ClinVar Miner

List of variants studied for perceptual disorders by Institute of Rare Diseases, West China Hospital, Sichuan University

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 771
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00004
NM_194323.3(OTOF):c.3674A>G (p.Lys1225Arg) rs750669994 0.00003
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu) rs556959034 0.00002
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr) rs374967010 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000441.2(SLC26A4):c.765+5G>A rs947864801 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001256317.3(TMPRSS3):c.1197C>G (p.Asp399Glu) rs397517371 0.00001
NM_004086.3(COCH):c.263G>T (p.Gly88Val) rs121908928 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.5597T>C (p.Leu1866Pro) rs1240823956 0.00001
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) rs727503311 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_000260.4(MYO7A):c.1107C>A (p.Cys369Ter)
NM_000260.4(MYO7A):c.1117C>G (p.Arg373Gly)
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu) rs201491278
NM_000260.4(MYO7A):c.1165G>T (p.Glu389Ter)
NM_000260.4(MYO7A):c.1201-2A>C
NM_000260.4(MYO7A):c.1324G>A (p.Glu442Lys) rs267603200
NM_000260.4(MYO7A):c.1344-1G>C
NM_000260.4(MYO7A):c.1372A>G (p.Asn458Asp)
NM_000260.4(MYO7A):c.1534dup (p.Glu512fs)
NM_000260.4(MYO7A):c.1538A>T (p.Glu513Val)
NM_000260.4(MYO7A):c.1554+1G>A
NM_000260.4(MYO7A):c.1554+2T>G
NM_000260.4(MYO7A):c.1555G>C (p.Gly519Arg)
NM_000260.4(MYO7A):c.1649del (p.Gly550fs)
NM_000260.4(MYO7A):c.1798-1G>C
NM_000260.4(MYO7A):c.2188-2_2196del
NM_000260.4(MYO7A):c.2209G>T (p.Glu737Ter)
NM_000260.4(MYO7A):c.2219_2228del (p.Arg740fs)
NM_000260.4(MYO7A):c.2283-2A>T
NM_000260.4(MYO7A):c.2287_2290del (p.Asn763fs)
NM_000260.4(MYO7A):c.2464del (p.Ala822fs)
NM_000260.4(MYO7A):c.2532_2548del (p.Gln844fs)
NM_000260.4(MYO7A):c.287C>A (p.Thr96Lys)
NM_000260.4(MYO7A):c.2884C>T (p.Gln962Ter)
NM_000260.4(MYO7A):c.3050dup (p.Tyr1017Ter)
NM_000260.4(MYO7A):c.3224_3225del (p.Ile1074_Tyr1075insTer)
NM_000260.4(MYO7A):c.3346_3347del (p.Leu1116fs)
NM_000260.4(MYO7A):c.3546C>G (p.Asn1182Lys)
NM_000260.4(MYO7A):c.3656dup (p.Pro1221fs)
NM_000260.4(MYO7A):c.3728C>A (p.Pro1243Gln)
NM_000260.4(MYO7A):c.4087G>A (p.Ala1363Thr)
NM_000260.4(MYO7A):c.4112T>A (p.Val1371Glu)
NM_000260.4(MYO7A):c.4134_4135dup (p.Glu1379fs)
NM_000260.4(MYO7A):c.4403T>A (p.Leu1468Ter)
NM_000260.4(MYO7A):c.4517del (p.Gln1506fs)
NM_000260.4(MYO7A):c.5187_5188del (p.Leu1730fs)
NM_000260.4(MYO7A):c.523del (p.Leu175fs)
NM_000260.4(MYO7A):c.5258dup (p.Gln1754fs)
NM_000260.4(MYO7A):c.5515_5516del (p.Leu1839fs)
NM_000260.4(MYO7A):c.5618G>T (p.Arg1873Leu)
NM_000260.4(MYO7A):c.5626A>T (p.Lys1876Ter)
NM_000260.4(MYO7A):c.5659C>A (p.Pro1887Thr)
NM_000260.4(MYO7A):c.5819C>T (p.Ser1940Leu)
NM_000260.4(MYO7A):c.5856+2_5856+4del
NM_000260.4(MYO7A):c.592+2T>A
NM_000260.4(MYO7A):c.592+2T>C
NM_000260.4(MYO7A):c.6113G>A (p.Gly2038Glu)
NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)
NM_000260.4(MYO7A):c.6559-2A>G
NM_000260.4(MYO7A):c.674del (p.Gly225fs)
NM_000260.4(MYO7A):c.754_757dup (p.His253fs)
NM_000260.4(MYO7A):c.765C>A (p.Phe255Leu)
NM_000260.4(MYO7A):c.76del (p.Ala26fs)
NM_000260.4(MYO7A):c.788del (p.Ser263fs)
NM_000260.4(MYO7A):c.832del (p.Tyr278fs)
NM_000260.4(MYO7A):c.834C>G (p.Tyr278Ter)
NM_000260.4(MYO7A):c.849_850insA (p.Gly284fs)
NM_000260.4(MYO7A):c.850-2A>T
NM_000260.4(MYO7A):c.972del (p.Ile325fs)
NM_000260.4(MYO7A):c.982del (p.Leu328fs)
NM_000307.5(POU3F4):c.101del (p.Pro34fs)
NM_000307.5(POU3F4):c.1075del (p.His359fs)
NM_000307.5(POU3F4):c.1085G>C (p.Ter362Ser)
NM_000307.5(POU3F4):c.126C>G (p.Tyr42Ter)
NM_000307.5(POU3F4):c.207del (p.Thr70fs)
NM_000307.5(POU3F4):c.226del (p.Leu76fs)
NM_000307.5(POU3F4):c.226dup (p.Leu76fs)
NM_000307.5(POU3F4):c.231_244del (p.Asp77fs)
NM_000307.5(POU3F4):c.310del (p.His104fs)
NM_000307.5(POU3F4):c.340del (p.Trp114fs)
NM_000307.5(POU3F4):c.342G>A (p.Trp114Ter)
NM_000307.5(POU3F4):c.346G>T (p.Ala116Ser)
NM_000307.5(POU3F4):c.366_367del (p.Ser123fs)
NM_000307.5(POU3F4):c.369_370insCACCGA (p.Ser123_Ile124insHisArg)
NM_000307.5(POU3F4):c.375del (p.Ser126fs)
NM_000307.5(POU3F4):c.403_404dup (p.Gln136fs)
NM_000307.5(POU3F4):c.437_440del (p.Glu146fs)
NM_000307.5(POU3F4):c.441C>G (p.His147Gln)
NM_000307.5(POU3F4):c.446del (p.Gly149fs)
NM_000307.5(POU3F4):c.509dup (p.Asp171fs)
NM_000307.5(POU3F4):c.577G>T (p.Glu193Ter)
NM_000307.5(POU3F4):c.608_610del (p.Gln203del)
NM_000307.5(POU3F4):c.679_680insGA (p.Phe227Ter)
NM_000307.5(POU3F4):c.67_127del (p.Ala23fs)
NM_000307.5(POU3F4):c.680T>C (p.Phe227Ser)
NM_000307.5(POU3F4):c.683C>A (p.Ser228Ter)
NM_000307.5(POU3F4):c.683del (p.Ser228fs)
NM_000307.5(POU3F4):c.700A>G (p.Arg234Gly)
NM_000307.5(POU3F4):c.700A>T (p.Arg234Trp)
NM_000307.5(POU3F4):c.709del (p.Ala237fs)
NM_000307.5(POU3F4):c.712_715del (p.Leu238fs)
NM_000307.5(POU3F4):c.763T>C (p.Trp255Arg)
NM_000307.5(POU3F4):c.823_824del (p.Gln275fs)
NM_000307.5(POU3F4):c.839dup (p.Lys281fs)
NM_000307.5(POU3F4):c.844C>T (p.Arg282Trp)
NM_000307.5(POU3F4):c.856G>T (p.Glu286Ter)
NM_000307.5(POU3F4):c.859_863del (p.Val287fs)
NM_000307.5(POU3F4):c.877del (p.Leu293fs)
NM_000307.5(POU3F4):c.893_894del (p.Leu298fs)
NM_000307.5(POU3F4):c.909dup (p.Ala304fs)
NM_000307.5(POU3F4):c.922_925dup (p.Ser309fs)
NM_000307.5(POU3F4):c.932T>A (p.Leu311Gln)
NM_000307.5(POU3F4):c.935del (p.Ala312fs)
NM_000307.5(POU3F4):c.962T>A (p.Val321Glu)
NM_000307.5(POU3F4):c.976T>A (p.Phe326Ile)
NM_000307.5(POU3F4):c.991C>T (p.Gln331Ter)
NM_000441.2(SLC26A4):c.-3-2A>T
NM_000441.2(SLC26A4):c.1001+3G>C
NM_000441.2(SLC26A4):c.100C>T (p.Gln34Ter)
NM_000441.2(SLC26A4):c.1097C>G (p.Ser366Ter)
NM_000441.2(SLC26A4):c.1102G>C (p.Gly368Arg)
NM_000441.2(SLC26A4):c.1103del (p.Gly368fs)
NM_000441.2(SLC26A4):c.1141G>A (p.Gly381Arg)
NM_000441.2(SLC26A4):c.1149+1G>T
NM_000441.2(SLC26A4):c.1207G>T (p.Ala403Ser)
NM_000441.2(SLC26A4):c.1208C>T (p.Ala403Val)
NM_000441.2(SLC26A4):c.1228A>C (p.Thr410Pro)
NM_000441.2(SLC26A4):c.1231del (p.Ala411fs)
NM_000441.2(SLC26A4):c.1241_1242insAG (p.Ser415fs)
NM_000441.2(SLC26A4):c.1244_1245del (p.Ser415fs)
NM_000441.2(SLC26A4):c.1264-1G>T
NM_000441.2(SLC26A4):c.1279T>C (p.Ser427Pro)
NM_000441.2(SLC26A4):c.1288del (p.Ile430fs)
NM_000441.2(SLC26A4):c.1291del (p.Ile430_Val431insTer)
NM_000441.2(SLC26A4):c.1335G>C (p.Leu445Phe)
NM_000441.2(SLC26A4):c.1341+2T>C
NM_000441.2(SLC26A4):c.1352C>A (p.Ala451Glu)
NM_000441.2(SLC26A4):c.1395dup (p.Cys466fs)
NM_000441.2(SLC26A4):c.1437+5G>A
NM_000441.2(SLC26A4):c.1544delT (p.Pro516fs)
NM_000441.2(SLC26A4):c.1546C>G (p.Pro516Ala)
NM_000441.2(SLC26A4):c.1552T>C (p.Trp518Arg)
NM_000441.2(SLC26A4):c.1591A>C (p.Lys531Gln)
NM_000441.2(SLC26A4):c.1594del (p.Ser532fs)
NM_000441.2(SLC26A4):c.1606T>A (p.Tyr536Asn)
NM_000441.2(SLC26A4):c.1645A>G (p.Arg549Gly)
NM_000441.2(SLC26A4):c.1703_1707+6del
NM_000441.2(SLC26A4):c.1708-2A>G
NM_000441.2(SLC26A4):c.175A>T (p.Lys59Ter)
NM_000441.2(SLC26A4):c.1817del (p.Ser606fs)
NM_000441.2(SLC26A4):c.1835_1838del (p.Asn612fs)
NM_000441.2(SLC26A4):c.1979T>A (p.Leu660His)
NM_000441.2(SLC26A4):c.1984T>C (p.Cys662Arg)
NM_000441.2(SLC26A4):c.2035-1G>T
NM_000441.2(SLC26A4):c.2035-8_2035-2del
NM_000441.2(SLC26A4):c.2116T>C (p.Cys706Arg)
NM_000441.2(SLC26A4):c.2128G>T (p.Asp710Tyr)
NM_000441.2(SLC26A4):c.2147A>T (p.Asp716Val)
NM_000441.2(SLC26A4):c.215T>A (p.Leu72Ter)
NM_000441.2(SLC26A4):c.2205_2206del (p.Gln736fs)
NM_000441.2(SLC26A4):c.2219dup (p.Ser741fs)
NM_000441.2(SLC26A4):c.2233del (p.Thr745fs)
NM_000441.2(SLC26A4):c.2235+2T>A
NM_000441.2(SLC26A4):c.234C>G (p.Tyr78Ter)
NM_000441.2(SLC26A4):c.305G>A (p.Gly102Glu)
NM_000441.2(SLC26A4):c.325G>C (p.Ala109Pro)
NM_000441.2(SLC26A4):c.327del (p.Ala110fs)
NM_000441.2(SLC26A4):c.392G>C (p.Gly131Ala)
NM_000441.2(SLC26A4):c.404A>C (p.His135Pro)
NM_000441.2(SLC26A4):c.42dup (p.Glu15fs)
NM_000441.2(SLC26A4):c.477del (p.Glu159fs)
NM_000441.2(SLC26A4):c.502G>T (p.Gly168Ter)
NM_000441.2(SLC26A4):c.512T>G (p.Leu171Ter)
NM_000441.2(SLC26A4):c.642C>A (p.Tyr214Ter)
NM_000441.2(SLC26A4):c.750del (p.Leu251fs)
NM_000441.2(SLC26A4):c.765+4A>G
NM_000441.2(SLC26A4):c.788_814dup (p.Asp271_Phe272insTyrIleGlyAspThrAsnLeuAlaAsp)
NM_000441.2(SLC26A4):c.798_799insTTCAATC (p.Thr267fs)
NM_000441.2(SLC26A4):c.79T>G (p.Tyr27Asp)
NM_000441.2(SLC26A4):c.811G>T (p.Asp271Tyr)
NM_000441.2(SLC26A4):c.844T>C (p.Cys282Arg)
NM_000441.2(SLC26A4):c.85G>A (p.Glu29Lys)
NM_000441.2(SLC26A4):c.917_918dup (p.Thr307Ter)
NM_000441.2(SLC26A4):c.918+1dup
NM_000441.2(SLC26A4):c.918+5G>A
NM_000441.2(SLC26A4):c.965del (p.Asn322fs)
NM_000441.2(SLC26A4):c.969C>A (p.Tyr323Ter)
NM_000441.2(SLC26A4):c.976_977del (p.Gly326fs)
NM_000441.2(SLC26A4):c.983T>A (p.Val328Asp)
NM_001031679.3(MSRB3):c.292G>T (p.Gly98Cys)
NM_001031679.3(MSRB3):c.449dup (p.Tyr150Ter)
NM_001038603.3(MARVELD2):c.1123dup (p.Arg375fs)
NM_001038603.3(MARVELD2):c.1295del (p.His432fs)
NM_001038603.3(MARVELD2):c.1332-1del
NM_001038603.3(MARVELD2):c.1363C>T (p.Arg455Ter)
NM_001038603.3(MARVELD2):c.1374T>A (p.Tyr458Ter)
NM_001038603.3(MARVELD2):c.1399del (p.Ser467fs)
NM_001038603.3(MARVELD2):c.1467del (p.Val489_Met490insTer)
NM_001038603.3(MARVELD2):c.1512_1515del (p.Arg505fs)
NM_001038603.3(MARVELD2):c.1578del (p.Glu527fs)
NM_001038603.3(MARVELD2):c.670_694del (p.Leu224fs)
NM_001038603.3(MARVELD2):c.683C>G (p.Ser228Ter)
NM_001038603.3(MARVELD2):c.719del (p.Gly240fs)
NM_001038603.3(MARVELD2):c.802ATT[2] (p.Ile270del)
NM_001039141.3(TRIOBP):c.1006C>T (p.Gln336Ter)
NM_001039141.3(TRIOBP):c.1101_1105del (p.Phe368fs)
NM_001039141.3(TRIOBP):c.1104del (p.Pro369fs)
NM_001039141.3(TRIOBP):c.1150C>T (p.Gln384Ter)
NM_001039141.3(TRIOBP):c.1489C>T (p.Arg497Ter)
NM_001039141.3(TRIOBP):c.2147_2148dup (p.Gln717fs)
NM_001039141.3(TRIOBP):c.2220del (p.Gln740fs)
NM_001039141.3(TRIOBP):c.2666G>A (p.Trp889Ter)
NM_001039141.3(TRIOBP):c.2986dup (p.Tyr996fs)
NM_001039141.3(TRIOBP):c.3011del (p.Leu1004fs)
NM_001039141.3(TRIOBP):c.3100C>T (p.Gln1034Ter)
NM_001039141.3(TRIOBP):c.4745G>A (p.Trp1582Ter)
NM_001039141.3(TRIOBP):c.6040dup (p.Leu2014fs)
NM_001042702.5(PJVK):c.1017T>G (p.His339Gln)
NM_001042702.5(PJVK):c.199_200del (p.Glu67fs)
NM_001042702.5(PJVK):c.226C>T (p.Gln76Ter)
NM_001042702.5(PJVK):c.408-2A>G
NM_001042702.5(PJVK):c.772del (p.Arg258fs)
NM_001046.3(SLC12A2):c.1881+2T>C
NM_001046.3(SLC12A2):c.2959C>T (p.Gln987Ter)
NM_001046.3(SLC12A2):c.2977+1G>A
NM_001080476.3(GRXCR1):c.181C>T (p.Gln61Ter)
NM_001080476.3(GRXCR1):c.672del (p.Asp225fs)
NM_001080516.2(GRXCR2):c.247C>T (p.Gln83Ter)
NM_001128228.3(TPRN):c.650del (p.Gly217fs)
NM_001142966.3(GREB1L):c.1144G>T (p.Glu382Ter)
NM_001142966.3(GREB1L):c.1323del (p.Gly441_Leu442insTer)
NM_001142966.3(GREB1L):c.1498_1499del (p.Val500fs)
NM_001142966.3(GREB1L):c.1987_1992del
NM_001142966.3(GREB1L):c.2556+1G>A
NM_001142966.3(GREB1L):c.5278G>T (p.Glu1760Ter)
NM_001142966.3(GREB1L):c.5562dup (p.Asp1855Ter)
NM_001142966.3(GREB1L):c.5761_5762insAT (p.Arg1921fs)
NM_001142966.3(GREB1L):c.768del (p.Ser257fs)
NM_001145026.2(PTPRQ):c.1264C>T (p.Gln422Ter)
NM_001145026.2(PTPRQ):c.4869T>A (p.Tyr1623Ter)
NM_001145026.2(PTPRQ):c.5239C>T (p.Arg1747Ter)
NM_001145026.2(PTPRQ):c.5943-2A>T
NM_001145026.2(PTPRQ):c.6211G>T (p.Glu2071Ter)
NM_001145026.2(PTPRQ):c.6454-2A>G
NM_001145308.5(LRTOMT):c.242G>C (p.Arg81Pro)
NM_001145308.5(LRTOMT):c.307del (p.Asp103fs)
NM_001145308.5(LRTOMT):c.314G>A (p.Trp105Ter)
NM_001145308.5(LRTOMT):c.315G>A (p.Trp105Ter)
NM_001145308.5(LRTOMT):c.347G>A (p.Gly116Glu)
NM_001145308.5(LRTOMT):c.426T>A (p.Cys142Ter)
NM_001145308.5(LRTOMT):c.476T>G (p.Leu159Arg)
NM_001145308.5(LRTOMT):c.555+2T>G
NM_001145308.5(LRTOMT):c.641T>C (p.Leu214Pro)
NM_001145308.5(LRTOMT):c.849del (p.Gln284fs)
NM_001146079.2(CLDN14):c.167_168del (p.Trp56fs)
NM_001146079.2(CLDN14):c.285C>A (p.Cys95Ter)
NM_001146079.2(CLDN14):c.355_361del (p.Ile119fs)
NM_001146079.2(CLDN14):c.554_556del (p.Cys185_Gln186delinsTer)
NM_001195263.2(PDZD7):c.2136del (p.Ile714fs)
NM_001195263.2(PDZD7):c.2368_2377del (p.Lys790fs)
NM_001199107.2(TBC1D24):c.1207-1G>C
NM_001199107.2(TBC1D24):c.1505del (p.Gly502fs)
NM_001199107.2(TBC1D24):c.1526G>C (p.Gly509Ala)
NM_001199107.2(TBC1D24):c.76G>T (p.Glu26Ter)
NM_001199799.2(ILDR1):c.102_105del (p.Arg33_Tyr34insTer)
NM_001199799.2(ILDR1):c.1141C>T (p.Gln381Ter)
NM_001199799.2(ILDR1):c.247del (p.Ser83fs)
NM_001199799.2(ILDR1):c.28del (p.Trp10fs)
NM_001199799.2(ILDR1):c.353_357dup (p.Arg120fs)
NM_001199799.2(ILDR1):c.98_99insAA (p.Tyr34fs)
NM_001256317.3(TMPRSS3):c.1195G>A (p.Asp399Asn)
NM_001256317.3(TMPRSS3):c.1196A>T (p.Asp399Val)
NM_001256317.3(TMPRSS3):c.1206dup (p.Pro403fs)
NM_001256317.3(TMPRSS3):c.1272C>A (p.Cys424Ter)
NM_001256317.3(TMPRSS3):c.1345-2A>G
NM_001256317.3(TMPRSS3):c.205+5G>C
NM_001256317.3(TMPRSS3):c.311A>G (p.Glu104Gly)
NM_001256317.3(TMPRSS3):c.38dup (p.Ser14fs)
NM_001256317.3(TMPRSS3):c.425G>C (p.Cys142Ser)
NM_001256317.3(TMPRSS3):c.572+2T>C
NM_001256317.3(TMPRSS3):c.572G>A (p.Arg191Lys)
NM_001292063.2(OTOG):c.8614C>T (p.Arg2872Ter)
NM_001371333.1(DIABLO):c.381GGA[1] (p.Glu129del)
NM_001378609.3(OTOGL):c.168+1G>A
NM_001378609.3(OTOGL):c.3017C>G (p.Ser1006Ter)
NM_001378609.3(OTOGL):c.4896_4897del (p.Ser1633fs)
NM_001378609.3(OTOGL):c.6436G>T (p.Glu2146Ter)
NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)
NM_001379180.1(ESRRB):c.518G>A (p.Arg173His)
NM_001379180.1(ESRRB):c.834G>C (p.Trp278Cys)
NM_001379180.1(ESRRB):c.938C>T (p.Ser313Leu)
NM_001384140.1(PCDH15):c.1096A>T (p.Lys366Ter)
NM_001384140.1(PCDH15):c.1150G>T (p.Glu384Ter)
NM_001384140.1(PCDH15):c.1166del (p.Asn389fs)
NM_001384140.1(PCDH15):c.1182T>G (p.Tyr394Ter)
NM_001384140.1(PCDH15):c.1306-1G>A
NM_001384140.1(PCDH15):c.1366C>T (p.Gln456Ter)
NM_001384140.1(PCDH15):c.1386C>A (p.Tyr462Ter)
NM_001384140.1(PCDH15):c.1642del (p.Ile548fs)
NM_001384140.1(PCDH15):c.1686_1687insTAAGCGA (p.Gly563Ter)
NM_001384140.1(PCDH15):c.1725del (p.Arg577fs)
NM_001384140.1(PCDH15):c.1866_1867dup (p.Leu623fs)
NM_001384140.1(PCDH15):c.1869_1870del (p.Glu624fs)
NM_001384140.1(PCDH15):c.213dup (p.Thr72fs)
NM_001384140.1(PCDH15):c.2542del (p.Gly849fs)
NM_001384140.1(PCDH15):c.298G>T (p.Gly100Ter)
NM_001384140.1(PCDH15):c.3413del (p.Asn1138fs)
NM_001384140.1(PCDH15):c.3931del (p.Tyr1311fs)
NM_001384140.1(PCDH15):c.3946dup (p.Gln1316fs)
NM_001384140.1(PCDH15):c.4671+1164_4671+1167dup
NM_001384140.1(PCDH15):c.4671+1218dup
NM_001384140.1(PCDH15):c.4671+1256del rs1404094905
NM_001384140.1(PCDH15):c.4671+1307G>T
NM_001384140.1(PCDH15):c.4671+1384dup
NM_001384140.1(PCDH15):c.4671+1386_4671+1387dup
NM_001384140.1(PCDH15):c.4671+1429_4671+1432dup
NM_001384140.1(PCDH15):c.4671+1452_4671+1453del
NM_001384140.1(PCDH15):c.4671+1463_4671+1466dup
NM_001384140.1(PCDH15):c.4671+1540AG[3]
NM_001384140.1(PCDH15):c.595-1G>A
NM_001384140.1(PCDH15):c.684C>G (p.Tyr228Ter)
NM_001384474.1(LOXHD1):c.106del (p.Glu36fs)
NM_001384474.1(LOXHD1):c.1072dup (p.Leu358fs)
NM_001384474.1(LOXHD1):c.130+1G>A
NM_001384474.1(LOXHD1):c.1693G>T (p.Glu565Ter)
NM_001384474.1(LOXHD1):c.2377C>T (p.Gln793Ter)
NM_001384474.1(LOXHD1):c.3682del (p.Ile1228fs)
NM_001384474.1(LOXHD1):c.3833G>A (p.Trp1278Ter)
NM_001384474.1(LOXHD1):c.4595_4605del (p.Asp1532fs)
NM_001384474.1(LOXHD1):c.4909A>T (p.Lys1637Ter)
NM_001384474.1(LOXHD1):c.5655del (p.Ser1886fs)
NM_001384474.1(LOXHD1):c.5864G>A (p.Trp1955Ter)
NM_001384474.1(LOXHD1):c.5895G>A (p.Trp1965Ter)
NM_001384474.1(LOXHD1):c.6050-2A>C
NM_001384474.1(LOXHD1):c.6071C>A (p.Thr2024Lys)
NM_001384474.1(LOXHD1):c.6221T>A (p.Leu2074Ter)
NM_001384474.1(LOXHD1):c.674T>C (p.Leu225Pro)
NM_001384474.1(LOXHD1):c.86_90dup (p.Asp31fs)
NM_001614.5(ACTG1):c.494T>A (p.Ile165Asn)
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr) rs2143778877
NM_002700.3(POU4F3):c.130_136del (p.Asn44fs)
NM_002700.3(POU4F3):c.296_297dup (p.Pro100fs)
NM_002700.3(POU4F3):c.371C>A (p.Ser124Ter)
NM_002700.3(POU4F3):c.413C>A (p.Ser138Ter)
NM_002700.3(POU4F3):c.592C>A (p.Arg198Ser)
NM_002700.3(POU4F3):c.592C>G (p.Arg198Gly)
NM_002700.3(POU4F3):c.608_610dup (p.Val203_Thr204insMet)
NM_002700.3(POU4F3):c.631G>C (p.Ala211Pro)
NM_002700.3(POU4F3):c.671G>A (p.Ser224Asn)
NM_002700.3(POU4F3):c.976A>G (p.Arg326Gly)
NM_002700.3(POU4F3):c.97C>T (p.Arg33Ter)
NM_002764.4(PRPS1):c.826C>G (p.Pro276Ala)
NM_002764.4(PRPS1):c.838A>G (p.Lys280Glu)
NM_004004.6(GJB2):c.108del (p.Val37fs)
NM_004004.6(GJB2):c.161del (p.Asn54fs)
NM_004004.6(GJB2):c.236T>A (p.Leu79Gln)
NM_004004.6(GJB2):c.388G>C (p.Gly130Arg)
NM_004004.6(GJB2):c.420C>G (p.Ile140Met)
NM_004004.6(GJB2):c.468_472del (p.Met157fs)
NM_004004.6(GJB2):c.610del (p.Leu204fs)
NM_004004.6(GJB2):c.626A>C (p.Glu209Ala)
NM_004004.6(GJB2):c.72G>C (p.Trp24Cys)
NM_004004.6(GJB2):c.8G>A (p.Trp3Ter)
NM_004086.3(COCH):c.1412T>G (p.Val471Gly)
NM_004086.3(COCH):c.152C>A (p.Pro51Gln)
NM_004086.3(COCH):c.1547C>A (p.Pro516Gln)
NM_004086.3(COCH):c.1547C>G (p.Pro516Arg)
NM_004086.3(COCH):c.340C>G (p.Leu114Val)
NM_004100.5(EYA4):c.1173T>A (p.Tyr391Ter)
NM_004100.5(EYA4):c.1173T>G (p.Tyr391Ter)
NM_004100.5(EYA4):c.1200dup (p.Met401fs)
NM_004100.5(EYA4):c.1486A>T (p.Lys496Ter)
NM_004100.5(EYA4):c.1519A>T (p.Lys507Ter)
NM_004100.5(EYA4):c.310_314del (p.Asn104fs)
NM_004100.5(EYA4):c.725-2A>G
NM_004100.5(EYA4):c.838C>T (p.Gln280Ter)
NM_004208.4(AIFM1):c.1739A>G (p.Asn580Ser)
NM_004208.4(AIFM1):c.1741A>T (p.Ile581Phe)
NM_004208.4(AIFM1):c.451C>T (p.Arg151Trp)
NM_004208.4(AIFM1):c.457C>T (p.Arg153Trp)
NM_004208.4(AIFM1):c.691A>G (p.Lys231Glu)
NM_004447.6(EPS8):c.1048C>T (p.Gln350Ter)
NM_004447.6(EPS8):c.517-1G>T
NM_004447.6(EPS8):c.600-1G>A
NM_004447.6(EPS8):c.694C>T (p.Arg232Ter)
NM_004447.6(EPS8):c.811-1G>A
NM_004700.4(KCNQ4):c.1107T>A (p.Tyr369Ter)
NM_004700.4(KCNQ4):c.721G>C (p.Ala241Pro)
NM_004839.4(HOMER2):c.1023_1029del (p.Asp342fs)
NM_004999.4(MYO6):c.117+1G>A
NM_004999.4(MYO6):c.1223+2T>G
NM_004999.4(MYO6):c.2366_2367del (p.Thr789fs)
NM_004999.4(MYO6):c.2522_2523del (p.Val841fs)
NM_004999.4(MYO6):c.2677G>T (p.Glu893Ter)
NM_004999.4(MYO6):c.2863C>T (p.Arg955Trp)
NM_005422.4(TECTA):c.2663_2664dup (p.Cys889fs)
NM_005422.4(TECTA):c.3013del (p.Leu1005fs)
NM_005422.4(TECTA):c.3060_3061insAAGAGTCTGAACCAAGGGAGGAGCAGTGGCGTGGAAAGGGTTGTCAGCTAAGA (p.Glu1021delinsLysSerLeuAsnGlnGlyArgSerSerGlyValGluArgValValSerTer)
NM_005422.4(TECTA):c.4105+1G>A
NM_005422.4(TECTA):c.4470_4476dup (p.Gly1493fs)
NM_005422.4(TECTA):c.4854del (p.Cys1619fs)
NM_005422.4(TECTA):c.5619_5620del (p.Trp1875fs)
NM_005422.4(TECTA):c.805C>T (p.Arg269Ter)
NM_005797.4(MPZL2):c.2T>C (p.Met1Thr)
NM_005797.4(MPZL2):c.500dup (p.Ile168fs)
NM_006005.3(WFS1):c.2605_2616dup (p.His872_Gly873insSerThrValHis)
NM_006383.4(CIB2):c.175del (p.Ile59fs)
NM_006383.4(CIB2):c.286del (p.Ser96fs)
NM_006383.4(CIB2):c.375_381del (p.Lys125fs)
NM_006383.4(CIB2):c.383_384insTA (p.Glu129fs)
NM_006383.4(CIB2):c.384_385insT (p.Glu129Ter)
NM_006383.4(CIB2):c.530del (p.Pro177fs)
NM_006383.4(CIB2):c.531del (p.Asp178fs)
NM_014332.3(SMPX):c.265T>C (p.Ter89Gln)
NM_014332.3(SMPX):c.45+1G>T
NM_015404.4(WHRN):c.2426T>C (p.Leu809Pro)
NM_015404.4(WHRN):c.2430_2445del (p.Glu811fs)
NM_016239.4(MYO15A):c.10021C>T (p.Gln3341Ter)
NM_016239.4(MYO15A):c.10082+2T>G
NM_016239.4(MYO15A):c.10143G>A (p.Trp3381Ter)
NM_016239.4(MYO15A):c.10156dup (p.Ser3386fs)
NM_016239.4(MYO15A):c.10192del (p.His3398fs)
NM_016239.4(MYO15A):c.10202G>T (p.Arg3401Leu)
NM_016239.4(MYO15A):c.10344_10345dup (p.Thr3449fs)
NM_016239.4(MYO15A):c.10351-1G>C
NM_016239.4(MYO15A):c.10351-2A>G
NM_016239.4(MYO15A):c.10491+1G>A
NM_016239.4(MYO15A):c.1271del (p.Pro424fs)
NM_016239.4(MYO15A):c.1450C>T (p.Gln484Ter)
NM_016239.4(MYO15A):c.1627C>T (p.Gln543Ter)
NM_016239.4(MYO15A):c.1635_1636dup (p.Leu546fs)
NM_016239.4(MYO15A):c.1671del (p.Phe557fs)
NM_016239.4(MYO15A):c.1870del (p.Thr624fs)
NM_016239.4(MYO15A):c.2085del (p.Ser696fs)
NM_016239.4(MYO15A):c.2464G>T (p.Glu822Ter)
NM_016239.4(MYO15A):c.2482C>T (p.Arg828Ter)
NM_016239.4(MYO15A):c.2722G>T (p.Glu908Ter)
NM_016239.4(MYO15A):c.2889_2890del (p.Phe964fs)
NM_016239.4(MYO15A):c.2892del (p.Leu965fs)
NM_016239.4(MYO15A):c.2910del (p.Val971fs)
NM_016239.4(MYO15A):c.3130_3147del (p.Ile1044_Asp1049del)
NM_016239.4(MYO15A):c.3305dup (p.Gly1104_Glu1105insTer)
NM_016239.4(MYO15A):c.3353del (p.Met1118fs)
NM_016239.4(MYO15A):c.3473G>A (p.Trp1158Ter)
NM_016239.4(MYO15A):c.3692+1G>A
NM_016239.4(MYO15A):c.3692+5G>C
NM_016239.4(MYO15A):c.3725T>C (p.Leu1242Pro)
NM_016239.4(MYO15A):c.3755A>G (p.Tyr1252Cys)
NM_016239.4(MYO15A):c.3757A>G (p.Thr1253Ala)
NM_016239.4(MYO15A):c.3763A>T (p.Ile1255Phe)
NM_016239.4(MYO15A):c.3823C>T (p.Gln1275Ter)
NM_016239.4(MYO15A):c.3867dup
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.4070T>C (p.Phe1357Ser)
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) rs771676248
NM_016239.4(MYO15A):c.4114G>C (p.Gly1372Arg)
NM_016239.4(MYO15A):c.4174_4183del (p.Tyr1392fs)
NM_016239.4(MYO15A):c.4194G>C (p.Arg1398Ser)
NM_016239.4(MYO15A):c.4207-1G>T
NM_016239.4(MYO15A):c.4226del (p.Tyr1409fs)
NM_016239.4(MYO15A):c.4321G>T (p.Gly1441Cys)
NM_016239.4(MYO15A):c.4351G>C (p.Asp1451His)
NM_016239.4(MYO15A):c.4385del (p.Met1462fs)
NM_016239.4(MYO15A):c.4482+1G>A
NM_016239.4(MYO15A):c.4538C>A (p.Ala1513Glu)
NM_016239.4(MYO15A):c.4656-1G>A
NM_016239.4(MYO15A):c.4661C>A (p.Ala1554Asp)
NM_016239.4(MYO15A):c.4671G>C (p.Lys1557Asn)
NM_016239.4(MYO15A):c.4777G>C (p.Glu1593Gln)
NM_016239.4(MYO15A):c.4780-2A>G
NM_016239.4(MYO15A):c.4875G>C (p.Gln1625His)
NM_016239.4(MYO15A):c.4876-1G>A
NM_016239.4(MYO15A):c.4876-2A>T
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) rs1257912388
NM_016239.4(MYO15A):c.4969dup (p.Ile1657fs)
NM_016239.4(MYO15A):c.4970T>A (p.Ile1657Asn)
NM_016239.4(MYO15A):c.5023T>C (p.Phe1675Leu)
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5073del (p.Lys1691fs)
NM_016239.4(MYO15A):c.5245C>T (p.Gln1749Ter)
NM_016239.4(MYO15A):c.5306C>T (p.Thr1769Ile)
NM_016239.4(MYO15A):c.5306_5307del (p.Thr1769fs)
NM_016239.4(MYO15A):c.5309_5310del (p.Val1770fs)
NM_016239.4(MYO15A):c.5361-1G>C
NM_016239.4(MYO15A):c.5385C>A (p.Cys1795Ter)
NM_016239.4(MYO15A):c.5531G>T (p.Arg1844Met)
NM_016239.4(MYO15A):c.5536del (p.Cys1846fs)
NM_016239.4(MYO15A):c.5585G>C (p.Cys1862Ser)
NM_016239.4(MYO15A):c.5651T>C (p.Leu1884Pro)
NM_016239.4(MYO15A):c.5769del (p.Ser1924fs)
NM_016239.4(MYO15A):c.5797C>T (p.Gln1933Ter)
NM_016239.4(MYO15A):c.5859_5869del (p.Lys1954fs)
NM_016239.4(MYO15A):c.6011C>T (p.Pro2004Leu)
NM_016239.4(MYO15A):c.6153del (p.Lys2052fs)
NM_016239.4(MYO15A):c.6226C>T (p.Gln2076Ter)
NM_016239.4(MYO15A):c.6278T>C (p.Leu2093Pro)
NM_016239.4(MYO15A):c.6294C>G (p.Asp2098Glu)
NM_016239.4(MYO15A):c.6301del (p.Leu2101fs)
NM_016239.4(MYO15A):c.6488_6494del (p.Cys2163fs)
NM_016239.4(MYO15A):c.6505del (p.Leu2169fs)
NM_016239.4(MYO15A):c.6509+1G>C
NM_016239.4(MYO15A):c.6541C>T (p.Gln2181Ter)
NM_016239.4(MYO15A):c.6586C>T (p.Gln2196Ter)
NM_016239.4(MYO15A):c.6604dup (p.Ala2202fs)
NM_016239.4(MYO15A):c.6611G>C (p.Arg2204Pro)
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6692-1G>A
NM_016239.4(MYO15A):c.6697C>T (p.Gln2233Ter)
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6764+2T>C
NM_016239.4(MYO15A):c.6782G>A (p.Trp2261Ter)
NM_016239.4(MYO15A):c.6792G>A (p.Trp2264Ter)
NM_016239.4(MYO15A):c.6823_6832del (p.Ala2275fs)
NM_016239.4(MYO15A):c.6850_6858del (p.Leu2284_Leu2286del)
NM_016239.4(MYO15A):c.6956+6T>C
NM_016239.4(MYO15A):c.6957-1G>C
NM_016239.4(MYO15A):c.7015G>T (p.Glu2339Ter)
NM_016239.4(MYO15A):c.7033del (p.Asp2346fs)
NM_016239.4(MYO15A):c.7235_7241del (p.Ile2412fs)
NM_016239.4(MYO15A):c.7327+5G>C
NM_016239.4(MYO15A):c.7414C>T (p.Gln2472Ter)
NM_016239.4(MYO15A):c.7452_7456dup (p.Arg2486delinsThrTer)
NM_016239.4(MYO15A):c.7854del (p.Gln2620fs)
NM_016239.4(MYO15A):c.7963del (p.Ser2655fs)
NM_016239.4(MYO15A):c.7966+1G>A
NM_016239.4(MYO15A):c.7967-2A>C
NM_016239.4(MYO15A):c.7996_8008dup (p.Gln2670fs)
NM_016239.4(MYO15A):c.8008C>T (p.Gln2670Ter)
NM_016239.4(MYO15A):c.8049del (p.Tyr2684fs)
NM_016239.4(MYO15A):c.8315A>G (p.Tyr2772Cys)
NM_016239.4(MYO15A):c.8378C>A (p.Ser2793Tyr)
NM_016239.4(MYO15A):c.8403del (p.Met2802fs)
NM_016239.4(MYO15A):c.8459+1G>A
NM_016239.4(MYO15A):c.8459+2T>A
NM_016239.4(MYO15A):c.8559_8599del (p.Val2854fs)
NM_016239.4(MYO15A):c.8561T>G (p.Val2854Gly)
NM_016239.4(MYO15A):c.8613C>A (p.Tyr2871Ter)
NM_016239.4(MYO15A):c.8662_8696dup (p.Glu2900fs)
NM_016239.4(MYO15A):c.8680A>G (p.Ile2894Val)
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.8713+1G>A
NM_016239.4(MYO15A):c.8788+1G>A
NM_016239.4(MYO15A):c.8788+2T>C
NM_016239.4(MYO15A):c.8788G>T (p.Gly2930Cys)
NM_016239.4(MYO15A):c.8824_8825insA (p.Arg2942fs)
NM_016239.4(MYO15A):c.9156+1G>T
NM_016239.4(MYO15A):c.9193dup (p.Ser3065fs)
NM_016239.4(MYO15A):c.9196del (p.Ser3066fs)
NM_016239.4(MYO15A):c.9207del (p.Met3070fs)
NM_016239.4(MYO15A):c.9229G>A (p.Ala3077Thr)
NM_016239.4(MYO15A):c.9229G>C (p.Ala3077Pro)
NM_016239.4(MYO15A):c.9230-1G>C
NM_016239.4(MYO15A):c.9304-1G>C
NM_016239.4(MYO15A):c.9309C>A (p.Cys3103Ter)
NM_016239.4(MYO15A):c.9342C>A (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9387-2A>G
NM_016239.4(MYO15A):c.9407G>A (p.Trp3136Ter)
NM_016239.4(MYO15A):c.9408G>A (p.Trp3136Ter)
NM_016239.4(MYO15A):c.9517G>T (p.Gly3173Trp)
NM_016239.4(MYO15A):c.9569del (p.Gly3190fs)
NM_016239.4(MYO15A):c.9690+2T>A
NM_016239.4(MYO15A):c.96del (p.Thr33fs)
NM_016239.4(MYO15A):c.9774del (p.Val3259fs)
NM_016239.4(MYO15A):c.9787+2T>C
NM_016239.4(MYO15A):c.9787G>A (p.Gly3263Ser)
NM_016239.4(MYO15A):c.9788-2A>C
NM_016239.4(MYO15A):c.9808dup (p.Ser3270fs)
NM_016929.5(CLIC5):c.535del (p.Asp179fs)
NM_017433.5(MYO3A):c.1053+2T>A
NM_017433.5(MYO3A):c.268A>T (p.Lys90Ter)
NM_017433.5(MYO3A):c.2794-1G>A
NM_022124.6(CDH23):c.1299del (p.Asn434fs)
NM_022124.6(CDH23):c.132G>C (p.Glu44Asp)
NM_022124.6(CDH23):c.145+1G>C
NM_022124.6(CDH23):c.1569del (p.Asp522_Tyr523insTer)
NM_022124.6(CDH23):c.1765G>A (p.Asp589Asn)
NM_022124.6(CDH23):c.1933G>A (p.Asp645Asn)
NM_022124.6(CDH23):c.2333G>A (p.Trp778Ter)
NM_022124.6(CDH23):c.2580dup (p.Thr861fs)
NM_022124.6(CDH23):c.2803del (p.Arg935fs)
NM_022124.6(CDH23):c.2815del (p.Leu939fs)
NM_022124.6(CDH23):c.2860G>C (p.Asp954His)
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3715+1G>C
NM_022124.6(CDH23):c.3801del (p.Thr1267_Val1268insTer)
NM_022124.6(CDH23):c.3923A>T (p.Asp1308Val)
NM_022124.6(CDH23):c.3934C>T (p.Gln1312Ter)
NM_022124.6(CDH23):c.39G>A (p.Trp13Ter)
NM_022124.6(CDH23):c.428A>C (p.Glu143Ala)
NM_022124.6(CDH23):c.4306C>T (p.Gln1436Ter)
NM_022124.6(CDH23):c.4323_4324insCC (p.Lys1442fs)
NM_022124.6(CDH23):c.4324_4325insG (p.Lys1442fs)
NM_022124.6(CDH23):c.4488+2T>A
NM_022124.6(CDH23):c.4687_4688del (p.Leu1563fs)
NM_022124.6(CDH23):c.4693TAC[1] (p.Tyr1566del)
NM_022124.6(CDH23):c.4799ACC[1] (p.His1601del)
NM_022124.6(CDH23):c.494dup (p.Ser166fs)
NM_022124.6(CDH23):c.5068-1G>A
NM_022124.6(CDH23):c.522del (p.Ser175fs)
NM_022124.6(CDH23):c.5239dup (p.Asp1747fs)
NM_022124.6(CDH23):c.5311del (p.Arg1771fs)
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)
NM_022124.6(CDH23):c.5816G>T (p.Arg1939Met)
NM_022124.6(CDH23):c.586G>A (p.Glu196Lys) rs753985914
NM_022124.6(CDH23):c.6238G>C (p.Glu2080Gln)
NM_022124.6(CDH23):c.6240G>T (p.Glu2080Asp)
NM_022124.6(CDH23):c.6242_6253+12del
NM_022124.6(CDH23):c.6374T>A (p.Ile2125Asn)
NM_022124.6(CDH23):c.6420del (p.Ser2139_Tyr2140insTer)
NM_022124.6(CDH23):c.6504T>A (p.Asn2168Lys)
NM_022124.6(CDH23):c.665del (p.Leu222fs)
NM_022124.6(CDH23):c.6688del (p.Ala2230fs)
NM_022124.6(CDH23):c.6713G>A (p.Gly2238Glu)
NM_022124.6(CDH23):c.6829G>A (p.Ala2277Thr)
NM_022124.6(CDH23):c.6919G>A (p.Glu2307Lys)
NM_022124.6(CDH23):c.7128C>A (p.Asp2376Glu) rs930082957
NM_022124.6(CDH23):c.7160del (p.Pro2387fs)
NM_022124.6(CDH23):c.7225-1G>T
NM_022124.6(CDH23):c.7922A>G (p.Asp2641Gly)
NM_022124.6(CDH23):c.7928dup (p.Leu2644fs)
NM_022124.6(CDH23):c.7999_8023del (p.Asp2667fs)
NM_022124.6(CDH23):c.8027_8030del (p.Ala2676fs)
NM_022124.6(CDH23):c.8135T>A (p.Leu2712Gln)
NM_022124.6(CDH23):c.8317G>T (p.Glu2773Ter)
NM_022124.6(CDH23):c.8388dup (p.Ala2797fs)
NM_022124.6(CDH23):c.8722+1G>T
NM_022124.6(CDH23):c.8865_8875dup (p.Ile2959fs)
NM_022124.6(CDH23):c.8949dup (p.Gly2984fs)
NM_022124.6(CDH23):c.9128G>A (p.Arg3043Gln)
NM_022124.6(CDH23):c.9151C>T (p.Gln3051Ter)
NM_022124.6(CDH23):c.9498del (p.Thr3167fs)
NM_022124.6(CDH23):c.9613_9616del (p.Ile3205fs)
NM_022124.6(CDH23):c.9631_9633+9del
NM_022772.4(EPS8L2):c.1197G>A (p.Trp399Ter)
NM_022772.4(EPS8L2):c.1317dup (p.Leu440fs)
NM_022772.4(EPS8L2):c.357_361dup (p.Gln121fs)
NM_022772.4(EPS8L2):c.961dup (p.Ile321fs)
NM_022772.4(EPS8L2):c.996del (p.Lys333fs)
NM_024915.4(GRHL2):c.1318C>T (p.Gln440Ter)
NM_024915.4(GRHL2):c.1698+1G>A
NM_031475.3(ESPN):c.1916-1G>A
NM_031475.3(ESPN):c.1995_2056del (p.Lys666fs)
NM_080680.3(COL11A2):c.3512_3528+1del
NM_080680.3(COL11A2):c.3582+2_3582+3del
NM_080680.3(COL11A2):c.3636+1G>A
NM_080680.3(COL11A2):c.4339G>C (p.Gly1447Arg)
NM_080680.3(COL11A2):c.4483-1G>C
NM_080680.3(COL11A2):c.4553G>C (p.Gly1518Ala)
NM_080680.3(COL11A2):c.5191C>A (p.Pro1731Thr)
NM_133261.3(GIPC3):c.281dup (p.Gln95fs)
NM_133261.3(GIPC3):c.313C>T (p.His105Tyr)
NM_133261.3(GIPC3):c.331A>T (p.Lys111Ter)
NM_133261.3(GIPC3):c.466_476del (p.Ser156fs)
NM_133261.3(GIPC3):c.766G>A (p.Gly256Ser)
NM_133261.3(GIPC3):c.788C>A (p.Ala263Glu)
NM_138691.3(TMC1):c.1154G>A (p.Trp385Ter)
NM_138691.3(TMC1):c.1224+1G>A
NM_138691.3(TMC1):c.1262C>T (p.Pro421Leu)
NM_138691.3(TMC1):c.128_138del (p.Lys43fs)
NM_138691.3(TMC1):c.1298A>C (p.Tyr433Ser)
NM_138691.3(TMC1):c.1298A>G (p.Tyr433Cys)
NM_138691.3(TMC1):c.1334G>T (p.Arg445Leu)
NM_138691.3(TMC1):c.1512del (p.Phe504fs)
NM_138691.3(TMC1):c.1598del (p.Leu533fs)
NM_138691.3(TMC1):c.1662_1663del (p.Asn554fs)
NM_138691.3(TMC1):c.1679del (p.Asp560fs)
NM_138691.3(TMC1):c.1689T>A (p.Tyr563Ter)
NM_138691.3(TMC1):c.1695T>G (p.Tyr565Ter)
NM_138691.3(TMC1):c.1764G>T (p.Trp588Cys)
NM_138691.3(TMC1):c.2004-10A>G
NM_138691.3(TMC1):c.2035G>T (p.Glu679Ter)
NM_138691.3(TMC1):c.2125_2129+7del
NM_138691.3(TMC1):c.2134_2135del (p.Ala712fs)
NM_138691.3(TMC1):c.2180del (p.Asn727fs)
NM_138691.3(TMC1):c.236+2T>C
NM_138691.3(TMC1):c.362+2T>C
NM_138691.3(TMC1):c.364G>T (p.Glu122Ter)
NM_138691.3(TMC1):c.453+1G>T
NM_138691.3(TMC1):c.453+2T>G
NM_138691.3(TMC1):c.535+2dup
NM_138691.3(TMC1):c.535+5G>A
NM_138691.3(TMC1):c.614T>C (p.Leu205Pro)
NM_138691.3(TMC1):c.65-4_77del
NM_138691.3(TMC1):c.665G>A (p.Gly222Asp)
NM_138691.3(TMC1):c.709del (p.Ala237fs)
NM_138691.3(TMC1):c.748G>A (p.Ala250Thr)
NM_138691.3(TMC1):c.772G>A (p.Gly258Ser)
NM_138691.3(TMC1):c.78_82del (p.Glu26fs)
NM_138691.3(TMC1):c.84_85del (p.Glu29fs)
NM_138691.3(TMC1):c.861C>G (p.Tyr287Ter)
NM_138691.3(TMC1):c.862A>G (p.Ser288Gly)
NM_138691.3(TMC1):c.912_916del (p.Gly305fs)
NM_138691.3(TMC1):c.968dup (p.Tyr323Ter)
NM_138691.3(TMC1):c.969C>G (p.Tyr323Ter)
NM_138691.3(TMC1):c.997_998insCAATT (p.Asn333fs)
NM_138691.3(TMC1):c.9del (p.Val6fs)
NM_144672.4(OTOA):c.184del (p.His62fs)
NM_144672.4(OTOA):c.2078C>T (p.Pro693Leu)
NM_144672.4(OTOA):c.782T>G (p.Leu261Trp)
NM_147196.3(TMIE):c.286C>T (p.Arg96Ter)
NM_147196.3(TMIE):c.87_88insT (p.Val30fs)
NM_153676.4(USH1C):c.1210+2T>G
NM_153676.4(USH1C):c.133G>T (p.Asp45Tyr)
NM_153676.4(USH1C):c.1508_1509dup (p.Ala504fs)
NM_153676.4(USH1C):c.2226+2T>G
NM_153676.4(USH1C):c.37-1G>T
NM_153676.4(USH1C):c.378_379insT (p.Gly127fs)
NM_153676.4(USH1C):c.380_381insTTT (p.Leu128_Gln129insLeu)
NM_153676.4(USH1C):c.497-2A>G
NM_153676.4(USH1C):c.544T>C (p.Trp182Arg)
NM_153676.4(USH1C):c.579+2T>C
NM_153700.2(STRC):c.3922C>T (p.Gln1308Ter)
NM_153700.2(STRC):c.4171C>T (p.Arg1391Cys) rs376104748
NM_177398.4(LMX1A):c.596G>A (p.Arg199Lys)
NM_182548.4(LHFPL5):c.200A>G (p.Tyr67Cys)
NM_182548.4(LHFPL5):c.396G>A (p.Trp132Ter)
NM_182548.4(LHFPL5):c.53A>G (p.Tyr18Cys)
NM_182548.4(LHFPL5):c.650-2A>G
NM_194248.3(OTOF):c.1036_1039del (p.Pro348fs)
NM_194248.3(OTOF):c.1366G>T (p.Val456Leu)
NM_194248.3(OTOF):c.1366_1367insC (p.Val456fs)
NM_194248.3(OTOF):c.1408C>T (p.Gln470Ter)
NM_194248.3(OTOF):c.1545del (p.Ile515fs)
NM_194248.3(OTOF):c.1774C>T (p.Gln592Ter)
NM_194248.3(OTOF):c.1836_1837del (p.Phe613fs)
NM_194248.3(OTOF):c.1951C>T (p.Gln651Ter)
NM_194248.3(OTOF):c.2178C>A (p.Tyr726Ter)
NM_194248.3(OTOF):c.2296G>T (p.Glu766Ter)
NM_194248.3(OTOF):c.2316-2A>C
NM_194248.3(OTOF):c.2467dup (p.Asp823fs)
NM_194248.3(OTOF):c.2677-1G>A
NM_194248.3(OTOF):c.2744G>A (p.Trp915Ter)
NM_194248.3(OTOF):c.2826_2839del (p.Gly943fs)
NM_194248.3(OTOF):c.2972_2975del (p.Asn991fs)
NM_194248.3(OTOF):c.3127-2A>C
NM_194248.3(OTOF):c.3263del (p.Leu1088fs)
NM_194248.3(OTOF):c.3381dup (p.Pro1128fs)
NM_194248.3(OTOF):c.3409-2A>G
NM_194248.3(OTOF):c.3409-2A>T
NM_194248.3(OTOF):c.3430del (p.Asp1144fs)
NM_194248.3(OTOF):c.3454C>T (p.Gln1152Ter)
NM_194248.3(OTOF):c.3993_3996del (p.Lys1331fs)
NM_194248.3(OTOF):c.4021G>T (p.Glu1341Ter)
NM_194248.3(OTOF):c.4091-1G>A
NM_194248.3(OTOF):c.4228-2A>G
NM_194248.3(OTOF):c.4342_4343insT (p.Arg1448fs)
NM_194248.3(OTOF):c.4362+1G>T
NM_194248.3(OTOF):c.4394del (p.Pro1465fs)
NM_194248.3(OTOF):c.4466_4467dup (p.Ile1490fs)
NM_194248.3(OTOF):c.4501-2A>G
NM_194248.3(OTOF):c.5082dup (p.Asp1695fs)
NM_194248.3(OTOF):c.5087_5095del (p.Lys1696_Gly1698del)
NM_194248.3(OTOF):c.5103+1G>A
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735
NM_194248.3(OTOF):c.5380del (p.Leu1794fs)
NM_194248.3(OTOF):c.5390dup (p.Asp1798fs)
NM_194248.3(OTOF):c.5509del (p.His1837fs)
NM_194248.3(OTOF):c.5668T>C (p.Trp1890Arg) rs1572399566
NM_194248.3(OTOF):c.568del (p.Glu190fs)
NM_194248.3(OTOF):c.5713-1G>A
NM_194248.3(OTOF):c.5813+1G>A
NM_194323.3(OTOF):c.3593TCA[2] (p.Ile1200del)

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