Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71732051G>A | CA470283697 | C10orf105,CDH23 | c.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 | |
10 | g.71732051G>C | CA377155938 | C10orf105,CDH23 | c.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 | |
10 | g.71732051G>T | CA377155940 | C10orf105,CDH23 | c.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 | |
10 | g.71732052A>C | CA377155946 | C10orf105,CDH23 | c.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 | |
10 | g.71732052A>G | CA377155949 | C10orf105,CDH23 | c.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 |
10 | g.71732052A>T | CA377155951 | C10orf105,CDH23 | c.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 |
10 | g.71732053G>A | CA377155953 | C10orf105,CDH23 | c.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 |
10 | g.71732053G>C | CA377155956 | C10orf105,CDH23 | c.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 | |
10 | g.71732053G>T | CA377155958 | C10orf105,CDH23 | c.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 | |
10 | g.71732054C>A | CA377155960 | C10orf105,CDH23 | c.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 |
10 | g.71732054C= | CA1918849657 | C10orf105,CDH23 | c.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= | |
10 | g.71732054C>G | CA377155963 | C10orf105,CDH23 | c.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 | |
10 | g.71732054C>T | CA470283699 | C10orf105,CDH23 | c.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 |
10 | g.71732055A= | CA1918849658 | C10orf105,CDH23 | c.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= | |
10 | g.71732055A>C | CA10606912 | C10orf105,CDH23 | c.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 |
10 | g.71732055A>G | CA377155973 | C10orf105,CDH23 | c.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 |
10 | g.71732055A>T | CA377155970 | C10orf105,CDH23 | c.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 | |
10 | g.71732056C>A | CA377155977 | C10orf105,CDH23 | c.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 |
10 | g.71732056C>G | CA377155983 | C10orf105,CDH23 | c.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 |
10 | g.71732056C>T | CA377155980 | C10orf105,CDH23 | c.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 |
10 | g.71732057A>C | CA470283701 | C10orf105,CDH23 | c.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 | |
10 | g.71732057A>G | CA470283702 | C10orf105,CDH23 | c.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 | |
10 | g.71732057A>T | CA470283703 | C10orf105,CDH23 | c.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 | |
10 | g.71732058G>A | CA377155985 | C10orf105,CDH23 | c.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 | |
10 | g.71732058G>C | CA377155986 | C10orf105,CDH23 | c.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 | |
10 | g.71732058G>T | CA377155987 | C10orf105,CDH23 | c.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 | |
10 | g.71732059G>A | CA377155990 | C10orf105,CDH23 | c.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 | |
10 | g.71732059G>C | CA377155991 | C10orf105,CDH23 | c.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 |
10 | g.71732059G>T | CA377155993 | C10orf105,CDH23 | c.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 | |
10 | g.71732060G>A | CA470283705 | C10orf105,CDH23 | c.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 | |
10 | g.71732060G>C | CA470283706 | C10orf105,CDH23 | c.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 |
10 | g.71732060G= | CA1918849659 | C10orf105,CDH23 | c.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= | |
10 | g.71732060G>T | CA470283707 | C10orf105,CDH23 | c.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 |
10 | g.71732061C>A | CA377155999 | C10orf105,CDH23 | c.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 | |
10 | g.71732061C= | CA1918849660 | C10orf105,CDH23 | c.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= | |
10 | g.71732061C>G | CA377156000 | C10orf105,CDH23 | c.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 | |
10 | g.71732061C>T | CA209480480 | C10orf105,CDH23 | c.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 |
10 | g.71732062T>A | CA377156004 | C10orf105,CDH23 | c.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 | |
10 | g.71732062T>C | CA377156005 | C10orf105,CDH23 | c.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 | |
10 | g.71732062T>G | CA377156006 | C10orf105,CDH23 | c.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 | |
10 | g.71732063T>A | CA470283708 | C10orf105,CDH23 | c.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 | |
10 | g.71732063T>C | CA470283709 | C10orf105,CDH23 | c.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 |
10 | g.71732063T>G | CA470283710 | C10orf105,CDH23 | c.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 | |
10 | g.71732064A>C | CA377156010 | C10orf105,CDH23 | c.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 | |
10 | g.71732064A>G | CA377156007 | C10orf105,CDH23 | c.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 | |
10 | g.71732064A>T | CA377156008 | C10orf105,CDH23 | c.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 | |
10 | g.71732065T>A | CA377156011 | C10orf105,CDH23 | c.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 | |
10 | g.71732065T>C | CA377156012 | C10orf105,CDH23 | c.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 | |
10 | g.71732065T>G | CA377156014 | C10orf105,CDH23 | c.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 | |
10 | g.71732066C>A | CA470283712 | C10orf105,CDH23 | c.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 | |
10 | g.71732066C= | CA1918849661 | C10orf105,CDH23 | c.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= | |
10 | g.71732066C>G | CA377156016 | C10orf105,CDH23 | c.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 | |
10 | g.71732066C>T | CA209480484 | C10orf105,CDH23 | c.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 |
10 | g.71732067A>C | CA377156019 | C10orf105,CDH23 | c.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 | |
10 | g.71732067A>G | CA377156022 | C10orf105,CDH23 | c.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 |
10 | g.71732067A>T | CA377156026 | C10orf105,CDH23 | c.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 | |
10 | g.71732068T>A | CA377156029 | C10orf105,CDH23 | c.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 | |
10 | g.71732068T>C | CA377156041 | C10orf105,CDH23 | c.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 | |
10 | g.71732068T>G | CA377156043 | C10orf105,CDH23 | c.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 | |
10 | g.71732069C>A | CA470283714 | C10orf105,CDH23 | c.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 | |
10 | g.71732069C= | CA1918849662 | C10orf105,CDH23 | c.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= | |
10 | g.71732069C>G | CA377156045 | C10orf105,CDH23 | c.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 | |
10 | g.71732069C>T | CA470283715 | C10orf105,CDH23 | c.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 |
10 | g.71732070A>C | CA377156054 | C10orf105,CDH23 | c.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 | |
10 | g.71732070A>G | CA377156050 | C10orf105,CDH23 | c.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 | |
10 | g.71732070A>T | CA377156048 | C10orf105,CDH23 | c.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 | |
10 | g.71732073_71732082del | CA2609568446 | C10orf105,CDH23 | c.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 |
10 | g.71732071C>A | CA377156061 | C10orf105,CDH23 | c.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 |
10 | g.71732071C>G | CA377156057 | C10orf105,CDH23 | c.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 | |
10 | g.71732071C>T | CA377156060 | C10orf105,CDH23 | c.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 | |
10 | g.71732072C>A | CA470283717 | C10orf105,CDH23 | c.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 | |
10 | g.71732072C= | CA1918849663 | C10orf105,CDH23 | c.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= | |
10 | g.71732072C>G | CA470283718 | C10orf105,CDH23 | c.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 |
10 | g.71732072C>T | CA137393 | C10orf105,CDH23 | c.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 |
10 | g.71732073G>A | CA244165 | C10orf105,CDH23 | c.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 |
10 | g.71732073G>C | CA377156071 | C10orf105,CDH23 | c.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 | |
10 | g.71732073G= | CA1918849664 | C10orf105,CDH23 | c.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= | |
10 | g.71732073G>T | CA377156073 | C10orf105,CDH23 | c.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 |
10 | g.71732073_71732076del | CA2535181633 | C10orf105,CDH23 | c.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 | |
10 | g.71732074T>A | CA377156075 | C10orf105,CDH23 | c.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 | |
10 | g.71732074T>C | CA377156080 | C10orf105,CDH23 | c.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 | |
10 | g.71732074T>G | CA377156083 | C10orf105,CDH23 | c.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 | |
10 | g.71732075G>A | CA5544850 | C10orf105,CDH23 | c.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 |
10 | g.71732075G>C | CA470283719 | C10orf105,CDH23 | c.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 | |
10 | g.71732075G= | CA1918849665 | C10orf105,CDH23 | c.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= | |
10 | g.71732075G>T | CA470283720 | C10orf105,CDH23 | c.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 | |
10 | g.71732076A>C | CA377156084 | C10orf105,CDH23 | c.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 | |
10 | g.71732076A>G | CA377156085 | C10orf105,CDH23 | c.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 | |
10 | g.71732076A>T | CA377156086 | C10orf105,CDH23 | c.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 | |
10 | g.71732077A>C | CA377156091 | C10orf105,CDH23 | c.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 | |
10 | g.71732077A>G | CA377156088 | C10orf105,CDH23 | c.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 |
10 | g.71732077A>T | CA377156090 | C10orf105,CDH23 | c.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 | |
10 | g.71732078T>A | CA377156093 | C10orf105,CDH23 | c.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 | |
10 | g.71732078T>C | CA470283722 | C10orf105,CDH23 | c.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 | |
10 | g.71732078T>G | CA377156095 | C10orf105,CDH23 | c.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 | |
10 | g.71732079T>A | CA377156097 | C10orf105,CDH23 | c.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 | |
10 | g.71732079T>C | CA377156100 | C10orf105,CDH23 | c.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 | |
10 | g.71732079T>G | CA377156102 | C10orf105,CDH23 | c.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 | |
10 | g.71732079_71732080insGACT | CA2520828674 | C10orf105,CDH23 | c.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 | |
10 | g.71732080A>C | CA377156109 | C10orf105,CDH23 | c.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 | |
10 | g.71732080A>G | CA377156111 | C10orf105,CDH23 | c.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 | |
10 | g.71732080A>T | CA377156127 | C10orf105,CDH23 | c.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 |
10 | g.71732081C>A | CA377156129 | C10orf105,CDH23 | c.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 | |
10 | g.71732081C>G | CA377156131 | C10orf105,CDH23 | c.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 | |
10 | g.71732081C>T | CA470283726 | C10orf105,CDH23 | c.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 | |
10 | g.71732082C>A | CA377156135 | C10orf105,CDH23 | c.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 | |
10 | g.71732082C>G | CA377156136 | C10orf105,CDH23 | c.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 | |
10 | g.71732082C>T | CA470283727 | C10orf105,CDH23 | c.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 |
10 | g.71732083T>A | CA377156138 | C10orf105,CDH23 | c.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 | |
10 | g.71732083T>C | CA377156139 | C10orf105,CDH23 | c.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 | |
10 | g.71732083T>G | CA377156137 | C10orf105,CDH23 | c.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 | |
10 | g.71732084G>A | CA470283728 | C10orf105,CDH23 | c.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 | |
10 | g.71732084G>C | CA470283729 | C10orf105,CDH23 | c.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 | |
10 | g.71732084G>T | CA470283730 | C10orf105,CDH23 | c.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 | |
10 | g.71732085G>A | CA377156142 | C10orf105,CDH23 | c.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 |
10 | g.71732085G>C | CA377156147 | C10orf105,CDH23 | c.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 |
10 | g.71732085G>T | CA377156145 | C10orf105,CDH23 | c.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 | |
10 | g.71732086A>C | CA377156150 | C10orf105,CDH23 | c.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 | |
10 | g.71732086A>G | CA377156153 | C10orf105,CDH23 | c.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 | |
10 | g.71732086A>T | CA377156156 | C10orf105,CDH23 | c.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 | |
10 | g.71732087C>A | CA377156160 | C10orf105,CDH23 | c.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 | |
10 | g.71732087C>G | CA377156163 | C10orf105,CDH23 | c.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 | |
10 | g.71732087C>T | CA470283731 | C10orf105,CDH23 | c.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 | |
10 | g.71732088T>A | CA377156166 | C10orf105,CDH23 | c.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 |
10 | g.71732088T>C | CA377156167 | C10orf105,CDH23 | c.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 |
10 | g.71732088T>G | CA377156168 | C10orf105,CDH23 | c.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 | |
10 | g.71732089A>C | CA377156169 | C10orf105,CDH23 | c.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 | |
10 | g.71732089A>G | CA377156170 | C10orf105,CDH23 | c.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 | |
10 | g.71732089A>T | CA377156173 | C10orf105,CDH23 | c.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 | |
10 | g.71732090C>A | CA377156185 | C10orf105,CDH23 | c.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 |
10 | g.71732090C= | CA1918849666 | C10orf105,CDH23 | c.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= | |
10 | g.71732090C>G | CA377156183 | C10orf105,CDH23 | c.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 |
10 | g.71732090C>T | CA5544851 | C10orf105,CDH23 | c.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 |
10 | g.71732091G>A | CA5544852 | C10orf105,CDH23 | c.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 |
10 | g.71732091G>C | CA377156188 | C10orf105,CDH23 | c.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 |
10 | g.71732091G= | CA1918849667 | C10orf105,CDH23 | c.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= | |
10 | g.71732091G>T | CA377156190 | C10orf105,CDH23 | c.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 | |
10 | g.71732092A>C | CA377156192 | C10orf105,CDH23 | c.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 | |
10 | g.71732092A>G | CA377156194 | C10orf105,CDH23 | c.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 | |
10 | g.71732092A>T | CA377156197 | C10orf105,CDH23 | c.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 | |
10 | g.71732093G>A | CA470283733 | C10orf105,CDH23 | c.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 |
10 | g.71732093G>C | CA377156198 | C10orf105,CDH23 | c.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 | |
10 | g.71732093G>T | CA377156199 | C10orf105,CDH23 | c.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 | |
10 | g.71732094A>C | CA377156200 | C10orf105,CDH23 | c.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 | |
10 | g.71732094A>G | CA377156201 | C10orf105,CDH23 | c.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 | |
10 | g.71732094A>T | CA377156202 | C10orf105,CDH23 | c.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 | |
10 | g.71732095C>A | CA377156210 | C10orf105,CDH23 | c.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 |
10 | g.71732095C= | CA1918849668 | C10orf105,CDH23 | c.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= | |
10 | g.71732095C>G | CA377156207 | C10orf105,CDH23 | c.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 | |
10 | g.71732095C>T | CA377156204 | C10orf105,CDH23 | c.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 | |
10 | g.71732096C>A | CA470283736 | C10orf105,CDH23 | c.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 |
10 | g.71732096C>G | CA470283737 | C10orf105,CDH23 | c.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 |
10 | g.71732096C>T | CA470283739 | C10orf105,CDH23 | c.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 | |
10 | g.71732097A>C | CA377156212 | C10orf105,CDH23 | c.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 | |
10 | g.71732097A>G | CA377156218 | C10orf105,CDH23 | c.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 |
10 | g.71732097A>T | CA377156219 | C10orf105,CDH23 | c.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 | |
10 | g.71732098del | CA2609568447 | C10orf105,CDH23 | c.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 |
10 | g.71732098A>C | CA377156220 | C10orf105,CDH23 | c.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 |
10 | g.71732098A>G | CA377156222 | C10orf105,CDH23 | c.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 | |
10 | g.71732098A>T | CA377156224 | C10orf105,CDH23 | c.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 | |
10 | g.71732099G>A | CA470283742 | C10orf105,CDH23 | c.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 |
10 | g.71732099G>C | CA377156228 | C10orf105,CDH23 | c.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 |
10 | g.71732099G>T | CA377156226 | C10orf105,CDH23 | c.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 |
10 | g.71732100A>C | CA377156231 | C10orf105,CDH23 | c.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 |
10 | g.71732100A>G | CA377156232 | C10orf105,CDH23 | c.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 | |
10 | g.71732100A>T | CA377156233 | C10orf105,CDH23 | c.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 | |
10 | g.71732101C>A | CA377156234 | C10orf105,CDH23 | c.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 | |
10 | g.71732101C= | CA1918849669 | C10orf105,CDH23 | c.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= | |
10 | g.71732101C>G | CA377156235 | C10orf105,CDH23 | c.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 |
10 | g.71732101C>T | CA377156236 | C10orf105,CDH23 | c.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 |
10 | g.71732102C>A | CA470283744 | C10orf105,CDH23 | c.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 | |
10 | g.71732102C= | CA1918849670 | C10orf105,CDH23 | c.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= | |
10 | g.71732102C>G | CA470283745 | C10orf105,CDH23 | c.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 |
10 | g.71732102C>T | CA470283746 | C10orf105,CDH23 | c.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 |
10 | g.71732103A= | CA1918849671 | C10orf105,CDH23 | c.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= | |
10 | g.71732103A>C | CA377156238 | C10orf105,CDH23 | c.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 |
10 | g.71732103A>G | CA377156248 | C10orf105,CDH23 | c.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 |
10 | g.71732103A>T | CA377156246 | C10orf105,CDH23 | c.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 | |
10 | g.71732104G>A | CA377156250 | C10orf105,CDH23 | c.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 | |
10 | g.71732104G>C | CA377156254 | C10orf105,CDH23 | c.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 | |
10 | g.71732104G>T | CA377156256 | C10orf105,CDH23 | c.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 | |
10 | g.71732105C>A | CA377156258 | C10orf105,CDH23 | c.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 | |
10 | g.71732105C>G | CA377156260 | C10orf105,CDH23 | c.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 | |
10 | g.71732105C>T | CA470283747 | C10orf105,CDH23 | c.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 |
10 | g.71732106T>A | CA377156264 | C10orf105,CDH23 | c.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 | |
10 | g.71732106T>C | CA377156265 | C10orf105,CDH23 | c.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 | |
10 | g.71732106T>G | CA377156268 | C10orf105,CDH23 | c.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 | |
10 | g.71732107A>C | CA377156272 | C10orf105,CDH23 | c.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 | |
10 | g.71732107A>G | CA377156274 | C10orf105,CDH23 | c.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 | |
10 | g.71732107A>T | CA377156276 | C10orf105,CDH23 | c.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 | |
10 | g.71732108C>A | CA377156278 | C10orf105,CDH23 | c.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 | |
10 | g.71732108C>G | CA377156277 | C10orf105,CDH23 | c.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 |
10 | g.71732108C>T | CA470283749 | C10orf105,CDH23 | c.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 | |
10 | g.71732108_71732111delinsCATG | CA1918849672 | C10orf105,CDH23 | c.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 | |
10 | g.71732109A= | CA1918849673 | C10orf105,CDH23 | c.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= | |
10 | g.71732109A>C | CA209480499 | C10orf105,CDH23 | c.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 |
10 | g.71732109A>G | CA377156290 | C10orf105,CDH23 | c.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 |
10 | g.71732109A>T | CA377156287 | C10orf105,CDH23 | c.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 |
10 | g.71732113_71732115del | CA253323 | C10orf105,CDH23 | c.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 |
10 | g.71732110T>A | CA5544854 | C10orf105,CDH23 | c.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 |
10 | g.71732110T>C | CA5544853 | C10orf105,CDH23 | c.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 |
10 | g.71732110T>G | CA377156294 | C10orf105,CDH23 | c.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 | |
10 | g.71732110T= | CA1918849674 | C10orf105,CDH23 | c.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= | |
10 | g.71732111G>A | CA377156295 | C10orf105,CDH23 | c.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 |
10 | g.71732111G>C | CA377156296 | C10orf105,CDH23 | c.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 |
10 | g.71732111G= | CA1918849675 | C10orf105,CDH23 | c.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= | |
10 | g.71732111G>T | CA377156299 | C10orf105,CDH23 | c.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 |
10 | g.71732112A>C | CA377156304 | C10orf105,CDH23 | c.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 | |
10 | g.71732112A>G | CA377156305 | C10orf105,CDH23 | c.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 | |
10 | g.71732112A>T | CA377156307 | C10orf105,CDH23 | c.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 | |
10 | g.71732115_71732118dup | CA2609568448 | C10orf105,CDH23 | c.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 |
10 | g.71732113T>A | CA377156313 | C10orf105,CDH23 | c.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 | |
10 | g.71732113T>C | CA377156315 | C10orf105,CDH23 | c.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 |
10 | g.71732113T>G | CA377156318 | C10orf105,CDH23 | c.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 | |
10 | g.71732114G>A | CA377156323 | C10orf105,CDH23 | c.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 |
10 | g.71732114G>C | CA377156324 | C10orf105,CDH23 | c.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 | |
10 | g.71732114G= | CA1918849676 | C10orf105,CDH23 | c.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= | |
10 | g.71732114G>T | CA377156325 | C10orf105,CDH23 | c.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 | |
10 | g.71732115A>C | CA377156329 | C10orf105,CDH23 | c.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 | |
10 | g.71732115A>G | CA377156327 | C10orf105,CDH23 | c.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 |
10 | g.71732115A>T | CA377156328 | C10orf105,CDH23 | c.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 | |
10 | g.71732116A= | CA1918849677 | C10orf105,CDH23 | c.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= | |
10 | g.71732116A>C | CA377156337 | C10orf105,CDH23 | c.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 | |
10 | g.71732116A>G | CA137396 | C10orf105,CDH23 | c.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 |
10 | g.71732116A>T | CA377156340 | C10orf105,CDH23 | c.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 | |
10 | g.71732117T>A | CA377156341 | C10orf105,CDH23 | c.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 | |
10 | g.71732117T>C | CA470283751 | C10orf105,CDH23 | c.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 | |
10 | g.71732117T>G | CA377156343 | C10orf105,CDH23 | c.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 | |
10 | g.71732118G>A | CA5544855 | C10orf105,CDH23 | c.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 |
10 | g.71732118G>C | CA377156352 | C10orf105,CDH23 | c.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 | |
10 | g.71732118G= | CA1918849678 | C10orf105,CDH23 | c.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= | |
10 | g.71732118G>T | CA377156355 | C10orf105,CDH23 | c.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 |
10 | g.71732119T>A | CA377156357 | C10orf105,CDH23 | c.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 | |
10 | g.71732119T>C | CA377156359 | C10orf105,CDH23 | c.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 | |
10 | g.71732119T>G | CA377156360 | C10orf105,CDH23 | c.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 | |
10 | g.71732120G>A | CA470283814 | C10orf105,CDH23 | c.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 | |
10 | g.71732120G>C | CA470283812 | C10orf105,CDH23 | c.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 | |
10 | g.71732120G= | CA1918849679 | C10orf105,CDH23 | c.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= | |
10 | g.71732120G>T | CA470283811 | C10orf105,CDH23 | c.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 |
10 | g.71732121T>A | CA377156361 | C10orf105,CDH23 | c.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 | |
10 | g.71732121T>C | CA377156366 | C10orf105,CDH23 | c.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 | |
10 | g.71732121T>G | CA377156363 | C10orf105,CDH23 | c.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 | |
10 | g.71732122C>A | CA377156368 | C10orf105,CDH23 | c.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 |
10 | g.71732122C= | CA1918849680 | C10orf105,CDH23 | c.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= | |
10 | g.71732122C>G | CA377156369 | C10orf105,CDH23 | c.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 |
10 | g.71732122C>T | CA377156371 | C10orf105,CDH23 | c.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 |
10 | g.71732123G>A | CA5544856 | C10orf105,CDH23 | c.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 |
10 | g.71732123G>C | CA5544857 | C10orf105,CDH23 | c.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 |
10 | g.71732123G= | CA1918849681 | C10orf105,CDH23 | c.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= | |
10 | g.71732123G>T | CA470283816 | C10orf105,CDH23 | c.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 |
10 | g.71732124G>A | CA377156373 | C10orf105,CDH23 | c.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 |
10 | g.71732124G>C | CA377156374 | C10orf105,CDH23 | c.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 |
10 | g.71732124G= | CA1918849682 | C10orf105,CDH23 | c.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= | |
10 | g.71732124G>T | CA377156375 | C10orf105,CDH23 | c.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 | |
10 | g.71732125C>A | CA377156377 | C10orf105,CDH23 | c.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 | |
10 | g.71732125C>G | CA377156378 | C10orf105,CDH23 | c.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 |
10 | g.71732125C>T | CA377156380 | C10orf105,CDH23 | c.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 |
10 | g.71732126C>A | CA470283822 | C10orf105,CDH23 | c.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 | |
10 | g.71732126C>G | CA470283819 | C10orf105,CDH23 | c.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 | |
10 | g.71732126C>T | CA470283821 | C10orf105,CDH23 | c.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 |
10 | g.71732127A>C | CA377156384 | C10orf105,CDH23 | c.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 | |
10 | g.71732127A>G | CA377156382 | C10orf105,CDH23 | c.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 | |
10 | g.71732127A>T | CA377156383 | C10orf105,CDH23 | c.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 | |
10 | g.71732128C>A | CA377156385 | C10orf105,CDH23 | c.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 | |
10 | g.71732128C= | CA1918849683 | C10orf105,CDH23 | c.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= | |
10 | g.71732128C>G | CA377156386 | C10orf105,CDH23 | c.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 |
10 | g.71732128C>T | CA377156388 | C10orf105,CDH23 | c.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 |
10 | g.71732129T>A | CA470283825 | C10orf105,CDH23 | c.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 | |
10 | g.71732129T>C | CA470283827 | C10orf105,CDH23 | c.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 |
10 | g.71732129T>G | CA470283828 | C10orf105,CDH23 | c.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 | |
10 | g.71732130G>A | CA5544858 | C10orf105,CDH23 | c.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 |
10 | g.71732130G>C | CA377156389 | C10orf105,CDH23 | c.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 |
10 | g.71732130G= | CA1918849684 | C10orf105,CDH23 | c.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= | |
10 | g.71732130G>T | CA377156390 | C10orf105,CDH23 | c.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 |
10 | g.71732131_71732136del | CA2609568450 | C10orf105,CDH23 | c.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 |
10 | g.71732131A>C | CA377156391 | C10orf105,CDH23 | c.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 |
10 | g.71732131A>G | CA377156392 | C10orf105,CDH23 | c.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 |
10 | g.71732131A>T | CA377156393 | C10orf105,CDH23 | c.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 |
10 | g.71732132C>A | CA377156394 | C10orf105,CDH23 | c.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 | |
10 | g.71732132C>G | CA377156396 | C10orf105,CDH23 | c.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 |
10 | g.71732132C>T | CA470283830 | C10orf105,CDH23 | c.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 | |
10 | g.71732133C>A | CA377156400 | C10orf105,CDH23 | c.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 |
10 | g.71732133C= | CA1918849685 | C10orf105,CDH23 | c.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= | |
10 | g.71732133C>G | CA377156405 | C10orf105,CDH23 | c.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 |
10 | g.71732133C>T | CA377156398 | C10orf105,CDH23 | c.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 |
10 | g.71732134A>C | CA377156410 | C10orf105,CDH23 | c.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 | |
10 | g.71732134A>G | CA377156407 | C10orf105,CDH23 | c.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 | |
10 | g.71732134A>T | CA377156408 | C10orf105,CDH23 | c.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 | |
10 | g.71732135G>A | CA470283834 | C10orf105,CDH23 | c.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 |
10 | g.71732135G>C | CA377156412 | C10orf105,CDH23 | c.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 | |
10 | g.71732135G= | CA1918849686 | C10orf105,CDH23 | c.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= | |
10 | g.71732135G>T | CA377156413 | C10orf105,CDH23 | c.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 |
10 | g.71732136G>A | CA377156414 | C10orf105,CDH23 | c.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 |
10 | g.71732136G>C | CA377156415 | C10orf105,CDH23 | c.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 | |
10 | g.71732136G>T | CA377156417 | C10orf105,CDH23 | c.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 |
10 | g.71732137C>A | CA377156419 | C10orf105,CDH23 | c.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 | |
10 | g.71732137C= | CA1918849687 | C10orf105,CDH23 | c.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= | |
10 | g.71732137C>G | CA377156421 | C10orf105,CDH23 | c.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 | |
10 | g.71732137C>T | CA209480511 | C10orf105,CDH23 | c.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 |
10 | g.71732140del | CA2695212103 | C10orf105,CDH23 | c.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 | |
10 | g.71732138C>A | CA470283840 | C10orf105,CDH23 | c.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 |
10 | g.71732138C>G | CA470283841 | C10orf105,CDH23 | c.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 | |
10 | g.71732138C>T | CA470283842 | C10orf105,CDH23 | c.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 |
10 | g.71732139C>A | CA377156424 | C10orf105,CDH23 | c.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 | |
10 | g.71732139C= | CA1918849688 | C10orf105,CDH23 | c.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= | |
10 | g.71732139C>G | CA5544859 | C10orf105,CDH23 | c.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 |
10 | g.71732139C>T | CA377156425 | C10orf105,CDH23 | c.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 | |
10 | g.71732140C>A | CA377156427 | C10orf105,CDH23 | c.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 |
10 | g.71732140C= | CA1918849689 | C10orf105,CDH23 | c.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= | |
10 | g.71732140C>G | CA377156428 | C10orf105,CDH23 | c.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 |
10 | g.71732140C>T | CA175486 | C10orf105,CDH23 | c.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 |
10 | g.71732141G>A | CA5544860 | C10orf105,CDH23 | c.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 |
10 | g.71732141G>C | CA470283847 | C10orf105,CDH23 | c.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 |
10 | g.71732141G= | CA1918849690 | C10orf105,CDH23 | c.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= | |
10 | g.71732141G>T | CA470283849 | C10orf105,CDH23 | c.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 | |
10 | g.71732142C>A | CA377156429 | C10orf105,CDH23 | c.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 | |
10 | g.71732142C>G | CA377156430 | C10orf105,CDH23 | c.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 | |
10 | g.71732142C>T | CA377156431 | C10orf105,CDH23 | c.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 |
10 | g.71732143C>A | CA377156432 | C10orf105,CDH23 | c.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 |
10 | g.71732143C>G | CA377156433 | C10orf105,CDH23 | c.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 | |
10 | g.71732143C>T | CA377156434 | C10orf105,CDH23 | c.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 | |
10 | g.71732144C>A | CA470283851 | C10orf105,CDH23 | c.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 |
10 | g.71732144C= | CA1918849691 | C10orf105,CDH23 | c.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= | |
10 | g.71732144C>G | CA470283852 | C10orf105,CDH23 | c.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 | |
10 | g.71732144C>T | CA470283853 | C10orf105,CDH23 | c.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 |
10 | g.71732145T>A | CA377156435 | C10orf105,CDH23 | c.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 | |
10 | g.71732145T>C | CA377156436 | C10orf105,CDH23 | c.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 |
10 | g.71732145T>G | CA377156437 | C10orf105,CDH23 | c.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 | |
10 | g.71732146T>A | CA377156439 | C10orf105,CDH23 | c.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 | |
10 | g.71732146T>C | CA377156440 | C10orf105,CDH23 | c.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 | |
10 | g.71732146T>G | CA377156438 | C10orf105,CDH23 | c.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 | |
10 | g.71732147C>A | CA377156441 | C10orf105,CDH23 | c.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 | |
10 | g.71732147C>G | CA377156442 | C10orf105,CDH23 | c.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 | |
10 | g.71732147C>T | CA470283854 | C10orf105,CDH23 | c.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 |
10 | g.71732148A>C | CA377156443 | C10orf105,CDH23 | c.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 | |
10 | g.71732148A>G | CA377156444 | C10orf105,CDH23 | c.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 | |
10 | g.71732148A>T | CA377156445 | C10orf105,CDH23 | c.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 | |
10 | g.71732149del | CA2695212104 | C10orf105,CDH23 | c.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 | |
10 | g.71732149A>C | CA377156446 | C10orf105,CDH23 | c.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 | |
10 | g.71732149A>G | CA377156447 | C10orf105,CDH23 | c.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 |
10 | g.71732149A>T | CA377156448 | C10orf105,CDH23 | c.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 | |
10 | g.71732150C>A | CA377156449 | C10orf105,CDH23 | c.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 | |
10 | g.71732150C>G | CA377156450 | C10orf105,CDH23 | c.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 | |
10 | g.71732150C>T | CA470283860 | C10orf105,CDH23 | c.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 |
10 | g.71732151C>A | CA377156451 | C10orf105,CDH23 | c.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 | |
10 | g.71732151C= | CA1918849692 | C10orf105,CDH23 | c.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= | |
10 | g.71732151C>G | CA377156452 | C10orf105,CDH23 | c.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 | |
10 | g.71732151C>T | CA253330 | C10orf105,CDH23 | c.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 |