ClinVar Miner

List of variants studied for Usher syndrome type 1 by Natera, Inc.

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 831
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.1003+10C>T rs782382971
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=) rs573947142
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro)
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=)
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693
NM_000260.4(MYO7A):c.132+6T>C
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+6G>A
NM_000260.4(MYO7A):c.1343+7C>T rs782595035
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=) rs782195221
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=) rs746423219
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.156C>T (p.Asn52=)
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.1635T>C (p.His545=)
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=) rs782763913
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)
NM_000260.4(MYO7A):c.1797+7C>T
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg) rs968552859
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu)
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
NM_000260.4(MYO7A):c.19-9C>T rs368452072
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met)
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu) rs782485961
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=)
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys) rs782364394
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)
NM_000260.4(MYO7A):c.2095-4C>G rs763060756
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser)
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp) rs886048676
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe) rs1224881006
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu) rs782757893
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln)
NM_000260.4(MYO7A):c.2282+5G>A rs540145750
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=)
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=)
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro)
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro)
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=) rs782711428
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=) rs782594184
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=)
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln)
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser)
NM_000260.4(MYO7A):c.286-5C>T rs111033471
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=)
NM_000260.4(MYO7A):c.3109-68G>A rs2276287
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser) rs370104824
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg)
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=) rs370305347
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=) rs561459113
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn) rs372050452
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser)
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=) rs1555087287
NM_000260.4(MYO7A):c.3503+8C>A
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=) rs782788403
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
NM_000260.4(MYO7A):c.359G>A (p.Arg120His) rs369493667
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)
NM_000260.4(MYO7A):c.3631-6C>A
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu) rs727504710
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys)
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3750+5G>A rs111033391
NM_000260.4(MYO7A):c.3750+7G>A rs397516305
NM_000260.4(MYO7A):c.3750+8C>T
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=) rs754599732
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu)
NM_000260.4(MYO7A):c.3924+8C>T rs565801140
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981
NM_000260.4(MYO7A):c.3954C>T (p.His1318=) rs749218462
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=)
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu)
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val) rs727504594
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=) rs1591438864
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=) rs374492441
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys)
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=) rs767236447
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=)
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=) rs757971917
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=) rs376892582
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val)
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=)
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) rs374655803
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg)
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=)
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=) rs374162462
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys)
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys)
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5169-5G>A rs727505232
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
NM_000260.4(MYO7A):c.519G>A (p.Gln173=) rs369757929
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln)
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr) rs762131185
NM_000260.4(MYO7A):c.5327-5C>G
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=) rs372062718
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=) rs910989813
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=) rs748080151
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg) rs397516319
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=) rs140664109
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) rs373886432
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=) rs747516555
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn)
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=)
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.5857-7A>T rs1320703
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly)
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.593-5C>T rs762666
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu)
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg) rs560293591
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met) rs532542968
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp) rs1173853484
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=)
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met)
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn)
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327
NM_000260.4(MYO7A):c.617G>A (p.Arg206His) rs781998354
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp)
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys)
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys) rs121965080
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu)
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=)
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del)
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile)
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg)
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=)
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=) rs778498696
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) rs544709413
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=) rs185748200
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=) rs370866578
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr)
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.4(MYO7A):c.735+3G>A
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala) rs782636303
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667
NM_000260.4(MYO7A):c.78G>A (p.Ala26=) rs373517098
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln) rs535205981
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285
NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala)
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu)
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala)
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val)
NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del)
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser)
NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr)
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu)
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val)
NM_001384140.1(PCDH15):c.2751+7G>T
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr)
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg)
NM_001384140.1(PCDH15):c.3410A>G (p.Glu1137Gly)
NM_001384140.1(PCDH15):c.3502-13dup
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe)
NM_001384140.1(PCDH15):c.3987T>G (p.Phe1329Leu)
NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly)
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
NM_001384140.1(PCDH15):c.4318C>G (p.Pro1440Ala)
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)
NM_001384140.1(PCDH15):c.4368-1649C>G
NM_001384140.1(PCDH15):c.4368-1827_4368-1825del
NM_001384140.1(PCDH15):c.4368-1895_4368-1893del rs113363047
NM_001384140.1(PCDH15):c.4368-1897A>G
NM_001384140.1(PCDH15):c.4368-1899C>G
NM_001384140.1(PCDH15):c.4368-2116A>C
NM_001384140.1(PCDH15):c.4368-2318C>T
NM_001384140.1(PCDH15):c.4368-2598_4368-2595dup
NM_001384140.1(PCDH15):c.4368-2768G>A
NM_001384140.1(PCDH15):c.4368-2900C>T
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=)
NM_001384140.1(PCDH15):c.876+7A>G
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) rs756425157
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=) rs538081113
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189
NM_022124.6(CDH23):c.1141-12C>T
NM_022124.6(CDH23):c.1141-3C>T
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=) rs528720730
NM_022124.6(CDH23):c.1281C>T (p.Tyr427=) rs1349593079
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe)
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) rs727504613
NM_022124.6(CDH23):c.137C>T (p.Thr46Met) rs727504613
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly)
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn) rs200459094
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
NM_022124.6(CDH23):c.1618G>A (p.Gly540Ser)
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp) rs375781856
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.190C>T (p.Pro64Ser)
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr)
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.1978G>A (p.Glu660Lys)
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.1990G>A (p.Glu664Lys)
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2059+10C>T
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2162T>A (p.Ile721Asn)
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
NM_022124.6(CDH23):c.2170C>G (p.Arg724Gly)
NM_022124.6(CDH23):c.2182A>G (p.Ile728Val)
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
NM_022124.6(CDH23):c.2193G>A (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2283C>T (p.Ile761=) rs267602568
NM_022124.6(CDH23):c.2289+1G>A rs769433759
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) rs199709482
NM_022124.6(CDH23):c.2330C>T (p.Thr777Met)
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.255C>T (p.Gly85=)
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.6(CDH23):c.256G>A (p.Val86Met)
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.2592C>G (p.Gly864=)
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.6(CDH23):c.2712G>A (p.Pro904=) rs570110527
NM_022124.6(CDH23):c.2715G>A (p.Ala905=)
NM_022124.6(CDH23):c.2745C>T (p.Ile915=) rs183220886
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) rs371670151
NM_022124.6(CDH23):c.276A>G (p.Pro92=)
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu)
NM_022124.6(CDH23):c.2814C>T (p.Phe938=) rs749588146
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) rs779133533
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys)
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=)
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) rs1064796283
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320
NM_022124.6(CDH23):c.3093C>T (p.Ser1031=)
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185
NM_022124.6(CDH23):c.3221-7C>T rs776427467
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln) rs397517322
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=)
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) rs562052236
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509
NM_022124.6(CDH23):c.3431-6A>T rs377614198
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln)
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser)
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln)
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp)
NM_022124.6(CDH23):c.3522C>T (p.His1174=) rs750705577
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg)
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met) rs372158876
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met) rs758413650
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743
NM_022124.6(CDH23):c.387G>A (p.Ala129=) rs201919232
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=)
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=)
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg)
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=)
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=) rs201008425
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.42T>C (p.Leu14=)
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.4418A>G (p.Asn1473Ser)
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=) rs763102268
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu)
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) rs201533282
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4729C>T (p.Arg1577Cys)
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=)
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His)
NM_022124.6(CDH23):c.4793G>A (p.Ser1598Asn)
NM_022124.6(CDH23):c.4853C>T (p.Thr1618Met)
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=) rs376538879
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.4863C>T (p.Tyr1621=) rs374797859
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
NM_022124.6(CDH23):c.4884T>C (p.Asn1628=) rs777745599
NM_022124.6(CDH23):c.4937G>A (p.Gly1646Asp) rs759019656
NM_022124.6(CDH23):c.4978C>T (p.Leu1660=)
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621
NM_022124.6(CDH23):c.5004C>T (p.Gly1668=)
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) rs377269771
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala)
NM_022124.6(CDH23):c.5187+4G>A
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=) rs371522191
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=)
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5443G>A (p.Ala1815Thr)
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln)
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)
NM_022124.6(CDH23):c.570C>G (p.Ile190Met)
NM_022124.6(CDH23):c.5719A>T (p.Ile1907Phe)
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.5735G>A (p.Arg1912Gln)
NM_022124.6(CDH23):c.5743G>A (p.Asp1915Asn)
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=) rs370965108
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr)
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met)
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045
NM_022124.6(CDH23):c.612G>A (p.Thr204=) rs200200488
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6140G>A (p.Gly2047Glu)
NM_022124.6(CDH23):c.6163C>T (p.Leu2055=) rs536022792
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.625-10G>A
NM_022124.6(CDH23):c.6320G>A (p.Arg2107Gln)
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val)
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) rs368440578
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) rs727504894
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=)
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) rs201942629
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn) rs769241730
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.662A>C (p.Asn221Thr)
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272
NM_022124.6(CDH23):c.6678C>T (p.Asn2226=) rs372120764
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) rs727504694
NM_022124.6(CDH23):c.68-3C>T rs142456469
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
NM_022124.6(CDH23):c.6830-7A>C rs200587627
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) rs750385396
NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile)
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His)
NM_022124.6(CDH23):c.7022C>G (p.Pro2341Arg)
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=) rs1287792582
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.7114G>A (p.Val2372Met)
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) rs181197242
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=)
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.7569G>A (p.Pro2523=) rs533989797
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7581G>A (p.Ser2527=)
NM_022124.6(CDH23):c.7661-8A>G rs754067214
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711
NM_022124.6(CDH23):c.772A>G (p.Ile258Val) rs370782827
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His)
NM_022124.6(CDH23):c.7873-4A>G
NM_022124.6(CDH23):c.7893C>T (p.Asn2631=)
NM_022124.6(CDH23):c.79C>T (p.Arg27Trp)
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8154C>T (p.Asn2718=)
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=)
NM_022124.6(CDH23):c.8225C>G (p.Pro2742Arg)
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=) rs372846962
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) rs397517356
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
NM_022124.6(CDH23):c.8283C>T (p.Asn2761=) rs397517357
NM_022124.6(CDH23):c.8304C>T (p.Ile2768=) rs760929762
NM_022124.6(CDH23):c.8310C>T (p.Ala2770=) rs749582906
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440
NM_022124.6(CDH23):c.8316C>T (p.Asn2772=) rs368145346
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys)
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
NM_022124.6(CDH23):c.8406C>T (p.Ile2802=) rs752125151
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=) rs755841293
NM_022124.6(CDH23):c.8425C>T (p.Arg2809Cys)
NM_022124.6(CDH23):c.8437C>T (p.Pro2813Ser)
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293
NM_022124.6(CDH23):c.8463C>T (p.Leu2821=)
NM_022124.6(CDH23):c.8479C>T (p.Leu2827Phe)
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532
NM_022124.6(CDH23):c.8570C>T (p.Thr2857Ile)
NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr)
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) rs397517361
NM_022124.6(CDH23):c.8729T>C (p.Met2910Thr) rs374171450
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=)
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met)
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769
NM_022124.6(CDH23):c.8869G>A (p.Val2957Ile)
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=) rs375720093
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.901C>A (p.Arg301=)
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser)
NM_022124.6(CDH23):c.9198+10G>A
NM_022124.6(CDH23):c.9198+7G>A rs761980521
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029
NM_022124.6(CDH23):c.9349A>G (p.Met3117Val)
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.9458C>T (p.Pro3153Leu)
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) rs754557923
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile)
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_022124.6(CDH23):c.9606C>A (p.Gly3202=) rs193244823
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=)
NM_022124.6(CDH23):c.9806G>A (p.Arg3269His)
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004
NM_022124.6(CDH23):c.9870C>A (p.Gly3290=)
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933
NM_033056.3(PCDH15):c.4368-13_4368-10dup rs530804327
NM_033056.4(PCDH15):c.1185T>C (p.Phe395=) rs1427922641
NM_033056.4(PCDH15):c.1263T>C (p.Thr421=) rs7921598
NM_033056.4(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.4(PCDH15):c.131T>C (p.Val44Ala) rs750302536
NM_033056.4(PCDH15):c.1339G>A (p.Asp447Asn) rs150509146
NM_033056.4(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.4(PCDH15):c.1377T>C (p.Ile459=) rs763593526
NM_033056.4(PCDH15):c.1440+7A>C rs540070936
NM_033056.4(PCDH15):c.146A>G (p.Glu49Gly)
NM_033056.4(PCDH15):c.1494A>G (p.Gln498=) rs145141405
NM_033056.4(PCDH15):c.157+3A>G rs41274636
NM_033056.4(PCDH15):c.1812A>C (p.Glu604Asp)
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.4(PCDH15):c.1979T>A (p.Val660Asp)
NM_033056.4(PCDH15):c.2000C>T (p.Thr667Met)
NM_033056.4(PCDH15):c.2001G>A (p.Thr667=)
NM_033056.4(PCDH15):c.2051A>G (p.Tyr684Cys) rs372076259
NM_033056.4(PCDH15):c.2082G>A (p.Arg694=) rs756484846
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562
NM_033056.4(PCDH15):c.2202C>T (p.Ala734=) rs201636125
NM_033056.4(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057
NM_033056.4(PCDH15):c.2325G>A (p.Val775=) rs200792575
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.2439T>A (p.Asp813Glu) rs397517453
NM_033056.4(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.4(PCDH15):c.2550A>C (p.Ala850=) rs140893140
NM_033056.4(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.2731A>G (p.Thr911Ala)
NM_033056.4(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.298G>A (p.Gly100Arg)
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.3009+7G>A rs201161336
NM_033056.4(PCDH15):c.321A>C (p.Pro107=) rs1345969752
NM_033056.4(PCDH15):c.3328G>A (p.Asp1110Asn)
NM_033056.4(PCDH15):c.3374-4C>T rs111739360
NM_033056.4(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3456T>C (p.Gly1152=) rs202091131
NM_033056.4(PCDH15):c.3502-6G>A rs749897896
NM_033056.4(PCDH15):c.3502-7C>T rs757876538
NM_033056.4(PCDH15):c.3522C>A (p.Gly1174=) rs753725514
NM_033056.4(PCDH15):c.3700G>A (p.Gly1234Ser)
NM_033056.4(PCDH15):c.3711T>C (p.Asp1237=) rs61731382
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3753T>C (p.Ile1251=) rs139873638
NM_033056.4(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
NM_033056.4(PCDH15):c.3951C>T (p.Thr1317=) rs144955298
NM_033056.4(PCDH15):c.4048C>T (p.Arg1350Cys)
NM_033056.4(PCDH15):c.4049G>A (p.Arg1350His) rs752356781
NM_033056.4(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.4(PCDH15):c.4260C>T (p.Pro1420=) rs775658931
NM_033056.4(PCDH15):c.4316C>T (p.Pro1439Leu) rs374714898
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs) rs545191822
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys)
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup)
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu) rs143438666
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg) rs727504812
NM_033056.4(PCDH15):c.521A>G (p.Asn174Ser) rs145037203
NM_033056.4(PCDH15):c.526G>A (p.Ala176Thr)
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=) rs767304005
NM_033056.4(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu) rs147727092
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)
NM_033056.4(PCDH15):c.593C>T (p.Pro198Leu) rs145232643
NM_033056.4(PCDH15):c.679C>T (p.Arg227Cys) rs565693539
NM_033056.4(PCDH15):c.706-8C>T rs10740579
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033056.4(PCDH15):c.882A>G (p.Glu294=) rs181232514
NM_033056.4(PCDH15):c.944C>T (p.Pro315Leu)
NM_033056.4(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1101A>G (p.Glu367=) rs764975771
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp) rs202174251
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.4(USH1C):c.1211-1134G>A rs115931035
NM_153676.4(USH1C):c.1211-1140G>A
NM_153676.4(USH1C):c.1211-1152G>A rs116996553
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1211-1177G>T
NM_153676.4(USH1C):c.127G>A (p.Val43Met) rs145500807
NM_153676.4(USH1C):c.135C>T (p.Asp45=) rs140319839
NM_153676.4(USH1C):c.164G>A (p.Arg55His) rs1042393529
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2374C>A (p.Arg792=) rs200428926
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
NM_153676.4(USH1C):c.2381-10C>T rs765925104
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234
NM_153676.4(USH1C):c.324T>C (p.Phe108=) rs549758189
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.405C>G (p.Val135=)
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
NM_153676.4(USH1C):c.567G>T (p.Val189=)
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878
NM_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543
NM_153676.4(USH1C):c.759+10G>T rs368528034
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
NM_153676.4(USH1C):c.790G>A (p.Val264Ile) rs79875849
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
NM_153676.4(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln) rs140424216

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