A1018V ATP7B_HUMAN VAR_000753 G1035V ATP7B_HUMAN VAR_000754 R1041W ATP7B_HUMAN VAR_000755 L1043P ATP7B_HUMAN VAR_000756 E1064A ATP7B_HUMAN VAR_000757 E1064K ATP7B_HUMAN VAR_000758 H1069Q ATP7B_HUMAN VAR_000759 L1083F ATP7B_HUMAN VAR_000760 G1089E ATP7B_HUMAN VAR_000761 G1089V ATP7B_HUMAN VAR_000762 G1101R ATP7B_HUMAN VAR_000763 I1102T ATP7B_HUMAN VAR_000766 Q1142H ATP7B_HUMAN VAR_000767 V1146M ATP7B_HUMAN VAR_000768 I1148T ATP7B_HUMAN VAR_000769 W1153C ATP7B_HUMAN VAR_000771 A1183G ATP7B_HUMAN VAR_000772 A1183T ATP7B_HUMAN VAR_000773 G1186C ATP7B_HUMAN VAR_000774 G1186S ATP7B_HUMAN VAR_000775 G1213V ATP7B_HUMAN VAR_000776 V1216M ATP7B_HUMAN VAR_000778 T1220M ATP7B_HUMAN VAR_000779 D1222Y ATP7B_HUMAN VAR_000781 G1266V ATP7B_HUMAN VAR_000782 D1267A ATP7B_HUMAN VAR_000783 N1270S ATP7B_HUMAN VAR_000784 P1273L ATP7B_HUMAN VAR_000785 A1278V ATP7B_HUMAN VAR_000787 S1310R ATP7B_HUMAN VAR_000788 R1322P ATP7B_HUMAN VAR_000789 G1341D ATP7B_HUMAN VAR_000790 W1353R ATP7B_HUMAN VAR_000791 A1358S ATP7B_HUMAN VAR_009004 R616Q ATP7B_HUMAN VAR_009006 G711R ATP7B_HUMAN VAR_009007 G711W ATP7B_HUMAN VAR_009008 S744P ATP7B_HUMAN VAR_009009 M769R ATP7B_HUMAN VAR_009010 L795R ATP7B_HUMAN VAR_009011 G869V ATP7B_HUMAN VAR_009012 C985Y ATP7B_HUMAN VAR_009013 A1003V ATP7B_HUMAN VAR_009014 T1033A ATP7B_HUMAN VAR_009015 R1041P ATP7B_HUMAN VAR_009016 P1052L ATP7B_HUMAN VAR_009017 G1061E ATP7B_HUMAN VAR_009018 A1063V ATP7B_HUMAN VAR_009019 E1068G ATP7B_HUMAN VAR_009020 Q1095P ATP7B_HUMAN VAR_009021 C1104F ATP7B_HUMAN VAR_009022 R1151H ATP7B_HUMAN VAR_009023 M1169T ATP7B_HUMAN VAR_009024 E1173K ATP7B_HUMAN VAR_009026 V1239G ATP7B_HUMAN VAR_009027 V1262F ATP7B_HUMAN VAR_009028 G1266R ATP7B_HUMAN VAR_009030 L1327V ATP7B_HUMAN VAR_009031 S1363F ATP7B_HUMAN VAR_009032 T1434M ATP7B_HUMAN VAR_010010 G710A ATP7B_HUMAN VAR_010011 Y741C ATP7B_HUMAN VAR_010012 G891V ATP7B_HUMAN VAR_010013 I967F ATP7B_HUMAN VAR_010014 T1031I ATP7B_HUMAN VAR_010015 R1038K ATP7B_HUMAN VAR_010017 V1106D ATP7B_HUMAN VAR_010018 W1153R ATP7B_HUMAN VAR_010019 G1176R ATP7B_HUMAN VAR_010020 D1222V ATP7B_HUMAN VAR_010021 G1355S ATP7B_HUMAN VAR_023011 N41S ATP7B_HUMAN VAR_023012 R616W ATP7B_HUMAN VAR_023013 L641S ATP7B_HUMAN VAR_023014 P690L ATP7B_HUMAN VAR_023015 S693C ATP7B_HUMAN VAR_023016 S721P ATP7B_HUMAN VAR_023017 T737R ATP7B_HUMAN VAR_023018 P760L ATP7B_HUMAN VAR_023019 D765G ATP7B_HUMAN VAR_023020 P768H ATP7B_HUMAN VAR_023021 M769I ATP7B_HUMAN VAR_023023 V890M ATP7B_HUMAN VAR_023024 Q898R ATP7B_HUMAN VAR_023025 D918E ATP7B_HUMAN VAR_023026 V949G ATP7B_HUMAN VAR_023027 S975Y ATP7B_HUMAN VAR_023028 T1033S ATP7B_HUMAN VAR_023029 F1094L ATP7B_HUMAN VAR_023030 P1098R ATP7B_HUMAN VAR_023031 G1099S ATP7B_HUMAN VAR_023032 G1111D ATP7B_HUMAN VAR_023034 A1168S ATP7B_HUMAN VAR_023035 T1232P ATP7B_HUMAN VAR_023037 K1248N ATP7B_HUMAN VAR_023038 L1255I ATP7B_HUMAN VAR_023039 D1271N ATP7B_HUMAN VAR_023040 D1279G ATP7B_HUMAN VAR_023041 L1305P ATP7B_HUMAN VAR_023042 I1336T ATP7B_HUMAN VAR_023043 G1355C ATP7B_HUMAN VAR_023044 L1373P ATP7B_HUMAN VAR_023045 L1373R ATPF2_HUMAN VAR_023386 W94G ATRX_HUMAN VAR_001226 P190A ATRX_HUMAN VAR_001227 L192F ATRX_HUMAN VAR_001228 C200S ATRX_HUMAN VAR_001229 C220R ATRX_HUMAN VAR_001230 W222S ATRX_HUMAN VAR_001231 C243F ATRX_HUMAN VAR_001232 R246C ATRX_HUMAN VAR_001233 G249D ATRX_HUMAN VAR_001234 H1609R ATRX_HUMAN VAR_001235 C1614R ATRX_HUMAN VAR_001236 K1650N ATRX_HUMAN VAR_001238 D2035V ATRX_HUMAN VAR_001239 Y2084H ATRX_HUMAN VAR_001240 R2131Q ATRX_HUMAN VAR_001241 Y2163C ATRX_HUMAN VAR_010914 R246L ATRX_HUMAN VAR_012113 G175E ATRX_HUMAN VAR_012115 N179S ATRX_HUMAN VAR_012116 P190L ATRX_HUMAN VAR_012117 P190S ATRX_HUMAN VAR_012118 V194I ATRX_HUMAN VAR_012119 Q219P ATRX_HUMAN VAR_012120 G249C ATRX_HUMAN VAR_012121 V1538G ATRX_HUMAN VAR_012122 V1552F ATRX_HUMAN VAR_012123 L1645S ATRX_HUMAN VAR_012124 P1713S ATRX_HUMAN VAR_012125 R1742K ATRX_HUMAN VAR_012126 Y1847C ATRX_HUMAN VAR_012127 I2050T ATRX_HUMAN VAR_016916 T1621M ATTY_HUMAN VAR_000560 G362V AUMH_HUMAN VAR_016911 A240V AVR2B_HUMAN VAR_013281 R40H AVR2B_HUMAN VAR_013282 V494I B3AT_HUMAN VAR_000800 P327R B3AT_HUMAN VAR_000802 R518C B3AT_HUMAN VAR_013784 E90K B3AT_HUMAN VAR_013785 G130R B3AT_HUMAN VAR_013786 P147S B3AT_HUMAN VAR_013787 A285D B3AT_HUMAN VAR_013789 G455E B3AT_HUMAN VAR_013791 V488M B3AT_HUMAN VAR_013792 R490C B3AT_HUMAN VAR_013804 L707P B3AT_HUMAN VAR_013805 G714R B3AT_HUMAN VAR_013806 R760Q B3AT_HUMAN VAR_013807 R760W B3AT_HUMAN VAR_013808 G771D B3AT_HUMAN VAR_013809 I783N B3AT_HUMAN VAR_013810 R808C B3AT_HUMAN VAR_013811 R808H B3AT_HUMAN VAR_013812 H834P B3AT_HUMAN VAR_013813 T837A B3AT_HUMAN VAR_013814 T837M B3AT_HUMAN VAR_013815 P868L B3AT_HUMAN VAR_013816 R870W B3AT_HUMAN VAR_015104 R589C B3AT_HUMAN VAR_015105 R589H B3AT_HUMAN VAR_015106 R589S B3AT_HUMAN VAR_015107 S613F B3AT_HUMAN VAR_015108 A858D B3AT_HUMAN VAR_015171 G701D B4GT7_HUMAN VAR_010293 A186D B4GT7_HUMAN VAR_010294 L206P BAT1_HUMAN VAR_010256 G105R BAT1_HUMAN VAR_010257 V170M BAT1_HUMAN VAR_010258 A182T BAT1_HUMAN VAR_010259 G195R BAT1_HUMAN VAR_010260 G259R BAT1_HUMAN VAR_014363 I44T BAT1_HUMAN VAR_014364 P261L BAT1_HUMAN VAR_014365 A354T BAT1_HUMAN VAR_015885 V330M BAT1_HUMAN VAR_018998 P52L BAT1_HUMAN VAR_018999 G63R BAT1_HUMAN VAR_019000 W69L BAT1_HUMAN VAR_019001 A70V BAT1_HUMAN VAR_019002 T123M BAT1_HUMAN VAR_019003 A126T BAT1_HUMAN VAR_019005 I187F BAT1_HUMAN VAR_019008 W230R BAT1_HUMAN VAR_019009 I241T BAT1_HUMAN VAR_019011 R333W BAT1_HUMAN VAR_019012 S379R BAT1_HUMAN VAR_019013 A382T BAT1_HUMAN VAR_022603 A224V BAT1_HUMAN VAR_022604 A331V BBS1_HUMAN VAR_017215 E234K BBS1_HUMAN VAR_017216 M390R BBS1_HUMAN VAR_017217 L518P BBS2_HUMAN VAR_013162 N70S BBS2_HUMAN VAR_013163 V75G BBS2_HUMAN VAR_013164 D104A BBS2_HUMAN VAR_013166 R315Q BBS2_HUMAN VAR_013167 R315W BBS2_HUMAN VAR_013168 T558I BBS2_HUMAN VAR_013169 R632P BBS4_HUMAN VAR_013170 R295P BBS4_HUMAN VAR_017049 N165H BBS4_HUMAN VAR_017050 L327P BBS4_HUMAN VAR_017051 A364E BBS4_HUMAN VAR_017052 S457I BBS7_HUMAN VAR_017212 T211I BBS7_HUMAN VAR_017213 H323R BCOR_HUMAN VAR_020921 P85L BCS1_HUMAN VAR_018149 S78G BCS1_HUMAN VAR_018159 P99L BCS1_HUMAN VAR_018160 R144Q BCS1_HUMAN VAR_018161 R155P BCS1_HUMAN VAR_018162 S277N BCS1_HUMAN VAR_018163 V327A BCS1_HUMAN VAR_018164 V353M BFSP2_HUMAN VAR_012164 R287W BGAL_HUMAN VAR_003329 R49C BGAL_HUMAN VAR_003330 I51T BGAL_HUMAN VAR_003331 G123R BGAL_HUMAN VAR_003332 R201C BGAL_HUMAN VAR_003333 W273L BGAL_HUMAN VAR_003334 Y316C BGAL_HUMAN VAR_003335 R457Q BGAL_HUMAN VAR_003336 R482H BGAL_HUMAN VAR_003337 W509C BGAL_HUMAN VAR_008672 R59H BGAL_HUMAN VAR_008673 T82M BGAL_HUMAN VAR_008674 Y83H BGAL_HUMAN VAR_008675 R121S BGAL_HUMAN VAR_008676 R208C BGAL_HUMAN VAR_008677 V240M BGAL_HUMAN VAR_008678 R482C BGAL_HUMAN VAR_008679 D491N BGAL_HUMAN VAR_008682 K578R BGAL_HUMAN VAR_008683 R590H BGAL_HUMAN VAR_008684 Y591C BGAL_HUMAN VAR_008685 Y591N BGAL_HUMAN VAR_008686 E632G BGAL_HUMAN VAR_013541 R148S BGAL_HUMAN VAR_013542 R201H BGAL_HUMAN VAR_013543 D214Y BGAL_HUMAN VAR_013544 V216A BGAL_HUMAN VAR_013545 P263S BGAL_HUMAN VAR_013546 N266S BGAL_HUMAN VAR_013549 D332N BGAL_HUMAN VAR_013550 Q408P BGAL_HUMAN VAR_013551 G438E BGAL_HUMAN VAR_013552 N484K BGAL_HUMAN VAR_013553 G494C BGAL_HUMAN VAR_013554 T500A BGAL_HUMAN VAR_013555 G579D BGH3_HUMAN VAR_005076 R124C BGH3_HUMAN VAR_005077 R124H BGH3_HUMAN VAR_005078 R124L BGH3_HUMAN VAR_005079 P501T BGH3_HUMAN VAR_005080 L527R BGH3_HUMAN VAR_005082 R555Q BGH3_HUMAN VAR_005083 R555W BGH3_HUMAN VAR_012444 R124S BGH3_HUMAN VAR_012446 L518P BGH3_HUMAN VAR_012448 A546T BGH3_HUMAN VAR_012450 H626R BGH3_HUMAN VAR_018484 L518R BGH3_HUMAN VAR_018485 T538R BGH3_HUMAN VAR_018486 N622K BGH3_HUMAN VAR_018487 G623D BGH3_HUMAN VAR_018488 H626P BGLR_HUMAN VAR_003196 R216W BGLR_HUMAN VAR_003197 A354V BGLR_HUMAN VAR_003198 R382C BGLR_HUMAN VAR_003199 R611W BGLR_HUMAN VAR_003200 A619V BGLR_HUMAN VAR_003201 W627C BLM_HUMAN VAR_006901 Q672R BLM_HUMAN VAR_006902 T843I BLM_HUMAN VAR_006903 C1055S BLM_HUMAN VAR_009138 G891E BLM_HUMAN VAR_009139 C901Y BLM_HUMAN VAR_009140 C1036F BLM_HUMAN VAR_016032 I841T BLM_HUMAN VAR_016033 C878R BMP15_HUMAN VAR_021195 Y235C BMPR2_HUMAN VAR_013670 C60Y BMPR2_HUMAN VAR_013671 C117Y BMPR2_HUMAN VAR_013672 C118W BMPR2_HUMAN VAR_013673 C123R BMPR2_HUMAN VAR_013674 C123S BMPR2_HUMAN VAR_013676 C347Y BMPR2_HUMAN VAR_013677 C420R BMPR2_HUMAN VAR_013678 C483R BMPR2_HUMAN VAR_013679 D485G BMPR2_HUMAN VAR_013680 R491Q BMPR2_HUMAN VAR_013681 R491W BMPR2_HUMAN VAR_013682 K512T BMPR2_HUMAN VAR_013683 N519K BMR1A_HUMAN VAR_015533 C124R BMR1A_HUMAN VAR_015534 A338D BMR1A_HUMAN VAR_015535 C376Y BMR1A_HUMAN VAR_022828 Y62D BMR1A_HUMAN VAR_022829 C82Y BMR1A_HUMAN VAR_022830 C130R BMR1A_HUMAN VAR_022831 R443C BMR1A_HUMAN VAR_022832 M470T BPL1_HUMAN VAR_005084 L237P BPL1_HUMAN VAR_009196 V333E BPL1_HUMAN VAR_009197 T462I BPL1_HUMAN VAR_009198 V550M BPL1_HUMAN VAR_009199 D571N BPL1_HUMAN VAR_009200 G581S BPL1_HUMAN VAR_013009 R508W BPL1_HUMAN VAR_021218 L216R BPL1_HUMAN VAR_021219 N511K BPL1_HUMAN VAR_021220 G582R BSCL2_HUMAN VAR_022375 N88S BSCL2_HUMAN VAR_022376 S90L BSCL2_HUMAN VAR_022377 A212P BSND_HUMAN VAR_019783 R8L BSND_HUMAN VAR_019784 R8W BSND_HUMAN VAR_019785 G10S BSND_HUMAN VAR_019786 G47R BTD_HUMAN VAR_005113 F108V BTD_HUMAN VAR_005114 A151T BTD_HUMAN VAR_005115 D208Y BTD_HUMAN VAR_005116 H303R BTD_HUMAN VAR_005117 D424H BTD_HUMAN VAR_005118 G431D BTD_HUMAN VAR_005119 Q436H BTD_HUMAN VAR_005120 T512M BTD_HUMAN VAR_005121 R518C BTK_HUMAN VAR_006216 L11P BTK_HUMAN VAR_006217 K12R BTK_HUMAN VAR_006218 S14F BTK_HUMAN VAR_006219 F25S BTK_HUMAN VAR_006220 R28H BTK_HUMAN VAR_006221 R28P BTK_HUMAN VAR_006222 T33P BTK_HUMAN VAR_006223 V64F BTK_HUMAN VAR_006225 V113D BTK_HUMAN VAR_006227 R288W BTK_HUMAN VAR_006228 L295P BTK_HUMAN VAR_006230 G302E BTK_HUMAN VAR_006231 R307G BTK_HUMAN VAR_006232 Y334S BTK_HUMAN VAR_006233 L358F BTK_HUMAN VAR_006234 Y361C BTK_HUMAN VAR_006235 H362Q BTK_HUMAN VAR_006236 H364P BTK_HUMAN VAR_006237 N365Y BTK_HUMAN VAR_006238 I370M BTK_HUMAN VAR_006239 L408P BTK_HUMAN VAR_006240 Y418H BTK_HUMAN VAR_006241 I429N BTK_HUMAN VAR_006242 K430E BTK_HUMAN VAR_006243 Y476D BTK_HUMAN VAR_006244 M477R BTK_HUMAN VAR_006245 C502F BTK_HUMAN VAR_006246 C502W BTK_HUMAN VAR_006247 C506R BTK_HUMAN VAR_006248 C506Y BTK_HUMAN VAR_006249 M509V BTK_HUMAN VAR_006251 R520Q BTK_HUMAN VAR_006252 D521H BTK_HUMAN VAR_006253 D521N BTK_HUMAN VAR_006254 R525P BTK_HUMAN VAR_006255 R525Q BTK_HUMAN VAR_006256 N526K BTK_HUMAN VAR_006257 L542P BTK_HUMAN VAR_006258 R544K BTK_HUMAN VAR_006259 R562P BTK_HUMAN VAR_006260 R562W BTK_HUMAN VAR_006261 E567K BTK_HUMAN VAR_006262 W581R BTK_HUMAN VAR_006263 A582V BTK_HUMAN VAR_006264 M587L BTK_HUMAN VAR_006265 E589G BTK_HUMAN VAR_006267 S592P BTK_HUMAN VAR_006268 G594E BTK_HUMAN VAR_006269 G594R BTK_HUMAN VAR_006270 Y598C BTK_HUMAN VAR_006271 A607D BTK_HUMAN VAR_006272 G613D BTK_HUMAN VAR_006273 P619S BTK_HUMAN VAR_006275 M630K BTK_HUMAN VAR_006276 C633Y BTK_HUMAN VAR_006277 R641C BTK_HUMAN VAR_006278 R641H BTK_HUMAN VAR_006279 F644S BTK_HUMAN VAR_006280 L647P BTK_HUMAN VAR_006281 L652P BTK_HUMAN VAR_008291 K19E BTK_HUMAN VAR_008292 K27R BTK_HUMAN VAR_008293 R28C BTK_HUMAN VAR_008294 Y40C BTK_HUMAN VAR_008295 Y40N BTK_HUMAN VAR_008296 I61N BTK_HUMAN VAR_008297 V64D BTK_HUMAN VAR_008298 S115F BTK_HUMAN VAR_008299 T117P BTK_HUMAN VAR_008300 Q127H BTK_HUMAN VAR_008301 C154S BTK_HUMAN VAR_008302 C155G BTK_HUMAN VAR_008303 C155R BTK_HUMAN VAR_008304 T184P BTK_HUMAN VAR_008305 R288Q BTK_HUMAN VAR_008306 G302R BTK_HUMAN VAR_008307 R307T BTK_HUMAN VAR_008308 D308E BTK_HUMAN VAR_008309 V319A BTK_HUMAN VAR_008310 S366F BTK_HUMAN VAR_008311 L369F BTK_HUMAN VAR_008312 R372G BTK_HUMAN VAR_008313 G414R BTK_HUMAN VAR_008314 K430R BTK_HUMAN VAR_008315 E445D BTK_HUMAN VAR_008316 G462D BTK_HUMAN VAR_008317 G462V BTK_HUMAN VAR_008318 A508D BTK_HUMAN VAR_008319 M509I BTK_HUMAN VAR_008320 L518R BTK_HUMAN VAR_008321 D521G BTK_HUMAN VAR_008322 A523E BTK_HUMAN VAR_008323 R525G BTK_HUMAN VAR_008324 V535F BTK_HUMAN VAR_008325 F559S BTK_HUMAN VAR_008326 W563L BTK_HUMAN VAR_008327 F583S BTK_HUMAN VAR_008328 E589D BTK_HUMAN VAR_008329 G594Q BTK_HUMAN VAR_008330 P619A BTK_HUMAN VAR_008331 P619T BTK_HUMAN VAR_008332 A622P BTK_HUMAN VAR_008333 V626G BTK_HUMAN VAR_008334 M630T BTK_HUMAN VAR_008335 F644L BTK_HUMAN VAR_008960 Y39S BTK_HUMAN VAR_008961 L512P BTK_HUMAN VAR_008962 L512Q BTK_HUMAN VAR_008963 R544G BTK_HUMAN VAR_008964 S578Y BTK_HUMAN VAR_008965 E589K C11B1_HUMAN VAR_001260 P42S C11B1_HUMAN VAR_001261 N133H C11B1_HUMAN VAR_001262 T318M C11B1_HUMAN VAR_001263 T319M C11B1_HUMAN VAR_001264 R374Q C11B1_HUMAN VAR_001265 R448H C11B2_HUMAN VAR_001267 R181W C11B2_HUMAN VAR_001268 E198D C11B2_HUMAN VAR_018471 T185I C11B2_HUMAN VAR_018472 L461P C11B2_HUMAN VAR_018473 T498A C1QB_HUMAN VAR_008541 G40D C1QC_HUMAN VAR_008542 G43R CAC1A_HUMAN VAR_001491 R192Q CAC1A_HUMAN VAR_001492 T666M CAC1A_HUMAN VAR_001493 V714A CAC1A_HUMAN VAR_001494 I1810L CAC1F_HUMAN VAR_001504 G369D CAC1F_HUMAN VAR_001505 R508Q CAC1F_HUMAN VAR_001506 R1049W CAC1F_HUMAN VAR_001507 L1364H CAC1S_HUMAN VAR_001499 R528H CAC1S_HUMAN VAR_001501 R1239G CAC1S_HUMAN VAR_001502 R1239H CAD23_HUMAN VAR_012169 D990N CAD23_HUMAN VAR_012174 Q1496H CAD23_HUMAN VAR_012178 R1746Q CAD23_HUMAN VAR_012182 D2045N CAD23_HUMAN VAR_012183 D2202N CAD23_HUMAN VAR_012187 I2950N CAD23_HUMAN VAR_012188 R2956C CAD23_HUMAN VAR_012189 P3059T CADH3_HUMAN VAR_015422 R503H CAH2_HUMAN VAR_001381 Q91P CAH2_HUMAN VAR_001382 H106Y CAH2_HUMAN VAR_021009 H93Y CAH2_HUMAN VAR_021010 G143R CAN3_HUMAN VAR_001363 L182Q CAN3_HUMAN VAR_001365 G234E CAN3_HUMAN VAR_001366 V354G CAN3_HUMAN VAR_001367 R490W CAN3_HUMAN VAR_001368 R572Q CAN3_HUMAN VAR_001369 S744G CAN3_HUMAN VAR_001370 R769Q CAN3_HUMAN VAR_009548 V4I CAN3_HUMAN VAR_009549 P26L CAN3_HUMAN VAR_009550 D77N CAN3_HUMAN VAR_009551 S86F CAN3_HUMAN VAR_009554 R118G CAN3_HUMAN VAR_009555 C137R CAN3_HUMAN VAR_009556 I162L CAN3_HUMAN VAR_009557 P183L CAN3_HUMAN VAR_009558 T184M CAN3_HUMAN VAR_009559 L189P CAN3_HUMAN VAR_009560 G214S CAN3_HUMAN VAR_009561 S215P CAN3_HUMAN VAR_009563 E217K CAN3_HUMAN VAR_009564 G222R CAN3_HUMAN VAR_009565 E226K CAN3_HUMAN VAR_009566 T232I CAN3_HUMAN VAR_009569 P319L CAN3_HUMAN VAR_009570 H334Q CAN3_HUMAN VAR_009571 Y336N CAN3_HUMAN VAR_009572 W360C CAN3_HUMAN VAR_009573 R437C CAN3_HUMAN VAR_009574 R440W CAN3_HUMAN VAR_009575 G441D CAN3_HUMAN VAR_009576 G445R CAN3_HUMAN VAR_009577 R448C CAN3_HUMAN VAR_009578 R448G CAN3_HUMAN VAR_009579 R448H CAN3_HUMAN VAR_009580 S479G CAN3_HUMAN VAR_009581 Q486E CAN3_HUMAN VAR_009582 R489Q CAN3_HUMAN VAR_009583 R489W CAN3_HUMAN VAR_009584 R490Q CAN3_HUMAN VAR_009585 R493W CAN3_HUMAN VAR_009586 G496R CAN3_HUMAN VAR_009587 I502T CAN3_HUMAN VAR_009588 R541Q CAN3_HUMAN VAR_009589 G567W CAN3_HUMAN VAR_009590 R572W CAN3_HUMAN VAR_009591 S606L CAN3_HUMAN VAR_009592 Q638P CAN3_HUMAN VAR_009593 R698P CAN3_HUMAN VAR_009594 A702V CAN3_HUMAN VAR_009595 D705G CAN3_HUMAN VAR_009596 D705H CAN3_HUMAN VAR_009597 F731S CAN3_HUMAN VAR_009598 R748Q CAN3_HUMAN VAR_009599 H774D CAN3_HUMAN VAR_009600 A798E CAR15_HUMAN VAR_012665 A140T CAR15_HUMAN VAR_012666 W157R CAR15_HUMAN VAR_012668 R235C CAR15_HUMAN VAR_012669 L248R CAR15_HUMAN VAR_012672 D291N CAR15_HUMAN VAR_012673 T294S CAR15_HUMAN VAR_012674 A301V CAR15_HUMAN VAR_012675 R311W CAR15_HUMAN VAR_012676 R334Q CAR15_HUMAN VAR_012677 R334W CAR15_HUMAN VAR_012678 L348V CAR15_HUMAN VAR_012680 R373C CAR15_HUMAN VAR_012681 N414S CAR15_HUMAN VAR_012682 S431L CAR15_HUMAN VAR_012684 E441K CAR15_HUMAN VAR_012685 L469F CAR15_HUMAN VAR_012686 A612T CAR15_HUMAN VAR_012687 A612V CAR15_HUMAN VAR_012691 R713C CAR15_HUMAN VAR_012693 A755V CAR15_HUMAN VAR_012694 A758V CAR15_HUMAN VAR_012695 E778K CAR15_HUMAN VAR_012696 V793M CAR15_HUMAN VAR_012697 E843K CAR15_HUMAN VAR_012698 N853S CAR15_HUMAN VAR_012699 M863V CAR15_HUMAN VAR_012700 A885T CAR15_HUMAN VAR_012703 G924D CASP8_HUMAN VAR_014204 R248W CASPA_HUMAN VAR_014071 L285F CASQ2_HUMAN VAR_016075 D307H CASR_HUMAN VAR_003585 P39A CASR_HUMAN VAR_003586 R62M CASR_HUMAN VAR_003587 R66C CASR_HUMAN VAR_003588 A116T CASR_HUMAN VAR_003590 T138M CASR_HUMAN VAR_003591 G143E CASR_HUMAN VAR_003592 L174R CASR_HUMAN VAR_003593 R185Q CASR_HUMAN VAR_003594 R227L CASR_HUMAN VAR_003595 R227Q CASR_HUMAN VAR_003596 E297K CASR_HUMAN VAR_003597 C582Y CASR_HUMAN VAR_003598 Q681H CASR_HUMAN VAR_003599 R795W CASR_HUMAN VAR_003600 F806S CASR_HUMAN VAR_012649 G557E CASR_HUMAN VAR_015414 L616V CATC_HUMAN VAR_009541 V249F CATC_HUMAN VAR_009542 Q252L CATC_HUMAN VAR_009543 R272P CATC_HUMAN VAR_009544 G301S CATC_HUMAN VAR_009545 R339C CATC_HUMAN VAR_009546 Y347C CATC_HUMAN VAR_016933 W39S CATC_HUMAN VAR_016934 H127P CATC_HUMAN VAR_016935 Q286R CATC_HUMAN VAR_016936 W429C CATC_HUMAN VAR_016944 Y340C CATC_HUMAN VAR_019036 V129E CATC_HUMAN VAR_019037 G139R CATC_HUMAN VAR_019038 D236Y CATC_HUMAN VAR_019039 R272H CATC_HUMAN VAR_019040 C291Y CATC_HUMAN VAR_019041 G300D CATC_HUMAN VAR_019042 G300S CATC_HUMAN VAR_019043 G301V CATC_HUMAN VAR_019044 Y304N CATC_HUMAN VAR_019045 Q312R CATC_HUMAN VAR_019046 E319G CATC_HUMAN VAR_019047 Y412C CATC_HUMAN VAR_019048 E447G CATK_HUMAN VAR_006725 G146R CATK_HUMAN VAR_006726 L309P CATK_HUMAN VAR_015738 G79E CATK_HUMAN VAR_015739 A277V CAV3_HUMAN VAR_001403 P105L CAV3_HUMAN VAR_010742 G56S CAV3_HUMAN VAR_010743 C72W CAV3_HUMAN VAR_011512 R27Q CAV3_HUMAN VAR_011513 A46T CAV3_HUMAN VAR_011514 A46V CAV3_HUMAN VAR_015374 D28E CAV3_HUMAN VAR_016207 L87P CAV3_HUMAN VAR_016208 A93T CAV3_HUMAN VAR_021016 N33K CAV3_HUMAN VAR_021017 V44E CAV3_HUMAN VAR_021018 T64P CBG_HUMAN VAR_007111 L115H CBG_HUMAN VAR_016223 D389N CBP_HUMAN VAR_015578 R1378P CBS_HUMAN VAR_002171 P77R CBS_HUMAN VAR_002172 P87S CBS_HUMAN VAR_002173 K101N CBS_HUMAN VAR_002174 A113V CBS_HUMAN VAR_002175 R124Q CBS_HUMAN VAR_002176 E130D CBS_HUMAN VAR_002177 E143K CBS_HUMAN VAR_002178 P144L CBS_HUMAN VAR_002179 C164Y CBS_HUMAN VAR_002180 V167M CBS_HUMAN VAR_002181 R223H CBS_HUMAN VAR_002182 E238K CBS_HUMAN VAR_002183 T256M CBS_HUMAN VAR_002184 I277T CBS_HUMAN VAR_002185 P289L CBS_HUMAN VAR_002186 G306S CBS_HUMAN VAR_002187 A330V CBS_HUMAN VAR_002188 R335C CBS_HUMAN VAR_002189 R368H CBS_HUMAN VAR_002190 V370M CBS_HUMAN VAR_002191 K383E CBS_HUMAN VAR_002192 D443N CBS_HUMAN VAR_002193 V453E CBS_HUMAN VAR_002194 L538S CBS_HUMAN VAR_008049 P48L CBS_HUMAN VAR_008050 R57W CBS_HUMAN VAR_008051 G84R CBS_HUMAN VAR_008052 K101Q CBS_HUMAN VAR_008053 G115R CBS_HUMAN VAR_008054 R120C CBS_HUMAN VAR_008055 R120H CBS_HUMAN VAR_008056 R120L CBS_HUMAN VAR_008057 R124W CBS_HUMAN VAR_008058 M125V CBS_HUMAN VAR_008059 E127D CBS_HUMAN VAR_008060 G138R CBS_HUMAN VAR_008061 G147R CBS_HUMAN VAR_008062 G150R CBS_HUMAN VAR_008064 I151M CBS_HUMAN VAR_008065 A154T CBS_HUMAN VAR_008066 E175K CBS_HUMAN VAR_008067 V179A CBS_HUMAN VAR_008068 T190M CBS_HUMAN VAR_008069 D197V CBS_HUMAN VAR_008070 A225T CBS_HUMAN VAR_008071 D233N CBS_HUMAN VAR_008072 T261M CBS_HUMAN VAR_008073 R265G CBS_HUMAN VAR_008074 R265K CBS_HUMAN VAR_008076 E301K CBS_HUMAN VAR_008077 G304R CBS_HUMAN VAR_008078 V319A CBS_HUMAN VAR_008079 A330E CBS_HUMAN VAR_008080 R335H CBS_HUMAN VAR_008081 S351N CBS_HUMAN VAR_008082 T352M CBS_HUMAN VAR_008083 V353M CBS_HUMAN VAR_008084 R368C CBS_HUMAN VAR_008085 C369Y CBS_HUMAN VAR_008086 K383N CBS_HUMAN VAR_008087 M390I CBS_HUMAN VAR_008088 T433N CBS_HUMAN VAR_008089 I434T CBS_HUMAN VAR_008090 R438Q CBS_HUMAN VAR_008091 S465L CBS_HUMAN VAR_008092 R490C CBS_HUMAN VAR_008093 V533D CBS_HUMAN VAR_021790 H64R CBS_HUMAN VAR_021791 L100P CBS_HUMAN VAR_021792 C108R CBS_HUMAN VAR_021793 I142M CBS_HUMAN VAR_021794 N227K CBS_HUMAN VAR_021795 T261R CBS_HUMAN VAR_021796 C274Y CBS_HUMAN VAR_021797 L337P CBS_HUMAN VAR_021798 G346S CBS_HUMAN VAR_021799 S348N CBS_HUMAN VAR_021800 A354P CBS_HUMAN VAR_021801 R378Q CBS_HUMAN VAR_021802 P421L CBS_HUMAN VAR_021803 L455P CCM2_HUMAN VAR_023577 L198R CD2A1_HUMAN VAR_015818 A102E CD36_HUMAN VAR_017913 P89S CD36_HUMAN VAR_017917 F253L CD36_HUMAN VAR_017919 I412L CD8A_HUMAN VAR_021020 G111S CDAN1_HUMAN VAR_017218 N598S CDAN1_HUMAN VAR_017219 P671L CDAN1_HUMAN VAR_017220 E697K CDAN1_HUMAN VAR_017221 R713W CDAN1_HUMAN VAR_017222 F867I CDAN1_HUMAN VAR_017223 V868M CDAN1_HUMAN VAR_017224 R1041W CDAN1_HUMAN VAR_017225 D1042V CDAN1_HUMAN VAR_017226 P1129L CDKL5_HUMAN VAR_023560 C152F CDKL5_HUMAN VAR_023561 R175S CFAH_HUMAN VAR_019407 L1189R CFAH_HUMAN VAR_019408 S1191L CFTR_HUMAN VAR_000101 S13F CFTR_HUMAN VAR_000103 R31L CFTR_HUMAN VAR_000104 S42F CFTR_HUMAN VAR_000105 D44G CFTR_HUMAN VAR_000107 S50Y CFTR_HUMAN VAR_000108 W57G CFTR_HUMAN VAR_000109 P67L CFTR_HUMAN VAR_000110 R74W CFTR_HUMAN VAR_000112 G85E CFTR_HUMAN VAR_000113 F87L CFTR_HUMAN VAR_000114 G91R CFTR_HUMAN VAR_000115 E92K CFTR_HUMAN VAR_000116 Q98R CFTR_HUMAN VAR_000117 I105S CFTR_HUMAN VAR_000118 Y109C CFTR_HUMAN VAR_000119 D110H CFTR_HUMAN VAR_000120 P111L CFTR_HUMAN VAR_000121 R117C CFTR_HUMAN VAR_000122 R117H CFTR_HUMAN VAR_000123 R117L CFTR_HUMAN VAR_000124 R117P CFTR_HUMAN VAR_000125 A120T CFTR_HUMAN VAR_000126 H139R CFTR_HUMAN VAR_000127 A141D CFTR_HUMAN VAR_000128 I148T CFTR_HUMAN VAR_000129 G149R CFTR_HUMAN VAR_000130 G178R CFTR_HUMAN VAR_000132 E193K CFTR_HUMAN VAR_000133 H199Q CFTR_HUMAN VAR_000134 H199Y CFTR_HUMAN VAR_000135 P205S CFTR_HUMAN VAR_000136 L206W CFTR_HUMAN VAR_000137 C225R CFTR_HUMAN VAR_000138 M244K CFTR_HUMAN VAR_000139 R258G CFTR_HUMAN VAR_000140 N287Y CFTR_HUMAN VAR_000141 R297Q CFTR_HUMAN VAR_000142 Y301C CFTR_HUMAN VAR_000143 S307N CFTR_HUMAN VAR_000144 F311L CFTR_HUMAN VAR_000146 G314E CFTR_HUMAN VAR_000147 G314R CFTR_HUMAN VAR_000148 R334W CFTR_HUMAN VAR_000150 I336K CFTR_HUMAN VAR_000151 T338I CFTR_HUMAN VAR_000152 L346P CFTR_HUMAN VAR_000153 R347H CFTR_HUMAN VAR_000154 R347L CFTR_HUMAN VAR_000155 R347P CFTR_HUMAN VAR_000156 R352Q CFTR_HUMAN VAR_000157 Q359K CFTR_HUMAN VAR_000160 A455E CFTR_HUMAN VAR_000161 V456F CFTR_HUMAN VAR_000162 G458V CFTR_HUMAN VAR_000165 G480C CFTR_HUMAN VAR_000166 S492F CFTR_HUMAN VAR_000167 E504Q CFTR_HUMAN VAR_000173 D513G CFTR_HUMAN VAR_000174 V520F CFTR_HUMAN VAR_000175 G544V CFTR_HUMAN VAR_000176 S549N CFTR_HUMAN VAR_000177 S549I CFTR_HUMAN VAR_000178 S549R CFTR_HUMAN VAR_000179 G551D CFTR_HUMAN VAR_000180 G551S CFTR_HUMAN VAR_000181 R553Q CFTR_HUMAN VAR_000182 L558S CFTR_HUMAN VAR_000183 A559T CFTR_HUMAN VAR_000184 R560K CFTR_HUMAN VAR_000185 R560S CFTR_HUMAN VAR_000186 R560T CFTR_HUMAN VAR_000188 V562L CFTR_HUMAN VAR_000189 Y563N CFTR_HUMAN VAR_000190 Y569C CFTR_HUMAN VAR_000191 Y569D CFTR_HUMAN VAR_000192 Y569H CFTR_HUMAN VAR_000193 L571S CFTR_HUMAN VAR_000194 D572N CFTR_HUMAN VAR_000195 P574H CFTR_HUMAN VAR_000197 D579G CFTR_HUMAN VAR_000198 I601F CFTR_HUMAN VAR_000199 L610S CFTR_HUMAN VAR_000200 A613T CFTR_HUMAN VAR_000201 D614G CFTR_HUMAN VAR_000202 I618T CFTR_HUMAN VAR_000203 L619S CFTR_HUMAN VAR_000204 H620P CFTR_HUMAN VAR_000205 H620Q CFTR_HUMAN VAR_000207 G628R CFTR_HUMAN VAR_000208 L633P CFTR_HUMAN VAR_000209 D648V CFTR_HUMAN VAR_000210 D651N CFTR_HUMAN VAR_000211 T665S CFTR_HUMAN VAR_000214 V754M CFTR_HUMAN VAR_000215 R766M CFTR_HUMAN VAR_000216 R792G CFTR_HUMAN VAR_000217 A800G CFTR_HUMAN VAR_000219 E822K CFTR_HUMAN VAR_000221 C866Y CFTR_HUMAN VAR_000223 Y913C CFTR_HUMAN VAR_000224 Y917C CFTR_HUMAN VAR_000225 H949Y CFTR_HUMAN VAR_000226 M952I CFTR_HUMAN VAR_000228 I1005R CFTR_HUMAN VAR_000229 A1006E CFTR_HUMAN VAR_000230 P1013L CFTR_HUMAN VAR_000231 M1028I CFTR_HUMAN VAR_000232 F1052V CFTR_HUMAN VAR_000233 G1061R CFTR_HUMAN VAR_000234 L1065P CFTR_HUMAN VAR_000235 L1065R CFTR_HUMAN VAR_000236 R1066C CFTR_HUMAN VAR_000237 R1066H CFTR_HUMAN VAR_000238 R1066L CFTR_HUMAN VAR_000239 A1067T CFTR_HUMAN VAR_000241 R1070Q CFTR_HUMAN VAR_000242 R1070P CFTR_HUMAN VAR_000243 Q1071P CFTR_HUMAN VAR_000244 P1072L CFTR_HUMAN VAR_000245 L1077P CFTR_HUMAN VAR_000246 H1085R CFTR_HUMAN VAR_000247 W1098R CFTR_HUMAN VAR_000248 M1101K CFTR_HUMAN VAR_000249 M1137V CFTR_HUMAN VAR_000251 D1152H CFTR_HUMAN VAR_000254 I1234V CFTR_HUMAN VAR_000255 S1235R CFTR_HUMAN VAR_000256 G1244E CFTR_HUMAN VAR_000257 G1249E CFTR_HUMAN VAR_000258 S1251N CFTR_HUMAN VAR_000259 S1255P CFTR_HUMAN VAR_000260 D1270N CFTR_HUMAN VAR_000261 W1282R CFTR_HUMAN VAR_000262 R1283M CFTR_HUMAN VAR_000263 F1286S CFTR_HUMAN VAR_000264 Q1291H CFTR_HUMAN VAR_000265 Q1291R CFTR_HUMAN VAR_000266 N1303H CFTR_HUMAN VAR_000267 N1303K CFTR_HUMAN VAR_000268 G1349D CFTR_HUMAN VAR_000269 A1364V CFTR_HUMAN VAR_000270 V1397E CFTR_HUMAN VAR_011564 R1070W CFTR_HUMAN VAR_011565 M1101R CHD7_HUMAN VAR_021059 I266V CHD7_HUMAN VAR_021060 L495R CHM2B_HUMAN VAR_023383 D148Y CHST3_HUMAN VAR_021413 R304Q CHST6_HUMAN VAR_021417 L15P CHST6_HUMAN VAR_021418 L22R CHST6_HUMAN VAR_021419 P31S CHST6_HUMAN VAR_021420 H42Y CHST6_HUMAN VAR_021421 R50C CHST6_HUMAN VAR_021422 S51L CHST6_HUMAN VAR_021423 G52D CHST6_HUMAN VAR_021424 S53L CHST6_HUMAN VAR_021425 L59P CHST6_HUMAN VAR_021426 N61T CHST6_HUMAN VAR_021427 V66L CHST6_HUMAN VAR_021428 Y68H CHST6_HUMAN VAR_021429 M70L CHST6_HUMAN VAR_021430 P72S CHST6_HUMAN VAR_021431 V76M CHST6_HUMAN VAR_021432 R93H CHST6_HUMAN VAR_021433 R97P CHST6_HUMAN VAR_021434 S98W CHST6_HUMAN VAR_021435 C102G CHST6_HUMAN VAR_021436 C102Y CHST6_HUMAN VAR_021437 M104V CHST6_HUMAN VAR_021438 F107S CHST6_HUMAN VAR_021439 Y110C CHST6_HUMAN VAR_021440 F121L CHST6_HUMAN VAR_021441 Q122P CHST6_HUMAN VAR_021442 R127C CHST6_HUMAN VAR_021443 A128V CHST6_HUMAN VAR_021444 S131P CHST6_HUMAN VAR_021445 L152P CHST6_HUMAN VAR_021446 R162G CHST6_HUMAN VAR_021447 R166P CHST6_HUMAN VAR_021448 K174R CHST6_HUMAN VAR_021449 R177H CHST6_HUMAN VAR_021450 V198E CHST6_HUMAN VAR_021451 L200R CHST6_HUMAN VAR_021452 R202S CHST6_HUMAN VAR_021453 D203E CHST6_HUMAN VAR_021454 P204Q CHST6_HUMAN VAR_021455 R205L CHST6_HUMAN VAR_021456 R205Q CHST6_HUMAN VAR_021457 A206T CHST6_HUMAN VAR_021458 A206V CHST6_HUMAN VAR_021459 S210F CHST6_HUMAN VAR_021460 R211Q CHST6_HUMAN VAR_021461 R211W CHST6_HUMAN VAR_021462 A217T CHST6_HUMAN VAR_021463 D221E CHST6_HUMAN VAR_021464 D221Y CHST6_HUMAN VAR_021465 H249P CHST6_HUMAN VAR_021466 Y268C CHST6_HUMAN VAR_021467 E274K CHST6_HUMAN VAR_021468 L276P CHST6_HUMAN VAR_021469 Y358D CIAS1_HUMAN VAR_013227 V198M CIAS1_HUMAN VAR_013228 A352V CIAS1_HUMAN VAR_013229 A439V CIAS1_HUMAN VAR_013230 E627G CIAS1_HUMAN VAR_014104 R260W CIAS1_HUMAN VAR_014105 D303N CIAS1_HUMAN VAR_014106 F309S CIAS1_HUMAN VAR_014107 G569R CIAS1_HUMAN VAR_014108 F573S CIAS1_HUMAN VAR_014124 L305P CIAS1_HUMAN VAR_014366 T348M CIAS1_HUMAN VAR_014367 H358R CIAS1_HUMAN VAR_014368 T436N CIAS1_HUMAN VAR_014369 A439T CIAS1_HUMAN VAR_014370 M662T CIAS1_HUMAN VAR_023551 Y859C CIR1A_HUMAN VAR_017445 R565W CLAT_HUMAN VAR_011666 L210P CLAT_HUMAN VAR_011667 P211A CLAT_HUMAN VAR_011668 I305T CLAT_HUMAN VAR_011669 R420C CLAT_HUMAN VAR_011670 E441K CLAT_HUMAN VAR_011671 R482G CLAT_HUMAN VAR_011672 S498L CLAT_HUMAN VAR_011673 V506L CLAT_HUMAN VAR_011674 R560H CLCKB_HUMAN VAR_001624 P124L CLCKB_HUMAN VAR_001625 A204T CLCKB_HUMAN VAR_001626 A349D CLCKB_HUMAN VAR_001627 Y432H CLCKB_HUMAN VAR_001628 R438C CLCN1_HUMAN VAR_001582 R105C CLCN1_HUMAN VAR_001584 D136G CLCN1_HUMAN VAR_001585 Y150C CLCN1_HUMAN VAR_001586 F161V CLCN1_HUMAN VAR_001587 V165G CLCN1_HUMAN VAR_001588 F167L CLCN1_HUMAN VAR_001589 G200R CLCN1_HUMAN VAR_001590 G230E CLCN1_HUMAN VAR_001591 V236L CLCN1_HUMAN VAR_001592 Y261C CLCN1_HUMAN VAR_001593 G285E CLCN1_HUMAN VAR_001594 V286A CLCN1_HUMAN VAR_001595 I290M CLCN1_HUMAN VAR_001596 E291K CLCN1_HUMAN VAR_001598 F307S CLCN1_HUMAN VAR_001599 A313T CLCN1_HUMAN VAR_001600 R317Q CLCN1_HUMAN VAR_001601 V327I CLCN1_HUMAN VAR_001602 I329T CLCN1_HUMAN VAR_001603 R338Q CLCN1_HUMAN VAR_001604 F413C CLCN1_HUMAN VAR_001605 A415V CLCN1_HUMAN VAR_001607 P480L CLCN1_HUMAN VAR_001608 G482R CLCN1_HUMAN VAR_001609 M485V CLCN1_HUMAN VAR_001610 R496S CLCN1_HUMAN VAR_001611 Q552R CLCN1_HUMAN VAR_001612 I556N CLCN1_HUMAN VAR_001613 V563I CLCN1_HUMAN VAR_001614 F708L CLCN2_HUMAN VAR_015989 G715E CLCN5_HUMAN VAR_001616 G57V CLCN5_HUMAN VAR_001617 L200R CLCN5_HUMAN VAR_001618 S244L CLCN5_HUMAN VAR_001619 R280P CLCN5_HUMAN VAR_001620 G506E CLCN5_HUMAN VAR_001621 G512R CLCN5_HUMAN VAR_001622 S520P CLCN5_HUMAN VAR_001623 E527D CLCN7_HUMAN VAR_017838 R762Q CLCN7_HUMAN VAR_017839 L766P CLCN7_HUMAN VAR_017840 R767W CLCN7_HUMAN VAR_020997 G215R CLCN7_HUMAN VAR_020998 G240R CLCN7_HUMAN VAR_020999 P249R CLCN7_HUMAN VAR_021000 R286Q CLCN7_HUMAN VAR_021001 M332V CLCN7_HUMAN VAR_021003 L490F CLCN7_HUMAN VAR_021004 R526W CLCN7_HUMAN VAR_021005 L614P CLCN7_HUMAN VAR_021006 G677V CLCN7_HUMAN VAR_021007 S744F CLCN7_HUMAN VAR_021008 R767Q CLD14_HUMAN VAR_010738 V85D CLD16_HUMAN VAR_008172 G239R CLD16_HUMAN VAR_008173 M71R CLD16_HUMAN VAR_008174 L167P CLD16_HUMAN VAR_008175 G191R CLD16_HUMAN VAR_008176 G198D CLD16_HUMAN VAR_008177 F232C CLD16_HUMAN VAR_008178 G233D CLD16_HUMAN VAR_008179 S235F CLD16_HUMAN VAR_017228 H141D CLD16_HUMAN VAR_017229 L145P CLD16_HUMAN VAR_017230 R149L CLD16_HUMAN VAR_017231 L151F CLD16_HUMAN VAR_017232 L151P CLD16_HUMAN VAR_017233 L151W CLD16_HUMAN VAR_017234 G198A CLD16_HUMAN VAR_017235 A209T CLD16_HUMAN VAR_017236 R216T CLD16_HUMAN VAR_017237 S235P CLN3_HUMAN VAR_005131 L101P CLN3_HUMAN VAR_005132 L170P CLN3_HUMAN VAR_005133 E295K CLN3_HUMAN VAR_005134 V330F CLN3_HUMAN VAR_005135 R334C CLN3_HUMAN VAR_005136 R334H CLN5_HUMAN VAR_005137 D279N CLN6_HUMAN VAR_015683 G123D CLN6_HUMAN VAR_015686 W300R CLN6_HUMAN VAR_021549 R62H CLN6_HUMAN VAR_021550 E72Q CLN6_HUMAN VAR_021551 Y221S CLN6_HUMAN VAR_021552 M241T CLN6_HUMAN VAR_021554 P299L CLN8_HUMAN VAR_013174 R24G CMC2_HUMAN VAR_016601 E601K CNGA1_HUMAN VAR_009297 S316F CNGA3_HUMAN VAR_010903 P163L CNGA3_HUMAN VAR_010904 R283Q CNGA3_HUMAN VAR_010905 R283W CNGA3_HUMAN VAR_010906 T291R CNGA3_HUMAN VAR_010907 V529M CNGA3_HUMAN VAR_010908 F547L CNGA3_HUMAN VAR_010909 G557R CNGA3_HUMAN VAR_010910 R410W CNGB3_HUMAN VAR_018111 S435F CO1A1_HUMAN VAR_001645 G224C CO1A1_HUMAN VAR_001646 G263R CO1A1_HUMAN VAR_001648 G272C CO1A1_HUMAN VAR_001649 G275D CO1A1_HUMAN VAR_001650 G332R CO1A1_HUMAN VAR_001651 G350R CO1A1_HUMAN VAR_001652 G353C CO1A1_HUMAN VAR_001653 G356C CO1A1_HUMAN VAR_001654 G383C CO1A1_HUMAN VAR_001656 G389R CO1A1_HUMAN VAR_001657 G398A CO1A1_HUMAN VAR_001658 G398D CO1A1_HUMAN VAR_001659 G401C CO1A1_HUMAN VAR_001661 G422C CO1A1_HUMAN VAR_001662 G425S CO1A1_HUMAN VAR_001663 G434V CO1A1_HUMAN VAR_001664 G476R CO1A1_HUMAN VAR_001665 G527C CO1A1_HUMAN VAR_001667 G533D CO1A1_HUMAN VAR_001668 G560S CO1A1_HUMAN VAR_001669 G560C CO1A1_HUMAN VAR_001670 G560R CO1A1_HUMAN VAR_001672 G569R CO1A1_HUMAN VAR_001676 G656S CO1A1_HUMAN VAR_001677 G701C CO1A1_HUMAN VAR_001678 G704C CO1A1_HUMAN VAR_001679 G719D CO1A1_HUMAN VAR_001680 G719S CO1A1_HUMAN VAR_001681 G728R CO1A1_HUMAN VAR_001682 G737D CO1A1_HUMAN VAR_001683 G743S CO1A1_HUMAN VAR_001684 G743V CO1A1_HUMAN VAR_001685 G764V CO1A1_HUMAN VAR_001686 G767S CO1A1_HUMAN VAR_001687 G776S CO1A1_HUMAN VAR_001688 G809S CO1A1_HUMAN VAR_001689 G815V CO1A1_HUMAN VAR_001690 G821S CO1A1_HUMAN VAR_001692 G839S CO1A1_HUMAN VAR_001693 G842R CO1A1_HUMAN VAR_001694 G845R CO1A1_HUMAN VAR_001695 G851D CO1A1_HUMAN VAR_001696 G869C CO1A1_HUMAN VAR_001698 G896C CO1A1_HUMAN VAR_001699 G926C CO1A1_HUMAN VAR_001700 G980V CO1A1_HUMAN VAR_001701 G1010S CO1A1_HUMAN VAR_001702 G1022S CO1A1_HUMAN VAR_001703 G1022V CO1A1_HUMAN VAR_001704 G1025R CO1A1_HUMAN VAR_001706 G1043S CO1A1_HUMAN VAR_001708 G1049S CO1A1_HUMAN VAR_001709 G1058S CO1A1_HUMAN VAR_001710 G1061D CO1A1_HUMAN VAR_001711 G1061S CO1A1_HUMAN VAR_001713 G1076S CO1A1_HUMAN VAR_001715 G1082C CO1A1_HUMAN VAR_001716 G1088A CO1A1_HUMAN VAR_001717 G1091S CO1A1_HUMAN VAR_001718 G1100S CO1A1_HUMAN VAR_001719 G1106A CO1A1_HUMAN VAR_001720 G1124C CO1A1_HUMAN VAR_001721 G1142S CO1A1_HUMAN VAR_001722 G1151S CO1A1_HUMAN VAR_001723 G1151V CO1A1_HUMAN VAR_001724 G1154R CO1A1_HUMAN VAR_001725 G1166C CO1A1_HUMAN VAR_001726 G1172D CO1A1_HUMAN VAR_001727 G1181S CO1A1_HUMAN VAR_001728 G1184V CO1A1_HUMAN VAR_001730 G1187V CO1A1_HUMAN VAR_001731 G1195C CO1A1_HUMAN VAR_001732 D1277H CO1A1_HUMAN VAR_001733 W1312C CO1A1_HUMAN VAR_001735 L1388R CO1A1_HUMAN VAR_001737 L1464P CO1A1_HUMAN VAR_008118 G866S CO1A1_HUMAN VAR_013579 R312C CO1A2_HUMAN VAR_001852 G211D CO1A2_HUMAN VAR_001855 G328S CO1A2_HUMAN VAR_001856 G334C CO1A2_HUMAN VAR_001857 G337C CO1A2_HUMAN VAR_001858 G337S CO1A2_HUMAN VAR_001860 G349C CO1A2_HUMAN VAR_001861 G409V CO1A2_HUMAN VAR_001862 G433E CO1A2_HUMAN VAR_001863 G460S CO1A2_HUMAN VAR_001864 G511D CO1A2_HUMAN VAR_001865 G517R CO1A2_HUMAN VAR_001866 G547R CO1A2_HUMAN VAR_001868 G562C CO1A2_HUMAN VAR_001869 G586R CO1A2_HUMAN VAR_001870 G592S CO1A2_HUMAN VAR_001871 G634V CO1A2_HUMAN VAR_001872 G637D CO1A2_HUMAN VAR_001873 G640S CO1A2_HUMAN VAR_001874 G670D CO1A2_HUMAN VAR_001875 G676V CO1A2_HUMAN VAR_001877 G715D CO1A2_HUMAN VAR_001878 G730C CO1A2_HUMAN VAR_001879 G736C CO1A2_HUMAN VAR_001881 G751S CO1A2_HUMAN VAR_001882 G754R CO1A2_HUMAN VAR_001883 G766V CO1A2_HUMAN VAR_001884 G778S CO1A2_HUMAN VAR_001885 G784R CO1A2_HUMAN VAR_001886 G787C CO1A2_HUMAN VAR_001887 G790D CO1A2_HUMAN VAR_001888 G796S CO1A2_HUMAN VAR_001890 G835S CO1A2_HUMAN VAR_001891 G877C CO1A2_HUMAN 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VAR_017640 G384V CO2A1_HUMAN VAR_017641 G702D CO2A1_HUMAN VAR_017642 G711R CO2A1_HUMAN VAR_017643 G726R CO2A1_HUMAN VAR_017644 G825E CO2A1_HUMAN VAR_017645 R835C CO2A1_HUMAN VAR_017646 G879D CO2A1_HUMAN VAR_017647 G912S CO2A1_HUMAN VAR_017649 G996V CO2A1_HUMAN VAR_017650 G1050R CO2A1_HUMAN VAR_017651 G1104R CO3A1_HUMAN VAR_001768 G183C CO3A1_HUMAN VAR_001769 G201R CO3A1_HUMAN VAR_001770 G228E CO3A1_HUMAN VAR_001772 G540R CO3A1_HUMAN VAR_001773 G567E CO3A1_HUMAN VAR_001774 G582S CO3A1_HUMAN VAR_001777 G666D CO3A1_HUMAN VAR_001779 G726R CO3A1_HUMAN VAR_001780 G756E CO3A1_HUMAN VAR_001781 G762C CO3A1_HUMAN VAR_001783 G804S CO3A1_HUMAN VAR_001784 G828R CO3A1_HUMAN VAR_001785 G909D CO3A1_HUMAN VAR_001786 G936R CO3A1_HUMAN VAR_001787 G936S CO3A1_HUMAN VAR_001788 G939D CO3A1_HUMAN VAR_001789 G957S CO3A1_HUMAN VAR_001790 G960V CO3A1_HUMAN VAR_001791 G996E CO3A1_HUMAN VAR_001792 G1014E CO3A1_HUMAN VAR_001793 G1050D CO3A1_HUMAN VAR_001794 G1071V CO3A1_HUMAN VAR_001795 G1077V CO3A1_HUMAN 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VAR_011153 G1098V CO3A1_HUMAN VAR_011154 G1161V CO3A1_HUMAN VAR_011155 G1164E CO3A1_HUMAN VAR_011156 G1164R CO3A1_HUMAN VAR_011157 G1170V CO3A1_HUMAN VAR_011158 G1173R CO3A1_HUMAN VAR_011159 G1179R CO3_HUMAN VAR_001985 D549N CO3_HUMAN VAR_001986 R1320Q CO4A3_HUMAN VAR_011204 G297E CO4A3_HUMAN VAR_011206 G407R CO4A3_HUMAN VAR_011210 G640R CO4A3_HUMAN VAR_011211 G1167R CO4A3_HUMAN VAR_011212 G1207E CO4A3_HUMAN VAR_011213 R1215Q CO4A3_HUMAN VAR_011215 G1277S CO4A3_HUMAN VAR_011216 I1330T CO4A3_HUMAN VAR_011217 G1334E CO4A3_HUMAN VAR_011218 D1347E CO4A3_HUMAN VAR_011219 R1661C CO4A4_HUMAN VAR_001912 G897E CO4A4_HUMAN VAR_001913 G1201S CO4A4_HUMAN VAR_008153 G1030V CO4A4_HUMAN VAR_008155 P1572L CO4A5_HUMAN VAR_001914 G54D CO4A5_HUMAN VAR_001915 G129E CO4A5_HUMAN VAR_001916 G129V CO4A5_HUMAN VAR_001917 G174R CO4A5_HUMAN VAR_001918 G177R CO4A5_HUMAN VAR_001919 G216R CO4A5_HUMAN VAR_001920 G219S CO4A5_HUMAN VAR_001921 G289V CO4A5_HUMAN VAR_001922 G292V CO4A5_HUMAN VAR_001923 G325E CO4A5_HUMAN VAR_001924 G325R CO4A5_HUMAN VAR_001925 G365E CO4A5_HUMAN VAR_001927 G371E CO4A5_HUMAN VAR_001928 G374A CO4A5_HUMAN VAR_001929 G383D CO4A5_HUMAN VAR_001930 G400E CO4A5_HUMAN VAR_001931 G406V CO4A5_HUMAN VAR_001932 G409D CO4A5_HUMAN VAR_001936 G466E CO4A5_HUMAN VAR_001937 G494D CO4A5_HUMAN VAR_001939 G521C CO4A5_HUMAN VAR_001940 G521S CO4A5_HUMAN VAR_001941 G567A CO4A5_HUMAN VAR_001942 G609V CO4A5_HUMAN VAR_001943 G638V CO4A5_HUMAN VAR_001944 G638A CO4A5_HUMAN VAR_001945 G653R CO4A5_HUMAN VAR_001947 G684V CO4A5_HUMAN VAR_001948 G740E CO4A5_HUMAN VAR_001949 G772D CO4A5_HUMAN VAR_001950 G796R CO4A5_HUMAN VAR_001951 G852R CO4A5_HUMAN VAR_001952 G866E CO4A5_HUMAN VAR_001953 G869R CO4A5_HUMAN VAR_001954 G872R CO4A5_HUMAN VAR_001956 G1104V CO4A5_HUMAN VAR_001957 G1143D CO4A5_HUMAN VAR_001958 G1143S CO4A5_HUMAN VAR_001959 G1182R CO4A5_HUMAN VAR_001960 G1241C CO4A5_HUMAN VAR_001961 G1270S CO4A5_HUMAN VAR_001962 G1379V CO4A5_HUMAN VAR_001963 R1410C CO4A5_HUMAN VAR_001964 G1421W CO4A5_HUMAN VAR_001965 R1422C CO4A5_HUMAN VAR_001966 G1451S CO4A5_HUMAN VAR_001967 A1498D CO4A5_HUMAN VAR_001968 P1517T CO4A5_HUMAN VAR_001969 W1538S CO4A5_HUMAN VAR_001970 R1563Q CO4A5_HUMAN VAR_001971 C1564S CO4A5_HUMAN VAR_001972 G1596D CO4A5_HUMAN VAR_001973 L1649R CO4A5_HUMAN VAR_001974 R1677Q CO4A5_HUMAN VAR_007991 G114S CO4A5_HUMAN VAR_007992 G331V CO4A5_HUMAN VAR_007993 G472R CO4A5_HUMAN VAR_007994 G545R CO4A5_HUMAN VAR_007995 G545V CO4A5_HUMAN VAR_007996 G561R CO4A5_HUMAN VAR_007997 G579R CO4A5_HUMAN VAR_007998 G635D CO4A5_HUMAN VAR_007999 G638S CO4A5_HUMAN VAR_008000 G669A CO4A5_HUMAN VAR_008001 G687E CO4A5_HUMAN VAR_008002 G743D CO4A5_HUMAN VAR_008003 G808E CO4A5_HUMAN VAR_008005 G852E CO4A5_HUMAN VAR_008006 G878R CO4A5_HUMAN VAR_008008 G1107R CO4A5_HUMAN VAR_008009 G1161R CO4A5_HUMAN VAR_008010 G1211R CO4A5_HUMAN VAR_008011 G1220D CO4A5_HUMAN VAR_008012 G1333S CO4A5_HUMAN VAR_008013 G1427V CO4A5_HUMAN VAR_008014 G1442D CO4A5_HUMAN VAR_008015 G1486A CO4A5_HUMAN VAR_011220 G177C CO4A5_HUMAN VAR_011221 G192R CO4A5_HUMAN VAR_011222 G204V CO4A5_HUMAN VAR_011223 G230R CO4A5_HUMAN VAR_011224 G239E CO4A5_HUMAN VAR_011225 G264R CO4A5_HUMAN VAR_011226 G292R CO4A5_HUMAN VAR_011227 G295D CO4A5_HUMAN VAR_011228 G298S CO4A5_HUMAN VAR_011229 G319R CO4A5_HUMAN VAR_011230 G412V CO4A5_HUMAN VAR_011231 G415R CO4A5_HUMAN VAR_011232 G420E CO4A5_HUMAN VAR_011233 G420V CO4A5_HUMAN VAR_011234 G423E CO4A5_HUMAN VAR_011235 G491E CO4A5_HUMAN VAR_011236 G497C CO4A5_HUMAN VAR_011237 G524D CO4A5_HUMAN VAR_011238 G558R CO4A5_HUMAN VAR_011239 G573D CO4A5_HUMAN VAR_011240 G579E CO4A5_HUMAN VAR_011241 G603V CO4A5_HUMAN VAR_011242 G609R CO4A5_HUMAN VAR_011244 G621C CO4A5_HUMAN VAR_011245 G624D CO4A5_HUMAN VAR_011246 G629D CO4A5_HUMAN VAR_011247 G632D CO4A5_HUMAN VAR_011248 E633K CO4A5_HUMAN VAR_011249 G681D CO4A5_HUMAN VAR_011250 G722E CO4A5_HUMAN VAR_011252 P739S CO4A5_HUMAN VAR_011253 G802R CO4A5_HUMAN VAR_011255 G811V CO4A5_HUMAN VAR_011256 G822R CO4A5_HUMAN VAR_011258 M898V CO4A5_HUMAN VAR_011259 G902V CO4A5_HUMAN VAR_011260 G911E CO4A5_HUMAN VAR_011261 G941C CO4A5_HUMAN VAR_011262 G947D CO4A5_HUMAN VAR_011263 G953V CO4A5_HUMAN VAR_011264 G1006A CO4A5_HUMAN VAR_011265 G1006V CO4A5_HUMAN VAR_011266 G1015E CO4A5_HUMAN VAR_011267 G1015V CO4A5_HUMAN VAR_011268 G1030S CO4A5_HUMAN VAR_011269 G1036V CO4A5_HUMAN VAR_011270 G1039S CO4A5_HUMAN VAR_011271 G1045E CO4A5_HUMAN VAR_011272 G1066R CO4A5_HUMAN VAR_011273 G1066S CO4A5_HUMAN VAR_011274 G1086D CO4A5_HUMAN VAR_011275 G1158R CO4A5_HUMAN VAR_011276 G1167S CO4A5_HUMAN VAR_011277 G1170S CO4A5_HUMAN VAR_011278 G1196R CO4A5_HUMAN VAR_011279 G1205C CO4A5_HUMAN VAR_011280 G1211E CO4A5_HUMAN VAR_011281 G1229D CO4A5_HUMAN VAR_011282 G1244D CO4A5_HUMAN VAR_011283 G1252S CO4A5_HUMAN VAR_011284 G1261E CO4A5_HUMAN VAR_011285 G1357S CO4A5_HUMAN VAR_011287 S1488F CO4A5_HUMAN VAR_011288 R1511H CO4A5_HUMAN VAR_011289 C1567R CO4A5_HUMAN VAR_011290 R1677P CO4A5_HUMAN VAR_011291 C1678W CO5A1_HUMAN VAR_001808 C1639S CO5A1_HUMAN VAR_015412 G530S CO5A1_HUMAN VAR_015413 G1489D CO5A2_HUMAN VAR_013588 G960R CO6A2_HUMAN VAR_013589 G271S CO6A2_HUMAN VAR_013590 D621N CO6A3_HUMAN VAR_001910 G1679E CO7A1_HUMAN VAR_001809 K142R CO7A1_HUMAN VAR_001811 P1277L CO7A1_HUMAN VAR_001812 G1557R CO7A1_HUMAN VAR_001813 G1782R CO7A1_HUMAN VAR_001814 G1982W CO7A1_HUMAN VAR_001815 G2003R CO7A1_HUMAN VAR_001816 R2008G CO7A1_HUMAN VAR_001817 G2025A CO7A1_HUMAN VAR_001818 G2034R CO7A1_HUMAN VAR_001819 G2040S CO7A1_HUMAN VAR_001820 G2043R CO7A1_HUMAN VAR_001821 G2049E CO7A1_HUMAN VAR_001822 G2055E CO7A1_HUMAN VAR_001823 R2063W CO7A1_HUMAN VAR_001825 G2073D CO7A1_HUMAN VAR_001826 G2076D CO7A1_HUMAN VAR_001827 G2079E CO7A1_HUMAN VAR_001828 G2242R CO7A1_HUMAN VAR_001830 G2569R CO7A1_HUMAN VAR_001831 G2575R CO7A1_HUMAN VAR_001832 G2623C CO7A1_HUMAN VAR_001833 G2653R CO7A1_HUMAN VAR_001834 G2671V CO7A1_HUMAN VAR_001835 G2674R CO7A1_HUMAN VAR_001836 G2749R CO7A1_HUMAN VAR_001837 M2798K CO7A1_HUMAN VAR_011160 G1347R CO7A1_HUMAN VAR_011161 G1519D CO7A1_HUMAN VAR_011162 G1522E CO7A1_HUMAN VAR_011163 G1604R CO7A1_HUMAN VAR_011164 G1652R CO7A1_HUMAN VAR_011165 G1703E CO7A1_HUMAN VAR_011166 R1772W CO7A1_HUMAN VAR_011167 G1776R CO7A1_HUMAN VAR_011168 G1791E CO7A1_HUMAN VAR_011169 G1812R CO7A1_HUMAN VAR_011170 G2006A CO7A1_HUMAN VAR_011171 G2006D CO7A1_HUMAN VAR_011172 R2008C CO7A1_HUMAN VAR_011173 G2009R CO7A1_HUMAN VAR_011174 G2015E CO7A1_HUMAN VAR_011175 G2028A CO7A1_HUMAN VAR_011176 G2028R CO7A1_HUMAN VAR_011177 G2031S CO7A1_HUMAN VAR_011178 G2034W CO7A1_HUMAN VAR_011179 G2037E CO7A1_HUMAN VAR_011180 G2040D CO7A1_HUMAN VAR_011181 G2040V CO7A1_HUMAN VAR_011182 G2043W CO7A1_HUMAN VAR_011183 G2046V CO7A1_HUMAN VAR_011184 G2064R CO7A1_HUMAN VAR_011185 G2079R CO7A1_HUMAN VAR_011186 G2132D CO7A1_HUMAN VAR_011187 G2192S CO7A1_HUMAN VAR_011188 G2207R CO7A1_HUMAN VAR_011189 G2251E CO7A1_HUMAN VAR_011190 G2263V CO7A1_HUMAN VAR_011191 G2287R CO7A1_HUMAN VAR_011192 G2316R CO7A1_HUMAN VAR_011193 G2348R CO7A1_HUMAN VAR_011194 G2366S CO7A1_HUMAN VAR_011195 G2369S CO7A1_HUMAN VAR_011196 G2674D CO7A1_HUMAN VAR_011197 G2713D CO7A1_HUMAN VAR_011198 G2713R CO7A1_HUMAN VAR_011199 G2740A CO7A1_HUMAN VAR_011200 G2775S CO7A1_HUMAN VAR_011201 R2791W CO7_HUMAN VAR_012643 R220Q CO7_HUMAN VAR_012644 G379R CO7_HUMAN VAR_012645 R521S CO7_HUMAN VAR_012646 E682Q CO7_HUMAN VAR_012647 R687H CO8A2_HUMAN VAR_017894 R155Q CO8A2_HUMAN VAR_017895 R304Q CO8A2_HUMAN VAR_017896 G357R CO8A2_HUMAN VAR_017897 R434H CO8A2_HUMAN VAR_017898 Q455K CO8A2_HUMAN VAR_017899 P575L CO9A2_HUMAN VAR_012658 Q326W CO9_HUMAN VAR_012648 C119G COAA1_HUMAN VAR_001838 G18E COAA1_HUMAN VAR_001839 G18R COAA1_HUMAN VAR_001841 C591R COAA1_HUMAN VAR_001842 G595E COAA1_HUMAN VAR_001843 Y597H COAA1_HUMAN VAR_001844 Y598D COAA1_HUMAN VAR_001845 S600P COAA1_HUMAN VAR_001846 L614P COAA1_HUMAN VAR_001847 N617K COAA1_HUMAN VAR_001848 G618V COAA1_HUMAN VAR_001849 L644R COAA1_HUMAN VAR_001850 D648G COAA1_HUMAN VAR_008039 Y597C COAA1_HUMAN VAR_023188 Y582D COAA1_HUMAN VAR_023189 G595R COAA1_HUMAN VAR_023191 W651R COAA1_HUMAN VAR_023192 Q653P COAA1_HUMAN VAR_023193 S671P COBA1_HUMAN VAR_013583 G625V COBA1_HUMAN VAR_013584 G676R COBA1_HUMAN VAR_013587 G1516V COCH_HUMAN VAR_008532 P51S COCH_HUMAN VAR_008533 V66G COCH_HUMAN VAR_008534 G88E COCH_HUMAN VAR_008535 I109N COCH_HUMAN VAR_008536 W117R COCH_HUMAN VAR_017175 A119T COHA1_HUMAN VAR_017596 S265C COHA1_HUMAN VAR_017598 G627V COHA1_HUMAN VAR_017599 G633D COHA1_HUMAN VAR_017601 R1303Q COLQ_HUMAN VAR_010133 P59Q COLQ_HUMAN VAR_010134 D342E COLQ_HUMAN VAR_010135 R411Q COLQ_HUMAN VAR_010136 Y431S COLQ_HUMAN VAR_010137 C445Y COMP_HUMAN VAR_007614 D290N COMP_HUMAN VAR_007615 G299R COMP_HUMAN VAR_007616 C328R COMP_HUMAN VAR_007617 D342Y COMP_HUMAN VAR_007618 D349V COMP_HUMAN VAR_007619 D361V COMP_HUMAN VAR_007620 D361Y COMP_HUMAN VAR_007622 C371S COMP_HUMAN VAR_007625 C387G COMP_HUMAN VAR_007627 D408Y COMP_HUMAN VAR_007628 G440E COMP_HUMAN VAR_007629 G440R COMP_HUMAN VAR_007630 N453S COMP_HUMAN VAR_007632 C468Y COMP_HUMAN VAR_007634 D472Y COMP_HUMAN VAR_007635 D473G COMP_HUMAN VAR_007637 D482G COMP_HUMAN VAR_007639 D518N COMP_HUMAN VAR_007640 N523K COMP_HUMAN VAR_007641 T585M COMP_HUMAN VAR_007642 T585R COMP_HUMAN VAR_017102 C348R COMP_HUMAN VAR_017103 G719D COX15_HUMAN VAR_019596 R217W COX1_HUMAN VAR_008385 M273T COX1_HUMAN VAR_008386 I280T COX3_HUMAN VAR_002167 G78S COX3_HUMAN VAR_002168 A200T CP11A_HUMAN VAR_016949 A189V CP11A_HUMAN VAR_016951 R353W CP17A_HUMAN VAR_001271 Y64S CP17A_HUMAN VAR_001272 S106P CP17A_HUMAN VAR_001274 P342T CP17A_HUMAN VAR_001275 R347H CP17A_HUMAN VAR_001276 R358Q CP17A_HUMAN VAR_001277 H373L CP17A_HUMAN VAR_001278 R440H CP17A_HUMAN VAR_001280 R496C CP17A_HUMAN VAR_013147 F93C CP17A_HUMAN VAR_022745 P35L CP17A_HUMAN VAR_022746 R96W CP17A_HUMAN VAR_022747 F114V CP17A_HUMAN VAR_022748 D116V CP17A_HUMAN VAR_022749 N177D CP17A_HUMAN VAR_022750 Y329D CP17A_HUMAN VAR_022752 R347C CP17A_HUMAN VAR_022753 R362C CP17A_HUMAN VAR_022754 W406R CP17A_HUMAN VAR_022755 F417C CP17A_HUMAN VAR_022756 P428L CP17A_HUMAN VAR_022757 R496H CP19A_HUMAN VAR_016962 R364Q CP19A_HUMAN VAR_016963 R374C CP19A_HUMAN VAR_016964 R434C CP19A_HUMAN VAR_016965 C436Y CP21A_HUMAN VAR_001281 P30L CP21A_HUMAN VAR_001284 P105L CP21A_HUMAN VAR_001285 C169Y CP21A_HUMAN VAR_001286 I172N CP21A_HUMAN VAR_001288 I236N CP21A_HUMAN VAR_001289 V237E CP21A_HUMAN VAR_001290 M239K CP21A_HUMAN VAR_001293 G291S CP21A_HUMAN VAR_001294 R339H CP21A_HUMAN VAR_001295 R341W CP21A_HUMAN VAR_001296 R356P CP21A_HUMAN VAR_001297 R356Q CP21A_HUMAN VAR_001298 R356W CP21A_HUMAN VAR_001299 E380D CP21A_HUMAN VAR_001301 R483P CP21A_HUMAN VAR_007923 G64E CP21A_HUMAN VAR_007924 A362V CP21A_HUMAN VAR_018364 H62L CP21A_HUMAN VAR_018365 G291R CP21A_HUMAN VAR_018366 S301Y CP21A_HUMAN VAR_018367 R341P CP21A_HUMAN VAR_018368 R483Q CP27A_HUMAN VAR_001303 R395C CP27A_HUMAN VAR_001304 R479C CP27A_HUMAN VAR_012285 R395S CP27A_HUMAN VAR_012286 R405Q CP27A_HUMAN VAR_012287 R474Q CP27A_HUMAN VAR_012288 R474W CP27A_HUMAN VAR_016966 G145E CP4V2_HUMAN VAR_023084 W44R CP4V2_HUMAN VAR_023085 G61S CP4V2_HUMAN VAR_023086 E79D CP4V2_HUMAN VAR_023087 I111T CP4V2_HUMAN VAR_023088 M123V CP4V2_HUMAN VAR_023089 H331P CP4V2_HUMAN VAR_023090 S341P CP4V2_HUMAN VAR_023091 R508H CPSM_HUMAN VAR_006835 T544M CPSM_HUMAN VAR_014077 H337R CPSM_HUMAN VAR_017562 V457G CPSM_HUMAN VAR_017563 Q810R CPSM_HUMAN VAR_017564 L843S CPSM_HUMAN VAR_017565 K875E CPT1A_HUMAN VAR_020546 R123C CPT1A_HUMAN VAR_020548 C304W CPT1A_HUMAN VAR_020549 T314I CPT1A_HUMAN VAR_020550 R357W CPT1A_HUMAN VAR_020551 E360G CPT1A_HUMAN VAR_020553 A414V CPT1A_HUMAN VAR_020554 D454G CPT1A_HUMAN VAR_020555 P479L CPT1A_HUMAN VAR_020556 L484P CPT1A_HUMAN VAR_020557 Y498C CPT1A_HUMAN VAR_020558 G709E CPT1A_HUMAN VAR_020559 G710E CPT2_HUMAN VAR_001391 P50H CPT2_HUMAN VAR_001392 S113L CPT2_HUMAN VAR_001393 E174K CPT2_HUMAN VAR_001396 F383Y CPT2_HUMAN VAR_001397 D553N CPT2_HUMAN VAR_001398 Y628S CPT2_HUMAN VAR_001399 R631C CPT2_HUMAN VAR_007966 M214T CPT2_HUMAN VAR_007967 P227L CPT2_HUMAN VAR_007968 F448L CPT2_HUMAN VAR_007969 Y479F CPT2_HUMAN VAR_007970 R503C CPT2_HUMAN VAR_007971 G549D CPT2_HUMAN VAR_020540 R151Q CPT2_HUMAN VAR_020541 Y210D CPT2_HUMAN VAR_020542 R296Q CPT2_HUMAN VAR_020543 Q550R CPT2_HUMAN VAR_020544 G600R CPT2_HUMAN VAR_020545 P604S CRAL_HUMAN VAR_005140 R150Q CRAL_HUMAN VAR_015172 R233W CRGC_HUMAN VAR_021142 T4P CRGD_HUMAN VAR_010733 R14C CRGD_HUMAN VAR_010735 R58H CRGD_HUMAN VAR_021145 P23T CRLF1_HUMAN VAR_017865 R81H CRLF1_HUMAN VAR_017866 L374R CRUM1_HUMAN VAR_011641 A161V CRUM1_HUMAN VAR_011642 C250W CRUM1_HUMAN VAR_011643 T745M CRUM1_HUMAN VAR_011644 R764C CRUM1_HUMAN VAR_011645 C948Y CRUM1_HUMAN VAR_011646 M1041T CRUM1_HUMAN VAR_011647 L1071P CRUM1_HUMAN VAR_011648 I1100R CRUM1_HUMAN VAR_011649 C1181R CRUM1_HUMAN VAR_022941 F144V CRUM1_HUMAN VAR_022942 V162M CRUM1_HUMAN VAR_022943 C195F CRUM1_HUMAN VAR_022946 C383Y CRUM1_HUMAN VAR_022947 Y433C CRUM1_HUMAN VAR_022948 C480G CRUM1_HUMAN VAR_022949 C480R CRUM1_HUMAN VAR_022950 V578E CRUM1_HUMAN VAR_022951 D584Y CRUM1_HUMAN VAR_022952 C587Y CRUM1_HUMAN VAR_022954 C681Y CRUM1_HUMAN VAR_022955 E710Q CRUM1_HUMAN VAR_022956 M741T CRUM1_HUMAN VAR_022960 P836T CRUM1_HUMAN VAR_022961 D837H CRUM1_HUMAN VAR_022962 G846R CRUM1_HUMAN VAR_022963 G850S CRUM1_HUMAN VAR_022964 I852T CRUM1_HUMAN VAR_022965 C891G CRUM1_HUMAN VAR_022966 N894S CRUM1_HUMAN VAR_022968 G959S CRUM1_HUMAN VAR_022970 N986I CRUM1_HUMAN VAR_022971 I989T CRUM1_HUMAN VAR_022972 S1025I CRUM1_HUMAN VAR_022973 I1100T CRUM1_HUMAN VAR_022974 G1103R CRUM1_HUMAN VAR_022975 L1107P CRUM1_HUMAN VAR_022976 L1107R CRUM1_HUMAN VAR_022977 G1205R CRUM1_HUMAN VAR_022978 C1218F CRUM1_HUMAN VAR_022979 N1317H CRUM1_HUMAN VAR_022980 C1321S CRUM1_HUMAN VAR_022982 A1354T CRUM1_HUMAN VAR_022983 R1383H CRUM2_HUMAN VAR_022984 P46L CRUM2_HUMAN VAR_022985 V97L CRUM2_HUMAN VAR_022986 P116L CRUM2_HUMAN VAR_022989 E187D CRUM2_HUMAN VAR_022990 A351T CRUM2_HUMAN VAR_022991 R534Q CRX_HUMAN VAR_003750 R41W CRX_HUMAN VAR_003751 E80A CRX_HUMAN VAR_007946 R41Q CRX_HUMAN VAR_007949 V242M CRX_HUMAN VAR_008282 G122D CRYAA_HUMAN VAR_003819 R116C CRYAB_HUMAN VAR_007899 R120G CSRP3_HUMAN VAR_015401 W4R CTNS_HUMAN VAR_010285 V42I CTNS_HUMAN VAR_010286 G169D CTNS_HUMAN VAR_010287 K280R CTNS_HUMAN VAR_010288 N323K CTNS_HUMAN VAR_010677 I133F CTNS_HUMAN VAR_010678 S139F CTNS_HUMAN VAR_010680 L158P CTNS_HUMAN VAR_010681 W182R CTNS_HUMAN VAR_010682 G197R CTNS_HUMAN VAR_010683 D205N CTNS_HUMAN VAR_010690 D305G CTNS_HUMAN VAR_010691 D305Y CTNS_HUMAN VAR_010692 G308R CTNS_HUMAN VAR_010694 L338P CTNS_HUMAN VAR_010695 G339R CTNS_HUMAN VAR_010698 D346N CTNS_HUMAN VAR_012315 S298N CXA1_HUMAN VAR_015747 Y16S CXA1_HUMAN VAR_015748 S17P CXA1_HUMAN VAR_015749 G20R CXA1_HUMAN VAR_015750 G21E CXA1_HUMAN VAR_015751 K22T CXA1_HUMAN VAR_015752 A39V CXA1_HUMAN VAR_015753 Q48K CXA1_HUMAN VAR_015755 R75S CXA1_HUMAN VAR_015756 L89V CXA1_HUMAN VAR_015757 Y97C CXA1_HUMAN VAR_015758 K101N CXA1_HUMAN VAR_015759 I129T CXA1_HUMAN VAR_015760 K133E CXA1_HUMAN VAR_015761 G137R CXA1_HUMAN VAR_015762 R201H CXA1_HUMAN VAR_015763 V215L CXA3_HUMAN VAR_009158 N62S CXA3_HUMAN VAR_023447 P186L CXA8_HUMAN VAR_002005 P87S CXB1_HUMAN VAR_002006 W3R CXB1_HUMAN VAR_002007 W3S CXB1_HUMAN VAR_002008 Y7C CXB1_HUMAN VAR_002009 T8P CXB1_HUMAN VAR_002010 S11G CXB1_HUMAN VAR_002011 G12S CXB1_HUMAN VAR_002012 V13L CXB1_HUMAN VAR_002013 V13M CXB1_HUMAN VAR_002014 N14K CXB1_HUMAN VAR_002015 R15Q CXB1_HUMAN VAR_002016 R15W CXB1_HUMAN VAR_002017 H16P CXB1_HUMAN VAR_002018 I20S CXB1_HUMAN VAR_002019 G21D CXB1_HUMAN VAR_002020 R22G CXB1_HUMAN VAR_002021 R22P CXB1_HUMAN VAR_002022 R22Q CXB1_HUMAN VAR_002023 V23A CXB1_HUMAN VAR_002024 L25F CXB1_HUMAN VAR_002025 S26L CXB1_HUMAN VAR_002026 I28T CXB1_HUMAN VAR_002028 F29L CXB1_HUMAN VAR_002029 I30N CXB1_HUMAN VAR_002030 M34T CXB1_HUMAN VAR_002031 M34V CXB1_HUMAN VAR_002032 V35M CXB1_HUMAN VAR_002033 V38M CXB1_HUMAN VAR_002034 A39P CXB1_HUMAN VAR_002035 A39V CXB1_HUMAN VAR_002036 A40V CXB1_HUMAN VAR_002037 E41K CXB1_HUMAN VAR_002038 V43M CXB1_HUMAN VAR_002039 W44L CXB1_HUMAN VAR_002040 S49Y CXB1_HUMAN VAR_002041 S50P CXB1_HUMAN VAR_002042 C53S CXB1_HUMAN VAR_002043 L56F CXB1_HUMAN VAR_002045 G59C CXB1_HUMAN VAR_002046 C60F CXB1_HUMAN VAR_002047 V63I CXB1_HUMAN VAR_002048 C64S CXB1_HUMAN VAR_002049 Y65C CXB1_HUMAN VAR_002051 R75P CXB1_HUMAN VAR_002052 R75Q CXB1_HUMAN VAR_002053 R75W CXB1_HUMAN VAR_002054 W77S CXB1_HUMAN VAR_002055 Q80R CXB1_HUMAN VAR_002056 L81F CXB1_HUMAN VAR_002057 L83P CXB1_HUMAN VAR_002058 V84I CXB1_HUMAN VAR_002059 S85C CXB1_HUMAN VAR_002060 S85F CXB1_HUMAN VAR_002061 T86A CXB1_HUMAN VAR_002062 T86N CXB1_HUMAN VAR_002063 T86S CXB1_HUMAN VAR_002064 P87A CXB1_HUMAN VAR_002065 P87L CXB1_HUMAN VAR_002066 P87S CXB1_HUMAN VAR_002067 L89P CXB1_HUMAN VAR_002068 L90H CXB1_HUMAN VAR_002069 M93V CXB1_HUMAN VAR_002070 H94Q CXB1_HUMAN VAR_002071 H94Y CXB1_HUMAN VAR_002072 V95M CXB1_HUMAN VAR_002073 H100Y CXB1_HUMAN VAR_002074 E102G CXB1_HUMAN VAR_002075 K103E CXB1_HUMAN VAR_002076 R107W CXB1_HUMAN VAR_002078 K124N CXB1_HUMAN VAR_002079 S128P CXB1_HUMAN VAR_002080 W133C CXB1_HUMAN VAR_002081 W133R CXB1_HUMAN VAR_002082 Y135C CXB1_HUMAN VAR_002083 V139M CXB1_HUMAN VAR_002084 F141L CXB1_HUMAN VAR_002085 R142E CXB1_HUMAN VAR_002086 R142W CXB1_HUMAN VAR_002088 F149I CXB1_HUMAN VAR_002089 L156F CXB1_HUMAN VAR_002090 L156R CXB1_HUMAN VAR_002091 Y157C CXB1_HUMAN VAR_002092 P158A CXB1_HUMAN VAR_002093 P158R CXB1_HUMAN VAR_002094 P158S CXB1_HUMAN VAR_002095 G159S CXB1_HUMAN VAR_002096 Y160H CXB1_HUMAN VAR_002097 A161P CXB1_HUMAN VAR_002098 R164Q CXB1_HUMAN VAR_002099 R164W CXB1_HUMAN VAR_002101 P172S CXB1_HUMAN VAR_002102 C173R CXB1_HUMAN VAR_002104 D178Y CXB1_HUMAN VAR_002105 C179R CXB1_HUMAN VAR_002106 F180L CXB1_HUMAN VAR_002107 V181M CXB1_HUMAN VAR_002108 S182T CXB1_HUMAN VAR_002109 R183C CXB1_HUMAN VAR_002110 R183H CXB1_HUMAN VAR_002111 R183S CXB1_HUMAN VAR_002112 P184R CXB1_HUMAN VAR_002114 E186K CXB1_HUMAN VAR_002115 K187E CXB1_HUMAN VAR_002116 V189G CXB1_HUMAN VAR_002117 V189I CXB1_HUMAN VAR_002119 F193C CXB1_HUMAN VAR_002120 M194V CXB1_HUMAN VAR_002121 S198F CXB1_HUMAN VAR_002122 G199R CXB1_HUMAN VAR_002123 C201R CXB1_HUMAN VAR_002124 I203N CXB1_HUMAN VAR_002125 L204F CXB1_HUMAN VAR_002126 N205S CXB1_HUMAN VAR_002127 E208K CXB1_HUMAN VAR_002129 R215W CXB1_HUMAN VAR_002130 R219C CXB1_HUMAN VAR_002131 R219H CXB1_HUMAN VAR_002132 R220G CXB1_HUMAN VAR_002133 R230C CXB1_HUMAN VAR_002134 R230L CXB1_HUMAN VAR_002135 F235C CXB1_HUMAN VAR_002136 R238H CXB1_HUMAN VAR_008137 T55I CXB1_HUMAN VAR_008138 V120E CXB1_HUMAN VAR_012313 Y65H CXB1_HUMAN VAR_021611 V136A CXB1_HUMAN VAR_021612 C168R CXB2_HUMAN VAR_002139 V37I CXB2_HUMAN VAR_002140 R75W CXB2_HUMAN VAR_002141 W77R CXB2_HUMAN VAR_002143 V84L CXB2_HUMAN VAR_002144 V95M CXB2_HUMAN VAR_002145 S113R CXB2_HUMAN VAR_008709 W44C CXB2_HUMAN VAR_008710 D66H CXB2_HUMAN VAR_009965 G59A CXB2_HUMAN VAR_015453 G12R CXB2_HUMAN VAR_015454 S17F CXB2_HUMAN VAR_015456 D50N CXB2_HUMAN VAR_015460 R143W CXB2_HUMAN VAR_015935 D50Y CXB2_HUMAN VAR_015936 R75Q CXB2_HUMAN VAR_015937 L90P CXB2_HUMAN VAR_015940 R143Q CXB2_HUMAN VAR_015941 D159V CXB2_HUMAN VAR_015943 R184P CXB2_HUMAN VAR_015944 C202F CXB2_HUMAN VAR_023605 R32H CXB2_HUMAN VAR_023607 L79P CXB2_HUMAN VAR_023608 Q80K CXB2_HUMAN VAR_023609 M93I CXB2_HUMAN VAR_023611 E129K CXB2_HUMAN VAR_023613 V178A CXB2_HUMAN VAR_023614 R184Q CXB2_HUMAN VAR_023615 A197S CXB2_HUMAN VAR_023616 I203K CXB2_HUMAN VAR_023617 L214P CXB3_HUMAN VAR_002147 G12D CXB3_HUMAN VAR_002148 G12R CXB3_HUMAN VAR_002149 C86S CXB3_HUMAN VAR_002150 E183K CXB3_HUMAN VAR_015085 R42P CXB3_HUMAN VAR_015086 F137L CXB3_HUMAN VAR_015087 I141V CXB4_HUMAN VAR_010206 F137L CXB6_HUMAN VAR_008711 T5M CXB6_HUMAN VAR_015696 G11R CXB6_HUMAN VAR_015697 A88V CXB6_HUMAN VAR_016838 V37E CY24A_HUMAN VAR_005123 R89Q CY24A_HUMAN VAR_005124 H93R CY24A_HUMAN VAR_005125 S117R CY24A_HUMAN VAR_005126 P155Q CY24A_HUMAN VAR_012755 G23R CY24B_HUMAN VAR_002432 H100R CY24B_HUMAN VAR_002433 A155T CY24B_HUMAN VAR_002434 H208Y CY24B_HUMAN VAR_002435 E224V CY24B_HUMAN VAR_002436 C243S CY24B_HUMAN VAR_002437 C243Y CY24B_HUMAN VAR_002438 P338H CY24B_HUMAN VAR_002439 G388A CY24B_HUMAN VAR_002440 P414H CY24B_HUMAN VAR_002441 D499G CY24B_HUMAN VAR_007873 G19R CY24B_HUMAN VAR_007874 R53S CY24B_HUMAN VAR_007875 C58R CY24B_HUMAN VAR_007876 H100Y CY24B_HUMAN VAR_007877 H118R CY24B_HUMAN VAR_007878 H208Q CY24B_HUMAN VAR_007880 H221N CY24B_HUMAN VAR_007881 H221R CY24B_HUMAN VAR_007882 H221Y CY24B_HUMAN VAR_007883 G222L CY24B_HUMAN VAR_007884 C243R CY24B_HUMAN VAR_007885 E308K CY24B_HUMAN VAR_007886 G321E CY24B_HUMAN VAR_007887 I324F CY24B_HUMAN VAR_007888 S332P CY24B_HUMAN VAR_007889 R355P CY24B_HUMAN VAR_007890 M404R CY24B_HUMAN VAR_007891 G407E CY24B_HUMAN VAR_007892 G407R CY24B_HUMAN VAR_007893 P414L CY24B_HUMAN VAR_007894 S421P CY24B_HUMAN VAR_007895 W452R CY24B_HUMAN VAR_007896 W515C CY24B_HUMAN VAR_007897 V533D CY24B_HUMAN VAR_007898 C536R CY24B_HUMAN VAR_008845 A56E CY24B_HUMAN VAR_016880 H302N CY24B_HUMAN VAR_016881 P303R CYB_HUMAN VAR_002197 D171N CYB_HUMAN VAR_002199 V356M CYB_HUMAN VAR_013656 G251D CYTB_HUMAN VAR_002206 G4R CYTC_HUMAN VAR_002207 L94Q DAX1_HUMAN VAR_004738 R267P DAX1_HUMAN VAR_004740 W291C DAX1_HUMAN VAR_004741 A300V DAX1_HUMAN VAR_004742 E377K DAX1_HUMAN VAR_004743 K382N DAX1_HUMAN VAR_004744 V385G DAX1_HUMAN VAR_004745 R425G DAX1_HUMAN VAR_004746 N440I DAX1_HUMAN VAR_018300 Y380D DAX1_HUMAN VAR_018301 L381H DAX1_HUMAN VAR_018302 I439S DAX1_HUMAN VAR_018303 L295P DAX1_HUMAN VAR_018304 A300P DAX1_HUMAN VAR_018305 R425T DAX1_HUMAN VAR_018306 L466R DAZL_HUMAN VAR_017781 T54A DCR1C_HUMAN VAR_023077 H35D DCR1C_HUMAN VAR_023078 G118V DCR1C_HUMAN VAR_023079 G135E DCUP_HUMAN VAR_007714 E167K DCUP_HUMAN VAR_007715 G281E DCUP_HUMAN VAR_007716 G281V DCUP_HUMAN VAR_007717 R292G DCUP_HUMAN VAR_007910 A80G DCUP_HUMAN VAR_007911 M165R DCUP_HUMAN VAR_007912 L195F DCUP_HUMAN VAR_007913 L253Q DCUP_HUMAN VAR_007914 N304K DCUP_HUMAN VAR_007915 G318R DCUP_HUMAN VAR_007916 R332H DCUP_HUMAN VAR_007917 I334T DCUP_HUMAN VAR_009103 P62L DCUP_HUMAN VAR_009104 V134Q DCUP_HUMAN VAR_009105 H220P DCUP_HUMAN VAR_009106 F229L DCUP_HUMAN VAR_009107 Y311C DCUP_HUMAN VAR_009108 M324T DCUP_HUMAN VAR_010985 R142Q DCUP_HUMAN VAR_010986 L161Q DCUP_HUMAN VAR_010987 S219F DCUP_HUMAN VAR_010988 P235S DCUP_HUMAN VAR_022567 G25E DCUP_HUMAN VAR_022568 F46L DCUP_HUMAN VAR_022569 A80S DCUP_HUMAN VAR_022570 R144P DCUP_HUMAN VAR_022571 G156D DCUP_HUMAN VAR_022572 R193P DCUP_HUMAN VAR_022573 L216Q DCUP_HUMAN VAR_022574 E218K DCUP_HUMAN VAR_022575 F232L DCUP_HUMAN VAR_022576 I260T DCUP_HUMAN VAR_022577 L282R DCUP_HUMAN VAR_022578 G303S DCX_HUMAN VAR_007819 L85S DCX_HUMAN VAR_007820 S89R DCX_HUMAN VAR_007821 R101L DCX_HUMAN VAR_007823 D104N DCX_HUMAN VAR_007826 G142A DCX_HUMAN VAR_007827 R144S DCX_HUMAN VAR_007828 Y167H DCX_HUMAN VAR_007833 R234W DCX_HUMAN VAR_007835 T245R DDC_HUMAN VAR_019309 G102S DESM_HUMAN VAR_007900 A336P DESM_HUMAN VAR_007901 A359P DESM_HUMAN VAR_007902 N392I DESM_HUMAN VAR_009189 L344P DESM_HUMAN VAR_018771 L384P DESM_HUMAN VAR_018772 Q388P DESM_HUMAN VAR_018773 I450M DESP_HUMAN VAR_015402 S299R DESP_HUMAN VAR_015569 N287K DESP_HUMAN VAR_015570 R2366C DGUOK_HUMAN VAR_019417 R142K DGUOK_HUMAN VAR_019418 E227K DHB3_HUMAN VAR_006953 R80Q DHB3_HUMAN VAR_006954 R80W DHB3_HUMAN VAR_006955 A203V DHB3_HUMAN VAR_006956 S232L DHB3_HUMAN VAR_006957 M235V DHB3_HUMAN VAR_016067 A56T DHB3_HUMAN VAR_016068 S65L DHB3_HUMAN VAR_016069 N130S DHB3_HUMAN VAR_016070 Q176P DHB3_HUMAN VAR_016071 V205E DHB3_HUMAN VAR_016072 F208I DHB3_HUMAN VAR_016073 C268Y DHB3_HUMAN VAR_016074 P282L DHB3_HUMAN VAR_016203 E215D DHC24_HUMAN VAR_012732 E191K DHC24_HUMAN VAR_012733 N294T DHC24_HUMAN VAR_012734 K306N DHC24_HUMAN VAR_012735 Y471S DHCR7_HUMAN VAR_012717 P51S DHCR7_HUMAN VAR_012718 T93M DHCR7_HUMAN VAR_012719 L99P DHCR7_HUMAN VAR_012720 H119L DHCR7_HUMAN VAR_012721 L157P DHCR7_HUMAN VAR_012722 G244R DHCR7_HUMAN VAR_012723 A247V DHCR7_HUMAN VAR_012724 W248C DHCR7_HUMAN VAR_012725 T289I DHCR7_HUMAN VAR_012726 V326L DHCR7_HUMAN VAR_012727 R352W DHCR7_HUMAN VAR_012728 C380S DHCR7_HUMAN VAR_012729 R404C DHCR7_HUMAN VAR_012730 G410S DHCR7_HUMAN VAR_016975 E448K DHCR7_HUMAN VAR_023148 L68P DHCR7_HUMAN VAR_023149 Q107H DHCR7_HUMAN VAR_023150 L109P DHCR7_HUMAN VAR_023151 S113C DHCR7_HUMAN VAR_023152 G138V DHCR7_HUMAN VAR_023153 I145L DHCR7_HUMAN VAR_023154 G147D DHCR7_HUMAN VAR_023155 T154M DHCR7_HUMAN VAR_023156 S169L DHCR7_HUMAN VAR_023157 W182C DHCR7_HUMAN VAR_023158 W182L DHCR7_HUMAN VAR_023159 C183Y DHCR7_HUMAN VAR_023160 K198E DHCR7_HUMAN VAR_023161 F235S DHCR7_HUMAN VAR_023162 R242C DHCR7_HUMAN VAR_023163 R242H DHCR7_HUMAN VAR_023164 F255L DHCR7_HUMAN VAR_023165 V281M DHCR7_HUMAN VAR_023166 I297T DHCR7_HUMAN VAR_023167 C311G DHCR7_HUMAN VAR_023168 C311Y DHCR7_HUMAN VAR_023169 Y324H DHCR7_HUMAN VAR_023170 G344R DHCR7_HUMAN VAR_023171 R352Q DHCR7_HUMAN VAR_023172 V353A DHCR7_HUMAN VAR_023173 R362C DHCR7_HUMAN VAR_023174 C380R DHCR7_HUMAN VAR_023175 C380Y DHCR7_HUMAN VAR_023176 S397L DHCR7_HUMAN VAR_023177 R404S DHCR7_HUMAN VAR_023178 H405Y DHCR7_HUMAN VAR_023179 Y408H DHCR7_HUMAN VAR_023180 G410R DHCR7_HUMAN VAR_023181 H426P DHCR7_HUMAN VAR_023182 R443C DHCR7_HUMAN VAR_023183 R446Q DHCR7_HUMAN VAR_023184 E448Q DHCR7_HUMAN VAR_023185 R450L DHE3_HUMAN VAR_008666 S498L DHE3_HUMAN VAR_008667 G499D DHE3_HUMAN VAR_008668 G499S DHE3_HUMAN VAR_008669 S501P DHE3_HUMAN VAR_008670 H507Y DHE3_HUMAN VAR_009270 R318K DHE3_HUMAN VAR_009271 E349A DHE3_HUMAN VAR_016760 S270C DHE3_HUMAN VAR_016761 R274C DHE3_HUMAN VAR_016762 R318T DHE3_HUMAN VAR_016763 Y319C DHE3_HUMAN VAR_016764 R322C DHE3_HUMAN VAR_016765 R322H DHI2_HUMAN VAR_006958 R208C DHI2_HUMAN VAR_006959 R213C DHI2_HUMAN VAR_015635 L179R DHI2_HUMAN VAR_015636 S180F DHI2_HUMAN VAR_015637 R186C DHI2_HUMAN VAR_015638 R208H DHI2_HUMAN VAR_015640 A237V DHI2_HUMAN VAR_015641 D244N DHI2_HUMAN VAR_015642 L250R DHI2_HUMAN VAR_015644 R279C DHI2_HUMAN VAR_015645 A328V DHI2_HUMAN VAR_015646 R337C DHPR_HUMAN VAR_006960 G23D DHPR_HUMAN VAR_006961 W36R DHPR_HUMAN VAR_006962 L74P DHPR_HUMAN VAR_006963 W108G DHPR_HUMAN VAR_006965 P145L DHPR_HUMAN VAR_006966 Y150C DHPR_HUMAN VAR_006967 G151S DHPR_HUMAN VAR_006968 H158Y DHPR_HUMAN VAR_006969 G170S DHPR_HUMAN VAR_006970 F212C DHPR_HUMAN VAR_008121 L14P DHPR_HUMAN VAR_008122 G17V DHPR_HUMAN VAR_021767 G17R DHPR_HUMAN VAR_021768 G18D DHPR_HUMAN VAR_021769 Q66R DHPR_HUMAN VAR_021770 G149R DHSA_HUMAN VAR_002449 R554W DHSA_HUMAN VAR_016878 A524V DHSA_HUMAN VAR_016879 G555E DKC1_HUMAN VAR_006811 F35V DKC1_HUMAN VAR_006813 P39R DKC1_HUMAN VAR_006814 L71Y DKC1_HUMAN VAR_006815 G401E DKC1_HUMAN VAR_009264 A352V DKC1_HUMAN VAR_010076 A1V DKC1_HUMAN VAR_010077 K38E DKC1_HUMAN VAR_010078 E40K DKC1_HUMAN VAR_010079 R64T DKC1_HUMAN VAR_010080 T65A DKC1_HUMAN VAR_010081 L320V DKC1_HUMAN VAR_010082 M349I DKC1_HUMAN VAR_010083 M349T DKC1_HUMAN VAR_010084 G401R DKC1_HUMAN VAR_015674 I37T DKC1_HUMAN VAR_015675 T48M DKC1_HUMAN VAR_015676 S120G DLDH_HUMAN VAR_006907 K72E DLDH_HUMAN VAR_006908 P488L DLDH_HUMAN VAR_015820 G229C DLDH_HUMAN VAR_015821 R495G DLL3_HUMAN VAR_009952 G385D DMD_HUMAN VAR_005147 L54R DMD_HUMAN VAR_005149 A168D DMD_HUMAN VAR_005150 Y231N DMD_HUMAN VAR_005154 K773E DMD_HUMAN VAR_005172 A3421V DMD_HUMAN VAR_023537 K18N DMD_HUMAN VAR_023539 A171P DMD_HUMAN VAR_023540 T279A DMD_HUMAN VAR_023541 D645G DMD_HUMAN VAR_023542 N1672K DMD_HUMAN VAR_023544 F3228L DMD_HUMAN VAR_023546 D3335H DMD_HUMAN VAR_023547 C3340Y DNC_HUMAN VAR_014103 G177A DNL4_HUMAN VAR_012774 R211H DNL4_HUMAN VAR_012775 G402E DNM3B_HUMAN VAR_011499 A603T DNM3B_HUMAN VAR_011500 G663S DNM3B_HUMAN VAR_011501 V726G DNM3B_HUMAN VAR_011503 D817G DNM3B_HUMAN VAR_011504 V818M DNM3B_HUMAN VAR_011506 A585V DNM3B_HUMAN VAR_011507 V606A DNM3B_HUMAN VAR_011508 V699G DNM3B_HUMAN VAR_011509 A766P DNM3B_HUMAN VAR_011510 H814R DNM3B_HUMAN VAR_022579 S270P DNM3B_HUMAN VAR_022580 L664P DNM3B_HUMAN VAR_022581 R840Q DOPO_HUMAN VAR_022758 V87M DOPO_HUMAN VAR_022759 D100E DOPO_HUMAN VAR_022760 D331N DPM1_HUMAN VAR_012341 R92G DPM1_HUMAN VAR_019841 S248P DPOG1_HUMAN VAR_012153 R3P DPOG1_HUMAN VAR_012154 L304R DPOG1_HUMAN VAR_012155 A467T DPOG1_HUMAN VAR_012156 Y955C DPYS_HUMAN VAR_002267 T68R DPYS_HUMAN VAR_002268 Q334R DPYS_HUMAN VAR_002269 W360R DPYS_HUMAN VAR_002270 G435R DPYS_HUMAN VAR_002271 R490T DRD2_HUMAN VAR_017143 V154I DSPP_HUMAN VAR_012280 P17T DSPP_HUMAN VAR_012281 V18F DSRAD_HUMAN VAR_017604 L923P DSRAD_HUMAN VAR_017605 F1165S DSRAD_HUMAN VAR_021729 C966F DYH11_HUMAN VAR_013859 R3004Q DYH5_HUMAN VAR_019608 G3519R DYI3_HUMAN VAR_016775 G515S DYM_HUMAN VAR_022740 E87K DYM_HUMAN VAR_022741 N469Y DYNA_HUMAN VAR_015850 G59S DYSF_HUMAN VAR_012308 P791R DYSF_HUMAN VAR_012309 I1298V DYSF_HUMAN VAR_012310 H1857R DYSF_HUMAN VAR_012311 R2042C E2AK3_HUMAN VAR_011408 R587Q EBP_HUMAN VAR_012105 E80K EBP_HUMAN VAR_012106 R110Q EBP_HUMAN VAR_012107 R147G EBP_HUMAN VAR_012108 R147H ECHA_HUMAN VAR_002273 E510Q ECHA_HUMAN VAR_021125 V282D ECHA_HUMAN VAR_021126 I305N ECHA_HUMAN VAR_021127 L342P ECHB_HUMAN VAR_007493 R62H ECHB_HUMAN VAR_007494 R248H ECHB_HUMAN VAR_007495 D264G ECHB_HUMAN VAR_017409 R445K ECHB_HUMAN VAR_021128 G60D ECHB_HUMAN VAR_021129 R62C ECHB_HUMAN VAR_021130 R118G ECHB_HUMAN VAR_021131 L122P ECHB_HUMAN VAR_021132 T134P ECHB_HUMAN VAR_021133 D243G ECHB_HUMAN VAR_021135 G281D ECHB_HUMAN VAR_021136 P295L ECHB_HUMAN VAR_021137 P295R ECHB_HUMAN VAR_021138 G302S ECM1_HUMAN VAR_018691 F167I EDAD_HUMAN VAR_013482 E152K EDAR_HUMAN VAR_013448 C87R EDAR_HUMAN VAR_013449 R89H EDAR_HUMAN VAR_013450 R420Q EDN3_HUMAN VAR_002353 C159F EDN3_HUMAN VAR_015238 Y127C EDNRB_HUMAN VAR_003470 A183G EDNRB_HUMAN VAR_003471 W276C EDNRB_HUMAN VAR_003473 R319W EDNRB_HUMAN VAR_003474 M374I EDNRB_HUMAN VAR_003475 P383L EDNRB_HUMAN VAR_015294 F292L EFG1_HUMAN VAR_021512 N174S EFNB1_HUMAN VAR_023127 P27R EFNB1_HUMAN VAR_023128 P54L EFNB1_HUMAN VAR_023129 I62T EFNB1_HUMAN VAR_023130 L98S EFNB1_HUMAN VAR_023131 T111I EFNB1_HUMAN VAR_023132 Q115P EFNB1_HUMAN VAR_023133 P119H EFNB1_HUMAN VAR_023134 P119S EFNB1_HUMAN VAR_023135 P119T EFNB1_HUMAN VAR_023136 T137A EFNB1_HUMAN VAR_023137 S138F EFNB1_HUMAN VAR_023138 G151S EFNB1_HUMAN VAR_023139 G151V EFNB1_HUMAN VAR_023140 C153S EFNB1_HUMAN VAR_023141 C153Y EFNB1_HUMAN VAR_023143 T155P EFNB1_HUMAN VAR_023144 M158I EFNB1_HUMAN VAR_023145 M158V EFNB1_HUMAN VAR_023146 S182R EGLN_HUMAN VAR_005193 G52V EGLN_HUMAN VAR_005194 C53R EGLN_HUMAN VAR_005195 W149C EGLN_HUMAN VAR_005197 L306P EGLN_HUMAN VAR_009120 A160D EGLN_HUMAN VAR_009121 L221P EGR2_HUMAN VAR_007735 I268N EGR2_HUMAN VAR_007736 D355V EGR2_HUMAN VAR_007738 R409W EGR2_HUMAN VAR_009874 R359W EGR2_HUMAN VAR_009875 R381H EI2BA_HUMAN VAR_015404 N208Y EI2BB_HUMAN VAR_012289 E213G EI2BB_HUMAN VAR_012290 V316D EI2BB_HUMAN VAR_012321 K273R EI2BB_HUMAN VAR_012322 G329V EI2BB_HUMAN VAR_016842 S171F EI2BD_HUMAN VAR_015405 A228V EI2BD_HUMAN VAR_015407 R357Q EI2BD_HUMAN VAR_015408 R374C EI2BD_HUMAN VAR_016843 C465R EI2BD_HUMAN VAR_016844 Y489H EI2BE_HUMAN VAR_012291 T91A EI2BE_HUMAN VAR_012292 R113H EI2BE_HUMAN VAR_012293 G386V EI2BE_HUMAN VAR_012294 W628R EI2BE_HUMAN VAR_012323 V73G EI2BE_HUMAN VAR_012324 L106F EI2BE_HUMAN VAR_012325 R299H EI2BE_HUMAN VAR_012326 R315G EI2BE_HUMAN VAR_012327 R315H EI2BE_HUMAN VAR_012328 R339P EI2BE_HUMAN VAR_012329 R339Q EI2BE_HUMAN VAR_012330 R339W EI2BE_HUMAN VAR_012331 V430A EI2BE_HUMAN VAR_012333 E650K EI2BE_HUMAN VAR_016846 R195H EI2BG_HUMAN VAR_015409 A87V EI2BG_HUMAN VAR_015410 R225Q ELNE_HUMAN VAR_009538 G32V ELNE_HUMAN VAR_009539 V177F ELNE_HUMAN VAR_009540 R191Q EMD_HUMAN VAR_005198 S54F EMD_HUMAN VAR_005199 P183H EMD_HUMAN VAR_005200 P183T EMD_HUMAN VAR_016016 Q133H ENPP1_HUMAN VAR_014141 L91P ENPP1_HUMAN VAR_014143 S287F ENPP1_HUMAN VAR_018514 L579F ENPP1_HUMAN VAR_018515 R774C EPB42_HUMAN VAR_007482 A111T EPB42_HUMAN VAR_012268 R279Q EPM2A_HUMAN VAR_019465 S25P EPM2A_HUMAN VAR_019466 E28K EPM2A_HUMAN VAR_019467 W32G EPM2A_HUMAN VAR_019469 F84L EPM2A_HUMAN VAR_019470 F88L EPM2A_HUMAN VAR_019471 R91P EPM2A_HUMAN VAR_019472 R108C EPM2A_HUMAN VAR_019474 R171H EPM2A_HUMAN VAR_019475 T187A EPM2A_HUMAN VAR_019476 T194I EPM2A_HUMAN VAR_019477 G240S EPM2A_HUMAN VAR_019478 G279S EPM2A_HUMAN VAR_019479 Q293L EPM2A_HUMAN VAR_019480 Y294N EPM2A_HUMAN VAR_019481 P301L ERCC2_HUMAN VAR_003622 R112H ERCC2_HUMAN VAR_003623 L461V ERCC2_HUMAN VAR_003625 S541R ERCC2_HUMAN VAR_003626 R616P ERCC2_HUMAN VAR_003627 G602D ERCC2_HUMAN VAR_003628 G675R ERCC2_HUMAN VAR_003630 R722W ERCC2_HUMAN VAR_003631 A725P ERCC2_HUMAN VAR_008187 G47R ERCC2_HUMAN VAR_008188 D234N ERCC2_HUMAN VAR_008189 C259Y ERCC2_HUMAN VAR_008191 Y542C ERCC2_HUMAN VAR_008192 R601L ERCC2_HUMAN VAR_008193 R616W ERCC2_HUMAN VAR_008194 R658C ERCC2_HUMAN VAR_008195 R658H ERCC2_HUMAN VAR_008196 D673G ERCC2_HUMAN VAR_008197 R683Q ERCC2_HUMAN VAR_008198 R683W ERCC2_HUMAN VAR_008199 G713R ERCC2_HUMAN VAR_017282 T76A ERCC2_HUMAN VAR_017283 L485P ERCC2_HUMAN VAR_017284 R487G ERCC2_HUMAN VAR_017285 R511Q ERCC2_HUMAN VAR_017287 R592P ERCC2_HUMAN VAR_017288 A594P ERCC2_HUMAN VAR_017289 R601W ERCC2_HUMAN VAR_017290 R658G ERCC2_HUMAN VAR_017291 C663R ERCC2_HUMAN VAR_017292 R666W ERCC2_HUMAN VAR_017293 D681N ERCC3_HUMAN VAR_003632 F99S ERCC3_HUMAN VAR_008186 T119P ERCC4_HUMAN VAR_005850 R788W ERCC4_HUMAN VAR_008200 I214M ERCC4_HUMAN VAR_008201 R443W ERCC4_HUMAN VAR_008202 R479Q ERCC4_HUMAN VAR_008203 E491K ERCC4_HUMAN VAR_008204 G502R ERCC4_HUMAN VAR_008205 I518T ERCC4_HUMAN VAR_008206 T556A ERCC4_HUMAN VAR_013398 L597P ERCC5_HUMAN VAR_007733 A792V ERCC5_HUMAN VAR_015280 P72H ERCC5_HUMAN VAR_017096 A874T ERCC5_HUMAN VAR_017097 L858P ERCC6_HUMAN VAR_001218 R670W ERCC6_HUMAN VAR_001219 W851R ERCC6_HUMAN VAR_001220 V957G ERCC6_HUMAN VAR_001221 P1042L ESCO2_HUMAN VAR_022649 W539G ETFA_HUMAN VAR_002366 G116R ETFA_HUMAN VAR_002367 V157G ETFA_HUMAN VAR_002368 T266M ETFB_HUMAN VAR_002369 R164Q ETHE1_HUMAN VAR_023395 Y38C ETHE1_HUMAN VAR_023396 T136A ETHE1_HUMAN VAR_023397 R163W ETHE1_HUMAN VAR_023398 L185R EVC_HUMAN VAR_009944 S307P EVC_HUMAN VAR_009946 R443Q EXT1_HUMAN VAR_002370 R280G EXT1_HUMAN VAR_002371 R280S EXT1_HUMAN VAR_002372 G339D EXT1_HUMAN VAR_002373 R340C EXT1_HUMAN VAR_002374 R340H EXT1_HUMAN VAR_002375 R340L EXT1_HUMAN VAR_002376 R340S EXT1_HUMAN VAR_012815 Q27K EXT1_HUMAN VAR_012816 D164H EXT1_HUMAN VAR_012821 A486V EXT1_HUMAN VAR_012822 P496L EXT2_HUMAN VAR_002378 D227N EXT2_HUMAN VAR_012823 C85R EXT2_HUMAN VAR_012824 L152R EXT2_HUMAN VAR_012825 R179S EXT2_HUMAN VAR_012826 A202V EXT2_HUMAN VAR_012827 R223P EXT2_HUMAN VAR_012828 I380T EYA1_HUMAN VAR_005203 S487P EYA1_HUMAN VAR_005204 L505R EYA1_HUMAN VAR_016865 G426S EYA1_HUMAN VAR_016866 D429G EYA1_HUMAN VAR_016867 R440Q EYA1_HUMAN VAR_016869 L583P F13A_HUMAN VAR_007474 R681H F16P1_HUMAN VAR_002380 G163S F16P1_HUMAN VAR_002381 A176D FA11_HUMAN VAR_006622 F301L FA11_HUMAN VAR_012085 D34H FA11_HUMAN VAR_012086 W246C FA11_HUMAN VAR_012087 S266N FA11_HUMAN VAR_012088 L320P FA11_HUMAN VAR_012089 T322I FA11_HUMAN VAR_012090 R326C FA11_HUMAN VAR_012091 E341K FA11_HUMAN VAR_012092 T404N FA11_HUMAN VAR_012093 A430V FA11_HUMAN VAR_012094 F460V FA11_HUMAN VAR_012095 T493I FA11_HUMAN VAR_012096 S594R FA5_HUMAN VAR_013620 R334G FA5_HUMAN VAR_013621 R334T FA5_HUMAN VAR_017329 R2102H FA8_HUMAN VAR_001045 L26R FA8_HUMAN VAR_001046 E30V FA8_HUMAN VAR_001047 G41C FA8_HUMAN VAR_001048 R48C FA8_HUMAN VAR_001050 G89D FA8_HUMAN VAR_001051 G89V FA8_HUMAN VAR_001052 V99D FA8_HUMAN VAR_001053 V104D FA8_HUMAN VAR_001054 K108T FA8_HUMAN VAR_001055 M110V FA8_HUMAN VAR_001056 L117R FA8_HUMAN VAR_001057 E129V FA8_HUMAN VAR_001058 G130R FA8_HUMAN VAR_001059 E132D FA8_HUMAN VAR_001060 Y133C FA8_HUMAN VAR_001061 D135G FA8_HUMAN VAR_001062 T137I FA8_HUMAN VAR_001063 G164V FA8_HUMAN VAR_001064 P165S FA8_HUMAN VAR_001065 V181M FA8_HUMAN VAR_001066 K185T FA8_HUMAN VAR_001067 S189L FA8_HUMAN VAR_001068 D222V FA8_HUMAN VAR_001069 G224W FA8_HUMAN VAR_001070 V253F FA8_HUMAN VAR_001071 G266E FA8_HUMAN VAR_001072 G278R FA8_HUMAN VAR_001073 V285G FA8_HUMAN VAR_001074 E291G FA8_HUMAN VAR_001075 T294I FA8_HUMAN VAR_001076 N299I FA8_HUMAN VAR_001077 R301H FA8_HUMAN VAR_001078 R301L FA8_HUMAN VAR_001079 S308L FA8_HUMAN VAR_001080 F312S FA8_HUMAN VAR_001081 T314A FA8_HUMAN VAR_001082 T314I FA8_HUMAN VAR_001083 L327P FA8_HUMAN VAR_001084 I331V FA8_HUMAN VAR_001085 V345L FA8_HUMAN VAR_001086 C348R FA8_HUMAN VAR_001087 C348S FA8_HUMAN VAR_001088 C348Y FA8_HUMAN VAR_001089 R391C FA8_HUMAN VAR_001090 R391H FA8_HUMAN VAR_001091 R391P FA8_HUMAN VAR_001092 S392L FA8_HUMAN VAR_001093 S392P FA8_HUMAN VAR_001094 I405S FA8_HUMAN VAR_001095 E409G FA8_HUMAN VAR_001096 L431F FA8_HUMAN VAR_001097 G439V FA8_HUMAN VAR_001098 K444R FA8_HUMAN VAR_001099 Y450N FA8_HUMAN VAR_001100 G474R FA8_HUMAN VAR_001101 A488G FA8_HUMAN VAR_001102 Y492H FA8_HUMAN VAR_001103 Y492C FA8_HUMAN VAR_001104 I494T FA8_HUMAN VAR_001105 G498R FA8_HUMAN VAR_001106 D544N FA8_HUMAN VAR_001107 R546W FA8_HUMAN VAR_001108 R550C FA8_HUMAN VAR_001109 R550G FA8_HUMAN VAR_001110 R550H FA8_HUMAN VAR_001111 S554G FA8_HUMAN VAR_001112 V556D FA8_HUMAN VAR_001113 S577F FA8_HUMAN VAR_001114 Q584K FA8_HUMAN VAR_001115 I585T FA8_HUMAN VAR_001116 S596P FA8_HUMAN VAR_001117 S603I FA8_HUMAN VAR_001118 W604C FA8_HUMAN VAR_001119 Y605S FA8_HUMAN VAR_001120 R612C FA8_HUMAN VAR_001121 N631K FA8_HUMAN VAR_001122 N631S FA8_HUMAN VAR_001123 L644V FA8_HUMAN VAR_001124 V653A FA8_HUMAN VAR_001125 V653M FA8_HUMAN VAR_001126 A663V FA8_HUMAN VAR_001128 F677L FA8_HUMAN VAR_001129 M699V FA8_HUMAN VAR_001130 R717W FA8_HUMAN VAR_001131 G720D FA8_HUMAN VAR_001132 A723T FA8_HUMAN VAR_001133 V727F FA8_HUMAN VAR_001134 E739K FA8_HUMAN VAR_001135 E1057K FA8_HUMAN VAR_001138 Y1699C FA8_HUMAN VAR_001139 Y1699F FA8_HUMAN VAR_001140 R1708C FA8_HUMAN VAR_001141 R1708H FA8_HUMAN VAR_001142 R1715G FA8_HUMAN VAR_001143 E1723K FA8_HUMAN VAR_001144 Y1728C FA8_HUMAN VAR_001145 G1769R FA8_HUMAN VAR_001146 L1775V FA8_HUMAN VAR_001147 L1775F FA8_HUMAN VAR_001148 G1779E FA8_HUMAN VAR_001149 M1791T FA8_HUMAN VAR_001150 R1800H FA8_HUMAN VAR_001151 R1800C FA8_HUMAN VAR_001152 R1800G FA8_HUMAN VAR_001153 S1803Y FA8_HUMAN VAR_001154 L1808F FA8_HUMAN VAR_001155 M1842I FA8_HUMAN VAR_001156 P1844S FA8_HUMAN VAR_001157 T1845P FA8_HUMAN VAR_001158 A1853T FA8_HUMAN VAR_001159 A1853V FA8_HUMAN VAR_001160 D1865N FA8_HUMAN VAR_001161 D1865Y FA8_HUMAN VAR_001162 H1867R FA8_HUMAN VAR_001163 G1869V FA8_HUMAN VAR_001164 P1873R FA8_HUMAN VAR_001165 R1888I FA8_HUMAN VAR_001166 E1894G FA8_HUMAN VAR_001167 E1904K FA8_HUMAN VAR_001168 N1941D FA8_HUMAN VAR_001169 N1941S FA8_HUMAN VAR_001170 R1960Q FA8_HUMAN VAR_001171 R1960L FA8_HUMAN VAR_001172 G1967D FA8_HUMAN VAR_001173 G1979V FA8_HUMAN VAR_001174 H1980Y FA8_HUMAN VAR_001175 R2016W FA8_HUMAN VAR_001176 N2038S FA8_HUMAN VAR_001177 W2065R FA8_HUMAN VAR_001178 S2088F FA8_HUMAN VAR_001179 D2093G FA8_HUMAN VAR_001180 T2105N FA8_HUMAN VAR_001181 G2107S FA8_HUMAN VAR_001182 F2120L FA8_HUMAN VAR_001183 Y2124C FA8_HUMAN VAR_001184 R2135P FA8_HUMAN VAR_001185 S2138Y FA8_HUMAN VAR_001186 N2148S FA8_HUMAN VAR_001187 R2169H FA8_HUMAN VAR_001188 P2172Q FA8_HUMAN VAR_001189 T2173I FA8_HUMAN VAR_001190 R2178C FA8_HUMAN VAR_001191 R2178H FA8_HUMAN VAR_001192 R2178L FA8_HUMAN VAR_001193 R2182C FA8_HUMAN VAR_001194 R2182H FA8_HUMAN VAR_001195 M2183V FA8_HUMAN VAR_001196 L2185S FA8_HUMAN VAR_001197 I2204T FA8_HUMAN VAR_001198 I2209N FA8_HUMAN VAR_001199 A2211P FA8_HUMAN VAR_001201 R2228G FA8_HUMAN VAR_001202 R2228L FA8_HUMAN VAR_001203 R2228Q FA8_HUMAN VAR_001205 W2248C FA8_HUMAN VAR_001206 Q2265R FA8_HUMAN VAR_001207 P2319L FA8_HUMAN VAR_001208 P2319S FA8_HUMAN VAR_001209 R2323C FA8_HUMAN VAR_001210 R2323H FA8_HUMAN VAR_001211 R2326L FA8_HUMAN VAR_001212 R2326Q FA8_HUMAN VAR_008123 S202R FA8_HUMAN VAR_008967 D561Y FA8_HUMAN VAR_008968 G2344C FA8_HUMAN VAR_015127 G255V FA8_HUMAN VAR_015128 G323E FA8_HUMAN VAR_015129 M586V FA8_HUMAN VAR_015130 G1942A FA8_HUMAN VAR_015131 L1963P FA8_HUMAN VAR_015132 Y2036C FA8_HUMAN VAR_015133 P2172R FA8_HUMAN VAR_015134 D2307A FA8_HUMAN VAR_017330 E72K FA8_HUMAN VAR_017331 A97P FA8_HUMAN VAR_017332 Y155H FA8_HUMAN VAR_017333 V181E FA8_HUMAN VAR_017334 N254I FA8_HUMAN VAR_017335 G439S FA8_HUMAN VAR_017336 K529E FA8_HUMAN VAR_017337 I567T FA8_HUMAN VAR_017338 F1804S FA8_HUMAN VAR_017339 I2051S FA8_HUMAN VAR_017340 T2141N FA8_HUMAN VAR_017341 C2193G FA9_HUMAN VAR_006521 I17N FA9_HUMAN VAR_006522 C28R FA9_HUMAN VAR_006523 V30I FA9_HUMAN VAR_006524 R43Q FA9_HUMAN VAR_006525 R43L FA9_HUMAN VAR_006526 R43W FA9_HUMAN VAR_006527 K45N FA9_HUMAN VAR_006528 R46S FA9_HUMAN VAR_006529 R46T FA9_HUMAN VAR_006530 N48I FA9_HUMAN VAR_006531 S49P FA9_HUMAN VAR_006532 E53A FA9_HUMAN VAR_006533 E54G FA9_HUMAN VAR_006534 F55C FA9_HUMAN VAR_006535 G58A FA9_HUMAN VAR_006536 G58R FA9_HUMAN VAR_006538 E66V FA9_HUMAN VAR_006539 E67K FA9_HUMAN VAR_006540 F71S FA9_HUMAN VAR_006541 E73K FA9_HUMAN VAR_006542 E73V FA9_HUMAN VAR_006543 Y91C FA9_HUMAN VAR_006544 D93G FA9_HUMAN VAR_006545 Q96P FA9_HUMAN VAR_006546 C97S FA9_HUMAN VAR_006547 P101R FA9_HUMAN VAR_006548 C102R FA9_HUMAN VAR_006549 G106S FA9_HUMAN VAR_006550 C108S FA9_HUMAN VAR_006551 D110N FA9_HUMAN VAR_006552 I112S FA9_HUMAN VAR_006553 N113K FA9_HUMAN VAR_006554 Y115C FA9_HUMAN VAR_006555 C119F FA9_HUMAN VAR_006556 C119R FA9_HUMAN VAR_006557 G125E FA9_HUMAN VAR_006558 G125V FA9_HUMAN VAR_006560 I136T FA9_HUMAN VAR_006561 G139D FA9_HUMAN VAR_006562 G139S FA9_HUMAN VAR_006563 C155F FA9_HUMAN VAR_006564 G160E FA9_HUMAN VAR_006565 Q167H FA9_HUMAN VAR_006566 C178R FA9_HUMAN VAR_006567 C178W FA9_HUMAN VAR_006568 R191H FA9_HUMAN VAR_006569 R191C FA9_HUMAN VAR_006570 R226W FA9_HUMAN VAR_006571 R226G FA9_HUMAN VAR_006572 R226Q FA9_HUMAN VAR_006573 V227D FA9_HUMAN VAR_006574 V228L FA9_HUMAN VAR_006575 Q241H FA9_HUMAN VAR_006576 G253E FA9_HUMAN VAR_006577 G253R FA9_HUMAN VAR_006578 A265T FA9_HUMAN VAR_006579 A279T FA9_HUMAN VAR_006580 N283D FA9_HUMAN VAR_006582 R294G FA9_HUMAN VAR_006583 R294Q FA9_HUMAN VAR_006584 H302R FA9_HUMAN VAR_006585 I316F FA9_HUMAN VAR_006586 L321Q FA9_HUMAN VAR_006587 P333H FA9_HUMAN VAR_006588 T342K FA9_HUMAN VAR_006589 T342M FA9_HUMAN VAR_006590 G351D FA9_HUMAN VAR_006591 W356C FA9_HUMAN VAR_006592 G357E FA9_HUMAN VAR_006593 K362E FA9_HUMAN VAR_006594 G363W FA9_HUMAN VAR_006595 A366D FA9_HUMAN VAR_006596 R379G FA9_HUMAN VAR_006597 R379Q FA9_HUMAN VAR_006598 C382Y FA9_HUMAN VAR_006599 K387E FA9_HUMAN VAR_006600 I390F FA9_HUMAN VAR_006601 M394K FA9_HUMAN VAR_006602 C396S FA9_HUMAN VAR_006603 R404T FA9_HUMAN VAR_006604 C407S FA9_HUMAN VAR_006605 G413R FA9_HUMAN VAR_006606 V419E FA9_HUMAN VAR_006607 F424V FA9_HUMAN VAR_006608 T426P FA9_HUMAN VAR_006609 S430T FA9_HUMAN VAR_006610 W431G FA9_HUMAN VAR_006611 W431R FA9_HUMAN VAR_006612 G432S FA9_HUMAN VAR_006613 G432V FA9_HUMAN VAR_006614 E433A FA9_HUMAN VAR_006615 E433K FA9_HUMAN VAR_006616 A436V FA9_HUMAN VAR_006618 R449Q FA9_HUMAN VAR_006619 R449W FA9_HUMAN VAR_006620 Y450C FA9_HUMAN VAR_006621 I454T FA9_HUMAN VAR_017308 R75Q FA9_HUMAN VAR_017309 E79D FA9_HUMAN VAR_017310 V227F FA9_HUMAN VAR_017311 V228F FA9_HUMAN VAR_017312 C252S FA9_HUMAN VAR_017313 C268W FA9_HUMAN VAR_017314 E291V FA9_HUMAN VAR_017315 N306S FA9_HUMAN VAR_017316 G357R FA9_HUMAN VAR_017317 A397P FA9_HUMAN VAR_017318 D410H FA9_HUMAN VAR_017319 S411I FA9_HUMAN VAR_017320 S411G FA9_HUMAN VAR_017321 P414T FA9_HUMAN VAR_017322 G442R FA9_HUMAN VAR_017323 I443T FA9_HUMAN VAR_017324 W453R FA9_HUMAN VAR_017343 C28Y FA9_HUMAN VAR_017344 L52S FA9_HUMAN VAR_017345 T84R FA9_HUMAN VAR_017346 G106D FA9_HUMAN VAR_017347 E124K FA9_HUMAN VAR_017348 G125R FA9_HUMAN VAR_017349 C134Y FA9_HUMAN VAR_017350 S169C FA9_HUMAN VAR_017351 C170F FA9_HUMAN VAR_017352 Q241K FA9_HUMAN VAR_017353 C252Y FA9_HUMAN VAR_017354 L318R FA9_HUMAN VAR_017355 P333T FA9_HUMAN VAR_017356 I344L FA9_HUMAN VAR_017357 L383I FA9_HUMAN VAR_017358 L383F FA9_HUMAN VAR_017359 F395I FA9_HUMAN VAR_017360 F395L FA9_HUMAN VAR_017361 C396F FA9_HUMAN VAR_017362 C407R FA9_HUMAN VAR_017363 G412E FA9_HUMAN VAR_017364 C435Y FA9_HUMAN VAR_017365 G442E FAAA_HUMAN VAR_005205 N16I FAAA_HUMAN VAR_005206 F62C FAAA_HUMAN VAR_005207 Q64H FAAA_HUMAN VAR_005208 A134D FAAA_HUMAN VAR_005209 G158D FAAA_HUMAN VAR_005210 V166G FAAA_HUMAN VAR_005211 C193R FAAA_HUMAN VAR_005212 G207D FAAA_HUMAN VAR_005213 D233V FAAA_HUMAN VAR_005214 W234G FAAA_HUMAN VAR_005215 P249T FAAA_HUMAN VAR_005216 P261L FAAA_HUMAN VAR_005217 T294P FAAA_HUMAN VAR_005218 G337S FAAA_HUMAN VAR_005220 P342L FAAA_HUMAN VAR_005222 G369V FAAA_HUMAN VAR_005223 R381G FAAA_HUMAN VAR_005224 F405H FACD2_HUMAN VAR_022559 S126G FACD2_HUMAN VAR_022560 R302W FACD2_HUMAN VAR_022562 R1236H FACE1_HUMAN VAR_019308 W340R FANCA_HUMAN VAR_009638 N8K FANCA_HUMAN VAR_009639 A181V FANCA_HUMAN VAR_009640 L244F FANCA_HUMAN VAR_009641 D252G FANCA_HUMAN VAR_009642 R435C FANCA_HUMAN VAR_009643 H492R FANCA_HUMAN VAR_009647 L817P FANCA_HUMAN VAR_009648 L845P FANCA_HUMAN VAR_009649 R1055L FANCA_HUMAN VAR_009650 H1110P FANCA_HUMAN VAR_009651 R1117G FANCA_HUMAN VAR_009652 Q1128E FANCA_HUMAN VAR_009653 T1131A FANCA_HUMAN VAR_009656 W1302R FANCA_HUMAN VAR_009658 H1417D FANCA_HUMAN VAR_017497 D598N FANCA_HUMAN VAR_017498 S858R FANCA_HUMAN VAR_017499 R1055W FANCA_HUMAN VAR_017500 L1082P FANCA_HUMAN VAR_017501 S1088F FANCA_HUMAN VAR_017502 F1262L FANCA_HUMAN VAR_017503 D1359Y FANCA_HUMAN VAR_017504 M1360I FANCA_HUMAN VAR_017505 P1324L FANCC_HUMAN VAR_005232 L496R FANCC_HUMAN VAR_005233 L554P FANCG_HUMAN VAR_017495 L71P FBLN3_HUMAN VAR_009513 R345W FBLN5_HUMAN VAR_017153 S227P FBLN5_HUMAN VAR_019814 V60L FBLN5_HUMAN VAR_019815 R71Q FBLN5_HUMAN VAR_019816 P87S FBLN5_HUMAN VAR_019817 I169T FBLN5_HUMAN VAR_019818 R351W FBLN5_HUMAN VAR_019819 A363T FBLN5_HUMAN VAR_019820 G412E FBN1_HUMAN VAR_002276 C111R FBN1_HUMAN VAR_002277 R122C FBN1_HUMAN VAR_002278 C129Y FBN1_HUMAN VAR_002279 C166F FBN1_HUMAN VAR_002280 C166S FBN1_HUMAN VAR_002281 W217G FBN1_HUMAN VAR_002282 C476G FBN1_HUMAN VAR_002283 D490Y FBN1_HUMAN VAR_002284 R545C FBN1_HUMAN VAR_002285 N548I FBN1_HUMAN VAR_002286 C587Y FBN1_HUMAN VAR_002287 R627C FBN1_HUMAN VAR_002288 C661R FBN1_HUMAN VAR_002289 A705T FBN1_HUMAN VAR_002290 C711Y FBN1_HUMAN VAR_002291 D723A FBN1_HUMAN VAR_002292 Y746C FBN1_HUMAN VAR_002293 C750G FBN1_HUMAN VAR_002294 C862R FBN1_HUMAN VAR_002295 C926R FBN1_HUMAN VAR_002296 V984I FBN1_HUMAN VAR_002297 C996R FBN1_HUMAN VAR_002298 G1013R FBN1_HUMAN VAR_002299 K1023N FBN1_HUMAN VAR_002300 K1043R FBN1_HUMAN VAR_002301 I1048T FBN1_HUMAN VAR_002303 C1053R FBN1_HUMAN VAR_002304 C1055G FBN1_HUMAN VAR_002306 D1072G FBN1_HUMAN VAR_002307 E1073K FBN1_HUMAN VAR_002308 C1074R FBN1_HUMAN VAR_002309 C1086W FBN1_HUMAN VAR_002310 C1117G FBN1_HUMAN VAR_002311 C1117Y FBN1_HUMAN VAR_002313 N1131Y FBN1_HUMAN VAR_002314 R1137P FBN1_HUMAN VAR_002316 C1153Y FBN1_HUMAN VAR_002317 D1155N FBN1_HUMAN VAR_002318 R1170H FBN1_HUMAN VAR_002319 C1171W FBN1_HUMAN VAR_002320 N1173K FBN1_HUMAN VAR_002321 C1223Y FBN1_HUMAN VAR_002322 C1242Y FBN1_HUMAN VAR_002323 C1249S FBN1_HUMAN VAR_002324 N1382S FBN1_HUMAN VAR_002325 D1404Y FBN1_HUMAN VAR_002326 C1513R FBN1_HUMAN VAR_002327 C1589F FBN1_HUMAN VAR_002328 C1610G FBN1_HUMAN VAR_002329 C1663R FBN1_HUMAN VAR_002330 P1837S FBN1_HUMAN VAR_002331 N1893K FBN1_HUMAN VAR_002332 C1928R FBN1_HUMAN VAR_002333 C2099W FBN1_HUMAN VAR_002334 C2111Y FBN1_HUMAN VAR_002335 D2127E FBN1_HUMAN VAR_002336 N2144S FBN1_HUMAN VAR_002337 C2151W FBN1_HUMAN VAR_002338 C2221S FBN1_HUMAN VAR_002339 C2258R FBN1_HUMAN VAR_002340 R2282W FBN1_HUMAN VAR_002341 C2307S FBN1_HUMAN VAR_002342 E2447K FBN1_HUMAN VAR_002343 C2489R FBN1_HUMAN VAR_002344 C2511R FBN1_HUMAN VAR_002345 H2623P FBN1_HUMAN VAR_002346 G2627R FBN1_HUMAN VAR_002347 R2680C FBN1_HUMAN VAR_002348 R2726W FBN1_HUMAN VAR_010776 C504F FBN1_HUMAN VAR_010777 C1129Y FBN1_HUMAN VAR_010778 Y1261C FBN1_HUMAN VAR_010779 C1833S FBN1_HUMAN VAR_010780 C2142Y FBN1_HUMAN VAR_017967 R62C FBN1_HUMAN VAR_017968 C89F FBN1_HUMAN VAR_017969 R114C FBN1_HUMAN VAR_017970 S115C FBN1_HUMAN VAR_017971 C154S FBN1_HUMAN VAR_017972 R240C FBN1_HUMAN VAR_017973 W366C FBN1_HUMAN VAR_017974 G560S FBN1_HUMAN VAR_017975 C570Y FBN1_HUMAN VAR_017976 G592D FBN1_HUMAN VAR_017977 C596Y FBN1_HUMAN VAR_017978 C598W FBN1_HUMAN VAR_017979 C652S FBN1_HUMAN VAR_017980 D654N FBN1_HUMAN VAR_017981 C661Y FBN1_HUMAN VAR_017982 S681Y FBN1_HUMAN VAR_017983 C683R FBN1_HUMAN VAR_017984 C685W FBN1_HUMAN VAR_017985 D723V FBN1_HUMAN VAR_017986 C734F FBN1_HUMAN VAR_017987 C748Y FBN1_HUMAN VAR_017988 C776G FBN1_HUMAN VAR_017989 C776Y FBN1_HUMAN VAR_017990 C781R FBN1_HUMAN VAR_017991 C816S FBN1_HUMAN VAR_017992 C890R FBN1_HUMAN VAR_017993 C908R FBN1_HUMAN VAR_017994 E913G FBN1_HUMAN VAR_017995 C921G FBN1_HUMAN VAR_017996 G985R FBN1_HUMAN VAR_017997 C1044Y FBN1_HUMAN VAR_017998 C1055W FBN1_HUMAN VAR_017999 C1055Y FBN1_HUMAN VAR_018000 Y1101C FBN1_HUMAN VAR_018002 E1200G FBN1_HUMAN VAR_018003 E1325Q FBN1_HUMAN VAR_018004 A1337P FBN1_HUMAN VAR_018005 C1339Y FBN1_HUMAN VAR_018006 E1366K FBN1_HUMAN VAR_018007 C1374S FBN1_HUMAN VAR_018008 C1389R FBN1_HUMAN VAR_018010 P1424A FBN1_HUMAN VAR_018011 C1429S FBN1_HUMAN VAR_018012 R1530C FBN1_HUMAN VAR_018013 C1564Y FBN1_HUMAN VAR_018015 C1770F FBN1_HUMAN VAR_018016 R1790P FBN1_HUMAN VAR_018017 C1791Y FBN1_HUMAN VAR_018018 C1793W FBN1_HUMAN VAR_018019 G1796E FBN1_HUMAN VAR_018020 C1806S FBN1_HUMAN VAR_018021 C1835Y FBN1_HUMAN VAR_018022 I1909T FBN1_HUMAN VAR_018023 R1915S FBN1_HUMAN VAR_018025 C1971Y FBN1_HUMAN VAR_018026 C1977Y FBN1_HUMAN VAR_018027 C1998Y FBN1_HUMAN VAR_018029 C2111R FBN1_HUMAN VAR_018030 P2154R FBN1_HUMAN VAR_018031 C2221G FBN1_HUMAN VAR_018032 N2223H FBN1_HUMAN VAR_018033 I2269T FBN1_HUMAN VAR_018034 R2335W FBN1_HUMAN VAR_018035 C2339Y FBN1_HUMAN VAR_018036 C2406Y FBN1_HUMAN VAR_018037 C2442W FBN1_HUMAN VAR_018038 Y2474C FBN1_HUMAN VAR_018039 C2581F FBN1_HUMAN VAR_018040 I2585T FBN1_HUMAN VAR_018041 G2618R FBN1_HUMAN VAR_018042 N2624K FBN1_HUMAN VAR_018043 C2652G FBN1_HUMAN VAR_018044 G2668C FBN1_HUMAN VAR_018319 G985E FBN1_HUMAN VAR_018320 C1265R FBN2_HUMAN VAR_002350 C1252Y FBN2_HUMAN VAR_002351 C1433S FBN2_HUMAN VAR_010739 D1114H FBN2_HUMAN VAR_010740 C1141F FBN2_HUMAN VAR_010741 C1252W FBN2_HUMAN VAR_015851 E390K FCMD_HUMAN VAR_018278 C250G FGD1_HUMAN VAR_015236 R522H FGD1_HUMAN VAR_015237 R610Q FGD1_HUMAN VAR_019268 S205I FGD1_HUMAN VAR_019269 P312L FGD1_HUMAN VAR_019270 E380A FGD1_HUMAN VAR_019271 R443H FGF14_HUMAN VAR_022736 F145S FGF23_HUMAN VAR_010717 R176Q FGF23_HUMAN VAR_010718 R179W FGF23_HUMAN VAR_010719 R179Q FGFR1_HUMAN VAR_004111 P252R FGFR1_HUMAN VAR_017885 G97D FGFR1_HUMAN VAR_017886 Y99C FGFR1_HUMAN VAR_017887 A167S FGFR1_HUMAN VAR_017888 C277Y FGFR1_HUMAN VAR_017889 V607M FGFR1_HUMAN VAR_017890 W666R FGFR1_HUMAN VAR_017891 M719R FGFR1_HUMAN VAR_017892 P772S FGFR2_HUMAN VAR_004112 Y105C FGFR2_HUMAN VAR_004113 S252L FGFR2_HUMAN VAR_004114 S252F FGFR2_HUMAN VAR_004115 S252W FGFR2_HUMAN VAR_004117 P253R FGFR2_HUMAN VAR_004118 S267P FGFR2_HUMAN VAR_004120 F276V FGFR2_HUMAN VAR_004121 C278F FGFR2_HUMAN VAR_004123 Q289P FGFR2_HUMAN VAR_004124 W290C FGFR2_HUMAN VAR_004125 W290R FGFR2_HUMAN VAR_004126 K292E FGFR2_HUMAN VAR_004127 Y301C FGFR2_HUMAN VAR_004129 D321A FGFR2_HUMAN VAR_004130 Y328C FGFR2_HUMAN VAR_004131 N331I FGFR2_HUMAN VAR_004133 G338E FGFR2_HUMAN VAR_004134 Y340H FGFR2_HUMAN VAR_004135 T341P FGFR2_HUMAN VAR_004136 C342F FGFR2_HUMAN VAR_004137 C342R FGFR2_HUMAN VAR_004138 C342S FGFR2_HUMAN VAR_004139 C342Y FGFR2_HUMAN VAR_004140 A344G FGFR2_HUMAN VAR_004141 A344P FGFR2_HUMAN VAR_004142 S347C FGFR2_HUMAN VAR_004143 S351C FGFR2_HUMAN VAR_004144 S354C FGFR2_HUMAN VAR_004146 V359F FGFR2_HUMAN VAR_004147 G384R FGFR2_HUMAN VAR_015011 G338R FGFR2_HUMAN VAR_017259 A172F FGFR2_HUMAN VAR_017261 P263L FGFR2_HUMAN VAR_017263 C278Y FGFR2_HUMAN VAR_017264 Y281C FGFR2_HUMAN VAR_017265 I288S FGFR2_HUMAN VAR_017266 W290G FGFR2_HUMAN VAR_017268 A337P FGFR2_HUMAN VAR_017269 Y340C FGFR2_HUMAN VAR_017270 C342G FGFR2_HUMAN VAR_017271 C342W FGFR2_HUMAN VAR_017272 S354Y FGFR2_HUMAN VAR_017273 A362S FGFR2_HUMAN VAR_017274 S372C FGFR2_HUMAN VAR_017275 Y375C FGFR2_HUMAN VAR_017276 N549H FGFR2_HUMAN VAR_017277 E565G FGFR2_HUMAN VAR_017278 K641R FGFR2_HUMAN VAR_017280 G663E FGFR2_HUMAN VAR_017281 R678G FGFR3_HUMAN VAR_004152 S371C FGFR3_HUMAN VAR_004153 Y373C FGFR3_HUMAN VAR_004154 G375C FGFR3_HUMAN VAR_004155 G380R FGFR3_HUMAN VAR_004157 I538V FGFR3_HUMAN VAR_004158 N540K FGFR3_HUMAN VAR_004159 N540T FGFR3_HUMAN VAR_004161 K650M FGFR3_HUMAN VAR_018389 N540S FIBA_HUMAN VAR_010731 E545V FIBA_HUMAN VAR_010732 R573L FIBB_HUMAN VAR_016908 R196C FIBB_HUMAN VAR_016909 L383R FIBB_HUMAN VAR_016910 G430D FKRP_HUMAN VAR_018280 A114G FKRP_HUMAN VAR_018282 R143S FKRP_HUMAN VAR_018283 P217T FKRP_HUMAN VAR_018284 S221R FKRP_HUMAN VAR_018285 L276I FKRP_HUMAN VAR_018286 Y309C FKRP_HUMAN VAR_018287 R312C FKRP_HUMAN VAR_018288 P315T FKRP_HUMAN VAR_018289 P316R FKRP_HUMAN VAR_018290 Y328S FKRP_HUMAN VAR_018291 R339L FKRP_HUMAN VAR_018292 R339H FKRP_HUMAN VAR_018293 D401N FKRP_HUMAN VAR_018294 P448L FKRP_HUMAN VAR_018295 Y465S FKRP_HUMAN VAR_019272 R54W FKRP_HUMAN VAR_022850 Y307N FKRP_HUMAN VAR_022851 P316S FKRP_HUMAN VAR_022852 C318Y FKRP_HUMAN VAR_022853 D360N FKRP_HUMAN VAR_022854 V405L FKRP_HUMAN VAR_022855 A455D FKRP_HUMAN VAR_022856 P462S FLNA_HUMAN VAR_012834 L656F FLNA_HUMAN VAR_012835 A1764T FLNA_HUMAN VAR_015699 E82V FLNA_HUMAN VAR_015700 P207L FLNA_HUMAN VAR_015701 E254K FLNA_HUMAN VAR_015702 D1159A FLNA_HUMAN VAR_015703 A1188T FLNA_HUMAN VAR_015704 S1199L FLNA_HUMAN VAR_015713 Q170P FLNA_HUMAN VAR_015714 L172F FLNA_HUMAN VAR_015715 R196G FLNA_HUMAN VAR_015716 R196W FLNA_HUMAN VAR_015717 A200S FLNA_HUMAN VAR_015718 A273P FLNA_HUMAN VAR_015719 T555K FLNA_HUMAN VAR_015720 D1184E FLNA_HUMAN VAR_015721 S1186L FLNA_HUMAN VAR_015723 C1645F FLNA_HUMAN VAR_022734 A39G FMO3_HUMAN VAR_002423 M65I FMO3_HUMAN VAR_002424 P152L FMO3_HUMAN VAR_008145 R491W FMO3_HUMAN VAR_008146 A51T FMO3_HUMAN VAR_008147 R386L FMR1_HUMAN VAR_005234 I304N FOG2_HUMAN VAR_017942 E30G FOG2_HUMAN VAR_017943 S657G FOXC1_HUMAN VAR_007815 F112S FOXC1_HUMAN VAR_007816 I126M FOXC1_HUMAN VAR_007817 S131L FOXC1_HUMAN VAR_007944 S82T FOXC1_HUMAN VAR_007945 I87M FOXC2_HUMAN VAR_018418 S125L FOXE1_HUMAN VAR_008857 A65V FOXE1_HUMAN VAR_016882 S57N FOXL2_HUMAN VAR_016883 I84S FOXL2_HUMAN VAR_016885 L106F FOXL2_HUMAN VAR_016886 N109K FOXL2_HUMAN VAR_016887 S217F FOXL2_HUMAN VAR_021196 S58L FOXL2_HUMAN VAR_021197 A66V FOXL2_HUMAN VAR_021198 E69K FOXL2_HUMAN VAR_021199 H104R FOXL2_HUMAN VAR_021200 N105S FOXL2_HUMAN VAR_021202 K193R FOXL2_HUMAN VAR_021203 Y215C FOXL2_HUMAN VAR_021204 Y258N FOXP2_HUMAN VAR_012278 R553H FOXP3_HUMAN VAR_011331 F371C FOXP3_HUMAN VAR_011332 A384T FOXP3_HUMAN VAR_011333 R397W FOXP3_HUMAN VAR_023569 I363V FRDA_HUMAN VAR_002428 D122Y FRDA_HUMAN VAR_002429 G130V FRDA_HUMAN VAR_002430 I154F FRDA_HUMAN VAR_002431 W155R FRDA_HUMAN VAR_008139 R165C FRDA_HUMAN VAR_008140 L182F FRDA_HUMAN VAR_016065 L106S FRDA_HUMAN VAR_016066 L198R FREM2_HUMAN VAR_023201 E1972K FSHR_HUMAN VAR_017244 T449I FSHR_HUMAN VAR_017245 D567N FSHR_HUMAN VAR_018045 I160T FSHR_HUMAN VAR_018046 A189V FSHR_HUMAN VAR_018047 I418T FSHR_HUMAN VAR_018048 R573C FTCD_HUMAN VAR_015887 R135C FTCD_HUMAN VAR_015888 R299P FUCO_HUMAN VAR_002442 G60D FUCO_HUMAN VAR_002443 S63L FUCO_HUMAN VAR_016235 L405R FUCT1_HUMAN VAR_012347 R147C FUCT1_HUMAN VAR_012348 T308R FUMH_HUMAN VAR_002446 A308T FUMH_HUMAN VAR_002447 F312C FUMH_HUMAN VAR_002448 D425V G6PD_HUMAN VAR_002475 R197P G6PD_HUMAN VAR_002498 R386C G6PD_HUMAN VAR_002500 V393L G6PD_HUMAN VAR_002504 G409D G6PD_HUMAN VAR_002506 R438P G6PI_HUMAN VAR_002516 T4I G6PI_HUMAN VAR_002517 H19P G6PI_HUMAN VAR_002518 R74G G6PI_HUMAN VAR_002519 R82W G6PI_HUMAN VAR_002520 G158S G6PI_HUMAN VAR_002521 V100M G6PI_HUMAN VAR_002522 T194I G6PI_HUMAN VAR_002523 T223M G6PI_HUMAN VAR_002524 R272H G6PI_HUMAN VAR_002525 S277L G6PI_HUMAN VAR_002526 A299P G6PI_HUMAN VAR_002527 L338P G6PI_HUMAN VAR_002528 Q342R G6PI_HUMAN VAR_002529 R346C G6PI_HUMAN VAR_002530 R346H G6PI_HUMAN VAR_002531 T374R G6PI_HUMAN VAR_002532 H388R G6PI_HUMAN VAR_002533 R471H G6PI_HUMAN VAR_002534 L486F G6PI_HUMAN VAR_002535 E494K G6PI_HUMAN VAR_002536 L516V G6PI_HUMAN VAR_002537 I524T G6PI_HUMAN VAR_002538 D538N G6PT1_HUMAN VAR_003184 G149E G6PT1_HUMAN VAR_003185 G339C G6PT1_HUMAN VAR_007850 W118R G6PT1_HUMAN VAR_016840 R28H G6PT_HUMAN VAR_005237 D38V G6PT_HUMAN VAR_005238 W77R G6PT_HUMAN VAR_005241 R83I G6PT_HUMAN VAR_005242 E110K G6PT_HUMAN VAR_005243 A124T G6PT_HUMAN VAR_005244 V166G G6PT_HUMAN VAR_005245 G184E G6PT_HUMAN VAR_005246 G188R G6PT_HUMAN VAR_005247 L211P G6PT_HUMAN VAR_005248 G222R G6PT_HUMAN VAR_005249 G266V G6PT_HUMAN VAR_005250 G270V G6PT_HUMAN VAR_005251 R295C G6PT_HUMAN VAR_005253 V338F G6PT_HUMAN VAR_005254 I341N G6PT_HUMAN VAR_009202 Q20R G6PT_HUMAN VAR_009203 Q54P G6PT_HUMAN VAR_009204 G81R G6PT_HUMAN VAR_009205 T108I G6PT_HUMAN VAR_009206 W156L G6PT_HUMAN VAR_009207 G188D GA6S_HUMAN VAR_007172 G47R GA6S_HUMAN VAR_007173 D60N GA6S_HUMAN VAR_007175 P77R GA6S_HUMAN VAR_007177 S80L GA6S_HUMAN VAR_007178 R90W GA6S_HUMAN VAR_007179 R94C GA6S_HUMAN VAR_007180 R94G GA6S_HUMAN VAR_007181 G96C GA6S_HUMAN VAR_007182 G96V GA6S_HUMAN VAR_007183 F97V GA6S_HUMAN VAR_007184 Q111R GA6S_HUMAN VAR_007185 I113F GA6S_HUMAN VAR_007186 P125L GA6S_HUMAN VAR_007187 S135R GA6S_HUMAN VAR_007188 V138A GA6S_HUMAN VAR_007189 G139S GA6S_HUMAN VAR_007190 W141R GA6S_HUMAN VAR_007191 P151L GA6S_HUMAN VAR_007192 P151S GA6S_HUMAN VAR_007193 G155R GA6S_HUMAN VAR_007194 F156C GA6S_HUMAN VAR_007195 F156S GA6S_HUMAN VAR_007196 H166Q GA6S_HUMAN VAR_007197 G168R GA6S_HUMAN VAR_007199 P179H GA6S_HUMAN VAR_007200 P179L GA6S_HUMAN VAR_007201 E185G GA6S_HUMAN VAR_007203 N204K GA6S_HUMAN VAR_007204 W230G GA6S_HUMAN VAR_007206 G247D GA6S_HUMAN VAR_007207 A257T GA6S_HUMAN VAR_007208 R259Q GA6S_HUMAN VAR_007210 F284V GA6S_HUMAN VAR_007211 S287L GA6S_HUMAN VAR_007212 G290S GA6S_HUMAN VAR_007213 A291D GA6S_HUMAN VAR_007214 A291T GA6S_HUMAN VAR_007215 S295F GA6S_HUMAN VAR_007216 G301C GA6S_HUMAN VAR_007217 G309R GA6S_HUMAN VAR_007218 T312S GA6S_HUMAN VAR_007219 M318R GA6S_HUMAN VAR_007221 M343R GA6S_HUMAN VAR_007222 D344E GA6S_HUMAN VAR_007223 D344N GA6S_HUMAN VAR_007224 F346L GA6S_HUMAN VAR_007225 A351V GA6S_HUMAN VAR_007226 R361G GA6S_HUMAN VAR_007227 R376Q GA6S_HUMAN VAR_007228 R386C GA6S_HUMAN VAR_007229 M391V GA6S_HUMAN VAR_007231 L395P GA6S_HUMAN VAR_007232 L395V GA6S_HUMAN VAR_007233 N407H GA6S_HUMAN VAR_007234 W409S GA6S_HUMAN VAR_007235 E450V GA6S_HUMAN VAR_007237 N487S GA6S_HUMAN VAR_007239 M494V GABT_HUMAN VAR_008883 R220K GALC_HUMAN VAR_003380 G95D GALC_HUMAN VAR_003381 G95S GALC_HUMAN VAR_003382 T96A GALC_HUMAN VAR_003383 M101L GALC_HUMAN VAR_003384 D171V GALC_HUMAN VAR_003385 G178A GALC_HUMAN VAR_003387 I234T GALC_HUMAN VAR_003388 A247T GALC_HUMAN VAR_003389 G268S GALC_HUMAN VAR_003390 G270D GALC_HUMAN VAR_003391 N279T GALC_HUMAN VAR_003392 S287F GALC_HUMAN VAR_003393 P302A GALC_HUMAN VAR_003394 R380W GALC_HUMAN VAR_003395 P384L GALC_HUMAN VAR_003396 T452S GALC_HUMAN VAR_003397 F498S GALC_HUMAN VAR_003398 T513M GALC_HUMAN VAR_003399 R515C GALC_HUMAN VAR_003400 D528N GALC_HUMAN VAR_003402 V550G GALC_HUMAN VAR_003403 Y551S GALC_HUMAN VAR_003404 A576S GALC_HUMAN VAR_003405 I583S GALC_HUMAN VAR_003407 L629R GALC_HUMAN VAR_013956 G43R GALC_HUMAN VAR_013957 S52F GALC_HUMAN VAR_013958 R63H GALC_HUMAN VAR_013959 I66M GALC_HUMAN VAR_013961 T262I GALC_HUMAN VAR_013963 Y298C GALC_HUMAN VAR_013964 Y319C GALC_HUMAN VAR_013965 W410G GALC_HUMAN VAR_013966 R515H GALC_HUMAN VAR_013967 G537R GALC_HUMAN VAR_013968 L618S GALC_HUMAN VAR_013969 T652R GALE_HUMAN VAR_002539 N34S GALE_HUMAN VAR_002540 G90E GALE_HUMAN VAR_002541 D103G GALE_HUMAN VAR_002543 L183P GALE_HUMAN VAR_002544 K257R GALE_HUMAN VAR_002545 L313M GALE_HUMAN VAR_002546 G319E GALE_HUMAN VAR_010058 V94M GALK1_HUMAN VAR_002547 V32M GALK1_HUMAN VAR_008514 P28T GALK1_HUMAN VAR_015746 A198V GALK1_HUMAN VAR_023486 G36R GALK1_HUMAN VAR_023487 H44Y GALK1_HUMAN VAR_023488 R68C GALK1_HUMAN VAR_023490 R239Q GALK1_HUMAN VAR_023492 T288M GALK1_HUMAN VAR_023494 G346S GALK1_HUMAN VAR_023495 G349S GALK1_HUMAN VAR_023496 A384P GALT_HUMAN VAR_002548 D28Y GALT_HUMAN VAR_002549 I32N GALT_HUMAN VAR_002550 Q38P GALT_HUMAN VAR_002551 V44L GALT_HUMAN VAR_002552 V44M GALT_HUMAN VAR_002553 R51L GALT_HUMAN VAR_002554 G55C GALT_HUMAN VAR_002556 R67C GALT_HUMAN VAR_002557 L74P GALT_HUMAN VAR_002558 A81T GALT_HUMAN VAR_002559 N97S GALT_HUMAN VAR_002560 D98N GALT_HUMAN VAR_002561 D113N GALT_HUMAN VAR_002562 H114L GALT_HUMAN VAR_002563 F117S GALT_HUMAN VAR_002564 Q118H GALT_HUMAN VAR_002565 R123G GALT_HUMAN VAR_002566 R123Q GALT_HUMAN VAR_002567 V125A GALT_HUMAN VAR_002568 K127E GALT_HUMAN VAR_002569 C130Y GALT_HUMAN VAR_002570 H132Y GALT_HUMAN VAR_002571 S135L GALT_HUMAN VAR_002572 T138M GALT_HUMAN VAR_002573 L139P GALT_HUMAN VAR_002574 M142K GALT_HUMAN VAR_002575 M142V GALT_HUMAN VAR_002576 S143L GALT_HUMAN VAR_002577 R148G GALT_HUMAN VAR_002578 R148Q GALT_HUMAN VAR_002579 R148W GALT_HUMAN VAR_002580 V150L GALT_HUMAN VAR_002581 V151A GALT_HUMAN VAR_002582 W154G GALT_HUMAN VAR_002583 F171S GALT_HUMAN VAR_002584 G179D GALT_HUMAN VAR_002585 P183T GALT_HUMAN VAR_002586 H184Q GALT_HUMAN VAR_002587 Q188R GALT_HUMAN VAR_002588 S192N GALT_HUMAN VAR_002589 F194L GALT_HUMAN VAR_002590 L195P GALT_HUMAN VAR_002591 I198M GALT_HUMAN VAR_002592 I198T GALT_HUMAN VAR_002593 A199T GALT_HUMAN VAR_002594 R201H GALT_HUMAN VAR_002595 E203K GALT_HUMAN VAR_002596 Y209C GALT_HUMAN VAR_002597 Y209S GALT_HUMAN VAR_002598 Q212H GALT_HUMAN VAR_002599 L217P GALT_HUMAN VAR_002600 L226P GALT_HUMAN VAR_002601 R231H GALT_HUMAN VAR_002602 W249R GALT_HUMAN VAR_002603 Y251C GALT_HUMAN VAR_002604 Y251S GALT_HUMAN VAR_002605 R258C GALT_HUMAN VAR_002606 R259W GALT_HUMAN VAR_002607 R262P GALT_HUMAN VAR_002608 L282V GALT_HUMAN VAR_002609 K285N GALT_HUMAN VAR_002610 L289R GALT_HUMAN VAR_002611 E291K GALT_HUMAN VAR_002612 E308K GALT_HUMAN VAR_002614 Q317H GALT_HUMAN VAR_002615 Q317R GALT_HUMAN VAR_002616 H319Q GALT_HUMAN VAR_002617 A320T GALT_HUMAN VAR_002618 Y323D GALT_HUMAN VAR_002619 Y323H GALT_HUMAN VAR_002620 P324S GALT_HUMAN VAR_002621 P325L GALT_HUMAN VAR_002622 R328H GALT_HUMAN VAR_002623 S329F GALT_HUMAN VAR_002624 A330V GALT_HUMAN VAR_002625 R333G GALT_HUMAN VAR_002626 R333Q GALT_HUMAN VAR_002627 R333W GALT_HUMAN VAR_002628 K334R GALT_HUMAN VAR_002629 M336L GALT_HUMAN VAR_002630 Q344K GALT_HUMAN VAR_002631 T350A GALT_HUMAN VAR_008042 S45L GALT_HUMAN VAR_008043 M129T GALT_HUMAN VAR_008044 W167R GALT_HUMAN VAR_008045 R204P GALT_HUMAN VAR_008047 R272G GALT_HUMAN VAR_008048 F294Y GALT_HUMAN VAR_023328 R51Q GALT_HUMAN VAR_023329 S135W GALT_HUMAN VAR_023330 K229N GALT_HUMAN VAR_023331 Q252H GAN_HUMAN VAR_010757 E486K GAN_HUMAN VAR_010759 R15S GAN_HUMAN VAR_010760 S52G GAN_HUMAN VAR_010761 S79L GAN_HUMAN VAR_010762 V82F GAN_HUMAN VAR_010763 R138H GAN_HUMAN VAR_010764 R269Q GAN_HUMAN VAR_010765 L309R GAN_HUMAN VAR_010766 R545C GAN_HUMAN VAR_010767 C570Y GAN_HUMAN VAR_015560 I423T GAN_HUMAN VAR_015680 I86F GAN_HUMAN VAR_015681 G368R GATA1_HUMAN VAR_010115 V205M GATA1_HUMAN VAR_012706 G208S GATA1_HUMAN VAR_012707 D218G GATA3_HUMAN VAR_017818 W274R GATA4_HUMAN VAR_016204 G296S GBRA1_HUMAN VAR_013642 A322D GBRG2_HUMAN VAR_014265 R82Q GBRG2_HUMAN VAR_014266 K328M GCDH_HUMAN VAR_000366 R88C GCDH_HUMAN VAR_000367 R94L GCDH_HUMAN VAR_000368 G101R GCDH_HUMAN VAR_000369 C115Y GCDH_HUMAN VAR_000370 A122V GCDH_HUMAN VAR_000371 R128G GCDH_HUMAN VAR_000372 R138G GCDH_HUMAN VAR_000373 S139L GCDH_HUMAN VAR_000374 V148I GCDH_HUMAN VAR_000375 R161Q GCDH_HUMAN VAR_000376 G178R GCDH_HUMAN VAR_000377 L179R GCDH_HUMAN VAR_000378 M191T GCDH_HUMAN VAR_000379 A195T GCDH_HUMAN VAR_000380 R227P GCDH_HUMAN VAR_000381 F236L GCDH_HUMAN VAR_000382 R257Q GCDH_HUMAN VAR_000383 R257W GCDH_HUMAN VAR_000384 M266V GCDH_HUMAN VAR_000385 P278S GCDH_HUMAN VAR_000386 L283P GCDH_HUMAN VAR_000387 A293T GCDH_HUMAN VAR_000388 R294W GCDH_HUMAN VAR_000389 Y295H GCDH_HUMAN VAR_000392 S305L GCDH_HUMAN VAR_000393 C308S GCDH_HUMAN VAR_000394 L309W GCDH_HUMAN VAR_000395 R313W GCDH_HUMAN VAR_000396 Q333E GCDH_HUMAN VAR_000397 A349T GCDH_HUMAN VAR_000398 G354R GCDH_HUMAN VAR_000399 G354S GCDH_HUMAN VAR_000400 R355C GCDH_HUMAN VAR_000401 R355H GCDH_HUMAN VAR_000402 E365K GCDH_HUMAN VAR_000403 C375R GCDH_HUMAN VAR_000404 A382T GCDH_HUMAN VAR_000405 R383C GCDH_HUMAN VAR_000406 R383H GCDH_HUMAN VAR_000407 R386Q GCDH_HUMAN VAR_000408 G390R GCDH_HUMAN VAR_000409 G390A GCDH_HUMAN VAR_000410 N392D GCDH_HUMAN VAR_000411 V400M GCDH_HUMAN VAR_000412 R402W GCDH_HUMAN VAR_000413 R402Q GCDH_HUMAN VAR_000414 H403R GCDH_HUMAN VAR_000415 N406K GCDH_HUMAN VAR_000416 L407P GCDH_HUMAN VAR_000417 E414K GCDH_HUMAN VAR_000418 T416I GCDH_HUMAN VAR_000419 A421T GCDH_HUMAN VAR_000420 A421V GCDH_HUMAN VAR_000421 T429M GCDH_HUMAN VAR_000422 A433E GCH1_HUMAN VAR_002633 P23L GCH1_HUMAN VAR_002634 L79P GCH1_HUMAN VAR_002635 R88P GCH1_HUMAN VAR_002636 R88W GCH1_HUMAN VAR_002637 M102K GCH1_HUMAN VAR_002638 D134V GCH1_HUMAN VAR_002639 C141W GCH1_HUMAN VAR_002640 H144P GCH1_HUMAN VAR_002641 H153P GCH1_HUMAN VAR_002642 R178S GCH1_HUMAN VAR_002643 R184H GCH1_HUMAN VAR_002644 T186K GCH1_HUMAN VAR_002645 G201E GCH1_HUMAN VAR_002646 G203R GCH1_HUMAN VAR_002647 M211I GCH1_HUMAN VAR_002648 K224R GCH1_HUMAN VAR_002649 F234S GCH1_HUMAN VAR_016888 L71Q GCH1_HUMAN VAR_016889 A74V GCH1_HUMAN VAR_016890 G83A GCH1_HUMAN VAR_016892 G90V GCH1_HUMAN VAR_016893 M102R GCH1_HUMAN VAR_016895 D115N GCH1_HUMAN VAR_016896 I135K GCH1_HUMAN VAR_016897 C141R GCH1_HUMAN VAR_016898 L163R GCH1_HUMAN VAR_016899 S176T GCH1_HUMAN VAR_016900 Q180R GCH1_HUMAN VAR_016901 V191I GCH1_HUMAN VAR_016902 P199L GCH1_HUMAN VAR_016903 M211V GCH1_HUMAN VAR_016904 M213V GCH1_HUMAN VAR_016906 R241W GCH1_HUMAN VAR_016907 R249S GCR_HUMAN VAR_004676 D641V GCR_HUMAN VAR_004677 V729I GCR_HUMAN VAR_013472 R477H GCR_HUMAN VAR_013473 G679S GCR_HUMAN VAR_015632 I559N GCR_HUMAN VAR_015633 I747M GCS1_HUMAN VAR_018966 R486T GCS1_HUMAN VAR_018967 F652L GCSP_HUMAN VAR_004979 S564I GCSP_HUMAN VAR_016849 A283P GCSP_HUMAN VAR_016851 R515S GCST_HUMAN VAR_007951 H42R GCST_HUMAN VAR_007952 G47R GCST_HUMAN VAR_007953 G269D GCST_HUMAN VAR_007954 D276H GCST_HUMAN VAR_007955 R320H GCST_HUMAN VAR_016847 N145I GCST_HUMAN VAR_016848 E211K GDAP1_HUMAN VAR_017184 R120Q GDAP1_HUMAN VAR_017185 R161H GDAP1_HUMAN VAR_017186 R282C GDAP1_HUMAN VAR_017187 R310Q GDE_HUMAN VAR_009231 G1448R GDF5_HUMAN VAR_017408 L441P GDIA_HUMAN VAR_008130 L92P GDIA_HUMAN VAR_008131 R423P GDNF_HUMAN VAR_009494 P21S GDNF_HUMAN VAR_009495 R93W GDNF_HUMAN VAR_009496 D150N GDNF_HUMAN VAR_009497 T154S GDNF_HUMAN VAR_018152 I211M GELS_HUMAN VAR_007718 D214N GELS_HUMAN VAR_007719 D214Y GFAP_HUMAN VAR_017464 P47L GFAP_HUMAN VAR_017465 L76F GFAP_HUMAN VAR_017466 N77Y GFAP_HUMAN VAR_017467 R79C GFAP_HUMAN VAR_017468 R79H GFAP_HUMAN VAR_017469 R88C GFAP_HUMAN VAR_017470 R88S GFAP_HUMAN VAR_017471 R239C GFAP_HUMAN VAR_017472 R239H GFAP_HUMAN VAR_017473 A244V GFAP_HUMAN VAR_017474 R258P GFAP_HUMAN VAR_017475 E362D GFAP_HUMAN VAR_017476 R416W GFAP_HUMAN VAR_017477 D78E GFAP_HUMAN VAR_017478 E223Q GFI1_HUMAN VAR_016212 N382S GFI1_HUMAN VAR_016213 K403R GHC1_HUMAN VAR_022737 P206L GHRHR_HUMAN VAR_015796 L144H GHRHR_HUMAN VAR_015797 A176V GHRHR_HUMAN VAR_015798 A222E GHRHR_HUMAN VAR_015799 F242C GHRHR_HUMAN VAR_015800 K329E GHR_HUMAN VAR_002708 E62K GHR_HUMAN VAR_002709 R89K GHR_HUMAN VAR_002710 F114S GHR_HUMAN VAR_002711 V143A GHR_HUMAN VAR_002712 V162D GHR_HUMAN VAR_002713 D170H GHR_HUMAN VAR_002714 R179C GHR_HUMAN VAR_002715 R229G GHR_HUMAN VAR_002716 E242D GHR_HUMAN VAR_018426 C56S GHR_HUMAN VAR_018427 S58L GHR_HUMAN VAR_018428 W68R GHR_HUMAN VAR_018429 P149Q GHR_HUMAN VAR_018430 V162I GHR_HUMAN VAR_018431 I171T GHR_HUMAN VAR_018432 Q172P GHR_HUMAN VAR_018433 V173G GHR_HUMAN VAR_018434 Y226C GHR_HUMAN VAR_018435 S244I GHR_HUMAN VAR_018436 D262N GLCM_HUMAN VAR_003255 V54L GLCM_HUMAN VAR_003256 F76V GLCM_HUMAN VAR_003257 T82I GLCM_HUMAN VAR_003258 G85E GLCM_HUMAN VAR_003259 R87W GLCM_HUMAN VAR_003260 K118N GLCM_HUMAN VAR_003261 G152E GLCM_HUMAN VAR_003262 I158T GLCM_HUMAN VAR_003263 R159Q GLCM_HUMAN VAR_003265 P161S GLCM_HUMAN VAR_003266 T173P GLCM_HUMAN VAR_003267 D179H GLCM_HUMAN VAR_003268 K196Q GLCM_HUMAN VAR_003269 R209P GLCM_HUMAN VAR_003270 A215D GLCM_HUMAN VAR_003271 P217S GLCM_HUMAN VAR_003272 P221T GLCM_HUMAN VAR_003273 W223R GLCM_HUMAN VAR_003275 N227K GLCM_HUMAN VAR_003277 G234E GLCM_HUMAN VAR_003278 S235P GLCM_HUMAN VAR_003279 G241R GLCM_HUMAN VAR_003280 Y251H GLCM_HUMAN VAR_003282 F255Y GLCM_HUMAN VAR_003283 S276P GLCM_HUMAN VAR_003284 R296Q GLCM_HUMAN VAR_003285 P305R GLCM_HUMAN VAR_003286 R324C GLCM_HUMAN VAR_003287 P328L GLCM_HUMAN VAR_003288 K342I GLCM_HUMAN VAR_003289 A348V GLCM_HUMAN VAR_003290 W351C GLCM_HUMAN VAR_003291 Y352H GLCM_HUMAN VAR_003292 D354H GLCM_HUMAN VAR_003293 A357D GLCM_HUMAN VAR_003294 T362I GLCM_HUMAN VAR_003295 L363P GLCM_HUMAN VAR_003296 G364R GLCM_HUMAN VAR_003297 E365K GLCM_HUMAN VAR_003298 C381G GLCM_HUMAN VAR_003299 R398Q GLCM_HUMAN VAR_003300 S403T GLCM_HUMAN VAR_003301 T408M GLCM_HUMAN VAR_003302 N409S GLCM_HUMAN VAR_003303 G416S GLCM_HUMAN VAR_003304 W417G GLCM_HUMAN VAR_003305 D419A GLCM_HUMAN VAR_003306 D419N GLCM_HUMAN VAR_003307 G428E GLCM_HUMAN VAR_003308 P430L GLCM_HUMAN VAR_003309 N431I GLCM_HUMAN VAR_003310 V433L GLCM_HUMAN VAR_003311 N435T GLCM_HUMAN VAR_003312 D438N GLCM_HUMAN VAR_003314 D448V GLCM_HUMAN VAR_003315 Y451H GLCM_HUMAN VAR_003316 P454R GLCM_HUMAN VAR_003317 F456V GLCM_HUMAN VAR_003318 Y457C GLCM_HUMAN VAR_003319 K464E GLCM_HUMAN VAR_003320 L483R GLCM_HUMAN VAR_003321 L483P GLCM_HUMAN VAR_003322 A485P GLCM_HUMAN VAR_003323 A495P GLCM_HUMAN VAR_003324 R502C GLCM_HUMAN VAR_003326 G517S GLCM_HUMAN VAR_003327 R535C GLCM_HUMAN VAR_003328 R535H GLCM_HUMAN VAR_009034 S146L GLCM_HUMAN VAR_009035 R170C GLCM_HUMAN VAR_009036 R170L GLCM_HUMAN VAR_009037 P198L GLCM_HUMAN VAR_009038 A229E GLCM_HUMAN VAR_009039 G234W GLCM_HUMAN VAR_009040 H294Q GLCM_HUMAN VAR_009041 F298L GLCM_HUMAN VAR_009042 R324H GLCM_HUMAN VAR_009043 Y343C GLCM_HUMAN VAR_009045 A380T GLCM_HUMAN VAR_009046 S405N GLCM_HUMAN VAR_009047 W432R GLCM_HUMAN VAR_009049 N501K GLCM_HUMAN VAR_009050 D513Y GLCM_HUMAN VAR_010059 I200S GLCM_HUMAN VAR_010060 G228V GLCM_HUMAN VAR_010061 G241E GLCM_HUMAN VAR_010062 Y244C GLCM_HUMAN VAR_010063 G304D GLCM_HUMAN VAR_010064 S310N GLCM_HUMAN VAR_010065 V391L GLCM_HUMAN VAR_010066 R392G GLCM_HUMAN VAR_010067 S405G GLCM_HUMAN VAR_010068 V414L GLCM_HUMAN VAR_010069 P426L GLCM_HUMAN VAR_010070 V437L GLCM_HUMAN VAR_010071 P440L GLCM_HUMAN VAR_010072 I441T GLCM_HUMAN VAR_010073 F450I GLCM_HUMAN VAR_010074 K452Q GLCM_HUMAN VAR_010075 T530I GLCNE_HUMAN VAR_017945 P36L GLCNE_HUMAN VAR_017946 I200F GLCNE_HUMAN VAR_017947 D225N GLCNE_HUMAN VAR_017948 R246Q GLCNE_HUMAN VAR_017949 R246W GLCNE_HUMAN VAR_017950 R263L GLCNE_HUMAN VAR_017951 R266Q GLCNE_HUMAN VAR_017952 R266W GLCNE_HUMAN VAR_017953 C303V GLCNE_HUMAN VAR_017954 D378Y GLCNE_HUMAN VAR_017955 A460V GLCNE_HUMAN VAR_017956 A524V GLCNE_HUMAN VAR_017957 F528C GLCNE_HUMAN VAR_017958 I557T GLCNE_HUMAN VAR_017959 V572L GLCNE_HUMAN VAR_017960 G576E GLCNE_HUMAN VAR_017961 I587T GLCNE_HUMAN VAR_017962 A631T GLCNE_HUMAN VAR_017963 A631V GLCNE_HUMAN VAR_017964 Y675H GLCNE_HUMAN VAR_017965 V696M GLCNE_HUMAN VAR_017966 M712T GLCNE_HUMAN VAR_021771 P27S GLCNE_HUMAN VAR_021772 H132Q GLCNE_HUMAN VAR_021773 R162C GLCNE_HUMAN VAR_021774 M171V GLCNE_HUMAN VAR_021775 D176V GLCNE_HUMAN VAR_021776 R177C GLCNE_HUMAN VAR_021777 G206S GLCNE_HUMAN VAR_021778 V216A GLCNE_HUMAN VAR_021779 R306Q GLCNE_HUMAN VAR_021780 V331A GLCNE_HUMAN VAR_021781 I472T GLCNE_HUMAN VAR_021782 N519S GLCNE_HUMAN VAR_021783 A600T GLCNE_HUMAN VAR_021784 A630T GLGB_HUMAN VAR_022429 L224P GLGB_HUMAN VAR_022430 F257L GLGB_HUMAN VAR_022431 Y329S GLGB_HUMAN VAR_022432 R515C GLGB_HUMAN VAR_022433 R515H GLGB_HUMAN VAR_022434 R524Q GLGB_HUMAN VAR_022435 H545R GLGB_HUMAN VAR_022436 H628R GLI3_HUMAN VAR_009876 G727R GLI3_HUMAN VAR_010053 C515G GLI3_HUMAN VAR_010054 C520Y GLI3_HUMAN VAR_010055 P707S GLI3_HUMAN VAR_010056 I808M GLI3_HUMAN VAR_021481 R625W GLI3_HUMAN VAR_021482 A934P GLPK_HUMAN VAR_001377 D440V GLPK_HUMAN VAR_010138 W503R GLPK_HUMAN VAR_015433 N288D GLRA1_HUMAN VAR_000296 I272N GLRA1_HUMAN VAR_000297 Q294H GLRA1_HUMAN VAR_000298 R299L GLRA1_HUMAN VAR_000299 R299Q GLRA1_HUMAN VAR_000300 K304E GLRA1_HUMAN VAR_000301 Y307C GLRA1_HUMAN VAR_010112 P278T GLRA1_HUMAN VAR_010113 R280H GLRA1_HUMAN VAR_010114 R420H GNAS_HUMAN VAR_003439 L99P GNAS_HUMAN VAR_003440 R165C GNAS_HUMAN VAR_003444 R385H GNAS_HUMAN VAR_015388 R258W GNAS_HUMAN VAR_017843 P115L GNAS_HUMAN VAR_017844 R201G GNAS_HUMAN VAR_017848 R231H GNAS_HUMAN VAR_017849 S250R GNAS_HUMAN VAR_017850 A366S GNAT1_HUMAN VAR_009279 G37D GNMT_HUMAN VAR_012766 L49P GNMT_HUMAN VAR_012767 H176N GNMT_HUMAN VAR_019840 N140S GNPAT_HUMAN VAR_006357 R211C GNPAT_HUMAN VAR_006358 R211H GNRHR_HUMAN VAR_019311 N10K GNRHR_HUMAN VAR_019312 E90K GNRHR_HUMAN VAR_019313 Q106R GNRHR_HUMAN VAR_019314 A129D GNRHR_HUMAN VAR_019315 R139H GNRHR_HUMAN VAR_019316 S168R GNRHR_HUMAN VAR_019317 A171T GNRHR_HUMAN VAR_019318 S217R GNRHR_HUMAN VAR_019319 R262Q GNRHR_HUMAN VAR_019320 Y284C GP143_HUMAN VAR_005507 G35D GP143_HUMAN VAR_005508 G84D GP143_HUMAN VAR_005509 G84R GP143_HUMAN VAR_005510 C116R GP143_HUMAN VAR_005511 G118E GP143_HUMAN VAR_005513 W133R GP143_HUMAN VAR_005514 A138V GP143_HUMAN VAR_005515 S152N GP143_HUMAN VAR_005516 A173D GP143_HUMAN VAR_005517 T232K GP143_HUMAN VAR_005518 E235K GP143_HUMAN VAR_005520 W292G GP143_HUMAN VAR_018130 R5C GP143_HUMAN VAR_018131 L39R GP143_HUMAN VAR_018132 D78N GP143_HUMAN VAR_018133 D78V GP143_HUMAN VAR_018134 C116S GP143_HUMAN VAR_018135 Q124R GP143_HUMAN VAR_018136 G229V GP143_HUMAN VAR_018137 E233K GP143_HUMAN VAR_018138 I244V GP143_HUMAN VAR_018139 I261N GP143_HUMAN VAR_018140 E271G GP143_HUMAN VAR_018141 W292C GP1BA_HUMAN VAR_005256 C81R GP1BA_HUMAN VAR_005258 A172V GP1BA_HUMAN VAR_005260 C225S GP1BA_HUMAN VAR_014206 L73F GP1BA_HUMAN VAR_014207 L145P GPC3_HUMAN VAR_021385 W296R GPIX_HUMAN VAR_005263 D37G GPT_HUMAN VAR_017243 Y170C GPX4_HUMAN VAR_017064 A120T GSH1_HUMAN VAR_013514 H369L GSH1_HUMAN VAR_015403 P157L GSH1_HUMAN VAR_021110 R126C GSHB_HUMAN VAR_003602 A26D GSHB_HUMAN VAR_003603 L188P GSHB_HUMAN VAR_003604 D219A GSHB_HUMAN VAR_003605 D219G GSHB_HUMAN VAR_003606 L254R GSHB_HUMAN VAR_003607 R267W GSHB_HUMAN VAR_003608 Y270C GSHB_HUMAN VAR_003609 Y270H GSHB_HUMAN VAR_003610 R283C GSHB_HUMAN VAR_003611 L286Q GSHB_HUMAN VAR_003612 R330C GSHB_HUMAN VAR_003613 G464V GSHB_HUMAN VAR_003614 D469E GTR2_HUMAN VAR_018651 L389P GTR2_HUMAN VAR_018652 P417L GTR2_HUMAN VAR_018653 V423E GTR4_HUMAN VAR_007170 V383I GUC1A_HUMAN VAR_001372 Y98C GUC1A_HUMAN VAR_010648 P49L GUC1A_HUMAN VAR_012987 E154G GUC2D_HUMAN VAR_003435 A52S GUC2D_HUMAN VAR_003436 E837D GUC2D_HUMAN VAR_003437 R838C GUC2D_HUMAN VAR_009128 V274P GUC2D_HUMAN VAR_009129 A362S GUC2D_HUMAN VAR_009130 I573V GUC2D_HUMAN VAR_009131 F565S GUC2D_HUMAN VAR_009132 P701S GUC2D_HUMAN VAR_009134 P858S GUC2D_HUMAN VAR_009135 L954P GUC2D_HUMAN VAR_015373 R838H GYS2_HUMAN VAR_007860 N39S GYS2_HUMAN VAR_007861 A339P GYS2_HUMAN VAR_007862 H446D GYS2_HUMAN VAR_007863 P479Q GYS2_HUMAN VAR_007864 S483P GYS2_HUMAN VAR_007865 M491R HAIR_HUMAN VAR_005266 T1022A HAIR_HUMAN VAR_005267 V1136D HAIR_HUMAN VAR_016222 D1012N HCD2_HUMAN VAR_015987 L121V HCD2_HUMAN VAR_015988 R129C HEM0_HUMAN VAR_000562 T388S HEM0_HUMAN VAR_000563 R411C HEM0_HUMAN VAR_000564 I476N HEM0_HUMAN VAR_012334 Y199H HEM0_HUMAN VAR_012335 R204Q HEM0_HUMAN VAR_012336 R448Q HEM0_HUMAN VAR_012337 R452C HEM0_HUMAN VAR_018604 D159Y HEM0_HUMAN VAR_018605 R560H HEM2_HUMAN VAR_003634 G133R HEM2_HUMAN VAR_003635 R240W HEM2_HUMAN VAR_003636 A274T HEM2_HUMAN VAR_003637 V275M HEM2_HUMAN VAR_020974 V153M HEM3_HUMAN VAR_003638 R22C HEM3_HUMAN VAR_003639 R26H HEM3_HUMAN VAR_003640 A31T HEM3_HUMAN VAR_003641 Q34K HEM3_HUMAN VAR_003642 A55S HEM3_HUMAN VAR_003643 V93F HEM3_HUMAN VAR_003644 K98R HEM3_HUMAN VAR_003645 G111R HEM3_HUMAN VAR_003646 R116Q HEM3_HUMAN VAR_003647 R116W HEM3_HUMAN VAR_003648 P119L HEM3_HUMAN VAR_003649 R149L HEM3_HUMAN VAR_003650 R149Q HEM3_HUMAN VAR_003651 R167Q HEM3_HUMAN VAR_003652 R167W HEM3_HUMAN VAR_003653 R173Q HEM3_HUMAN VAR_003654 R173W HEM3_HUMAN VAR_003655 L177R HEM3_HUMAN VAR_003656 R195C HEM3_HUMAN VAR_003657 R201W HEM3_HUMAN VAR_003658 V222M HEM3_HUMAN VAR_003659 E223K HEM3_HUMAN VAR_003660 R225G HEM3_HUMAN VAR_003661 L238R HEM3_HUMAN VAR_003662 L245R HEM3_HUMAN VAR_003663 C247F HEM3_HUMAN VAR_003664 C247R HEM3_HUMAN VAR_003665 E250A HEM3_HUMAN VAR_003666 E250K HEM3_HUMAN VAR_003667 A252T HEM3_HUMAN VAR_003668 A252V HEM3_HUMAN VAR_003669 H256N HEM3_HUMAN VAR_003670 T269I HEM3_HUMAN VAR_003671 G274R HEM3_HUMAN VAR_003672 L278P HEM3_HUMAN VAR_003673 G280R HEM3_HUMAN VAR_011001 G24S HEM3_HUMAN VAR_011002 R26C HEM3_HUMAN VAR_011003 S28N HEM3_HUMAN VAR_011004 A31P HEM3_HUMAN VAR_011005 Q34P HEM3_HUMAN VAR_011006 T35M HEM3_HUMAN VAR_011007 L42S HEM3_HUMAN VAR_011008 D61N HEM3_HUMAN VAR_011009 L85R HEM3_HUMAN VAR_011010 V90G HEM3_HUMAN VAR_011011 V124D HEM3_HUMAN VAR_011012 D178N HEM3_HUMAN VAR_011013 V202L HEM3_HUMAN VAR_011014 E209K HEM3_HUMAN VAR_011015 G216D HEM3_HUMAN VAR_011016 Q217H HEM3_HUMAN VAR_011017 Q217L HEM3_HUMAN VAR_011018 A219D HEM3_HUMAN VAR_011020 E250Q HEM3_HUMAN VAR_011021 E250V HEM3_HUMAN VAR_011022 H256Y HEM3_HUMAN VAR_011023 V267M HEM3_HUMAN VAR_011024 A270D HEM3_HUMAN VAR_011025 A270G HEM3_HUMAN VAR_011028 G335D HEM3_HUMAN VAR_011029 G335S HEM4_HUMAN VAR_003674 L4F HEM4_HUMAN VAR_003675 Y19C HEM4_HUMAN VAR_003676 P53L HEM4_HUMAN VAR_003677 T62A HEM4_HUMAN VAR_003678 A66V HEM4_HUMAN VAR_003679 C73R HEM4_HUMAN VAR_003680 V82F HEM4_HUMAN VAR_003681 V99A HEM4_HUMAN VAR_003682 A104V HEM4_HUMAN VAR_003683 S212P HEM4_HUMAN VAR_003684 G225S HEM4_HUMAN VAR_003685 T228M HEM4_HUMAN VAR_013558 G188R HEM4_HUMAN VAR_021615 V3F HEM4_HUMAN VAR_021616 S47P HEM4_HUMAN VAR_021617 A69T HEM4_HUMAN VAR_021618 I129T HEM4_HUMAN VAR_021619 G188W HEM4_HUMAN VAR_021621 I219S HEM6_HUMAN VAR_002152 G189S HEM6_HUMAN VAR_002153 G197W HEM6_HUMAN VAR_002154 E201K HEM6_HUMAN VAR_002155 P249S HEM6_HUMAN VAR_002157 G280R HEM6_HUMAN VAR_002159 H295D HEM6_HUMAN VAR_002160 R331W HEM6_HUMAN VAR_002162 K404E HEM6_HUMAN VAR_002163 W427R HEM6_HUMAN VAR_019067 S208F HEM6_HUMAN VAR_019068 R328C HEM6_HUMAN VAR_019069 R447C HEM6_HUMAN VAR_023444 V135A HEM6_HUMAN VAR_023445 L214R HEM6_HUMAN VAR_023446 P249R HEMH_HUMAN VAR_002384 I186T HEMH_HUMAN VAR_002385 M267I HEMH_HUMAN VAR_002386 H386P HEMH_HUMAN VAR_002387 F417S HESX1_HUMAN VAR_010225 R160C HEXA_HUMAN VAR_003202 P25S HEXA_HUMAN VAR_003203 L39R HEXA_HUMAN VAR_003204 L127R HEXA_HUMAN VAR_003205 R166G HEXA_HUMAN VAR_003206 R170Q HEXA_HUMAN VAR_003207 R170W HEXA_HUMAN VAR_003208 R178C HEXA_HUMAN VAR_003209 R178H HEXA_HUMAN VAR_003210 R178L HEXA_HUMAN VAR_003211 Y180H HEXA_HUMAN VAR_003212 V192L HEXA_HUMAN VAR_003213 N196S HEXA_HUMAN VAR_003214 K197T HEXA_HUMAN VAR_003216 H204R HEXA_HUMAN VAR_003217 S210F HEXA_HUMAN VAR_003218 F211S HEXA_HUMAN VAR_003221 G250D HEXA_HUMAN VAR_003222 G250S HEXA_HUMAN VAR_003223 R252H HEXA_HUMAN VAR_003224 D258H HEXA_HUMAN VAR_003225 G269S HEXA_HUMAN VAR_003226 S279P HEXA_HUMAN VAR_003227 M301R HEXA_HUMAN VAR_003230 I335F HEXA_HUMAN VAR_003232 V391M HEXA_HUMAN VAR_003234 W420C HEXA_HUMAN VAR_003236 G454S HEXA_HUMAN VAR_003237 G455R HEXA_HUMAN VAR_003238 C458Y HEXA_HUMAN VAR_003239 W474C HEXA_HUMAN VAR_003240 E482K HEXA_HUMAN VAR_003241 L484Q HEXA_HUMAN VAR_003242 W485R HEXA_HUMAN VAR_003243 R499C HEXA_HUMAN VAR_003244 R499H HEXA_HUMAN VAR_003245 R504C HEXA_HUMAN VAR_003246 R504H HEXA_HUMAN VAR_017188 R252L HEXA_HUMAN VAR_017189 N295S HEXA_HUMAN VAR_022439 L127F HEXA_HUMAN VAR_022440 S226F HEXA_HUMAN VAR_022441 G269D HEXA_HUMAN VAR_022442 D314V HEXB_HUMAN VAR_003247 S62L HEXB_HUMAN VAR_003250 C309Y HEXB_HUMAN VAR_003251 P417L HEXB_HUMAN VAR_003252 Y456S HEXB_HUMAN VAR_003253 R505Q HEXB_HUMAN VAR_003254 C534Y HEXB_HUMAN VAR_011704 S255R HEXB_HUMAN VAR_011705 P504S HEXB_HUMAN VAR_011706 A543T HFE_HUMAN VAR_008113 Q127H HFE_HUMAN VAR_008114 R330M HFE_HUMAN VAR_008729 G93R HFE_HUMAN VAR_008730 I105T HGD_HUMAN VAR_005272 E42A HGD_HUMAN VAR_005273 W60G HGD_HUMAN VAR_005274 Y62C HGD_HUMAN VAR_005275 W97G HGD_HUMAN VAR_005276 A122D HGD_HUMAN VAR_005277 D153G HGD_HUMAN VAR_005278 G161R HGD_HUMAN VAR_005279 S189I HGD_HUMAN VAR_005280 I216T HGD_HUMAN VAR_005281 R225H HGD_HUMAN VAR_005282 F227S HGD_HUMAN VAR_005283 P230S HGD_HUMAN VAR_005284 P230T HGD_HUMAN VAR_005285 D291E HGD_HUMAN VAR_005286 V300G HGD_HUMAN VAR_005287 M368V HGD_HUMAN VAR_008744 R330S HGD_HUMAN VAR_008745 H371R HGD_HUMAN VAR_009618 L25P HGD_HUMAN VAR_009619 E168K HGD_HUMAN VAR_009620 G270R HLXB9_HUMAN VAR_017874 R247G HLXB9_HUMAN VAR_017875 R247H HLXB9_HUMAN VAR_017876 T248S HLXB9_HUMAN VAR_017877 W290G HLXB9_HUMAN VAR_017878 W290L HLXB9_HUMAN VAR_017879 Q292P HLXB9_HUMAN VAR_017880 R294W HLXB9_HUMAN VAR_017881 R295Q HLXB9_HUMAN VAR_017882 R295W HMGCL_HUMAN VAR_003744 R41Q HMGCL_HUMAN VAR_003745 D42E HMGCL_HUMAN VAR_003746 D42G HMGCL_HUMAN VAR_003747 D42H HMGCL_HUMAN VAR_003748 V70L HMGCL_HUMAN VAR_003749 H233R HMGCL_HUMAN VAR_014202 E279K HNF1A_HUMAN VAR_003756 Y122C HNF1A_HUMAN VAR_003757 S142F HNF1A_HUMAN VAR_003758 R159Q HNF1A_HUMAN VAR_003759 R272H HNF1A_HUMAN VAR_003760 P447L HNF1A_HUMAN VAR_003761 R583G HNF1A_HUMAN VAR_010537 L12H HNF1A_HUMAN VAR_010538 G31D HNF1A_HUMAN VAR_010539 E48K HNF1A_HUMAN VAR_010541 L107R HNF1A_HUMAN VAR_010542 K117E HNF1A_HUMAN VAR_010543 I128N HNF1A_HUMAN VAR_010544 P129T HNF1A_HUMAN VAR_010545 R131Q HNF1A_HUMAN VAR_010546 R131W HNF1A_HUMAN VAR_010547 V133M HNF1A_HUMAN VAR_010548 H143Y HNF1A_HUMAN VAR_010549 K158N HNF1A_HUMAN VAR_010550 R159W HNF1A_HUMAN VAR_010551 A161T HNF1A_HUMAN VAR_010553 R200W HNF1A_HUMAN VAR_010554 R203C HNF1A_HUMAN VAR_010555 K205Q HNF1A_HUMAN VAR_010556 R229Q HNF1A_HUMAN VAR_010557 C241G HNF1A_HUMAN VAR_010559 V259D HNF1A_HUMAN VAR_010560 T260M HNF1A_HUMAN VAR_010561 R263C HNF1A_HUMAN VAR_010562 R271W HNF1A_HUMAN VAR_010565 G415R HNF1A_HUMAN VAR_010567 P519L HNF1A_HUMAN VAR_010568 T537R HNF1A_HUMAN VAR_010571 S594I HNF1A_HUMAN VAR_010572 E619K HNF1A_HUMAN VAR_010573 T620I HNF1A_HUMAN VAR_012483 G20R HNF1A_HUMAN VAR_012484 R203H HNF1A_HUMAN VAR_012485 S432C HNF1A_HUMAN VAR_012486 I618M HNF1B_HUMAN VAR_017665 S465R HNF4A_HUMAN VAR_004668 R127W HNF4A_HUMAN VAR_004670 V393I HNF4A_HUMAN VAR_010601 E276Q HPPD_HUMAN VAR_015445 Y159C HPPD_HUMAN VAR_015447 A267V HPPD_HUMAN VAR_015448 I334M HPRT_HUMAN VAR_006750 G6D HPRT_HUMAN VAR_006751 V7G HPRT_HUMAN VAR_006752 G15D HPRT_HUMAN VAR_006753 G15S HPRT_HUMAN VAR_006754 D19V HPRT_HUMAN VAR_006756 L40P HPRT_HUMAN VAR_006757 I41F HPRT_HUMAN VAR_006758 I41T HPRT_HUMAN VAR_006760 R44K HPRT_HUMAN VAR_006761 R47H HPRT_HUMAN VAR_006762 A49V HPRT_HUMAN VAR_006763 A49P HPRT_HUMAN VAR_006764 R50G HPRT_HUMAN VAR_006765 R50P HPRT_HUMAN VAR_006767 V52A HPRT_HUMAN VAR_006768 V52M HPRT_HUMAN VAR_006769 M53L HPRT_HUMAN VAR_006770 M56T HPRT_HUMAN VAR_006771 G57R HPRT_HUMAN VAR_006773 G69E HPRT_HUMAN VAR_006774 G70R HPRT_HUMAN VAR_006775 F73L HPRT_HUMAN VAR_006776 L77V HPRT_HUMAN VAR_006777 D79V HPRT_HUMAN VAR_006778 S103R HPRT_HUMAN VAR_006779 S109L HPRT_HUMAN VAR_006780 V129D HPRT_HUMAN VAR_006781 L130S HPRT_HUMAN VAR_006782 I131M HPRT_HUMAN VAR_006783 I131T HPRT_HUMAN VAR_006784 D134G HPRT_HUMAN VAR_006785 M142K HPRT_HUMAN VAR_006787 A160S HPRT_HUMAN VAR_006788 S161R HPRT_HUMAN VAR_006789 T167I HPRT_HUMAN VAR_006790 P175L HPRT_HUMAN VAR_006791 D176V HPRT_HUMAN VAR_006792 D176Y HPRT_HUMAN VAR_006796 I182T HPRT_HUMAN VAR_006797 D193E HPRT_HUMAN VAR_006798 D193N HPRT_HUMAN VAR_006799 Y194C HPRT_HUMAN VAR_006800 F198V HPRT_HUMAN VAR_006801 D200G HPRT_HUMAN VAR_006802 D200N HPRT_HUMAN VAR_006803 D200Y HPRT_HUMAN VAR_006804 H203D HPRT_HUMAN VAR_006805 H203R HPRT_HUMAN VAR_006806 C205Y HPS3_HUMAN VAR_013251 R397W HRH3_HUMAN VAR_012235 A280V HSF4_HUMAN VAR_017558 A20D HSF4_HUMAN VAR_017559 I87V HSF4_HUMAN VAR_017560 L115P HSF4_HUMAN VAR_017561 R120C HSPB1_HUMAN VAR_018506 R127W HSPB1_HUMAN VAR_018507 S135F HSPB1_HUMAN VAR_018508 R136W HSPB1_HUMAN VAR_018509 T151I HSPB1_HUMAN VAR_018510 P182L HSPB8_HUMAN VAR_018504 K141E HSPB8_HUMAN VAR_018505 K141N HUTH_HUMAN VAR_022915 R206T HUTH_HUMAN VAR_022916 R208L HUTH_HUMAN VAR_022917 P259L HUTH_HUMAN VAR_022918 R322P HXA13_HUMAN VAR_017775 Q371L HXA13_HUMAN VAR_017776 N372H HXD10_HUMAN VAR_022582 M319K HXD13_HUMAN VAR_015952 S308C HXD13_HUMAN VAR_015953 I314L HXK4_HUMAN VAR_003693 E70K HXK4_HUMAN VAR_003694 G80A HXK4_HUMAN VAR_003695 G80S HXK4_HUMAN VAR_003697 S131P HXK4_HUMAN VAR_003698 G175R HXK4_HUMAN VAR_003699 V182M HXK4_HUMAN VAR_003700 A188T HXK4_HUMAN VAR_003701 V203A HXK4_HUMAN VAR_003702 E221K HXK4_HUMAN VAR_003703 V226M HXK4_HUMAN VAR_003704 G227C HXK4_HUMAN VAR_003705 T228M HXK4_HUMAN VAR_003706 E256K HXK4_HUMAN VAR_003707 W257R HXK4_HUMAN VAR_003708 G261R HXK4_HUMAN VAR_003709 E279Q HXK4_HUMAN VAR_003710 G299R HXK4_HUMAN VAR_003711 E300Q HXK4_HUMAN VAR_003712 E300K HXK4_HUMAN VAR_003713 L309P HXK4_HUMAN VAR_003714 K414E HXK4_HUMAN VAR_003715 V455M HXK4_HUMAN VAR_010584 R36W HXK4_HUMAN VAR_010585 A53S HXK4_HUMAN VAR_010586 Y108H HXK4_HUMAN VAR_010587 H137R HXK4_HUMAN VAR_010588 F150S HXK4_HUMAN VAR_010589 T168P HXK4_HUMAN VAR_010590 T209M HXK4_HUMAN VAR_010591 M210T HXK4_HUMAN VAR_010592 C213R HXK4_HUMAN VAR_010593 A259T HXK4_HUMAN VAR_010594 G261E HXK4_HUMAN VAR_010595 S336L HXK4_HUMAN VAR_010596 V367M HXK4_HUMAN VAR_010597 C382Y HXK4_HUMAN VAR_010598 A384T HXK4_HUMAN VAR_010599 R392C HXK4_HUMAN VAR_012350 L164P HXK4_HUMAN VAR_012351 M210K HXK4_HUMAN VAR_012352 I110T HXK4_HUMAN VAR_012353 A119D HXK4_HUMAN VAR_012354 G385V I12R1_HUMAN VAR_015577 R213W IC1_HUMAN VAR_007013 G429R IC1_HUMAN VAR_007014 V454E IC1_HUMAN VAR_007015 A456E IC1_HUMAN VAR_007016 A458T IC1_HUMAN VAR_007017 A458V IC1_HUMAN VAR_007018 A465V IC1_HUMAN VAR_007019 R466C IC1_HUMAN VAR_007020 R466H IC1_HUMAN VAR_007021 R466L IC1_HUMAN VAR_007022 R466S IC1_HUMAN VAR_007023 T467P IC1_HUMAN VAR_007024 V473M IC1_HUMAN VAR_007026 F477S IC1_HUMAN VAR_007028 L481P IC1_HUMAN VAR_007029 L481R IC1_HUMAN VAR_007030 P489R IC1_HUMAN VAR_007031 P498S IDS_HUMAN VAR_007313 D45N IDS_HUMAN VAR_007314 R48P IDS_HUMAN VAR_007315 Y54D IDS_HUMAN VAR_007316 N63D IDS_HUMAN VAR_007317 A68E IDS_HUMAN VAR_007318 A79E IDS_HUMAN VAR_007319 A85T IDS_HUMAN VAR_007320 P86L IDS_HUMAN VAR_007321 P86Q IDS_HUMAN VAR_007322 P86R IDS_HUMAN VAR_007323 S87N IDS_HUMAN VAR_007324 R88C IDS_HUMAN VAR_007325 R88H IDS_HUMAN VAR_007326 R88L IDS_HUMAN VAR_007327 R88P IDS_HUMAN VAR_007328 L92P IDS_HUMAN VAR_007329 G94D IDS_HUMAN VAR_007330 L102R IDS_HUMAN VAR_007331 Y108C IDS_HUMAN VAR_007332 N115Y IDS_HUMAN VAR_007333 T118I IDS_HUMAN VAR_007334 P120H IDS_HUMAN VAR_007335 P120R IDS_HUMAN VAR_007336 E125V IDS_HUMAN VAR_007337 S132W IDS_HUMAN VAR_007338 G134R IDS_HUMAN VAR_007339 K135N IDS_HUMAN VAR_007340 K135R IDS_HUMAN VAR_007341 S143F IDS_HUMAN VAR_007342 H159P IDS_HUMAN VAR_007344 P160R IDS_HUMAN VAR_007345 C184F IDS_HUMAN VAR_007346 C184W IDS_HUMAN VAR_007347 L196S IDS_HUMAN VAR_007348 D198G IDS_HUMAN VAR_007349 L221P IDS_HUMAN VAR_007350 G224E IDS_HUMAN VAR_007351 Y225D IDS_HUMAN VAR_007352 K227Q IDS_HUMAN VAR_007353 P228L IDS_HUMAN VAR_007354 H229Y IDS_HUMAN VAR_007355 D252N IDS_HUMAN VAR_007356 P266H IDS_HUMAN VAR_007357 P266R IDS_HUMAN VAR_007358 D269V IDS_HUMAN VAR_007359 Q293H IDS_HUMAN VAR_007360 S333L IDS_HUMAN VAR_007361 W337R IDS_HUMAN VAR_007362 G340D IDS_HUMAN VAR_007363 W345C IDS_HUMAN VAR_007364 A346D IDS_HUMAN VAR_007365 A346V IDS_HUMAN VAR_007366 K347I IDS_HUMAN VAR_007367 K347T IDS_HUMAN VAR_007368 Y348H IDS_HUMAN VAR_007369 S349I IDS_HUMAN VAR_007370 P358R IDS_HUMAN VAR_007371 L403R IDS_HUMAN VAR_007372 C422G IDS_HUMAN VAR_007373 C432Y IDS_HUMAN VAR_007374 E434K IDS_HUMAN VAR_007375 R468G IDS_HUMAN VAR_007376 R468L IDS_HUMAN VAR_007377 R468Q IDS_HUMAN VAR_007378 R468W IDS_HUMAN VAR_007379 P469H IDS_HUMAN VAR_007380 D478G IDS_HUMAN VAR_007381 D478Y IDS_HUMAN VAR_007382 I485K IDS_HUMAN VAR_007383 I485R IDS_HUMAN VAR_007384 W502C IDS_HUMAN VAR_007385 W502S IDS_HUMAN VAR_007386 E521V IDS_HUMAN VAR_007387 Y523C IDS_HUMAN VAR_008134 E341K IDS_HUMAN VAR_008135 H342Y IDS_HUMAN VAR_008136 S491F IDS_HUMAN VAR_008998 S71R IDS_HUMAN VAR_008999 A82E IDS_HUMAN VAR_009001 Y264N IDS_HUMAN VAR_009002 D334G IDS_HUMAN VAR_009003 Q465P IDUA_HUMAN VAR_003351 G51D IDUA_HUMAN VAR_003352 A75T IDUA_HUMAN VAR_003353 H82P IDUA_HUMAN VAR_003354 R89Q IDUA_HUMAN VAR_003355 R89W IDUA_HUMAN VAR_003358 L218P IDUA_HUMAN VAR_003361 A327P IDUA_HUMAN VAR_003362 D349N IDUA_HUMAN VAR_003365 T366P IDUA_HUMAN VAR_003366 Q380R IDUA_HUMAN VAR_003367 R383H IDUA_HUMAN VAR_003368 T388R IDUA_HUMAN VAR_003373 R489P IDUA_HUMAN VAR_003374 L490P IDUA_HUMAN VAR_003375 R492P IDUA_HUMAN VAR_003376 P496L IDUA_HUMAN VAR_003377 M504T IDUA_HUMAN VAR_003378 P533R IDUA_HUMAN VAR_003379 W626R IDUA_HUMAN VAR_017436 L346R IDUA_HUMAN VAR_017437 R619G IDUA_HUMAN VAR_020975 A79V IDUA_HUMAN VAR_020977 M133I IDUA_HUMAN VAR_020978 E182K IDUA_HUMAN VAR_020979 G208D IDUA_HUMAN VAR_020980 L238Q IDUA_HUMAN VAR_020981 S260F IDUA_HUMAN VAR_020982 D349Y IDUA_HUMAN VAR_020983 N350I IDUA_HUMAN VAR_020984 R363C IDUA_HUMAN VAR_020985 S423R IDUA_HUMAN VAR_020986 F602I IDUA_HUMAN VAR_020987 R628P IF_HUMAN VAR_022742 Q23R IF_HUMAN VAR_022743 S46L IHH_HUMAN VAR_015981 P46L IHH_HUMAN VAR_015982 E95K IHH_HUMAN VAR_015983 D100E IHH_HUMAN VAR_015984 D100N IHH_HUMAN VAR_015985 E131K IHH_HUMAN VAR_015986 V190A IKAP_HUMAN VAR_011327 R696P IL10_HUMAN VAR_015883 G15R IL2RG_HUMAN VAR_002668 D39N IL2RG_HUMAN VAR_002669 C62G IL2RG_HUMAN VAR_002670 E68G IL2RG_HUMAN VAR_002671 E68K IL2RG_HUMAN VAR_002672 N84K IL2RG_HUMAN VAR_002673 Y89C IL2RG_HUMAN VAR_002674 Y105C IL2RG_HUMAN VAR_002675 G114D IL2RG_HUMAN VAR_002676 C115F IL2RG_HUMAN VAR_002677 C115R IL2RG_HUMAN VAR_002678 H123P IL2RG_HUMAN VAR_002679 Y125N IL2RG_HUMAN VAR_002680 Q144P IL2RG_HUMAN VAR_002681 I153N IL2RG_HUMAN VAR_002682 A156V IL2RG_HUMAN VAR_002683 L162H IL2RG_HUMAN VAR_002684 L172P IL2RG_HUMAN VAR_002685 L172Q IL2RG_HUMAN VAR_002686 C182R IL2RG_HUMAN VAR_002687 L183S IL2RG_HUMAN VAR_002688 R222C IL2RG_HUMAN VAR_002689 R224W IL2RG_HUMAN VAR_002690 R226C IL2RG_HUMAN VAR_002691 R226H IL2RG_HUMAN VAR_002692 F227C IL2RG_HUMAN VAR_002693 L230P IL2RG_HUMAN VAR_002694 C231Y IL2RG_HUMAN VAR_002695 G232R IL2RG_HUMAN VAR_002697 W240C IL2RG_HUMAN VAR_002698 S241I IL2RG_HUMAN VAR_002699 M270R IL2RG_HUMAN VAR_002701 R285Q IL2RG_HUMAN VAR_002702 L293Q IMDH1_HUMAN VAR_017031 R224P IMDH1_HUMAN VAR_017032 D226N IMDH1_HUMAN VAR_017033 V268I INGR1_HUMAN VAR_017577 C77Y INGR1_HUMAN VAR_017578 I87T INGR2_HUMAN VAR_023281 T168N INSL3_HUMAN VAR_013235 P93L INSL3_HUMAN VAR_013236 R102C INSL3_HUMAN VAR_017122 N110K INSR_HUMAN VAR_004079 N42K INSR_HUMAN VAR_004080 V55A INSR_HUMAN VAR_004081 G58R INSR_HUMAN VAR_004082 R113P INSR_HUMAN VAR_004083 P220L INSR_HUMAN VAR_004084 H236R INSR_HUMAN VAR_004085 L260P INSR_HUMAN VAR_004086 G393R INSR_HUMAN VAR_004087 F409V INSR_HUMAN VAR_004088 K487E INSR_HUMAN VAR_004089 N489S INSR_HUMAN VAR_004090 R762S INSR_HUMAN VAR_004092 R1020Q INSR_HUMAN VAR_004093 G1035V INSR_HUMAN VAR_004094 A1075D INSR_HUMAN VAR_004095 A1161T INSR_HUMAN VAR_004096 A1162E INSR_HUMAN VAR_004097 M1180I INSR_HUMAN VAR_004098 R1191Q INSR_HUMAN VAR_004099 P1205L INSR_HUMAN VAR_004100 W1220L INSR_HUMAN VAR_004101 W1227S INSR_HUMAN VAR_015539 I146M INSR_HUMAN VAR_015540 R279C INSR_HUMAN VAR_015542 W439S INSR_HUMAN VAR_015907 D86G INSR_HUMAN VAR_015908 L89P INSR_HUMAN VAR_015909 A119V INSR_HUMAN VAR_015910 V167L INSR_HUMAN VAR_015911 C280Y INSR_HUMAN VAR_015912 C301Y INSR_HUMAN VAR_015914 S350L INSR_HUMAN VAR_015917 T858A INSR_HUMAN VAR_015918 I925T INSR_HUMAN VAR_015919 R926W INSR_HUMAN VAR_015920 T937M INSR_HUMAN VAR_015921 P997T INSR_HUMAN VAR_015923 A1055V INSR_HUMAN VAR_015925 R1119W INSR_HUMAN VAR_015926 I1143T INSR_HUMAN VAR_015927 R1158Q INSR_HUMAN VAR_015928 R1158W INSR_HUMAN VAR_015929 R1201Q INSR_HUMAN VAR_015930 R1201W INSR_HUMAN VAR_015931 E1206D INSR_HUMAN VAR_015932 E1206K INSR_HUMAN VAR_015934 R1378Q INS_HUMAN VAR_003971 H34D INS_HUMAN VAR_003974 R89H INS_HUMAN VAR_003975 R89L INVS_HUMAN VAR_022822 P482R INVS_HUMAN VAR_022823 L493S IPF1_HUMAN VAR_009309 C18R IPF1_HUMAN VAR_009310 Q59L IPF1_HUMAN VAR_009311 D76N IPF1_HUMAN VAR_009312 R197H IPK1_HUMAN VAR_011688 L14P IRF6_HUMAN VAR_014961 A2V IRF6_HUMAN VAR_014962 V18A IRF6_HUMAN VAR_014963 V18M IRF6_HUMAN VAR_014964 P39A IRF6_HUMAN VAR_014965 W60G IRF6_HUMAN VAR_014966 A61G IRF6_HUMAN VAR_014967 K66T IRF6_HUMAN VAR_014968 G70R IRF6_HUMAN VAR_014969 P76S IRF6_HUMAN VAR_014970 Q82K IRF6_HUMAN VAR_014971 R84C IRF6_HUMAN VAR_014972 R84H IRF6_HUMAN VAR_014973 N88H IRF6_HUMAN VAR_014974 K89E IRF6_HUMAN VAR_014975 S90G IRF6_HUMAN VAR_014976 D98H IRF6_HUMAN VAR_014977 R250Q IRF6_HUMAN VAR_014978 Q273R IRF6_HUMAN VAR_014981 L294P IRF6_HUMAN VAR_014982 V297I IRF6_HUMAN VAR_014983 K320E IRF6_HUMAN VAR_014984 V321M IRF6_HUMAN VAR_014985 G325E IRF6_HUMAN VAR_014986 L345P IRF6_HUMAN VAR_014987 C347F IRF6_HUMAN VAR_014988 F369S IRF6_HUMAN VAR_014989 C374W IRF6_HUMAN VAR_014990 K388E IRF6_HUMAN VAR_014991 D430N IRK11_HUMAN VAR_001557 L147P IRK11_HUMAN VAR_008663 L355P IRK1_HUMAN VAR_001548 V72E IRK1_HUMAN VAR_001549 D74Y IRK1_HUMAN VAR_001550 W99C IRK1_HUMAN VAR_001551 D108H IRK1_HUMAN VAR_001552 P110L IRK1_HUMAN VAR_001553 V122E IRK1_HUMAN VAR_001554 G167E IRK1_HUMAN VAR_001555 A198T IRK1_HUMAN VAR_001556 V315G IRK1_HUMAN VAR_019724 N124K IRK1_HUMAN VAR_019725 A214V IRK1_HUMAN VAR_019726 S219R IRK1_HUMAN VAR_019727 M357T IRK2_HUMAN VAR_017851 R67W IRK2_HUMAN VAR_017852 D71V IRK2_HUMAN VAR_017854 P186L IRK2_HUMAN VAR_017855 N216H IRK2_HUMAN VAR_017856 R218W IRK2_HUMAN VAR_017857 G300V IRK2_HUMAN VAR_017858 V302M IRS1_HUMAN VAR_005302 S1043Y IRS1_HUMAN VAR_005303 C1095Y ITA2B_HUMAN VAR_003979 G273D ITA2B_HUMAN VAR_003980 R358H ITA2B_HUMAN VAR_003981 G449D ITA2B_HUMAN VAR_003982 Q778P ITA2B_HUMAN VAR_009885 P176A ITA2B_HUMAN VAR_009886 P176L ITA2B_HUMAN VAR_009887 F320S ITA2B_HUMAN VAR_009888 E355K ITB2_HUMAN VAR_003984 D128N ITB2_HUMAN VAR_003985 L149P ITB2_HUMAN VAR_003986 G169R ITB2_HUMAN VAR_003987 P178L ITB2_HUMAN VAR_003988 K196T ITB2_HUMAN VAR_003989 G284S ITB2_HUMAN VAR_003990 N351S ITB2_HUMAN VAR_003992 R593C ITB2_HUMAN VAR_013402 S138P ITB2_HUMAN VAR_013403 G273R ITB3_HUMAN VAR_003998 D145Y ITB3_HUMAN VAR_003999 R240Q ITB3_HUMAN VAR_004000 R240W ITB3_HUMAN VAR_004001 H306P ITB3_HUMAN VAR_004002 C400Y ITB3_HUMAN VAR_004003 C586F ITB3_HUMAN VAR_004004 G598S ITB3_HUMAN VAR_004005 S778P ITB3_HUMAN VAR_010649 L143W ITB3_HUMAN VAR_010651 S188L ITB3_HUMAN VAR_010671 C568R ITB3_HUMAN VAR_010672 G605S ITB4_HUMAN VAR_004006 C61Y ITB4_HUMAN VAR_004007 L156P ITB4_HUMAN VAR_004008 C245G ITB4_HUMAN VAR_004009 R252C ITB4_HUMAN VAR_004010 C562R ITB4_HUMAN VAR_004011 R1281W ITB4_HUMAN VAR_010652 C38R ITB4_HUMAN VAR_011293 D131Y ITB4_HUMAN VAR_011294 G273D ITB4_HUMAN VAR_011295 R283C ITB4_HUMAN VAR_011296 V325D ITB4_HUMAN VAR_011297 L336P ITB4_HUMAN VAR_011299 G931D ITB4_HUMAN VAR_011301 R1225H IVD_HUMAN VAR_000423 L42P IVD_HUMAN VAR_000424 G199V IVD_HUMAN VAR_015960 R50P IVD_HUMAN VAR_015961 D69N IVD_HUMAN VAR_015962 A311V IVD_HUMAN VAR_015963 C357R IVD_HUMAN VAR_015964 V371A IVD_HUMAN VAR_015965 R392C IVD_HUMAN VAR_015966 R411L JAD1C_HUMAN VAR_022730 A388P JAD1C_HUMAN VAR_022731 D402Y JAD1C_HUMAN VAR_022732 E698K JAD1C_HUMAN VAR_022733 L731F JAG1_HUMAN VAR_013186 L37S JAG1_HUMAN VAR_013187 L79H JAG1_HUMAN VAR_013188 A127T JAG1_HUMAN VAR_013189 P129R JAG1_HUMAN VAR_013190 I152T JAG1_HUMAN VAR_013191 P163L JAG1_HUMAN VAR_013192 R184C JAG1_HUMAN VAR_013193 R184G JAG1_HUMAN VAR_013194 R184H JAG1_HUMAN VAR_013195 R184L JAG1_HUMAN VAR_013196 C187S JAG1_HUMAN VAR_013197 C220F JAG1_HUMAN VAR_013198 C229G JAG1_HUMAN VAR_013199 C229Y JAG1_HUMAN VAR_013200 G274D JAG1_HUMAN VAR_013201 C284F JAG1_HUMAN VAR_013202 W288C JAG1_HUMAN VAR_013203 G386R JAG1_HUMAN VAR_013204 C438F JAG1_HUMAN VAR_013205 C731S JAG1_HUMAN VAR_013206 C740R JAG1_HUMAN VAR_013207 C753R JAK3_HUMAN VAR_006284 Y100C JAK3_HUMAN VAR_010492 P151R JAK3_HUMAN VAR_010493 E481G JAK3_HUMAN VAR_010494 R582W JAK3_HUMAN VAR_010497 C759R JAK3_HUMAN VAR_010498 L910S JAK3_HUMAN VAR_019338 D169E JAK3_HUMAN VAR_019339 G589S JIP1_HUMAN VAR_012243 S59N K1199_HUMAN VAR_018165 R187C K1199_HUMAN VAR_018166 R187H K1199_HUMAN VAR_018168 H783Y K1C10_HUMAN VAR_003826 N154H K1C10_HUMAN VAR_003827 R156H K1C10_HUMAN VAR_003828 R156C K1C10_HUMAN VAR_003829 R156P K1C10_HUMAN VAR_003830 R156S K1C10_HUMAN VAR_003831 Y160D K1C10_HUMAN VAR_003832 L161S K1C10_HUMAN VAR_003833 L442Q K1C10_HUMAN VAR_010506 M150R K1C10_HUMAN VAR_010507 M150T K1C10_HUMAN VAR_010508 Y160N K1C10_HUMAN VAR_010509 Y160S K1C10_HUMAN VAR_010510 K439E K1C10_HUMAN VAR_010511 I446T K1C12_HUMAN VAR_003834 R135T K1C12_HUMAN VAR_003835 V143L K1C12_HUMAN VAR_008525 R135I K1C12_HUMAN VAR_008526 R135G K1C12_HUMAN VAR_008527 L140R K1C12_HUMAN VAR_008528 Y429D K1C12_HUMAN VAR_013126 M129T K1C12_HUMAN VAR_013127 Q130P K1C13_HUMAN VAR_003836 L119P K1C13_HUMAN VAR_016035 M108T K1C13_HUMAN VAR_016036 N112S K1C13_HUMAN VAR_016037 L115P K1C14_HUMAN VAR_003837 R124C K1C14_HUMAN VAR_003838 R124H K1C14_HUMAN VAR_003839 E143A K1C14_HUMAN VAR_003840 V269M K1C14_HUMAN VAR_003841 M271R K1C14_HUMAN VAR_003843 L383P K1C14_HUMAN VAR_003844 Y414H K1C14_HUMAN VAR_003845 L418Q K1C14_HUMAN VAR_010438 K115N K1C14_HUMAN VAR_010440 M118T K1C14_HUMAN VAR_010441 Q119R K1C14_HUMAN VAR_010442 L121F K1C14_HUMAN VAR_010443 N122S K1C14_HUMAN VAR_010444 R124S K1C14_HUMAN VAR_010445 Y128D K1C14_HUMAN VAR_010446 L142P K1C14_HUMAN VAR_010447 A246D K1C14_HUMAN VAR_010448 D272G K1C14_HUMAN VAR_010449 A273D K1C14_HUMAN VAR_010450 I376N K1C14_HUMAN VAR_010451 R387C K1C14_HUMAN VAR_010452 E421K K1C16_HUMAN VAR_003846 L131P K1C16_HUMAN VAR_009183 N124S K1C16_HUMAN VAR_009184 R126C K1C16_HUMAN VAR_012855 Q121P K1C16_HUMAN VAR_012856 R126P K1C16_HUMAN VAR_013837 L123R K1C16_HUMAN VAR_017065 M120T K1C16_HUMAN VAR_017066 L127Q K1C16_HUMAN VAR_017067 K353N K1C17_HUMAN VAR_003847 N91D K1C17_HUMAN VAR_003848 N91H K1C17_HUMAN VAR_003849 N91S K1C17_HUMAN VAR_003850 R93H K1C17_HUMAN VAR_003851 Y97D K1C17_HUMAN VAR_010512 M87T K1C17_HUMAN VAR_010513 R93C K1C17_HUMAN VAR_017068 R93P K1C17_HUMAN VAR_017070 L94Q K1C17_HUMAN VAR_017071 L94P K1C17_HUMAN VAR_017073 L98P K1C17_HUMAN VAR_017074 V101M K1C18_HUMAN VAR_003852 H127L K1C18_HUMAN VAR_023054 T102A K1C18_HUMAN VAR_023056 R260Q K1C18_HUMAN VAR_023057 G339R K1C9_HUMAN VAR_003822 N160K K1C9_HUMAN VAR_003823 R162Q K1C9_HUMAN VAR_003824 R162W K1C9_HUMAN VAR_003825 L167S K1C9_HUMAN VAR_010499 M156T K1C9_HUMAN VAR_010500 M156V K1C9_HUMAN VAR_010501 L159V K1C9_HUMAN VAR_010502 N160S K1C9_HUMAN VAR_010503 N160Y K1C9_HUMAN VAR_010504 Q171P K22E_HUMAN VAR_003865 Q187P K22E_HUMAN VAR_003866 E493D K22E_HUMAN VAR_003867 E493K K22E_HUMAN VAR_009185 N192Y K22E_HUMAN VAR_009186 E482K K22E_HUMAN VAR_009187 T485P K22E_HUMAN VAR_010514 I188N K22E_HUMAN VAR_010515 N192D K22E_HUMAN VAR_010516 L490P K22E_HUMAN VAR_017829 N192K K2C1_HUMAN VAR_003853 V154G K2C1_HUMAN VAR_003854 L160P K2C1_HUMAN VAR_003855 S185P K2C1_HUMAN VAR_003856 N187S K2C1_HUMAN VAR_003857 S192P K2C1_HUMAN VAR_003861 E489Q K2C1_HUMAN VAR_017819 K73I K2C1_HUMAN VAR_017820 V154D K2C1_HUMAN VAR_017821 N187K K2C1_HUMAN VAR_017822 N187T K2C1_HUMAN VAR_017823 L213P K2C1_HUMAN VAR_017824 D339V K2C1_HUMAN VAR_017825 I478F K2C1_HUMAN VAR_017826 I478T K2C1_HUMAN VAR_017827 Y481C K2C1_HUMAN VAR_017828 L485P K2C3_HUMAN VAR_003868 E509K K2C4_HUMAN VAR_016038 E449K K2C5_HUMAN VAR_003872 I161S K2C5_HUMAN VAR_003873 N193K K2C5_HUMAN VAR_003874 M327T K2C5_HUMAN VAR_003875 R331C K2C5_HUMAN VAR_003876 L463P K2C5_HUMAN VAR_003877 E475G K2C5_HUMAN VAR_010453 P25L K2C5_HUMAN VAR_010454 P152L K2C5_HUMAN VAR_010455 K173N K2C5_HUMAN VAR_010456 L175F K2C5_HUMAN VAR_010457 N176S K2C5_HUMAN VAR_010458 F179S K2C5_HUMAN VAR_010459 S181P K2C5_HUMAN VAR_010460 V323A K2C5_HUMAN VAR_010461 L325P K2C5_HUMAN VAR_010462 M327K K2C5_HUMAN VAR_010463 D328H K2C5_HUMAN VAR_010464 D328V K2C5_HUMAN VAR_010465 N329K K2C5_HUMAN VAR_010466 I467T K2C5_HUMAN VAR_010467 E477K K2C5_HUMAN VAR_013829 V186L K2C6A_HUMAN VAR_017075 F173V K2C6A_HUMAN VAR_017076 L468R K2C6A_HUMAN VAR_017077 E471K K2C6B_HUMAN VAR_023062 E471K K2C8_HUMAN VAR_023058 G52V K2C8_HUMAN VAR_023059 Y53C K2C8_HUMAN VAR_023060 G61C K6PF_HUMAN VAR_006063 R38L K6PF_HUMAN VAR_006064 R38P K6PF_HUMAN VAR_006065 R99Q K6PF_HUMAN VAR_006066 G208D K6PF_HUMAN VAR_006067 D542A K6PF_HUMAN VAR_006068 W685C K6PF_HUMAN VAR_006069 R695H KAD1_HUMAN VAR_004021 R128W KALM_HUMAN VAR_007720 N267K KALM_HUMAN VAR_012742 E514K KCNA1_HUMAN VAR_001508 V174F KCNA1_HUMAN VAR_001509 I177R KCNA1_HUMAN VAR_001510 T226A KCNA1_HUMAN VAR_001511 R239S KCNA1_HUMAN VAR_001512 F249I KCNA1_HUMAN VAR_001513 V404I KCNA1_HUMAN VAR_001514 V408A KCNA1_HUMAN VAR_020830 F184C KCNA1_HUMAN VAR_020831 T226M KCNA1_HUMAN VAR_020832 E325D KCNA1_HUMAN VAR_020833 L329I KCNA1_HUMAN VAR_020834 S342I KCNE1_HUMAN VAR_008897 T7I KCNE1_HUMAN VAR_008898 V47F KCNE1_HUMAN VAR_008899 L51H KCNE1_HUMAN VAR_008900 S74L KCNE1_HUMAN VAR_008901 D76N KCNE1_HUMAN VAR_008903 W87R KCNE1_HUMAN VAR_009906 R32H KCNE1_HUMAN VAR_009907 R98W KCNE1_HUMAN VAR_009908 P127T KCNE1_HUMAN VAR_012802 V109I KCNE2_HUMAN VAR_008377 M54T KCNE2_HUMAN VAR_008378 I57T KCNE2_HUMAN VAR_015063 V65M KCNE3_HUMAN VAR_015064 R83H KCNH2_HUMAN VAR_008578 N470D KCNH2_HUMAN VAR_008579 R534C KCNH2_HUMAN VAR_008580 A561V KCNH2_HUMAN VAR_008581 R582C KCNH2_HUMAN VAR_008582 I593R KCNH2_HUMAN VAR_008583 G628S KCNH2_HUMAN VAR_008584 V822M KCNH2_HUMAN VAR_008907 F29L KCNH2_HUMAN VAR_008908 N33T KCNH2_HUMAN VAR_008909 G53R KCNH2_HUMAN VAR_008910 R56Q KCNH2_HUMAN VAR_008911 C66G KCNH2_HUMAN VAR_008912 H70R KCNH2_HUMAN VAR_008913 A78P KCNH2_HUMAN VAR_008914 L86R KCNH2_HUMAN VAR_008915 R176W KCNH2_HUMAN VAR_008916 T436M KCNH2_HUMAN VAR_008917 T474I KCNH2_HUMAN VAR_008918 L552S KCNH2_HUMAN VAR_008919 A558P KCNH2_HUMAN VAR_008920 L564P KCNH2_HUMAN VAR_008921 Y569H KCNH2_HUMAN VAR_008922 G572R KCNH2_HUMAN VAR_008923 G572C KCNH2_HUMAN VAR_008924 G584S KCNH2_HUMAN VAR_008925 N588D KCNH2_HUMAN VAR_008926 G601S KCNH2_HUMAN VAR_008927 G604S KCNH2_HUMAN VAR_008928 Y611H KCNH2_HUMAN VAR_008929 V612L KCNH2_HUMAN VAR_008930 T613M KCNH2_HUMAN VAR_008931 A614V KCNH2_HUMAN VAR_008932 N629D KCNH2_HUMAN VAR_008933 N629K KCNH2_HUMAN VAR_008934 V630L KCNH2_HUMAN VAR_008935 V630A KCNH2_HUMAN VAR_008936 N633S KCNH2_HUMAN VAR_008937 F640L KCNH2_HUMAN VAR_008938 S818L KCNH2_HUMAN VAR_009179 N629S KCNH2_HUMAN VAR_009909 G47V KCNH2_HUMAN VAR_009910 P72Q KCNH2_HUMAN VAR_009911 R312C KCNH2_HUMAN VAR_009912 P347S KCNH2_HUMAN VAR_009913 R531Q KCNH2_HUMAN VAR_009914 W585C KCNH2_HUMAN VAR_009915 I593T KCNH2_HUMAN VAR_009916 D609N KCNH2_HUMAN VAR_014371 T65P KCNH2_HUMAN VAR_014373 P451L KCNH2_HUMAN VAR_014374 A561T KCNH2_HUMAN VAR_014375 L615V KCNH2_HUMAN VAR_014376 G626S KCNH2_HUMAN VAR_014377 F627L KCNH2_HUMAN VAR_014378 P632S KCNH2_HUMAN VAR_014379 E637K KCNH2_HUMAN VAR_014380 K638E KCNH2_HUMAN VAR_014382 M645L KCNH2_HUMAN VAR_014383 R752W KCNH2_HUMAN VAR_014384 F805C KCNH2_HUMAN VAR_014385 F805S KCNH2_HUMAN VAR_014386 R823W KCNH2_HUMAN VAR_014387 N861I KCNH2_HUMAN VAR_014389 P917L KCNH2_HUMAN VAR_014390 R922W KCNQ1_HUMAN VAR_001517 R174C KCNQ1_HUMAN VAR_001518 A178P KCNQ1_HUMAN VAR_001519 G189R KCNQ1_HUMAN VAR_001520 R190Q KCNQ1_HUMAN VAR_001521 G216R KCNQ1_HUMAN VAR_001522 V254M KCNQ1_HUMAN VAR_001523 E261K KCNQ1_HUMAN VAR_001524 G269D KCNQ1_HUMAN VAR_001525 L273F KCNQ1_HUMAN VAR_001526 A300T KCNQ1_HUMAN VAR_001527 W305S KCNQ1_HUMAN VAR_001528 G306R KCNQ1_HUMAN VAR_001529 T309R KCNQ1_HUMAN VAR_001530 T312I KCNQ1_HUMAN VAR_001531 I313M KCNQ1_HUMAN VAR_001532 G314S KCNQ1_HUMAN VAR_001533 Y315S KCNQ1_HUMAN VAR_001534 D317N KCNQ1_HUMAN VAR_001535 P320A KCNQ1_HUMAN VAR_001536 G325R KCNQ1_HUMAN VAR_001538 A341E KCNQ1_HUMAN VAR_001540 L342F KCNQ1_HUMAN VAR_001541 A344V KCNQ1_HUMAN VAR_001542 G345E KCNQ1_HUMAN VAR_001543 R366P KCNQ1_HUMAN VAR_001544 A371T KCNQ1_HUMAN VAR_001545 R555C KCNQ1_HUMAN VAR_008124 F157C KCNQ1_HUMAN VAR_008125 Y184S KCNQ1_HUMAN VAR_008126 G345R KCNQ1_HUMAN VAR_008127 S373P KCNQ1_HUMAN VAR_008128 W392R KCNQ1_HUMAN VAR_008939 R174H KCNQ1_HUMAN VAR_008940 D242N KCNQ1_HUMAN VAR_008941 R243H KCNQ1_HUMAN VAR_008942 W248R KCNQ1_HUMAN VAR_008943 L250H KCNQ1_HUMAN VAR_008944 E261D KCNQ1_HUMAN VAR_008945 Y281C KCNQ1_HUMAN VAR_008946 Y315C KCNQ1_HUMAN VAR_008947 K318N KCNQ1_HUMAN VAR_008948 R366W KCNQ1_HUMAN VAR_008949 R533W KCNQ1_HUMAN VAR_008950 R539W KCNQ1_HUMAN VAR_008951 T587M KCNQ1_HUMAN VAR_008952 G589D KCNQ1_HUMAN VAR_008953 R591H KCNQ1_HUMAN VAR_009180 L353P KCNQ1_HUMAN VAR_009181 A525T KCNQ1_HUMAN VAR_009918 Y111C KCNQ1_HUMAN VAR_009919 E160K KCNQ1_HUMAN VAR_009920 A178T KCNQ1_HUMAN VAR_009921 G179S KCNQ1_HUMAN VAR_009922 A194P KCNQ1_HUMAN VAR_009923 S225L KCNQ1_HUMAN VAR_009924 L266P KCNQ1_HUMAN VAR_009925 G269S KCNQ1_HUMAN VAR_009926 V310I KCNQ1_HUMAN VAR_009927 T311I KCNQ1_HUMAN VAR_009928 S349W KCNQ1_HUMAN VAR_009929 R366Q KCNQ1_HUMAN VAR_009930 T391I KCNQ1_HUMAN VAR_009931 P448R KCNQ1_HUMAN VAR_009932 S566F KCNQ1_HUMAN VAR_009933 R583C KCNQ1_HUMAN VAR_009934 R594Q KCNQ1_HUMAN VAR_010933 R243C KCNQ1_HUMAN VAR_010934 V417M KCNQ1_HUMAN VAR_015742 S140G KCNQ2_HUMAN VAR_010929 R214W KCNQ2_HUMAN VAR_010930 Y284C KCNQ2_HUMAN VAR_010931 A306T KCNQ3_HUMAN VAR_001546 G310V KCNQ3_HUMAN VAR_010935 W309R KCNQ4_HUMAN VAR_001547 G285S KCNQ4_HUMAN VAR_008726 W276S KCNQ4_HUMAN VAR_008727 G285C KCNQ4_HUMAN VAR_008728 G321S KCNQ4_HUMAN VAR_010936 L274H KCNQ4_HUMAN VAR_010937 L281S KERA_HUMAN VAR_012753 T215K KERA_HUMAN VAR_012754 N247S KHK_HUMAN VAR_006072 G40R KHK_HUMAN VAR_006073 A43T KI21A_HUMAN VAR_019399 M356T KI21A_HUMAN VAR_019400 M947R KI21A_HUMAN VAR_019401 M947V KI21A_HUMAN VAR_019402 R954Q KI21A_HUMAN VAR_019403 R954W KI21A_HUMAN VAR_019404 I1010T KIF1B_HUMAN VAR_011515 Q98L KIME_HUMAN VAR_004022 H20P KIME_HUMAN VAR_004023 P167L KIME_HUMAN VAR_004024 I268T KIME_HUMAN VAR_004025 N301T KIME_HUMAN VAR_004026 A334T KIME_HUMAN VAR_004027 V377I KIME_HUMAN VAR_009068 V310M KIME_HUMAN VAR_010956 H20N KIME_HUMAN VAR_010957 L39P KIME_HUMAN VAR_010959 S135L KIME_HUMAN VAR_010960 A148T KIME_HUMAN VAR_010961 S150L KIME_HUMAN VAR_010962 G202R KIME_HUMAN VAR_010963 R215Q KIME_HUMAN VAR_010964 T243I KIME_HUMAN VAR_010965 L264F KIME_HUMAN VAR_010966 L265P KIME_HUMAN VAR_010967 G309S KIME_HUMAN VAR_010968 G326R KISSR_HUMAN VAR_021392 L148S KISSR_HUMAN VAR_021393 C223R KISSR_HUMAN VAR_021394 R297L KITM_HUMAN VAR_019419 I53M KITM_HUMAN VAR_019420 T108M KITM_HUMAN VAR_019421 H121N KITM_HUMAN VAR_019422 I212N KIT_HUMAN VAR_004104 E583K KIT_HUMAN VAR_004105 F584L KIT_HUMAN VAR_004106 G664R KIT_HUMAN VAR_004107 R791G KIT_HUMAN VAR_004108 G812V KPB1_HUMAN VAR_020856 D299V KPB2_HUMAN VAR_006177 H132P KPB2_HUMAN VAR_006178 H132Y KPB2_HUMAN VAR_006180 R186C KPB2_HUMAN VAR_006181 R186H KPB2_HUMAN VAR_006183 D299G KPB2_HUMAN VAR_006185 T1114I KPB2_HUMAN VAR_006186 P1205L KPB2_HUMAN VAR_012269 K189E KPB2_HUMAN VAR_012271 G193V KPB2_HUMAN VAR_012272 R295H KPB2_HUMAN VAR_012273 P399S KPB2_HUMAN VAR_012276 E1125K KPB2_HUMAN VAR_012277 G1207W KPBB_HUMAN VAR_015536 A117P KPCG_HUMAN VAR_017060 H101Y KPCG_HUMAN VAR_017061 S119P KPCG_HUMAN VAR_017062 G128D KPYR_HUMAN VAR_004028 M107T KPYR_HUMAN VAR_004030 V134D KPYR_HUMAN VAR_004031 L155P KPYR_HUMAN VAR_004032 E172Q KPYR_HUMAN VAR_004033 R163C KPYR_HUMAN VAR_004035 G275R KPYR_HUMAN VAR_004036 D281N KPYR_HUMAN VAR_004037 F287V KPYR_HUMAN VAR_004038 I314T KPYR_HUMAN VAR_004039 D331E KPYR_HUMAN VAR_004040 G332S KPYR_HUMAN VAR_004041 A336S KPYR_HUMAN VAR_004042 R337P KPYR_HUMAN VAR_004043 R337Q KPYR_HUMAN VAR_004044 D339H KPYR_HUMAN VAR_004045 G341A KPYR_HUMAN VAR_004047 I357T KPYR_HUMAN VAR_004048 R359C KPYR_HUMAN VAR_004049 R359H KPYR_HUMAN VAR_004050 N361D KPYR_HUMAN VAR_004051 V368F KPYR_HUMAN VAR_004052 T384M KPYR_HUMAN VAR_004053 A392T KPYR_HUMAN VAR_004054 N393K KPYR_HUMAN VAR_004055 N393S KPYR_HUMAN VAR_004057 T408I KPYR_HUMAN VAR_004058 Q421K KPYR_HUMAN VAR_004059 R426Q KPYR_HUMAN VAR_004060 R426W KPYR_HUMAN VAR_004061 A431T KPYR_HUMAN VAR_004062 G458D KPYR_HUMAN VAR_004063 A459V KPYR_HUMAN VAR_004064 V460M KPYR_HUMAN VAR_004065 A468V KPYR_HUMAN VAR_004066 R486W KPYR_HUMAN VAR_004067 R490W KPYR_HUMAN VAR_004068 A495V KPYR_HUMAN VAR_004069 R498C KPYR_HUMAN VAR_004070 R498H KPYR_HUMAN VAR_004071 R510Q KPYR_HUMAN VAR_004072 R532Q KPYR_HUMAN VAR_004073 R532W KPYR_HUMAN VAR_004074 V552M KPYR_HUMAN VAR_004075 R559G KPYR_HUMAN VAR_004076 N566K KPYR_HUMAN VAR_011435 G37E KPYR_HUMAN VAR_011436 S80P KPYR_HUMAN VAR_011437 R86P KPYR_HUMAN VAR_011438 I90N KPYR_HUMAN VAR_011439 G95R KPYR_HUMAN VAR_011440 G111R KPYR_HUMAN VAR_011441 A115P KPYR_HUMAN VAR_011442 S120F KPYR_HUMAN VAR_011443 S130Y KPYR_HUMAN VAR_011444 G159V KPYR_HUMAN VAR_011445 G222A KPYR_HUMAN VAR_011446 D293N KPYR_HUMAN VAR_011447 G263R KPYR_HUMAN VAR_011448 G263W KPYR_HUMAN VAR_011449 V288L KPYR_HUMAN VAR_011450 A295V KPYR_HUMAN VAR_011451 I310N KPYR_HUMAN VAR_011452 E315K KPYR_HUMAN VAR_011453 D331N KPYR_HUMAN VAR_011454 G341D KPYR_HUMAN VAR_011455 I342F KPYR_HUMAN VAR_011456 K348N KPYR_HUMAN VAR_011458 G364D KPYR_HUMAN VAR_011459 S376I KPYR_HUMAN VAR_011460 E387G KPYR_HUMAN VAR_011461 D390N KPYR_HUMAN VAR_011462 A394D KPYR_HUMAN VAR_011463 A394V KPYR_HUMAN VAR_011464 T408A KPYR_HUMAN VAR_011465 E427A KPYR_HUMAN VAR_011466 E427D KPYR_HUMAN VAR_011467 T477A KPYR_HUMAN VAR_011468 S485F KPYR_HUMAN VAR_011469 R488Q KPYR_HUMAN VAR_011470 A495T KPYR_HUMAN VAR_011471 R504L KPYR_HUMAN VAR_011472 G511R KPYR_HUMAN VAR_011473 R531C KPYR_HUMAN VAR_011474 I153T KPYR_HUMAN VAR_011475 I219T KPYR_HUMAN VAR_011476 V335M KPYR_HUMAN VAR_011477 A352D KPYR_HUMAN VAR_011478 R385W KPYR_HUMAN VAR_011479 A468G KPYR_HUMAN VAR_011480 R479H KPYR_HUMAN VAR_011481 G557A KPYR_HUMAN VAR_011482 R569Q KRHB1_HUMAN VAR_018116 E402K KRHB1_HUMAN VAR_018117 E413K KRHB3_HUMAN VAR_023052 E407K KRHB6_HUMAN VAR_018125 N114D KRHB6_HUMAN VAR_018126 E402Q KRHB6_HUMAN VAR_018127 E402K KRHB6_HUMAN VAR_018128 E413K KRHB6_HUMAN VAR_018129 E413D KRHB6_HUMAN VAR_023053 N114H KRIT1_HUMAN VAR_023573 F97S KRIT1_HUMAN VAR_023574 K569E KS6A3_HUMAN VAR_006189 G75V KS6A3_HUMAN VAR_006190 V82F KS6A3_HUMAN VAR_006191 R114W KS6A3_HUMAN VAR_006192 H127Q KS6A3_HUMAN VAR_006193 D154Y KS6A3_HUMAN VAR_006194 A225V KS6A3_HUMAN VAR_006195 S227A KS6A3_HUMAN VAR_006196 G431D KS6A3_HUMAN VAR_006197 R729Q L1CAM_HUMAN VAR_003921 W9S L1CAM_HUMAN VAR_003922 G121S L1CAM_HUMAN VAR_003923 I179S L1CAM_HUMAN VAR_003924 R184Q L1CAM_HUMAN VAR_003925 Y194C L1CAM_HUMAN VAR_003926 H210Q L1CAM_HUMAN VAR_003927 I219T L1CAM_HUMAN VAR_003928 P240L L1CAM_HUMAN VAR_003929 C264Y L1CAM_HUMAN VAR_003930 E309K L1CAM_HUMAN VAR_003931 W335R L1CAM_HUMAN VAR_003932 G370R L1CAM_HUMAN VAR_003933 R386C L1CAM_HUMAN VAR_003935 G452R L1CAM_HUMAN VAR_003936 R473C L1CAM_HUMAN VAR_003937 D598N L1CAM_HUMAN VAR_003938 R632P L1CAM_HUMAN VAR_003939 A691D L1CAM_HUMAN VAR_003940 G698R L1CAM_HUMAN VAR_003941 V768F L1CAM_HUMAN VAR_003942 Y784C L1CAM_HUMAN VAR_003943 L935P L1CAM_HUMAN VAR_003945 P941L L1CAM_HUMAN VAR_003946 Y1070C L1CAM_HUMAN VAR_003947 S1194L L1CAM_HUMAN VAR_003948 S1224L L1CAM_HUMAN VAR_014421 V752M LAMA2_HUMAN VAR_015743 C527Y LAMA2_HUMAN VAR_015744 C862R LAMA2_HUMAN VAR_015745 L2564P LAMA_HUMAN VAR_009973 R60G LAMA_HUMAN VAR_009975 L85R LAMA_HUMAN VAR_009977 N195K LAMA_HUMAN VAR_009978 E203G LAMA_HUMAN VAR_009979 H222Y LAMA_HUMAN VAR_009988 R453W LAMA_HUMAN VAR_009989 G465D LAMA_HUMAN VAR_009991 R482L LAMA_HUMAN VAR_009993 R482W LAMA_HUMAN VAR_009994 K486N LAMA_HUMAN VAR_009995 R527P LAMA_HUMAN VAR_009997 L530P LAMA_HUMAN VAR_009998 R582H LAMA_HUMAN VAR_016205 R377H LAMA_HUMAN VAR_016913 R133L LAMA_HUMAN VAR_017656 A57P LAMA_HUMAN VAR_017657 R133P LAMA_HUMAN VAR_017658 L140R LAMA_HUMAN VAR_017659 E145K LAMA_HUMAN VAR_017660 E161K LAMA_HUMAN VAR_017661 R298C LAMA_HUMAN VAR_017662 R471C LAMA_HUMAN VAR_017663 R527C LAMA_HUMAN VAR_017664 G608S LAMA_HUMAN VAR_018727 R527H LAMB3_HUMAN VAR_004170 E210K LAMB3_HUMAN VAR_004171 P679L LARGE_HUMAN VAR_019811 E509K LBN_HUMAN VAR_017209 I283R LBN_HUMAN VAR_017211 R950W LBR_HUMAN VAR_017841 P119L LBR_HUMAN VAR_017842 P569R LCAT_HUMAN VAR_004252 P34L LCAT_HUMAN VAR_004253 G54S LCAT_HUMAN VAR_004254 G57R LCAT_HUMAN VAR_004255 A117T LCAT_HUMAN VAR_004256 T147I LCAT_HUMAN VAR_004257 R159W LCAT_HUMAN VAR_004258 R164H LCAT_HUMAN VAR_004259 W170R LCAT_HUMAN VAR_004260 Y180N LCAT_HUMAN VAR_004262 L233P LCAT_HUMAN VAR_004263 N252K LCAT_HUMAN VAR_004264 M276K LCAT_HUMAN VAR_004265 M317I LCAT_HUMAN VAR_004266 T345M LCAT_HUMAN VAR_004267 T371M LCB1_HUMAN VAR_011392 C133W LCB1_HUMAN VAR_011393 C133Y LCB1_HUMAN VAR_011394 V144D LDLR_HUMAN VAR_005307 R78C LDLR_HUMAN VAR_005309 C89Y LDLR_HUMAN VAR_005311 D90N LDLR_HUMAN VAR_005313 Q92E LDLR_HUMAN VAR_005314 C95G LDLR_HUMAN VAR_005317 C116R LDLR_HUMAN VAR_005320 C160Y LDLR_HUMAN VAR_005322 D168N LDLR_HUMAN VAR_005323 D168Y LDLR_HUMAN VAR_005325 C173W LDLR_HUMAN VAR_005330 C197R LDLR_HUMAN VAR_005333 D221Y LDLR_HUMAN VAR_005336 D224V LDLR_HUMAN VAR_005342 C231G LDLR_HUMAN VAR_005345 C248Y LDLR_HUMAN VAR_005349 C276Y LDLR_HUMAN VAR_005350 E277K LDLR_HUMAN VAR_005352 D301A LDLR_HUMAN VAR_005353 C302Y LDLR_HUMAN VAR_005354 C302W LDLR_HUMAN VAR_005358 C313Y LDLR_HUMAN VAR_005361 H327Y LDLR_HUMAN VAR_005362 C329Y LDLR_HUMAN VAR_005364 C338S LDLR_HUMAN VAR_005366 D342N LDLR_HUMAN VAR_005368 R350P LDLR_HUMAN VAR_005374 C368R LDLR_HUMAN VAR_005376 A399D LDLR_HUMAN VAR_005379 L414R LDLR_HUMAN VAR_005380 R416Q LDLR_HUMAN VAR_005381 R416W LDLR_HUMAN VAR_005382 I423T LDLR_HUMAN VAR_005391 D482H LDLR_HUMAN VAR_005392 W483R LDLR_HUMAN VAR_005399 N564H LDLR_HUMAN VAR_005405 R633C LDLR_HUMAN VAR_005406 P649L LDLR_HUMAN VAR_005412 D700E LDLR_HUMAN VAR_005415 V797M LDLR_HUMAN VAR_007979 A50S LDLR_HUMAN VAR_007980 S56P LDLR_HUMAN VAR_007981 D175Y LDLR_HUMAN VAR_007982 D221N LDLR_HUMAN VAR_007983 E288K LDLR_HUMAN VAR_007984 D356Y LDLR_HUMAN VAR_007985 Q366R LDLR_HUMAN VAR_007986 C379Y LDLR_HUMAN VAR_007987 L401V LDLR_HUMAN VAR_007988 L432V LDLR_HUMAN VAR_007989 P608S LDLR_HUMAN VAR_008995 F403L LDLR_HUMAN VAR_008996 L568V LDLR_HUMAN VAR_008997 E714K LDLR_HUMAN VAR_013949 C46S LDLR_HUMAN VAR_013951 C184Y LDLR_HUMAN VAR_013953 C261F LGI1_HUMAN VAR_015771 L26R LGI1_HUMAN VAR_015772 C46R LGI1_HUMAN VAR_015773 E383A LGI1_HUMAN VAR_015774 F318C LGI1_HUMAN VAR_023008 C42G LGI1_HUMAN VAR_023009 S473L LGR8_HUMAN VAR_015386 T222P LHX3_HUMAN VAR_010713 Y111C LICH_HUMAN VAR_004248 H129P LICH_HUMAN VAR_004249 H129R LICH_HUMAN VAR_004250 L200P LIPH_HUMAN VAR_004209 S289F LIPH_HUMAN VAR_004210 T405M LIPL_HUMAN VAR_004211 R102S LIPL_HUMAN VAR_004221 S199C LIPL_HUMAN VAR_004228 G222E LIPL_HUMAN VAR_004231 P234L LIPL_HUMAN VAR_004243 L392V LIS1_HUMAN VAR_007724 H148R LIS1_HUMAN VAR_010203 S168P LIS1_HUMAN VAR_015398 F30S LIS1_HUMAN VAR_015399 G161S LIS1_HUMAN VAR_015400 D316H LMX1B_HUMAN VAR_004198 C95F LMX1B_HUMAN VAR_004199 C142W LMX1B_HUMAN VAR_004200 R200Q LMX1B_HUMAN VAR_004201 A213P LMX1B_HUMAN VAR_004202 S218P LMX1B_HUMAN VAR_004203 R226P LMX1B_HUMAN VAR_004204 A230V LMX1B_HUMAN VAR_004205 N246K LMX1B_HUMAN VAR_015190 H54N LMX1B_HUMAN VAR_015191 L58W LMX1B_HUMAN VAR_015192 C60F LMX1B_HUMAN VAR_015193 C60W LMX1B_HUMAN VAR_015194 C80W LMX1B_HUMAN VAR_015195 C95Y LMX1B_HUMAN VAR_015196 H114Y LMX1B_HUMAN VAR_015197 C117Y LMX1B_HUMAN VAR_015198 W243C LMX1B_HUMAN VAR_015201 C36R LMX1B_HUMAN VAR_015202 C36S LMX1B_HUMAN VAR_015203 H54Q LMX1B_HUMAN VAR_015204 H54Y LMX1B_HUMAN VAR_015205 C57R LMX1B_HUMAN VAR_015206 C60G LMX1B_HUMAN VAR_015207 C60Y LMX1B_HUMAN VAR_015208 C63R LMX1B_HUMAN VAR_015209 D83G LMX1B_HUMAN VAR_015210 C120S LMX1B_HUMAN VAR_015211 C123F LMX1B_HUMAN VAR_015212 C123Y LMX1B_HUMAN VAR_015213 L229P LOXE3_HUMAN VAR_015175 R396S LOXE3_HUMAN VAR_015176 V500F LPPRC_HUMAN VAR_018656 A233V LRAT_HUMAN VAR_018386 S175R LRP5_HUMAN VAR_018467 C1361G LRP5_HUMAN VAR_021222 R570Q LRP5_HUMAN VAR_021223 R752C LRP5_HUMAN VAR_021224 E1367K LRP5_HUMAN VAR_021807 D111Y LRP5_HUMAN VAR_021808 G171R LRP5_HUMAN VAR_021809 G171V LRP5_HUMAN VAR_021810 A214T LRP5_HUMAN VAR_021812 A242T LRP5_HUMAN VAR_021813 T253I LSHR_HUMAN VAR_003552 E354K LSHR_HUMAN VAR_003553 A373V LSHR_HUMAN VAR_003554 M398T LSHR_HUMAN VAR_003555 A568V LSHR_HUMAN VAR_003556 M571I LSHR_HUMAN VAR_003557 A572V LSHR_HUMAN VAR_003558 T577I LSHR_HUMAN VAR_003559 D578G LSHR_HUMAN VAR_003560 A593P LSHR_HUMAN VAR_003562 S616Y LSHR_HUMAN VAR_003563 I625K LSHR_HUMAN VAR_010154 C131R LSHR_HUMAN VAR_010155 C343S LSHR_HUMAN VAR_010156 L457R LSHR_HUMAN VAR_010157 I542L LSHR_HUMAN VAR_010158 C543R LSHR_HUMAN VAR_010159 D564G LSHR_HUMAN VAR_010160 I575L LSHR_HUMAN VAR_010161 D578E LSHR_HUMAN VAR_010163 D578Y LSHR_HUMAN VAR_010164 C581R LX12B_HUMAN VAR_015173 L426P LX12B_HUMAN VAR_015174 H578Q LYAG_HUMAN VAR_004288 L299R LYAG_HUMAN VAR_004289 M318T LYAG_HUMAN VAR_004290 W402R LYAG_HUMAN VAR_004291 G478R LYAG_HUMAN VAR_004292 W481R LYAG_HUMAN VAR_004293 M519T LYAG_HUMAN VAR_004294 M519V LYAG_HUMAN VAR_004295 E521K LYAG_HUMAN VAR_004296 S529V LYAG_HUMAN VAR_004297 P545L LYAG_HUMAN VAR_004298 S566P LYAG_HUMAN VAR_004301 G643R LYAG_HUMAN VAR_004302 D645E LYAG_HUMAN VAR_004303 D645H LYAG_HUMAN VAR_004304 D645N LYAG_HUMAN VAR_004305 C647W LYAG_HUMAN VAR_004306 G648S LYAG_HUMAN VAR_004307 R672Q LYAG_HUMAN VAR_004308 R672W LYAG_HUMAN VAR_004310 R725W LYAG_HUMAN VAR_004312 P768R LYAG_HUMAN VAR_004318 V949D LYAG_HUMAN VAR_008689 R600H LYAG_HUMAN VAR_008690 G615R LYAG_HUMAN VAR_018078 C103G LYAG_HUMAN VAR_018079 G219R LYAG_HUMAN VAR_018080 P285R LYAG_HUMAN VAR_018081 Y292C LYAG_HUMAN VAR_018082 G293R LYAG_HUMAN VAR_018083 H308P LYAG_HUMAN VAR_018084 G309R LYAG_HUMAN VAR_018085 L312R LYAG_HUMAN VAR_018086 L355P LYAG_HUMAN VAR_018087 C374R LYAG_HUMAN VAR_018088 L405P LYAG_HUMAN VAR_018089 Y455F LYAG_HUMAN VAR_018091 G549R LYAG_HUMAN VAR_018092 L552P LYAG_HUMAN VAR_018093 Y575S LYAG_HUMAN VAR_018094 E579K LYAG_HUMAN VAR_018095 R600C LYAG_HUMAN VAR_018096 G607D LYAG_HUMAN VAR_018097 A880D LYSC_HUMAN VAR_004280 I74T LYSC_HUMAN VAR_004281 D85H LYST_HUMAN VAR_013556 R1563H LYST_HUMAN VAR_013557 V1999D M2GD_HUMAN VAR_011505 H109R MA2B1_HUMAN VAR_003338 H71L MA2B1_HUMAN VAR_003342 T354P MA2B1_HUMAN VAR_003343 P355R MA2B1_HUMAN VAR_003344 E401K MA2B1_HUMAN VAR_003346 W713R MA2B1_HUMAN VAR_003347 R749W MA2B1_HUMAN VAR_003348 L808P MANA_HUMAN VAR_012338 S101L MANA_HUMAN VAR_012339 M137T MANA_HUMAN VAR_012340 R218Q MANA_HUMAN VAR_012345 I139T MANA_HUMAN VAR_022516 M50T MANA_HUMAN VAR_022517 Y128C MANA_HUMAN VAR_022518 D130N MANA_HUMAN VAR_022519 R151Q MANA_HUMAN VAR_022520 G249S MANA_HUMAN VAR_022521 Y254C MANA_HUMAN VAR_022522 R294H MANA_HUMAN VAR_022523 I397T MANA_HUMAN VAR_022524 R417H MASTL_HUMAN VAR_022838 E167D MATN3_HUMAN VAR_013691 R121W MATN3_HUMAN VAR_013692 V194D MATN3_HUMAN VAR_019882 T120M MATN3_HUMAN VAR_019883 A128P MATN3_HUMAN VAR_019884 E134K MATN3_HUMAN VAR_019885 I192N MATN3_HUMAN VAR_019886 A219D MATN3_HUMAN VAR_019888 C304S MATN3_HUMAN VAR_020844 F105S MATP_HUMAN VAR_022710 P58A MATP_HUMAN VAR_022711 P58S MATP_HUMAN VAR_022712 D157N MATP_HUMAN VAR_022713 G188V MATP_HUMAN VAR_022714 W202C MATP_HUMAN VAR_022717 Y317C MATP_HUMAN VAR_022718 L361P MATP_HUMAN VAR_022719 A477T MATP_HUMAN VAR_022720 A486V MCAT_HUMAN VAR_021818 R133W MCAT_HUMAN VAR_021819 D231H MCAT_HUMAN VAR_021820 Q238R MCCA_HUMAN VAR_012785 A289V MCCA_HUMAN VAR_012786 M325R MCCA_HUMAN VAR_012787 R385S MCCA_HUMAN VAR_012788 L437P MCCA_HUMAN VAR_012790 D532H MCCA_HUMAN VAR_012791 S535F MCCC2_HUMAN VAR_012792 E99Q MCCC2_HUMAN VAR_012793 R155Q MCCC2_HUMAN VAR_012794 C167R MCCC2_HUMAN VAR_012795 S173L MCCC2_HUMAN VAR_012796 R193C MCCC2_HUMAN VAR_012797 A218T MCCC2_HUMAN VAR_012798 R268T MCCC2_HUMAN VAR_012799 P310R MCCC2_HUMAN VAR_012800 V339M MCCC2_HUMAN VAR_012801 I437V MCFD2_HUMAN VAR_019076 D129E MCFD2_HUMAN VAR_019077 I136T MCLN1_HUMAN VAR_019369 L106P MCLN1_HUMAN VAR_019370 T232P MCLN1_HUMAN VAR_019371 D362Y MCLN1_HUMAN VAR_019373 V446L MCLN1_HUMAN VAR_019374 L447P MCLN1_HUMAN VAR_019375 F465L MCR_HUMAN VAR_015627 L924P MDR3_HUMAN VAR_023501 T175A MDR3_HUMAN VAR_023502 S320F MDR3_HUMAN VAR_023503 A546D MDR3_HUMAN VAR_023504 P1161S MECP2_HUMAN VAR_010272 R106W MECP2_HUMAN VAR_010273 R133C MECP2_HUMAN VAR_010274 F155S MECP2_HUMAN VAR_010275 T158M MECP2_HUMAN VAR_010276 P101R MECP2_HUMAN VAR_010277 L124F MECP2_HUMAN VAR_010278 S134C MECP2_HUMAN VAR_010279 A140V MECP2_HUMAN VAR_010280 P152R MECP2_HUMAN VAR_010282 R306C MECP2_HUMAN VAR_017462 L100V MECP2_HUMAN VAR_017581 E137G MECP2_HUMAN VAR_018180 E10Q MECP2_HUMAN VAR_018182 D97Y MECP2_HUMAN VAR_018183 P101H MECP2_HUMAN VAR_018184 P101L MECP2_HUMAN VAR_018185 P101T MECP2_HUMAN VAR_018186 R106Q MECP2_HUMAN VAR_018187 R111G MECP2_HUMAN VAR_018188 Q128P MECP2_HUMAN VAR_018189 R133H MECP2_HUMAN VAR_018190 K135E MECP2_HUMAN VAR_018191 D156G MECP2_HUMAN VAR_018192 R167W MECP2_HUMAN VAR_018197 K210I MECP2_HUMAN VAR_018198 P225R MECP2_HUMAN VAR_018203 K284E MECP2_HUMAN VAR_018206 P302A MECP2_HUMAN VAR_018207 P302H MECP2_HUMAN VAR_018208 P302L MECP2_HUMAN VAR_018209 P302R MECP2_HUMAN VAR_018210 K305R MECP2_HUMAN VAR_018211 R306H MECP2_HUMAN VAR_018212 P322A MECP2_HUMAN VAR_018213 P322L MECP2_HUMAN VAR_018214 R344W MECP2_HUMAN VAR_018220 P399L MECP2_HUMAN VAR_018225 R453Q MECP2_HUMAN VAR_023552 D97E MECP2_HUMAN VAR_023553 L100R MECP2_HUMAN VAR_023554 P101S MECP2_HUMAN VAR_023555 Y120D MECP2_HUMAN VAR_023556 F155I MECP2_HUMAN VAR_023557 T158A MECP2_HUMAN VAR_023558 G161V MEFV_HUMAN VAR_009052 E167D MEFV_HUMAN VAR_009054 T267I MEFV_HUMAN VAR_009057 F479L MEFV_HUMAN VAR_009058 M680I MEFV_HUMAN VAR_009059 T681I MEFV_HUMAN VAR_009061 M694I MEFV_HUMAN VAR_009062 M694V MEFV_HUMAN VAR_009064 K695R MEFV_HUMAN VAR_009065 V726A MEFV_HUMAN VAR_009066 A744S MEFV_HUMAN VAR_009067 R761H MEFV_HUMAN VAR_016825 G138A MEFV_HUMAN VAR_016826 E230K MEFV_HUMAN VAR_016828 R653H MEFV_HUMAN VAR_016829 S675N MEFV_HUMAN VAR_016830 M680L MELPH_HUMAN VAR_018724 R35W MEN1_HUMAN VAR_005425 P12L MEN1_HUMAN VAR_005426 L22R MEN1_HUMAN VAR_005428 L39W MEN1_HUMAN VAR_005429 G42D MEN1_HUMAN VAR_005430 E45G MEN1_HUMAN VAR_005432 H139D MEN1_HUMAN VAR_005433 H139Y MEN1_HUMAN VAR_005434 K135I MEN1_HUMAN VAR_005436 F144V MEN1_HUMAN VAR_005437 A165P MEN1_HUMAN VAR_005438 A169D MEN1_HUMAN VAR_005441 D177Y MEN1_HUMAN VAR_005442 A181P MEN1_HUMAN VAR_005443 E184D MEN1_HUMAN VAR_005444 W188S MEN1_HUMAN VAR_005445 V189E MEN1_HUMAN VAR_005446 L228P MEN1_HUMAN VAR_005447 A247V MEN1_HUMAN VAR_005448 E260K MEN1_HUMAN VAR_005449 L269P MEN1_HUMAN VAR_005450 L272P MEN1_HUMAN VAR_005451 A289E MEN1_HUMAN VAR_005452 L291P MEN1_HUMAN VAR_005453 A314P MEN1_HUMAN VAR_005454 R319P MEN1_HUMAN VAR_005455 A342D MEN1_HUMAN VAR_005456 W346R MEN1_HUMAN VAR_005457 T349R MEN1_HUMAN VAR_005458 E364K MEN1_HUMAN VAR_005460 A373D MEN1_HUMAN VAR_005461 D423N MEN1_HUMAN VAR_005464 W441R MEN1_HUMAN VAR_005465 F452S MEN1_HUMAN VAR_005467 S560N MEN1_HUMAN VAR_008017 G161D MEN1_HUMAN VAR_008018 C246R MERL_HUMAN VAR_000810 F62S MERL_HUMAN VAR_000813 E106G MERL_HUMAN VAR_000818 N220Y MERL_HUMAN VAR_000821 T352M MERL_HUMAN VAR_000822 L360P MERL_HUMAN VAR_000825 L535P MERL_HUMAN VAR_000826 Q538P MERL_HUMAN VAR_009123 L234R MERTK_HUMAN VAR_021046 E540K MERTK_HUMAN VAR_021047 S661C MERTK_HUMAN VAR_021048 I871T METH_HUMAN VAR_004330 H920D METH_HUMAN VAR_004331 P1173L METL_HUMAN VAR_006935 A55D METL_HUMAN VAR_006936 R199C METL_HUMAN VAR_006937 R264H METL_HUMAN VAR_006938 L305P METL_HUMAN VAR_006939 I322M METL_HUMAN VAR_006940 R356Q METL_HUMAN VAR_006941 P357L METL_HUMAN VAR_006942 G378S MFN2_HUMAN VAR_018607 V69F MFN2_HUMAN VAR_018608 L76P MFN2_HUMAN VAR_018609 R94Q MFN2_HUMAN VAR_018610 P251A MFN2_HUMAN VAR_018611 R280H MFN2_HUMAN VAR_018612 W740S MFN2_HUMAN VAR_022464 K357N MGAT2_HUMAN VAR_003415 H262R MGAT2_HUMAN VAR_003416 S290F MGAT2_HUMAN VAR_012343 N318D MIS_HUMAN VAR_007483 V12G MIS_HUMAN VAR_007485 L70P MIS_HUMAN VAR_007486 G101V MIS_HUMAN VAR_007487 R123W MIS_HUMAN VAR_007488 Y167C MIS_HUMAN VAR_007490 R194C MIS_HUMAN VAR_007492 V477A MITF_HUMAN VAR_010297 R310K MITF_HUMAN VAR_010298 N317K MITF_HUMAN VAR_010300 S357P MITF_HUMAN VAR_010301 N385D MITF_HUMAN VAR_010302 S405P MKKS_HUMAN VAR_009864 Y37C MKKS_HUMAN VAR_009866 H84Y MKKS_HUMAN VAR_009867 A242S MKKS_HUMAN VAR_009882 G52D MKKS_HUMAN VAR_009883 T57A MKKS_HUMAN VAR_009884 L277P MKKS_HUMAN VAR_013161 C499S MKKS_HUMAN VAR_017035 I32M MKKS_HUMAN VAR_017036 S236P MKKS_HUMAN VAR_017037 D286A MKKS_HUMAN VAR_017038 S511A MKKS_HUMAN VAR_017039 R518H MKKS_HUMAN VAR_017040 R155L MKKS_HUMAN VAR_017041 I339V MKKS_HUMAN VAR_017042 G345E MLC1_HUMAN VAR_011699 S92L MLC1_HUMAN VAR_011700 T117R MLC1_HUMAN VAR_011701 G211R MLC1_HUMAN VAR_011702 S279L MLC1_HUMAN VAR_012731 L308M MLC1_HUMAN VAR_017438 G58E MLC1_HUMAN VAR_017439 P91S MLC1_HUMAN VAR_017440 N140K MLC1_HUMAN VAR_017441 N140S MLRV_HUMAN VAR_004601 A12T MLRV_HUMAN VAR_004602 F17L MLRV_HUMAN VAR_004603 E21K MLRV_HUMAN VAR_004604 R57Q MLRV_HUMAN VAR_004605 P94A MLRV_HUMAN VAR_019844 D165V MMAA_HUMAN VAR_017202 Y207C MMAA_HUMAN VAR_020835 L89P MMAA_HUMAN VAR_020836 R145Q MMAA_HUMAN VAR_020837 G218E MMAA_HUMAN VAR_020838 R359Q MMAB_HUMAN VAR_017204 A135T MMAB_HUMAN VAR_017206 R191W MMAB_HUMAN VAR_017207 E193K MMAB_HUMAN VAR_023471 I96T MMSA_HUMAN VAR_010244 G446R MOS1A_HUMAN VAR_015658 R73W MOS1A_HUMAN VAR_015659 G126D MOS1A_HUMAN VAR_015660 G127D MOS1A_HUMAN VAR_015661 R319Q MOS1A_HUMAN VAR_015662 G324E MOS2L_HUMAN VAR_012765 E168K MOT1_HUMAN VAR_010434 K204E MOT1_HUMAN VAR_010435 G472R MOT8_HUMAN VAR_022348 A224V MOT8_HUMAN VAR_022349 L471P MOT8_HUMAN VAR_022350 L512P MPU1_HUMAN VAR_021388 G73E MPU1_HUMAN VAR_021389 L74S MPU1_HUMAN VAR_021390 L119P MRE11_HUMAN VAR_008513 N117S MRP2_HUMAN VAR_000099 R768W MRP2_HUMAN VAR_010756 Q1382R MRP2_HUMAN VAR_013327 R1150H MRP2_HUMAN VAR_013328 I1173F MRP6_HUMAN VAR_011491 R1114P MRP6_HUMAN VAR_011492 R1138Q MRP6_HUMAN VAR_011493 R1138W MRP6_HUMAN VAR_011495 R1314W MRP6_HUMAN VAR_013370 T364R MRP6_HUMAN VAR_013371 N411K MRP6_HUMAN VAR_013372 A455P MRP6_HUMAN VAR_013374 R518Q MRP6_HUMAN VAR_013375 F568S MRP6_HUMAN VAR_013377 L673P MRP6_HUMAN VAR_013378 R765Q MRP6_HUMAN VAR_013380 S1121W MRP6_HUMAN VAR_013381 R1138P MRP6_HUMAN VAR_013382 G1203D MRP6_HUMAN VAR_013384 V1298F MRP6_HUMAN VAR_013385 T1301I MRP6_HUMAN VAR_013386 G1302R MRP6_HUMAN VAR_013387 A1303P MRP6_HUMAN VAR_013388 R1314Q MRP6_HUMAN VAR_013389 G1321S MRP6_HUMAN VAR_013390 R1339C MRP6_HUMAN VAR_013391 Q1347H MRP6_HUMAN VAR_013392 G1354R MRP6_HUMAN VAR_013393 D1361N MRP6_HUMAN VAR_013394 I1424T MSX1_HUMAN VAR_003754 R196P MSX1_HUMAN VAR_015712 M61K MSX1_HUMAN VAR_018391 E78V MSX1_HUMAN VAR_018392 G91D MSX1_HUMAN VAR_018393 V114G MSX1_HUMAN VAR_018394 G116E MSX1_HUMAN VAR_018395 R151S MSX2_HUMAN VAR_003755 P148H MSX2_HUMAN VAR_010201 R172H MSX2_HUMAN VAR_010786 L154P MTHR_HUMAN VAR_004319 R52Q MTHR_HUMAN VAR_004320 R157Q MTHR_HUMAN VAR_004321 T227M MTHR_HUMAN VAR_004322 P251L MTHR_HUMAN VAR_004323 R325C MTHR_HUMAN VAR_004324 R335C MTHR_HUMAN VAR_004325 R357C MTHR_HUMAN VAR_009530 R51P MTHR_HUMAN VAR_009531 L323P MTHR_HUMAN VAR_009532 N324S MTHR_HUMAN VAR_009533 W339G MTHR_HUMAN VAR_009534 R377C MTHR_HUMAN VAR_009535 G387D MTHR_HUMAN VAR_009536 P572L MTHR_HUMAN VAR_009537 E586K MTM1_HUMAN VAR_006387 R69C MTM1_HUMAN VAR_006388 L70F MTM1_HUMAN VAR_006389 L87P MTM1_HUMAN VAR_006390 R184G MTM1_HUMAN VAR_006391 N189S MTM1_HUMAN VAR_006392 Y198N MTM1_HUMAN VAR_006393 P205L MTM1_HUMAN VAR_006394 S229P MTM1_HUMAN VAR_006395 R241C MTM1_HUMAN VAR_006396 R241L MTM1_HUMAN VAR_006397 M317R MTM1_HUMAN VAR_006398 S376N MTM1_HUMAN VAR_006399 G378R MTM1_HUMAN VAR_006400 Y397C MTM1_HUMAN VAR_006401 G402A MTM1_HUMAN VAR_006402 E404K MTM1_HUMAN VAR_006403 L406P MTM1_HUMAN VAR_006404 R421Q MTM1_HUMAN VAR_006406 D431N MTM1_HUMAN VAR_006407 D433N MTM1_HUMAN VAR_006408 H469P MTM1_HUMAN VAR_006409 W499R MTM1_HUMAN VAR_009217 P179S MTM1_HUMAN VAR_009218 I225T MTM1_HUMAN VAR_009219 I264S MTM1_HUMAN VAR_009222 K510N MTM1_HUMAN VAR_018227 V49F MTM1_HUMAN VAR_018228 Y68D MTM1_HUMAN VAR_018229 R69P MTM1_HUMAN VAR_018230 R69S MTM1_HUMAN VAR_018231 E157K MTM1_HUMAN VAR_018232 N180K MTM1_HUMAN VAR_018233 R184L MTM1_HUMAN VAR_018234 T186I MTM1_HUMAN VAR_018235 T197I MTM1_HUMAN VAR_018236 P199S MTM1_HUMAN VAR_018237 L202S MTM1_HUMAN VAR_018238 P226T MTM1_HUMAN VAR_018239 V227M MTM1_HUMAN VAR_018240 L228P MTM1_HUMAN VAR_018241 W230C MTM1_HUMAN VAR_018242 H232R MTM1_HUMAN VAR_018243 A279G MTM1_HUMAN VAR_018244 W346C MTM1_HUMAN VAR_018245 W346S MTM1_HUMAN VAR_018246 V364G MTM1_HUMAN VAR_018247 H374D MTM1_HUMAN VAR_018248 G378E MTM1_HUMAN VAR_018249 A389D MTM1_HUMAN VAR_018250 L391P MTM1_HUMAN VAR_018251 G402R MTM1_HUMAN VAR_018252 G402V MTM1_HUMAN VAR_018253 W411C MTM1_HUMAN VAR_018254 C444Y MTM1_HUMAN VAR_018255 L470P MTM1_HUMAN VAR_018256 N481Y MTP_HUMAN VAR_010642 R540H MTP_HUMAN VAR_010643 S590I MTP_HUMAN VAR_010644 G746E MTP_HUMAN VAR_014019 N780Y MTRR_HUMAN VAR_012838 V83M MTRR_HUMAN VAR_012839 A156T MTRR_HUMAN VAR_012841 C432R MTRR_HUMAN VAR_012842 G514R MTRR_HUMAN VAR_015731 G581R MUTA_HUMAN VAR_004409 R93H MUTA_HUMAN VAR_004410 W105R MUTA_HUMAN VAR_004411 A191E MUTA_HUMAN VAR_004412 R228Q MUTA_HUMAN VAR_004413 Y231N MUTA_HUMAN VAR_004414 G312V MUTA_HUMAN VAR_004416 V368D MUTA_HUMAN VAR_004417 R369H MUTA_HUMAN VAR_004418 A377E MUTA_HUMAN VAR_004420 G623R MUTA_HUMAN VAR_004421 G626C MUTA_HUMAN VAR_004422 G630E MUTA_HUMAN VAR_004423 V633G MUTA_HUMAN VAR_004424 G648D MUTA_HUMAN VAR_004425 V669E MUTA_HUMAN VAR_004427 H678R MUTA_HUMAN VAR_004429 L685R MUTA_HUMAN VAR_004430 R694W MUTA_HUMAN VAR_004431 G703R MUTA_HUMAN VAR_004432 G717V MUTA_HUMAN VAR_022393 G94V MUTA_HUMAN VAR_022394 R108H MUTA_HUMAN VAR_022395 A137V MUTA_HUMAN VAR_022396 S148L MUTA_HUMAN VAR_022397 D156N MUTA_HUMAN VAR_022398 G158V MUTA_HUMAN VAR_022399 F174S MUTA_HUMAN VAR_022400 G203R MUTA_HUMAN VAR_022401 G215S MUTA_HUMAN VAR_022402 Q218H MUTA_HUMAN VAR_022403 N219Y MUTA_HUMAN VAR_022404 S262N MUTA_HUMAN VAR_022405 Q293P MUTA_HUMAN VAR_022406 L328F MUTA_HUMAN VAR_022408 A535P MUTA_HUMAN VAR_022409 Y587C MUTA_HUMAN VAR_022410 P615T MUTA_HUMAN VAR_022411 K621N MUTA_HUMAN VAR_022412 Q624R MUTA_HUMAN VAR_022413 H627R MUTA_HUMAN VAR_022414 G637E MUTA_HUMAN VAR_022415 F638I MUTA_HUMAN VAR_022416 D640Y MUTA_HUMAN VAR_022417 G642R MUTA_HUMAN VAR_022418 M700K MUTA_HUMAN VAR_023473 Q109R MUTA_HUMAN VAR_023474 A324T MUTA_HUMAN VAR_023475 L328P MUTA_HUMAN VAR_023476 R616C MUTA_HUMAN VAR_023477 L617R MYF6_HUMAN VAR_004493 A90D MYF6_HUMAN VAR_004494 A112S MYH14_HUMAN VAR_022867 G376C MYH14_HUMAN VAR_022868 R726S MYH14_HUMAN VAR_022869 L976F MYH7_HUMAN VAR_004566 A26V MYH7_HUMAN VAR_004567 V59I MYH7_HUMAN VAR_004568 R143Q MYH7_HUMAN VAR_004570 G256E MYH7_HUMAN VAR_004571 I263T MYH7_HUMAN VAR_004572 M349T MYH7_HUMAN VAR_004573 R403L MYH7_HUMAN VAR_004574 R403Q MYH7_HUMAN VAR_004576 R453C MYH7_HUMAN VAR_004577 F513C MYH7_HUMAN VAR_004578 G584R MYH7_HUMAN VAR_004579 D587V MYH7_HUMAN VAR_004580 N602S MYH7_HUMAN VAR_004581 V606M MYH7_HUMAN VAR_004582 K615N MYH7_HUMAN VAR_004583 G716R MYH7_HUMAN VAR_004584 R719W MYH7_HUMAN VAR_004585 R723C MYH7_HUMAN VAR_004586 P731L MYH7_HUMAN VAR_004587 I736M MYH7_HUMAN VAR_004588 G741R MYH7_HUMAN VAR_004589 G741W MYH7_HUMAN VAR_004590 D778G MYH7_HUMAN VAR_004592 R870H MYH7_HUMAN VAR_004593 L908V MYH7_HUMAN VAR_004594 E924K MYH7_HUMAN VAR_004595 E930K MYH7_HUMAN VAR_004597 E935K MYH7_HUMAN VAR_004598 E949K MYH7_HUMAN VAR_014199 E743D MYH7_HUMAN VAR_017746 A223T MYH7_HUMAN VAR_017747 S532P MYH7_HUMAN VAR_017748 S642L MYH7_HUMAN VAR_017749 R719Q MYH7_HUMAN VAR_017750 A728V MYH7_HUMAN VAR_017751 F764L MYH7_HUMAN VAR_017754 R1845W MYH7_HUMAN VAR_019845 V39M MYH7_HUMAN VAR_019846 T188N MYH7_HUMAN VAR_019847 R204H MYH7_HUMAN VAR_019848 N232S MYH7_HUMAN VAR_019849 A355T MYH7_HUMAN VAR_019850 A428V MYH7_HUMAN VAR_019851 I443T MYH7_HUMAN VAR_019852 N479S MYH7_HUMAN VAR_019853 E483K MYH7_HUMAN VAR_019854 M659I MYH7_HUMAN VAR_019855 R663H MYH7_HUMAN VAR_019856 R663S MYH7_HUMAN VAR_019857 R671C MYH7_HUMAN VAR_019858 G733E MYH7_HUMAN VAR_019859 G768R MYH7_HUMAN VAR_019860 D778E MYH7_HUMAN VAR_019861 R787H MYH7_HUMAN VAR_019862 M852T MYH7_HUMAN VAR_019863 R869G MYH7_HUMAN VAR_019865 L1135R MYH7_HUMAN VAR_019866 E1218Q MYH7_HUMAN VAR_019867 T1377M MYH7_HUMAN VAR_019868 A1379T MYH7_HUMAN VAR_019869 R1382W MYH7_HUMAN VAR_019871 A1777T MYH7_HUMAN VAR_020797 T124I MYH7_HUMAN VAR_020798 Y162C MYH7_HUMAN VAR_020799 N187K MYH7_HUMAN VAR_020800 R190T MYH7_HUMAN VAR_020801 Q222K MYH7_HUMAN VAR_020802 F244L MYH7_HUMAN VAR_020803 V320M MYH7_HUMAN VAR_020804 L390V MYH7_HUMAN VAR_020805 V406M MYH7_HUMAN VAR_020807 Q595R MYH7_HUMAN VAR_020808 L601V MYH7_HUMAN VAR_020809 R694C MYH7_HUMAN VAR_020810 N696S MYH7_HUMAN VAR_020811 R712L MYH7_HUMAN VAR_020812 R723G MYH7_HUMAN VAR_020813 S782N MYH7_HUMAN VAR_020814 E846Q MYH7_HUMAN VAR_020815 R869C MYH7_HUMAN VAR_020816 R870C MYH7_HUMAN VAR_020817 M877K MYH7_HUMAN VAR_020820 E1555K MYH7_HUMAN VAR_020821 S1776G MYH7_HUMAN VAR_022369 R1500P MYH7_HUMAN VAR_022370 A1663P MYH7_HUMAN VAR_022371 L1706P MYH8_HUMAN VAR_019810 R674Q MYH9_HUMAN VAR_010791 N92K MYH9_HUMAN VAR_010792 R701C MYH9_HUMAN VAR_010793 R704H MYH9_HUMAN VAR_010794 T1154I MYH9_HUMAN VAR_010795 R1164C MYH9_HUMAN VAR_010796 D1423H MYH9_HUMAN VAR_010797 E1840K MYH9_HUMAN VAR_018308 A94T MYH9_HUMAN VAR_018309 S95L MYH9_HUMAN VAR_018310 K372N MYH9_HUMAN VAR_018311 R701H MYH9_HUMAN VAR_018312 S1113P MYH9_HUMAN VAR_018313 R1164L MYH9_HUMAN VAR_018316 D1423N MYH9_HUMAN VAR_018317 D1423Y MYL3_HUMAN VAR_004599 M148V MYL3_HUMAN VAR_004600 R153H MYL3_HUMAN VAR_019842 E55G MYL3_HUMAN VAR_019843 E142K MYLK2_HUMAN VAR_014197 A86V MYLK2_HUMAN VAR_014198 A94E MYO15_HUMAN VAR_010303 N2111Y MYO15_HUMAN VAR_010304 I2113F MYO1A_HUMAN VAR_015946 V306M MYO1A_HUMAN VAR_015947 E385D MYO1A_HUMAN VAR_015948 G662E MYO1A_HUMAN VAR_015949 G674D MYO1A_HUMAN VAR_015950 S797F MYO1A_HUMAN VAR_015951 S910P MYO6_HUMAN VAR_012110 C442Y MYO6_HUMAN VAR_016209 E216V MYO7A_HUMAN VAR_009316 G25R MYO7A_HUMAN VAR_009318 R212C MYO7A_HUMAN VAR_009319 R212H MYO7A_HUMAN VAR_009320 G214R MYO7A_HUMAN VAR_009322 R241S MYO7A_HUMAN VAR_009323 R244P MYO7A_HUMAN VAR_009324 R302H MYO7A_HUMAN VAR_009325 A397D MYO7A_HUMAN VAR_009326 E450Q MYO7A_HUMAN VAR_009328 P503L MYO7A_HUMAN VAR_009330 M599I MYO7A_HUMAN VAR_009331 L651P MYO7A_HUMAN VAR_009332 A826T MYO7A_HUMAN VAR_009334 G955S MYO7A_HUMAN VAR_009335 L1087P MYO7A_HUMAN VAR_009336 E1170K MYO7A_HUMAN VAR_009337 R1240Q MYO7A_HUMAN VAR_009338 A1288P MYO7A_HUMAN VAR_009339 R1343S MYO7A_HUMAN VAR_009340 R1602Q MYO7A_HUMAN VAR_009341 A1628S MYO7A_HUMAN VAR_009344 Y1719C MYO7A_HUMAN VAR_009347 G2137E MYO7A_HUMAN VAR_009348 G2163S MYOTI_HUMAN VAR_021569 S55F MYOTI_HUMAN VAR_021570 T57I MYOTI_HUMAN VAR_021571 S60C MYOTI_HUMAN VAR_021572 S60F MYOTI_HUMAN VAR_021573 S95I MYP0_HUMAN VAR_004500 I30M MYP0_HUMAN VAR_004501 V32F MYP0_HUMAN VAR_004502 T34I MYP0_HUMAN VAR_004503 S44F MYP0_HUMAN VAR_004504 S54C MYP0_HUMAN VAR_004505 S54P MYP0_HUMAN VAR_004506 V58F MYP0_HUMAN VAR_004508 S63C MYP0_HUMAN VAR_004509 S63F MYP0_HUMAN VAR_004511 Y68C MYP0_HUMAN VAR_004512 S78L MYP0_HUMAN VAR_004513 H81R MYP0_HUMAN VAR_004514 Y82C MYP0_HUMAN VAR_004515 D90E MYP0_HUMAN VAR_004516 G93E MYP0_HUMAN VAR_004517 K96E MYP0_HUMAN VAR_004518 R98C MYP0_HUMAN VAR_004519 R98H MYP0_HUMAN VAR_004520 R98P MYP0_HUMAN VAR_004521 R98S MYP0_HUMAN VAR_004522 I99T MYP0_HUMAN VAR_004523 W101C MYP0_HUMAN VAR_004524 I112T MYP0_HUMAN VAR_004525 I114T MYP0_HUMAN VAR_004526 N116H MYP0_HUMAN VAR_004528 N122S MYP0_HUMAN VAR_004529 T124M MYP0_HUMAN VAR_004531 C127Y MYP0_HUMAN VAR_004532 D128E MYP0_HUMAN VAR_004533 D128N MYP0_HUMAN VAR_004534 K130R MYP0_HUMAN VAR_004535 P132L MYP0_HUMAN VAR_004536 D134E MYP0_HUMAN VAR_004537 D134N MYP0_HUMAN VAR_004538 I135L MYP0_HUMAN VAR_004539 I135T MYP0_HUMAN VAR_004540 G137S MYP0_HUMAN VAR_004541 T143M MYP0_HUMAN VAR_004542 G163R MYP0_HUMAN VAR_004543 G167A MYP0_HUMAN VAR_004544 G167R MYP0_HUMAN VAR_015971 D35Y MYP0_HUMAN VAR_015972 I62F MYP0_HUMAN VAR_015973 D75V MYP0_HUMAN VAR_015974 I89N MYP0_HUMAN VAR_015975 V92M MYP0_HUMAN VAR_015976 G103E MYP0_HUMAN VAR_015977 G123C MYP0_HUMAN VAR_015978 N131K MYP0_HUMAN VAR_015979 V136E MYP0_HUMAN VAR_015980 I162M MYP0_HUMAN VAR_021609 D118N MYP0_HUMAN VAR_021610 K236E MYPC3_HUMAN VAR_003917 E542Q MYPC3_HUMAN VAR_003919 N755K MYPC3_HUMAN VAR_019889 H257P MYPC3_HUMAN VAR_019890 E258K MYPC3_HUMAN VAR_019891 G278E MYPC3_HUMAN VAR_019892 G279A MYPC3_HUMAN VAR_019893 R326Q MYPC3_HUMAN VAR_019894 L352P MYPC3_HUMAN VAR_019895 R502W MYPC3_HUMAN VAR_019897 K811R MYPC3_HUMAN VAR_019898 A833V MYPC3_HUMAN VAR_019899 V896M MYPC3_HUMAN VAR_019900 A1194T MYPC3_HUMAN VAR_019901 A1255T MYPR_HUMAN VAR_004546 P14L MYPR_HUMAN VAR_004547 T42I MYPR_HUMAN VAR_004548 G73R MYPR_HUMAN VAR_004551 H139Y MYPR_HUMAN VAR_004552 T155I MYPR_HUMAN VAR_004553 W162R MYPR_HUMAN VAR_004554 V165E MYPR_HUMAN VAR_004555 T181P MYPR_HUMAN VAR_004556 I186T MYPR_HUMAN VAR_004557 D202H MYPR_HUMAN VAR_004558 P215S MYPR_HUMAN VAR_004559 G216S MYPR_HUMAN VAR_004560 V218F MYPR_HUMAN VAR_004561 G220C MYPR_HUMAN VAR_004562 L223P MYPR_HUMAN VAR_004563 F236S MYPR_HUMAN VAR_004565 A248P MYPR_HUMAN VAR_007956 D202V MYPR_HUMAN VAR_015014 L30P MYPR_HUMAN VAR_015015 F31L MYPR_HUMAN VAR_015016 F31V MYPR_HUMAN VAR_015017 C34Y MYPR_HUMAN VAR_015018 A38T MYPR_HUMAN VAR_015020 L45R MYPR_HUMAN VAR_015021 F50S MYPR_HUMAN VAR_015022 Y59C MYPR_HUMAN VAR_015023 T115K MYPR_HUMAN VAR_015024 H129Y MYPR_HUMAN VAR_015025 H147Y MYPR_HUMAN VAR_015026 K150N MYPR_HUMAN VAR_015028 C168R MYPR_HUMAN VAR_015029 S169F MYPR_HUMAN VAR_015030 V171A MYPR_HUMAN VAR_015031 Y174C MYPR_HUMAN VAR_015032 W180C MYPR_HUMAN VAR_015033 T182N MYPR_HUMAN VAR_015034 D202E MYPR_HUMAN VAR_015035 D202G MYPR_HUMAN VAR_015036 D202N MYPR_HUMAN VAR_015037 R204G MYPR_HUMAN VAR_015038 Y206C MYPR_HUMAN VAR_015039 V208D MYPR_HUMAN VAR_015040 L209H MYPR_HUMAN VAR_015041 P210L MYPR_HUMAN VAR_015042 W211R MYPR_HUMAN VAR_015043 P215A MYPR_HUMAN VAR_015044 C219Y MYPR_HUMAN VAR_015046 S225P MYPR_HUMAN VAR_015047 C227Y MYPR_HUMAN VAR_015048 Q233P MYPR_HUMAN VAR_015049 A241P MYPR_HUMAN VAR_015050 G245E MYPR_HUMAN VAR_015051 A247E MYPR_HUMAN VAR_015052 S252F NAGAB_HUMAN VAR_000496 S160C NAGAB_HUMAN VAR_000497 E325K NAGAB_HUMAN VAR_000498 R329W NAGAB_HUMAN VAR_022525 R329Q NAGS_HUMAN VAR_023505 C200R NAGS_HUMAN VAR_023506 A279P NAGS_HUMAN VAR_023507 S410P NAGS_HUMAN VAR_023508 L430P NAGS_HUMAN VAR_023509 W484R NAGS_HUMAN VAR_023510 A518T NCB5R_HUMAN VAR_004619 R57Q NCB5R_HUMAN VAR_004620 V105M NCB5R_HUMAN VAR_004621 S127P NCB5R_HUMAN VAR_004622 L148P NCB5R_HUMAN VAR_010750 L72P NCB5R_HUMAN VAR_010752 A178V NCB5R_HUMAN VAR_010753 C203R NCB5R_HUMAN VAR_010754 C203Y NCF1_HUMAN VAR_012476 R42Q NCF2_HUMAN VAR_008904 G78E NCF2_HUMAN VAR_008905 R395W NCF2_HUMAN VAR_017388 R77Q NCF2_HUMAN VAR_017389 A128V NCPR_HUMAN VAR_021154 Y177D NCPR_HUMAN VAR_021155 A283P NCPR_HUMAN VAR_021156 R453H NCPR_HUMAN VAR_021157 V488E NCPR_HUMAN VAR_021158 C565Y NCPR_HUMAN VAR_021159 Y574C NCPR_HUMAN VAR_021160 V604F NDF1_HUMAN VAR_012487 R111L NDP_HUMAN VAR_005478 L13R NDP_HUMAN VAR_005479 C39R NDP_HUMAN VAR_005480 R41K NDP_HUMAN VAR_005481 H42R NDP_HUMAN VAR_005482 Y44C NDP_HUMAN VAR_005483 K58N NDP_HUMAN VAR_005484 V60E NDP_HUMAN VAR_005485 L61F NDP_HUMAN VAR_005486 L61P NDP_HUMAN VAR_005487 A63D NDP_HUMAN VAR_005488 C65Y NDP_HUMAN VAR_005489 C69S NDP_HUMAN VAR_005490 C65W NDP_HUMAN VAR_005491 R74C NDP_HUMAN VAR_005492 S75C NDP_HUMAN VAR_005493 S75H NDP_HUMAN VAR_005494 R90P NDP_HUMAN VAR_005496 C96Y NDP_HUMAN VAR_005497 S101F NDP_HUMAN VAR_005498 K104Q NDP_HUMAN VAR_005499 Y120C NDP_HUMAN VAR_005500 R121G NDP_HUMAN VAR_005501 R121Q NDP_HUMAN VAR_005502 R121W NDP_HUMAN VAR_005504 I123N NDP_HUMAN VAR_005505 L124F NDP_HUMAN VAR_009275 C96W NDP_HUMAN VAR_016048 L16P NDP_HUMAN VAR_016049 S75P NDP_HUMAN VAR_016050 A105T NDP_HUMAN VAR_016051 C110G NEC1_HUMAN VAR_022778 G483R NELF_HUMAN VAR_023003 T480A NEMO_HUMAN VAR_009182 M407V NEMO_HUMAN VAR_011320 R175P NEMO_HUMAN VAR_011321 L227P NEMO_HUMAN VAR_011322 A288G NEMO_HUMAN VAR_011323 D311N NEMO_HUMAN VAR_011324 D406V NEMO_HUMAN VAR_011325 C417F NEMO_HUMAN VAR_011326 C417R NEU2_HUMAN VAR_004980 S17F NEU2_HUMAN VAR_004981 A19T NEU2_HUMAN VAR_004982 A19V NEU2_HUMAN VAR_004983 G45R NEU2_HUMAN VAR_004984 G48V NEU2_HUMAN VAR_004985 R51C NEU2_HUMAN VAR_004986 P55L NEU2_HUMAN VAR_004988 E78G NEU2_HUMAN VAR_004989 L81P NEU2_HUMAN VAR_004990 G88R NEU2_HUMAN VAR_004991 G88S NEU2_HUMAN VAR_004992 C92S NEU2_HUMAN VAR_004993 G93W NEU2_HUMAN VAR_004994 G96C NEU2_HUMAN VAR_015262 Y21H NEU2_HUMAN VAR_015263 P26L NEU2_HUMAN VAR_015264 C52R NEU2_HUMAN VAR_015265 G54R NEU2_HUMAN VAR_015266 G54V NEU2_HUMAN VAR_015267 C59R NEU2_HUMAN VAR_015268 C59Y NEU2_HUMAN VAR_015269 S87F NEU2_HUMAN VAR_015270 C92Y NEU2_HUMAN VAR_015271 G96V NEU2_HUMAN VAR_015272 R97C NEU2_HUMAN VAR_015273 R97P NEU2_HUMAN VAR_015274 C98G NEU2_HUMAN VAR_015275 C104F NEU2_HUMAN VAR_015276 C105R NEU2_HUMAN VAR_015277 C116G NEU2_HUMAN VAR_015278 C116R NEU2_HUMAN VAR_015279 C105Y NEU2_HUMAN VAR_019273 V67A NEU2_HUMAN VAR_019274 G96D NEU2_HUMAN VAR_019275 C104G NEU2_HUMAN VAR_019276 C116W NEUR1_HUMAN VAR_012207 V54M NEUR1_HUMAN VAR_012208 G68V NEUR1_HUMAN VAR_012209 L91R NEUR1_HUMAN VAR_012210 S182G NEUR1_HUMAN VAR_012211 V217M NEUR1_HUMAN VAR_012212 G219A NEUR1_HUMAN VAR_012213 G227R NEUR1_HUMAN VAR_012214 L231H NEUR1_HUMAN VAR_012215 W240R NEUR1_HUMAN VAR_012216 G243R NEUR1_HUMAN VAR_012217 F260Y NEUR1_HUMAN VAR_012218 L270P NEUR1_HUMAN VAR_012219 L270F NEUR1_HUMAN VAR_012220 R294S NEUR1_HUMAN VAR_012221 A298V NEUR1_HUMAN VAR_012222 G328S NEUR1_HUMAN VAR_012223 P335Q NEUR1_HUMAN VAR_012224 L363P NEUR1_HUMAN VAR_012225 Y370C NEUR1_HUMAN VAR_017460 P80L NEUR1_HUMAN VAR_017461 P316S NEUR1_HUMAN VAR_018076 R225P NEUR1_HUMAN VAR_018077 R341G NEUS_HUMAN VAR_008520 S49P NEUS_HUMAN VAR_008521 S52R NF1_HUMAN VAR_002653 G629R NF1_HUMAN VAR_002654 L844R NF1_HUMAN VAR_002655 L898P NF1_HUMAN VAR_002657 M1035R NF1_HUMAN VAR_002658 K1440R NF1_HUMAN VAR_002659 K1444E NF1_HUMAN VAR_002660 R1611W NF1_HUMAN VAR_002662 W1952R NF1_HUMAN VAR_002663 L1953P NF1_HUMAN VAR_002664 L2164M NF1_HUMAN VAR_002665 Y2192N NF1_HUMAN VAR_002667 T2631A NF1_HUMAN VAR_008129 L1446P NF1_HUMAN VAR_010989 I117S NF1_HUMAN VAR_010990 D338G NF1_HUMAN VAR_010991 L508P NF1_HUMAN VAR_010992 L844F NF1_HUMAN VAR_010993 G1166D NF1_HUMAN VAR_010994 R1204W NF1_HUMAN VAR_010995 R1276P NF1_HUMAN VAR_010996 R1412S NF1_HUMAN VAR_010997 K1440Q NF1_HUMAN VAR_010998 S1489G NF1_HUMAN VAR_017551 C93Y NF1_HUMAN VAR_017553 L604V NF1_HUMAN VAR_017555 R1276Q NF1_HUMAN VAR_017669 L2088P NF1_HUMAN VAR_021730 S82F NF1_HUMAN VAR_021731 I157N NF1_HUMAN VAR_021732 L216P NF1_HUMAN VAR_021733 L357P NF1_HUMAN VAR_021734 Y491C NF1_HUMAN VAR_021735 L549P NF1_HUMAN VAR_021736 L578R NF1_HUMAN VAR_021737 I581T NF1_HUMAN VAR_021738 K583R NF1_HUMAN VAR_021739 S665F NF1_HUMAN VAR_021740 L695P NF1_HUMAN VAR_021741 L763P NF1_HUMAN VAR_021743 W777S NF1_HUMAN VAR_021744 T780K NF1_HUMAN VAR_021745 H781P NF1_HUMAN VAR_021746 W784C NF1_HUMAN VAR_021747 W784R NF1_HUMAN VAR_021748 L847P NF1_HUMAN VAR_021749 G848E NF1_HUMAN VAR_021750 L920P NF1_HUMAN VAR_021751 M968R NF1_HUMAN VAR_021752 L1147P NF1_HUMAN VAR_021753 N1156S NF1_HUMAN VAR_021754 F1193C NF1_HUMAN VAR_021755 R1204G NF1_HUMAN VAR_021756 R1250P NF1_HUMAN VAR_021757 K1444N NF1_HUMAN VAR_021758 K1444R NF1_HUMAN VAR_021759 I1605V NF1_HUMAN VAR_021760 A1785S NF1_HUMAN VAR_021762 G2001R NF1_HUMAN VAR_021763 D2012N NF1_HUMAN VAR_021764 P2221A NF1_HUMAN VAR_021765 E2357K NF1_HUMAN VAR_021766 T2507I NFL_HUMAN VAR_009703 Q331P NFL_HUMAN VAR_016018 P7L NFL_HUMAN VAR_016019 P7Q NFL_HUMAN VAR_016020 P7R NFL_HUMAN VAR_016021 P21S NFL_HUMAN VAR_016022 E89K NFL_HUMAN VAR_016023 N97S NFL_HUMAN VAR_021613 L335P NFL_HUMAN VAR_021614 E395K NHLC1_HUMAN VAR_019482 C26S NHLC1_HUMAN VAR_019483 F33S NHLC1_HUMAN VAR_019484 P69A NHLC1_HUMAN VAR_019485 L87P NHLC1_HUMAN VAR_019487 D146N NHLC1_HUMAN VAR_019488 Q302P NIPA1_HUMAN VAR_023440 T45R NIPA1_HUMAN VAR_023441 G106R NIPBL_HUMAN VAR_019519 C1311R NIPBL_HUMAN VAR_019520 L1348R NIPBL_HUMAN VAR_019521 Y2430C NIPBL_HUMAN VAR_021598 A1246G NIPBL_HUMAN VAR_021599 L1312P NIPBL_HUMAN VAR_021600 R1789L NIPBL_HUMAN VAR_021601 D1803V NIPBL_HUMAN VAR_021602 R1856T NIPBL_HUMAN VAR_021603 R2298C NIPBL_HUMAN VAR_021604 R2298H NIPBL_HUMAN VAR_021605 G2312R NIPBL_HUMAN VAR_021606 G2381A NIPBL_HUMAN VAR_021607 A2390T NIPBL_HUMAN VAR_021608 Y2440H NKX25_HUMAN VAR_003752 T178M NKX25_HUMAN VAR_010116 R25C NKX25_HUMAN VAR_010117 N188K NKX25_HUMAN VAR_010118 R189G NKX25_HUMAN VAR_010119 Y191C NLGN3_HUMAN VAR_015668 R451C NODAL_HUMAN VAR_015111 R183Q NOGG_HUMAN VAR_011361 P35R NOGG_HUMAN VAR_011362 G189C NOGG_HUMAN VAR_011363 W217G NOGG_HUMAN VAR_011364 I220N NOGG_HUMAN VAR_011365 Y222C NOGG_HUMAN VAR_011366 Y222D NOGG_HUMAN VAR_011367 P223L NOGG_HUMAN VAR_018324 P35S NOGG_HUMAN VAR_018325 C184Y NOGG_HUMAN VAR_018326 R204L NOTC3_HUMAN VAR_012871 C49Y NOTC3_HUMAN VAR_012872 W71C NOTC3_HUMAN VAR_012873 R90C NOTC3_HUMAN VAR_012874 R110C NOTC3_HUMAN VAR_012876 R133C NOTC3_HUMAN VAR_012877 R141C NOTC3_HUMAN VAR_012878 C146R NOTC3_HUMAN VAR_012879 R153C NOTC3_HUMAN VAR_012880 R169C NOTC3_HUMAN VAR_012882 G171C NOTC3_HUMAN VAR_012883 R182C NOTC3_HUMAN VAR_012884 C185R NOTC3_HUMAN VAR_012885 C212S NOTC3_HUMAN VAR_012886 C222G NOTC3_HUMAN VAR_012887 C224Y NOTC3_HUMAN VAR_012888 Y258C NOTC3_HUMAN VAR_012890 C542Y NOTC3_HUMAN VAR_012891 R558C NOTC3_HUMAN VAR_012892 R578C NOTC3_HUMAN VAR_012893 R728C NOTC3_HUMAN VAR_012894 R985C NOTC3_HUMAN VAR_012895 R1006C NOTC3_HUMAN VAR_012896 R1031C NOTC3_HUMAN VAR_012899 R1231C NOTC3_HUMAN VAR_012900 C1261R NPC1_HUMAN VAR_008815 C177G NPC1_HUMAN VAR_008817 P237S NPC1_HUMAN VAR_008820 S473P NPC1_HUMAN VAR_008821 H510P NPC1_HUMAN VAR_008822 R518Q NPC1_HUMAN VAR_008826 V889M NPC1_HUMAN VAR_008827 Q928P NPC1_HUMAN VAR_008828 R934Q NPC1_HUMAN VAR_008829 S940L NPC1_HUMAN VAR_008830 D948N NPC1_HUMAN VAR_008831 S954L NPC1_HUMAN VAR_008832 C956Y NPC1_HUMAN VAR_008833 G992W NPC1_HUMAN VAR_008834 P1007A NPC1_HUMAN VAR_008835 T1036M NPC1_HUMAN VAR_008836 I1061T NPC1_HUMAN VAR_008837 Y1088C NPC1_HUMAN VAR_008838 N1156S NPC1_HUMAN VAR_008839 F1167L NPC1_HUMAN VAR_008840 R1186H NPC1_HUMAN VAR_008841 L1213F NPC1_HUMAN VAR_008842 L1213V NPC1_HUMAN VAR_015561 C177Y NPC1_HUMAN VAR_015562 V378A NPC1_HUMAN VAR_015563 V950M NPC1_HUMAN VAR_015564 R958Q NPC1_HUMAN VAR_015565 R978C NPC1_HUMAN VAR_015566 G992R NPC1_HUMAN VAR_015567 A1035V NPC2_HUMAN VAR_015848 V39M NPH4_HUMAN VAR_015186 F991S NPH4_HUMAN VAR_015214 G754R NPH4_HUMAN VAR_022526 D3Y NPH4_HUMAN VAR_022528 F91L NPH4_HUMAN VAR_022529 R342C NPH4_HUMAN VAR_022530 R469W NPH4_HUMAN VAR_022533 T627M NPH4_HUMAN VAR_022534 A654G NPH4_HUMAN VAR_022535 R735W NPH4_HUMAN VAR_022538 Q766R NPH4_HUMAN VAR_022539 P776R NPH4_HUMAN VAR_022540 H782Q NPH4_HUMAN VAR_022542 T946A NPH4_HUMAN VAR_022543 R961H NPH4_HUMAN VAR_022544 A1098T NPH4_HUMAN VAR_022545 R1192W NPH4_HUMAN VAR_022546 T1225M NPH4_HUMAN VAR_022547 R1284C NPH4_HUMAN VAR_022548 Q1287E NPHP1_HUMAN VAR_012160 G342R NPHP3_HUMAN VAR_022815 S360T NPHP3_HUMAN VAR_022816 N386S NPHP3_HUMAN VAR_022817 R397H NPHP3_HUMAN VAR_022818 L1141P NPHP3_HUMAN VAR_022819 A1221V NPHP3_HUMAN VAR_022820 S1252R NPHP3_HUMAN VAR_022821 S1314T NR2E3_HUMAN VAR_009266 R76Q NR2E3_HUMAN VAR_009267 R76W NR2E3_HUMAN VAR_010025 R97H NR2E3_HUMAN VAR_010026 R104W NR2E3_HUMAN VAR_010027 E121K NR2E3_HUMAN VAR_010031 W234S NR2E3_HUMAN VAR_010033 R309G NR2E3_HUMAN VAR_010034 R311Q NR2E3_HUMAN VAR_010035 R385P NR2E3_HUMAN VAR_010036 M407K NR2E3_HUMAN VAR_020839 G88V NR2E3_HUMAN VAR_020840 A256E NR2E3_HUMAN VAR_020841 L263P NR2E3_HUMAN VAR_020842 L336P NR2E3_HUMAN VAR_020843 L353V NSD1_HUMAN VAR_015780 H1616L NSD1_HUMAN VAR_015781 L1637P NSD1_HUMAN VAR_015782 C1674W NSD1_HUMAN VAR_015783 I1687N NSD1_HUMAN VAR_015784 G1792V NSD1_HUMAN VAR_015785 C1925R NSD1_HUMAN VAR_015786 G1955D NSD1_HUMAN VAR_015787 R1984Q NSD1_HUMAN VAR_015788 Y1997C NSD1_HUMAN VAR_015789 R2005Q NSD1_HUMAN VAR_015790 R2017Q NSD1_HUMAN VAR_015791 R2017W NSD1_HUMAN VAR_015792 H2143Q NSD1_HUMAN VAR_015793 C2183S NSDHL_HUMAN VAR_010207 A105V NSDHL_HUMAN VAR_010208 G205S NTCP2_HUMAN VAR_004614 L243P NTCP2_HUMAN VAR_004615 T262M NTCP2_HUMAN VAR_004616 P290S NTRK1_HUMAN VAR_004103 G577R NTRK1_HUMAN VAR_009624 L93P NTRK1_HUMAN VAR_009625 L213P NTRK1_HUMAN VAR_009626 G522R NTRK1_HUMAN VAR_009627 M587V NTRK1_HUMAN VAR_009630 R649W NTRK1_HUMAN VAR_009631 R654C NTRK1_HUMAN VAR_009632 D674Y NTRK1_HUMAN VAR_009633 P695L NTRK1_HUMAN VAR_009634 G714S NTRK1_HUMAN VAR_009635 R780P NU1M_HUMAN VAR_004747 A4T NU1M_HUMAN VAR_004748 Y30H NU1M_HUMAN VAR_004749 M31T NU1M_HUMAN VAR_004750 M31V NU1M_HUMAN VAR_004751 A52T NU1M_HUMAN VAR_004753 L285P NU1M_HUMAN VAR_004754 Y304H NU2M_HUMAN VAR_004755 N150D NU2M_HUMAN VAR_004756 G259S NU2M_HUMAN VAR_004758 A331S NU4LM_HUMAN VAR_008397 V65A NU4M_HUMAN VAR_004759 T109A NU4M_HUMAN VAR_004760 R340H NU4M_HUMAN VAR_008393 V313I NU5M_HUMAN VAR_004761 A458T NU5M_HUMAN VAR_004762 G465E NU6M_HUMAN VAR_004763 M64V NU6M_HUMAN VAR_004764 A72V NU6M_HUMAN VAR_008394 I26M NU6M_HUMAN VAR_008395 G36S NU6M_HUMAN VAR_008396 Y59C NU6M_HUMAN VAR_008512 M64I NU6M_HUMAN VAR_014396 L60S NU6M_HUMAN VAR_014397 A74V NUBM_HUMAN VAR_008846 A341V NUBM_HUMAN VAR_008847 T423M NUIM_HUMAN VAR_019538 P79L NUIM_HUMAN VAR_019539 R102H NUKM_HUMAN VAR_008848 V122M NYX_HUMAN VAR_013867 C31S NYX_HUMAN VAR_013868 A143P NYX_HUMAN VAR_013869 P151L NYX_HUMAN VAR_013870 P175R NYX_HUMAN VAR_013871 L184P NYX_HUMAN VAR_013872 A187K NYX_HUMAN VAR_013873 L213Q NYX_HUMAN VAR_013874 N216S NYX_HUMAN VAR_013875 L232P NYX_HUMAN VAR_013876 N264K NYX_HUMAN VAR_013877 L285P NYX_HUMAN VAR_013878 F298S NYX_HUMAN VAR_013879 L307P NYX_HUMAN VAR_013880 N312S NYX_HUMAN VAR_013881 L347P NYX_HUMAN VAR_013882 G370V OAT_HUMAN VAR_000565 N54K OAT_HUMAN VAR_000566 Y55H OAT_HUMAN VAR_000567 N89K OAT_HUMAN VAR_000568 C93F OAT_HUMAN VAR_000569 R154L OAT_HUMAN VAR_000570 R180T OAT_HUMAN VAR_000572 A226V OAT_HUMAN VAR_000573 P241L OAT_HUMAN VAR_000574 Y245C OAT_HUMAN VAR_000575 R250P OAT_HUMAN VAR_000576 T267I OAT_HUMAN VAR_000577 A270P OAT_HUMAN VAR_000578 R271K OAT_HUMAN VAR_000579 H319Y OAT_HUMAN VAR_000580 V332M OAT_HUMAN VAR_000581 G353D OAT_HUMAN VAR_000582 G375A OAT_HUMAN VAR_000583 C394R OAT_HUMAN VAR_000584 L402P OAT_HUMAN VAR_000585 P417L OAT_HUMAN VAR_015648 Q90E OCRL_HUMAN VAR_010169 R337P OCRL_HUMAN VAR_010170 G357E OCRL_HUMAN VAR_010172 V372G OCRL_HUMAN VAR_010173 H375Y OCRL_HUMAN VAR_010174 G421E OCRL_HUMAN VAR_010175 N424D OCRL_HUMAN VAR_010176 D451G OCRL_HUMAN VAR_010177 F463S OCRL_HUMAN VAR_010178 C498Y OCRL_HUMAN VAR_010179 R500G OCRL_HUMAN VAR_010180 R500Q OCRL_HUMAN VAR_010181 V508D OCRL_HUMAN VAR_010182 Y513C OCRL_HUMAN VAR_010183 S522R OCRL_HUMAN VAR_010184 H524Q OCRL_HUMAN VAR_010185 H524R OCRL_HUMAN VAR_010186 P526F OCRL_HUMAN VAR_010187 I533S OCRL_HUMAN VAR_010188 I768N OCRL_HUMAN VAR_010189 A797P OCRL_HUMAN VAR_022698 R318C OCRL_HUMAN VAR_022699 Y479C OCTN2_HUMAN VAR_009252 R169Q OCTN2_HUMAN VAR_009253 Y211C OCTN2_HUMAN VAR_009254 W283R OCTN2_HUMAN VAR_009255 V446F OCTN2_HUMAN VAR_009256 E452K OCTN2_HUMAN VAR_009257 P478L OCTN2_HUMAN VAR_022564 M179L OCTN2_HUMAN VAR_022565 W283C OCTN2_HUMAN VAR_022566 S467C ODB2_HUMAN VAR_004978 F276C ODB2_HUMAN VAR_015099 I98M ODB2_HUMAN VAR_015100 G384S ODBA_HUMAN VAR_004968 R159W ODBA_HUMAN VAR_004969 Q190K ODBA_HUMAN VAR_004970 A253T ODBA_HUMAN VAR_004971 I326T ODBA_HUMAN VAR_004972 Y413C ODBA_HUMAN VAR_004973 Y438N ODBA_HUMAN VAR_015101 G290R ODBA_HUMAN VAR_015102 F409C ODBB_HUMAN VAR_004974 H206R ODPA_HUMAN VAR_004949 R72C ODPA_HUMAN VAR_004950 H113D ODPA_HUMAN VAR_004951 G162R ODPA_HUMAN VAR_004952 V167M ODPA_HUMAN VAR_004953 A199T ODPA_HUMAN VAR_004955 M210V ODPA_HUMAN VAR_004956 P217L ODPA_HUMAN VAR_004957 T231A ODPA_HUMAN VAR_004959 R263G ODPA_HUMAN VAR_004960 R263Q ODPA_HUMAN VAR_004961 H292L ODPA_HUMAN VAR_004962 R302C ODPA_HUMAN VAR_004963 R302H ODPA_HUMAN VAR_010238 R10P ODPA_HUMAN VAR_021053 Y243N ODPA_HUMAN VAR_021055 R288H ODPA_HUMAN VAR_021056 D315N ODPB_HUMAN VAR_021057 Y132C ODPB_HUMAN VAR_021058 P344S OFD1_HUMAN VAR_013754 S435R OFD1_HUMAN VAR_015574 S74F OPA1_HUMAN VAR_011483 R290Q OPA1_HUMAN VAR_011484 G300E OPA1_HUMAN VAR_015741 R445H OPA1_HUMAN VAR_022927 L396R OPA1_HUMAN VAR_022928 T503K OPA1_HUMAN VAR_022929 R571H OPSB_HUMAN VAR_004838 G79R OPSB_HUMAN VAR_004839 S214P OPSB_HUMAN VAR_004840 P264S OPSD_HUMAN VAR_004765 T4K OPSD_HUMAN VAR_004766 N15S OPSD_HUMAN VAR_004767 T17M OPSD_HUMAN VAR_004768 P23H OPSD_HUMAN VAR_004769 P23L OPSD_HUMAN VAR_004770 Q28H OPSD_HUMAN VAR_004771 L40R OPSD_HUMAN VAR_004772 M44T OPSD_HUMAN VAR_004773 F45L OPSD_HUMAN VAR_004774 L46R OPSD_HUMAN VAR_004776 G51R OPSD_HUMAN VAR_004777 G51V OPSD_HUMAN VAR_004778 P53R OPSD_HUMAN VAR_004779 T58R OPSD_HUMAN VAR_004781 V87D OPSD_HUMAN VAR_004782 G89D OPSD_HUMAN VAR_004783 G90D OPSD_HUMAN VAR_004784 T94I OPSD_HUMAN VAR_004786 G106R OPSD_HUMAN VAR_004787 G106W OPSD_HUMAN VAR_004788 G109R OPSD_HUMAN VAR_004789 C110F OPSD_HUMAN VAR_004790 C110Y OPSD_HUMAN VAR_004791 G114D OPSD_HUMAN VAR_004792 L125R OPSD_HUMAN VAR_004793 S127F OPSD_HUMAN VAR_004794 L131P OPSD_HUMAN VAR_004795 R135G OPSD_HUMAN VAR_004796 R135L OPSD_HUMAN VAR_004797 R135W OPSD_HUMAN VAR_004798 C140S OPSD_HUMAN VAR_004799 E150K OPSD_HUMAN VAR_004800 A164E OPSD_HUMAN VAR_004801 A164V OPSD_HUMAN VAR_004802 C167R OPSD_HUMAN VAR_004803 P171L OPSD_HUMAN VAR_004804 P171Q OPSD_HUMAN VAR_004805 P171S OPSD_HUMAN VAR_004806 Y178C OPSD_HUMAN VAR_004807 Y178N OPSD_HUMAN VAR_004808 E181K OPSD_HUMAN VAR_004809 G182S OPSD_HUMAN VAR_004810 S186P OPSD_HUMAN VAR_004811 G188E OPSD_HUMAN VAR_004812 G188R OPSD_HUMAN VAR_004813 D190N OPSD_HUMAN VAR_004814 D190G OPSD_HUMAN VAR_004815 D190Y OPSD_HUMAN VAR_004816 M207R OPSD_HUMAN VAR_004818 H211P OPSD_HUMAN VAR_004819 H211R OPSD_HUMAN VAR_004820 M216K OPSD_HUMAN VAR_004821 F220C OPSD_HUMAN VAR_004822 C222R OPSD_HUMAN VAR_004825 P267L OPSD_HUMAN VAR_004826 P267R OPSD_HUMAN VAR_004827 A292E OPSD_HUMAN VAR_004828 K296E OPSD_HUMAN VAR_004829 S297R OPSD_HUMAN VAR_004830 T342M OPSD_HUMAN VAR_004831 V345L OPSD_HUMAN VAR_004832 V345M OPSD_HUMAN VAR_004833 P347A OPSD_HUMAN VAR_004834 P347L OPSD_HUMAN VAR_004835 P347Q OPSD_HUMAN VAR_004836 P347R OPSD_HUMAN VAR_004837 P347S OPSG_HUMAN VAR_004841 C203R OPSR_HUMAN VAR_009298 C203R OPSR_HUMAN VAR_009299 P307L OREX_HUMAN VAR_011633 L16R ORNT1_HUMAN VAR_012757 G27E ORNT1_HUMAN VAR_012758 G27R ORNT1_HUMAN VAR_012759 P126R ORNT1_HUMAN VAR_012760 E180K ORNT1_HUMAN VAR_012762 G190D ORNT1_HUMAN VAR_012764 R275Q OTC_HUMAN VAR_004843 R26Q OTC_HUMAN VAR_004844 G39C OTC_HUMAN VAR_004845 R40C OTC_HUMAN VAR_004846 R40H OTC_HUMAN VAR_004848 T44I OTC_HUMAN VAR_004849 L45P OTC_HUMAN VAR_004850 L45V OTC_HUMAN VAR_004852 N47I OTC_HUMAN VAR_004853 G50R OTC_HUMAN VAR_004854 Y55D OTC_HUMAN VAR_004855 M56T OTC_HUMAN VAR_004856 S60L OTC_HUMAN VAR_004857 L63P OTC_HUMAN VAR_004858 G79E OTC_HUMAN VAR_004860 G83D OTC_HUMAN VAR_004861 G83R OTC_HUMAN VAR_004862 E87K OTC_HUMAN VAR_004863 K88N OTC_HUMAN VAR_004864 S90R OTC_HUMAN VAR_004865 R92Q OTC_HUMAN VAR_004866 T93A OTC_HUMAN VAR_004867 R94T OTC_HUMAN VAR_004868 G100D OTC_HUMAN VAR_004870 A102E OTC_HUMAN VAR_004872 H117L OTC_HUMAN VAR_004873 H117R OTC_HUMAN VAR_004874 T125M OTC_HUMAN VAR_004875 D126G OTC_HUMAN VAR_004876 R129H OTC_HUMAN VAR_004877 L139S OTC_HUMAN VAR_004878 R141P OTC_HUMAN VAR_004879 R141Q OTC_HUMAN VAR_004880 L148F OTC_HUMAN VAR_004881 I159T OTC_HUMAN VAR_004882 N161S OTC_HUMAN VAR_004883 G162R OTC_HUMAN VAR_004884 H168Q OTC_HUMAN VAR_004885 H168R OTC_HUMAN VAR_004886 I172M OTC_HUMAN VAR_004887 A174P OTC_HUMAN VAR_004888 D175V OTC_HUMAN VAR_004889 Y176C OTC_HUMAN VAR_004890 T178M OTC_HUMAN VAR_004892 Q180H OTC_HUMAN VAR_004893 E181G OTC_HUMAN VAR_004894 H182L OTC_HUMAN VAR_004895 Y183C OTC_HUMAN VAR_004896 Y183D OTC_HUMAN VAR_004897 G188R OTC_HUMAN VAR_004898 S192R OTC_HUMAN VAR_004899 G195R OTC_HUMAN VAR_004900 D196V OTC_HUMAN VAR_004901 D196Y OTC_HUMAN VAR_004902 G197E OTC_HUMAN VAR_004903 L201P OTC_HUMAN VAR_004904 H202Y OTC_HUMAN VAR_004905 S203C OTC_HUMAN VAR_004906 M206R OTC_HUMAN VAR_004907 S207R OTC_HUMAN VAR_004908 A208T OTC_HUMAN VAR_004909 A209V OTC_HUMAN VAR_004910 M213K OTC_HUMAN VAR_004911 Q216E OTC_HUMAN VAR_004912 P220A OTC_HUMAN VAR_004913 P225L OTC_HUMAN VAR_004914 P225R OTC_HUMAN VAR_004915 P225T OTC_HUMAN VAR_004916 T242I OTC_HUMAN VAR_004917 L244Q OTC_HUMAN VAR_004918 T247K OTC_HUMAN VAR_004919 H255P OTC_HUMAN VAR_004920 D263G OTC_HUMAN VAR_004921 D263N OTC_HUMAN VAR_004922 T264A OTC_HUMAN VAR_004923 T264I OTC_HUMAN VAR_004924 S267R OTC_HUMAN VAR_004925 M268T OTC_HUMAN VAR_004926 G269E OTC_HUMAN VAR_004929 R277Q OTC_HUMAN VAR_004930 R277W OTC_HUMAN VAR_004931 H302L OTC_HUMAN VAR_004932 H302Q OTC_HUMAN VAR_004933 H302Y OTC_HUMAN VAR_004934 C303R OTC_HUMAN VAR_004935 C303Y OTC_HUMAN VAR_004936 L304F OTC_HUMAN VAR_004938 R320L OTC_HUMAN VAR_004939 R330G OTC_HUMAN VAR_004940 A336S OTC_HUMAN VAR_004941 V337L OTC_HUMAN VAR_004942 V339L OTC_HUMAN VAR_004943 S340P OTC_HUMAN VAR_004944 T343K OTC_HUMAN VAR_004946 Y345C OTC_HUMAN VAR_004947 Y345D OTC_HUMAN VAR_004948 F354C OTC_HUMAN VAR_009233 I172F OTC_HUMAN VAR_009234 G188V OTC_HUMAN VAR_009235 G197R OTC_HUMAN VAR_010605 A140P OTC_HUMAN VAR_010606 N198K OTC_HUMAN VAR_010607 H214Y OTC_HUMAN VAR_010608 T262K OTC_HUMAN VAR_010609 W265L OTC_HUMAN VAR_010610 E326K OTC_HUMAN VAR_012651 I160S OTC_HUMAN VAR_012652 L191F OTC_HUMAN VAR_012653 M206I OTC_HUMAN VAR_012654 L301F OTC_HUMAN VAR_012655 P305H OTC_HUMAN VAR_012657 L341P P53_HUMAN VAR_005875 M133T P53_HUMAN VAR_005932 R175H P53_HUMAN VAR_005948 H193R P53_HUMAN VAR_005972 G245C P53_HUMAN VAR_005973 G245D P53_HUMAN VAR_005983 R248Q P53_HUMAN VAR_005984 R248W P53_HUMAN VAR_005988 L252P P53_HUMAN VAR_005991 E258K P53_HUMAN VAR_005992 V272L P53_HUMAN VAR_005995 R273H P53_HUMAN VAR_006026 E286A P53_HUMAN VAR_006039 G325V P53_HUMAN VAR_006041 R337C P53_HUMAN VAR_015819 K292I P73L_HUMAN VAR_020869 K233E P73L_HUMAN VAR_020870 R243Q P73L_HUMAN VAR_020871 R243W P73L_HUMAN VAR_020873 R318H P73L_HUMAN VAR_020874 R319C P73L_HUMAN VAR_020875 R337Q P73L_HUMAN VAR_020876 R343Q P73L_HUMAN VAR_020877 C345R P73L_HUMAN VAR_020878 D351G P85A_HUMAN VAR_010024 R409Q PAFA_HUMAN VAR_004268 V279F PAFA_HUMAN VAR_011585 Q281R PAHX_HUMAN VAR_005525 N269H PAHX_HUMAN VAR_005526 R275W PAHX_HUMAN VAR_017482 P29S PAHX_HUMAN VAR_017483 P173S PAHX_HUMAN VAR_017484 Q176K PAHX_HUMAN VAR_017485 D177G PAHX_HUMAN VAR_017486 W193R PAHX_HUMAN VAR_017487 E197Q PAHX_HUMAN VAR_017488 I199F PAHX_HUMAN VAR_017489 G204S PAHX_HUMAN VAR_017490 H220Y PAHX_HUMAN VAR_017491 R245Q PAHX_HUMAN VAR_017492 F257S PAHX_HUMAN VAR_017493 R275Q PAHX_HUMAN VAR_018619 N83Y PAHX_HUMAN VAR_018631 H175R PANK2_HUMAN VAR_015154 G219V PANK2_HUMAN VAR_015155 T234A PANK2_HUMAN VAR_015156 R264W PANK2_HUMAN VAR_015157 R278C PANK2_HUMAN VAR_015158 L282V PANK2_HUMAN VAR_015159 R286C PANK2_HUMAN VAR_015160 T327I PANK2_HUMAN VAR_015161 S351P PANK2_HUMAN VAR_015162 N355S PANK2_HUMAN VAR_015163 N404I PANK2_HUMAN VAR_015164 L413P PANK2_HUMAN VAR_015165 S471N PANK2_HUMAN VAR_015166 I497T PANK2_HUMAN VAR_015167 N500I PANK2_HUMAN VAR_015168 G521R PANK2_HUMAN VAR_015169 T528M PARK7_HUMAN VAR_020492 M26I PARK7_HUMAN VAR_020493 E64D PARK7_HUMAN VAR_020495 A104T PARK7_HUMAN VAR_020496 D149A PARK7_HUMAN VAR_020498 L166P PAX2_HUMAN VAR_003789 G76S PAX3_HUMAN VAR_003790 F45L PAX3_HUMAN VAR_003791 N47H PAX3_HUMAN VAR_003792 N47K PAX3_HUMAN VAR_003793 P50L PAX3_HUMAN VAR_003794 R56L PAX3_HUMAN VAR_003795 I59F PAX3_HUMAN VAR_003796 I59N PAX3_HUMAN VAR_003797 V60M PAX3_HUMAN VAR_003798 M62V PAX3_HUMAN VAR_003800 G81A PAX3_HUMAN VAR_003801 S84F PAX3_HUMAN VAR_003802 K85E PAX3_HUMAN VAR_003803 G99D PAX3_HUMAN VAR_003804 F238S PAX3_HUMAN VAR_003805 V265F PAX3_HUMAN VAR_003806 R271G PAX3_HUMAN VAR_013619 R270C PAX3_HUMAN VAR_013640 S73L PAX3_HUMAN VAR_013641 Q391H PAX3_HUMAN VAR_017533 G48R PAX3_HUMAN VAR_017534 V78M PAX3_HUMAN VAR_017535 Y90H PAX3_HUMAN VAR_017536 W266C PAX3_HUMAN VAR_017537 R271C PAX3_HUMAN VAR_017538 R271H PAX6_HUMAN VAR_003808 N17S PAX6_HUMAN VAR_003809 G18W PAX6_HUMAN VAR_003810 R26G PAX6_HUMAN VAR_003811 I29V PAX6_HUMAN VAR_003812 R44Q PAX6_HUMAN VAR_003813 I87R PAX6_HUMAN VAR_003814 R128C PAX6_HUMAN VAR_003815 Q178H PAX6_HUMAN VAR_003816 R208W PAX6_HUMAN VAR_008694 I29S PAX6_HUMAN VAR_008695 A33P PAX6_HUMAN VAR_008697 I42S PAX6_HUMAN VAR_008698 S43P PAX6_HUMAN VAR_008699 V53L PAX6_HUMAN VAR_008700 V53D PAX6_HUMAN VAR_008701 T63P PAX6_HUMAN VAR_008702 G64V PAX6_HUMAN VAR_008703 A79E PAX6_HUMAN VAR_008704 S119R PAX6_HUMAN VAR_008705 V126D PAX6_HUMAN VAR_008706 R208Q PAX6_HUMAN VAR_008707 S353A PAX6_HUMAN VAR_008708 Q422R PAX6_HUMAN VAR_015066 P375Q PAX6_HUMAN VAR_017541 R125C PAX6_HUMAN VAR_017542 F258S PAX6_HUMAN VAR_017543 S292I PAX6_HUMAN VAR_017544 S363P PAX6_HUMAN VAR_017546 M381V PAX8_HUMAN VAR_012769 R31H PAX8_HUMAN VAR_012770 Q40P PAX8_HUMAN VAR_012771 C57Y PAX8_HUMAN VAR_012772 L62R PAX9_HUMAN VAR_015698 G51S PCCA_HUMAN VAR_009087 A50P PCCA_HUMAN VAR_009088 R52W PCCA_HUMAN VAR_009089 A113T PCCA_HUMAN VAR_009090 I139T PCCA_HUMAN VAR_009091 M204K PCCA_HUMAN VAR_009092 Q272R PCCA_HUMAN VAR_009093 D343G PCCA_HUMAN VAR_009094 M348K PCCA_HUMAN VAR_009095 G354V PCCA_HUMAN VAR_009096 R374Q PCCA_HUMAN VAR_009097 P398L PCCA_HUMAN VAR_009099 W534L PCCA_HUMAN VAR_009100 G606R PCCA_HUMAN VAR_009101 G643R PCCB_HUMAN VAR_000271 R44P PCCB_HUMAN VAR_000272 S106R PCCB_HUMAN VAR_000273 G131R PCCB_HUMAN VAR_000274 R165W PCCB_HUMAN VAR_000275 E168K PCCB_HUMAN VAR_000276 G198D PCCB_HUMAN VAR_000278 R410W PCCB_HUMAN VAR_000279 A497V PCCB_HUMAN VAR_000280 R512C PCCB_HUMAN VAR_000281 L519P PCCB_HUMAN VAR_009080 L17M PCCB_HUMAN VAR_009082 V205D PCCB_HUMAN VAR_009083 P228L PCCB_HUMAN VAR_009084 T428I PCCB_HUMAN VAR_009085 M442T PCCB_HUMAN VAR_009086 N536D PCSK9_HUMAN VAR_017199 S127R PCSK9_HUMAN VAR_017200 F216L PDE6A_HUMAN VAR_006049 S343R PDE6B_HUMAN VAR_006050 H557Y PDE6B_HUMAN VAR_006051 G576D PDE6B_HUMAN VAR_006052 L699R PDE6B_HUMAN VAR_009283 R74C PDE6B_HUMAN VAR_009286 Y219H PDE6B_HUMAN VAR_009287 L228H PDE6B_HUMAN VAR_009289 H258N PDE6B_HUMAN VAR_009290 L527P PDE6B_HUMAN VAR_009291 I535N PDE6B_HUMAN VAR_009292 R552Q PDE6B_HUMAN VAR_009293 L854R PEND_HUMAN VAR_007440 G209V PEND_HUMAN VAR_007441 L236P PEND_HUMAN VAR_007442 K369E PEND_HUMAN VAR_007443 A372V PEND_HUMAN VAR_007444 E384G PEND_HUMAN VAR_007445 T416P PEND_HUMAN VAR_007446 G497S PEND_HUMAN VAR_007447 F667C PEND_HUMAN VAR_007448 T721M PEND_HUMAN VAR_007449 H723R PEND_HUMAN VAR_011623 T193I PEND_HUMAN VAR_011624 L445W PEND_HUMAN VAR_021639 S28R PEND_HUMAN VAR_021640 E29Q PEND_HUMAN VAR_021641 Y78C PEND_HUMAN VAR_021642 S90L PEND_HUMAN VAR_021643 G102R PEND_HUMAN VAR_021645 Y105C PEND_HUMAN VAR_021646 A106D PEND_HUMAN VAR_021647 L117F PEND_HUMAN VAR_021648 T132I PEND_HUMAN VAR_021649 S133T PEND_HUMAN VAR_021650 S137P PEND_HUMAN VAR_021651 V138F PEND_HUMAN VAR_021652 G139A PEND_HUMAN VAR_021653 V239D PEND_HUMAN VAR_021654 S252P PEND_HUMAN VAR_021655 D271H PEND_HUMAN VAR_021656 F335L PEND_HUMAN VAR_021657 S391N PEND_HUMAN VAR_021658 N392Y PEND_HUMAN VAR_021659 R409H PEND_HUMAN VAR_021660 R409P PEND_HUMAN VAR_021661 T410M PEND_HUMAN VAR_021662 A411P PEND_HUMAN VAR_021665 Q446R PEND_HUMAN VAR_021666 I455F PEND_HUMAN VAR_021667 N457K PEND_HUMAN VAR_021668 V480D PEND_HUMAN VAR_021669 I490L PEND_HUMAN VAR_021670 Y530H PEND_HUMAN VAR_021671 S552I PEND_HUMAN VAR_021672 Y556C PEND_HUMAN VAR_021673 Y556H PEND_HUMAN VAR_021674 C565Y PEND_HUMAN VAR_021675 L597S PEND_HUMAN VAR_021676 V653A PEND_HUMAN VAR_021677 G672E PEND_HUMAN VAR_021678 L676Q PEND_HUMAN VAR_021680 S694P PEND_HUMAN VAR_021681 D724N PEPD_HUMAN VAR_004404 D275N PEPD_HUMAN VAR_004405 G447R PEPD_HUMAN VAR_011614 R183Q PEPD_HUMAN VAR_011615 G277D PERE_HUMAN VAR_015376 R286H PERF_HUMAN VAR_010744 V183G PERF_HUMAN VAR_010745 R225W PERF_HUMAN VAR_010746 N252S PERF_HUMAN VAR_010747 C279Y PERF_HUMAN VAR_010748 P345L PERF_HUMAN VAR_010749 G429E PERF_HUMAN VAR_010772 V50M PERF_HUMAN VAR_010774 I224D PERM_HUMAN VAR_015377 Y173C PERM_HUMAN VAR_015378 M251T PERM_HUMAN VAR_015379 R569W PERT_HUMAN VAR_006060 Y453D PERT_HUMAN VAR_006062 E799K PERT_HUMAN VAR_013138 R648Q PERT_HUMAN VAR_015375 I447F PERT_HUMAN VAR_021622 A53P PERT_HUMAN VAR_021623 D240N PERT_HUMAN VAR_021624 N307T PERT_HUMAN VAR_021625 A326T PERT_HUMAN VAR_021626 V433M PERT_HUMAN VAR_021627 L458P PERT_HUMAN VAR_021628 R491H PERT_HUMAN VAR_021629 G493S PERT_HUMAN VAR_021630 P499L PERT_HUMAN VAR_021631 W527C PERT_HUMAN VAR_021632 Q660E PERT_HUMAN VAR_021633 R665W PERT_HUMAN VAR_021634 R693W PERT_HUMAN VAR_021635 G771R PERT_HUMAN VAR_021636 D796Y PERT_HUMAN VAR_021637 C808R PEX10_HUMAN VAR_007805 H290Q PEX13_HUMAN VAR_009306 I326T PEX1_HUMAN VAR_008876 L664P PEX1_HUMAN VAR_008877 G843D PEX26_HUMAN VAR_018647 L45P PEX26_HUMAN VAR_018648 G89R PEX26_HUMAN VAR_018649 R98W PEX2_HUMAN VAR_011389 E55K PEX3_HUMAN VAR_009304 G138E PEX6_HUMAN VAR_007918 R812Q PEX6_HUMAN VAR_007919 R812W PEX7_HUMAN VAR_007725 G217R PEX7_HUMAN VAR_007726 A218V PEX7_HUMAN VAR_016810 T14P PGAM2_HUMAN VAR_006088 E88A PGAM2_HUMAN VAR_006089 R89W PGAM2_HUMAN VAR_013103 G96D PGBM_HUMAN VAR_014122 C1532Y PGK1_HUMAN VAR_006077 G157V PGK1_HUMAN VAR_006078 D163V PGK1_HUMAN VAR_006080 R205P PGK1_HUMAN VAR_006081 E251A PGK1_HUMAN VAR_006084 D284V PGK1_HUMAN VAR_006086 C315R PH4H_HUMAN VAR_000869 S16P PH4H_HUMAN VAR_000870 F39L PH4H_HUMAN VAR_000872 S40L PH4H_HUMAN VAR_000873 L41F PH4H_HUMAN VAR_000874 K42I PH4H_HUMAN VAR_000875 G46S PH4H_HUMAN VAR_000876 A47V PH4H_HUMAN VAR_000877 L48S PH4H_HUMAN VAR_000878 R53H PH4H_HUMAN VAR_000879 F55L PH4H_HUMAN VAR_000880 E56D PH4H_HUMAN VAR_000882 I65N PH4H_HUMAN VAR_000883 I65T PH4H_HUMAN VAR_000884 S67P PH4H_HUMAN VAR_000885 R68S PH4H_HUMAN VAR_000886 E76A PH4H_HUMAN VAR_000887 D84Y PH4H_HUMAN VAR_000888 S87R PH4H_HUMAN VAR_000889 T92I PH4H_HUMAN VAR_000891 L98S PH4H_HUMAN VAR_000892 A104D PH4H_HUMAN VAR_000893 T124I PH4H_HUMAN VAR_000894 D129Y PH4H_HUMAN VAR_000895 D143G PH4H_HUMAN VAR_000896 H146Y PH4H_HUMAN VAR_000897 G148S PH4H_HUMAN VAR_000898 D151H PH4H_HUMAN VAR_000899 Y154N PH4H_HUMAN VAR_000900 R157N PH4H_HUMAN VAR_000901 R158Q PH4H_HUMAN VAR_000902 R158W PH4H_HUMAN VAR_000903 Q160P PH4H_HUMAN VAR_000904 F161S PH4H_HUMAN VAR_000905 I164T PH4H_HUMAN VAR_000906 N167I PH4H_HUMAN VAR_000907 H170R PH4H_HUMAN VAR_000908 G171A PH4H_HUMAN VAR_000909 G171R PH4H_HUMAN VAR_000910 P173T PH4H_HUMAN VAR_000911 I174T PH4H_HUMAN VAR_000912 P175A PH4H_HUMAN VAR_000913 R176L PH4H_HUMAN VAR_000914 R176P PH4H_HUMAN VAR_000915 V177L PH4H_HUMAN VAR_000916 E178G PH4H_HUMAN VAR_000917 V190A PH4H_HUMAN VAR_000918 L194P PH4H_HUMAN VAR_000922 H201R PH4H_HUMAN VAR_000923 H201Y PH4H_HUMAN VAR_000924 Y204C PH4H_HUMAN VAR_000925 Y206D PH4H_HUMAN VAR_000926 N207D PH4H_HUMAN VAR_000927 N207S PH4H_HUMAN VAR_000928 P211T PH4H_HUMAN VAR_000929 L212P PH4H_HUMAN VAR_000930 L213P PH4H_HUMAN VAR_000931 C217G PH4H_HUMAN VAR_000932 G218V PH4H_HUMAN VAR_000933 E221G PH4H_HUMAN VAR_000934 D222V PH4H_HUMAN VAR_000935 I224M PH4H_HUMAN VAR_000936 P225R PH4H_HUMAN VAR_000937 P225T PH4H_HUMAN VAR_000938 V230I PH4H_HUMAN VAR_000939 S231P PH4H_HUMAN VAR_000940 F233L PH4H_HUMAN VAR_000941 T238P PH4H_HUMAN VAR_000942 G239S PH4H_HUMAN VAR_000943 R241C PH4H_HUMAN VAR_000944 R241H PH4H_HUMAN VAR_000945 R241L PH4H_HUMAN VAR_000946 L242F PH4H_HUMAN VAR_000947 R243Q PH4H_HUMAN VAR_000948 P244L PH4H_HUMAN VAR_000949 V245A PH4H_HUMAN VAR_000950 V245E PH4H_HUMAN VAR_000951 V245L PH4H_HUMAN VAR_000952 A246D PH4H_HUMAN VAR_000953 G247V PH4H_HUMAN VAR_000954 L248P PH4H_HUMAN VAR_000955 L249F PH4H_HUMAN VAR_000956 R252G PH4H_HUMAN VAR_000957 R252Q PH4H_HUMAN VAR_000958 R252W PH4H_HUMAN VAR_000959 L255V PH4H_HUMAN VAR_000960 L255S PH4H_HUMAN VAR_000961 G257C PH4H_HUMAN VAR_000962 A259T PH4H_HUMAN VAR_000963 A259V PH4H_HUMAN VAR_000964 R261P PH4H_HUMAN VAR_000966 F263L PH4H_HUMAN VAR_000967 H264L PH4H_HUMAN VAR_000968 C265G PH4H_HUMAN VAR_000969 I269L PH4H_HUMAN VAR_000970 R270K PH4H_HUMAN VAR_000971 R270S PH4H_HUMAN VAR_000972 H271Y PH4H_HUMAN VAR_000973 S273F PH4H_HUMAN VAR_000974 M276I PH4H_HUMAN VAR_000975 M276V PH4H_HUMAN VAR_000976 Y277C PH4H_HUMAN VAR_000977 Y277D PH4H_HUMAN VAR_000978 T278A PH4H_HUMAN VAR_000979 T278N PH4H_HUMAN VAR_000980 E280K PH4H_HUMAN VAR_000981 P281L PH4H_HUMAN VAR_000982 D282N PH4H_HUMAN VAR_000983 I283F PH4H_HUMAN VAR_000984 I283N PH4H_HUMAN VAR_000985 R297C PH4H_HUMAN VAR_000986 R297H PH4H_HUMAN VAR_000987 F299C PH4H_HUMAN VAR_000988 A300S PH4H_HUMAN VAR_000989 A300V PH4H_HUMAN VAR_000990 S303P PH4H_HUMAN VAR_000991 Q304R PH4H_HUMAN VAR_000992 I306V PH4H_HUMAN VAR_000993 A309D PH4H_HUMAN VAR_000994 A309V PH4H_HUMAN VAR_000995 S310F PH4H_HUMAN VAR_000996 L311P PH4H_HUMAN VAR_000997 P314H PH4H_HUMAN VAR_000998 A322G PH4H_HUMAN VAR_000999 A322T PH4H_HUMAN VAR_001000 F331L PH4H_HUMAN VAR_001001 L333F PH4H_HUMAN VAR_001002 C334S PH4H_HUMAN VAR_001003 G337V PH4H_HUMAN VAR_001004 D338Y PH4H_HUMAN VAR_001005 K341R PH4H_HUMAN VAR_001006 K341T PH4H_HUMAN VAR_001007 A342T PH4H_HUMAN VAR_001008 Y343C PH4H_HUMAN VAR_001009 A345S PH4H_HUMAN VAR_001010 A345T PH4H_HUMAN VAR_001011 L347F PH4H_HUMAN VAR_001012 L348V PH4H_HUMAN VAR_001013 S349L PH4H_HUMAN VAR_001014 S349P PH4H_HUMAN VAR_001015 S350T PH4H_HUMAN VAR_001016 P362T PH4H_HUMAN VAR_001019 P366H PH4H_HUMAN VAR_001020 T372S PH4H_HUMAN VAR_001021 Y377C PH4H_HUMAN VAR_001022 T380M PH4H_HUMAN VAR_001023 Y386C PH4H_HUMAN VAR_001024 Y387H PH4H_HUMAN VAR_001025 V388L PH4H_HUMAN VAR_001026 V388M PH4H_HUMAN VAR_001027 E390G PH4H_HUMAN VAR_001028 D394A PH4H_HUMAN VAR_001029 D394H PH4H_HUMAN VAR_001030 A395G PH4H_HUMAN VAR_001031 A395P PH4H_HUMAN VAR_001033 A403V PH4H_HUMAN VAR_001034 R408Q PH4H_HUMAN VAR_001035 R408W PH4H_HUMAN VAR_001036 R413P PH4H_HUMAN VAR_001037 R413S PH4H_HUMAN VAR_001038 Y414C PH4H_HUMAN VAR_001039 D415N PH4H_HUMAN VAR_001040 T418P PH4H_HUMAN VAR_001041 L430P PH4H_HUMAN VAR_001042 A447D PH4H_HUMAN VAR_009239 Q20L PH4H_HUMAN VAR_009240 L41P PH4H_HUMAN VAR_009241 S110C PH4H_HUMAN VAR_009242 R155P PH4H_HUMAN VAR_009243 E183Q PH4H_HUMAN VAR_009244 S231F PH4H_HUMAN VAR_009245 Y325C PH4H_HUMAN VAR_009246 E330D PH4H_HUMAN VAR_009247 G344R PH4H_HUMAN VAR_009248 G344V PH4H_HUMAN VAR_009249 F410S PH4H_HUMAN VAR_011566 D145V PH4H_HUMAN VAR_011567 N167S PH4H_HUMAN VAR_011568 R169H PH4H_HUMAN VAR_011569 H170D PH4H_HUMAN VAR_011570 I174V PH4H_HUMAN VAR_011571 E205A PH4H_HUMAN VAR_011572 F240S PH4H_HUMAN VAR_011574 I318T PH4H_HUMAN VAR_011575 C357G PH4H_HUMAN VAR_011576 P407S PHEX_HUMAN VAR_006738 C77S PHEX_HUMAN VAR_006739 C85Y PHEX_HUMAN VAR_006740 L138P PHEX_HUMAN VAR_006741 R166C PHEX_HUMAN VAR_006742 F252S PHEX_HUMAN VAR_006743 M253I PHEX_HUMAN VAR_006744 P534L PHEX_HUMAN VAR_006745 G579R PHEX_HUMAN VAR_006746 G579V PHEX_HUMAN VAR_010616 F80S PHEX_HUMAN VAR_010617 C85F PHEX_HUMAN VAR_010618 C85R PHEX_HUMAN VAR_010619 S141P PHEX_HUMAN VAR_010620 C142F PHEX_HUMAN VAR_010621 L160R PHEX_HUMAN VAR_010622 D237G PHEX_HUMAN VAR_010623 Y317F PHEX_HUMAN VAR_010626 W530C PHEX_HUMAN VAR_010627 L555P PHEX_HUMAN VAR_010628 R567P PHEX_HUMAN VAR_010629 A573D PHEX_HUMAN VAR_010630 Q621R PHEX_HUMAN VAR_010631 R651P PHEX_HUMAN VAR_010633 N680K PHEX_HUMAN VAR_010634 C693Y PHEX_HUMAN VAR_010635 A720T PHEX_HUMAN VAR_010636 F731Y PHEX_HUMAN VAR_010637 C733S PHEX_HUMAN VAR_010638 C746W PHEX_HUMAN VAR_010639 W749R PHF6_HUMAN VAR_017633 C45Y PHF6_HUMAN VAR_017634 C99F PHF6_HUMAN VAR_017635 H229R PHF6_HUMAN VAR_017636 K234E PHF6_HUMAN VAR_017637 R257G PHKG2_HUMAN VAR_009517 V106E PHKG2_HUMAN VAR_009518 G189E PHKG2_HUMAN VAR_020854 E157K PHKG2_HUMAN VAR_020855 D215N PHS1_HUMAN VAR_007908 N339S PHS1_HUMAN VAR_007909 N377K PHS2_HUMAN VAR_003431 G204S PHS2_HUMAN VAR_003432 L396P PHS2_HUMAN VAR_003433 K542T PHS2_HUMAN VAR_003434 E654K PHS2_HUMAN VAR_014002 L115P PHS2_HUMAN VAR_014003 R193W PHS2_HUMAN VAR_014004 L291P PHS2_HUMAN VAR_014005 E348K PHS2_HUMAN VAR_014006 T487N PHS2_HUMAN VAR_014007 R601W PHS2_HUMAN VAR_014008 A659D PHS2_HUMAN VAR_014009 Q665E PHS2_HUMAN VAR_014010 N684Y PHS2_HUMAN VAR_014011 G685R PHS2_HUMAN VAR_014012 A686P PHS2_HUMAN VAR_014013 A703V PHS2_HUMAN VAR_014015 W797R PHS_HUMAN VAR_005527 T78I PHS_HUMAN VAR_005528 C81R PHS_HUMAN VAR_005529 R87Q PHS_HUMAN VAR_005530 E96K PHX2A_HUMAN VAR_019014 A72V PIGA_HUMAN VAR_005531 S155F PIGA_HUMAN VAR_005532 N297D PIGA_HUMAN VAR_015436 D40H PIGA_HUMAN VAR_015437 G48A PIGA_HUMAN VAR_015438 G48D PIGA_HUMAN VAR_015439 G48V PIGA_HUMAN VAR_015440 H128R PIGA_HUMAN VAR_015441 G239R PIGA_HUMAN VAR_015442 R19W PINK1_HUMAN VAR_018994 G309D PIT1_HUMAN VAR_003777 P24L PIT1_HUMAN VAR_003778 R143Q PIT1_HUMAN VAR_003779 A158P PIT1_HUMAN VAR_003781 R271W PIT1_HUMAN VAR_010574 F135C PIT1_HUMAN VAR_010575 E174G PIT1_HUMAN VAR_010576 P239S PIT1_HUMAN VAR_015260 W193R PITX2_HUMAN VAR_003762 R89W PITX2_HUMAN VAR_003763 L100Q PITX2_HUMAN VAR_003764 T114P PITX2_HUMAN VAR_003765 R115H PITX2_HUMAN VAR_003766 R137P PITX3_HUMAN VAR_003767 S13N PKD1_HUMAN VAR_005534 R2761P PKD1_HUMAN VAR_005535 L2763V PKD1_HUMAN VAR_005537 R2791Q PKD1_HUMAN VAR_005538 I2826T PKD1_HUMAN VAR_005539 V3008L PKD1_HUMAN VAR_005541 V3375M PKD1_HUMAN VAR_005543 M3678T PKD1_HUMAN VAR_005545 G4032D PKD1_HUMAN VAR_010085 R324L PKD1_HUMAN VAR_010086 L845S PKD1_HUMAN VAR_010089 L2993P PKD1_HUMAN VAR_010090 Q3016R PKD1_HUMAN VAR_010092 L3511V PKD1_HUMAN VAR_010096 R4136G PKD1_HUMAN VAR_010097 R4154C PKD1_HUMAN VAR_010099 Q4225P PKD1_HUMAN VAR_010100 R4276W PKD1_HUMAN VAR_011030 L13Q PKD1_HUMAN VAR_011031 S75F PKD1_HUMAN VAR_011032 W139C PKD1_HUMAN VAR_011033 G1166S PKD1_HUMAN VAR_011034 V1956E PKD1_HUMAN VAR_011038 T2250M PKD1_HUMAN VAR_011039 R2329W PKD1_HUMAN VAR_011040 Y2336D PKD1_HUMAN VAR_011042 R2408C PKD1_HUMAN VAR_011049 A2752D PKD1_HUMAN VAR_011052 V2768M PKD1_HUMAN VAR_011053 E2771K PKD1_HUMAN VAR_011056 L2816P PKD1_HUMAN VAR_011057 G2858S PKD1_HUMAN VAR_011060 H2921P PKD1_HUMAN VAR_011067 R3719Q PKD1_HUMAN VAR_011068 R3753W PKD1_HUMAN VAR_011069 D3815N PKD1_HUMAN VAR_011070 L3852P PKD1_HUMAN VAR_012453 W967R PKD1_HUMAN VAR_012454 R2392P PKD1_HUMAN VAR_012455 S2423F PKD1_HUMAN VAR_012456 P2471L PKD1_HUMAN VAR_012457 Q2519L PKD1_HUMAN VAR_012463 T2649I PKD1_HUMAN VAR_012464 L2696R PKD1_HUMAN VAR_012467 R2985G PKD1_HUMAN VAR_012468 R3039C PKD1_HUMAN VAR_012469 V3285I PKD1_HUMAN VAR_012471 G3560R PKD1_HUMAN VAR_013838 R3247H PKD1_HUMAN VAR_013839 T3382M PKD2_HUMAN VAR_009195 W414G PKD2_HUMAN VAR_011073 A356P PKHD1_HUMAN VAR_014039 T36M PKHD1_HUMAN VAR_014040 I222V PKHD1_HUMAN VAR_014041 F253L PKHD1_HUMAN VAR_014044 R760H PKHD1_HUMAN VAR_014046 G1122S PKHD1_HUMAN VAR_014048 C1249W PKHD1_HUMAN VAR_014050 L1407R PKHD1_HUMAN VAR_014051 R1624W PKHD1_HUMAN VAR_014052 S1664F PKHD1_HUMAN VAR_014053 V1741M PKHD1_HUMAN VAR_014054 Q1917R PKHD1_HUMAN VAR_014055 E1995G PKHD1_HUMAN VAR_014056 I2331K PKHD1_HUMAN VAR_014058 I2957T PKHD1_HUMAN VAR_014059 S3018F PKHD1_HUMAN VAR_014061 I3553T PKHD1_HUMAN VAR_018520 A17V PKHD1_HUMAN VAR_018522 G223S PKHD1_HUMAN VAR_018523 I307T PKHD1_HUMAN VAR_018524 G326V PKHD1_HUMAN VAR_018527 I473S PKHD1_HUMAN VAR_018528 Y486H PKHD1_HUMAN VAR_018530 R496P PKHD1_HUMAN VAR_018532 W656C PKHD1_HUMAN VAR_018533 D703N PKHD1_HUMAN VAR_018535 P739L PKHD1_HUMAN VAR_018536 I757L PKHD1_HUMAN VAR_018537 P805L PKHD1_HUMAN VAR_018539 T899P PKHD1_HUMAN VAR_018540 M997K PKHD1_HUMAN VAR_018541 A1030E PKHD1_HUMAN VAR_018542 G1123S PKHD1_HUMAN VAR_018546 P1389T PKHD1_HUMAN VAR_018547 C1472Y PKHD1_HUMAN VAR_018548 P1486L PKHD1_HUMAN VAR_018549 S1584I PKHD1_HUMAN VAR_018551 T1781I PKHD1_HUMAN VAR_018552 V1789L PKHD1_HUMAN VAR_018553 S1833L PKHD1_HUMAN VAR_018554 Y1838C PKHD1_HUMAN VAR_018555 S1867N PKHD1_HUMAN VAR_018557 D1942G PKHD1_HUMAN VAR_018558 G1971D PKHD1_HUMAN VAR_018559 I1998T PKHD1_HUMAN VAR_018560 V2032L PKHD1_HUMAN VAR_018561 L2134P PKHD1_HUMAN VAR_018562 I2303F PKHD1_HUMAN VAR_018563 C2422G PKHD1_HUMAN VAR_018565 T2641A PKHD1_HUMAN VAR_018566 C2688F PKHD1_HUMAN VAR_018567 D2761Y PKHD1_HUMAN VAR_018568 L2772P PKHD1_HUMAN VAR_018569 S2861G PKHD1_HUMAN VAR_018570 Y2863C PKHD1_HUMAN VAR_018572 D2962G PKHD1_HUMAN VAR_018573 S2983L PKHD1_HUMAN VAR_018574 V3036G PKHD1_HUMAN VAR_018576 I3081V PKHD1_HUMAN VAR_018579 H3124Y PKHD1_HUMAN VAR_018581 I3167L PKHD1_HUMAN VAR_018582 N3175D PKHD1_HUMAN VAR_018583 N3175S PKHD1_HUMAN VAR_018584 I3177T PKHD1_HUMAN VAR_018586 D3293V PKHD1_HUMAN VAR_018587 C3346R PKHD1_HUMAN VAR_018589 I3468V PKHD1_HUMAN VAR_018590 V3471G PKHD1_HUMAN VAR_018591 R3482C PKHD1_HUMAN VAR_018592 E3502V PKHD1_HUMAN VAR_018594 E3529Q PKHD1_HUMAN VAR_018596 C3622Y PKHD1_HUMAN VAR_018597 P3783S PKP2_HUMAN VAR_021148 S140F PKP2_HUMAN VAR_021149 S615F PKP2_HUMAN VAR_021150 K654Q PKP2_HUMAN VAR_021151 C796R PLCB_HUMAN VAR_017325 A239V PLCB_HUMAN VAR_017327 L228P PLCB_HUMAN VAR_017328 G136R PLEC1_HUMAN VAR_015817 R2110W PLMN_HUMAN VAR_006627 V374F PLMN_HUMAN VAR_006628 S591P PLMN_HUMAN VAR_006629 A620T PLMN_HUMAN VAR_018659 R235H PLOD1_HUMAN VAR_006355 W612C PLOD1_HUMAN VAR_006356 G678R PLOD1_HUMAN VAR_023466 W446G PLOD1_HUMAN VAR_023467 A667T PLOD1_HUMAN VAR_023468 H706R PLOD2_HUMAN VAR_022164 R598H PLOD2_HUMAN VAR_022165 G601V PLOD2_HUMAN VAR_022166 T608I PMGT1_HUMAN VAR_023101 E223K PMGT1_HUMAN VAR_023102 R265H PMGT1_HUMAN VAR_023103 C269Y PMGT1_HUMAN VAR_023104 R311Q PMGT1_HUMAN VAR_023105 W425S PMGT1_HUMAN VAR_023106 R442C PMGT1_HUMAN VAR_023107 C490Y PMGT1_HUMAN VAR_023108 P493R PMGT1_HUMAN VAR_023109 S550N PMM2_HUMAN VAR_006093 V44A PMM2_HUMAN VAR_006094 D65Y PMM2_HUMAN VAR_006095 N101K PMM2_HUMAN VAR_006096 Y106C PMM2_HUMAN VAR_006097 A108V PMM2_HUMAN VAR_006098 P113L PMM2_HUMAN VAR_006099 G117R PMM2_HUMAN VAR_006100 F119L PMM2_HUMAN VAR_006101 R123Q PMM2_HUMAN VAR_006102 V129M PMM2_HUMAN VAR_006103 P131A PMM2_HUMAN VAR_006104 I132T PMM2_HUMAN VAR_006105 R141H PMM2_HUMAN VAR_006106 R162W PMM2_HUMAN VAR_006107 G175R PMM2_HUMAN VAR_006108 D188G PMM2_HUMAN VAR_006109 G208A PMM2_HUMAN VAR_006110 N216I PMM2_HUMAN VAR_006111 D223E PMM2_HUMAN VAR_006112 Y229S PMM2_HUMAN VAR_006113 V231M PMM2_HUMAN VAR_006114 A233T PMM2_HUMAN VAR_006115 T237M PMM2_HUMAN VAR_006116 R238P PMM2_HUMAN VAR_009232 E139K PMM2_HUMAN VAR_012344 L104V PMM2_HUMAN VAR_022469 C9Y PMM2_HUMAN VAR_022470 F11C PMM2_HUMAN VAR_022471 G15E PMM2_HUMAN VAR_022472 P20S PMM2_HUMAN VAR_022473 L32R PMM2_HUMAN VAR_022474 Q37H PMM2_HUMAN VAR_022476 Y64C PMM2_HUMAN VAR_022477 V67M PMM2_HUMAN VAR_022478 P69S PMM2_HUMAN VAR_022479 Y76C PMM2_HUMAN VAR_022480 E93A PMM2_HUMAN VAR_022481 C103F PMM2_HUMAN VAR_022482 I120T PMM2_HUMAN VAR_022483 I132F PMM2_HUMAN VAR_022484 I132N PMM2_HUMAN VAR_022485 R141C PMM2_HUMAN VAR_022486 F144L PMM2_HUMAN VAR_022487 D148N PMM2_HUMAN VAR_022488 E151G PMM2_HUMAN VAR_022489 I153T PMM2_HUMAN VAR_022490 F157S PMM2_HUMAN VAR_022491 F172V PMM2_HUMAN VAR_022492 G176V PMM2_HUMAN VAR_022493 Q177H PMM2_HUMAN VAR_022494 F183S PMM2_HUMAN VAR_022495 D185G PMM2_HUMAN VAR_022496 C192G PMM2_HUMAN VAR_022497 H195R PMM2_HUMAN VAR_022498 E197A PMM2_HUMAN VAR_022499 F206S PMM2_HUMAN VAR_022500 G214S PMM2_HUMAN VAR_022501 N216S PMM2_HUMAN VAR_022502 D217E PMM2_HUMAN VAR_022503 H218L PMM2_HUMAN VAR_022504 D223N PMM2_HUMAN VAR_022505 T226S PMM2_HUMAN VAR_022506 G228C PMM2_HUMAN VAR_022507 G228R PMM2_HUMAN VAR_022508 T237R PMM2_HUMAN VAR_022509 R238G PMM2_HUMAN VAR_022510 C241S PMM2_HUMAN VAR_022563 V44L PMP22_HUMAN VAR_006359 H12Q PMP22_HUMAN VAR_006360 L16P PMP22_HUMAN VAR_006361 L19P PMP22_HUMAN VAR_006362 M69K PMP22_HUMAN VAR_006363 S72L PMP22_HUMAN VAR_006364 S72P PMP22_HUMAN VAR_006365 S72W PMP22_HUMAN VAR_006366 S76I PMP22_HUMAN VAR_006367 S79C PMP22_HUMAN VAR_006368 S79P PMP22_HUMAN VAR_006369 L80P PMP22_HUMAN VAR_006371 G100E PMP22_HUMAN VAR_006372 G100R PMP22_HUMAN VAR_006373 L105R PMP22_HUMAN VAR_006374 G107V PMP22_HUMAN VAR_006377 L147R PMP22_HUMAN VAR_006378 G150C PMP22_HUMAN VAR_006379 G150D PMP22_HUMAN VAR_009659 V30M PMP22_HUMAN VAR_009660 D37V PMP22_HUMAN VAR_009661 A67P PMP22_HUMAN VAR_009662 G93R PMP22_HUMAN VAR_009664 R157W PMS2_HUMAN VAR_012974 E705K PNPH_HUMAN VAR_002244 E89K PNPH_HUMAN VAR_002245 D128G PNPH_HUMAN VAR_002246 A174P PNPH_HUMAN VAR_002247 R234P PNPH_HUMAN VAR_010653 Y192C PO3F4_HUMAN VAR_003782 A312V PO3F4_HUMAN VAR_003783 L317W PO3F4_HUMAN VAR_003784 R323G PO3F4_HUMAN VAR_003785 R330S PO3F4_HUMAN VAR_003786 K334E PODO_HUMAN VAR_010231 P20L PODO_HUMAN VAR_010232 G92C PODO_HUMAN VAR_010233 R138Q PODO_HUMAN VAR_010234 D160G PODO_HUMAN VAR_010235 V180M PODO_HUMAN VAR_010236 R291W POLH_HUMAN VAR_021227 R111H POLH_HUMAN VAR_021228 T122P POLH_HUMAN VAR_021230 G263V POLH_HUMAN VAR_021232 R361S POLH_HUMAN VAR_021234 K535E POLH_HUMAN VAR_021236 K589T POMT1_HUMAN VAR_015734 G76R POMT1_HUMAN VAR_015735 V428D POMT1_HUMAN VAR_022661 A200P PPAT_HUMAN VAR_022700 F388L PPAT_HUMAN VAR_022701 R425C PPBT_HUMAN VAR_006147 A33V PPBT_HUMAN VAR_006148 M62L PPBT_HUMAN VAR_006149 R71C PPBT_HUMAN VAR_006150 R71P PPBT_HUMAN VAR_006151 A111T PPBT_HUMAN VAR_006152 R136H PPBT_HUMAN VAR_006153 G162V PPBT_HUMAN VAR_006154 H171Y PPBT_HUMAN VAR_006155 A177T PPBT_HUMAN VAR_006156 A179T PPBT_HUMAN VAR_006157 E191G PPBT_HUMAN VAR_006158 E191K PPBT_HUMAN VAR_006159 C201Y PPBT_HUMAN VAR_006160 Q207P PPBT_HUMAN VAR_006162 L289F PPBT_HUMAN VAR_006163 D294A PPBT_HUMAN VAR_006164 D306V PPBT_HUMAN VAR_006165 F327L PPBT_HUMAN VAR_006166 G334D PPBT_HUMAN VAR_006167 D378V PPBT_HUMAN VAR_006168 V382I PPBT_HUMAN VAR_006169 Y436H PPBT_HUMAN VAR_006170 E476K PPBT_HUMAN VAR_011081 A40V PPBT_HUMAN VAR_011082 T134N PPBT_HUMAN VAR_011083 A176T PPBT_HUMAN VAR_011084 K224E PPBT_HUMAN VAR_011085 R246S PPBT_HUMAN VAR_011086 A348T PPBT_HUMAN VAR_011087 H381R PPBT_HUMAN VAR_011088 D406G PPBT_HUMAN VAR_011089 G426C PPBT_HUMAN VAR_011090 R450H PPBT_HUMAN VAR_011091 G456R PPBT_HUMAN VAR_011092 N478I PPBT_HUMAN VAR_011093 C489S PPBT_HUMAN VAR_013146 A132V PPBT_HUMAN VAR_013972 Y28C PPBT_HUMAN VAR_013973 A51V PPBT_HUMAN VAR_013974 G63V PPBT_HUMAN VAR_013975 R71H PPBT_HUMAN VAR_013976 G75S PPBT_HUMAN VAR_013977 A116T PPBT_HUMAN VAR_013978 G120R PPBT_HUMAN VAR_013979 G129R PPBT_HUMAN VAR_013980 R152H PPBT_HUMAN VAR_013981 N170D PPBT_HUMAN VAR_013982 S181L PPBT_HUMAN VAR_013983 R184W PPBT_HUMAN VAR_013984 N211D PPBT_HUMAN VAR_013985 G220V PPBT_HUMAN VAR_013986 R223W PPBT_HUMAN VAR_013987 E235G PPBT_HUMAN VAR_013988 G249V PPBT_HUMAN VAR_013989 E291K PPBT_HUMAN VAR_013990 D294Y PPBT_HUMAN VAR_013991 G326R PPBT_HUMAN VAR_013992 F327G PPBT_HUMAN VAR_013993 R391C PPBT_HUMAN VAR_013994 A399S PPBT_HUMAN VAR_013995 V423A PPBT_HUMAN VAR_013996 S445P PPBT_HUMAN VAR_013997 R450C PPBT_HUMAN VAR_013998 V459M PPBT_HUMAN VAR_013999 G473S PPBT_HUMAN VAR_014000 I490F PPBT_HUMAN VAR_014001 G491R PPGB_HUMAN VAR_001385 Q49R PPGB_HUMAN VAR_001386 W65R PPGB_HUMAN VAR_001387 S90L PPGB_HUMAN VAR_001388 Y249N PPGB_HUMAN VAR_001389 Y395C PPGB_HUMAN VAR_001390 F440V PPIP1_HUMAN VAR_023522 A230T PPIP1_HUMAN VAR_023523 E250Q PPOX_HUMAN VAR_003686 R59W PPOX_HUMAN VAR_003687 R152C PPOX_HUMAN VAR_003689 G232R PPR3A_HUMAN VAR_019699 A931E PPT1_HUMAN VAR_005548 H39Q PPT1_HUMAN VAR_005549 G42E PPT1_HUMAN VAR_005550 T75P PPT1_HUMAN VAR_005551 D79G PPT1_HUMAN VAR_005552 Y109D PPT1_HUMAN VAR_005553 R122W PPT1_HUMAN VAR_005555 Q177E PPT1_HUMAN VAR_005556 V181L PPT1_HUMAN VAR_005557 V181M PPT1_HUMAN VAR_005558 L219Q PPT1_HUMAN VAR_005559 Y247H PPT1_HUMAN VAR_005560 G250V PPT1_HUMAN VAR_018511 G108R PRIO_HUMAN VAR_006464 P102L PRIO_HUMAN VAR_006465 P105L PRIO_HUMAN VAR_006469 D178N PRIO_HUMAN VAR_006470 V180I PRIO_HUMAN VAR_006472 F198S PRIO_HUMAN VAR_006473 E200K PRIO_HUMAN VAR_006474 R208H PRIO_HUMAN VAR_006475 V210I PRIO_HUMAN VAR_006476 Q217R PRIO_HUMAN VAR_006478 M232R PRIO_HUMAN VAR_008746 H187R PRIO_HUMAN VAR_008749 E196K PRIO_HUMAN VAR_008750 D202N PRIO_HUMAN VAR_008751 V203I PRIO_HUMAN VAR_008752 E211Q PRIO_HUMAN VAR_008753 Q212P PRIO_HUMAN VAR_014264 G131V PRKN2_HUMAN VAR_019733 V15M PRKN2_HUMAN VAR_019734 R33Q PRKN2_HUMAN VAR_019735 P37L PRKN2_HUMAN VAR_019736 R42P PRKN2_HUMAN VAR_019737 A46P PRKN2_HUMAN VAR_019738 A82E PRKN2_HUMAN VAR_019739 A92V PRKN2_HUMAN VAR_019741 K161N PRKN2_HUMAN VAR_019744 K211N PRKN2_HUMAN VAR_019745 K211R PRKN2_HUMAN VAR_019746 C212Y PRKN2_HUMAN VAR_019747 T240M PRKN2_HUMAN VAR_019748 T240R PRKN2_HUMAN VAR_019749 C253Y PRKN2_HUMAN VAR_019750 R256C PRKN2_HUMAN VAR_019752 R275W PRKN2_HUMAN VAR_019753 D280N PRKN2_HUMAN VAR_019754 G284R PRKN2_HUMAN VAR_019755 C289G PRKN2_HUMAN VAR_019756 G328E PRKN2_HUMAN VAR_019757 R334C PRKN2_HUMAN VAR_019759 T351P PRKN2_HUMAN VAR_019763 T415N PRKN2_HUMAN VAR_019764 G430D PRKN2_HUMAN VAR_019765 C431F PRKN2_HUMAN VAR_019766 P437L PRKN2_HUMAN VAR_019767 C441R PROC_HUMAN VAR_006634 W14G PROC_HUMAN VAR_006635 R32C PROC_HUMAN VAR_006636 R38W PROC_HUMAN VAR_006637 R42H PROC_HUMAN VAR_006638 R42C PROC_HUMAN VAR_006640 E49D PROC_HUMAN VAR_006641 R51C PROC_HUMAN VAR_006642 R57W PROC_HUMAN VAR_006643 R57G PROC_HUMAN VAR_006644 R57Q PROC_HUMAN VAR_006645 E62A PROC_HUMAN VAR_006646 V76M PROC_HUMAN VAR_006647 G89C PROC_HUMAN VAR_006648 H108N PROC_HUMAN VAR_006649 G109R PROC_HUMAN VAR_006651 G114R PROC_HUMAN VAR_006652 F118L PROC_HUMAN VAR_006656 G145R PROC_HUMAN VAR_006657 C147Y PROC_HUMAN VAR_006658 H149P PROC_HUMAN VAR_006659 S161R PROC_HUMAN VAR_006660 A178P PROC_HUMAN VAR_006661 C183R PROC_HUMAN VAR_006662 R189W PROC_HUMAN VAR_006663 R194C PROC_HUMAN VAR_006664 P210L PROC_HUMAN VAR_006665 R211W PROC_HUMAN VAR_006666 R211Q PROC_HUMAN VAR_006667 R220P PROC_HUMAN VAR_006668 R220W PROC_HUMAN VAR_006669 R220Q PROC_HUMAN VAR_006670 Q226H PROC_HUMAN VAR_006671 I243T PROC_HUMAN VAR_006672 H244Y PROC_HUMAN VAR_006673 H253Q PROC_HUMAN VAR_006674 L265F PROC_HUMAN VAR_006675 R271Q PROC_HUMAN VAR_006676 R271W PROC_HUMAN VAR_006677 R272C PROC_HUMAN VAR_006679 P289L PROC_HUMAN VAR_006680 S294N PROC_HUMAN VAR_006681 N298D PROC_HUMAN VAR_006682 A301T PROC_HUMAN VAR_006683 A301V PROC_HUMAN VAR_006684 A309T PROC_HUMAN VAR_006685 S312L PROC_HUMAN VAR_006686 S312P PROC_HUMAN VAR_006687 P321L PROC_HUMAN VAR_006688 G324R PROC_HUMAN VAR_006689 R328C PROC_HUMAN VAR_006690 R328H PROC_HUMAN VAR_006691 G334S PROC_HUMAN VAR_006692 T340M PROC_HUMAN VAR_006693 G343D PROC_HUMAN VAR_006695 V367A PROC_HUMAN VAR_006696 P369L PROC_HUMAN VAR_006697 M385I PROC_HUMAN VAR_006698 A388T PROC_HUMAN VAR_006699 A388V PROC_HUMAN VAR_006700 G392R PROC_HUMAN VAR_006701 R394W PROC_HUMAN VAR_006702 D401N PROC_HUMAN VAR_006703 G418D PROC_HUMAN VAR_006704 G423S PROC_HUMAN VAR_006705 C426Y PROC_HUMAN VAR_006706 G433S PROC_HUMAN VAR_006707 T436N PROC_HUMAN VAR_006708 Y441H PROC_HUMAN VAR_006709 W444C PROC_HUMAN VAR_006710 I445M PROP1_HUMAN VAR_003768 R73C PROP1_HUMAN VAR_003769 F117I PROP1_HUMAN VAR_003770 R120C PROP1_HUMAN VAR_012746 R73H PROP_HUMAN VAR_002002 R100W PROP_HUMAN VAR_002003 Q343R PROP_HUMAN VAR_002004 Y414D PROP_HUMAN VAR_013139 G298V PROS_HUMAN VAR_005566 K196E PROS_HUMAN VAR_005567 N258S PROS_HUMAN VAR_014116 G482C PROS_HUMAN VAR_014117 Y485C PROS_HUMAN VAR_014119 R561G PRP8_HUMAN VAR_022626 P2301T PRP8_HUMAN VAR_022627 F2304L PRP8_HUMAN VAR_022628 H2309P PRP8_HUMAN VAR_022629 H2309R PRP8_HUMAN VAR_022630 R2310G PRP8_HUMAN VAR_022631 R2310K PRP8_HUMAN VAR_022632 F2314L PRP8_HUMAN VAR_022633 Y2334N PRPF3_HUMAN VAR_016877 T494M PRPS1_HUMAN VAR_004163 N113S PRPS1_HUMAN VAR_004164 D182H PRPS1_HUMAN VAR_016044 D51H PRPS1_HUMAN VAR_016045 L128I PRPS1_HUMAN VAR_016046 A189V PRPS1_HUMAN VAR_016047 H192Q PSN1_HUMAN VAR_006413 A79V PSN1_HUMAN VAR_006414 V82L PSN1_HUMAN VAR_006415 V96F PSN1_HUMAN VAR_006416 Y115C PSN1_HUMAN VAR_006417 Y115H PSN1_HUMAN VAR_006418 E120D PSN1_HUMAN VAR_006419 E120K PSN1_HUMAN VAR_006420 M139I PSN1_HUMAN VAR_006421 M139T PSN1_HUMAN VAR_006422 M139V PSN1_HUMAN VAR_006423 I143F PSN1_HUMAN VAR_006424 I143T PSN1_HUMAN VAR_006425 M146I PSN1_HUMAN VAR_006426 M146L PSN1_HUMAN VAR_006427 M146V PSN1_HUMAN VAR_006428 H163R PSN1_HUMAN VAR_006429 H163Y PSN1_HUMAN VAR_006430 S169L PSN1_HUMAN VAR_006431 S169P PSN1_HUMAN VAR_006432 L171P PSN1_HUMAN VAR_006433 G209V PSN1_HUMAN VAR_006434 I213T PSN1_HUMAN VAR_006435 A231T PSN1_HUMAN VAR_006436 A231V PSN1_HUMAN VAR_006437 M233T PSN1_HUMAN VAR_006439 A246E PSN1_HUMAN VAR_006440 L250S PSN1_HUMAN VAR_006441 A260V PSN1_HUMAN VAR_006442 L262F PSN1_HUMAN VAR_006443 C263R PSN1_HUMAN VAR_006444 P264L PSN1_HUMAN VAR_006445 P267S PSN1_HUMAN VAR_006446 P267T PSN1_HUMAN VAR_006447 R269G PSN1_HUMAN VAR_006448 R269H PSN1_HUMAN VAR_006449 R278T PSN1_HUMAN VAR_006450 E280A PSN1_HUMAN VAR_006451 E280G PSN1_HUMAN VAR_006452 A285V PSN1_HUMAN VAR_006453 L286V PSN1_HUMAN VAR_006455 G378E PSN1_HUMAN VAR_006456 G384A PSN1_HUMAN VAR_006457 L392V PSN1_HUMAN VAR_006458 C410Y PSN1_HUMAN VAR_006459 A426P PSN1_HUMAN VAR_006460 P436Q PSN1_HUMAN VAR_008141 P436S PSN1_HUMAN VAR_009208 F105L PSN1_HUMAN VAR_009209 P117L PSN1_HUMAN VAR_009210 G209R PSN1_HUMAN VAR_009211 M233L PSN1_HUMAN VAR_009212 L282R PSN1_HUMAN VAR_009213 A409T PSN1_HUMAN VAR_010120 T116N PSN1_HUMAN VAR_010121 N135D PSN1_HUMAN VAR_010122 M139K PSN1_HUMAN VAR_010123 T147I PSN1_HUMAN VAR_010124 W165C PSN1_HUMAN VAR_010125 L173W PSN1_HUMAN VAR_010126 L219P PSN1_HUMAN VAR_010127 S289C PSN1_HUMAN VAR_010128 S390I PSN1_HUMAN VAR_010129 N405S PSN1_HUMAN VAR_016214 C92S PSN1_HUMAN VAR_016215 L113P PSN1_HUMAN VAR_016216 L166P PSN1_HUMAN VAR_016217 L174M PSN1_HUMAN VAR_016218 G206A PSN1_HUMAN VAR_016219 G266S PSN1_HUMAN VAR_016220 L271V PSN2_HUMAN VAR_006461 R62H PSN2_HUMAN VAR_006462 N141I PSN2_HUMAN VAR_006463 M239V PSN2_HUMAN VAR_007958 V148I PSN2_HUMAN VAR_009214 T122P PSN2_HUMAN VAR_009215 M239I PTC1_HUMAN VAR_007843 L175P PTC1_HUMAN VAR_007844 F376S PTC1_HUMAN VAR_010974 G509R PTC1_HUMAN VAR_010975 G509V PTC1_HUMAN VAR_010976 D513Y PTC1_HUMAN VAR_010979 G1069R PTC1_HUMAN VAR_010980 S1132P PTC1_HUMAN VAR_010981 S1132Y PTC1_HUMAN VAR_010984 E1438D PTC1_HUMAN VAR_020845 T230P PTEN_HUMAN VAR_007461 I67R PTEN_HUMAN VAR_007462 Y68H PTEN_HUMAN VAR_007463 H123R PTEN_HUMAN VAR_007464 C124R PTEN_HUMAN VAR_007465 G129E PTEN_HUMAN VAR_007467 R130L PTEN_HUMAN VAR_007468 R130Q PTEN_HUMAN VAR_007470 S170R PTEN_HUMAN VAR_007807 L112P PTEN_HUMAN VAR_007808 C136Y PTEN_HUMAN VAR_008036 M35R PTEN_HUMAN VAR_008734 A34D PTEN_HUMAN VAR_008735 C105Y PTEN_HUMAN VAR_008736 I135V PTEN_HUMAN VAR_008738 G165V PTEN_HUMAN VAR_008739 G165E PTEN_HUMAN VAR_008740 P246L PTEN_HUMAN VAR_008741 K289E PTEN_HUMAN VAR_008742 V343E PTEN_HUMAN VAR_008743 F347L PTEN_HUMAN VAR_011587 R47G PTEN_HUMAN VAR_018102 L70P PTEN_HUMAN VAR_018104 C124S PTHR1_HUMAN VAR_003582 H223R PTHR1_HUMAN VAR_003583 T410P PTHR1_HUMAN VAR_016062 P132L PTHR1_HUMAN VAR_016063 R150C PTHR1_HUMAN VAR_016064 I458R PTHY_HUMAN VAR_006047 C18R PTHY_HUMAN VAR_018464 S23P PTN11_HUMAN VAR_015601 T42A PTN11_HUMAN VAR_015602 G60A PTN11_HUMAN VAR_015603 D61G PTN11_HUMAN VAR_015604 D61N PTN11_HUMAN VAR_015605 Y62D PTN11_HUMAN VAR_015606 Y63C PTN11_HUMAN VAR_015607 A72G PTN11_HUMAN VAR_015608 A72S PTN11_HUMAN VAR_015609 T73I PTN11_HUMAN VAR_015610 E76D PTN11_HUMAN VAR_015611 Q79R PTN11_HUMAN VAR_015612 D106A PTN11_HUMAN VAR_015613 E139D PTN11_HUMAN VAR_015614 Y279C PTN11_HUMAN VAR_015615 I282V PTN11_HUMAN VAR_015616 F285S PTN11_HUMAN VAR_015617 F285L PTN11_HUMAN VAR_015618 N308S PTN11_HUMAN VAR_015619 N308D PTN11_HUMAN VAR_015620 I309V PTN11_HUMAN VAR_015621 T468M PTN11_HUMAN VAR_015622 R501K PTN11_HUMAN VAR_015623 S502T PTN11_HUMAN VAR_015624 M504V PTPS_HUMAN VAR_006816 R16C PTPS_HUMAN VAR_006817 R25G PTPS_HUMAN VAR_006818 R25Q PTPS_HUMAN VAR_006819 E35G PTPS_HUMAN VAR_006820 N36K PTPS_HUMAN VAR_006821 N52S PTPS_HUMAN VAR_006822 V56M PTPS_HUMAN VAR_006824 T67M PTPS_HUMAN VAR_006825 V70D PTPS_HUMAN VAR_006826 P87L PTPS_HUMAN VAR_006827 P87S PTPS_HUMAN VAR_006828 D96N PTPS_HUMAN VAR_006829 F100V PTPS_HUMAN VAR_006830 T106M PTPS_HUMAN VAR_006831 I114V PTPS_HUMAN VAR_006832 K129E PTPS_HUMAN VAR_006833 D136V PTPS_HUMAN VAR_008040 N47D PTPS_HUMAN VAR_008041 D116G PUR8_HUMAN VAR_000680 S438P PUR8_HUMAN VAR_007972 I72V PUR8_HUMAN VAR_007973 R141W PUR8_HUMAN VAR_007974 R190Q PUR8_HUMAN VAR_007975 K246E PUR8_HUMAN VAR_007976 R303C PUR8_HUMAN VAR_007977 S395R PUR8_HUMAN VAR_007978 R426H PUR8_HUMAN VAR_016930 A2V PUR8_HUMAN VAR_016931 M26L PUR8_HUMAN VAR_016932 T450S PUR8_HUMAN VAR_017078 A3V PUR8_HUMAN VAR_017079 P100A PUR8_HUMAN VAR_017080 Y114H PUR8_HUMAN VAR_017081 R194C PUR8_HUMAN VAR_017082 D268N PUR8_HUMAN VAR_017083 L311V PUR8_HUMAN VAR_017084 P318L PUR8_HUMAN VAR_017085 V364M PUR8_HUMAN VAR_017086 R374W PUR8_HUMAN VAR_017087 R396C PUR8_HUMAN VAR_017088 R396H PUR8_HUMAN VAR_017089 D422Y PUR8_HUMAN VAR_017090 L423V PUR8_HUMAN VAR_017091 D430N PUR8_HUMAN VAR_017092 S447P PUR8_HUMAN VAR_017093 R452P PUR9_HUMAN VAR_019307 K426R PYC_HUMAN VAR_008095 A610T PYC_HUMAN VAR_008096 M743I PYC_HUMAN VAR_015199 V145A PYC_HUMAN VAR_015200 R451C PYR5_HUMAN VAR_006807 R96G PYR5_HUMAN VAR_006808 V109G PYR5_HUMAN VAR_006810 G429R P_HUMAN VAR_006117 G27R P_HUMAN VAR_006118 S86R P_HUMAN VAR_006119 C112F P_HUMAN VAR_006124 A368V P_HUMAN VAR_006125 F385I P_HUMAN VAR_006126 M395L P_HUMAN VAR_006127 T404M P_HUMAN VAR_006129 R419W P_HUMAN VAR_006132 V443I P_HUMAN VAR_006133 M446V P_HUMAN VAR_006134 I473S P_HUMAN VAR_006135 N489D P_HUMAN VAR_006136 H549Q P_HUMAN VAR_006138 K614N P_HUMAN VAR_006140 W652R P_HUMAN VAR_006141 W679R P_HUMAN VAR_006143 A724P P_HUMAN VAR_006144 S736L P_HUMAN VAR_006145 P743L P_HUMAN VAR_006146 A787V P_HUMAN VAR_007940 A481T P_HUMAN VAR_020622 R10W P_HUMAN VAR_020623 P198L P_HUMAN VAR_020624 P211L P_HUMAN VAR_020625 R290G P_HUMAN VAR_020626 A334V P_HUMAN VAR_020630 M394I P_HUMAN VAR_020631 K614E P_HUMAN VAR_020632 I617L P_HUMAN VAR_020634 W679C P_HUMAN VAR_020636 R720C P_HUMAN VAR_020637 G795R P_HUMAN VAR_020638 Q799H RAB7_HUMAN VAR_018722 L129F RAB7_HUMAN VAR_018723 V162M RAC2_HUMAN VAR_017452 D57N RAE1_HUMAN VAR_008273 Q471L RAG1_HUMAN VAR_007803 R624H RAG1_HUMAN VAR_007804 E722K RAG1_HUMAN VAR_008886 R396C RAG1_HUMAN VAR_008887 R396H RAG1_HUMAN VAR_008888 D429G RAG1_HUMAN VAR_008889 R561H RAG1_HUMAN VAR_008890 R561C RAG1_HUMAN VAR_008891 R737H RAG1_HUMAN VAR_008893 L885R RAG1_HUMAN VAR_008894 Y912C RAG2_HUMAN VAR_005570 R229Q RAG2_HUMAN VAR_005571 C478Y RAG2_HUMAN VAR_008895 C41W RAG2_HUMAN VAR_008896 M285R RAPSN_HUMAN VAR_021216 L13P RAPSN_HUMAN VAR_021217 N87K RASA1_HUMAN VAR_017744 C540Y RB27A_HUMAN VAR_010654 W73G RB27A_HUMAN VAR_011334 L130P RB27A_HUMAN VAR_011335 A152P RDH12_HUMAN VAR_020858 T49M RDH12_HUMAN VAR_020859 I51N RDH12_HUMAN VAR_020860 L99I RDH12_HUMAN VAR_020861 H151D RDH12_HUMAN VAR_020862 H151N RDH12_HUMAN VAR_020863 S175P RDH12_HUMAN VAR_020864 Y226C RDH12_HUMAN VAR_020865 P230A RDH1_HUMAN VAR_009273 S73F RDH1_HUMAN VAR_009274 G238W RDH1_HUMAN VAR_016814 G35S RDH1_HUMAN VAR_016815 G107R RDH1_HUMAN VAR_016816 V132M RDH1_HUMAN VAR_016817 V164F RDH1_HUMAN VAR_016818 V177G RDH1_HUMAN VAR_016819 C267W RDH1_HUMAN VAR_016820 R280H RDH1_HUMAN VAR_016821 Y281H RDH1_HUMAN VAR_016822 A294P RDS_HUMAN VAR_006853 R13W RDS_HUMAN VAR_006854 I32V RDS_HUMAN VAR_006855 L45F RDS_HUMAN VAR_006857 G68R RDS_HUMAN VAR_006859 L126R RDS_HUMAN VAR_006860 R142W RDS_HUMAN VAR_006861 K153R RDS_HUMAN VAR_006863 D157N RDS_HUMAN VAR_006864 C165Y RDS_HUMAN VAR_006865 G167D RDS_HUMAN VAR_006866 R172G RDS_HUMAN VAR_006867 R172Q RDS_HUMAN VAR_006868 R172W RDS_HUMAN VAR_006869 D173V RDS_HUMAN VAR_006870 Y184S RDS_HUMAN VAR_006871 L185P RDS_HUMAN VAR_006873 G208D RDS_HUMAN VAR_006874 P210R RDS_HUMAN VAR_006875 P210S RDS_HUMAN VAR_006876 F211L RDS_HUMAN VAR_006877 S212G RDS_HUMAN VAR_006878 S212T RDS_HUMAN VAR_006879 C213R RDS_HUMAN VAR_006880 C214S RDS_HUMAN VAR_006881 P216L RDS_HUMAN VAR_006882 P216S RDS_HUMAN VAR_006883 P219R RDS_HUMAN VAR_006885 R220Q RDS_HUMAN VAR_006886 R220W RDS_HUMAN VAR_006887 N244K RDS_HUMAN VAR_006888 N244H RDS_HUMAN VAR_006889 G266D RDS_HUMAN VAR_006890 V268I RDS_HUMAN VAR_006892 G305D RET_HUMAN VAR_006295 S32L RET_HUMAN VAR_006296 P64L RET_HUMAN VAR_006297 G93S RET_HUMAN VAR_006298 C142S RET_HUMAN VAR_006299 R231H RET_HUMAN VAR_006300 E251K RET_HUMAN VAR_006301 R287Q RET_HUMAN VAR_006302 R330Q RET_HUMAN VAR_006303 F393L RET_HUMAN VAR_006304 P399L RET_HUMAN VAR_006305 R475Q RET_HUMAN VAR_006307 C609W RET_HUMAN VAR_006309 C611Y RET_HUMAN VAR_006310 C618G RET_HUMAN VAR_006319 C620Y RET_HUMAN VAR_006323 C634G RET_HUMAN VAR_006324 C634F RET_HUMAN VAR_006331 S690P RET_HUMAN VAR_006334 S767R RET_HUMAN VAR_006338 R873Q RET_HUMAN VAR_006339 F893L RET_HUMAN VAR_006340 R897Q RET_HUMAN VAR_006341 K907E RET_HUMAN VAR_006343 E921K RET_HUMAN VAR_006346 R972G RET_HUMAN VAR_006347 P973L RET_HUMAN VAR_006348 M980T RET_HUMAN VAR_009459 P20L RET_HUMAN VAR_009460 R77C RET_HUMAN VAR_009461 C157Y RET_HUMAN VAR_009462 F174S RET_HUMAN VAR_009463 R180P RET_HUMAN VAR_009464 C197Y RET_HUMAN VAR_009465 R313Q RET_HUMAN VAR_009466 N359K RET_HUMAN VAR_009467 R360W RET_HUMAN VAR_009468 N394K RET_HUMAN VAR_009470 C609G RET_HUMAN VAR_009471 C609R RET_HUMAN VAR_009473 C611R RET_HUMAN VAR_009474 C611S RET_HUMAN VAR_009475 C620W RET_HUMAN VAR_009476 Q626K RET_HUMAN VAR_009480 A640G RET_HUMAN VAR_009481 E762Q RET_HUMAN VAR_009484 R813Q RET_HUMAN VAR_009485 A883F RET_HUMAN VAR_009490 L1061P RET_HUMAN VAR_009491 M1064T RET_HUMAN VAR_009492 L40P RET_HUMAN VAR_009493 S765P RET_HUMAN VAR_018153 R67H RET_HUMAN VAR_018154 R114H RET_HUMAN VAR_018155 A432E RET_HUMAN VAR_018157 P1039L RGMC_HUMAN VAR_019617 C80R RGMC_HUMAN VAR_019618 S85P RGMC_HUMAN VAR_019619 G99R RGMC_HUMAN VAR_019620 L101P RGMC_HUMAN VAR_019621 A168D RGMC_HUMAN VAR_019622 F170S RGMC_HUMAN VAR_019623 D172E RGMC_HUMAN VAR_019624 W191C RGMC_HUMAN VAR_019625 S205R RGMC_HUMAN VAR_019626 I222N RGMC_HUMAN VAR_019627 G250V RGMC_HUMAN VAR_019628 R288W RGMC_HUMAN VAR_019629 G320V RGMC_HUMAN VAR_019927 C321W RGR_HUMAN VAR_017034 S66R RGS9_HUMAN VAR_017912 W299R RHAG_HUMAN VAR_006921 S79N RHAG_HUMAN VAR_015856 G279E RHAG_HUMAN VAR_015857 G280R RHAG_HUMAN VAR_015858 G380V RIMS1_HUMAN VAR_016804 R820H RK_HUMAN VAR_006215 V380D ROBO3_HUMAN VAR_019073 E319K ROBO3_HUMAN VAR_019074 R703P ROBO3_HUMAN VAR_019075 S705P ROBO3_HUMAN VAR_019119 L5P ROBO3_HUMAN VAR_019120 I66L ROBO3_HUMAN VAR_019121 G361E ROR2_HUMAN VAR_010768 R184C ROR2_HUMAN VAR_010769 R189W ROR2_HUMAN VAR_010770 R366W ROR2_HUMAN VAR_010771 N620K ROR2_HUMAN VAR_010911 C182Y RP9_HUMAN VAR_017252 H137L RP9_HUMAN VAR_017253 D170G RPE65_HUMAN VAR_017126 L21P RPE65_HUMAN VAR_017127 G39S RPE65_HUMAN VAR_017128 R43Q RPE65_HUMAN VAR_017129 H67Y RPE65_HUMAN VAR_017130 R90W RPE65_HUMAN VAR_017131 R90Q RPE65_HUMAN VAR_017132 A131T RPE65_HUMAN VAR_017133 Y143D RPE65_HUMAN VAR_017134 H181Y RPE65_HUMAN VAR_017135 V286F RPE65_HUMAN VAR_017136 N320K RPE65_HUMAN VAR_017137 L340S RPE65_HUMAN VAR_017138 P362T RPE65_HUMAN VAR_017139 Y367H RPE65_HUMAN VAR_017140 A392G RPE65_HUMAN VAR_017141 E416Q RPE65_HUMAN VAR_017142 V451G RPE65_HUMAN VAR_018151 Y430C RPGR1_HUMAN VAR_017833 G746E RPGR1_HUMAN VAR_017834 R827L RPGR_HUMAN VAR_006850 F130C RPGR_HUMAN VAR_006851 P235S RPGR_HUMAN VAR_006852 G275S RPGR_HUMAN VAR_008501 G60V RPGR_HUMAN VAR_008503 I75V RPGR_HUMAN VAR_008504 H98Q RPGR_HUMAN VAR_008505 G215V RPGR_HUMAN VAR_008506 C250R RPGR_HUMAN VAR_008507 A262G RPGR_HUMAN VAR_008510 G436D RPGR_HUMAN VAR_011561 C302R RPGR_HUMAN VAR_013625 T99N RPGR_HUMAN VAR_013626 I289V RPGR_HUMAN VAR_018057 G43E RPGR_HUMAN VAR_018058 G43R RPGR_HUMAN VAR_018059 R127G RPGR_HUMAN VAR_018060 G173R RPGR_HUMAN VAR_018061 C250Y RPGR_HUMAN VAR_018063 G267E RPGR_HUMAN VAR_018064 C302Y RPGR_HUMAN VAR_018065 D312N RPGR_HUMAN VAR_018066 D312Y RPGR_HUMAN VAR_018067 G320R RPIA_HUMAN VAR_019122 A61V RS19_HUMAN VAR_006924 R61W RS19_HUMAN VAR_018437 R55Q RS19_HUMAN VAR_018438 V14F RS19_HUMAN VAR_018439 L17P RS19_HUMAN VAR_018440 P46L RS19_HUMAN VAR_018441 W51R RS19_HUMAN VAR_018442 T54M RS19_HUMAN VAR_018443 A60E RS19_HUMAN VAR_018444 R61Q RS19_HUMAN VAR_018445 R100H RS19_HUMAN VAR_018446 G119R RS19_HUMAN VAR_018447 L130P RUNX1_HUMAN VAR_012128 R139Q RUNX1_HUMAN VAR_012129 R174Q RUNX2_HUMAN VAR_012132 L113R RUNX2_HUMAN VAR_012133 S118R RUNX2_HUMAN VAR_012134 F121C RUNX2_HUMAN VAR_012135 C123R RUNX2_HUMAN VAR_012137 R169Q RUNX2_HUMAN VAR_012138 M175R RUNX2_HUMAN VAR_012139 R190Q RUNX2_HUMAN VAR_012140 R190W RUNX2_HUMAN VAR_012141 S191N RUNX2_HUMAN VAR_012142 R193C RUNX2_HUMAN VAR_012143 F197S RUNX2_HUMAN VAR_012144 L199F RUNX2_HUMAN VAR_012145 T200A RUNX2_HUMAN VAR_012146 T205R RUNX2_HUMAN VAR_012147 Q209R RUNX2_HUMAN VAR_012148 R225Q RUNX2_HUMAN VAR_012149 R225W RUNX2_HUMAN VAR_012150 G511S RYR1_HUMAN VAR_005589 C35R RYR1_HUMAN VAR_005590 R163C RYR1_HUMAN VAR_005592 G341R RYR1_HUMAN VAR_005593 I403M RYR1_HUMAN VAR_005595 Y522S RYR1_HUMAN VAR_005596 R552W RYR1_HUMAN VAR_005597 R614C RYR1_HUMAN VAR_005598 R614L RYR1_HUMAN VAR_005601 R2163C RYR1_HUMAN VAR_005602 R2163H RYR1_HUMAN VAR_005603 V2168M RYR1_HUMAN VAR_005604 T2206M RYR1_HUMAN VAR_005605 G2434R RYR1_HUMAN VAR_005606 R2435H RYR1_HUMAN VAR_005607 S2459C RYR1_HUMAN VAR_005608 S2459H RYR1_HUMAN VAR_008971 R533H RYR1_HUMAN VAR_008972 R2163P RYR1_HUMAN VAR_008973 T2206R RYR1_HUMAN VAR_008974 R2435L RYR1_HUMAN VAR_008975 R2454C RYR1_HUMAN VAR_008976 R2454H RYR1_HUMAN VAR_008977 R2458C RYR1_HUMAN VAR_008978 R2458H RYR2_HUMAN VAR_011395 L433P RYR2_HUMAN VAR_011396 S2246L RYR2_HUMAN VAR_011397 P2328S RYR2_HUMAN VAR_011398 N2386I RYR2_HUMAN VAR_011399 R2474S RYR2_HUMAN VAR_011400 N4104K RYR2_HUMAN VAR_011401 Q4201R RYR2_HUMAN VAR_011402 R4497C RYR2_HUMAN VAR_011403 V4653F S12A1_HUMAN VAR_010223 V272F S12A1_HUMAN VAR_010224 D648N S12A3_HUMAN VAR_007113 R209W S12A3_HUMAN VAR_007114 P349L S12A3_HUMAN VAR_007115 C421R S12A3_HUMAN VAR_007116 D486N S12A3_HUMAN VAR_007117 G496C S12A3_HUMAN VAR_007119 A588V S12A3_HUMAN VAR_007120 G630V S12A3_HUMAN VAR_007121 R655H S12A3_HUMAN VAR_007122 R655L S12A3_HUMAN VAR_007123 A728T S12A3_HUMAN VAR_007124 G741R S12A3_HUMAN VAR_007125 L850P S12A3_HUMAN VAR_007126 R955Q S17A5_HUMAN VAR_018684 R39C S17A5_HUMAN VAR_018685 K136E S17A5_HUMAN VAR_018686 H183R S17A5_HUMAN VAR_018688 P334R S17A5_HUMAN VAR_018689 G371V S19A2_HUMAN VAR_010248 G172D S19A2_HUMAN VAR_010249 D93H S19A2_HUMAN VAR_010250 S143F S26A2_HUMAN VAR_007434 G255E S26A2_HUMAN VAR_007435 R279W S26A2_HUMAN VAR_007437 N425D S26A2_HUMAN VAR_007438 G678V S26A2_HUMAN VAR_007439 A715V S26A2_HUMAN VAR_018655 C653S S26A3_HUMAN VAR_007428 G120S S26A3_HUMAN VAR_007429 H124L S26A3_HUMAN VAR_007430 P131R S26A3_HUMAN VAR_012777 S206P S26A3_HUMAN VAR_012778 D468V S3TC2_HUMAN VAR_018268 R529Q S3TC2_HUMAN VAR_018269 E657K S3TC2_HUMAN VAR_018270 R658C S40A1_HUMAN VAR_022594 A77D S40A1_HUMAN VAR_022595 N144H S40A1_HUMAN VAR_022596 D157G S40A1_HUMAN VAR_022598 Q182H S40A1_HUMAN VAR_022599 G323V S5A2_HUMAN VAR_005609 R246W S5A2_HUMAN VAR_013105 L55Q S5A2_HUMAN VAR_013106 G115D S5A2_HUMAN VAR_013108 G183S S5A2_HUMAN VAR_013109 G196S S5A2_HUMAN VAR_013110 E197D S5A2_HUMAN VAR_013111 P212R S5A2_HUMAN VAR_013112 A228T S5A2_HUMAN VAR_013113 H231R S5A2_HUMAN VAR_013130 G85D S5A2_HUMAN VAR_013132 E200K S5A2_HUMAN VAR_013133 S245Y S5A2_HUMAN VAR_013134 R246Q S6A19_HUMAN VAR_023314 R57C S6A19_HUMAN VAR_023315 D173N S6A19_HUMAN VAR_023317 L242P S6A19_HUMAN VAR_023319 E501K SAP3_HUMAN VAR_006947 C138R SAP3_HUMAN VAR_011698 R169P SAP_HUMAN VAR_006943 T217I SAR1B_HUMAN VAR_016807 D137N SAR1B_HUMAN VAR_016808 S179R SBDS_HUMAN VAR_015390 N8K SBDS_HUMAN VAR_015391 E44G SBDS_HUMAN VAR_015392 K67E SBDS_HUMAN VAR_015393 I87S SBDS_HUMAN VAR_015394 R126T SBDS_HUMAN VAR_015395 R169C SBDS_HUMAN VAR_015396 I212T SC5A1_HUMAN VAR_007168 D28N SC5A1_HUMAN VAR_013630 D28G SC5A1_HUMAN VAR_021502 R135W SC5A1_HUMAN VAR_021503 G318R SC5A1_HUMAN VAR_021504 A468V SC5A2_HUMAN VAR_019310 N654S SC5A5_HUMAN VAR_010263 G93R SC5A5_HUMAN VAR_010265 Q267E SC5A5_HUMAN VAR_010266 T354P SC5A5_HUMAN VAR_010267 G395R SC5A5_HUMAN VAR_010269 G543E SC5D_HUMAN VAR_014423 R29Q SC5D_HUMAN VAR_014424 G211D SC5D_HUMAN VAR_020829 Y46S SC6A2_HUMAN VAR_010022 A457P SCN1A_HUMAN VAR_010110 T875M SCN1A_HUMAN VAR_010111 R1648H SCN1A_HUMAN VAR_014267 D188V SCN1A_HUMAN VAR_014268 L986F SCN1A_HUMAN VAR_014270 W1204R SCN1A_HUMAN VAR_014271 K1270T SCN1A_HUMAN VAR_014272 V1353L SCN1A_HUMAN VAR_014273 I1656M SCN1B_HUMAN VAR_010165 C121W SCN4A_HUMAN VAR_001562 T704M SCN4A_HUMAN VAR_001563 S804F SCN4A_HUMAN VAR_001565 A1156T SCN4A_HUMAN VAR_001566 V1293I SCN4A_HUMAN VAR_001567 G1306A SCN4A_HUMAN VAR_001568 G1306E SCN4A_HUMAN VAR_001569 G1306V SCN4A_HUMAN VAR_001570 T1313M SCN4A_HUMAN VAR_001571 L1433R SCN4A_HUMAN VAR_001572 R1448C SCN4A_HUMAN VAR_001573 R1448H SCN4A_HUMAN VAR_001574 V1589M SCN4A_HUMAN VAR_001575 M1592V SCN4A_HUMAN VAR_017788 R669H SCN4A_HUMAN VAR_017789 R672G SCN4A_HUMAN VAR_017790 R672H SCN4A_HUMAN VAR_017791 R672S SCN4A_HUMAN VAR_017792 P1158S SCN4A_HUMAN VAR_022341 A1152D SCN5A_HUMAN VAR_001577 N1325S SCN5A_HUMAN VAR_001578 R1623Q SCN5A_HUMAN VAR_001579 R1644H SCN5A_HUMAN VAR_001580 D1790G SCN5A_HUMAN VAR_001581 D1839G SCN5A_HUMAN VAR_008956 T1304M SCN5A_HUMAN VAR_008958 T1645M SCN5A_HUMAN VAR_008959 E1784K SCN5A_HUMAN VAR_009935 D1114N SCN5A_HUMAN VAR_009936 L1501V SCN5A_HUMAN VAR_009937 R1623L SCN5A_HUMAN VAR_009938 S1787N SCN5A_HUMAN VAR_015682 L619F SCN5A_HUMAN VAR_017670 T220I SCN5A_HUMAN VAR_017671 G298S SCN5A_HUMAN VAR_017672 R367H SCN5A_HUMAN VAR_017674 A735V SCN5A_HUMAN VAR_017675 S941N SCN5A_HUMAN VAR_017676 A997S SCN5A_HUMAN VAR_017678 R1193Q SCN5A_HUMAN VAR_017679 R1232W SCN5A_HUMAN VAR_017680 P1298L SCN5A_HUMAN VAR_017681 G1408R SCN5A_HUMAN VAR_017682 R1512W SCN5A_HUMAN VAR_017683 D1595N SCN5A_HUMAN VAR_017684 T1620M SCN5A_HUMAN VAR_017685 S1710L SCN5A_HUMAN VAR_017687 R1826H SCN5A_HUMAN VAR_017688 A1924T SCN5A_HUMAN VAR_019123 Y1795C SCN5A_HUMAN VAR_019124 Y1795H SCN9A_HUMAN VAR_019947 I859T SCN9A_HUMAN VAR_019948 L869H SCNAA_HUMAN VAR_015834 S562L SCNNB_HUMAN VAR_007127 G37S SCNNB_HUMAN VAR_007128 P616L SCNNB_HUMAN VAR_007129 P616S SCO1_HUMAN VAR_012109 P174L SCO2_HUMAN VAR_008874 E140K SCO2_HUMAN VAR_008875 S225F SCO2_HUMAN VAR_013238 R171W SCOT_HUMAN VAR_000696 V133E SCOT_HUMAN VAR_000697 C456F SCOT_HUMAN VAR_010337 G219E SCOT_HUMAN VAR_010338 V221M SCOT_HUMAN VAR_010339 G324E SERA_HUMAN VAR_013461 V424M SERA_HUMAN VAR_013462 V489M SERB_HUMAN VAR_022378 D32N SERB_HUMAN VAR_022379 M52T SETX_HUMAN VAR_018776 T3I SETX_HUMAN VAR_018777 W305C SETX_HUMAN VAR_018778 R332W SETX_HUMAN VAR_018779 L389S SETX_HUMAN VAR_018780 P413L SETX_HUMAN VAR_018788 F1756S SETX_HUMAN VAR_018790 R2136H SETX_HUMAN VAR_018791 P2213L SGCA_HUMAN VAR_010387 R77C SGCA_HUMAN VAR_010388 R98H SGCA_HUMAN VAR_010389 V175A SGCA_HUMAN VAR_010390 R284C SGCA_HUMAN VAR_010402 P30L SGCA_HUMAN VAR_010403 L31P SGCA_HUMAN VAR_010404 R34C SGCA_HUMAN VAR_010405 R34H SGCA_HUMAN VAR_010406 Y62H SGCA_HUMAN VAR_010407 G68E SGCA_HUMAN VAR_010408 R74W SGCA_HUMAN VAR_010409 L89P SGCA_HUMAN VAR_010410 G91R SGCA_HUMAN VAR_010413 R98C SGCA_HUMAN VAR_010415 I124T SGCA_HUMAN VAR_010416 E137K SGCA_HUMAN VAR_010419 P205H SGCA_HUMAN VAR_010420 V242A SGCA_HUMAN VAR_010431 L173P SGCA_HUMAN VAR_010433 V247M SGCB_HUMAN VAR_010391 R91L SGCB_HUMAN VAR_010392 R91P SGCB_HUMAN VAR_010393 M100K SGCB_HUMAN VAR_010394 L108R SGCB_HUMAN VAR_010395 T151R SGCB_HUMAN VAR_010422 R91C SGCB_HUMAN VAR_010424 I119F SGCB_HUMAN VAR_010426 G167S SGCD_HUMAN VAR_010396 E262K SGCD_HUMAN VAR_013181 S151A SGCG_HUMAN VAR_010398 C282Y SGCG_HUMAN VAR_010430 G68D SGCG_HUMAN VAR_012202 G68R SH21A_HUMAN VAR_005612 R32T SH21A_HUMAN VAR_005613 T68I SH21A_HUMAN VAR_005614 P101L SH21A_HUMAN VAR_018307 R55L SHH_HUMAN VAR_003619 G31R SHH_HUMAN VAR_003620 W117G SHH_HUMAN VAR_003621 W117R SHH_HUMAN VAR_009163 D88V SHH_HUMAN VAR_009164 Q100H SHH_HUMAN VAR_009165 N115K SHH_HUMAN VAR_009166 E188Q SHH_HUMAN VAR_009167 D222N SHH_HUMAN VAR_009168 V224E SHH_HUMAN VAR_009169 A226T SHH_HUMAN VAR_009170 S236R SHH_HUMAN VAR_009172 G290D SHH_HUMAN VAR_009174 A383T SHH_HUMAN VAR_009176 P424A SHH_HUMAN VAR_009177 S436L SHH_HUMAN VAR_017883 I111F SHOX_HUMAN VAR_012346 R173C SHOX_HUMAN VAR_019414 L132V SHOX_HUMAN VAR_019415 R153L SHOX_HUMAN VAR_019416 R168W SIX3_HUMAN VAR_003771 L226V SIX3_HUMAN VAR_003772 V250A SIX3_HUMAN VAR_003773 R257P SLC31_HUMAN VAR_011420 P128Q SLC31_HUMAN VAR_011421 R181Q SLC31_HUMAN VAR_011422 E268K SLC31_HUMAN VAR_011423 T341A SLC31_HUMAN VAR_011424 R365W SLC31_HUMAN VAR_011425 R452W SLC31_HUMAN VAR_011426 Y461H SLC31_HUMAN VAR_011427 M467T SLC31_HUMAN VAR_011428 M467K SLC31_HUMAN VAR_011429 Y582H SLC31_HUMAN VAR_011430 P615T SLC31_HUMAN VAR_011432 F648S SLC31_HUMAN VAR_011433 T652R SLC31_HUMAN VAR_011434 L678P SLC31_HUMAN VAR_022600 T216M SLC31_HUMAN VAR_022601 R362C SLC31_HUMAN VAR_022602 P508A SLUG_HUMAN VAR_009873 D119E SMAD4_HUMAN VAR_019571 G352R SMAD4_HUMAN VAR_019572 R361C SMAD4_HUMAN VAR_019573 G386D SMAD4_HUMAN VAR_022833 E330G SMAL1_HUMAN VAR_021370 A468P SMAL1_HUMAN VAR_021371 I548N SMAL1_HUMAN VAR_021372 S579L SMAL1_HUMAN VAR_021373 R586W SMAL1_HUMAN VAR_021374 R644W SMAL1_HUMAN VAR_021375 R645C SMAL1_HUMAN VAR_021376 K647Q SMAL1_HUMAN VAR_021377 K647T SMAL1_HUMAN VAR_021379 T705I SMAL1_HUMAN VAR_021381 R764Q SMAL1_HUMAN VAR_021382 R820H SMBP2_HUMAN VAR_022321 L192P SMBP2_HUMAN VAR_022322 H213R SMBP2_HUMAN VAR_022323 T221A SMBP2_HUMAN VAR_022324 C241R SMBP2_HUMAN VAR_022325 E334K SMBP2_HUMAN VAR_022326 L361P SMBP2_HUMAN VAR_022327 L364P SMBP2_HUMAN VAR_022328 E382K SMBP2_HUMAN VAR_022329 L426P SMBP2_HUMAN VAR_022330 E514K SMBP2_HUMAN VAR_022331 D565N SMBP2_HUMAN VAR_022333 L577P SMBP2_HUMAN VAR_022334 V580I SMBP2_HUMAN VAR_022335 N583I SMBP2_HUMAN VAR_022336 G586C SMBP2_HUMAN VAR_022337 R603H SMBP2_HUMAN VAR_022338 R637C SMBP2_HUMAN VAR_022339 T879K SMBP2_HUMAN VAR_022340 D974E SMN_HUMAN VAR_005615 A2G SMN_HUMAN VAR_005616 S262I SMN_HUMAN VAR_005617 Y272C SMN_HUMAN VAR_005618 T274I SMN_HUMAN VAR_005619 G275S SMN_HUMAN VAR_005620 G279V SMN_HUMAN VAR_007990 G279C SMN_HUMAN VAR_010051 P245L SODC_HUMAN VAR_007130 A4T SODC_HUMAN VAR_007131 A4V SODC_HUMAN VAR_007132 V7E SODC_HUMAN VAR_007133 V14M SODC_HUMAN VAR_007135 E21K SODC_HUMAN VAR_007136 G37R SODC_HUMAN VAR_007137 L38V SODC_HUMAN VAR_007138 G41S SODC_HUMAN VAR_007139 G41D SODC_HUMAN VAR_007140 H43R SODC_HUMAN VAR_007141 H46R SODC_HUMAN VAR_007142 H48Q SODC_HUMAN VAR_007143 L84V SODC_HUMAN VAR_007144 G85R SODC_HUMAN VAR_007145 D90A SODC_HUMAN VAR_007146 G93A SODC_HUMAN VAR_007147 G93C SODC_HUMAN VAR_007148 G93D SODC_HUMAN VAR_007149 G93R SODC_HUMAN VAR_007150 E100G SODC_HUMAN VAR_007151 D101G SODC_HUMAN VAR_007152 D101N SODC_HUMAN VAR_007153 L106V SODC_HUMAN VAR_007154 I112T SODC_HUMAN VAR_007155 I113T SODC_HUMAN VAR_007156 R115G SODC_HUMAN VAR_007157 D125H SODC_HUMAN VAR_007158 S134N SODC_HUMAN VAR_007159 N139K SODC_HUMAN VAR_007160 L144F SODC_HUMAN VAR_007161 V148G SODC_HUMAN VAR_007162 V148I SODC_HUMAN VAR_007163 I149T SODC_HUMAN VAR_007164 I151T SODC_HUMAN VAR_008717 C6F SODC_HUMAN VAR_008718 G72S SODC_HUMAN VAR_008719 G93V SODC_HUMAN VAR_008720 I104F SODC_HUMAN VAR_008722 D124V SODC_HUMAN VAR_008724 L144S SODC_HUMAN VAR_008725 A145T SODC_HUMAN VAR_013518 A4S SODC_HUMAN VAR_013519 L8Q SODC_HUMAN VAR_013520 L8V SODC_HUMAN VAR_013521 G12R SODC_HUMAN VAR_013522 V14G SODC_HUMAN VAR_013523 E21G SODC_HUMAN VAR_013524 L38R SODC_HUMAN VAR_013525 F45C SODC_HUMAN VAR_013526 E49K SODC_HUMAN VAR_013527 N65S SODC_HUMAN VAR_013528 L67R SODC_HUMAN VAR_013529 D76Y SODC_HUMAN VAR_013530 L84F SODC_HUMAN VAR_013531 N86S SODC_HUMAN VAR_013532 A89V SODC_HUMAN VAR_013533 D90V SODC_HUMAN VAR_013534 E100K SODC_HUMAN VAR_013535 S105L SODC_HUMAN VAR_013536 G108V SODC_HUMAN VAR_013537 I112M SODC_HUMAN VAR_013538 G114A SODC_HUMAN VAR_013539 L126S SODC_HUMAN VAR_013540 C146R SOMA_HUMAN VAR_015801 L16P SOMA_HUMAN VAR_015802 D37N SOMA_HUMAN VAR_015803 R42C SOMA_HUMAN VAR_015804 T53I SOMA_HUMAN VAR_015805 K67R SOMA_HUMAN VAR_015806 N73D SOMA_HUMAN VAR_015807 S97F SOMA_HUMAN VAR_015808 E100K SOMA_HUMAN VAR_015809 R103C SOMA_HUMAN VAR_015810 Q117L SOMA_HUMAN VAR_015811 S134C SOMA_HUMAN VAR_015812 S134R SOMA_HUMAN VAR_015813 D138G SOMA_HUMAN VAR_015814 T201A SOMA_HUMAN VAR_015815 R209H SOX10_HUMAN VAR_021386 S135T SOX18_HUMAN VAR_016210 W95R SOX18_HUMAN VAR_016211 A104P SOX9_HUMAN VAR_003735 P108L SOX9_HUMAN VAR_003736 F112L SOX9_HUMAN VAR_003737 F112S SOX9_HUMAN VAR_003738 A119V SOX9_HUMAN VAR_003739 W143R SOX9_HUMAN VAR_003740 R152P SOX9_HUMAN VAR_003741 P170R SOX9_HUMAN VAR_008529 F154L SOX9_HUMAN VAR_008530 A158T SOX9_HUMAN VAR_008531 H165Y SPAST_HUMAN VAR_010194 S44L SPAST_HUMAN VAR_010195 S362C SPAST_HUMAN VAR_010196 R424G SPAST_HUMAN VAR_010197 C448Y SPAST_HUMAN VAR_010198 R499C SPAST_HUMAN VAR_010199 D584H SPAST_HUMAN VAR_019439 L378Q SPAST_HUMAN VAR_019440 N386S SPAST_HUMAN VAR_019441 M390V SPAST_HUMAN VAR_019442 R503L SPAST_HUMAN VAR_019444 L534P SPAST_HUMAN VAR_019445 T614I SPAST_HUMAN VAR_019448 I344K SPAST_HUMAN VAR_019450 S407R SPAST_HUMAN VAR_019451 A551Y SPAST_HUMAN VAR_019452 T615I SPG3A_HUMAN VAR_017146 R217Q SPG3A_HUMAN VAR_017147 R239C SPG3A_HUMAN VAR_017148 H258R SPG3A_HUMAN VAR_017149 S259Y SPG3A_HUMAN VAR_019446 A161P SPG3A_HUMAN VAR_019447 H247P SPHM_HUMAN VAR_007388 Y40N SPHM_HUMAN VAR_007389 A44T SPHM_HUMAN VAR_007390 S66W SPHM_HUMAN VAR_007391 R74C SPHM_HUMAN VAR_007392 R74H SPHM_HUMAN VAR_007393 T79P SPHM_HUMAN VAR_007395 Q85R SPHM_HUMAN VAR_007396 G90R SPHM_HUMAN VAR_007397 G122R SPHM_HUMAN VAR_007398 P128L SPHM_HUMAN VAR_007399 V131M SPHM_HUMAN VAR_007400 T139M SPHM_HUMAN VAR_007401 L146P SPHM_HUMAN VAR_007402 R150Q SPHM_HUMAN VAR_007403 D179N SPHM_HUMAN VAR_007404 R182C SPHM_HUMAN VAR_007405 F193L SPHM_HUMAN VAR_007406 R206P SPHM_HUMAN VAR_007408 P227R SPHM_HUMAN VAR_007409 A234G SPHM_HUMAN VAR_007410 D235V SPHM_HUMAN VAR_007411 R245H SPHM_HUMAN VAR_007412 S298P SPHM_HUMAN VAR_007413 T321A SPHM_HUMAN VAR_007414 A354P SPHM_HUMAN VAR_007416 S364R SPHM_HUMAN VAR_007417 E369K SPHM_HUMAN VAR_007418 R377C SPHM_HUMAN VAR_007419 R377H SPHM_HUMAN VAR_007420 Q380R SPHM_HUMAN VAR_007421 L386R SPHM_HUMAN VAR_007422 N389K SPHM_HUMAN VAR_007423 E447K SPTA1_HUMAN VAR_001324 I24S SPTA1_HUMAN VAR_001325 R28H SPTA1_HUMAN VAR_001326 R28L SPTA1_HUMAN VAR_001327 R28S SPTA1_HUMAN VAR_001328 R28C SPTA1_HUMAN VAR_001329 V31A SPTA1_HUMAN VAR_001330 R34W SPTA1_HUMAN VAR_001331 R41W SPTA1_HUMAN VAR_001332 R45S SPTA1_HUMAN VAR_001333 R45T SPTA1_HUMAN VAR_001334 G46V SPTA1_HUMAN VAR_001335 K48R SPTA1_HUMAN VAR_001336 L49F SPTA1_HUMAN VAR_001337 G151D SPTA1_HUMAN VAR_001339 L207P SPTA1_HUMAN VAR_001340 L260P SPTA1_HUMAN VAR_001341 S261P SPTA1_HUMAN VAR_001342 H469P SPTA1_HUMAN VAR_001344 Q471P SPTA1_HUMAN VAR_001346 D791E SPTB1_HUMAN VAR_001357 A2017G SPTB1_HUMAN VAR_001358 S2018P SPTB1_HUMAN VAR_001359 A2022V SPTB1_HUMAN VAR_001360 W2023R SPTB1_HUMAN VAR_001361 L2024R SPTB1_HUMAN VAR_001362 A2052P SPYA_HUMAN VAR_000588 G41R SPYA_HUMAN VAR_000589 F152I SPYA_HUMAN VAR_000590 G170R SPYA_HUMAN VAR_000591 S187F SPYA_HUMAN VAR_000592 S205P SPYA_HUMAN VAR_008878 G82E SPYA_HUMAN VAR_008879 R233C SPYA_HUMAN VAR_008880 R233H SPYA_HUMAN VAR_008881 I244T SPYA_HUMAN VAR_010969 G41V SPYA_HUMAN VAR_010971 G116R SPYA_HUMAN VAR_010972 G156R SPYA_HUMAN VAR_010973 D183N SQSTM_HUMAN VAR_023592 P387L SQSTM_HUMAN VAR_023593 P392L SQSTM_HUMAN VAR_023594 S399P SQSTM_HUMAN VAR_023595 M404T SQSTM_HUMAN VAR_023596 M404V SQSTM_HUMAN VAR_023597 G411S SQSTM_HUMAN VAR_023598 G425R SRY_HUMAN VAR_003717 S18N SRY_HUMAN VAR_003718 V60A SRY_HUMAN VAR_003719 V60L SRY_HUMAN VAR_003720 R62G SRY_HUMAN VAR_003721 M64I SRY_HUMAN VAR_003722 I68T SRY_HUMAN VAR_003723 M78T SRY_HUMAN VAR_003724 I90M SRY_HUMAN VAR_003725 S91G SRY_HUMAN VAR_003726 G95R SRY_HUMAN VAR_003727 L101H SRY_HUMAN VAR_003728 K106I SRY_HUMAN VAR_003729 P108R SRY_HUMAN VAR_003730 F109S SRY_HUMAN VAR_003731 A113T SRY_HUMAN VAR_003732 P125L SRY_HUMAN VAR_003733 Y127C SRY_HUMAN VAR_003734 R133W SRY_HUMAN VAR_017298 M64R SRY_HUMAN VAR_017299 F67V SRY_HUMAN VAR_017300 R76S SRY_HUMAN VAR_017301 N87Y SRY_HUMAN VAR_017302 G95E SRY_HUMAN VAR_017303 Y127F SRY_HUMAN VAR_017304 P131R STA5B_HUMAN VAR_018728 A630P STAR_HUMAN VAR_005627 R182L STAR_HUMAN VAR_014236 E169G STAR_HUMAN VAR_014237 E169K STAR_HUMAN VAR_014238 R217T STAR_HUMAN VAR_014239 A218V STAR_HUMAN VAR_014240 M225T STAR_HUMAN VAR_014242 L275P STAT1_HUMAN VAR_018265 L600P STAT1_HUMAN VAR_018266 L706S STF1_HUMAN VAR_004737 G35E STF1_HUMAN VAR_016982 R92Q STF1_HUMAN VAR_016983 R255L STK11_HUMAN VAR_006202 L67P STK11_HUMAN VAR_007921 D194N STK11_HUMAN VAR_007922 R297K STS_HUMAN VAR_007240 S341L STS_HUMAN VAR_007241 W372R STS_HUMAN VAR_007242 C446Y STS_HUMAN VAR_014020 W372S STS_HUMAN VAR_014021 G380R STS_HUMAN VAR_014022 H444R STS_HUMAN VAR_014023 Q560P SUIS_HUMAN VAR_007854 Q1097P SUMF1_HUMAN VAR_016053 S155P SUMF1_HUMAN VAR_016054 C218Y SUMF1_HUMAN VAR_016055 A279V SUMF1_HUMAN VAR_016056 C336R SUMF1_HUMAN VAR_016057 R345C SUMF1_HUMAN VAR_016058 A348P SUMF1_HUMAN VAR_016059 R349Q SUMF1_HUMAN VAR_016060 R349W SUMF1_HUMAN VAR_019050 L20F SUMF1_HUMAN VAR_019051 A177P SUMF1_HUMAN VAR_019052 R224W SUMF1_HUMAN VAR_019053 N259I SUMF1_HUMAN VAR_019054 P266L SUOX_HUMAN VAR_002200 R160Q SUOX_HUMAN VAR_002201 A208D SUOX_HUMAN VAR_002202 S370Y SUOX_HUMAN VAR_002203 G473D SUOX_HUMAN VAR_015724 I201L SUOX_HUMAN VAR_015725 R211Q SUOX_HUMAN VAR_015726 G305S SUOX_HUMAN VAR_015727 R309H SUOX_HUMAN VAR_015728 K322R SUOX_HUMAN VAR_015729 Q339R SUOX_HUMAN VAR_015730 W393R SURF1_HUMAN VAR_007450 G124E SURF1_HUMAN VAR_007452 I246T SURF1_HUMAN VAR_015258 G124R SURF1_HUMAN VAR_015259 Y274D SYG_HUMAN VAR_018718 E125G SYG_HUMAN VAR_018719 L183P SYG_HUMAN VAR_018720 G294R SYG_HUMAN VAR_018721 G580R SYUA_HUMAN VAR_007454 A53T SYUA_HUMAN VAR_007957 A30P SYUA_HUMAN VAR_022703 E46K TAU_HUMAN VAR_010345 G588V TAU_HUMAN VAR_010346 N595K TAU_HUMAN VAR_010348 P617L TAU_HUMAN VAR_010349 P617S TAU_HUMAN VAR_010350 S621N TAU_HUMAN VAR_010351 V653M TAU_HUMAN VAR_019660 R4H TAU_HUMAN VAR_019661 R4L TAU_HUMAN VAR_019662 L582V TAU_HUMAN VAR_019663 N612H TAU_HUMAN VAR_019666 E658V TAZ_HUMAN VAR_014110 R94S TAZ_HUMAN VAR_014111 C118R TAZ_HUMAN VAR_014112 G197R TBX19_HUMAN VAR_018387 S128F TBX22_HUMAN VAR_015383 G118C TBX22_HUMAN VAR_015384 T260M TBX22_HUMAN VAR_021829 L214P TBX22_HUMAN VAR_021830 N264Y TBX22_HUMAN VAR_021831 M121V TBX22_HUMAN VAR_021832 P183L TBX3_HUMAN VAR_009601 L143P TBX3_HUMAN VAR_009602 Y149S TBX5_HUMAN VAR_007456 R237Q TBX5_HUMAN VAR_009701 G80R TBX5_HUMAN VAR_009702 R237W TBX5_HUMAN VAR_015381 Q49K TBX5_HUMAN VAR_015382 I54T TCOF_HUMAN VAR_005630 W53R TECTA_HUMAN VAR_018970 C1057S TECTA_HUMAN VAR_018971 C1619S TECTA_HUMAN VAR_018973 L1820F TECTA_HUMAN VAR_018974 G1824D TECTA_HUMAN VAR_018976 Y1870C TELT_HUMAN VAR_015397 R87Q TF2H5_HUMAN VAR_022646 M1T TF2H5_HUMAN VAR_022647 L21P TFR2_HUMAN VAR_012738 M172K TGFB1_HUMAN VAR_017607 Y81H TGFB1_HUMAN VAR_017608 R218C TGFB1_HUMAN VAR_017609 R218H TGFB1_HUMAN VAR_017610 H222D TGFB1_HUMAN VAR_017611 C225R TGFR1_HUMAN VAR_022344 T200I TGFR1_HUMAN VAR_022345 M318R TGFR1_HUMAN VAR_022346 D400G TGFR1_HUMAN VAR_022347 R487P TGFR2_HUMAN VAR_022351 L308P TGFR2_HUMAN VAR_022352 Y336N TGFR2_HUMAN VAR_022353 A355P TGFR2_HUMAN VAR_022354 G357W TGFR2_HUMAN VAR_022358 S449F TGFR2_HUMAN VAR_022360 R528C TGFR2_HUMAN VAR_022361 R528H TGFR2_HUMAN VAR_022362 R537C TGIF_HUMAN VAR_009961 S157C TGIF_HUMAN VAR_009962 P192R TGIF_HUMAN VAR_009963 T280A TGIF_HUMAN VAR_009964 S291F TGM1_HUMAN VAR_007476 R142H TGM1_HUMAN VAR_007477 R143C TGM1_HUMAN VAR_007478 R143H TGM1_HUMAN VAR_007479 G218S TGM1_HUMAN VAR_007480 V379L TGM1_HUMAN VAR_007481 R396L TGM1_HUMAN VAR_015220 S42Y TGM1_HUMAN VAR_015221 R323Q TGM1_HUMAN VAR_015222 R389H TGM1_HUMAN VAR_020918 D102V TGM1_HUMAN VAR_020919 N289T TGM1_HUMAN VAR_020920 R307W THB1_HUMAN VAR_004632 A234T THB1_HUMAN VAR_004633 R243W THB1_HUMAN VAR_004634 R316H THB1_HUMAN VAR_004635 A317T THB1_HUMAN VAR_004636 R320C THB1_HUMAN VAR_004637 R320H THB1_HUMAN VAR_004638 G332R THB1_HUMAN VAR_004640 R338W THB1_HUMAN VAR_004641 Q340H THB1_HUMAN VAR_004642 K342I THB1_HUMAN VAR_004643 G345V THB1_HUMAN VAR_004644 G345S THB1_HUMAN VAR_004645 G345R THB1_HUMAN VAR_004646 G347E THB1_HUMAN VAR_004647 V348E THB1_HUMAN VAR_004648 T426I THB1_HUMAN VAR_004649 R438H THB1_HUMAN VAR_004650 M442V THB1_HUMAN VAR_004651 K443E THB1_HUMAN VAR_004652 C446R THB1_HUMAN VAR_004653 P453H THB1_HUMAN VAR_004654 P453S THB1_HUMAN VAR_004655 P453T THBG_HUMAN VAR_007102 S43T THBG_HUMAN VAR_007103 I116N THBG_HUMAN VAR_007104 A133P THBG_HUMAN VAR_007107 L247P THBG_HUMAN VAR_007109 H351Y THBG_HUMAN VAR_007110 P383L THIL_HUMAN VAR_007498 N93S THIL_HUMAN VAR_007499 G152A THIL_HUMAN VAR_007500 N158D THIL_HUMAN VAR_007501 G183R THIL_HUMAN VAR_007502 T297M THIL_HUMAN VAR_007503 A301P THIL_HUMAN VAR_007504 I312T THIL_HUMAN VAR_007505 A333P THIL_HUMAN VAR_007506 G379V THIL_HUMAN VAR_007507 A380T THYG_HUMAN VAR_010219 C1996S TIE2_HUMAN VAR_006352 R849W TIE2_HUMAN VAR_008716 Y897S TIM8A_HUMAN VAR_010237 C66W TIMP3_HUMAN VAR_007508 S179C TIMP3_HUMAN VAR_007509 Y191C TIMP3_HUMAN VAR_007510 S204C TIMP3_HUMAN VAR_008290 G189C TIMP3_HUMAN VAR_010901 G190C TITF1_HUMAN VAR_015188 W208L TITF1_HUMAN VAR_015189 R213S TM16E_HUMAN VAR_023524 C356G TM16E_HUMAN VAR_023525 C356R TMC1_HUMAN VAR_014125 D572N TMC1_HUMAN VAR_014126 M654V TMIE_HUMAN VAR_021524 R81C TMIE_HUMAN VAR_021525 R84W TMIE_HUMAN VAR_021526 R92W TNFL5_HUMAN VAR_007513 M36R TNFL5_HUMAN VAR_007514 A123E TNFL5_HUMAN VAR_007515 V126A TNFL5_HUMAN VAR_007517 W140C TNFL5_HUMAN VAR_007518 W140G TNFL5_HUMAN VAR_007519 W140R TNFL5_HUMAN VAR_007520 G144E TNFL5_HUMAN VAR_007521 L155P TNFL5_HUMAN VAR_007522 T211N TNFL5_HUMAN VAR_007524 G227V TNFL5_HUMAN VAR_007526 L231S TNFL5_HUMAN VAR_007527 A235P TNFL5_HUMAN VAR_007528 T254M TNFL5_HUMAN VAR_017922 T147N TNFL5_HUMAN VAR_017923 Y170C TNFL5_HUMAN VAR_017924 L258S TNFL5_HUMAN VAR_017925 G38R TNFL5_HUMAN VAR_017926 H125R TNFL5_HUMAN VAR_017927 Q174R TNFL5_HUMAN VAR_017928 G257S TNFL5_HUMAN VAR_017929 G116R TNFL5_HUMAN VAR_017930 G116S TNFL5_HUMAN VAR_017931 V126D TNFL5_HUMAN VAR_017932 K143T TNFL5_HUMAN VAR_017933 A173D TNFL5_HUMAN VAR_017934 T176I TNFL5_HUMAN VAR_017935 L195P TNFL5_HUMAN VAR_017936 A208D TNFL5_HUMAN VAR_017937 H224Y TNFL5_HUMAN VAR_017938 G226A TNFL5_HUMAN VAR_017939 V237E TNFL5_HUMAN VAR_017940 G257D TNNI2_HUMAN VAR_016087 R173Q TNNI3_HUMAN VAR_007603 R144G TNNI3_HUMAN VAR_007604 K205Q TNNI3_HUMAN VAR_016078 P81S TNNI3_HUMAN VAR_016079 L143Q TNNI3_HUMAN VAR_016080 R144W TNNI3_HUMAN VAR_016081 A170T TNNI3_HUMAN VAR_016082 K177E TNNI3_HUMAN VAR_016083 D189H TNNI3_HUMAN VAR_016084 R191H TNNI3_HUMAN VAR_016085 D195N TNNI3_HUMAN VAR_019872 R140Q TNNI3_HUMAN VAR_019873 A156V TNNI3_HUMAN VAR_019874 R161P TNNI3_HUMAN VAR_019876 R185Q TNNT2_HUMAN VAR_007605 I88N TNNT2_HUMAN VAR_007606 R101Q TNNT2_HUMAN VAR_007607 F119I TNNT2_HUMAN VAR_007609 E172K TNNT2_HUMAN VAR_007610 E253D TNNT2_HUMAN VAR_007612 R287C TNNT2_HUMAN VAR_007613 R287P TNNT2_HUMAN VAR_009194 R103L TNNT2_HUMAN VAR_016195 R101L TNNT2_HUMAN VAR_016196 R101W TNNT2_HUMAN VAR_016197 A113V TNNT2_HUMAN VAR_016198 R150W TNNT2_HUMAN VAR_016199 S188F TNNT2_HUMAN VAR_019877 F79L TNNT2_HUMAN VAR_019878 F119V TNNT2_HUMAN VAR_019879 N280I TNNT2_HUMAN VAR_019880 R295C TNR1A_HUMAN VAR_013410 C59R TNR1A_HUMAN VAR_013411 C62Y TNR1A_HUMAN VAR_013412 T79M TNR1A_HUMAN VAR_013413 C81F TNR1A_HUMAN VAR_013414 C117R TNR1A_HUMAN VAR_013415 C117Y TNR1A_HUMAN VAR_019302 C59S TNR1A_HUMAN VAR_019303 C62G TNR1A_HUMAN VAR_019304 C99S TNR1A_HUMAN VAR_019305 R121P TNR1A_HUMAN VAR_019329 H51Q TNR1A_HUMAN VAR_019331 S115G TNR5_HUMAN VAR_013628 C83R TNR6_HUMAN VAR_013417 T28A TNR6_HUMAN VAR_013418 C82R TNR6_HUMAN VAR_013419 R121W TNR6_HUMAN VAR_013423 Y232C TNR6_HUMAN VAR_013424 T241K TNR6_HUMAN VAR_013425 T241P TNR6_HUMAN VAR_013426 R250P TNR6_HUMAN VAR_013427 R250Q TNR6_HUMAN VAR_013428 A257D TNR6_HUMAN VAR_013429 D260G TNR6_HUMAN VAR_013430 D260Y TNR6_HUMAN VAR_013431 D260V TNR6_HUMAN VAR_013433 T270I TNR6_HUMAN VAR_013434 E272G TNR6_HUMAN VAR_013438 I310S TPIS_HUMAN VAR_007534 C41Y TPIS_HUMAN VAR_007535 G72A TPIS_HUMAN VAR_007536 E104D TPIS_HUMAN VAR_007538 V154M TPIS_HUMAN VAR_007539 I170V TPIS_HUMAN VAR_007540 V231M TPIS_HUMAN VAR_007541 F240L TPM1_HUMAN VAR_007601 D175N TPM1_HUMAN VAR_007602 E180G TPM1_HUMAN VAR_013135 A63V TPM2_HUMAN VAR_013468 E117A TPM2_HUMAN VAR_013469 Q147P TPM2_HUMAN VAR_016086 R91G TPM3_HUMAN VAR_013460 M8R TPP1_HUMAN VAR_005643 C365R TPP1_HUMAN VAR_005644 C365Y TPP1_HUMAN VAR_005645 R447H TPP1_HUMAN VAR_009603 G77R TPP1_HUMAN VAR_009605 R206C TPP1_HUMAN VAR_009606 I287N TPP1_HUMAN VAR_009607 E343K TPP1_HUMAN VAR_009608 V385D TPP1_HUMAN VAR_009609 G389E TPP1_HUMAN VAR_009610 Q422H TPP1_HUMAN VAR_009611 A454E TPP1_HUMAN VAR_009612 S475L TPP1_HUMAN VAR_016790 R127Q TPP1_HUMAN VAR_016791 S153P TPP1_HUMAN VAR_016792 R206H TPP1_HUMAN VAR_016793 V277M TPP1_HUMAN VAR_016794 Q278P TPP1_HUMAN VAR_016795 G284V TPP1_HUMAN VAR_016796 N286S TPP1_HUMAN VAR_016797 T353P TPP1_HUMAN VAR_016798 K428N TPP1_HUMAN VAR_016799 G473R TPP1_HUMAN VAR_016800 F481C TPPC2_HUMAN VAR_012358 D47Y TPPC2_HUMAN VAR_012359 S73L TPPC2_HUMAN VAR_012360 V130D TPPC2_HUMAN VAR_012361 F83S TRBM_HUMAN VAR_011371 D486Y TREM2_HUMAN VAR_019334 D134G TREM2_HUMAN VAR_019335 K186N TRFE_HUMAN VAR_012997 A477P TRI18_HUMAN VAR_013758 C266R TRI18_HUMAN VAR_013761 I536T TRI18_HUMAN VAR_013762 L626P TRI32_HUMAN VAR_018725 D487N TRPM6_HUMAN VAR_019963 S141L TRPS1_HUMAN VAR_012807 V894D TRPS1_HUMAN VAR_012808 T901P TRPS1_HUMAN VAR_012809 R908P TRPS1_HUMAN VAR_012810 R908Q TRPS1_HUMAN VAR_012811 A919T TRY1_HUMAN VAR_006720 N29I TRY1_HUMAN VAR_006721 R122H TRY1_HUMAN VAR_011652 D22G TRY1_HUMAN VAR_011653 K23R TRY1_HUMAN VAR_011654 L104P TRY1_HUMAN VAR_011655 R116C TRY1_HUMAN VAR_011656 C139F TRY1_HUMAN VAR_011693 A16V TRY1_HUMAN VAR_012712 N29T TRY1_HUMAN VAR_012713 R122C TSC1_HUMAN VAR_009397 E51D TSC1_HUMAN VAR_009399 L191H TSC1_HUMAN VAR_009401 M224R TSC1_HUMAN VAR_009403 T417I TSC1_HUMAN VAR_009406 K587R TSC1_HUMAN VAR_009407 Q654E TSC1_HUMAN VAR_009408 A726E TSC1_HUMAN VAR_009409 H732Y TSC1_HUMAN VAR_009412 T899S TSC2_HUMAN VAR_005646 L292P TSC2_HUMAN VAR_005647 Y407D TSC2_HUMAN VAR_005648 M449I TSC2_HUMAN VAR_005651 R611W TSC2_HUMAN VAR_005652 L826M TSC2_HUMAN VAR_005653 R905Q TSC2_HUMAN VAR_005654 R905W TSC2_HUMAN VAR_005655 D1084E TSC2_HUMAN VAR_005656 R1200W TSC2_HUMAN VAR_005657 P1227L TSC2_HUMAN VAR_005658 R1240W TSC2_HUMAN VAR_005659 D1295V TSC2_HUMAN VAR_005661 Y1549C TSC2_HUMAN VAR_005663 N1643I TSC2_HUMAN VAR_005664 Y1650C TSC2_HUMAN VAR_005665 D1690Y TSC2_HUMAN VAR_005666 A1712E TSC2_HUMAN VAR_005667 L1750F TSC2_HUMAN VAR_008020 C227Y TSC2_HUMAN VAR_008021 N331K TSC2_HUMAN VAR_008022 N486I TSC2_HUMAN VAR_008026 P816L TSC2_HUMAN VAR_008027 V1144M TSC2_HUMAN VAR_008028 P1315S TSC2_HUMAN VAR_008029 R1329H TSC2_HUMAN VAR_008030 P1709L TSC2_HUMAN VAR_008031 R1743Q TSC2_HUMAN VAR_008032 H1773P TSC2_HUMAN VAR_008033 E1783Q TSC2_HUMAN VAR_009415 H137R TSC2_HUMAN VAR_009417 K258N TSC2_HUMAN VAR_009418 R261P TSC2_HUMAN VAR_009422 G294E TSC2_HUMAN VAR_009425 F320L TSC2_HUMAN VAR_009426 L361P TSC2_HUMAN VAR_009432 N525S TSC2_HUMAN VAR_009435 K599M TSC2_HUMAN VAR_009436 A614D TSC2_HUMAN VAR_009437 D647N TSC2_HUMAN VAR_009439 C696Y TSC2_HUMAN VAR_009440 L717R TSC2_HUMAN VAR_009441 V769E TSC2_HUMAN VAR_009442 M895V TSC2_HUMAN VAR_009443 V963M TSC2_HUMAN VAR_009445 P1497R TSC2_HUMAN VAR_009446 S1498N TSC2_HUMAN VAR_009447 L1594M TSC2_HUMAN VAR_009448 H1620Y TSC2_HUMAN VAR_009449 N1643K TSC2_HUMAN VAR_009450 N1651S TSC2_HUMAN VAR_009451 P1675L TSC2_HUMAN VAR_009452 N1681K TSC2_HUMAN VAR_009453 S1704T TSC2_HUMAN VAR_009454 R1743P TSC2_HUMAN VAR_009455 L1744P TSC2_HUMAN VAR_018603 S1653F TSC2_HUMAN VAR_022919 L1027P TSHR_HUMAN VAR_003566 K183R TSHR_HUMAN VAR_003569 S281I TSHR_HUMAN VAR_003570 S281N TSHR_HUMAN VAR_003571 S505N TSHR_HUMAN VAR_003573 D619G TSHR_HUMAN VAR_003574 A623I TSHR_HUMAN VAR_003575 L629F TSHR_HUMAN VAR_011519 C41S TSHR_HUMAN VAR_011520 R109Q TSHR_HUMAN VAR_011521 P162A TSHR_HUMAN VAR_011522 I167N TSHR_HUMAN VAR_011523 S281T TSHR_HUMAN VAR_011524 R310C TSHR_HUMAN VAR_011525 C390W TSHR_HUMAN VAR_011526 D410N TSHR_HUMAN VAR_011527 G431S TSHR_HUMAN VAR_011528 R450H TSHR_HUMAN VAR_011529 M453T TSHR_HUMAN VAR_011530 M463V TSHR_HUMAN VAR_011531 I486F TSHR_HUMAN VAR_011532 I486M TSHR_HUMAN VAR_011533 G498S TSHR_HUMAN VAR_011534 S505R TSHR_HUMAN VAR_011535 V509A TSHR_HUMAN VAR_011536 L512R TSHR_HUMAN VAR_011537 F525L TSHR_HUMAN VAR_011538 A553T TSHR_HUMAN VAR_011539 I568T TSHR_HUMAN VAR_011540 V597L TSHR_HUMAN VAR_011542 A623V TSHR_HUMAN VAR_011543 I630L TSHR_HUMAN VAR_011544 F631C TSHR_HUMAN VAR_011545 F631L TSHR_HUMAN VAR_011546 T632A TSHR_HUMAN VAR_011547 T632I TSHR_HUMAN VAR_011548 D633A TSHR_HUMAN VAR_011549 D633E TSHR_HUMAN VAR_011550 D633H TSHR_HUMAN VAR_011551 D633Y TSHR_HUMAN VAR_011552 P639S TSHR_HUMAN VAR_011553 A647V TSHR_HUMAN VAR_011554 N650Y TSHR_HUMAN VAR_011556 N670S TSHR_HUMAN VAR_011557 C672Y TSHR_HUMAN VAR_017295 L467P TSHR_HUMAN VAR_017296 T477I TSHR_HUMAN VAR_017297 C600R TSHR_HUMAN VAR_021495 L252P TSHR_HUMAN VAR_021499 V597F TSN7_HUMAN VAR_009259 P172H TTDN1_HUMAN VAR_022940 M144V TTHY_HUMAN VAR_007547 C30R TTHY_HUMAN VAR_007548 D38E TTHY_HUMAN VAR_007549 D38G TTHY_HUMAN VAR_007550 V40I TTHY_HUMAN VAR_007551 P44S TTHY_HUMAN VAR_007552 V50A TTHY_HUMAN VAR_007553 V50L TTHY_HUMAN VAR_007554 V50M TTHY_HUMAN VAR_007555 F53I TTHY_HUMAN VAR_007556 F53L TTHY_HUMAN VAR_007557 A56P TTHY_HUMAN VAR_007558 E62G TTHY_HUMAN VAR_007559 A65D TTHY_HUMAN VAR_007560 A65T TTHY_HUMAN VAR_007561 G67A TTHY_HUMAN VAR_007562 G67R TTHY_HUMAN VAR_007563 G67V TTHY_HUMAN VAR_007564 T69A TTHY_HUMAN VAR_007565 S70I TTHY_HUMAN VAR_007566 S70R TTHY_HUMAN VAR_007567 S72P TTHY_HUMAN VAR_007568 E74G TTHY_HUMAN VAR_007569 L75P TTHY_HUMAN VAR_007570 L78H TTHY_HUMAN VAR_007571 L78R TTHY_HUMAN VAR_007572 T79K TTHY_HUMAN VAR_007573 T80A TTHY_HUMAN VAR_007574 E81K TTHY_HUMAN VAR_007575 F84L TTHY_HUMAN VAR_007577 Y89H TTHY_HUMAN VAR_007578 K90N TTHY_HUMAN VAR_007579 V91A TTHY_HUMAN VAR_007580 I93V TTHY_HUMAN VAR_007582 S97Y TTHY_HUMAN VAR_007584 I104S TTHY_HUMAN VAR_007585 E109Q TTHY_HUMAN VAR_007587 A111S TTHY_HUMAN VAR_007588 A117G TTHY_HUMAN VAR_007592 I127V TTHY_HUMAN VAR_007593 A129T TTHY_HUMAN VAR_007594 L131M TTHY_HUMAN VAR_007595 Y134C TTHY_HUMAN VAR_007596 Y136S TTHY_HUMAN VAR_007598 Y134H TTHY_HUMAN VAR_010658 V48M TTHY_HUMAN VAR_010659 E109K TTPA_HUMAN VAR_005668 H101Q TTPA_HUMAN VAR_007858 R192H TTPA_HUMAN VAR_022388 R59W TTPA_HUMAN VAR_022389 A120T TTPA_HUMAN VAR_022390 E141K TTPA_HUMAN VAR_022391 R221W TTPA_HUMAN VAR_022392 G246R TULP1_HUMAN VAR_007941 R420P TULP1_HUMAN VAR_007942 I459K TULP1_HUMAN VAR_007943 F491L TULP1_HUMAN VAR_008275 A245V TULP1_HUMAN VAR_008277 N261T TULP1_HUMAN VAR_008278 R378H TULP1_HUMAN VAR_008279 T454M TULP1_HUMAN VAR_008280 K489R TULP1_HUMAN VAR_008281 A496T TWST1_HUMAN VAR_004495 Q119P TWST1_HUMAN VAR_004496 L131P TWST1_HUMAN VAR_015219 I156V TYDP1_HUMAN VAR_017144 H493R TYPH_HUMAN VAR_007643 G145R TYPH_HUMAN VAR_007644 G153S TYPH_HUMAN VAR_007645 K222R TYPH_HUMAN VAR_007646 E289A TYPH_HUMAN VAR_016777 R44Q TYRO_HUMAN VAR_007649 H19Q TYRO_HUMAN VAR_007650 P21S TYRO_HUMAN VAR_007651 D42G TYRO_HUMAN VAR_007652 G47D TYRO_HUMAN VAR_007654 C55Y TYRO_HUMAN VAR_007655 R77Q TYRO_HUMAN VAR_007656 R77W TYRO_HUMAN VAR_007657 W80R TYRO_HUMAN VAR_007658 P81L TYRO_HUMAN VAR_007659 C89R TYRO_HUMAN VAR_007660 G97R TYRO_HUMAN VAR_007661 F176I TYRO_HUMAN VAR_007663 A206T TYRO_HUMAN VAR_007664 L216M TYRO_HUMAN VAR_007665 R217G TYRO_HUMAN VAR_007666 R217W TYRO_HUMAN VAR_007667 R217Q TYRO_HUMAN VAR_007668 G253R TYRO_HUMAN VAR_007669 V275F TYRO_HUMAN VAR_007670 C289R TYRO_HUMAN VAR_007671 R299H TYRO_HUMAN VAR_007672 R299S TYRO_HUMAN VAR_007675 T325A TYRO_HUMAN VAR_007676 S339G TYRO_HUMAN VAR_007678 A355P TYRO_HUMAN VAR_007679 N371T TYRO_HUMAN VAR_007680 T373K TYRO_HUMAN VAR_007681 S380P TYRO_HUMAN VAR_007682 N382K TYRO_HUMAN VAR_007683 D383N TYRO_HUMAN VAR_007684 H390D TYRO_HUMAN VAR_007685 S395N TYRO_HUMAN VAR_007687 R403S TYRO_HUMAN VAR_007689 P406L TYRO_HUMAN VAR_007690 G419R TYRO_HUMAN VAR_007691 R422Q TYRO_HUMAN VAR_007692 G446S TYRO_HUMAN VAR_007693 D448N TYRO_HUMAN VAR_007925 P152S TYRO_HUMAN VAR_007927 L288S TYRO_HUMAN VAR_007929 E328Q TYRO_HUMAN VAR_007930 G346E TYRO_HUMAN VAR_007931 A355E TYRO_HUMAN VAR_007932 S361R TYRO_HUMAN VAR_007934 M370T TYRO_HUMAN VAR_007935 N371Y TYRO_HUMAN VAR_007936 V393F TYRO_HUMAN VAR_007937 R402G TYRO_HUMAN VAR_007938 P431L TYRO_HUMAN VAR_009237 C289G TYRO_HUMAN VAR_009238 W400L TYRO_HUMAN VAR_021683 C36Y TYRO_HUMAN VAR_021684 S44G TYRO_HUMAN VAR_021685 S44R TYRO_HUMAN VAR_021686 G47V TYRO_HUMAN VAR_021687 Q68H TYRO_HUMAN VAR_021688 S79L TYRO_HUMAN VAR_021689 G109R TYRO_HUMAN VAR_021690 T155S TYRO_HUMAN VAR_021691 V177F TYRO_HUMAN VAR_021692 M179L TYRO_HUMAN VAR_021693 H180N TYRO_HUMAN VAR_021694 D199N TYRO_HUMAN VAR_021695 A201S TYRO_HUMAN VAR_021696 P205T TYRO_HUMAN VAR_021697 R217S TYRO_HUMAN VAR_021699 W236L TYRO_HUMAN VAR_021700 W236S TYRO_HUMAN VAR_021701 R239W TYRO_HUMAN VAR_021702 D240V TYRO_HUMAN VAR_021703 K243T TYRO_HUMAN VAR_021704 H256Y TYRO_HUMAN VAR_021705 W272C TYRO_HUMAN VAR_021706 E294G TYRO_HUMAN VAR_021707 V318E TYRO_HUMAN VAR_021708 S329P TYRO_HUMAN VAR_021709 M332T TYRO_HUMAN VAR_021710 E345G TYRO_HUMAN VAR_021711 Q378K TYRO_HUMAN VAR_021712 S395R TYRO_HUMAN VAR_021713 E398A TYRO_HUMAN VAR_021714 E398V TYRO_HUMAN VAR_021715 R402L TYRO_HUMAN VAR_021716 H404N TYRO_HUMAN VAR_021717 R405L TYRO_HUMAN VAR_021718 Q408H TYRO_HUMAN VAR_021719 E409D TYRO_HUMAN VAR_021720 A416S TYRO_HUMAN VAR_021721 P417H TYRO_HUMAN VAR_021722 S424F TYRO_HUMAN VAR_021723 M426K TYRO_HUMAN VAR_021724 V427G TYRO_HUMAN VAR_021725 R434I TYRO_HUMAN VAR_021726 N435D TYRO_HUMAN VAR_021727 F439V TYRO_HUMAN VAR_021728 D444G UD11_HUMAN VAR_007696 L175E UD11_HUMAN VAR_007697 C177R UD11_HUMAN VAR_007698 R209W UD11_HUMAN VAR_007699 G276R UD11_HUMAN VAR_007700 A292V UD11_HUMAN VAR_007701 G308E UD11_HUMAN VAR_007702 Q331R UD11_HUMAN VAR_007703 Q357R UD11_HUMAN VAR_007704 A368T UD11_HUMAN VAR_007705 S375F UD11_HUMAN VAR_007706 S381R UD11_HUMAN VAR_007707 A401P UD11_HUMAN VAR_007708 K428E UD11_HUMAN VAR_007709 Y486D UD11_HUMAN VAR_009505 P229Q UD11_HUMAN VAR_012283 R367G UD11_HUMAN VAR_019410 L15R UD11_HUMAN VAR_019411 L175Q UD11_HUMAN VAR_019412 N400D UNG_HUMAN VAR_017094 F251S UROM_HUMAN VAR_017666 G103C UROM_HUMAN VAR_017667 C148Y UROM_HUMAN VAR_017668 C217R USH3A_HUMAN VAR_012241 M44K V2R_HUMAN VAR_003517 L44P V2R_HUMAN VAR_003520 H80R V2R_HUMAN VAR_003521 V88M V2R_HUMAN VAR_003522 R106C V2R_HUMAN VAR_003523 C112R V2R_HUMAN VAR_003524 R113W V2R_HUMAN VAR_003525 S126F V2R_HUMAN VAR_003526 Y128S V2R_HUMAN VAR_003527 A132D V2R_HUMAN VAR_003528 R137H V2R_HUMAN VAR_003529 R143P V2R_HUMAN VAR_003531 W164S V2R_HUMAN VAR_003532 S167L V2R_HUMAN VAR_003533 S167T V2R_HUMAN VAR_003534 R181C V2R_HUMAN VAR_003535 G185C V2R_HUMAN VAR_003536 R202C V2R_HUMAN VAR_003537 R203C V2R_HUMAN VAR_003538 Y205C V2R_HUMAN VAR_003543 P286L V2R_HUMAN VAR_003544 P286R V2R_HUMAN VAR_003545 L292P V2R_HUMAN VAR_003546 L309P V2R_HUMAN VAR_003547 N317K V2R_HUMAN VAR_003548 W323S V2R_HUMAN VAR_015297 L43P V2R_HUMAN VAR_015298 I46K V2R_HUMAN VAR_015299 L53R V2R_HUMAN VAR_015300 N55D V2R_HUMAN VAR_015301 N55H V2R_HUMAN VAR_015302 L59P V2R_HUMAN VAR_015304 L62P V2R_HUMAN VAR_015305 L81F V2R_HUMAN VAR_015306 L83P V2R_HUMAN VAR_015307 L83Q V2R_HUMAN VAR_015308 A84D V2R_HUMAN VAR_015309 D85N V2R_HUMAN VAR_015310 Q92R V2R_HUMAN VAR_015311 L94Q V2R_HUMAN VAR_015312 P95L V2R_HUMAN VAR_015313 W99R V2R_HUMAN VAR_015314 R104C V2R_HUMAN VAR_015315 F105V V2R_HUMAN VAR_015316 G107E V2R_HUMAN VAR_015317 C112Y V2R_HUMAN VAR_015318 G122R V2R_HUMAN VAR_015319 M123K V2R_HUMAN VAR_015320 S127F V2R_HUMAN VAR_015321 I130F V2R_HUMAN VAR_015322 L135P V2R_HUMAN VAR_015324 A163P V2R_HUMAN VAR_015325 P173S V2R_HUMAN VAR_015326 Q174L V2R_HUMAN VAR_015327 D191G V2R_HUMAN VAR_015328 G201D V2R_HUMAN VAR_015329 T204N V2R_HUMAN VAR_015330 V206D V2R_HUMAN VAR_015331 T207N V2R_HUMAN VAR_015332 I209F V2R_HUMAN VAR_015333 F214S V2R_HUMAN VAR_015335 P217T V2R_HUMAN VAR_015336 L219P V2R_HUMAN VAR_015337 L219R V2R_HUMAN VAR_015339 M272K V2R_HUMAN VAR_015340 V277A V2R_HUMAN VAR_015341 L282P V2R_HUMAN VAR_015342 P286S V2R_HUMAN VAR_015343 F287L V2R_HUMAN VAR_015344 L289P V2R_HUMAN VAR_015345 A294P V2R_HUMAN VAR_015346 L309R V2R_HUMAN VAR_015347 S315R V2R_HUMAN VAR_015349 C319R V2R_HUMAN VAR_015350 N321D V2R_HUMAN VAR_015351 N321K V2R_HUMAN VAR_015352 N321Y V2R_HUMAN VAR_015353 P322H V2R_HUMAN VAR_015354 P322S V2R_HUMAN VAR_015355 W323R VATB1_HUMAN VAR_007866 L81P VATB1_HUMAN VAR_007867 R124W VATB1_HUMAN VAR_007868 M174R VATB1_HUMAN VAR_007869 T275P VATB1_HUMAN VAR_007870 G316E VATB1_HUMAN VAR_007871 P346R VATB1_HUMAN VAR_007872 G364S VATB1_HUMAN VAR_021012 G123V VATB1_HUMAN VAR_021013 R157C VATB1_HUMAN VAR_021015 R465H VGFR3_HUMAN VAR_018409 G857R VGFR3_HUMAN VAR_018411 P954S VGFR3_HUMAN VAR_018412 H1035R VGFR3_HUMAN VAR_018413 R1041P VGFR3_HUMAN VAR_018414 L1044P VGFR3_HUMAN VAR_018415 P1114L VGFR3_HUMAN VAR_018416 P1137S VHL_HUMAN VAR_005670 S38P VHL_HUMAN VAR_005671 E52K VHL_HUMAN VAR_005672 S65L VHL_HUMAN VAR_005673 S65W VHL_HUMAN VAR_005675 S68W VHL_HUMAN VAR_005676 E70L VHL_HUMAN VAR_005679 F76I VHL_HUMAN VAR_005680 F76L VHL_HUMAN VAR_005681 F76S VHL_HUMAN VAR_005682 N78H VHL_HUMAN VAR_005684 N78T VHL_HUMAN VAR_005685 R79P VHL_HUMAN VAR_005686 S80I VHL_HUMAN VAR_005687 S80R VHL_HUMAN VAR_005690 R82P VHL_HUMAN VAR_005693 P86A VHL_HUMAN VAR_005694 P86L VHL_HUMAN VAR_005695 P86R VHL_HUMAN VAR_005696 P86S VHL_HUMAN VAR_005697 W88R VHL_HUMAN VAR_005698 W88S VHL_HUMAN VAR_005703 G93C VHL_HUMAN VAR_005704 G93D VHL_HUMAN VAR_005705 G93S VHL_HUMAN VAR_005706 Q96P VHL_HUMAN VAR_005707 Y98H VHL_HUMAN VAR_005708 L101G VHL_HUMAN VAR_005709 L101R VHL_HUMAN VAR_005711 T105P VHL_HUMAN VAR_005713 R107P VHL_HUMAN VAR_005714 S111C VHL_HUMAN VAR_005715 S111N VHL_HUMAN VAR_005716 S111R VHL_HUMAN VAR_005717 Y112H VHL_HUMAN VAR_005718 G114C VHL_HUMAN VAR_005719 G114R VHL_HUMAN VAR_005720 G114S VHL_HUMAN VAR_005721 H115E VHL_HUMAN VAR_005723 H115Q VHL_HUMAN VAR_005724 L116V VHL_HUMAN VAR_005725 W117C VHL_HUMAN VAR_005727 L118R VHL_HUMAN VAR_005728 F119L VHL_HUMAN VAR_005729 F119S VHL_HUMAN VAR_005731 L128F VHL_HUMAN VAR_005733 V130L VHL_HUMAN VAR_005734 N131K VHL_HUMAN VAR_005735 N131T VHL_HUMAN VAR_005736 F136S VHL_HUMAN VAR_005737 F136C VHL_HUMAN VAR_005738 D143E VHL_HUMAN VAR_005740 A149T VHL_HUMAN VAR_005741 P154L VHL_HUMAN VAR_005742 V155G VHL_HUMAN VAR_005743 Y156C VHL_HUMAN VAR_005744 Y156D VHL_HUMAN VAR_005745 T157D VHL_HUMAN VAR_005746 T157I VHL_HUMAN VAR_005748 L158P VHL_HUMAN VAR_005749 L158V VHL_HUMAN VAR_005750 K159E VHL_HUMAN VAR_005751 R161Q VHL_HUMAN VAR_005752 R161P VHL_HUMAN VAR_005753 R161G VHL_HUMAN VAR_005754 C162F VHL_HUMAN VAR_005755 C162R VHL_HUMAN VAR_005757 C162Y VHL_HUMAN VAR_005758 Q164R VHL_HUMAN VAR_005759 V166F VHL_HUMAN VAR_005760 R167G VHL_HUMAN VAR_005763 V170D VHL_HUMAN VAR_005764 V170F VHL_HUMAN VAR_005765 V170G VHL_HUMAN VAR_005766 Y175D VHL_HUMAN VAR_005768 L178P VHL_HUMAN VAR_005769 L178Q VHL_HUMAN VAR_005770 I180V VHL_HUMAN VAR_005771 L184R VHL_HUMAN VAR_005772 L184P VHL_HUMAN VAR_005773 E186K VHL_HUMAN VAR_005775 L188P VHL_HUMAN VAR_005776 L188Q VHL_HUMAN VAR_005777 L188V VHL_HUMAN VAR_005778 L198R VHL_HUMAN VAR_005779 R200W VHL_HUMAN VAR_008097 P86H VHL_HUMAN VAR_008098 H115R VHL_HUMAN VAR_008099 F136Y VHL_HUMAN VAR_008100 Q145H VHL_HUMAN VAR_008101 V155M VHL_HUMAN VAR_008102 Q164H VHL_HUMAN VAR_008103 V166D VHL_HUMAN VAR_008104 R176W VKGC_HUMAN VAR_005781 L394R VKGC_HUMAN VAR_015218 W501S VKGC_HUMAN VAR_021826 R485P VKOR1_HUMAN VAR_021821 V29L VKOR1_HUMAN VAR_021822 V45A VKOR1_HUMAN VAR_021823 R58G VKOR1_HUMAN VAR_021824 R98W VKOR1_HUMAN VAR_021825 L128R VMD2_HUMAN VAR_000830 T6P VMD2_HUMAN VAR_000831 V9A VMD2_HUMAN VAR_000832 V9M VMD2_HUMAN VAR_000833 A10T VMD2_HUMAN VAR_000834 L21V VMD2_HUMAN VAR_000835 W24C VMD2_HUMAN VAR_000836 R25Q VMD2_HUMAN VAR_000837 R25W VMD2_HUMAN VAR_000838 S27R VMD2_HUMAN VAR_000839 Q58L VMD2_HUMAN VAR_000841 Y85H VMD2_HUMAN VAR_000842 R92S VMD2_HUMAN VAR_000843 W93C VMD2_HUMAN VAR_000844 N99K VMD2_HUMAN VAR_000845 L100R VMD2_HUMAN VAR_000846 D104E VMD2_HUMAN VAR_000847 R141H VMD2_HUMAN VAR_000848 S209N VMD2_HUMAN VAR_000849 R218C VMD2_HUMAN VAR_000850 R218Q VMD2_HUMAN VAR_000851 R218S VMD2_HUMAN VAR_000852 L224M VMD2_HUMAN VAR_000853 Y227C VMD2_HUMAN VAR_000854 Y227N VMD2_HUMAN VAR_000855 S231R VMD2_HUMAN VAR_000856 V235M VMD2_HUMAN VAR_000857 T237R VMD2_HUMAN VAR_000858 A243V VMD2_HUMAN VAR_000860 P297A VMD2_HUMAN VAR_000861 G299E VMD2_HUMAN VAR_000862 E300K VMD2_HUMAN VAR_000863 D301E VMD2_HUMAN VAR_000864 D301N VMD2_HUMAN VAR_000865 F305S VMD2_HUMAN VAR_000866 I310T VMD2_HUMAN VAR_000867 V311G VMD2_HUMAN VAR_000868 D312N VMD2_HUMAN VAR_010468 A10V VMD2_HUMAN VAR_010469 R13H VMD2_HUMAN VAR_010470 S16F VMD2_HUMAN VAR_010471 F17C VMD2_HUMAN VAR_010472 I73N VMD2_HUMAN VAR_010473 L82V VMD2_HUMAN VAR_010474 R92C VMD2_HUMAN VAR_010475 R92H VMD2_HUMAN VAR_010476 Q96H VMD2_HUMAN VAR_010478 G135S VMD2_HUMAN VAR_010479 A146K VMD2_HUMAN VAR_010481 R218H VMD2_HUMAN VAR_010482 V235L VMD2_HUMAN VAR_010483 Q293K VMD2_HUMAN VAR_010484 N296S VMD2_HUMAN VAR_010487 T307I VMD2_HUMAN VAR_017366 T6R VMD2_HUMAN VAR_017367 N11I VMD2_HUMAN VAR_017368 G26R VMD2_HUMAN VAR_017369 Y29H VMD2_HUMAN VAR_017370 K30R VMD2_HUMAN VAR_017371 L41P VMD2_HUMAN VAR_017372 R47H VMD2_HUMAN VAR_017373 F80L VMD2_HUMAN VAR_017374 V89A VMD2_HUMAN VAR_017375 T91I VMD2_HUMAN VAR_017376 P101T VMD2_HUMAN VAR_017377 W102R VMD2_HUMAN VAR_017378 D104H VMD2_HUMAN VAR_017379 N133K VMD2_HUMAN VAR_017380 L140R VMD2_HUMAN VAR_017381 A195V VP13A_HUMAN VAR_012803 S1452P VP13B_HUMAN VAR_017759 L2193R VP33B_HUMAN VAR_018983 L30P VPP3_HUMAN VAR_019569 G405R VPP3_HUMAN VAR_019570 R444L VPP3_HUMAN VAR_020988 A141P VPP3_HUMAN VAR_020990 D517N VPP3_HUMAN VAR_020991 P775R VPP4_HUMAN VAR_017255 P524L VPP4_HUMAN VAR_017257 G820R VPP4_HUMAN VAR_020993 G175D VPP4_HUMAN VAR_020995 R449H VPP4_HUMAN VAR_020996 R807Q VSX1_HUMAN VAR_014243 D144E VSX1_HUMAN VAR_014244 L159M VSX1_HUMAN VAR_014245 G160D VSX1_HUMAN VAR_014246 R166W VSX1_HUMAN VAR_014247 H244R VWF_HUMAN VAR_005782 W377C VWF_HUMAN VAR_005783 N528S VWF_HUMAN VAR_005784 G550R VWF_HUMAN VAR_005791 P1266L VWF_HUMAN VAR_005792 H1268D VWF_HUMAN VAR_005793 C1272R VWF_HUMAN VAR_005794 R1306W VWF_HUMAN VAR_005795 R1308C VWF_HUMAN VAR_005796 W1313C VWF_HUMAN VAR_005797 V1314L VWF_HUMAN VAR_005798 V1316M VWF_HUMAN VAR_005799 V1318L VWF_HUMAN VAR_005800 G1324S VWF_HUMAN VAR_005801 R1341Q VWF_HUMAN VAR_005802 R1374C VWF_HUMAN VAR_005803 R1374H VWF_HUMAN VAR_005806 L1460V VWF_HUMAN VAR_005807 A1461V VWF_HUMAN VAR_005808 F1514C VWF_HUMAN VAR_005809 L1540P VWF_HUMAN VAR_005811 R1597G VWF_HUMAN VAR_005812 R1597Q VWF_HUMAN VAR_005813 R1597W VWF_HUMAN VAR_005814 V1607D VWF_HUMAN VAR_005815 G1609R VWF_HUMAN VAR_005816 S1613P VWF_HUMAN VAR_005817 I1628T VWF_HUMAN VAR_005818 E1638K VWF_HUMAN VAR_005819 P1648S VWF_HUMAN VAR_005820 V1665E VWF_HUMAN VAR_005821 C2739Y VWF_HUMAN VAR_005822 C2773R VWF_HUMAN VAR_009141 C788Y VWF_HUMAN VAR_009142 P2063S VWF_HUMAN VAR_009143 C2362F VWF_HUMAN VAR_009144 N2546Y VWF_HUMAN VAR_010242 R273W WASP_HUMAN VAR_005823 L26F WASP_HUMAN VAR_005825 E30K WASP_HUMAN VAR_005826 T47I WASP_HUMAN VAR_005827 A55V WASP_HUMAN VAR_005828 V74M WASP_HUMAN VAR_005829 S81P WASP_HUMAN VAR_005830 R85H WASP_HUMAN VAR_005831 R85L WASP_HUMAN VAR_005832 R85C WASP_HUMAN VAR_005833 W96C WASP_HUMAN VAR_005834 E130K WASP_HUMAN VAR_005835 E132K WASP_HUMAN VAR_005836 G186C WASP_HUMAN VAR_005837 A235E WASP_HUMAN VAR_005838 K475E WASP_HUMAN VAR_005839 R476K WASP_HUMAN VAR_008105 C42W WASP_HUMAN VAR_008106 T44M WASP_HUMAN VAR_008107 C72R WASP_HUMAN VAR_008108 Y82C WASP_HUMAN VAR_008109 F83L WASP_HUMAN VAR_008110 G88D WASP_HUMAN VAR_012710 Q51H WASP_HUMAN VAR_012711 G69W WASP_HUMAN VAR_022806 P57L WASP_HUMAN VAR_022807 A133T WFS1_HUMAN VAR_005842 P504L WFS1_HUMAN VAR_005844 G695V WFS1_HUMAN VAR_005845 P724L WFS1_HUMAN VAR_009109 E169K WFS1_HUMAN VAR_009110 P292S WFS1_HUMAN VAR_009111 I296S WFS1_HUMAN VAR_009114 G437R WFS1_HUMAN VAR_009116 C690R WFS1_HUMAN VAR_009117 W700C WFS1_HUMAN VAR_009118 G736S WFS1_HUMAN VAR_009119 P885L WFS1_HUMAN VAR_011305 A58V WFS1_HUMAN VAR_011306 A126T WFS1_HUMAN VAR_011308 S443I WFS1_HUMAN VAR_011313 G780R WFS1_HUMAN VAR_011314 R818C WFS1_HUMAN VAR_014034 A133T WFS1_HUMAN VAR_014038 Y669C WISP3_HUMAN VAR_016225 C78R WNK4_HUMAN VAR_017588 E562K WNK4_HUMAN VAR_017589 D564A WNK4_HUMAN VAR_017590 Q565E WNK4_HUMAN VAR_017591 R1185C WT1_HUMAN VAR_007743 C330Y WT1_HUMAN VAR_007744 C360G WT1_HUMAN VAR_007746 R366H WT1_HUMAN VAR_007747 H373Q WT1_HUMAN VAR_007748 H377Y WT1_HUMAN VAR_007749 F383L WT1_HUMAN VAR_007750 R394W WT1_HUMAN VAR_007751 D396N WT1_HUMAN VAR_007752 D396G WT1_HUMAN VAR_015053 R312Q WT1_HUMAN VAR_015054 M342R WT1_HUMAN VAR_015055 C355Y WT1_HUMAN VAR_015056 H373Y WT1_HUMAN VAR_015057 H377R WT1_HUMAN VAR_015058 C385R WT1_HUMAN VAR_015059 C388F WT1_HUMAN VAR_015060 F392L WT1_HUMAN VAR_015061 R394Q WT1_HUMAN VAR_015062 L398P XK_HUMAN VAR_013817 R222G XK_HUMAN VAR_013818 C294R XK_HUMAN VAR_023581 E327K XLRS1_HUMAN VAR_008180 E72D XLRS1_HUMAN VAR_008181 E72K XLRS1_HUMAN VAR_008182 G74V XLRS1_HUMAN VAR_008183 W96R XLRS1_HUMAN VAR_008184 R102W XLRS1_HUMAN VAR_008185 G109R XLRS1_HUMAN VAR_008209 L12H XLRS1_HUMAN VAR_008210 L13P XLRS1_HUMAN VAR_008211 C59S XLRS1_HUMAN VAR_008212 Y65C XLRS1_HUMAN VAR_008213 G70A XLRS1_HUMAN VAR_008214 G70S XLRS1_HUMAN VAR_008215 Y89C XLRS1_HUMAN VAR_008216 A98E XLRS1_HUMAN VAR_008217 R102Q XLRS1_HUMAN VAR_008218 L103R XLRS1_HUMAN VAR_008219 F108C XLRS1_HUMAN VAR_008220 G109E XLRS1_HUMAN VAR_008221 G109W XLRS1_HUMAN VAR_008222 C110Y XLRS1_HUMAN VAR_008223 W112C XLRS1_HUMAN VAR_008224 L113F XLRS1_HUMAN VAR_008225 L127P XLRS1_HUMAN VAR_008226 G135V XLRS1_HUMAN VAR_008227 I136T XLRS1_HUMAN VAR_008228 T138A XLRS1_HUMAN VAR_008229 G140E XLRS1_HUMAN VAR_008230 G140R XLRS1_HUMAN VAR_008231 R141C XLRS1_HUMAN VAR_008232 R141G XLRS1_HUMAN VAR_008233 R141H XLRS1_HUMAN VAR_008234 C142W XLRS1_HUMAN VAR_008235 D143V XLRS1_HUMAN VAR_008236 E146D XLRS1_HUMAN VAR_008237 E146K XLRS1_HUMAN VAR_008238 Y155C XLRS1_HUMAN VAR_008240 W163C XLRS1_HUMAN VAR_008241 G178D XLRS1_HUMAN VAR_008242 R182C XLRS1_HUMAN VAR_008243 P192R XLRS1_HUMAN VAR_008244 P192S XLRS1_HUMAN VAR_008245 P193L XLRS1_HUMAN VAR_008246 P193S XLRS1_HUMAN VAR_008247 R197C XLRS1_HUMAN VAR_008248 R197H XLRS1_HUMAN VAR_008249 I199T XLRS1_HUMAN VAR_008250 I199Y XLRS1_HUMAN VAR_008251 R200C XLRS1_HUMAN VAR_008252 R200H XLRS1_HUMAN VAR_008253 P203L XLRS1_HUMAN VAR_008254 H207Q XLRS1_HUMAN VAR_008255 R209H XLRS1_HUMAN VAR_008256 R213W XLRS1_HUMAN VAR_008257 E215K XLRS1_HUMAN VAR_008258 E215Q XLRS1_HUMAN VAR_008259 L216P XLRS1_HUMAN VAR_008260 C219G XLRS1_HUMAN VAR_008261 C219R XLRS1_HUMAN VAR_008262 C223R XPA_HUMAN VAR_007727 P94L XPA_HUMAN VAR_007728 C108F XPA_HUMAN VAR_007729 R130K XPA_HUMAN VAR_007730 Q185H XPA_HUMAN VAR_007731 H244R XPC_HUMAN VAR_005846 P333H XRP2_HUMAN VAR_008498 C108G XRP2_HUMAN VAR_008499 R118H XRP2_HUMAN VAR_008500 L253R XRP2_HUMAN VAR_018069 C67Y XRP2_HUMAN VAR_018070 C86Y XRP2_HUMAN VAR_018071 P95L XRP2_HUMAN VAR_018072 R118L XRP2_HUMAN VAR_018074 E138G XRP2_HUMAN VAR_018075 L188P YLA1_HUMAN VAR_010261 G54V YLA1_HUMAN VAR_010262 L334R YLA1_HUMAN VAR_010999 G338D YLA1_HUMAN VAR_011000 S386R ZAP70_HUMAN VAR_006351 S518R ZAP70_HUMAN VAR_015538 R465H ZIC3_HUMAN VAR_007753 T323M ZNF41_HUMAN VAR_021785 P153L ZNF81_HUMAN VAR_019941 S179N ZO2_HUMAN VAR_016004 V48A