Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71732051G>ACA470283697C10orf105,CDH23c.3780G>A (p.Glu1260=)
c.3777G>A (p.Glu1259=)
c.3795G>A (p.Glu1265=)
c.-6+5677C>T (n.-6+5677C>T)
n.472G>A
c.3975G>A (p.Glu1325=)
c.3909G>A (p.Glu1303=)
c.3969G>A (p.Glu1323=)
c.3915G>A (p.Glu1305=)
c.3840G>A (p.Glu1280=)
c.3435G>A (p.Glu1145=)
c.2793G>A (p.Glu931=)
c.303G>A (p.Glu101=)
n.4218G>A
10g.71732051G>CCA377155938C10orf105,CDH23c.3780G>C (p.Glu1260Asp)
c.3777G>C (p.Glu1259Asp)
c.3795G>C (p.Glu1265Asp)
c.-6+5677C>G (n.-6+5677C>G)
n.472G>C
c.3975G>C (p.Glu1325Asp)
c.3909G>C (p.Glu1303Asp)
c.3969G>C (p.Glu1323Asp)
c.3915G>C (p.Glu1305Asp)
c.3840G>C (p.Glu1280Asp)
c.3435G>C (p.Glu1145Asp)
c.2793G>C (p.Glu931Asp)
c.303G>C (p.Glu101Asp)
n.4218G>C
10g.71732051G>TCA377155940C10orf105,CDH23c.3780G>T (p.Glu1260Asp)
c.3777G>T (p.Glu1259Asp)
c.3795G>T (p.Glu1265Asp)
c.-6+5677C>A (n.-6+5677C>A)
n.472G>T
c.3975G>T (p.Glu1325Asp)
c.3909G>T (p.Glu1303Asp)
c.3969G>T (p.Glu1323Asp)
c.3915G>T (p.Glu1305Asp)
c.3840G>T (p.Glu1280Asp)
c.3435G>T (p.Glu1145Asp)
c.2793G>T (p.Glu931Asp)
c.303G>T (p.Glu101Asp)
n.4218G>T
10g.71732052A>CCA377155946C10orf105,CDH23c.3781A>C (p.Ser1261Arg)
c.3778A>C (p.Ser1260Arg)
c.3796A>C (p.Ser1266Arg)
c.-6+5676T>G (n.-6+5676T>G)
n.473A>C
c.3976A>C (p.Ser1326Arg)
c.3910A>C (p.Ser1304Arg)
c.3970A>C (p.Ser1324Arg)
c.3916A>C (p.Ser1306Arg)
c.3841A>C (p.Ser1281Arg)
c.3436A>C (p.Ser1146Arg)
c.2794A>C (p.Ser932Arg)
c.304A>C (p.Ser102Arg)
n.4219A>C
10g.71732052A>GCA377155949C10orf105,CDH23c.3781A>G (p.Ser1261Gly)
c.3778A>G (p.Ser1260Gly)
c.3796A>G (p.Ser1266Gly)
c.-6+5676T>C (n.-6+5676T>C)
n.473A>G
c.3976A>G (p.Ser1326Gly)
c.3910A>G (p.Ser1304Gly)
c.3970A>G (p.Ser1324Gly)
c.3916A>G (p.Ser1306Gly)
c.3841A>G (p.Ser1281Gly)
c.3436A>G (p.Ser1146Gly)
c.2794A>G (p.Ser932Gly)
c.304A>G (p.Ser102Gly)
n.4219A>G
dbSNP gnomAD v4
10g.71732052A>TCA377155951C10orf105,CDH23c.3781A>T (p.Ser1261Cys)
c.3778A>T (p.Ser1260Cys)
c.3796A>T (p.Ser1266Cys)
c.-6+5676T>A (n.-6+5676T>A)
n.473A>T
c.3976A>T (p.Ser1326Cys)
c.3910A>T (p.Ser1304Cys)
c.3970A>T (p.Ser1324Cys)
c.3916A>T (p.Ser1306Cys)
c.3841A>T (p.Ser1281Cys)
c.3436A>T (p.Ser1146Cys)
c.2794A>T (p.Ser932Cys)
c.304A>T (p.Ser102Cys)
n.4219A>T
COSMIC COSMIC
10g.71732053G>ACA377155953C10orf105,CDH23c.3782G>A (p.Ser1261Asn)
c.3779G>A (p.Ser1260Asn)
c.3797G>A (p.Ser1266Asn)
c.-6+5675C>T (n.-6+5675C>T)
n.474G>A
c.3977G>A (p.Ser1326Asn)
c.3911G>A (p.Ser1304Asn)
c.3971G>A (p.Ser1324Asn)
c.3917G>A (p.Ser1306Asn)
c.3842G>A (p.Ser1281Asn)
c.3437G>A (p.Ser1146Asn)
c.2795G>A (p.Ser932Asn)
c.305G>A (p.Ser102Asn)
n.4220G>A
dbSNP gnomAD v4
10g.71732053G>CCA377155956C10orf105,CDH23c.3782G>C (p.Ser1261Thr)
c.3779G>C (p.Ser1260Thr)
c.3797G>C (p.Ser1266Thr)
c.-6+5675C>G (n.-6+5675C>G)
n.474G>C
c.3977G>C (p.Ser1326Thr)
c.3911G>C (p.Ser1304Thr)
c.3971G>C (p.Ser1324Thr)
c.3917G>C (p.Ser1306Thr)
c.3842G>C (p.Ser1281Thr)
c.3437G>C (p.Ser1146Thr)
c.2795G>C (p.Ser932Thr)
c.305G>C (p.Ser102Thr)
n.4220G>C
10g.71732053G>TCA377155958C10orf105,CDH23c.3782G>T (p.Ser1261Ile)
c.3779G>T (p.Ser1260Ile)
c.3797G>T (p.Ser1266Ile)
c.-6+5675C>A (n.-6+5675C>A)
n.474G>T
c.3977G>T (p.Ser1326Ile)
c.3911G>T (p.Ser1304Ile)
c.3971G>T (p.Ser1324Ile)
c.3917G>T (p.Ser1306Ile)
c.3842G>T (p.Ser1281Ile)
c.3437G>T (p.Ser1146Ile)
c.2795G>T (p.Ser932Ile)
c.305G>T (p.Ser102Ile)
n.4220G>T
10g.71732054C>ACA377155960C10orf105,CDH23c.3783C>A (p.Ser1261Arg)
c.3780C>A (p.Ser1260Arg)
c.3798C>A (p.Ser1266Arg)
c.-6+5674G>T (n.-6+5674G>T)
n.475C>A
c.3978C>A (p.Ser1326Arg)
c.3912C>A (p.Ser1304Arg)
c.3972C>A (p.Ser1324Arg)
c.3918C>A (p.Ser1306Arg)
c.3843C>A (p.Ser1281Arg)
c.3438C>A (p.Ser1146Arg)
c.2796C>A (p.Ser932Arg)
c.306C>A (p.Ser102Arg)
n.4221C>A
dbSNP
10g.71732054C=CA1918849657C10orf105,CDH23c.3783C= (p.Ser1261=)
c.3780C= (p.Ser1260=)
c.3798C= (p.Ser1266=)
c.-6+5674G= (n.-6+5674G=)
n.475C=
c.3978C= (p.Ser1326=)
c.3912C= (p.Ser1304=)
c.3972C= (p.Ser1324=)
c.3918C= (p.Ser1306=)
c.3843C= (p.Ser1281=)
c.3438C= (p.Ser1146=)
c.2796C= (p.Ser932=)
c.306C= (p.Ser102=)
n.4221C=
10g.71732054C>GCA377155963C10orf105,CDH23c.3783C>G (p.Ser1261Arg)
c.3780C>G (p.Ser1260Arg)
c.3798C>G (p.Ser1266Arg)
c.-6+5674G>C (n.-6+5674G>C)
n.475C>G
c.3978C>G (p.Ser1326Arg)
c.3912C>G (p.Ser1304Arg)
c.3972C>G (p.Ser1324Arg)
c.3918C>G (p.Ser1306Arg)
c.3843C>G (p.Ser1281Arg)
c.3438C>G (p.Ser1146Arg)
c.2796C>G (p.Ser932Arg)
c.306C>G (p.Ser102Arg)
n.4221C>G
10g.71732054C>TCA470283699C10orf105,CDH23c.3783C>T (p.Ser1261=)
c.3780C>T (p.Ser1260=)
c.3798C>T (p.Ser1266=)
c.-6+5674G>A (n.-6+5674G>A)
n.475C>T
c.3978C>T (p.Ser1326=)
c.3912C>T (p.Ser1304=)
c.3972C>T (p.Ser1324=)
c.3918C>T (p.Ser1306=)
c.3843C>T (p.Ser1281=)
c.3438C>T (p.Ser1146=)
c.2796C>T (p.Ser932=)
c.306C>T (p.Ser102=)
n.4221C>T
ClinVar dbSNP
10g.71732055A=CA1918849658C10orf105,CDH23c.3784A= (p.Thr1262=)
c.3781A= (p.Thr1261=)
c.3799A= (p.Thr1267=)
c.-6+5673T= (n.-6+5673T=)
n.476A=
c.3979A= (p.Thr1327=)
c.3913A= (p.Thr1305=)
c.3973A= (p.Thr1325=)
c.3919A= (p.Thr1307=)
c.3844A= (p.Thr1282=)
c.3439A= (p.Thr1147=)
c.2797A= (p.Thr933=)
c.307A= (p.Thr103=)
n.4222A=
10g.71732055A>CCA10606912C10orf105,CDH23c.3784A>C (p.Thr1262Pro)
c.3781A>C (p.Thr1261Pro)
c.3799A>C (p.Thr1267Pro)
c.-6+5673T>G (n.-6+5673T>G)
n.476A>C
c.3979A>C (p.Thr1327Pro)
c.3913A>C (p.Thr1305Pro)
c.3973A>C (p.Thr1325Pro)
c.3919A>C (p.Thr1307Pro)
c.3844A>C (p.Thr1282Pro)
c.3439A>C (p.Thr1147Pro)
c.2797A>C (p.Thr933Pro)
c.307A>C (p.Thr103Pro)
n.4222A>C
ClinVar dbSNP gnomAD v4
10g.71732055A>GCA377155973C10orf105,CDH23c.3784A>G (p.Thr1262Ala)
c.3781A>G (p.Thr1261Ala)
c.3799A>G (p.Thr1267Ala)
c.-6+5673T>C (n.-6+5673T>C)
n.476A>G
c.3979A>G (p.Thr1327Ala)
c.3913A>G (p.Thr1305Ala)
c.3973A>G (p.Thr1325Ala)
c.3919A>G (p.Thr1307Ala)
c.3844A>G (p.Thr1282Ala)
c.3439A>G (p.Thr1147Ala)
c.2797A>G (p.Thr933Ala)
c.307A>G (p.Thr103Ala)
n.4222A>G
gnomAD v4
10g.71732055A>TCA377155970C10orf105,CDH23c.3784A>T (p.Thr1262Ser)
c.3781A>T (p.Thr1261Ser)
c.3799A>T (p.Thr1267Ser)
c.-6+5673T>A (n.-6+5673T>A)
n.476A>T
c.3979A>T (p.Thr1327Ser)
c.3913A>T (p.Thr1305Ser)
c.3973A>T (p.Thr1325Ser)
c.3919A>T (p.Thr1307Ser)
c.3844A>T (p.Thr1282Ser)
c.3439A>T (p.Thr1147Ser)
c.2797A>T (p.Thr933Ser)
c.307A>T (p.Thr103Ser)
n.4222A>T
10g.71732056C>ACA377155977C10orf105,CDH23c.3785C>A (p.Thr1262Lys)
c.3782C>A (p.Thr1261Lys)
c.3800C>A (p.Thr1267Lys)
c.-6+5672G>T (n.-6+5672G>T)
n.477C>A
c.3980C>A (p.Thr1327Lys)
c.3914C>A (p.Thr1305Lys)
c.3974C>A (p.Thr1325Lys)
c.3920C>A (p.Thr1307Lys)
c.3845C>A (p.Thr1282Lys)
c.3440C>A (p.Thr1147Lys)
c.2798C>A (p.Thr933Lys)
c.308C>A (p.Thr103Lys)
n.4223C>A
dbSNP
10g.71732056C>GCA377155983C10orf105,CDH23c.3785C>G (p.Thr1262Arg)
c.3782C>G (p.Thr1261Arg)
c.3800C>G (p.Thr1267Arg)
c.-6+5672G>C (n.-6+5672G>C)
n.477C>G
c.3980C>G (p.Thr1327Arg)
c.3914C>G (p.Thr1305Arg)
c.3974C>G (p.Thr1325Arg)
c.3920C>G (p.Thr1307Arg)
c.3845C>G (p.Thr1282Arg)
c.3440C>G (p.Thr1147Arg)
c.2798C>G (p.Thr933Arg)
c.308C>G (p.Thr103Arg)
n.4223C>G
dbSNP
10g.71732056C>TCA377155980C10orf105,CDH23c.3785C>T (p.Thr1262Ile)
c.3782C>T (p.Thr1261Ile)
c.3800C>T (p.Thr1267Ile)
c.-6+5672G>A (n.-6+5672G>A)
n.477C>T
c.3980C>T (p.Thr1327Ile)
c.3914C>T (p.Thr1305Ile)
c.3974C>T (p.Thr1325Ile)
c.3920C>T (p.Thr1307Ile)
c.3845C>T (p.Thr1282Ile)
c.3440C>T (p.Thr1147Ile)
c.2798C>T (p.Thr933Ile)
c.308C>T (p.Thr103Ile)
n.4223C>T
gnomAD v4
10g.71732057A>CCA470283701C10orf105,CDH23c.3786A>C (p.Thr1262=)
c.3783A>C (p.Thr1261=)
c.3801A>C (p.Thr1267=)
c.-6+5671T>G (n.-6+5671T>G)
n.478A>C
c.3981A>C (p.Thr1327=)
c.3915A>C (p.Thr1305=)
c.3975A>C (p.Thr1325=)
c.3921A>C (p.Thr1307=)
c.3846A>C (p.Thr1282=)
c.3441A>C (p.Thr1147=)
c.2799A>C (p.Thr933=)
c.309A>C (p.Thr103=)
n.4224A>C
10g.71732057A>GCA470283702C10orf105,CDH23c.3786A>G (p.Thr1262=)
c.3783A>G (p.Thr1261=)
c.3801A>G (p.Thr1267=)
c.-6+5671T>C (n.-6+5671T>C)
n.478A>G
c.3981A>G (p.Thr1327=)
c.3915A>G (p.Thr1305=)
c.3975A>G (p.Thr1325=)
c.3921A>G (p.Thr1307=)
c.3846A>G (p.Thr1282=)
c.3441A>G (p.Thr1147=)
c.2799A>G (p.Thr933=)
c.309A>G (p.Thr103=)
n.4224A>G
10g.71732057A>TCA470283703C10orf105,CDH23c.3786A>T (p.Thr1262=)
c.3783A>T (p.Thr1261=)
c.3801A>T (p.Thr1267=)
c.-6+5671T>A (n.-6+5671T>A)
n.478A>T
c.3981A>T (p.Thr1327=)
c.3915A>T (p.Thr1305=)
c.3975A>T (p.Thr1325=)
c.3921A>T (p.Thr1307=)
c.3846A>T (p.Thr1282=)
c.3441A>T (p.Thr1147=)
c.2799A>T (p.Thr933=)
c.309A>T (p.Thr103=)
n.4224A>T
10g.71732058G>ACA377155985C10orf105,CDH23c.3787G>A (p.Gly1263Arg)
c.3784G>A (p.Gly1262Arg)
c.3802G>A (p.Gly1268Arg)
c.-6+5670C>T (n.-6+5670C>T)
n.479G>A
c.3982G>A (p.Gly1328Arg)
c.3916G>A (p.Gly1306Arg)
c.3976G>A (p.Gly1326Arg)
c.3922G>A (p.Gly1308Arg)
c.3847G>A (p.Gly1283Arg)
c.3442G>A (p.Gly1148Arg)
c.2800G>A (p.Gly934Arg)
c.310G>A (p.Gly104Arg)
n.4225G>A
10g.71732058G>CCA377155986C10orf105,CDH23c.3787G>C (p.Gly1263Arg)
c.3784G>C (p.Gly1262Arg)
c.3802G>C (p.Gly1268Arg)
c.-6+5670C>G (n.-6+5670C>G)
n.479G>C
c.3982G>C (p.Gly1328Arg)
c.3916G>C (p.Gly1306Arg)
c.3976G>C (p.Gly1326Arg)
c.3922G>C (p.Gly1308Arg)
c.3847G>C (p.Gly1283Arg)
c.3442G>C (p.Gly1148Arg)
c.2800G>C (p.Gly934Arg)
c.310G>C (p.Gly104Arg)
n.4225G>C
10g.71732058G>TCA377155987C10orf105,CDH23c.3787G>T (p.Gly1263Trp)
c.3784G>T (p.Gly1262Trp)
c.3802G>T (p.Gly1268Trp)
c.-6+5670C>A (n.-6+5670C>A)
n.479G>T
c.3982G>T (p.Gly1328Trp)
c.3916G>T (p.Gly1306Trp)
c.3976G>T (p.Gly1326Trp)
c.3922G>T (p.Gly1308Trp)
c.3847G>T (p.Gly1283Trp)
c.3442G>T (p.Gly1148Trp)
c.2800G>T (p.Gly934Trp)
c.310G>T (p.Gly104Trp)
n.4225G>T
10g.71732059G>ACA377155990C10orf105,CDH23c.3788G>A (p.Gly1263Glu)
c.3785G>A (p.Gly1262Glu)
c.3803G>A (p.Gly1268Glu)
c.-6+5669C>T (n.-6+5669C>T)
n.480G>A
c.3983G>A (p.Gly1328Glu)
c.3917G>A (p.Gly1306Glu)
c.3977G>A (p.Gly1326Glu)
c.3923G>A (p.Gly1308Glu)
c.3848G>A (p.Gly1283Glu)
c.3443G>A (p.Gly1148Glu)
c.2801G>A (p.Gly934Glu)
c.311G>A (p.Gly104Glu)
n.4226G>A
10g.71732059G>CCA377155991C10orf105,CDH23c.3788G>C (p.Gly1263Ala)
c.3785G>C (p.Gly1262Ala)
c.3803G>C (p.Gly1268Ala)
c.-6+5669C>G (n.-6+5669C>G)
n.480G>C
c.3983G>C (p.Gly1328Ala)
c.3917G>C (p.Gly1306Ala)
c.3977G>C (p.Gly1326Ala)
c.3923G>C (p.Gly1308Ala)
c.3848G>C (p.Gly1283Ala)
c.3443G>C (p.Gly1148Ala)
c.2801G>C (p.Gly934Ala)
c.311G>C (p.Gly104Ala)
n.4226G>C
dbSNP
10g.71732059G>TCA377155993C10orf105,CDH23c.3788G>T (p.Gly1263Val)
c.3785G>T (p.Gly1262Val)
c.3803G>T (p.Gly1268Val)
c.-6+5669C>A (n.-6+5669C>A)
n.480G>T
c.3983G>T (p.Gly1328Val)
c.3917G>T (p.Gly1306Val)
c.3977G>T (p.Gly1326Val)
c.3923G>T (p.Gly1308Val)
c.3848G>T (p.Gly1283Val)
c.3443G>T (p.Gly1148Val)
c.2801G>T (p.Gly934Val)
c.311G>T (p.Gly104Val)
n.4226G>T
10g.71732060G>ACA470283705C10orf105,CDH23c.3789G>A (p.Gly1263=)
c.3786G>A (p.Gly1262=)
c.3804G>A (p.Gly1268=)
c.-6+5668C>T (n.-6+5668C>T)
n.481G>A
c.3984G>A (p.Gly1328=)
c.3918G>A (p.Gly1306=)
c.3978G>A (p.Gly1326=)
c.3924G>A (p.Gly1308=)
c.3849G>A (p.Gly1283=)
c.3444G>A (p.Gly1148=)
c.2802G>A (p.Gly934=)
c.312G>A (p.Gly104=)
n.4227G>A
10g.71732060G>CCA470283706C10orf105,CDH23c.3789G>C (p.Gly1263=)
c.3786G>C (p.Gly1262=)
c.3804G>C (p.Gly1268=)
c.-6+5668C>G (n.-6+5668C>G)
n.481G>C
c.3984G>C (p.Gly1328=)
c.3918G>C (p.Gly1306=)
c.3978G>C (p.Gly1326=)
c.3924G>C (p.Gly1308=)
c.3849G>C (p.Gly1283=)
c.3444G>C (p.Gly1148=)
c.2802G>C (p.Gly934=)
c.312G>C (p.Gly104=)
n.4227G>C
dbSNP
10g.71732060G=CA1918849659C10orf105,CDH23c.3789G= (p.Gly1263=)
c.3786G= (p.Gly1262=)
c.3804G= (p.Gly1268=)
c.-6+5668C= (n.-6+5668C=)
n.481G=
c.3984G= (p.Gly1328=)
c.3918G= (p.Gly1306=)
c.3978G= (p.Gly1326=)
c.3924G= (p.Gly1308=)
c.3849G= (p.Gly1283=)
c.3444G= (p.Gly1148=)
c.2802G= (p.Gly934=)
c.312G= (p.Gly104=)
n.4227G=
10g.71732060G>TCA470283707C10orf105,CDH23c.3789G>T (p.Gly1263=)
c.3786G>T (p.Gly1262=)
c.3804G>T (p.Gly1268=)
c.-6+5668C>A (n.-6+5668C>A)
n.481G>T
c.3984G>T (p.Gly1328=)
c.3918G>T (p.Gly1306=)
c.3978G>T (p.Gly1326=)
c.3924G>T (p.Gly1308=)
c.3849G>T (p.Gly1283=)
c.3444G>T (p.Gly1148=)
c.2802G>T (p.Gly934=)
c.312G>T (p.Gly104=)
n.4227G>T
dbSNP
10g.71732061C>ACA377155999C10orf105,CDH23c.3790C>A (p.Leu1264Ile)
c.3787C>A (p.Leu1263Ile)
c.3805C>A (p.Leu1269Ile)
c.-6+5667G>T (n.-6+5667G>T)
n.482C>A
c.3985C>A (p.Leu1329Ile)
c.3919C>A (p.Leu1307Ile)
c.3979C>A (p.Leu1327Ile)
c.3925C>A (p.Leu1309Ile)
c.3850C>A (p.Leu1284Ile)
c.3445C>A (p.Leu1149Ile)
c.2803C>A (p.Leu935Ile)
c.313C>A (p.Leu105Ile)
n.4228C>A
10g.71732061C=CA1918849660C10orf105,CDH23c.3790C= (p.Leu1264=)
c.3787C= (p.Leu1263=)
c.3805C= (p.Leu1269=)
c.-6+5667G= (n.-6+5667G=)
n.482C=
c.3985C= (p.Leu1329=)
c.3919C= (p.Leu1307=)
c.3979C= (p.Leu1327=)
c.3925C= (p.Leu1309=)
c.3850C= (p.Leu1284=)
c.3445C= (p.Leu1149=)
c.2803C= (p.Leu935=)
c.313C= (p.Leu105=)
n.4228C=
10g.71732061C>GCA377156000C10orf105,CDH23c.3790C>G (p.Leu1264Val)
c.3787C>G (p.Leu1263Val)
c.3805C>G (p.Leu1269Val)
c.-6+5667G>C (n.-6+5667G>C)
n.482C>G
c.3985C>G (p.Leu1329Val)
c.3919C>G (p.Leu1307Val)
c.3979C>G (p.Leu1327Val)
c.3925C>G (p.Leu1309Val)
c.3850C>G (p.Leu1284Val)
c.3445C>G (p.Leu1149Val)
c.2803C>G (p.Leu935Val)
c.313C>G (p.Leu105Val)
n.4228C>G
10g.71732061C>TCA209480480C10orf105,CDH23c.3790C>T (p.Leu1264Phe)
c.3787C>T (p.Leu1263Phe)
c.3805C>T (p.Leu1269Phe)
c.-6+5667G>A (n.-6+5667G>A)
n.482C>T
c.3985C>T (p.Leu1329Phe)
c.3919C>T (p.Leu1307Phe)
c.3979C>T (p.Leu1327Phe)
c.3925C>T (p.Leu1309Phe)
c.3850C>T (p.Leu1284Phe)
c.3445C>T (p.Leu1149Phe)
c.2803C>T (p.Leu935Phe)
c.313C>T (p.Leu105Phe)
n.4228C>T
dbSNP gnomAD v3 gnomAD v4
10g.71732062T>ACA377156004C10orf105,CDH23c.3791T>A (p.Leu1264His)
c.3788T>A (p.Leu1263His)
c.3806T>A (p.Leu1269His)
c.-6+5666A>T (n.-6+5666A>T)
n.483T>A
c.3986T>A (p.Leu1329His)
c.3920T>A (p.Leu1307His)
c.3980T>A (p.Leu1327His)
c.3926T>A (p.Leu1309His)
c.3851T>A (p.Leu1284His)
c.3446T>A (p.Leu1149His)
c.2804T>A (p.Leu935His)
c.314T>A (p.Leu105His)
n.4229T>A
10g.71732062T>CCA377156005C10orf105,CDH23c.3791T>C (p.Leu1264Pro)
c.3788T>C (p.Leu1263Pro)
c.3806T>C (p.Leu1269Pro)
c.-6+5666A>G (n.-6+5666A>G)
n.483T>C
c.3986T>C (p.Leu1329Pro)
c.3920T>C (p.Leu1307Pro)
c.3980T>C (p.Leu1327Pro)
c.3926T>C (p.Leu1309Pro)
c.3851T>C (p.Leu1284Pro)
c.3446T>C (p.Leu1149Pro)
c.2804T>C (p.Leu935Pro)
c.314T>C (p.Leu105Pro)
n.4229T>C
10g.71732062T>GCA377156006C10orf105,CDH23c.3791T>G (p.Leu1264Arg)
c.3788T>G (p.Leu1263Arg)
c.3806T>G (p.Leu1269Arg)
c.-6+5666A>C (n.-6+5666A>C)
n.483T>G
c.3986T>G (p.Leu1329Arg)
c.3920T>G (p.Leu1307Arg)
c.3980T>G (p.Leu1327Arg)
c.3926T>G (p.Leu1309Arg)
c.3851T>G (p.Leu1284Arg)
c.3446T>G (p.Leu1149Arg)
c.2804T>G (p.Leu935Arg)
c.314T>G (p.Leu105Arg)
n.4229T>G
10g.71732063T>ACA470283708C10orf105,CDH23c.3792T>A (p.Leu1264=)
c.3789T>A (p.Leu1263=)
c.3807T>A (p.Leu1269=)
c.-6+5665A>T (n.-6+5665A>T)
n.484T>A
c.3987T>A (p.Leu1329=)
c.3921T>A (p.Leu1307=)
c.3981T>A (p.Leu1327=)
c.3927T>A (p.Leu1309=)
c.3852T>A (p.Leu1284=)
c.3447T>A (p.Leu1149=)
c.2805T>A (p.Leu935=)
c.315T>A (p.Leu105=)
n.4230T>A
10g.71732063T>CCA470283709C10orf105,CDH23c.3792T>C (p.Leu1264=)
c.3789T>C (p.Leu1263=)
c.3807T>C (p.Leu1269=)
c.-6+5665A>G (n.-6+5665A>G)
n.484T>C
c.3987T>C (p.Leu1329=)
c.3921T>C (p.Leu1307=)
c.3981T>C (p.Leu1327=)
c.3927T>C (p.Leu1309=)
c.3852T>C (p.Leu1284=)
c.3447T>C (p.Leu1149=)
c.2805T>C (p.Leu935=)
c.315T>C (p.Leu105=)
n.4230T>C
gnomAD v4
10g.71732063T>GCA470283710C10orf105,CDH23c.3792T>G (p.Leu1264=)
c.3789T>G (p.Leu1263=)
c.3807T>G (p.Leu1269=)
c.-6+5665A>C (n.-6+5665A>C)
n.484T>G
c.3987T>G (p.Leu1329=)
c.3921T>G (p.Leu1307=)
c.3981T>G (p.Leu1327=)
c.3927T>G (p.Leu1309=)
c.3852T>G (p.Leu1284=)
c.3447T>G (p.Leu1149=)
c.2805T>G (p.Leu935=)
c.315T>G (p.Leu105=)
n.4230T>G
10g.71732064A>CCA377156010C10orf105,CDH23c.3793A>C (p.Ile1265Leu)
c.3790A>C (p.Ile1264Leu)
c.3808A>C (p.Ile1270Leu)
c.-6+5664T>G (n.-6+5664T>G)
n.485A>C
c.3988A>C (p.Ile1330Leu)
c.3922A>C (p.Ile1308Leu)
c.3982A>C (p.Ile1328Leu)
c.3928A>C (p.Ile1310Leu)
c.3853A>C (p.Ile1285Leu)
c.3448A>C (p.Ile1150Leu)
c.2806A>C (p.Ile936Leu)
c.316A>C (p.Ile106Leu)
n.4231A>C
10g.71732064A>GCA377156007C10orf105,CDH23c.3793A>G (p.Ile1265Val)
c.3790A>G (p.Ile1264Val)
c.3808A>G (p.Ile1270Val)
c.-6+5664T>C (n.-6+5664T>C)
n.485A>G
c.3988A>G (p.Ile1330Val)
c.3922A>G (p.Ile1308Val)
c.3982A>G (p.Ile1328Val)
c.3928A>G (p.Ile1310Val)
c.3853A>G (p.Ile1285Val)
c.3448A>G (p.Ile1150Val)
c.2806A>G (p.Ile936Val)
c.316A>G (p.Ile106Val)
n.4231A>G
10g.71732064A>TCA377156008C10orf105,CDH23c.3793A>T (p.Ile1265Phe)
c.3790A>T (p.Ile1264Phe)
c.3808A>T (p.Ile1270Phe)
c.-6+5664T>A (n.-6+5664T>A)
n.485A>T
c.3988A>T (p.Ile1330Phe)
c.3922A>T (p.Ile1308Phe)
c.3982A>T (p.Ile1328Phe)
c.3928A>T (p.Ile1310Phe)
c.3853A>T (p.Ile1285Phe)
c.3448A>T (p.Ile1150Phe)
c.2806A>T (p.Ile936Phe)
c.316A>T (p.Ile106Phe)
n.4231A>T
10g.71732065T>ACA377156011C10orf105,CDH23c.3794T>A (p.Ile1265Asn)
c.3791T>A (p.Ile1264Asn)
c.3809T>A (p.Ile1270Asn)
c.-6+5663A>T (n.-6+5663A>T)
n.486T>A
c.3989T>A (p.Ile1330Asn)
c.3923T>A (p.Ile1308Asn)
c.3983T>A (p.Ile1328Asn)
c.3929T>A (p.Ile1310Asn)
c.3854T>A (p.Ile1285Asn)
c.3449T>A (p.Ile1150Asn)
c.2807T>A (p.Ile936Asn)
c.317T>A (p.Ile106Asn)
n.4232T>A
10g.71732065T>CCA377156012C10orf105,CDH23c.3794T>C (p.Ile1265Thr)
c.3791T>C (p.Ile1264Thr)
c.3809T>C (p.Ile1270Thr)
c.-6+5663A>G (n.-6+5663A>G)
n.486T>C
c.3989T>C (p.Ile1330Thr)
c.3923T>C (p.Ile1308Thr)
c.3983T>C (p.Ile1328Thr)
c.3929T>C (p.Ile1310Thr)
c.3854T>C (p.Ile1285Thr)
c.3449T>C (p.Ile1150Thr)
c.2807T>C (p.Ile936Thr)
c.317T>C (p.Ile106Thr)
n.4232T>C
10g.71732065T>GCA377156014C10orf105,CDH23c.3794T>G (p.Ile1265Ser)
c.3791T>G (p.Ile1264Ser)
c.3809T>G (p.Ile1270Ser)
c.-6+5663A>C (n.-6+5663A>C)
n.486T>G
c.3989T>G (p.Ile1330Ser)
c.3923T>G (p.Ile1308Ser)
c.3983T>G (p.Ile1328Ser)
c.3929T>G (p.Ile1310Ser)
c.3854T>G (p.Ile1285Ser)
c.3449T>G (p.Ile1150Ser)
c.2807T>G (p.Ile936Ser)
c.317T>G (p.Ile106Ser)
n.4232T>G
10g.71732066C>ACA470283712C10orf105,CDH23c.3795C>A (p.Ile1265=)
c.3792C>A (p.Ile1264=)
c.3810C>A (p.Ile1270=)
c.-6+5662G>T (n.-6+5662G>T)
n.487C>A
c.3990C>A (p.Ile1330=)
c.3924C>A (p.Ile1308=)
c.3984C>A (p.Ile1328=)
c.3930C>A (p.Ile1310=)
c.3855C>A (p.Ile1285=)
c.3450C>A (p.Ile1150=)
c.2808C>A (p.Ile936=)
c.318C>A (p.Ile106=)
n.4233C>A
10g.71732066C=CA1918849661C10orf105,CDH23c.3795C= (p.Ile1265=)
c.3792C= (p.Ile1264=)
c.3810C= (p.Ile1270=)
c.-6+5662G= (n.-6+5662G=)
n.487C=
c.3990C= (p.Ile1330=)
c.3924C= (p.Ile1308=)
c.3984C= (p.Ile1328=)
c.3930C= (p.Ile1310=)
c.3855C= (p.Ile1285=)
c.3450C= (p.Ile1150=)
c.2808C= (p.Ile936=)
c.318C= (p.Ile106=)
n.4233C=
10g.71732066C>GCA377156016C10orf105,CDH23c.3795C>G (p.Ile1265Met)
c.3792C>G (p.Ile1264Met)
c.3810C>G (p.Ile1270Met)
c.-6+5662G>C (n.-6+5662G>C)
n.487C>G
c.3990C>G (p.Ile1330Met)
c.3924C>G (p.Ile1308Met)
c.3984C>G (p.Ile1328Met)
c.3930C>G (p.Ile1310Met)
c.3855C>G (p.Ile1285Met)
c.3450C>G (p.Ile1150Met)
c.2808C>G (p.Ile936Met)
c.318C>G (p.Ile106Met)
n.4233C>G
10g.71732066C>TCA209480484C10orf105,CDH23c.3795C>T (p.Ile1265=)
c.3792C>T (p.Ile1264=)
c.3810C>T (p.Ile1270=)
c.-6+5662G>A (n.-6+5662G>A)
n.487C>T
c.3990C>T (p.Ile1330=)
c.3924C>T (p.Ile1308=)
c.3984C>T (p.Ile1328=)
c.3930C>T (p.Ile1310=)
c.3855C>T (p.Ile1285=)
c.3450C>T (p.Ile1150=)
c.2808C>T (p.Ile936=)
c.318C>T (p.Ile106=)
n.4233C>T
ClinVar dbSNP gnomAD v4
10g.71732067A>CCA377156019C10orf105,CDH23c.3796A>C (p.Ile1266Leu)
c.3793A>C (p.Ile1265Leu)
c.3811A>C (p.Ile1271Leu)
c.-6+5661T>G (n.-6+5661T>G)
n.488A>C
c.3991A>C (p.Ile1331Leu)
c.3925A>C (p.Ile1309Leu)
c.3985A>C (p.Ile1329Leu)
c.3931A>C (p.Ile1311Leu)
c.3856A>C (p.Ile1286Leu)
c.3451A>C (p.Ile1151Leu)
c.2809A>C (p.Ile937Leu)
c.319A>C (p.Ile107Leu)
n.4234A>C
10g.71732067A>GCA377156022C10orf105,CDH23c.3796A>G (p.Ile1266Val)
c.3793A>G (p.Ile1265Val)
c.3811A>G (p.Ile1271Val)
c.-6+5661T>C (n.-6+5661T>C)
n.488A>G
c.3991A>G (p.Ile1331Val)
c.3925A>G (p.Ile1309Val)
c.3985A>G (p.Ile1329Val)
c.3931A>G (p.Ile1311Val)
c.3856A>G (p.Ile1286Val)
c.3451A>G (p.Ile1151Val)
c.2809A>G (p.Ile937Val)
c.319A>G (p.Ile107Val)
n.4234A>G
ClinVar
10g.71732067A>TCA377156026C10orf105,CDH23c.3796A>T (p.Ile1266Phe)
c.3793A>T (p.Ile1265Phe)
c.3811A>T (p.Ile1271Phe)
c.-6+5661T>A (n.-6+5661T>A)
n.488A>T
c.3991A>T (p.Ile1331Phe)
c.3925A>T (p.Ile1309Phe)
c.3985A>T (p.Ile1329Phe)
c.3931A>T (p.Ile1311Phe)
c.3856A>T (p.Ile1286Phe)
c.3451A>T (p.Ile1151Phe)
c.2809A>T (p.Ile937Phe)
c.319A>T (p.Ile107Phe)
n.4234A>T
10g.71732068T>ACA377156029C10orf105,CDH23c.3797T>A (p.Ile1266Asn)
c.3794T>A (p.Ile1265Asn)
c.3812T>A (p.Ile1271Asn)
c.-6+5660A>T (n.-6+5660A>T)
n.489T>A
c.3992T>A (p.Ile1331Asn)
c.3926T>A (p.Ile1309Asn)
c.3986T>A (p.Ile1329Asn)
c.3932T>A (p.Ile1311Asn)
c.3857T>A (p.Ile1286Asn)
c.3452T>A (p.Ile1151Asn)
c.2810T>A (p.Ile937Asn)
c.320T>A (p.Ile107Asn)
n.4235T>A
10g.71732068T>CCA377156041C10orf105,CDH23c.3797T>C (p.Ile1266Thr)
c.3794T>C (p.Ile1265Thr)
c.3812T>C (p.Ile1271Thr)
c.-6+5660A>G (n.-6+5660A>G)
n.489T>C
c.3992T>C (p.Ile1331Thr)
c.3926T>C (p.Ile1309Thr)
c.3986T>C (p.Ile1329Thr)
c.3932T>C (p.Ile1311Thr)
c.3857T>C (p.Ile1286Thr)
c.3452T>C (p.Ile1151Thr)
c.2810T>C (p.Ile937Thr)
c.320T>C (p.Ile107Thr)
n.4235T>C
10g.71732068T>GCA377156043C10orf105,CDH23c.3797T>G (p.Ile1266Ser)
c.3794T>G (p.Ile1265Ser)
c.3812T>G (p.Ile1271Ser)
c.-6+5660A>C (n.-6+5660A>C)
n.489T>G
c.3992T>G (p.Ile1331Ser)
c.3926T>G (p.Ile1309Ser)
c.3986T>G (p.Ile1329Ser)
c.3932T>G (p.Ile1311Ser)
c.3857T>G (p.Ile1286Ser)
c.3452T>G (p.Ile1151Ser)
c.2810T>G (p.Ile937Ser)
c.320T>G (p.Ile107Ser)
n.4235T>G
10g.71732069C>ACA470283714C10orf105,CDH23c.3798C>A (p.Ile1266=)
c.3795C>A (p.Ile1265=)
c.3813C>A (p.Ile1271=)
c.-6+5659G>T (n.-6+5659G>T)
n.490C>A
c.3993C>A (p.Ile1331=)
c.3927C>A (p.Ile1309=)
c.3987C>A (p.Ile1329=)
c.3933C>A (p.Ile1311=)
c.3858C>A (p.Ile1286=)
c.3453C>A (p.Ile1151=)
c.2811C>A (p.Ile937=)
c.321C>A (p.Ile107=)
n.4236C>A
10g.71732069C=CA1918849662C10orf105,CDH23c.3798C= (p.Ile1266=)
c.3795C= (p.Ile1265=)
c.3813C= (p.Ile1271=)
c.-6+5659G= (n.-6+5659G=)
n.490C=
c.3993C= (p.Ile1331=)
c.3927C= (p.Ile1309=)
c.3987C= (p.Ile1329=)
c.3933C= (p.Ile1311=)
c.3858C= (p.Ile1286=)
c.3453C= (p.Ile1151=)
c.2811C= (p.Ile937=)
c.321C= (p.Ile107=)
n.4236C=
10g.71732069C>GCA377156045C10orf105,CDH23c.3798C>G (p.Ile1266Met)
c.3795C>G (p.Ile1265Met)
c.3813C>G (p.Ile1271Met)
c.-6+5659G>C (n.-6+5659G>C)
n.490C>G
c.3993C>G (p.Ile1331Met)
c.3927C>G (p.Ile1309Met)
c.3987C>G (p.Ile1329Met)
c.3933C>G (p.Ile1311Met)
c.3858C>G (p.Ile1286Met)
c.3453C>G (p.Ile1151Met)
c.2811C>G (p.Ile937Met)
c.321C>G (p.Ile107Met)
n.4236C>G
10g.71732069C>TCA470283715C10orf105,CDH23c.3798C>T (p.Ile1266=)
c.3795C>T (p.Ile1265=)
c.3813C>T (p.Ile1271=)
c.-6+5659G>A (n.-6+5659G>A)
n.490C>T
c.3993C>T (p.Ile1331=)
c.3927C>T (p.Ile1309=)
c.3987C>T (p.Ile1329=)
c.3933C>T (p.Ile1311=)
c.3858C>T (p.Ile1286=)
c.3453C>T (p.Ile1151=)
c.2811C>T (p.Ile937=)
c.321C>T (p.Ile107=)
n.4236C>T
dbSNP
10g.71732070A>CCA377156054C10orf105,CDH23c.3799A>C (p.Thr1267Pro)
c.3796A>C (p.Thr1266Pro)
c.3814A>C (p.Thr1272Pro)
c.-6+5658T>G (n.-6+5658T>G)
n.491A>C
c.3994A>C (p.Thr1332Pro)
c.3928A>C (p.Thr1310Pro)
c.3988A>C (p.Thr1330Pro)
c.3934A>C (p.Thr1312Pro)
c.3859A>C (p.Thr1287Pro)
c.3454A>C (p.Thr1152Pro)
c.2812A>C (p.Thr938Pro)
c.322A>C (p.Thr108Pro)
n.4237A>C
10g.71732070A>GCA377156050C10orf105,CDH23c.3799A>G (p.Thr1267Ala)
c.3796A>G (p.Thr1266Ala)
c.3814A>G (p.Thr1272Ala)
c.-6+5658T>C (n.-6+5658T>C)
n.491A>G
c.3994A>G (p.Thr1332Ala)
c.3928A>G (p.Thr1310Ala)
c.3988A>G (p.Thr1330Ala)
c.3934A>G (p.Thr1312Ala)
c.3859A>G (p.Thr1287Ala)
c.3454A>G (p.Thr1152Ala)
c.2812A>G (p.Thr938Ala)
c.322A>G (p.Thr108Ala)
n.4237A>G
10g.71732070A>TCA377156048C10orf105,CDH23c.3799A>T (p.Thr1267Ser)
c.3796A>T (p.Thr1266Ser)
c.3814A>T (p.Thr1272Ser)
c.-6+5658T>A (n.-6+5658T>A)
n.491A>T
c.3994A>T (p.Thr1332Ser)
c.3928A>T (p.Thr1310Ser)
c.3988A>T (p.Thr1330Ser)
c.3934A>T (p.Thr1312Ser)
c.3859A>T (p.Thr1287Ser)
c.3454A>T (p.Thr1152Ser)
c.2812A>T (p.Thr938Ser)
c.322A>T (p.Thr108Ser)
n.4237A>T
10g.71732073_71732082delCA2609568446C10orf105,CDH23c.3802_3811del (p.Val1268TrpfsTer10)
c.3799_3808del (p.Val1267TrpfsTer10)
c.3817_3826del (p.Val1273TrpfsTer10)
c.-6+5649_-6+5658del (n.-6+5649_-6+5658del)
n.494_503del
c.3997_4006del (p.Val1333TrpfsTer10)
c.3931_3940del (p.Val1311TrpfsTer10)
c.3991_4000del (p.Val1331TrpfsTer10)
c.3937_3946del (p.Val1313TrpfsTer10)
c.3862_3871del (p.Val1288TrpfsTer10)
c.3457_3466del (p.Val1153TrpfsTer10)
c.2815_2824del (p.Val939TrpfsTer10)
c.325_334del (p.Val109TrpfsTer10)
n.4240_4249del
gnomAD v4
10g.71732071C>ACA377156061C10orf105,CDH23c.3800C>A (p.Thr1267Asn)
c.3797C>A (p.Thr1266Asn)
c.3815C>A (p.Thr1272Asn)
c.-6+5657G>T (n.-6+5657G>T)
n.492C>A
c.3995C>A (p.Thr1332Asn)
c.3929C>A (p.Thr1310Asn)
c.3989C>A (p.Thr1330Asn)
c.3935C>A (p.Thr1312Asn)
c.3860C>A (p.Thr1287Asn)
c.3455C>A (p.Thr1152Asn)
c.2813C>A (p.Thr938Asn)
c.323C>A (p.Thr108Asn)
n.4238C>A
dbSNP
10g.71732071C>GCA377156057C10orf105,CDH23c.3800C>G (p.Thr1267Ser)
c.3797C>G (p.Thr1266Ser)
c.3815C>G (p.Thr1272Ser)
c.-6+5657G>C (n.-6+5657G>C)
n.492C>G
c.3995C>G (p.Thr1332Ser)
c.3929C>G (p.Thr1310Ser)
c.3989C>G (p.Thr1330Ser)
c.3935C>G (p.Thr1312Ser)
c.3860C>G (p.Thr1287Ser)
c.3455C>G (p.Thr1152Ser)
c.2813C>G (p.Thr938Ser)
c.323C>G (p.Thr108Ser)
n.4238C>G
10g.71732071C>TCA377156060C10orf105,CDH23c.3800C>T (p.Thr1267Ile)
c.3797C>T (p.Thr1266Ile)
c.3815C>T (p.Thr1272Ile)
c.-6+5657G>A (n.-6+5657G>A)
n.492C>T
c.3995C>T (p.Thr1332Ile)
c.3929C>T (p.Thr1310Ile)
c.3989C>T (p.Thr1330Ile)
c.3935C>T (p.Thr1312Ile)
c.3860C>T (p.Thr1287Ile)
c.3455C>T (p.Thr1152Ile)
c.2813C>T (p.Thr938Ile)
c.323C>T (p.Thr108Ile)
n.4238C>T
10g.71732072C>ACA470283717C10orf105,CDH23c.3801C>A (p.Thr1267=)
c.3798C>A (p.Thr1266=)
c.3816C>A (p.Thr1272=)
c.-6+5656G>T (n.-6+5656G>T)
n.493C>A
c.3996C>A (p.Thr1332=)
c.3930C>A (p.Thr1310=)
c.3990C>A (p.Thr1330=)
c.3936C>A (p.Thr1312=)
c.3861C>A (p.Thr1287=)
c.3456C>A (p.Thr1152=)
c.2814C>A (p.Thr938=)
c.324C>A (p.Thr108=)
n.4239C>A
10g.71732072C=CA1918849663C10orf105,CDH23c.3801C= (p.Thr1267=)
c.3798C= (p.Thr1266=)
c.3816C= (p.Thr1272=)
c.-6+5656G= (n.-6+5656G=)
n.493C=
c.3996C= (p.Thr1332=)
c.3930C= (p.Thr1310=)
c.3990C= (p.Thr1330=)
c.3936C= (p.Thr1312=)
c.3861C= (p.Thr1287=)
c.3456C= (p.Thr1152=)
c.2814C= (p.Thr938=)
c.324C= (p.Thr108=)
n.4239C=
10g.71732072C>GCA470283718C10orf105,CDH23c.3801C>G (p.Thr1267=)
c.3798C>G (p.Thr1266=)
c.3816C>G (p.Thr1272=)
c.-6+5656G>C (n.-6+5656G>C)
n.493C>G
c.3996C>G (p.Thr1332=)
c.3930C>G (p.Thr1310=)
c.3990C>G (p.Thr1330=)
c.3936C>G (p.Thr1312=)
c.3861C>G (p.Thr1287=)
c.3456C>G (p.Thr1152=)
c.2814C>G (p.Thr938=)
c.324C>G (p.Thr108=)
n.4239C>G
ClinVar
10g.71732072C>TCA137393C10orf105,CDH23c.3801C>T (p.Thr1267=)
c.3798C>T (p.Thr1266=)
c.3816C>T (p.Thr1272=)
c.-6+5656G>A (n.-6+5656G>A)
n.493C>T
c.3996C>T (p.Thr1332=)
c.3930C>T (p.Thr1310=)
c.3990C>T (p.Thr1330=)
c.3936C>T (p.Thr1312=)
c.3861C>T (p.Thr1287=)
c.3456C>T (p.Thr1152=)
c.2814C>T (p.Thr938=)
c.324C>T (p.Thr108=)
n.4239C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732073G>ACA244165C10orf105,CDH23c.3802G>A (p.Val1268Met)
c.3799G>A (p.Val1267Met)
c.3817G>A (p.Val1273Met)
c.-6+5655C>T (n.-6+5655C>T)
n.494G>A
c.3997G>A (p.Val1333Met)
c.3931G>A (p.Val1311Met)
c.3991G>A (p.Val1331Met)
c.3937G>A (p.Val1313Met)
c.3862G>A (p.Val1288Met)
c.3457G>A (p.Val1153Met)
c.2815G>A (p.Val939Met)
c.325G>A (p.Val109Met)
n.4240G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71732073G>CCA377156071C10orf105,CDH23c.3802G>C (p.Val1268Leu)
c.3799G>C (p.Val1267Leu)
c.3817G>C (p.Val1273Leu)
c.-6+5655C>G (n.-6+5655C>G)
n.494G>C
c.3997G>C (p.Val1333Leu)
c.3931G>C (p.Val1311Leu)
c.3991G>C (p.Val1331Leu)
c.3937G>C (p.Val1313Leu)
c.3862G>C (p.Val1288Leu)
c.3457G>C (p.Val1153Leu)
c.2815G>C (p.Val939Leu)
c.325G>C (p.Val109Leu)
n.4240G>C
10g.71732073G=CA1918849664C10orf105,CDH23c.3802G= (p.Val1268=)
c.3799G= (p.Val1267=)
c.3817G= (p.Val1273=)
c.-6+5655C= (n.-6+5655C=)
n.494G=
c.3997G= (p.Val1333=)
c.3931G= (p.Val1311=)
c.3991G= (p.Val1331=)
c.3937G= (p.Val1313=)
c.3862G= (p.Val1288=)
c.3457G= (p.Val1153=)
c.2815G= (p.Val939=)
c.325G= (p.Val109=)
n.4240G=
10g.71732073G>TCA377156073C10orf105,CDH23c.3802G>T (p.Val1268Leu)
c.3799G>T (p.Val1267Leu)
c.3817G>T (p.Val1273Leu)
c.-6+5655C>A (n.-6+5655C>A)
n.494G>T
c.3997G>T (p.Val1333Leu)
c.3931G>T (p.Val1311Leu)
c.3991G>T (p.Val1331Leu)
c.3937G>T (p.Val1313Leu)
c.3862G>T (p.Val1288Leu)
c.3457G>T (p.Val1153Leu)
c.2815G>T (p.Val939Leu)
c.325G>T (p.Val109Leu)
n.4240G>T
gnomAD v4
10g.71732073_71732076delCA2535181633C10orf105,CDH23c.3802_3805del (p.Val1268IlefsTer12)
c.3799_3802del (p.Val1267IlefsTer12)
c.3817_3820del (p.Val1273IlefsTer12)
c.-6+5652_-6+5655del (n.-6+5652_-6+5655del)
n.494_497del
c.3997_4000del (p.Val1333IlefsTer12)
c.3931_3934del (p.Val1311IlefsTer12)
c.3991_3994del (p.Val1331IlefsTer12)
c.3937_3940del (p.Val1313IlefsTer12)
c.3862_3865del (p.Val1288IlefsTer12)
c.3457_3460del (p.Val1153IlefsTer12)
c.2815_2818del (p.Val939IlefsTer12)
c.325_328del (p.Val109IlefsTer12)
n.4240_4243del
10g.71732074T>ACA377156075C10orf105,CDH23c.3803T>A (p.Val1268Glu)
c.3800T>A (p.Val1267Glu)
c.3818T>A (p.Val1273Glu)
c.-6+5654A>T (n.-6+5654A>T)
n.495T>A
c.3998T>A (p.Val1333Glu)
c.3932T>A (p.Val1311Glu)
c.3992T>A (p.Val1331Glu)
c.3938T>A (p.Val1313Glu)
c.3863T>A (p.Val1288Glu)
c.3458T>A (p.Val1153Glu)
c.2816T>A (p.Val939Glu)
c.326T>A (p.Val109Glu)
n.4241T>A
10g.71732074T>CCA377156080C10orf105,CDH23c.3803T>C (p.Val1268Ala)
c.3800T>C (p.Val1267Ala)
c.3818T>C (p.Val1273Ala)
c.-6+5654A>G (n.-6+5654A>G)
n.495T>C
c.3998T>C (p.Val1333Ala)
c.3932T>C (p.Val1311Ala)
c.3992T>C (p.Val1331Ala)
c.3938T>C (p.Val1313Ala)
c.3863T>C (p.Val1288Ala)
c.3458T>C (p.Val1153Ala)
c.2816T>C (p.Val939Ala)
c.326T>C (p.Val109Ala)
n.4241T>C
10g.71732074T>GCA377156083C10orf105,CDH23c.3803T>G (p.Val1268Gly)
c.3800T>G (p.Val1267Gly)
c.3818T>G (p.Val1273Gly)
c.-6+5654A>C (n.-6+5654A>C)
n.495T>G
c.3998T>G (p.Val1333Gly)
c.3932T>G (p.Val1311Gly)
c.3992T>G (p.Val1331Gly)
c.3938T>G (p.Val1313Gly)
c.3863T>G (p.Val1288Gly)
c.3458T>G (p.Val1153Gly)
c.2816T>G (p.Val939Gly)
c.326T>G (p.Val109Gly)
n.4241T>G
10g.71732075G>ACA5544850C10orf105,CDH23c.3804G>A (p.Val1268=)
c.3801G>A (p.Val1267=)
c.3819G>A (p.Val1273=)
c.-6+5653C>T (n.-6+5653C>T)
n.496G>A
c.3999G>A (p.Val1333=)
c.3933G>A (p.Val1311=)
c.3993G>A (p.Val1331=)
c.3939G>A (p.Val1313=)
c.3864G>A (p.Val1288=)
c.3459G>A (p.Val1153=)
c.2817G>A (p.Val939=)
c.327G>A (p.Val109=)
n.4242G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.71732075G>CCA470283719C10orf105,CDH23c.3804G>C (p.Val1268=)
c.3801G>C (p.Val1267=)
c.3819G>C (p.Val1273=)
c.-6+5653C>G (n.-6+5653C>G)
n.496G>C
c.3999G>C (p.Val1333=)
c.3933G>C (p.Val1311=)
c.3993G>C (p.Val1331=)
c.3939G>C (p.Val1313=)
c.3864G>C (p.Val1288=)
c.3459G>C (p.Val1153=)
c.2817G>C (p.Val939=)
c.327G>C (p.Val109=)
n.4242G>C
10g.71732075G=CA1918849665C10orf105,CDH23c.3804G= (p.Val1268=)
c.3801G= (p.Val1267=)
c.3819G= (p.Val1273=)
c.-6+5653C= (n.-6+5653C=)
n.496G=
c.3999G= (p.Val1333=)
c.3933G= (p.Val1311=)
c.3993G= (p.Val1331=)
c.3939G= (p.Val1313=)
c.3864G= (p.Val1288=)
c.3459G= (p.Val1153=)
c.2817G= (p.Val939=)
c.327G= (p.Val109=)
n.4242G=
10g.71732075G>TCA470283720C10orf105,CDH23c.3804G>T (p.Val1268=)
c.3801G>T (p.Val1267=)
c.3819G>T (p.Val1273=)
c.-6+5653C>A (n.-6+5653C>A)
n.496G>T
c.3999G>T (p.Val1333=)
c.3933G>T (p.Val1311=)
c.3993G>T (p.Val1331=)
c.3939G>T (p.Val1313=)
c.3864G>T (p.Val1288=)
c.3459G>T (p.Val1153=)
c.2817G>T (p.Val939=)
c.327G>T (p.Val109=)
n.4242G>T
10g.71732076A>CCA377156084C10orf105,CDH23c.3805A>C (p.Asn1269His)
c.3802A>C (p.Asn1268His)
c.3820A>C (p.Asn1274His)
c.-6+5652T>G (n.-6+5652T>G)
n.497A>C
c.4000A>C (p.Asn1334His)
c.3934A>C (p.Asn1312His)
c.3994A>C (p.Asn1332His)
c.3940A>C (p.Asn1314His)
c.3865A>C (p.Asn1289His)
c.3460A>C (p.Asn1154His)
c.2818A>C (p.Asn940His)
c.328A>C (p.Asn110His)
n.4243A>C
10g.71732076A>GCA377156085C10orf105,CDH23c.3805A>G (p.Asn1269Asp)
c.3802A>G (p.Asn1268Asp)
c.3820A>G (p.Asn1274Asp)
c.-6+5652T>C (n.-6+5652T>C)
n.497A>G
c.4000A>G (p.Asn1334Asp)
c.3934A>G (p.Asn1312Asp)
c.3994A>G (p.Asn1332Asp)
c.3940A>G (p.Asn1314Asp)
c.3865A>G (p.Asn1289Asp)
c.3460A>G (p.Asn1154Asp)
c.2818A>G (p.Asn940Asp)
c.328A>G (p.Asn110Asp)
n.4243A>G
10g.71732076A>TCA377156086C10orf105,CDH23c.3805A>T (p.Asn1269Tyr)
c.3802A>T (p.Asn1268Tyr)
c.3820A>T (p.Asn1274Tyr)
c.-6+5652T>A (n.-6+5652T>A)
n.497A>T
c.4000A>T (p.Asn1334Tyr)
c.3934A>T (p.Asn1312Tyr)
c.3994A>T (p.Asn1332Tyr)
c.3940A>T (p.Asn1314Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3460A>T (p.Asn1154Tyr)
c.2818A>T (p.Asn940Tyr)
c.328A>T (p.Asn110Tyr)
n.4243A>T
10g.71732077A>CCA377156091C10orf105,CDH23c.3806A>C (p.Asn1269Thr)
c.3803A>C (p.Asn1268Thr)
c.3821A>C (p.Asn1274Thr)
c.-6+5651T>G (n.-6+5651T>G)
n.498A>C
c.4001A>C (p.Asn1334Thr)
c.3935A>C (p.Asn1312Thr)
c.3995A>C (p.Asn1332Thr)
c.3941A>C (p.Asn1314Thr)
c.3866A>C (p.Asn1289Thr)
c.3461A>C (p.Asn1154Thr)
c.2819A>C (p.Asn940Thr)
c.329A>C (p.Asn110Thr)
n.4244A>C
10g.71732077A>GCA377156088C10orf105,CDH23c.3806A>G (p.Asn1269Ser)
c.3803A>G (p.Asn1268Ser)
c.3821A>G (p.Asn1274Ser)
c.-6+5651T>C (n.-6+5651T>C)
n.498A>G
c.4001A>G (p.Asn1334Ser)
c.3935A>G (p.Asn1312Ser)
c.3995A>G (p.Asn1332Ser)
c.3941A>G (p.Asn1314Ser)
c.3866A>G (p.Asn1289Ser)
c.3461A>G (p.Asn1154Ser)
c.2819A>G (p.Asn940Ser)
c.329A>G (p.Asn110Ser)
n.4244A>G
gnomAD v4
10g.71732077A>TCA377156090C10orf105,CDH23c.3806A>T (p.Asn1269Ile)
c.3803A>T (p.Asn1268Ile)
c.3821A>T (p.Asn1274Ile)
c.-6+5651T>A (n.-6+5651T>A)
n.498A>T
c.4001A>T (p.Asn1334Ile)
c.3935A>T (p.Asn1312Ile)
c.3995A>T (p.Asn1332Ile)
c.3941A>T (p.Asn1314Ile)
c.3866A>T (p.Asn1289Ile)
c.3461A>T (p.Asn1154Ile)
c.2819A>T (p.Asn940Ile)
c.329A>T (p.Asn110Ile)
n.4244A>T
10g.71732078T>ACA377156093C10orf105,CDH23c.3807T>A (p.Asn1269Lys)
c.3804T>A (p.Asn1268Lys)
c.3822T>A (p.Asn1274Lys)
c.-6+5650A>T (n.-6+5650A>T)
n.499T>A
c.4002T>A (p.Asn1334Lys)
c.3936T>A (p.Asn1312Lys)
c.3996T>A (p.Asn1332Lys)
c.3942T>A (p.Asn1314Lys)
c.3867T>A (p.Asn1289Lys)
c.3462T>A (p.Asn1154Lys)
c.2820T>A (p.Asn940Lys)
c.330T>A (p.Asn110Lys)
n.4245T>A
10g.71732078T>CCA470283722C10orf105,CDH23c.3807T>C (p.Asn1269=)
c.3804T>C (p.Asn1268=)
c.3822T>C (p.Asn1274=)
c.-6+5650A>G (n.-6+5650A>G)
n.499T>C
c.4002T>C (p.Asn1334=)
c.3936T>C (p.Asn1312=)
c.3996T>C (p.Asn1332=)
c.3942T>C (p.Asn1314=)
c.3867T>C (p.Asn1289=)
c.3462T>C (p.Asn1154=)
c.2820T>C (p.Asn940=)
c.330T>C (p.Asn110=)
n.4245T>C
10g.71732078T>GCA377156095C10orf105,CDH23c.3807T>G (p.Asn1269Lys)
c.3804T>G (p.Asn1268Lys)
c.3822T>G (p.Asn1274Lys)
c.-6+5650A>C (n.-6+5650A>C)
n.499T>G
c.4002T>G (p.Asn1334Lys)
c.3936T>G (p.Asn1312Lys)
c.3996T>G (p.Asn1332Lys)
c.3942T>G (p.Asn1314Lys)
c.3867T>G (p.Asn1289Lys)
c.3462T>G (p.Asn1154Lys)
c.2820T>G (p.Asn940Lys)
c.330T>G (p.Asn110Lys)
n.4245T>G
10g.71732079T>ACA377156097C10orf105,CDH23c.3808T>A (p.Tyr1270Asn)
c.3805T>A (p.Tyr1269Asn)
c.3823T>A (p.Tyr1275Asn)
c.-6+5649A>T (n.-6+5649A>T)
n.500T>A
c.4003T>A (p.Tyr1335Asn)
c.3937T>A (p.Tyr1313Asn)
c.3997T>A (p.Tyr1333Asn)
c.3943T>A (p.Tyr1315Asn)
c.3868T>A (p.Tyr1290Asn)
c.3463T>A (p.Tyr1155Asn)
c.2821T>A (p.Tyr941Asn)
c.331T>A (p.Tyr111Asn)
n.4246T>A
10g.71732079T>CCA377156100C10orf105,CDH23c.3808T>C (p.Tyr1270His)
c.3805T>C (p.Tyr1269His)
c.3823T>C (p.Tyr1275His)
c.-6+5649A>G (n.-6+5649A>G)
n.500T>C
c.4003T>C (p.Tyr1335His)
c.3937T>C (p.Tyr1313His)
c.3997T>C (p.Tyr1333His)
c.3943T>C (p.Tyr1315His)
c.3868T>C (p.Tyr1290His)
c.3463T>C (p.Tyr1155His)
c.2821T>C (p.Tyr941His)
c.331T>C (p.Tyr111His)
n.4246T>C
10g.71732079T>GCA377156102C10orf105,CDH23c.3808T>G (p.Tyr1270Asp)
c.3805T>G (p.Tyr1269Asp)
c.3823T>G (p.Tyr1275Asp)
c.-6+5649A>C (n.-6+5649A>C)
n.500T>G
c.4003T>G (p.Tyr1335Asp)
c.3937T>G (p.Tyr1313Asp)
c.3997T>G (p.Tyr1333Asp)
c.3943T>G (p.Tyr1315Asp)
c.3868T>G (p.Tyr1290Asp)
c.3463T>G (p.Tyr1155Asp)
c.2821T>G (p.Tyr941Asp)
c.331T>G (p.Tyr111Asp)
n.4246T>G
10g.71732079_71732080insGACTCA2520828674C10orf105,CDH23c.3808_3809insGACT (p.Tyr1270Ter)
c.3805_3806insGACT (p.Tyr1269Ter)
c.3823_3824insGACT (p.Tyr1275Ter)
c.-6+5649_-6+5650insGTCA (n.-6+5649_-6+5650insGTCA)
n.500_501insGACT
c.4003_4004insGACT (p.Tyr1335Ter)
c.3937_3938insGACT (p.Tyr1313Ter)
c.3997_3998insGACT (p.Tyr1333Ter)
c.3943_3944insGACT (p.Tyr1315Ter)
c.3868_3869insGACT (p.Tyr1290Ter)
c.3463_3464insGACT (p.Tyr1155Ter)
c.2821_2822insGACT (p.Tyr941Ter)
c.331_332insGACT (p.Tyr111Ter)
n.4246_4247insGACT
10g.71732080A>CCA377156109C10orf105,CDH23c.3809A>C (p.Tyr1270Ser)
c.3806A>C (p.Tyr1269Ser)
c.3824A>C (p.Tyr1275Ser)
c.-6+5648T>G (n.-6+5648T>G)
n.501A>C
c.4004A>C (p.Tyr1335Ser)
c.3938A>C (p.Tyr1313Ser)
c.3998A>C (p.Tyr1333Ser)
c.3944A>C (p.Tyr1315Ser)
c.3869A>C (p.Tyr1290Ser)
c.3464A>C (p.Tyr1155Ser)
c.2822A>C (p.Tyr941Ser)
c.332A>C (p.Tyr111Ser)
n.4247A>C
10g.71732080A>GCA377156111C10orf105,CDH23c.3809A>G (p.Tyr1270Cys)
c.3806A>G (p.Tyr1269Cys)
c.3824A>G (p.Tyr1275Cys)
c.-6+5648T>C (n.-6+5648T>C)
n.501A>G
c.4004A>G (p.Tyr1335Cys)
c.3938A>G (p.Tyr1313Cys)
c.3998A>G (p.Tyr1333Cys)
c.3944A>G (p.Tyr1315Cys)
c.3869A>G (p.Tyr1290Cys)
c.3464A>G (p.Tyr1155Cys)
c.2822A>G (p.Tyr941Cys)
c.332A>G (p.Tyr111Cys)
n.4247A>G
10g.71732080A>TCA377156127C10orf105,CDH23c.3809A>T (p.Tyr1270Phe)
c.3806A>T (p.Tyr1269Phe)
c.3824A>T (p.Tyr1275Phe)
c.-6+5648T>A (n.-6+5648T>A)
n.501A>T
c.4004A>T (p.Tyr1335Phe)
c.3938A>T (p.Tyr1313Phe)
c.3998A>T (p.Tyr1333Phe)
c.3944A>T (p.Tyr1315Phe)
c.3869A>T (p.Tyr1290Phe)
c.3464A>T (p.Tyr1155Phe)
c.2822A>T (p.Tyr941Phe)
c.332A>T (p.Tyr111Phe)
n.4247A>T
gnomAD v4
10g.71732081C>ACA377156129C10orf105,CDH23c.3810C>A (p.Tyr1270Ter)
c.3807C>A (p.Tyr1269Ter)
c.3825C>A (p.Tyr1275Ter)
c.-6+5647G>T (n.-6+5647G>T)
n.502C>A
c.4005C>A (p.Tyr1335Ter)
c.3939C>A (p.Tyr1313Ter)
c.3999C>A (p.Tyr1333Ter)
c.3945C>A (p.Tyr1315Ter)
c.3870C>A (p.Tyr1290Ter)
c.3465C>A (p.Tyr1155Ter)
c.2823C>A (p.Tyr941Ter)
c.333C>A (p.Tyr111Ter)
n.4248C>A
10g.71732081C>GCA377156131C10orf105,CDH23c.3810C>G (p.Tyr1270Ter)
c.3807C>G (p.Tyr1269Ter)
c.3825C>G (p.Tyr1275Ter)
c.-6+5647G>C (n.-6+5647G>C)
n.502C>G
c.4005C>G (p.Tyr1335Ter)
c.3939C>G (p.Tyr1313Ter)
c.3999C>G (p.Tyr1333Ter)
c.3945C>G (p.Tyr1315Ter)
c.3870C>G (p.Tyr1290Ter)
c.3465C>G (p.Tyr1155Ter)
c.2823C>G (p.Tyr941Ter)
c.333C>G (p.Tyr111Ter)
n.4248C>G
10g.71732081C>TCA470283726C10orf105,CDH23c.3810C>T (p.Tyr1270=)
c.3807C>T (p.Tyr1269=)
c.3825C>T (p.Tyr1275=)
c.-6+5647G>A (n.-6+5647G>A)
n.502C>T
c.4005C>T (p.Tyr1335=)
c.3939C>T (p.Tyr1313=)
c.3999C>T (p.Tyr1333=)
c.3945C>T (p.Tyr1315=)
c.3870C>T (p.Tyr1290=)
c.3465C>T (p.Tyr1155=)
c.2823C>T (p.Tyr941=)
c.333C>T (p.Tyr111=)
n.4248C>T
10g.71732082C>ACA377156135C10orf105,CDH23c.3811C>A (p.Leu1271Met)
c.3808C>A (p.Leu1270Met)
c.3826C>A (p.Leu1276Met)
c.-6+5646G>T (n.-6+5646G>T)
n.503C>A
c.4006C>A (p.Leu1336Met)
c.3940C>A (p.Leu1314Met)
c.4000C>A (p.Leu1334Met)
c.3946C>A (p.Leu1316Met)
c.3871C>A (p.Leu1291Met)
c.3466C>A (p.Leu1156Met)
c.2824C>A (p.Leu942Met)
c.334C>A (p.Leu112Met)
n.4249C>A
10g.71732082C>GCA377156136C10orf105,CDH23c.3811C>G (p.Leu1271Val)
c.3808C>G (p.Leu1270Val)
c.3826C>G (p.Leu1276Val)
c.-6+5646G>C (n.-6+5646G>C)
n.503C>G
c.4006C>G (p.Leu1336Val)
c.3940C>G (p.Leu1314Val)
c.4000C>G (p.Leu1334Val)
c.3946C>G (p.Leu1316Val)
c.3871C>G (p.Leu1291Val)
c.3466C>G (p.Leu1156Val)
c.2824C>G (p.Leu942Val)
c.334C>G (p.Leu112Val)
n.4249C>G
10g.71732082C>TCA470283727C10orf105,CDH23c.3811C>T (p.Leu1271=)
c.3808C>T (p.Leu1270=)
c.3826C>T (p.Leu1276=)
c.-6+5646G>A (n.-6+5646G>A)
n.503C>T
c.4006C>T (p.Leu1336=)
c.3940C>T (p.Leu1314=)
c.4000C>T (p.Leu1334=)
c.3946C>T (p.Leu1316=)
c.3871C>T (p.Leu1291=)
c.3466C>T (p.Leu1156=)
c.2824C>T (p.Leu942=)
c.334C>T (p.Leu112=)
n.4249C>T
gnomAD v4
10g.71732083T>ACA377156138C10orf105,CDH23c.3812T>A (p.Leu1271Gln)
c.3809T>A (p.Leu1270Gln)
c.3827T>A (p.Leu1276Gln)
c.-6+5645A>T (n.-6+5645A>T)
n.504T>A
c.4007T>A (p.Leu1336Gln)
c.3941T>A (p.Leu1314Gln)
c.4001T>A (p.Leu1334Gln)
c.3947T>A (p.Leu1316Gln)
c.3872T>A (p.Leu1291Gln)
c.3467T>A (p.Leu1156Gln)
c.2825T>A (p.Leu942Gln)
c.335T>A (p.Leu112Gln)
n.4250T>A
10g.71732083T>CCA377156139C10orf105,CDH23c.3812T>C (p.Leu1271Pro)
c.3809T>C (p.Leu1270Pro)
c.3827T>C (p.Leu1276Pro)
c.-6+5645A>G (n.-6+5645A>G)
n.504T>C
c.4007T>C (p.Leu1336Pro)
c.3941T>C (p.Leu1314Pro)
c.4001T>C (p.Leu1334Pro)
c.3947T>C (p.Leu1316Pro)
c.3872T>C (p.Leu1291Pro)
c.3467T>C (p.Leu1156Pro)
c.2825T>C (p.Leu942Pro)
c.335T>C (p.Leu112Pro)
n.4250T>C
10g.71732083T>GCA377156137C10orf105,CDH23c.3812T>G (p.Leu1271Arg)
c.3809T>G (p.Leu1270Arg)
c.3827T>G (p.Leu1276Arg)
c.-6+5645A>C (n.-6+5645A>C)
n.504T>G
c.4007T>G (p.Leu1336Arg)
c.3941T>G (p.Leu1314Arg)
c.4001T>G (p.Leu1334Arg)
c.3947T>G (p.Leu1316Arg)
c.3872T>G (p.Leu1291Arg)
c.3467T>G (p.Leu1156Arg)
c.2825T>G (p.Leu942Arg)
c.335T>G (p.Leu112Arg)
n.4250T>G
10g.71732084G>ACA470283728C10orf105,CDH23c.3813G>A (p.Leu1271=)
c.3810G>A (p.Leu1270=)
c.3828G>A (p.Leu1276=)
c.-6+5644C>T (n.-6+5644C>T)
n.505G>A
c.4008G>A (p.Leu1336=)
c.3942G>A (p.Leu1314=)
c.4002G>A (p.Leu1334=)
c.3948G>A (p.Leu1316=)
c.3873G>A (p.Leu1291=)
c.3468G>A (p.Leu1156=)
c.2826G>A (p.Leu942=)
c.336G>A (p.Leu112=)
n.4251G>A
10g.71732084G>CCA470283729C10orf105,CDH23c.3813G>C (p.Leu1271=)
c.3810G>C (p.Leu1270=)
c.3828G>C (p.Leu1276=)
c.-6+5644C>G (n.-6+5644C>G)
n.505G>C
c.4008G>C (p.Leu1336=)
c.3942G>C (p.Leu1314=)
c.4002G>C (p.Leu1334=)
c.3948G>C (p.Leu1316=)
c.3873G>C (p.Leu1291=)
c.3468G>C (p.Leu1156=)
c.2826G>C (p.Leu942=)
c.336G>C (p.Leu112=)
n.4251G>C
10g.71732084G>TCA470283730C10orf105,CDH23c.3813G>T (p.Leu1271=)
c.3810G>T (p.Leu1270=)
c.3828G>T (p.Leu1276=)
c.-6+5644C>A (n.-6+5644C>A)
n.505G>T
c.4008G>T (p.Leu1336=)
c.3942G>T (p.Leu1314=)
c.4002G>T (p.Leu1334=)
c.3948G>T (p.Leu1316=)
c.3873G>T (p.Leu1291=)
c.3468G>T (p.Leu1156=)
c.2826G>T (p.Leu942=)
c.336G>T (p.Leu112=)
n.4251G>T
10g.71732085G>ACA377156142C10orf105,CDH23c.3814G>A (p.Asp1272Asn)
c.3811G>A (p.Asp1271Asn)
c.3829G>A (p.Asp1277Asn)
c.-6+5643C>T (n.-6+5643C>T)
n.506G>A
c.4009G>A (p.Asp1337Asn)
c.3943G>A (p.Asp1315Asn)
c.4003G>A (p.Asp1335Asn)
c.3949G>A (p.Asp1317Asn)
c.3874G>A (p.Asp1292Asn)
c.3469G>A (p.Asp1157Asn)
c.2827G>A (p.Asp943Asn)
c.337G>A (p.Asp113Asn)
n.4252G>A
gnomAD v4 COSMIC
10g.71732085G>CCA377156147C10orf105,CDH23c.3814G>C (p.Asp1272His)
c.3811G>C (p.Asp1271His)
c.3829G>C (p.Asp1277His)
c.-6+5643C>G (n.-6+5643C>G)
n.506G>C
c.4009G>C (p.Asp1337His)
c.3943G>C (p.Asp1315His)
c.4003G>C (p.Asp1335His)
c.3949G>C (p.Asp1317His)
c.3874G>C (p.Asp1292His)
c.3469G>C (p.Asp1157His)
c.2827G>C (p.Asp943His)
c.337G>C (p.Asp113His)
n.4252G>C
dbSNP
10g.71732085G>TCA377156145C10orf105,CDH23c.3814G>T (p.Asp1272Tyr)
c.3811G>T (p.Asp1271Tyr)
c.3829G>T (p.Asp1277Tyr)
c.-6+5643C>A (n.-6+5643C>A)
n.506G>T
c.4009G>T (p.Asp1337Tyr)
c.3943G>T (p.Asp1315Tyr)
c.4003G>T (p.Asp1335Tyr)
c.3949G>T (p.Asp1317Tyr)
c.3874G>T (p.Asp1292Tyr)
c.3469G>T (p.Asp1157Tyr)
c.2827G>T (p.Asp943Tyr)
c.337G>T (p.Asp113Tyr)
n.4252G>T
10g.71732086A>CCA377156150C10orf105,CDH23c.3815A>C (p.Asp1272Ala)
c.3812A>C (p.Asp1271Ala)
c.3830A>C (p.Asp1277Ala)
c.-6+5642T>G (n.-6+5642T>G)
n.507A>C
c.4010A>C (p.Asp1337Ala)
c.3944A>C (p.Asp1315Ala)
c.4004A>C (p.Asp1335Ala)
c.3950A>C (p.Asp1317Ala)
c.3875A>C (p.Asp1292Ala)
c.3470A>C (p.Asp1157Ala)
c.2828A>C (p.Asp943Ala)
c.338A>C (p.Asp113Ala)
n.4253A>C
10g.71732086A>GCA377156153C10orf105,CDH23c.3815A>G (p.Asp1272Gly)
c.3812A>G (p.Asp1271Gly)
c.3830A>G (p.Asp1277Gly)
c.-6+5642T>C (n.-6+5642T>C)
n.507A>G
c.4010A>G (p.Asp1337Gly)
c.3944A>G (p.Asp1315Gly)
c.4004A>G (p.Asp1335Gly)
c.3950A>G (p.Asp1317Gly)
c.3875A>G (p.Asp1292Gly)
c.3470A>G (p.Asp1157Gly)
c.2828A>G (p.Asp943Gly)
c.338A>G (p.Asp113Gly)
n.4253A>G
10g.71732086A>TCA377156156C10orf105,CDH23c.3815A>T (p.Asp1272Val)
c.3812A>T (p.Asp1271Val)
c.3830A>T (p.Asp1277Val)
c.-6+5642T>A (n.-6+5642T>A)
n.507A>T
c.4010A>T (p.Asp1337Val)
c.3944A>T (p.Asp1315Val)
c.4004A>T (p.Asp1335Val)
c.3950A>T (p.Asp1317Val)
c.3875A>T (p.Asp1292Val)
c.3470A>T (p.Asp1157Val)
c.2828A>T (p.Asp943Val)
c.338A>T (p.Asp113Val)
n.4253A>T
10g.71732087C>ACA377156160C10orf105,CDH23c.3816C>A (p.Asp1272Glu)
c.3813C>A (p.Asp1271Glu)
c.3831C>A (p.Asp1277Glu)
c.-6+5641G>T (n.-6+5641G>T)
n.508C>A
c.4011C>A (p.Asp1337Glu)
c.3945C>A (p.Asp1315Glu)
c.4005C>A (p.Asp1335Glu)
c.3951C>A (p.Asp1317Glu)
c.3876C>A (p.Asp1292Glu)
c.3471C>A (p.Asp1157Glu)
c.2829C>A (p.Asp943Glu)
c.339C>A (p.Asp113Glu)
n.4254C>A
10g.71732087C>GCA377156163C10orf105,CDH23c.3816C>G (p.Asp1272Glu)
c.3813C>G (p.Asp1271Glu)
c.3831C>G (p.Asp1277Glu)
c.-6+5641G>C (n.-6+5641G>C)
n.508C>G
c.4011C>G (p.Asp1337Glu)
c.3945C>G (p.Asp1315Glu)
c.4005C>G (p.Asp1335Glu)
c.3951C>G (p.Asp1317Glu)
c.3876C>G (p.Asp1292Glu)
c.3471C>G (p.Asp1157Glu)
c.2829C>G (p.Asp943Glu)
c.339C>G (p.Asp113Glu)
n.4254C>G
10g.71732087C>TCA470283731C10orf105,CDH23c.3816C>T (p.Asp1272=)
c.3813C>T (p.Asp1271=)
c.3831C>T (p.Asp1277=)
c.-6+5641G>A (n.-6+5641G>A)
n.508C>T
c.4011C>T (p.Asp1337=)
c.3945C>T (p.Asp1315=)
c.4005C>T (p.Asp1335=)
c.3951C>T (p.Asp1317=)
c.3876C>T (p.Asp1292=)
c.3471C>T (p.Asp1157=)
c.2829C>T (p.Asp943=)
c.339C>T (p.Asp113=)
n.4254C>T
10g.71732088T>ACA377156166C10orf105,CDH23c.3817T>A (p.Tyr1273Asn)
c.3814T>A (p.Tyr1272Asn)
c.3832T>A (p.Tyr1278Asn)
c.-6+5640A>T (n.-6+5640A>T)
n.509T>A
c.4012T>A (p.Tyr1338Asn)
c.3946T>A (p.Tyr1316Asn)
c.4006T>A (p.Tyr1336Asn)
c.3952T>A (p.Tyr1318Asn)
c.3877T>A (p.Tyr1293Asn)
c.3472T>A (p.Tyr1158Asn)
c.2830T>A (p.Tyr944Asn)
c.340T>A (p.Tyr114Asn)
n.4255T>A
dbSNP
10g.71732088T>CCA377156167C10orf105,CDH23c.3817T>C (p.Tyr1273His)
c.3814T>C (p.Tyr1272His)
c.3832T>C (p.Tyr1278His)
c.-6+5640A>G (n.-6+5640A>G)
n.509T>C
c.4012T>C (p.Tyr1338His)
c.3946T>C (p.Tyr1316His)
c.4006T>C (p.Tyr1336His)
c.3952T>C (p.Tyr1318His)
c.3877T>C (p.Tyr1293His)
c.3472T>C (p.Tyr1158His)
c.2830T>C (p.Tyr944His)
c.340T>C (p.Tyr114His)
n.4255T>C
gnomAD v4
10g.71732088T>GCA377156168C10orf105,CDH23c.3817T>G (p.Tyr1273Asp)
c.3814T>G (p.Tyr1272Asp)
c.3832T>G (p.Tyr1278Asp)
c.-6+5640A>C (n.-6+5640A>C)
n.509T>G
c.4012T>G (p.Tyr1338Asp)
c.3946T>G (p.Tyr1316Asp)
c.4006T>G (p.Tyr1336Asp)
c.3952T>G (p.Tyr1318Asp)
c.3877T>G (p.Tyr1293Asp)
c.3472T>G (p.Tyr1158Asp)
c.2830T>G (p.Tyr944Asp)
c.340T>G (p.Tyr114Asp)
n.4255T>G
10g.71732089A>CCA377156169C10orf105,CDH23c.3818A>C (p.Tyr1273Ser)
c.3815A>C (p.Tyr1272Ser)
c.3833A>C (p.Tyr1278Ser)
c.-6+5639T>G (n.-6+5639T>G)
n.510A>C
c.4013A>C (p.Tyr1338Ser)
c.3947A>C (p.Tyr1316Ser)
c.4007A>C (p.Tyr1336Ser)
c.3953A>C (p.Tyr1318Ser)
c.3878A>C (p.Tyr1293Ser)
c.3473A>C (p.Tyr1158Ser)
c.2831A>C (p.Tyr944Ser)
c.341A>C (p.Tyr114Ser)
n.4256A>C
10g.71732089A>GCA377156170C10orf105,CDH23c.3818A>G (p.Tyr1273Cys)
c.3815A>G (p.Tyr1272Cys)
c.3833A>G (p.Tyr1278Cys)
c.-6+5639T>C (n.-6+5639T>C)
n.510A>G
c.4013A>G (p.Tyr1338Cys)
c.3947A>G (p.Tyr1316Cys)
c.4007A>G (p.Tyr1336Cys)
c.3953A>G (p.Tyr1318Cys)
c.3878A>G (p.Tyr1293Cys)
c.3473A>G (p.Tyr1158Cys)
c.2831A>G (p.Tyr944Cys)
c.341A>G (p.Tyr114Cys)
n.4256A>G
10g.71732089A>TCA377156173C10orf105,CDH23c.3818A>T (p.Tyr1273Phe)
c.3815A>T (p.Tyr1272Phe)
c.3833A>T (p.Tyr1278Phe)
c.-6+5639T>A (n.-6+5639T>A)
n.510A>T
c.4013A>T (p.Tyr1338Phe)
c.3947A>T (p.Tyr1316Phe)
c.4007A>T (p.Tyr1336Phe)
c.3953A>T (p.Tyr1318Phe)
c.3878A>T (p.Tyr1293Phe)
c.3473A>T (p.Tyr1158Phe)
c.2831A>T (p.Tyr944Phe)
c.341A>T (p.Tyr114Phe)
n.4256A>T
10g.71732090C>ACA377156185C10orf105,CDH23c.3819C>A (p.Tyr1273Ter)
c.3816C>A (p.Tyr1272Ter)
c.3834C>A (p.Tyr1278Ter)
c.-6+5638G>T (n.-6+5638G>T)
n.511C>A
c.4014C>A (p.Tyr1338Ter)
c.3948C>A (p.Tyr1316Ter)
c.4008C>A (p.Tyr1336Ter)
c.3954C>A (p.Tyr1318Ter)
c.3879C>A (p.Tyr1293Ter)
c.3474C>A (p.Tyr1158Ter)
c.2832C>A (p.Tyr944Ter)
c.342C>A (p.Tyr114Ter)
n.4257C>A
dbSNP
10g.71732090C=CA1918849666C10orf105,CDH23c.3819C= (p.Tyr1273=)
c.3816C= (p.Tyr1272=)
c.3834C= (p.Tyr1278=)
c.-6+5638G= (n.-6+5638G=)
n.511C=
c.4014C= (p.Tyr1338=)
c.3948C= (p.Tyr1316=)
c.4008C= (p.Tyr1336=)
c.3954C= (p.Tyr1318=)
c.3879C= (p.Tyr1293=)
c.3474C= (p.Tyr1158=)
c.2832C= (p.Tyr944=)
c.342C= (p.Tyr114=)
n.4257C=
10g.71732090C>GCA377156183C10orf105,CDH23c.3819C>G (p.Tyr1273Ter)
c.3816C>G (p.Tyr1272Ter)
c.3834C>G (p.Tyr1278Ter)
c.-6+5638G>C (n.-6+5638G>C)
n.511C>G
c.4014C>G (p.Tyr1338Ter)
c.3948C>G (p.Tyr1316Ter)
c.4008C>G (p.Tyr1336Ter)
c.3954C>G (p.Tyr1318Ter)
c.3879C>G (p.Tyr1293Ter)
c.3474C>G (p.Tyr1158Ter)
c.2832C>G (p.Tyr944Ter)
c.342C>G (p.Tyr114Ter)
n.4257C>G
gnomAD v4
10g.71732090C>TCA5544851C10orf105,CDH23c.3819C>T (p.Tyr1273=)
c.3816C>T (p.Tyr1272=)
c.3834C>T (p.Tyr1278=)
c.-6+5638G>A (n.-6+5638G>A)
n.511C>T
c.4014C>T (p.Tyr1338=)
c.3948C>T (p.Tyr1316=)
c.4008C>T (p.Tyr1336=)
c.3954C>T (p.Tyr1318=)
c.3879C>T (p.Tyr1293=)
c.3474C>T (p.Tyr1158=)
c.2832C>T (p.Tyr944=)
c.342C>T (p.Tyr114=)
n.4257C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732091G>ACA5544852C10orf105,CDH23c.3820G>A (p.Glu1274Lys)
c.3817G>A (p.Glu1273Lys)
c.3835G>A (p.Glu1279Lys)
c.-6+5637C>T (n.-6+5637C>T)
n.512G>A
c.4015G>A (p.Glu1339Lys)
c.3949G>A (p.Glu1317Lys)
c.4009G>A (p.Glu1337Lys)
c.3955G>A (p.Glu1319Lys)
c.3880G>A (p.Glu1294Lys)
c.3475G>A (p.Glu1159Lys)
c.2833G>A (p.Glu945Lys)
c.343G>A (p.Glu115Lys)
n.4258G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71732091G>CCA377156188C10orf105,CDH23c.3820G>C (p.Glu1274Gln)
c.3817G>C (p.Glu1273Gln)
c.3835G>C (p.Glu1279Gln)
c.-6+5637C>G (n.-6+5637C>G)
n.512G>C
c.4015G>C (p.Glu1339Gln)
c.3949G>C (p.Glu1317Gln)
c.4009G>C (p.Glu1337Gln)
c.3955G>C (p.Glu1319Gln)
c.3880G>C (p.Glu1294Gln)
c.3475G>C (p.Glu1159Gln)
c.2833G>C (p.Glu945Gln)
c.343G>C (p.Glu115Gln)
n.4258G>C
dbSNP gnomAD v4
10g.71732091G=CA1918849667C10orf105,CDH23c.3820G= (p.Glu1274=)
c.3817G= (p.Glu1273=)
c.3835G= (p.Glu1279=)
c.-6+5637C= (n.-6+5637C=)
n.512G=
c.4015G= (p.Glu1339=)
c.3949G= (p.Glu1317=)
c.4009G= (p.Glu1337=)
c.3955G= (p.Glu1319=)
c.3880G= (p.Glu1294=)
c.3475G= (p.Glu1159=)
c.2833G= (p.Glu945=)
c.343G= (p.Glu115=)
n.4258G=
10g.71732091G>TCA377156190C10orf105,CDH23c.3820G>T (p.Glu1274Ter)
c.3817G>T (p.Glu1273Ter)
c.3835G>T (p.Glu1279Ter)
c.-6+5637C>A (n.-6+5637C>A)
n.512G>T
c.4015G>T (p.Glu1339Ter)
c.3949G>T (p.Glu1317Ter)
c.4009G>T (p.Glu1337Ter)
c.3955G>T (p.Glu1319Ter)
c.3880G>T (p.Glu1294Ter)
c.3475G>T (p.Glu1159Ter)
c.2833G>T (p.Glu945Ter)
c.343G>T (p.Glu115Ter)
n.4258G>T
10g.71732092A>CCA377156192C10orf105,CDH23c.3821A>C (p.Glu1274Ala)
c.3818A>C (p.Glu1273Ala)
c.3836A>C (p.Glu1279Ala)
c.-6+5636T>G (n.-6+5636T>G)
n.513A>C
c.4016A>C (p.Glu1339Ala)
c.3950A>C (p.Glu1317Ala)
c.4010A>C (p.Glu1337Ala)
c.3956A>C (p.Glu1319Ala)
c.3881A>C (p.Glu1294Ala)
c.3476A>C (p.Glu1159Ala)
c.2834A>C (p.Glu945Ala)
c.344A>C (p.Glu115Ala)
n.4259A>C
10g.71732092A>GCA377156194C10orf105,CDH23c.3821A>G (p.Glu1274Gly)
c.3818A>G (p.Glu1273Gly)
c.3836A>G (p.Glu1279Gly)
c.-6+5636T>C (n.-6+5636T>C)
n.513A>G
c.4016A>G (p.Glu1339Gly)
c.3950A>G (p.Glu1317Gly)
c.4010A>G (p.Glu1337Gly)
c.3956A>G (p.Glu1319Gly)
c.3881A>G (p.Glu1294Gly)
c.3476A>G (p.Glu1159Gly)
c.2834A>G (p.Glu945Gly)
c.344A>G (p.Glu115Gly)
n.4259A>G
10g.71732092A>TCA377156197C10orf105,CDH23c.3821A>T (p.Glu1274Val)
c.3818A>T (p.Glu1273Val)
c.3836A>T (p.Glu1279Val)
c.-6+5636T>A (n.-6+5636T>A)
n.513A>T
c.4016A>T (p.Glu1339Val)
c.3950A>T (p.Glu1317Val)
c.4010A>T (p.Glu1337Val)
c.3956A>T (p.Glu1319Val)
c.3881A>T (p.Glu1294Val)
c.3476A>T (p.Glu1159Val)
c.2834A>T (p.Glu945Val)
c.344A>T (p.Glu115Val)
n.4259A>T
10g.71732093G>ACA470283733C10orf105,CDH23c.3822G>A (p.Glu1274=)
c.3819G>A (p.Glu1273=)
c.3837G>A (p.Glu1279=)
c.-6+5635C>T (n.-6+5635C>T)
n.514G>A
c.4017G>A (p.Glu1339=)
c.3951G>A (p.Glu1317=)
c.4011G>A (p.Glu1337=)
c.3957G>A (p.Glu1319=)
c.3882G>A (p.Glu1294=)
c.3477G>A (p.Glu1159=)
c.2835G>A (p.Glu945=)
c.345G>A (p.Glu115=)
n.4260G>A
ClinVar gnomAD v4
10g.71732093G>CCA377156198C10orf105,CDH23c.3822G>C (p.Glu1274Asp)
c.3819G>C (p.Glu1273Asp)
c.3837G>C (p.Glu1279Asp)
c.-6+5635C>G (n.-6+5635C>G)
n.514G>C
c.4017G>C (p.Glu1339Asp)
c.3951G>C (p.Glu1317Asp)
c.4011G>C (p.Glu1337Asp)
c.3957G>C (p.Glu1319Asp)
c.3882G>C (p.Glu1294Asp)
c.3477G>C (p.Glu1159Asp)
c.2835G>C (p.Glu945Asp)
c.345G>C (p.Glu115Asp)
n.4260G>C
10g.71732093G>TCA377156199C10orf105,CDH23c.3822G>T (p.Glu1274Asp)
c.3819G>T (p.Glu1273Asp)
c.3837G>T (p.Glu1279Asp)
c.-6+5635C>A (n.-6+5635C>A)
n.514G>T
c.4017G>T (p.Glu1339Asp)
c.3951G>T (p.Glu1317Asp)
c.4011G>T (p.Glu1337Asp)
c.3957G>T (p.Glu1319Asp)
c.3882G>T (p.Glu1294Asp)
c.3477G>T (p.Glu1159Asp)
c.2835G>T (p.Glu945Asp)
c.345G>T (p.Glu115Asp)
n.4260G>T
10g.71732094A>CCA377156200C10orf105,CDH23c.3823A>C (p.Thr1275Pro)
c.3820A>C (p.Thr1274Pro)
c.3838A>C (p.Thr1280Pro)
c.-6+5634T>G (n.-6+5634T>G)
n.515A>C
c.4018A>C (p.Thr1340Pro)
c.3952A>C (p.Thr1318Pro)
c.4012A>C (p.Thr1338Pro)
c.3958A>C (p.Thr1320Pro)
c.3883A>C (p.Thr1295Pro)
c.3478A>C (p.Thr1160Pro)
c.2836A>C (p.Thr946Pro)
c.346A>C (p.Thr116Pro)
n.4261A>C
10g.71732094A>GCA377156201C10orf105,CDH23c.3823A>G (p.Thr1275Ala)
c.3820A>G (p.Thr1274Ala)
c.3838A>G (p.Thr1280Ala)
c.-6+5634T>C (n.-6+5634T>C)
n.515A>G
c.4018A>G (p.Thr1340Ala)
c.3952A>G (p.Thr1318Ala)
c.4012A>G (p.Thr1338Ala)
c.3958A>G (p.Thr1320Ala)
c.3883A>G (p.Thr1295Ala)
c.3478A>G (p.Thr1160Ala)
c.2836A>G (p.Thr946Ala)
c.346A>G (p.Thr116Ala)
n.4261A>G
10g.71732094A>TCA377156202C10orf105,CDH23c.3823A>T (p.Thr1275Ser)
c.3820A>T (p.Thr1274Ser)
c.3838A>T (p.Thr1280Ser)
c.-6+5634T>A (n.-6+5634T>A)
n.515A>T
c.4018A>T (p.Thr1340Ser)
c.3952A>T (p.Thr1318Ser)
c.4012A>T (p.Thr1338Ser)
c.3958A>T (p.Thr1320Ser)
c.3883A>T (p.Thr1295Ser)
c.3478A>T (p.Thr1160Ser)
c.2836A>T (p.Thr946Ser)
c.346A>T (p.Thr116Ser)
n.4261A>T
10g.71732095C>ACA377156210C10orf105,CDH23c.3824C>A (p.Thr1275Asn)
c.3821C>A (p.Thr1274Asn)
c.3839C>A (p.Thr1280Asn)
c.-6+5633G>T (n.-6+5633G>T)
n.516C>A
c.4019C>A (p.Thr1340Asn)
c.3953C>A (p.Thr1318Asn)
c.4013C>A (p.Thr1338Asn)
c.3959C>A (p.Thr1320Asn)
c.3884C>A (p.Thr1295Asn)
c.3479C>A (p.Thr1160Asn)
c.2837C>A (p.Thr946Asn)
c.347C>A (p.Thr116Asn)
n.4262C>A
dbSNP
10g.71732095C=CA1918849668C10orf105,CDH23c.3824C= (p.Thr1275=)
c.3821C= (p.Thr1274=)
c.3839C= (p.Thr1280=)
c.-6+5633G= (n.-6+5633G=)
n.516C=
c.4019C= (p.Thr1340=)
c.3953C= (p.Thr1318=)
c.4013C= (p.Thr1338=)
c.3959C= (p.Thr1320=)
c.3884C= (p.Thr1295=)
c.3479C= (p.Thr1160=)
c.2837C= (p.Thr946=)
c.347C= (p.Thr116=)
n.4262C=
10g.71732095C>GCA377156207C10orf105,CDH23c.3824C>G (p.Thr1275Ser)
c.3821C>G (p.Thr1274Ser)
c.3839C>G (p.Thr1280Ser)
c.-6+5633G>C (n.-6+5633G>C)
n.516C>G
c.4019C>G (p.Thr1340Ser)
c.3953C>G (p.Thr1318Ser)
c.4013C>G (p.Thr1338Ser)
c.3959C>G (p.Thr1320Ser)
c.3884C>G (p.Thr1295Ser)
c.3479C>G (p.Thr1160Ser)
c.2837C>G (p.Thr946Ser)
c.347C>G (p.Thr116Ser)
n.4262C>G
10g.71732095C>TCA377156204C10orf105,CDH23c.3824C>T (p.Thr1275Ile)
c.3821C>T (p.Thr1274Ile)
c.3839C>T (p.Thr1280Ile)
c.-6+5633G>A (n.-6+5633G>A)
n.516C>T
c.4019C>T (p.Thr1340Ile)
c.3953C>T (p.Thr1318Ile)
c.4013C>T (p.Thr1338Ile)
c.3959C>T (p.Thr1320Ile)
c.3884C>T (p.Thr1295Ile)
c.3479C>T (p.Thr1160Ile)
c.2837C>T (p.Thr946Ile)
c.347C>T (p.Thr116Ile)
n.4262C>T
10g.71732096C>ACA470283736C10orf105,CDH23c.3825C>A (p.Thr1275=)
c.3822C>A (p.Thr1274=)
c.3840C>A (p.Thr1280=)
c.-6+5632G>T (n.-6+5632G>T)
n.517C>A
c.4020C>A (p.Thr1340=)
c.3954C>A (p.Thr1318=)
c.4014C>A (p.Thr1338=)
c.3960C>A (p.Thr1320=)
c.3885C>A (p.Thr1295=)
c.3480C>A (p.Thr1160=)
c.2838C>A (p.Thr946=)
c.348C>A (p.Thr116=)
n.4263C>A
dbSNP
10g.71732096C>GCA470283737C10orf105,CDH23c.3825C>G (p.Thr1275=)
c.3822C>G (p.Thr1274=)
c.3840C>G (p.Thr1280=)
c.-6+5632G>C (n.-6+5632G>C)
n.517C>G
c.4020C>G (p.Thr1340=)
c.3954C>G (p.Thr1318=)
c.4014C>G (p.Thr1338=)
c.3960C>G (p.Thr1320=)
c.3885C>G (p.Thr1295=)
c.3480C>G (p.Thr1160=)
c.2838C>G (p.Thr946=)
c.348C>G (p.Thr116=)
n.4263C>G
COSMIC COSMIC
10g.71732096C>TCA470283739C10orf105,CDH23c.3825C>T (p.Thr1275=)
c.3822C>T (p.Thr1274=)
c.3840C>T (p.Thr1280=)
c.-6+5632G>A (n.-6+5632G>A)
n.517C>T
c.4020C>T (p.Thr1340=)
c.3954C>T (p.Thr1318=)
c.4014C>T (p.Thr1338=)
c.3960C>T (p.Thr1320=)
c.3885C>T (p.Thr1295=)
c.3480C>T (p.Thr1160=)
c.2838C>T (p.Thr946=)
c.348C>T (p.Thr116=)
n.4263C>T
10g.71732097A>CCA377156212C10orf105,CDH23c.3826A>C (p.Lys1276Gln)
c.3823A>C (p.Lys1275Gln)
c.3841A>C (p.Lys1281Gln)
c.-6+5631T>G (n.-6+5631T>G)
n.518A>C
c.4021A>C (p.Lys1341Gln)
c.3955A>C (p.Lys1319Gln)
c.4015A>C (p.Lys1339Gln)
c.3961A>C (p.Lys1321Gln)
c.3886A>C (p.Lys1296Gln)
c.3481A>C (p.Lys1161Gln)
c.2839A>C (p.Lys947Gln)
c.349A>C (p.Lys117Gln)
n.4264A>C
10g.71732097A>GCA377156218C10orf105,CDH23c.3826A>G (p.Lys1276Glu)
c.3823A>G (p.Lys1275Glu)
c.3841A>G (p.Lys1281Glu)
c.-6+5631T>C (n.-6+5631T>C)
n.518A>G
c.4021A>G (p.Lys1341Glu)
c.3955A>G (p.Lys1319Glu)
c.4015A>G (p.Lys1339Glu)
c.3961A>G (p.Lys1321Glu)
c.3886A>G (p.Lys1296Glu)
c.3481A>G (p.Lys1161Glu)
c.2839A>G (p.Lys947Glu)
c.349A>G (p.Lys117Glu)
n.4264A>G
gnomAD v4
10g.71732097A>TCA377156219C10orf105,CDH23c.3826A>T (p.Lys1276Ter)
c.3823A>T (p.Lys1275Ter)
c.3841A>T (p.Lys1281Ter)
c.-6+5631T>A (n.-6+5631T>A)
n.518A>T
c.4021A>T (p.Lys1341Ter)
c.3955A>T (p.Lys1319Ter)
c.4015A>T (p.Lys1339Ter)
c.3961A>T (p.Lys1321Ter)
c.3886A>T (p.Lys1296Ter)
c.3481A>T (p.Lys1161Ter)
c.2839A>T (p.Lys947Ter)
c.349A>T (p.Lys117Ter)
n.4264A>T
10g.71732098delCA2609568447C10orf105,CDH23c.3827del (p.Lys1276ArgfsTer5)
c.3824del (p.Lys1275ArgfsTer5)
c.3842del (p.Lys1281ArgfsTer5)
c.-6+5631del (n.-6+5631del)
n.519del
c.4022del (p.Lys1341ArgfsTer5)
c.3956del (p.Lys1319ArgfsTer5)
c.4016del (p.Lys1339ArgfsTer5)
c.3962del (p.Lys1321ArgfsTer5)
c.3887del (p.Lys1296ArgfsTer5)
c.3482del (p.Lys1161ArgfsTer5)
c.2840del (p.Lys947ArgfsTer5)
c.350del (p.Lys117ArgfsTer5)
n.4265del
gnomAD v4
10g.71732098A>CCA377156220C10orf105,CDH23c.3827A>C (p.Lys1276Thr)
c.3824A>C (p.Lys1275Thr)
c.3842A>C (p.Lys1281Thr)
c.-6+5630T>G (n.-6+5630T>G)
n.519A>C
c.4022A>C (p.Lys1341Thr)
c.3956A>C (p.Lys1319Thr)
c.4016A>C (p.Lys1339Thr)
c.3962A>C (p.Lys1321Thr)
c.3887A>C (p.Lys1296Thr)
c.3482A>C (p.Lys1161Thr)
c.2840A>C (p.Lys947Thr)
c.350A>C (p.Lys117Thr)
n.4265A>C
gnomAD v4
10g.71732098A>GCA377156222C10orf105,CDH23c.3827A>G (p.Lys1276Arg)
c.3824A>G (p.Lys1275Arg)
c.3842A>G (p.Lys1281Arg)
c.-6+5630T>C (n.-6+5630T>C)
n.519A>G
c.4022A>G (p.Lys1341Arg)
c.3956A>G (p.Lys1319Arg)
c.4016A>G (p.Lys1339Arg)
c.3962A>G (p.Lys1321Arg)
c.3887A>G (p.Lys1296Arg)
c.3482A>G (p.Lys1161Arg)
c.2840A>G (p.Lys947Arg)
c.350A>G (p.Lys117Arg)
n.4265A>G
10g.71732098A>TCA377156224C10orf105,CDH23c.3827A>T (p.Lys1276Met)
c.3824A>T (p.Lys1275Met)
c.3842A>T (p.Lys1281Met)
c.-6+5630T>A (n.-6+5630T>A)
n.519A>T
c.4022A>T (p.Lys1341Met)
c.3956A>T (p.Lys1319Met)
c.4016A>T (p.Lys1339Met)
c.3962A>T (p.Lys1321Met)
c.3887A>T (p.Lys1296Met)
c.3482A>T (p.Lys1161Met)
c.2840A>T (p.Lys947Met)
c.350A>T (p.Lys117Met)
n.4265A>T
10g.71732099G>ACA470283742C10orf105,CDH23c.3828G>A (p.Lys1276=)
c.3825G>A (p.Lys1275=)
c.3843G>A (p.Lys1281=)
c.-6+5629C>T (n.-6+5629C>T)
n.520G>A
c.4023G>A (p.Lys1341=)
c.3957G>A (p.Lys1319=)
c.4017G>A (p.Lys1339=)
c.3963G>A (p.Lys1321=)
c.3888G>A (p.Lys1296=)
c.3483G>A (p.Lys1161=)
c.2841G>A (p.Lys947=)
c.351G>A (p.Lys117=)
n.4266G>A
ClinVar
10g.71732099G>CCA377156228C10orf105,CDH23c.3828G>C (p.Lys1276Asn)
c.3825G>C (p.Lys1275Asn)
c.3843G>C (p.Lys1281Asn)
c.-6+5629C>G (n.-6+5629C>G)
n.520G>C
c.4023G>C (p.Lys1341Asn)
c.3957G>C (p.Lys1319Asn)
c.4017G>C (p.Lys1339Asn)
c.3963G>C (p.Lys1321Asn)
c.3888G>C (p.Lys1296Asn)
c.3483G>C (p.Lys1161Asn)
c.2841G>C (p.Lys947Asn)
c.351G>C (p.Lys117Asn)
n.4266G>C
dbSNP gnomAD v4
10g.71732099G>TCA377156226C10orf105,CDH23c.3828G>T (p.Lys1276Asn)
c.3825G>T (p.Lys1275Asn)
c.3843G>T (p.Lys1281Asn)
c.-6+5629C>A (n.-6+5629C>A)
n.520G>T
c.4023G>T (p.Lys1341Asn)
c.3957G>T (p.Lys1319Asn)
c.4017G>T (p.Lys1339Asn)
c.3963G>T (p.Lys1321Asn)
c.3888G>T (p.Lys1296Asn)
c.3483G>T (p.Lys1161Asn)
c.2841G>T (p.Lys947Asn)
c.351G>T (p.Lys117Asn)
n.4266G>T
gnomAD v4
10g.71732100A>CCA377156231C10orf105,CDH23c.3829A>C (p.Thr1277Pro)
c.3826A>C (p.Thr1276Pro)
c.3844A>C (p.Thr1282Pro)
c.-6+5628T>G (n.-6+5628T>G)
n.521A>C
c.4024A>C (p.Thr1342Pro)
c.3958A>C (p.Thr1320Pro)
c.4018A>C (p.Thr1340Pro)
c.3964A>C (p.Thr1322Pro)
c.3889A>C (p.Thr1297Pro)
c.3484A>C (p.Thr1162Pro)
c.2842A>C (p.Thr948Pro)
c.352A>C (p.Thr118Pro)
n.4267A>C
gnomAD v4
10g.71732100A>GCA377156232C10orf105,CDH23c.3829A>G (p.Thr1277Ala)
c.3826A>G (p.Thr1276Ala)
c.3844A>G (p.Thr1282Ala)
c.-6+5628T>C (n.-6+5628T>C)
n.521A>G
c.4024A>G (p.Thr1342Ala)
c.3958A>G (p.Thr1320Ala)
c.4018A>G (p.Thr1340Ala)
c.3964A>G (p.Thr1322Ala)
c.3889A>G (p.Thr1297Ala)
c.3484A>G (p.Thr1162Ala)
c.2842A>G (p.Thr948Ala)
c.352A>G (p.Thr118Ala)
n.4267A>G
10g.71732100A>TCA377156233C10orf105,CDH23c.3829A>T (p.Thr1277Ser)
c.3826A>T (p.Thr1276Ser)
c.3844A>T (p.Thr1282Ser)
c.-6+5628T>A (n.-6+5628T>A)
n.521A>T
c.4024A>T (p.Thr1342Ser)
c.3958A>T (p.Thr1320Ser)
c.4018A>T (p.Thr1340Ser)
c.3964A>T (p.Thr1322Ser)
c.3889A>T (p.Thr1297Ser)
c.3484A>T (p.Thr1162Ser)
c.2842A>T (p.Thr948Ser)
c.352A>T (p.Thr118Ser)
n.4267A>T
10g.71732101C>ACA377156234C10orf105,CDH23c.3830C>A (p.Thr1277Asn)
c.3827C>A (p.Thr1276Asn)
c.3845C>A (p.Thr1282Asn)
c.-6+5627G>T (n.-6+5627G>T)
n.522C>A
c.4025C>A (p.Thr1342Asn)
c.3959C>A (p.Thr1320Asn)
c.4019C>A (p.Thr1340Asn)
c.3965C>A (p.Thr1322Asn)
c.3890C>A (p.Thr1297Asn)
c.3485C>A (p.Thr1162Asn)
c.2843C>A (p.Thr948Asn)
c.353C>A (p.Thr118Asn)
n.4268C>A
10g.71732101C=CA1918849669C10orf105,CDH23c.3830C= (p.Thr1277=)
c.3827C= (p.Thr1276=)
c.3845C= (p.Thr1282=)
c.-6+5627G= (n.-6+5627G=)
n.522C=
c.4025C= (p.Thr1342=)
c.3959C= (p.Thr1320=)
c.4019C= (p.Thr1340=)
c.3965C= (p.Thr1322=)
c.3890C= (p.Thr1297=)
c.3485C= (p.Thr1162=)
c.2843C= (p.Thr948=)
c.353C= (p.Thr118=)
n.4268C=
10g.71732101C>GCA377156235C10orf105,CDH23c.3830C>G (p.Thr1277Ser)
c.3827C>G (p.Thr1276Ser)
c.3845C>G (p.Thr1282Ser)
c.-6+5627G>C (n.-6+5627G>C)
n.522C>G
c.4025C>G (p.Thr1342Ser)
c.3959C>G (p.Thr1320Ser)
c.4019C>G (p.Thr1340Ser)
c.3965C>G (p.Thr1322Ser)
c.3890C>G (p.Thr1297Ser)
c.3485C>G (p.Thr1162Ser)
c.2843C>G (p.Thr948Ser)
c.353C>G (p.Thr118Ser)
n.4268C>G
dbSNP
10g.71732101C>TCA377156236C10orf105,CDH23c.3830C>T (p.Thr1277Ile)
c.3827C>T (p.Thr1276Ile)
c.3845C>T (p.Thr1282Ile)
c.-6+5627G>A (n.-6+5627G>A)
n.522C>T
c.4025C>T (p.Thr1342Ile)
c.3959C>T (p.Thr1320Ile)
c.4019C>T (p.Thr1340Ile)
c.3965C>T (p.Thr1322Ile)
c.3890C>T (p.Thr1297Ile)
c.3485C>T (p.Thr1162Ile)
c.2843C>T (p.Thr948Ile)
c.353C>T (p.Thr118Ile)
n.4268C>T
dbSNP gnomAD v4
10g.71732102C>ACA470283744C10orf105,CDH23c.3831C>A (p.Thr1277=)
c.3828C>A (p.Thr1276=)
c.3846C>A (p.Thr1282=)
c.-6+5626G>T (n.-6+5626G>T)
n.523C>A
c.4026C>A (p.Thr1342=)
c.3960C>A (p.Thr1320=)
c.4020C>A (p.Thr1340=)
c.3966C>A (p.Thr1322=)
c.3891C>A (p.Thr1297=)
c.3486C>A (p.Thr1162=)
c.2844C>A (p.Thr948=)
c.354C>A (p.Thr118=)
n.4269C>A
10g.71732102C=CA1918849670C10orf105,CDH23c.3831C= (p.Thr1277=)
c.3828C= (p.Thr1276=)
c.3846C= (p.Thr1282=)
c.-6+5626G= (n.-6+5626G=)
n.523C=
c.4026C= (p.Thr1342=)
c.3960C= (p.Thr1320=)
c.4020C= (p.Thr1340=)
c.3966C= (p.Thr1322=)
c.3891C= (p.Thr1297=)
c.3486C= (p.Thr1162=)
c.2844C= (p.Thr948=)
c.354C= (p.Thr118=)
n.4269C=
10g.71732102C>GCA470283745C10orf105,CDH23c.3831C>G (p.Thr1277=)
c.3828C>G (p.Thr1276=)
c.3846C>G (p.Thr1282=)
c.-6+5626G>C (n.-6+5626G>C)
n.523C>G
c.4026C>G (p.Thr1342=)
c.3960C>G (p.Thr1320=)
c.4020C>G (p.Thr1340=)
c.3966C>G (p.Thr1322=)
c.3891C>G (p.Thr1297=)
c.3486C>G (p.Thr1162=)
c.2844C>G (p.Thr948=)
c.354C>G (p.Thr118=)
n.4269C>G
dbSNP
10g.71732102C>TCA470283746C10orf105,CDH23c.3831C>T (p.Thr1277=)
c.3828C>T (p.Thr1276=)
c.3846C>T (p.Thr1282=)
c.-6+5626G>A (n.-6+5626G>A)
n.523C>T
c.4026C>T (p.Thr1342=)
c.3960C>T (p.Thr1320=)
c.4020C>T (p.Thr1340=)
c.3966C>T (p.Thr1322=)
c.3891C>T (p.Thr1297=)
c.3486C>T (p.Thr1162=)
c.2844C>T (p.Thr948=)
c.354C>T (p.Thr118=)
n.4269C>T
dbSNP
10g.71732103A=CA1918849671C10orf105,CDH23c.3832A= (p.Ser1278=)
c.3829A= (p.Ser1277=)
c.3847A= (p.Ser1283=)
c.-6+5625T= (n.-6+5625T=)
n.524A=
c.4027A= (p.Ser1343=)
c.3961A= (p.Ser1321=)
c.4021A= (p.Ser1341=)
c.3967A= (p.Ser1323=)
c.3892A= (p.Ser1298=)
c.3487A= (p.Ser1163=)
c.2845A= (p.Ser949=)
c.355A= (p.Ser119=)
n.4270A=
10g.71732103A>CCA377156238C10orf105,CDH23c.3832A>C (p.Ser1278Arg)
c.3829A>C (p.Ser1277Arg)
c.3847A>C (p.Ser1283Arg)
c.-6+5625T>G (n.-6+5625T>G)
n.524A>C
c.4027A>C (p.Ser1343Arg)
c.3961A>C (p.Ser1321Arg)
c.4021A>C (p.Ser1341Arg)
c.3967A>C (p.Ser1323Arg)
c.3892A>C (p.Ser1298Arg)
c.3487A>C (p.Ser1163Arg)
c.2845A>C (p.Ser949Arg)
c.355A>C (p.Ser119Arg)
n.4270A>C
ClinVar dbSNP gnomAD v4
10g.71732103A>GCA377156248C10orf105,CDH23c.3832A>G (p.Ser1278Gly)
c.3829A>G (p.Ser1277Gly)
c.3847A>G (p.Ser1283Gly)
c.-6+5625T>C (n.-6+5625T>C)
n.524A>G
c.4027A>G (p.Ser1343Gly)
c.3961A>G (p.Ser1321Gly)
c.4021A>G (p.Ser1341Gly)
c.3967A>G (p.Ser1323Gly)
c.3892A>G (p.Ser1298Gly)
c.3487A>G (p.Ser1163Gly)
c.2845A>G (p.Ser949Gly)
c.355A>G (p.Ser119Gly)
n.4270A>G
dbSNP gnomAD v3 gnomAD v4
10g.71732103A>TCA377156246C10orf105,CDH23c.3832A>T (p.Ser1278Cys)
c.3829A>T (p.Ser1277Cys)
c.3847A>T (p.Ser1283Cys)
c.-6+5625T>A (n.-6+5625T>A)
n.524A>T
c.4027A>T (p.Ser1343Cys)
c.3961A>T (p.Ser1321Cys)
c.4021A>T (p.Ser1341Cys)
c.3967A>T (p.Ser1323Cys)
c.3892A>T (p.Ser1298Cys)
c.3487A>T (p.Ser1163Cys)
c.2845A>T (p.Ser949Cys)
c.355A>T (p.Ser119Cys)
n.4270A>T
10g.71732104G>ACA377156250C10orf105,CDH23c.3833G>A (p.Ser1278Asn)
c.3830G>A (p.Ser1277Asn)
c.3848G>A (p.Ser1283Asn)
c.-6+5624C>T (n.-6+5624C>T)
n.525G>A
c.4028G>A (p.Ser1343Asn)
c.3962G>A (p.Ser1321Asn)
c.4022G>A (p.Ser1341Asn)
c.3968G>A (p.Ser1323Asn)
c.3893G>A (p.Ser1298Asn)
c.3488G>A (p.Ser1163Asn)
c.2846G>A (p.Ser949Asn)
c.356G>A (p.Ser119Asn)
n.4271G>A
10g.71732104G>CCA377156254C10orf105,CDH23c.3833G>C (p.Ser1278Thr)
c.3830G>C (p.Ser1277Thr)
c.3848G>C (p.Ser1283Thr)
c.-6+5624C>G (n.-6+5624C>G)
n.525G>C
c.4028G>C (p.Ser1343Thr)
c.3962G>C (p.Ser1321Thr)
c.4022G>C (p.Ser1341Thr)
c.3968G>C (p.Ser1323Thr)
c.3893G>C (p.Ser1298Thr)
c.3488G>C (p.Ser1163Thr)
c.2846G>C (p.Ser949Thr)
c.356G>C (p.Ser119Thr)
n.4271G>C
10g.71732104G>TCA377156256C10orf105,CDH23c.3833G>T (p.Ser1278Ile)
c.3830G>T (p.Ser1277Ile)
c.3848G>T (p.Ser1283Ile)
c.-6+5624C>A (n.-6+5624C>A)
n.525G>T
c.4028G>T (p.Ser1343Ile)
c.3962G>T (p.Ser1321Ile)
c.4022G>T (p.Ser1341Ile)
c.3968G>T (p.Ser1323Ile)
c.3893G>T (p.Ser1298Ile)
c.3488G>T (p.Ser1163Ile)
c.2846G>T (p.Ser949Ile)
c.356G>T (p.Ser119Ile)
n.4271G>T
10g.71732105C>ACA377156258C10orf105,CDH23c.3834C>A (p.Ser1278Arg)
c.3831C>A (p.Ser1277Arg)
c.3849C>A (p.Ser1283Arg)
c.-6+5623G>T (n.-6+5623G>T)
n.526C>A
c.4029C>A (p.Ser1343Arg)
c.3963C>A (p.Ser1321Arg)
c.4023C>A (p.Ser1341Arg)
c.3969C>A (p.Ser1323Arg)
c.3894C>A (p.Ser1298Arg)
c.3489C>A (p.Ser1163Arg)
c.2847C>A (p.Ser949Arg)
c.357C>A (p.Ser119Arg)
n.4272C>A
10g.71732105C>GCA377156260C10orf105,CDH23c.3834C>G (p.Ser1278Arg)
c.3831C>G (p.Ser1277Arg)
c.3849C>G (p.Ser1283Arg)
c.-6+5623G>C (n.-6+5623G>C)
n.526C>G
c.4029C>G (p.Ser1343Arg)
c.3963C>G (p.Ser1321Arg)
c.4023C>G (p.Ser1341Arg)
c.3969C>G (p.Ser1323Arg)
c.3894C>G (p.Ser1298Arg)
c.3489C>G (p.Ser1163Arg)
c.2847C>G (p.Ser949Arg)
c.357C>G (p.Ser119Arg)
n.4272C>G
10g.71732105C>TCA470283747C10orf105,CDH23c.3834C>T (p.Ser1278=)
c.3831C>T (p.Ser1277=)
c.3849C>T (p.Ser1283=)
c.-6+5623G>A (n.-6+5623G>A)
n.526C>T
c.4029C>T (p.Ser1343=)
c.3963C>T (p.Ser1321=)
c.4023C>T (p.Ser1341=)
c.3969C>T (p.Ser1323=)
c.3894C>T (p.Ser1298=)
c.3489C>T (p.Ser1163=)
c.2847C>T (p.Ser949=)
c.357C>T (p.Ser119=)
n.4272C>T
ClinVar
10g.71732106T>ACA377156264C10orf105,CDH23c.3835T>A (p.Tyr1279Asn)
c.3832T>A (p.Tyr1278Asn)
c.3850T>A (p.Tyr1284Asn)
c.-6+5622A>T (n.-6+5622A>T)
n.527T>A
c.4030T>A (p.Tyr1344Asn)
c.3964T>A (p.Tyr1322Asn)
c.4024T>A (p.Tyr1342Asn)
c.3970T>A (p.Tyr1324Asn)
c.3895T>A (p.Tyr1299Asn)
c.3490T>A (p.Tyr1164Asn)
c.2848T>A (p.Tyr950Asn)
c.358T>A (p.Tyr120Asn)
n.4273T>A
10g.71732106T>CCA377156265C10orf105,CDH23c.3835T>C (p.Tyr1279His)
c.3832T>C (p.Tyr1278His)
c.3850T>C (p.Tyr1284His)
c.-6+5622A>G (n.-6+5622A>G)
n.527T>C
c.4030T>C (p.Tyr1344His)
c.3964T>C (p.Tyr1322His)
c.4024T>C (p.Tyr1342His)
c.3970T>C (p.Tyr1324His)
c.3895T>C (p.Tyr1299His)
c.3490T>C (p.Tyr1164His)
c.2848T>C (p.Tyr950His)
c.358T>C (p.Tyr120His)
n.4273T>C
10g.71732106T>GCA377156268C10orf105,CDH23c.3835T>G (p.Tyr1279Asp)
c.3832T>G (p.Tyr1278Asp)
c.3850T>G (p.Tyr1284Asp)
c.-6+5622A>C (n.-6+5622A>C)
n.527T>G
c.4030T>G (p.Tyr1344Asp)
c.3964T>G (p.Tyr1322Asp)
c.4024T>G (p.Tyr1342Asp)
c.3970T>G (p.Tyr1324Asp)
c.3895T>G (p.Tyr1299Asp)
c.3490T>G (p.Tyr1164Asp)
c.2848T>G (p.Tyr950Asp)
c.358T>G (p.Tyr120Asp)
n.4273T>G
10g.71732107A>CCA377156272C10orf105,CDH23c.3836A>C (p.Tyr1279Ser)
c.3833A>C (p.Tyr1278Ser)
c.3851A>C (p.Tyr1284Ser)
c.-6+5621T>G (n.-6+5621T>G)
n.528A>C
c.4031A>C (p.Tyr1344Ser)
c.3965A>C (p.Tyr1322Ser)
c.4025A>C (p.Tyr1342Ser)
c.3971A>C (p.Tyr1324Ser)
c.3896A>C (p.Tyr1299Ser)
c.3491A>C (p.Tyr1164Ser)
c.2849A>C (p.Tyr950Ser)
c.359A>C (p.Tyr120Ser)
n.4274A>C
10g.71732107A>GCA377156274C10orf105,CDH23c.3836A>G (p.Tyr1279Cys)
c.3833A>G (p.Tyr1278Cys)
c.3851A>G (p.Tyr1284Cys)
c.-6+5621T>C (n.-6+5621T>C)
n.528A>G
c.4031A>G (p.Tyr1344Cys)
c.3965A>G (p.Tyr1322Cys)
c.4025A>G (p.Tyr1342Cys)
c.3971A>G (p.Tyr1324Cys)
c.3896A>G (p.Tyr1299Cys)
c.3491A>G (p.Tyr1164Cys)
c.2849A>G (p.Tyr950Cys)
c.359A>G (p.Tyr120Cys)
n.4274A>G
10g.71732107A>TCA377156276C10orf105,CDH23c.3836A>T (p.Tyr1279Phe)
c.3833A>T (p.Tyr1278Phe)
c.3851A>T (p.Tyr1284Phe)
c.-6+5621T>A (n.-6+5621T>A)
n.528A>T
c.4031A>T (p.Tyr1344Phe)
c.3965A>T (p.Tyr1322Phe)
c.4025A>T (p.Tyr1342Phe)
c.3971A>T (p.Tyr1324Phe)
c.3896A>T (p.Tyr1299Phe)
c.3491A>T (p.Tyr1164Phe)
c.2849A>T (p.Tyr950Phe)
c.359A>T (p.Tyr120Phe)
n.4274A>T
10g.71732108C>ACA377156278C10orf105,CDH23c.3837C>A (p.Tyr1279Ter)
c.3834C>A (p.Tyr1278Ter)
c.3852C>A (p.Tyr1284Ter)
c.-6+5620G>T (n.-6+5620G>T)
n.529C>A
c.4032C>A (p.Tyr1344Ter)
c.3966C>A (p.Tyr1322Ter)
c.4026C>A (p.Tyr1342Ter)
c.3972C>A (p.Tyr1324Ter)
c.3897C>A (p.Tyr1299Ter)
c.3492C>A (p.Tyr1164Ter)
c.2850C>A (p.Tyr950Ter)
c.360C>A (p.Tyr120Ter)
n.4275C>A
10g.71732108C>GCA377156277C10orf105,CDH23c.3837C>G (p.Tyr1279Ter)
c.3834C>G (p.Tyr1278Ter)
c.3852C>G (p.Tyr1284Ter)
c.-6+5620G>C (n.-6+5620G>C)
n.529C>G
c.4032C>G (p.Tyr1344Ter)
c.3966C>G (p.Tyr1322Ter)
c.4026C>G (p.Tyr1342Ter)
c.3972C>G (p.Tyr1324Ter)
c.3897C>G (p.Tyr1299Ter)
c.3492C>G (p.Tyr1164Ter)
c.2850C>G (p.Tyr950Ter)
c.360C>G (p.Tyr120Ter)
n.4275C>G
dbSNP
10g.71732108C>TCA470283749C10orf105,CDH23c.3837C>T (p.Tyr1279=)
c.3834C>T (p.Tyr1278=)
c.3852C>T (p.Tyr1284=)
c.-6+5620G>A (n.-6+5620G>A)
n.529C>T
c.4032C>T (p.Tyr1344=)
c.3966C>T (p.Tyr1322=)
c.4026C>T (p.Tyr1342=)
c.3972C>T (p.Tyr1324=)
c.3897C>T (p.Tyr1299=)
c.3492C>T (p.Tyr1164=)
c.2850C>T (p.Tyr950=)
c.360C>T (p.Tyr120=)
n.4275C>T
10g.71732108_71732111delinsCATGCA1918849672C10orf105,CDH23c.3837_3840delinsCATG (p.Tyr1279=)
c.3834_3837delinsCATG (p.Tyr1278=)
c.3852_3855delinsCATG (p.Tyr1284=)
c.-6+5617_-6+5620delinsCATG (n.-6+5617_-6+5620delinsCATG)
n.529_532delinsCATG
c.4032_4035delinsCATG (p.Tyr1344=)
c.3966_3969delinsCATG (p.Tyr1322=)
c.4026_4029delinsCATG (p.Tyr1342=)
c.3972_3975delinsCATG (p.Tyr1324=)
c.3897_3900delinsCATG (p.Tyr1299=)
c.3492_3495delinsCATG (p.Tyr1164=)
c.2850_2853delinsCATG (p.Tyr950=)
c.360_363delinsCATG (p.Tyr120=)
n.4275_4278delinsCATG
10g.71732109A=CA1918849673C10orf105,CDH23c.3838A= (p.Met1280=)
c.3835A= (p.Met1279=)
c.3853A= (p.Met1285=)
c.-6+5619T= (n.-6+5619T=)
n.530A=
c.4033A= (p.Met1345=)
c.3967A= (p.Met1323=)
c.4027A= (p.Met1343=)
c.3973A= (p.Met1325=)
c.3898A= (p.Met1300=)
c.3493A= (p.Met1165=)
c.2851A= (p.Met951=)
c.361A= (p.Met121=)
n.4276A=
10g.71732109A>CCA209480499C10orf105,CDH23c.3838A>C (p.Met1280Leu)
c.3835A>C (p.Met1279Leu)
c.3853A>C (p.Met1285Leu)
c.-6+5619T>G (n.-6+5619T>G)
n.530A>C
c.4033A>C (p.Met1345Leu)
c.3967A>C (p.Met1323Leu)
c.4027A>C (p.Met1343Leu)
c.3973A>C (p.Met1325Leu)
c.3898A>C (p.Met1300Leu)
c.3493A>C (p.Met1165Leu)
c.2851A>C (p.Met951Leu)
c.361A>C (p.Met121Leu)
n.4276A>C
ClinVar dbSNP gnomAD v2
10g.71732109A>GCA377156290C10orf105,CDH23c.3838A>G (p.Met1280Val)
c.3835A>G (p.Met1279Val)
c.3853A>G (p.Met1285Val)
c.-6+5619T>C (n.-6+5619T>C)
n.530A>G
c.4033A>G (p.Met1345Val)
c.3967A>G (p.Met1323Val)
c.4027A>G (p.Met1343Val)
c.3973A>G (p.Met1325Val)
c.3898A>G (p.Met1300Val)
c.3493A>G (p.Met1165Val)
c.2851A>G (p.Met951Val)
c.361A>G (p.Met121Val)
n.4276A>G
COSMIC
10g.71732109A>TCA377156287C10orf105,CDH23c.3838A>T (p.Met1280Leu)
c.3835A>T (p.Met1279Leu)
c.3853A>T (p.Met1285Leu)
c.-6+5619T>A (n.-6+5619T>A)
n.530A>T
c.4033A>T (p.Met1345Leu)
c.3967A>T (p.Met1323Leu)
c.4027A>T (p.Met1343Leu)
c.3973A>T (p.Met1325Leu)
c.3898A>T (p.Met1300Leu)
c.3493A>T (p.Met1165Leu)
c.2851A>T (p.Met951Leu)
c.361A>T (p.Met121Leu)
n.4276A>T
dbSNP gnomAD v2 gnomAD v4
10g.71732113_71732115delCA253323C10orf105,CDH23c.3842_3844del (p.Met1281del)
c.3839_3841del (p.Met1280del)
c.3857_3859del (p.Met1286del)
c.-6+5617_-6+5619del (n.-6+5617_-6+5619del)
n.534_536del
c.4037_4039del (p.Met1346del)
c.3971_3973del (p.Met1324del)
c.4031_4033del (p.Met1344del)
c.3977_3979del (p.Met1326del)
c.3902_3904del (p.Met1301del)
c.3497_3499del (p.Met1166del)
c.2855_2857del (p.Met952del)
c.365_367del (p.Met122del)
n.4280_4282del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732110T>ACA5544854C10orf105,CDH23c.3839T>A (p.Met1280Lys)
c.3836T>A (p.Met1279Lys)
c.3854T>A (p.Met1285Lys)
c.-6+5618A>T (n.-6+5618A>T)
n.531T>A
c.4034T>A (p.Met1345Lys)
c.3968T>A (p.Met1323Lys)
c.4028T>A (p.Met1343Lys)
c.3974T>A (p.Met1325Lys)
c.3899T>A (p.Met1300Lys)
c.3494T>A (p.Met1165Lys)
c.2852T>A (p.Met951Lys)
c.362T>A (p.Met121Lys)
n.4277T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71732110T>CCA5544853C10orf105,CDH23c.3839T>C (p.Met1280Thr)
c.3836T>C (p.Met1279Thr)
c.3854T>C (p.Met1285Thr)
c.-6+5618A>G (n.-6+5618A>G)
n.531T>C
c.4034T>C (p.Met1345Thr)
c.3968T>C (p.Met1323Thr)
c.4028T>C (p.Met1343Thr)
c.3974T>C (p.Met1325Thr)
c.3899T>C (p.Met1300Thr)
c.3494T>C (p.Met1165Thr)
c.2852T>C (p.Met951Thr)
c.362T>C (p.Met121Thr)
n.4277T>C
dbSNP ExAC gnomAD v2 gnomAD v4
10g.71732110T>GCA377156294C10orf105,CDH23c.3839T>G (p.Met1280Arg)
c.3836T>G (p.Met1279Arg)
c.3854T>G (p.Met1285Arg)
c.-6+5618A>C (n.-6+5618A>C)
n.531T>G
c.4034T>G (p.Met1345Arg)
c.3968T>G (p.Met1323Arg)
c.4028T>G (p.Met1343Arg)
c.3974T>G (p.Met1325Arg)
c.3899T>G (p.Met1300Arg)
c.3494T>G (p.Met1165Arg)
c.2852T>G (p.Met951Arg)
c.362T>G (p.Met121Arg)
n.4277T>G
10g.71732110T=CA1918849674C10orf105,CDH23c.3839T= (p.Met1280=)
c.3836T= (p.Met1279=)
c.3854T= (p.Met1285=)
c.-6+5618A= (n.-6+5618A=)
n.531T=
c.4034T= (p.Met1345=)
c.3968T= (p.Met1323=)
c.4028T= (p.Met1343=)
c.3974T= (p.Met1325=)
c.3899T= (p.Met1300=)
c.3494T= (p.Met1165=)
c.2852T= (p.Met951=)
c.362T= (p.Met121=)
n.4277T=
10g.71732111G>ACA377156295C10orf105,CDH23c.3840G>A (p.Met1280Ile)
c.3837G>A (p.Met1279Ile)
c.3855G>A (p.Met1285Ile)
c.-6+5617C>T (n.-6+5617C>T)
n.532G>A
c.4035G>A (p.Met1345Ile)
c.3969G>A (p.Met1323Ile)
c.4029G>A (p.Met1343Ile)
c.3975G>A (p.Met1325Ile)
c.3900G>A (p.Met1300Ile)
c.3495G>A (p.Met1165Ile)
c.2853G>A (p.Met951Ile)
c.363G>A (p.Met121Ile)
n.4278G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.71732111G>CCA377156296C10orf105,CDH23c.3840G>C (p.Met1280Ile)
c.3837G>C (p.Met1279Ile)
c.3855G>C (p.Met1285Ile)
c.-6+5617C>G (n.-6+5617C>G)
n.532G>C
c.4035G>C (p.Met1345Ile)
c.3969G>C (p.Met1323Ile)
c.4029G>C (p.Met1343Ile)
c.3975G>C (p.Met1325Ile)
c.3900G>C (p.Met1300Ile)
c.3495G>C (p.Met1165Ile)
c.2853G>C (p.Met951Ile)
c.363G>C (p.Met121Ile)
n.4278G>C
dbSNP
10g.71732111G=CA1918849675C10orf105,CDH23c.3840G= (p.Met1280=)
c.3837G= (p.Met1279=)
c.3855G= (p.Met1285=)
c.-6+5617C= (n.-6+5617C=)
n.532G=
c.4035G= (p.Met1345=)
c.3969G= (p.Met1323=)
c.4029G= (p.Met1343=)
c.3975G= (p.Met1325=)
c.3900G= (p.Met1300=)
c.3495G= (p.Met1165=)
c.2853G= (p.Met951=)
c.363G= (p.Met121=)
n.4278G=
10g.71732111G>TCA377156299C10orf105,CDH23c.3840G>T (p.Met1280Ile)
c.3837G>T (p.Met1279Ile)
c.3855G>T (p.Met1285Ile)
c.-6+5617C>A (n.-6+5617C>A)
n.532G>T
c.4035G>T (p.Met1345Ile)
c.3969G>T (p.Met1323Ile)
c.4029G>T (p.Met1343Ile)
c.3975G>T (p.Met1325Ile)
c.3900G>T (p.Met1300Ile)
c.3495G>T (p.Met1165Ile)
c.2853G>T (p.Met951Ile)
c.363G>T (p.Met121Ile)
n.4278G>T
dbSNP
10g.71732112A>CCA377156304C10orf105,CDH23c.3841A>C (p.Met1281Leu)
c.3838A>C (p.Met1280Leu)
c.3856A>C (p.Met1286Leu)
c.-6+5616T>G (n.-6+5616T>G)
n.533A>C
c.4036A>C (p.Met1346Leu)
c.3970A>C (p.Met1324Leu)
c.4030A>C (p.Met1344Leu)
c.3976A>C (p.Met1326Leu)
c.3901A>C (p.Met1301Leu)
c.3496A>C (p.Met1166Leu)
c.2854A>C (p.Met952Leu)
c.364A>C (p.Met122Leu)
n.4279A>C
10g.71732112A>GCA377156305C10orf105,CDH23c.3841A>G (p.Met1281Val)
c.3838A>G (p.Met1280Val)
c.3856A>G (p.Met1286Val)
c.-6+5616T>C (n.-6+5616T>C)
n.533A>G
c.4036A>G (p.Met1346Val)
c.3970A>G (p.Met1324Val)
c.4030A>G (p.Met1344Val)
c.3976A>G (p.Met1326Val)
c.3901A>G (p.Met1301Val)
c.3496A>G (p.Met1166Val)
c.2854A>G (p.Met952Val)
c.364A>G (p.Met122Val)
n.4279A>G
10g.71732112A>TCA377156307C10orf105,CDH23c.3841A>T (p.Met1281Leu)
c.3838A>T (p.Met1280Leu)
c.3856A>T (p.Met1286Leu)
c.-6+5616T>A (n.-6+5616T>A)
n.533A>T
c.4036A>T (p.Met1346Leu)
c.3970A>T (p.Met1324Leu)
c.4030A>T (p.Met1344Leu)
c.3976A>T (p.Met1326Leu)
c.3901A>T (p.Met1301Leu)
c.3496A>T (p.Met1166Leu)
c.2854A>T (p.Met952Leu)
c.364A>T (p.Met122Leu)
n.4279A>T
10g.71732115_71732118dupCA2609568448C10orf105,CDH23c.3844_3847dup (p.Val1283GlufsTer6)
c.3841_3844dup (p.Val1282GlufsTer6)
c.3859_3862dup (p.Val1288GlufsTer6)
c.-6+5613_-6+5616dup (n.-6+5613_-6+5616dup)
n.536_539dup
c.4039_4042dup (p.Val1348GlufsTer6)
c.3973_3976dup (p.Val1326GlufsTer6)
c.4033_4036dup (p.Val1346GlufsTer6)
c.3979_3982dup (p.Val1328GlufsTer6)
c.3904_3907dup (p.Val1303GlufsTer6)
c.3499_3502dup (p.Val1168GlufsTer6)
c.2857_2860dup (p.Val954GlufsTer6)
c.367_370dup (p.Val124GlufsTer6)
n.4282_4285dup
gnomAD v4
10g.71732113T>ACA377156313C10orf105,CDH23c.3842T>A (p.Met1281Lys)
c.3839T>A (p.Met1280Lys)
c.3857T>A (p.Met1286Lys)
c.-6+5615A>T (n.-6+5615A>T)
n.534T>A
c.4037T>A (p.Met1346Lys)
c.3971T>A (p.Met1324Lys)
c.4031T>A (p.Met1344Lys)
c.3977T>A (p.Met1326Lys)
c.3902T>A (p.Met1301Lys)
c.3497T>A (p.Met1166Lys)
c.2855T>A (p.Met952Lys)
c.365T>A (p.Met122Lys)
n.4280T>A
10g.71732113T>CCA377156315C10orf105,CDH23c.3842T>C (p.Met1281Thr)
c.3839T>C (p.Met1280Thr)
c.3857T>C (p.Met1286Thr)
c.-6+5615A>G (n.-6+5615A>G)
n.534T>C
c.4037T>C (p.Met1346Thr)
c.3971T>C (p.Met1324Thr)
c.4031T>C (p.Met1344Thr)
c.3977T>C (p.Met1326Thr)
c.3902T>C (p.Met1301Thr)
c.3497T>C (p.Met1166Thr)
c.2855T>C (p.Met952Thr)
c.365T>C (p.Met122Thr)
n.4280T>C
ClinVar dbSNP
10g.71732113T>GCA377156318C10orf105,CDH23c.3842T>G (p.Met1281Arg)
c.3839T>G (p.Met1280Arg)
c.3857T>G (p.Met1286Arg)
c.-6+5615A>C (n.-6+5615A>C)
n.534T>G
c.4037T>G (p.Met1346Arg)
c.3971T>G (p.Met1324Arg)
c.4031T>G (p.Met1344Arg)
c.3977T>G (p.Met1326Arg)
c.3902T>G (p.Met1301Arg)
c.3497T>G (p.Met1166Arg)
c.2855T>G (p.Met952Arg)
c.365T>G (p.Met122Arg)
n.4280T>G
10g.71732114G>ACA377156323C10orf105,CDH23c.3843G>A (p.Met1281Ile)
c.3840G>A (p.Met1280Ile)
c.3858G>A (p.Met1286Ile)
c.-6+5614C>T (n.-6+5614C>T)
n.535G>A
c.4038G>A (p.Met1346Ile)
c.3972G>A (p.Met1324Ile)
c.4032G>A (p.Met1344Ile)
c.3978G>A (p.Met1326Ile)
c.3903G>A (p.Met1301Ile)
c.3498G>A (p.Met1166Ile)
c.2856G>A (p.Met952Ile)
c.366G>A (p.Met122Ile)
n.4281G>A
dbSNP
10g.71732114G>CCA377156324C10orf105,CDH23c.3843G>C (p.Met1281Ile)
c.3840G>C (p.Met1280Ile)
c.3858G>C (p.Met1286Ile)
c.-6+5614C>G (n.-6+5614C>G)
n.535G>C
c.4038G>C (p.Met1346Ile)
c.3972G>C (p.Met1324Ile)
c.4032G>C (p.Met1344Ile)
c.3978G>C (p.Met1326Ile)
c.3903G>C (p.Met1301Ile)
c.3498G>C (p.Met1166Ile)
c.2856G>C (p.Met952Ile)
c.366G>C (p.Met122Ile)
n.4281G>C
10g.71732114G=CA1918849676C10orf105,CDH23c.3843G= (p.Met1281=)
c.3840G= (p.Met1280=)
c.3858G= (p.Met1286=)
c.-6+5614C= (n.-6+5614C=)
n.535G=
c.4038G= (p.Met1346=)
c.3972G= (p.Met1324=)
c.4032G= (p.Met1344=)
c.3978G= (p.Met1326=)
c.3903G= (p.Met1301=)
c.3498G= (p.Met1166=)
c.2856G= (p.Met952=)
c.366G= (p.Met122=)
n.4281G=
10g.71732114G>TCA377156325C10orf105,CDH23c.3843G>T (p.Met1281Ile)
c.3840G>T (p.Met1280Ile)
c.3858G>T (p.Met1286Ile)
c.-6+5614C>A (n.-6+5614C>A)
n.535G>T
c.4038G>T (p.Met1346Ile)
c.3972G>T (p.Met1324Ile)
c.4032G>T (p.Met1344Ile)
c.3978G>T (p.Met1326Ile)
c.3903G>T (p.Met1301Ile)
c.3498G>T (p.Met1166Ile)
c.2856G>T (p.Met952Ile)
c.366G>T (p.Met122Ile)
n.4281G>T
10g.71732115A>CCA377156329C10orf105,CDH23c.3844A>C (p.Asn1282His)
c.3841A>C (p.Asn1281His)
c.3859A>C (p.Asn1287His)
c.-6+5613T>G (n.-6+5613T>G)
n.536A>C
c.4039A>C (p.Asn1347His)
c.3973A>C (p.Asn1325His)
c.4033A>C (p.Asn1345His)
c.3979A>C (p.Asn1327His)
c.3904A>C (p.Asn1302His)
c.3499A>C (p.Asn1167His)
c.2857A>C (p.Asn953His)
c.367A>C (p.Asn123His)
n.4282A>C
10g.71732115A>GCA377156327C10orf105,CDH23c.3844A>G (p.Asn1282Asp)
c.3841A>G (p.Asn1281Asp)
c.3859A>G (p.Asn1287Asp)
c.-6+5613T>C (n.-6+5613T>C)
n.536A>G
c.4039A>G (p.Asn1347Asp)
c.3973A>G (p.Asn1325Asp)
c.4033A>G (p.Asn1345Asp)
c.3979A>G (p.Asn1327Asp)
c.3904A>G (p.Asn1302Asp)
c.3499A>G (p.Asn1167Asp)
c.2857A>G (p.Asn953Asp)
c.367A>G (p.Asn123Asp)
n.4282A>G
gnomAD v4
10g.71732115A>TCA377156328C10orf105,CDH23c.3844A>T (p.Asn1282Tyr)
c.3841A>T (p.Asn1281Tyr)
c.3859A>T (p.Asn1287Tyr)
c.-6+5613T>A (n.-6+5613T>A)
n.536A>T
c.4039A>T (p.Asn1347Tyr)
c.3973A>T (p.Asn1325Tyr)
c.4033A>T (p.Asn1345Tyr)
c.3979A>T (p.Asn1327Tyr)
c.3904A>T (p.Asn1302Tyr)
c.3499A>T (p.Asn1167Tyr)
c.2857A>T (p.Asn953Tyr)
c.367A>T (p.Asn123Tyr)
n.4282A>T
10g.71732116A=CA1918849677C10orf105,CDH23c.3845A= (p.Asn1282=)
c.3842A= (p.Asn1281=)
c.3860A= (p.Asn1287=)
c.-6+5612T= (n.-6+5612T=)
n.537A=
c.4040A= (p.Asn1347=)
c.3974A= (p.Asn1325=)
c.4034A= (p.Asn1345=)
c.3980A= (p.Asn1327=)
c.3905A= (p.Asn1302=)
c.3500A= (p.Asn1167=)
c.2858A= (p.Asn953=)
c.368A= (p.Asn123=)
n.4283A=
10g.71732116A>CCA377156337C10orf105,CDH23c.3845A>C (p.Asn1282Thr)
c.3842A>C (p.Asn1281Thr)
c.3860A>C (p.Asn1287Thr)
c.-6+5612T>G (n.-6+5612T>G)
n.537A>C
c.4040A>C (p.Asn1347Thr)
c.3974A>C (p.Asn1325Thr)
c.4034A>C (p.Asn1345Thr)
c.3980A>C (p.Asn1327Thr)
c.3905A>C (p.Asn1302Thr)
c.3500A>C (p.Asn1167Thr)
c.2858A>C (p.Asn953Thr)
c.368A>C (p.Asn123Thr)
n.4283A>C
10g.71732116A>GCA137396C10orf105,CDH23c.3845A>G (p.Asn1282Ser)
c.3842A>G (p.Asn1281Ser)
c.3860A>G (p.Asn1287Ser)
c.-6+5612T>C (n.-6+5612T>C)
n.537A>G
c.4040A>G (p.Asn1347Ser)
c.3974A>G (p.Asn1325Ser)
c.4034A>G (p.Asn1345Ser)
c.3980A>G (p.Asn1327Ser)
c.3905A>G (p.Asn1302Ser)
c.3500A>G (p.Asn1167Ser)
c.2858A>G (p.Asn953Ser)
c.368A>G (p.Asn123Ser)
n.4283A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732116A>TCA377156340C10orf105,CDH23c.3845A>T (p.Asn1282Ile)
c.3842A>T (p.Asn1281Ile)
c.3860A>T (p.Asn1287Ile)
c.-6+5612T>A (n.-6+5612T>A)
n.537A>T
c.4040A>T (p.Asn1347Ile)
c.3974A>T (p.Asn1325Ile)
c.4034A>T (p.Asn1345Ile)
c.3980A>T (p.Asn1327Ile)
c.3905A>T (p.Asn1302Ile)
c.3500A>T (p.Asn1167Ile)
c.2858A>T (p.Asn953Ile)
c.368A>T (p.Asn123Ile)
n.4283A>T
10g.71732117T>ACA377156341C10orf105,CDH23c.3846T>A (p.Asn1282Lys)
c.3843T>A (p.Asn1281Lys)
c.3861T>A (p.Asn1287Lys)
c.-6+5611A>T (n.-6+5611A>T)
n.538T>A
c.4041T>A (p.Asn1347Lys)
c.3975T>A (p.Asn1325Lys)
c.4035T>A (p.Asn1345Lys)
c.3981T>A (p.Asn1327Lys)
c.3906T>A (p.Asn1302Lys)
c.3501T>A (p.Asn1167Lys)
c.2859T>A (p.Asn953Lys)
c.369T>A (p.Asn123Lys)
n.4284T>A
10g.71732117T>CCA470283751C10orf105,CDH23c.3846T>C (p.Asn1282=)
c.3843T>C (p.Asn1281=)
c.3861T>C (p.Asn1287=)
c.-6+5611A>G (n.-6+5611A>G)
n.538T>C
c.4041T>C (p.Asn1347=)
c.3975T>C (p.Asn1325=)
c.4035T>C (p.Asn1345=)
c.3981T>C (p.Asn1327=)
c.3906T>C (p.Asn1302=)
c.3501T>C (p.Asn1167=)
c.2859T>C (p.Asn953=)
c.369T>C (p.Asn123=)
n.4284T>C
10g.71732117T>GCA377156343C10orf105,CDH23c.3846T>G (p.Asn1282Lys)
c.3843T>G (p.Asn1281Lys)
c.3861T>G (p.Asn1287Lys)
c.-6+5611A>C (n.-6+5611A>C)
n.538T>G
c.4041T>G (p.Asn1347Lys)
c.3975T>G (p.Asn1325Lys)
c.4035T>G (p.Asn1345Lys)
c.3981T>G (p.Asn1327Lys)
c.3906T>G (p.Asn1302Lys)
c.3501T>G (p.Asn1167Lys)
c.2859T>G (p.Asn953Lys)
c.369T>G (p.Asn123Lys)
n.4284T>G
10g.71732118G>ACA5544855C10orf105,CDH23c.3847G>A (p.Val1283Met)
c.3844G>A (p.Val1282Met)
c.3862G>A (p.Val1288Met)
c.-6+5610C>T (n.-6+5610C>T)
n.539G>A
c.4042G>A (p.Val1348Met)
c.3976G>A (p.Val1326Met)
c.4036G>A (p.Val1346Met)
c.3982G>A (p.Val1328Met)
c.3907G>A (p.Val1303Met)
c.3502G>A (p.Val1168Met)
c.2860G>A (p.Val954Met)
c.370G>A (p.Val124Met)
n.4285G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.71732118G>CCA377156352C10orf105,CDH23c.3847G>C (p.Val1283Leu)
c.3844G>C (p.Val1282Leu)
c.3862G>C (p.Val1288Leu)
c.-6+5610C>G (n.-6+5610C>G)
n.539G>C
c.4042G>C (p.Val1348Leu)
c.3976G>C (p.Val1326Leu)
c.4036G>C (p.Val1346Leu)
c.3982G>C (p.Val1328Leu)
c.3907G>C (p.Val1303Leu)
c.3502G>C (p.Val1168Leu)
c.2860G>C (p.Val954Leu)
c.370G>C (p.Val124Leu)
n.4285G>C
10g.71732118G=CA1918849678C10orf105,CDH23c.3847G= (p.Val1283=)
c.3844G= (p.Val1282=)
c.3862G= (p.Val1288=)
c.-6+5610C= (n.-6+5610C=)
n.539G=
c.4042G= (p.Val1348=)
c.3976G= (p.Val1326=)
c.4036G= (p.Val1346=)
c.3982G= (p.Val1328=)
c.3907G= (p.Val1303=)
c.3502G= (p.Val1168=)
c.2860G= (p.Val954=)
c.370G= (p.Val124=)
n.4285G=
10g.71732118G>TCA377156355C10orf105,CDH23c.3847G>T (p.Val1283Leu)
c.3844G>T (p.Val1282Leu)
c.3862G>T (p.Val1288Leu)
c.-6+5610C>A (n.-6+5610C>A)
n.539G>T
c.4042G>T (p.Val1348Leu)
c.3976G>T (p.Val1326Leu)
c.4036G>T (p.Val1346Leu)
c.3982G>T (p.Val1328Leu)
c.3907G>T (p.Val1303Leu)
c.3502G>T (p.Val1168Leu)
c.2860G>T (p.Val954Leu)
c.370G>T (p.Val124Leu)
n.4285G>T
dbSNP gnomAD v4
10g.71732119T>ACA377156357C10orf105,CDH23c.3848T>A (p.Val1283Glu)
c.3845T>A (p.Val1282Glu)
c.3863T>A (p.Val1288Glu)
c.-6+5609A>T (n.-6+5609A>T)
n.540T>A
c.4043T>A (p.Val1348Glu)
c.3977T>A (p.Val1326Glu)
c.4037T>A (p.Val1346Glu)
c.3983T>A (p.Val1328Glu)
c.3908T>A (p.Val1303Glu)
c.3503T>A (p.Val1168Glu)
c.2861T>A (p.Val954Glu)
c.371T>A (p.Val124Glu)
n.4286T>A
10g.71732119T>CCA377156359C10orf105,CDH23c.3848T>C (p.Val1283Ala)
c.3845T>C (p.Val1282Ala)
c.3863T>C (p.Val1288Ala)
c.-6+5609A>G (n.-6+5609A>G)
n.540T>C
c.4043T>C (p.Val1348Ala)
c.3977T>C (p.Val1326Ala)
c.4037T>C (p.Val1346Ala)
c.3983T>C (p.Val1328Ala)
c.3908T>C (p.Val1303Ala)
c.3503T>C (p.Val1168Ala)
c.2861T>C (p.Val954Ala)
c.371T>C (p.Val124Ala)
n.4286T>C
10g.71732119T>GCA377156360C10orf105,CDH23c.3848T>G (p.Val1283Gly)
c.3845T>G (p.Val1282Gly)
c.3863T>G (p.Val1288Gly)
c.-6+5609A>C (n.-6+5609A>C)
n.540T>G
c.4043T>G (p.Val1348Gly)
c.3977T>G (p.Val1326Gly)
c.4037T>G (p.Val1346Gly)
c.3983T>G (p.Val1328Gly)
c.3908T>G (p.Val1303Gly)
c.3503T>G (p.Val1168Gly)
c.2861T>G (p.Val954Gly)
c.371T>G (p.Val124Gly)
n.4286T>G
10g.71732120G>ACA470283814C10orf105,CDH23c.3849G>A (p.Val1283=)
c.3846G>A (p.Val1282=)
c.3864G>A (p.Val1288=)
c.-6+5608C>T (n.-6+5608C>T)
n.541G>A
c.4044G>A (p.Val1348=)
c.3978G>A (p.Val1326=)
c.4038G>A (p.Val1346=)
c.3984G>A (p.Val1328=)
c.3909G>A (p.Val1303=)
c.3504G>A (p.Val1168=)
c.2862G>A (p.Val954=)
c.372G>A (p.Val124=)
n.4287G>A
10g.71732120G>CCA470283812C10orf105,CDH23c.3849G>C (p.Val1283=)
c.3846G>C (p.Val1282=)
c.3864G>C (p.Val1288=)
c.-6+5608C>G (n.-6+5608C>G)
n.541G>C
c.4044G>C (p.Val1348=)
c.3978G>C (p.Val1326=)
c.4038G>C (p.Val1346=)
c.3984G>C (p.Val1328=)
c.3909G>C (p.Val1303=)
c.3504G>C (p.Val1168=)
c.2862G>C (p.Val954=)
c.372G>C (p.Val124=)
n.4287G>C
10g.71732120G=CA1918849679C10orf105,CDH23c.3849G= (p.Val1283=)
c.3846G= (p.Val1282=)
c.3864G= (p.Val1288=)
c.-6+5608C= (n.-6+5608C=)
n.541G=
c.4044G= (p.Val1348=)
c.3978G= (p.Val1326=)
c.4038G= (p.Val1346=)
c.3984G= (p.Val1328=)
c.3909G= (p.Val1303=)
c.3504G= (p.Val1168=)
c.2862G= (p.Val954=)
c.372G= (p.Val124=)
n.4287G=
10g.71732120G>TCA470283811C10orf105,CDH23c.3849G>T (p.Val1283=)
c.3846G>T (p.Val1282=)
c.3864G>T (p.Val1288=)
c.-6+5608C>A (n.-6+5608C>A)
n.541G>T
c.4044G>T (p.Val1348=)
c.3978G>T (p.Val1326=)
c.4038G>T (p.Val1346=)
c.3984G>T (p.Val1328=)
c.3909G>T (p.Val1303=)
c.3504G>T (p.Val1168=)
c.2862G>T (p.Val954=)
c.372G>T (p.Val124=)
n.4287G>T
ClinVar dbSNP
10g.71732121T>ACA377156361C10orf105,CDH23c.3850T>A (p.Ser1284Thr)
c.3847T>A (p.Ser1283Thr)
c.3865T>A (p.Ser1289Thr)
c.-6+5607A>T (n.-6+5607A>T)
n.542T>A
c.4045T>A (p.Ser1349Thr)
c.3979T>A (p.Ser1327Thr)
c.4039T>A (p.Ser1347Thr)
c.3985T>A (p.Ser1329Thr)
c.3910T>A (p.Ser1304Thr)
c.3505T>A (p.Ser1169Thr)
c.2863T>A (p.Ser955Thr)
c.373T>A (p.Ser125Thr)
n.4288T>A
10g.71732121T>CCA377156366C10orf105,CDH23c.3850T>C (p.Ser1284Pro)
c.3847T>C (p.Ser1283Pro)
c.3865T>C (p.Ser1289Pro)
c.-6+5607A>G (n.-6+5607A>G)
n.542T>C
c.4045T>C (p.Ser1349Pro)
c.3979T>C (p.Ser1327Pro)
c.4039T>C (p.Ser1347Pro)
c.3985T>C (p.Ser1329Pro)
c.3910T>C (p.Ser1304Pro)
c.3505T>C (p.Ser1169Pro)
c.2863T>C (p.Ser955Pro)
c.373T>C (p.Ser125Pro)
n.4288T>C
10g.71732121T>GCA377156363C10orf105,CDH23c.3850T>G (p.Ser1284Ala)
c.3847T>G (p.Ser1283Ala)
c.3865T>G (p.Ser1289Ala)
c.-6+5607A>C (n.-6+5607A>C)
n.542T>G
c.4045T>G (p.Ser1349Ala)
c.3979T>G (p.Ser1327Ala)
c.4039T>G (p.Ser1347Ala)
c.3985T>G (p.Ser1329Ala)
c.3910T>G (p.Ser1304Ala)
c.3505T>G (p.Ser1169Ala)
c.2863T>G (p.Ser955Ala)
c.373T>G (p.Ser125Ala)
n.4288T>G
10g.71732122C>ACA377156368C10orf105,CDH23c.3851C>A (p.Ser1284Ter)
c.3848C>A (p.Ser1283Ter)
c.3866C>A (p.Ser1289Ter)
c.-6+5606G>T (n.-6+5606G>T)
n.543C>A
c.4046C>A (p.Ser1349Ter)
c.3980C>A (p.Ser1327Ter)
c.4040C>A (p.Ser1347Ter)
c.3986C>A (p.Ser1329Ter)
c.3911C>A (p.Ser1304Ter)
c.3506C>A (p.Ser1169Ter)
c.2864C>A (p.Ser955Ter)
c.374C>A (p.Ser125Ter)
n.4289C>A
gnomAD v4
10g.71732122C=CA1918849680C10orf105,CDH23c.3851C= (p.Ser1284=)
c.3848C= (p.Ser1283=)
c.3866C= (p.Ser1289=)
c.-6+5606G= (n.-6+5606G=)
n.543C=
c.4046C= (p.Ser1349=)
c.3980C= (p.Ser1327=)
c.4040C= (p.Ser1347=)
c.3986C= (p.Ser1329=)
c.3911C= (p.Ser1304=)
c.3506C= (p.Ser1169=)
c.2864C= (p.Ser955=)
c.374C= (p.Ser125=)
n.4289C=
10g.71732122C>GCA377156369C10orf105,CDH23c.3851C>G (p.Ser1284Trp)
c.3848C>G (p.Ser1283Trp)
c.3866C>G (p.Ser1289Trp)
c.-6+5606G>C (n.-6+5606G>C)
n.543C>G
c.4046C>G (p.Ser1349Trp)
c.3980C>G (p.Ser1327Trp)
c.4040C>G (p.Ser1347Trp)
c.3986C>G (p.Ser1329Trp)
c.3911C>G (p.Ser1304Trp)
c.3506C>G (p.Ser1169Trp)
c.2864C>G (p.Ser955Trp)
c.374C>G (p.Ser125Trp)
n.4289C>G
gnomAD v4
10g.71732122C>TCA377156371C10orf105,CDH23c.3851C>T (p.Ser1284Leu)
c.3848C>T (p.Ser1283Leu)
c.3866C>T (p.Ser1289Leu)
c.-6+5606G>A (n.-6+5606G>A)
n.543C>T
c.4046C>T (p.Ser1349Leu)
c.3980C>T (p.Ser1327Leu)
c.4040C>T (p.Ser1347Leu)
c.3986C>T (p.Ser1329Leu)
c.3911C>T (p.Ser1304Leu)
c.3506C>T (p.Ser1169Leu)
c.2864C>T (p.Ser955Leu)
c.374C>T (p.Ser125Leu)
n.4289C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.71732123G>ACA5544856C10orf105,CDH23c.3852G>A (p.Ser1284=)
c.3849G>A (p.Ser1283=)
c.3867G>A (p.Ser1289=)
c.-6+5605C>T (n.-6+5605C>T)
n.544G>A
c.4047G>A (p.Ser1349=)
c.3981G>A (p.Ser1327=)
c.4041G>A (p.Ser1347=)
c.3987G>A (p.Ser1329=)
c.3912G>A (p.Ser1304=)
c.3507G>A (p.Ser1169=)
c.2865G>A (p.Ser955=)
c.375G>A (p.Ser125=)
n.4290G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732123G>CCA5544857C10orf105,CDH23c.3852G>C (p.Ser1284=)
c.3849G>C (p.Ser1283=)
c.3867G>C (p.Ser1289=)
c.-6+5605C>G (n.-6+5605C>G)
n.544G>C
c.4047G>C (p.Ser1349=)
c.3981G>C (p.Ser1327=)
c.4041G>C (p.Ser1347=)
c.3987G>C (p.Ser1329=)
c.3912G>C (p.Ser1304=)
c.3507G>C (p.Ser1169=)
c.2865G>C (p.Ser955=)
c.375G>C (p.Ser125=)
n.4290G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732123G=CA1918849681C10orf105,CDH23c.3852G= (p.Ser1284=)
c.3849G= (p.Ser1283=)
c.3867G= (p.Ser1289=)
c.-6+5605C= (n.-6+5605C=)
n.544G=
c.4047G= (p.Ser1349=)
c.3981G= (p.Ser1327=)
c.4041G= (p.Ser1347=)
c.3987G= (p.Ser1329=)
c.3912G= (p.Ser1304=)
c.3507G= (p.Ser1169=)
c.2865G= (p.Ser955=)
c.375G= (p.Ser125=)
n.4290G=
10g.71732123G>TCA470283816C10orf105,CDH23c.3852G>T (p.Ser1284=)
c.3849G>T (p.Ser1283=)
c.3867G>T (p.Ser1289=)
c.-6+5605C>A (n.-6+5605C>A)
n.544G>T
c.4047G>T (p.Ser1349=)
c.3981G>T (p.Ser1327=)
c.4041G>T (p.Ser1347=)
c.3987G>T (p.Ser1329=)
c.3912G>T (p.Ser1304=)
c.3507G>T (p.Ser1169=)
c.2865G>T (p.Ser955=)
c.375G>T (p.Ser125=)
n.4290G>T
ClinVar dbSNP
10g.71732124G>ACA377156373C10orf105,CDH23c.3853G>A (p.Ala1285Thr)
c.3850G>A (p.Ala1284Thr)
c.3868G>A (p.Ala1290Thr)
c.-6+5604C>T (n.-6+5604C>T)
n.545G>A
c.4048G>A (p.Ala1350Thr)
c.3982G>A (p.Ala1328Thr)
c.4042G>A (p.Ala1348Thr)
c.3988G>A (p.Ala1330Thr)
c.3913G>A (p.Ala1305Thr)
c.3508G>A (p.Ala1170Thr)
c.2866G>A (p.Ala956Thr)
c.376G>A (p.Ala126Thr)
n.4291G>A
dbSNP gnomAD v3 gnomAD v4
10g.71732124G>CCA377156374C10orf105,CDH23c.3853G>C (p.Ala1285Pro)
c.3850G>C (p.Ala1284Pro)
c.3868G>C (p.Ala1290Pro)
c.-6+5604C>G (n.-6+5604C>G)
n.545G>C
c.4048G>C (p.Ala1350Pro)
c.3982G>C (p.Ala1328Pro)
c.4042G>C (p.Ala1348Pro)
c.3988G>C (p.Ala1330Pro)
c.3913G>C (p.Ala1305Pro)
c.3508G>C (p.Ala1170Pro)
c.2866G>C (p.Ala956Pro)
c.376G>C (p.Ala126Pro)
n.4291G>C
dbSNP
10g.71732124G=CA1918849682C10orf105,CDH23c.3853G= (p.Ala1285=)
c.3850G= (p.Ala1284=)
c.3868G= (p.Ala1290=)
c.-6+5604C= (n.-6+5604C=)
n.545G=
c.4048G= (p.Ala1350=)
c.3982G= (p.Ala1328=)
c.4042G= (p.Ala1348=)
c.3988G= (p.Ala1330=)
c.3913G= (p.Ala1305=)
c.3508G= (p.Ala1170=)
c.2866G= (p.Ala956=)
c.376G= (p.Ala126=)
n.4291G=
10g.71732124G>TCA377156375C10orf105,CDH23c.3853G>T (p.Ala1285Ser)
c.3850G>T (p.Ala1284Ser)
c.3868G>T (p.Ala1290Ser)
c.-6+5604C>A (n.-6+5604C>A)
n.545G>T
c.4048G>T (p.Ala1350Ser)
c.3982G>T (p.Ala1328Ser)
c.4042G>T (p.Ala1348Ser)
c.3988G>T (p.Ala1330Ser)
c.3913G>T (p.Ala1305Ser)
c.3508G>T (p.Ala1170Ser)
c.2866G>T (p.Ala956Ser)
c.376G>T (p.Ala126Ser)
n.4291G>T
10g.71732125C>ACA377156377C10orf105,CDH23c.3854C>A (p.Ala1285Asp)
c.3851C>A (p.Ala1284Asp)
c.3869C>A (p.Ala1290Asp)
c.-6+5603G>T (n.-6+5603G>T)
n.546C>A
c.4049C>A (p.Ala1350Asp)
c.3983C>A (p.Ala1328Asp)
c.4043C>A (p.Ala1348Asp)
c.3989C>A (p.Ala1330Asp)
c.3914C>A (p.Ala1305Asp)
c.3509C>A (p.Ala1170Asp)
c.2867C>A (p.Ala956Asp)
c.377C>A (p.Ala126Asp)
n.4292C>A
10g.71732125C>GCA377156378C10orf105,CDH23c.3854C>G (p.Ala1285Gly)
c.3851C>G (p.Ala1284Gly)
c.3869C>G (p.Ala1290Gly)
c.-6+5603G>C (n.-6+5603G>C)
n.546C>G
c.4049C>G (p.Ala1350Gly)
c.3983C>G (p.Ala1328Gly)
c.4043C>G (p.Ala1348Gly)
c.3989C>G (p.Ala1330Gly)
c.3914C>G (p.Ala1305Gly)
c.3509C>G (p.Ala1170Gly)
c.2867C>G (p.Ala956Gly)
c.377C>G (p.Ala126Gly)
n.4292C>G
dbSNP
10g.71732125C>TCA377156380C10orf105,CDH23c.3854C>T (p.Ala1285Val)
c.3851C>T (p.Ala1284Val)
c.3869C>T (p.Ala1290Val)
c.-6+5603G>A (n.-6+5603G>A)
n.546C>T
c.4049C>T (p.Ala1350Val)
c.3983C>T (p.Ala1328Val)
c.4043C>T (p.Ala1348Val)
c.3989C>T (p.Ala1330Val)
c.3914C>T (p.Ala1305Val)
c.3509C>T (p.Ala1170Val)
c.2867C>T (p.Ala956Val)
c.377C>T (p.Ala126Val)
n.4292C>T
dbSNP
10g.71732126C>ACA470283822C10orf105,CDH23c.3855C>A (p.Ala1285=)
c.3852C>A (p.Ala1284=)
c.3870C>A (p.Ala1290=)
c.-6+5602G>T (n.-6+5602G>T)
n.547C>A
c.4050C>A (p.Ala1350=)
c.3984C>A (p.Ala1328=)
c.4044C>A (p.Ala1348=)
c.3990C>A (p.Ala1330=)
c.3915C>A (p.Ala1305=)
c.3510C>A (p.Ala1170=)
c.2868C>A (p.Ala956=)
c.378C>A (p.Ala126=)
n.4293C>A
10g.71732126C>GCA470283819C10orf105,CDH23c.3855C>G (p.Ala1285=)
c.3852C>G (p.Ala1284=)
c.3870C>G (p.Ala1290=)
c.-6+5602G>C (n.-6+5602G>C)
n.547C>G
c.4050C>G (p.Ala1350=)
c.3984C>G (p.Ala1328=)
c.4044C>G (p.Ala1348=)
c.3990C>G (p.Ala1330=)
c.3915C>G (p.Ala1305=)
c.3510C>G (p.Ala1170=)
c.2868C>G (p.Ala956=)
c.378C>G (p.Ala126=)
n.4293C>G
10g.71732126C>TCA470283821C10orf105,CDH23c.3855C>T (p.Ala1285=)
c.3852C>T (p.Ala1284=)
c.3870C>T (p.Ala1290=)
c.-6+5602G>A (n.-6+5602G>A)
n.547C>T
c.4050C>T (p.Ala1350=)
c.3984C>T (p.Ala1328=)
c.4044C>T (p.Ala1348=)
c.3990C>T (p.Ala1330=)
c.3915C>T (p.Ala1305=)
c.3510C>T (p.Ala1170=)
c.2868C>T (p.Ala956=)
c.378C>T (p.Ala126=)
n.4293C>T
ClinVar
10g.71732127A>CCA377156384C10orf105,CDH23c.3856A>C (p.Thr1286Pro)
c.3853A>C (p.Thr1285Pro)
c.3871A>C (p.Thr1291Pro)
c.-6+5601T>G (n.-6+5601T>G)
n.548A>C
c.4051A>C (p.Thr1351Pro)
c.3985A>C (p.Thr1329Pro)
c.4045A>C (p.Thr1349Pro)
c.3991A>C (p.Thr1331Pro)
c.3916A>C (p.Thr1306Pro)
c.3511A>C (p.Thr1171Pro)
c.2869A>C (p.Thr957Pro)
c.379A>C (p.Thr127Pro)
n.4294A>C
10g.71732127A>GCA377156382C10orf105,CDH23c.3856A>G (p.Thr1286Ala)
c.3853A>G (p.Thr1285Ala)
c.3871A>G (p.Thr1291Ala)
c.-6+5601T>C (n.-6+5601T>C)
n.548A>G
c.4051A>G (p.Thr1351Ala)
c.3985A>G (p.Thr1329Ala)
c.4045A>G (p.Thr1349Ala)
c.3991A>G (p.Thr1331Ala)
c.3916A>G (p.Thr1306Ala)
c.3511A>G (p.Thr1171Ala)
c.2869A>G (p.Thr957Ala)
c.379A>G (p.Thr127Ala)
n.4294A>G
10g.71732127A>TCA377156383C10orf105,CDH23c.3856A>T (p.Thr1286Ser)
c.3853A>T (p.Thr1285Ser)
c.3871A>T (p.Thr1291Ser)
c.-6+5601T>A (n.-6+5601T>A)
n.548A>T
c.4051A>T (p.Thr1351Ser)
c.3985A>T (p.Thr1329Ser)
c.4045A>T (p.Thr1349Ser)
c.3991A>T (p.Thr1331Ser)
c.3916A>T (p.Thr1306Ser)
c.3511A>T (p.Thr1171Ser)
c.2869A>T (p.Thr957Ser)
c.379A>T (p.Thr127Ser)
n.4294A>T
10g.71732128C>ACA377156385C10orf105,CDH23c.3857C>A (p.Thr1286Asn)
c.3854C>A (p.Thr1285Asn)
c.3872C>A (p.Thr1291Asn)
c.-6+5600G>T (n.-6+5600G>T)
n.549C>A
c.4052C>A (p.Thr1351Asn)
c.3986C>A (p.Thr1329Asn)
c.4046C>A (p.Thr1349Asn)
c.3992C>A (p.Thr1331Asn)
c.3917C>A (p.Thr1306Asn)
c.3512C>A (p.Thr1171Asn)
c.2870C>A (p.Thr957Asn)
c.380C>A (p.Thr127Asn)
n.4295C>A
10g.71732128C=CA1918849683C10orf105,CDH23c.3857C= (p.Thr1286=)
c.3854C= (p.Thr1285=)
c.3872C= (p.Thr1291=)
c.-6+5600G= (n.-6+5600G=)
n.549C=
c.4052C= (p.Thr1351=)
c.3986C= (p.Thr1329=)
c.4046C= (p.Thr1349=)
c.3992C= (p.Thr1331=)
c.3917C= (p.Thr1306=)
c.3512C= (p.Thr1171=)
c.2870C= (p.Thr957=)
c.380C= (p.Thr127=)
n.4295C=
10g.71732128C>GCA377156386C10orf105,CDH23c.3857C>G (p.Thr1286Ser)
c.3854C>G (p.Thr1285Ser)
c.3872C>G (p.Thr1291Ser)
c.-6+5600G>C (n.-6+5600G>C)
n.549C>G
c.4052C>G (p.Thr1351Ser)
c.3986C>G (p.Thr1329Ser)
c.4046C>G (p.Thr1349Ser)
c.3992C>G (p.Thr1331Ser)
c.3917C>G (p.Thr1306Ser)
c.3512C>G (p.Thr1171Ser)
c.2870C>G (p.Thr957Ser)
c.380C>G (p.Thr127Ser)
n.4295C>G
dbSNP
10g.71732128C>TCA377156388C10orf105,CDH23c.3857C>T (p.Thr1286Ile)
c.3854C>T (p.Thr1285Ile)
c.3872C>T (p.Thr1291Ile)
c.-6+5600G>A (n.-6+5600G>A)
n.549C>T
c.4052C>T (p.Thr1351Ile)
c.3986C>T (p.Thr1329Ile)
c.4046C>T (p.Thr1349Ile)
c.3992C>T (p.Thr1331Ile)
c.3917C>T (p.Thr1306Ile)
c.3512C>T (p.Thr1171Ile)
c.2870C>T (p.Thr957Ile)
c.380C>T (p.Thr127Ile)
n.4295C>T
dbSNP gnomAD v2 gnomAD v4
10g.71732129T>ACA470283825C10orf105,CDH23c.3858T>A (p.Thr1286=)
c.3855T>A (p.Thr1285=)
c.3873T>A (p.Thr1291=)
c.-6+5599A>T (n.-6+5599A>T)
n.550T>A
c.4053T>A (p.Thr1351=)
c.3987T>A (p.Thr1329=)
c.4047T>A (p.Thr1349=)
c.3993T>A (p.Thr1331=)
c.3918T>A (p.Thr1306=)
c.3513T>A (p.Thr1171=)
c.2871T>A (p.Thr957=)
c.381T>A (p.Thr127=)
n.4296T>A
10g.71732129T>CCA470283827C10orf105,CDH23c.3858T>C (p.Thr1286=)
c.3855T>C (p.Thr1285=)
c.3873T>C (p.Thr1291=)
c.-6+5599A>G (n.-6+5599A>G)
n.550T>C
c.4053T>C (p.Thr1351=)
c.3987T>C (p.Thr1329=)
c.4047T>C (p.Thr1349=)
c.3993T>C (p.Thr1331=)
c.3918T>C (p.Thr1306=)
c.3513T>C (p.Thr1171=)
c.2871T>C (p.Thr957=)
c.381T>C (p.Thr127=)
n.4296T>C
gnomAD v4
10g.71732129T>GCA470283828C10orf105,CDH23c.3858T>G (p.Thr1286=)
c.3855T>G (p.Thr1285=)
c.3873T>G (p.Thr1291=)
c.-6+5599A>C (n.-6+5599A>C)
n.550T>G
c.4053T>G (p.Thr1351=)
c.3987T>G (p.Thr1329=)
c.4047T>G (p.Thr1349=)
c.3993T>G (p.Thr1331=)
c.3918T>G (p.Thr1306=)
c.3513T>G (p.Thr1171=)
c.2871T>G (p.Thr957=)
c.381T>G (p.Thr127=)
n.4296T>G
10g.71732130G>ACA5544858C10orf105,CDH23c.3859G>A (p.Asp1287Asn)
c.3856G>A (p.Asp1286Asn)
c.3874G>A (p.Asp1292Asn)
c.-6+5598C>T (n.-6+5598C>T)
n.551G>A
c.4054G>A (p.Asp1352Asn)
c.3988G>A (p.Asp1330Asn)
c.4048G>A (p.Asp1350Asn)
c.3994G>A (p.Asp1332Asn)
c.3919G>A (p.Asp1307Asn)
c.3514G>A (p.Asp1172Asn)
c.2872G>A (p.Asp958Asn)
c.382G>A (p.Asp128Asn)
n.4297G>A
dbSNP ExAC gnomAD v2 gnomAD v4
10g.71732130G>CCA377156389C10orf105,CDH23c.3859G>C (p.Asp1287His)
c.3856G>C (p.Asp1286His)
c.3874G>C (p.Asp1292His)
c.-6+5598C>G (n.-6+5598C>G)
n.551G>C
c.4054G>C (p.Asp1352His)
c.3988G>C (p.Asp1330His)
c.4048G>C (p.Asp1350His)
c.3994G>C (p.Asp1332His)
c.3919G>C (p.Asp1307His)
c.3514G>C (p.Asp1172His)
c.2872G>C (p.Asp958His)
c.382G>C (p.Asp128His)
n.4297G>C
dbSNP
10g.71732130G=CA1918849684C10orf105,CDH23c.3859G= (p.Asp1287=)
c.3856G= (p.Asp1286=)
c.3874G= (p.Asp1292=)
c.-6+5598C= (n.-6+5598C=)
n.551G=
c.4054G= (p.Asp1352=)
c.3988G= (p.Asp1330=)
c.4048G= (p.Asp1350=)
c.3994G= (p.Asp1332=)
c.3919G= (p.Asp1307=)
c.3514G= (p.Asp1172=)
c.2872G= (p.Asp958=)
c.382G= (p.Asp128=)
n.4297G=
10g.71732130G>TCA377156390C10orf105,CDH23c.3859G>T (p.Asp1287Tyr)
c.3856G>T (p.Asp1286Tyr)
c.3874G>T (p.Asp1292Tyr)
c.-6+5598C>A (n.-6+5598C>A)
n.551G>T
c.4054G>T (p.Asp1352Tyr)
c.3988G>T (p.Asp1330Tyr)
c.4048G>T (p.Asp1350Tyr)
c.3994G>T (p.Asp1332Tyr)
c.3919G>T (p.Asp1307Tyr)
c.3514G>T (p.Asp1172Tyr)
c.2872G>T (p.Asp958Tyr)
c.382G>T (p.Asp128Tyr)
n.4297G>T
gnomAD v4
10g.71732131_71732136delCA2609568450C10orf105,CDH23c.3860_3865del (p.Asp1287_Gln1288del)
c.3857_3862del (p.Asp1286_Gln1287del)
c.3875_3880del (p.Asp1292_Gln1293del)
c.-6+5593_-6+5598del (n.-6+5593_-6+5598del)
n.552_557del
c.4055_4060del (p.Asp1352_Gln1353del)
c.3989_3994del (p.Asp1330_Gln1331del)
c.4049_4054del (p.Asp1350_Gln1351del)
c.3995_4000del (p.Asp1332_Gln1333del)
c.3920_3925del (p.Asp1307_Gln1308del)
c.3515_3520del (p.Asp1172_Gln1173del)
c.2873_2878del (p.Asp958_Gln959del)
c.383_388del (p.Asp128_Gln129del)
n.4298_4303del
gnomAD v4
10g.71732131A>CCA377156391C10orf105,CDH23c.3860A>C (p.Asp1287Ala)
c.3857A>C (p.Asp1286Ala)
c.3875A>C (p.Asp1292Ala)
c.-6+5597T>G (n.-6+5597T>G)
n.552A>C
c.4055A>C (p.Asp1352Ala)
c.3989A>C (p.Asp1330Ala)
c.4049A>C (p.Asp1350Ala)
c.3995A>C (p.Asp1332Ala)
c.3920A>C (p.Asp1307Ala)
c.3515A>C (p.Asp1172Ala)
c.2873A>C (p.Asp958Ala)
c.383A>C (p.Asp128Ala)
n.4298A>C
dbSNP gnomAD v4
10g.71732131A>GCA377156392C10orf105,CDH23c.3860A>G (p.Asp1287Gly)
c.3857A>G (p.Asp1286Gly)
c.3875A>G (p.Asp1292Gly)
c.-6+5597T>C (n.-6+5597T>C)
n.552A>G
c.4055A>G (p.Asp1352Gly)
c.3989A>G (p.Asp1330Gly)
c.4049A>G (p.Asp1350Gly)
c.3995A>G (p.Asp1332Gly)
c.3920A>G (p.Asp1307Gly)
c.3515A>G (p.Asp1172Gly)
c.2873A>G (p.Asp958Gly)
c.383A>G (p.Asp128Gly)
n.4298A>G
dbSNP
10g.71732131A>TCA377156393C10orf105,CDH23c.3860A>T (p.Asp1287Val)
c.3857A>T (p.Asp1286Val)
c.3875A>T (p.Asp1292Val)
c.-6+5597T>A (n.-6+5597T>A)
n.552A>T
c.4055A>T (p.Asp1352Val)
c.3989A>T (p.Asp1330Val)
c.4049A>T (p.Asp1350Val)
c.3995A>T (p.Asp1332Val)
c.3920A>T (p.Asp1307Val)
c.3515A>T (p.Asp1172Val)
c.2873A>T (p.Asp958Val)
c.383A>T (p.Asp128Val)
n.4298A>T
dbSNP
10g.71732132C>ACA377156394C10orf105,CDH23c.3861C>A (p.Asp1287Glu)
c.3858C>A (p.Asp1286Glu)
c.3876C>A (p.Asp1292Glu)
c.-6+5596G>T (n.-6+5596G>T)
n.553C>A
c.4056C>A (p.Asp1352Glu)
c.3990C>A (p.Asp1330Glu)
c.4050C>A (p.Asp1350Glu)
c.3996C>A (p.Asp1332Glu)
c.3921C>A (p.Asp1307Glu)
c.3516C>A (p.Asp1172Glu)
c.2874C>A (p.Asp958Glu)
c.384C>A (p.Asp128Glu)
n.4299C>A
10g.71732132C>GCA377156396C10orf105,CDH23c.3861C>G (p.Asp1287Glu)
c.3858C>G (p.Asp1286Glu)
c.3876C>G (p.Asp1292Glu)
c.-6+5596G>C (n.-6+5596G>C)
n.553C>G
c.4056C>G (p.Asp1352Glu)
c.3990C>G (p.Asp1330Glu)
c.4050C>G (p.Asp1350Glu)
c.3996C>G (p.Asp1332Glu)
c.3921C>G (p.Asp1307Glu)
c.3516C>G (p.Asp1172Glu)
c.2874C>G (p.Asp958Glu)
c.384C>G (p.Asp128Glu)
n.4299C>G
dbSNP
10g.71732132C>TCA470283830C10orf105,CDH23c.3861C>T (p.Asp1287=)
c.3858C>T (p.Asp1286=)
c.3876C>T (p.Asp1292=)
c.-6+5596G>A (n.-6+5596G>A)
n.553C>T
c.4056C>T (p.Asp1352=)
c.3990C>T (p.Asp1330=)
c.4050C>T (p.Asp1350=)
c.3996C>T (p.Asp1332=)
c.3921C>T (p.Asp1307=)
c.3516C>T (p.Asp1172=)
c.2874C>T (p.Asp958=)
c.384C>T (p.Asp128=)
n.4299C>T
10g.71732133C>ACA377156400C10orf105,CDH23c.3862C>A (p.Gln1288Lys)
c.3859C>A (p.Gln1287Lys)
c.3877C>A (p.Gln1293Lys)
c.-6+5595G>T (n.-6+5595G>T)
n.554C>A
c.4057C>A (p.Gln1353Lys)
c.3991C>A (p.Gln1331Lys)
c.4051C>A (p.Gln1351Lys)
c.3997C>A (p.Gln1333Lys)
c.3922C>A (p.Gln1308Lys)
c.3517C>A (p.Gln1173Lys)
c.2875C>A (p.Gln959Lys)
c.385C>A (p.Gln129Lys)
n.4300C>A
dbSNP gnomAD v4
10g.71732133C=CA1918849685C10orf105,CDH23c.3862C= (p.Gln1288=)
c.3859C= (p.Gln1287=)
c.3877C= (p.Gln1293=)
c.-6+5595G= (n.-6+5595G=)
n.554C=
c.4057C= (p.Gln1353=)
c.3991C= (p.Gln1331=)
c.4051C= (p.Gln1351=)
c.3997C= (p.Gln1333=)
c.3922C= (p.Gln1308=)
c.3517C= (p.Gln1173=)
c.2875C= (p.Gln959=)
c.385C= (p.Gln129=)
n.4300C=
10g.71732133C>GCA377156405C10orf105,CDH23c.3862C>G (p.Gln1288Glu)
c.3859C>G (p.Gln1287Glu)
c.3877C>G (p.Gln1293Glu)
c.-6+5595G>C (n.-6+5595G>C)
n.554C>G
c.4057C>G (p.Gln1353Glu)
c.3991C>G (p.Gln1331Glu)
c.4051C>G (p.Gln1351Glu)
c.3997C>G (p.Gln1333Glu)
c.3922C>G (p.Gln1308Glu)
c.3517C>G (p.Gln1173Glu)
c.2875C>G (p.Gln959Glu)
c.385C>G (p.Gln129Glu)
n.4300C>G
dbSNP
10g.71732133C>TCA377156398C10orf105,CDH23c.3862C>T (p.Gln1288Ter)
c.3859C>T (p.Gln1287Ter)
c.3877C>T (p.Gln1293Ter)
c.-6+5595G>A (n.-6+5595G>A)
n.554C>T
c.4057C>T (p.Gln1353Ter)
c.3991C>T (p.Gln1331Ter)
c.4051C>T (p.Gln1351Ter)
c.3997C>T (p.Gln1333Ter)
c.3922C>T (p.Gln1308Ter)
c.3517C>T (p.Gln1173Ter)
c.2875C>T (p.Gln959Ter)
c.385C>T (p.Gln129Ter)
n.4300C>T
ClinVar gnomAD v4
10g.71732134A>CCA377156410C10orf105,CDH23c.3863A>C (p.Gln1288Pro)
c.3860A>C (p.Gln1287Pro)
c.3878A>C (p.Gln1293Pro)
c.-6+5594T>G (n.-6+5594T>G)
n.555A>C
c.4058A>C (p.Gln1353Pro)
c.3992A>C (p.Gln1331Pro)
c.4052A>C (p.Gln1351Pro)
c.3998A>C (p.Gln1333Pro)
c.3923A>C (p.Gln1308Pro)
c.3518A>C (p.Gln1173Pro)
c.2876A>C (p.Gln959Pro)
c.386A>C (p.Gln129Pro)
n.4301A>C
10g.71732134A>GCA377156407C10orf105,CDH23c.3863A>G (p.Gln1288Arg)
c.3860A>G (p.Gln1287Arg)
c.3878A>G (p.Gln1293Arg)
c.-6+5594T>C (n.-6+5594T>C)
n.555A>G
c.4058A>G (p.Gln1353Arg)
c.3992A>G (p.Gln1331Arg)
c.4052A>G (p.Gln1351Arg)
c.3998A>G (p.Gln1333Arg)
c.3923A>G (p.Gln1308Arg)
c.3518A>G (p.Gln1173Arg)
c.2876A>G (p.Gln959Arg)
c.386A>G (p.Gln129Arg)
n.4301A>G
10g.71732134A>TCA377156408C10orf105,CDH23c.3863A>T (p.Gln1288Leu)
c.3860A>T (p.Gln1287Leu)
c.3878A>T (p.Gln1293Leu)
c.-6+5594T>A (n.-6+5594T>A)
n.555A>T
c.4058A>T (p.Gln1353Leu)
c.3992A>T (p.Gln1331Leu)
c.4052A>T (p.Gln1351Leu)
c.3998A>T (p.Gln1333Leu)
c.3923A>T (p.Gln1308Leu)
c.3518A>T (p.Gln1173Leu)
c.2876A>T (p.Gln959Leu)
c.386A>T (p.Gln129Leu)
n.4301A>T
10g.71732135G>ACA470283834C10orf105,CDH23c.3864G>A (p.Gln1288=)
c.3861G>A (p.Gln1287=)
c.3879G>A (p.Gln1293=)
c.-6+5593C>T (n.-6+5593C>T)
n.556G>A
c.4059G>A (p.Gln1353=)
c.3993G>A (p.Gln1331=)
c.4053G>A (p.Gln1351=)
c.3999G>A (p.Gln1333=)
c.3924G>A (p.Gln1308=)
c.3519G>A (p.Gln1173=)
c.2877G>A (p.Gln959=)
c.387G>A (p.Gln129=)
n.4302G>A
gnomAD v4
10g.71732135G>CCA377156412C10orf105,CDH23c.3864G>C (p.Gln1288His)
c.3861G>C (p.Gln1287His)
c.3879G>C (p.Gln1293His)
c.-6+5593C>G (n.-6+5593C>G)
n.556G>C
c.4059G>C (p.Gln1353His)
c.3993G>C (p.Gln1331His)
c.4053G>C (p.Gln1351His)
c.3999G>C (p.Gln1333His)
c.3924G>C (p.Gln1308His)
c.3519G>C (p.Gln1173His)
c.2877G>C (p.Gln959His)
c.387G>C (p.Gln129His)
n.4302G>C
10g.71732135G=CA1918849686C10orf105,CDH23c.3864G= (p.Gln1288=)
c.3861G= (p.Gln1287=)
c.3879G= (p.Gln1293=)
c.-6+5593C= (n.-6+5593C=)
n.556G=
c.4059G= (p.Gln1353=)
c.3993G= (p.Gln1331=)
c.4053G= (p.Gln1351=)
c.3999G= (p.Gln1333=)
c.3924G= (p.Gln1308=)
c.3519G= (p.Gln1173=)
c.2877G= (p.Gln959=)
c.387G= (p.Gln129=)
n.4302G=
10g.71732135G>TCA377156413C10orf105,CDH23c.3864G>T (p.Gln1288His)
c.3861G>T (p.Gln1287His)
c.3879G>T (p.Gln1293His)
c.-6+5593C>A (n.-6+5593C>A)
n.556G>T
c.4059G>T (p.Gln1353His)
c.3993G>T (p.Gln1331His)
c.4053G>T (p.Gln1351His)
c.3999G>T (p.Gln1333His)
c.3924G>T (p.Gln1308His)
c.3519G>T (p.Gln1173His)
c.2877G>T (p.Gln959His)
c.387G>T (p.Gln129His)
n.4302G>T
ClinVar dbSNP gnomAD v4
10g.71732136G>ACA377156414C10orf105,CDH23c.3865G>A (p.Ala1289Thr)
c.3862G>A (p.Ala1288Thr)
c.3880G>A (p.Ala1294Thr)
c.-6+5592C>T (n.-6+5592C>T)
n.557G>A
c.4060G>A (p.Ala1354Thr)
c.3994G>A (p.Ala1332Thr)
c.4054G>A (p.Ala1352Thr)
c.4000G>A (p.Ala1334Thr)
c.3925G>A (p.Ala1309Thr)
c.3520G>A (p.Ala1174Thr)
c.2878G>A (p.Ala960Thr)
c.388G>A (p.Ala130Thr)
n.4303G>A
COSMIC
10g.71732136G>CCA377156415C10orf105,CDH23c.3865G>C (p.Ala1289Pro)
c.3862G>C (p.Ala1288Pro)
c.3880G>C (p.Ala1294Pro)
c.-6+5592C>G (n.-6+5592C>G)
n.557G>C
c.4060G>C (p.Ala1354Pro)
c.3994G>C (p.Ala1332Pro)
c.4054G>C (p.Ala1352Pro)
c.4000G>C (p.Ala1334Pro)
c.3925G>C (p.Ala1309Pro)
c.3520G>C (p.Ala1174Pro)
c.2878G>C (p.Ala960Pro)
c.388G>C (p.Ala130Pro)
n.4303G>C
10g.71732136G>TCA377156417C10orf105,CDH23c.3865G>T (p.Ala1289Ser)
c.3862G>T (p.Ala1288Ser)
c.3880G>T (p.Ala1294Ser)
c.-6+5592C>A (n.-6+5592C>A)
n.557G>T
c.4060G>T (p.Ala1354Ser)
c.3994G>T (p.Ala1332Ser)
c.4054G>T (p.Ala1352Ser)
c.4000G>T (p.Ala1334Ser)
c.3925G>T (p.Ala1309Ser)
c.3520G>T (p.Ala1174Ser)
c.2878G>T (p.Ala960Ser)
c.388G>T (p.Ala130Ser)
n.4303G>T
gnomAD v4
10g.71732137C>ACA377156419C10orf105,CDH23c.3866C>A (p.Ala1289Asp)
c.3863C>A (p.Ala1288Asp)
c.3881C>A (p.Ala1294Asp)
c.-6+5591G>T (n.-6+5591G>T)
n.558C>A
c.4061C>A (p.Ala1354Asp)
c.3995C>A (p.Ala1332Asp)
c.4055C>A (p.Ala1352Asp)
c.4001C>A (p.Ala1334Asp)
c.3926C>A (p.Ala1309Asp)
c.3521C>A (p.Ala1174Asp)
c.2879C>A (p.Ala960Asp)
c.389C>A (p.Ala130Asp)
n.4304C>A
10g.71732137C=CA1918849687C10orf105,CDH23c.3866C= (p.Ala1289=)
c.3863C= (p.Ala1288=)
c.3881C= (p.Ala1294=)
c.-6+5591G= (n.-6+5591G=)
n.558C=
c.4061C= (p.Ala1354=)
c.3995C= (p.Ala1332=)
c.4055C= (p.Ala1352=)
c.4001C= (p.Ala1334=)
c.3926C= (p.Ala1309=)
c.3521C= (p.Ala1174=)
c.2879C= (p.Ala960=)
c.389C= (p.Ala130=)
n.4304C=
10g.71732137C>GCA377156421C10orf105,CDH23c.3866C>G (p.Ala1289Gly)
c.3863C>G (p.Ala1288Gly)
c.3881C>G (p.Ala1294Gly)
c.-6+5591G>C (n.-6+5591G>C)
n.558C>G
c.4061C>G (p.Ala1354Gly)
c.3995C>G (p.Ala1332Gly)
c.4055C>G (p.Ala1352Gly)
c.4001C>G (p.Ala1334Gly)
c.3926C>G (p.Ala1309Gly)
c.3521C>G (p.Ala1174Gly)
c.2879C>G (p.Ala960Gly)
c.389C>G (p.Ala130Gly)
n.4304C>G
10g.71732137C>TCA209480511C10orf105,CDH23c.3866C>T (p.Ala1289Val)
c.3863C>T (p.Ala1288Val)
c.3881C>T (p.Ala1294Val)
c.-6+5591G>A (n.-6+5591G>A)
n.558C>T
c.4061C>T (p.Ala1354Val)
c.3995C>T (p.Ala1332Val)
c.4055C>T (p.Ala1352Val)
c.4001C>T (p.Ala1334Val)
c.3926C>T (p.Ala1309Val)
c.3521C>T (p.Ala1174Val)
c.2879C>T (p.Ala960Val)
c.389C>T (p.Ala130Val)
n.4304C>T
ClinVar dbSNP gnomAD v4
10g.71732140delCA2695212103C10orf105,CDH23c.3869del (p.Pro1290ArgfsTer?)
c.3866del (p.Pro1289ArgfsTer?)
c.3884del (p.Pro1295ArgfsTer?)
c.-6+5591del (n.-6+5591del)
n.561del
c.4064del (p.Pro1355ArgfsTer?)
c.3998del (p.Pro1333ArgfsTer?)
c.4058del (p.Pro1353ArgfsTer?)
c.4004del (p.Pro1335ArgfsTer?)
c.3929del (p.Pro1310ArgfsTer?)
c.3524del (p.Pro1175ArgfsTer?)
c.2882del (p.Pro961ArgfsTer?)
c.392del (p.Pro131ArgfsTer?)
n.4307del
10g.71732138C>ACA470283840C10orf105,CDH23c.3867C>A (p.Ala1289=)
c.3864C>A (p.Ala1288=)
c.3882C>A (p.Ala1294=)
c.-6+5590G>T (n.-6+5590G>T)
n.559C>A
c.4062C>A (p.Ala1354=)
c.3996C>A (p.Ala1332=)
c.4056C>A (p.Ala1352=)
c.4002C>A (p.Ala1334=)
c.3927C>A (p.Ala1309=)
c.3522C>A (p.Ala1174=)
c.2880C>A (p.Ala960=)
c.390C>A (p.Ala130=)
n.4305C>A
dbSNP
10g.71732138C>GCA470283841C10orf105,CDH23c.3867C>G (p.Ala1289=)
c.3864C>G (p.Ala1288=)
c.3882C>G (p.Ala1294=)
c.-6+5590G>C (n.-6+5590G>C)
n.559C>G
c.4062C>G (p.Ala1354=)
c.3996C>G (p.Ala1332=)
c.4056C>G (p.Ala1352=)
c.4002C>G (p.Ala1334=)
c.3927C>G (p.Ala1309=)
c.3522C>G (p.Ala1174=)
c.2880C>G (p.Ala960=)
c.390C>G (p.Ala130=)
n.4305C>G
10g.71732138C>TCA470283842C10orf105,CDH23c.3867C>T (p.Ala1289=)
c.3864C>T (p.Ala1288=)
c.3882C>T (p.Ala1294=)
c.-6+5590G>A (n.-6+5590G>A)
n.559C>T
c.4062C>T (p.Ala1354=)
c.3996C>T (p.Ala1332=)
c.4056C>T (p.Ala1352=)
c.4002C>T (p.Ala1334=)
c.3927C>T (p.Ala1309=)
c.3522C>T (p.Ala1174=)
c.2880C>T (p.Ala960=)
c.390C>T (p.Ala130=)
n.4305C>T
ClinVar dbSNP
10g.71732139C>ACA377156424C10orf105,CDH23c.3868C>A (p.Pro1290Thr)
c.3865C>A (p.Pro1289Thr)
c.3883C>A (p.Pro1295Thr)
c.-6+5589G>T (n.-6+5589G>T)
n.560C>A
c.4063C>A (p.Pro1355Thr)
c.3997C>A (p.Pro1333Thr)
c.4057C>A (p.Pro1353Thr)
c.4003C>A (p.Pro1335Thr)
c.3928C>A (p.Pro1310Thr)
c.3523C>A (p.Pro1175Thr)
c.2881C>A (p.Pro961Thr)
c.391C>A (p.Pro131Thr)
n.4306C>A
10g.71732139C=CA1918849688C10orf105,CDH23c.3868C= (p.Pro1290=)
c.3865C= (p.Pro1289=)
c.3883C= (p.Pro1295=)
c.-6+5589G= (n.-6+5589G=)
n.560C=
c.4063C= (p.Pro1355=)
c.3997C= (p.Pro1333=)
c.4057C= (p.Pro1353=)
c.4003C= (p.Pro1335=)
c.3928C= (p.Pro1310=)
c.3523C= (p.Pro1175=)
c.2881C= (p.Pro961=)
c.391C= (p.Pro131=)
n.4306C=
10g.71732139C>GCA5544859C10orf105,CDH23c.3868C>G (p.Pro1290Ala)
c.3865C>G (p.Pro1289Ala)
c.3883C>G (p.Pro1295Ala)
c.-6+5589G>C (n.-6+5589G>C)
n.560C>G
c.4063C>G (p.Pro1355Ala)
c.3997C>G (p.Pro1333Ala)
c.4057C>G (p.Pro1353Ala)
c.4003C>G (p.Pro1335Ala)
c.3928C>G (p.Pro1310Ala)
c.3523C>G (p.Pro1175Ala)
c.2881C>G (p.Pro961Ala)
c.391C>G (p.Pro131Ala)
n.4306C>G
dbSNP ExAC gnomAD v2 gnomAD v4
10g.71732139C>TCA377156425C10orf105,CDH23c.3868C>T (p.Pro1290Ser)
c.3865C>T (p.Pro1289Ser)
c.3883C>T (p.Pro1295Ser)
c.-6+5589G>A (n.-6+5589G>A)
n.560C>T
c.4063C>T (p.Pro1355Ser)
c.3997C>T (p.Pro1333Ser)
c.4057C>T (p.Pro1353Ser)
c.4003C>T (p.Pro1335Ser)
c.3928C>T (p.Pro1310Ser)
c.3523C>T (p.Pro1175Ser)
c.2881C>T (p.Pro961Ser)
c.391C>T (p.Pro131Ser)
n.4306C>T
10g.71732140C>ACA377156427C10orf105,CDH23c.3869C>A (p.Pro1290Gln)
c.3866C>A (p.Pro1289Gln)
c.3884C>A (p.Pro1295Gln)
c.-6+5588G>T (n.-6+5588G>T)
n.561C>A
c.4064C>A (p.Pro1355Gln)
c.3998C>A (p.Pro1333Gln)
c.4058C>A (p.Pro1353Gln)
c.4004C>A (p.Pro1335Gln)
c.3929C>A (p.Pro1310Gln)
c.3524C>A (p.Pro1175Gln)
c.2882C>A (p.Pro961Gln)
c.392C>A (p.Pro131Gln)
n.4307C>A
dbSNP gnomAD v4
10g.71732140C=CA1918849689C10orf105,CDH23c.3869C= (p.Pro1290=)
c.3866C= (p.Pro1289=)
c.3884C= (p.Pro1295=)
c.-6+5588G= (n.-6+5588G=)
n.561C=
c.4064C= (p.Pro1355=)
c.3998C= (p.Pro1333=)
c.4058C= (p.Pro1353=)
c.4004C= (p.Pro1335=)
c.3929C= (p.Pro1310=)
c.3524C= (p.Pro1175=)
c.2882C= (p.Pro961=)
c.392C= (p.Pro131=)
n.4307C=
10g.71732140C>GCA377156428C10orf105,CDH23c.3869C>G (p.Pro1290Arg)
c.3866C>G (p.Pro1289Arg)
c.3884C>G (p.Pro1295Arg)
c.-6+5588G>C (n.-6+5588G>C)
n.561C>G
c.4064C>G (p.Pro1355Arg)
c.3998C>G (p.Pro1333Arg)
c.4058C>G (p.Pro1353Arg)
c.4004C>G (p.Pro1335Arg)
c.3929C>G (p.Pro1310Arg)
c.3524C>G (p.Pro1175Arg)
c.2882C>G (p.Pro961Arg)
c.392C>G (p.Pro131Arg)
n.4307C>G
dbSNP
10g.71732140C>TCA175486C10orf105,CDH23c.3869C>T (p.Pro1290Leu)
c.3866C>T (p.Pro1289Leu)
c.3884C>T (p.Pro1295Leu)
c.-6+5588G>A (n.-6+5588G>A)
n.561C>T
c.4064C>T (p.Pro1355Leu)
c.3998C>T (p.Pro1333Leu)
c.4058C>T (p.Pro1353Leu)
c.4004C>T (p.Pro1335Leu)
c.3929C>T (p.Pro1310Leu)
c.3524C>T (p.Pro1175Leu)
c.2882C>T (p.Pro961Leu)
c.392C>T (p.Pro131Leu)
n.4307C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.71732141G>ACA5544860C10orf105,CDH23c.3870G>A (p.Pro1290=)
c.3867G>A (p.Pro1289=)
c.3885G>A (p.Pro1295=)
c.-6+5587C>T (n.-6+5587C>T)
n.562G>A
c.4065G>A (p.Pro1355=)
c.3999G>A (p.Pro1333=)
c.4059G>A (p.Pro1353=)
c.4005G>A (p.Pro1335=)
c.3930G>A (p.Pro1310=)
c.3525G>A (p.Pro1175=)
c.2883G>A (p.Pro961=)
c.393G>A (p.Pro131=)
n.4308G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.71732141G>CCA470283847C10orf105,CDH23c.3870G>C (p.Pro1290=)
c.3867G>C (p.Pro1289=)
c.3885G>C (p.Pro1295=)
c.-6+5587C>G (n.-6+5587C>G)
n.562G>C
c.4065G>C (p.Pro1355=)
c.3999G>C (p.Pro1333=)
c.4059G>C (p.Pro1353=)
c.4005G>C (p.Pro1335=)
c.3930G>C (p.Pro1310=)
c.3525G>C (p.Pro1175=)
c.2883G>C (p.Pro961=)
c.393G>C (p.Pro131=)
n.4308G>C
dbSNP
10g.71732141G=CA1918849690C10orf105,CDH23c.3870G= (p.Pro1290=)
c.3867G= (p.Pro1289=)
c.3885G= (p.Pro1295=)
c.-6+5587C= (n.-6+5587C=)
n.562G=
c.4065G= (p.Pro1355=)
c.3999G= (p.Pro1333=)
c.4059G= (p.Pro1353=)
c.4005G= (p.Pro1335=)
c.3930G= (p.Pro1310=)
c.3525G= (p.Pro1175=)
c.2883G= (p.Pro961=)
c.393G= (p.Pro131=)
n.4308G=
10g.71732141G>TCA470283849C10orf105,CDH23c.3870G>T (p.Pro1290=)
c.3867G>T (p.Pro1289=)
c.3885G>T (p.Pro1295=)
c.-6+5587C>A (n.-6+5587C>A)
n.562G>T
c.4065G>T (p.Pro1355=)
c.3999G>T (p.Pro1333=)
c.4059G>T (p.Pro1353=)
c.4005G>T (p.Pro1335=)
c.3930G>T (p.Pro1310=)
c.3525G>T (p.Pro1175=)
c.2883G>T (p.Pro961=)
c.393G>T (p.Pro131=)
n.4308G>T
10g.71732142C>ACA377156429C10orf105,CDH23c.3871C>A (p.Pro1291Thr)
c.3868C>A (p.Pro1290Thr)
c.3886C>A (p.Pro1296Thr)
c.-6+5586G>T (n.-6+5586G>T)
n.563C>A
c.4066C>A (p.Pro1356Thr)
c.4000C>A (p.Pro1334Thr)
c.4060C>A (p.Pro1354Thr)
c.4006C>A (p.Pro1336Thr)
c.3931C>A (p.Pro1311Thr)
c.3526C>A (p.Pro1176Thr)
c.2884C>A (p.Pro962Thr)
c.394C>A (p.Pro132Thr)
n.4309C>A
10g.71732142C>GCA377156430C10orf105,CDH23c.3871C>G (p.Pro1291Ala)
c.3868C>G (p.Pro1290Ala)
c.3886C>G (p.Pro1296Ala)
c.-6+5586G>C (n.-6+5586G>C)
n.563C>G
c.4066C>G (p.Pro1356Ala)
c.4000C>G (p.Pro1334Ala)
c.4060C>G (p.Pro1354Ala)
c.4006C>G (p.Pro1336Ala)
c.3931C>G (p.Pro1311Ala)
c.3526C>G (p.Pro1176Ala)
c.2884C>G (p.Pro962Ala)
c.394C>G (p.Pro132Ala)
n.4309C>G
10g.71732142C>TCA377156431C10orf105,CDH23c.3871C>T (p.Pro1291Ser)
c.3868C>T (p.Pro1290Ser)
c.3886C>T (p.Pro1296Ser)
c.-6+5586G>A (n.-6+5586G>A)
n.563C>T
c.4066C>T (p.Pro1356Ser)
c.4000C>T (p.Pro1334Ser)
c.4060C>T (p.Pro1354Ser)
c.4006C>T (p.Pro1336Ser)
c.3931C>T (p.Pro1311Ser)
c.3526C>T (p.Pro1176Ser)
c.2884C>T (p.Pro962Ser)
c.394C>T (p.Pro132Ser)
n.4309C>T
dbSNP
10g.71732143C>ACA377156432C10orf105,CDH23c.3872C>A (p.Pro1291His)
c.3869C>A (p.Pro1290His)
c.3887C>A (p.Pro1296His)
c.-6+5585G>T (n.-6+5585G>T)
n.564C>A
c.4067C>A (p.Pro1356His)
c.4001C>A (p.Pro1334His)
c.4061C>A (p.Pro1354His)
c.4007C>A (p.Pro1336His)
c.3932C>A (p.Pro1311His)
c.3527C>A (p.Pro1176His)
c.2885C>A (p.Pro962His)
c.395C>A (p.Pro132His)
n.4310C>A
dbSNP
10g.71732143C>GCA377156433C10orf105,CDH23c.3872C>G (p.Pro1291Arg)
c.3869C>G (p.Pro1290Arg)
c.3887C>G (p.Pro1296Arg)
c.-6+5585G>C (n.-6+5585G>C)
n.564C>G
c.4067C>G (p.Pro1356Arg)
c.4001C>G (p.Pro1334Arg)
c.4061C>G (p.Pro1354Arg)
c.4007C>G (p.Pro1336Arg)
c.3932C>G (p.Pro1311Arg)
c.3527C>G (p.Pro1176Arg)
c.2885C>G (p.Pro962Arg)
c.395C>G (p.Pro132Arg)
n.4310C>G
10g.71732143C>TCA377156434C10orf105,CDH23c.3872C>T (p.Pro1291Leu)
c.3869C>T (p.Pro1290Leu)
c.3887C>T (p.Pro1296Leu)
c.-6+5585G>A (n.-6+5585G>A)
n.564C>T
c.4067C>T (p.Pro1356Leu)
c.4001C>T (p.Pro1334Leu)
c.4061C>T (p.Pro1354Leu)
c.4007C>T (p.Pro1336Leu)
c.3932C>T (p.Pro1311Leu)
c.3527C>T (p.Pro1176Leu)
c.2885C>T (p.Pro962Leu)
c.395C>T (p.Pro132Leu)
n.4310C>T
10g.71732144C>ACA470283851C10orf105,CDH23c.3873C>A (p.Pro1291=)
c.3870C>A (p.Pro1290=)
c.3888C>A (p.Pro1296=)
c.-6+5584G>T (n.-6+5584G>T)
n.565C>A
c.4068C>A (p.Pro1356=)
c.4002C>A (p.Pro1334=)
c.4062C>A (p.Pro1354=)
c.4008C>A (p.Pro1336=)
c.3933C>A (p.Pro1311=)
c.3528C>A (p.Pro1176=)
c.2886C>A (p.Pro962=)
c.396C>A (p.Pro132=)
n.4311C>A
dbSNP
10g.71732144C=CA1918849691C10orf105,CDH23c.3873C= (p.Pro1291=)
c.3870C= (p.Pro1290=)
c.3888C= (p.Pro1296=)
c.-6+5584G= (n.-6+5584G=)
n.565C=
c.4068C= (p.Pro1356=)
c.4002C= (p.Pro1334=)
c.4062C= (p.Pro1354=)
c.4008C= (p.Pro1336=)
c.3933C= (p.Pro1311=)
c.3528C= (p.Pro1176=)
c.2886C= (p.Pro962=)
c.396C= (p.Pro132=)
n.4311C=
10g.71732144C>GCA470283852C10orf105,CDH23c.3873C>G (p.Pro1291=)
c.3870C>G (p.Pro1290=)
c.3888C>G (p.Pro1296=)
c.-6+5584G>C (n.-6+5584G>C)
n.565C>G
c.4068C>G (p.Pro1356=)
c.4002C>G (p.Pro1334=)
c.4062C>G (p.Pro1354=)
c.4008C>G (p.Pro1336=)
c.3933C>G (p.Pro1311=)
c.3528C>G (p.Pro1176=)
c.2886C>G (p.Pro962=)
c.396C>G (p.Pro132=)
n.4311C>G
10g.71732144C>TCA470283853C10orf105,CDH23c.3873C>T (p.Pro1291=)
c.3870C>T (p.Pro1290=)
c.3888C>T (p.Pro1296=)
c.-6+5584G>A (n.-6+5584G>A)
n.565C>T
c.4068C>T (p.Pro1356=)
c.4002C>T (p.Pro1334=)
c.4062C>T (p.Pro1354=)
c.4008C>T (p.Pro1336=)
c.3933C>T (p.Pro1311=)
c.3528C>T (p.Pro1176=)
c.2886C>T (p.Pro962=)
c.396C>T (p.Pro132=)
n.4311C>T
dbSNP gnomAD v3 gnomAD v4
10g.71732145T>ACA377156435C10orf105,CDH23c.3874T>A (p.Phe1292Ile)
c.3871T>A (p.Phe1291Ile)
c.3889T>A (p.Phe1297Ile)
c.-6+5583A>T (n.-6+5583A>T)
n.566T>A
c.4069T>A (p.Phe1357Ile)
c.4003T>A (p.Phe1335Ile)
c.4063T>A (p.Phe1355Ile)
c.4009T>A (p.Phe1337Ile)
c.3934T>A (p.Phe1312Ile)
c.3529T>A (p.Phe1177Ile)
c.2887T>A (p.Phe963Ile)
c.397T>A (p.Phe133Ile)
n.4312T>A
10g.71732145T>CCA377156436C10orf105,CDH23c.3874T>C (p.Phe1292Leu)
c.3871T>C (p.Phe1291Leu)
c.3889T>C (p.Phe1297Leu)
c.-6+5583A>G (n.-6+5583A>G)
n.566T>C
c.4069T>C (p.Phe1357Leu)
c.4003T>C (p.Phe1335Leu)
c.4063T>C (p.Phe1355Leu)
c.4009T>C (p.Phe1337Leu)
c.3934T>C (p.Phe1312Leu)
c.3529T>C (p.Phe1177Leu)
c.2887T>C (p.Phe963Leu)
c.397T>C (p.Phe133Leu)
n.4312T>C
dbSNP
10g.71732145T>GCA377156437C10orf105,CDH23c.3874T>G (p.Phe1292Val)
c.3871T>G (p.Phe1291Val)
c.3889T>G (p.Phe1297Val)
c.-6+5583A>C (n.-6+5583A>C)
n.566T>G
c.4069T>G (p.Phe1357Val)
c.4003T>G (p.Phe1335Val)
c.4063T>G (p.Phe1355Val)
c.4009T>G (p.Phe1337Val)
c.3934T>G (p.Phe1312Val)
c.3529T>G (p.Phe1177Val)
c.2887T>G (p.Phe963Val)
c.397T>G (p.Phe133Val)
n.4312T>G
10g.71732146T>ACA377156439C10orf105,CDH23c.3875T>A (p.Phe1292Tyr)
c.3872T>A (p.Phe1291Tyr)
c.3890T>A (p.Phe1297Tyr)
c.-6+5582A>T (n.-6+5582A>T)
n.567T>A
c.4070T>A (p.Phe1357Tyr)
c.4004T>A (p.Phe1335Tyr)
c.4064T>A (p.Phe1355Tyr)
c.4010T>A (p.Phe1337Tyr)
c.3935T>A (p.Phe1312Tyr)
c.3530T>A (p.Phe1177Tyr)
c.2888T>A (p.Phe963Tyr)
c.398T>A (p.Phe133Tyr)
n.4313T>A
10g.71732146T>CCA377156440C10orf105,CDH23c.3875T>C (p.Phe1292Ser)
c.3872T>C (p.Phe1291Ser)
c.3890T>C (p.Phe1297Ser)
c.-6+5582A>G (n.-6+5582A>G)
n.567T>C
c.4070T>C (p.Phe1357Ser)
c.4004T>C (p.Phe1335Ser)
c.4064T>C (p.Phe1355Ser)
c.4010T>C (p.Phe1337Ser)
c.3935T>C (p.Phe1312Ser)
c.3530T>C (p.Phe1177Ser)
c.2888T>C (p.Phe963Ser)
c.398T>C (p.Phe133Ser)
n.4313T>C
10g.71732146T>GCA377156438C10orf105,CDH23c.3875T>G (p.Phe1292Cys)
c.3872T>G (p.Phe1291Cys)
c.3890T>G (p.Phe1297Cys)
c.-6+5582A>C (n.-6+5582A>C)
n.567T>G
c.4070T>G (p.Phe1357Cys)
c.4004T>G (p.Phe1335Cys)
c.4064T>G (p.Phe1355Cys)
c.4010T>G (p.Phe1337Cys)
c.3935T>G (p.Phe1312Cys)
c.3530T>G (p.Phe1177Cys)
c.2888T>G (p.Phe963Cys)
c.398T>G (p.Phe133Cys)
n.4313T>G
10g.71732147C>ACA377156441C10orf105,CDH23c.3876C>A (p.Phe1292Leu)
c.3873C>A (p.Phe1291Leu)
c.3891C>A (p.Phe1297Leu)
c.-6+5581G>T (n.-6+5581G>T)
n.568C>A
c.4071C>A (p.Phe1357Leu)
c.4005C>A (p.Phe1335Leu)
c.4065C>A (p.Phe1355Leu)
c.4011C>A (p.Phe1337Leu)
c.3936C>A (p.Phe1312Leu)
c.3531C>A (p.Phe1177Leu)
c.2889C>A (p.Phe963Leu)
c.399C>A (p.Phe133Leu)
n.4314C>A
10g.71732147C>GCA377156442C10orf105,CDH23c.3876C>G (p.Phe1292Leu)
c.3873C>G (p.Phe1291Leu)
c.3891C>G (p.Phe1297Leu)
c.-6+5581G>C (n.-6+5581G>C)
n.568C>G
c.4071C>G (p.Phe1357Leu)
c.4005C>G (p.Phe1335Leu)
c.4065C>G (p.Phe1355Leu)
c.4011C>G (p.Phe1337Leu)
c.3936C>G (p.Phe1312Leu)
c.3531C>G (p.Phe1177Leu)
c.2889C>G (p.Phe963Leu)
c.399C>G (p.Phe133Leu)
n.4314C>G
10g.71732147C>TCA470283854C10orf105,CDH23c.3876C>T (p.Phe1292=)
c.3873C>T (p.Phe1291=)
c.3891C>T (p.Phe1297=)
c.-6+5581G>A (n.-6+5581G>A)
n.568C>T
c.4071C>T (p.Phe1357=)
c.4005C>T (p.Phe1335=)
c.4065C>T (p.Phe1355=)
c.4011C>T (p.Phe1337=)
c.3936C>T (p.Phe1312=)
c.3531C>T (p.Phe1177=)
c.2889C>T (p.Phe963=)
c.399C>T (p.Phe133=)
n.4314C>T
dbSNP
10g.71732148A>CCA377156443C10orf105,CDH23c.3877A>C (p.Asn1293His)
c.3874A>C (p.Asn1292His)
c.3892A>C (p.Asn1298His)
c.-6+5580T>G (n.-6+5580T>G)
n.569A>C
c.4072A>C (p.Asn1358His)
c.4006A>C (p.Asn1336His)
c.4066A>C (p.Asn1356His)
c.4012A>C (p.Asn1338His)
c.3937A>C (p.Asn1313His)
c.3532A>C (p.Asn1178His)
c.2890A>C (p.Asn964His)
c.400A>C (p.Asn134His)
n.4315A>C
10g.71732148A>GCA377156444C10orf105,CDH23c.3877A>G (p.Asn1293Asp)
c.3874A>G (p.Asn1292Asp)
c.3892A>G (p.Asn1298Asp)
c.-6+5580T>C (n.-6+5580T>C)
n.569A>G
c.4072A>G (p.Asn1358Asp)
c.4006A>G (p.Asn1336Asp)
c.4066A>G (p.Asn1356Asp)
c.4012A>G (p.Asn1338Asp)
c.3937A>G (p.Asn1313Asp)
c.3532A>G (p.Asn1178Asp)
c.2890A>G (p.Asn964Asp)
c.400A>G (p.Asn134Asp)
n.4315A>G
10g.71732148A>TCA377156445C10orf105,CDH23c.3877A>T (p.Asn1293Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3892A>T (p.Asn1298Tyr)
c.-6+5580T>A (n.-6+5580T>A)
n.569A>T
c.4072A>T (p.Asn1358Tyr)
c.4006A>T (p.Asn1336Tyr)
c.4066A>T (p.Asn1356Tyr)
c.4012A>T (p.Asn1338Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3532A>T (p.Asn1178Tyr)
c.2890A>T (p.Asn964Tyr)
c.400A>T (p.Asn134Tyr)
n.4315A>T
10g.71732149delCA2695212104C10orf105,CDH23c.3878del (p.Asn1293ThrfsTer?)
c.3875del (p.Asn1292ThrfsTer?)
c.3893del (p.Asn1298ThrfsTer?)
c.-6+5580del (n.-6+5580del)
n.570del
c.4073del (p.Asn1358ThrfsTer?)
c.4007del (p.Asn1336ThrfsTer?)
c.4067del (p.Asn1356ThrfsTer?)
c.4013del (p.Asn1338ThrfsTer?)
c.3938del (p.Asn1313ThrfsTer?)
c.3533del (p.Asn1178ThrfsTer?)
c.2891del (p.Asn964ThrfsTer?)
c.401del (p.Asn134ThrfsTer?)
n.4316del
10g.71732149A>CCA377156446C10orf105,CDH23c.3878A>C (p.Asn1293Thr)
c.3875A>C (p.Asn1292Thr)
c.3893A>C (p.Asn1298Thr)
c.-6+5579T>G (n.-6+5579T>G)
n.570A>C
c.4073A>C (p.Asn1358Thr)
c.4007A>C (p.Asn1336Thr)
c.4067A>C (p.Asn1356Thr)
c.4013A>C (p.Asn1338Thr)
c.3938A>C (p.Asn1313Thr)
c.3533A>C (p.Asn1178Thr)
c.2891A>C (p.Asn964Thr)
c.401A>C (p.Asn134Thr)
n.4316A>C
10g.71732149A>GCA377156447C10orf105,CDH23c.3878A>G (p.Asn1293Ser)
c.3875A>G (p.Asn1292Ser)
c.3893A>G (p.Asn1298Ser)
c.-6+5579T>C (n.-6+5579T>C)
n.570A>G
c.4073A>G (p.Asn1358Ser)
c.4007A>G (p.Asn1336Ser)
c.4067A>G (p.Asn1356Ser)
c.4013A>G (p.Asn1338Ser)
c.3938A>G (p.Asn1313Ser)
c.3533A>G (p.Asn1178Ser)
c.2891A>G (p.Asn964Ser)
c.401A>G (p.Asn134Ser)
n.4316A>G
gnomAD v4
10g.71732149A>TCA377156448C10orf105,CDH23c.3878A>T (p.Asn1293Ile)
c.3875A>T (p.Asn1292Ile)
c.3893A>T (p.Asn1298Ile)
c.-6+5579T>A (n.-6+5579T>A)
n.570A>T
c.4073A>T (p.Asn1358Ile)
c.4007A>T (p.Asn1336Ile)
c.4067A>T (p.Asn1356Ile)
c.4013A>T (p.Asn1338Ile)
c.3938A>T (p.Asn1313Ile)
c.3533A>T (p.Asn1178Ile)
c.2891A>T (p.Asn964Ile)
c.401A>T (p.Asn134Ile)
n.4316A>T
10g.71732150C>ACA377156449C10orf105,CDH23c.3879C>A (p.Asn1293Lys)
c.3876C>A (p.Asn1292Lys)
c.3894C>A (p.Asn1298Lys)
c.-6+5578G>T (n.-6+5578G>T)
n.571C>A
c.4074C>A (p.Asn1358Lys)
c.4008C>A (p.Asn1336Lys)
c.4068C>A (p.Asn1356Lys)
c.4014C>A (p.Asn1338Lys)
c.3939C>A (p.Asn1313Lys)
c.3534C>A (p.Asn1178Lys)
c.2892C>A (p.Asn964Lys)
c.402C>A (p.Asn134Lys)
n.4317C>A
10g.71732150C>GCA377156450C10orf105,CDH23c.3879C>G (p.Asn1293Lys)
c.3876C>G (p.Asn1292Lys)
c.3894C>G (p.Asn1298Lys)
c.-6+5578G>C (n.-6+5578G>C)
n.571C>G
c.4074C>G (p.Asn1358Lys)
c.4008C>G (p.Asn1336Lys)
c.4068C>G (p.Asn1356Lys)
c.4014C>G (p.Asn1338Lys)
c.3939C>G (p.Asn1313Lys)
c.3534C>G (p.Asn1178Lys)
c.2892C>G (p.Asn964Lys)
c.402C>G (p.Asn134Lys)
n.4317C>G
10g.71732150C>TCA470283860C10orf105,CDH23c.3879C>T (p.Asn1293=)
c.3876C>T (p.Asn1292=)
c.3894C>T (p.Asn1298=)
c.-6+5578G>A (n.-6+5578G>A)
n.571C>T
c.4074C>T (p.Asn1358=)
c.4008C>T (p.Asn1336=)
c.4068C>T (p.Asn1356=)
c.4014C>T (p.Asn1338=)
c.3939C>T (p.Asn1313=)
c.3534C>T (p.Asn1178=)
c.2892C>T (p.Asn964=)
c.402C>T (p.Asn134=)
n.4317C>T
ClinVar gnomAD v4
10g.71732151C>ACA377156451C10orf105,CDH23c.3880C>A (p.Gln1294Lys)
c.3877C>A (p.Gln1293Lys)
c.3895C>A (p.Gln1299Lys)
c.-6+5577G>T (n.-6+5577G>T)
n.572C>A
c.4075C>A (p.Gln1359Lys)
c.4009C>A (p.Gln1337Lys)
c.4069C>A (p.Gln1357Lys)
c.4015C>A (p.Gln1339Lys)
c.3940C>A (p.Gln1314Lys)
c.3535C>A (p.Gln1179Lys)
c.2893C>A (p.Gln965Lys)
c.403C>A (p.Gln135Lys)
n.4318C>A
10g.71732151C=CA1918849692C10orf105,CDH23c.3880C= (p.Gln1294=)
c.3877C= (p.Gln1293=)
c.3895C= (p.Gln1299=)
c.-6+5577G= (n.-6+5577G=)
n.572C=
c.4075C= (p.Gln1359=)
c.4009C= (p.Gln1337=)
c.4069C= (p.Gln1357=)
c.4015C= (p.Gln1339=)
c.3940C= (p.Gln1314=)
c.3535C= (p.Gln1179=)
c.2893C= (p.Gln965=)
c.403C= (p.Gln135=)
n.4318C=
10g.71732151C>GCA377156452C10orf105,CDH23c.3880C>G (p.Gln1294Glu)
c.3877C>G (p.Gln1293Glu)
c.3895C>G (p.Gln1299Glu)
c.-6+5577G>C (n.-6+5577G>C)
n.572C>G
c.4075C>G (p.Gln1359Glu)
c.4009C>G (p.Gln1337Glu)
c.4069C>G (p.Gln1357Glu)
c.4015C>G (p.Gln1339Glu)
c.3940C>G (p.Gln1314Glu)
c.3535C>G (p.Gln1179Glu)
c.2893C>G (p.Gln965Glu)
c.403C>G (p.Gln135Glu)
n.4318C>G
10g.71732151C>TCA253330C10orf105,CDH23c.3880C>T (p.Gln1294Ter)
c.3877C>T (p.Gln1293Ter)
c.3895C>T (p.Gln1299Ter)
c.-6+5577G>A (n.-6+5577G>A)
n.572C>T
c.4075C>T (p.Gln1359Ter)
c.4009C>T (p.Gln1337Ter)
c.4069C>T (p.Gln1357Ter)
c.4015C>T (p.Gln1339Ter)
c.3940C>T (p.Gln1314Ter)
c.3535C>T (p.Gln1179Ter)
c.2893C>T (p.Gln965Ter)
c.403C>T (p.Gln135Ter)
n.4318C>T
ClinVar dbSNP gnomAD v4

Number of alleles fetched