ClinVar Miner

List of variants reported as uncertain significance for nonsyndromic genetic hearing loss

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6668
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HGVS dbSNP gnomAD frequency
NM_182548.4(LHFPL5):c.*510A>T rs139510846 0.05556
NM_182548.4(LHFPL5):c.*477T>C rs868411000 0.04547
NM_182548.4(LHFPL5):c.*506A>T rs370002177 0.02744
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_182548.4(LHFPL5):c.*479T>C rs367730858 0.02419
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952 0.02416
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_182548.4(LHFPL5):c.*199A>G rs9470110 0.02252
NM_016239.4(MYO15A):c.2462A>C (p.Gln821Pro) rs372125621 0.02081
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_147196.3(TMIE):c.*260C>A rs62246206 0.01904
NM_182548.4(LHFPL5):c.*459C>T rs886061352 0.01890
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_182548.4(LHFPL5):c.*449C>T rs57339676 0.01785
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) rs80356573 0.01570
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_194248.3(OTOF):c.-113G>A rs79734645 0.01288
NM_000441.2(SLC26A4):c.*350C>T rs17154362 0.01276
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_016239.4(MYO15A):c.3023C>G (p.Thr1008Ser) rs143316414 0.01192
NM_182548.4(LHFPL5):c.*514T>A rs575842617 0.01191
NM_016239.4(MYO15A):c.8262G>A (p.Thr2754=) rs1006770 0.01178
NM_001256317.3(TMPRSS3):c.*777G>T rs35447393 0.01161
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_004452.4(ESRRB):c.-324G>A rs79948698 0.01117
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_002906.4(RDX):c.*885G>A rs142279957 0.00999
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_001379180.1(ESRRB):c.*3347A>T rs151183297 0.00988
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_017433.5(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833 0.00965
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_001042702.5(PJVK):c.-45T>A rs74435413 0.00950
NM_001042702.5(PJVK):c.-303G>A rs114119504 0.00949
NM_001042702.5(PJVK):c.-263G>A rs116368316 0.00948
NM_002241.5(KCNJ10):c.*2242T>C rs115120891 0.00948
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_194248.3(OTOF):c.710+10C>T rs55639868 0.00890
NM_000441.2(SLC26A4):c.*614C>T rs77315223 0.00874
NM_182548.4(LHFPL5):c.*425C>T rs13204950 0.00866
NM_194248.3(OTOF):c.*440T>C rs112949167 0.00865
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_016239.4(MYO15A):c.4206+13C>G rs141183007 0.00838
NM_017433.5(MYO3A):c.*493G>A rs72787376 0.00838
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_017433.5(MYO3A):c.3859C>A (p.Pro1287Thr) rs35575696 0.00819
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_017433.5(MYO3A):c.4250C>T (p.Thr1417Ile) rs34151474 0.00780
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_001256317.3(TMPRSS3):c.*815A>G rs116974943 0.00777
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_147196.3(TMIE):c.*642C>T rs78774613 0.00765
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_004999.4(MYO6):c.-225G>C rs886061759 0.00715
NM_000260.4(MYO7A):c.*392A>G rs144527614 0.00712
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_182548.4(LHFPL5):c.*465T>C rs199534465 0.00688
NM_016239.4(MYO15A):c.3140C>G (p.Pro1047Arg) rs77565048 0.00686
NM_194248.3(OTOF):c.5558G>A (p.Arg1853Gln) rs111033329 0.00684
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_002906.4(RDX):c.1059A>G (p.Gln353=) rs139953187 0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_016239.4(MYO15A):c.10182G>A (p.Ala3394=) rs79230542 0.00665
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_002906.4(RDX):c.*1083G>A rs114509945 0.00627
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_017433.5(MYO3A):c.3408C>T (p.Phe1136=) rs61731629 0.00612
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_002906.4(RDX):c.*79A>C rs55953813 0.00607
NM_016239.4(MYO15A):c.6614C>T (p.Thr2205Ile) rs121908970 0.00599
NM_001384474.1(LOXHD1):c.2599-11C>T rs150139569 0.00590
NM_001146079.2(CLDN14):c.-297G>A rs140333712 0.00588
NM_182548.4(LHFPL5):c.-63C>G rs41270084 0.00582
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_016239.4(MYO15A):c.2790C>T (p.Asp930=) rs185688918 0.00559
NM_000441.2(SLC26A4):c.*1905G>A rs375630290 0.00558
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_001145308.4(LRTOMT):c.-602G>A rs111537544 0.00551
NM_002241.5(KCNJ10):c.*2596A>G rs116418256 0.00551
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_182548.4(LHFPL5):c.-132A>G rs143126474 0.00538
NM_000441.2(SLC26A4):c.*376A>G rs540093295 0.00535
NM_182548.4(LHFPL5):c.*803A>G rs73404033 0.00535
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_012188.5(FOXI1):c.726C>T (p.Ser242=) rs35678180 0.00520
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_002906.4(RDX):c.-149C>T rs575111883 0.00511
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_017433.5(MYO3A):c.*270A>G rs115859827 0.00498
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_017433.5(MYO3A):c.1971T>C (p.Thr657=) rs112195128 0.00489
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_001384474.1(LOXHD1):c.2871G>A (p.Ser957=) rs181591912 0.00482
NM_001145308.4(LRTOMT):c.-885C>T rs116038324 0.00480
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671 0.00473
NM_145309.6(LRRC51):c.352G>C (p.Gly118Arg) rs149637884 0.00473
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_016239.4(MYO15A):c.6192G>A (p.Gly2064=) rs55688805 0.00470
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607 0.00464
NM_002241.5(KCNJ10):c.*1161T>C rs149832483 0.00464
NM_016239.4(MYO15A):c.3756C>T (p.Tyr1252=) rs59933498 0.00463
NM_017433.5(MYO3A):c.2169T>C (p.Asn723=) rs114982270 0.00462
NM_002241.5(KCNJ10):c.*266T>A rs144487288 0.00459
NM_000441.2(SLC26A4):c.416-13T>C rs77553387 0.00455
NM_016239.4(MYO15A):c.5894G>A (p.Arg1965His) rs139347804 0.00451
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_194248.3(OTOF):c.3471G>T (p.Arg1157=) rs61742191 0.00446
NM_194248.3(OTOF):c.4869C>T (p.Gly1623=) rs61744000 0.00446
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) rs139437157 0.00444
NM_002906.4(RDX):c.*429G>A rs146390813 0.00444
NM_194323.3(OTOF):c.3621G>A (p.Leu1207=) rs73920281 0.00438
NM_194248.3(OTOF):c.*341G>A rs549185736 0.00435
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237 0.00433
NM_182548.4(LHFPL5):c.*778C>T rs146335201 0.00432
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004452.4(ESRRB):c.-236C>T rs181925962 0.00421
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_001145308.5(LRTOMT):c.*1810A>T rs142914900 0.00418
NM_001145308.5(LRTOMT):c.352G>A (p.Val118Ile) rs181092713 0.00416
NM_001384474.1(LOXHD1):c.*96G>A rs569671846 0.00415
NM_016239.4(MYO15A):c.3201G>A (p.Ala1067=) rs148356427 0.00415
NM_016239.4(MYO15A):c.2562C>T (p.Cys854=) rs182293382 0.00413
NM_016239.4(MYO15A):c.-203C>T rs55821557 0.00412
NM_017433.5(MYO3A):c.1777-14G>T rs4592324 0.00409
NM_001256317.3(TMPRSS3):c.*755G>T rs146774207 0.00408
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_001146079.2(CLDN14):c.-242C>T rs78291168 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile) rs115399307 0.00376
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_004999.4(MYO6):c.*1324A>G rs191987417 0.00357
NM_004999.4(MYO6):c.*2716A>G rs188568413 0.00357
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_002241.5(KCNJ10):c.*2034C>T rs192835895 0.00345
NM_182548.4(LHFPL5):c.*461T>C rs868561014 0.00343
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_194248.3(OTOF):c.5039G>A (p.Arg1680His) rs11893228 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709 0.00336
NM_017433.5(MYO3A):c.949G>C (p.Ala317Pro) rs61731652 0.00334
NM_182548.4(LHFPL5):c.*779G>A rs139570565 0.00333
NM_017433.5(MYO3A):c.-30A>G rs189912098 0.00332
NM_016239.4(MYO15A):c.5880C>T (p.His1960=) rs201487604 0.00331
NM_001042702.5(PJVK):c.-84C>T rs183157169 0.00330
NM_016239.4(MYO15A):c.1158C>T (p.Gly386=) rs186829587 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_000441.2(SLC26A4):c.*1123A>G rs141341508 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_147196.2(TMIE):c.-154G>A rs527373499 0.00318
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=) rs189873733 0.00308
NM_004999.4(MYO6):c.*2535_*2538dup rs149527616 0.00304
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_182548.4(LHFPL5):c.*169G>C rs181922784 0.00299
NM_182548.4(LHFPL5):c.*231G>C rs189788458 0.00298
NM_194248.3(OTOF):c.3734-10A>C rs73920284 0.00297
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_004999.4(MYO6):c.*1287T>A rs570884031 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_001256317.3(TMPRSS3):c.1119C>T (p.Asp373=) rs113747896 0.00291
NM_002906.4(RDX):c.*156A>G rs186249296 0.00290
NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) rs114293092 0.00289
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_016239.4(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831 0.00280
NM_001384474.1(LOXHD1):c.6783G>A (p.Gly2261=) rs115835484 0.00279
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_004999.4(MYO6):c.*1627A>G rs147347025 0.00273
NM_001384474.1(LOXHD1):c.2307C>T (p.Ser769=) rs115658952 0.00271
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_194248.3(OTOF):c.366C>T (p.Asp122=) rs61747283 0.00269
NM_002906.4(RDX):c.*1955A>G rs138942667 0.00268
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_016239.4(MYO15A):c.*117C>A rs140504536 0.00264
NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=) rs188485743 0.00264
NM_016239.4(MYO15A):c.4779+9G>A rs183256997 0.00264
NM_000441.2(SLC26A4):c.*1059T>C rs183926745 0.00260
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_147196.3(TMIE):c.-73C>T rs560968971 0.00243
NM_016239.4(MYO15A):c.3774C>T (p.Ile1258=) rs148723625 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_001379180.1(ESRRB):c.*2382G>A rs190764707 0.00240
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_182548.4(LHFPL5):c.*433C>T rs866719068 0.00238
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_000441.2(SLC26A4):c.*200A>T rs112260663 0.00236
NM_017433.5(MYO3A):c.4589A>T (p.Gln1530Leu) rs147749053 0.00236
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_145309.6(LRRC51):c.255C>T (p.Asp85=) rs145851613 0.00232
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_004999.4(MYO6):c.*3914T>C rs541767003 0.00228
NM_001379180.1(ESRRB):c.1120+8C>T rs373429794 0.00226
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_016239.4(MYO15A):c.2020C>T (p.Pro674Ser) rs557225435 0.00223
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_194248.3(OTOF):c.-91G>A rs139010880 0.00221
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_017433.5(MYO3A):c.1559C>T (p.Ala520Val) rs72787346 0.00218
NM_182548.4(LHFPL5):c.*1035C>T rs186453856 0.00217
NM_002906.4(RDX):c.-169C>T rs371468276 0.00215
NM_016239.4(MYO15A):c.5133+15A>G rs150128469 0.00214
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile) rs140042576 0.00212
NM_182548.4(LHFPL5):c.*427C>T rs879669569 0.00209
NM_006005.3(WFS1):c.-130C>T rs576284630 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_016239.4(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361 0.00205
NM_017433.5(MYO3A):c.2973G>T (p.Arg991=) rs146647767 0.00204
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_016239.4(MYO15A):c.5754T>G (p.Ile1918Met) rs150403702 0.00197
NM_194248.3(OTOF):c.509+11G>A rs200010052 0.00196
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_016239.4(MYO15A):c.8811C>T (p.His2937=) rs200583193 0.00190
NM_002906.4(RDX):c.*1251A>C rs541339386 0.00189
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_194248.3(OTOF):c.4800-11C>T rs41286009 0.00186
NM_001384474.1(LOXHD1):c.*124A>G rs144543819 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_002241.5(KCNJ10):c.*2479G>A rs142986779 0.00181
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_001145308.5(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_001145809.2(MYH14):c.*243G>A rs561898739 0.00175
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_002906.4(RDX):c.1487C>T (p.Ala496Val) rs74983220 0.00173
NM_004999.4(MYO6):c.*301G>A rs116215208 0.00173
NM_000260.4(MYO7A):c.*38G>A rs149296177 0.00172
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_182548.4(LHFPL5):c.*419T>C rs146860559 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_012188.5(FOXI1):c.30C>T (p.Ser10=) rs137901435 0.00166
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001379180.1(ESRRB):c.206C>T (p.Ala69Val) rs61760172 0.00161
NM_001145308.5(LRTOMT):c.*255G>A rs191758747 0.00159
NM_002241.5(KCNJ10):c.*1839C>T rs138511291 0.00159
NM_001146079.2(CLDN14):c.*48G>A rs199523516 0.00158
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_016239.3(MYO15A):c.-327C>T rs548842769 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_005982.4(SIX1):c.*249A>G rs867880214 0.00147
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_016239.4(MYO15A):c.4719G>A (p.Ala1573=) rs186426892 0.00146
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_001145026.2(PTPRQ):c.6586A>G (p.Met2196Val) rs200166814 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_004999.4(MYO6):c.*2759C>A rs142353235 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_016239.4(MYO15A):c.8269G>A (p.Val2757Met) rs140140417 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_001256317.3(TMPRSS3):c.*492C>T rs115398434 0.00137
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_002473.6(MYH9):c.*1204A>T rs56360445 0.00137
NM_002906.4(RDX):c.*1313G>C rs189484152 0.00137
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys) rs184903112 0.00137
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_000260.4(MYO7A):c.-211A>G rs41298129 0.00133
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_016239.4(MYO15A):c.4655+11G>A rs117021471 0.00132
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783 0.00131
NM_004452.4(ESRRB):c.-211A>G rs569344628 0.00131
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=) rs200068167 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_005219.5(DIAPH1):c.-22G>T rs530831319 0.00128
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_002241.5(KCNJ10):c.*1435C>T rs150657925 0.00127
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00125
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00124
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_002241.5(KCNJ10):c.*2148A>G rs75282171 0.00118
NM_001146079.2(CLDN14):c.-337C>G rs117804848 0.00117
NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr) rs114473792 0.00116
NM_182548.4(LHFPL5):c.*827G>T rs545462913 0.00116
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_022124.6(CDH23):c.1140+14T>C rs376753769 0.00113
NM_002241.5(KCNJ10):c.*3853G>C rs138599071 0.00112
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_000441.2(SLC26A4):c.*1682C>T rs376138572 0.00110
NM_016239.4(MYO15A):c.9691-3C>A rs142996507 0.00110
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_139319.3(SLC17A8):c.*534T>C rs147059443 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001145308.5(LRTOMT):c.-254G>T rs144139038 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_001146079.2(CLDN14):c.*107G>A rs112112443 0.00105
NM_004999.4(MYO6):c.*3879G>A rs189646143 0.00105
NM_012188.5(FOXI1):c.822C>T (p.Gly274=) rs149203108 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_002473.6(MYH9):c.*645C>G rs527539496 0.00104
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001384474.1(LOXHD1):c.3673A>G (p.Ser1225Gly) rs370149278 0.00103
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_001145809.2(MYH14):c.3825+2T>G rs893114796 0.00102
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_022124.6(CDH23):c.-15C>A rs760922529 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_016239.4(MYO15A):c.-227G>A rs185186294 0.00100
NM_016239.4(MYO15A):c.709G>A (p.Asp237Asn) rs201737186 0.00099
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) rs149919890 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_018006.5(TRMU):c.-147C>A rs190351151 0.00097
NM_016239.4(MYO15A):c.1387A>G (p.Met463Val) rs201794569 0.00096
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_001256317.3(TMPRSS3):c.*476C>T rs555701604 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) rs149941106 0.00095
NM_001038603.3(MARVELD2):c.*266T>A rs142001621 0.00094
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_182548.4(LHFPL5):c.*241G>A rs115413675 0.00094
NM_194248.3(OTOF):c.-43T>A rs201812205 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_002906.4(RDX):c.*1368A>C rs540576204 0.00092
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_002473.6(MYH9):c.*474C>T rs55979529 0.00091
NM_016239.4(MYO15A):c.*837T>G rs562682610 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_004999.4(MYO6):c.*1785A>C rs139803503 0.00090
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_015404.4(WHRN):c.-583C>T rs755158483 0.00090
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00088
NM_004999.4(MYO6):c.*3846G>A rs538108588 0.00088
NM_147196.3(TMIE):c.*313C>T rs559640559 0.00088
NM_182548.4(LHFPL5):c.-93C>T rs540528658 0.00088
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) rs146746360 0.00087
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00087
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00087
NM_001127453.2(GSDME):c.*537C>T rs117584512 0.00086
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_004452.4(ESRRB):c.-292C>A rs143251786 0.00085
NM_004999.4(MYO6):c.*4287C>T rs73751759 0.00085
NM_017433.5(MYO3A):c.177C>T (p.Asp59=) rs139958275 0.00085
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449 0.00085
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00083
NM_001384474.1(LOXHD1):c.5399+6T>C rs374607583 0.00083
NM_001384474.1(LOXHD1):c.5692+12G>A rs200518261 0.00083
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_017433.5(MYO3A):c.1242A>T (p.Gly414=) rs3758442 0.00083
NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala) rs141924917 0.00082
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser) rs115143295 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_002241.5(KCNJ10):c.*21A>G rs377019389 0.00080
NM_000441.2(SLC26A4):c.*791A>G rs146458433 0.00079
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_015404.4(WHRN):c.-305C>T rs537786676 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001146079.2(CLDN14):c.-390G>A rs150344346 0.00078
NM_002241.5(KCNJ10):c.*362A>T rs528816212 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_017433.5(MYO3A):c.2133G>A (p.Leu711=) rs56147819 0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001042702.5(PJVK):c.-73C>T rs573551830 0.00077
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_001256317.3(TMPRSS3):c.*539C>T rs540533831 0.00076
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_006005.3(WFS1):c.*448A>T rs113513950 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_194248.3(OTOF):c.1910T>C (p.Ile637Thr) rs111033351 0.00076
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln) rs374728484 0.00073
NM_016239.4(MYO15A):c.10393C>T (p.Arg3465Trp) rs201028204 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_002241.5(KCNJ10):c.*1789G>A rs542638955 0.00072
NM_017433.5(MYO3A):c.546G>T (p.Arg182=) rs148349532 0.00072
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn) rs111033261 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_004999.4(MYO6):c.*1522C>T rs149257535 0.00071
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr) rs139520402 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001379180.1(ESRRB):c.*1527C>T rs370162922 0.00070
NM_002906.4(RDX):c.*2006A>G rs538806036 0.00070
NM_138691.3(TMC1):c.2144A>T (p.Tyr715Phe) rs41310067 0.00070
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp) rs199847981 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_002906.3(RDX):c.-272A>T rs998609007 0.00069
NM_017433.5(MYO3A):c.3729G>A (p.Arg1243=) rs146832858 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) rs143548979 0.00068
NM_004999.4(MYO6):c.*3829T>C rs62414825 0.00068
NM_004999.4(MYO6):c.*4032G>A rs373146837 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_182548.4(LHFPL5):c.*421T>C rs147190285 0.00068
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001042702.5(PJVK):c.-234C>T rs555344314 0.00067
NM_001080476.3(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590 0.00067
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_144991.3(TSPEAR):c.364C>T (p.Arg122Trp) rs146257403 0.00067
NM_000441.2(SLC26A4):c.*1836C>T rs565613619 0.00066
NM_001256317.3(TMPRSS3):c.1332C>T (p.His444=) rs186972955 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_002241.5(KCNJ10):c.*3130C>A rs558975322 0.00066
NM_002241.5(KCNJ10):c.*3737A>G rs535970310 0.00066
NM_002241.5(KCNJ10):c.*3919G>A rs141118901 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) rs188085072 0.00066
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_001379180.1(ESRRB):c.1207C>T (p.Arg403Cys) rs373131497 0.00064
NM_004100.5(EYA4):c.*1744G>A rs542230437 0.00064
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_001384474.1(LOXHD1):c.5050G>A (p.Ala1684Thr) rs376122149 0.00063
NM_016239.4(MYO15A):c.1634C>T (p.Ala545Val) rs199740747 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_016239.4(MYO15A):c.3979C>T (p.Leu1327=) rs146245515 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln) rs150095081 0.00062
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_016239.4(MYO15A):c.5532-10C>T rs200169924 0.00062
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00062
NM_182548.4(LHFPL5):c.*417T>C rs149067362 0.00062
NM_000441.2(SLC26A4):c.*69C>A rs76894072 0.00061
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_022124.6(CDH23):c.3369+12G>A rs187975106 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_138691.3(TMC1):c.*93C>T rs184207177 0.00061
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
NM_002241.5(KCNJ10):c.*2001T>C rs1000595958 0.00059
NM_002241.5(KCNJ10):c.*2827C>T rs183270733 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) rs147493796 0.00058
NM_001379180.1(ESRRB):c.765G>A (p.Glu255=) rs79273904 0.00058
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile) rs140220538 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_016239.4(MYO15A):c.8895C>T (p.Arg2965=) rs200926400 0.00057
NM_000441.2(SLC26A4):c.*523A>G rs560536749 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_005219.5(DIAPH1):c.*88C>T rs574596779 0.00056
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_005219.5(DIAPH1):c.1748C>G (p.Pro583Arg) rs201719002 0.00055
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_147196.3(TMIE):c.*253G>A rs577029568 0.00055
NM_000260.4(MYO7A):c.-154G>A rs545774605 0.00054
NM_001145308.5(LRTOMT):c.*437T>C rs766985557 0.00054
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001378457.1(DMXL2):c.7543A>G (p.Met2515Val) rs72729259 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_012188.5(FOXI1):c.*576T>A rs550861326 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_016239.4(MYO15A):c.7473+10G>T rs181355572 0.00054
NM_022124.6(CDH23):c.5821-13C>T rs117317626 0.00054
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001384474.1(LOXHD1):c.5693-8C>A rs544020946 0.00053
NM_012188.5(FOXI1):c.*986G>C rs111876035 0.00053
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_002241.5(KCNJ10):c.*3506C>T rs79012831 0.00052
NM_004100.5(EYA4):c.*1770T>C rs765287346 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_194248.3(OTOF):c.237G>A (p.Gly79=) rs117985483 0.00052
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_006005.3(WFS1):c.*520G>A rs573433508 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp) rs140567004 0.00050
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr) rs377539902 0.00050
NM_016239.4(MYO15A):c.393C>G (p.Ser131=) rs750022100 0.00050
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_194248.3(OTOF):c.1961G>A (p.Arg654Gln) rs184605839 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_001146079.2(CLDN14):c.-76C>T rs557122405 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_182548.4(LHFPL5):c.*429C>T rs1283607110 0.00047
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys) rs199518750 0.00046
NM_016239.4(MYO15A):c.10094A>G (p.Gln3365Arg) rs200843771 0.00046
NM_016239.4(MYO15A):c.3133A>C (p.Thr1045Pro) rs201826872 0.00046
NM_147196.3(TMIE):c.*612C>T rs747060976 0.00046
NM_147196.3(TMIE):c.*767G>A rs557803959 0.00046
NM_001080476.3(GRXCR1):c.*65A>G rs531527331 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004999.4(MYO6):c.*511G>A rs753019749 0.00045
NM_016239.4(MYO15A):c.915C>T (p.Tyr305=) rs200695102 0.00045
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala) rs74535389 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558 0.00045
NM_002906.4(RDX):c.*2085A>C rs747342832 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_005982.4(SIX1):c.*1232T>C rs558532789 0.00044
NM_017433.5(MYO3A):c.3255C>T (p.Ser1085=) rs35541310 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412 0.00043
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_004100.5(EYA4):c.*3211T>G rs140619740 0.00043
NM_004999.4(MYO6):c.*1847A>G rs886061770 0.00043
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr) rs376220834 0.00043
NM_005982.4(SIX1):c.*766T>A rs63554860 0.00043
NM_022124.6(CDH23):c.*76G>A rs545047958 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_001042702.5(PJVK):c.*2A>C rs200811582 0.00042
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser) rs546735322 0.00042
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe) rs200606811 0.00042
NM_016239.4(MYO15A):c.9792G>A (p.Gln3264=) rs149189607 0.00042
NM_017433.5(MYO3A):c.*233C>T rs569425203 0.00042
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109 0.00041
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr) rs35548413 0.00041
NM_001256317.3(TMPRSS3):c.*477G>A rs537211737 0.00041
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile) rs182149228 0.00041
NM_001384474.1(LOXHD1):c.6731C>T (p.Thr2244Ile) rs561740845 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp) rs138457635 0.00041
NM_002906.4(RDX):c.*1961G>A rs746061486 0.00041
NM_004100.5(EYA4):c.*2269C>T rs533609774 0.00041
NM_004447.6(EPS8):c.2177C>T (p.Thr726Ile) rs150904526 0.00041
NM_016239.4(MYO15A):c.7068C>T (p.Asp2356=) rs373935449 0.00041
NM_017433.5(MYO3A):c.113T>C (p.Val38Ala) rs144518447 0.00041
NM_017433.5(MYO3A):c.3880A>G (p.Ile1294Val) rs56261037 0.00041
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_002241.5(KCNJ10):c.*2490G>A rs190897143 0.00040
NM_016239.4(MYO15A):c.3999C>T (p.Ala1333=) rs192570479 0.00040
NM_147196.3(TMIE):c.*148A>G rs190002988 0.00040
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_000441.2(SLC26A4):c.*2047A>G rs534409544 0.00039
NM_001256317.3(TMPRSS3):c.1272C>T (p.Cys424=) rs56178910 0.00039
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys) rs373151735 0.00039
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn) rs769059187 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_015404.4(WHRN):c.-483G>A rs886063374 0.00039
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262 0.00039
NM_016239.4(MYO15A):c.876C>T (p.Pro292=) rs368755362 0.00039
NM_017433.5(MYO3A):c.3584T>C (p.Val1195Ala) rs35675577 0.00039
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037 0.00038
NM_000441.2(SLC26A4):c.*780T>C rs527503006 0.00038
NM_001145809.2(MYH14):c.1419C>T (p.Arg473=) rs371946306 0.00038
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001378609.3(OTOGL):c.1395-3T>C rs374833540 0.00038
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg) rs199536893 0.00038
NM_002906.4(RDX):c.-91G>A rs140928713 0.00038
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280 0.00037
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001145809.2(MYH14):c.*738C>T rs540069517 0.00037
NM_001145809.2(MYH14):c.-4+8C>A rs778355560 0.00037
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) rs201515738 0.00037
NM_001199799.2(ILDR1):c.1184T>C (p.Leu395Ser) rs143311654 0.00037
NM_017433.5(MYO3A):c.3352A>G (p.Thr1118Ala) rs138955440 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413 0.00036
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146 0.00036
NM_001384140.1(PCDH15):c.4368-1519A>G rs532994771 0.00036
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser) rs200763838 0.00036
NM_005219.5(DIAPH1):c.2224C>G (p.Pro742Ala) rs199749212 0.00036
NM_016239.4(MYO15A):c.10403G>A (p.Arg3468Gln) rs200456053 0.00036
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00036
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala) rs201246214 0.00036
NM_016239.4(MYO15A):c.6743C>T (p.Ala2248Val) rs199831544 0.00036
NM_017433.5(MYO3A):c.3000-11T>C rs375346333 0.00036
NM_138691.3(TMC1):c.46G>A (p.Glu16Lys) rs140437301 0.00036
NM_194248.3(OTOF):c.1640C>T (p.Thr547Met) rs200191563 0.00036
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) rs571203897 0.00035
NM_001256317.3(TMPRSS3):c.*402C>T rs764929225 0.00035
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00035
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_014332.3(SMPX):c.*395T>G rs765339045 0.00035
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_016239.4(MYO15A):c.-144G>A rs751602395 0.00035
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) rs141473928 0.00035
NM_017433.4(MYO3A):c.-312G>A rs184554148 0.00035
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000441.2(SLC26A4):c.*51T>C rs371263685 0.00034
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_001080476.3(GRXCR1):c.*89G>A rs564643132 0.00034
NM_001145308.5(LRTOMT):c.-123T>C rs369105155 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe) rs200792636 0.00034
NM_002241.5(KCNJ10):c.*3158C>T rs777813628 0.00034
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His) rs146396982 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_005219.5(DIAPH1):c.687T>C (p.Phe229=) rs201149420 0.00034
NM_005982.4(SIX1):c.*755T>G rs868568764 0.00034
NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) rs145046338 0.00034
NM_147196.3(TMIE):c.102G>A (p.Thr34=) rs201107982 0.00034
NM_000260.4(MYO7A):c.2282+5G>A rs540145750 0.00033
NM_001379180.1(ESRRB):c.*3331C>T rs541309197 0.00033
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr) rs374299911 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00033
NM_017433.5(MYO3A):c.3932C>G (p.Thr1311Ser) rs146693681 0.00033
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00032
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001146079.2(CLDN14):c.-130G>A rs537704763 0.00032
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_002473.6(MYH9):c.*748A>G rs568025076 0.00032
NM_004999.4(MYO6):c.*263T>C rs552963186 0.00032
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_016239.4(MYO15A):c.3647G>A (p.Arg1216His) rs202148411 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_147196.3(TMIE):c.*829G>T rs576080937 0.00032
NM_194248.3(OTOF):c.157G>A (p.Ala53Thr) rs144915302 0.00032
NC_000007.14:g.107660670A>T rs111033440 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871 0.00031
NM_001145308.5(LRTOMT):c.*1363C>A rs759367241 0.00031
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) rs201268590 0.00031
NM_002906.4(RDX):c.*1201A>G rs181866368 0.00031
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_194248.3(OTOF):c.2859C>T (p.Val953=) rs77414333 0.00031
NM_194248.3(OTOF):c.4023+1G>A rs186810296 0.00031
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) rs142560436 0.00030
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=) rs367826075 0.00030
NM_001384474.1(LOXHD1):c.4504C>T (p.Arg1502Trp) rs200819355 0.00030
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) rs146184921 0.00030
NM_006005.3(WFS1):c.*300A>G rs541125786 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687 0.00030
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr) rs201033926 0.00030
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_139319.3(SLC17A8):c.*542G>A rs190631201 0.00030
NM_194248.3(OTOF):c.-89C>T rs576242306 0.00030
NM_194248.3(OTOF):c.1135G>A (p.Val379Met) rs141111646 0.00030
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.3925-8G>A rs367645097 0.00029
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln) rs138816005 0.00029
NM_001145809.2(MYH14):c.1026G>A (p.Pro342=) rs368124508 0.00029
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.6864A>G (p.Ile2288Met) rs145876584 0.00029
NM_001379180.1(ESRRB):c.*2751C>T rs533160995 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_002241.5(KCNJ10):c.*734C>T rs778432509 0.00029
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580 0.00029
NM_004004.6(GJB2):c.*423C>T rs112457424 0.00029
NM_004004.6(GJB2):c.*598C>A rs550600399 0.00029
NM_004999.4(MYO6):c.*1925A>G rs912042329 0.00029
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_004999.4(MYO6):c.*4446A>G rs148227849 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_016239.4(MYO15A):c.2045C>T (p.Pro682Leu) rs993096170 0.00029
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489 0.00029
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln) rs372768607 0.00028
NM_001145809.2(MYH14):c.838G>A (p.Val280Ile) rs202246093 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_153212.3(GJB4):c.109G>A (p.Val37Met) rs146378222 0.00028
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) rs141543499 0.00027
NM_005219.5(DIAPH1):c.*254G>A rs771538799 0.00027
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg) rs201679317 0.00027
NM_178335.3(CCDC50):c.227G>A (p.Arg76His) rs138443787 0.00027
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_001042702.5(PJVK):c.-22-6T>A rs144704250 0.00026
NM_001256317.3(TMPRSS3):c.*53G>A rs137903612 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001384474.1(LOXHD1):c.4180G>A (p.Val1394Met) rs368216643 0.00026
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207 0.00026
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005219.5(DIAPH1):c.*236T>C rs774939804 0.00026
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005982.4(SIX1):c.*736T>G rs768828257 0.00026
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_017433.5(MYO3A):c.2705A>C (p.Asn902Thr) rs142823078 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_194248.3(OTOF):c.154G>A (p.Val52Met) rs199992845 0.00026
NM_194248.3(OTOF):c.506G>A (p.Arg169Gln) rs149701372 0.00026
NM_001243133.2(NLRP3):c.638A>G (p.His213Arg) rs150396172 0.00025
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001379180.1(ESRRB):c.*3338C>T rs192712591 0.00025
NM_001384474.1(LOXHD1):c.1717G>A (p.Val573Ile) rs188554662 0.00025
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser) rs569121054 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002906.4(RDX):c.*740C>T rs558073403 0.00025
NM_004100.5(EYA4):c.*333G>A rs746964933 0.00025
NM_004999.4(MYO6):c.*1884A>C rs562636905 0.00025
NM_016239.4(MYO15A):c.7396-8C>G rs370351502 0.00025
NM_022124.6(CDH23):c.-55G>A rs939943382 0.00025
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000441.2(SLC26A4):c.*2093T>G rs542517353 0.00024
NM_001256317.3(TMPRSS3):c.212T>C (p.Phe71Ser) rs185332310 0.00024
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu) rs145232643 0.00024
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00024
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005422.4(TECTA):c.4633G>A (p.Val1545Ile) rs377156351 0.00024
NM_006005.3(WFS1):c.*455A>G rs756674774 0.00024
NM_015404.4(WHRN):c.-595G>A rs1030140507 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_016239.4(MYO15A):c.4142+6T>C rs368090576 0.00024
NM_017433.5(MYO3A):c.1170+15G>A rs764976663 0.00024
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala) rs150069992 0.00024
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr) rs138984845 0.00024
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp) rs142232146 0.00024
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr) rs11568530 0.00024
NM_194248.3(OTOF):c.*714A>T rs868381441 0.00024
NM_194248.3(OTOF):c.327+5G>T rs370643920 0.00024
NM_194248.3(OTOF):c.783C>T (p.Ile261=) rs556182666 0.00024
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_000441.2(SLC26A4):c.*36C>T rs764382402 0.00023
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00023
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001199799.2(ILDR1):c.866T>G (p.Leu289Trp) rs141450561 0.00023
NM_001256317.3(TMPRSS3):c.-36G>C rs186244930 0.00023
NM_001384474.1(LOXHD1):c.*19C>T rs778387862 0.00023
NM_001384474.1(LOXHD1):c.*73A>T rs748582582 0.00023
NM_002473.6(MYH9):c.*193C>T rs181364853 0.00023
NM_006005.3(WFS1):c.2314C>T (p.Arg772Cys) rs149540655 0.00023
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00023
NM_016239.4(MYO15A):c.3591G>A (p.Pro1197=) rs200222411 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_194248.3(OTOF):c.-54G>A rs571817012 0.00023
NM_000441.2(SLC26A4):c.*618A>G rs886061888 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001145308.5(LRTOMT):c.585C>T (p.Asp195=) rs373088272 0.00022
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001379180.1(ESRRB):c.952G>A (p.Asp318Asn) rs201344770 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_001384474.1(LOXHD1):c.2223C>T (p.Leu741=) rs199595156 0.00022
NM_001384474.1(LOXHD1):c.3924C>T (p.Tyr1308=) rs184966970 0.00022
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys) rs373848470 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_016239.4(MYO15A):c.6274-10C>T rs201459354 0.00022
NM_017433.5(MYO3A):c.4840C>T (p.Gln1614Ter) rs146106052 0.00022
NM_170682.4(P2RX2):c.381+2T>C rs200978001 0.00022
NM_182548.3(LHFPL5):c.-337G>T rs187215821 0.00022
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000260.4(MYO7A):c.6363G>A (p.Thr2121=) rs367738288 0.00021
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.2236-15G>A rs372776461 0.00021
NM_001145026.2(PTPRQ):c.6526G>A (p.Ala2176Thr) rs201371823 0.00021
NM_001145308.4(LRTOMT):c.-762C>A rs185830107 0.00021
NM_001145308.5(LRTOMT):c.*851G>A rs186960319 0.00021
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416 0.00021
NM_001146079.2(CLDN14):c.*66G>A rs369966830 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00021
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln) rs140779001 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001384474.1(LOXHD1):c.4877-15C>T rs138060208 0.00021
NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg) rs200330029 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004999.4(MYO6):c.*2996A>G rs536099586 0.00021
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_005219.5(DIAPH1):c.2070A>C (p.Pro690=) rs1215807447 0.00021
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn) rs202092043 0.00021
NM_016239.4(MYO15A):c.5055C>T (p.Ala1685=) rs201026034 0.00021
NM_016239.4(MYO15A):c.7266C>T (p.Pro2422=) rs201610682 0.00021
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) rs144008984 0.00021
NM_022124.6(CDH23):c.*56G>A rs756856139 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918 0.00021
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352 0.00021
NM_138691.3(TMC1):c.-252C>T rs541857536 0.00021
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_194248.3(OTOF):c.2252C>T (p.Thr751Met) rs727503359 0.00021
NM_000260.4(MYO7A):c.19-9C>T rs368452072 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) rs115738510 0.00020
NM_001145809.2(MYH14):c.*337C>T rs753307318 0.00020
NM_001256317.3(TMPRSS3):c.-78T>A rs557132994 0.00020
NM_001286445.3(RIPOR2):c.1164+482A>G rs745360194 0.00020
NM_001384474.1(LOXHD1):c.977A>G (p.Asn326Ser) rs188528174 0.00020
NM_002241.5(KCNJ10):c.*2649G>A rs886045399 0.00020
NM_002473.6(MYH9):c.*978A>G rs886057472 0.00020
NM_002473.6(MYH9):c.1098C>T (p.Pro366=) rs537679678 0.00020
NM_004100.5(EYA4):c.*2377C>T rs1205497819 0.00020
NM_004999.4(MYO6):c.*3660C>T rs774736565 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_016239.4(MYO15A):c.8708G>A (p.Arg2903Gln) rs200781310 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys) rs186961144 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_138691.3(TMC1):c.-124T>C rs533837914 0.00020
NM_144991.3(TSPEAR):c.1856+19C>T rs182590005 0.00020
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr) rs750153629 0.00019
NM_001042517.2(DIAPH3):c.357G>C (p.Glu119Asp) rs200771789 0.00019
NM_001146079.2(CLDN14):c.-634G>A rs886057056 0.00019
NM_001256317.3(TMPRSS3):c.*334G>A rs182472675 0.00019
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) rs199834829 0.00019
NM_001384474.1(LOXHD1):c.3013A>C (p.Asn1005His) rs552955487 0.00019
NM_002241.5(KCNJ10):c.*1788C>T rs550315680 0.00019
NM_002241.5(KCNJ10):c.*3170G>A rs886045395 0.00019
NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe) rs773510302 0.00019
NM_005219.5(DIAPH1):c.300+12A>G rs201535699 0.00019
NM_005982.4(SIX1):c.*1080A>T rs931132506 0.00019
NM_006005.3(WFS1):c.1123C>T (p.Arg375Cys) rs200095753 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_006005.3(WFS1):c.1820C>T (p.Pro607Leu) rs373862003 0.00019
NM_015404.4(WHRN):c.*187A>G rs779279060 0.00019
NM_015404.4(WHRN):c.*188A>T rs549537695 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_016239.4(MYO15A):c.*497G>C rs772855706 0.00019
NM_017433.5(MYO3A):c.3730T>C (p.Tyr1244His) rs148993025 0.00019
NM_022124.6(CDH23):c.-353C>G rs886047121 0.00019
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00018
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) rs781810349 0.00018
NM_001042702.5(PJVK):c.298G>A (p.Val100Ile) rs200516108 0.00018
NM_001080516.2(GRXCR2):c.580G>A (p.Glu194Lys) rs367826984 0.00018
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_002906.3(RDX):c.-305G>T rs886047657 0.00018
NM_002906.4(RDX):c.*1290A>G rs867786685 0.00018
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_004999.4(MYO6):c.*3834G>A rs886061779 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_016239.4(MYO15A):c.10077G>A (p.Pro3359=) rs367627564 0.00018
NM_016239.4(MYO15A):c.3012A>G (p.Ser1004=) rs376387472 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_022124.6(CDH23):c.68-3C>T rs142456469 0.00018
NM_022124.6(CDH23):c.9633+14G>A rs376672264 0.00018
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_194248.3(OTOF):c.5091G>A (p.Pro1697=) rs373568741 0.00018
NC_000007.14:g.107660720C>T rs879914861 0.00017
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754 0.00017
NM_000260.4(MYO7A):c.2598C>T (p.Arg866=) rs375968860 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001046.3(SLC12A2):c.41G>T (p.Gly14Val) rs1014756958 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001384474.1(LOXHD1):c.2036C>T (p.Ala679Val) rs370779024 0.00017
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln) rs376467400 0.00017
NM_002473.6(MYH9):c.*802T>G rs528245823 0.00017
NM_002764.4(PRPS1):c.*159G>A rs747334780 0.00017
NM_002906.4(RDX):c.1049G>A (p.Arg350His) rs377016439 0.00017
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004999.4(MYO6):c.*2346A>G rs745897280 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_005219.5(DIAPH1):c.301-5C>T rs190481949 0.00017
NM_005219.5(DIAPH1):c.343G>A (p.Glu115Lys) rs371994484 0.00017
NM_005219.5(DIAPH1):c.969A>G (p.Thr323=) rs369453319 0.00017
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) rs932191004 0.00017
NM_017433.5(MYO3A):c.4730+11A>C rs375717548 0.00017
NM_017433.5(MYO3A):c.656C>T (p.Thr219Met) rs377660409 0.00017
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile) rs200898204 0.00017
NM_022124.6(CDH23):c.9510+14G>A rs188563959 0.00017
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00017
NM_182548.4(LHFPL5):c.*431C>T rs866312688 0.00017
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000441.2(SLC26A4):c.*2237A>G rs562706485 0.00016
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_001038603.3(MARVELD2):c.1555-13A>G rs373638063 0.00016
NM_001042702.5(PJVK):c.-201C>G rs796484753 0.00016
NM_001042702.5(PJVK):c.794G>A (p.Arg265His) rs199841343 0.00016
NM_001080476.3(GRXCR1):c.331T>C (p.Tyr111His) rs201002003 0.00016
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001145308.4(LRTOMT):c.-526T>A rs190307646 0.00016
NM_001145308.5(LRTOMT):c.649C>T (p.Arg217Trp) rs72953778 0.00016
NM_001145308.5(LRTOMT):c.802C>T (p.His268Tyr) rs570166217 0.00016
NM_001145809.2(MYH14):c.3514C>A (p.Arg1172=) rs373919106 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001256317.3(TMPRSS3):c.*245C>T rs755324540 0.00016
NM_001378609.3(OTOGL):c.95C>T (p.Ser32Leu) rs760011677 0.00016
NM_001379180.1(ESRRB):c.*2373G>A rs186401013 0.00016
NM_001379180.1(ESRRB):c.1176C>T (p.His392=) rs370193367 0.00016
NM_001384474.1(LOXHD1):c.1639C>T (p.Arg547Cys) rs113444922 0.00016
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513 0.00016
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=) rs559560065 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384474.1(LOXHD1):c.868G>A (p.Gly290Arg) rs564030670 0.00016
NM_002241.5(KCNJ10):c.*73C>T rs184428585 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002700.3(POU4F3):c.513C>A (p.Ser171Arg) rs148985828 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_004700.4(KCNQ4):c.1232G>A (p.Arg411His) rs373727071 0.00016
NM_005219.5(DIAPH1):c.*870G>A rs558698891 0.00016
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00016
NM_005422.4(TECTA):c.420T>C (p.Ser140=) rs141090151 0.00016
NM_005422.4(TECTA):c.5586+12A>G rs199723136 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006005.3(WFS1):c.2494C>T (p.Arg832Cys) rs148089728 0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr) rs147724970 0.00016
NM_014042.3(ANAPC15):c.296C>T (p.Pro99Leu) rs531848254 0.00016
NM_016239.4(MYO15A):c.4207-12C>T rs374937158 0.00016
NM_016239.4(MYO15A):c.4596C>T (p.Thr1532=) rs188269446 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016239.4(MYO15A):c.6060C>T (p.Ala2020=) rs370091178 0.00016
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00016
NM_016366.3(CABP2):c.143A>C (p.Tyr48Ser) rs760234562 0.00016
NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met) rs149803315 0.00016
NM_022124.6(CDH23):c.2176+12C>T rs371967419 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_147196.3(TMIE):c.*671G>A rs868569513 0.00016
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) rs202178128 0.00016
NM_194248.3(OTOF):c.1035C>T (p.Tyr345=) rs138885901 0.00016
NM_194248.3(OTOF):c.5331C>T (p.Asp1777=) rs141082575 0.00016
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_000245.4(MET):c.40C>T (p.Leu14Phe) rs763344951 0.00015
NM_000441.2(SLC26A4):c.*1200G>A rs549659217 0.00015
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile) rs202227661 0.00015
NM_001145809.2(MYH14):c.1210+12G>A rs367560074 0.00015
NM_001145809.2(MYH14):c.3098C>T (p.Thr1033Met) rs201746408 0.00015
NM_001145809.2(MYH14):c.4666G>A (p.Ala1556Thr) rs758725143 0.00015
NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg) rs199583971 0.00015
NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) rs150731625 0.00015
NM_001243133.2(NLRP3):c.488A>G (p.Asn163Ser) rs199475733 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5350G>A (p.Val1784Met) rs571909899 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) rs958951917 0.00015
NM_002473.6(MYH9):c.543G>A (p.Thr181=) rs146514663 0.00015
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_005219.5(DIAPH1):c.*867G>A rs1044198282 0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala) rs201433617 0.00015
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_006005.3(WFS1):c.71G>A (p.Arg24His) rs71524364 0.00015
NM_015404.4(WHRN):c.-570C>G rs886073834 0.00015
NM_015404.4(WHRN):c.-581C>T rs886063377 0.00015
NM_016239.4(MYO15A):c.2287C>T (p.Arg763Trp) rs754311954 0.00015
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) rs546203218 0.00015
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly) rs199953758 0.00015
NM_016239.4(MYO15A):c.9072G>A (p.Gln3024=) rs371857911 0.00015
NM_017433.5(MYO3A):c.3398+3A>G rs373758358 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln) rs199918940 0.00014
NM_000441.2(SLC26A4):c.*409A>T rs752578836 0.00014
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00014
NM_001046.3(SLC12A2):c.235A>C (p.Ser79Arg) rs557916029 0.00014
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001145308.5(LRTOMT):c.*1544A>G rs912805774 0.00014
NM_001145308.5(LRTOMT):c.-322+5G>A rs767961368 0.00014
NM_001145308.5(LRTOMT):c.209G>A (p.Arg70Gln) rs188715129 0.00014
NM_001145809.2(MYH14):c.2331C>T (p.Ile777=) rs746261612 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001256317.3(TMPRSS3):c.789C>T (p.Tyr263=) rs147181936 0.00014
NM_001379180.1(ESRRB):c.*2287G>A rs372618689 0.00014
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys) rs200260213 0.00014
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly) rs1354495647 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_002764.4(PRPS1):c.*166G>A rs371265973 0.00014
NM_002764.4(PRPS1):c.*88C>T rs1057515726 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004100.5(EYA4):c.*2759G>A rs886061098 0.00014
NM_004100.5(EYA4):c.*308G>T rs999799440 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004999.4(MYO6):c.*4030G>A rs746829763 0.00014
NM_004999.4(MYO6):c.26C>T (p.Ala9Val) rs199508553 0.00014
NM_005219.5(DIAPH1):c.*1395C>T rs886060027 0.00014
NM_005219.5(DIAPH1):c.2846A>G (p.Gln949Arg) rs775424355 0.00014
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) rs769561057 0.00014
NM_006005.3(WFS1):c.-129A>G rs886059522 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys) rs144993516 0.00014
NM_016239.4(MYO15A):c.*535G>A rs935857548 0.00014
NM_016239.4(MYO15A):c.829C>T (p.His277Tyr) rs201541616 0.00014
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile) rs79745502 0.00014
NM_017433.5(MYO3A):c.1207A>G (p.Ser403Gly) rs375646552 0.00014
NM_017433.5(MYO3A):c.906G>A (p.Thr302=) rs139818474 0.00014
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_022124.6(CDH23):c.7362+14G>A rs78158757 0.00014
NM_022124.6(CDH23):c.8309-3C>T rs371910002 0.00014
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_147196.3(TMIE):c.*905G>A rs886058576 0.00014
NM_147196.3(TMIE):c.34G>T (p.Val12Leu) rs397517867 0.00014
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494 0.00014
NM_153700.2(STRC):c.3307-5T>G rs727503446 0.00014
NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) rs199603169 0.00014
NM_194248.3(OTOF):c.79+12G>A rs201241987 0.00014
NM_194323.3(OTOF):c.3600C>T (p.Ile1200=) rs145899319 0.00014
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001042702.5(PJVK):c.-112G>T rs886055208 0.00013
NM_001145809.2(MYH14):c.1229G>A (p.Arg410His) rs374720181 0.00013
NM_001145809.2(MYH14):c.2864G>A (p.Arg955Gln) rs576611342 0.00013
NM_001256317.3(TMPRSS3):c.*407A>T rs145515753 0.00013
NM_001256317.3(TMPRSS3):c.*411C>A rs140838491 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001256317.3(TMPRSS3):c.681G>A (p.Gln227=) rs201260442 0.00013
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001379180.1(ESRRB):c.*2926G>A rs767825224 0.00013
NM_001379180.1(ESRRB):c.190G>A (p.Gly64Ser) rs771730157 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val) rs199537178 0.00013
NM_001384474.1(LOXHD1):c.1303G>A (p.Asp435Asn) rs561064266 0.00013
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=) rs487706 0.00013
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=) rs376705239 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00013
NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln) rs377330985 0.00013
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_004086.3(COCH):c.*432T>C rs867385285 0.00013
NM_004100.5(EYA4):c.*379C>A rs1025660001 0.00013
NM_005219.5(DIAPH1):c.-27G>T rs749524827 0.00013
NM_005219.5(DIAPH1):c.3230C>G (p.Pro1077Arg) rs376593325 0.00013
NM_005422.4(TECTA):c.4317A>C (p.Leu1439=) rs146742726 0.00013
NM_005422.4(TECTA):c.762T>A (p.Ile254=) rs142743467 0.00013
NM_006005.3(WFS1):c.1492G>A (p.Val498Ile) rs71524358 0.00013
NM_016239.4(MYO15A):c.*68A>C rs775481182 0.00013
NM_016239.4(MYO15A):c.1602C>T (p.Phe534=) rs547305039 0.00013
NM_016239.4(MYO15A):c.447G>C (p.Ser149=) rs762721401 0.00013
NM_017433.5(MYO3A):c.*476G>A rs910475040 0.00013
NM_017433.5(MYO3A):c.1828A>G (p.Ile610Val) rs151254539 0.00013
NM_017433.5(MYO3A):c.3256G>A (p.Ala1086Thr) rs568909391 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=) rs552170649 0.00013
NM_138691.3(TMC1):c.795A>C (p.Thr265=) rs140398130 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000245.4(MET):c.289C>G (p.Pro97Ala) rs199736573 0.00012
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732 0.00012
NM_000441.2(SLC26A4):c.*1584dup rs886061890 0.00012
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile) rs111033527 0.00012
NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) rs139908851 0.00012
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00012
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=) rs370629848 0.00012
NM_001256317.3(TMPRSS3):c.*664C>T rs753514974 0.00012
NM_001256317.3(TMPRSS3):c.*805T>C rs771422917 0.00012
NM_001256317.3(TMPRSS3):c.1191+10C>T rs201451028 0.00012
NM_001379180.1(ESRRB):c.*2334G>A rs545818408 0.00012
NM_001384474.1(LOXHD1):c.3236A>G (p.Tyr1079Cys) rs367863703 0.00012
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu) rs372408513 0.00012
NM_002241.5(KCNJ10):c.*3617A>T rs754184905 0.00012
NM_002906.3(RDX):c.-290C>A rs886047655 0.00012
NM_002906.4(RDX):c.-133C>T rs553369693 0.00012
NM_004004.6(GJB2):c.*114T>C rs182085649 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys) rs139132568 0.00012
NM_006005.3(WFS1):c.1984T>C (p.Ser662Pro) rs376341411 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_016239.4(MYO15A):c.10420A>G (p.Ser3474Gly) rs150181830 0.00012
NM_016239.4(MYO15A):c.6720C>G (p.Ser2240=) rs367799231 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu) rs189442618 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_138691.3(TMC1):c.473G>A (p.Arg158His) rs148340276 0.00012
NM_182548.4(LHFPL5):c.*475C>T rs13205046 0.00012
NM_194248.3(OTOF):c.2180A>G (p.Asn727Ser) rs200654171 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_000245.4(MET):c.2378G>A (p.Arg793His) rs199643166 0.00011
NM_000245.4(MET):c.2684C>T (p.Thr895Met) rs199502137 0.00011
NM_000260.4(MYO7A):c.*100C>T rs758099500 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000260.4(MYO7A):c.3375+14C>A rs782500012 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578 0.00011
NM_000260.4(MYO7A):c.895G>A (p.Ala299Thr) rs372344870 0.00011
NM_000307.5(POU3F4):c.585A>G (p.Glu195=) rs202020213 0.00011
NM_000441.2(SLC26A4):c.*351G>A rs957299935 0.00011
NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) rs367611336 0.00011
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00011
NM_001039213.4(CEACAM16):c.1191C>A (p.Asp397Glu) rs543881691 0.00011
NM_001039876.3(SYNE4):c.601C>A (p.Leu201Met) rs200083160 0.00011
NM_001046.3(SLC12A2):c.788A>C (p.Glu263Ala) rs367694835 0.00011
NM_001145809.2(MYH14):c.1329+7G>A rs374953263 0.00011
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp) rs397516629 0.00011
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=) rs766728732 0.00011
NM_001145809.2(MYH14):c.5961-10C>T rs776693090 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001256317.3(TMPRSS3):c.1126G>A (p.Gly376Ser) rs371448615 0.00011
NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg) rs143762350 0.00011
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys) rs369682197 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001384474.1(LOXHD1):c.4089C>T (p.Ile1363=) rs370376314 0.00011
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg) rs370816148 0.00011
NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro) rs547733414 0.00011
NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr) rs375361490 0.00011
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) rs200272787 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002906.4(RDX):c.6G>A (p.Pro2=) rs202177331 0.00011
NM_003672.4(CDC14A):c.1251-5C>T rs375381230 0.00011
NM_004004.6(GJB2):c.*800A>G rs886050027 0.00011
NM_004100.5(EYA4):c.*1600G>A rs998755605 0.00011
NM_004999.4(MYO6):c.*3890G>A rs574818180 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_005219.5(DIAPH1):c.259G>A (p.Val87Ile) rs368889655 0.00011
NM_005219.5(DIAPH1):c.2924A>G (p.Asn975Ser) rs370849059 0.00011
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp) rs781577050 0.00011
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_006005.3(WFS1):c.-105T>G rs886059523 0.00011
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly) rs767561828 0.00011
NM_016239.4(MYO15A):c.5965-8C>T rs766643065 0.00011
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_016356.5(DCDC2):c.785C>T (p.Thr262Ile) rs200534758 0.00011
NM_017433.5(MYO3A):c.*239C>T rs977461628 0.00011
NM_017433.5(MYO3A):c.4140C>T (p.Val1380=) rs376559049 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_022124.6(CDH23):c.*85G>A rs886047144 0.00011
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_138691.3(TMC1):c.145A>C (p.Ile49Leu) rs149947445 0.00011
NM_138691.3(TMC1):c.2177C>T (p.Ala726Val) rs573874378 0.00011
NM_139319.3(SLC17A8):c.-88A>C rs780354237 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_182548.4(LHFPL5):c.*386A>T rs1056962421 0.00011
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu) rs181805996 0.00011
NM_194248.3(OTOF):c.1570G>A (p.Gly524Arg) rs146739635 0.00011
NM_194248.3(OTOF):c.1977G>A (p.Pro659=) rs145589784 0.00011
NM_194248.3(OTOF):c.2512C>T (p.Leu838=) rs146139327 0.00011
NM_194248.3(OTOF):c.328-11C>T rs369879663 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_000260.4(MYO7A):c.1201-12A>G rs542772429 0.00010
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131 0.00010
NM_000260.4(MYO7A):c.5373C>T (p.Ser1791=) rs376301325 0.00010
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354 0.00010
NM_000441.2(SLC26A4):c.*1466T>A rs749750914 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416 0.00010
NM_001038603.3(MARVELD2):c.*171G>A rs756878174 0.00010
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) rs139234053 0.00010
NM_001145308.5(LRTOMT):c.*1160T>C rs201099496 0.00010
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln) rs763472009 0.00010
NM_001145809.2(MYH14):c.5990C>T (p.Thr1997Met) rs201986144 0.00010
NM_001146079.2(CLDN14):c.-136G>A rs886057053 0.00010
NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) rs371106978 0.00010
NM_001243133.2(NLRP3):c.2686T>C (p.Ser896Pro) rs151205016 0.00010
NM_001256317.3(TMPRSS3):c.*287C>T rs757369320 0.00010
NM_001256317.3(TMPRSS3):c.*573C>T rs1042336424 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001286445.3(RIPOR2):c.1142C>G (p.Thr381Ser) rs765214729 0.00010
NM_001379180.1(ESRRB):c.*2639C>G rs886050807 0.00010
NM_001379180.1(ESRRB):c.*3018G>C rs575642098 0.00010
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys) rs773223976 0.00010
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) rs771007568 0.00010
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser) rs769490340 0.00010
NM_002241.5(KCNJ10):c.*171C>T rs539110996 0.00010
NM_002700.3(POU4F3):c.624G>A (p.Val208=) rs759713394 0.00010
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004100.5(EYA4):c.-124C>T rs886061088 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_005219.5(DIAPH1):c.*1533C>T rs542820984 0.00010
NM_005219.5(DIAPH1):c.3574+6G>C rs538555634 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026 0.00010
NM_012188.5(FOXI1):c.*679C>T rs966422889 0.00010
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) rs202161016 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) rs776712642 0.00010
NM_016239.4(MYO15A):c.-173T>A rs760728232 0.00010
NM_016239.4(MYO15A):c.6728C>T (p.Thr2243Met) rs753611930 0.00010
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) rs369717113 0.00010
NM_016239.4(MYO15A):c.9602G>A (p.Arg3201Gln) rs757095519 0.00010
NM_016356.5(DCDC2):c.770G>A (p.Arg257His) rs200233521 0.00010
NM_017433.5(MYO3A):c.4407T>C (p.Asn1469=) rs199843655 0.00010
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324 0.00010
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_144991.3(TSPEAR):c.1469T>A (p.Leu490Gln) rs781994662 0.00010
NM_144991.3(TSPEAR):c.533C>T (p.Pro178Leu) rs782685093 0.00010
NM_182548.4(LHFPL5):c.*385C>T rs567038240 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_194248.3(OTOF):c.4642G>A (p.Glu1548Lys) rs146982209 0.00010
NM_000245.4(MET):c.2318C>T (p.Pro773Leu) rs771333219 0.00009
NM_000245.4(MET):c.3236A>G (p.His1079Arg) rs758292223 0.00009
NM_000260.4(MYO7A):c.*142A>G rs369873505 0.00009
NM_000260.4(MYO7A):c.1970G>A (p.Arg657Gln) rs375457812 0.00009
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_000260.4(MYO7A):c.2915G>A (p.Arg972Gln) rs782426472 0.00009
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376 0.00009
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197 0.00009
NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) rs758921557 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) rs148416461 0.00009
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401 0.00009
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001127453.2(GSDME):c.635C>T (p.Pro212Leu) rs145754170 0.00009
NM_001128228.3(TPRN):c.770C>T (p.Pro257Leu) rs745997859 0.00009
NM_001145308.5(LRTOMT):c.650G>A (p.Arg217Gln) rs372524977 0.00009
NM_001145809.2(MYH14):c.1833C>T (p.Val611=) rs775077510 0.00009
NM_001145809.2(MYH14):c.4156A>T (p.Thr1386Ser) rs377462520 0.00009
NM_001145809.2(MYH14):c.4164G>A (p.Ala1388=) rs573932338 0.00009
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_001243133.2(NLRP3):c.1936G>T (p.Asp646Tyr) rs138061418 0.00009
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln) rs200378519 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001256317.3(TMPRSS3):c.616+5G>A rs138768408 0.00009
NM_001256317.3(TMPRSS3):c.856T>A (p.Leu286Met) rs147189374 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His) rs184173766 0.00009
NM_001384474.1(LOXHD1):c.1795T>C (p.Phe599Leu) rs776769626 0.00009
NM_001384474.1(LOXHD1):c.2839G>A (p.Asp947Asn) rs371808826 0.00009
NM_001384474.1(LOXHD1):c.5085+6G>A rs373466081 0.00009
NM_001384474.1(LOXHD1):c.5458A>T (p.Thr1820Ser) rs775871086 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489 0.00009
NM_002764.4(PRPS1):c.*762G>T rs768310830 0.00009
NM_002906.4(RDX):c.*2253C>T rs1264792297 0.00009
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys) rs146019940 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004086.3(COCH):c.266C>A (p.Pro89His) rs149903169 0.00009
NM_004999.4(MYO6):c.*4506T>C rs766637637 0.00009
NM_005219.5(DIAPH1):c.*533G>A rs886060031 0.00009
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu) rs750318437 0.00009
NM_005219.5(DIAPH1):c.3051G>A (p.Met1017Ile) rs373275414 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_006005.3(WFS1):c.1478T>C (p.Val493Ala) rs767366742 0.00009
NM_006005.3(WFS1):c.2248G>A (p.Ala750Thr) rs201335980 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) rs781583583 0.00009
NM_016239.4(MYO15A):c.1613G>A (p.Arg538His) rs552189642 0.00009
NM_016239.4(MYO15A):c.3757-13G>A rs370530786 0.00009
NM_016239.4(MYO15A):c.642C>T (p.Phe214=) rs766970263 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) rs201073816 0.00009
NM_016239.4(MYO15A):c.8528A>G (p.Lys2843Arg) rs201542989 0.00009
NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His) rs377389290 0.00009
NM_016239.4(MYO15A):c.9665G>A (p.Arg3222His) rs201712137 0.00009
NM_017433.5(MYO3A):c.4530C>T (p.Tyr1510=) rs139504940 0.00009
NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn) rs3737274 0.00009
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743 0.00009
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872 0.00009
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val) rs375018718 0.00009
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193 0.00009
NM_194248.3(OTOF):c.3746G>A (p.Arg1249Gln) rs200312028 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_194248.3(OTOF):c.5523C>T (p.Asp1841=) rs145894536 0.00009
NM_000245.4(MET):c.1669A>G (p.Thr557Ala) rs374733251 0.00008
NM_000245.4(MET):c.2543T>C (p.Val848Ala) rs587782205 0.00008
NM_000245.4(MET):c.280G>C (p.Asp94His) rs899151863 0.00008
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224 0.00008
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys) rs376169396 0.00008
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys) rs782276809 0.00008
NM_000260.4(MYO7A):c.3658C>G (p.Pro1220Ala) rs758332732 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331 0.00008
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg) rs368844392 0.00008
NM_001042702.5(PJVK):c.946A>C (p.Asn316His) rs776028922 0.00008
NM_001145026.2(PTPRQ):c.6603-3T>G rs1195593420 0.00008
NM_001145308.5(LRTOMT):c.784C>T (p.Arg262Cys) rs886048634 0.00008
NM_001145809.2(MYH14):c.*155T>C rs918532693 0.00008
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser) rs554966703 0.00008
NM_001256317.3(TMPRSS3):c.1344+8C>T rs368075894 0.00008
NM_001379180.1(ESRRB):c.177G>A (p.Ser59=) rs781612689 0.00008
NM_001379180.1(ESRRB):c.302C>T (p.Ala101Val) rs528723972 0.00008
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met) rs143090687 0.00008
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=) rs1444868169 0.00008
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp) rs876657859 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_002241.5(KCNJ10):c.*2554G>A rs773976668 0.00008
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys) rs751338154 0.00008
NM_002473.6(MYH9):c.4345-11C>G rs376040199 0.00008
NM_002906.4(RDX):c.1530C>T (p.Ser510=) rs192239366 0.00008
NM_004086.3(COCH):c.961-8C>T rs753785426 0.00008
NM_004100.5(EYA4):c.*3121A>G rs755881972 0.00008
NM_004999.4(MYO6):c.*311T>C rs886061765 0.00008
NM_005219.5(DIAPH1):c.1565C>T (p.Ala522Val) rs373896015 0.00008
NM_005219.5(DIAPH1):c.1571A>T (p.His524Leu) rs369527502 0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu) rs768743097 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_006005.3(WFS1):c.2134A>G (p.Ile712Val) rs574657627 0.00008
NM_012188.5(FOXI1):c.861C>G (p.Ala287=) rs145785746 0.00008
NM_016239.4(MYO15A):c.1418T>G (p.Leu473Arg) rs370497397 0.00008
NM_016239.4(MYO15A):c.3988C>T (p.Arg1330Cys) rs374131038 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.4807C>T (p.Leu1603=) rs368865502 0.00008
NM_016239.4(MYO15A):c.5473G>A (p.Val1825Met) rs368883957 0.00008
NM_016239.4(MYO15A):c.6795C>T (p.Thr2265=) rs78015149 0.00008
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778 0.00008
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_138691.3(TMC1):c.2245G>T (p.Ala749Ser) rs139102393 0.00008
NM_138691.3(TMC1):c.968A>G (p.Tyr323Cys) rs746724027 0.00008
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=) rs140537845 0.00008
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=) rs374356596 0.00008
NM_194248.3(OTOF):c.5623G>A (p.Val1875Met) rs370691004 0.00008
NM_000245.4(MET):c.1862C>T (p.Thr621Ile) rs375951814 0.00007
NM_000260.4(MYO7A):c.*101G>A rs886048683 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr) rs782787324 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000260.4(MYO7A):c.5665C>T (p.Leu1889=) rs778051833 0.00007
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001145308.4(LRTOMT):c.-705A>G rs886048621 0.00007
NM_001145809.2(MYH14):c.3883C>T (p.Arg1295Trp) rs372367091 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala) rs770791406 0.00007
NM_001256317.3(TMPRSS3):c.573-8C>T rs776871966 0.00007
NM_001256317.3(TMPRSS3):c.975G>T (p.Leu325=) rs397517379 0.00007
NM_001379180.1(ESRRB):c.*1556T>C rs180967093 0.00007
NM_001379180.1(ESRRB):c.689-10G>A rs534216019 0.00007
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met) rs367937228 0.00007
NM_001384474.1(LOXHD1):c.2327G>A (p.Arg776His) rs373559161 0.00007
NM_001384474.1(LOXHD1):c.3279C>T (p.His1093=) rs751278435 0.00007
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769 0.00007
NM_002160.4(TNC):c.2239C>T (p.Arg747Trp) rs776411890 0.00007
NM_002160.4(TNC):c.2960C>T (p.Thr987Met) rs778506429 0.00007
NM_002241.5(KCNJ10):c.*2520C>T rs886045401 0.00007
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_002473.6(MYH9):c.*195T>C rs771229879 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002906.3(RDX):c.-285A>G rs969963231 0.00007
NM_002906.4(RDX):c.-179C>T rs886047653 0.00007
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser) rs116769964 0.00007
NM_004100.5(EYA4):c.*1363G>A rs539858245 0.00007
NM_004100.5(EYA4):c.*15C>T rs773904240 0.00007
NM_004100.5(EYA4):c.*222G>A rs998303327 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser) rs202097537 0.00007
NM_004568.6(SERPINB6):c.1096G>A (p.Gly366Arg) rs765798757 0.00007
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) rs200053059 0.00007
NM_004999.4(MYO6):c.*1335G>A rs942079896 0.00007
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val) rs752510907 0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys) rs777195456 0.00007
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_006005.3(WFS1):c.1633G>A (p.Val545Met) rs201993978 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006005.3(WFS1):c.343G>A (p.Gly115Ser) rs780727054 0.00007
NM_015404.4(WHRN):c.-505C>T rs987306942 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_016239.4(MYO15A):c.4038+6_4038+7insTG rs759039332 0.00007
NM_016239.4(MYO15A):c.6689A>G (p.Asn2230Ser) rs375163839 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_017433.5(MYO3A):c.-146G>A rs929411495 0.00007
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_138691.3(TMC1):c.1263A>G (p.Pro421=) rs139985214 0.00007
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_144672.4(OTOA):c.268-677G>A rs931046043 0.00007
NM_147196.3(TMIE):c.174C>T (p.His58=) rs373379198 0.00007
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063 0.00007
NM_153676.4(USH1C):c.1415_1416insCTGAGACCCCCTGG (p.Val472_Ser473insTer) rs781176348 0.00007
NM_182548.4(LHFPL5):c.*487C>T rs945975159 0.00007
NM_194248.3(OTOF):c.5403G>A (p.Ala1801=) rs777088497 0.00007
NM_000245.4(MET):c.105G>C (p.Met35Ile) rs376244358 0.00006
NM_000245.4(MET):c.22G>A (p.Ala8Thr) rs758564871 0.00006
NM_000245.4(MET):c.4075G>A (p.Val1359Ile) rs752669237 0.00006
NM_000245.4(MET):c.818C>A (p.Thr273Asn) rs368144654 0.00006
NM_000260.4(MYO7A):c.*208C>G rs886048684 0.00006
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5186C>T (p.Thr1729Met) rs1367144630 0.00006
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330 0.00006
NM_000260.4(MYO7A):c.5749G>A (p.Glu1917Lys) rs780609120 0.00006
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val) rs761164010 0.00006
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His) rs761867896 0.00006
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His) rs372116042 0.00006
NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu) rs200511789 0.00006
NM_000601.6(HGF):c.724C>T (p.Arg242Trp) rs202185530 0.00006
NM_001038603.3(MARVELD2):c.*210A>G rs886060737 0.00006
NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) rs145027254 0.00006
NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) rs181575833 0.00006
NM_001042517.2(DIAPH3):c.2121A>C (p.Lys707Asn) rs776010269 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_001127453.2(GSDME):c.577-12T>G rs752065719 0.00006
NM_001145308.5(LRTOMT):c.222A>G (p.Ser74=) rs397516626 0.00006
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_001145809.2(MYH14):c.3772C>T (p.Arg1258Cys) rs201727916 0.00006
NM_001145809.2(MYH14):c.5802C>A (p.Asn1934Lys) rs745991888 0.00006
NM_001146079.2(CLDN14):c.-426C>T rs994615490 0.00006
NM_001146079.2(CLDN14):c.-436G>A rs543253636 0.00006
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) rs769599110 0.00006
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met) rs537705878 0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His) rs148150585 0.00006
NM_001256317.3(TMPRSS3):c.*692G>A rs886057090 0.00006
NM_001256317.3(TMPRSS3):c.-79A>G rs771866484 0.00006
NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met) rs145766262 0.00006
NM_001256317.3(TMPRSS3):c.213C>T (p.Phe71=) rs200937562 0.00006
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001376256.1(CRYM):c.761C>T (p.Ala254Val) rs727505275 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001379180.1(ESRRB):c.*1604G>A rs371116651 0.00006
NM_001384140.1(PCDH15):c.3555A>G (p.Ile1185Met) rs773283153 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys) rs200798008 0.00006
NM_001384474.1(LOXHD1):c.*94T>C rs181233520 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.3165C>T (p.Gly1055=) rs768431469 0.00006
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr) rs371252446 0.00006
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp) rs727503142 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001384474.1(LOXHD1):c.4376-6G>A rs369463541 0.00006
NM_001384474.1(LOXHD1):c.4389G>A (p.Ser1463=) rs375146333 0.00006
NM_001384474.1(LOXHD1):c.4740+13G>T rs570127242 0.00006
NM_001384474.1(LOXHD1):c.5400-7C>G rs376131738 0.00006
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg) rs727504988 0.00006
NM_001384474.1(LOXHD1):c.5772G>A (p.Ser1924=) rs375400056 0.00006
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr) rs727504544 0.00006
NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg) rs778228882 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_002241.5(KCNJ10):c.*1653T>C rs886045407 0.00006
NM_002241.5(KCNJ10):c.*2754G>C rs1027968987 0.00006
NM_002241.5(KCNJ10):c.*3074C>T rs181875026 0.00006
NM_002473.6(MYH9):c.*73C>T rs1045383138 0.00006
NM_002473.6(MYH9):c.1578C>G (p.Ala526=) rs201827299 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) rs139039608 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.5787C>T (p.Val1929=) rs367698156 0.00006
NM_002700.3(POU4F3):c.24G>A (p.Gln8=) rs764308870 0.00006
NM_002906.4(RDX):c.*1173A>G rs753716470 0.00006
NM_002906.4(RDX):c.*1579A>G rs772084374 0.00006
NM_002906.4(RDX):c.-76C>T rs886047652 0.00006
NM_002906.4(RDX):c.1251+14T>G rs376397960 0.00006
NM_002906.4(RDX):c.698+14T>C rs367814331 0.00006
NM_003672.4(CDC14A):c.1745G>A (p.Arg582His) rs148639495 0.00006
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004086.3(COCH):c.*342A>T rs913851990 0.00006
NM_004100.5(EYA4):c.*1812G>T rs555600336 0.00006
NM_004100.5(EYA4):c.*633G>A rs996978211 0.00006
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) rs200309400 0.00006
NM_004700.4(KCNQ4):c.665G>A (p.Gly222Asp) rs752658856 0.00006
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00006
NM_005219.5(DIAPH1):c.*701T>C rs886060030 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005219.5(DIAPH1):c.217G>A (p.Ala73Thr) rs184081055 0.00006
NM_005219.5(DIAPH1):c.2800C>T (p.Arg934Trp) rs200688040 0.00006
NM_005219.5(DIAPH1):c.627C>T (p.Tyr209=) rs369494682 0.00006
NM_005219.5(DIAPH1):c.80C>T (p.Pro27Leu) rs774909066 0.00006
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) rs61753849 0.00006
NM_005422.4(TECTA):c.1089G>T (p.Val363=) rs145913741 0.00006
NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) rs139269834 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) rs760328639 0.00006
NM_005422.4(TECTA):c.4594G>A (p.Asp1532Asn) rs199809873 0.00006
NM_005422.4(TECTA):c.5743A>C (p.Met1915Leu) rs749089815 0.00006
NM_005422.4(TECTA):c.6135C>T (p.Cys2045=) rs139552118 0.00006
NM_005982.4(SIX1):c.-161G>C rs886050573 0.00006
NM_005982.4(SIX1):c.-185T>C rs745791461 0.00006
NM_006005.3(WFS1):c.*654G>A rs886059539 0.00006
NM_006005.3(WFS1):c.1052A>G (p.Tyr351Cys) rs181988441 0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr) rs138771366 0.00006
NM_006005.3(WFS1):c.1366C>T (p.Arg456Cys) rs144452795 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys) rs201623184 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.2414G>A (p.Arg805Gln) rs140667597 0.00006
NM_006005.3(WFS1):c.2552T>G (p.Met851Arg) rs758613421 0.00006
NM_006005.3(WFS1):c.2602C>T (p.Arg868Cys) rs148611943 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006005.3(WFS1):c.638G>A (p.Gly213Glu) rs767957602 0.00006
NM_006005.3(WFS1):c.656T>C (p.Val219Ala) rs373662682 0.00006
NM_006005.3(WFS1):c.824C>G (p.Ala275Gly) rs769151204 0.00006
NM_006005.3(WFS1):c.862-3C>G rs201889635 0.00006
NM_015404.4(WHRN):c.*339C>A rs774074739 0.00006
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) rs369521178 0.00006
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335 0.00006
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) rs750834235 0.00006
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) rs200354989 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_016239.4(MYO15A):c.*747T>C rs138272762 0.00006
NM_016239.4(MYO15A):c.10083-4A>C rs550552225 0.00006
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) rs781006180 0.00006
NM_016239.4(MYO15A):c.381C>G (p.Leu127=) rs199520255 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu) rs368430972 0.00006
NM_016239.4(MYO15A):c.5210G>A (p.Arg1737Gln) rs369518617 0.00006
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933 0.00006
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) rs374951514 0.00006
NM_016239.4(MYO15A):c.6899A>C (p.Lys2300Thr) rs772965932 0.00006
NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) rs374160194 0.00006
NM_016239.4(MYO15A):c.9585C>T (p.Pro3195=) rs1007046371 0.00006
NM_016356.5(DCDC2):c.355C>T (p.Pro119Ser) rs1056029060 0.00006
NM_017433.5(MYO3A):c.1662-9T>A rs200678745 0.00006
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.2289C>T (p.Thr763=) rs770008354 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val) rs202203105 0.00006
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933 0.00006
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro) rs748917362 0.00006
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser) rs765609390 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_138691.3(TMC1):c.-220C>T rs1057515621 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138691.3(TMC1):c.339G>A (p.Met113Ile) rs397517840 0.00006
NM_139319.3(SLC17A8):c.*357A>G rs886048793 0.00006
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr) rs762876998 0.00006
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val) rs752140106 0.00006
NM_144492.2(CLDN14):c.*356T>C rs561126829 0.00006
NM_144672.4(OTOA):c.1440G>T (p.Gln480His) rs201185187 0.00006
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423 0.00006
NM_153676.4(USH1C):c.2269C>T (p.Arg757Cys) rs757163581 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser) rs377510653 0.00006
NM_182548.4(LHFPL5):c.*1010G>A rs527915117 0.00006
NM_194248.3(OTOF):c.2702C>T (p.Ser901Leu) rs200599474 0.00006
NM_194248.3(OTOF):c.3127-5G>A rs375186827 0.00006
NM_194248.3(OTOF):c.447G>A (p.Thr149=) rs151257291 0.00006
NM_000245.4(MET):c.1063G>A (p.Glu355Lys) rs561295443 0.00005
NM_000245.4(MET):c.1988C>T (p.Ser663Leu) rs376459715 0.00005
NM_000245.4(MET):c.2674G>A (p.Val892Ile) rs761243391 0.00005
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln) rs369312680 0.00005
NM_000260.4(MYO7A):c.1690+4C>T rs377741637 0.00005
NM_000260.4(MYO7A):c.1690+9G>T rs371146074 0.00005
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met) rs953533173 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His) rs782693893 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082 0.00005
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213 0.00005
NM_000260.4(MYO7A):c.3750+20C>T rs577104822 0.00005
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys) rs762836180 0.00005
NM_000260.4(MYO7A):c.5418C>T (p.Ala1806=) rs368749248 0.00005
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe) rs373957005 0.00005
NM_000260.4(MYO7A):c.874C>T (p.Arg292Trp) rs782505601 0.00005
NM_000441.1(SLC26A4):c.-186A>G rs555307083 0.00005
NM_000441.2(SLC26A4):c.*16G>T rs761754267 0.00005
NM_000441.2(SLC26A4):c.1110A>G (p.Val370=) rs886061886 0.00005
NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met) rs781300835 0.00005
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00005
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00005
NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) rs370737996 0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr) rs370890913 0.00005
NM_001042702.5(PJVK):c.*20G>A rs200368104 0.00005
NM_001042702.5(PJVK):c.-82C>T rs886055209 0.00005
NM_001042702.5(PJVK):c.216T>C (p.Ile72=) rs200686247 0.00005
NM_001145308.4(LRTOMT):c.-554G>A rs886048622 0.00005
NM_001145308.5(LRTOMT):c.276C>T (p.Pro92=) rs886048629 0.00005
NM_001145809.2(MYH14):c.3704C>T (p.Thr1235Met) rs200988515 0.00005
NM_001145809.2(MYH14):c.4220G>A (p.Arg1407His) rs553162373 0.00005
NM_001145809.2(MYH14):c.4510C>T (p.Leu1504=) rs765023094 0.00005
NM_001146079.2(CLDN14):c.-5G>A rs368231049 0.00005
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) rs368583838 0.00005
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) rs368026275 0.00005
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu) rs779920318 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001243133.2(NLRP3):c.1021G>A (p.Glu341Lys) rs369910640 0.00005
NM_001292063.2(OTOG):c.3521C>T (p.Pro1174Leu) rs775584403 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn) rs534951317 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001379180.1(ESRRB):c.*3220T>C rs376119931 0.00005
NM_001379180.1(ESRRB):c.577+15C>T rs765906060 0.00005
NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile) rs200784596 0.00005
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln) rs546893082 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001384474.1(LOXHD1):c.4734C>T (p.Tyr1578=) rs376338995 0.00005
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser) rs192929296 0.00005
NM_001384474.1(LOXHD1):c.6050-15C>T rs397517864 0.00005
NM_002241.5(KCNJ10):c.*2516C>T rs887195639 0.00005
NM_002473.6(MYH9):c.*1026C>G rs779365782 0.00005
NM_002473.6(MYH9):c.*539G>A rs533769148 0.00005
NM_002473.6(MYH9):c.*74G>A rs886057477 0.00005
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly) rs886057481 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met) rs149663189 0.00005
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567 0.00005
NM_002764.4(PRPS1):c.*538G>T rs1057515727 0.00005
NM_002906.4(RDX):c.*1284G>A rs74676538 0.00005
NM_002906.4(RDX):c.*2112A>G rs568502944 0.00005
NM_004004.6(GJB2):c.-22-18T>A rs778602324 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004086.3(COCH):c.*358G>A rs774390888 0.00005
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00005
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004700.4(KCNQ4):c.1193A>G (p.Glu398Gly) rs773975779 0.00005
NM_004700.4(KCNQ4):c.1342C>T (p.Arg448Trp) rs535365858 0.00005
NM_004700.4(KCNQ4):c.1499G>A (p.Arg500His) rs201025485 0.00005
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.966G>A (p.Thr322=) rs375754710 0.00005
NM_005219.5(DIAPH1):c.*811A>C rs891901311 0.00005
NM_005219.5(DIAPH1):c.1213A>G (p.Lys405Glu) rs551450387 0.00005
NM_005219.5(DIAPH1):c.1577A>G (p.Glu526Gly) rs187899184 0.00005
NM_005219.5(DIAPH1):c.1753G>C (p.Ala585Pro) rs200973081 0.00005
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val) rs200251893 0.00005
NM_005219.5(DIAPH1):c.3148+3G>A rs374140734 0.00005
NM_005219.5(DIAPH1):c.3314G>A (p.Arg1105Gln) rs770668053 0.00005
NM_005219.5(DIAPH1):c.579C>T (p.Asp193=) rs202061556 0.00005
NM_005219.5(DIAPH1):c.922A>G (p.Ile308Val) rs752555506 0.00005
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.2586C>G (p.Leu862=) rs374347076 0.00005
NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_005422.4(TECTA):c.5877G>C (p.Leu1959=) rs148742094 0.00005
NM_006005.3(WFS1):c.*158G>A rs548892128 0.00005
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys) rs759466443 0.00005
NM_006005.3(WFS1):c.1471G>A (p.Val491Met) rs143597170 0.00005
NM_006005.3(WFS1):c.1684G>A (p.Gly562Ser) rs753237278 0.00005
NM_006005.3(WFS1):c.1958G>A (p.Arg653His) rs199697430 0.00005
NM_006005.3(WFS1):c.2392G>A (p.Val798Ile) rs377712049 0.00005
NM_006005.3(WFS1):c.56C>T (p.Pro19Leu) rs376335216 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_015404.4(WHRN):c.*583C>T rs567156879 0.00005
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514 0.00005
NM_016239.4(MYO15A):c.10128G>A (p.Thr3376=) rs779726809 0.00005
NM_016239.4(MYO15A):c.2200G>A (p.Asp734Asn) rs1435631082 0.00005
NM_016239.4(MYO15A):c.4875+11C>T rs780276809 0.00005
NM_016239.4(MYO15A):c.530G>T (p.Gly177Val) rs772969960 0.00005
NM_016239.4(MYO15A):c.6012G>A (p.Pro2004=) rs764096773 0.00005
NM_016239.4(MYO15A):c.8170G>A (p.Glu2724Lys) rs142465521 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_016356.5(DCDC2):c.349G>A (p.Val117Ile) rs781510673 0.00005
NM_016356.5(DCDC2):c.445C>T (p.Leu149Phe) rs200595563 0.00005
NM_017433.5(MYO3A):c.3133G>A (p.Val1045Met) rs35447806 0.00005
NM_017433.5(MYO3A):c.848A>C (p.Gln283Pro) rs199541460 0.00005
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) rs753822806 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589 0.00005
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser) rs373164088 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.968G>A (p.Arg323His) rs181449189 0.00005
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp) rs745335831 0.00005
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg) rs745583797 0.00005
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_138691.3(TMC1):c.-481T>C rs757908231 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.1708G>A (p.Glu570Lys) rs369890353 0.00005
NM_147196.3(TMIE):c.366T>G (p.Asp122Glu) rs370899710 0.00005
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957 0.00005
NM_194248.3(OTOF):c.5477C>T (p.Ala1826Val) rs377197565 0.00005
NM_194248.3(OTOF):c.960G>A (p.Ser320=) rs141463872 0.00005
NC_000013.11:g.20193019G>A rs1417111166 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000245.4(MET):c.1132G>A (p.Val378Ile) rs749738523 0.00004
NM_000245.4(MET):c.142G>A (p.Ala48Thr) rs374050750 0.00004
NM_000245.4(MET):c.1984A>G (p.Ile662Val) rs765244598 0.00004
NM_000245.4(MET):c.2113A>G (p.Ser705Gly) rs781110968 0.00004
NM_000245.4(MET):c.2342A>C (p.Glu781Ala) rs771231484 0.00004
NM_000245.4(MET):c.2677T>A (p.Leu893Ile) rs376104371 0.00004
NM_000245.4(MET):c.2825C>T (p.Ser942Leu) rs375576430 0.00004
NM_000245.4(MET):c.2909G>A (p.Arg970His) rs45607832 0.00004
NM_000245.4(MET):c.3118T>C (p.Ser1040Pro) rs771328219 0.00004
NM_000245.4(MET):c.341A>T (p.Asp114Val) rs773659883 0.00004
NM_000245.4(MET):c.4016C>T (p.Ala1339Val) rs1453842331 0.00004
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr) rs768188910 0.00004
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141 0.00004
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala) rs369142107 0.00004
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.1797+13C>T rs782461418 0.00004
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln) rs781812509 0.00004
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888 0.00004
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His) rs199607235 0.00004
NM_000260.4(MYO7A):c.3375+12C>T rs781935881 0.00004
NM_000260.4(MYO7A):c.351G>T (p.Glu117Asp) rs886048671 0.00004
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076 0.00004
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116 0.00004
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140 0.00004
NM_000260.4(MYO7A):c.495G>A (p.Thr165=) rs532833627 0.00004
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654 0.00004
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu) rs757896867 0.00004
NM_000260.4(MYO7A):c.5374G>A (p.Val1792Ile) rs369424114 0.00004
NM_000260.4(MYO7A):c.5661G>A (p.Pro1887=) rs375627342 0.00004
NM_000260.4(MYO7A):c.5943C>T (p.Asp1981=) rs773907543 0.00004
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln) rs765083332 0.00004
NM_000441.2(SLC26A4):c.*1735C>T rs1003068818 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile) rs201689637 0.00004
NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg) rs372072732 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) rs202188305 0.00004
NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) rs556047320 0.00004
NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) rs141046438 0.00004
NM_001042702.5(PJVK):c.-64C>T rs886055210 0.00004
NM_001042702.5(PJVK):c.297C>T (p.Asp99=) rs375853744 0.00004
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509 0.00004
NM_001080476.3(GRXCR1):c.284G>C (p.Arg95Thr) rs775363257 0.00004
NM_001080476.3(GRXCR1):c.325G>A (p.Val109Ile) rs760182093 0.00004
NM_001080476.3(GRXCR1):c.49C>T (p.Arg17Trp) rs762049276 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001127453.2(GSDME):c.1121C>T (p.Pro374Leu) rs142107866 0.00004
NM_001127453.2(GSDME):c.75G>T (p.Leu25=) rs767060533 0.00004
NM_001128228.3(TPRN):c.1725+5G>A rs373827566 0.00004
NM_001128228.3(TPRN):c.691C>T (p.Arg231Trp) rs886044045 0.00004
NM_001145308.4(LRTOMT):c.-422T>C rs1042068599 0.00004
NM_001145308.4(LRTOMT):c.-453A>G rs1450426179 0.00004
NM_001145308.5(LRTOMT):c.*1116G>A rs375298971 0.00004
NM_001145308.5(LRTOMT):c.-344G>A rs886048626 0.00004
NM_001145308.5(LRTOMT):c.-57G>A rs145488053 0.00004
NM_001145308.5(LRTOMT):c.189G>A (p.Thr63=) rs556093010 0.00004
NM_001145308.5(LRTOMT):c.568G>A (p.Val190Met) rs886048631 0.00004
NM_001145308.5(LRTOMT):c.754C>T (p.Arg252Cys) rs370168246 0.00004
NM_001145308.5(LRTOMT):c.797G>A (p.Arg266His) rs776760828 0.00004
NM_001145809.2(MYH14):c.*144C>T rs773312540 0.00004
NM_001145809.2(MYH14):c.1779G>A (p.Pro593=) rs557237074 0.00004
NM_001145809.2(MYH14):c.2114G>A (p.Arg705Gln) rs770353210 0.00004
NM_001145809.2(MYH14):c.2248C>G (p.Pro750Ala) rs552485033 0.00004
NM_001145809.2(MYH14):c.2487G>A (p.Arg829=) rs746813925 0.00004
NM_001145809.2(MYH14):c.2988C>T (p.Ser996=) rs368160641 0.00004
NM_001145809.2(MYH14):c.3434G>A (p.Arg1145Gln) rs373207210 0.00004
NM_001145809.2(MYH14):c.3585G>A (p.Ala1195=) rs368190437 0.00004
NM_001145809.2(MYH14):c.3648G>A (p.Thr1216=) rs769824862 0.00004
NM_001145809.2(MYH14):c.3973C>T (p.Arg1325Trp) rs376705845 0.00004
NM_001145809.2(MYH14):c.4059G>A (p.Ala1353=) rs374065479 0.00004
NM_001145809.2(MYH14):c.4296C>T (p.Ser1432=) rs370811348 0.00004
NM_001145809.2(MYH14):c.5127+12C>T rs373755483 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys) rs767145914 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324 0.00004
NM_001243133.2(NLRP3):c.1090C>A (p.Arg364=) rs994458759 0.00004
NM_001243133.2(NLRP3):c.1625C>T (p.Thr542Met) rs199856287 0.00004
NM_001243133.2(NLRP3):c.2270G>C (p.Arg757Thr) rs201466599 0.00004
NM_001243133.2(NLRP3):c.329G>A (p.Ser110Asn) rs202050558 0.00004
NM_001256317.3(TMPRSS3):c.1077G>A (p.Ala359=) rs756432794 0.00004
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 0.00004
NM_001375524.1(TRRAP):c.8738G>A (p.Arg2913His) rs781498125 0.00004
NM_001378457.1(DMXL2):c.3108G>T (p.Glu1036Asp) rs376728796 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met) rs374871163 0.00004
NM_001384474.1(LOXHD1):c.1883G>A (p.Gly628Asp) rs138530758 0.00004
NM_001384474.1(LOXHD1):c.2227A>G (p.Thr743Ala) rs759325484 0.00004
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00004
NM_001384474.1(LOXHD1):c.246-14C>T rs139812523 0.00004
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=) rs755305237 0.00004
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp) rs397517861 0.00004
NM_001384474.1(LOXHD1):c.3016G>A (p.Glu1006Lys) rs868583953 0.00004
NM_001384474.1(LOXHD1):c.3515-13A>G rs545297878 0.00004
NM_001384474.1(LOXHD1):c.3896C>T (p.Thr1299Met) rs113591161 0.00004
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala) rs573953982 0.00004
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His) rs727505122 0.00004
NM_001384474.1(LOXHD1):c.4428G>A (p.Thr1476=) rs577112286 0.00004
NM_001384474.1(LOXHD1):c.4978A>G (p.Lys1660Glu) rs868705338 0.00004
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=) rs763569894 0.00004
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) rs1167683873 0.00004
NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp) rs199838861 0.00004
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met) rs368303635 0.00004
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=) rs200328459 0.00004
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe) rs563899816 0.00004
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_002241.5(KCNJ10):c.*1165G>A rs886045408 0.00004
NM_002241.5(KCNJ10):c.*2373C>T rs117037263 0.00004
NM_002241.5(KCNJ10):c.*3180G>C rs758537153 0.00004
NM_002241.5(KCNJ10):c.*868C>T rs753707600 0.00004
NM_002241.5(KCNJ10):c.*991A>G rs187278337 0.00004
NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln) rs766560083 0.00004
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002473.6(MYH9):c.4830C>T (p.Ala1610=) rs751904301 0.00004
NM_002473.6(MYH9):c.552C>T (p.Thr184=) rs764398831 0.00004
NM_002700.3(POU4F3):c.405G>A (p.Pro135=) rs145372405 0.00004
NM_002764.4(PRPS1):c.*423T>A rs1397267425 0.00004
NM_002764.4(PRPS1):c.*726C>T rs1012116674 0.00004
NM_002906.3(RDX):c.-221C>A rs886047654 0.00004
NM_002906.3(RDX):c.-291G>A rs1391986749 0.00004
NM_002906.4(RDX):c.*1358C>T rs766075876 0.00004
NM_004004.6(GJB2):c.*1040A>G rs1370756376 0.00004
NM_004004.6(GJB2):c.*236A>T rs922232025 0.00004
NM_004004.6(GJB2):c.*308G>A rs886090162 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004004.6(GJB2):c.318C>A (p.Phe106Leu) rs779358271 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004086.3(COCH):c.971G>A (p.Arg324Gln) rs748731866 0.00004
NM_004100.5(EYA4):c.*2049T>C rs752513150 0.00004
NM_004100.5(EYA4):c.*2360G>A rs886061094 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004999.4(MYO6):c.*1181G>A rs769731324 0.00004
NM_004999.4(MYO6):c.*1284T>G rs546877472 0.00004
NM_004999.4(MYO6):c.*2146A>C rs1005102784 0.00004
NM_004999.4(MYO6):c.*305T>C rs1050868572 0.00004
NM_004999.4(MYO6):c.*362A>G rs886061766 0.00004
NM_004999.4(MYO6):c.*692C>A rs1054285205 0.00004
NM_004999.4(MYO6):c.*860G>T rs570922846 0.00004
NM_004999.4(MYO6):c.1029C>T (p.Gly343=) rs752948085 0.00004
NM_004999.4(MYO6):c.2946+10T>C rs371745279 0.00004
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln) rs374966499 0.00004
NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn) rs773042864 0.00004
NM_005219.5(DIAPH1):c.*39G>A rs375612034 0.00004
NM_005219.5(DIAPH1):c.1915A>C (p.Ile639Leu) rs781398463 0.00004
NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) rs374788809 0.00004
NM_005219.5(DIAPH1):c.2273C>T (p.Pro758Leu) rs762969077 0.00004
NM_005219.5(DIAPH1):c.2414G>A (p.Arg805His) rs752824698 0.00004
NM_005219.5(DIAPH1):c.2795G>T (p.Arg932Leu) rs370578225 0.00004
NM_005219.5(DIAPH1):c.280G>C (p.Val94Leu) rs757339076 0.00004
NM_005219.5(DIAPH1):c.3175C>G (p.Leu1059Val) rs200394036 0.00004
NM_005219.5(DIAPH1):c.3671A>G (p.Lys1224Arg) rs376832359 0.00004
NM_005219.5(DIAPH1):c.3809G>A (p.Arg1270His) rs371664456 0.00004
NM_005219.5(DIAPH1):c.818A>G (p.Glu273Gly) rs756921782 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) rs374863954 0.00004
NM_005422.4(TECTA):c.2643C>T (p.Phe881=) rs544376595 0.00004
NM_005422.4(TECTA):c.5091G>A (p.Met1697Ile) rs200028435 0.00004
NM_005422.4(TECTA):c.5142C>T (p.Tyr1714=) rs151087951 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_005422.4(TECTA):c.80T>C (p.Leu27Pro) rs373248083 0.00004
NM_005982.4(SIX1):c.*1251A>G rs746385772 0.00004
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00004
NM_006005.3(WFS1):c.*506C>T rs886059536 0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys) rs373146435 0.00004
NM_006005.3(WFS1):c.1219C>T (p.His407Tyr) rs151244358 0.00004
NM_006005.3(WFS1):c.1220A>G (p.His407Arg) rs140407862 0.00004
NM_006005.3(WFS1):c.1264G>A (p.Ala422Thr) rs773280611 0.00004
NM_006005.3(WFS1):c.1393G>A (p.Ala465Thr) rs71524357 0.00004
NM_006005.3(WFS1):c.1480G>A (p.Gly494Ser) rs760692398 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.168C>T (p.Asp56=) rs112598170 0.00004
NM_006005.3(WFS1):c.1784C>T (p.Thr595Ile) rs148544389 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) rs138165486 0.00004
NM_006005.3(WFS1):c.2663C>T (p.Ser888Leu) rs547089139 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.613G>A (p.Gly205Ser) rs770713329 0.00004
NM_006383.4(CIB2):c.223G>A (p.Val75Met) rs758743502 0.00004
NM_012188.5(FOXI1):c.*418T>C rs886060402 0.00004
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) rs768008029 0.00004
NM_015404.4(WHRN):c.1626+8T>G rs547616329 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) rs773598909 0.00004
NM_016239.4(MYO15A):c.5526C>T (p.Ile1842=) rs370047914 0.00004
NM_016239.4(MYO15A):c.5603G>A (p.Arg1868His) rs374249526 0.00004
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016239.4(MYO15A):c.6255C>T (p.Ala2085=) rs747357971 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00004
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_016239.4(MYO15A):c.7502C>T (p.Thr2501Met) rs749920996 0.00004
NM_016239.4(MYO15A):c.7582A>G (p.Lys2528Glu) rs768607209 0.00004
NM_016239.4(MYO15A):c.7763G>A (p.Arg2588Gln) rs774663892 0.00004
NM_016239.4(MYO15A):c.917G>A (p.Gly306Asp) rs770104934 0.00004
NM_016239.4(MYO15A):c.9329G>A (p.Arg3110Gln) rs199900657 0.00004
NM_016239.4(MYO15A):c.9518-10G>A rs570587230 0.00004
NM_016239.4(MYO15A):c.9755A>G (p.Asn3252Ser) rs750974612 0.00004
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_016356.5(DCDC2):c.1237G>A (p.Gly413Ser) rs771499861 0.00004
NM_017433.5(MYO3A):c.*354A>G rs1034610594 0.00004
NM_017433.5(MYO3A):c.3085G>A (p.Asp1029Asn) rs56403976 0.00004
NM_017433.5(MYO3A):c.3337G>A (p.Val1113Ile) rs770255390 0.00004
NM_017433.5(MYO3A):c.991C>T (p.Arg331Ter) rs749269594 0.00004
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00004
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.205G>A (p.Val69Met) rs563224115 0.00004
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674 0.00004
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) rs749105554 0.00004
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=) rs369559033 0.00004
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) rs781280613 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=) rs761613739 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) rs754761193 0.00004
NM_022124.6(CDH23):c.8064+13C>A rs374981343 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652 0.00004
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712 0.00004
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726 0.00004
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) rs776346516 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp) rs1434063011 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr) rs146900529 0.00004
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) rs558224212 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_138691.3(TMC1):c.*302A>G rs1055361532 0.00004
NM_138691.3(TMC1):c.1567-14T>G rs727503485 0.00004
NM_138691.3(TMC1):c.956C>G (p.Thr319Ser) rs142629075 0.00004
NM_139319.3(SLC17A8):c.*178G>A rs878879094 0.00004
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala) rs138232575 0.00004
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys) rs374159026 0.00004
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552 0.00004
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=) rs748076639 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_147196.3(TMIE):c.413C>T (p.Ala138Val) rs746977901 0.00004
NM_153676.4(USH1C):c.1793G>A (p.Arg598His) rs767863235 0.00004
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947 0.00004
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875 0.00004
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr) rs372227474 0.00004
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111 0.00004
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877 0.00004
NM_194248.3(OTOF):c.*610C>T rs376374054 0.00004
NM_194248.3(OTOF):c.1149G>C (p.Gly383=) rs142219516 0.00004
NM_194248.3(OTOF):c.1317T>C (p.Asn439=) rs201171459 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.2419C>A (p.Gln807Lys) rs750423841 0.00004
NM_194248.3(OTOF):c.2877G>A (p.Ala959=) rs111033424 0.00004
NM_194248.3(OTOF):c.2956C>T (p.Arg986Cys) rs201198797 0.00004
NM_194248.3(OTOF):c.4092C>G (p.Gly1364=) rs779854387 0.00004
NM_194248.3(OTOF):c.4375G>A (p.Val1459Met) rs749384668 0.00004
NM_194248.3(OTOF):c.4924G>A (p.Val1642Ile) rs146552124 0.00004
NM_194248.3(OTOF):c.5460C>T (p.Thr1820=) rs148749290 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_000245.4(MET):c.1408T>A (p.Ser470Thr) rs1484724510 0.00003
NM_000245.4(MET):c.1510G>T (p.Val504Phe) rs587780735 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.2325G>T (p.Met775Ile) rs748086754 0.00003
NM_000245.4(MET):c.2555T>A (p.Met852Lys) rs369758288 0.00003
NM_000245.4(MET):c.3221G>A (p.Ser1074Asn) rs752641437 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000245.4(MET):c.762A>C (p.Glu254Asp) rs760278126 0.00003
NM_000245.4(MET):c.788C>T (p.Thr263Met) rs764052874 0.00003
NM_000260.4(MYO7A):c.-160G>A rs576789908 0.00003
NM_000260.4(MYO7A):c.-170C>T rs886048667 0.00003
NM_000260.4(MYO7A):c.-20G>A rs886048668 0.00003
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676 0.00003
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355 0.00003
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339 0.00003
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) rs1007895502 0.00003
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His) rs868977760 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710 0.00003
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308 0.00003
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345 0.00003
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn) rs370601111 0.00003
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917 0.00003
NM_000260.4(MYO7A):c.4842C>A (p.Asn1614Lys) rs749146420 0.00003
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012 0.00003
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys) rs777954362 0.00003
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu) rs572959359 0.00003
NM_000260.4(MYO7A):c.593-4G>A rs876657534 0.00003
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869 0.00003
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) rs770657036 0.00003
NM_000441.2(SLC26A4):c.*1068T>C rs1017422930 0.00003
NM_000441.2(SLC26A4):c.*1982C>A rs138245836 0.00003
NM_000441.2(SLC26A4):c.*2307A>G rs576278412 0.00003
NM_000441.2(SLC26A4):c.*343C>A rs139104953 0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) rs747431002 0.00003
NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp) rs1035397261 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His) rs200779286 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_001038603.3(MARVELD2):c.*121C>T rs886060735 0.00003
NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) rs376627126 0.00003
NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) rs727503161 0.00003
NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) rs149176039 0.00003
NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) rs770894315 0.00003
NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val) rs767827863 0.00003
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) rs750078356 0.00003
NM_001042702.5(PJVK):c.-124G>A rs886055207 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001080476.3(GRXCR1):c.*69T>A rs796495255 0.00003
NM_001080476.3(GRXCR1):c.236G>A (p.Ser79Asn) rs886059416 0.00003
NM_001080476.3(GRXCR1):c.289G>A (p.Val97Ile) rs186041671 0.00003
NM_001080476.3(GRXCR1):c.551A>T (p.Glu184Val) rs886059417 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001127453.2(GSDME):c.1156G>A (p.Ala386Thr) rs371802634 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_001128228.3(TPRN):c.1936G>A (p.Glu646Lys) rs370001536 0.00003
NM_001135022.2(ELMOD3):c.701C>T (p.Ala234Val) rs779560360 0.00003
NM_001145308.4(LRTOMT):c.-379T>C rs886048625 0.00003
NM_001145308.5(LRTOMT):c.*580C>T rs1416416166 0.00003
NM_001145308.5(LRTOMT):c.780T>G (p.Cys260Trp) rs886048633 0.00003
NM_001145809.2(MYH14):c.*400T>C rs886054596 0.00003
NM_001145809.2(MYH14):c.*64G>A rs779130953 0.00003
NM_001145809.2(MYH14):c.*667G>A rs886054599 0.00003
NM_001145809.2(MYH14):c.1160C>T (p.Ala387Val) rs201762439 0.00003
NM_001145809.2(MYH14):c.1381C>T (p.Arg461Cys) rs752732851 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.1800C>T (p.Ala600=) rs745625855 0.00003
NM_001145809.2(MYH14):c.3259C>T (p.Arg1087Trp) rs368372273 0.00003
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) rs794729639 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys) rs755704452 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001145809.2(MYH14):c.4107C>T (p.Ser1369=) rs372927021 0.00003
NM_001145809.2(MYH14):c.4539+10C>T rs561531825 0.00003
NM_001145809.2(MYH14):c.5303G>A (p.Arg1768Gln) rs368770587 0.00003
NM_001146079.2(CLDN14):c.-445G>A rs557217395 0.00003
NM_001146079.2(CLDN14):c.-46G>A rs779699092 0.00003
NM_001146079.2(CLDN14):c.-54G>A rs886057051 0.00003
NM_001146079.2(CLDN14):c.-82+2044A>C rs1430528784 0.00003
NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) rs763846537 0.00003
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) rs761666704 0.00003
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val) rs1192131861 0.00003
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu) rs1159971280 0.00003
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys) rs769751880 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys) rs372337277 0.00003
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys) rs886051845 0.00003
NM_001199107.2(TBC1D24):c.731C>T (p.Ala244Val) rs375873110 0.00003
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267 0.00003
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met) rs370233833 0.00003
NM_001243133.2(NLRP3):c.1669A>G (p.Thr557Ala) rs180177461 0.00003
NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val) rs745564372 0.00003
NM_001243133.2(NLRP3):c.403C>T (p.Arg135Cys) rs201525433 0.00003
NM_001256317.3(TMPRSS3):c.*540G>A rs144138830 0.00003
NM_001256317.3(TMPRSS3):c.*81C>T rs766378265 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001256317.3(TMPRSS3):c.161T>C (p.Ile54Thr) rs142317371 0.00003
NM_001379180.1(ESRRB):c.*2912G>A rs886050808 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg) rs778508372 0.00003
NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) rs370933593 0.00003
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met) rs770710016 0.00003
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys) rs535637788 0.00003
NM_001384474.1(LOXHD1):c.2174A>G (p.Asn725Ser) rs141137527 0.00003
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val) rs876657858 0.00003
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn) rs747038125 0.00003
NM_001384474.1(LOXHD1):c.2851G>A (p.Glu951Lys) rs138190875 0.00003
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg) rs1353205519 0.00003
NM_001384474.1(LOXHD1):c.3847G>A (p.Glu1283Lys) rs373541883 0.00003
NM_001384474.1(LOXHD1):c.4657G>A (p.Glu1553Lys) rs185142131 0.00003
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile) rs367623969 0.00003
NM_001384474.1(LOXHD1):c.5929C>T (p.Arg1977Cys) rs886053824 0.00003
NM_001384474.1(LOXHD1):c.5931C>T (p.Arg1977=) rs748789925 0.00003
NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser) rs1005361609 0.00003
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly) rs572863376 0.00003
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 0.00003
NM_002241.5(KCNJ10):c.*1855T>C rs886045405 0.00003
NM_002241.5(KCNJ10):c.*347C>T rs777312868 0.00003
NM_002241.5(KCNJ10):c.*3770C>T rs886045394 0.00003
NM_002473.6(MYH9):c.-153C>T rs886057485 0.00003
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.1899C>T (p.Pro633=) rs749696998 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) rs199971000 0.00003
NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) rs574230328 0.00003
NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) rs199693307 0.00003
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) rs373384951 0.00003
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) rs757547632 0.00003
NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys) rs143972348 0.00003
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) rs547770783 0.00003
NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) rs1205219578 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_002473.6(MYH9):c.585G>A (p.Ala195=) rs374395918 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_002906.4(RDX):c.*855T>C rs752002973 0.00003
NM_004004.6(GJB2):c.-7G>A rs398123813 0.00003
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly) rs201839979 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004086.3(COCH):c.1478-10T>C rs371990593 0.00003
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00003
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.970+5A>G rs886061089 0.00003
NM_004403.3(GSDME):c.-216C>T rs886062228 0.00003
NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) rs367890569 0.00003
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) rs766877660 0.00003
NM_004999.4(MYO6):c.*3029A>G rs886061775 0.00003
NM_004999.4(MYO6):c.*3973A>G rs886061780 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_004999.4(MYO6):c.406C>A (p.Arg136=) rs758630450 0.00003
NM_005219.5(DIAPH1):c.1018C>A (p.Arg340Ser) rs754730261 0.00003
NM_005219.5(DIAPH1):c.1019G>A (p.Arg340His) rs751381728 0.00003
NM_005219.5(DIAPH1):c.1287G>C (p.Gln429His) rs748159908 0.00003
NM_005219.5(DIAPH1):c.1796C>T (p.Pro599Leu) rs1266407564 0.00003
NM_005219.5(DIAPH1):c.1853C>T (p.Pro618Leu) rs1383273883 0.00003
NM_005219.5(DIAPH1):c.194A>G (p.Asn65Ser) rs954518752 0.00003
NM_005219.5(DIAPH1):c.2141C>T (p.Pro714Leu) rs760797227 0.00003
NM_005219.5(DIAPH1):c.2261G>A (p.Gly754Glu) rs565706367 0.00003
NM_005219.5(DIAPH1):c.234T>G (p.Asp78Glu) rs1292590118 0.00003
NM_005219.5(DIAPH1):c.2354C>T (p.Ser785Phe) rs532205362 0.00003
NM_005219.5(DIAPH1):c.2545T>A (p.Leu849Ile) rs745960805 0.00003
NM_005219.5(DIAPH1):c.3322C>T (p.His1108Tyr) rs749063652 0.00003
NM_005219.5(DIAPH1):c.560G>C (p.Gly187Ala) rs376465188 0.00003
NM_005219.5(DIAPH1):c.621-4A>G rs772123724 0.00003
NM_005219.5(DIAPH1):c.628G>A (p.Asp210Asn) rs749058990 0.00003
NM_005422.4(TECTA):c.1420C>T (p.Arg474Cys) rs756326790 0.00003
NM_005422.4(TECTA):c.1794G>C (p.Pro598=) rs570667892 0.00003
NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) rs909980690 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser) rs774697277 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.5878T>C (p.Tyr1960His) rs370139221 0.00003
NM_005422.4(TECTA):c.851G>A (p.Arg284His) rs886047837 0.00003
NM_005548.3(KARS1):c.797T>C (p.Ile266Thr) rs762673443 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_005982.4(SIX1):c.822C>T (p.Pro274=) rs368353344 0.00003
NM_006005.3(WFS1):c.*605T>C rs886059538 0.00003
NM_006005.3(WFS1):c.*700C>A rs528424908 0.00003
NM_006005.3(WFS1):c.-106A>G rs868329184 0.00003
NM_006005.3(WFS1):c.-133G>T rs886059521 0.00003
NM_006005.3(WFS1):c.1216G>A (p.Ala406Thr) rs942866942 0.00003
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser) rs544933961 0.00003
NM_006005.3(WFS1):c.1717C>G (p.Leu573Val) rs749172015 0.00003
NM_006005.3(WFS1):c.1883C>T (p.Thr628Met) rs368236000 0.00003
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser) rs763020615 0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly) rs143280847 0.00003
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr) rs775216682 0.00003
NM_006005.3(WFS1):c.226G>A (p.Gly76Ser) rs566587586 0.00003
NM_006005.3(WFS1):c.2290C>G (p.Pro764Ala) rs377102310 0.00003
NM_006005.3(WFS1):c.2560C>T (p.Leu854Phe) rs771391168 0.00003
NM_006005.3(WFS1):c.817G>A (p.Glu273Lys) rs142428158 0.00003
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) rs546948362 0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu) rs727504730 0.00003
NM_006005.3(WFS1):c.991T>A (p.Phe331Ile) rs144888979 0.00003
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_014332.3(SMPX):c.-103C>T rs1301418010 0.00003
NM_015404.4(WHRN):c.*149A>G rs563858014 0.00003
NM_015404.4(WHRN):c.-23C>G rs770413185 0.00003
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) rs143464875 0.00003
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) rs760261757 0.00003
NM_015404.4(WHRN):c.762C>T (p.His254=) rs201171374 0.00003
NM_016239.4(MYO15A):c.10555C>T (p.Arg3519Trp) rs771116631 0.00003
NM_016239.4(MYO15A):c.1261C>T (p.Pro421Ser) rs762439635 0.00003
NM_016239.4(MYO15A):c.1688G>T (p.Arg563Leu) rs766250103 0.00003
NM_016239.4(MYO15A):c.2855G>A (p.Gly952Asp) rs779295118 0.00003
NM_016239.4(MYO15A):c.3623G>A (p.Arg1208His) rs778112788 0.00003
NM_016239.4(MYO15A):c.3640C>A (p.Arg1214=) rs201056676 0.00003
NM_016239.4(MYO15A):c.3807A>G (p.Gly1269=) rs766863440 0.00003
NM_016239.4(MYO15A):c.3891C>T (p.Leu1297=) rs369087707 0.00003
NM_016239.4(MYO15A):c.5224C>T (p.Leu1742Phe) rs776340062 0.00003
NM_016239.4(MYO15A):c.5354T>C (p.Met1785Thr) rs775363115 0.00003
NM_016239.4(MYO15A):c.773A>C (p.Glu258Ala) rs368814566 0.00003
NM_016239.4(MYO15A):c.8225-13T>C rs748943724 0.00003
NM_016239.4(MYO15A):c.8334C>T (p.Pro2778=) rs545645668 0.00003
NM_016239.4(MYO15A):c.8651C>T (p.Ala2884Val) rs199864860 0.00003
NM_016239.4(MYO15A):c.9912C>T (p.Phe3304=) rs199560726 0.00003
NM_016356.5(DCDC2):c.1100C>T (p.Ser367Leu) rs757670255 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_016366.3(CABP2):c.3G>A (p.Met1Ile) rs1354716315 0.00003
NM_017433.5(MYO3A):c.*195C>T rs980105067 0.00003
NM_017433.5(MYO3A):c.*327G>A rs886046928 0.00003
NM_017433.5(MYO3A):c.1562T>C (p.Ile521Thr) rs886046921 0.00003
NM_017433.5(MYO3A):c.1583T>C (p.Ile528Thr) rs886046922 0.00003
NM_017433.5(MYO3A):c.2089T>G (p.Leu697Val) rs753357658 0.00003
NM_017433.5(MYO3A):c.2115-10A>G rs200205050 0.00003
NM_017433.5(MYO3A):c.233T>G (p.Val78Gly) rs377015132 0.00003
NM_017433.5(MYO3A):c.2999G>A (p.Arg1000Gln) rs755548787 0.00003
NM_017433.5(MYO3A):c.3035C>T (p.Pro1012Leu) rs146852484 0.00003
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452 0.00003
NM_017433.5(MYO3A):c.3993C>T (p.Val1331=) rs373422750 0.00003
NM_017433.5(MYO3A):c.4505T>G (p.Leu1502Ter) rs754217606 0.00003
NM_022124.6(CDH23):c.*83G>A rs886047143 0.00003
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) rs774716336 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418 0.00003
NM_022124.6(CDH23):c.559G>A (p.Val187Ile) rs369624952 0.00003
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) rs750798211 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_024915.4(GRHL2):c.1081G>A (p.Val361Met) rs770962467 0.00003
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln) rs552715518 0.00003
NM_033056.4(PCDH15):c.4462_4469dup (p.Glu1491fs) rs774056663 0.00003
NM_138691.3(TMC1):c.*26G>C rs191962062 0.00003
NM_138691.3(TMC1):c.-385G>A rs939516320 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138691.3(TMC1):c.910G>A (p.Gly304Arg) rs1008565149 0.00003
NM_139319.3(SLC17A8):c.*244G>A rs886048791 0.00003
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn) rs199746996 0.00003
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=) rs372662765 0.00003
NM_144672.4(OTOA):c.3188C>G (p.Pro1063Arg) rs1377749598 0.00003
NM_147196.3(TMIE):c.*687C>T rs886058575 0.00003
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp) rs200428926 0.00003
NM_182548.4(LHFPL5):c.*516T>A rs1412945427 0.00003
NM_182548.4(LHFPL5):c.-161A>G rs886061342 0.00003
NM_182548.4(LHFPL5):c.-30G>C rs375993440 0.00003
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) rs886061344 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_194248.3(OTOF):c.*769G>C rs1157863176 0.00003
NM_194248.3(OTOF):c.*770T>A rs886055872 0.00003
NM_194248.3(OTOF):c.-64G>A rs886055881 0.00003
NM_194248.3(OTOF):c.1713G>A (p.Leu571=) rs397517935 0.00003
NM_194248.3(OTOF):c.2168G>A (p.Arg723His) rs754009907 0.00003
NM_194248.3(OTOF):c.2605G>T (p.Asp869Tyr) rs886055877 0.00003
NM_194248.3(OTOF):c.4908G>A (p.Val1636=) rs769992835 0.00003
NM_194248.3(OTOF):c.4996T>C (p.Leu1666=) rs199854846 0.00003
NM_194248.3(OTOF):c.660G>A (p.Ser220=) rs745785393 0.00003
NM_000245.4(MET):c.1081G>T (p.Ala361Ser) rs786202310 0.00002
NM_000245.4(MET):c.1234C>T (p.Arg412Cys) rs367628460 0.00002
NM_000245.4(MET):c.13G>A (p.Ala5Thr) rs765444467 0.00002
NM_000245.4(MET):c.1532C>T (p.Thr511Met) rs371124109 0.00002
NM_000245.4(MET):c.1636G>A (p.Val546Met) rs774462373 0.00002
NM_000245.4(MET):c.2377C>T (p.Arg793Cys) rs45440991 0.00002
NM_000245.4(MET):c.2455G>A (p.Ala819Thr) rs786203672 0.00002
NM_000245.4(MET):c.2723A>G (p.Asn908Ser) rs1478309975 0.00002
NM_000245.4(MET):c.2755G>A (p.Val919Ile) rs759522148 0.00002
NM_000245.4(MET):c.3199C>A (p.Gln1067Lys) rs45628136 0.00002
NM_000245.4(MET):c.3296A>G (p.Asp1099Gly) rs780431412 0.00002
NM_000245.4(MET):c.3880G>A (p.Val1294Ile) rs1263785859 0.00002
NM_000245.4(MET):c.4011A>G (p.Ile1337Met) rs376418811 0.00002
NM_000245.4(MET):c.4060G>A (p.Ala1354Thr) rs761522694 0.00002
NM_000245.4(MET):c.4090C>T (p.Pro1364Ser) rs765332671 0.00002
NM_000245.4(MET):c.743A>T (p.Lys248Met) rs769181927 0.00002
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 0.00002
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln) rs782410686 0.00002
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520 0.00002
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro) rs751034678 0.00002
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln) rs1052032 0.00002
NM_000260.4(MYO7A):c.2679C>T (p.Ala893=) rs782279442 0.00002
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732 0.00002
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.4476C>T (p.Ala1492=) rs777008254 0.00002
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp) rs781335672 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000260.4(MYO7A):c.5857-3C>A rs727505114 0.00002
NM_000260.4(MYO7A):c.6111G>A (p.Leu2037=) rs185061452 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000260.4(MYO7A):c.618C>T (p.Arg206=) rs375851346 0.00002
NM_000307.5(POU3F4):c.*297T>C rs1297004201 0.00002
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg) rs773169987 0.00002
NM_000441.2(SLC26A4):c.*120G>A rs776063556 0.00002
NM_000441.2(SLC26A4):c.*840C>T rs886061889 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala) rs745546618 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala) rs200712253 0.00002
NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn) rs886061883 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser) rs200431470 0.00002
NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) rs772209957 0.00002
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) rs780554525 0.00002
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp) rs771692758 0.00002
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys) rs148449230 0.00002
NM_001127453.2(GSDME):c.480G>C (p.Gln160His) rs546120306 0.00002
NM_001145308.5(LRTOMT):c.*400C>A rs956514341 0.00002
NM_001145308.5(LRTOMT):c.*638C>T rs1217502070 0.00002
NM_001145308.5(LRTOMT):c.-305G>A rs886048627 0.00002
NM_001145308.5(LRTOMT):c.503C>T (p.Thr168Met) rs537610140 0.00002
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn) rs571071269 0.00002
NM_001145809.2(MYH14):c.2893G>A (p.Glu965Lys) rs773353115 0.00002
NM_001145809.2(MYH14):c.3467+9T>G rs1378826651 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001145809.2(MYH14):c.4585C>T (p.Arg1529Cys) rs758821769 0.00002
NM_001145809.2(MYH14):c.4610G>A (p.Arg1537Gln) rs752388019 0.00002
NM_001145809.2(MYH14):c.4773C>T (p.Ala1591=) rs746906367 0.00002
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala) rs774773452 0.00002
NM_001145809.2(MYH14):c.5133G>C (p.Gln1711His) rs202119742 0.00002
NM_001145809.2(MYH14):c.5284C>T (p.Arg1762Trp) rs746211693 0.00002
NM_001145809.2(MYH14):c.5987G>A (p.Arg1996His) rs369111539 0.00002
NM_001145809.2(MYH14):c.6065G>C (p.Gly2022Ala) rs1337213084 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys) rs375571181 0.00002
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001243133.2(NLRP3):c.1371G>T (p.Glu457Asp) rs191754224 0.00002
NM_001243133.2(NLRP3):c.1918T>G (p.Phe640Val) rs1024570390 0.00002
NM_001243133.2(NLRP3):c.2285C>T (p.Thr762Met) rs759466218 0.00002
NM_001243133.2(NLRP3):c.2336G>A (p.Gly779Asp) rs768252357 0.00002
NM_001243133.2(NLRP3):c.2536G>C (p.Ala846Pro) rs773376112 0.00002
NM_001243133.2(NLRP3):c.2812G>A (p.Asp938Asn) rs201260331 0.00002
NM_001243133.2(NLRP3):c.386A>G (p.Lys129Arg) rs188623199 0.00002
NM_001243133.2(NLRP3):c.397+6C>T rs201165941 0.00002
NM_001256317.3(TMPRSS3):c.1019C>T (p.Thr340Met) rs200002841 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val) rs758738833 0.00002
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter) rs782783744 0.00002
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met) rs763524517 0.00002
NM_001376256.1(CRYM):c.907G>A (p.Ala303Thr) rs727502945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.5050G>A (p.Gly1684Arg) rs778223464 0.00002
NM_001379180.1(ESRRB):c.*1502A>T rs752675221 0.00002
NM_001379180.1(ESRRB):c.*2867C>T rs554904120 0.00002
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser) rs397517450 0.00002
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His) rs548728030 0.00002
NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu) rs755819004 0.00002
NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser) rs556312555 0.00002
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val) rs1131691786 0.00002
NM_001384474.1(LOXHD1):c.2237T>C (p.Ile746Thr) rs1230156672 0.00002
NM_001384474.1(LOXHD1):c.245+5G>A rs374277176 0.00002
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala) rs1015707963 0.00002
NM_001384474.1(LOXHD1):c.3015C>T (p.Asn1005=) rs534756824 0.00002
NM_001384474.1(LOXHD1):c.3170G>A (p.Arg1057Gln) rs1275821062 0.00002
NM_001384474.1(LOXHD1):c.329T>C (p.Ile110Thr) rs556403714 0.00002
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=) rs774278587 0.00002
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val) rs1377630828 0.00002
NM_001384474.1(LOXHD1):c.409C>T (p.Arg137Cys) rs369244277 0.00002
NM_001384474.1(LOXHD1):c.4481G>A (p.Arg1494Gln) rs949457669 0.00002
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) rs922663658 0.00002
NM_001384474.1(LOXHD1):c.5771C>T (p.Ser1924Leu) rs886053825 0.00002
NM_001384474.1(LOXHD1):c.611-8G>A rs748870133 0.00002
NM_001384474.1(LOXHD1):c.6170G>C (p.Arg2057Pro) rs939845241 0.00002
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=) rs1238383222 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001384474.1(LOXHD1):c.6405C>T (p.Phe2135=) rs916139061 0.00002
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) rs776112233 0.00002
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu) rs950165733 0.00002
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His) rs876657862 0.00002
NM_002241.5(KCNJ10):c.*2406T>C rs771363724 0.00002
NM_002241.5(KCNJ10):c.*2624G>A rs745675740 0.00002
NM_002241.5(KCNJ10):c.*680T>G rs886045411 0.00002
NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His) rs764034536 0.00002
NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg) rs770453248 0.00002
NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe) rs939420346 0.00002
NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu) rs374746230 0.00002
NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln) rs200807361 0.00002
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) rs750911335 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.4305C>T (p.Ser1435=) rs768359816 0.00002
NM_002473.6(MYH9):c.4348C>T (p.Leu1450=) rs764948348 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) rs756867174 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_002700.3(POU4F3):c.182C>A (p.Ala61Glu) rs770000759 0.00002
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser) rs200286254 0.00002
NM_004004.6(GJB2):c.-22-1G>A rs551625098 0.00002
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe) rs765921870 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.514T>A (p.Trp172Arg) rs770330002 0.00002
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr) rs752812448 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004086.3(COCH):c.-10A>G rs200113981 0.00002
NM_004086.3(COCH):c.293G>A (p.Arg98Gln) rs764704351 0.00002
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004230.4(S1PR2):c.985C>T (p.Arg329Cys) rs765378016 0.00002
NM_004447.6(EPS8):c.205-8A>G rs180899529 0.00002
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser) rs767616299 0.00002
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met) rs748693577 0.00002
NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu) rs1016512710 0.00002
NM_004999.4(MYO6):c.*2688A>G rs982469853 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_004999.4(MYO6):c.2309T>C (p.Met770Thr) rs202216621 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_005219.5(DIAPH1):c.1648A>C (p.Lys550Gln) rs528268486 0.00002
NM_005219.5(DIAPH1):c.1948A>G (p.Thr650Ala) rs1158959492 0.00002
NM_005219.5(DIAPH1):c.1984G>T (p.Gly662Cys) rs753471630 0.00002
NM_005219.5(DIAPH1):c.2063C>T (p.Pro688Leu) rs775146972 0.00002
NM_005219.5(DIAPH1):c.2137A>G (p.Met713Val) rs764305772 0.00002
NM_005219.5(DIAPH1):c.239C>T (p.Thr80Ile) rs777368467 0.00002
NM_005219.5(DIAPH1):c.2764C>A (p.Gln922Lys) rs766891698 0.00002
NM_005219.5(DIAPH1):c.2903G>A (p.Arg968His) rs373654027 0.00002
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222 0.00002
NM_005219.5(DIAPH1):c.3212G>A (p.Arg1071His) rs538492176 0.00002
NM_005219.5(DIAPH1):c.3374A>G (p.Asp1125Gly) rs1490710264 0.00002
NM_005219.5(DIAPH1):c.3467G>A (p.Arg1156Gln) rs764296073 0.00002
NM_005219.5(DIAPH1):c.352A>G (p.Ile118Val) rs769174848 0.00002
NM_005219.5(DIAPH1):c.3638G>A (p.Arg1213Gln) rs978882548 0.00002
NM_005219.5(DIAPH1):c.3701C>T (p.Ala1234Val) rs764739820 0.00002
NM_005219.5(DIAPH1):c.767T>C (p.Met256Thr) rs532196989 0.00002
NM_005219.5(DIAPH1):c.856A>G (p.Arg286Gly) rs1325994580 0.00002
NM_005219.5(DIAPH1):c.863A>G (p.Glu288Gly) rs547044466 0.00002
NM_005219.5(DIAPH1):c.933+12C>T rs772703740 0.00002
NM_005219.5(DIAPH1):c.933+6T>C rs948017991 0.00002
NM_005422.4(TECTA):c.2071G>A (p.Gly691Ser) rs755227541 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_005422.4(TECTA):c.4842G>C (p.Leu1614=) rs371071499 0.00002
NM_005982.4(SIX1):c.*266C>A rs1049363176 0.00002
NM_006005.3(WFS1):c.1378G>A (p.Ala460Thr) rs767998582 0.00002
NM_006005.3(WFS1):c.1550G>A (p.Arg517His) rs150394063 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) rs766900991 0.00002
NM_006005.3(WFS1):c.2212G>A (p.Ala738Thr) rs563972671 0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met) rs199769524 0.00002
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg) rs777964510 0.00002
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys) rs200528166 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys) rs367547063 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_006005.3(WFS1):c.304G>A (p.Ala102Thr) rs1252423572 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_006005.3(WFS1):c.727G>A (p.Ala243Thr) rs760226129 0.00002
NM_006005.3(WFS1):c.979C>T (p.Leu327Phe) rs71537678 0.00002
NM_006383.4(CIB2):c.352A>G (p.Asn118Asp) rs146274871 0.00002
NM_012188.5(FOXI1):c.*74G>A rs1235816008 0.00002
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala) rs773715692 0.00002
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015404.4(WHRN):c.324A>G (p.Gln108=) rs763014940 0.00002
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922 0.00002
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_016239.4(MYO15A):c.2805C>T (p.Pro935=) rs775694870 0.00002
NM_016239.4(MYO15A):c.2926C>T (p.Leu976Phe) rs565870287 0.00002
NM_016239.4(MYO15A):c.3652C>G (p.Gln1218Glu) rs373112966 0.00002
NM_016239.4(MYO15A):c.3952G>A (p.Gly1318Ser) rs374088232 0.00002
NM_016239.4(MYO15A):c.4038+3A>G rs564616200 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His) rs544020493 0.00002
NM_016239.4(MYO15A):c.5649+13C>T rs539268741 0.00002
NM_016239.4(MYO15A):c.5776C>T (p.Arg1926Cys) rs539637895 0.00002
NM_016239.4(MYO15A):c.6601G>C (p.Gly2201Arg) rs1233040127 0.00002
NM_016239.4(MYO15A):c.8431G>A (p.Gly2811Arg) rs181229675 0.00002
NM_016239.4(MYO15A):c.8450G>A (p.Arg2817His) rs761861080 0.00002
NM_016239.4(MYO15A):c.8825G>A (p.Arg2942His) rs374985544 0.00002
NM_016239.4(MYO15A):c.9859G>A (p.Gly3287Ser) rs756488169 0.00002
NM_016356.5(DCDC2):c.1071C>A (p.Asn357Lys) rs746347880 0.00002
NM_016356.5(DCDC2):c.1154C>T (p.Pro385Leu) rs773020868 0.00002
NM_016356.5(DCDC2):c.685A>G (p.Thr229Ala) rs1043649931 0.00002
NM_017433.5(MYO3A):c.3537G>A (p.Val1179=) rs774297046 0.00002
NM_018429.3(BDP1):c.6809-2A>G rs777466033 0.00002
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.1858+6T>C rs745522676 0.00002
NM_022124.6(CDH23):c.2038G>A (p.Val680Met) rs760334573 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.2290-3C>T rs182365129 0.00002
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371 0.00002
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.7054+6T>C rs750286810 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.7225-11C>G rs1393666972 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.7661-8A>G rs754067214 0.00002
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln) rs769627991 0.00002
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) rs1235821368 0.00002
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=) rs767480784 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=) rs367684899 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr) rs138304650 0.00002
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr) rs758680191 0.00002
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val) rs760992741 0.00002
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg) rs1318691269 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_138691.3(TMC1):c.-295A>T rs1391656977 0.00002
NM_138691.3(TMC1):c.-350C>T rs1022291966 0.00002
NM_138691.3(TMC1):c.1312G>A (p.Ala438Thr) rs745495139 0.00002
NM_138691.3(TMC1):c.1584A>G (p.Thr528=) rs762248733 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_138691.3(TMC1):c.2276G>A (p.Arg759His) rs765191961 0.00002
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg) rs781747541 0.00002
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr) rs748939449 0.00002
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu) rs140364490 0.00002
NM_147196.3(TMIE):c.*691G>A rs569720565 0.00002
NM_147196.3(TMIE):c.-8G>T rs1198696237 0.00002
NM_147196.3(TMIE):c.192G>A (p.Ser64=) rs367618669 0.00002
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr) rs769984840 0.00002
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655 0.00002
NM_153676.4(USH1C):c.204G>T (p.Leu68=) rs140945339 0.00002
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539 0.00002
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716 0.00002
NM_153676.4(USH1C):c.388-8T>A rs777486804 0.00002
NM_153676.4(USH1C):c.497-4G>A rs397517881 0.00002
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187 0.00002
NM_178335.3(CCDC50):c.679C>T (p.Arg227Trp) rs1032719052 0.00002
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) rs774466373 0.00002
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) rs767421846 0.00002
NM_194248.3(OTOF):c.*898C>A rs886055871 0.00002
NM_194248.3(OTOF):c.-73G>A rs550236431 0.00002
NM_194248.3(OTOF):c.1117G>A (p.Val373Met) rs561112634 0.00002
NM_194248.3(OTOF):c.1206-10G>A rs769631334 0.00002
NM_194248.3(OTOF):c.146G>A (p.Arg49Gln) rs111033444 0.00002
NM_194248.3(OTOF):c.1489G>A (p.Val497Met) rs144012583 0.00002
NM_194248.3(OTOF):c.1579+9C>T rs770761461 0.00002
NM_194248.3(OTOF):c.1703G>A (p.Arg568Gln) rs397517934 0.00002
NM_194248.3(OTOF):c.3481G>A (p.Glu1161Lys) rs758983524 0.00002
NM_194248.3(OTOF):c.4377G>T (p.Val1459=) rs374209343 0.00002
NM_194248.3(OTOF):c.4581C>T (p.Arg1527=) rs560125081 0.00002
NM_194248.3(OTOF):c.494A>T (p.Glu165Val) rs202011111 0.00002
NM_194248.3(OTOF):c.510-9C>A rs199789769 0.00002
NM_194248.3(OTOF):c.5202G>A (p.Leu1734=) rs770579181 0.00002
NM_194248.3(OTOF):c.5702T>C (p.Phe1901Ser) rs200182894 0.00002
NM_194248.3(OTOF):c.5903A>G (p.Lys1968Arg) rs754090877 0.00002
NM_194248.3(OTOF):c.654C>T (p.Pro218=) rs761399081 0.00002
NM_000245.4(MET):c.1336A>G (p.Ile446Val) rs779022887 0.00001
NM_000245.4(MET):c.1406G>A (p.Arg469Gln) rs752842662 0.00001
NM_000245.4(MET):c.143C>G (p.Ala48Gly) rs80256822 0.00001
NM_000245.4(MET):c.1444G>A (p.Asp482Asn) rs863224694 0.00001
NM_000245.4(MET):c.1450C>T (p.His484Tyr) rs771272439 0.00001
NM_000245.4(MET):c.1451A>G (p.His484Arg) rs781545528 0.00001
NM_000245.4(MET):c.146A>G (p.Glu49Gly) rs370499060 0.00001
NM_000245.4(MET):c.1477G>C (p.Glu493Gln) rs965319455 0.00001
NM_000245.4(MET):c.1772G>A (p.Arg591Gln) rs775965879 0.00001
NM_000245.4(MET):c.1786T>A (p.Phe596Ile) rs879254332 0.00001
NM_000245.4(MET):c.1858A>G (p.Asn620Asp) rs372116735 0.00001
NM_000245.4(MET):c.2128T>C (p.Tyr710His) rs1794273981 0.00001
NM_000245.4(MET):c.215T>C (p.Val72Ala) rs973796037 0.00001
NM_000245.4(MET):c.2278A>G (p.Ile760Val) rs786202191 0.00001
NM_000245.4(MET):c.230A>C (p.Asp77Ala) rs761221409 0.00001
NM_000245.4(MET):c.2333A>C (p.Asn778Thr) rs1205392044 0.00001
NM_000245.4(MET):c.2362G>A (p.Val788Met) rs1489302008 0.00001
NM_000245.4(MET):c.2440C>A (p.Pro814Thr) rs1052270861 0.00001
NM_000245.4(MET):c.2471A>G (p.Asp824Gly) rs1446482547 0.00001
NM_000245.4(MET):c.2528C>G (p.Pro843Arg) rs762228405 0.00001
NM_000245.4(MET):c.2547G>C (p.Met849Ile) rs747989932 0.00001
NM_000245.4(MET):c.2698C>G (p.Leu900Val) rs1398243931 0.00001
NM_000245.4(MET):c.2710A>T (p.Asn904Tyr) rs1313347428 0.00001
NM_000245.4(MET):c.2795C>T (p.Thr932Ile) rs758486777 0.00001
NM_000245.4(MET):c.2802G>C (p.Leu934Phe) rs1361155132 0.00001
NM_000245.4(MET):c.3107C>T (p.Thr1036Ile) rs758440368 0.00001
NM_000245.4(MET):c.3208G>A (p.Val1070Met) rs760285693 0.00001
NM_000245.4(MET):c.3377C>A (p.Thr1126Asn) rs367634278 0.00001
NM_000245.4(MET):c.3422C>T (p.Ser1141Leu) rs375395179 0.00001
NM_000245.4(MET):c.3443G>A (p.Arg1148Gln) rs761808213 0.00001
NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) rs369838973 0.00001
NM_000245.4(MET):c.356C>T (p.Ala119Val) rs904162290 0.00001
NM_000245.4(MET):c.3586G>A (p.Ala1196Thr) rs970206545 0.00001
NM_000245.4(MET):c.3973G>A (p.Glu1325Lys) rs587778444 0.00001
NM_000245.4(MET):c.3997C>G (p.Leu1333Val) rs758738756 0.00001
NM_000245.4(MET):c.4150G>A (p.Ala1384Thr) rs758486336 0.00001
NM_000245.4(MET):c.4154C>A (p.Ser1385Tyr) rs764303128 0.00001
NM_000245.4(MET):c.446A>G (p.Asn149Ser) rs772398152 0.00001
NM_000245.4(MET):c.541G>A (p.Gly181Arg) rs779040487 0.00001
NM_000245.4(MET):c.62G>A (p.Arg21Lys) rs964356368 0.00001
NM_000245.4(MET):c.65G>T (p.Ser22Ile) rs587780739 0.00001
NM_000245.4(MET):c.689C>T (p.Thr230Met) rs587780740 0.00001
NM_000245.4(MET):c.704T>C (p.Ile235Thr) rs1060503530 0.00001
NM_000245.4(MET):c.716C>T (p.Pro239Leu) rs45551737 0.00001
NM_000245.4(MET):c.808G>C (p.Asp270His) rs1060503542 0.00001
NM_000245.4(MET):c.821T>C (p.Phe274Ser) rs758569834 0.00001
NM_000245.4(MET):c.840G>T (p.Arg280Ser) rs1207381066 0.00001
NM_000260.4(MYO7A):c.*201T>C rs942399987 0.00001
NM_000260.4(MYO7A):c.*315C>G rs924986929 0.00001
NM_000260.4(MYO7A):c.*440G>A rs779826272 0.00001
NM_000260.4(MYO7A):c.*75C>T rs1958052155 0.00001
NM_000260.4(MYO7A):c.-196C>T rs886048666 0.00001
NM_000260.4(MYO7A):c.-52C>G rs1950674289 0.00001
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1369G>A (p.Ala457Thr) rs782255256 0.00001
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln) rs111033219 0.00001
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.1690+3A>G rs1555070313 0.00001
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859 0.00001
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289 0.00001
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314 0.00001
NM_000260.4(MYO7A):c.1946G>A (p.Arg649Gln) rs1308203959 0.00001
NM_000260.4(MYO7A):c.2107G>A (p.Gly703Arg) rs572300575 0.00001
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293 0.00001
NM_000260.4(MYO7A):c.215G>T (p.Arg72Leu) rs886048670 0.00001
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733 0.00001
NM_000260.4(MYO7A):c.239G>A (p.Gly80Asp) rs376796087 0.00001
NM_000260.4(MYO7A):c.2402A>C (p.His801Pro) rs1241891051 0.00001
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln) rs561347333 0.00001
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys) rs781926175 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.2797C>T (p.Arg933Cys) rs782189807 0.00001
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala) rs878853237 0.00001
NM_000260.4(MYO7A):c.310G>A (p.Ala104Thr) rs374967010 0.00001
NM_000260.4(MYO7A):c.3375+3G>A rs397516299 0.00001
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913 0.00001
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421 0.00001
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667 0.00001
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442 0.00001
NM_000260.4(MYO7A):c.3633C>T (p.Tyr1211=) rs762101560 0.00001
NM_000260.4(MYO7A):c.3638G>A (p.Arg1213Gln) rs372642675 0.00001
NM_000260.4(MYO7A):c.3664G>A (p.Gly1222Ser) rs755771068 0.00001
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_000260.4(MYO7A):c.3723A>T (p.Thr1241=) rs767426033 0.00001
NM_000260.4(MYO7A):c.3825C>T (p.Asp1275=) rs771896529 0.00001
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981 0.00001
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr) rs375066152 0.00001
NM_000260.4(MYO7A):c.4051T>C (p.Phe1351Leu) rs753630781 0.00001
NM_000260.4(MYO7A):c.4153-10C>G rs397516306 0.00001
NM_000260.4(MYO7A):c.4153-11C>T rs727503330 0.00001
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309 0.00001
NM_000260.4(MYO7A):c.4711A>T (p.Thr1571Ser) rs746774239 0.00001
NM_000260.4(MYO7A):c.4734C>T (p.Asp1578=) rs747155741 0.00001
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485 0.00001
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His) rs1241956038 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp) rs757984734 0.00001
NM_000260.4(MYO7A):c.5252C>T (p.Pro1751Leu) rs746296177 0.00001
NM_000260.4(MYO7A):c.5265G>A (p.Ala1755=) rs773557376 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542 0.00001
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432 0.00001
NM_000260.4(MYO7A):c.569T>G (p.Leu190Trp) rs1010166278 0.00001
NM_000260.4(MYO7A):c.5772C>A (p.Ala1924=) rs749438001 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.5820A>G (p.Ser1940=) rs886048682 0.00001
NM_000260.4(MYO7A):c.5851G>C (p.Asp1951His) rs767931313 0.00001
NM_000260.4(MYO7A):c.5896G>A (p.Val1966Ile) rs371313080 0.00001
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln) rs762420918 0.00001
NM_000260.4(MYO7A):c.5945-9G>A rs1233077552 0.00001
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484 0.00001
NM_000260.4(MYO7A):c.6090G>A (p.Thr2030=) rs1381141633 0.00001
NM_000260.4(MYO7A):c.6203T>G (p.Leu2068Arg) rs779090765 0.00001
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589 0.00001
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met) rs769205075 0.00001
NM_000260.4(MYO7A):c.638T>A (p.Phe213Tyr) rs1555062954 0.00001
NM_000260.4(MYO7A):c.6600G>C (p.Gln2200His) rs779431269 0.00001
NM_000260.4(MYO7A):c.741G>A (p.Leu247=) rs1555063817 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000441.2(SLC26A4):c.*1277A>G rs560359006 0.00001
NM_000441.2(SLC26A4):c.*1517G>C rs2712205 0.00001
NM_000441.2(SLC26A4):c.*1960T>A rs886061893 0.00001
NM_000441.2(SLC26A4):c.*202G>A rs1005739547 0.00001
NM_000441.2(SLC26A4):c.*2065G>A rs1276655952 0.00001
NM_000441.2(SLC26A4):c.*2147G>A rs886061894 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser) rs1298350213 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val) rs559273196 0.00001
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys) rs375645779 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2040C>T (p.Val680=) rs909072667 0.00001
NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val) rs1791982304 0.00001
NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln) rs200706874 0.00001
NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn) rs1562818627 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val) rs111033365 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His) rs147078785 0.00001
NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly) rs1446406563 0.00001
NM_000441.2(SLC26A4):c.888C>T (p.Ile296=) rs765095794 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000601.6(HGF):c.6G>T (p.Trp2Cys) rs745851853 0.00001
NM_001038603.3(MARVELD2):c.*184C>T rs886060736 0.00001
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) rs753543276 0.00001
NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys) rs750561732 0.00001
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) rs199708957 0.00001
NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) rs374313745 0.00001
NM_001038603.3(MARVELD2):c.497C>T (p.Thr166Ile) rs772742922 0.00001
NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) rs146516550 0.00001
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00001
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met) rs776527204 0.00001
NM_001042702.5(PJVK):c.-232A>G rs1351130857 0.00001
NM_001042702.5(PJVK):c.-283C>G rs886055206 0.00001
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln) rs760036509 0.00001
NM_001042702.5(PJVK):c.778A>G (p.Met260Val) rs201237972 0.00001
NM_001046.3(SLC12A2):c.2210T>A (p.Leu737Gln) rs376802988 0.00001
NM_001046.3(SLC12A2):c.2293C>G (p.Leu765Val) rs548545596 0.00001
NM_001080476.3(GRXCR1):c.*6G>T rs1344018880 0.00001
NM_001080476.3(GRXCR1):c.358T>C (p.Phe120Leu) rs529420082 0.00001
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001127453.2(GSDME):c.1349G>A (p.Arg450His) rs764724618 0.00001
NM_001127453.2(GSDME):c.225G>A (p.Ser75=) rs191022542 0.00001
NM_001127453.2(GSDME):c.247A>G (p.Lys83Glu) rs777453610 0.00001
NM_001127453.2(GSDME):c.294G>A (p.Lys98=) rs1385224336 0.00001
NM_001127453.2(GSDME):c.430C>A (p.Leu144Ile) rs1562697643 0.00001
NM_001127453.2(GSDME):c.544G>A (p.Gly182Ser) rs745411723 0.00001
NM_001127453.2(GSDME):c.766G>A (p.Asp256Asn) rs763468767 0.00001
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe) rs201404168 0.00001
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu) rs727503520 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001145026.2(PTPRQ):c.6299T>G (p.Met2100Arg) rs1330487603 0.00001
NM_001145308.5(LRTOMT):c.*1225T>A rs1469899576 0.00001
NM_001145308.5(LRTOMT):c.*1581C>T rs373529881 0.00001
NM_001145308.5(LRTOMT):c.*1608G>C rs769123440 0.00001
NM_001145308.5(LRTOMT):c.*336C>T rs886048638 0.00001
NM_001145308.5(LRTOMT):c.-256C>G rs139554095 0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp) rs1372399805 0.00001
NM_001145308.5(LRTOMT):c.161G>A (p.Arg54Gln) rs764268350 0.00001
NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148 0.00001
NM_001145308.5(LRTOMT):c.196C>G (p.Leu66Val) rs876657864 0.00001
NM_001145308.5(LRTOMT):c.373C>T (p.Arg125Trp) rs762128762 0.00001
NM_001145308.5(LRTOMT):c.499C>T (p.Arg167Cys) rs1038978268 0.00001
NM_001145308.5(LRTOMT):c.538G>A (p.Gly180Ser) rs529549122 0.00001
NM_001145809.2(MYH14):c.*474A>G rs886054597 0.00001
NM_001145809.2(MYH14):c.-3-6C>T rs886054586 0.00001
NM_001145809.2(MYH14):c.-37C>T rs549250648 0.00001
NM_001145809.2(MYH14):c.-48C>T rs1371256666 0.00001
NM_001145809.2(MYH14):c.1295G>A (p.Arg432Gln) rs751011647 0.00001
NM_001145809.2(MYH14):c.1368C>T (p.Tyr456=) rs554040475 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001145809.2(MYH14):c.1657-7T>C rs369518939 0.00001
NM_001145809.2(MYH14):c.204G>A (p.Ala68=) rs780560401 0.00001
NM_001145809.2(MYH14):c.2086G>A (p.Asp696Asn) rs539256005 0.00001
NM_001145809.2(MYH14):c.2089G>A (p.Gly697Ser) rs778416774 0.00001
NM_001145809.2(MYH14):c.2126G>A (p.Arg709Gln) rs766802012 0.00001
NM_001145809.2(MYH14):c.2271T>C (p.Leu757=) rs371266692 0.00001
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628 0.00001
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) rs142134135 0.00001
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=) rs886054592 0.00001
NM_001145809.2(MYH14):c.3427C>T (p.Leu1143=) rs770366755 0.00001
NM_001145809.2(MYH14):c.3593A>T (p.Gln1198Leu) rs755161446 0.00001
NM_001145809.2(MYH14):c.3868G>A (p.Glu1290Lys) rs1421577105 0.00001
NM_001145809.2(MYH14):c.393C>T (p.Ser131=) rs778036519 0.00001
NM_001145809.2(MYH14):c.3945G>A (p.Leu1315=) rs769999356 0.00001
NM_001145809.2(MYH14):c.4212C>T (p.Ala1404=) rs774053333 0.00001
NM_001145809.2(MYH14):c.4669C>T (p.Arg1557Cys) rs780299880 0.00001
NM_001145809.2(MYH14):c.4778G>A (p.Arg1593Gln) rs776185423 0.00001
NM_001145809.2(MYH14):c.535G>A (p.Glu179Lys) rs886054588 0.00001
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) rs201040702 0.00001
NM_001145809.2(MYH14):c.559C>A (p.Gln187Lys) rs1157237240 0.00001
NM_001145809.2(MYH14):c.5858G>A (p.Arg1953Gln) rs754203387 0.00001
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp) rs758424787 0.00001
NM_001145809.2(MYH14):c.652G>A (p.Val218Met) rs748472752 0.00001
NM_001145809.2(MYH14):c.851T>C (p.Ile284Thr) rs752106950 0.00001
NM_001145809.2(MYH14):c.909C>T (p.Ala303=) rs199682956 0.00001
NM_001146079.2(CLDN14):c.-492C>T rs886057055 0.00001
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) rs387907417 0.00001
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met) rs764077250 0.00001
NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe) rs760657763 0.00001
NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) rs759597838 0.00001
NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) rs200651246 0.00001
NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) rs763085148 0.00001
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) rs1425787315 0.00001
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile) rs777515811 0.00001
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln) rs762442022 0.00001
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581 0.00001
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg) rs528162903 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) rs863224932 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr) rs201911646 0.00001
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile) rs951307443 0.00001
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg) rs772570554 0.00001
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His) rs1596972871 0.00001
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771 0.00001
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr) rs758665573 0.00001
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile) rs1403522004 0.00001
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly) rs761300077 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=) rs1333624924 0.00001
NM_001199107.2(TBC1D24):c.1526-3C>T rs752385354 0.00001
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln) rs780286465 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser) rs779026472 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg) rs1427285339 0.00001
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg) rs866586869 0.00001
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr) rs756581138 0.00001
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630 0.00001
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu) rs543224888 0.00001
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys) rs1343535255 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His) rs746543920 0.00001
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met) rs754479878 0.00001
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr) rs770787878 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr) rs565087939 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser) rs1277641753 0.00001
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr) rs757359393 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val) rs771442254 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) rs761347854 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile) rs370614433 0.00001
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) rs370477379 0.00001
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg) rs1004946712 0.00001
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val) rs1417808543 0.00001
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val) rs775099094 0.00001
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val) rs748759187 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199107.2(TBC1D24):c.965+13C>T rs531521557 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001199799.2(ILDR1):c.1291C>T (p.Arg431Cys) rs376510686 0.00001
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys) rs201384608 0.00001
NM_001243133.2(NLRP3):c.1643G>A (p.Arg548His) rs200258061 0.00001
NM_001243133.2(NLRP3):c.169A>G (p.Ile57Val) rs1366541794 0.00001
NM_001243133.2(NLRP3):c.1921G>A (p.Val641Met) rs1662794808 0.00001
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn) rs781561828 0.00001
NM_001243133.2(NLRP3):c.2244C>G (p.Asp748Glu) rs780246397 0.00001
NM_001243133.2(NLRP3):c.2392C>A (p.Leu798Met) rs756392002 0.00001
NM_001243133.2(NLRP3):c.2530G>T (p.Asp844Tyr) rs1409419107 0.00001
NM_001243133.2(NLRP3):c.2680C>T (p.Leu894Phe) rs1157282902 0.00001
NM_001243133.2(NLRP3):c.2912A>C (p.Lys971Thr) rs1247641472 0.00001
NM_001256317.3(TMPRSS3):c.*429C>A rs760132655 0.00001
NM_001256317.3(TMPRSS3):c.*493C>T rs146497192 0.00001
NM_001256317.3(TMPRSS3):c.-51-12T>C rs149439713 0.00001
NM_001256317.3(TMPRSS3):c.1004G>C (p.Gly335Ala) rs369161852 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001256317.3(TMPRSS3):c.1344+9G>A rs200739633 0.00001
NM_001256317.3(TMPRSS3):c.17C>T (p.Pro6Leu) rs139865555 0.00001
NM_001256317.3(TMPRSS3):c.411C>T (p.Tyr137=) rs142784113 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr) rs894980888 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NM_001304438.2(TMEM132E):c.809G>A (p.Arg270His) rs570477617 0.00001
NM_001354604.2(MITF):c.1031C>T (p.Pro344Leu) rs756923654 0.00001
NM_001376256.1(CRYM):c.10G>T (p.Val4Leu) rs766675674 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr) rs1230531336 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001379180.1(ESRRB):c.*1398C>T rs755771149 0.00001
NM_001379180.1(ESRRB):c.*2702A>C rs1303057558 0.00001
NM_001379180.1(ESRRB):c.*2765A>G rs576730553 0.00001
NM_001379180.1(ESRRB):c.*2859T>A rs187244352 0.00001
NM_001379180.1(ESRRB):c.1119C>T (p.Ser373=) rs545480530 0.00001
NM_001379180.1(ESRRB):c.292G>A (p.Glu98Lys) rs1477346091 0.00001
NM_001379180.1(ESRRB):c.480C>T (p.Cys160=) rs886050805 0.00001
NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) rs139104747 0.00001
NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) rs1189952332 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) rs765215862 0.00001
NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter) rs770416107 0.00001
NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter) rs1554814611 0.00001
NM_001384474.1(LOXHD1):c.*4G>A rs876657856 0.00001
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His) rs727503150 0.00001
NM_001384474.1(LOXHD1):c.1135-13C>T rs1171811821 0.00001
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln) rs397517860 0.00001
NM_001384474.1(LOXHD1):c.1500T>C (p.Ser500=) rs886053838 0.00001
NM_001384474.1(LOXHD1):c.1832C>T (p.Ser611Phe) rs1149438 0.00001
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=) rs918348196 0.00001
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=) rs751871989 0.00001
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met) rs876657854 0.00001
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr) rs779377762 0.00001
NM_001384474.1(LOXHD1):c.2047+15T>A rs1048096626 0.00001
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=) rs1017933129 0.00001
NM_001384474.1(LOXHD1):c.2311C>G (p.Gln771Glu) rs1008856721 0.00001
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser) rs876657860 0.00001
NM_001384474.1(LOXHD1):c.2438-9C>A rs886053834 0.00001
NM_001384474.1(LOXHD1):c.246-5T>C rs1453735142 0.00001
NM_001384474.1(LOXHD1):c.2516A>T (p.Tyr839Phe) rs752014328 0.00001
NM_001384474.1(LOXHD1):c.2648C>T (p.Thr883Met) rs186315227 0.00001
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=) rs568152703 0.00001
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met) rs769899814 0.00001
NM_001384474.1(LOXHD1):c.2704G>C (p.Val902Leu) rs756960512 0.00001
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) rs534815867 0.00001
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp) rs886053832 0.00001
NM_001384474.1(LOXHD1):c.2882A>G (p.Glu961Gly) rs1023902108 0.00001
NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile) rs1485784156 0.00001
NM_001384474.1(LOXHD1):c.3146A>G (p.Glu1049Gly) rs767265152 0.00001
NM_001384474.1(LOXHD1):c.3161C>T (p.Thr1054Met) rs555210209 0.00001
NM_001384474.1(LOXHD1):c.3185C>T (p.Ser1062Leu) rs1217234229 0.00001
NM_001384474.1(LOXHD1):c.3195C>T (p.Ser1065=) rs886053830 0.00001
NM_001384474.1(LOXHD1):c.3275G>A (p.Arg1092His) rs757280331 0.00001
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val) rs727503143 0.00001
NM_001384474.1(LOXHD1):c.3597C>G (p.Leu1199=) rs886053829 0.00001
NM_001384474.1(LOXHD1):c.3648A>G (p.Thr1216=) rs886053828 0.00001
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu) rs397517862 0.00001
NM_001384474.1(LOXHD1):c.391A>G (p.Met131Val) rs769960235 0.00001
NM_001384474.1(LOXHD1):c.4239C>T (p.Cys1413=) rs886053827 0.00001
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859 0.00001
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met) rs727503140 0.00001
NM_001384474.1(LOXHD1):c.4476_4477insT (p.Glu1493Ter) rs763478051 0.00001
NM_001384474.1(LOXHD1):c.4531-9G>A rs1409319193 0.00001
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His) rs778691392 0.00001
NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His) rs1293854417 0.00001
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=) rs976758061 0.00001
NM_001384474.1(LOXHD1):c.5005G>C (p.Gly1669Arg) rs1169003694 0.00001
NM_001384474.1(LOXHD1):c.5047G>A (p.Val1683Ile) rs571616553 0.00001
NM_001384474.1(LOXHD1):c.511+13G>C rs1265165427 0.00001
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp) rs727503139 0.00001
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg) rs775186197 0.00001
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr) rs1433984656 0.00001
NM_001384474.1(LOXHD1):c.5722A>G (p.Ile1908Val) rs781097312 0.00001
NM_001384474.1(LOXHD1):c.572A>G (p.Asp191Gly) rs886053842 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001384474.1(LOXHD1):c.580A>T (p.Ile194Phe) rs886053841 0.00001
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=) rs1402378599 0.00001
NM_001384474.1(LOXHD1):c.5T>C (p.Met2Thr) rs761525328 0.00001
NM_001384474.1(LOXHD1):c.611-7C>T rs916137735 0.00001
NM_001384474.1(LOXHD1):c.613G>A (p.Glu205Lys) rs958186869 0.00001
NM_001384474.1(LOXHD1):c.6458C>T (p.Pro2153Leu) rs1568061614 0.00001
NM_001384474.1(LOXHD1):c.6497C>G (p.Pro2166Arg) rs200198786 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) rs745938801 0.00001
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys) rs376559755 0.00001
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu) rs1304841781 0.00001
NM_001384474.1(LOXHD1):c.6659G>A (p.Arg2220His) rs886053822 0.00001
NM_001384474.1(LOXHD1):c.821C>T (p.Ala274Val) rs886053840 0.00001
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg) rs1279719056 0.00001
NM_001614.5(ACTG1):c.124-3C>T rs143798951 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu) rs1040168773 0.00001
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237 0.00001
NM_001854.4(COL11A1):c.4175C>T (p.Thr1392Ile) rs780411112 0.00001
NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) rs925433052 0.00001
NM_002160.4(TNC):c.1580G>C (p.Cys527Ser) rs746843738 0.00001
NM_002241.5(KCNJ10):c.*237A>G rs886045412 0.00001
NM_002241.5(KCNJ10):c.*3104T>A rs376496371 0.00001
NM_002241.5(KCNJ10):c.*3458G>A rs543628318 0.00001
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) rs373899425 0.00001
NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys) rs1648596230 0.00001
NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr) rs750246232 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002241.5(KCNJ10):c.250G>A (p.Val84Met) rs140646329 0.00001
NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val) rs751625111 0.00001
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr) rs796052607 0.00001
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp) rs769666695 0.00001
NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg) rs36040296 0.00001
NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe) rs558502886 0.00001
NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp) rs769464065 0.00001
NM_002473.6(MYH9):c.*1330A>G rs1374073858 0.00001
NM_002473.6(MYH9):c.*13G>A rs750071451 0.00001
NM_002473.6(MYH9):c.*656T>C rs886057474 0.00001
NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn) rs767088377 0.00001
NM_002473.6(MYH9):c.1188G>A (p.Val396=) rs147972823 0.00001
NM_002473.6(MYH9):c.1344C>T (p.Ile448=) rs150125254 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.1590G>A (p.Glu530=) rs533935135 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) rs768721880 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys) rs750718366 0.00001
NM_002473.6(MYH9):c.2607G>A (p.Thr869=) rs751880371 0.00001
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) rs1359996610 0.00001
NM_002473.6(MYH9):c.2977-10C>T rs188843586 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3371G>A (p.Arg1124His) rs765237081 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) rs375081687 0.00001
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) rs876657520 0.00001
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) rs772915368 0.00001
NM_002473.6(MYH9):c.3838-11G>A rs754547754 0.00001
NM_002473.6(MYH9):c.420C>T (p.Gly140=) rs372621048 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) rs750410479 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His) rs779135945 0.00001
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) rs754714910 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002473.6(MYH9):c.5489G>A (p.Arg1830His) rs966415372 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.5766-5C>T rs746967490 0.00001
NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) rs370834297 0.00001
NM_002700.3(POU4F3):c.113C>A (p.Ala38Asp) rs762622438 0.00001
NM_002700.3(POU4F3):c.171C>G (p.Ala57=) rs781289197 0.00001
NM_002700.3(POU4F3):c.327C>A (p.His109Gln) rs1280898301 0.00001
NM_002700.3(POU4F3):c.373C>T (p.Pro125Ser) rs1760423963 0.00001
NM_002700.3(POU4F3):c.442C>T (p.His148Tyr) rs761965263 0.00001
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys) rs746613906 0.00001
NM_002700.3(POU4F3):c.591G>A (p.Arg197=) rs886060064 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002906.4(RDX):c.*1058G>A rs886047643 0.00001
NM_002906.4(RDX):c.*1143G>A rs1285328999 0.00001
NM_002906.4(RDX):c.*1215G>A rs1342774754 0.00001
NM_002906.4(RDX):c.*1536T>C rs1864574922 0.00001
NM_002906.4(RDX):c.*2057T>C rs886047633 0.00001
NM_002906.4(RDX):c.*2070A>G rs1342838556 0.00001
NM_002906.4(RDX):c.*302C>T rs181457865 0.00001
NM_002906.4(RDX):c.*463A>G rs886047645 0.00001
NM_002906.4(RDX):c.-65+12C>T rs886047651 0.00001
NM_002906.4(RDX):c.507A>G (p.Glu169=) rs886047648 0.00001
NM_004004.6(GJB2):c.*4A>G rs745748793 0.00001
NM_004004.6(GJB2):c.*550A>G rs1959051090 0.00001
NM_004004.6(GJB2):c.*679T>C rs1006432105 0.00001
NM_004004.6(GJB2):c.*979A>G rs546826225 0.00001
NM_004004.6(GJB2):c.-22-7T>C rs372197957 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.174A>G (p.Pro58=) rs778922005 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.212T>C (p.Ile71Thr) rs1373154561 0.00001
NM_004004.6(GJB2):c.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023 0.00001
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu) rs757699303 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.557C>T (p.Thr186Met) rs753674300 0.00001
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn) rs199790409 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004004.6(GJB2):c.665C>A (p.Ser222Ter) rs766975999 0.00001
NM_004086.3(COCH):c.*275C>T rs886050445 0.00001
NM_004086.3(COCH):c.*58A>G rs886050444 0.00001
NM_004086.3(COCH):c.108C>T (p.Thr36=) rs372237012 0.00001
NM_004100.5(EYA4):c.*1440C>A rs1251468796 0.00001
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00001
NM_004100.5(EYA4):c.*2660T>C rs886061096 0.00001
NM_004100.5(EYA4):c.-256C>T rs886061086 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp) rs201426875 0.00001
NM_004447.6(EPS8):c.449C>T (p.Ala150Val) rs769820275 0.00001
NM_004452.4(ESRRB):c.-300A>G rs556338868 0.00001
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys) rs373695678 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_004700.4(KCNQ4):c.1202G>A (p.Arg401Gln) rs551509351 0.00001
NM_004700.4(KCNQ4):c.1208C>T (p.Pro403Leu) rs887762794 0.00001
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His) rs371301199 0.00001
NM_004700.4(KCNQ4):c.1517C>T (p.Ala506Val) rs145732892 0.00001
NM_004700.4(KCNQ4):c.1531G>A (p.Val511Ile) rs778538229 0.00001
NM_004700.4(KCNQ4):c.946-3T>A rs876657840 0.00001
NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly) rs1308445013 0.00001
NM_004999.3(MYO6):c.-261G>A rs886061758 0.00001
NM_004999.4(MYO6):c.*1030T>C rs886061767 0.00001
NM_004999.4(MYO6):c.*2410T>C rs1475834409 0.00001
NM_004999.4(MYO6):c.*2572A>C rs1338857560 0.00001
NM_004999.4(MYO6):c.*3032C>T rs1028807508 0.00001
NM_004999.4(MYO6):c.*3064A>G rs1455253489 0.00001
NM_004999.4(MYO6):c.*3364A>G rs1457788079 0.00001
NM_004999.4(MYO6):c.*34T>G rs1562323292 0.00001
NM_004999.4(MYO6):c.*3524A>G rs886061778 0.00001
NM_004999.4(MYO6):c.*3549C>T rs1414053280 0.00001
NM_004999.4(MYO6):c.*3926T>C rs1296097210 0.00001
NM_004999.4(MYO6):c.*4196T>C rs1168354848 0.00001
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) rs377470568 0.00001
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln) rs752489259 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) rs1344197751 0.00001
NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) rs1409939234 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) rs779535270 0.00001
NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) rs751775864 0.00001
NM_004999.4(MYO6):c.438T>C (p.Ser146=) rs1773255262 0.00001
NM_004999.4(MYO6):c.564C>T (p.Leu188=) rs750374337 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr) rs777614964 0.00001
NM_004999.4(MYO6):c.908C>T (p.Ala303Val) rs776690609 0.00001
NM_005219.5(DIAPH1):c.*1654C>G rs886060024 0.00001
NM_005219.5(DIAPH1):c.*724C>T rs1019753124 0.00001
NM_005219.5(DIAPH1):c.-85A>G rs886060036 0.00001
NM_005219.5(DIAPH1):c.1000A>G (p.Ile334Val) rs1374331735 0.00001
NM_005219.5(DIAPH1):c.1015A>G (p.Met339Val) rs374115798 0.00001
NM_005219.5(DIAPH1):c.1073T>C (p.Met358Thr) rs1184130282 0.00001
NM_005219.5(DIAPH1):c.1105G>A (p.Gly369Arg) rs756750537 0.00001
NM_005219.5(DIAPH1):c.1107G>A (p.Gly369=) rs753420499 0.00001
NM_005219.5(DIAPH1):c.1157A>G (p.Glu386Gly) rs1236323559 0.00001
NM_005219.5(DIAPH1):c.1201G>C (p.Val401Leu) rs367592859 0.00001
NM_005219.5(DIAPH1):c.1248C>G (p.His416Gln) rs375904152 0.00001
NM_005219.5(DIAPH1):c.1257G>T (p.Leu419Phe) rs371587729 0.00001
NM_005219.5(DIAPH1):c.1262G>A (p.Arg421Gln) rs754559074 0.00001
NM_005219.5(DIAPH1):c.1271A>G (p.Tyr424Cys) rs895429714 0.00001
NM_005219.5(DIAPH1):c.127C>T (p.Arg43Trp) rs1305661080 0.00001
NM_005219.5(DIAPH1):c.128G>A (p.Arg43Gln) rs727502964 0.00001
NM_005219.5(DIAPH1):c.1339G>A (p.Gly447Arg) rs779687295 0.00001
NM_005219.5(DIAPH1):c.1363C>T (p.Arg455Trp) rs756545968 0.00001
NM_005219.5(DIAPH1):c.1436C>G (p.Ala479Gly) rs1342839445 0.00001
NM_005219.5(DIAPH1):c.1543G>C (p.Asp515His) rs759051179 0.00001
NM_005219.5(DIAPH1):c.1594A>G (p.Thr532Ala) rs747462106 0.00001
NM_005219.5(DIAPH1):c.1601A>G (p.Lys534Arg) rs758517099 0.00001
NM_005219.5(DIAPH1):c.1732A>G (p.Ser578Gly) rs762375683 0.00001
NM_005219.5(DIAPH1):c.1741C>T (p.Pro581Ser) rs772634604 0.00001
NM_005219.5(DIAPH1):c.1744G>C (p.Val582Leu) rs746371106 0.00001
NM_005219.5(DIAPH1):c.1795C>T (p.Pro599Ser) rs372170639 0.00001
NM_005219.5(DIAPH1):c.1834C>G (p.Pro612Ala) rs761554818 0.00001
NM_005219.5(DIAPH1):c.1891C>G (p.Pro631Ala) rs769926497 0.00001
NM_005219.5(DIAPH1):c.2009C>T (p.Pro670Leu) rs751847293 0.00001
NM_005219.5(DIAPH1):c.2035C>T (p.Pro679Ser) rs1455766498 0.00001
NM_005219.5(DIAPH1):c.2082G>T (p.Leu694Phe) rs778995744 0.00001
NM_005219.5(DIAPH1):c.2105C>T (p.Pro702Leu) rs1229036082 0.00001
NM_005219.5(DIAPH1):c.2111C>T (p.Pro704Leu) rs1245809874 0.00001
NM_005219.5(DIAPH1):c.2203G>T (p.Gly735Cys) rs757761745 0.00001
NM_005219.5(DIAPH1):c.224A>G (p.Tyr75Cys) rs745759508 0.00001
NM_005219.5(DIAPH1):c.2296G>A (p.Gly766Arg) rs769148092 0.00001
NM_005219.5(DIAPH1):c.230A>G (p.Asp77Gly) rs748806020 0.00001
NM_005219.5(DIAPH1):c.2338C>T (p.Arg780Trp) rs754235853 0.00001
NM_005219.5(DIAPH1):c.2359C>T (p.Leu787Phe) rs2099895261 0.00001
NM_005219.5(DIAPH1):c.2424C>A (p.Asn808Lys) rs766731479 0.00001
NM_005219.5(DIAPH1):c.2474-11T>C rs1356596414 0.00001
NM_005219.5(DIAPH1):c.2563A>C (p.Lys855Gln) rs991588859 0.00001
NM_005219.5(DIAPH1):c.2672T>C (p.Ile891Thr) rs727502961 0.00001
NM_005219.5(DIAPH1):c.2758T>C (p.Ser920Pro) rs746418816 0.00001
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met) rs773243948 0.00001
NM_005219.5(DIAPH1):c.2801G>A (p.Arg934Gln) rs758893826 0.00001
NM_005219.5(DIAPH1):c.2806C>T (p.Arg936Cys) rs750941858 0.00001
NM_005219.5(DIAPH1):c.2813A>G (p.Asn938Ser) rs1040008297 0.00001
NM_005219.5(DIAPH1):c.2816C>T (p.Ala939Val) rs2099887790 0.00001
NM_005219.5(DIAPH1):c.2944C>T (p.Leu982Phe) rs1431409262 0.00001
NM_005219.5(DIAPH1):c.3023G>A (p.Arg1008Gln) rs1006618137 0.00001
NM_005219.5(DIAPH1):c.3038C>T (p.Thr1013Ile) rs752924382 0.00001
NM_005219.5(DIAPH1):c.3099T>C (p.Asp1033=) rs727504838 0.00001
NM_005219.5(DIAPH1):c.3128A>G (p.His1043Arg) rs756215904 0.00001
NM_005219.5(DIAPH1):c.3188A>G (p.Lys1063Arg) rs757169374 0.00001
NM_005219.5(DIAPH1):c.3209A>C (p.Glu1070Ala) rs760138089 0.00001
NM_005219.5(DIAPH1):c.3274-5T>A rs748520819 0.00001
NM_005219.5(DIAPH1):c.3302A>G (p.Tyr1101Cys) rs772204178 0.00001
NM_005219.5(DIAPH1):c.3340C>G (p.Leu1114Val) rs1283993189 0.00001
NM_005219.5(DIAPH1):c.3358G>A (p.Glu1120Lys) rs756003432 0.00001
NM_005219.5(DIAPH1):c.3419A>G (p.Asn1140Ser) rs1232760149 0.00001
NM_005219.5(DIAPH1):c.3425G>A (p.Arg1142Gln) rs200419320 0.00001
NM_005219.5(DIAPH1):c.344A>G (p.Glu115Gly) rs762848470 0.00001
NM_005219.5(DIAPH1):c.3550G>C (p.Glu1184Gln) rs1355259448 0.00001
NM_005219.5(DIAPH1):c.3641G>A (p.Arg1214Gln) rs373679838 0.00001
NM_005219.5(DIAPH1):c.3655C>T (p.Arg1219Cys) rs373270436 0.00001
NM_005219.5(DIAPH1):c.3665A>G (p.Asn1222Ser) rs1423948383 0.00001
NM_005219.5(DIAPH1):c.3677G>A (p.Gly1226Glu) rs2099885784 0.00001
NM_005219.5(DIAPH1):c.3758A>G (p.Asn1253Ser) rs748341361 0.00001
NM_005219.5(DIAPH1):c.3767C>T (p.Thr1256Ile) rs546064158 0.00001
NM_005219.5(DIAPH1):c.3803T>C (p.Val1268Ala) rs1163619347 0.00001
NM_005219.5(DIAPH1):c.3808C>T (p.Arg1270Cys) rs758272814 0.00001
NM_005219.5(DIAPH1):c.512C>G (p.Ser171Cys) rs1251709997 0.00001
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys) rs746125273 0.00001
NM_005219.5(DIAPH1):c.620+8C>G rs759235916 0.00001
NM_005219.5(DIAPH1):c.629A>G (p.Asp210Gly) rs1424725542 0.00001
NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln) rs727504973 0.00001
NM_005219.5(DIAPH1):c.684+6A>G rs1038136298 0.00001
NM_005219.5(DIAPH1):c.70G>C (p.Asp24His) rs1276900007 0.00001
NM_005219.5(DIAPH1):c.724C>G (p.Leu242Val) rs766359994 0.00001
NM_005219.5(DIAPH1):c.789T>C (p.Leu263=) rs886060034 0.00001
NM_005219.5(DIAPH1):c.814C>G (p.Pro272Ala) rs778493344 0.00001
NM_005219.5(DIAPH1):c.882T>A (p.Arg294=) rs757469488 0.00001
NM_005219.5(DIAPH1):c.88G>A (p.Gly30Ser) rs1034109754 0.00001
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) rs121909306 0.00001
NM_005422.4(TECTA):c.1049G>A (p.Arg350Gln) rs137951168 0.00001
NM_005422.4(TECTA):c.1143C>G (p.Leu381=) rs369118145 0.00001
NM_005422.4(TECTA):c.1285G>A (p.Val429Met) rs544916783 0.00001
NM_005422.4(TECTA):c.1356C>T (p.Ser452=) rs763431691 0.00001
NM_005422.4(TECTA):c.1498G>A (p.Asp500Asn) rs754964995 0.00001
NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr) rs727503457 0.00001
NM_005422.4(TECTA):c.2409G>A (p.Ser803=) rs778543447 0.00001
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys) rs778979756 0.00001
NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) rs748088048 0.00001
NM_005422.4(TECTA):c.2835G>A (p.Gln945=) rs371290564 0.00001
NM_005422.4(TECTA):c.2876G>A (p.Arg959Gln) rs150403193 0.00001
NM_005422.4(TECTA):c.3138C>T (p.Ala1046=) rs886047840 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.4168G>A (p.Ala1390Thr) rs1481202790 0.00001
NM_005422.4(TECTA):c.4289A>G (p.Asp1430Gly) rs770316975 0.00001
NM_005422.4(TECTA):c.4337C>G (p.Thr1446Arg) rs72998913 0.00001
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys) rs727503462 0.00001
NM_005422.4(TECTA):c.4977-12C>T rs886047843 0.00001
NM_005422.4(TECTA):c.5114A>G (p.Tyr1705Cys) rs886047844 0.00001
NM_005422.4(TECTA):c.5205C>T (p.Ala1735=) rs762504147 0.00001
NM_005422.4(TECTA):c.5260A>G (p.Lys1754Glu) rs1312695280 0.00001
NM_005422.4(TECTA):c.5362G>A (p.Glu1788Lys) rs1370738313 0.00001
NM_005422.4(TECTA):c.5550C>G (p.Ile1850Met) rs775852521 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr) rs202079138 0.00001
NM_005422.4(TECTA):c.5913A>T (p.Thr1971=) rs200655923 0.00001
NM_005422.4(TECTA):c.6069C>T (p.His2023=) rs759915442 0.00001
NM_005422.4(TECTA):c.6103G>A (p.Glu2035Lys) rs267602733 0.00001
NM_005422.4(TECTA):c.6301C>T (p.Arg2101Trp) rs746566852 0.00001
NM_005422.4(TECTA):c.805C>G (p.Arg269Gly) rs777704329 0.00001
NM_005422.4(TECTA):c.880T>C (p.Cys294Arg) rs1352301200 0.00001
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val) rs1415687857 0.00001
NM_005548.3(KARS1):c.787T>G (p.Phe263Val) rs772410450 0.00001
NM_005982.4(SIX1):c.*161C>A rs886050571 0.00001
NM_005982.4(SIX1):c.*371A>G rs538935374 0.00001
NM_006005.3(WFS1):c.*11C>G rs919707549 0.00001
NM_006005.3(WFS1):c.*14C>T rs775493668 0.00001
NM_006005.3(WFS1):c.*223C>G rs905909594 0.00001
NM_006005.3(WFS1):c.*258A>G rs886059533 0.00001
NM_006005.3(WFS1):c.*37C>A rs1312854010 0.00001
NM_006005.3(WFS1):c.*656C>T rs772538455 0.00001
NM_006005.3(WFS1):c.1100A>G (p.Asp367Gly) rs771498413 0.00001
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys) rs774330485 0.00001
NM_006005.3(WFS1):c.1211C>T (p.Pro404Leu) rs935411471 0.00001
NM_006005.3(WFS1):c.1319C>T (p.Thr440Ile) rs775039116 0.00001
NM_006005.3(WFS1):c.1396G>A (p.Gly466Ser) rs727503750 0.00001
NM_006005.3(WFS1):c.1556C>T (p.Ala519Val) rs201557396 0.00001
NM_006005.3(WFS1):c.1649A>C (p.Glu550Ala) rs760990181 0.00001
NM_006005.3(WFS1):c.1705G>A (p.Ala569Thr) rs876658118 0.00001
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00001
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser) rs553336498 0.00001
NM_006005.3(WFS1):c.1986C>T (p.Ser662=) rs1055393876 0.00001
NM_006005.3(WFS1):c.19C>T (p.Pro7Ser) rs1432704019 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser) rs200136995 0.00001
NM_006005.3(WFS1):c.2192T>C (p.Met731Thr) rs146418094 0.00001
NM_006005.3(WFS1):c.2194C>T (p.Arg732Cys) rs71526458 0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg) rs876658119 0.00001
NM_006005.3(WFS1):c.2381A>G (p.Glu794Gly) rs752023481 0.00001
NM_006005.3(WFS1):c.2407G>A (p.Val803Met) rs745988826 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.2495G>A (p.Arg832His) rs141816346 0.00001
NM_006005.3(WFS1):c.395T>G (p.Leu132Arg) rs763992743 0.00001
NM_006005.3(WFS1):c.527T>C (p.Val176Ala) rs772915458 0.00001
NM_006005.3(WFS1):c.535G>A (p.Ala179Thr) rs776685250 0.00001
NM_006005.3(WFS1):c.593C>T (p.Ala198Val) rs142687752 0.00001
NM_006005.3(WFS1):c.631+5G>A rs863224261 0.00001
NM_006005.3(WFS1):c.641C>T (p.Ala214Val) rs750861249 0.00001
NM_006005.3(WFS1):c.686T>C (p.Met229Thr) rs774525063 0.00001
NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) rs727503747 0.00001
NM_006005.3(WFS1):c.77G>A (p.Arg26Gln) rs551867477 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe) rs564413149 0.00001
NM_012188.5(FOXI1):c.*248G>A rs1758583401 0.00001
NM_012188.5(FOXI1):c.*397A>T rs886060401 0.00001
NM_012188.5(FOXI1):c.*486C>T rs886060403 0.00001
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly) rs1417785705 0.00001
NM_012188.5(FOXI1):c.63C>T (p.Ile21=) rs768858662 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_015404.4(WHRN):c.*554C>T rs886063367 0.00001
NM_015404.4(WHRN):c.*613A>G rs1042938459 0.00001
NM_015404.4(WHRN):c.-92C>T rs1289815111 0.00001
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) rs763238664 0.00001
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) rs759109990 0.00001
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372 0.00001
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371 0.00001
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) rs750597763 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) rs751846994 0.00001
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370 0.00001
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422 0.00001
NM_015404.4(WHRN):c.2419-5C>T rs767910166 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) rs762248099 0.00001
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) rs140344596 0.00001
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) rs138731082 0.00001
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) rs377363590 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.837+5G>C rs201863779 0.00001
NM_016239.4(MYO15A):c.*166C>A rs886052683 0.00001
NM_016239.4(MYO15A):c.*649C>T rs1015125092 0.00001
NM_016239.4(MYO15A):c.*714G>A rs568482771 0.00001
NM_016239.4(MYO15A):c.10395G>T (p.Arg3465=) rs747753156 0.00001
NM_016239.4(MYO15A):c.10442C>T (p.Ala3481Val) rs200551105 0.00001
NM_016239.4(MYO15A):c.1259C>T (p.Ser420Leu) rs771720592 0.00001
NM_016239.4(MYO15A):c.1589C>T (p.Pro530Leu) rs1263758551 0.00001
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro) rs964336018 0.00001
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser) rs1424289379 0.00001
NM_016239.4(MYO15A):c.2920C>T (p.Pro974Ser) rs768750770 0.00001
NM_016239.4(MYO15A):c.3275C>T (p.Ala1092Val) rs1271240611 0.00001
NM_016239.4(MYO15A):c.3320G>A (p.Arg1107His) rs746368529 0.00001
NM_016239.4(MYO15A):c.3679A>G (p.Met1227Val) rs750965550 0.00001
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) rs576515898 0.00001
NM_016239.4(MYO15A):c.3844C>T (p.Arg1282Trp) rs757155918 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.4142+12C>G rs772584938 0.00001
NM_016239.4(MYO15A):c.4310A>G (p.Tyr1437Cys) rs749812958 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys) rs774077101 0.00001
NM_016239.4(MYO15A):c.4430G>A (p.Arg1477His) rs374320243 0.00001
NM_016239.4(MYO15A):c.4597-9C>T rs117767901 0.00001
NM_016239.4(MYO15A):c.4779+5G>A rs772198042 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.5007+7C>T rs771945203 0.00001
NM_016239.4(MYO15A):c.5237A>G (p.His1746Arg) rs1417723633 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.581G>A (p.Arg194His) rs1423809264 0.00001
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) rs749019041 0.00001
NM_016239.4(MYO15A):c.603G>C (p.Glu201Asp) rs1212488587 0.00001
NM_016239.4(MYO15A):c.6273+15C>G rs773272314 0.00001
NM_016239.4(MYO15A):c.6328G>A (p.Gly2110Arg) rs756396137 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6457G>A (p.Ala2153Thr) rs746552269 0.00001
NM_016239.4(MYO15A):c.6559C>T (p.Arg2187Cys) rs770280616 0.00001
NM_016239.4(MYO15A):c.6669G>A (p.Ala2223=) rs558947304 0.00001
NM_016239.4(MYO15A):c.671A>G (p.Tyr224Cys) rs779508600 0.00001
NM_016239.4(MYO15A):c.7154A>G (p.Lys2385Arg) rs756313439 0.00001
NM_016239.4(MYO15A):c.723C>T (p.Asp241=) rs753964516 0.00001
NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) rs756565842 0.00001
NM_016239.4(MYO15A):c.7633G>T (p.Asp2545Tyr) rs577721556 0.00001
NM_016239.4(MYO15A):c.7758G>A (p.Pro2586=) rs566210647 0.00001
NM_016239.4(MYO15A):c.7782C>A (p.Ala2594=) rs756119154 0.00001
NM_016239.4(MYO15A):c.7990C>A (p.Pro2664Thr) rs577657134 0.00001
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727 0.00001
NM_016239.4(MYO15A):c.8892C>T (p.Gly2964=) rs756004991 0.00001
NM_016239.4(MYO15A):c.8928C>G (p.Ala2976=) rs2046705692 0.00001
NM_016239.4(MYO15A):c.901C>G (p.Pro301Ala) rs758899795 0.00001
NM_016239.4(MYO15A):c.9067C>T (p.Pro3023Ser) rs746127887 0.00001
NM_016239.4(MYO15A):c.9706G>A (p.Val3236Met) rs761943694 0.00001
NM_016356.5(DCDC2):c.1024A>T (p.Arg342Trp) rs753636454 0.00001
NM_016356.5(DCDC2):c.1223C>T (p.Thr408Ile) rs1367144327 0.00001
NM_016356.5(DCDC2):c.1241A>C (p.Glu414Ala) rs773832570 0.00001
NM_016356.5(DCDC2):c.1364T>C (p.Val455Ala) rs763350514 0.00001
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu) rs554313786 0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp) rs776415168 0.00001
NM_016356.5(DCDC2):c.401C>T (p.Pro134Leu) rs779076957 0.00001
NM_016356.5(DCDC2):c.929G>C (p.Gly310Ala) rs746447569 0.00001
NM_017433.5(MYO3A):c.*2C>G rs768182699 0.00001
NM_017433.5(MYO3A):c.*435G>T rs886046931 0.00001
NM_017433.5(MYO3A):c.1276-5T>C rs142877629 0.00001
NM_017433.5(MYO3A):c.1746A>G (p.Gln582=) rs775168365 0.00001
NM_017433.5(MYO3A):c.1899G>T (p.Glu633Asp) rs1004108483 0.00001
NM_017433.5(MYO3A):c.1975G>A (p.Gly659Arg) rs201181958 0.00001
NM_017433.5(MYO3A):c.1991G>T (p.Arg664Leu) rs886042194 0.00001
NM_017433.5(MYO3A):c.2115-7C>A rs764917474 0.00001
NM_017433.5(MYO3A):c.2701A>G (p.Ile901Val) rs1371951424 0.00001
NM_017433.5(MYO3A):c.2854A>C (p.Ile952Leu) rs767552680 0.00001
NM_017433.5(MYO3A):c.2972G>A (p.Arg991Gln) rs764099857 0.00001
NM_017433.5(MYO3A):c.3757T>C (p.Ser1253Pro) rs541189709 0.00001
NM_017433.5(MYO3A):c.3763G>A (p.Ala1255Thr) rs1842186309 0.00001
NM_017433.5(MYO3A):c.4489C>T (p.Arg1497Trp) rs886046926 0.00001
NM_017433.5(MYO3A):c.4849T>C (p.Ter1617Gln) rs141985215 0.00001
NM_017433.5(MYO3A):c.509-15T>C rs1842008289 0.00001
NM_017433.5(MYO3A):c.706A>G (p.Met236Val) rs766118638 0.00001
NM_017433.5(MYO3A):c.859A>C (p.Ile287Leu) rs886046919 0.00001
NM_017433.5(MYO3A):c.912C>A (p.Phe304Leu) rs1458926642 0.00001
NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys) rs1388025205 0.00001
NM_022124.6(CDH23):c.*1C>G rs768199443 0.00001
NM_022124.6(CDH23):c.*247C>T rs1209398908 0.00001
NM_022124.6(CDH23):c.*408G>A rs376837903 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.*509C>T rs763532469 0.00001
NM_022124.6(CDH23):c.-185G>C rs545081281 0.00001
NM_022124.6(CDH23):c.-38G>C rs886047128 0.00001
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273 0.00001
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887 0.00001
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) rs374014052 0.00001
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00001
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly) rs763577236 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131 0.00001
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) rs775017408 0.00001
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209 0.00001
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) rs760043975 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.28C>T (p.His10Tyr) rs971142356 0.00001
NM_022124.6(CDH23):c.2953+10C>T rs781572688 0.00001
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=) rs778344637 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00001
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) rs780886093 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val) rs769888766 0.00001
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) rs1465588529 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn) rs983665281 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe) rs373823262 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141 0.00001
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys) rs762925264 0.00001
NM_022124.6(CDH23):c.789G>A (p.Gln263=) rs772466142 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met) rs752930006 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081 0.00001
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His) rs373600041 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NM_022124.6(CDH23):c.8979+13C>T rs886047142 0.00001
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met) rs1294837134 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017 0.00001
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His) rs1157786977 0.00001
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) rs557490269 0.00001
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met) rs1481107650 0.00001
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_031475.3(ESPN):c.2069C>T (p.Ser690Leu) rs117053591 0.00001
NM_033056.4(PCDH15):c.5655C>T (p.His1885=) rs758953502 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NM_133261.3(GIPC3):c.545A>C (p.Lys182Thr) rs904746365 0.00001
NM_138691.3(TMC1):c.*51G>A rs771430357 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1594G>A (p.Val532Ile) rs759289124 0.00001
NM_138691.3(TMC1):c.237-5T>A rs1057515622 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138691.3(TMC1):c.976G>A (p.Gly326Ser) rs1481117336 0.00001
NM_139319.3(SLC17A8):c.*1077A>G rs1268202148 0.00001
NM_139319.3(SLC17A8):c.*1223T>A rs943950152 0.00001
NM_139319.3(SLC17A8):c.*1883T>C rs1440971881 0.00001
NM_139319.3(SLC17A8):c.*540A>G rs1374989730 0.00001
NM_139319.3(SLC17A8):c.*541G>C rs1231058954 0.00001
NM_139319.3(SLC17A8):c.-32T>G rs760431477 0.00001
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly) rs760003512 0.00001
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val) rs1168855290 0.00001
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met) rs773887574 0.00001
NM_139319.3(SLC17A8):c.354+7A>T rs886048787 0.00001
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys) rs1203098049 0.00001
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu) rs751132044 0.00001
NM_145309.6(LRTOMT):c.230A>G (p.His77Arg) rs1382614042 0.00001
NM_147196.3(TMIE):c.*47T>A rs1700597797 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_147196.3(TMIE):c.64C>T (p.Leu22Phe) rs1700477304 0.00001
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812 0.00001
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) rs775363189 0.00001
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128 0.00001
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640 0.00001
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187 0.00001
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564 0.00001
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.2270G>A (p.Arg757His) rs753703742 0.00001
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878 0.00001
NM_153676.4(USH1C):c.2656-1G>A rs747133793 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673 0.00001
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934 0.00001
NM_170682.4(P2RX2):c.905G>C (p.Arg302Thr) rs2041656946 0.00001
NM_182548.3(LHFPL5):c.-335A>G rs886061339 0.00001
NM_182548.4(LHFPL5):c.*489C>T rs1768914804 0.00001
NM_182548.4(LHFPL5):c.*501C>G rs1581977965 0.00001
NM_182548.4(LHFPL5):c.*609G>A rs1039461994 0.00001
NM_182548.4(LHFPL5):c.-305G>A rs886061340 0.00001
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) rs886061343 0.00001
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) rs147162459 0.00001
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) rs372084864 0.00001
NM_194248.3(OTOF):c.*867C>T rs578132477 0.00001
NM_194248.3(OTOF):c.*936G>A rs556660734 0.00001
NM_194248.3(OTOF):c.1045+4A>G rs754376415 0.00001
NM_194248.3(OTOF):c.1100C>T (p.Ser367Leu) rs200985159 0.00001
NM_194248.3(OTOF):c.1350C>G (p.Asp450Glu) rs779693261 0.00001
NM_194248.3(OTOF):c.2106T>A (p.His702Gln) rs764458682 0.00001
NM_194248.3(OTOF):c.21C>A (p.Leu7=) rs545316807 0.00001
NM_194248.3(OTOF):c.2615T>C (p.Phe872Ser) rs773354262 0.00001
NM_194248.3(OTOF):c.2676+10G>C rs727503356 0.00001
NM_194248.3(OTOF):c.2807T>A (p.Val936Asp) rs758010380 0.00001
NM_194248.3(OTOF):c.2871G>A (p.Lys957=) rs1488516129 0.00001
NM_194248.3(OTOF):c.297G>A (p.Thr99=) rs397517941 0.00001
NM_194248.3(OTOF):c.3220G>A (p.Glu1074Lys) rs768889857 0.00001
NM_194248.3(OTOF):c.3230A>G (p.Gln1077Arg) rs749183807 0.00001
NM_194248.3(OTOF):c.3599C>T (p.Pro1200Leu) rs762316974 0.00001
NM_194248.3(OTOF):c.3662A>G (p.His1221Arg) rs1665081236 0.00001
NM_194248.3(OTOF):c.3749G>A (p.Arg1250His) rs755411269 0.00001
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350 0.00001
NM_194248.3(OTOF):c.4195G>A (p.Glu1399Lys) rs777285104 0.00001
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn) rs759839598 0.00001
NM_194248.3(OTOF):c.4561C>T (p.Leu1521=) rs905144471 0.00001
NM_194248.3(OTOF):c.5193-9T>C rs886055875 0.00001
NM_194248.3(OTOF):c.5632G>A (p.Val1878Met) rs757360892 0.00001
NM_194248.3(OTOF):c.5650A>G (p.Lys1884Glu) rs886055873 0.00001
NM_194248.3(OTOF):c.576A>G (p.Gln192=) rs886055880 0.00001
NM_194248.3(OTOF):c.591G>A (p.Pro197=) rs779916426 0.00001
NM_194248.3(OTOF):c.611A>C (p.Asp204Ala) rs756388245 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_194248.3(OTOF):c.670G>T (p.Ala224Ser) rs756684403 0.00001
NM_198999.3(SLC26A5):c.1061C>A (p.Thr354Asn) rs755628714 0.00001
NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln) rs201060425 0.00001
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr) rs1346488074 0.00001
NC_000005.9:g.(?_140896398)_(140998501_?)dup
NC_000005.9:g.(?_140896418)_(140998481_?)dup
NC_000005.9:g.(?_140953039)_(140954733_?)dup
NC_000005.9:g.(?_140967771)_(140967837_?)del
NC_000006.11:g.(?_24174958)_(24178880_?)dup
NC_000006.11:g.(?_24291140)_(24291326_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NC_000014.8:g.(?_60976117)_(61191013_?)dup
NC_000014.8:g.(?_60976117)_(61447691_?)del
NC_000016.9:g.(?_1822222)_(2550959_?)dup
NC_000016.9:g.(?_2098597)_(2550979_?)dup
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NC_000016.9:g.(?_2546150)_(2550959_?)dup
NC_000016.9:g.(?_2549338)_(2550959_?)dup
NC_000017.10:g.(?_79477716)_(79479380_?)dup
NM_000245.4(MET):c.1008C>G (p.Ser336Arg) rs1584878137
NM_000245.4(MET):c.1046G>A (p.Ser349Asn) rs1584878246
NM_000245.4(MET):c.1056T>G (p.Asp352Glu) rs2116604421
NM_000245.4(MET):c.105G>T (p.Met35Ile)
NM_000245.4(MET):c.1063G>C (p.Glu355Gln)
NM_000245.4(MET):c.1090G>A (p.Ala364Thr) rs200016433
NM_000245.4(MET):c.1114G>A (p.Asp372Asn) rs773200558
NM_000245.4(MET):c.1136A>G (p.Asn379Ser) rs1320718414
NM_000245.4(MET):c.1157T>G (p.Leu386Arg) rs1554379180
NM_000245.4(MET):c.1174C>A (p.Pro392Thr) rs886061943
NM_000245.4(MET):c.1250G>A (p.Arg417Gln) rs2116780504
NM_000245.4(MET):c.1268C>A (p.Ala423Asp)
NM_000245.4(MET):c.1312C>G (p.Leu438Val) rs587780733
NM_000245.4(MET):c.1330A>G (p.Thr444Ala) rs2116782829
NM_000245.4(MET):c.1347C>A (p.Asp449Glu) rs2116783251
NM_000245.4(MET):c.135C>G (p.Asn45Lys) rs1562883006
NM_000245.4(MET):c.1363C>A (p.Leu455Ile) rs780077898
NM_000245.4(MET):c.1388T>C (p.Met463Thr)
NM_000245.4(MET):c.1421C>A (p.Thr474Asn) rs1554390902
NM_000245.4(MET):c.1427A>T (p.His476Leu)
NM_000245.4(MET):c.1430T>A (p.Val477Glu) rs1197127761
NM_000245.4(MET):c.1459T>A (p.Ser487Thr) rs1584922045
NM_000245.4(MET):c.146A>C (p.Glu49Ala) rs370499060
NM_000245.4(MET):c.1472T>C (p.Ile491Thr) rs561588772
NM_000245.4(MET):c.1484C>G (p.Thr495Arg) rs45585831
NM_000245.4(MET):c.1568T>C (p.Phe523Ser) rs1793420216
NM_000245.4(MET):c.1597C>A (p.Pro533Thr) rs1793422040
NM_000245.4(MET):c.1610A>G (p.Gln537Arg)
NM_000245.4(MET):c.1627G>A (p.Asp543Asn) rs763991073
NM_000245.4(MET):c.16G>T (p.Val6Leu) rs1395233386
NM_000245.4(MET):c.1789G>C (p.Asp597His) rs769073123
NM_000245.4(MET):c.1789G>T (p.Asp597Tyr) rs769073123
NM_000245.4(MET):c.1801A>G (p.Thr601Ala) rs1216005099
NM_000245.4(MET):c.181C>G (p.His61Asp) rs368942722
NM_000245.4(MET):c.184A>G (p.Ile62Val)
NM_000245.4(MET):c.1867A>C (p.Lys623Gln)
NM_000245.4(MET):c.1898A>T (p.His633Leu) rs45586239
NM_000245.4(MET):c.191T>C (p.Leu64Pro)
NM_000245.4(MET):c.1933G>A (p.Gly645Arg) rs763849125
NM_000245.4(MET):c.194G>T (p.Gly65Val)
NM_000245.4(MET):c.200C>A (p.Thr67Asn)
NM_000245.4(MET):c.2015G>A (p.Gly672Asp) rs2116923826
NM_000245.4(MET):c.2101A>C (p.Ser701Arg)
NM_000245.4(MET):c.2131A>T (p.Thr711Ser)
NM_000245.4(MET):c.2191C>T (p.Arg731Ter) rs377336878
NM_000245.4(MET):c.229G>A (p.Asp77Asn) rs372320153
NM_000245.4(MET):c.2363T>A (p.Val788Glu)
NM_000245.4(MET):c.2375A>C (p.His792Pro) rs980467681
NM_000245.4(MET):c.2375A>G (p.His792Arg) rs980467681
NM_000245.4(MET):c.2389G>A (p.Glu797Lys) rs1307693651
NM_000245.4(MET):c.2396_2404del (p.Ile799_Cys801del)
NM_000245.4(MET):c.2432T>A (p.Leu811Gln) rs1554396554
NM_000245.4(MET):c.2488T>C (p.Tyr830His) rs1794468017
NM_000245.4(MET):c.2510A>G (p.His837Arg) rs1041349799
NM_000245.4(MET):c.2528C>T (p.Pro843Leu) rs762228405
NM_000245.4(MET):c.2555T>C (p.Met852Thr) rs369758288
NM_000245.4(MET):c.2588A>G (p.Asn863Ser) rs1794766796
NM_000245.4(MET):c.2608G>A (p.Val870Ile)
NM_000245.4(MET):c.2662C>G (p.His888Asp) rs115574135
NM_000245.4(MET):c.278C>G (p.Pro93Arg) rs1306740707
NM_000245.4(MET):c.2821A>G (p.Ile941Val)
NM_000245.4(MET):c.2893G>A (p.Gly965Ser) rs1413209214
NM_000245.4(MET):c.2960G>A (p.Arg987Gln) rs910937816
NM_000245.4(MET):c.2983A>G (p.Met995Val) rs1794849768
NM_000245.4(MET):c.298G>C (p.Asp100His) rs1554378400
NM_000245.4(MET):c.3035T>C (p.Phe1012Ser) rs1794945602
NM_000245.4(MET):c.3065G>T (p.Arg1022Leu) rs45612435
NM_000245.4(MET):c.3109A>G (p.Ser1037Gly) rs1794948966
NM_000245.4(MET):c.3151G>C (p.Val1051Leu)
NM_000245.4(MET):c.3212T>C (p.Ile1071Thr)
NM_000245.4(MET):c.3304G>A (p.Gly1102Ser)
NM_000245.4(MET):c.3307A>G (p.Lys1103Glu)
NM_000245.4(MET):c.3352A>G (p.Ile1118Val) rs755234697
NM_000245.4(MET):c.348C>G (p.Ile116Met) rs2116586543
NM_000245.4(MET):c.3493C>T (p.Leu1165Phe)
NM_000245.4(MET):c.3520C>T (p.His1174Tyr) rs1795074297
NM_000245.4(MET):c.3545T>C (p.Ile1182Thr) rs1795171887
NM_000245.4(MET):c.3656A>G (p.Lys1219Arg)
NM_000245.4(MET):c.3682G>T (p.Asp1228Tyr)
NM_000245.4(MET):c.3748A>T (p.Met1250Leu)
NM_000245.4(MET):c.3781A>T (p.Thr1261Ser)
NM_000245.4(MET):c.37G>T (p.Val13Leu)
NM_000245.4(MET):c.38T>C (p.Val13Ala)
NM_000245.4(MET):c.3943G>A (p.Val1315Ile)
NM_000245.4(MET):c.3983C>T (p.Pro1328Leu) rs755043272
NM_000245.4(MET):c.4015G>C (p.Ala1339Pro) rs1795658722
NM_000245.4(MET):c.401G>A (p.Gly134Asp) rs2116587889
NM_000245.4(MET):c.4055T>A (p.Val1352Glu)
NM_000245.4(MET):c.4066T>C (p.Tyr1356His)
NM_000245.4(MET):c.4078A>G (p.Lys1360Glu) rs1795661591
NM_000245.4(MET):c.4115A>C (p.Glu1372Ala) rs1584978594
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys) rs370767911
NM_000245.4(MET):c.4141A>G (p.Thr1381Ala) rs1292389793
NM_000245.4(MET):c.4145G>C (p.Arg1382Pro) rs752694306
NM_000245.4(MET):c.539T>A (p.Leu180Gln)
NM_000245.4(MET):c.611C>T (p.Ser204Phe)
NM_000245.4(MET):c.640A>G (p.Ile214Val) rs786203065
NM_000245.4(MET):c.654G>T (p.Arg218Ser) rs35284565
NM_000245.4(MET):c.683T>C (p.Phe228Ser)
NM_000245.4(MET):c.721T>C (p.Phe241Leu) rs746216803
NM_000245.4(MET):c.768C>A (p.Asn256Lys)
NM_000245.4(MET):c.799G>A (p.Glu267Lys) rs755954919
NM_000245.4(MET):c.803C>A (p.Thr268Asn)
NM_000245.4(MET):c.803C>G (p.Thr268Ser)
NM_000245.4(MET):c.839G>C (p.Arg280Thr)
NM_000245.4(MET):c.916A>C (p.Lys306Gln) rs1032682239
NM_000245.4(MET):c.925A>C (p.Thr309Pro) rs35601148
NM_000245.4(MET):c.949C>A (p.Leu317Ile) rs750531377
NM_000245.4(MET):c.982C>A (p.Gln328Lys)
NM_000260.4(MYO7A):c.*416C>T rs549702559
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.1165G>A (p.Glu389Lys) rs782227657
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
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.1242C>T (p.Ile414=) rs886048673
NM_000260.4(MYO7A):c.132+6T>C rs781852295
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1343+8G>T rs2276278
NM_000260.4(MYO7A):c.1344-7C>G rs886048674
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554G>A (p.Lys518=) rs886048675
NM_000260.4(MYO7A):c.156C>G (p.Asn52Lys) rs886048669
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.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1719G>T (p.Leu573=) rs781881163
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.185C>T (p.Thr62Met) rs782412089
NM_000260.4(MYO7A):c.1942G>A (p.Asp648Asn) rs1555078826
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1981ATG[1] (p.Met662del)
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) rs368575149
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr) rs1954489249
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His) rs782176754
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro) rs782176754
NM_000260.4(MYO7A):c.2165G>T (p.Gly722Val)
NM_000260.4(MYO7A):c.2410C>T (p.Arg804Trp) rs778880077
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His) rs782428224
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2699G>T (p.Arg900Leu)
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2758C>G (p.Arg920Gly) rs373089701
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_000260.4(MYO7A):c.2787G>A (p.Met929Ile) rs536410625
NM_000260.4(MYO7A):c.288G>T (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.2904G>A (p.Glu968=) rs111033233
NM_000260.4(MYO7A):c.295G>C (p.Gly99Arg)
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3008A>G (p.Lys1003Arg)
NM_000260.4(MYO7A):c.3028_3029insTACACCCGGTTGTCC (p.Phe1009_Gln1010insLeuHisProValVal) rs782367511
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3059G>A (p.Arg1020Gln)
NM_000260.4(MYO7A):c.3090C>A (p.Asp1030Glu) rs782192026
NM_000260.4(MYO7A):c.3109-15C>T rs369729874
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys) rs1955328510
NM_000260.4(MYO7A):c.3315C>A (p.Ser1105Arg)
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3551C>G (p.Ser1184Cys)
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3587C>G (p.Ser1196Cys)
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=) rs782694195
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3751-14T>C rs1955994846
NM_000260.4(MYO7A):c.3862G>T (p.Ala1288Ser) rs749747871
NM_000260.4(MYO7A):c.3886C>G (p.Arg1296Gly)
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.394C>T (p.Pro132Ser) rs1952429583
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
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.4118G>A (p.Arg1373Gln) rs886048677
NM_000260.4(MYO7A):c.4138T>C (p.Tyr1380His) rs2135577456
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
NM_000260.4(MYO7A):c.4313C>T (p.Ala1438Val) rs538178875
NM_000260.4(MYO7A):c.4338GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4432A>C (p.Lys1478Gln) rs1956761416
NM_000260.4(MYO7A):c.4450C>A (p.Leu1484Ile)
NM_000260.4(MYO7A):c.4630G>A (p.Gly1544Ser) rs886048678
NM_000260.4(MYO7A):c.4688C>T (p.Ala1563Val)
NM_000260.4(MYO7A):c.4689G>A (p.Ala1563=) rs759430551
NM_000260.4(MYO7A):c.4762G>A (p.Glu1588Lys) rs1181067492
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp) rs1957069970
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn) rs766461538
NM_000260.4(MYO7A):c.5037G>A (p.Glu1679=) rs886048679
NM_000260.4(MYO7A):c.5043G>A (p.Val1681=) rs1295009131
NM_000260.4(MYO7A):c.5088G>T (p.Arg1696=) rs886048680
NM_000260.4(MYO7A):c.5131C>G (p.Pro1711Ala)
NM_000260.4(MYO7A):c.5169-6C>A
NM_000260.4(MYO7A):c.5214C>A (p.Ala1738=) rs886048681
NM_000260.4(MYO7A):c.5221A>G (p.Lys1741Glu) rs1957185407
NM_000260.4(MYO7A):c.5327-10C>G rs781062618
NM_000260.4(MYO7A):c.5397C>A (p.Ile1799=) rs1957274964
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del) rs1957277819
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5589C>T (p.His1863=) rs727504024
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn)
NM_000260.4(MYO7A):c.5667G>C (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.571G>C (p.Glu191Gln) rs886048672
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.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.5945-9G>C rs1233077552
NM_000260.4(MYO7A):c.5950G>A (p.Val1984Met) rs377517717
NM_000260.4(MYO7A):c.5963C>T (p.Thr1988Ile) rs1957642204
NM_000260.4(MYO7A):c.5982G>A (p.Met1994Ile) rs1957644487
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.616C>G (p.Arg206Gly)
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6325A>C (p.Thr2109Pro) rs2135791193
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.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6464C>T (p.Thr2155Ile) rs1408119204
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6512T>C (p.Ile2171Thr) rs1591515086
NM_000260.4(MYO7A):c.6545G>C (p.Cys2182Ser) rs1382157968
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.701A>G (p.Gln234Arg)
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_000260.4(MYO7A):c.843G>A (p.Leu281=) rs1555064274
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) rs1178113212
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)
NM_000441.1(SLC26A4):c.-40C>T rs1427132581
NM_000441.2(SLC26A4):c.*1558T>C rs1792362693
NM_000441.2(SLC26A4):c.*1563C>A rs943006929
NM_000441.2(SLC26A4):c.*1610C>T rs192222034
NM_000441.2(SLC26A4):c.*1640G>T rs886061891
NM_000441.2(SLC26A4):c.*1672G>A rs1006081417
NM_000441.2(SLC26A4):c.*1700A>T rs1184586296
NM_000441.2(SLC26A4):c.*1789G>A rs190337640
NM_000441.2(SLC26A4):c.*1868C>G rs1037624606
NM_000441.2(SLC26A4):c.*1875G>C rs886061892
NM_000441.2(SLC26A4):c.*1945G>A rs75194818
NM_000441.2(SLC26A4):c.*201C>A rs761988423
NM_000441.2(SLC26A4):c.*2250_*2251del rs886061895
NM_000441.2(SLC26A4):c.*397T>C rs1792332700
NM_000441.2(SLC26A4):c.-8G>A rs886061882
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.164G>C (p.Ser55Thr)
NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met) rs908303704
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.190G>A (p.Val64Met) rs1790616677
NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr) rs747919826
NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly) rs886061887
NM_000441.2(SLC26A4):c.2030G>C (p.Arg677Pro)
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn) rs145805875
NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser) rs772522003
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2236-6T>C rs1409309832
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys) rs764791809
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr) rs1790885512
NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu) rs1790887971
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000441.2(SLC26A4):c.540T>G (p.Ala180=) rs1790957218
NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val) rs2129311931
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala) rs775490005
NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn) rs886061884
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
NM_000601.6(HGF):c.983G>T (p.Arg328Leu) rs374484762
NM_000899.5(KITLG):c.2T>A (p.Met1Lys)
NM_001001331.4(ATP2B2):c.1046A>G (p.Lys349Arg)
NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)
NM_001001331.4(ATP2B2):c.919G>A (p.Gly307Arg)
NM_001031679.3(MSRB3):c.-51-1502G>A rs2136420609
NM_001031679.3(MSRB3):c.238GTT[1] (p.Val81del)
NM_001031679.3(MSRB3):c.383G>A (p.Cys128Tyr)
NM_001038603.3(MARVELD2):c.*157T>C rs374775664
NM_001038603.3(MARVELD2):c.*346C>G rs1767342960
NM_001038603.3(MARVELD2):c.*376C>T rs756402195
NM_001038603.3(MARVELD2):c.*8T>G rs1767331338
NM_001038603.3(MARVELD2):c.*97C>T rs568296893
NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) rs886060733
NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) rs886060734
NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) rs1766998325
NM_001038603.3(MARVELD2):c.1554+286T>C
NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) rs151176949
NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) rs886060731
NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) rs886060732
NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) rs1766579334
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) rs1924587856
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039141.3(TRIOBP):c.5422A>G (p.Lys1808Glu) rs2145866277
NM_001039141.3(TRIOBP):c.5519G>T (p.Arg1840Leu)
NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
NM_001039213.4(CEACAM16):c.-8G>A rs1355072516
NM_001039876.3(SYNE4):c.458G>A (p.Arg153His)
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr) rs200018583
NM_001042517.2(DIAPH3):c.2084_2088del (p.Glu695fs) rs749068924
NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)
NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)
NM_001042517.2(DIAPH3):c.598C>T (p.Arg200Ter) rs781626494
NM_001042517.2(DIAPH3):c.626+14T>C
NM_001042702.5(PJVK):c.-49G>T rs886055211
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001042702.5(PJVK):c.450C>T (p.Ser150=) rs1684057503
NM_001042702.5(PJVK):c.505T>A (p.Cys169Ser)
NM_001042702.5(PJVK):c.525T>G (p.Ala175=) rs1684063153
NM_001042702.5(PJVK):c.753C>A (p.Ile251=) rs886055212
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212
NM_001042702.5(PJVK):c.880C>A (p.His294Asn) rs2154126353
NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro) rs532114292
NM_001046.3(SLC12A2):c.1127A>G (p.Asn376Ser) rs116621105
NM_001046.3(SLC12A2):c.2848G>A (p.Val950Met) rs760024899
NM_001046.3(SLC12A2):c.288GGC[10] (p.Ala105_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.288GGC[11] (p.Ala104_Ala107dup) rs746633185
NM_001046.3(SLC12A2):c.2930-5T>A
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) rs1581138965
NM_001046.3(SLC12A2):c.3364A>G (p.Ile1122Val)
NM_001046.3(SLC12A2):c.3622C>G (p.Leu1208Val) rs761150347
NM_001046.3(SLC12A2):c.881G>A (p.Arg294His) rs1484832467
NM_001079827.2(CLRN2):c.236G>T (p.Arg79Leu) rs200144103
NM_001080476.3(GRXCR1):c.385-7C>T rs748066741
NM_001080476.3(GRXCR1):c.604T>C (p.Phe202Leu) rs886059418
NM_001080476.3(GRXCR1):c.745C>G (p.Pro249Ala) rs886059419
NM_001080476.3(GRXCR1):c.858G>T (p.Lys286Asn) rs886059420
NM_001099439.2(EPHA10):c.541G>T (p.Gly181Ter)
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001127453.2(GSDME):c.*239T>C rs1788738667
NM_001127453.2(GSDME):c.*260A>G rs886062223
NM_001127453.2(GSDME):c.*299A>G rs577672103
NM_001127453.2(GSDME):c.*326C>A rs554412975
NM_001127453.2(GSDME):c.*333T>G rs534617327
NM_001127453.2(GSDME):c.*583T>G rs886062222
NM_001127453.2(GSDME):c.1016C>G (p.Ser339Trp) rs755785416
NM_001127453.2(GSDME):c.1193_1196dup (p.Ser399delinsArgTer) rs757421220
NM_001127453.2(GSDME):c.1253A>G (p.His418Arg) rs886062225
NM_001127453.2(GSDME):c.1441C>A (p.Leu481Ile)
NM_001127453.2(GSDME):c.1454T>G (p.Leu485Arg)
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127453.2(GSDME):c.275T>G (p.Leu92Arg) rs865905505
NM_001127453.2(GSDME):c.314dup (p.Ser106fs) rs755613828
NM_001127453.2(GSDME):c.356G>A (p.Arg119Lys) rs1349632914
NM_001127453.2(GSDME):c.358A>C (p.Lys120Gln) rs886062227
NM_001127453.2(GSDME):c.685G>A (p.Asp229Asn) rs775179954
NM_001127453.2(GSDME):c.725G>A (p.Gly242Asp)
NM_001127453.2(GSDME):c.868del (p.Leu290fs)
NM_001127453.2(GSDME):c.991T>C (p.Cys331Arg) rs373787249
NM_001135022.2(ELMOD3):c.1031C>T (p.Ser344Phe)
NM_001135022.2(ELMOD3):c.421G>A (p.Gly141Arg)
NM_001142966.3(GREB1L):c.1426G>A (p.Glu476Lys)
NM_001142966.3(GREB1L):c.1708G>A (p.Val570Met)
NM_001142966.3(GREB1L):c.2183-2A>G
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) rs1333304296
NM_001142966.3(GREB1L):c.5362C>A (p.Leu1788Ile)
NM_001142966.3(GREB1L):c.683C>T (p.Ser228Phe)
NM_001145026.2(PTPRQ):c.1540+5G>A
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145026.2(PTPRQ):c.3873+5G>T rs1896196662
NM_001145026.2(PTPRQ):c.3974A>T (p.Asn1325Ile)
NM_001145026.2(PTPRQ):c.4534_4536dup (p.Phe1512_Gln1513insPhe)
NM_001145026.2(PTPRQ):c.5606A>G (p.Gln1869Arg) rs1275679740
NM_001145026.2(PTPRQ):c.5728G>A (p.Val1910Ile)
NM_001145026.2(PTPRQ):c.5893C>A (p.Leu1965Met)
NM_001145026.2(PTPRQ):c.5971C>T (p.His1991Tyr)
NM_001145026.2(PTPRQ):c.6113C>T (p.Pro2038Leu) rs1900298602
NM_001145026.2(PTPRQ):c.6325C>T (p.Arg2109Trp)
NM_001145026.2(PTPRQ):c.6452_6453+2del rs1419198127
NM_001145026.2(PTPRQ):c.6602G>A (p.Ser2201Asn) rs2121285243
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.731C>T (p.Ser244Leu)
NM_001145308.4(LRTOMT):c.-409G>A rs886048624
NM_001145308.4(LRTOMT):c.-481G>T rs886048623
NM_001145308.4(LRTOMT):c.-703C>G rs918454674
NM_001145308.4(LRTOMT):c.-725T>G rs990462302
NM_001145308.4(LRTOMT):c.-761C>T rs1944076918
NM_001145308.4(LRTOMT):c.-816C>T rs535003776
NM_001145308.5(LRTOMT):c.*1400dup rs561551303
NM_001145308.5(LRTOMT):c.*1488T>G rs932792064
NM_001145308.5(LRTOMT):c.*1773C>T rs561162900
NM_001145308.5(LRTOMT):c.*1788C>G rs886048640
NM_001145308.5(LRTOMT):c.*205C>T rs1946063829
NM_001145308.5(LRTOMT):c.*244C>A rs538247137
NM_001145308.5(LRTOMT):c.*262CT[1] rs561766061
NM_001145308.5(LRTOMT):c.*601A>C rs116397624
NM_001145308.5(LRTOMT):c.*622C>T rs776032348
NM_001145308.5(LRTOMT):c.*860G>A rs1946187692
NM_001145308.5(LRTOMT):c.-16del rs886048628
NM_001145308.5(LRTOMT):c.-322+1G>T rs1565309133
NM_001145308.5(LRTOMT):c.179T>C (p.Leu60Pro)
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145308.5(LRTOMT):c.459G>A (p.Leu153=) rs886048630
NM_001145308.5(LRTOMT):c.460C>G (p.Pro154Ala) rs1288510412
NM_001145308.5(LRTOMT):c.592C>T (p.Pro198Ser) rs886048632
NM_001145308.5(LRTOMT):c.860A>G (p.Tyr287Cys) rs886048635
NM_001145308.5(LRTOMT):c.872G>A (p.Gly291Asp) rs886048636
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.1295A>T (p.Glu432Val)
NM_001145319.2(PLS1):c.1658T>A (p.Val553Asp) rs1283780796
NM_001145319.2(PLS1):c.544A>G (p.Ile182Val)
NM_001145319.2(PLS1):c.557dup (p.Leu187fs)
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) rs1577888985
NM_001145809.2(MYH14):c.*142C>G rs770209944
NM_001145809.2(MYH14):c.*531C>T rs886054598
NM_001145809.2(MYH14):c.*604G>A rs2036823566
NM_001145809.2(MYH14):c.-15C>G rs2031567286
NM_001145809.2(MYH14):c.-17G>T rs905967494
NM_001145809.2(MYH14):c.-31C>T rs989700100
NM_001145809.2(MYH14):c.10G>A (p.Val4Met) rs532458856
NM_001145809.2(MYH14):c.1114+13C>G rs11666328
NM_001145809.2(MYH14):c.1586A>C (p.Glu529Ala) rs2034291097
NM_001145809.2(MYH14):c.1843G>T (p.Ala615Ser) rs1322815305
NM_001145809.2(MYH14):c.192G>A (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.2068C>G (p.Gln690Glu) rs370124751
NM_001145809.2(MYH14):c.2251C>T (p.Arg751Trp) rs772570358
NM_001145809.2(MYH14):c.2257G>T (p.Val753Leu) rs367822041
NM_001145809.2(MYH14):c.2279A>G (p.Asn760Ser) rs886054589
NM_001145809.2(MYH14):c.2299C>T (p.Arg767Cys) rs28940307
NM_001145809.2(MYH14):c.2383C>A (p.Pro795Thr) rs2034792345
NM_001145809.2(MYH14):c.2429A>C (p.Gln810Pro) rs2034872038
NM_001145809.2(MYH14):c.2505G>A (p.Gln835=) rs781160513
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.2748C>T (p.Ala916=) rs886054590
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
NM_001145809.2(MYH14):c.2941G>A (p.Val981Met) rs886054591
NM_001145809.2(MYH14):c.3490C>A (p.Arg1164=) rs984856121
NM_001145809.2(MYH14):c.3603C>T (p.Asp1201=) rs757735473
NM_001145809.2(MYH14):c.4152G>A (p.Glu1384=) rs727504965
NM_001145809.2(MYH14):c.440C>T (p.Pro147Leu) rs886054587
NM_001145809.2(MYH14):c.4624C>T (p.Arg1542Trp) rs553628577
NM_001145809.2(MYH14):c.4645G>A (p.Ala1549Thr) rs2035897043
NM_001145809.2(MYH14):c.4681G>A (p.Glu1561Lys) rs761025607
NM_001145809.2(MYH14):c.4693C>A (p.Arg1565=) rs769989306
NM_001145809.2(MYH14):c.5380G>A (p.Gly1794Arg)
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His) rs567922009
NM_001145809.2(MYH14):c.547C>T (p.Arg183Trp)
NM_001145809.2(MYH14):c.595G>C (p.Glu199Gln) rs1263172577
NM_001145809.2(MYH14):c.5961-4A>C rs1258855314
NM_001145809.2(MYH14):c.5965G>C (p.Gly1989Arg) rs1409838865
NM_001145809.2(MYH14):c.5981C>A (p.Thr1994Asn)
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.825C>T (p.Arg275=) rs2033134813
NM_001145809.2(MYH14):c.866T>C (p.Ile289Thr) rs777836668
NM_001146079.2(CLDN14):c.*222T>C rs2086555750
NM_001146079.2(CLDN14):c.-187C>T rs886057054
NM_001146079.2(CLDN14):c.-531G>A rs372584176
NM_001146079.2(CLDN14):c.-645G>T rs886057057
NM_001146079.2(CLDN14):c.-75G>T rs537529014
NM_001146079.2(CLDN14):c.-82+9G>C rs886057052
NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) rs756218341
NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) rs886057049
NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) rs746102559
NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) rs756847536
NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) rs2086563574
NM_001146079.2(CLDN14):c.639_645del (p.Ala215fs)
NM_001146079.2(CLDN14):c.664del (p.Ala222fs) rs761918152
NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) rs886057050
NM_001191057.4(PDE1C):c.1071G>T (p.Gln357His)
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2005+6_2005+9del
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) rs1852358426
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) rs1025144704
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) rs758884514
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) rs145910584
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) rs200730376
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
NM_001195263.2(PDZD7):c.881A>G (p.Tyr294Cys)
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp) rs1159971280
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val) rs2141874280
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met) rs769656369
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu) rs2141874400
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His) rs2065761961
NM_001199107.2(TBC1D24):c.1102C>G (p.Leu368Val)
NM_001199107.2(TBC1D24):c.1104G>T (p.Leu368=)
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser) rs2141874469
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1188C>G (p.Ile396Met)
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup) rs752216831
NM_001199107.2(TBC1D24):c.119G>C (p.Arg40Pro)
NM_001199107.2(TBC1D24):c.1205A>C (p.Glu402Ala) rs2065771759
NM_001199107.2(TBC1D24):c.1207-19A>G
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)
NM_001199107.2(TBC1D24):c.1228A>G (p.Thr410Ala)
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn) rs2065776034
NM_001199107.2(TBC1D24):c.1244G>A (p.Arg415Lys)
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys) rs776176742
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1282G>A (p.Gly428Arg)
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)
NM_001199107.2(TBC1D24):c.1299T>A (p.Phe433Leu)
NM_001199107.2(TBC1D24):c.1303-5C>A rs1468286638
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1342A>G (p.Lys448Glu)
NM_001199107.2(TBC1D24):c.1358C>T (p.Thr453Ile)
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala) rs2065781206
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1369C>T (p.Pro457Ser)
NM_001199107.2(TBC1D24):c.1393G>T (p.Ala465Ser)
NM_001199107.2(TBC1D24):c.1396C>G (p.Pro466Ala)
NM_001199107.2(TBC1D24):c.1399C>T (p.Leu467Phe)
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr) rs2065781840
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu) rs2065782431
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1454C>T (p.Ala485Val)
NM_001199107.2(TBC1D24):c.1459C>T (p.His487Tyr)
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser) rs1326854687
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr) rs2141877364
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val) rs2065783244
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val) rs2065783330
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)
NM_001199107.2(TBC1D24):c.1525+6C>A
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>A (p.Gly509Glu)
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1538G>A (p.Gly513Asp)
NM_001199107.2(TBC1D24):c.1550A>G (p.Tyr517Cys)
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val)
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn)
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu) rs755313242
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=) rs971385188
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn) rs2065787303
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs) rs1567414972
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser) rs2065788002
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)
NM_001199107.2(TBC1D24):c.1642G>T (p.Val548Leu)
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.16T>C (p.Tyr6His)
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.179G>C (p.Arg60Pro)
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)
NM_001199107.2(TBC1D24):c.184A>G (p.Ile62Val)
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser) rs952274725
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg) rs371245371
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val) rs2141870575
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn) rs2141871042
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)
NM_001199107.2(TBC1D24):c.229A>T (p.Ile77Phe)
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met) rs747915584
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp) rs2065739166
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr) rs2065739166
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly) rs2065739291
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn) rs2065739388
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)
NM_001199107.2(TBC1D24):c.285C>G (p.Phe95Leu)
NM_001199107.2(TBC1D24):c.286G>A (p.Val96Met)
NM_001199107.2(TBC1D24):c.286G>C (p.Val96Leu)
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met)
NM_001199107.2(TBC1D24):c.299A>G (p.Gln100Arg)
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)
NM_001199107.2(TBC1D24):c.348G>T (p.Lys116Asn)
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser) rs1457138817
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=) rs752594126
NM_001199107.2(TBC1D24):c.370C>A (p.Gln124Lys) rs2141871461
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.376C>T (p.Pro126Ser)
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp) rs777604231
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val) rs2065741608
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro) rs2065741689
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu) rs200263150
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val) rs1274130724
NM_001199107.2(TBC1D24):c.430T>C (p.Tyr144His)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn) rs2141871675
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val) rs2065742678
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp) rs1169312508
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_001199107.2(TBC1D24):c.487G>T (p.Asp163Tyr)
NM_001199107.2(TBC1D24):c.490C>T (p.Pro164Ser)
NM_001199107.2(TBC1D24):c.493G>T (p.Gly165Cys)
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)
NM_001199107.2(TBC1D24):c.523G>C (p.Ala175Pro) rs2141871916
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp) rs2065744128
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly) rs2065744128
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) rs483352866
NM_001199107.2(TBC1D24):c.538T>C (p.Cys180Arg)
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del) rs1215641557
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.585C>G (p.His195Gln)
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.596T>C (p.Val199Ala)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His) rs876658012
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr) rs2141872095
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr) rs1441237124
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro) rs2065745991
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg) rs2141870701
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys)
NM_001199107.2(TBC1D24):c.719T>G (p.Leu240Arg)
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn) rs190306450
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp) rs1440897868
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys) rs369120050
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu) rs2065735848
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln) rs2065747894
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His) rs2065747955
NM_001199107.2(TBC1D24):c.790A>G (p.Ser264Gly)
NM_001199107.2(TBC1D24):c.791G>A (p.Ser264Asn)
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu) rs772768393
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met) rs1328684138
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del) rs2141872549
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly) rs2141872557
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)
NM_001199107.2(TBC1D24):c.842C>A (p.Ser281Tyr)
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe) rs2065735946
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys) rs1351414664
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala) rs2065736000
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.890G>T (p.Arg297Leu) rs760666914
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr) rs2141872755
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln) rs2141872821
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn) rs2141872825
NM_001199107.2(TBC1D24):c.965+4G>C rs781629915
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410
NM_001199107.2(TBC1D24):c.966-10T>A rs1217245218
NM_001199107.2(TBC1D24):c.967G>A (p.Val323Met)
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu) rs1567412736
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr) rs2141873571
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=) rs774492330
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)
NM_001199799.2(ILDR1):c.1291_1305delinsGTGAGG (p.Arg431_Ser435delinsValArg)
NM_001199799.2(ILDR1):c.1301C>T (p.Pro434Leu) rs760257421
NM_001199799.2(ILDR1):c.1358G>A (p.Arg453Gln)
NM_001199799.2(ILDR1):c.779-6A>G
NM_001243133.2(NLRP3):c.1090C>T (p.Arg364Trp) rs994458759
NM_001243133.2(NLRP3):c.1153T>C (p.Ser385Pro) rs199680838
NM_001243133.2(NLRP3):c.1153T>G (p.Ser385Ala) rs199680838
NM_001243133.2(NLRP3):c.127C>T (p.Gln43Ter) rs1558185400
NM_001243133.2(NLRP3):c.2012G>C (p.Cys671Ser) rs199885115
NM_001243133.2(NLRP3):c.2047C>T (p.His683Tyr) rs2103113675
NM_001243133.2(NLRP3):c.2299G>A (p.Gly767Ser) rs866534904
NM_001243133.2(NLRP3):c.2330G>A (p.Arg777His) rs1663599540
NM_001243133.2(NLRP3):c.2342C>T (p.Ser781Leu) rs201969526
NM_001243133.2(NLRP3):c.2387A>G (p.Gln796Arg) rs2103162880
NM_001243133.2(NLRP3):c.2630C>G (p.Ala877Gly)
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn) rs876660975
NM_001243133.2(NLRP3):c.2834+1G>A rs1572228102
NM_001243133.2(NLRP3):c.2908C>T (p.Arg970Ter) rs1450171900
NM_001243133.2(NLRP3):c.564C>A (p.Ile188=) rs147631017
NM_001256317.3(TMPRSS3):c.*177A>C rs886057093
NM_001256317.3(TMPRSS3):c.*397C>A rs886057092
NM_001256317.3(TMPRSS3):c.*576G>A rs886057091
NM_001256317.3(TMPRSS3):c.*750C>A rs2052343735
NM_001256317.3(TMPRSS3):c.*782G>A rs1413686744
NM_001256317.3(TMPRSS3):c.-131G>C rs56369547
NM_001256317.3(TMPRSS3):c.1048+5G>A rs1209308277
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1192-8T>C rs751114709
NM_001256317.3(TMPRSS3):c.1192G>A (p.Gly398Arg)
NM_001256317.3(TMPRSS3):c.1235G>A (p.Trp412Ter) rs778939088
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.133C>A (p.Pro45Thr)
NM_001256317.3(TMPRSS3):c.372G>A (p.Ser124=) rs141682398
NM_001256317.3(TMPRSS3):c.383T>C (p.Met128Thr)
NM_001256317.3(TMPRSS3):c.446+41_446+44del
NM_001256317.3(TMPRSS3):c.450T>C (p.Tyr150=) rs2052620435
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.620G>A (p.Cys207Tyr)
NM_001256317.3(TMPRSS3):c.782+5G>C
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe) rs1852532958
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4132C>T (p.Arg1378Trp) rs561534995
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001292063.2(OTOG):c.540G>T (p.Gln180His)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg) rs770170338
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.7480+6T>C rs1854206287
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001292063.2(OTOG):c.996G>T (p.Gln332His) rs1294149176
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val) rs1907257569
NM_001304438.2(TMEM132E):c.1705G>A (p.Glu569Lys)
NM_001371333.1(DIABLO):c.219G>C (p.Leu73Phe) rs1566025862
NM_001371333.1(DIABLO):c.234_235del (p.Ser79fs)
NM_001371333.1(DIABLO):c.605G>A (p.Arg202Gln)
NM_001375524.1(TRRAP):c.11291C>T (p.Ala3764Val)
NM_001375524.1(TRRAP):c.2573_2577del (p.Pro858fs)
NM_001375524.1(TRRAP):c.4804A>G (p.Lys1602Glu)
NM_001375524.1(TRRAP):c.5974A>C (p.Met1992Leu)
NM_001375524.1(TRRAP):c.711+5G>A
NM_001375524.1(TRRAP):c.8750T>C (p.Met2917Thr)
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) rs1245057200
NM_001376256.1(CRYM):c.251G>A (p.Gly84Asp)
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
NM_001376256.1(CRYM):c.421A>G (p.Ile141Val)
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
NM_001378457.1(DMXL2):c.430G>A (p.Glu144Lys)
NM_001378457.1(DMXL2):c.4475A>G (p.Lys1492Arg)
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr) rs778580507
NM_001378457.1(DMXL2):c.8362G>A (p.Val2788Ile)
NM_001378457.1(DMXL2):c.8527-15_8527-11dup rs2039518483
NM_001378609.3(OTOGL):c.1351G>C (p.Ala451Pro)
NM_001378609.3(OTOGL):c.1694A>G (p.Gln565Arg)
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys) rs1886838397
NM_001378609.3(OTOGL):c.4199+1G>A
NM_001378609.3(OTOGL):c.4741C>T (p.Gln1581Ter)
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr) rs962629988
NM_001378609.3(OTOGL):c.6235T>C (p.Cys2079Arg)
NM_001378609.3(OTOGL):c.6917A>G (p.Asn2306Ser) rs1592464237
NM_001378609.3(OTOGL):c.6949T>C (p.Cys2317Arg) rs1197672891
NM_001379180.1(ESRRB):c.*1519G>A rs1890600056
NM_001379180.1(ESRRB):c.*2721A>G rs1890645532
NM_001379180.1(ESRRB):c.*2945C>A rs886050809
NM_001379180.1(ESRRB):c.*2953C>T rs753110550
NM_001379180.1(ESRRB):c.*3064_*3066del rs533284372
NM_001379180.1(ESRRB):c.*3372G>C rs886050812
NM_001379180.1(ESRRB):c.1236G>A (p.Lys412=) rs1890514228
NM_001379180.1(ESRRB):c.226G>A (p.Gly76Ser) rs373173218
NM_001379180.1(ESRRB):c.260G>A (p.Gly87Glu) rs1887826180
NM_001379180.1(ESRRB):c.50+27963T>C rs886050804
NM_001379180.1(ESRRB):c.50+27968G>A rs1886083225
NM_001379180.1(ESRRB):c.50+28005T>C rs953298160
NM_001379180.1(ESRRB):c.578-4A>G rs753495127
NM_001379180.1(ESRRB):c.659T>C (p.Leu220Ser) rs886050806
NM_001379180.1(ESRRB):c.785C>A (p.Thr262Asn)
NM_001379180.1(ESRRB):c.796G>C (p.Asp266His) rs1595163029
NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_001384140.1(PCDH15):c.157+3_157+6del rs1308495572
NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) rs2133060549
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu) rs375282189
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2868+5G>A rs757993503
NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala) rs2134276764
NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) rs2086006894
NM_001384140.1(PCDH15):c.317A>T (p.Asp106Val) rs2135022416
NM_001384140.1(PCDH15):c.3285G>T (p.Leu1095=) rs374940427
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=) rs2133038894
NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys) rs2132762710
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_001384140.1(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_001384140.1(PCDH15):c.4308GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_001384140.1(PCDH15):c.4368-1360_4368-1359del rs886047056
NM_001384140.1(PCDH15):c.4368-1481_4368-1478dup rs886047057
NM_001384140.1(PCDH15):c.4368-1501dup rs548021914
NM_001384140.1(PCDH15):c.4671+1420del rs778088114
NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) rs570460962
NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer) rs770322907
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068
NM_001384474.1(LOXHD1):c.1191G>T (p.Trp397Cys) rs201033524
NM_001384474.1(LOXHD1):c.1323C>A (p.Thr441=) rs1599035715
NM_001384474.1(LOXHD1):c.1380C>G (p.Leu460=) rs750264813
NM_001384474.1(LOXHD1):c.1459T>C (p.Tyr487His) rs886053839
NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp) rs2144147870
NM_001384474.1(LOXHD1):c.1680C>T (p.Cys560=) rs2037927966
NM_001384474.1(LOXHD1):c.1714A>C (p.Asn572His) rs886053837
NM_001384474.1(LOXHD1):c.1751C>T (p.Thr584Met) rs747842788
NM_001384474.1(LOXHD1):c.1810-6C>A rs199804946
NM_001384474.1(LOXHD1):c.1810-6C>G rs199804946
NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)
NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_001384474.1(LOXHD1):c.1873G>A (p.Asp625Asn) rs2063664738
NM_001384474.1(LOXHD1):c.1875T>C (p.Asp625=) rs886053836
NM_001384474.1(LOXHD1):c.1894G>A (p.Gly632Ser) rs35088381
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001384474.1(LOXHD1):c.197C>T (p.Thr66Met) rs199536893
NM_001384474.1(LOXHD1):c.2096G>T (p.Ser699Ile) rs755207410
NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp) rs376539851
NM_001384474.1(LOXHD1):c.2386G>A (p.Gly796Arg) rs886053835
NM_001384474.1(LOXHD1):c.2468G>C (p.Gly823Ala) rs886053833
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) rs202178613
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln) rs745683775
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2708T>C (p.Val903Ala) rs375940400
NM_001384474.1(LOXHD1):c.2771G>C (p.Arg924Pro) rs140904207
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.2907G>A (p.Glu969=) rs886053831
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys) rs727504468
NM_001384474.1(LOXHD1):c.3281A>G (p.Asp1094Gly) rs543098936
NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp) rs2037387758
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del) rs1488153218
NM_001384474.1(LOXHD1):c.3619+9G>A rs576031049
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile) rs727504804
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met) rs546426989
NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) rs2144370861
NM_001384474.1(LOXHD1):c.3914-3C>T rs2036407024
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu) rs144935513
NM_001384474.1(LOXHD1):c.4136G>A (p.Gly1379Asp) rs756242236
NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) rs7244681
NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser) rs2144278857
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=) rs2036156768
NM_001384474.1(LOXHD1):c.4519G>A (p.Glu1507Lys) rs752123459
NM_001384474.1(LOXHD1):c.4690C>T (p.Leu1564Phe) rs573600473
NM_001384474.1(LOXHD1):c.4743G>A (p.Glu1581=) rs886053826
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu) rs369890906
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) rs1318916998
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg) rs374897301
NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr) rs200490958
NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs) rs1555669048
NM_001384474.1(LOXHD1):c.5272G>A (p.Val1758Ile) rs535485519
NM_001384474.1(LOXHD1):c.5272G>T (p.Val1758Phe) rs535485519
NM_001384474.1(LOXHD1):c.548T>C (p.Val183Ala) rs2038617630
NM_001384474.1(LOXHD1):c.5498C>G (p.Pro1833Arg) rs772058659
NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu) rs781097312
NM_001384474.1(LOXHD1):c.5891G>T (p.Gly1964Val) rs771725391
NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)
NM_001384474.1(LOXHD1):c.6050-14C>T rs886053823
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp) rs569341831
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn) rs1555653083
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) rs2032151816
NM_001384474.1(LOXHD1):c.6723C>T (p.Asn2241=) rs528843705
NM_001384474.1(LOXHD1):c.6743C>T (p.Thr2248Ile) rs779935366
NM_001384474.1(LOXHD1):c.6779G>C (p.Arg2260Pro) rs753209859
NM_001384474.1(LOXHD1):c.759+11C>T rs755171381
NM_001384474.1(LOXHD1):c.759+5G>A rs2144311627
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg)
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp)
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr)
NM_001614.5(ACTG1):c.123+5G>C
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) rs2143784086
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) rs2143783289
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser)
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.283C>T (p.Arg95Cys) rs2143783076
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln)
NM_001614.5(ACTG1):c.346dup (p.Arg116fs)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.364-3C>G
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala)
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) rs1555666823
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) rs1555666818
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) rs2143779284
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys)
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) rs781968214
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr)
NM_001614.5(ACTG1):c.485C>T (p.Thr162Met) rs2031771459
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) rs587780274
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) rs2143778304
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val)
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr)
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe)
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) rs782541695
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.753C>T (p.Gly251=)
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) rs2143775969
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser)
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr)
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp)
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter)
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) rs2143775561
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala)
NM_001614.5(ACTG1):c.914T>C (p.Met305Thr)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg)
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu)
NM_001614.5(ACTG1):c.946G>A (p.Glu316Lys)
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001854.4(COL11A1):c.1156T>C (p.Tyr386His)
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.1796A>G (p.Asp599Gly) rs2101851276
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.2897G>T (p.Gly966Val)
NM_001854.4(COL11A1):c.3375C>G (p.Asp1125Glu) rs17127270
NM_001854.4(COL11A1):c.3412G>A (p.Gly1138Ser) rs2101282529
NM_001854.4(COL11A1):c.344T>G (p.Leu115Arg)
NM_001854.4(COL11A1):c.388G>A (p.Glu130Lys) rs2102303130
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
NM_001854.4(COL11A1):c.4268G>T (p.Gly1423Val)
NM_001854.4(COL11A1):c.4465-5T>G
NM_001854.4(COL11A1):c.4859G>A (p.Gly1620Asp)
NM_001854.4(COL11A1):c.494A>G (p.His165Arg)
NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys) rs769329430
NM_001854.4(COL11A1):c.549GAA[1] (p.Lys185del) rs774335092
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser) rs201557468
NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys)
NM_002160.4(TNC):c.1004G>C (p.Gly335Ala)
NM_002160.4(TNC):c.1622G>A (p.Arg541His)
NM_002160.4(TNC):c.1973C>A (p.Pro658His)
NM_002160.4(TNC):c.2192A>C (p.Glu731Ala)
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
NM_002160.4(TNC):c.2795G>C (p.Gly932Ala) rs766474182
NM_002160.4(TNC):c.3442A>G (p.Ile1148Val)
NM_002160.4(TNC):c.4079G>A (p.Trp1360Ter)
NM_002160.4(TNC):c.4490G>C (p.Gly1497Ala)
NM_002160.4(TNC):c.5692G>A (p.Val1898Ile)
NM_002160.4(TNC):c.5978C>T (p.Thr1993Met)
NM_002160.4(TNC):c.6496-18del rs1419724369
NM_002160.4(TNC):c.6527A>G (p.Glu2176Gly)
NM_002160.4(TNC):c.848T>C (p.Leu283Pro)
NM_002160.4(TNC):c.890A>G (p.Asn297Ser) rs1554717312
NM_002241.5(KCNJ10):c.*1048A>T rs1648573456
NM_002241.5(KCNJ10):c.*1258G>A rs139904051
NM_002241.5(KCNJ10):c.*1809C>T rs781009174
NM_002241.5(KCNJ10):c.*1827T>C rs886045406
NM_002241.5(KCNJ10):c.*2394T>C rs116235450
NM_002241.5(KCNJ10):c.*2896T>C rs1648528740
NM_002241.5(KCNJ10):c.*2971G>A rs886045397
NM_002241.5(KCNJ10):c.*3023T>C rs886045396
NM_002241.5(KCNJ10):c.*3840T>C rs886045393
NM_002241.5(KCNJ10):c.*729G>C rs886045410
NM_002241.5(KCNJ10):c.*793C>A rs560891462
NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val) rs1648629565
NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala) rs17853258
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro) rs540341763
NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg) rs1378425325
NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu) rs1571265205
NM_002473.6(MYH9):c.*107A>G rs886057476
NM_002473.6(MYH9):c.*1099A>T rs886057471
NM_002473.6(MYH9):c.*1193A>G rs886057470
NM_002473.6(MYH9):c.*248C>T rs2016505869
NM_002473.6(MYH9):c.*273C>T rs1021214858
NM_002473.6(MYH9):c.*639C>T rs554451749
NM_002473.6(MYH9):c.*975A>G rs886057473
NM_002473.6(MYH9):c.-163C>G rs886057486
NM_002473.6(MYH9):c.-86G>T rs2018382496
NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) rs1464752413
NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) rs56001030
NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) rs2017727253
NM_002473.6(MYH9):c.1273A>T (p.Met425Leu) rs961182177
NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu) rs886057484
NM_002473.6(MYH9):c.1555-15C>T rs2017076105
NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) rs2017075745
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2038-4C>G rs200135917
NM_002473.6(MYH9):c.2161_2165del
NM_002473.6(MYH9):c.2230-11C>A rs374467213
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) rs757850500
NM_002473.6(MYH9):c.2391-7C>T rs886057483
NM_002473.6(MYH9):c.2442G>A (p.Arg814=) rs113783861
NM_002473.6(MYH9):c.2653C>T (p.Leu885=) rs2016868693
NM_002473.6(MYH9):c.2768G>A (p.Arg923Lys)
NM_002473.6(MYH9):c.3136C>G (p.Leu1046Val) rs886057482
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys) rs2146338775
NM_002473.6(MYH9):c.333+14G>A rs768688000
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) rs770864107
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3677G>C (p.Arg1226Pro) rs200697030
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) rs959272684
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) rs778278736
NM_002473.6(MYH9):c.3884A>G (p.Lys1295Arg) rs886057480
NM_002473.6(MYH9):c.4126A>G (p.Ser1376Gly) rs771692651
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) rs2016713858
NM_002473.6(MYH9):c.445C>A (p.His149Asn) rs2017588115
NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr) rs2016643084
NM_002473.6(MYH9):c.4474A>G (p.Lys1492Glu) rs750188842
NM_002473.6(MYH9):c.448A>G (p.Ile150Val) rs2017587954
NM_002473.6(MYH9):c.4564G>A (p.Glu1522Lys)
NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys) rs886057479
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) rs778679056
NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) rs1035118799
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5271G>T (p.Leu1757=) rs886057478
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) rs1455355336
NM_002473.6(MYH9):c.5593-14G>A rs201676960
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_002700.3(POU4F3):c.-44C>A rs764967073
NM_002700.3(POU4F3):c.-79C>A rs563020230
NM_002700.3(POU4F3):c.309C>T (p.Leu103=) rs141235724
NM_002700.3(POU4F3):c.325C>T (p.His109Tyr) rs754773365
NM_002700.3(POU4F3):c.508C>T (p.His170Tyr) rs1190889679
NM_002700.3(POU4F3):c.577C>T (p.Arg193Cys) rs886060063
NM_002700.3(POU4F3):c.602T>C (p.Leu201Pro) rs1760429451
NM_002700.3(POU4F3):c.604G>A (p.Gly202Arg)
NM_002700.3(POU4F3):c.605G>C (p.Gly202Ala) rs1020008447
NM_002700.3(POU4F3):c.675A>T (p.Gln225His)
NM_002700.3(POU4F3):c.696G>C (p.Glu232Asp)
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys) rs1465371108
NM_002700.3(POU4F3):c.770C>T (p.Ala257Val) rs765036368
NM_002700.3(POU4F3):c.960del (p.Trp321fs)
NM_002764.4(PRPS1):c.*137C>T rs1126445
NM_002764.4(PRPS1):c.*389G>A rs5962870
NM_002764.4(PRPS1):c.*389G>C rs5962870
NM_002764.4(PRPS1):c.*508G>C rs1198892283
NM_002764.4(PRPS1):c.*538G>C rs1057515727
NM_002764.4(PRPS1):c.*539G>C rs370453137
NM_002764.4(PRPS1):c.*539G>T rs370453137
NM_002764.4(PRPS1):c.*608C>T rs1925809901
NM_002764.4(PRPS1):c.*938dup rs1057515728
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_002906.3(RDX):c.-240C>G rs1861484920
NM_002906.3(RDX):c.-270G>C rs901152179
NM_002906.3(RDX):c.-297C>T rs886047656
NM_002906.3(RDX):c.-309T>G rs886047658
NM_002906.4(RDX):c.*1234GA[4] rs377537657
NM_002906.4(RDX):c.*1234GA[5] rs377537657
NM_002906.4(RDX):c.*1248GA[4] rs886047641
NM_002906.4(RDX):c.*1258_*1263del rs372282092
NM_002906.4(RDX):c.*1260GT[14] rs61030269
NM_002906.4(RDX):c.*1260GT[17] rs61030269
NM_002906.4(RDX):c.*1260GT[18] rs61030269
NM_002906.4(RDX):c.*1260GT[19] rs61030269
NM_002906.4(RDX):c.*1264G>C rs1864594208
NM_002906.4(RDX):c.*1285_*1289TG[2]TTTGTGT[1] rs878964786
NM_002906.4(RDX):c.*1285_*1290del rs886047639
NM_002906.4(RDX):c.*1285_*1290dup rs886047637
NM_002906.4(RDX):c.*1287_*1288insTTGT rs780363505
NM_002906.4(RDX):c.*1288_*1291del rs886047636
NM_002906.4(RDX):c.*1289_*1290del rs886047638
NM_002906.4(RDX):c.*1289_*1290insGTGTGC rs1555036360
NM_002906.4(RDX):c.*1290_*1291del rs1555036332
NM_002906.4(RDX):c.*1291del rs886047634
NM_002906.4(RDX):c.*1305GA[7] rs149832663
NM_002906.4(RDX):c.*1383G>A rs1864581263
NM_002906.4(RDX):c.*1632A>G rs1864570060
NM_002906.4(RDX):c.*1898A>G rs539282888
NM_002906.4(RDX):c.*2423C>T rs886047632
NM_002906.4(RDX):c.*414A>T rs1864632139
NM_002906.4(RDX):c.*474A>G rs1864629375
NM_002906.4(RDX):c.*722_*724del rs574825897
NM_002906.4(RDX):c.*762C>A rs1319399412
NM_002906.4(RDX):c.*800C>T rs886047644
NM_002906.4(RDX):c.-64-6dup rs61003001
NM_002906.4(RDX):c.-64-7_-64-6del rs61003001
NM_002906.4(RDX):c.1162C>A (p.Arg388=) rs754563690
NM_002906.4(RDX):c.1188T>C (p.Ala396=) rs886047647
NM_002906.4(RDX):c.1195G>A (p.Ala399Thr) rs886047646
NM_002906.4(RDX):c.134T>C (p.Phe45Ser)
NM_002906.4(RDX):c.1411C>G (p.Pro471Ala) rs138560358
NM_002906.4(RDX):c.1495G>C (p.Glu499Gln) rs1864714177
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
NM_002906.4(RDX):c.1504A>G (p.Asn502Asp) rs140180881
NM_002906.4(RDX):c.1547C>T (p.Thr516Ile) rs199573785
NM_002906.4(RDX):c.1577A>G (p.Lys526Arg) rs1864709166
NM_002906.4(RDX):c.301C>T (p.Leu101Phe) rs770252893
NM_002906.4(RDX):c.354G>T (p.Pro118=) rs144543614
NM_002906.4(RDX):c.468-12dup rs368429159
NM_002906.4(RDX):c.573C>A (p.Tyr191Ter) rs139960434
NM_002906.4(RDX):c.836G>T (p.Arg279Leu) rs150863373
NM_002906.4(RDX):c.910C>T (p.Gln304Ter) rs893826250
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*385G>C rs1959052059
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T rs1959054328
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.-16C>T rs759745271
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.-22-2A>G rs201895089
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.-263C>G rs1593353804
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
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.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) rs1959060696
NM_004004.6(GJB2):c.236T>C (p.Leu79Pro) rs1555341957
NM_004004.6(GJB2):c.257C>T (p.Thr86Met) rs1291519904
NM_004004.6(GJB2):c.260C>T (p.Pro87Leu) rs1555341946
NM_004004.6(GJB2):c.263C>G (p.Ala88Gly) rs1555341945
NM_004004.6(GJB2):c.274G>T (p.Ala92Ser)
NM_004004.6(GJB2):c.278T>C (p.Met93Thr) rs1461894310
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro) rs1959063711
NM_004004.6(GJB2):c.301_303del (p.Glu101del) rs1555341937
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu) rs1959059283
NM_004004.6(GJB2):c.349G>T (p.Asp117Tyr) rs2137307822
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.415A>T (p.Ser139Cys) rs1555341907
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.446C>A (p.Ala149Asp) rs2137307574
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.527A>G (p.Asn176Ser) rs1555341840
NM_004004.6(GJB2):c.535G>C (p.Asp179His) rs28931595
NM_004004.6(GJB2):c.569T>A (p.Val190Asp) rs1959056079
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.585G>A (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.677T>A (p.Val226Asp) rs773846324
NM_004086.3(COCH):c.*10T>A rs886050443
NM_004086.3(COCH):c.*377T>C rs1895934392
NM_004086.3(COCH):c.*568A>C rs978000615
NM_004086.3(COCH):c.113G>A (p.Gly38Asp) rs1391189162
NM_004086.3(COCH):c.126G>A (p.Arg42=) rs146115619
NM_004086.3(COCH):c.301T>A (p.Tyr101Asn) rs1895469264
NM_004086.3(COCH):c.329A>G (p.Gln110Arg) rs1281507766
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_004086.3(COCH):c.7G>C (p.Ala3Pro)
NM_004086.3(COCH):c.981C>G (p.Gly327=) rs769184887
NM_004100.5(EYA4):c.*1346C>T rs772550313
NM_004100.5(EYA4):c.*1513T>C rs886061092
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.*2010A>G rs886061093
NM_004100.5(EYA4):c.*2439G>A rs1298238435
NM_004100.5(EYA4):c.*265G>A rs983068379
NM_004100.5(EYA4):c.*2750C>A rs886061097
NM_004100.5(EYA4):c.*3132C>T rs1801031145
NM_004100.5(EYA4):c.*3160C>T rs1801032975
NM_004100.5(EYA4):c.*347T>C rs1434297565
NM_004100.5(EYA4):c.*566G>T rs1800870215
NM_004100.5(EYA4):c.*756A>G rs1800887681
NM_004100.5(EYA4):c.-408G>T rs886061085
NM_004100.5(EYA4):c.-430T>C rs886061084
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg) rs1796360086
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala) rs1793929707
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr) rs1603222490
NM_004208.4(AIFM1):c.994C>G (p.Gln332Glu) rs2124653092
NM_004403.3(GSDME):c.-235C>T rs886062229
NM_004452.4(ESRRB):c.-191T>C rs541720695
NM_004452.4(ESRRB):c.-369G>A rs111446027
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys) rs199660068
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004568.6(SERPINB6):c.203T>C (p.Ile68Thr)
NM_004568.6(SERPINB6):c.251C>T (p.Thr84Met) rs538616923
NM_004700.4(KCNQ4):c.1267A>C (p.Ser423Arg) rs368294870
NM_004700.4(KCNQ4):c.1267A>G (p.Ser423Gly) rs368294870
NM_004700.4(KCNQ4):c.1573G>A (p.Asp525Asn)
NM_004700.4(KCNQ4):c.1859T>A (p.Val620Asp)
NM_004700.4(KCNQ4):c.232A>T (p.Lys78Ter)
NM_004700.4(KCNQ4):c.242GCC[3] (p.Arg82dup) rs769859021
NM_004700.4(KCNQ4):c.28G>A (p.Gly10Ser)
NM_004700.4(KCNQ4):c.331A>G (p.Ser111Gly)
NM_004700.4(KCNQ4):c.436G>A (p.Glu146Lys)
NM_004700.4(KCNQ4):c.485G>A (p.Gly162Glu)
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
NM_004700.4(KCNQ4):c.677T>G (p.Leu226Arg)
NM_004700.4(KCNQ4):c.785A>T (p.Asp262Val) rs80358275
NM_004700.4(KCNQ4):c.799T>G (p.Phe267Val)
NM_004700.4(KCNQ4):c.829G>A (p.Gly277Arg) rs727504459
NM_004839.4(HOMER2):c.1022C>A (p.Thr341Asn)
NM_004999.4(MYO6):c.*1011T>A rs1781098790
NM_004999.4(MYO6):c.*1441TAAAT[1] rs886061769
NM_004999.4(MYO6):c.*148T>C rs886061764
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*2029del rs886061771
NM_004999.4(MYO6):c.*2276A>G rs1464248220
NM_004999.4(MYO6):c.*2497A>G rs886061772
NM_004999.4(MYO6):c.*2838T>G rs1781202815
NM_004999.4(MYO6):c.*2873T>C rs1781205454
NM_004999.4(MYO6):c.*2881_*2882del rs397812617
NM_004999.4(MYO6):c.*2976C>T rs1781211562
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*3297G>C rs888964790
NM_004999.4(MYO6):c.*3473del rs886061777
NM_004999.4(MYO6):c.*3475G>A rs771776668
NM_004999.4(MYO6):c.*3824A>C rs1781270510
NM_004999.4(MYO6):c.*401A>G rs200014336
NM_004999.4(MYO6):c.*4056G>A rs182280217
NM_004999.4(MYO6):c.*429T>C rs1781071721
NM_004999.4(MYO6):c.*650G>C rs191856462
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_004999.4(MYO6):c.-185G>T rs566419666
NM_004999.4(MYO6):c.-19C>A rs746580223
NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu) rs886061761
NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)
NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn) rs1776713738
NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu) rs752585373
NM_004999.4(MYO6):c.2003G>T (p.Cys668Phe)
NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile) rs771235729
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu) rs1777294344
NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu) rs886061762
NM_004999.4(MYO6):c.2339T>C (p.Leu780Ser)
NM_004999.4(MYO6):c.2375G>A (p.Arg792His) rs781458857
NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) rs1778410002
NM_004999.4(MYO6):c.2473_2478delinsGTT (p.Arg825_Met826delinsVal)
NM_004999.4(MYO6):c.2787T>G (p.Ile929Met) rs886061763
NM_004999.4(MYO6):c.2819G>A (p.Arg940His)
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3331G>A (p.Val1111Met)
NM_004999.4(MYO6):c.3439+13G>T rs1362707127
NM_004999.4(MYO6):c.3712C>T (p.Arg1238Trp)
NM_004999.4(MYO6):c.439A>G (p.Ile147Val)
NM_004999.4(MYO6):c.548T>A (p.Val183Asp) rs1060499650
NM_004999.4(MYO6):c.605A>G (p.Asn202Ser) rs886061760
NM_004999.4(MYO6):c.798T>G (p.Ser266Arg) rs1398124041
NM_004999.4(MYO6):c.917T>C (p.Met306Thr) rs2150278897
NM_005012.4(ROR1):c.1639C>T (p.Pro547Ser) rs137874089
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp) rs760355948
NM_005219.5(DIAPH1):c.*1006T>C rs886060029
NM_005219.5(DIAPH1):c.*1309A>T rs1050712305
NM_005219.5(DIAPH1):c.*1337C>T rs886060028
NM_005219.5(DIAPH1):c.*1444T>G rs886060026
NM_005219.5(DIAPH1):c.*1544A>G rs886060025
NM_005219.5(DIAPH1):c.*332T>G rs927185230
NM_005219.5(DIAPH1):c.*367C>G rs148686869
NM_005219.5(DIAPH1):c.*521G>A rs2099885681
NM_005219.5(DIAPH1):c.*644C>T rs527315700
NM_005219.5(DIAPH1):c.-82G>A rs886060035
NM_005219.5(DIAPH1):c.1000A>C (p.Ile334Leu)
NM_005219.5(DIAPH1):c.1002C>G (p.Ile334Met) rs748386464
NM_005219.5(DIAPH1):c.1004G>T (p.Arg335Ile) rs2099896282
NM_005219.5(DIAPH1):c.100G>A (p.Gly34Ser)
NM_005219.5(DIAPH1):c.1018C>G (p.Arg340Gly)
NM_005219.5(DIAPH1):c.1018C>T (p.Arg340Cys) rs754730261
NM_005219.5(DIAPH1):c.1034A>G (p.Gln345Arg)
NM_005219.5(DIAPH1):c.1044+15T>C rs2099896276
NM_005219.5(DIAPH1):c.1044+6A>G
NM_005219.5(DIAPH1):c.104A>G (p.Lys35Arg)
NM_005219.5(DIAPH1):c.1052G>A (p.Arg351Gln)
NM_005219.5(DIAPH1):c.1055A>G (p.Glu352Gly) rs779820289
NM_005219.5(DIAPH1):c.1069G>C (p.Asp357His)
NM_005219.5(DIAPH1):c.1076G>T (p.Arg359Ile)
NM_005219.5(DIAPH1):c.1096G>C (p.Asp366His)
NM_005219.5(DIAPH1):c.1118C>T (p.Ser373Phe)
NM_005219.5(DIAPH1):c.1123G>T (p.Asp375Tyr)
NM_005219.5(DIAPH1):c.1130A>G (p.Lys377Arg)
NM_005219.5(DIAPH1):c.114A>G (p.Lys38=) rs2154597561
NM_005219.5(DIAPH1):c.1150C>T (p.Arg384Cys)
NM_005219.5(DIAPH1):c.1151G>A (p.Arg384His) rs200927557
NM_005219.5(DIAPH1):c.1151G>T (p.Arg384Leu) rs200927557
NM_005219.5(DIAPH1):c.1154T>C (p.Met385Thr)
NM_005219.5(DIAPH1):c.1164-3C>A rs2154596419
NM_005219.5(DIAPH1):c.1164-9C>G
NM_005219.5(DIAPH1):c.1164T>C (p.Asp388=)
NM_005219.5(DIAPH1):c.116T>C (p.Phe39Ser) rs2154597560
NM_005219.5(DIAPH1):c.117T>C (p.Phe39=)
NM_005219.5(DIAPH1):c.119C>T (p.Thr40Ile) rs1437971317
NM_005219.5(DIAPH1):c.1205A>G (p.Lys402Arg)
NM_005219.5(DIAPH1):c.1211C>T (p.Ser404Leu)
NM_005219.5(DIAPH1):c.1220A>G (p.Glu407Gly)
NM_005219.5(DIAPH1):c.1230C>A (p.Phe410Leu)
NM_005219.5(DIAPH1):c.1230C>T (p.Phe410=)
NM_005219.5(DIAPH1):c.1253T>A (p.Leu418His)
NM_005219.5(DIAPH1):c.1258G>A (p.Val420Ile) rs2099896137
NM_005219.5(DIAPH1):c.1262G>T (p.Arg421Leu)
NM_005219.5(DIAPH1):c.1265A>T (p.Asn422Ile)
NM_005219.5(DIAPH1):c.1268A>C (p.Asp423Ala)
NM_005219.5(DIAPH1):c.1280+3A>G rs747583916
NM_005219.5(DIAPH1):c.1283C>A (p.Pro428His)
NM_005219.5(DIAPH1):c.1292A>G (p.Tyr431Cys)
NM_005219.5(DIAPH1):c.1310G>A (p.Cys437Tyr) rs2099896035
NM_005219.5(DIAPH1):c.1319A>G (p.Gln440Arg)
NM_005219.5(DIAPH1):c.1348C>A (p.Pro450Thr) rs1263533400
NM_005219.5(DIAPH1):c.1348C>G (p.Pro450Ala)
NM_005219.5(DIAPH1):c.1358A>G (p.Lys453Arg) rs368435886
NM_005219.5(DIAPH1):c.1359G>A (p.Lys453=) rs764490603
NM_005219.5(DIAPH1):c.1369C>T (p.Leu457Phe)
NM_005219.5(DIAPH1):c.1376T>C (p.Ile459Thr)
NM_005219.5(DIAPH1):c.1381A>G (p.Ile461Val)
NM_005219.5(DIAPH1):c.1382T>C (p.Ile461Thr)
NM_005219.5(DIAPH1):c.1397-3C>T rs2154596393
NM_005219.5(DIAPH1):c.139G>C (p.Asp47His) rs2154596729
NM_005219.5(DIAPH1):c.13G>A (p.Gly5Ser) rs2154597569
NM_005219.5(DIAPH1):c.1406T>C (p.Ile469Thr) rs2154596392
NM_005219.5(DIAPH1):c.1409A>G (p.Asp470Gly) rs1596381822
NM_005219.5(DIAPH1):c.140A>T (p.Asp47Val)
NM_005219.5(DIAPH1):c.1417A>G (p.Lys473Glu)
NM_005219.5(DIAPH1):c.1420G>A (p.Val474Met)
NM_005219.5(DIAPH1):c.1420_1421delinsAG (p.Val474Arg) rs2154596391
NM_005219.5(DIAPH1):c.1439A>C (p.Lys480Thr)
NM_005219.5(DIAPH1):c.1439A>G (p.Lys480Arg) rs547070097
NM_005219.5(DIAPH1):c.144+5G>C
NM_005219.5(DIAPH1):c.1461+6T>C
NM_005219.5(DIAPH1):c.1468T>C (p.Ser490Pro) rs2154596348
NM_005219.5(DIAPH1):c.1476A>T (p.Leu492Phe)
NM_005219.5(DIAPH1):c.147G>A (p.Leu49=)
NM_005219.5(DIAPH1):c.1480G>T (p.Ala494Ser) rs2099895764
NM_005219.5(DIAPH1):c.1496A>G (p.Gln499Arg)
NM_005219.5(DIAPH1):c.1498G>A (p.Val500Met) rs1393807954
NM_005219.5(DIAPH1):c.1501G>A (p.Glu501Lys)
NM_005219.5(DIAPH1):c.1513A>T (p.Met505Leu)
NM_005219.5(DIAPH1):c.1517A>T (p.Glu506Val)
NM_005219.5(DIAPH1):c.1524C>G (p.Asp508Glu)
NM_005219.5(DIAPH1):c.152G>C (p.Arg51Thr) rs2099897675
NM_005219.5(DIAPH1):c.1531C>A (p.Gln511Lys) rs2099895757
NM_005219.5(DIAPH1):c.1535A>G (p.Lys512Arg)
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu) rs2099897674
NM_005219.5(DIAPH1):c.1553G>C (p.Gly518Ala)
NM_005219.5(DIAPH1):c.1570C>T (p.His524Tyr) rs1453865659
NM_005219.5(DIAPH1):c.158C>T (p.Thr53Ile)
NM_005219.5(DIAPH1):c.1595C>T (p.Thr532Ile) rs1446595487
NM_005219.5(DIAPH1):c.1606G>A (p.Asp536Asn) rs377104351
NM_005219.5(DIAPH1):c.1606G>T (p.Asp536Tyr) rs377104351
NM_005219.5(DIAPH1):c.1613A>C (p.Glu538Ala) rs2154596341
NM_005219.5(DIAPH1):c.1630C>T (p.Leu544Phe)
NM_005219.5(DIAPH1):c.1634C>T (p.Thr545Ile)
NM_005219.5(DIAPH1):c.1636G>A (p.Gly546Arg)
NM_005219.5(DIAPH1):c.1637G>A (p.Gly546Glu)
NM_005219.5(DIAPH1):c.1639G>A (p.Glu547Lys)
NM_005219.5(DIAPH1):c.1639G>C (p.Glu547Gln) rs1317819365
NM_005219.5(DIAPH1):c.1641G>A (p.Glu547=) rs2099895745
NM_005219.5(DIAPH1):c.1642G>A (p.Val548Ile)
NM_005219.5(DIAPH1):c.1666G>C (p.Glu556Gln) rs2099895618
NM_005219.5(DIAPH1):c.1676A>G (p.Lys559Arg)
NM_005219.5(DIAPH1):c.1677G>T (p.Lys559Asn)
NM_005219.5(DIAPH1):c.1681G>A (p.Glu561Lys) rs2154596316
NM_005219.5(DIAPH1):c.169A>G (p.Ile57Val) rs2099897673
NM_005219.5(DIAPH1):c.16G>A (p.Gly6Arg)
NM_005219.5(DIAPH1):c.1708A>G (p.Ile570Val) rs886042233
NM_005219.5(DIAPH1):c.1712C>G (p.Thr571Ser) rs1562321607
NM_005219.5(DIAPH1):c.1717C>A (p.Pro573Thr)
NM_005219.5(DIAPH1):c.1726G>A (p.Val576Ile)
NM_005219.5(DIAPH1):c.1727T>C (p.Val576Ala)
NM_005219.5(DIAPH1):c.172AAG[1] (p.Lys59del)
NM_005219.5(DIAPH1):c.1734T>G (p.Ser578Arg)
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
NM_005219.5(DIAPH1):c.1742C>G (p.Pro581Arg)
NM_005219.5(DIAPH1):c.1756C>T (p.Pro586Ser)
NM_005219.5(DIAPH1):c.1757C>T (p.Pro586Leu) rs2099895599
NM_005219.5(DIAPH1):c.1762T>A (p.Leu588Ile)
NM_005219.5(DIAPH1):c.1766C>T (p.Pro589Leu) rs953769579
NM_005219.5(DIAPH1):c.1768G>A (p.Gly590Ser)
NM_005219.5(DIAPH1):c.1769G>A (p.Gly590Asp) rs189809247
NM_005219.5(DIAPH1):c.1769G>C (p.Gly590Ala)
NM_005219.5(DIAPH1):c.1779C>T (p.Gly593=)
NM_005219.5(DIAPH1):c.1781C>A (p.Thr594Asn)
NM_005219.5(DIAPH1):c.1781C>T (p.Thr594Ile) rs1562321356
NM_005219.5(DIAPH1):c.1784T>G (p.Ile595Ser)
NM_005219.5(DIAPH1):c.1787T>C (p.Ile596Thr)
NM_005219.5(DIAPH1):c.1791ACC[1] (p.Pro599_Pro600del) rs1285003139
NM_005219.5(DIAPH1):c.1795C>A (p.Pro599Thr)
NM_005219.5(DIAPH1):c.1802C>G (p.Ala601Gly)
NM_005219.5(DIAPH1):c.1805C>T (p.Pro602Leu)
NM_005219.5(DIAPH1):c.1808G>C (p.Gly603Ala) rs779887319
NM_005219.5(DIAPH1):c.1820C>A (p.Thr607Asn)
NM_005219.5(DIAPH1):c.1820C>T (p.Thr607Ile) rs2099895593
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[15] (p.Pro617_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[17] (p.Pro615_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[18] (p.Pro614_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[4] (p.Pro614_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[6] (p.Pro616_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[8] (p.Pro618_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1822C>G (p.Pro608Ala) rs749881969
NM_005219.5(DIAPH1):c.1826C>T (p.Pro609Leu)
NM_005219.5(DIAPH1):c.1835C>T (p.Pro612Leu) rs1421185830
NM_005219.5(DIAPH1):c.1836_1837insTCTCCT (p.Pro612_Pro613insSerPro)
NM_005219.5(DIAPH1):c.1838C>G (p.Pro613Arg)
NM_005219.5(DIAPH1):c.1838C>T (p.Pro613Leu)
NM_005219.5(DIAPH1):c.1840_1860dup (p.Pro620_Leu621insProProProProProProPro)
NM_005219.5(DIAPH1):c.1841C>T (p.Pro614Leu)
NM_005219.5(DIAPH1):c.1843C>T (p.Pro615Ser)
NM_005219.5(DIAPH1):c.1846C>T (p.Pro616Ser)
NM_005219.5(DIAPH1):c.1848_1862del (p.Pro618_Pro622del) rs1562320961
NM_005219.5(DIAPH1):c.1849C>T (p.Pro617Ser)
NM_005219.5(DIAPH1):c.1852C>A (p.Pro618Thr)
NM_005219.5(DIAPH1):c.1852C>T (p.Pro618Ser)
NM_005219.5(DIAPH1):c.1852_1860dup (p.Pro618_Pro620dup) rs1562320985
NM_005219.5(DIAPH1):c.1854_1856dup (p.Pro620dup) rs2099895584
NM_005219.5(DIAPH1):c.1854_1859dup (p.Pro619_Pro620dup) rs773918503
NM_005219.5(DIAPH1):c.1856C>T (p.Pro619Leu) rs2154596301
NM_005219.5(DIAPH1):c.1859C>A (p.Pro620His) rs774876990
NM_005219.5(DIAPH1):c.1859C>T (p.Pro620Leu) rs774876990
NM_005219.5(DIAPH1):c.1859_1860insCCCTCC (p.Pro620_Leu621insProPro)
NM_005219.5(DIAPH1):c.1861T>G (p.Leu621Val)
NM_005219.5(DIAPH1):c.1871G>A (p.Gly624Asp)
NM_005219.5(DIAPH1):c.1879A>G (p.Ile627Val)
NM_005219.5(DIAPH1):c.1891C>A (p.Pro631Thr)
NM_005219.5(DIAPH1):c.1891C>T (p.Pro631Ser)
NM_005219.5(DIAPH1):c.1892CTT[1] (p.Ser632del) rs1361907715
NM_005219.5(DIAPH1):c.1894T>C (p.Ser632Pro)
NM_005219.5(DIAPH1):c.1901C>G (p.Pro634Arg)
NM_005219.5(DIAPH1):c.1908T>C (p.Gly636=)
NM_005219.5(DIAPH1):c.1910C>A (p.Thr637Asn)
NM_005219.5(DIAPH1):c.1915A>G (p.Ile639Val) rs781398463
NM_005219.5(DIAPH1):c.1919C>G (p.Ser640Cys)
NM_005219.5(DIAPH1):c.1925C>T (p.Pro642Leu) rs2099895573
NM_005219.5(DIAPH1):c.1927C>A (p.Pro643Thr) rs768458531
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005219.5(DIAPH1):c.1927C>T (p.Pro643Ser) rs768458531
NM_005219.5(DIAPH1):c.1928C>A (p.Pro643His)
NM_005219.5(DIAPH1):c.1936_1971del (p.Ser646_Leu657del)
NM_005219.5(DIAPH1):c.193A>G (p.Asn65Asp)
NM_005219.5(DIAPH1):c.1943A>G (p.Asp648Gly) rs886060032
NM_005219.5(DIAPH1):c.1952T>A (p.Ile651Asn)
NM_005219.5(DIAPH1):c.1955C>T (p.Pro652Leu)
NM_005219.5(DIAPH1):c.1960C>T (p.Pro654Ser) rs931286798
NM_005219.5(DIAPH1):c.1963C>G (p.Pro655Ala) rs201827139
NM_005219.5(DIAPH1):c.1964C>A (p.Pro655His) rs367669306
NM_005219.5(DIAPH1):c.1967C>T (p.Pro656Leu)
NM_005219.5(DIAPH1):c.1978G>A (p.Gly660Ser)
NM_005219.5(DIAPH1):c.1978G>T (p.Gly660Cys)
NM_005219.5(DIAPH1):c.197C>G (p.Ser66Cys) rs1414699859
NM_005219.5(DIAPH1):c.1991C>G (p.Pro664Arg) rs2099895558
NM_005219.5(DIAPH1):c.2000CTT[1] (p.Ser668del) rs1323222030
NM_005219.5(DIAPH1):c.2003C>T (p.Ser668Phe)
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005219.5(DIAPH1):c.2013_2048dup (p.Gly672_Gly683dup) rs2154596291
NM_005219.5(DIAPH1):c.2015G>A (p.Gly672Asp)
NM_005219.5(DIAPH1):c.2017A>G (p.Thr673Ala)
NM_005219.5(DIAPH1):c.2018C>T (p.Thr673Ile) rs13174988
NM_005219.5(DIAPH1):c.2023A>G (p.Ile675Val) rs1596378879
NM_005219.5(DIAPH1):c.2024T>C (p.Ile675Thr) rs2154596293
NM_005219.5(DIAPH1):c.2025C>G (p.Ile675Met) rs557522528
NM_005219.5(DIAPH1):c.2026C>T (p.Pro676Ser) rs1160456432
NM_005219.5(DIAPH1):c.2028_2030del (p.Pro680del)
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln) rs761912885
NM_005219.5(DIAPH1):c.2030C>G (p.Pro677Arg)
NM_005219.5(DIAPH1):c.2030C>T (p.Pro677Leu) rs761912885
NM_005219.5(DIAPH1):c.2034_2072del (p.Arg686_Ala698del)
NM_005219.5(DIAPH1):c.2036C>G (p.Pro679Arg)
NM_005219.5(DIAPH1):c.2041T>G (p.Leu681Val)
NM_005219.5(DIAPH1):c.2050A>T (p.Ser684Cys) rs2154596289
NM_005219.5(DIAPH1):c.2056A>G (p.Arg686Gly)
NM_005219.5(DIAPH1):c.2056_2094del (p.Arg686_Ala698del) rs768124450
NM_005219.5(DIAPH1):c.2057G>T (p.Arg686Ile)
NM_005219.5(DIAPH1):c.2061C>G (p.Ile687Met) rs1436744741
NM_005219.5(DIAPH1):c.2066C>G (p.Pro689Arg) rs1233431834
NM_005219.5(DIAPH1):c.2067_2105del (p.Ser697_Gly709del) rs746438941
NM_005219.5(DIAPH1):c.2068C>T (p.Pro690Ser)
NM_005219.5(DIAPH1):c.206G>C (p.Arg69Thr) rs1356506474
NM_005219.5(DIAPH1):c.2071C>T (p.Pro691Ser) rs1334098898
NM_005219.5(DIAPH1):c.2075C>G (p.Pro692Arg)
NM_005219.5(DIAPH1):c.2091T>A (p.Ser697Arg)
NM_005219.5(DIAPH1):c.2092G>A (p.Ala698Thr)
NM_005219.5(DIAPH1):c.2099T>A (p.Ile700Asn) rs199830182
NM_005219.5(DIAPH1):c.2099T>C (p.Ile700Thr) rs199830182
NM_005219.5(DIAPH1):c.2101C>A (p.Pro701Thr) rs576129553
NM_005219.5(DIAPH1):c.2101C>T (p.Pro701Ser) rs576129553
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005219.5(DIAPH1):c.2108C>A (p.Pro703Gln)
NM_005219.5(DIAPH1):c.2108C>G (p.Pro703Arg) rs762356974
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) rs762356974
NM_005219.5(DIAPH1):c.211T>C (p.Ser71Pro)
NM_005219.5(DIAPH1):c.2132C>T (p.Ala711Val)
NM_005219.5(DIAPH1):c.2144C>G (p.Pro715Arg)
NM_005219.5(DIAPH1):c.2145TCC[2] (p.Pro719del)
NM_005219.5(DIAPH1):c.2147C>T (p.Pro716Leu)
NM_005219.5(DIAPH1):c.2149C>T (p.Pro717Ser) rs2099895535
NM_005219.5(DIAPH1):c.2156C>G (p.Pro719Arg) rs770966255
NM_005219.5(DIAPH1):c.2162C>A (p.Pro721His) rs373520931
NM_005219.5(DIAPH1):c.2162C>G (p.Pro721Arg)
NM_005219.5(DIAPH1):c.2167G>A (p.Gly723Ser) rs1219615963
NM_005219.5(DIAPH1):c.2182C>T (p.Pro728Ser)
NM_005219.5(DIAPH1):c.2183C>T (p.Pro728Leu) rs2154596280
NM_005219.5(DIAPH1):c.2186C>T (p.Pro729Leu)
NM_005219.5(DIAPH1):c.2189C>T (p.Pro730Leu) rs2154596279
NM_005219.5(DIAPH1):c.218C>T (p.Ala73Val) rs2154596692
NM_005219.5(DIAPH1):c.2197C>T (p.Pro733Ser)
NM_005219.5(DIAPH1):c.21C>G (p.Ser7Arg)
NM_005219.5(DIAPH1):c.2216C>T (p.Pro739Leu)
NM_005219.5(DIAPH1):c.221C>T (p.Ser74Leu)
NM_005219.5(DIAPH1):c.2221C>T (p.Pro741Ser)
NM_005219.5(DIAPH1):c.2222C>T (p.Pro741Leu)
NM_005219.5(DIAPH1):c.2233A>G (p.Met745Val)
NM_005219.5(DIAPH1):c.2236G>T (p.Gly746Cys) rs1258812442
NM_005219.5(DIAPH1):c.2237G>A (p.Gly746Asp) rs1267697203
NM_005219.5(DIAPH1):c.2239A>G (p.Met747Val) rs750444590
NM_005219.5(DIAPH1):c.2242C>A (p.Pro748Thr) rs760810515
NM_005219.5(DIAPH1):c.2243C>T (p.Pro748Leu)
NM_005219.5(DIAPH1):c.2255C>A (p.Pro752Gln)
NM_005219.5(DIAPH1):c.2263T>C (p.Phe755Leu)
NM_005219.5(DIAPH1):c.2267G>C (p.Gly756Ala) rs1423322662
NM_005219.5(DIAPH1):c.2282C>T (p.Pro761Leu) rs1382690018
NM_005219.5(DIAPH1):c.2287C>G (p.Leu763Val)
NM_005219.5(DIAPH1):c.2303C>T (p.Thr768Ile)
NM_005219.5(DIAPH1):c.2306C>G (p.Pro769Arg)
NM_005219.5(DIAPH1):c.2307del (p.Lys771fs) rs1562319896
NM_005219.5(DIAPH1):c.2309A>G (p.Lys770Arg) rs2154596262
NM_005219.5(DIAPH1):c.2312A>C (p.Lys771Thr)
NM_005219.5(DIAPH1):c.2329G>T (p.Val777Leu)
NM_005219.5(DIAPH1):c.2330T>C (p.Val777Ala) rs2154596261
NM_005219.5(DIAPH1):c.2333A>C (p.Gln778Pro)
NM_005219.5(DIAPH1):c.2333A>G (p.Gln778Arg) rs369255077
NM_005219.5(DIAPH1):c.2337C>T (p.Leu779=) rs757635140
NM_005219.5(DIAPH1):c.233A>G (p.Asp78Gly)
NM_005219.5(DIAPH1):c.2347A>G (p.Asn783Asp) rs778373397
NM_005219.5(DIAPH1):c.2365G>A (p.Ala789Thr) rs1596376794
NM_005219.5(DIAPH1):c.2365G>T (p.Ala789Ser) rs1596376794
NM_005219.5(DIAPH1):c.2369A>T (p.Glu790Val) rs375471795
NM_005219.5(DIAPH1):c.2370G>T (p.Glu790Asp) rs2099895259
NM_005219.5(DIAPH1):c.2374C>A (p.Leu792Ile)
NM_005219.5(DIAPH1):c.2401G>C (p.Val801Leu) rs1371798081
NM_005219.5(DIAPH1):c.2410G>A (p.Asp804Asn) rs2099895253
NM_005219.5(DIAPH1):c.2426A>G (p.Asn809Ser)
NM_005219.5(DIAPH1):c.242C>A (p.Ala81Glu)
NM_005219.5(DIAPH1):c.2447C>A (p.Thr816Asn)
NM_005219.5(DIAPH1):c.2456T>C (p.Phe819Ser)
NM_005219.5(DIAPH1):c.2459C>T (p.Ser820Phe)
NM_005219.5(DIAPH1):c.2461G>A (p.Ala821Thr)
NM_005219.5(DIAPH1):c.2461G>T (p.Ala821Ser)
NM_005219.5(DIAPH1):c.2470A>G (p.Lys824Glu) rs2154596200
NM_005219.5(DIAPH1):c.2473+3G>A
NM_005219.5(DIAPH1):c.2473+3G>C
NM_005219.5(DIAPH1):c.2480A>C (p.Lys827Thr) rs2154596192
NM_005219.5(DIAPH1):c.2482+4A>G
NM_005219.5(DIAPH1):c.2488A>G (p.Lys830Glu)
NM_005219.5(DIAPH1):c.2492A>G (p.Asp831Gly)
NM_005219.5(DIAPH1):c.2493T>G (p.Asp831Glu)
NM_005219.5(DIAPH1):c.2495A>G (p.Gln832Arg)
NM_005219.5(DIAPH1):c.2507A>G (p.Glu836Gly)
NM_005219.5(DIAPH1):c.2514G>T (p.Lys838Asn) rs761209182
NM_005219.5(DIAPH1):c.253C>A (p.Gln85Lys) rs2154596689
NM_005219.5(DIAPH1):c.253C>G (p.Gln85Glu)
NM_005219.5(DIAPH1):c.2543A>G (p.Glu848Gly)
NM_005219.5(DIAPH1):c.2552T>C (p.Val851Ala)
NM_005219.5(DIAPH1):c.2560T>G (p.Ser854Ala)
NM_005219.5(DIAPH1):c.256G>C (p.Asp86His)
NM_005219.5(DIAPH1):c.2577T>G (p.Asn859Lys) rs2099888705
NM_005219.5(DIAPH1):c.2584A>G (p.Ile862Val)
NM_005219.5(DIAPH1):c.2585T>C (p.Ile862Thr)
NM_005219.5(DIAPH1):c.2597C>A (p.Ser866Tyr)
NM_005219.5(DIAPH1):c.2597C>T (p.Ser866Phe) rs150113164
NM_005219.5(DIAPH1):c.2600T>A (p.Phe867Tyr)
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005219.5(DIAPH1):c.2605A>C (p.Met869Leu)
NM_005219.5(DIAPH1):c.2605A>G (p.Met869Val)
NM_005219.5(DIAPH1):c.2606T>C (p.Met869Thr)
NM_005219.5(DIAPH1):c.2608C>A (p.Pro870Thr)
NM_005219.5(DIAPH1):c.2609C>T (p.Pro870Leu)
NM_005219.5(DIAPH1):c.2612A>T (p.Tyr871Phe)
NM_005219.5(DIAPH1):c.2627A>C (p.Asn876Thr) rs1596340326
NM_005219.5(DIAPH1):c.2645A>T (p.Asn882Ile) rs750058263
NM_005219.5(DIAPH1):c.2650G>A (p.Ala884Thr) rs1214856083
NM_005219.5(DIAPH1):c.2666C>T (p.Ser889Phe)
NM_005219.5(DIAPH1):c.2680C>T (p.Leu894Phe)
NM_005219.5(DIAPH1):c.2694G>A (p.Met898Ile) rs562824586
NM_005219.5(DIAPH1):c.2698G>C (p.Glu900Gln)
NM_005219.5(DIAPH1):c.2701C>G (p.Pro901Ala)
NM_005219.5(DIAPH1):c.2705A>G (p.Glu902Gly)
NM_005219.5(DIAPH1):c.2733G>T (p.Lys911Asn) rs767712795
NM_005219.5(DIAPH1):c.2746G>A (p.Asp916Asn)
NM_005219.5(DIAPH1):c.2758T>G (p.Ser920Ala)
NM_005219.5(DIAPH1):c.2771G>T (p.Gly924Val)
NM_005219.5(DIAPH1):c.2778+2dup
NM_005219.5(DIAPH1):c.2779A>G (p.Met927Val) rs1277130012
NM_005219.5(DIAPH1):c.2780T>C (p.Met927Thr)
NM_005219.5(DIAPH1):c.2795G>A (p.Arg932Gln) rs370578225
NM_005219.5(DIAPH1):c.2807G>A (p.Arg936His)
NM_005219.5(DIAPH1):c.2809C>T (p.Leu937Phe)
NM_005219.5(DIAPH1):c.2813A>T (p.Asn938Ile)
NM_005219.5(DIAPH1):c.2818A>G (p.Ile940Val) rs2099887788
NM_005219.5(DIAPH1):c.2842G>A (p.Glu948Lys)
NM_005219.5(DIAPH1):c.2846A>T (p.Gln949Leu)
NM_005219.5(DIAPH1):c.2861A>G (p.Lys954Arg) rs2154595007
NM_005219.5(DIAPH1):c.2878G>A (p.Val960Ile) rs2099887778
NM_005219.5(DIAPH1):c.2893_2894inv (p.Glu965Ser)
NM_005219.5(DIAPH1):c.2915G>A (p.Ser972Asn)
NM_005219.5(DIAPH1):c.2921C>G (p.Ser974Cys) rs2154595004
NM_005219.5(DIAPH1):c.2926C>T (p.Leu976Phe) rs2154595003
NM_005219.5(DIAPH1):c.2939C>T (p.Thr980Ile)
NM_005219.5(DIAPH1):c.2944C>G (p.Leu982Val)
NM_005219.5(DIAPH1):c.2965G>A (p.Ala989Thr)
NM_005219.5(DIAPH1):c.2974A>G (p.Arg992Gly) rs2154595000
NM_005219.5(DIAPH1):c.2978A>G (p.Asn993Ser)
NM_005219.5(DIAPH1):c.2984G>C (p.Gly995Ala)
NM_005219.5(DIAPH1):c.29C>G (p.Pro10Arg) rs750068600
NM_005219.5(DIAPH1):c.3001A>G (p.Ile1001Val)
NM_005219.5(DIAPH1):c.3003C>G (p.Ile1001Met) rs1554201371
NM_005219.5(DIAPH1):c.300G>C (p.Leu100=) rs547319575
NM_005219.5(DIAPH1):c.3017A>G (p.Lys1006Arg)
NM_005219.5(DIAPH1):c.3018+3G>A rs2154594998
NM_005219.5(DIAPH1):c.3018+6C>T rs2154594997
NM_005219.5(DIAPH1):c.3032A>C (p.Lys1011Thr)
NM_005219.5(DIAPH1):c.3037A>G (p.Thr1013Ala)
NM_005219.5(DIAPH1):c.3078G>C (p.Leu1026Phe)
NM_005219.5(DIAPH1):c.307A>G (p.Met103Val) rs2099897198
NM_005219.5(DIAPH1):c.308T>C (p.Met103Thr) rs2154596616
NM_005219.5(DIAPH1):c.3094C>A (p.Pro1032Thr)
NM_005219.5(DIAPH1):c.3099T>A (p.Asp1033Glu)
NM_005219.5(DIAPH1):c.3107A>C (p.Lys1036Thr)
NM_005219.5(DIAPH1):c.3111T>G (p.Phe1037Leu) rs376328260
NM_005219.5(DIAPH1):c.3112C>G (p.Pro1038Ala)
NM_005219.5(DIAPH1):c.3118G>A (p.Glu1040Lys)
NM_005219.5(DIAPH1):c.3127C>T (p.His1043Tyr)
NM_005219.5(DIAPH1):c.3130G>C (p.Val1044Leu) rs2099887715
NM_005219.5(DIAPH1):c.3140C>T (p.Ala1047Val)
NM_005219.5(DIAPH1):c.3146G>A (p.Arg1049Gln)
NM_005219.5(DIAPH1):c.3148+6G>A
NM_005219.5(DIAPH1):c.3149-13_3149-3del
NM_005219.5(DIAPH1):c.3149-3T>A
NM_005219.5(DIAPH1):c.3157G>A (p.Glu1053Lys) rs1003389476
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter) rs1003389476
NM_005219.5(DIAPH1):c.3162C>A (p.Asn1054Lys) rs1409823509
NM_005219.5(DIAPH1):c.3167A>C (p.Gln1056Pro) rs2154594980
NM_005219.5(DIAPH1):c.3172A>T (p.Asn1058Tyr) rs2154594979
NM_005219.5(DIAPH1):c.3179A>G (p.Asp1060Gly) rs1162981056
NM_005219.5(DIAPH1):c.317A>G (p.Asn106Ser)
NM_005219.5(DIAPH1):c.3182A>C (p.Gln1061Pro)
NM_005219.5(DIAPH1):c.3182A>G (p.Gln1061Arg)
NM_005219.5(DIAPH1):c.3183G>C (p.Gln1061His)
NM_005219.5(DIAPH1):c.3203A>T (p.Asp1068Val)
NM_005219.5(DIAPH1):c.3206_3207insTTC (p.Val1069_Glu1070insSer) rs1450758628
NM_005219.5(DIAPH1):c.3211C>T (p.Arg1071Cys)
NM_005219.5(DIAPH1):c.3217G>A (p.Val1073Ile)
NM_005219.5(DIAPH1):c.3217_3219dup (p.Val1073dup) rs2099887571
NM_005219.5(DIAPH1):c.3220C>G (p.Gln1074Glu) rs1012562287
NM_005219.5(DIAPH1):c.3223A>C (p.Asn1075His)
NM_005219.5(DIAPH1):c.3233C>T (p.Ala1078Val)
NM_005219.5(DIAPH1):c.3247A>G (p.Lys1083Glu)
NM_005219.5(DIAPH1):c.3252C>G (p.Asp1084Glu)
NM_005219.5(DIAPH1):c.3254A>G (p.Lys1085Arg)
NM_005219.5(DIAPH1):c.3273+19A>T
NM_005219.5(DIAPH1):c.3273+5C>T
NM_005219.5(DIAPH1):c.3273+8C>T
NM_005219.5(DIAPH1):c.3292C>A (p.Gln1098Lys) rs2099887333
NM_005219.5(DIAPH1):c.3293A>T (p.Gln1098Leu) rs997606547
NM_005219.5(DIAPH1):c.3304A>G (p.Asn1102Asp)
NM_005219.5(DIAPH1):c.3306C>G (p.Asn1102Lys)
NM_005219.5(DIAPH1):c.3308A>G (p.Lys1103Arg)
NM_005219.5(DIAPH1):c.3318G>A (p.Met1106Ile) rs1596337513
NM_005219.5(DIAPH1):c.3321G>C (p.Met1107Ile)
NM_005219.5(DIAPH1):c.3331A>T (p.Met1111Leu) rs371161306
NM_005219.5(DIAPH1):c.3332T>C (p.Met1111Thr) rs893998939
NM_005219.5(DIAPH1):c.3336G>C (p.Glu1112Asp) rs2154594956
NM_005219.5(DIAPH1):c.3339C>T (p.Thr1113=)
NM_005219.5(DIAPH1):c.3374A>T (p.Asp1125Val) rs1490710264
NM_005219.5(DIAPH1):c.3406A>T (p.Met1136Leu) rs1554200929
NM_005219.5(DIAPH1):c.3409G>T (p.Asp1137Tyr)
NM_005219.5(DIAPH1):c.3414_3415delinsAA (p.His1139Asn)
NM_005219.5(DIAPH1):c.3424C>T (p.Arg1142Trp) rs1353583066
NM_005219.5(DIAPH1):c.3430A>G (p.Met1144Val) rs2154594954
NM_005219.5(DIAPH1):c.3439C>G (p.Gln1147Glu)
NM_005219.5(DIAPH1):c.343G>C (p.Glu115Gln)
NM_005219.5(DIAPH1):c.3463C>G (p.Arg1155Gly) rs369467830
NM_005219.5(DIAPH1):c.3464G>A (p.Arg1155Gln)
NM_005219.5(DIAPH1):c.3466C>T (p.Arg1156Trp)
NM_005219.5(DIAPH1):c.3467G>C (p.Arg1156Pro) rs764296073
NM_005219.5(DIAPH1):c.3478G>C (p.Glu1160Gln)
NM_005219.5(DIAPH1):c.3486G>A (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3486G>C (p.Met1162Ile) rs747116749
NM_005219.5(DIAPH1):c.3491G>A (p.Arg1164Gln)
NM_005219.5(DIAPH1):c.3507G>C (p.Lys1169Asn)
NM_005219.5(DIAPH1):c.350A>C (p.Asp117Ala)
NM_005219.5(DIAPH1):c.3526C>T (p.Arg1176Trp) rs763106782
NM_005219.5(DIAPH1):c.352A>T (p.Ile118Phe) rs769174848
NM_005219.5(DIAPH1):c.3538C>G (p.Gln1180Glu) rs374304870
NM_005219.5(DIAPH1):c.3555A>C (p.Gln1185His)
NM_005219.5(DIAPH1):c.3559A>C (p.Ile1187Leu)
NM_005219.5(DIAPH1):c.3559A>G (p.Ile1187Val)
NM_005219.5(DIAPH1):c.3574+5G>C
NM_005219.5(DIAPH1):c.3576G>A (p.Glu1192=)
NM_005219.5(DIAPH1):c.3589G>T (p.Gly1197Cys)
NM_005219.5(DIAPH1):c.358A>G (p.Ile120Val)
NM_005219.5(DIAPH1):c.3604C>G (p.Leu1202Val) rs2154594918
NM_005219.5(DIAPH1):c.3613_3616del (p.Ala1205fs)
NM_005219.5(DIAPH1):c.3629C>T (p.Ala1210Val) rs1263494333
NM_005219.5(DIAPH1):c.3635T>C (p.Phe1212Ser)
NM_005219.5(DIAPH1):c.3644A>G (p.Lys1215Arg) rs2154594916
NM_005219.5(DIAPH1):c.3655dup (p.Arg1219fs)
NM_005219.5(DIAPH1):c.3659A>G (p.Gln1220Arg)
NM_005219.5(DIAPH1):c.3660A>G (p.Gln1220=)
NM_005219.5(DIAPH1):c.3661G>A (p.Ala1221Thr)
NM_005219.5(DIAPH1):c.3662-1931C>G
NM_005219.5(DIAPH1):c.3662-3C>T
NM_005219.5(DIAPH1):c.3673G>T (p.Ala1225Ser)
NM_005219.5(DIAPH1):c.3676G>A (p.Gly1226Arg)
NM_005219.5(DIAPH1):c.3679T>C (p.Cys1227Arg) rs1466328561
NM_005219.5(DIAPH1):c.3680G>A (p.Cys1227Tyr) rs2154594798
NM_005219.5(DIAPH1):c.3689C>T (p.Thr1230Ile) rs2099885782
NM_005219.5(DIAPH1):c.3694C>G (p.Leu1232Val)
NM_005219.5(DIAPH1):c.369G>C (p.Glu123Asp)
NM_005219.5(DIAPH1):c.3704C>G (p.Ser1235Trp) rs761387295
NM_005219.5(DIAPH1):c.3706G>C (p.Glu1236Gln)
NM_005219.5(DIAPH1):c.3709C>A (p.Leu1237Met)
NM_005219.5(DIAPH1):c.3727A>G (p.Met1243Val) rs1554199642
NM_005219.5(DIAPH1):c.3736G>T (p.Val1246Phe) rs749871871
NM_005219.5(DIAPH1):c.3748G>A (p.Val1250Met) rs1320235178
NM_005219.5(DIAPH1):c.3748G>C (p.Val1250Leu) rs1320235178
NM_005219.5(DIAPH1):c.3764A>G (p.Glu1255Gly) rs2099885774
NM_005219.5(DIAPH1):c.3772C>T (p.Pro1258Ser) rs751282493
NM_005219.5(DIAPH1):c.3775A>G (p.Thr1259Ala)
NM_005219.5(DIAPH1):c.3777A>G (p.Thr1259=) rs1596330487
NM_005219.5(DIAPH1):c.3781C>T (p.Leu1261Phe) rs2154594796
NM_005219.5(DIAPH1):c.3793A>T (p.Lys1265Ter) rs2099885770
NM_005219.5(DIAPH1):c.3809G>T (p.Arg1270Leu) rs371664456
NM_005219.5(DIAPH1):c.380A>G (p.Gln127Arg)
NM_005219.5(DIAPH1):c.3811G>T (p.Ala1271Ser) rs1167599945
NM_005219.5(DIAPH1):c.3818A>C (p.Ter1273Ser)
NM_005219.5(DIAPH1):c.3818A>G (p.Ter1273=)
NM_005219.5(DIAPH1):c.3818A>T (p.Ter1273Leu) rs753432442
NM_005219.5(DIAPH1):c.395C>A (p.Ser132Tyr)
NM_005219.5(DIAPH1):c.402+19A>G
NM_005219.5(DIAPH1):c.402+5G>A
NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)
NM_005219.5(DIAPH1):c.411C>G (p.Ser137Arg)
NM_005219.5(DIAPH1):c.413A>G (p.Gln138Arg) rs1337954890
NM_005219.5(DIAPH1):c.427A>G (p.Lys143Glu)
NM_005219.5(DIAPH1):c.428A>G (p.Lys143Arg)
NM_005219.5(DIAPH1):c.42C>G (p.Thr14=) rs1311391984
NM_005219.5(DIAPH1):c.434C>A (p.Ala145Asp)
NM_005219.5(DIAPH1):c.437T>C (p.Met146Thr)
NM_005219.5(DIAPH1):c.43C>T (p.Arg15Trp)
NM_005219.5(DIAPH1):c.440T>C (p.Met147Thr) rs2154596607
NM_005219.5(DIAPH1):c.443A>G (p.Tyr148Cys)
NM_005219.5(DIAPH1):c.44G>A (p.Arg15Gln) rs1596422064
NM_005219.5(DIAPH1):c.459G>T (p.Arg153Ser) rs748655447
NM_005219.5(DIAPH1):c.467T>C (p.Leu156Ser)
NM_005219.5(DIAPH1):c.468G>T (p.Leu156Phe) rs1562330405
NM_005219.5(DIAPH1):c.469C>G (p.Arg157Gly)
NM_005219.5(DIAPH1):c.469C>T (p.Arg157Trp)
NM_005219.5(DIAPH1):c.477G>T (p.Met159Ile) rs2154596604
NM_005219.5(DIAPH1):c.47A>G (p.Asp16Gly)
NM_005219.5(DIAPH1):c.482T>C (p.Leu161Pro)
NM_005219.5(DIAPH1):c.48C>G (p.Asp16Glu)
NM_005219.5(DIAPH1):c.49AAG[2] (p.Lys19del)
NM_005219.5(DIAPH1):c.50A>G (p.Lys17Arg) rs2099903137
NM_005219.5(DIAPH1):c.538G>A (p.Val180Met) rs370495662
NM_005219.5(DIAPH1):c.544A>G (p.Thr182Ala) rs2099897043
NM_005219.5(DIAPH1):c.556G>C (p.Glu186Gln) rs1440102285
NM_005219.5(DIAPH1):c.58G>A (p.Gly20Ser)
NM_005219.5(DIAPH1):c.590G>A (p.Arg197Gln)
NM_005219.5(DIAPH1):c.596A>G (p.His199Arg) rs2154596588
NM_005219.5(DIAPH1):c.599A>T (p.Asp200Val)
NM_005219.5(DIAPH1):c.59_60delinsAA (p.Gly20Glu) rs2154597565
NM_005219.5(DIAPH1):c.614C>T (p.Thr205Ile) rs1489026152
NM_005219.5(DIAPH1):c.616G>A (p.Ala206Thr) rs2099897035
NM_005219.5(DIAPH1):c.621-3C>T
NM_005219.5(DIAPH1):c.625T>C (p.Tyr209His) rs2154596563
NM_005219.5(DIAPH1):c.62G>A (p.Arg21Gln)
NM_005219.5(DIAPH1):c.634C>T (p.Arg212Trp) rs769781925
NM_005219.5(DIAPH1):c.646G>A (p.Glu216Lys)
NM_005219.5(DIAPH1):c.665A>G (p.Lys222Arg) rs2099896902
NM_005219.5(DIAPH1):c.66C>G (p.Ser22Arg) rs2099903133
NM_005219.5(DIAPH1):c.670T>C (p.Phe224Leu) rs2154596559
NM_005219.5(DIAPH1):c.677A>G (p.Asn226Ser) rs2099896900
NM_005219.5(DIAPH1):c.684+3G>A
NM_005219.5(DIAPH1):c.689G>C (p.Gly230Ala)
NM_005219.5(DIAPH1):c.68C>T (p.Pro23Leu)
NM_005219.5(DIAPH1):c.6G>C (p.Glu2Asp)
NM_005219.5(DIAPH1):c.701T>C (p.Met234Thr)
NM_005219.5(DIAPH1):c.715G>A (p.Glu239Lys)
NM_005219.5(DIAPH1):c.72T>A (p.Asp24Glu) rs1189716868
NM_005219.5(DIAPH1):c.736A>G (p.Arg246Gly)
NM_005219.5(DIAPH1):c.740C>G (p.Ala247Gly)
NM_005219.5(DIAPH1):c.743T>C (p.Met248Thr)
NM_005219.5(DIAPH1):c.751G>A (p.Ala251Thr) rs2154596507
NM_005219.5(DIAPH1):c.757C>G (p.Pro253Ala)
NM_005219.5(DIAPH1):c.757C>T (p.Pro253Ser)
NM_005219.5(DIAPH1):c.75G>C (p.Glu25Asp)
NM_005219.5(DIAPH1):c.761A>G (p.Asn254Ser)
NM_005219.5(DIAPH1):c.770T>C (p.Ile257Thr) rs1160650964
NM_005219.5(DIAPH1):c.809C>T (p.Pro270Leu)
NM_005219.5(DIAPH1):c.825-3C>T rs2099896384
NM_005219.5(DIAPH1):c.825G>A (p.Met275Ile) rs1562326443
NM_005219.5(DIAPH1):c.83C>G (p.Ser28Trp) rs771016727
NM_005219.5(DIAPH1):c.845C>T (p.Ala282Val)
NM_005219.5(DIAPH1):c.854A>T (p.Glu285Val) rs1596384556
NM_005219.5(DIAPH1):c.85G>T (p.Ala29Ser)
NM_005219.5(DIAPH1):c.868G>T (p.Asp290Tyr)
NM_005219.5(DIAPH1):c.86C>T (p.Ala29Val)
NM_005219.5(DIAPH1):c.87G>A (p.Ala29=) rs762960433
NM_005219.5(DIAPH1):c.88G>T (p.Gly30Cys) rs1034109754
NM_005219.5(DIAPH1):c.890C>T (p.Pro297Leu)
NM_005219.5(DIAPH1):c.8C>T (p.Pro3Leu)
NM_005219.5(DIAPH1):c.924T>G (p.Ile308Met)
NM_005219.5(DIAPH1):c.933+3A>G
NM_005219.5(DIAPH1):c.933+5G>A rs2099896370
NM_005219.5(DIAPH1):c.933+7A>G
NM_005219.5(DIAPH1):c.934-3T>G rs886060033
NM_005219.5(DIAPH1):c.941G>C (p.Cys314Ser) rs2099896293
NM_005219.5(DIAPH1):c.961C>G (p.Leu321Val) rs1214669823
NM_005219.5(DIAPH1):c.96C>A (p.Asp32Glu) rs1291832340
NM_005219.5(DIAPH1):c.970C>A (p.Pro324Thr) rs1596384042
NM_005219.5(DIAPH1):c.981A>G (p.Glu327=) rs771490830
NM_005219.5(DIAPH1):c.988T>A (p.Phe330Ile) rs2154596449
NM_005219.5(DIAPH1):c.994G>A (p.Val332Ile) rs1339571940
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) rs864309476
NM_005422.4(TECTA):c.126T>A (p.Asp42Glu)
NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser)
NM_005422.4(TECTA):c.1364A>G (p.Asn455Ser)
NM_005422.4(TECTA):c.140C>G (p.Ser47Cys)
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu) rs760011660
NM_005422.4(TECTA):c.1513G>C (p.Asp505His)
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) rs2135078204
NM_005422.4(TECTA):c.1694G>A (p.Cys565Tyr) rs886047838
NM_005422.4(TECTA):c.1779C>T (p.Ser593=)
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_005422.4(TECTA):c.1905G>T (p.Gln635His) rs775145892
NM_005422.4(TECTA):c.2012G>A (p.Cys671Tyr) rs2135081400
NM_005422.4(TECTA):c.2101G>A (p.Gly701Ser)
NM_005422.4(TECTA):c.211G>A (p.Gly71Arg)
NM_005422.4(TECTA):c.2175C>T (p.Asp725=) rs865971914
NM_005422.4(TECTA):c.2179G>C (p.Ala727Pro) rs759694570
NM_005422.4(TECTA):c.2222A>G (p.Lys741Arg) rs1946634411
NM_005422.4(TECTA):c.2367+6G>T rs555970010
NM_005422.4(TECTA):c.260T>G (p.Phe87Cys)
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys) rs1374232396
NM_005422.4(TECTA):c.286G>C (p.Val96Leu)
NM_005422.4(TECTA):c.2889C>A (p.Ala963=) rs1946659418
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) rs199688655
NM_005422.4(TECTA):c.3132A>C (p.Gln1044His) rs886047839
NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys)
NM_005422.4(TECTA):c.3558G>T (p.Arg1186=) rs766364285
NM_005422.4(TECTA):c.3575A>C (p.Lys1192Thr) rs777712974
NM_005422.4(TECTA):c.36T>G (p.Ser12=) rs2135046516
NM_005422.4(TECTA):c.3760A>G (p.Met1254Val) rs886047841
NM_005422.4(TECTA):c.3762G>A (p.Met1254Ile) rs886047842
NM_005422.4(TECTA):c.377C>T (p.Thr126Ile) rs1378716572
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser) rs148440178
NM_005422.4(TECTA):c.4402G>T (p.Glu1468Ter) rs1565532833
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu) rs374996667
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4613A>G (p.Asn1538Ser)
NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) rs1367267771
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) rs201375747
NM_005422.4(TECTA):c.493A>T (p.Thr165Ser)
NM_005422.4(TECTA):c.5178G>T (p.Lys1726Asn)
NM_005422.4(TECTA):c.528T>C (p.Tyr176=) rs747324937
NM_005422.4(TECTA):c.533T>G (p.Phe178Cys) rs886047835
NM_005422.4(TECTA):c.5431_5433del (p.Met1811del)
NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) rs544020042
NM_005422.4(TECTA):c.5515G>A (p.Gly1839Ser)
NM_005422.4(TECTA):c.5537T>G (p.Ile1846Ser)
NM_005422.4(TECTA):c.5577C>T (p.Asn1859=) rs370609249
NM_005422.4(TECTA):c.5583G>T (p.Val1861=) rs753786546
NM_005422.4(TECTA):c.5587-15C>G rs886047845
NM_005422.4(TECTA):c.5741C>G (p.Pro1914Arg)
NM_005422.4(TECTA):c.5770C>A (p.Pro1924Thr) rs886047846
NM_005422.4(TECTA):c.5829A>G (p.Lys1943=) rs879251219
NM_005422.4(TECTA):c.588C>T (p.Gly196=) rs886047836
NM_005422.4(TECTA):c.6150C>T (p.Tyr2050=) rs374455045
NM_005422.4(TECTA):c.6359G>C (p.Ser2120Thr)
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr) rs1946467660
NM_005422.4(TECTA):c.790+4A>G
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln) rs2151801345
NM_005548.3(KARS1):c.1513C>G (p.Pro505Ala) rs1555512658
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln) rs761347066
NM_005709.4(USH1C):c.1284+6880del rs745622612
NM_005909.5(MAP1B):c.1808C>A (p.Thr603Asn)
NM_005909.5(MAP1B):c.4646T>G (p.Val1549Gly)
NM_005909.5(MAP1B):c.5563G>C (p.Gly1855Arg)
NM_005909.5(MAP1B):c.5842C>T (p.Arg1948Trp)
NM_005909.5(MAP1B):c.7336A>G (p.Met2446Val)
NM_005909.5(MAP1B):c.803G>A (p.Gly268Glu)
NM_005909.5(MAP1B):c.996G>C (p.Glu332Asp)
NM_005982.4(SIX1):c.*1001T>C rs886050568
NM_005982.4(SIX1):c.*140C>T rs1348429370
NM_005982.4(SIX1):c.*688C>T rs1266809909
NM_005982.4(SIX1):c.*858C>T rs1894921331
NM_005982.4(SIX1):c.-213C>G rs771815597
NM_005982.4(SIX1):c.-213C>T rs771815597
NM_005982.4(SIX1):c.-84C>G rs886050572
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) rs1431824329
NM_005982.4(SIX1):c.139G>C (p.Glu47Gln)
NM_005982.4(SIX1):c.14C>A (p.Pro5Gln)
NM_005982.4(SIX1):c.184A>C (p.Asn62His)
NM_005982.4(SIX1):c.321C>T (p.Gly107=)
NM_005982.4(SIX1):c.340A>G (p.Lys114Glu)
NM_005982.4(SIX1):c.356G>A (p.Arg119His)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn)
NM_005982.4(SIX1):c.3G>C (p.Met1Ile)
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) rs2140241105
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys)
NM_005982.4(SIX1):c.428A>G (p.Tyr143Cys)
NM_005982.4(SIX1):c.446del (p.Pro149fs)
NM_005982.4(SIX1):c.457G>C (p.Glu153Gln)
NM_005982.4(SIX1):c.468_480dup (p.Thr161fs)
NM_005982.4(SIX1):c.482C>G (p.Thr161Ser)
NM_005982.4(SIX1):c.487C>T (p.Leu163Phe)
NM_005982.4(SIX1):c.495C>T (p.Thr165=) rs1181935324
NM_005982.4(SIX1):c.501G>C (p.Gln167His) rs2140241012
NM_005982.4(SIX1):c.502G>A (p.Val168Ile)
NM_005982.4(SIX1):c.522C>A (p.Asn174Lys)
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) rs2140240984
NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)
NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)
NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) rs1894944353
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) rs540778343
NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)
NM_005982.4(SIX1):c.713T>A (p.Met238Lys)
NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.816dup (p.Gly273fs)
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)
NM_005982.4(SIX1):c.84G>C (p.Glu28Asp)
NM_006005.3(WFS1):c.*260G>C rs71530909
NM_006005.3(WFS1):c.*526A>C rs886059537
NM_006005.3(WFS1):c.*553G>A rs904935032
NM_006005.3(WFS1):c.-100C>G rs886059524
NM_006005.3(WFS1):c.-43G>C rs1578579501
NM_006005.3(WFS1):c.-55C>G rs886059525
NM_006005.3(WFS1):c.-93G>C rs1729749153
NM_006005.3(WFS1):c.1076T>A (p.Ile359Asn) rs2109125284
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn) rs886059528
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.113G>A (p.Ser38Asn) rs775342800
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.1210C>G (p.Pro404Ala) rs756869880
NM_006005.3(WFS1):c.1243G>A (p.Val415Ile) rs749886570
NM_006005.3(WFS1):c.1243G>C (p.Val415Leu) rs749886570
NM_006005.3(WFS1):c.1309G>T (p.Gly437Cys) rs147974629
NM_006005.3(WFS1):c.1311C>T (p.Gly437=) rs886059529
NM_006005.3(WFS1):c.132C>T (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1364C>T (p.Thr455Met) rs139361521
NM_006005.3(WFS1):c.1419_1427del (p.Met474_Leu476del)
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1509C>T (p.Val503=) rs1267751619
NM_006005.3(WFS1):c.154C>T (p.Pro52Ser) rs111773340
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
NM_006005.3(WFS1):c.1645C>A (p.Leu549Met) rs1801211
NM_006005.3(WFS1):c.169G>A (p.Ala57Thr) rs372783392
NM_006005.3(WFS1):c.172G>A (p.Ala58Thr) rs1057524887
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu) rs140773453
NM_006005.3(WFS1):c.1744G>A (p.Val582Met) rs377677092
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile) rs886059530
NM_006005.3(WFS1):c.1819C>G (p.Pro607Ala) rs780471127
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met) rs376626985
NM_006005.3(WFS1):c.1930G>A (p.Val644Met) rs141570700
NM_006005.3(WFS1):c.1943G>T (p.Trp648Leu) rs150465110
NM_006005.3(WFS1):c.2029G>T (p.Ala677Ser) rs757027394
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val) rs1730936563
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr) rs1730943627
NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp) rs1560421124
NM_006005.3(WFS1):c.2251G>A (p.Glu751Lys) rs147465252
NM_006005.3(WFS1):c.2282C>T (p.Ala761Val) rs71526459
NM_006005.3(WFS1):c.2298C>A (p.His766Gln) rs755328574
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.2340C>A (p.Gly780=) rs886059531
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys) rs71578980
NM_006005.3(WFS1):c.2372G>A (p.Arg791His) rs775659531
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp) rs764842865
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2503A>T (p.Ser835Cys)
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser)
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)
NM_006005.3(WFS1):c.2580C>A (p.His860Gln) rs754802246
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln) rs142469572
NM_006005.3(WFS1):c.2596G>T (p.Asp866Tyr) rs3821945
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.2606G>A (p.Ser869Asn) rs759360634
NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu)
NM_006005.3(WFS1):c.445T>C (p.Leu149=) rs1730394064
NM_006005.3(WFS1):c.623A>G (p.Asn208Ser) rs776488772
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys) rs756667462
NM_006005.3(WFS1):c.81C>T (p.Leu27=) rs777168956
NM_006005.3(WFS1):c.837T>C (p.Pro279=) rs762770133
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys) rs1730845682
NM_006005.3(WFS1):c.889A>G (p.Met297Val) rs1553878254
NM_006005.3(WFS1):c.979C>A (p.Leu327Ile) rs71537678
NM_006383.4(CIB2):c.401G>T (p.Arg134Leu) rs199819065
NM_006383.4(CIB2):c.47A>G (p.Tyr16Cys)
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
NM_007118.4(TRIO):c.652G>A (p.Val218Ile)
NM_012188.5(FOXI1):c.*1094T>C rs1758609305
NM_012188.5(FOXI1):c.*176G>T rs151161274
NM_012188.5(FOXI1):c.*285A>G rs1758584609
NM_012188.5(FOXI1):c.*707C>T rs886060404
NM_012188.5(FOXI1):c.*815C>T rs550211890
NM_012188.5(FOXI1):c.*840G>T rs1758600627
NM_012188.5(FOXI1):c.1004G>A (p.Gly335Asp) rs764345848
NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu) rs749433068
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_012188.5(FOXI1):c.528G>A (p.Ser176=) rs373094576
NM_012188.5(FOXI1):c.568G>C (p.Asp190His) rs886060398
NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)
NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) rs886060399
NM_012188.5(FOXI1):c.972G>C (p.Pro324=) rs56128152
NM_013296.5(GPSM2):c.*476dup rs886045028
NM_013296.5(GPSM2):c.882A>G (p.Leu294=) rs886045025
NM_014332.3(SMPX):c.*181A>G rs2092772738
NM_014332.3(SMPX):c.*232T>G rs1313352273
NM_014332.3(SMPX):c.*45A>T rs1057515838
NM_014332.3(SMPX):c.-54G>A rs1057515840
NM_014332.3(SMPX):c.197C>G (p.Pro66Arg)
NM_014332.3(SMPX):c.264G>A (p.Gln88=) rs1057515839
NM_015205.3(ATP11A):c.80A>G (p.Tyr27Cys)
NM_015205.3(ATP11A):c.914T>A (p.Ile305Asn)
NM_015404.4(WHRN):c.*126C>A rs1834758281
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T rs1834755674
NM_015404.4(WHRN):c.*29T>G rs760640463
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*495T>C rs954067626
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-310G>T rs1844288269
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) rs937343366
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) rs748769354
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015404.4(WHRN):c.1627-7T>G rs1835163569
NM_015404.4(WHRN):c.1929G>A (p.Gln643=) rs1835054839
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) rs376805417
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) rs727504817
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) rs1301232723
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) rs727505255
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.680G>T (p.Gly227Val) rs908185393
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834
NM_016239.4(MYO15A):c.*210A>G rs2047054945
NM_016239.4(MYO15A):c.*324T>G rs2047056207
NM_016239.4(MYO15A):c.*369C>T rs2047056989
NM_016239.4(MYO15A):c.*473G>A rs145664637
NM_016239.4(MYO15A):c.*515C>G rs886052684
NM_016239.4(MYO15A):c.*797C>T rs2047061875
NM_016239.4(MYO15A):c.-223G>T rs1027357950
NM_016239.4(MYO15A):c.-224C>T rs189693278
NM_016239.4(MYO15A):c.-236C>A rs890566879
NM_016239.4(MYO15A):c.-33G>C rs775907651
NM_016239.4(MYO15A):c.10006G>A (p.Glu3336Lys)
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) rs952306971
NM_016239.4(MYO15A):c.10350+6T>C rs2142431211
NM_016239.4(MYO15A):c.1043C>A (p.Pro348Gln) rs202142174
NM_016239.4(MYO15A):c.10475dup (p.Leu3493fs) rs2142436821
NM_016239.4(MYO15A):c.10508G>A (p.Arg3503His)
NM_016239.4(MYO15A):c.10575C>G (p.Ser3525Arg) rs201070092
NM_016239.4(MYO15A):c.1162G>A (p.Gly388Arg) rs886052667
NM_016239.4(MYO15A):c.1450C>G (p.Gln484Glu) rs886052668
NM_016239.4(MYO15A):c.1672G>C (p.Gly558Arg)
NM_016239.4(MYO15A):c.1903G>C (p.Ala635Pro) rs757367598
NM_016239.4(MYO15A):c.2019G>T (p.Gly673=) rs886052669
NM_016239.4(MYO15A):c.2070G>C (p.Pro690=) rs761069955
NM_016239.4(MYO15A):c.2257G>C (p.Ala753Pro) rs776096881
NM_016239.4(MYO15A):c.2259G>T (p.Ala753=) rs886052670
NM_016239.4(MYO15A):c.2336C>T (p.Ser779Leu)
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.2612C>T (p.Thr871Met) rs1307503143
NM_016239.4(MYO15A):c.2670C>T (p.Pro890=) rs886052671
NM_016239.4(MYO15A):c.2766G>A (p.Val922=)
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala) rs1597757405
NM_016239.4(MYO15A):c.2978A>C (p.His993Pro) rs1334008869
NM_016239.4(MYO15A):c.3140C>A (p.Pro1047His) rs77565048
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys) rs375451997
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) rs2142262660
NM_016239.4(MYO15A):c.349_357del (p.Tyr117_Arg119del) rs876657898
NM_016239.4(MYO15A):c.3620T>C (p.Ile1207Thr) rs1365097671
NM_016239.4(MYO15A):c.3658G>A (p.Gly1220Arg) rs146754758
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe) rs1364265842
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.3928T>G (p.Cys1310Gly) rs2142282291
NM_016239.4(MYO15A):c.3971C>A (p.Ala1324Asp) rs1261541284
NM_016239.4(MYO15A):c.4037A>G (p.Lys1346Arg) rs2046141865
NM_016239.4(MYO15A):c.4038+11T>A rs765835098
NM_016239.4(MYO15A):c.4038+6_4038+7insTCAG rs759039332
NM_016239.4(MYO15A):c.4038+8GT[28] rs59214589
NM_016239.4(MYO15A):c.4038+8GT[29] rs59214589
NM_016239.4(MYO15A):c.4038+8GT[30] rs59214589
NM_016239.4(MYO15A):c.4038+8_4038+9insAGGG rs886052672
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) rs1003360290
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) rs2142300755
NM_016239.4(MYO15A):c.4207-8C>G
NM_016239.4(MYO15A):c.4228C>T (p.His1410Tyr) rs2142304025
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) rs1597779977
NM_016239.4(MYO15A):c.4391T>C (p.Val1464Ala) rs1230470125
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) rs201076604
NM_016239.4(MYO15A):c.4507G>T (p.Val1503Leu) rs2046254630
NM_016239.4(MYO15A):c.4567C>A (p.Leu1523Met) rs2046256041
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg) rs1597748342
NM_016239.4(MYO15A):c.4607G>T (p.Arg1536Leu) rs201423655
NM_016239.4(MYO15A):c.4611G>T (p.Glu1537Asp) rs886052673
NM_016239.4(MYO15A):c.4676T>C (p.Leu1559Ser) rs1391365421
NM_016239.4(MYO15A):c.4784T>C (p.Leu1595Pro) rs1368423304
NM_016239.4(MYO15A):c.4817A>G (p.Asn1606Ser) rs2142323278
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5058C>A (p.Asn1686Lys) rs886052674
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) rs2142328605
NM_016239.4(MYO15A):c.5212-13G>A rs772088992
NM_016239.4(MYO15A):c.5360G>A (p.Arg1787Lys) rs2142335062
NM_016239.4(MYO15A):c.5407-5T>G rs766660598
NM_016239.4(MYO15A):c.5492del (p.Gly1831fs) rs747371923
NM_016239.4(MYO15A):c.5507T>C (p.Leu1836Pro) rs1253612362
NM_016239.4(MYO15A):c.5557C>G (p.His1853Asp) rs747691685
NM_016239.4(MYO15A):c.5638G>A (p.Gly1880Arg)
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) rs2142341062
NM_016239.4(MYO15A):c.5709T>A (p.Asn1903Lys) rs886052675
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6338T>A (p.Ile2113Asn) rs2046471942
NM_016239.4(MYO15A):c.63G>A (p.Pro21=) rs769609152
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg) rs1567649779
NM_016239.4(MYO15A):c.655T>G (p.Ser219Ala) rs886052666
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6616T>A (p.Leu2206Ile) rs777487622
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6668C>G (p.Ala2223Gly)
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6821G>T (p.Trp2274Leu) rs2046528137
NM_016239.4(MYO15A):c.6830T>G (p.Leu2277Arg)
NM_016239.4(MYO15A):c.7180C>G (p.Leu2394Val) rs1266157227
NM_016239.4(MYO15A):c.735C>G (p.Tyr245Ter) rs758073713
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) rs201119351
NM_016239.4(MYO15A):c.7662C>A (p.Pro2554=) rs2046579702
NM_016239.4(MYO15A):c.7786A>G (p.Arg2596Gly) rs886052677
NM_016239.4(MYO15A):c.7894-3C>T rs2046594455
NM_016239.4(MYO15A):c.7961C>G (p.Thr2654Ser) rs200355614
NM_016239.4(MYO15A):c.8054A>G (p.Gln2685Arg) rs965967475
NM_016239.4(MYO15A):c.8083A>C (p.Lys2695Gln)
NM_016239.4(MYO15A):c.8089-7C>G rs2046633903
NM_016239.4(MYO15A):c.8108G>C (p.Ser2703Thr) rs886052678
NM_016239.4(MYO15A):c.8148+15C>G rs886052679
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser) rs183969516
NM_016239.4(MYO15A):c.8285T>A (p.Val2762Asp)
NM_016239.4(MYO15A):c.8305T>A (p.Trp2769Arg)
NM_016239.4(MYO15A):c.8315A>C (p.Tyr2772Ser) rs892416685
NM_016239.4(MYO15A):c.8443G>A (p.Val2815Ile) rs886052680
NM_016239.4(MYO15A):c.8459G>C (p.Ser2820Thr) rs2142382409
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) rs2142384242
NM_016239.4(MYO15A):c.853G>A (p.Asp285Asn) rs2045868127
NM_016239.4(MYO15A):c.8549G>C (p.Arg2850Pro) rs568612566
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.8771G>A (p.Arg2924His)
NM_016239.4(MYO15A):c.8812G>A (p.Gly2938Arg)
NM_016239.4(MYO15A):c.894C>G (p.Pro298=) rs199858487
NM_016239.4(MYO15A):c.9083+7G>A rs886052681
NM_016239.4(MYO15A):c.9157-9C>A rs886052682
NM_016239.4(MYO15A):c.9231T>C (p.Ala3077=) rs769414205
NM_016239.4(MYO15A):c.9287T>A (p.Leu3096His)
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
NM_016239.4(MYO15A):c.9401G>C (p.Arg3134Pro) rs373695303
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) rs2142399231
NM_016239.4(MYO15A):c.9517G>A (p.Gly3173Arg) rs2046776291
NM_016239.4(MYO15A):c.9532T>C (p.Cys3178Arg) rs2046792650
NM_016239.4(MYO15A):c.9686G>A (p.Cys3229Tyr) rs780798446
NM_016239.4(MYO15A):c.9691-3C>T rs142996507
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) rs2142412720
NM_016239.4(MYO15A):c.9868A>G (p.Met3290Val) rs2142412949
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) rs2142413074
NM_016239.4(MYO15A):c.9948+11G>C rs200712715
NM_016239.4(MYO15A):c.9984T>C (p.Ser3328=) rs748890115
NM_016356.5(DCDC2):c.1056T>G (p.Asp352Glu)
NM_016356.5(DCDC2):c.1076A>T (p.Asp359Val) rs1393437679
NM_016356.5(DCDC2):c.1165G>A (p.Glu389Lys)
NM_016356.5(DCDC2):c.1207C>T (p.Arg403Cys)
NM_016356.5(DCDC2):c.1219G>C (p.Gly407Arg) rs756047736
NM_016356.5(DCDC2):c.1220G>T (p.Gly407Val)
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.1283A>T (p.Asp428Val) rs375119774
NM_016356.5(DCDC2):c.1313G>T (p.Ser438Ile)
NM_016356.5(DCDC2):c.1318C>T (p.Gln440Ter)
NM_016356.5(DCDC2):c.1406A>C (p.Asn469Thr)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.326C>T (p.Pro109Leu)
NM_016356.5(DCDC2):c.388C>T (p.Arg130Cys)
NM_016356.5(DCDC2):c.463C>T (p.Arg155Cys)
NM_016356.5(DCDC2):c.467T>A (p.Leu156His)
NM_016356.5(DCDC2):c.656C>T (p.Pro219Leu)
NM_016356.5(DCDC2):c.660_661inv (p.Ser221Gly)
NM_016356.5(DCDC2):c.662G>A (p.Ser221Asn)
NM_016356.5(DCDC2):c.690G>A (p.Met230Ile)
NM_016356.5(DCDC2):c.696G>T (p.Arg232Ser)
NM_016356.5(DCDC2):c.728C>G (p.Pro243Arg) rs948355469
NM_016356.5(DCDC2):c.755G>C (p.Gly252Ala)
NM_016356.5(DCDC2):c.802A>G (p.Asn268Asp) rs1438044739
NM_016356.5(DCDC2):c.803A>G (p.Asn268Ser)
NM_016356.5(DCDC2):c.840AGA[1] (p.Glu281del) rs760375899
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His) rs748676214
NM_016356.5(DCDC2):c.866C>T (p.Thr289Met)
NM_016356.5(DCDC2):c.886A>G (p.Lys296Glu)
NM_016356.5(DCDC2):c.965G>C (p.Arg322Pro) rs77150627
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg) rs146587418
NM_016356.5(DCDC2):c.970G>T (p.Ala324Ser) rs1416369642
NM_016356.5(DCDC2):c.992A>T (p.Glu331Val)
NM_016366.3(CABP2):c.127C>T (p.Pro43Ser)
NM_016929.5(CLIC5):c.401A>G (p.Asn134Ser)
NM_017433.4(MYO3A):c.-302G>C rs886046915
NM_017433.5(MYO3A):c.*399del rs558895234
NM_017433.5(MYO3A):c.*399dup rs558895234
NM_017433.5(MYO3A):c.*422C>G rs886046930
NM_017433.5(MYO3A):c.*538G>T rs918987227
NM_017433.5(MYO3A):c.-104-14del rs886046916
NM_017433.5(MYO3A):c.-109C>T rs1835892283
NM_017433.5(MYO3A):c.-37A>G rs564519092
NM_017433.5(MYO3A):c.-50A>G rs886046917
NM_017433.5(MYO3A):c.1053+11_1053+12inv
NM_017433.5(MYO3A):c.1111G>A (p.Val371Met) rs1835017150
NM_017433.5(MYO3A):c.1286_1288del (p.Ile429_Ser430delinsThr) rs886046920
NM_017433.5(MYO3A):c.1561A>C (p.Ile521Leu) rs1198353048
NM_017433.5(MYO3A):c.1588dup (p.Tyr530fs) rs1564543838
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.1792T>C (p.Tyr598His) rs886046923
NM_017433.5(MYO3A):c.2016C>T (p.Thr672=) rs56207573
NM_017433.5(MYO3A):c.2188G>A (p.Glu730Lys) rs138617479
NM_017433.5(MYO3A):c.2263-3T>G rs750600802
NM_017433.5(MYO3A):c.2625G>C (p.Leu875=) rs371741845
NM_017433.5(MYO3A):c.2870A>G (p.Glu957Gly) rs764192576
NM_017433.5(MYO3A):c.332T>C (p.Leu111Pro) rs886046918
NM_017433.5(MYO3A):c.3661C>G (p.Leu1221Val) rs886046924
NM_017433.5(MYO3A):c.3774A>T (p.Leu1258=) rs1842186862
NM_017433.5(MYO3A):c.3862A>G (p.Thr1288Ala) rs886046925
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017433.5(MYO3A):c.4743G>A (p.Ala1581=) rs886046927
NM_017433.5(MYO3A):c.555del (p.Ser185_Val186insTer) rs773432148
NM_017433.5(MYO3A):c.680A>G (p.Asp227Gly) rs1842309816
NM_017433.5(MYO3A):c.938G>A (p.Gly313Asp) rs527881627
NM_018429.3(BDP1):c.*1107T>C rs2112148040
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
NM_018429.3(BDP1):c.5888C>T (p.Pro1963Leu)
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*481G>A rs1842115067
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-6+13A>C rs1847565256
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.1081G>T (p.Ala361Ser) rs774524441
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1106T>C (p.Leu369Pro)
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile) rs1862880669
NM_022124.6(CDH23):c.1566C>T (p.Asp522=) rs1864422770
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala) rs1864515873
NM_022124.6(CDH23):c.1986+10C>A rs1864699424
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) rs2132705726
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) rs1203928940
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala) rs1308326827
NM_022124.6(CDH23):c.280G>C (p.Asp94His)
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) rs2132739969
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.287A>T (p.Glu96Val) rs2132196489
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly) rs751192273
NM_022124.6(CDH23):c.3929C>T (p.Ala1310Val) rs483353051
NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp) rs1839415432
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala) rs1364542092
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_022124.6(CDH23):c.4210-12G>A rs115948943
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=) rs1564768174
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala) rs2132844311
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) rs773842427
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met) rs1446824013
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) rs775013186
NM_022124.6(CDH23):c.4756G>C (p.Ala1586Pro) rs573737471
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys) rs777745599
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5001C>A (p.Asn1667Lys) rs1309537853
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln) rs1483080564
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=) rs777270336
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) rs2132947982
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=) rs542473653
NM_022124.6(CDH23):c.5992G>A (p.Val1998Met) rs2132948074
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) rs2132948196
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) rs2132359067
NM_022124.6(CDH23):c.6191A>G (p.Asp2064Gly)
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu) rs780094972
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu) rs1187008343
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu) rs761674470
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu) rs772264240
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.699C>T (p.Asp233=) rs752101206
NM_022124.6(CDH23):c.7363-8C>A rs2132971255
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=) rs747310070
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro)
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.811A>T (p.Ile271Phe)
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=) rs1841760426
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His) rs202147495
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) rs2132514962
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp) rs2132989902
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys) rs1174493289
NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg) rs2132990819
NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val) rs1352008121
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys) rs376881824
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9078-7C>A rs749510793
NM_022124.6(CDH23):c.9380+5G>C
NM_022124.6(CDH23):c.9381-105C>T
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) rs2133006667
NM_022124.6(CDH23):c.9510+14G>T rs188563959
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) rs763993100
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly) rs532369554
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg) rs1842084788
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) rs2133017674
NM_022772.4(EPS8L2):c.163C>T (p.Gln55Ter)
NM_022772.4(EPS8L2):c.460C>T (p.His154Tyr)
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser) rs940188070
NM_022772.4(EPS8L2):c.985-5C>A
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024009.3(GJB3):c.350dup (p.Tyr117Ter)
NM_024009.3(GJB3):c.421A>G (p.Ile141Val) rs74315320
NM_024009.3(GJB3):c.421_423del (p.Ile141del) rs770247378
NM_024009.3(GJB3):c.652del (p.Leu218fs)
NM_024009.3(GJB3):c.687del (p.Ser230fs)
NM_024022.2(TMPRSS3):c.-178A>C rs886057094
NM_024022.2(TMPRSS3):c.-182G>A rs147296608
NM_024022.2(TMPRSS3):c.-188_-187delCG rs886057095
NM_024022.2(TMPRSS3):c.-198G>A rs56100074
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_031475.2(ESPN):c.2339_2341delAGG rs1399633263
NM_031475.3(ESPN):c.1762G>A (p.Asp588Asn)
NM_031475.3(ESPN):c.2263C>T (p.Arg755Cys)
NM_032236.8(USP48):c.982G>A (p.Glu328Lys)
NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile) rs780662896
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5339C>A (p.Pro1780His) rs1564533607
NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg) rs1564533607
NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) rs978342737
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5653C>T (p.His1885Tyr) rs886047060
NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe) rs2132483191
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033109.5(PNPT1):c.1176+439G>A
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
NM_033109.5(PNPT1):c.2106G>C (p.Met702Ile)
NM_033109.5(PNPT1):c.393T>G (p.Ser131Arg)
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) rs2147796628
NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser) rs2147810509
NM_033641.4(COL4A6):c.227G>A (p.Gly76Glu)
NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser) rs2148048891
NM_033641.4(COL4A6):c.546+1G>A
NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)
NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)
NM_080680.3(COL11A2):c.2114A>G (p.Gln705Arg)
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377
NM_080680.3(COL11A2):c.3890G>T (p.Gly1297Val)
NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly) rs1769033329
NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)
NM_133261.3(GIPC3):c.103C>G (p.Pro35Ala)
NM_133261.3(GIPC3):c.320G>C (p.Arg107Pro) rs2032370674
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr) rs1320335674
NM_133261.3(GIPC3):c.680G>A (p.Gly227Glu) rs756451615
NM_138691.3(TMC1):c.*10T>C rs1829120621
NM_138691.3(TMC1):c.-442T>G rs1823318883
NM_138691.3(TMC1):c.1014C>G (p.Ile338Met)
NM_138691.3(TMC1):c.1201C>A (p.Leu401Ile) rs1271495869
NM_138691.3(TMC1):c.1256T>C (p.Phe419Ser)
NM_138691.3(TMC1):c.1417A>C (p.Lys473Gln) rs993650641
NM_138691.3(TMC1):c.1444T>C (p.Trp482Arg)
NM_138691.3(TMC1):c.1551A>C (p.Glu517Asp) rs2118194338
NM_138691.3(TMC1):c.1641A>G (p.Ala547=)
NM_138691.3(TMC1):c.1765A>G (p.Met589Val) rs2118298286
NM_138691.3(TMC1):c.1975C>A (p.Pro659Thr) rs2118299337
NM_138691.3(TMC1):c.1997C>A (p.Pro666Gln)
NM_138691.3(TMC1):c.2004T>G (p.Ser668Arg) rs1181901214
NM_138691.3(TMC1):c.2011A>G (p.Asn671Asp) rs1828964954
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn) rs1588105861
NM_138691.3(TMC1):c.2204A>C (p.Lys735Thr) rs1057515624
NM_138691.3(TMC1):c.2261-15_2261-14del rs777589679
NM_138691.3(TMC1):c.373A>C (p.Lys125Gln) rs377607548
NM_138691.3(TMC1):c.505C>G (p.Pro169Ala) rs1827407033
NM_138691.3(TMC1):c.545G>T (p.Gly182Val) rs199560971
NM_138691.3(TMC1):c.596A>T (p.Asn199Ile) rs756960425
NM_138691.3(TMC1):c.642+4A>C rs2118056443
NM_138691.3(TMC1):c.665G>A (p.Gly222Asp)
NM_138691.3(TMC1):c.766T>C (p.Phe256Leu)
NM_138691.3(TMC1):c.859T>C (p.Tyr287His)
NM_138691.3(TMC1):c.884C>G (p.Ala295Gly)
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser) rs1060499599
NM_139319.3(SLC17A8):c.*1140T>C rs886048795
NM_139319.3(SLC17A8):c.*1306C>T rs886048796
NM_139319.3(SLC17A8):c.*1486A>G rs886048797
NM_139319.3(SLC17A8):c.*1502T>G rs886048801
NM_139319.3(SLC17A8):c.*1587A>G rs886048802
NM_139319.3(SLC17A8):c.*1716C>T rs886048803
NM_139319.3(SLC17A8):c.*209T>C rs1056524938
NM_139319.3(SLC17A8):c.*335C>T rs886048792
NM_139319.3(SLC17A8):c.*671C>T rs1952943581
NM_139319.3(SLC17A8):c.*715A>C rs886048794
NM_139319.3(SLC17A8):c.-295C>G rs1952451063
NM_139319.3(SLC17A8):c.-311G>A rs575992309
NM_139319.3(SLC17A8):c.-72A>T rs1396619385
NM_139319.3(SLC17A8):c.-93A>G rs908755074
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys) rs567965694
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe) rs886048789
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu) rs753249566
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His) rs151213649
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr) rs1952934512
NM_139319.3(SLC17A8):c.903+1G>A rs1566400632
NM_139319.3(SLC17A8):c.903+5G>A rs1408795860
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala) rs763702478
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val) rs886048788
NM_144498.4(OSBPL2):c.572A>G (p.Asn191Ser) rs1385022544
NM_144498.4(OSBPL2):c.888_890delinsATG (p.Phe296_Met297delinsLeuTrp) rs2145970580
NM_144672.4(OTOA):c.1049T>C (p.Leu350Pro)
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1290_1292del (p.Ile430_Leu431delinsMet)
NM_144672.4(OTOA):c.1348A>G (p.Met450Val) rs2141697579
NM_144672.4(OTOA):c.1472A>C (p.Gln491Pro)
NM_144672.4(OTOA):c.1792C>G (p.Leu598Val) rs765408935
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_144672.4(OTOA):c.267+5G>A
NM_144672.4(OTOA):c.764C>G (p.Ala255Gly)
NM_144672.4(OTOA):c.774A>C (p.Leu258Phe) rs2141672622
NM_144672.4(OTOA):c.795G>T (p.Met265Ile)
NM_144672.4(OTOA):c.96G>T (p.Leu32Phe) rs372826296
NM_144991.3(TSPEAR):c.304-5450G>T rs143105755
NM_144991.3(TSPEAR):c.358G>A (p.Gly120Ser) rs138031432
NM_145309.6(LRRC51):c.330del (p.His110fs) rs2136541413
NM_147196.3(TMIE):c.*1000C>T rs886058577
NM_147196.3(TMIE):c.*719G>A rs558232024
NM_147196.3(TMIE):c.*803C>T rs1700608339
NM_147196.3(TMIE):c.*94A>C rs1700598410
NM_147196.3(TMIE):c.*974C>T rs971138956
NM_147196.3(TMIE):c.144A>G (p.Thr48=) rs886058573
NM_147196.3(TMIE):c.148G>T (p.Val50Leu) rs567795032
NM_147196.3(TMIE):c.366_368del (p.Asp122_Lys123delinsGlu) rs776317788
NM_147196.3(TMIE):c.367AAG[10] (p.Lys131dup) rs10578999
NM_153676.4(USH1C):c.-60T>G rs371444878
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1265del (p.Gly422fs) rs1554957912
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.1543CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
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.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser) rs754365594
NM_153676.4(USH1C):c.1956_1957del (p.His652fs) rs766725582
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.2013+1G>A
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153676.4(USH1C):c.2520C>A (p.Cys840Ter)
NM_153676.4(USH1C):c.2528dup (p.Glu844fs) rs1554953360
NM_153676.4(USH1C):c.2535T>A (p.Tyr845Ter)
NM_153676.4(USH1C):c.2546+1G>A
NM_153676.4(USH1C):c.2661TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.671G>A (p.Cys224Tyr)
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.876T>C (p.Ala292=)
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_153700.2(STRC):c.1576C>T (p.Arg526Cys) rs1555447608
NM_153700.2(STRC):c.2303_2313+1del rs1021413948
NM_153700.2(STRC):c.2539G>A (p.Ala847Thr)
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.4765G>T (p.Val1589Phe) rs147963245
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe) rs727503441
NM_153700.2(STRC):c.5060C>A (p.Ala1687Asp)
NM_170682.4(P2RX2):c.1037C>G (p.Ala346Gly)
NM_170682.4(P2RX2):c.1055T>G (p.Val352Gly) rs2138394748
NM_170682.4(P2RX2):c.459_554+1dup rs2138365971
NM_170682.4(P2RX2):c.490C>T (p.Gln164Ter) rs1488690731
NM_170682.4(P2RX2):c.804_806del (p.Trp268_Asp269delinsCys)
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)
NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
NM_177398.4(LMX1A):c.874G>A (p.Ala292Thr)
NM_177398.4(LMX1A):c.915T>G (p.Ser305Arg)
NM_178335.3(CCDC50):c.1105G>T (p.Asp369Tyr)
NM_178335.3(CCDC50):c.199C>G (p.Leu67Val) rs1459433782
NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
NM_182548.4(LHFPL5):c.*170A>G rs886061346
NM_182548.4(LHFPL5):c.*417TA[3] rs71838634
NM_182548.4(LHFPL5):c.*423_*426del rs780263173
NM_182548.4(LHFPL5):c.*423_*428del rs763619245
NM_182548.4(LHFPL5):c.*425CA[15] rs67626900
NM_182548.4(LHFPL5):c.*425CA[17] rs67626900
NM_182548.4(LHFPL5):c.*425CA[19] rs67626900
NM_182548.4(LHFPL5):c.*443C>T rs1163079029
NM_182548.4(LHFPL5):c.*457C>T rs866657668
NM_182548.4(LHFPL5):c.*461TACA[1] rs886061351
NM_182548.4(LHFPL5):c.*461_*462del rs141571775
NM_182548.4(LHFPL5):c.*461_*466del rs886061354
NM_182548.4(LHFPL5):c.*465_*466del rs1345815951
NM_182548.4(LHFPL5):c.*477TA[3] rs879430131
NM_182548.4(LHFPL5):c.*477TA[5] rs879430131
NM_182548.4(LHFPL5):c.*477_*483delinsCACACACAC rs886061358
NM_182548.4(LHFPL5):c.*480_*481insCA rs879873145
NM_182548.4(LHFPL5):c.*484AC[14] rs70975109
NM_182548.4(LHFPL5):c.*484AC[16] rs70975109
NM_182548.4(LHFPL5):c.*484AC[18] rs70975109
NM_182548.4(LHFPL5):c.*505_*506insTC rs886061361
NM_182548.4(LHFPL5):c.*505_*506insTCTC rs886061361
NM_182548.4(LHFPL5):c.*506_*512delinsTCTCTCTCTCT rs886061362
NM_182548.4(LHFPL5):c.*507_*508insTCTC rs879320336
NM_182548.4(LHFPL5):c.*508A>T rs371866936
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCT rs886061364
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCTCT rs886061364
NM_182548.4(LHFPL5):c.*509_*510insTC rs554538772
NM_182548.4(LHFPL5):c.*509_*510insTCTC rs554538772
NM_182548.4(LHFPL5):c.*510TC[4] rs554538772
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCT rs886061366
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCTCT rs886061366
NM_182548.4(LHFPL5):c.*511_*512insTC rs774401637
NM_182548.4(LHFPL5):c.*512TC[3] rs774401637
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCT rs886061368
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCTCT rs886061368
NM_182548.4(LHFPL5):c.*514TC[10] rs57581979
NM_182548.4(LHFPL5):c.*514TC[6] rs57581979
NM_182548.4(LHFPL5):c.*790A>G rs886061372
NM_182548.4(LHFPL5):c.-128C>T rs146758343
NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) rs886061345
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) rs140326236
NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) rs1768557675
NM_194248.3(OTOF):c.*18-4C>T rs1664280618
NM_194248.3(OTOF):c.*348G>T rs112312933
NM_194248.3(OTOF):c.*474C>T rs1664255863
NM_194248.3(OTOF):c.*812C>T rs139652991
NM_194248.3(OTOF):c.-110AGG[3] rs886055882
NM_194248.3(OTOF):c.1045+2T>G rs111033341
NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
NM_194248.3(OTOF):c.1227G>C (p.Gly409=) rs886055879
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1538A>G (p.His513Arg)
NM_194248.3(OTOF):c.1696C>T (p.Arg566Trp) rs760584389
NM_194248.3(OTOF):c.1803+13G>A rs886055878
NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
NM_194248.3(OTOF):c.2029G>C (p.Gly677Arg) rs781547633
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) rs794729640
NM_194248.3(OTOF):c.2215-1G>A rs1558486388
NM_194248.3(OTOF):c.2256G>A (p.Glu752=)
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.2750G>A (p.Gly917Asp) rs1218641736
NM_194248.3(OTOF):c.2788C>G (p.Pro930Ala) rs746541787
NM_194248.3(OTOF):c.2928C>T (p.Asp976=) rs534758736
NM_194248.3(OTOF):c.2962TTC[1] (p.Phe989del) rs1423777622
NM_194248.3(OTOF):c.2992-14A>G rs370041999
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala) rs1665210196
NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.32C>A (p.Ser11Ter) rs200972155
NM_194248.3(OTOF):c.3305A>G (p.Lys1102Arg)
NM_194248.3(OTOF):c.3348A>G (p.Arg1116=) rs572579351
NM_194248.3(OTOF):c.3464G>A (p.Arg1155Gln)
NM_194248.3(OTOF):c.3913AAG[5] (p.Lys1310del) rs368148603
NM_194248.3(OTOF):c.3913AAG[7] (p.Lys1310dup) rs368148603
NM_194248.3(OTOF):c.4033CAA[1] (p.Gln1346del)
NM_194248.3(OTOF):c.4239A>G (p.Lys1413=) rs886055876
NM_194248.3(OTOF):c.4290C>T (p.Asn1430=) rs566846495
NM_194248.3(OTOF):c.4332C>T (p.Thr1444=) rs149236286
NM_194248.3(OTOF):c.4509C>A (p.Asp1503Glu) rs1335296783
NM_194248.3(OTOF):c.4628+5G>C rs1664706577
NM_194248.3(OTOF):c.4655C>T (p.Pro1552Leu) rs2148027757
NM_194248.3(OTOF):c.4773C>A (p.Thr1591=) rs1664691704
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_194248.3(OTOF):c.5040C>T (p.Arg1680=) rs1664608827
NM_194248.3(OTOF):c.505C>T (p.Arg169Trp) rs61744348
NM_194248.3(OTOF):c.5097C>G (p.Ile1699Met) rs12386239
NM_194248.3(OTOF):c.5103+2T>A rs1323329701
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.51C>T (p.Gly17=) rs142333075
NM_194248.3(OTOF):c.5245G>T (p.Asp1749Tyr) rs555613193
NM_194248.3(OTOF):c.5291+5G>A
NM_194248.3(OTOF):c.5379C>G (p.Tyr1793Ter) rs1558466620
NM_194248.3(OTOF):c.5440A>G (p.Met1814Val) rs886055874
NM_194248.3(OTOF):c.5537C>G (p.Ala1846Gly) rs770709835
NM_194248.3(OTOF):c.5785A>C (p.Asn1929His) rs896148523
NM_194248.3(OTOF):c.5864G>A (p.Arg1955His)
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_194248.3(OTOF):c.658T>A (p.Ser220Thr)
NM_194248.3(OTOF):c.731T>C (p.Met244Thr) rs1666121138
NM_194248.3(OTOF):c.97C>T (p.Arg33Trp) rs150867836
NM_198999.3(SLC26A5):c.-157_-155del rs372231501
NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)
NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)
NM_206933.4(USH2A):c.13964T>C (p.Leu4655Pro)
Single allele

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