ClinVar Miner

List of variants studied for auditory system disease by Counsyl

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2543
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HGVS dbSNP
NM_000082.3(ERCC8):c.1006del (p.Thr336fs) rs1554072703
NM_000082.3(ERCC8):c.1042-1G>A rs897535441
NM_000082.3(ERCC8):c.1042-1G>C rs897535441
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000082.3(ERCC8):c.1095dup (p.Tyr366fs) rs750622098
NM_000082.3(ERCC8):c.1122+1G>A rs1482664387
NM_000082.3(ERCC8):c.1125del (p.Thr376fs) rs1554071508
NM_000082.3(ERCC8):c.1137del (p.Gln380fs) rs1343747301
NM_000082.3(ERCC8):c.1186_*1del (p.Gly396fs) rs1554071495
NM_000082.3(ERCC8):c.173+1G>A rs1476095782
NM_000082.3(ERCC8):c.276-2A>G rs1554074597
NM_000082.3(ERCC8):c.394_398del (p.Leu132fs) rs774542633
NM_000082.3(ERCC8):c.399+1G>A rs774047625
NM_000082.3(ERCC8):c.478G>A (p.Ala160Thr) rs281875222
NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) rs121434325
NM_000082.3(ERCC8):c.482-2A>G rs1554073420
NM_000082.3(ERCC8):c.551-1G>A rs1554073316
NM_000082.3(ERCC8):c.562_564del (p.Glu188del) rs1404307838
NM_000082.3(ERCC8):c.600dup (p.Ile201fs) rs1468231556
NM_000082.3(ERCC8):c.613G>C (p.Ala205Pro) rs121434326
NM_000082.3(ERCC8):c.618-1G>A rs201464610
NM_000082.3(ERCC8):c.647_651dup (p.Arg218Ter) rs1554073177
NM_000082.3(ERCC8):c.679del (p.Asp227fs) rs1554073175
NM_000082.3(ERCC8):c.719-2A>G rs1554073117
NM_000082.3(ERCC8):c.719-2A>T rs1554073117
NM_000082.3(ERCC8):c.77+2T>G rs1554076239
NM_000082.3(ERCC8):c.843+1G>T rs1305258765
NM_000082.3(ERCC8):c.928del (p.Val310fs) rs1554072713
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) rs754890794
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) rs1249878855
NM_000091.4(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.4(COL4A3):c.1459G>T (p.Gly487Cys) rs745472969
NM_000091.4(COL4A3):c.145G>A (p.Gly49Arg) rs1553749403
NM_000091.4(COL4A3):c.1687G>A (p.Gly563Arg) rs1553757060
NM_000091.4(COL4A3):c.172G>A (p.Gly58Ser) rs184730597
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del (p.603_605SPG[1]) rs1444785718
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del (p.772_774LPG[2]) rs1553759665
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.4(COL4A3):c.2621_2622delinsT (p.Gly874fs) rs1553760257
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.2765G>T (p.Gly922Val) rs920413118
NM_000091.4(COL4A3):c.2768_2778del (p.Val923fs) rs766306957
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2827G>A (p.Gly943Arg) rs1265432530
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3109C>T (p.Arg1037Ter) rs766900945
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3189_3197dup (p.1064_1066PGP[3]) rs1553762295
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.3499G>A (p.Gly1167Arg) rs267606745
NM_000091.4(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291
NM_000091.4(COL4A3):c.3662_3664del (p.Glu1221del) rs756342074
NM_000091.4(COL4A3):c.3691G>A (p.Gly1231Ser) rs761518401
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.4(COL4A3):c.4326_4328del (p.Thr1443del) rs941454321
NM_000091.4(COL4A3):c.4347_4353del (p.Arg1450fs) rs748026887
NM_000091.4(COL4A3):c.443G>T (p.Gly148Val) rs775373641
NM_000091.4(COL4A3):c.4441C>T (p.Arg1481Ter) rs121912824
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4502C>A (p.Pro1501Gln) rs1553766363
NM_000091.4(COL4A3):c.4504T>C (p.Phe1502Leu) rs1553766367
NM_000091.4(COL4A3):c.4523A>G (p.Asn1508Ser) rs200512461
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4615_4617dup (p.Arg1539dup) rs773268719
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.469G>C (p.Gly157Arg) rs764451365
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4798_4800del (p.Ser1600del) rs775551399
NM_000091.4(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.4976dup (p.Ser1660fs) rs1553766929
NM_000091.4(COL4A3):c.4977_4979dup (p.Ser1660_Arg1661insArg) rs1553766932
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.5(COL4A3):c.1153TCA[1] (p.Ser386del) rs1553755078
NM_000091.5(COL4A3):c.2031_2038dup (p.Gly680fs) rs1553758893
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2838_2839del (p.Glu946fs) rs1553760802
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.345del rs749390823
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000091.5(COL4A3):c.4420_4424del (p.Leu1474fs) rs1445615417
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1129C>T (p.Arg377Cys) rs555143841
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1396G>A (p.Gly466Arg) rs201859109
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1598G>A (p.Gly533Asp) rs1553669704
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2045A>G (p.Asp682Gly) rs142093416
NM_000092.4(COL4A4):c.204_212del (p.67_69PGP[1]) rs764884579
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2138_2143dup (p.Gly713_Thr714dup) rs777985749
NM_000092.4(COL4A4):c.2152_2154dup (p.Pro718dup) rs1553644306
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2638del (p.Ala880fs) rs778043831
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.3022G>A (p.Gly1008Arg) rs371172166
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>T (p.Gly1030Val) rs772699709
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.347G>A (p.Gly116Glu) rs1553696235
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3734G>T (p.Gly1245Val) rs1189502123
NM_000092.4(COL4A4):c.3849T>A (p.Ser1283Arg) rs1553625644
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.3976C>A (p.Pro1326Thr) rs754359129
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3983G>C (p.Gly1328Ala) rs1553624173
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4003C>G (p.Pro1335Ala) rs1331634432
NM_000092.4(COL4A4):c.4021C>A (p.Pro1341Thr) rs539867676
NM_000092.4(COL4A4):c.4035G>C (p.Lys1345Asn) rs1369617472
NM_000092.4(COL4A4):c.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4041A>T (p.Leu1347Phe) rs16823077
NM_000092.4(COL4A4):c.4049C>T (p.Pro1350Leu) rs771916354
NM_000092.4(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041
NM_000092.4(COL4A4):c.4058G>A (p.Arg1353Lys) rs747708741
NM_000092.4(COL4A4):c.4070C>T (p.Thr1357Ile) rs1258564025
NM_000092.4(COL4A4):c.4081+14C>T rs1553623984
NM_000092.4(COL4A4):c.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826
NM_000092.4(COL4A4):c.410G>A (p.Gly137Asp) rs377511303
NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861
NM_000092.4(COL4A4):c.4217G>C (p.Gly1406Ala) rs1364711591
NM_000092.4(COL4A4):c.428G>T (p.Gly143Val) rs1553695389
NM_000092.4(COL4A4):c.4298G>A (p.Gly1433Asp) rs1553614863
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350
NM_000092.4(COL4A4):c.4423G>T (p.Asp1475Tyr) rs767457222
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4673C>T (p.Ala1558Val) rs760044982
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.4817G>A (p.Gly1606Glu) rs767901025
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.5029C>T (p.Arg1677Cys) rs759631057
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.5048G>A (p.Cys1683Tyr) rs1386495377
NM_000092.4(COL4A4):c.5073G>C (p.Ter1691Tyr) rs769660371
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.2383+2_2383+5dup rs1553643488
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.2967_2968del (p.Arg989_Gly990insTer) rs748473278
NM_000092.5(COL4A4):c.3584ATG[1] (p.Asp1196del) rs780991255
NM_000092.5(COL4A4):c.477AGG[3] (p.Gly161dup) rs1553695272
NM_000092.5(COL4A4):c.4830AGG[2] (p.Gly1613del) rs768416358
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000124.4(ERCC6):c.-14-2A>G rs760663515
NM_000124.4(ERCC6):c.1009A>T (p.Lys337Ter) rs1198241866
NM_000124.4(ERCC6):c.1062T>A (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.4(ERCC6):c.1134GGA[6] (p.Glu382_Glu384dup) rs1554793268
NM_000124.4(ERCC6):c.1135G>T (p.Glu379Ter) rs1554793270
NM_000124.4(ERCC6):c.1137GGAGGAAGA[1] (p.Glu382_Glu384del) rs1284316063
NM_000124.4(ERCC6):c.1211_1212insTCA (p.Lys405_Pro406insGln) rs772545860
NM_000124.4(ERCC6):c.124GAG[1] (p.Glu43del) rs751610688
NM_000124.4(ERCC6):c.1280T>C (p.Phe427Ser) rs886047038
NM_000124.4(ERCC6):c.1281C>T (p.Phe427=) rs267602508
NM_000124.4(ERCC6):c.1319_1321del (p.Gly440del) rs779180885
NM_000124.4(ERCC6):c.1322_1324del (p.Glu441del) rs769020754
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1397+1G>C rs1554793174
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066
NM_000124.4(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.4(ERCC6):c.1527-2A>G rs768608345
NM_000124.4(ERCC6):c.1595A>G (p.Asp532Gly) rs752712823
NM_000124.4(ERCC6):c.1821+1G>A rs1228919836
NM_000124.4(ERCC6):c.1821delinsAA (p.Glu608fs) rs1554789393
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064
NM_000124.4(ERCC6):c.184G>A (p.Ala62Thr) rs186839348
NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) rs767247987
NM_000124.4(ERCC6):c.2038A>G (p.Asn680Asp) rs1554788393
NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu) rs1026438103
NM_000124.4(ERCC6):c.2073_2074insCCGCTCTTTGACTTC (p.Ile692_Phe693insProLeuPheAspPhe) rs1554788383
NM_000124.4(ERCC6):c.207dup (p.Pro70fs) rs1554794641
NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) rs774791374
NM_000124.4(ERCC6):c.214del (p.Leu72fs) rs1554794640
NM_000124.4(ERCC6):c.2169+1G>A rs1441655600
NM_000124.4(ERCC6):c.2286+1G>A rs1362935450
NM_000124.4(ERCC6):c.2287-2A>G rs754978734
NM_000124.4(ERCC6):c.2383-1G>A rs1554787554
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del) rs886047036
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2560C>T (p.Gln854Ter) rs1554787509
NM_000124.4(ERCC6):c.2569C>T (p.Arg857Ter) rs751448793
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000124.4(ERCC6):c.259_260del (p.Ala87fs) rs1554794620
NM_000124.4(ERCC6):c.2696C>T (p.Thr899Met) rs374470147
NM_000124.4(ERCC6):c.2829+1G>A rs1554875522
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter) rs906755254
NM_000124.4(ERCC6):c.2974C>G (p.Gln992Glu) rs772104945
NM_000124.4(ERCC6):c.3071-1G>A rs1554875287
NM_000124.4(ERCC6):c.3111AAG[1] (p.Arg1039del) rs1342267719
NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) rs786205170
NM_000124.4(ERCC6):c.3435_3437dup (p.Ser1146_Ile1147insArg) rs1435512927
NM_000124.4(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.4(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) rs786205171
NM_000124.4(ERCC6):c.3573AGA[2] (p.Glu1194del) rs1248870490
NM_000124.4(ERCC6):c.3591_3592dup (p.Lys1198fs) rs1287286877
NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) rs786205172
NM_000124.4(ERCC6):c.3614del (p.Lys1205fs) rs1554875155
NM_000124.4(ERCC6):c.3627dup (p.Lys1210Ter) rs1554875154
NM_000124.4(ERCC6):c.3634T>A (p.Cys1212Ser) rs886042655
NM_000124.4(ERCC6):c.3778+1G>C rs1554875114
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_000124.4(ERCC6):c.3871dup (p.Gln1291fs) rs1386369933
NM_000124.4(ERCC6):c.3914_3925del (p.Leu1305_Ser1309delinsPro) rs1554874085
NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) rs765825423
NM_000124.4(ERCC6):c.3957del (p.Ile1320fs) rs1554874073
NM_000124.4(ERCC6):c.3984-2A>G rs1554873973
NM_000124.4(ERCC6):c.4062+2T>A rs1554873950
NM_000124.4(ERCC6):c.4063-1G>C rs766980240
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000124.4(ERCC6):c.422+1G>A rs1198472093
NM_000124.4(ERCC6):c.422+1G>C rs1198472093
NM_000124.4(ERCC6):c.4382C>G (p.Ser1461Ter) rs1554873743
NM_000124.4(ERCC6):c.4399C>T (p.Arg1467Ter) rs762976316
NM_000124.4(ERCC6):c.439del (p.Ser146_Leu147insTer) rs1554794360
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del) rs886047032
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter) rs771781694
NM_000124.4(ERCC6):c.544-2A>G rs1554794073
NM_000124.4(ERCC6):c.595C>G (p.Leu199Val) rs886047039
NM_000124.4(ERCC6):c.61C>T (p.Gln21Ter) rs577021605
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) rs875989810
NM_000124.4(ERCC6):c.779_780dup (p.Arg261fs) rs1254008304
NM_000124.4(ERCC6):c.906_923del (p.Thr303_Val308del) rs765040780
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.29T>C rs878853237
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.133-2A>G rs782064437
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) rs111033219
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.19-2A>G rs1555051384
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928
NM_000260.4(MYO7A):c.2461C>T (p.Gln821Ter) rs1279918132
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876
NM_000260.4(MYO7A):c.285+1G>C rs782661097
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Gln1010_Gly1011insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3504-1G>C rs1555090171
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302
NM_000260.4(MYO7A):c.3594C>A (p.Cys1198Ter) rs782694195
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter) rs766641715
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-11C>T rs727503330
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4297del (p.Gln1433fs) rs1555096223
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4569-1G>A rs775792432
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer) rs1299898646
NM_000260.4(MYO7A):c.5637-173C>T rs207472020
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5886_5889del (p.Phe1962fs) rs1397834886
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.593-4G>A rs876657534
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6321G>A (p.Trp2107Ter) rs773945008
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.2(SLC26A4):c.*51T>C rs371263685
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001+30A>G rs556184448
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1001+5G>T rs780131226
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter) rs121908361
NM_000441.2(SLC26A4):c.1147del (p.Gln383fs) rs1374999656
NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val) rs777333979
NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg) rs1057517042
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437
NM_000441.2(SLC26A4):c.1238del (p.Gln413fs) rs1057516354
NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg) rs1376210516
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1263+1G>T rs1057517000
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042
NM_000441.2(SLC26A4):c.1290_1295dup (p.Ile430_Val431dup) rs1554359598
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349
NM_000441.2(SLC26A4):c.1341+3A>C rs1216900843
NM_000441.2(SLC26A4):c.1342-1G>T rs1057517298
NM_000441.2(SLC26A4):c.1342-2A>C rs1413121429
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.1397G>A (p.Cys466Tyr) rs1554359686
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286
NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter) rs1554359693
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1437+2dup rs1554359702
NM_000441.2(SLC26A4):c.1438-2A>G rs1057516717
NM_000441.2(SLC26A4):c.1438-7del rs753586849
NM_000441.2(SLC26A4):c.1438-7dup rs753586849
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789
NM_000441.2(SLC26A4):c.1472T>C (p.Ile491Thr) rs751744677
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308
NM_000441.2(SLC26A4):c.1489G>C (p.Gly497Arg) rs111033308
NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro) rs1554352291
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1529T>A (p.Val510Asp) rs1554359973
NM_000441.2(SLC26A4):c.1539_1544+6del rs1057516535
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1544+9C>G rs368970459
NM_000441.2(SLC26A4):c.1546C>T (p.Pro516Ser) rs753960052
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919
NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile) rs1057516243
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>A rs397516420
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.165-13T>G rs774685849
NM_000441.2(SLC26A4):c.165-2A>G rs786204458
NM_000441.2(SLC26A4):c.165-3C>G rs1436250461
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257
NM_000441.2(SLC26A4):c.1707+2T>C rs1554360707
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter) rs111033200
NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs) rs1554360841
NM_000441.2(SLC26A4):c.1768A>T (p.Lys590Ter) rs778901860
NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val) rs201709908
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.1804-23T>C rs370827220
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556
NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) rs786204502
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540
NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp) rs1057517161
NM_000441.2(SLC26A4):c.1958T>C (p.Val653Ala) rs1554361015
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424
NM_000441.2(SLC26A4):c.1966del (p.His656fs) rs1057516636
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.1987G>A (p.Gly663Arg) rs1554361031
NM_000441.2(SLC26A4):c.1993A>G (p.Ile665Val) rs371998143
NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn) rs777641484
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2034G>A (p.Val678=) rs1048663788
NM_000441.2(SLC26A4):c.2044G>T (p.Glu682Ter) rs1554361584
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413
NM_000441.2(SLC26A4):c.2067del (p.Asn689fs) rs1057516796
NM_000441.2(SLC26A4):c.2080T>C (p.Ser694Pro) rs981410021
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430
NM_000441.2(SLC26A4):c.2089+2T>A rs1554361624
NM_000441.2(SLC26A4):c.2090-1G>A rs1455597424
NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys) rs147733656
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del) rs1554362748
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs) rs1298217152
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.2205T>G (p.Ser735=) rs1387758666
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.2235+2T>C rs1554362815
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337
NM_000441.2(SLC26A4):c.2263del (p.Thr755fs) rs1554363275
NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu) rs1345175795
NM_000441.2(SLC26A4):c.2281_2286del (p.Thr761_Glu762del) rs1554363304
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.2320-1G>A rs1554363892
NM_000441.2(SLC26A4):c.2320-2A>G rs1275029034
NM_000441.2(SLC26A4):c.2320-4A>C rs727503432
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr) rs1554352718
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr) rs532132864
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg) rs1554354367
NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile) rs1554354370
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly) rs751256128
NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro) rs1554354382
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.415+4A>G rs368280107
NM_000441.2(SLC26A4):c.415+5_415+10del rs766751379
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252
NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr) rs1554354787
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.454del (p.Val152fs) rs1554354801
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326
NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile) rs200229408
NM_000441.2(SLC26A4):c.501_502insCAA (p.Gly168_Thr169insGln) rs758521444
NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del) rs1554352212
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter) rs1057516678
NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala) rs1434359940
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.765+4A>C rs774353111
NM_000441.2(SLC26A4):c.765_765+3del rs756076960
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer) rs1057517246
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563
NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp) rs1554352240
NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln) rs867212046
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-18T>G rs767147359
NM_000441.2(SLC26A4):c.919-19_932del rs1554357206
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1588874677
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1589057333
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001145472.3(LOXHD1):c.2077G>A (p.Glu693Lys) rs200242497
NM_001290285.1(ERCC8):c.-65_-64del rs1404477615
NM_001290285.1(ERCC8):c.-78C>G rs143367518
NM_001290285.1(ERCC8):c.-83_-81delinsTG rs1131691783
NM_001378454.1(ALMS1):c.10221TGC[6] (p.Ala3412dup) rs760731440
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10333C>T (p.Pro3445Ser) rs267599448
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11777CTT[1] (p.Ser3927del) rs1553421645
NM_001378454.1(ALMS1):c.1229_1230del (p.Tyr410fs) rs764503373
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12496C>T (p.Pro4166Ser) rs267599450
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.209ACGAGGAGG[1] (p.70DEE[1]) rs772848105
NM_001378454.1(ALMS1):c.209ACGAGGAGG[3] (p.70DEE[3]) rs772848105
NM_001378454.1(ALMS1):c.2179CAA[1] (p.Gln728del) rs1553403420
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3873_3874del (p.Lys1292fs) rs1553403762
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5198AAG[1] (p.Glu1734del) rs1553404031
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.8075AAG[1] (p.Glu2693del) rs1553409676
NM_001378454.1(ALMS1):c.8315CAT[1] (p.Ser2773del) rs770459045
NM_001378454.1(ALMS1):c.8630CTT[1] (p.Ser2878del) rs1553409754
NM_001378454.1(ALMS1):c.8648AAC[1] (p.Gln2884del) rs777935409
NM_001378454.1(ALMS1):c.8756CTT[1] (p.Ser2920del) rs1553409775
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8992AAT[1] (p.Asn2999del) rs1553409817
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9613ACA[1] (p.Thr3206del) rs762803723
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.3416ATC[1] (p.His1140del) rs1554852410
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4308GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4368-1868GA[2] rs794727570
NM_001384140.1(PCDH15):c.4368-1983_4368-1982del rs1554819767
NM_001384140.1(PCDH15):c.4368-2133TTCCTC[3] rs779691085
NM_001384140.1(PCDH15):c.4368-2221_4368-2216del rs754779351
NM_001384140.1(PCDH15):c.4368-2224CCT[4] rs754779351
NM_001384140.1(PCDH15):c.4368-2362CT[5] rs1554820255
NM_001384140.1(PCDH15):c.4368-2532CT[3] rs1491078644
NM_001384140.1(PCDH15):c.4368-2771TCAG[4] rs770063261
NM_001384140.1(PCDH15):c.4368-3058_4368-3056del rs1358121247
NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys) rs1554816509
NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu) rs1554816210
NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter) rs1554816196
NM_001384140.1(PCDH15):c.4671+1009G>A rs1554815909
NM_001384140.1(PCDH15):c.4671+1077_4671+1082del rs1588876049
NM_001384140.1(PCDH15):c.4671+1403GAG[5] rs1272584101
NM_001384140.1(PCDH15):c.4671+1550C>T rs765589050
NM_001384140.1(PCDH15):c.4671+1559C>T rs368397508
NM_001384140.1(PCDH15):c.4671+1577GAA[3] rs774006219
NM_001384140.1(PCDH15):c.4671+1617_4671+1637del rs769671738
NM_001384140.1(PCDH15):c.4672-1662del rs1554815484
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107
NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs) rs757520086
NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala) rs755487351
NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs) rs1320916581
NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs) rs1554814669
NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del) rs1554814635
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.1469C>T (p.Pro490Leu) rs544337438
NM_001692.4(ATP6V1B1):c.368-6C>T rs200038589
NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=) rs141969350
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874
NM_001692.4(ATP6V1B1):c.484G>T (p.Glu162Ter) rs1553419751
NM_001692.4(ATP6V1B1):c.591C>T (p.Ala197=) rs199914263
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln) rs145196117
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984
NM_001692.4(ATP6V1B1):c.785+10C>T rs76241121
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001692.4(ATP6V1B1):c.905G>C (p.Arg302Pro) rs782461130
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_004004.5(GJB2):c.-259C>T rs1417111166
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-22-1G>A rs551625098
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.-7G>A rs398123813
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976
NM_004004.6(GJB2):c.154G>C (p.Val52Leu) rs1555341987
NM_004004.6(GJB2):c.157T>C (p.Cys53Arg) rs1555341986
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.312G>A (p.Arg104=) rs267603770
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873
NM_004004.6(GJB2):c.327_328delinsA (p.Glu110fs) rs1555341931
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Phe115_Lys116insTer) rs1555341926
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.445_486del (p.Ala149_Ser162del) rs1555341874
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004004.6(GJB2):c.72G>A (p.Trp24Ter) rs769486081
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_007123.5(USH2A):c.1039_1041del (p.Asp347del) rs1553250786
NM_007123.5(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_007123.5(USH2A):c.2390_2410dup (p.Pro804_Gly805insArgAspThrAlaGlySerLeu) rs1553320498
NM_007123.5(USH2A):c.2435_2446del (p.Thr812_Cys815del) rs757082108
NM_007123.5(USH2A):c.2616del (p.Gly873_Val874insTer) rs1553320451
NM_007123.5(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_007123.5(USH2A):c.302del (p.Phe101fs) rs1553258076
NM_007123.5(USH2A):c.313_321del (p.Leu105_Ser107del) rs1396847135
NM_007123.5(USH2A):c.3158-47_3158-17del rs1553315049
NM_007123.5(USH2A):c.3250_3251insTACTTACAGTTTACT (p.Trp1084_Leu1085insLeuLeuThrValTyr) rs1553314999
NM_007123.5(USH2A):c.3596_3598del (p.Glu1199del) rs1294733964
NM_007123.5(USH2A):c.3680dup (p.Cys1228fs) rs1553313793
NM_007123.5(USH2A):c.3891del (p.Gln1298fs) rs1553313551
NM_007123.5(USH2A):c.4189_4193dup (p.Ile1399fs) rs1553313308
NM_007123.5(USH2A):c.442_443inv (p.Phe148Asn)
NM_007123.5(USH2A):c.4521_4522insCAGTCA (p.Ser1508_Leu1509insGlnSer) rs1553310736
NM_007123.5(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_015120.4(ALMS1):c.-12C>G rs1553396082
NM_015120.4(ALMS1):c.-16A>G rs746944958
NM_015120.4(ALMS1):c.-19C>T rs1553396078
NM_015120.4(ALMS1):c.-1C>T rs756956183
NM_015120.4(ALMS1):c.-20G>A rs935547269
NM_015120.4(ALMS1):c.-7C>T rs1296403299
NM_015120.4(ALMS1):c.-8dup rs1553396085
NM_015120.4(ALMS1):c.-9G>A rs1553396083
NM_015120.4(ALMS1):c.10046del (p.Pro3349fs) rs1553416233
NM_015120.4(ALMS1):c.10078+2dup rs755740074
NM_015120.4(ALMS1):c.10079-11C>A rs368250605
NM_015120.4(ALMS1):c.10079-19A>G rs935864365
NM_015120.4(ALMS1):c.10079-1G>C rs1361885101
NM_015120.4(ALMS1):c.10079-4C>G rs1446726516
NM_015120.4(ALMS1):c.10081+10T>C rs752454047
NM_015120.4(ALMS1):c.10082-10G>A rs778996015
NM_015120.4(ALMS1):c.10084G>T (p.Ala3362Ser) rs770904502
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10111G>A (p.Asp3371Asn) rs751123703
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10143G>C (p.Glu3381Asp) rs1045473444
NM_015120.4(ALMS1):c.10180G>A (p.Ala3394Thr) rs145678202
NM_015120.4(ALMS1):c.10180G>C (p.Ala3394Pro) rs145678202
NM_015120.4(ALMS1):c.10213+11T>C rs1553416883
NM_015120.4(ALMS1):c.10213+17G>C rs1553416885
NM_015120.4(ALMS1):c.10213+3A>G rs1553416881
NM_015120.4(ALMS1):c.10214-11C>G rs1365430683
NM_015120.4(ALMS1):c.10214-19G>A rs763103896
NM_015120.4(ALMS1):c.10214-5C>T rs751591632
NM_015120.4(ALMS1):c.10216+1G>A rs374681570
NM_015120.4(ALMS1):c.10227T>C (p.Ala3409=) rs1464934308
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10290_10291del (p.Lys3431fs) rs1553417044
NM_015120.4(ALMS1):c.10307A>G (p.Lys3436Arg) rs187607395
NM_015120.4(ALMS1):c.10319A>G (p.His3440Arg) rs139425340
NM_015120.4(ALMS1):c.10321A>G (p.Arg3441Gly) rs746702722
NM_015120.4(ALMS1):c.10337C>T (p.Pro3446Leu) rs1170663588
NM_015120.4(ALMS1):c.10371A>G (p.Leu3457=) rs929142880
NM_015120.4(ALMS1):c.10377C>G (p.Ile3459Met) rs767799669
NM_015120.4(ALMS1):c.10384+1G>A rs766366221
NM_015120.4(ALMS1):c.10384+2dup rs1255846889
NM_015120.4(ALMS1):c.10384+3A>G rs752727300
NM_015120.4(ALMS1):c.10384+5T>C rs758235228
NM_015120.4(ALMS1):c.10385-7T>G rs1298945759
NM_015120.4(ALMS1):c.10385-9C>T rs568809052
NM_015120.4(ALMS1):c.10392C>T (p.Ser3464=) rs760299487
NM_015120.4(ALMS1):c.10430T>C (p.Val3477Ala) rs750128969
NM_015120.4(ALMS1):c.1044A>G (p.Ser348=) rs1553400737
NM_015120.4(ALMS1):c.10461_10469dup (p.Pro3488_His3490dup) rs1553418413
NM_015120.4(ALMS1):c.10464C>T (p.Pro3488=) rs202036843
NM_015120.4(ALMS1):c.10470C>T (p.His3490=) rs371631738
NM_015120.4(ALMS1):c.10484A>G (p.Gln3495Arg) rs1553418430
NM_015120.4(ALMS1):c.10538_10539insTGTCTTTCCAAGATTGGAA (p.Lys3513fs) rs1220975714
NM_015120.4(ALMS1):c.10547_10548insCA (p.Gln3517fs) rs1553418449
NM_015120.4(ALMS1):c.10549C>T (p.Gln3517Ter) rs375019820
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10574_10575insCACATAGAGA (p.Glu3525delinsAspThrTer) rs1553418457
NM_015120.4(ALMS1):c.10628A>G (p.Tyr3543Cys) rs761771973
NM_015120.4(ALMS1):c.10633A>G (p.Arg3545Gly) rs773075850
NM_015120.4(ALMS1):c.1064C>T (p.Thr355Ile) rs370726988
NM_015120.4(ALMS1):c.10654A>G (p.Asn3552Asp) rs200992340
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.10734T>C (p.Ile3578=) rs1553418487
NM_015120.4(ALMS1):c.10816dup (p.Tyr3606fs) rs1553418505
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10839dup (p.Arg3614fs) rs1553418512
NM_015120.4(ALMS1):c.10847del (p.Pro3616fs) rs1553418513
NM_015120.4(ALMS1):c.10863G>A (p.Arg3621=) rs373682259
NM_015120.4(ALMS1):c.10865A>G (p.Lys3622Arg) rs1288339942
NM_015120.4(ALMS1):c.10976G>A (p.Arg3659Gln) rs781344338
NM_015120.4(ALMS1):c.10988A>G (p.Glu3663Gly) rs377418428
NM_015120.4(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11108G>A (p.Arg3703Gln) rs188864796
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11207C>T (p.Ser3736Leu) rs367877017
NM_015120.4(ALMS1):c.11213G>A (p.Cys3738Tyr) rs1553418562
NM_015120.4(ALMS1):c.11216G>A (p.Arg3739Gln) rs200378498
NM_015120.4(ALMS1):c.11266T>A (p.Ser3756Thr) rs878854995
NM_015120.4(ALMS1):c.11287G>A (p.Glu3763Lys) rs1243181452
NM_015120.4(ALMS1):c.11312A>G (p.Asp3771Gly) rs770147613
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.11417G>A (p.Arg3806Gln) rs201646938
NM_015120.4(ALMS1):c.11443A>G (p.Asn3815Asp) rs369256893
NM_015120.4(ALMS1):c.11444A>C (p.Asn3815Thr) rs763907736
NM_015120.4(ALMS1):c.11460C>T (p.Tyr3820=) rs373397289
NM_015120.4(ALMS1):c.11480A>G (p.His3827Arg) rs371105298
NM_015120.4(ALMS1):c.11514A>G (p.Leu3838=) rs374164508
NM_015120.4(ALMS1):c.11519C>T (p.Thr3840Ile) rs376255515
NM_015120.4(ALMS1):c.11547+12C>A rs755559102
NM_015120.4(ALMS1):c.11547+12C>T rs755559102
NM_015120.4(ALMS1):c.11547+13A>G rs753246208
NM_015120.4(ALMS1):c.11547+16T>C rs373935106
NM_015120.4(ALMS1):c.11547+1G>A rs1553418638
NM_015120.4(ALMS1):c.11547+4C>T rs753353269
NM_015120.4(ALMS1):c.11547+5A>C rs1181494101
NM_015120.4(ALMS1):c.11547+7G>C rs1553418641
NM_015120.4(ALMS1):c.11548-19A>T rs760271173
NM_015120.4(ALMS1):c.11548-3T>C rs555547573
NM_015120.4(ALMS1):c.11562T>A (p.His3854Gln) rs186141821
NM_015120.4(ALMS1):c.11614A>T (p.Asn3872Tyr) rs368957150
NM_015120.4(ALMS1):c.11619dup (p.Thr3874fs) rs1553421488
NM_015120.4(ALMS1):c.11629A>G (p.Asn3877Asp) rs377130177
NM_015120.4(ALMS1):c.11649_11651dup (p.Leu3884dup) rs1468861836
NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs) rs760264695
NM_015120.4(ALMS1):c.11668+12A>G rs1553421500
NM_015120.4(ALMS1):c.11668+17A>G rs201109126
NM_015120.4(ALMS1):c.11668+6T>G rs1553421499
NM_015120.4(ALMS1):c.11669-11del rs1261279730
NM_015120.4(ALMS1):c.11669-12C>T rs774970704
NM_015120.4(ALMS1):c.11669-14A>G rs768036112
NM_015120.4(ALMS1):c.11669-17A>G rs762591261
NM_015120.4(ALMS1):c.11669-1G>A rs750737346
NM_015120.4(ALMS1):c.11669-3C>T rs767901840
NM_015120.4(ALMS1):c.11669-7C>A rs548573570
NM_015120.4(ALMS1):c.11670del (p.Gly3891fs) rs1553421496
NM_015120.4(ALMS1):c.11703del (p.Lys3901fs) rs1553421626
NM_015120.4(ALMS1):c.11708C>G (p.Thr3903Ser) rs369008610
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11758T>C (p.Leu3920=) rs750372739
NM_015120.4(ALMS1):c.11781T>C (p.Thr3927=) rs368160921
NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) rs45576434
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11872+12A>G rs193922691
NM_015120.4(ALMS1):c.11872+2T>A rs1553421657
NM_015120.4(ALMS1):c.11872+7T>A rs763235048
NM_015120.4(ALMS1):c.11872+9C>G rs768886966
NM_015120.4(ALMS1):c.11873-11G>A rs571456553
NM_015120.4(ALMS1):c.11873-11G>T rs571456553
NM_015120.4(ALMS1):c.11873-4G>A rs1553421697
NM_015120.4(ALMS1):c.11873-6C>T rs749542120
NM_015120.4(ALMS1):c.11873-7C>T rs1553421696
NM_015120.4(ALMS1):c.11896G>T (p.Val3966Leu) rs199683521
NM_015120.4(ALMS1):c.11900A>T (p.Glu3967Val) rs377523400
NM_015120.4(ALMS1):c.1191G>A (p.Gln397=) rs368655814
NM_015120.4(ALMS1):c.11932G>A (p.Val3978Met) rs185423930
NM_015120.4(ALMS1):c.1195dup (p.Trp399fs) rs1553400778
NM_015120.4(ALMS1):c.11974A>G (p.Ile3992Val) rs368146962
NM_015120.4(ALMS1):c.11997G>C (p.Arg3999Ser) rs28730862
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.12008G>A (p.Arg4003Gln) rs375923289
NM_015120.4(ALMS1):c.12019T>C (p.Cys4007Arg) rs201959964
NM_015120.4(ALMS1):c.1202A>G (p.Gln401Arg) rs372747251
NM_015120.4(ALMS1):c.12039C>A (p.Asp4013Glu) rs370981817
NM_015120.4(ALMS1):c.12078del (p.Arg4027fs) rs1553421739
NM_015120.4(ALMS1):c.12086_12089del (p.Leu4029fs) rs1553421741
NM_015120.4(ALMS1):c.12093_12104del (p.Pro4032_Arg4035del) rs1245181381
NM_015120.4(ALMS1):c.12107_12108del (p.Ala4036fs) rs1553421752
NM_015120.4(ALMS1):c.12114+12T>C rs377393930
NM_015120.4(ALMS1):c.12114+14G>T rs1057524070
NM_015120.4(ALMS1):c.12114+19A>G rs760374917
NM_015120.4(ALMS1):c.12114+19A>T rs760374917
NM_015120.4(ALMS1):c.12114+1G>T rs376719320
NM_015120.4(ALMS1):c.12114+3_12114+12del rs1348254028
NM_015120.4(ALMS1):c.12114+4C>T rs373191489
NM_015120.4(ALMS1):c.12115-8T>C rs78455676
NM_015120.4(ALMS1):c.12139C>T (p.Pro4047Ser) rs371269253
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12153C>A (p.Ser4051=) rs1553421877
NM_015120.4(ALMS1):c.12175C>T (p.Arg4059Cys) rs1270753573
NM_015120.4(ALMS1):c.12176G>A (p.Arg4059His) rs61743400
NM_015120.4(ALMS1):c.12177C>T (p.Arg4059=) rs377661858
NM_015120.4(ALMS1):c.12178_12180delinsTT (p.Lys4061fs) rs1553421886
NM_015120.4(ALMS1):c.12201G>A (p.Arg4067=) rs199603690
NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His) rs878854996
NM_015120.4(ALMS1):c.12229C>T (p.Arg4077Trp) rs368113488
NM_015120.4(ALMS1):c.12230G>A (p.Arg4077Gln) rs200814417
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12287C>T (p.Pro4096Leu) rs750502331
NM_015120.4(ALMS1):c.12298+14G>A rs755931726
NM_015120.4(ALMS1):c.12298+19C>T rs1553421935
NM_015120.4(ALMS1):c.12299-14C>T rs1352077204
NM_015120.4(ALMS1):c.12299-15T>C rs1553422033
NM_015120.4(ALMS1):c.12299-15_12299-12del rs775452962
NM_015120.4(ALMS1):c.12299-1G>A rs1313101326
NM_015120.4(ALMS1):c.12299-3T>C rs1553422034
NM_015120.4(ALMS1):c.12301+7C>T rs1252100215
NM_015120.4(ALMS1):c.12302-6G>A rs771317399
NM_015120.4(ALMS1):c.12305_12308del (p.Phe4102fs) rs1553422035
NM_015120.4(ALMS1):c.12333C>G (p.Ile4111Met) rs375524122
NM_015120.4(ALMS1):c.12353A>G (p.Gln4118Arg) rs200038446
NM_015120.4(ALMS1):c.12362+16C>G rs1553422061
NM_015120.4(ALMS1):c.12363-12G>A rs749504196
NM_015120.4(ALMS1):c.12363-14G>A rs377374398
NM_015120.4(ALMS1):c.12363-6T>G rs1553422641
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12365G>A (p.Arg4122Gln) rs376602261
NM_015120.4(ALMS1):c.1237+14T>C rs1482335275
NM_015120.4(ALMS1):c.1238-11C>G rs1553400951
NM_015120.4(ALMS1):c.1238-11C>T rs1553400951
NM_015120.4(ALMS1):c.1238-20A>G rs771811655
NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) rs371587051
NM_015120.4(ALMS1):c.12397_12400dup (p.Arg4134fs) rs776401197
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.1240+8C>A rs771449454
NM_015120.4(ALMS1):c.1240+9C>G rs201471551
NM_015120.4(ALMS1):c.1240+9C>T rs201471551
NM_015120.4(ALMS1):c.12439C>T (p.Arg4147Trp) rs763519566
NM_015120.4(ALMS1):c.12445C>T (p.Arg4149Ter) rs192496253
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12462+10T>C rs748315200
NM_015120.4(ALMS1):c.12462+12C>T rs1553422680
NM_015120.4(ALMS1):c.12462+12_12462+18del rs1374364094
NM_015120.4(ALMS1):c.12462+19T>C rs1309452497
NM_015120.4(ALMS1):c.12462+1del rs750907119
NM_015120.4(ALMS1):c.12462+3C>T rs1553422676
NM_015120.4(ALMS1):c.12462+5G>A rs1553422678
NM_015120.4(ALMS1):c.12463-10T>C rs754172101
NM_015120.4(ALMS1):c.12463-14C>G rs766656843
NM_015120.4(ALMS1):c.12464del (p.Lys4155fs) rs1553422659
NM_015120.4(ALMS1):c.12466-11_12466-7del rs1553422758
NM_015120.4(ALMS1):c.12466-9C>G rs1553422761
NM_015120.4(ALMS1):c.1250del (p.Gln417fs) rs1553400956
NM_015120.4(ALMS1):c.1338+11A>G rs1553400967
NM_015120.4(ALMS1):c.1338+18G>A rs369695595
NM_015120.4(ALMS1):c.1338+20T>A rs1466354765
NM_015120.4(ALMS1):c.1339-12G>T rs1260375872
NM_015120.4(ALMS1):c.1339-20C>T rs1553401589
NM_015120.4(ALMS1):c.1339-3A>C rs572922738
NM_015120.4(ALMS1):c.1339-5A>G rs373469023
NM_015120.4(ALMS1):c.1339-5A>T rs373469023
NM_015120.4(ALMS1):c.1339-6C>T rs1553401597
NM_015120.4(ALMS1):c.1342-8C>T rs1553401596
NM_015120.4(ALMS1):c.1342C>G (p.Pro448Ala) rs377283762
NM_015120.4(ALMS1):c.140_142del (p.Val47del) rs1553396198
NM_015120.4(ALMS1):c.140_148dup (p.44_46VEE[3]) rs1286794312
NM_015120.4(ALMS1):c.1429_1434del (p.Lys477_Ala478del) rs1553401631
NM_015120.4(ALMS1):c.1432+12A>G rs1553401640
NM_015120.4(ALMS1):c.1432+14G>A rs1204922039
NM_015120.4(ALMS1):c.1432+15G>A rs376610564
NM_015120.4(ALMS1):c.1432+16A>G rs1553401642
NM_015120.4(ALMS1):c.1432+1G>T rs1553401634
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1432+4C>T rs200933935
NM_015120.4(ALMS1):c.1432+5G>A rs755613962
NM_015120.4(ALMS1):c.1433-14C>A rs1553403232
NM_015120.4(ALMS1):c.1433-3T>C rs367710998
NM_015120.4(ALMS1):c.1435+7A>G rs1468328132
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
NM_015120.4(ALMS1):c.1560del (p.Gln520fs) rs1553403262
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1698T>C (p.Thr566=) rs368992526
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1720A>G (p.Ser574Gly) rs143478466
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1857C>T (p.Thr619=) rs1327400351
NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) rs193922693
NM_015120.4(ALMS1):c.191_192delinsC (p.Gln64fs) rs1553396238
NM_015120.4(ALMS1):c.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_015120.4(ALMS1):c.2002A>G (p.Thr668Ala) rs28730850
NM_015120.4(ALMS1):c.2025C>T (p.Asp675=) rs374151754
NM_015120.4(ALMS1):c.207_215del (p.Ile69_Glu72delinsMet) rs1553396244
NM_015120.4(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_015120.4(ALMS1):c.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2131A>G (p.Thr711Ala) rs367641723
NM_015120.4(ALMS1):c.2133_2137del (p.Val712fs) rs1553403401
NM_015120.4(ALMS1):c.2137C>G (p.Leu713Val) rs371524359
NM_015120.4(ALMS1):c.2140T>C (p.Ser714Pro) rs1248095655
NM_015120.4(ALMS1):c.2141C>G (p.Ser714Cys) rs771496254
NM_015120.4(ALMS1):c.2155C>T (p.His719Tyr) rs199572177
NM_015120.4(ALMS1):c.2158A>G (p.Arg720Gly) rs1446915143
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2224dup (p.Thr742fs) rs769291842
NM_015120.4(ALMS1):c.2296T>C (p.Ser766Pro) rs373936479
NM_015120.4(ALMS1):c.2296_2299del (p.Ser766fs) rs1457500348
NM_015120.4(ALMS1):c.2299C>A (p.Gln767Lys) rs377000488
NM_015120.4(ALMS1):c.2312C>T (p.Pro771Leu) rs187132771
NM_015120.4(ALMS1):c.2377G>C (p.Ala793Pro) rs1181372708
NM_015120.4(ALMS1):c.237C>G (p.Ala79=) rs368947491
NM_015120.4(ALMS1):c.2416A>G (p.Thr806Ala) rs772260271
NM_015120.4(ALMS1):c.2423C>G (p.Pro808Arg) rs372717861
NM_015120.4(ALMS1):c.2437T>G (p.Ser813Ala) rs376991574
NM_015120.4(ALMS1):c.2446G>C (p.Glu816Gln) rs370978261
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) rs370830603
NM_015120.4(ALMS1):c.2497G>A (p.Glu833Lys) rs373979607
NM_015120.4(ALMS1):c.2524T>C (p.Ser842Pro) rs949198387
NM_015120.4(ALMS1):c.2632A>G (p.Asn878Asp) rs776351580
NM_015120.4(ALMS1):c.2683G>T (p.Gly895Cys) rs374262388
NM_015120.4(ALMS1):c.2689C>G (p.Gln897Glu) rs376834704
NM_015120.4(ALMS1):c.2742G>C (p.Lys914Asn) rs373378385
NM_015120.4(ALMS1):c.2746A>G (p.Ile916Val) rs200704524
NM_015120.4(ALMS1):c.2755dup (p.Ser919fs) rs1230351650
NM_015120.4(ALMS1):c.2756C>G (p.Ser919Cys) rs369228801
NM_015120.4(ALMS1):c.2793dup (p.Ala932fs) rs1553403560
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.2851G>T (p.Val951Leu) rs370733145
NM_015120.4(ALMS1):c.2852T>C (p.Val951Ala) rs374139959
NM_015120.4(ALMS1):c.286C>T (p.Gln96Ter) rs750326619
NM_015120.4(ALMS1):c.287dup (p.His97fs) rs1553396293
NM_015120.4(ALMS1):c.2883A>G (p.Lys961=) rs1238528749
NM_015120.4(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319
NM_015120.4(ALMS1):c.2925A>T (p.Leu975=) rs199769789
NM_015120.4(ALMS1):c.2928T>C (p.Pro976=) rs751486678
NM_015120.4(ALMS1):c.2993C>T (p.Thr998Ile) rs1240072348
NM_015120.4(ALMS1):c.299C>A (p.Ser100Ter) rs1553396296
NM_015120.4(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_015120.4(ALMS1):c.3016C>T (p.His1006Tyr) rs1039388814
NM_015120.4(ALMS1):c.3041A>G (p.Tyr1014Cys) rs371893544
NM_015120.4(ALMS1):c.3044_3045delinsT (p.Gln1015fs) rs1553403598
NM_015120.4(ALMS1):c.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.3120G>T (p.Lys1040Asn) rs748646844
NM_015120.4(ALMS1):c.3123T>A (p.Thr1041=) rs372764773
NM_015120.4(ALMS1):c.3130C>T (p.Pro1044Ser) rs376987487
NM_015120.4(ALMS1):c.324+12C>T rs1553396311
NM_015120.4(ALMS1):c.324+14G>A rs1553396313
NM_015120.4(ALMS1):c.324+16G>C rs1276086207
NM_015120.4(ALMS1):c.324+16G>T rs1276086207
NM_015120.4(ALMS1):c.324+18G>A rs1553396316
NM_015120.4(ALMS1):c.324+4A>G rs1553396304
NM_015120.4(ALMS1):c.324+7C>G rs1230102179
NM_015120.4(ALMS1):c.325-15_325-13del rs1553398832
NM_015120.4(ALMS1):c.325-1G>A rs764337753
NM_015120.4(ALMS1):c.3258G>C (p.Gln1086His) rs181507134
NM_015120.4(ALMS1):c.327+10G>C rs778690416
NM_015120.4(ALMS1):c.3271C>G (p.Pro1091Ala) rs376232524
NM_015120.4(ALMS1):c.328-6T>C rs760582213
NM_015120.4(ALMS1):c.328-8A>C rs200740825
NM_015120.4(ALMS1):c.3281C>T (p.Pro1094Leu) rs766187468
NM_015120.4(ALMS1):c.32dup (p.Leu12fs) rs1553396098
NM_015120.4(ALMS1):c.3327A>G (p.Gln1109=) rs780391682
NM_015120.4(ALMS1):c.332T>C (p.Val111Ala) rs1193275022
NM_015120.4(ALMS1):c.3340del (p.Glu1114fs) rs1553403656
NM_015120.4(ALMS1):c.3398A>G (p.Gln1133Arg) rs202114540
NM_015120.4(ALMS1):c.3415A>G (p.Thr1139Ala) rs201884768
NM_015120.4(ALMS1):c.3475G>A (p.Ala1159Thr) rs376302473
NM_015120.4(ALMS1):c.3481C>T (p.Pro1161Ser) rs1164554577
NM_015120.4(ALMS1):c.3492_3501del (p.His1164fs) rs1553403685
NM_015120.4(ALMS1):c.3581C>T (p.Ser1194Leu) rs200636395
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.35_46dup (p.Glu16_Glu17insValGluGluGlu) rs1553396123
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.363_364insTATCAAGTATATCAA (p.Val122_Tyr123insTyrGlnValTyrGln) rs1553398843
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
NM_015120.4(ALMS1):c.3703C>T (p.Pro1235Ser) rs777259139
NM_015120.4(ALMS1):c.3818_3820del (p.Val1273del) rs954466797
NM_015120.4(ALMS1):c.3828A>G (p.Thr1276=) rs1553403752
NM_015120.4(ALMS1):c.3831T>C (p.Thr1277=) rs1553403755
NM_015120.4(ALMS1):c.3841G>A (p.Ala1281Thr) rs767729719
NM_015120.4(ALMS1):c.4048C>T (p.Pro1350Ser) rs1553403796
NM_015120.4(ALMS1):c.4126A>G (p.Thr1376Ala) rs760866713
NM_015120.4(ALMS1):c.4153C>T (p.His1385Tyr) rs1228297685
NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4184A>G (p.Gln1395Arg) rs368955191
NM_015120.4(ALMS1):c.4234G>A (p.Val1412Ile) rs1553403843
NM_015120.4(ALMS1):c.4252C>T (p.Arg1418Trp) rs199615803
NM_015120.4(ALMS1):c.4252del (p.Arg1418fs) rs1553403851
NM_015120.4(ALMS1):c.4253G>A (p.Arg1418Gln) rs771362238
NM_015120.4(ALMS1):c.4270A>T (p.Thr1424Ser) rs746145270
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4327G>T (p.Val1443Phe) rs375842278
NM_015120.4(ALMS1):c.4334del (p.Pro1445fs) rs1553403864
NM_015120.4(ALMS1):c.4350dup (p.Glu1451Ter) rs778728424
NM_015120.4(ALMS1):c.4408C>A (p.Pro1470Thr) rs373638043
NM_015120.4(ALMS1):c.4428del (p.Ser1477fs) rs1553403882
NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) rs370271775
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.4486C>G (p.Leu1496Val) rs373213201
NM_015120.4(ALMS1):c.450+11T>C rs763724672
NM_015120.4(ALMS1):c.450+11T>G rs763724672
NM_015120.4(ALMS1):c.450+12G>A rs1553398856
NM_015120.4(ALMS1):c.450+19G>A rs1553398858
NM_015120.4(ALMS1):c.450+22_450+25del rs764559198
NM_015120.4(ALMS1):c.450+24_450+40del rs1553398860
NM_015120.4(ALMS1):c.450+3A>G rs1371008925
NM_015120.4(ALMS1):c.451-12A>G rs1274254541
NM_015120.4(ALMS1):c.451-16T>C rs1553399953
NM_015120.4(ALMS1):c.451-19T>C rs768590349
NM_015120.4(ALMS1):c.451-20T>C rs762592063
NM_015120.4(ALMS1):c.453+7C>A rs775200355
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.4619T>C (p.Leu1540Pro) rs368273962
NM_015120.4(ALMS1):c.4629A>C (p.Gln1543His) rs201603580
NM_015120.4(ALMS1):c.468G>C (p.Trp156Cys) rs1414087888
NM_015120.4(ALMS1):c.46_47insGGG (p.Glu16_Glu17insGly) rs778948871
NM_015120.4(ALMS1):c.4733C>A (p.Pro1578Gln) rs148568833
NM_015120.4(ALMS1):c.4830C>T (p.Asp1610=) rs371708421
NM_015120.4(ALMS1):c.4846T>A (p.Leu1616Ile) rs375736124
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.4875C>T (p.Pro1625=) rs372692493
NM_015120.4(ALMS1):c.488T>C (p.Met163Thr) rs371903967
NM_015120.4(ALMS1):c.4946C>G (p.Pro1649Arg) rs372540975
NM_015120.4(ALMS1):c.5013_5035del (p.Lys1671fs) rs1553403989
NM_015120.4(ALMS1):c.5038C>G (p.Leu1680Val) rs760829019
NM_015120.4(ALMS1):c.5098G>A (p.Ala1700Thr) rs1553404004
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5177C>A (p.Ala1726Asp) rs764135516
NM_015120.4(ALMS1):c.5179C>T (p.Leu1727=) rs373864798
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5197A>T (p.Thr1733Ser) rs370735089
NM_015120.4(ALMS1):c.5199_5200del (p.Gln1734fs) rs1553404028
NM_015120.4(ALMS1):c.5202A>G (p.Gln1734=) rs374143515
NM_015120.4(ALMS1):c.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.539C>T (p.Thr180Met) rs768531502
NM_015120.4(ALMS1):c.5418del (p.Tyr1807fs) rs1553404066
NM_015120.4(ALMS1):c.5420A>G (p.Tyr1807Cys) rs374046216
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5487G>T (p.Leu1829Phe) rs376996058
NM_015120.4(ALMS1):c.54G>A (p.Glu18=) rs1553396127
NM_015120.4(ALMS1):c.54_55insAAGGAG (p.Glu19_Glu20insLysGlu) rs1553396125
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015120.4(ALMS1):c.5535C>T (p.Asn1845=) rs369656698
NM_015120.4(ALMS1):c.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.5568G>A (p.Glu1856=) rs535259433
NM_015120.4(ALMS1):c.5569C>G (p.His1857Asp) rs777664567
NM_015120.4(ALMS1):c.5573C>G (p.Ser1858Cys) rs375354717
NM_015120.4(ALMS1):c.560A>C (p.Asp187Ala) rs375830111
NM_015120.4(ALMS1):c.5611G>A (p.Glu1871Lys) rs372714431
NM_015120.4(ALMS1):c.5625del (p.Ala1876fs) rs1057517445
NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs) rs1553404109
NM_015120.4(ALMS1):c.5761G>A (p.Val1921Ile) rs373489525
NM_015120.4(ALMS1):c.5764T>G (p.Phe1922Val) rs545488125
NM_015120.4(ALMS1):c.5780A>G (p.Gln1927Arg) rs376161519
NM_015120.4(ALMS1):c.5825A>G (p.Tyr1942Cys) rs374676136
NM_015120.4(ALMS1):c.5831G>T (p.Arg1944Leu) rs146669152
NM_015120.4(ALMS1):c.5845A>G (p.Ser1949Gly) rs367728446
NM_015120.4(ALMS1):c.5851A>G (p.Ile1951Val) rs140062566
NM_015120.4(ALMS1):c.5852T>C (p.Ile1951Thr) rs773754661
NM_015120.4(ALMS1):c.5863del (p.Glu1955fs) rs1553404150
NM_015120.4(ALMS1):c.5873A>G (p.Asp1958Gly) rs1464393698
NM_015120.4(ALMS1):c.5889del (p.Glu1964fs) rs1553404156
NM_015120.4(ALMS1):c.58G>A (p.Glu20Lys) rs939208094
NM_015120.4(ALMS1):c.5907_5915del (p.Pro1970_Ser1972del) rs1060500042
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.5981_5982del (p.Lys1994fs) rs1553404180
NM_015120.4(ALMS1):c.5993A>G (p.Lys1998Arg) rs150331660
NM_015120.4(ALMS1):c.604C>G (p.Gln202Glu) rs376989302
NM_015120.4(ALMS1):c.6062C>T (p.Ser2021Leu) rs372116790
NM_015120.4(ALMS1):c.6071A>G (p.Glu2024Gly) rs376120513
NM_015120.4(ALMS1):c.6074A>G (p.Lys2025Arg) rs369339997
NM_015120.4(ALMS1):c.6079A>G (p.Lys2027Glu) rs191286546
NM_015120.4(ALMS1):c.608_613del (p.Val203_Lys204del) rs1553399981
NM_015120.4(ALMS1):c.6095T>C (p.Ile2032Thr) rs374673974
NM_015120.4(ALMS1):c.60G>A (p.Glu20=) rs866503570
NM_015120.4(ALMS1):c.6115A>T (p.Thr2039Ser) rs369011755
NM_015120.4(ALMS1):c.6146A>G (p.Tyr2049Cys) rs201162418
NM_015120.4(ALMS1):c.6218T>C (p.Leu2073Pro) rs1382952433
NM_015120.4(ALMS1):c.6219A>G (p.Leu2073=) rs754288227
NM_015120.4(ALMS1):c.63_64insCAG (p.Glu22_Glu23insGln) rs1553396137
NM_015120.4(ALMS1):c.6436C>A (p.Arg2146=) rs770558150
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.646+10G>A rs1553399998
NM_015120.4(ALMS1):c.646+4A>T rs1270489328
NM_015120.4(ALMS1):c.646+5T>C rs1235104737
NM_015120.4(ALMS1):c.646+8C>T rs760012033
NM_015120.4(ALMS1):c.647-19_647-18insT rs1553400422
NM_015120.4(ALMS1):c.647-5T>C rs913268523
NM_015120.4(ALMS1):c.6486_6489del (p.Thr2163fs) rs1553404252
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.6499C>G (p.Leu2167Val) rs1200119538
NM_015120.4(ALMS1):c.650-4A>G rs1553400427
NM_015120.4(ALMS1):c.6541G>A (p.Gly2181Arg) rs145953016
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_015120.4(ALMS1):c.6573_6576dup (p.Gly2193fs) rs1553404277
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6607G>A (p.Val2203Ile) rs371544118
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.6640G>T (p.Asp2214Tyr) rs367656336
NM_015120.4(ALMS1):c.6693del (p.Val2232fs) rs1553404305
NM_015120.4(ALMS1):c.66_67insAAG (p.Glu23_Glu24insLys) rs905301935
NM_015120.4(ALMS1):c.6709C>A (p.Pro2237Thr) rs200724860
NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.67_68insTGG (p.Glu23_Glu24insVal) rs1553396144
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6802A>G (p.Met2268Val) rs142904692
NM_015120.4(ALMS1):c.6819G>A (p.Met2273Ile) rs765233946
NM_015120.4(ALMS1):c.6840del (p.Pro2281fs) rs1553404337
NM_015120.4(ALMS1):c.6856C>T (p.Arg2286Cys) rs375458331
NM_015120.4(ALMS1):c.6857G>T (p.Arg2286Leu) rs6546839
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.6928dup (p.Thr2310fs) rs1553404368
NM_015120.4(ALMS1):c.6929C>T (p.Thr2310Met) rs147001219
NM_015120.4(ALMS1):c.6969C>T (p.Phe2323=) rs370287018
NM_015120.4(ALMS1):c.698dup (p.Leu233fs) rs1553400437
NM_015120.4(ALMS1):c.69_70insAAGGAG (p.Glu24_Glu25insLysGlu) rs1553396142
NM_015120.4(ALMS1):c.7007A>T (p.Asp2336Val) rs771422712
NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) rs373004988
NM_015120.4(ALMS1):c.7020G>A (p.Gln2340=) rs190319211
NM_015120.4(ALMS1):c.7034G>C (p.Cys2345Ser) rs148306148
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7175A>T (p.Glu2392Val) rs368310126
NM_015120.4(ALMS1):c.7196C>A (p.Thr2399Asn) rs200470452
NM_015120.4(ALMS1):c.719C>T (p.Ala240Val) rs370830919
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7229C>G (p.Thr2410Ser) rs866357733
NM_015120.4(ALMS1):c.7229del (p.Thr2410fs) rs1553404423
NM_015120.4(ALMS1):c.7240dup (p.Ser2414fs) rs1553404426
NM_015120.4(ALMS1):c.7280G>C (p.Cys2427Ser) rs35649068
NM_015120.4(ALMS1):c.7290C>G (p.Asp2430Glu) rs994637726
NM_015120.4(ALMS1):c.72_73insAAG (p.Glu25_Glu26insLys) rs1006328829
NM_015120.4(ALMS1):c.7333_7334delinsATA (p.Leu2445fs) rs1553404457
NM_015120.4(ALMS1):c.7362G>T (p.Lys2454Asn) rs1400122858
NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) rs1225343345
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.7391_7395dup (p.Val2466fs) rs1553404473
NM_015120.4(ALMS1):c.7405A>G (p.Ser2469Gly) rs1007457582
NM_015120.4(ALMS1):c.7407T>A (p.Ser2469Arg) rs749127545
NM_015120.4(ALMS1):c.7457del (p.Asn2486fs) rs1217507627
NM_015120.4(ALMS1):c.7540+11A>G rs1553404509
NM_015120.4(ALMS1):c.7540+14T>G rs533780922
NM_015120.4(ALMS1):c.7540+20C>A rs1410444926
NM_015120.4(ALMS1):c.7541-15A>G rs1169514054
NM_015120.4(ALMS1):c.7541-17G>C rs758134188
NM_015120.4(ALMS1):c.7541-19G>A rs1553404624
NM_015120.4(ALMS1):c.7541-4C>G rs1380143996
NM_015120.4(ALMS1):c.7541-8C>A rs1553404629
NM_015120.4(ALMS1):c.7542_7543insAAT (p.Ala2515_Trp2516insAsn) rs757932553
NM_015120.4(ALMS1):c.7544-6C>T rs1408073039
NM_015120.4(ALMS1):c.7562A>G (p.Asn2521Ser) rs377085127
NM_015120.4(ALMS1):c.756_757insA (p.Ala253fs) rs748892226
NM_015120.4(ALMS1):c.7580G>A (p.Gly2527Glu) rs201654702
NM_015120.4(ALMS1):c.75G>A (p.Glu25=) rs1483677896
NM_015120.4(ALMS1):c.75_76insAAG (p.Glu26_Glu27insLys) rs1553396155
NM_015120.4(ALMS1):c.760C>T (p.Pro254Ser) rs368153355
NM_015120.4(ALMS1):c.764+14T>C rs1553400457
NM_015120.4(ALMS1):c.764+19A>G rs1035974697
NM_015120.4(ALMS1):c.764+3A>G rs772334395
NM_015120.4(ALMS1):c.764+4G>A rs1167438151
NM_015120.4(ALMS1):c.7642T>G (p.Leu2548Val) rs200155429
NM_015120.4(ALMS1):c.765-12A>G rs200209691
NM_015120.4(ALMS1):c.765-13TA[2] rs1553400662
NM_015120.4(ALMS1):c.765-16A>G rs765256601
NM_015120.4(ALMS1):c.7656A>T (p.Gly2552=) rs1553404658
NM_015120.4(ALMS1):c.767+9A>T rs551013858
NM_015120.4(ALMS1):c.7674+10A>G rs1553404676
NM_015120.4(ALMS1):c.7674+3A>G rs1553404673
NM_015120.4(ALMS1):c.7674+5A>G rs756532322
NM_015120.4(ALMS1):c.7675-19G>A rs1399037677
NM_015120.4(ALMS1):c.7675-2A>G rs748477695
NM_015120.4(ALMS1):c.7675-7C>T rs1553409573
NM_015120.4(ALMS1):c.7675-8T>A rs1553409572
NM_015120.4(ALMS1):c.7677+9G>T rs1046548369
NM_015120.4(ALMS1):c.768-6T>A rs755762723
NM_015120.4(ALMS1):c.7700T>C (p.Met2567Thr) rs373385088
NM_015120.4(ALMS1):c.7703G>T (p.Gly2568Val) rs199831059
NM_015120.4(ALMS1):c.772del (p.Ile258fs) rs1553400675
NM_015120.4(ALMS1):c.7746C>T (p.Ser2582=) rs370740871
NM_015120.4(ALMS1):c.7764C>T (p.Phe2588=) rs1553409598
NM_015120.4(ALMS1):c.77_78insCGA (p.Glu26_Glu27insAsp) rs1491479006
NM_015120.4(ALMS1):c.77_78insGAGGAA (p.Glu27_Glu28insArgLys) rs1574423810
NM_015120.4(ALMS1):c.77_78insGGC (p.Glu27_Glu28insAla) rs1553396120
NM_015120.4(ALMS1):c.780T>G (p.Asp260Glu) rs190445250
NM_015120.4(ALMS1):c.7815C>G (p.Phe2605Leu) rs201739856
NM_015120.4(ALMS1):c.7830del (p.Ser2611fs) rs1553409617
NM_015120.4(ALMS1):c.783G>A (p.Lys261=) rs1553400683
NM_015120.4(ALMS1):c.7881T>A (p.His2627Gln) rs940478567
NM_015120.4(ALMS1):c.7895C>T (p.Ala2632Val) rs1027248513
NM_015120.4(ALMS1):c.78_80dup (p.Glu29dup) rs1553396161
NM_015120.4(ALMS1):c.7903G>T (p.Asp2635Tyr) rs201426207
NM_015120.4(ALMS1):c.7915T>A (p.Ser2639Thr) rs548882067
NM_015120.4(ALMS1):c.7986A>T (p.Glu2662Asp) rs1213279792
NM_015120.4(ALMS1):c.8001_8016dup (p.Phe2673fs) rs1553409656
NM_015120.4(ALMS1):c.8034C>A (p.Asp2678Glu) rs754078506
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.8077A>G (p.Lys2693Glu) rs201025991
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) rs368409205
NM_015120.4(ALMS1):c.8198T>C (p.Val2733Ala) rs200859630
NM_015120.4(ALMS1):c.8200A>C (p.Lys2734Gln) rs1553409698
NM_015120.4(ALMS1):c.8243T>G (p.Val2748Gly) rs188857186
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8361_8366del (p.Ile2788_Leu2789del) rs1553409711
NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs) rs1553409715
NM_015120.4(ALMS1):c.8563C>G (p.Leu2855Val) rs765176591
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.8657G>A (p.Arg2886Gln) rs185447739
NM_015120.4(ALMS1):c.8714A>C (p.His2905Pro) rs370508584
NM_015120.4(ALMS1):c.8721dup (p.Ser2908fs) rs1553409764
NM_015120.4(ALMS1):c.875G>C (p.Ser292Thr) rs568470985
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.8867C>G (p.Ser2956Cys) rs1248081824
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8904A>G (p.Glu2968=) rs371736476
NM_015120.4(ALMS1):c.8931A>G (p.Val2977=) rs373374154
NM_015120.4(ALMS1):c.8977G>T (p.Asp2993Tyr) rs937731506
NM_015120.4(ALMS1):c.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.905T>C (p.Ile302Thr) rs374259576
NM_015120.4(ALMS1):c.9115C>T (p.Pro3039Ser) rs370622410
NM_015120.4(ALMS1):c.9173_9193dup (p.Ser3058_Thr3064dup) rs1455775922
NM_015120.4(ALMS1):c.9176A>G (p.Lys3059Arg) rs149329669
NM_015120.4(ALMS1):c.9266A>G (p.His3089Arg) rs376083621
NM_015120.4(ALMS1):c.9284C>T (p.Ser3095Leu) rs368970124
NM_015120.4(ALMS1):c.928_929insT (p.Gln310fs) rs1553400709
NM_015120.4(ALMS1):c.9324A>G (p.Val3108=) rs371108940
NM_015120.4(ALMS1):c.9362A>C (p.Lys3121Thr) rs375038066
NM_015120.4(ALMS1):c.9363A>G (p.Lys3121=) rs368408369
NM_015120.4(ALMS1):c.9389A>C (p.Gln3130Pro) rs372015288
NM_015120.4(ALMS1):c.9395C>T (p.Ser3132Phe) rs144588413
NM_015120.4(ALMS1):c.93_95del (p.Ala36del) rs973057702
NM_015120.4(ALMS1):c.9499G>A (p.Glu3167Lys) rs201208516
NM_015120.4(ALMS1):c.9539+13G>C rs369860432
NM_015120.4(ALMS1):c.9539+1G>T rs1553409901
NM_015120.4(ALMS1):c.9539+20C>T rs759559244
NM_015120.4(ALMS1):c.9540-15C>A rs780375594
NM_015120.4(ALMS1):c.9540-16del rs765235024
NM_015120.4(ALMS1):c.9540-7dup rs750386293
NM_015120.4(ALMS1):c.9541C>G (p.Arg3181Gly) rs563393715
NM_015120.4(ALMS1):c.9542+10A>G rs1553409904
NM_015120.4(ALMS1):c.9542G>A (p.Arg3181Gln) rs772197358
NM_015120.4(ALMS1):c.9550_9552del (p.Glu3184del) rs1553412739
NM_015120.4(ALMS1):c.956G>A (p.Gly319Glu) rs372886271
NM_015120.4(ALMS1):c.958A>G (p.Asn320Asp) rs376892136
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9613A>G (p.Ile3205Val) rs377600448
NM_015120.4(ALMS1):c.9672A>C (p.Glu3224Asp) rs376206840
NM_015120.4(ALMS1):c.9676C>T (p.Arg3226Cys) rs200215551
NM_015120.4(ALMS1):c.9677G>A (p.Arg3226His) rs765685958
NM_015120.4(ALMS1):c.9756A>G (p.Gln3252=) rs1553412793
NM_015120.4(ALMS1):c.9757_9758insCTC (p.Gln3253_Val3254insPro) rs766127195
NM_015120.4(ALMS1):c.9763_9764dup (p.Phe3256fs) rs1553412797
NM_015120.4(ALMS1):c.9781+11G>A rs970258030
NM_015120.4(ALMS1):c.9781+19A>C rs895296631
NM_015120.4(ALMS1):c.9781+5G>C rs1553412803
NM_015120.4(ALMS1):c.9782-11dup rs1553414055
NM_015120.4(ALMS1):c.9782-13T>G rs530508947
NM_015120.4(ALMS1):c.9782-18T>C rs995894081
NM_015120.4(ALMS1):c.9782-8C>T rs1553414061
NM_015120.4(ALMS1):c.9785-6C>T rs1414733616
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9806A>G (p.Tyr3269Cys) rs375515965
NM_015120.4(ALMS1):c.9818_9831del (p.Gly3273fs) rs1553414071
NM_015120.4(ALMS1):c.9831G>A (p.Met3277Ile) rs551840069
NM_015120.4(ALMS1):c.9833A>G (p.Tyr3278Cys) rs200826787
NM_015120.4(ALMS1):c.9869C>T (p.Pro3290Leu) rs369660958
NM_015120.4(ALMS1):c.9891C>T (p.Thr3297=) rs372451785
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823
NM_015120.4(ALMS1):c.9907+14A>G rs1402624178
NM_015120.4(ALMS1):c.9907+17A>C rs772675597
NM_015120.4(ALMS1):c.9907+17A>G rs772675597
NM_015120.4(ALMS1):c.9907+20C>A rs74730457
NM_015120.4(ALMS1):c.9907+5T>G rs1553414096
NM_015120.4(ALMS1):c.9908-13C>G rs373325114
NM_015120.4(ALMS1):c.9908-15C>G rs1389556610
NM_015120.4(ALMS1):c.9908-6C>G rs1553416191
NM_015120.4(ALMS1):c.9910+7T>G rs375870610
NM_015120.4(ALMS1):c.9911-13C>T rs373325114
NM_015120.4(ALMS1):c.991C>T (p.Leu331=) rs187880759
NM_015120.4(ALMS1):c.9935A>C (p.Asp3312Ala) rs1553416202
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904
NM_033056.4(PCDH15):c.1305+1G>A rs758947077
NM_033056.4(PCDH15):c.1305+1G>C rs758947077
NM_033056.4(PCDH15):c.1305+1del rs1554833699
NM_033056.4(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_033056.4(PCDH15):c.157+1G>C rs1057516770
NM_033056.4(PCDH15):c.157+59097T>C rs75443986
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.158-2A>T rs1304228309
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_033056.4(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_033056.4(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_033056.4(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_033056.4(PCDH15):c.1785-2A>C rs1057516474
NM_033056.4(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_033056.4(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_033056.4(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888
NM_033056.4(PCDH15):c.1917+2T>C rs1554806149
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.1997+1G>T rs763797356
NM_033056.4(PCDH15):c.1998-2A>G rs397517452
NM_033056.4(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_033056.4(PCDH15):c.2091+2T>C rs1554956023
NM_033056.4(PCDH15):c.2419dup (p.Ile807fs) rs781148814
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_033056.4(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_033056.4(PCDH15):c.2751+2T>C rs754543131
NM_033056.4(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342
NM_033056.4(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_033056.4(PCDH15):c.2869-1G>T rs1554883705
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_033056.4(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_033056.4(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_033056.4(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_033056.4(PCDH15):c.3122+2T>A rs1554882546
NM_033056.4(PCDH15):c.3123-1G>A rs1554873550
NM_033056.4(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_033056.4(PCDH15):c.3233-2A>G rs1554872194
NM_033056.4(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_033056.4(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_033056.4(PCDH15):c.3374-1G>T rs1554852472
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3501+1G>T rs1402893508
NM_033056.4(PCDH15):c.3502-2A>G rs1554836566
NM_033056.4(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_033056.4(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_033056.4(PCDH15):c.3717+1G>A rs748706627
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_033056.4(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_033056.4(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_033056.4(PCDH15):c.3806+1G>C rs1554833227
NM_033056.4(PCDH15):c.3806+2T>C rs756692340
NM_033056.4(PCDH15):c.3807-2A>G rs1328440878
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_033056.4(PCDH15):c.3983+1G>T rs758921360
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.3984-1G>C rs1057520709
NM_033056.4(PCDH15):c.3984-2A>G rs1554824185
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.400C>T (p.Arg134Ter) rs137853003
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_033056.4(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_033056.4(PCDH15):c.4211+1G>A rs1554823229
NM_033056.4(PCDH15):c.4211+1del rs1554823231
NM_033056.4(PCDH15):c.4211+2T>G rs753832779
NM_033056.4(PCDH15):c.4211+2dup rs1057517419
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_033056.4(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_033056.4(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4367+1G>A rs1057516613
NM_033056.4(PCDH15):c.4367+2T>C rs1554822703
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.594+1G>T rs1057516470
NM_033056.4(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_033056.4(PCDH15):c.705+1G>A rs1554903842
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_033056.4(PCDH15):c.92-515T>G rs1283842168
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_144612.6(LOXHD1):c.1028G>A (p.Arg343His) rs183531840
NM_144612.6(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.1571G>A (p.Arg524His) rs187658135
NM_144612.6(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147
NM_144612.6(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621
NM_144612.6(LOXHD1):c.1810-6C>A rs199804946
NM_144612.6(LOXHD1):c.1843C>A (p.Arg615=) rs112463030
NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_144612.6(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807
NM_144612.6(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744
NM_144612.6(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_144612.6(LOXHD1):c.2841C>T (p.Asp947=) rs761010290
NM_144612.6(LOXHD1):c.2T>A (p.Met1Lys) rs36024592
NM_144612.6(LOXHD1):c.3024C>T (p.Val1008=) rs370616818
NM_144612.6(LOXHD1):c.3162G>A (p.Thr1054=) rs727503144
NM_144612.6(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229
NM_144612.6(LOXHD1):c.3561G>A (p.Lys1187=) rs376334860
NM_144612.6(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927
NM_144612.6(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061
NM_144612.6(LOXHD1):c.4096-1G>C rs749861944
NM_144612.6(LOXHD1):c.4149G>A (p.Thr1383=) rs373657978
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144612.6(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576
NM_144612.6(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375
NM_144612.6(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149
NM_144612.6(LOXHD1):c.5127C>T (p.Gly1709=) rs373924055
NM_144612.6(LOXHD1):c.5201A>G (p.Lys1734Arg) rs370816148
NM_144612.6(LOXHD1):c.5214-3C>T rs528236655
NM_144612.6(LOXHD1):c.5272A>T (p.Thr1758Ser) rs775871086
NM_144612.6(LOXHD1):c.5398C>T (p.Arg1800Trp) rs201994383
NM_144612.6(LOXHD1):c.5864-15C>T rs397517864
NM_144612.6(LOXHD1):c.5885C>T (p.Thr1962Met) rs369043488
NM_144612.6(LOXHD1):c.6057T>C (p.Cys2019=) rs199645176
NM_144612.6(LOXHD1):c.611-15T>C rs146912450
NM_144612.6(LOXHD1):c.6192G>A (p.Lys2064=) rs876657498
NM_144612.6(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629
NM_153676.4(USH1C):c.104+1G>A rs1287021691
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1211-1175del rs1207247951
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1351AAAGAG[1] (p.451KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Ser473_Glu474insTer) rs781176348
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1806del (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1806dup (p.Ile603fs) rs765346539
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2227-1G>T rs778110397
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2281-2A>G rs921755529
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.248+1G>A rs1482487617
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.2547-1G>T rs571304936
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777
NM_153676.4(USH1C):c.496+1G>A rs138138689
NM_153676.4(USH1C):c.496+1G>T rs138138689
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.760-1G>T rs1187887456
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.877-1G>A rs771279169
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter) rs121908370
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_174878.3(CLRN1):c.13C>T (p.Gln5Ter) rs1057517224
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_174878.3(CLRN1):c.151_154del (p.Gly51fs) rs1553776061
NM_174878.3(CLRN1):c.184C>T (p.Gln62Ter) rs1553776052
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg) rs201008540
NM_174878.3(CLRN1):c.254-2057T>C rs778574679
NM_174878.3(CLRN1):c.254-2081G>A rs780023517
NM_174878.3(CLRN1):c.254-2082T>G rs963890618
NM_174878.3(CLRN1):c.254-2099_254-2086del rs1553772861
NM_174878.3(CLRN1):c.254-2111del rs1211060908
NM_174878.3(CLRN1):c.254-2115del rs1032160668
NM_174878.3(CLRN1):c.254-2132C>T rs758741442
NM_174878.3(CLRN1):c.254-2189dup rs1553772899
NM_174878.3(CLRN1):c.291C>T (p.Ile97=) rs1231233910
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_174878.3(CLRN1):c.336C>G (p.Thr112=) rs565400473
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432
NM_174878.3(CLRN1):c.372del (p.Phe124fs) rs1553772595
NM_174878.3(CLRN1):c.3G>A (p.Met1Ile) rs1553776132
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu) rs779258184
NM_174878.3(CLRN1):c.40G>T (p.Gly14Ter) rs1553776112
NM_174878.3(CLRN1):c.433+1061A>T rs567709615
NM_174878.3(CLRN1):c.433+1083ACCAGGC[3] rs768093614
NM_174878.3(CLRN1):c.433+1102G>T rs1553772414
NM_174878.3(CLRN1):c.433+2dup rs1057516687
NM_174878.3(CLRN1):c.456_458del (p.Met152del) rs1553770929
NM_174878.3(CLRN1):c.502dup (p.Ile168fs) rs746523071
NM_174878.3(CLRN1):c.541C>T (p.Gln181Ter) rs376155416
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter) rs373208120
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_174889.5(NDUFAF2):c.109C>T (p.Gln37Ter) rs1554076325
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) rs199754807
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) rs772489808
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726
NM_206933.2(USH2A):c.8179dup (p.Val2727Glyfs) rs774573692
NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs) rs1188025733
NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) rs758303489
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10151C>A (p.Ser3384Tyr) rs553202000
NM_206933.3(USH2A):c.10179del (p.Met3393fs) rs1553262411
NM_206933.3(USH2A):c.10317_10318delinsT (p.Ile3440fs) rs1553261898
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10388-1G>A rs1553261478
NM_206933.3(USH2A):c.10388-2A>G rs1553261479
NM_206933.3(USH2A):c.1040A>G (p.Asp347Gly) rs762384558
NM_206933.3(USH2A):c.10421A>G (p.Tyr3474Cys) rs749121941
NM_206933.3(USH2A):c.10465G>A (p.Ala3489Thr) rs1553261464
NM_206933.3(USH2A):c.10525A>T (p.Lys3509Ter) rs944675223
NM_206933.3(USH2A):c.10559A>G (p.Asn3520Ser) rs777043718
NM_206933.3(USH2A):c.10586-2A>G rs370327669
NM_206933.3(USH2A):c.10596_10597insAT (p.Tyr3533fs) rs1553261387
NM_206933.3(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706
NM_206933.3(USH2A):c.10636G>A (p.Gly3546Arg) rs1553261372
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10842_10845del (p.Glu3614fs) rs1553261118
NM_206933.3(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal) rs1553259182
NM_206933.3(USH2A):c.11100_11104del (p.Tyr3701fs) rs1553259179
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11231+1G>A rs111033382
NM_206933.3(USH2A):c.11290dup (p.Ile3764fs) rs1553259060
NM_206933.3(USH2A):c.11328T>A (p.Tyr3776Ter) rs749726310
NM_206933.3(USH2A):c.11389+1del rs1414935620
NM_206933.3(USH2A):c.11390-2del rs760100733
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.1142A>G (p.Gln381Arg) rs1553250774
NM_206933.3(USH2A):c.11431_11434del (p.Leu3811fs) rs1553257705
NM_206933.3(USH2A):c.11434_11436del (p.Asn3812del) rs1553257704
NM_206933.3(USH2A):c.11534A>C (p.Gln3845Pro) rs1553257674
NM_206933.3(USH2A):c.11549-1G>A rs878853407
NM_206933.3(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.3(USH2A):c.11703del (p.Phe3901fs) rs1553257497
NM_206933.3(USH2A):c.11712-2A>C rs753505333
NM_206933.3(USH2A):c.11712-2A>G rs753505333
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.11734dup (p.Glu3912fs) rs1553256587
NM_206933.3(USH2A):c.11815dup (p.Glu3939fs) rs1553256576
NM_206933.3(USH2A):c.11831C>A (p.Ala3944Asp) rs1431048303
NM_206933.3(USH2A):c.12139_12147del (p.Asn4047_Ala4049del) rs1553252931
NM_206933.3(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.1246G>T (p.Ala416Ser) rs187897763
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.3(USH2A):c.12737_12738delinsGG (p.Ala4246Gly) rs1553252489
NM_206933.3(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578
NM_206933.3(USH2A):c.12806C>G (p.Pro4269Arg) rs1553252475
NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.3(USH2A):c.12859_12863del (p.Pro4287fs) rs1553252469
NM_206933.3(USH2A):c.13094G>A (p.Trp4365Ter) rs1163061829
NM_206933.3(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13337delinsGTC (p.Asn4446fs) rs1553252389
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.1340A>G (p.Tyr447Cys) rs1553250638
NM_206933.3(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406
NM_206933.3(USH2A):c.13556del (p.Ile4518_Leu4519insTer) rs1553252363
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448
NM_206933.3(USH2A):c.13665_13667dup (p.Val4556dup) rs1553252347
NM_206933.3(USH2A):c.13700del (p.Leu4567fs) rs1212608410
NM_206933.3(USH2A):c.13776G>C (p.Gln4592His) rs1350039852
NM_206933.3(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13811+2T>C rs766515318
NM_206933.3(USH2A):c.13812-1G>A rs199782530
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1397G>T (p.Gly466Val) rs1553250627
NM_206933.3(USH2A):c.13985del (p.Gln4662fs) rs1553252041
NM_206933.3(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329
NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.3(USH2A):c.14139_14152del (p.Trp4713fs) rs1553250416
NM_206933.3(USH2A):c.14204C>G (p.Pro4735Arg) rs1333608275
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14344-1G>A rs919142559
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14402_14403del (p.Tyr4801fs) rs1553250192
NM_206933.3(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527
NM_206933.3(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14679del (p.Ala4894fs) rs1553250077
NM_206933.3(USH2A):c.14791+2T>A rs1553250050
NM_206933.3(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789
NM_206933.3(USH2A):c.14894_14915del (p.Val4965fs) rs1553249452
NM_206933.3(USH2A):c.14914C>T (p.Arg4972Cys) rs766759858
NM_206933.3(USH2A):c.14965_14968dup (p.Thr4990fs) rs781625683
NM_206933.3(USH2A):c.14969-1G>A rs1553249311
NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.3(USH2A):c.14995A>G (p.Thr4999Ala) rs1553249303
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15037_15043del (p.Thr5013fs) rs1553249294
NM_206933.3(USH2A):c.15052+1G>A rs1553249290
NM_206933.3(USH2A):c.15115_15117del (p.Ser5039del) rs1553248836
NM_206933.3(USH2A):c.15147_15160del (p.Met5049fs) rs1553248832
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15298-18_15301dup rs1553248238
NM_206933.3(USH2A):c.15322del (p.Arg5108fs) rs1553248234
NM_206933.3(USH2A):c.15331_15333del (p.Thr5111del) rs766970587
NM_206933.3(USH2A):c.15380del (p.Pro5127fs) rs1553248216
NM_206933.3(USH2A):c.15412C>T (p.Gln5138Ter) rs763463859
NM_206933.3(USH2A):c.1541T>C (p.Ile514Thr) rs768813865
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.15577G>T (p.Glu5193Ter) rs1365989569
NM_206933.3(USH2A):c.15577del (p.Glu5193fs) rs1553313073
NM_206933.3(USH2A):c.1678C>G (p.Pro560Ala) rs147509797
NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1859G>T (p.Cys620Phe) rs758571672
NM_206933.3(USH2A):c.187C>T (p.Arg63Ter) rs781223647
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.1A>G (p.Met1Val) rs924627806
NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.3(USH2A):c.206G>T (p.Ser69Ile) rs377254440
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-1G>C rs748961218
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.232T>G (p.Phe78Val) rs775094277
NM_206933.3(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter) rs767078782
NM_206933.3(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2776C>T (p.Arg926Cys) rs749621457
NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087
NM_206933.3(USH2A):c.2994-2A>G rs1553316430
NM_206933.3(USH2A):c.2994A>T (p.Arg998Ser) rs1553316429
NM_206933.3(USH2A):c.3086G>T (p.Gly1029Val) rs768158580
NM_206933.3(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3317-1G>A rs1553313909
NM_206933.3(USH2A):c.3507G>A (p.Trp1169Ter) rs1064793745
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.3724C>T (p.Pro1242Ser) rs755849364
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4070C>T (p.Thr1357Met) rs201190539
NM_206933.3(USH2A):c.4081+2T>C rs1553313505
NM_206933.3(USH2A):c.4082-2A>G rs1553313340
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.419C>A (p.Pro140His) rs759474177
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.43C>T (p.Gln15Ter) rs1553258122
NM_206933.3(USH2A):c.449T>A (p.Leu150Ter) rs1553258037
NM_206933.3(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4679C>A (p.Ala1560Glu) rs1388648004
NM_206933.3(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651
NM_206933.3(USH2A):c.4818dup (p.Trp1607fs) rs1553300558
NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.4886-1G>A rs1553300340
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.4988-2A>G rs143521854
NM_206933.3(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984
NM_206933.3(USH2A):c.5051C>T (p.Pro1684Leu) rs771088957
NM_206933.3(USH2A):c.5083del (p.Ser1695fs) rs1553300016
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785
NM_206933.3(USH2A):c.5278del (p.Asp1760fs) rs754374132
NM_206933.3(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451
NM_206933.3(USH2A):c.538T>C (p.Ser180Pro) rs1171672823
NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079
NM_206933.3(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414
NM_206933.3(USH2A):c.5454_5455insAGAAATGGA (p.Leu1819_Met1820insArgAsnGly) rs1553299065
NM_206933.3(USH2A):c.5499_5511del (p.Asn1834fs) rs1553299046
NM_206933.3(USH2A):c.5561_5572+7dup rs1553299014
NM_206933.3(USH2A):c.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376