Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
10 | g.71732152A= | CA1918849693 | C10orf105,CDH23 | c.3881A= (p.Gln1294=) c.3878A= (p.Gln1293=) c.3896A= (p.Gln1299=) c.-6+5576T= (n.-6+5576T=) n.573A= c.4076A= (p.Gln1359=) c.4010A= (p.Gln1337=) c.4070A= (p.Gln1357=) c.4016A= (p.Gln1339=) c.3941A= (p.Gln1314=) c.3536A= (p.Gln1179=) c.2894A= (p.Gln965=) c.404A= (p.Gln135=) n.4319A= | |
10 | g.71732152A>C | CA377156455 | C10orf105,CDH23 | c.3881A>C (p.Gln1294Pro) c.3878A>C (p.Gln1293Pro) c.3896A>C (p.Gln1299Pro) c.-6+5576T>G (n.-6+5576T>G) n.573A>C c.4076A>C (p.Gln1359Pro) c.4010A>C (p.Gln1337Pro) c.4070A>C (p.Gln1357Pro) c.4016A>C (p.Gln1339Pro) c.3941A>C (p.Gln1314Pro) c.3536A>C (p.Gln1179Pro) c.2894A>C (p.Gln965Pro) c.404A>C (p.Gln135Pro) n.4319A>C | |
10 | g.71732152A>G | CA377156454 | C10orf105,CDH23 | c.3881A>G (p.Gln1294Arg) c.3878A>G (p.Gln1293Arg) c.3896A>G (p.Gln1299Arg) c.-6+5576T>C (n.-6+5576T>C) n.573A>G c.4076A>G (p.Gln1359Arg) c.4010A>G (p.Gln1337Arg) c.4070A>G (p.Gln1357Arg) c.4016A>G (p.Gln1339Arg) c.3941A>G (p.Gln1314Arg) c.3536A>G (p.Gln1179Arg) c.2894A>G (p.Gln965Arg) c.404A>G (p.Gln135Arg) n.4319A>G | ClinVar dbSNP gnomAD v4 |
10 | g.71732152A>T | CA377156453 | C10orf105,CDH23 | c.3881A>T (p.Gln1294Leu) c.3878A>T (p.Gln1293Leu) c.3896A>T (p.Gln1299Leu) c.-6+5576T>A (n.-6+5576T>A) n.573A>T c.4076A>T (p.Gln1359Leu) c.4010A>T (p.Gln1337Leu) c.4070A>T (p.Gln1357Leu) c.4016A>T (p.Gln1339Leu) c.3941A>T (p.Gln1314Leu) c.3536A>T (p.Gln1179Leu) c.2894A>T (p.Gln965Leu) c.404A>T (p.Gln135Leu) n.4319A>T | |
10 | g.71732153G>A | CA470283863 | C10orf105,CDH23 | c.3882G>A (p.Gln1294=) c.3879G>A (p.Gln1293=) c.3897G>A (p.Gln1299=) c.-6+5575C>T (n.-6+5575C>T) n.574G>A c.4077G>A (p.Gln1359=) c.4011G>A (p.Gln1337=) c.4071G>A (p.Gln1357=) c.4017G>A (p.Gln1339=) c.3942G>A (p.Gln1314=) c.3537G>A (p.Gln1179=) c.2895G>A (p.Gln965=) c.405G>A (p.Gln135=) n.4320G>A | |
10 | g.71732153G>C | CA377156456 | C10orf105,CDH23 | c.3882G>C (p.Gln1294His) c.3879G>C (p.Gln1293His) c.3897G>C (p.Gln1299His) c.-6+5575C>G (n.-6+5575C>G) n.574G>C c.4077G>C (p.Gln1359His) c.4011G>C (p.Gln1337His) c.4071G>C (p.Gln1357His) c.4017G>C (p.Gln1339His) c.3942G>C (p.Gln1314His) c.3537G>C (p.Gln1179His) c.2895G>C (p.Gln965His) c.405G>C (p.Gln135His) n.4320G>C | dbSNP |
10 | g.71732153G>T | CA377156457 | C10orf105,CDH23 | c.3882G>T (p.Gln1294His) c.3879G>T (p.Gln1293His) c.3897G>T (p.Gln1299His) c.-6+5575C>A (n.-6+5575C>A) n.574G>T c.4077G>T (p.Gln1359His) c.4011G>T (p.Gln1337His) c.4071G>T (p.Gln1357His) c.4017G>T (p.Gln1339His) c.3942G>T (p.Gln1314His) c.3537G>T (p.Gln1179His) c.2895G>T (p.Gln965His) c.405G>T (p.Gln135His) n.4320G>T | |
10 | g.71732154G>A | CA377156458 | C10orf105,CDH23 | c.3883G>A (p.Gly1295Ser) c.3880G>A (p.Gly1294Ser) c.3898G>A (p.Gly1300Ser) c.-6+5574C>T (n.-6+5574C>T) n.575G>A c.4078G>A (p.Gly1360Ser) c.4012G>A (p.Gly1338Ser) c.4072G>A (p.Gly1358Ser) c.4018G>A (p.Gly1340Ser) c.3943G>A (p.Gly1315Ser) c.3538G>A (p.Gly1180Ser) c.2896G>A (p.Gly966Ser) c.406G>A (p.Gly136Ser) n.4321G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732154G>C | CA377156459 | C10orf105,CDH23 | c.3883G>C (p.Gly1295Arg) c.3880G>C (p.Gly1294Arg) c.3898G>C (p.Gly1300Arg) c.-6+5574C>G (n.-6+5574C>G) n.575G>C c.4078G>C (p.Gly1360Arg) c.4012G>C (p.Gly1338Arg) c.4072G>C (p.Gly1358Arg) c.4018G>C (p.Gly1340Arg) c.3943G>C (p.Gly1315Arg) c.3538G>C (p.Gly1180Arg) c.2896G>C (p.Gly966Arg) c.406G>C (p.Gly136Arg) n.4321G>C | gnomAD v4 |
10 | g.71732154G= | CA1918849694 | C10orf105,CDH23 | c.3883G= (p.Gly1295=) c.3880G= (p.Gly1294=) c.3898G= (p.Gly1300=) c.-6+5574C= (n.-6+5574C=) n.575G= c.4078G= (p.Gly1360=) c.4012G= (p.Gly1338=) c.4072G= (p.Gly1358=) c.4018G= (p.Gly1340=) c.3943G= (p.Gly1315=) c.3538G= (p.Gly1180=) c.2896G= (p.Gly966=) c.406G= (p.Gly136=) n.4321G= | |
10 | g.71732154G>T | CA377156460 | C10orf105,CDH23 | c.3883G>T (p.Gly1295Cys) c.3880G>T (p.Gly1294Cys) c.3898G>T (p.Gly1300Cys) c.-6+5574C>A (n.-6+5574C>A) n.575G>T c.4078G>T (p.Gly1360Cys) c.4012G>T (p.Gly1338Cys) c.4072G>T (p.Gly1358Cys) c.4018G>T (p.Gly1340Cys) c.3943G>T (p.Gly1315Cys) c.3538G>T (p.Gly1180Cys) c.2896G>T (p.Gly966Cys) c.406G>T (p.Gly136Cys) n.4321G>T | |
10 | g.71732155G>A | CA377156461 | C10orf105,CDH23 | c.3884G>A (p.Gly1295Asp) c.3881G>A (p.Gly1294Asp) c.3899G>A (p.Gly1300Asp) c.-6+5573C>T (n.-6+5573C>T) n.576G>A c.4079G>A (p.Gly1360Asp) c.4013G>A (p.Gly1338Asp) c.4073G>A (p.Gly1358Asp) c.4019G>A (p.Gly1340Asp) c.3944G>A (p.Gly1315Asp) c.3539G>A (p.Gly1180Asp) c.2897G>A (p.Gly966Asp) c.407G>A (p.Gly136Asp) n.4322G>A | dbSNP |
10 | g.71732155G>C | CA377156462 | C10orf105,CDH23 | c.3884G>C (p.Gly1295Ala) c.3881G>C (p.Gly1294Ala) c.3899G>C (p.Gly1300Ala) c.-6+5573C>G (n.-6+5573C>G) n.576G>C c.4079G>C (p.Gly1360Ala) c.4013G>C (p.Gly1338Ala) c.4073G>C (p.Gly1358Ala) c.4019G>C (p.Gly1340Ala) c.3944G>C (p.Gly1315Ala) c.3539G>C (p.Gly1180Ala) c.2897G>C (p.Gly966Ala) c.407G>C (p.Gly136Ala) n.4322G>C | |
10 | g.71732155G= | CA1918849695 | C10orf105,CDH23 | c.3884G= (p.Gly1295=) c.3881G= (p.Gly1294=) c.3899G= (p.Gly1300=) c.-6+5573C= (n.-6+5573C=) n.576G= c.4079G= (p.Gly1360=) c.4013G= (p.Gly1338=) c.4073G= (p.Gly1358=) c.4019G= (p.Gly1340=) c.3944G= (p.Gly1315=) c.3539G= (p.Gly1180=) c.2897G= (p.Gly966=) c.407G= (p.Gly136=) n.4322G= | |
10 | g.71732155G>T | CA377156463 | C10orf105,CDH23 | c.3884G>T (p.Gly1295Val) c.3881G>T (p.Gly1294Val) c.3899G>T (p.Gly1300Val) c.-6+5573C>A (n.-6+5573C>A) n.576G>T c.4079G>T (p.Gly1360Val) c.4013G>T (p.Gly1338Val) c.4073G>T (p.Gly1358Val) c.4019G>T (p.Gly1340Val) c.3944G>T (p.Gly1315Val) c.3539G>T (p.Gly1180Val) c.2897G>T (p.Gly966Val) c.407G>T (p.Gly136Val) n.4322G>T | |
10 | g.71732156C>A | CA470283869 | C10orf105,CDH23 | c.3885C>A (p.Gly1295=) c.3882C>A (p.Gly1294=) c.3900C>A (p.Gly1300=) c.-6+5572G>T (n.-6+5572G>T) n.577C>A c.4080C>A (p.Gly1360=) c.4014C>A (p.Gly1338=) c.4074C>A (p.Gly1358=) c.4020C>A (p.Gly1340=) c.3945C>A (p.Gly1315=) c.3540C>A (p.Gly1180=) c.2898C>A (p.Gly966=) c.408C>A (p.Gly136=) n.4323C>A | dbSNP |
10 | g.71732156C>G | CA470283871 | C10orf105,CDH23 | c.3885C>G (p.Gly1295=) c.3882C>G (p.Gly1294=) c.3900C>G (p.Gly1300=) c.-6+5572G>C (n.-6+5572G>C) n.577C>G c.4080C>G (p.Gly1360=) c.4014C>G (p.Gly1338=) c.4074C>G (p.Gly1358=) c.4020C>G (p.Gly1340=) c.3945C>G (p.Gly1315=) c.3540C>G (p.Gly1180=) c.2898C>G (p.Gly966=) c.408C>G (p.Gly136=) n.4323C>G | |
10 | g.71732156C>T | CA470283873 | C10orf105,CDH23 | c.3885C>T (p.Gly1295=) c.3882C>T (p.Gly1294=) c.3900C>T (p.Gly1300=) c.-6+5572G>A (n.-6+5572G>A) n.577C>T c.4080C>T (p.Gly1360=) c.4014C>T (p.Gly1338=) c.4074C>T (p.Gly1358=) c.4020C>T (p.Gly1340=) c.3945C>T (p.Gly1315=) c.3540C>T (p.Gly1180=) c.2898C>T (p.Gly966=) c.408C>T (p.Gly136=) n.4323C>T | |
10 | g.71732157T>A | CA377156464 | C10orf105,CDH23 | c.3886T>A (p.Phe1296Ile) c.3883T>A (p.Phe1295Ile) c.3901T>A (p.Phe1301Ile) c.-6+5571A>T (n.-6+5571A>T) n.578T>A c.4081T>A (p.Phe1361Ile) c.4015T>A (p.Phe1339Ile) c.4075T>A (p.Phe1359Ile) c.4021T>A (p.Phe1341Ile) c.3946T>A (p.Phe1316Ile) c.3541T>A (p.Phe1181Ile) c.2899T>A (p.Phe967Ile) c.409T>A (p.Phe137Ile) n.4324T>A | |
10 | g.71732157T>C | CA377156465 | C10orf105,CDH23 | c.3886T>C (p.Phe1296Leu) c.3883T>C (p.Phe1295Leu) c.3901T>C (p.Phe1301Leu) c.-6+5571A>G (n.-6+5571A>G) n.578T>C c.4081T>C (p.Phe1361Leu) c.4015T>C (p.Phe1339Leu) c.4075T>C (p.Phe1359Leu) c.4021T>C (p.Phe1341Leu) c.3946T>C (p.Phe1316Leu) c.3541T>C (p.Phe1181Leu) c.2899T>C (p.Phe967Leu) c.409T>C (p.Phe137Leu) n.4324T>C | |
10 | g.71732157T>G | CA377156466 | C10orf105,CDH23 | c.3886T>G (p.Phe1296Val) c.3883T>G (p.Phe1295Val) c.3901T>G (p.Phe1301Val) c.-6+5571A>C (n.-6+5571A>C) n.578T>G c.4081T>G (p.Phe1361Val) c.4015T>G (p.Phe1339Val) c.4075T>G (p.Phe1359Val) c.4021T>G (p.Phe1341Val) c.3946T>G (p.Phe1316Val) c.3541T>G (p.Phe1181Val) c.2899T>G (p.Phe967Val) c.409T>G (p.Phe137Val) n.4324T>G | |
10 | g.71732158T>A | CA377156467 | C10orf105,CDH23 | c.3887T>A (p.Phe1296Tyr) c.3884T>A (p.Phe1295Tyr) c.3902T>A (p.Phe1301Tyr) c.-6+5570A>T (n.-6+5570A>T) n.579T>A c.4082T>A (p.Phe1361Tyr) c.4016T>A (p.Phe1339Tyr) c.4076T>A (p.Phe1359Tyr) c.4022T>A (p.Phe1341Tyr) c.3947T>A (p.Phe1316Tyr) c.3542T>A (p.Phe1181Tyr) c.2900T>A (p.Phe967Tyr) c.410T>A (p.Phe137Tyr) n.4325T>A | |
10 | g.71732158T>C | CA377156468 | C10orf105,CDH23 | c.3887T>C (p.Phe1296Ser) c.3884T>C (p.Phe1295Ser) c.3902T>C (p.Phe1301Ser) c.-6+5570A>G (n.-6+5570A>G) n.579T>C c.4082T>C (p.Phe1361Ser) c.4016T>C (p.Phe1339Ser) c.4076T>C (p.Phe1359Ser) c.4022T>C (p.Phe1341Ser) c.3947T>C (p.Phe1316Ser) c.3542T>C (p.Phe1181Ser) c.2900T>C (p.Phe967Ser) c.410T>C (p.Phe137Ser) n.4325T>C | dbSNP |
10 | g.71732158T>G | CA377156469 | C10orf105,CDH23 | c.3887T>G (p.Phe1296Cys) c.3884T>G (p.Phe1295Cys) c.3902T>G (p.Phe1301Cys) c.-6+5570A>C (n.-6+5570A>C) n.579T>G c.4082T>G (p.Phe1361Cys) c.4016T>G (p.Phe1339Cys) c.4076T>G (p.Phe1359Cys) c.4022T>G (p.Phe1341Cys) c.3947T>G (p.Phe1316Cys) c.3542T>G (p.Phe1181Cys) c.2900T>G (p.Phe967Cys) c.410T>G (p.Phe137Cys) n.4325T>G | |
10 | g.71732159C>A | CA377156471 | C10orf105,CDH23 | c.3888C>A (p.Phe1296Leu) c.3885C>A (p.Phe1295Leu) c.3903C>A (p.Phe1301Leu) c.-6+5569G>T (n.-6+5569G>T) n.580C>A c.4083C>A (p.Phe1361Leu) c.4017C>A (p.Phe1339Leu) c.4077C>A (p.Phe1359Leu) c.4023C>A (p.Phe1341Leu) c.3948C>A (p.Phe1316Leu) c.3543C>A (p.Phe1181Leu) c.2901C>A (p.Phe967Leu) c.411C>A (p.Phe137Leu) n.4326C>A | |
10 | g.71732159C>G | CA377156470 | C10orf105,CDH23 | c.3888C>G (p.Phe1296Leu) c.3885C>G (p.Phe1295Leu) c.3903C>G (p.Phe1301Leu) c.-6+5569G>C (n.-6+5569G>C) n.580C>G c.4083C>G (p.Phe1361Leu) c.4017C>G (p.Phe1339Leu) c.4077C>G (p.Phe1359Leu) c.4023C>G (p.Phe1341Leu) c.3948C>G (p.Phe1316Leu) c.3543C>G (p.Phe1181Leu) c.2901C>G (p.Phe967Leu) c.411C>G (p.Phe137Leu) n.4326C>G | |
10 | g.71732159C>T | CA470283879 | C10orf105,CDH23 | c.3888C>T (p.Phe1296=) c.3885C>T (p.Phe1295=) c.3903C>T (p.Phe1301=) c.-6+5569G>A (n.-6+5569G>A) n.580C>T c.4083C>T (p.Phe1361=) c.4017C>T (p.Phe1339=) c.4077C>T (p.Phe1359=) c.4023C>T (p.Phe1341=) c.3948C>T (p.Phe1316=) c.3543C>T (p.Phe1181=) c.2901C>T (p.Phe967=) c.411C>T (p.Phe137=) n.4326C>T | ClinVar |
10 | g.71732160T>A | CA377156472 | C10orf105,CDH23 | c.3889T>A (p.Cys1297Ser) c.3886T>A (p.Cys1296Ser) c.3904T>A (p.Cys1302Ser) c.-6+5568A>T (n.-6+5568A>T) n.581T>A c.4084T>A (p.Cys1362Ser) c.4018T>A (p.Cys1340Ser) c.4078T>A (p.Cys1360Ser) c.4024T>A (p.Cys1342Ser) c.3949T>A (p.Cys1317Ser) c.3544T>A (p.Cys1182Ser) c.2902T>A (p.Cys968Ser) c.412T>A (p.Cys138Ser) n.4327T>A | |
10 | g.71732160T>C | CA377156474 | C10orf105,CDH23 | c.3889T>C (p.Cys1297Arg) c.3886T>C (p.Cys1296Arg) c.3904T>C (p.Cys1302Arg) c.-6+5568A>G (n.-6+5568A>G) n.581T>C c.4084T>C (p.Cys1362Arg) c.4018T>C (p.Cys1340Arg) c.4078T>C (p.Cys1360Arg) c.4024T>C (p.Cys1342Arg) c.3949T>C (p.Cys1317Arg) c.3544T>C (p.Cys1182Arg) c.2902T>C (p.Cys968Arg) c.412T>C (p.Cys138Arg) n.4327T>C | |
10 | g.71732160T>G | CA377156473 | C10orf105,CDH23 | c.3889T>G (p.Cys1297Gly) c.3886T>G (p.Cys1296Gly) c.3904T>G (p.Cys1302Gly) c.-6+5568A>C (n.-6+5568A>C) n.581T>G c.4084T>G (p.Cys1362Gly) c.4018T>G (p.Cys1340Gly) c.4078T>G (p.Cys1360Gly) c.4024T>G (p.Cys1342Gly) c.3949T>G (p.Cys1317Gly) c.3544T>G (p.Cys1182Gly) c.2902T>G (p.Cys968Gly) c.412T>G (p.Cys138Gly) n.4327T>G | |
10 | g.71732161G>A | CA377156475 | C10orf105,CDH23 | c.3890G>A (p.Cys1297Tyr) c.3887G>A (p.Cys1296Tyr) c.3905G>A (p.Cys1302Tyr) c.-6+5567C>T (n.-6+5567C>T) n.582G>A c.4085G>A (p.Cys1362Tyr) c.4019G>A (p.Cys1340Tyr) c.4079G>A (p.Cys1360Tyr) c.4025G>A (p.Cys1342Tyr) c.3950G>A (p.Cys1317Tyr) c.3545G>A (p.Cys1182Tyr) c.2903G>A (p.Cys968Tyr) c.413G>A (p.Cys138Tyr) n.4328G>A | dbSNP |
10 | g.71732161G>C | CA377156477 | C10orf105,CDH23 | c.3890G>C (p.Cys1297Ser) c.3887G>C (p.Cys1296Ser) c.3905G>C (p.Cys1302Ser) c.-6+5567C>G (n.-6+5567C>G) n.582G>C c.4085G>C (p.Cys1362Ser) c.4019G>C (p.Cys1340Ser) c.4079G>C (p.Cys1360Ser) c.4025G>C (p.Cys1342Ser) c.3950G>C (p.Cys1317Ser) c.3545G>C (p.Cys1182Ser) c.2903G>C (p.Cys968Ser) c.413G>C (p.Cys138Ser) n.4328G>C | |
10 | g.71732161G>T | CA377156476 | C10orf105,CDH23 | c.3890G>T (p.Cys1297Phe) c.3887G>T (p.Cys1296Phe) c.3905G>T (p.Cys1302Phe) c.-6+5567C>A (n.-6+5567C>A) n.582G>T c.4085G>T (p.Cys1362Phe) c.4019G>T (p.Cys1340Phe) c.4079G>T (p.Cys1360Phe) c.4025G>T (p.Cys1342Phe) c.3950G>T (p.Cys1317Phe) c.3545G>T (p.Cys1182Phe) c.2903G>T (p.Cys968Phe) c.413G>T (p.Cys138Phe) n.4328G>T | |
10 | g.71732162C>A | CA377156478 | C10orf105,CDH23 | c.3891C>A (p.Cys1297Ter) c.3888C>A (p.Cys1296Ter) c.3906C>A (p.Cys1302Ter) c.-6+5566G>T (n.-6+5566G>T) n.583C>A c.4086C>A (p.Cys1362Ter) c.4020C>A (p.Cys1340Ter) c.4080C>A (p.Cys1360Ter) c.4026C>A (p.Cys1342Ter) c.3951C>A (p.Cys1317Ter) c.3546C>A (p.Cys1182Ter) c.2904C>A (p.Cys968Ter) c.414C>A (p.Cys138Ter) n.4329C>A | |
10 | g.71732162C>G | CA377156479 | C10orf105,CDH23 | c.3891C>G (p.Cys1297Trp) c.3888C>G (p.Cys1296Trp) c.3906C>G (p.Cys1302Trp) c.-6+5566G>C (n.-6+5566G>C) n.583C>G c.4086C>G (p.Cys1362Trp) c.4020C>G (p.Cys1340Trp) c.4080C>G (p.Cys1360Trp) c.4026C>G (p.Cys1342Trp) c.3951C>G (p.Cys1317Trp) c.3546C>G (p.Cys1182Trp) c.2904C>G (p.Cys968Trp) c.414C>G (p.Cys138Trp) n.4329C>G | |
10 | g.71732162C>T | CA470283886 | C10orf105,CDH23 | c.3891C>T (p.Cys1297=) c.3888C>T (p.Cys1296=) c.3906C>T (p.Cys1302=) c.-6+5566G>A (n.-6+5566G>A) n.583C>T c.4086C>T (p.Cys1362=) c.4020C>T (p.Cys1340=) c.4080C>T (p.Cys1360=) c.4026C>T (p.Cys1342=) c.3951C>T (p.Cys1317=) c.3546C>T (p.Cys1182=) c.2904C>T (p.Cys968=) c.414C>T (p.Cys138=) n.4329C>T | dbSNP |
10 | g.71732163A>C | CA377156480 | C10orf105,CDH23 | c.3892A>C (p.Ser1298Arg) c.3889A>C (p.Ser1297Arg) c.3907A>C (p.Ser1303Arg) c.-6+5565T>G (n.-6+5565T>G) n.584A>C c.4087A>C (p.Ser1363Arg) c.4021A>C (p.Ser1341Arg) c.4081A>C (p.Ser1361Arg) c.4027A>C (p.Ser1343Arg) c.3952A>C (p.Ser1318Arg) c.3547A>C (p.Ser1183Arg) c.2905A>C (p.Ser969Arg) c.415A>C (p.Ser139Arg) n.4330A>C | |
10 | g.71732163A>G | CA377156481 | C10orf105,CDH23 | c.3892A>G (p.Ser1298Gly) c.3889A>G (p.Ser1297Gly) c.3907A>G (p.Ser1303Gly) c.-6+5565T>C (n.-6+5565T>C) n.584A>G c.4087A>G (p.Ser1363Gly) c.4021A>G (p.Ser1341Gly) c.4081A>G (p.Ser1361Gly) c.4027A>G (p.Ser1343Gly) c.3952A>G (p.Ser1318Gly) c.3547A>G (p.Ser1183Gly) c.2905A>G (p.Ser969Gly) c.415A>G (p.Ser139Gly) n.4330A>G | |
10 | g.71732163A>T | CA377156482 | C10orf105,CDH23 | c.3892A>T (p.Ser1298Cys) c.3889A>T (p.Ser1297Cys) c.3907A>T (p.Ser1303Cys) c.-6+5565T>A (n.-6+5565T>A) n.584A>T c.4087A>T (p.Ser1363Cys) c.4021A>T (p.Ser1341Cys) c.4081A>T (p.Ser1361Cys) c.4027A>T (p.Ser1343Cys) c.3952A>T (p.Ser1318Cys) c.3547A>T (p.Ser1183Cys) c.2905A>T (p.Ser969Cys) c.415A>T (p.Ser139Cys) n.4330A>T | |
10 | g.71732164G>A | CA377156483 | C10orf105,CDH23 | c.3893G>A (p.Ser1298Asn) c.3890G>A (p.Ser1297Asn) c.3908G>A (p.Ser1303Asn) c.-6+5564C>T (n.-6+5564C>T) n.585G>A c.4088G>A (p.Ser1363Asn) c.4022G>A (p.Ser1341Asn) c.4082G>A (p.Ser1361Asn) c.4028G>A (p.Ser1343Asn) c.3953G>A (p.Ser1318Asn) c.3548G>A (p.Ser1183Asn) c.2906G>A (p.Ser969Asn) c.416G>A (p.Ser139Asn) n.4331G>A | |
10 | g.71732164G>C | CA377156484 | C10orf105,CDH23 | c.3893G>C (p.Ser1298Thr) c.3890G>C (p.Ser1297Thr) c.3908G>C (p.Ser1303Thr) c.-6+5564C>G (n.-6+5564C>G) n.585G>C c.4088G>C (p.Ser1363Thr) c.4022G>C (p.Ser1341Thr) c.4082G>C (p.Ser1361Thr) c.4028G>C (p.Ser1343Thr) c.3953G>C (p.Ser1318Thr) c.3548G>C (p.Ser1183Thr) c.2906G>C (p.Ser969Thr) c.416G>C (p.Ser139Thr) n.4331G>C | dbSNP |
10 | g.71732164G= | CA1918849696 | C10orf105,CDH23 | c.3893G= (p.Ser1298=) c.3890G= (p.Ser1297=) c.3908G= (p.Ser1303=) c.-6+5564C= (n.-6+5564C=) n.585G= c.4088G= (p.Ser1363=) c.4022G= (p.Ser1341=) c.4082G= (p.Ser1361=) c.4028G= (p.Ser1343=) c.3953G= (p.Ser1318=) c.3548G= (p.Ser1183=) c.2906G= (p.Ser969=) c.416G= (p.Ser139=) n.4331G= | |
10 | g.71732164G>T | CA5544861 | C10orf105,CDH23 | c.3893G>T (p.Ser1298Ile) c.3890G>T (p.Ser1297Ile) c.3908G>T (p.Ser1303Ile) c.-6+5564C>A (n.-6+5564C>A) n.585G>T c.4088G>T (p.Ser1363Ile) c.4022G>T (p.Ser1341Ile) c.4082G>T (p.Ser1361Ile) c.4028G>T (p.Ser1343Ile) c.3953G>T (p.Ser1318Ile) c.3548G>T (p.Ser1183Ile) c.2906G>T (p.Ser969Ile) c.416G>T (p.Ser139Ile) n.4331G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732165C>A | CA377156485 | C10orf105,CDH23 | c.3894C>A (p.Ser1298Arg) c.3891C>A (p.Ser1297Arg) c.3909C>A (p.Ser1303Arg) c.-6+5563G>T (n.-6+5563G>T) n.586C>A c.4089C>A (p.Ser1363Arg) c.4023C>A (p.Ser1341Arg) c.4083C>A (p.Ser1361Arg) c.4029C>A (p.Ser1343Arg) c.3954C>A (p.Ser1318Arg) c.3549C>A (p.Ser1183Arg) c.2907C>A (p.Ser969Arg) c.417C>A (p.Ser139Arg) n.4332C>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732165C= | CA1918849697 | C10orf105,CDH23 | c.3894C= (p.Ser1298=) c.3891C= (p.Ser1297=) c.3909C= (p.Ser1303=) c.-6+5563G= (n.-6+5563G=) n.586C= c.4089C= (p.Ser1363=) c.4023C= (p.Ser1341=) c.4083C= (p.Ser1361=) c.4029C= (p.Ser1343=) c.3954C= (p.Ser1318=) c.3549C= (p.Ser1183=) c.2907C= (p.Ser969=) c.417C= (p.Ser139=) n.4332C= | |
10 | g.71732165C>G | CA377156486 | C10orf105,CDH23 | c.3894C>G (p.Ser1298Arg) c.3891C>G (p.Ser1297Arg) c.3909C>G (p.Ser1303Arg) c.-6+5563G>C (n.-6+5563G>C) n.586C>G c.4089C>G (p.Ser1363Arg) c.4023C>G (p.Ser1341Arg) c.4083C>G (p.Ser1361Arg) c.4029C>G (p.Ser1343Arg) c.3954C>G (p.Ser1318Arg) c.3549C>G (p.Ser1183Arg) c.2907C>G (p.Ser969Arg) c.417C>G (p.Ser139Arg) n.4332C>G | |
10 | g.71732165C>T | CA5544862 | C10orf105,CDH23 | c.3894C>T (p.Ser1298=) c.3891C>T (p.Ser1297=) c.3909C>T (p.Ser1303=) c.-6+5563G>A (n.-6+5563G>A) n.586C>T c.4089C>T (p.Ser1363=) c.4023C>T (p.Ser1341=) c.4083C>T (p.Ser1361=) c.4029C>T (p.Ser1343=) c.3954C>T (p.Ser1318=) c.3549C>T (p.Ser1183=) c.2907C>T (p.Ser969=) c.417C>T (p.Ser139=) n.4332C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732166G>A | CA137399 | C10orf105,CDH23 | c.3895G>A (p.Val1299Ile) c.3892G>A (p.Val1298Ile) c.3910G>A (p.Val1304Ile) c.-6+5562C>T (n.-6+5562C>T) n.587G>A c.4090G>A (p.Val1364Ile) c.4024G>A (p.Val1342Ile) c.4084G>A (p.Val1362Ile) c.4030G>A (p.Val1344Ile) c.3955G>A (p.Val1319Ile) c.3550G>A (p.Val1184Ile) c.2908G>A (p.Val970Ile) c.418G>A (p.Val140Ile) n.4333G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71732166G>C | CA377156488 | C10orf105,CDH23 | c.3895G>C (p.Val1299Leu) c.3892G>C (p.Val1298Leu) c.3910G>C (p.Val1304Leu) c.-6+5562C>G (n.-6+5562C>G) n.587G>C c.4090G>C (p.Val1364Leu) c.4024G>C (p.Val1342Leu) c.4084G>C (p.Val1362Leu) c.4030G>C (p.Val1344Leu) c.3955G>C (p.Val1319Leu) c.3550G>C (p.Val1184Leu) c.2908G>C (p.Val970Leu) c.418G>C (p.Val140Leu) n.4333G>C | gnomAD v4 |
10 | g.71732166G= | CA1918849698 | C10orf105,CDH23 | c.3895G= (p.Val1299=) c.3892G= (p.Val1298=) c.3910G= (p.Val1304=) c.-6+5562C= (n.-6+5562C=) n.587G= c.4090G= (p.Val1364=) c.4024G= (p.Val1342=) c.4084G= (p.Val1362=) c.4030G= (p.Val1344=) c.3955G= (p.Val1319=) c.3550G= (p.Val1184=) c.2908G= (p.Val970=) c.418G= (p.Val140=) n.4333G= | |
10 | g.71732166G>T | CA377156487 | C10orf105,CDH23 | c.3895G>T (p.Val1299Phe) c.3892G>T (p.Val1298Phe) c.3910G>T (p.Val1304Phe) c.-6+5562C>A (n.-6+5562C>A) n.587G>T c.4090G>T (p.Val1364Phe) c.4024G>T (p.Val1342Phe) c.4084G>T (p.Val1362Phe) c.4030G>T (p.Val1344Phe) c.3955G>T (p.Val1319Phe) c.3550G>T (p.Val1184Phe) c.2908G>T (p.Val970Phe) c.418G>T (p.Val140Phe) n.4333G>T | |
10 | g.71732167T>A | CA377156489 | C10orf105,CDH23 | c.3896T>A (p.Val1299Asp) c.3893T>A (p.Val1298Asp) c.3911T>A (p.Val1304Asp) c.-6+5561A>T (n.-6+5561A>T) n.588T>A c.4091T>A (p.Val1364Asp) c.4025T>A (p.Val1342Asp) c.4085T>A (p.Val1362Asp) c.4031T>A (p.Val1344Asp) c.3956T>A (p.Val1319Asp) c.3551T>A (p.Val1184Asp) c.2909T>A (p.Val970Asp) c.419T>A (p.Val140Asp) n.4334T>A | dbSNP |
10 | g.71732167T>C | CA377156490 | C10orf105,CDH23 | c.3896T>C (p.Val1299Ala) c.3893T>C (p.Val1298Ala) c.3911T>C (p.Val1304Ala) c.-6+5561A>G (n.-6+5561A>G) n.588T>C c.4091T>C (p.Val1364Ala) c.4025T>C (p.Val1342Ala) c.4085T>C (p.Val1362Ala) c.4031T>C (p.Val1344Ala) c.3956T>C (p.Val1319Ala) c.3551T>C (p.Val1184Ala) c.2909T>C (p.Val970Ala) c.419T>C (p.Val140Ala) n.4334T>C | |
10 | g.71732167T>G | CA377156491 | C10orf105,CDH23 | c.3896T>G (p.Val1299Gly) c.3893T>G (p.Val1298Gly) c.3911T>G (p.Val1304Gly) c.-6+5561A>C (n.-6+5561A>C) n.588T>G c.4091T>G (p.Val1364Gly) c.4025T>G (p.Val1342Gly) c.4085T>G (p.Val1362Gly) c.4031T>G (p.Val1344Gly) c.3956T>G (p.Val1319Gly) c.3551T>G (p.Val1184Gly) c.2909T>G (p.Val970Gly) c.419T>G (p.Val140Gly) n.4334T>G | |
10 | g.71732168C>A | CA470283897 | C10orf105,CDH23 | c.3897C>A (p.Val1299=) c.3894C>A (p.Val1298=) c.3912C>A (p.Val1304=) c.-6+5560G>T (n.-6+5560G>T) n.589C>A c.4092C>A (p.Val1364=) c.4026C>A (p.Val1342=) c.4086C>A (p.Val1362=) c.4032C>A (p.Val1344=) c.3957C>A (p.Val1319=) c.3552C>A (p.Val1184=) c.2910C>A (p.Val970=) c.420C>A (p.Val140=) n.4335C>A | gnomAD v4 |
10 | g.71732168C= | CA1918849699 | C10orf105,CDH23 | c.3897C= (p.Val1299=) c.3894C= (p.Val1298=) c.3912C= (p.Val1304=) c.-6+5560G= (n.-6+5560G=) n.589C= c.4092C= (p.Val1364=) c.4026C= (p.Val1342=) c.4086C= (p.Val1362=) c.4032C= (p.Val1344=) c.3957C= (p.Val1319=) c.3552C= (p.Val1184=) c.2910C= (p.Val970=) c.420C= (p.Val140=) n.4335C= | |
10 | g.71732168C>G | CA470283898 | C10orf105,CDH23 | c.3897C>G (p.Val1299=) c.3894C>G (p.Val1298=) c.3912C>G (p.Val1304=) c.-6+5560G>C (n.-6+5560G>C) n.589C>G c.4092C>G (p.Val1364=) c.4026C>G (p.Val1342=) c.4086C>G (p.Val1362=) c.4032C>G (p.Val1344=) c.3957C>G (p.Val1319=) c.3552C>G (p.Val1184=) c.2910C>G (p.Val970=) c.420C>G (p.Val140=) n.4335C>G | dbSNP |
10 | g.71732168C>T | CA470283899 | C10orf105,CDH23 | c.3897C>T (p.Val1299=) c.3894C>T (p.Val1298=) c.3912C>T (p.Val1304=) c.-6+5560G>A (n.-6+5560G>A) n.589C>T c.4092C>T (p.Val1364=) c.4026C>T (p.Val1342=) c.4086C>T (p.Val1362=) c.4032C>T (p.Val1344=) c.3957C>T (p.Val1319=) c.3552C>T (p.Val1184=) c.2910C>T (p.Val970=) c.420C>T (p.Val140=) n.4335C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71732169T>A | CA377156492 | C10orf105,CDH23 | c.3898T>A (p.Tyr1300Asn) c.3895T>A (p.Tyr1299Asn) c.3913T>A (p.Tyr1305Asn) c.-6+5559A>T (n.-6+5559A>T) n.590T>A c.4093T>A (p.Tyr1365Asn) c.4027T>A (p.Tyr1343Asn) c.4087T>A (p.Tyr1363Asn) c.4033T>A (p.Tyr1345Asn) c.3958T>A (p.Tyr1320Asn) c.3553T>A (p.Tyr1185Asn) c.2911T>A (p.Tyr971Asn) c.421T>A (p.Tyr141Asn) n.4336T>A | |
10 | g.71732169T>C | CA377156493 | C10orf105,CDH23 | c.3898T>C (p.Tyr1300His) c.3895T>C (p.Tyr1299His) c.3913T>C (p.Tyr1305His) c.-6+5559A>G (n.-6+5559A>G) n.590T>C c.4093T>C (p.Tyr1365His) c.4027T>C (p.Tyr1343His) c.4087T>C (p.Tyr1363His) c.4033T>C (p.Tyr1345His) c.3958T>C (p.Tyr1320His) c.3553T>C (p.Tyr1185His) c.2911T>C (p.Tyr971His) c.421T>C (p.Tyr141His) n.4336T>C | |
10 | g.71732169T>G | CA377156494 | C10orf105,CDH23 | c.3898T>G (p.Tyr1300Asp) c.3895T>G (p.Tyr1299Asp) c.3913T>G (p.Tyr1305Asp) c.-6+5559A>C (n.-6+5559A>C) n.590T>G c.4093T>G (p.Tyr1365Asp) c.4027T>G (p.Tyr1343Asp) c.4087T>G (p.Tyr1363Asp) c.4033T>G (p.Tyr1345Asp) c.3958T>G (p.Tyr1320Asp) c.3553T>G (p.Tyr1185Asp) c.2911T>G (p.Tyr971Asp) c.421T>G (p.Tyr141Asp) n.4336T>G | |
10 | g.71732170A= | CA1918849700 | C10orf105,CDH23 | c.3899A= (p.Tyr1300=) c.3896A= (p.Tyr1299=) c.3914A= (p.Tyr1305=) c.-6+5558T= (n.-6+5558T=) n.591A= c.4094A= (p.Tyr1365=) c.4028A= (p.Tyr1343=) c.4088A= (p.Tyr1363=) c.4034A= (p.Tyr1345=) c.3959A= (p.Tyr1320=) c.3554A= (p.Tyr1185=) c.2912A= (p.Tyr971=) c.422A= (p.Tyr141=) n.4337A= | |
10 | g.71732170A>C | CA377156495 | C10orf105,CDH23 | c.3899A>C (p.Tyr1300Ser) c.3896A>C (p.Tyr1299Ser) c.3914A>C (p.Tyr1305Ser) c.-6+5558T>G (n.-6+5558T>G) n.591A>C c.4094A>C (p.Tyr1365Ser) c.4028A>C (p.Tyr1343Ser) c.4088A>C (p.Tyr1363Ser) c.4034A>C (p.Tyr1345Ser) c.3959A>C (p.Tyr1320Ser) c.3554A>C (p.Tyr1185Ser) c.2912A>C (p.Tyr971Ser) c.422A>C (p.Tyr141Ser) n.4337A>C | |
10 | g.71732170A>G | CA377156496 | C10orf105,CDH23 | c.3899A>G (p.Tyr1300Cys) c.3896A>G (p.Tyr1299Cys) c.3914A>G (p.Tyr1305Cys) c.-6+5558T>C (n.-6+5558T>C) n.591A>G c.4094A>G (p.Tyr1365Cys) c.4028A>G (p.Tyr1343Cys) c.4088A>G (p.Tyr1363Cys) c.4034A>G (p.Tyr1345Cys) c.3959A>G (p.Tyr1320Cys) c.3554A>G (p.Tyr1185Cys) c.2912A>G (p.Tyr971Cys) c.422A>G (p.Tyr141Cys) n.4337A>G | ClinVar dbSNP |
10 | g.71732170A>T | CA377156497 | C10orf105,CDH23 | c.3899A>T (p.Tyr1300Phe) c.3896A>T (p.Tyr1299Phe) c.3914A>T (p.Tyr1305Phe) c.-6+5558T>A (n.-6+5558T>A) n.591A>T c.4094A>T (p.Tyr1365Phe) c.4028A>T (p.Tyr1343Phe) c.4088A>T (p.Tyr1363Phe) c.4034A>T (p.Tyr1345Phe) c.3959A>T (p.Tyr1320Phe) c.3554A>T (p.Tyr1185Phe) c.2912A>T (p.Tyr971Phe) c.422A>T (p.Tyr141Phe) n.4337A>T | |
10 | g.71732171C>A | CA377156498 | C10orf105,CDH23 | c.3900C>A (p.Tyr1300Ter) c.3897C>A (p.Tyr1299Ter) c.3915C>A (p.Tyr1305Ter) c.-6+5557G>T (n.-6+5557G>T) n.592C>A c.4095C>A (p.Tyr1365Ter) c.4029C>A (p.Tyr1343Ter) c.4089C>A (p.Tyr1363Ter) c.4035C>A (p.Tyr1345Ter) c.3960C>A (p.Tyr1320Ter) c.3555C>A (p.Tyr1185Ter) c.2913C>A (p.Tyr971Ter) c.423C>A (p.Tyr141Ter) n.4338C>A | |
10 | g.71732171C= | CA1918849701 | C10orf105,CDH23 | c.3900C= (p.Tyr1300=) c.3897C= (p.Tyr1299=) c.3915C= (p.Tyr1305=) c.-6+5557G= (n.-6+5557G=) n.592C= c.4095C= (p.Tyr1365=) c.4029C= (p.Tyr1343=) c.4089C= (p.Tyr1363=) c.4035C= (p.Tyr1345=) c.3960C= (p.Tyr1320=) c.3555C= (p.Tyr1185=) c.2913C= (p.Tyr971=) c.423C= (p.Tyr141=) n.4338C= | |
10 | g.71732171C>G | CA377156499 | C10orf105,CDH23 | c.3900C>G (p.Tyr1300Ter) c.3897C>G (p.Tyr1299Ter) c.3915C>G (p.Tyr1305Ter) c.-6+5557G>C (n.-6+5557G>C) n.592C>G c.4095C>G (p.Tyr1365Ter) c.4029C>G (p.Tyr1343Ter) c.4089C>G (p.Tyr1363Ter) c.4035C>G (p.Tyr1345Ter) c.3960C>G (p.Tyr1320Ter) c.3555C>G (p.Tyr1185Ter) c.2913C>G (p.Tyr971Ter) c.423C>G (p.Tyr141Ter) n.4338C>G | |
10 | g.71732171C>T | CA470283904 | C10orf105,CDH23 | c.3900C>T (p.Tyr1300=) c.3897C>T (p.Tyr1299=) c.3915C>T (p.Tyr1305=) c.-6+5557G>A (n.-6+5557G>A) n.592C>T c.4095C>T (p.Tyr1365=) c.4029C>T (p.Tyr1343=) c.4089C>T (p.Tyr1363=) c.4035C>T (p.Tyr1345=) c.3960C>T (p.Tyr1320=) c.3555C>T (p.Tyr1185=) c.2913C>T (p.Tyr971=) c.423C>T (p.Tyr141=) n.4338C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732172A= | CA1918849702 | C10orf105,CDH23 | c.3901A= (p.Ile1301=) c.3898A= (p.Ile1300=) c.3916A= (p.Ile1306=) c.-6+5556T= (n.-6+5556T=) n.593A= c.4096A= (p.Ile1366=) c.4030A= (p.Ile1344=) c.4090A= (p.Ile1364=) c.4036A= (p.Ile1346=) c.3961A= (p.Ile1321=) c.3556A= (p.Ile1186=) c.2914A= (p.Ile972=) c.424A= (p.Ile142=) n.4339A= | |
10 | g.71732172A>C | CA377156501 | C10orf105,CDH23 | c.3901A>C (p.Ile1301Leu) c.3898A>C (p.Ile1300Leu) c.3916A>C (p.Ile1306Leu) c.-6+5556T>G (n.-6+5556T>G) n.593A>C c.4096A>C (p.Ile1366Leu) c.4030A>C (p.Ile1344Leu) c.4090A>C (p.Ile1364Leu) c.4036A>C (p.Ile1346Leu) c.3961A>C (p.Ile1321Leu) c.3556A>C (p.Ile1186Leu) c.2914A>C (p.Ile972Leu) c.424A>C (p.Ile142Leu) n.4339A>C | |
10 | g.71732172A>G | CA5544863 | C10orf105,CDH23 | c.3901A>G (p.Ile1301Val) c.3898A>G (p.Ile1300Val) c.3916A>G (p.Ile1306Val) c.-6+5556T>C (n.-6+5556T>C) n.593A>G c.4096A>G (p.Ile1366Val) c.4030A>G (p.Ile1344Val) c.4090A>G (p.Ile1364Val) c.4036A>G (p.Ile1346Val) c.3961A>G (p.Ile1321Val) c.3556A>G (p.Ile1186Val) c.2914A>G (p.Ile972Val) c.424A>G (p.Ile142Val) n.4339A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732172A>T | CA377156500 | C10orf105,CDH23 | c.3901A>T (p.Ile1301Phe) c.3898A>T (p.Ile1300Phe) c.3916A>T (p.Ile1306Phe) c.-6+5556T>A (n.-6+5556T>A) n.593A>T c.4096A>T (p.Ile1366Phe) c.4030A>T (p.Ile1344Phe) c.4090A>T (p.Ile1364Phe) c.4036A>T (p.Ile1346Phe) c.3961A>T (p.Ile1321Phe) c.3556A>T (p.Ile1186Phe) c.2914A>T (p.Ile972Phe) c.424A>T (p.Ile142Phe) n.4339A>T | |
10 | g.71732173T>A | CA377156502 | C10orf105,CDH23 | c.3902T>A (p.Ile1301Asn) c.3899T>A (p.Ile1300Asn) c.3917T>A (p.Ile1306Asn) c.-6+5555A>T (n.-6+5555A>T) n.594T>A c.4097T>A (p.Ile1366Asn) c.4031T>A (p.Ile1344Asn) c.4091T>A (p.Ile1364Asn) c.4037T>A (p.Ile1346Asn) c.3962T>A (p.Ile1321Asn) c.3557T>A (p.Ile1186Asn) c.2915T>A (p.Ile972Asn) c.425T>A (p.Ile142Asn) n.4340T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732173T>C | CA5544864 | C10orf105,CDH23 | c.3902T>C (p.Ile1301Thr) c.3899T>C (p.Ile1300Thr) c.3917T>C (p.Ile1306Thr) c.-6+5555A>G (n.-6+5555A>G) n.594T>C c.4097T>C (p.Ile1366Thr) c.4031T>C (p.Ile1344Thr) c.4091T>C (p.Ile1364Thr) c.4037T>C (p.Ile1346Thr) c.3962T>C (p.Ile1321Thr) c.3557T>C (p.Ile1186Thr) c.2915T>C (p.Ile972Thr) c.425T>C (p.Ile142Thr) n.4340T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732173T>G | CA377156503 | C10orf105,CDH23 | c.3902T>G (p.Ile1301Ser) c.3899T>G (p.Ile1300Ser) c.3917T>G (p.Ile1306Ser) c.-6+5555A>C (n.-6+5555A>C) n.594T>G c.4097T>G (p.Ile1366Ser) c.4031T>G (p.Ile1344Ser) c.4091T>G (p.Ile1364Ser) c.4037T>G (p.Ile1346Ser) c.3962T>G (p.Ile1321Ser) c.3557T>G (p.Ile1186Ser) c.2915T>G (p.Ile972Ser) c.425T>G (p.Ile142Ser) n.4340T>G | |
10 | g.71732173T= | CA1918849703 | C10orf105,CDH23 | c.3902T= (p.Ile1301=) c.3899T= (p.Ile1300=) c.3917T= (p.Ile1306=) c.-6+5555A= (n.-6+5555A=) n.594T= c.4097T= (p.Ile1366=) c.4031T= (p.Ile1344=) c.4091T= (p.Ile1364=) c.4037T= (p.Ile1346=) c.3962T= (p.Ile1321=) c.3557T= (p.Ile1186=) c.2915T= (p.Ile972=) c.425T= (p.Ile142=) n.4340T= | |
10 | g.71732174C>A | CA470283912 | C10orf105,CDH23 | c.3903C>A (p.Ile1301=) c.3900C>A (p.Ile1300=) c.3918C>A (p.Ile1306=) c.-6+5554G>T (n.-6+5554G>T) n.595C>A c.4098C>A (p.Ile1366=) c.4032C>A (p.Ile1344=) c.4092C>A (p.Ile1364=) c.4038C>A (p.Ile1346=) c.3963C>A (p.Ile1321=) c.3558C>A (p.Ile1186=) c.2916C>A (p.Ile972=) c.426C>A (p.Ile142=) n.4341C>A | |
10 | g.71732174C>G | CA377156504 | C10orf105,CDH23 | c.3903C>G (p.Ile1301Met) c.3900C>G (p.Ile1300Met) c.3918C>G (p.Ile1306Met) c.-6+5554G>C (n.-6+5554G>C) n.595C>G c.4098C>G (p.Ile1366Met) c.4032C>G (p.Ile1344Met) c.4092C>G (p.Ile1364Met) c.4038C>G (p.Ile1346Met) c.3963C>G (p.Ile1321Met) c.3558C>G (p.Ile1186Met) c.2916C>G (p.Ile972Met) c.426C>G (p.Ile142Met) n.4341C>G | |
10 | g.71732174C>T | CA470283909 | C10orf105,CDH23 | c.3903C>T (p.Ile1301=) c.3900C>T (p.Ile1300=) c.3918C>T (p.Ile1306=) c.-6+5554G>A (n.-6+5554G>A) n.595C>T c.4098C>T (p.Ile1366=) c.4032C>T (p.Ile1344=) c.4092C>T (p.Ile1364=) c.4038C>T (p.Ile1346=) c.3963C>T (p.Ile1321=) c.3558C>T (p.Ile1186=) c.2916C>T (p.Ile972=) c.426C>T (p.Ile142=) n.4341C>T | |
10 | g.71732175A>C | CA377156505 | C10orf105,CDH23 | c.3904A>C (p.Thr1302Pro) c.3901A>C (p.Thr1301Pro) c.3919A>C (p.Thr1307Pro) c.-6+5553T>G (n.-6+5553T>G) n.596A>C c.4099A>C (p.Thr1367Pro) c.4033A>C (p.Thr1345Pro) c.4093A>C (p.Thr1365Pro) c.4039A>C (p.Thr1347Pro) c.3964A>C (p.Thr1322Pro) c.3559A>C (p.Thr1187Pro) c.2917A>C (p.Thr973Pro) c.427A>C (p.Thr143Pro) n.4342A>C | |
10 | g.71732175A>G | CA377156506 | C10orf105,CDH23 | c.3904A>G (p.Thr1302Ala) c.3901A>G (p.Thr1301Ala) c.3919A>G (p.Thr1307Ala) c.-6+5553T>C (n.-6+5553T>C) n.596A>G c.4099A>G (p.Thr1367Ala) c.4033A>G (p.Thr1345Ala) c.4093A>G (p.Thr1365Ala) c.4039A>G (p.Thr1347Ala) c.3964A>G (p.Thr1322Ala) c.3559A>G (p.Thr1187Ala) c.2917A>G (p.Thr973Ala) c.427A>G (p.Thr143Ala) n.4342A>G | |
10 | g.71732175A>T | CA377156507 | C10orf105,CDH23 | c.3904A>T (p.Thr1302Ser) c.3901A>T (p.Thr1301Ser) c.3919A>T (p.Thr1307Ser) c.-6+5553T>A (n.-6+5553T>A) n.596A>T c.4099A>T (p.Thr1367Ser) c.4033A>T (p.Thr1345Ser) c.4093A>T (p.Thr1365Ser) c.4039A>T (p.Thr1347Ser) c.3964A>T (p.Thr1322Ser) c.3559A>T (p.Thr1187Ser) c.2917A>T (p.Thr973Ser) c.427A>T (p.Thr143Ser) n.4342A>T | |
10 | g.71732175_71732177delinsACT | CA1918849704 | C10orf105,CDH23 | c.3904_3906delinsACT (p.Thr1302=) c.3901_3903delinsACT (p.Thr1301=) c.3919_3921delinsACT (p.Thr1307=) c.-6+5551_-6+5553delinsAGT (n.-6+5551_-6+5553delinsAGT) n.596_598delinsACT c.4099_4101delinsACT (p.Thr1367=) c.4033_4035delinsACT (p.Thr1345=) c.4093_4095delinsACT (p.Thr1365=) c.4039_4041delinsACT (p.Thr1347=) c.3964_3966delinsACT (p.Thr1322=) c.3559_3561delinsACT (p.Thr1187=) c.2917_2919delinsACT (p.Thr973=) c.427_429delinsACT (p.Thr143=) n.4342_4344delinsACT | |
10 | g.71732176C>A | CA377156508 | C10orf105,CDH23 | c.3905C>A (p.Thr1302Asn) c.3902C>A (p.Thr1301Asn) c.3920C>A (p.Thr1307Asn) c.-6+5552G>T (n.-6+5552G>T) n.597C>A c.4100C>A (p.Thr1367Asn) c.4034C>A (p.Thr1345Asn) c.4094C>A (p.Thr1365Asn) c.4040C>A (p.Thr1347Asn) c.3965C>A (p.Thr1322Asn) c.3560C>A (p.Thr1187Asn) c.2918C>A (p.Thr973Asn) c.428C>A (p.Thr143Asn) n.4343C>A | dbSNP |
10 | g.71732176C= | CA1918849705 | C10orf105,CDH23 | c.3905C= (p.Thr1302=) c.3902C= (p.Thr1301=) c.3920C= (p.Thr1307=) c.-6+5552G= (n.-6+5552G=) n.597C= c.4100C= (p.Thr1367=) c.4034C= (p.Thr1345=) c.4094C= (p.Thr1365=) c.4040C= (p.Thr1347=) c.3965C= (p.Thr1322=) c.3560C= (p.Thr1187=) c.2918C= (p.Thr973=) c.428C= (p.Thr143=) n.4343C= | |
10 | g.71732176C>G | CA5544865 | C10orf105,CDH23 | c.3905C>G (p.Thr1302Ser) c.3902C>G (p.Thr1301Ser) c.3920C>G (p.Thr1307Ser) c.-6+5552G>C (n.-6+5552G>C) n.597C>G c.4100C>G (p.Thr1367Ser) c.4034C>G (p.Thr1345Ser) c.4094C>G (p.Thr1365Ser) c.4040C>G (p.Thr1347Ser) c.3965C>G (p.Thr1322Ser) c.3560C>G (p.Thr1187Ser) c.2918C>G (p.Thr973Ser) c.428C>G (p.Thr143Ser) n.4343C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732176C>T | CA377156509 | C10orf105,CDH23 | c.3905C>T (p.Thr1302Ile) c.3902C>T (p.Thr1301Ile) c.3920C>T (p.Thr1307Ile) c.-6+5552G>A (n.-6+5552G>A) n.597C>T c.4100C>T (p.Thr1367Ile) c.4034C>T (p.Thr1345Ile) c.4094C>T (p.Thr1365Ile) c.4040C>T (p.Thr1347Ile) c.3965C>T (p.Thr1322Ile) c.3560C>T (p.Thr1187Ile) c.2918C>T (p.Thr973Ile) c.428C>T (p.Thr143Ile) n.4343C>T | dbSNP gnomAD v4 |
10 | g.71732178_71732179del | CA929788743 | C10orf105,CDH23 | c.3907_3908del (p.Leu1303AlafsTer28) c.3904_3905del (p.Leu1302AlafsTer28) c.3922_3923del (p.Leu1308AlafsTer28) c.-6+5551_-6+5552del (n.-6+5551_-6+5552del) n.599_600del c.4102_4103del (p.Leu1368AlafsTer28) c.4036_4037del (p.Leu1346AlafsTer28) c.4096_4097del (p.Leu1366AlafsTer28) c.4042_4043del (p.Leu1348AlafsTer28) c.3967_3968del (p.Leu1323AlafsTer28) c.3562_3563del (p.Leu1188AlafsTer28) c.2920_2921del (p.Leu974AlafsTer28) c.430_431del (p.Leu144AlafsTer28) n.4345_4346del | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71732177T>A | CA470283923 | C10orf105,CDH23 | c.3906T>A (p.Thr1302=) c.3903T>A (p.Thr1301=) c.3921T>A (p.Thr1307=) c.-6+5551A>T (n.-6+5551A>T) n.598T>A c.4101T>A (p.Thr1367=) c.4035T>A (p.Thr1345=) c.4095T>A (p.Thr1365=) c.4041T>A (p.Thr1347=) c.3966T>A (p.Thr1322=) c.3561T>A (p.Thr1187=) c.2919T>A (p.Thr973=) c.429T>A (p.Thr143=) n.4344T>A | |
10 | g.71732177T>C | CA470283926 | C10orf105,CDH23 | c.3906T>C (p.Thr1302=) c.3903T>C (p.Thr1301=) c.3921T>C (p.Thr1307=) c.-6+5551A>G (n.-6+5551A>G) n.598T>C c.4101T>C (p.Thr1367=) c.4035T>C (p.Thr1345=) c.4095T>C (p.Thr1365=) c.4041T>C (p.Thr1347=) c.3966T>C (p.Thr1322=) c.3561T>C (p.Thr1187=) c.2919T>C (p.Thr973=) c.429T>C (p.Thr143=) n.4344T>C | |
10 | g.71732177T>G | CA470283930 | C10orf105,CDH23 | c.3906T>G (p.Thr1302=) c.3903T>G (p.Thr1301=) c.3921T>G (p.Thr1307=) c.-6+5551A>C (n.-6+5551A>C) n.598T>G c.4101T>G (p.Thr1367=) c.4035T>G (p.Thr1345=) c.4095T>G (p.Thr1365=) c.4041T>G (p.Thr1347=) c.3966T>G (p.Thr1322=) c.3561T>G (p.Thr1187=) c.2919T>G (p.Thr973=) c.429T>G (p.Thr143=) n.4344T>G | |
10 | g.71732178C>A | CA377156510 | C10orf105,CDH23 | c.3907C>A (p.Leu1303Met) c.3904C>A (p.Leu1302Met) c.3922C>A (p.Leu1308Met) c.-6+5550G>T (n.-6+5550G>T) n.599C>A c.4102C>A (p.Leu1368Met) c.4036C>A (p.Leu1346Met) c.4096C>A (p.Leu1366Met) c.4042C>A (p.Leu1348Met) c.3967C>A (p.Leu1323Met) c.3562C>A (p.Leu1188Met) c.2920C>A (p.Leu974Met) c.430C>A (p.Leu144Met) n.4345C>A | COSMIC COSMIC |
10 | g.71732178C>G | CA377156511 | C10orf105,CDH23 | c.3907C>G (p.Leu1303Val) c.3904C>G (p.Leu1302Val) c.3922C>G (p.Leu1308Val) c.-6+5550G>C (n.-6+5550G>C) n.599C>G c.4102C>G (p.Leu1368Val) c.4036C>G (p.Leu1346Val) c.4096C>G (p.Leu1366Val) c.4042C>G (p.Leu1348Val) c.3967C>G (p.Leu1323Val) c.3562C>G (p.Leu1188Val) c.2920C>G (p.Leu974Val) c.430C>G (p.Leu144Val) n.4345C>G | |
10 | g.71732178C>T | CA470283935 | C10orf105,CDH23 | c.3907C>T (p.Leu1303=) c.3904C>T (p.Leu1302=) c.3922C>T (p.Leu1308=) c.-6+5550G>A (n.-6+5550G>A) n.599C>T c.4102C>T (p.Leu1368=) c.4036C>T (p.Leu1346=) c.4096C>T (p.Leu1366=) c.4042C>T (p.Leu1348=) c.3967C>T (p.Leu1323=) c.3562C>T (p.Leu1188=) c.2920C>T (p.Leu974=) c.430C>T (p.Leu144=) n.4345C>T | |
10 | g.71732179T>A | CA377156513 | C10orf105,CDH23 | c.3908T>A (p.Leu1303Gln) c.3905T>A (p.Leu1302Gln) c.3923T>A (p.Leu1308Gln) c.-6+5549A>T (n.-6+5549A>T) n.600T>A c.4103T>A (p.Leu1368Gln) c.4037T>A (p.Leu1346Gln) c.4097T>A (p.Leu1366Gln) c.4043T>A (p.Leu1348Gln) c.3968T>A (p.Leu1323Gln) c.3563T>A (p.Leu1188Gln) c.2921T>A (p.Leu974Gln) c.431T>A (p.Leu144Gln) n.4346T>A | |
10 | g.71732179T>C | CA377156512 | C10orf105,CDH23 | c.3908T>C (p.Leu1303Pro) c.3905T>C (p.Leu1302Pro) c.3923T>C (p.Leu1308Pro) c.-6+5549A>G (n.-6+5549A>G) n.600T>C c.4103T>C (p.Leu1368Pro) c.4037T>C (p.Leu1346Pro) c.4097T>C (p.Leu1366Pro) c.4043T>C (p.Leu1348Pro) c.3968T>C (p.Leu1323Pro) c.3563T>C (p.Leu1188Pro) c.2921T>C (p.Leu974Pro) c.431T>C (p.Leu144Pro) n.4346T>C | |
10 | g.71732179T>G | CA209480532 | C10orf105,CDH23 | c.3908T>G (p.Leu1303Arg) c.3905T>G (p.Leu1302Arg) c.3923T>G (p.Leu1308Arg) c.-6+5549A>C (n.-6+5549A>C) n.600T>G c.4103T>G (p.Leu1368Arg) c.4037T>G (p.Leu1346Arg) c.4097T>G (p.Leu1366Arg) c.4043T>G (p.Leu1348Arg) c.3968T>G (p.Leu1323Arg) c.3563T>G (p.Leu1188Arg) c.2921T>G (p.Leu974Arg) c.431T>G (p.Leu144Arg) n.4346T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732179T= | CA1918849706 | C10orf105,CDH23 | c.3908T= (p.Leu1303=) c.3905T= (p.Leu1302=) c.3923T= (p.Leu1308=) c.-6+5549A= (n.-6+5549A=) n.600T= c.4103T= (p.Leu1368=) c.4037T= (p.Leu1346=) c.4097T= (p.Leu1366=) c.4043T= (p.Leu1348=) c.3968T= (p.Leu1323=) c.3563T= (p.Leu1188=) c.2921T= (p.Leu974=) c.431T= (p.Leu144=) n.4346T= | |
10 | g.71732180G>A | CA470283939 | C10orf105,CDH23 | c.3909G>A (p.Leu1303=) c.3906G>A (p.Leu1302=) c.3924G>A (p.Leu1308=) c.-6+5548C>T (n.-6+5548C>T) n.601G>A c.4104G>A (p.Leu1368=) c.4038G>A (p.Leu1346=) c.4098G>A (p.Leu1366=) c.4044G>A (p.Leu1348=) c.3969G>A (p.Leu1323=) c.3564G>A (p.Leu1188=) c.2922G>A (p.Leu974=) c.432G>A (p.Leu144=) n.4347G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71732180G>C | CA470283946 | C10orf105,CDH23 | c.3909G>C (p.Leu1303=) c.3906G>C (p.Leu1302=) c.3924G>C (p.Leu1308=) c.-6+5548C>G (n.-6+5548C>G) n.601G>C c.4104G>C (p.Leu1368=) c.4038G>C (p.Leu1346=) c.4098G>C (p.Leu1366=) c.4044G>C (p.Leu1348=) c.3969G>C (p.Leu1323=) c.3564G>C (p.Leu1188=) c.2922G>C (p.Leu974=) c.432G>C (p.Leu144=) n.4347G>C | |
10 | g.71732180G= | CA1918849707 | C10orf105,CDH23 | c.3909G= (p.Leu1303=) c.3906G= (p.Leu1302=) c.3924G= (p.Leu1308=) c.-6+5548C= (n.-6+5548C=) n.601G= c.4104G= (p.Leu1368=) c.4038G= (p.Leu1346=) c.4098G= (p.Leu1366=) c.4044G= (p.Leu1348=) c.3969G= (p.Leu1323=) c.3564G= (p.Leu1188=) c.2922G= (p.Leu974=) c.432G= (p.Leu144=) n.4347G= | |
10 | g.71732180G>T | CA470283950 | C10orf105,CDH23 | c.3909G>T (p.Leu1303=) c.3906G>T (p.Leu1302=) c.3924G>T (p.Leu1308=) c.-6+5548C>A (n.-6+5548C>A) n.601G>T c.4104G>T (p.Leu1368=) c.4038G>T (p.Leu1346=) c.4098G>T (p.Leu1366=) c.4044G>T (p.Leu1348=) c.3969G>T (p.Leu1323=) c.3564G>T (p.Leu1188=) c.2922G>T (p.Leu974=) c.432G>T (p.Leu144=) n.4347G>T | |
10 | g.71732181C>A | CA377156514 | C10orf105,CDH23 | c.3910C>A (p.Leu1304Ile) c.3907C>A (p.Leu1303Ile) c.3925C>A (p.Leu1309Ile) c.-6+5547G>T (n.-6+5547G>T) n.602C>A c.4105C>A (p.Leu1369Ile) c.4039C>A (p.Leu1347Ile) c.4099C>A (p.Leu1367Ile) c.4045C>A (p.Leu1349Ile) c.3970C>A (p.Leu1324Ile) c.3565C>A (p.Leu1189Ile) c.2923C>A (p.Leu975Ile) c.433C>A (p.Leu145Ile) n.4348C>A | dbSNP |
10 | g.71732181C= | CA1918849708 | C10orf105,CDH23 | c.3910C= (p.Leu1304=) c.3907C= (p.Leu1303=) c.3925C= (p.Leu1309=) c.-6+5547G= (n.-6+5547G=) n.602C= c.4105C= (p.Leu1369=) c.4039C= (p.Leu1347=) c.4099C= (p.Leu1367=) c.4045C= (p.Leu1349=) c.3970C= (p.Leu1324=) c.3565C= (p.Leu1189=) c.2923C= (p.Leu975=) c.433C= (p.Leu145=) n.4348C= | |
10 | g.71732181C>G | CA377156515 | C10orf105,CDH23 | c.3910C>G (p.Leu1304Val) c.3907C>G (p.Leu1303Val) c.3925C>G (p.Leu1309Val) c.-6+5547G>C (n.-6+5547G>C) n.602C>G c.4105C>G (p.Leu1369Val) c.4039C>G (p.Leu1347Val) c.4099C>G (p.Leu1367Val) c.4045C>G (p.Leu1349Val) c.3970C>G (p.Leu1324Val) c.3565C>G (p.Leu1189Val) c.2923C>G (p.Leu975Val) c.433C>G (p.Leu145Val) n.4348C>G | |
10 | g.71732181C>T | CA5544866 | C10orf105,CDH23 | c.3910C>T (p.Leu1304Phe) c.3907C>T (p.Leu1303Phe) c.3925C>T (p.Leu1309Phe) c.-6+5547G>A (n.-6+5547G>A) n.602C>T c.4105C>T (p.Leu1369Phe) c.4039C>T (p.Leu1347Phe) c.4099C>T (p.Leu1367Phe) c.4045C>T (p.Leu1349Phe) c.3970C>T (p.Leu1324Phe) c.3565C>T (p.Leu1189Phe) c.2923C>T (p.Leu975Phe) c.433C>T (p.Leu145Phe) n.4348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732182T>A | CA377156516 | C10orf105,CDH23 | c.3911T>A (p.Leu1304His) c.3908T>A (p.Leu1303His) c.3926T>A (p.Leu1309His) c.-6+5546A>T (n.-6+5546A>T) n.603T>A c.4106T>A (p.Leu1369His) c.4040T>A (p.Leu1347His) c.4100T>A (p.Leu1367His) c.4046T>A (p.Leu1349His) c.3971T>A (p.Leu1324His) c.3566T>A (p.Leu1189His) c.2924T>A (p.Leu975His) c.434T>A (p.Leu145His) n.4349T>A | |
10 | g.71732182T>C | CA377156517 | C10orf105,CDH23 | c.3911T>C (p.Leu1304Pro) c.3908T>C (p.Leu1303Pro) c.3926T>C (p.Leu1309Pro) c.-6+5546A>G (n.-6+5546A>G) n.603T>C c.4106T>C (p.Leu1369Pro) c.4040T>C (p.Leu1347Pro) c.4100T>C (p.Leu1367Pro) c.4046T>C (p.Leu1349Pro) c.3971T>C (p.Leu1324Pro) c.3566T>C (p.Leu1189Pro) c.2924T>C (p.Leu975Pro) c.434T>C (p.Leu145Pro) n.4349T>C | |
10 | g.71732182T>G | CA377156518 | C10orf105,CDH23 | c.3911T>G (p.Leu1304Arg) c.3908T>G (p.Leu1303Arg) c.3926T>G (p.Leu1309Arg) c.-6+5546A>C (n.-6+5546A>C) n.603T>G c.4106T>G (p.Leu1369Arg) c.4040T>G (p.Leu1347Arg) c.4100T>G (p.Leu1367Arg) c.4046T>G (p.Leu1349Arg) c.3971T>G (p.Leu1324Arg) c.3566T>G (p.Leu1189Arg) c.2924T>G (p.Leu975Arg) c.434T>G (p.Leu145Arg) n.4349T>G | |
10 | g.71732183C>A | CA470283957 | C10orf105,CDH23 | c.3912C>A (p.Leu1304=) c.3909C>A (p.Leu1303=) c.3927C>A (p.Leu1309=) c.-6+5545G>T (n.-6+5545G>T) n.604C>A c.4107C>A (p.Leu1369=) c.4041C>A (p.Leu1347=) c.4101C>A (p.Leu1367=) c.4047C>A (p.Leu1349=) c.3972C>A (p.Leu1324=) c.3567C>A (p.Leu1189=) c.2925C>A (p.Leu975=) c.435C>A (p.Leu145=) n.4350C>A | |
10 | g.71732183C= | CA1918849709 | C10orf105,CDH23 | c.3912C= (p.Leu1304=) c.3909C= (p.Leu1303=) c.3927C= (p.Leu1309=) c.-6+5545G= (n.-6+5545G=) n.604C= c.4107C= (p.Leu1369=) c.4041C= (p.Leu1347=) c.4101C= (p.Leu1367=) c.4047C= (p.Leu1349=) c.3972C= (p.Leu1324=) c.3567C= (p.Leu1189=) c.2925C= (p.Leu975=) c.435C= (p.Leu145=) n.4350C= | |
10 | g.71732183C>G | CA470283959 | C10orf105,CDH23 | c.3912C>G (p.Leu1304=) c.3909C>G (p.Leu1303=) c.3927C>G (p.Leu1309=) c.-6+5545G>C (n.-6+5545G>C) n.604C>G c.4107C>G (p.Leu1369=) c.4041C>G (p.Leu1347=) c.4101C>G (p.Leu1367=) c.4047C>G (p.Leu1349=) c.3972C>G (p.Leu1324=) c.3567C>G (p.Leu1189=) c.2925C>G (p.Leu975=) c.435C>G (p.Leu145=) n.4350C>G | |
10 | g.71732183C>T | CA470283963 | C10orf105,CDH23 | c.3912C>T (p.Leu1304=) c.3909C>T (p.Leu1303=) c.3927C>T (p.Leu1309=) c.-6+5545G>A (n.-6+5545G>A) n.604C>T c.4107C>T (p.Leu1369=) c.4041C>T (p.Leu1347=) c.4101C>T (p.Leu1367=) c.4047C>T (p.Leu1349=) c.3972C>T (p.Leu1324=) c.3567C>T (p.Leu1189=) c.2925C>T (p.Leu975=) c.435C>T (p.Leu145=) n.4350C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71732184A= | CA1918849710 | C10orf105,CDH23 | c.3913A= (p.Asn1305=) c.3910A= (p.Asn1304=) c.3928A= (p.Asn1310=) c.-6+5544T= (n.-6+5544T=) n.605A= c.4108A= (p.Asn1370=) c.4042A= (p.Asn1348=) c.4102A= (p.Asn1368=) c.4048A= (p.Asn1350=) c.3973A= (p.Asn1325=) c.3568A= (p.Asn1190=) c.2926A= (p.Asn976=) c.436A= (p.Asn146=) n.4351A= | |
10 | g.71732184A>C | CA377156519 | C10orf105,CDH23 | c.3913A>C (p.Asn1305His) c.3910A>C (p.Asn1304His) c.3928A>C (p.Asn1310His) c.-6+5544T>G (n.-6+5544T>G) n.605A>C c.4108A>C (p.Asn1370His) c.4042A>C (p.Asn1348His) c.4102A>C (p.Asn1368His) c.4048A>C (p.Asn1350His) c.3973A>C (p.Asn1325His) c.3568A>C (p.Asn1190His) c.2926A>C (p.Asn976His) c.436A>C (p.Asn146His) n.4351A>C | |
10 | g.71732184A>G | CA5544867 | C10orf105,CDH23 | c.3913A>G (p.Asn1305Asp) c.3910A>G (p.Asn1304Asp) c.3928A>G (p.Asn1310Asp) c.-6+5544T>C (n.-6+5544T>C) n.605A>G c.4108A>G (p.Asn1370Asp) c.4042A>G (p.Asn1348Asp) c.4102A>G (p.Asn1368Asp) c.4048A>G (p.Asn1350Asp) c.3973A>G (p.Asn1325Asp) c.3568A>G (p.Asn1190Asp) c.2926A>G (p.Asn976Asp) c.436A>G (p.Asn146Asp) n.4351A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732184A>T | CA377156520 | C10orf105,CDH23 | c.3913A>T (p.Asn1305Tyr) c.3910A>T (p.Asn1304Tyr) c.3928A>T (p.Asn1310Tyr) c.-6+5544T>A (n.-6+5544T>A) n.605A>T c.4108A>T (p.Asn1370Tyr) c.4042A>T (p.Asn1348Tyr) c.4102A>T (p.Asn1368Tyr) c.4048A>T (p.Asn1350Tyr) c.3973A>T (p.Asn1325Tyr) c.3568A>T (p.Asn1190Tyr) c.2926A>T (p.Asn976Tyr) c.436A>T (p.Asn146Tyr) n.4351A>T | |
10 | g.71732185A>C | CA377156521 | C10orf105,CDH23 | c.3914A>C (p.Asn1305Thr) c.3911A>C (p.Asn1304Thr) c.3929A>C (p.Asn1310Thr) c.-6+5543T>G (n.-6+5543T>G) n.606A>C c.4109A>C (p.Asn1370Thr) c.4043A>C (p.Asn1348Thr) c.4103A>C (p.Asn1368Thr) c.4049A>C (p.Asn1350Thr) c.3974A>C (p.Asn1325Thr) c.3569A>C (p.Asn1190Thr) c.2927A>C (p.Asn976Thr) c.437A>C (p.Asn146Thr) n.4352A>C | dbSNP |
10 | g.71732185A>G | CA377156522 | C10orf105,CDH23 | c.3914A>G (p.Asn1305Ser) c.3911A>G (p.Asn1304Ser) c.3929A>G (p.Asn1310Ser) c.-6+5543T>C (n.-6+5543T>C) n.606A>G c.4109A>G (p.Asn1370Ser) c.4043A>G (p.Asn1348Ser) c.4103A>G (p.Asn1368Ser) c.4049A>G (p.Asn1350Ser) c.3974A>G (p.Asn1325Ser) c.3569A>G (p.Asn1190Ser) c.2927A>G (p.Asn976Ser) c.437A>G (p.Asn146Ser) n.4352A>G | |
10 | g.71732185A>T | CA377156523 | C10orf105,CDH23 | c.3914A>T (p.Asn1305Ile) c.3911A>T (p.Asn1304Ile) c.3929A>T (p.Asn1310Ile) c.-6+5543T>A (n.-6+5543T>A) n.606A>T c.4109A>T (p.Asn1370Ile) c.4043A>T (p.Asn1348Ile) c.4103A>T (p.Asn1368Ile) c.4049A>T (p.Asn1350Ile) c.3974A>T (p.Asn1325Ile) c.3569A>T (p.Asn1190Ile) c.2927A>T (p.Asn976Ile) c.437A>T (p.Asn146Ile) n.4352A>T | dbSNP |
10 | g.71732186C>A | CA377156524 | C10orf105,CDH23 | c.3915C>A (p.Asn1305Lys) c.3912C>A (p.Asn1304Lys) c.3930C>A (p.Asn1310Lys) c.-6+5542G>T (n.-6+5542G>T) n.607C>A c.4110C>A (p.Asn1370Lys) c.4044C>A (p.Asn1348Lys) c.4104C>A (p.Asn1368Lys) c.4050C>A (p.Asn1350Lys) c.3975C>A (p.Asn1325Lys) c.3570C>A (p.Asn1190Lys) c.2928C>A (p.Asn976Lys) c.438C>A (p.Asn146Lys) n.4353C>A | |
10 | g.71732186C= | CA1918849711 | C10orf105,CDH23 | c.3915C= (p.Asn1305=) c.3912C= (p.Asn1304=) c.3930C= (p.Asn1310=) c.-6+5542G= (n.-6+5542G=) n.607C= c.4110C= (p.Asn1370=) c.4044C= (p.Asn1348=) c.4104C= (p.Asn1368=) c.4050C= (p.Asn1350=) c.3975C= (p.Asn1325=) c.3570C= (p.Asn1190=) c.2928C= (p.Asn976=) c.438C= (p.Asn146=) n.4353C= | |
10 | g.71732186C>G | CA377156525 | C10orf105,CDH23 | c.3915C>G (p.Asn1305Lys) c.3912C>G (p.Asn1304Lys) c.3930C>G (p.Asn1310Lys) c.-6+5542G>C (n.-6+5542G>C) n.607C>G c.4110C>G (p.Asn1370Lys) c.4044C>G (p.Asn1348Lys) c.4104C>G (p.Asn1368Lys) c.4050C>G (p.Asn1350Lys) c.3975C>G (p.Asn1325Lys) c.3570C>G (p.Asn1190Lys) c.2928C>G (p.Asn976Lys) c.438C>G (p.Asn146Lys) n.4353C>G | dbSNP |
10 | g.71732186C>T | CA5544868 | C10orf105,CDH23 | c.3915C>T (p.Asn1305=) c.3912C>T (p.Asn1304=) c.3930C>T (p.Asn1310=) c.-6+5542G>A (n.-6+5542G>A) n.607C>T c.4110C>T (p.Asn1370=) c.4044C>T (p.Asn1348=) c.4104C>T (p.Asn1368=) c.4050C>T (p.Asn1350=) c.3975C>T (p.Asn1325=) c.3570C>T (p.Asn1190=) c.2928C>T (p.Asn976=) c.438C>T (p.Asn146=) n.4353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71732187G>A | CA377156527 | C10orf105,CDH23 | c.3916G>A (p.Glu1306Lys) c.3913G>A (p.Glu1305Lys) c.3931G>A (p.Glu1311Lys) c.-6+5541C>T (n.-6+5541C>T) n.608G>A c.4111G>A (p.Glu1371Lys) c.4045G>A (p.Glu1349Lys) c.4105G>A (p.Glu1369Lys) c.4051G>A (p.Glu1351Lys) c.3976G>A (p.Glu1326Lys) c.3571G>A (p.Glu1191Lys) c.2929G>A (p.Glu977Lys) c.439G>A (p.Glu147Lys) n.4354G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.71732187G>C | CA209480545 | C10orf105,CDH23 | c.3916G>C (p.Glu1306Gln) c.3913G>C (p.Glu1305Gln) c.3931G>C (p.Glu1311Gln) c.-6+5541C>G (n.-6+5541C>G) n.608G>C c.4111G>C (p.Glu1371Gln) c.4045G>C (p.Glu1349Gln) c.4105G>C (p.Glu1369Gln) c.4051G>C (p.Glu1351Gln) c.3976G>C (p.Glu1326Gln) c.3571G>C (p.Glu1191Gln) c.2929G>C (p.Glu977Gln) c.439G>C (p.Glu147Gln) n.4354G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732187G= | CA1918849712 | C10orf105,CDH23 | c.3916G= (p.Glu1306=) c.3913G= (p.Glu1305=) c.3931G= (p.Glu1311=) c.-6+5541C= (n.-6+5541C=) n.608G= c.4111G= (p.Glu1371=) c.4045G= (p.Glu1349=) c.4105G= (p.Glu1369=) c.4051G= (p.Glu1351=) c.3976G= (p.Glu1326=) c.3571G= (p.Glu1191=) c.2929G= (p.Glu977=) c.439G= (p.Glu147=) n.4354G= | |
10 | g.71732187G>T | CA377156526 | C10orf105,CDH23 | c.3916G>T (p.Glu1306Ter) c.3913G>T (p.Glu1305Ter) c.3931G>T (p.Glu1311Ter) c.-6+5541C>A (n.-6+5541C>A) n.608G>T c.4111G>T (p.Glu1371Ter) c.4045G>T (p.Glu1349Ter) c.4105G>T (p.Glu1369Ter) c.4051G>T (p.Glu1351Ter) c.3976G>T (p.Glu1326Ter) c.3571G>T (p.Glu1191Ter) c.2929G>T (p.Glu977Ter) c.439G>T (p.Glu147Ter) n.4354G>T | |
10 | g.71732188A>C | CA377156528 | C10orf105,CDH23 | c.3917A>C (p.Glu1306Ala) c.3914A>C (p.Glu1305Ala) c.3932A>C (p.Glu1311Ala) c.-6+5540T>G (n.-6+5540T>G) n.609A>C c.4112A>C (p.Glu1371Ala) c.4046A>C (p.Glu1349Ala) c.4106A>C (p.Glu1369Ala) c.4052A>C (p.Glu1351Ala) c.3977A>C (p.Glu1326Ala) c.3572A>C (p.Glu1191Ala) c.2930A>C (p.Glu977Ala) c.440A>C (p.Glu147Ala) n.4355A>C | |
10 | g.71732188A>G | CA377156529 | C10orf105,CDH23 | c.3917A>G (p.Glu1306Gly) c.3914A>G (p.Glu1305Gly) c.3932A>G (p.Glu1311Gly) c.-6+5540T>C (n.-6+5540T>C) n.609A>G c.4112A>G (p.Glu1371Gly) c.4046A>G (p.Glu1349Gly) c.4106A>G (p.Glu1369Gly) c.4052A>G (p.Glu1351Gly) c.3977A>G (p.Glu1326Gly) c.3572A>G (p.Glu1191Gly) c.2930A>G (p.Glu977Gly) c.440A>G (p.Glu147Gly) n.4355A>G | dbSNP gnomAD v4 |
10 | g.71732188A>T | CA377156530 | C10orf105,CDH23 | c.3917A>T (p.Glu1306Val) c.3914A>T (p.Glu1305Val) c.3932A>T (p.Glu1311Val) c.-6+5540T>A (n.-6+5540T>A) n.609A>T c.4112A>T (p.Glu1371Val) c.4046A>T (p.Glu1349Val) c.4106A>T (p.Glu1369Val) c.4052A>T (p.Glu1351Val) c.3977A>T (p.Glu1326Val) c.3572A>T (p.Glu1191Val) c.2930A>T (p.Glu977Val) c.440A>T (p.Glu147Val) n.4355A>T | dbSNP |
10 | g.71732189G>A | CA470283976 | C10orf105,CDH23 | c.3918G>A (p.Glu1306=) c.3915G>A (p.Glu1305=) c.3933G>A (p.Glu1311=) c.-6+5539C>T (n.-6+5539C>T) n.610G>A c.4113G>A (p.Glu1371=) c.4047G>A (p.Glu1349=) c.4107G>A (p.Glu1369=) c.4053G>A (p.Glu1351=) c.3978G>A (p.Glu1326=) c.3573G>A (p.Glu1191=) c.2931G>A (p.Glu977=) c.441G>A (p.Glu147=) n.4356G>A | COSMIC |
10 | g.71732189G>C | CA377156531 | C10orf105,CDH23 | c.3918G>C (p.Glu1306Asp) c.3915G>C (p.Glu1305Asp) c.3933G>C (p.Glu1311Asp) c.-6+5539C>G (n.-6+5539C>G) n.610G>C c.4113G>C (p.Glu1371Asp) c.4047G>C (p.Glu1349Asp) c.4107G>C (p.Glu1369Asp) c.4053G>C (p.Glu1351Asp) c.3978G>C (p.Glu1326Asp) c.3573G>C (p.Glu1191Asp) c.2931G>C (p.Glu977Asp) c.441G>C (p.Glu147Asp) n.4356G>C | |
10 | g.71732189G>T | CA377156532 | C10orf105,CDH23 | c.3918G>T (p.Glu1306Asp) c.3915G>T (p.Glu1305Asp) c.3933G>T (p.Glu1311Asp) c.-6+5539C>A (n.-6+5539C>A) n.610G>T c.4113G>T (p.Glu1371Asp) c.4047G>T (p.Glu1349Asp) c.4107G>T (p.Glu1369Asp) c.4053G>T (p.Glu1351Asp) c.3978G>T (p.Glu1326Asp) c.3573G>T (p.Glu1191Asp) c.2931G>T (p.Glu977Asp) c.441G>T (p.Glu147Asp) n.4356G>T | |
10 | g.71732190C>A | CA377156533 | C10orf105,CDH23 | c.3919C>A (p.Leu1307Met) c.3916C>A (p.Leu1306Met) c.3934C>A (p.Leu1312Met) c.-6+5538G>T (n.-6+5538G>T) n.611C>A c.4114C>A (p.Leu1372Met) c.4048C>A (p.Leu1350Met) c.4108C>A (p.Leu1370Met) c.4054C>A (p.Leu1352Met) c.3979C>A (p.Leu1327Met) c.3574C>A (p.Leu1192Met) c.2932C>A (p.Leu978Met) c.442C>A (p.Leu148Met) n.4357C>A | gnomAD v4 |
10 | g.71732190C= | CA1918849713 | C10orf105,CDH23 | c.3919C= (p.Leu1307=) c.3916C= (p.Leu1306=) c.3934C= (p.Leu1312=) c.-6+5538G= (n.-6+5538G=) n.611C= c.4114C= (p.Leu1372=) c.4048C= (p.Leu1350=) c.4108C= (p.Leu1370=) c.4054C= (p.Leu1352=) c.3979C= (p.Leu1327=) c.3574C= (p.Leu1192=) c.2932C= (p.Leu978=) c.442C= (p.Leu148=) n.4357C= | |
10 | g.71732190C>G | CA377156534 | C10orf105,CDH23 | c.3919C>G (p.Leu1307Val) c.3916C>G (p.Leu1306Val) c.3934C>G (p.Leu1312Val) c.-6+5538G>C (n.-6+5538G>C) n.611C>G c.4114C>G (p.Leu1372Val) c.4048C>G (p.Leu1350Val) c.4108C>G (p.Leu1370Val) c.4054C>G (p.Leu1352Val) c.3979C>G (p.Leu1327Val) c.3574C>G (p.Leu1192Val) c.2932C>G (p.Leu978Val) c.442C>G (p.Leu148Val) n.4357C>G | dbSNP gnomAD v4 |
10 | g.71732190C>T | CA470283983 | C10orf105,CDH23 | c.3919C>T (p.Leu1307=) c.3916C>T (p.Leu1306=) c.3934C>T (p.Leu1312=) c.-6+5538G>A (n.-6+5538G>A) n.611C>T c.4114C>T (p.Leu1372=) c.4048C>T (p.Leu1350=) c.4108C>T (p.Leu1370=) c.4054C>T (p.Leu1352=) c.3979C>T (p.Leu1327=) c.3574C>T (p.Leu1192=) c.2932C>T (p.Leu978=) c.442C>T (p.Leu148=) n.4357C>T | dbSNP |
10 | g.71732190_71732191delinsGG | CA2695212105 | C10orf105,CDH23 | c.3919_3920delinsGG (p.Leu1307Gly) c.3916_3917delinsGG (p.Leu1306Gly) c.3934_3935delinsGG (p.Leu1312Gly) c.-6+5537_-6+5538delinsCC (n.-6+5537_-6+5538delinsCC) n.611_612delinsGG c.4114_4115delinsGG (p.Leu1372Gly) c.4048_4049delinsGG (p.Leu1350Gly) c.4108_4109delinsGG (p.Leu1370Gly) c.4054_4055delinsGG (p.Leu1352Gly) c.3979_3980delinsGG (p.Leu1327Gly) c.3574_3575delinsGG (p.Leu1192Gly) c.2932_2933delinsGG (p.Leu978Gly) c.442_443delinsGG (p.Leu148Gly) n.4357_4358delinsGG | |
10 | g.71732191T>A | CA377156535 | C10orf105,CDH23 | c.3920T>A (p.Leu1307Gln) c.3917T>A (p.Leu1306Gln) c.3935T>A (p.Leu1312Gln) c.-6+5537A>T (n.-6+5537A>T) n.612T>A c.4115T>A (p.Leu1372Gln) c.4049T>A (p.Leu1350Gln) c.4109T>A (p.Leu1370Gln) c.4055T>A (p.Leu1352Gln) c.3980T>A (p.Leu1327Gln) c.3575T>A (p.Leu1192Gln) c.2933T>A (p.Leu978Gln) c.443T>A (p.Leu148Gln) n.4358T>A | dbSNP |
10 | g.71732191T>C | CA377156536 | C10orf105,CDH23 | c.3920T>C (p.Leu1307Pro) c.3917T>C (p.Leu1306Pro) c.3935T>C (p.Leu1312Pro) c.-6+5537A>G (n.-6+5537A>G) n.612T>C c.4115T>C (p.Leu1372Pro) c.4049T>C (p.Leu1350Pro) c.4109T>C (p.Leu1370Pro) c.4055T>C (p.Leu1352Pro) c.3980T>C (p.Leu1327Pro) c.3575T>C (p.Leu1192Pro) c.2933T>C (p.Leu978Pro) c.443T>C (p.Leu148Pro) n.4358T>C | gnomAD v4 |
10 | g.71732191T>G | CA377156537 | C10orf105,CDH23 | c.3920T>G (p.Leu1307Arg) c.3917T>G (p.Leu1306Arg) c.3935T>G (p.Leu1312Arg) c.-6+5537A>C (n.-6+5537A>C) n.612T>G c.4115T>G (p.Leu1372Arg) c.4049T>G (p.Leu1350Arg) c.4109T>G (p.Leu1370Arg) c.4055T>G (p.Leu1352Arg) c.3980T>G (p.Leu1327Arg) c.3575T>G (p.Leu1192Arg) c.2933T>G (p.Leu978Arg) c.443T>G (p.Leu148Arg) n.4358T>G | dbSNP gnomAD v4 |
10 | g.71732191T= | CA1918849714 | C10orf105,CDH23 | c.3920T= (p.Leu1307=) c.3917T= (p.Leu1306=) c.3935T= (p.Leu1312=) c.-6+5537A= (n.-6+5537A=) n.612T= c.4115T= (p.Leu1372=) c.4049T= (p.Leu1350=) c.4109T= (p.Leu1370=) c.4055T= (p.Leu1352=) c.3980T= (p.Leu1327=) c.3575T= (p.Leu1192=) c.2933T= (p.Leu978=) c.443T= (p.Leu148=) n.4358T= | |
10 | g.71732192G>A | CA209480546 | C10orf105,CDH23 | c.3921G>A (p.Leu1307=) c.3918G>A (p.Leu1306=) c.3936G>A (p.Leu1312=) c.-6+5536C>T (n.-6+5536C>T) n.613G>A c.4116G>A (p.Leu1372=) c.4050G>A (p.Leu1350=) c.4110G>A (p.Leu1370=) c.4056G>A (p.Leu1352=) c.3981G>A (p.Leu1327=) c.3576G>A (p.Leu1192=) c.2934G>A (p.Leu978=) c.444G>A (p.Leu148=) n.4359G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732192G>C | CA470283986 | C10orf105,CDH23 | c.3921G>C (p.Leu1307=) c.3918G>C (p.Leu1306=) c.3936G>C (p.Leu1312=) c.-6+5536C>G (n.-6+5536C>G) n.613G>C c.4116G>C (p.Leu1372=) c.4050G>C (p.Leu1350=) c.4110G>C (p.Leu1370=) c.4056G>C (p.Leu1352=) c.3981G>C (p.Leu1327=) c.3576G>C (p.Leu1192=) c.2934G>C (p.Leu978=) c.444G>C (p.Leu148=) n.4359G>C | dbSNP |
10 | g.71732192G= | CA1918849715 | C10orf105,CDH23 | c.3921G= (p.Leu1307=) c.3918G= (p.Leu1306=) c.3936G= (p.Leu1312=) c.-6+5536C= (n.-6+5536C=) n.613G= c.4116G= (p.Leu1372=) c.4050G= (p.Leu1350=) c.4110G= (p.Leu1370=) c.4056G= (p.Leu1352=) c.3981G= (p.Leu1327=) c.3576G= (p.Leu1192=) c.2934G= (p.Leu978=) c.444G= (p.Leu148=) n.4359G= | |
10 | g.71732192G>T | CA470283987 | C10orf105,CDH23 | c.3921G>T (p.Leu1307=) c.3918G>T (p.Leu1306=) c.3936G>T (p.Leu1312=) c.-6+5536C>A (n.-6+5536C>A) n.613G>T c.4116G>T (p.Leu1372=) c.4050G>T (p.Leu1350=) c.4110G>T (p.Leu1370=) c.4056G>T (p.Leu1352=) c.3981G>T (p.Leu1327=) c.3576G>T (p.Leu1192=) c.2934G>T (p.Leu978=) c.444G>T (p.Leu148=) n.4359G>T | |
10 | g.71732193G>A | CA377156540 | C10orf105,CDH23 | c.3922G>A (p.Asp1308Asn) c.3919G>A (p.Asp1307Asn) c.3937G>A (p.Asp1313Asn) c.-6+5535C>T (n.-6+5535C>T) n.614G>A c.4117G>A (p.Asp1373Asn) c.4051G>A (p.Asp1351Asn) c.4111G>A (p.Asp1371Asn) c.4057G>A (p.Asp1353Asn) c.3982G>A (p.Asp1328Asn) c.3577G>A (p.Asp1193Asn) c.2935G>A (p.Asp979Asn) c.445G>A (p.Asp149Asn) n.4360G>A | |
10 | g.71732193G>C | CA377156538 | C10orf105,CDH23 | c.3922G>C (p.Asp1308His) c.3919G>C (p.Asp1307His) c.3937G>C (p.Asp1313His) c.-6+5535C>G (n.-6+5535C>G) n.614G>C c.4117G>C (p.Asp1373His) c.4051G>C (p.Asp1351His) c.4111G>C (p.Asp1371His) c.4057G>C (p.Asp1353His) c.3982G>C (p.Asp1328His) c.3577G>C (p.Asp1193His) c.2935G>C (p.Asp979His) c.445G>C (p.Asp149His) n.4360G>C | |
10 | g.71732193G>T | CA377156539 | C10orf105,CDH23 | c.3922G>T (p.Asp1308Tyr) c.3919G>T (p.Asp1307Tyr) c.3937G>T (p.Asp1313Tyr) c.-6+5535C>A (n.-6+5535C>A) n.614G>T c.4117G>T (p.Asp1373Tyr) c.4051G>T (p.Asp1351Tyr) c.4111G>T (p.Asp1371Tyr) c.4057G>T (p.Asp1353Tyr) c.3982G>T (p.Asp1328Tyr) c.3577G>T (p.Asp1193Tyr) c.2935G>T (p.Asp979Tyr) c.445G>T (p.Asp149Tyr) n.4360G>T | |
10 | g.71732194A>C | CA377156541 | C10orf105,CDH23 | c.3923A>C (p.Asp1308Ala) c.3920A>C (p.Asp1307Ala) c.3938A>C (p.Asp1313Ala) c.-6+5534T>G (n.-6+5534T>G) n.615A>C c.4118A>C (p.Asp1373Ala) c.4052A>C (p.Asp1351Ala) c.4112A>C (p.Asp1371Ala) c.4058A>C (p.Asp1353Ala) c.3983A>C (p.Asp1328Ala) c.3578A>C (p.Asp1193Ala) c.2936A>C (p.Asp979Ala) c.446A>C (p.Asp149Ala) n.4361A>C | dbSNP |
10 | g.71732194A>G | CA377156542 | C10orf105,CDH23 | c.3923A>G (p.Asp1308Gly) c.3920A>G (p.Asp1307Gly) c.3938A>G (p.Asp1313Gly) c.-6+5534T>C (n.-6+5534T>C) n.615A>G c.4118A>G (p.Asp1373Gly) c.4052A>G (p.Asp1351Gly) c.4112A>G (p.Asp1371Gly) c.4058A>G (p.Asp1353Gly) c.3983A>G (p.Asp1328Gly) c.3578A>G (p.Asp1193Gly) c.2936A>G (p.Asp979Gly) c.446A>G (p.Asp149Gly) n.4361A>G | |
10 | g.71732194A>T | CA377156543 | C10orf105,CDH23 | c.3923A>T (p.Asp1308Val) c.3920A>T (p.Asp1307Val) c.3938A>T (p.Asp1313Val) c.-6+5534T>A (n.-6+5534T>A) n.615A>T c.4118A>T (p.Asp1373Val) c.4052A>T (p.Asp1351Val) c.4112A>T (p.Asp1371Val) c.4058A>T (p.Asp1353Val) c.3983A>T (p.Asp1328Val) c.3578A>T (p.Asp1193Val) c.2936A>T (p.Asp979Val) c.446A>T (p.Asp149Val) n.4361A>T | |
10 | g.71732195C>A | CA377156544 | C10orf105,CDH23 | c.3924C>A (p.Asp1308Glu) c.3921C>A (p.Asp1307Glu) c.3939C>A (p.Asp1313Glu) c.-6+5533G>T (n.-6+5533G>T) n.616C>A c.4119C>A (p.Asp1373Glu) c.4053C>A (p.Asp1351Glu) c.4113C>A (p.Asp1371Glu) c.4059C>A (p.Asp1353Glu) c.3984C>A (p.Asp1328Glu) c.3579C>A (p.Asp1193Glu) c.2937C>A (p.Asp979Glu) c.447C>A (p.Asp149Glu) n.4362C>A | dbSNP |
10 | g.71732195C= | CA1918849716 | C10orf105,CDH23 | c.3924C= (p.Asp1308=) c.3921C= (p.Asp1307=) c.3939C= (p.Asp1313=) c.-6+5533G= (n.-6+5533G=) n.616C= c.4119C= (p.Asp1373=) c.4053C= (p.Asp1351=) c.4113C= (p.Asp1371=) c.4059C= (p.Asp1353=) c.3984C= (p.Asp1328=) c.3579C= (p.Asp1193=) c.2937C= (p.Asp979=) c.447C= (p.Asp149=) n.4362C= | |
10 | g.71732195C>G | CA377156545 | C10orf105,CDH23 | c.3924C>G (p.Asp1308Glu) c.3921C>G (p.Asp1307Glu) c.3939C>G (p.Asp1313Glu) c.-6+5533G>C (n.-6+5533G>C) n.616C>G c.4119C>G (p.Asp1373Glu) c.4053C>G (p.Asp1351Glu) c.4113C>G (p.Asp1371Glu) c.4059C>G (p.Asp1353Glu) c.3984C>G (p.Asp1328Glu) c.3579C>G (p.Asp1193Glu) c.2937C>G (p.Asp979Glu) c.447C>G (p.Asp149Glu) n.4362C>G | dbSNP gnomAD v4 |
10 | g.71732195C>T | CA5544869 | C10orf105,CDH23 | c.3924C>T (p.Asp1308=) c.3921C>T (p.Asp1307=) c.3939C>T (p.Asp1313=) c.-6+5533G>A (n.-6+5533G>A) n.616C>T c.4119C>T (p.Asp1373=) c.4053C>T (p.Asp1351=) c.4113C>T (p.Asp1371=) c.4059C>T (p.Asp1353=) c.3984C>T (p.Asp1328=) c.3579C>T (p.Asp1193=) c.2937C>T (p.Asp979=) c.447C>T (p.Asp149=) n.4362C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732198_71732199insAACGCCATCGAG | CA2741105563 | C10orf105,CDH23 | c.3927_3928insAACGCCATCGAG (p.Glu1309_Ala1310insAsnAlaIleGlu) c.3924_3925insAACGCCATCGAG (p.Glu1308_Ala1309insAsnAlaIleGlu) c.3942_3943insAACGCCATCGAG (p.Glu1314_Ala1315insAsnAlaIleGlu) c.-6+5533_-6+5534insATGGCGTTCTCG (n.-6+5533_-6+5534insATGGCGTTCTCG) n.619_620insAACGCCATCGAG c.4122_4123insAACGCCATCGAG (p.Glu1374_Ala1375insAsnAlaIleGlu) c.4056_4057insAACGCCATCGAG (p.Glu1352_Ala1353insAsnAlaIleGlu) c.4116_4117insAACGCCATCGAG (p.Glu1372_Ala1373insAsnAlaIleGlu) c.4062_4063insAACGCCATCGAG (p.Glu1354_Ala1355insAsnAlaIleGlu) c.3987_3988insAACGCCATCGAG (p.Glu1329_Ala1330insAsnAlaIleGlu) c.3582_3583insAACGCCATCGAG (p.Glu1194_Ala1195insAsnAlaIleGlu) c.2940_2941insAACGCCATCGAG (p.Glu980_Ala981insAsnAlaIleGlu) c.450_451insAACGCCATCGAG (p.Glu150_Ala151insAsnAlaIleGlu) n.4365_4366insAACGCCATCGAG | |
10 | g.71732196G>A | CA137402 | C10orf105,CDH23 | c.3925G>A (p.Glu1309Lys) c.3922G>A (p.Glu1308Lys) c.3940G>A (p.Glu1314Lys) c.-6+5532C>T (n.-6+5532C>T) n.617G>A c.4120G>A (p.Glu1374Lys) c.4054G>A (p.Glu1352Lys) c.4114G>A (p.Glu1372Lys) c.4060G>A (p.Glu1354Lys) c.3985G>A (p.Glu1329Lys) c.3580G>A (p.Glu1194Lys) c.2938G>A (p.Glu980Lys) c.448G>A (p.Glu150Lys) n.4363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.71732196G>C | CA377156546 | C10orf105,CDH23 | c.3925G>C (p.Glu1309Gln) c.3922G>C (p.Glu1308Gln) c.3940G>C (p.Glu1314Gln) c.-6+5532C>G (n.-6+5532C>G) n.617G>C c.4120G>C (p.Glu1374Gln) c.4054G>C (p.Glu1352Gln) c.4114G>C (p.Glu1372Gln) c.4060G>C (p.Glu1354Gln) c.3985G>C (p.Glu1329Gln) c.3580G>C (p.Glu1194Gln) c.2938G>C (p.Glu980Gln) c.448G>C (p.Glu150Gln) n.4363G>C | dbSNP gnomAD v4 |
10 | g.71732196G= | CA1918849717 | C10orf105,CDH23 | c.3925G= (p.Glu1309=) c.3922G= (p.Glu1308=) c.3940G= (p.Glu1314=) c.-6+5532C= (n.-6+5532C=) n.617G= c.4120G= (p.Glu1374=) c.4054G= (p.Glu1352=) c.4114G= (p.Glu1372=) c.4060G= (p.Glu1354=) c.3985G= (p.Glu1329=) c.3580G= (p.Glu1194=) c.2938G= (p.Glu980=) c.448G= (p.Glu150=) n.4363G= | |
10 | g.71732196G>T | CA377156547 | C10orf105,CDH23 | c.3925G>T (p.Glu1309Ter) c.3922G>T (p.Glu1308Ter) c.3940G>T (p.Glu1314Ter) c.-6+5532C>A (n.-6+5532C>A) n.617G>T c.4120G>T (p.Glu1374Ter) c.4054G>T (p.Glu1352Ter) c.4114G>T (p.Glu1372Ter) c.4060G>T (p.Glu1354Ter) c.3985G>T (p.Glu1329Ter) c.3580G>T (p.Glu1194Ter) c.2938G>T (p.Glu980Ter) c.448G>T (p.Glu150Ter) n.4363G>T | |
10 | g.71732197A>C | CA377156548 | C10orf105,CDH23 | c.3926A>C (p.Glu1309Ala) c.3923A>C (p.Glu1308Ala) c.3941A>C (p.Glu1314Ala) c.-6+5531T>G (n.-6+5531T>G) n.618A>C c.4121A>C (p.Glu1374Ala) c.4055A>C (p.Glu1352Ala) c.4115A>C (p.Glu1372Ala) c.4061A>C (p.Glu1354Ala) c.3986A>C (p.Glu1329Ala) c.3581A>C (p.Glu1194Ala) c.2939A>C (p.Glu980Ala) c.449A>C (p.Glu150Ala) n.4364A>C | |
10 | g.71732197A>G | CA377156549 | C10orf105,CDH23 | c.3926A>G (p.Glu1309Gly) c.3923A>G (p.Glu1308Gly) c.3941A>G (p.Glu1314Gly) c.-6+5531T>C (n.-6+5531T>C) n.618A>G c.4121A>G (p.Glu1374Gly) c.4055A>G (p.Glu1352Gly) c.4115A>G (p.Glu1372Gly) c.4061A>G (p.Glu1354Gly) c.3986A>G (p.Glu1329Gly) c.3581A>G (p.Glu1194Gly) c.2939A>G (p.Glu980Gly) c.449A>G (p.Glu150Gly) n.4364A>G | |
10 | g.71732197A>T | CA377156550 | C10orf105,CDH23 | c.3926A>T (p.Glu1309Val) c.3923A>T (p.Glu1308Val) c.3941A>T (p.Glu1314Val) c.-6+5531T>A (n.-6+5531T>A) n.618A>T c.4121A>T (p.Glu1374Val) c.4055A>T (p.Glu1352Val) c.4115A>T (p.Glu1372Val) c.4061A>T (p.Glu1354Val) c.3986A>T (p.Glu1329Val) c.3581A>T (p.Glu1194Val) c.2939A>T (p.Glu980Val) c.449A>T (p.Glu150Val) n.4364A>T | |
10 | g.71732198G>A | CA5544870 | C10orf105,CDH23 | c.3927G>A (p.Glu1309=) c.3924G>A (p.Glu1308=) c.3942G>A (p.Glu1314=) c.-6+5530C>T (n.-6+5530C>T) n.619G>A c.4122G>A (p.Glu1374=) c.4056G>A (p.Glu1352=) c.4116G>A (p.Glu1372=) c.4062G>A (p.Glu1354=) c.3987G>A (p.Glu1329=) c.3582G>A (p.Glu1194=) c.2940G>A (p.Glu980=) c.450G>A (p.Glu150=) n.4365G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732198G>C | CA377156552 | C10orf105,CDH23 | c.3927G>C (p.Glu1309Asp) c.3924G>C (p.Glu1308Asp) c.3942G>C (p.Glu1314Asp) c.-6+5530C>G (n.-6+5530C>G) n.619G>C c.4122G>C (p.Glu1374Asp) c.4056G>C (p.Glu1352Asp) c.4116G>C (p.Glu1372Asp) c.4062G>C (p.Glu1354Asp) c.3987G>C (p.Glu1329Asp) c.3582G>C (p.Glu1194Asp) c.2940G>C (p.Glu980Asp) c.450G>C (p.Glu150Asp) n.4365G>C | |
10 | g.71732198G= | CA1918849718 | C10orf105,CDH23 | c.3927G= (p.Glu1309=) c.3924G= (p.Glu1308=) c.3942G= (p.Glu1314=) c.-6+5530C= (n.-6+5530C=) n.619G= c.4122G= (p.Glu1374=) c.4056G= (p.Glu1352=) c.4116G= (p.Glu1372=) c.4062G= (p.Glu1354=) c.3987G= (p.Glu1329=) c.3582G= (p.Glu1194=) c.2940G= (p.Glu980=) c.450G= (p.Glu150=) n.4365G= | |
10 | g.71732198G>T | CA377156551 | C10orf105,CDH23 | c.3927G>T (p.Glu1309Asp) c.3924G>T (p.Glu1308Asp) c.3942G>T (p.Glu1314Asp) c.-6+5530C>A (n.-6+5530C>A) n.619G>T c.4122G>T (p.Glu1374Asp) c.4056G>T (p.Glu1352Asp) c.4116G>T (p.Glu1372Asp) c.4062G>T (p.Glu1354Asp) c.3987G>T (p.Glu1329Asp) c.3582G>T (p.Glu1194Asp) c.2940G>T (p.Glu980Asp) c.450G>T (p.Glu150Asp) n.4365G>T | |
10 | g.71732199G>A | CA377156553 | C10orf105,CDH23 | c.3928G>A (p.Ala1310Thr) c.3925G>A (p.Ala1309Thr) c.3943G>A (p.Ala1315Thr) c.-6+5529C>T (n.-6+5529C>T) n.620G>A c.4123G>A (p.Ala1375Thr) c.4057G>A (p.Ala1353Thr) c.4117G>A (p.Ala1373Thr) c.4063G>A (p.Ala1355Thr) c.3988G>A (p.Ala1330Thr) c.3583G>A (p.Ala1195Thr) c.2941G>A (p.Ala981Thr) c.451G>A (p.Ala151Thr) n.4366G>A | |
10 | g.71732199G>C | CA377156554 | C10orf105,CDH23 | c.3928G>C (p.Ala1310Pro) c.3925G>C (p.Ala1309Pro) c.3943G>C (p.Ala1315Pro) c.-6+5529C>G (n.-6+5529C>G) n.620G>C c.4123G>C (p.Ala1375Pro) c.4057G>C (p.Ala1353Pro) c.4117G>C (p.Ala1373Pro) c.4063G>C (p.Ala1355Pro) c.3988G>C (p.Ala1330Pro) c.3583G>C (p.Ala1195Pro) c.2941G>C (p.Ala981Pro) c.451G>C (p.Ala151Pro) n.4366G>C | |
10 | g.71732199G= | CA1918849719 | C10orf105,CDH23 | c.3928G= (p.Ala1310=) c.3925G= (p.Ala1309=) c.3943G= (p.Ala1315=) c.-6+5529C= (n.-6+5529C=) n.620G= c.4123G= (p.Ala1375=) c.4057G= (p.Ala1353=) c.4117G= (p.Ala1373=) c.4063G= (p.Ala1355=) c.3988G= (p.Ala1330=) c.3583G= (p.Ala1195=) c.2941G= (p.Ala981=) c.451G= (p.Ala151=) n.4366G= | |
10 | g.71732199G>T | CA5544871 | C10orf105,CDH23 | c.3928G>T (p.Ala1310Ser) c.3925G>T (p.Ala1309Ser) c.3943G>T (p.Ala1315Ser) c.-6+5529C>A (n.-6+5529C>A) n.620G>T c.4123G>T (p.Ala1375Ser) c.4057G>T (p.Ala1353Ser) c.4117G>T (p.Ala1373Ser) c.4063G>T (p.Ala1355Ser) c.3988G>T (p.Ala1330Ser) c.3583G>T (p.Ala1195Ser) c.2941G>T (p.Ala981Ser) c.451G>T (p.Ala151Ser) n.4366G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732200C>A | CA269903 | C10orf105,CDH23 | c.3929C>A (p.Ala1310Asp) c.3926C>A (p.Ala1309Asp) c.3944C>A (p.Ala1315Asp) c.-6+5528G>T (n.-6+5528G>T) n.621C>A c.4124C>A (p.Ala1375Asp) c.4058C>A (p.Ala1353Asp) c.4118C>A (p.Ala1373Asp) c.4064C>A (p.Ala1355Asp) c.3989C>A (p.Ala1330Asp) c.3584C>A (p.Ala1195Asp) c.2942C>A (p.Ala981Asp) c.452C>A (p.Ala151Asp) n.4367C>A | ClinVar dbSNP |
10 | g.71732200C= | CA1918849720 | C10orf105,CDH23 | c.3929C= (p.Ala1310=) c.3926C= (p.Ala1309=) c.3944C= (p.Ala1315=) c.-6+5528G= (n.-6+5528G=) n.621C= c.4124C= (p.Ala1375=) c.4058C= (p.Ala1353=) c.4118C= (p.Ala1373=) c.4064C= (p.Ala1355=) c.3989C= (p.Ala1330=) c.3584C= (p.Ala1195=) c.2942C= (p.Ala981=) c.452C= (p.Ala151=) n.4367C= | |
10 | g.71732200C>G | CA377156555 | C10orf105,CDH23 | c.3929C>G (p.Ala1310Gly) c.3926C>G (p.Ala1309Gly) c.3944C>G (p.Ala1315Gly) c.-6+5528G>C (n.-6+5528G>C) n.621C>G c.4124C>G (p.Ala1375Gly) c.4058C>G (p.Ala1353Gly) c.4118C>G (p.Ala1373Gly) c.4064C>G (p.Ala1355Gly) c.3989C>G (p.Ala1330Gly) c.3584C>G (p.Ala1195Gly) c.2942C>G (p.Ala981Gly) c.452C>G (p.Ala151Gly) n.4367C>G | |
10 | g.71732200C>T | CA377156556 | C10orf105,CDH23 | c.3929C>T (p.Ala1310Val) c.3926C>T (p.Ala1309Val) c.3944C>T (p.Ala1315Val) c.-6+5528G>A (n.-6+5528G>A) n.621C>T c.4124C>T (p.Ala1375Val) c.4058C>T (p.Ala1353Val) c.4118C>T (p.Ala1373Val) c.4064C>T (p.Ala1355Val) c.3989C>T (p.Ala1330Val) c.3584C>T (p.Ala1195Val) c.2942C>T (p.Ala981Val) c.452C>T (p.Ala151Val) n.4367C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71732201C>A | CA470284025 | C10orf105,CDH23 | c.3930C>A (p.Ala1310=) c.3927C>A (p.Ala1309=) c.3945C>A (p.Ala1315=) c.-6+5527G>T (n.-6+5527G>T) n.622C>A c.4125C>A (p.Ala1375=) c.4059C>A (p.Ala1353=) c.4119C>A (p.Ala1373=) c.4065C>A (p.Ala1355=) c.3990C>A (p.Ala1330=) c.3585C>A (p.Ala1195=) c.2943C>A (p.Ala981=) c.453C>A (p.Ala151=) n.4368C>A | |
10 | g.71732201C= | CA1918849721 | C10orf105,CDH23 | c.3930C= (p.Ala1310=) c.3927C= (p.Ala1309=) c.3945C= (p.Ala1315=) c.-6+5527G= (n.-6+5527G=) n.622C= c.4125C= (p.Ala1375=) c.4059C= (p.Ala1353=) c.4119C= (p.Ala1373=) c.4065C= (p.Ala1355=) c.3990C= (p.Ala1330=) c.3585C= (p.Ala1195=) c.2943C= (p.Ala981=) c.453C= (p.Ala151=) n.4368C= | |
10 | g.71732201C>G | CA470284029 | C10orf105,CDH23 | c.3930C>G (p.Ala1310=) c.3927C>G (p.Ala1309=) c.3945C>G (p.Ala1315=) c.-6+5527G>C (n.-6+5527G>C) n.622C>G c.4125C>G (p.Ala1375=) c.4059C>G (p.Ala1353=) c.4119C>G (p.Ala1373=) c.4065C>G (p.Ala1355=) c.3990C>G (p.Ala1330=) c.3585C>G (p.Ala1195=) c.2943C>G (p.Ala981=) c.453C>G (p.Ala151=) n.4368C>G | |
10 | g.71732201C>T | CA5544872 | C10orf105,CDH23 | c.3930C>T (p.Ala1310=) c.3927C>T (p.Ala1309=) c.3945C>T (p.Ala1315=) c.-6+5527G>A (n.-6+5527G>A) n.622C>T c.4125C>T (p.Ala1375=) c.4059C>T (p.Ala1353=) c.4119C>T (p.Ala1373=) c.4065C>T (p.Ala1355=) c.3990C>T (p.Ala1330=) c.3585C>T (p.Ala1195=) c.2943C>T (p.Ala981=) c.453C>T (p.Ala151=) n.4368C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732202G>A | CA5544873 | C10orf105,CDH23 | c.3931G>A (p.Val1311Met) c.3928G>A (p.Val1310Met) c.3946G>A (p.Val1316Met) c.-6+5526C>T (n.-6+5526C>T) n.623G>A c.4126G>A (p.Val1376Met) c.4060G>A (p.Val1354Met) c.4120G>A (p.Val1374Met) c.4066G>A (p.Val1356Met) c.3991G>A (p.Val1331Met) c.3586G>A (p.Val1196Met) c.2944G>A (p.Val982Met) c.454G>A (p.Val152Met) n.4369G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732202G>C | CA377156557 | C10orf105,CDH23 | c.3931G>C (p.Val1311Leu) c.3928G>C (p.Val1310Leu) c.3946G>C (p.Val1316Leu) c.-6+5526C>G (n.-6+5526C>G) n.623G>C c.4126G>C (p.Val1376Leu) c.4060G>C (p.Val1354Leu) c.4120G>C (p.Val1374Leu) c.4066G>C (p.Val1356Leu) c.3991G>C (p.Val1331Leu) c.3586G>C (p.Val1196Leu) c.2944G>C (p.Val982Leu) c.454G>C (p.Val152Leu) n.4369G>C | |
10 | g.71732202G= | CA1918849722 | C10orf105,CDH23 | c.3931G= (p.Val1311=) c.3928G= (p.Val1310=) c.3946G= (p.Val1316=) c.-6+5526C= (n.-6+5526C=) n.623G= c.4126G= (p.Val1376=) c.4060G= (p.Val1354=) c.4120G= (p.Val1374=) c.4066G= (p.Val1356=) c.3991G= (p.Val1331=) c.3586G= (p.Val1196=) c.2944G= (p.Val982=) c.454G= (p.Val152=) n.4369G= | |
10 | g.71732202G>T | CA377156558 | C10orf105,CDH23 | c.3931G>T (p.Val1311Leu) c.3928G>T (p.Val1310Leu) c.3946G>T (p.Val1316Leu) c.-6+5526C>A (n.-6+5526C>A) n.623G>T c.4126G>T (p.Val1376Leu) c.4060G>T (p.Val1354Leu) c.4120G>T (p.Val1374Leu) c.4066G>T (p.Val1356Leu) c.3991G>T (p.Val1331Leu) c.3586G>T (p.Val1196Leu) c.2944G>T (p.Val982Leu) c.454G>T (p.Val152Leu) n.4369G>T | |
10 | g.71732202_71732203insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC | CA2741105564 | C10orf105,CDH23 | c.3931_3932insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1311delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.3928_3929insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1310delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.3946_3947insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1316delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.-6+5525_-6+5526insGGGCGCGCATGAGCGCGTCTTCGGCTTCCTCAGGCCCCATGGTCAGGGCAACGACCTCGGCCTCGCGGCCTGCGTCCTCTTCTGTTTCCTTCAGCTGGACGG (n.-6+5525_-6+5526insGGGCGCGCATGAGCGCGTCTTCGGCTTCCTCAGGCCCCATGGTCAGGGCAACGACCTCGGCCTCGCGGCCTGCGTCCTCTTCTGTTTCCTTCAGCTGGACGG) n.623_624insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC c.4126_4127insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1376delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.4060_4061insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1354delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.4120_4121insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1374delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.4066_4067insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1356delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.3991_3992insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1331delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.3586_3587insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val1196delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.2944_2945insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val982delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) c.454_455insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC (p.Val152delinsAlaValGlnLeuLysGluThrGluGluAspAlaGlyArgGluAlaGluValValAlaLeuThrMetGlyProGluGluAlaGluAspAlaLeuMetArgAlaLeu) n.4369_4370insCCGTCCAGCTGAAGGAAACAGAAGAGGACGCAGGCCGCGAGGCCGAGGTCGTTGCCCTGACCATGGGGCCTGAGGAAGCCGAAGACGCGCTCATGCGCGCCC | |
10 | g.71732203T>A | CA377156559 | C10orf105,CDH23 | c.3932T>A (p.Val1311Glu) c.3929T>A (p.Val1310Glu) c.3947T>A (p.Val1316Glu) c.-6+5525A>T (n.-6+5525A>T) n.624T>A c.4127T>A (p.Val1376Glu) c.4061T>A (p.Val1354Glu) c.4121T>A (p.Val1374Glu) c.4067T>A (p.Val1356Glu) c.3992T>A (p.Val1331Glu) c.3587T>A (p.Val1196Glu) c.2945T>A (p.Val982Glu) c.455T>A (p.Val152Glu) n.4370T>A | |
10 | g.71732203T>C | CA377156560 | C10orf105,CDH23 | c.3932T>C (p.Val1311Ala) c.3929T>C (p.Val1310Ala) c.3947T>C (p.Val1316Ala) c.-6+5525A>G (n.-6+5525A>G) n.624T>C c.4127T>C (p.Val1376Ala) c.4061T>C (p.Val1354Ala) c.4121T>C (p.Val1374Ala) c.4067T>C (p.Val1356Ala) c.3992T>C (p.Val1331Ala) c.3587T>C (p.Val1196Ala) c.2945T>C (p.Val982Ala) c.455T>C (p.Val152Ala) n.4370T>C | dbSNP gnomAD v4 |
10 | g.71732203T>G | CA377156561 | C10orf105,CDH23 | c.3932T>G (p.Val1311Gly) c.3929T>G (p.Val1310Gly) c.3947T>G (p.Val1316Gly) c.-6+5525A>C (n.-6+5525A>C) n.624T>G c.4127T>G (p.Val1376Gly) c.4061T>G (p.Val1354Gly) c.4121T>G (p.Val1374Gly) c.4067T>G (p.Val1356Gly) c.3992T>G (p.Val1331Gly) c.3587T>G (p.Val1196Gly) c.2945T>G (p.Val982Gly) c.455T>G (p.Val152Gly) n.4370T>G | |
10 | g.71732204G>A | CA470284034 | C10orf105,CDH23 | c.3933G>A (p.Val1311=) c.3930G>A (p.Val1310=) c.3948G>A (p.Val1316=) c.-6+5524C>T (n.-6+5524C>T) n.625G>A c.4128G>A (p.Val1376=) c.4062G>A (p.Val1354=) c.4122G>A (p.Val1374=) c.4068G>A (p.Val1356=) c.3993G>A (p.Val1331=) c.3588G>A (p.Val1196=) c.2946G>A (p.Val982=) c.456G>A (p.Val152=) n.4371G>A | |
10 | g.71732204G>C | CA470284036 | C10orf105,CDH23 | c.3933G>C (p.Val1311=) c.3930G>C (p.Val1310=) c.3948G>C (p.Val1316=) c.-6+5524C>G (n.-6+5524C>G) n.625G>C c.4128G>C (p.Val1376=) c.4062G>C (p.Val1354=) c.4122G>C (p.Val1374=) c.4068G>C (p.Val1356=) c.3993G>C (p.Val1331=) c.3588G>C (p.Val1196=) c.2946G>C (p.Val982=) c.456G>C (p.Val152=) n.4371G>C | |
10 | g.71732204G>T | CA470284037 | C10orf105,CDH23 | c.3933G>T (p.Val1311=) c.3930G>T (p.Val1310=) c.3948G>T (p.Val1316=) c.-6+5524C>A (n.-6+5524C>A) n.625G>T c.4128G>T (p.Val1376=) c.4062G>T (p.Val1354=) c.4122G>T (p.Val1374=) c.4068G>T (p.Val1356=) c.3993G>T (p.Val1331=) c.3588G>T (p.Val1196=) c.2946G>T (p.Val982=) c.456G>T (p.Val152=) n.4371G>T | |
10 | g.71732205C>A | CA377156563 | C10orf105,CDH23 | c.3934C>A (p.Gln1312Lys) c.3931C>A (p.Gln1311Lys) c.3949C>A (p.Gln1317Lys) c.-6+5523G>T (n.-6+5523G>T) n.626C>A c.4129C>A (p.Gln1377Lys) c.4063C>A (p.Gln1355Lys) c.4123C>A (p.Gln1375Lys) c.4069C>A (p.Gln1357Lys) c.3994C>A (p.Gln1332Lys) c.3589C>A (p.Gln1197Lys) c.2947C>A (p.Gln983Lys) c.457C>A (p.Gln153Lys) n.4372C>A | |
10 | g.71732205C>G | CA377156564 | C10orf105,CDH23 | c.3934C>G (p.Gln1312Glu) c.3931C>G (p.Gln1311Glu) c.3949C>G (p.Gln1317Glu) c.-6+5523G>C (n.-6+5523G>C) n.626C>G c.4129C>G (p.Gln1377Glu) c.4063C>G (p.Gln1355Glu) c.4123C>G (p.Gln1375Glu) c.4069C>G (p.Gln1357Glu) c.3994C>G (p.Gln1332Glu) c.3589C>G (p.Gln1197Glu) c.2947C>G (p.Gln983Glu) c.457C>G (p.Gln153Glu) n.4372C>G | |
10 | g.71732205C>T | CA377156562 | C10orf105,CDH23 | c.3934C>T (p.Gln1312Ter) c.3931C>T (p.Gln1311Ter) c.3949C>T (p.Gln1317Ter) c.-6+5523G>A (n.-6+5523G>A) n.626C>T c.4129C>T (p.Gln1377Ter) c.4063C>T (p.Gln1355Ter) c.4123C>T (p.Gln1375Ter) c.4069C>T (p.Gln1357Ter) c.3994C>T (p.Gln1332Ter) c.3589C>T (p.Gln1197Ter) c.2947C>T (p.Gln983Ter) c.457C>T (p.Gln153Ter) n.4372C>T | dbSNP |
10 | g.71732206A>C | CA377156565 | C10orf105,CDH23 | c.3935A>C (p.Gln1312Pro) c.3932A>C (p.Gln1311Pro) c.3950A>C (p.Gln1317Pro) c.-6+5522T>G (n.-6+5522T>G) n.627A>C c.4130A>C (p.Gln1377Pro) c.4064A>C (p.Gln1355Pro) c.4124A>C (p.Gln1375Pro) c.4070A>C (p.Gln1357Pro) c.3995A>C (p.Gln1332Pro) c.3590A>C (p.Gln1197Pro) c.2948A>C (p.Gln983Pro) c.458A>C (p.Gln153Pro) n.4373A>C | |
10 | g.71732206A>G | CA377156566 | C10orf105,CDH23 | c.3935A>G (p.Gln1312Arg) c.3932A>G (p.Gln1311Arg) c.3950A>G (p.Gln1317Arg) c.-6+5522T>C (n.-6+5522T>C) n.627A>G c.4130A>G (p.Gln1377Arg) c.4064A>G (p.Gln1355Arg) c.4124A>G (p.Gln1375Arg) c.4070A>G (p.Gln1357Arg) c.3995A>G (p.Gln1332Arg) c.3590A>G (p.Gln1197Arg) c.2948A>G (p.Gln983Arg) c.458A>G (p.Gln153Arg) n.4373A>G | |
10 | g.71732206A>T | CA377156567 | C10orf105,CDH23 | c.3935A>T (p.Gln1312Leu) c.3932A>T (p.Gln1311Leu) c.3950A>T (p.Gln1317Leu) c.-6+5522T>A (n.-6+5522T>A) n.627A>T c.4130A>T (p.Gln1377Leu) c.4064A>T (p.Gln1355Leu) c.4124A>T (p.Gln1375Leu) c.4070A>T (p.Gln1357Leu) c.3995A>T (p.Gln1332Leu) c.3590A>T (p.Gln1197Leu) c.2948A>T (p.Gln983Leu) c.458A>T (p.Gln153Leu) n.4373A>T | dbSNP |
10 | g.71732207G>A | CA470284043 | C10orf105,CDH23 | c.3936G>A (p.Gln1312=) c.3933G>A (p.Gln1311=) c.3951G>A (p.Gln1317=) c.-6+5521C>T (n.-6+5521C>T) n.628G>A c.4131G>A (p.Gln1377=) c.4065G>A (p.Gln1355=) c.4125G>A (p.Gln1375=) c.4071G>A (p.Gln1357=) c.3996G>A (p.Gln1332=) c.3591G>A (p.Gln1197=) c.2949G>A (p.Gln983=) c.459G>A (p.Gln153=) n.4374G>A | dbSNP |
10 | g.71732207G>C | CA377156568 | C10orf105,CDH23 | c.3936G>C (p.Gln1312His) c.3933G>C (p.Gln1311His) c.3951G>C (p.Gln1317His) c.-6+5521C>G (n.-6+5521C>G) n.628G>C c.4131G>C (p.Gln1377His) c.4065G>C (p.Gln1355His) c.4125G>C (p.Gln1375His) c.4071G>C (p.Gln1357His) c.3996G>C (p.Gln1332His) c.3591G>C (p.Gln1197His) c.2949G>C (p.Gln983His) c.459G>C (p.Gln153His) n.4374G>C | |
10 | g.71732207G>T | CA377156569 | C10orf105,CDH23 | c.3936G>T (p.Gln1312His) c.3933G>T (p.Gln1311His) c.3951G>T (p.Gln1317His) c.-6+5521C>A (n.-6+5521C>A) n.628G>T c.4131G>T (p.Gln1377His) c.4065G>T (p.Gln1355His) c.4125G>T (p.Gln1375His) c.4071G>T (p.Gln1357His) c.3996G>T (p.Gln1332His) c.3591G>T (p.Gln1197His) c.2949G>T (p.Gln983His) c.459G>T (p.Gln153His) n.4374G>T | |
10 | g.71732208T>A | CA377156572 | C10orf105,CDH23 | c.3937T>A (p.Phe1313Ile) c.3934T>A (p.Phe1312Ile) c.3952T>A (p.Phe1318Ile) c.-6+5520A>T (n.-6+5520A>T) n.629T>A c.4132T>A (p.Phe1378Ile) c.4066T>A (p.Phe1356Ile) c.4126T>A (p.Phe1376Ile) c.4072T>A (p.Phe1358Ile) c.3997T>A (p.Phe1333Ile) c.3592T>A (p.Phe1198Ile) c.2950T>A (p.Phe984Ile) c.460T>A (p.Phe154Ile) n.4375T>A | |
10 | g.71732208T>C | CA377156570 | C10orf105,CDH23 | c.3937T>C (p.Phe1313Leu) c.3934T>C (p.Phe1312Leu) c.3952T>C (p.Phe1318Leu) c.-6+5520A>G (n.-6+5520A>G) n.629T>C c.4132T>C (p.Phe1378Leu) c.4066T>C (p.Phe1356Leu) c.4126T>C (p.Phe1376Leu) c.4072T>C (p.Phe1358Leu) c.3997T>C (p.Phe1333Leu) c.3592T>C (p.Phe1198Leu) c.2950T>C (p.Phe984Leu) c.460T>C (p.Phe154Leu) n.4375T>C | dbSNP |
10 | g.71732208T>G | CA377156571 | C10orf105,CDH23 | c.3937T>G (p.Phe1313Val) c.3934T>G (p.Phe1312Val) c.3952T>G (p.Phe1318Val) c.-6+5520A>C (n.-6+5520A>C) n.629T>G c.4132T>G (p.Phe1378Val) c.4066T>G (p.Phe1356Val) c.4126T>G (p.Phe1376Val) c.4072T>G (p.Phe1358Val) c.3997T>G (p.Phe1333Val) c.3592T>G (p.Phe1198Val) c.2950T>G (p.Phe984Val) c.460T>G (p.Phe154Val) n.4375T>G | gnomAD v4 |
10 | g.71732208T= | CA1918849723 | C10orf105,CDH23 | c.3937T= (p.Phe1313=) c.3934T= (p.Phe1312=) c.3952T= (p.Phe1318=) c.-6+5520A= (n.-6+5520A=) n.629T= c.4132T= (p.Phe1378=) c.4066T= (p.Phe1356=) c.4126T= (p.Phe1376=) c.4072T= (p.Phe1358=) c.3997T= (p.Phe1333=) c.3592T= (p.Phe1198=) c.2950T= (p.Phe984=) c.460T= (p.Phe154=) n.4375T= | |
10 | g.71732209T>A | CA377156573 | C10orf105,CDH23 | c.3938T>A (p.Phe1313Tyr) c.3935T>A (p.Phe1312Tyr) c.3953T>A (p.Phe1318Tyr) c.-6+5519A>T (n.-6+5519A>T) n.630T>A c.4133T>A (p.Phe1378Tyr) c.4067T>A (p.Phe1356Tyr) c.4127T>A (p.Phe1376Tyr) c.4073T>A (p.Phe1358Tyr) c.3998T>A (p.Phe1333Tyr) c.3593T>A (p.Phe1198Tyr) c.2951T>A (p.Phe984Tyr) c.461T>A (p.Phe154Tyr) n.4376T>A | |
10 | g.71732209T>C | CA377156574 | C10orf105,CDH23 | c.3938T>C (p.Phe1313Ser) c.3935T>C (p.Phe1312Ser) c.3953T>C (p.Phe1318Ser) c.-6+5519A>G (n.-6+5519A>G) n.630T>C c.4133T>C (p.Phe1378Ser) c.4067T>C (p.Phe1356Ser) c.4127T>C (p.Phe1376Ser) c.4073T>C (p.Phe1358Ser) c.3998T>C (p.Phe1333Ser) c.3593T>C (p.Phe1198Ser) c.2951T>C (p.Phe984Ser) c.461T>C (p.Phe154Ser) n.4376T>C | |
10 | g.71732209T>G | CA377156575 | C10orf105,CDH23 | c.3938T>G (p.Phe1313Cys) c.3935T>G (p.Phe1312Cys) c.3953T>G (p.Phe1318Cys) c.-6+5519A>C (n.-6+5519A>C) n.630T>G c.4133T>G (p.Phe1378Cys) c.4067T>G (p.Phe1356Cys) c.4127T>G (p.Phe1376Cys) c.4073T>G (p.Phe1358Cys) c.3998T>G (p.Phe1333Cys) c.3593T>G (p.Phe1198Cys) c.2951T>G (p.Phe984Cys) c.461T>G (p.Phe154Cys) n.4376T>G | |
10 | g.71732210C>A | CA377156576 | C10orf105,CDH23 | c.3939C>A (p.Phe1313Leu) c.3936C>A (p.Phe1312Leu) c.3954C>A (p.Phe1318Leu) c.-6+5518G>T (n.-6+5518G>T) n.631C>A c.4134C>A (p.Phe1378Leu) c.4068C>A (p.Phe1356Leu) c.4128C>A (p.Phe1376Leu) c.4074C>A (p.Phe1358Leu) c.3999C>A (p.Phe1333Leu) c.3594C>A (p.Phe1198Leu) c.2952C>A (p.Phe984Leu) c.462C>A (p.Phe154Leu) n.4377C>A | |
10 | g.71732210C>G | CA377156577 | C10orf105,CDH23 | c.3939C>G (p.Phe1313Leu) c.3936C>G (p.Phe1312Leu) c.3954C>G (p.Phe1318Leu) c.-6+5518G>C (n.-6+5518G>C) n.631C>G c.4134C>G (p.Phe1378Leu) c.4068C>G (p.Phe1356Leu) c.4128C>G (p.Phe1376Leu) c.4074C>G (p.Phe1358Leu) c.3999C>G (p.Phe1333Leu) c.3594C>G (p.Phe1198Leu) c.2952C>G (p.Phe984Leu) c.462C>G (p.Phe154Leu) n.4377C>G | |
10 | g.71732210C>T | CA470284052 | C10orf105,CDH23 | c.3939C>T (p.Phe1313=) c.3936C>T (p.Phe1312=) c.3954C>T (p.Phe1318=) c.-6+5518G>A (n.-6+5518G>A) n.631C>T c.4134C>T (p.Phe1378=) c.4068C>T (p.Phe1356=) c.4128C>T (p.Phe1376=) c.4074C>T (p.Phe1358=) c.3999C>T (p.Phe1333=) c.3594C>T (p.Phe1198=) c.2952C>T (p.Phe984=) c.462C>T (p.Phe154=) n.4377C>T | dbSNP COSMIC |
10 | g.71732211T>A | CA377156578 | C10orf105,CDH23 | c.3940T>A (p.Ser1314Thr) c.3937T>A (p.Ser1313Thr) c.3955T>A (p.Ser1319Thr) c.-6+5517A>T (n.-6+5517A>T) n.632T>A c.4135T>A (p.Ser1379Thr) c.4069T>A (p.Ser1357Thr) c.4129T>A (p.Ser1377Thr) c.4075T>A (p.Ser1359Thr) c.4000T>A (p.Ser1334Thr) c.3595T>A (p.Ser1199Thr) c.2953T>A (p.Ser985Thr) c.463T>A (p.Ser155Thr) n.4378T>A | |
10 | g.71732211T>C | CA377156580 | C10orf105,CDH23 | c.3940T>C (p.Ser1314Pro) c.3937T>C (p.Ser1313Pro) c.3955T>C (p.Ser1319Pro) c.-6+5517A>G (n.-6+5517A>G) n.632T>C c.4135T>C (p.Ser1379Pro) c.4069T>C (p.Ser1357Pro) c.4129T>C (p.Ser1377Pro) c.4075T>C (p.Ser1359Pro) c.4000T>C (p.Ser1334Pro) c.3595T>C (p.Ser1199Pro) c.2953T>C (p.Ser985Pro) c.463T>C (p.Ser155Pro) n.4378T>C | |
10 | g.71732211T>G | CA377156579 | C10orf105,CDH23 | c.3940T>G (p.Ser1314Ala) c.3937T>G (p.Ser1313Ala) c.3955T>G (p.Ser1319Ala) c.-6+5517A>C (n.-6+5517A>C) n.632T>G c.4135T>G (p.Ser1379Ala) c.4069T>G (p.Ser1357Ala) c.4129T>G (p.Ser1377Ala) c.4075T>G (p.Ser1359Ala) c.4000T>G (p.Ser1334Ala) c.3595T>G (p.Ser1199Ala) c.2953T>G (p.Ser985Ala) c.463T>G (p.Ser155Ala) n.4378T>G | |
10 | g.71732212C>A | CA377156581 | C10orf105,CDH23 | c.3941C>A (p.Ser1314Tyr) c.3938C>A (p.Ser1313Tyr) c.3956C>A (p.Ser1319Tyr) c.-6+5516G>T (n.-6+5516G>T) n.633C>A c.4136C>A (p.Ser1379Tyr) c.4070C>A (p.Ser1357Tyr) c.4130C>A (p.Ser1377Tyr) c.4076C>A (p.Ser1359Tyr) c.4001C>A (p.Ser1334Tyr) c.3596C>A (p.Ser1199Tyr) c.2954C>A (p.Ser985Tyr) c.464C>A (p.Ser155Tyr) n.4379C>A | |
10 | g.71732212C>G | CA377156583 | C10orf105,CDH23 | c.3941C>G (p.Ser1314Cys) c.3938C>G (p.Ser1313Cys) c.3956C>G (p.Ser1319Cys) c.-6+5516G>C (n.-6+5516G>C) n.633C>G c.4136C>G (p.Ser1379Cys) c.4070C>G (p.Ser1357Cys) c.4130C>G (p.Ser1377Cys) c.4076C>G (p.Ser1359Cys) c.4001C>G (p.Ser1334Cys) c.3596C>G (p.Ser1199Cys) c.2954C>G (p.Ser985Cys) c.464C>G (p.Ser155Cys) n.4379C>G | |
10 | g.71732212C>T | CA377156582 | C10orf105,CDH23 | c.3941C>T (p.Ser1314Phe) c.3938C>T (p.Ser1313Phe) c.3956C>T (p.Ser1319Phe) c.-6+5516G>A (n.-6+5516G>A) n.633C>T c.4136C>T (p.Ser1379Phe) c.4070C>T (p.Ser1357Phe) c.4130C>T (p.Ser1377Phe) c.4076C>T (p.Ser1359Phe) c.4001C>T (p.Ser1334Phe) c.3596C>T (p.Ser1199Phe) c.2954C>T (p.Ser985Phe) c.464C>T (p.Ser155Phe) n.4379C>T | |
10 | g.71732213C>A | CA470284069 | C10orf105,CDH23 | c.3942C>A (p.Ser1314=) c.3939C>A (p.Ser1313=) c.3957C>A (p.Ser1319=) c.-6+5515G>T (n.-6+5515G>T) n.634C>A c.4137C>A (p.Ser1379=) c.4071C>A (p.Ser1357=) c.4131C>A (p.Ser1377=) c.4077C>A (p.Ser1359=) c.4002C>A (p.Ser1334=) c.3597C>A (p.Ser1199=) c.2955C>A (p.Ser985=) c.465C>A (p.Ser155=) n.4380C>A | dbSNP |
10 | g.71732213C>G | CA470284071 | C10orf105,CDH23 | c.3942C>G (p.Ser1314=) c.3939C>G (p.Ser1313=) c.3957C>G (p.Ser1319=) c.-6+5515G>C (n.-6+5515G>C) n.634C>G c.4137C>G (p.Ser1379=) c.4071C>G (p.Ser1357=) c.4131C>G (p.Ser1377=) c.4077C>G (p.Ser1359=) c.4002C>G (p.Ser1334=) c.3597C>G (p.Ser1199=) c.2955C>G (p.Ser985=) c.465C>G (p.Ser155=) n.4380C>G | |
10 | g.71732213C>T | CA470284070 | C10orf105,CDH23 | c.3942C>T (p.Ser1314=) c.3939C>T (p.Ser1313=) c.3957C>T (p.Ser1319=) c.-6+5515G>A (n.-6+5515G>A) n.634C>T c.4137C>T (p.Ser1379=) c.4071C>T (p.Ser1357=) c.4131C>T (p.Ser1377=) c.4077C>T (p.Ser1359=) c.4002C>T (p.Ser1334=) c.3597C>T (p.Ser1199=) c.2955C>T (p.Ser985=) c.465C>T (p.Ser155=) n.4380C>T | |
10 | g.71732214A>C | CA377156584 | C10orf105,CDH23 | c.3943A>C (p.Asn1315His) c.3940A>C (p.Asn1314His) c.3958A>C (p.Asn1320His) c.-6+5514T>G (n.-6+5514T>G) n.635A>C c.4138A>C (p.Asn1380His) c.4072A>C (p.Asn1358His) c.4132A>C (p.Asn1378His) c.4078A>C (p.Asn1360His) c.4003A>C (p.Asn1335His) c.3598A>C (p.Asn1200His) c.2956A>C (p.Asn986His) c.466A>C (p.Asn156His) n.4381A>C | COSMIC COSMIC |
10 | g.71732214A>G | CA377156586 | C10orf105,CDH23 | c.3943A>G (p.Asn1315Asp) c.3940A>G (p.Asn1314Asp) c.3958A>G (p.Asn1320Asp) c.-6+5514T>C (n.-6+5514T>C) n.635A>G c.4138A>G (p.Asn1380Asp) c.4072A>G (p.Asn1358Asp) c.4132A>G (p.Asn1378Asp) c.4078A>G (p.Asn1360Asp) c.4003A>G (p.Asn1335Asp) c.3598A>G (p.Asn1200Asp) c.2956A>G (p.Asn986Asp) c.466A>G (p.Asn156Asp) n.4381A>G | |
10 | g.71732214A>T | CA377156585 | C10orf105,CDH23 | c.3943A>T (p.Asn1315Tyr) c.3940A>T (p.Asn1314Tyr) c.3958A>T (p.Asn1320Tyr) c.-6+5514T>A (n.-6+5514T>A) n.635A>T c.4138A>T (p.Asn1380Tyr) c.4072A>T (p.Asn1358Tyr) c.4132A>T (p.Asn1378Tyr) c.4078A>T (p.Asn1360Tyr) c.4003A>T (p.Asn1335Tyr) c.3598A>T (p.Asn1200Tyr) c.2956A>T (p.Asn986Tyr) c.466A>T (p.Asn156Tyr) n.4381A>T | |
10 | g.71732215A= | CA1918849724 | C10orf105,CDH23 | c.3944A= (p.Asn1315=) c.3941A= (p.Asn1314=) c.3959A= (p.Asn1320=) c.-6+5513T= (n.-6+5513T=) n.636A= c.4139A= (p.Asn1380=) c.4073A= (p.Asn1358=) c.4133A= (p.Asn1378=) c.4079A= (p.Asn1360=) c.4004A= (p.Asn1335=) c.3599A= (p.Asn1200=) c.2957A= (p.Asn986=) c.467A= (p.Asn156=) n.4382A= | |
10 | g.71732215A>C | CA377156587 | C10orf105,CDH23 | c.3944A>C (p.Asn1315Thr) c.3941A>C (p.Asn1314Thr) c.3959A>C (p.Asn1320Thr) c.-6+5513T>G (n.-6+5513T>G) n.636A>C c.4139A>C (p.Asn1380Thr) c.4073A>C (p.Asn1358Thr) c.4133A>C (p.Asn1378Thr) c.4079A>C (p.Asn1360Thr) c.4004A>C (p.Asn1335Thr) c.3599A>C (p.Asn1200Thr) c.2957A>C (p.Asn986Thr) c.467A>C (p.Asn156Thr) n.4382A>C | |
10 | g.71732215A>G | CA5544874 | C10orf105,CDH23 | c.3944A>G (p.Asn1315Ser) c.3941A>G (p.Asn1314Ser) c.3959A>G (p.Asn1320Ser) c.-6+5513T>C (n.-6+5513T>C) n.636A>G c.4139A>G (p.Asn1380Ser) c.4073A>G (p.Asn1358Ser) c.4133A>G (p.Asn1378Ser) c.4079A>G (p.Asn1360Ser) c.4004A>G (p.Asn1335Ser) c.3599A>G (p.Asn1200Ser) c.2957A>G (p.Asn986Ser) c.467A>G (p.Asn156Ser) n.4382A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732215A>T | CA377156588 | C10orf105,CDH23 | c.3944A>T (p.Asn1315Ile) c.3941A>T (p.Asn1314Ile) c.3959A>T (p.Asn1320Ile) c.-6+5513T>A (n.-6+5513T>A) n.636A>T c.4139A>T (p.Asn1380Ile) c.4073A>T (p.Asn1358Ile) c.4133A>T (p.Asn1378Ile) c.4079A>T (p.Asn1360Ile) c.4004A>T (p.Asn1335Ile) c.3599A>T (p.Asn1200Ile) c.2957A>T (p.Asn986Ile) c.467A>T (p.Asn156Ile) n.4382A>T | dbSNP |
10 | g.71732216T>A | CA377156589 | C10orf105,CDH23 | c.3945T>A (p.Asn1315Lys) c.3942T>A (p.Asn1314Lys) c.3960T>A (p.Asn1320Lys) c.-6+5512A>T (n.-6+5512A>T) n.637T>A c.4140T>A (p.Asn1380Lys) c.4074T>A (p.Asn1358Lys) c.4134T>A (p.Asn1378Lys) c.4080T>A (p.Asn1360Lys) c.4005T>A (p.Asn1335Lys) c.3600T>A (p.Asn1200Lys) c.2958T>A (p.Asn986Lys) c.468T>A (p.Asn156Lys) n.4383T>A | |
10 | g.71732216T>C | CA5544875 | C10orf105,CDH23 | c.3945T>C (p.Asn1315=) c.3942T>C (p.Asn1314=) c.3960T>C (p.Asn1320=) c.-6+5512A>G (n.-6+5512A>G) n.637T>C c.4140T>C (p.Asn1380=) c.4074T>C (p.Asn1358=) c.4134T>C (p.Asn1378=) c.4080T>C (p.Asn1360=) c.4005T>C (p.Asn1335=) c.3600T>C (p.Asn1200=) c.2958T>C (p.Asn986=) c.468T>C (p.Asn156=) n.4383T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732216T>G | CA377156590 | C10orf105,CDH23 | c.3945T>G (p.Asn1315Lys) c.3942T>G (p.Asn1314Lys) c.3960T>G (p.Asn1320Lys) c.-6+5512A>C (n.-6+5512A>C) n.637T>G c.4140T>G (p.Asn1380Lys) c.4074T>G (p.Asn1358Lys) c.4134T>G (p.Asn1378Lys) c.4080T>G (p.Asn1360Lys) c.4005T>G (p.Asn1335Lys) c.3600T>G (p.Asn1200Lys) c.2958T>G (p.Asn986Lys) c.468T>G (p.Asn156Lys) n.4383T>G | |
10 | g.71732216T= | CA1918849725 | C10orf105,CDH23 | c.3945T= (p.Asn1315=) c.3942T= (p.Asn1314=) c.3960T= (p.Asn1320=) c.-6+5512A= (n.-6+5512A=) n.637T= c.4140T= (p.Asn1380=) c.4074T= (p.Asn1358=) c.4134T= (p.Asn1378=) c.4080T= (p.Asn1360=) c.4005T= (p.Asn1335=) c.3600T= (p.Asn1200=) c.2958T= (p.Asn986=) c.468T= (p.Asn156=) n.4383T= | |
10 | g.71732217G>A | CA377156591 | C10orf105,CDH23 | c.3946G>A (p.Ala1316Thr) c.3943G>A (p.Ala1315Thr) c.3961G>A (p.Ala1321Thr) c.-6+5511C>T (n.-6+5511C>T) n.638G>A c.4141G>A (p.Ala1381Thr) c.4075G>A (p.Ala1359Thr) c.4135G>A (p.Ala1379Thr) c.4081G>A (p.Ala1361Thr) c.4006G>A (p.Ala1336Thr) c.3601G>A (p.Ala1201Thr) c.2959G>A (p.Ala987Thr) c.469G>A (p.Ala157Thr) n.4384G>A | |
10 | g.71732217G>C | CA377156593 | C10orf105,CDH23 | c.3946G>C (p.Ala1316Pro) c.3943G>C (p.Ala1315Pro) c.3961G>C (p.Ala1321Pro) c.-6+5511C>G (n.-6+5511C>G) n.638G>C c.4141G>C (p.Ala1381Pro) c.4075G>C (p.Ala1359Pro) c.4135G>C (p.Ala1379Pro) c.4081G>C (p.Ala1361Pro) c.4006G>C (p.Ala1336Pro) c.3601G>C (p.Ala1201Pro) c.2959G>C (p.Ala987Pro) c.469G>C (p.Ala157Pro) n.4384G>C | dbSNP |
10 | g.71732217G>T | CA377156592 | C10orf105,CDH23 | c.3946G>T (p.Ala1316Ser) c.3943G>T (p.Ala1315Ser) c.3961G>T (p.Ala1321Ser) c.-6+5511C>A (n.-6+5511C>A) n.638G>T c.4141G>T (p.Ala1381Ser) c.4075G>T (p.Ala1359Ser) c.4135G>T (p.Ala1379Ser) c.4081G>T (p.Ala1361Ser) c.4006G>T (p.Ala1336Ser) c.3601G>T (p.Ala1201Ser) c.2959G>T (p.Ala987Ser) c.469G>T (p.Ala157Ser) n.4384G>T | |
10 | g.71732218C>A | CA377156594 | C10orf105,CDH23 | c.3947C>A (p.Ala1316Asp) c.3944C>A (p.Ala1315Asp) c.3962C>A (p.Ala1321Asp) c.-6+5510G>T (n.-6+5510G>T) n.639C>A c.4142C>A (p.Ala1381Asp) c.4076C>A (p.Ala1359Asp) c.4136C>A (p.Ala1379Asp) c.4082C>A (p.Ala1361Asp) c.4007C>A (p.Ala1336Asp) c.3602C>A (p.Ala1201Asp) c.2960C>A (p.Ala987Asp) c.470C>A (p.Ala157Asp) n.4385C>A | |
10 | g.71732218C>G | CA377156596 | C10orf105,CDH23 | c.3947C>G (p.Ala1316Gly) c.3944C>G (p.Ala1315Gly) c.3962C>G (p.Ala1321Gly) c.-6+5510G>C (n.-6+5510G>C) n.639C>G c.4142C>G (p.Ala1381Gly) c.4076C>G (p.Ala1359Gly) c.4136C>G (p.Ala1379Gly) c.4082C>G (p.Ala1361Gly) c.4007C>G (p.Ala1336Gly) c.3602C>G (p.Ala1201Gly) c.2960C>G (p.Ala987Gly) c.470C>G (p.Ala157Gly) n.4385C>G | |
10 | g.71732218C>T | CA377156595 | C10orf105,CDH23 | c.3947C>T (p.Ala1316Val) c.3944C>T (p.Ala1315Val) c.3962C>T (p.Ala1321Val) c.-6+5510G>A (n.-6+5510G>A) n.639C>T c.4142C>T (p.Ala1381Val) c.4076C>T (p.Ala1359Val) c.4136C>T (p.Ala1379Val) c.4082C>T (p.Ala1361Val) c.4007C>T (p.Ala1336Val) c.3602C>T (p.Ala1201Val) c.2960C>T (p.Ala987Val) c.470C>T (p.Ala157Val) n.4385C>T | dbSNP |
10 | g.71732219C>A | CA470284082 | C10orf105,CDH23 | c.3948C>A (p.Ala1316=) c.3945C>A (p.Ala1315=) c.3963C>A (p.Ala1321=) c.-6+5509G>T (n.-6+5509G>T) n.640C>A c.4143C>A (p.Ala1381=) c.4077C>A (p.Ala1359=) c.4137C>A (p.Ala1379=) c.4083C>A (p.Ala1361=) c.4008C>A (p.Ala1336=) c.3603C>A (p.Ala1201=) c.2961C>A (p.Ala987=) c.471C>A (p.Ala157=) n.4386C>A | |
10 | g.71732219C= | CA1918849726 | C10orf105,CDH23 | c.3948C= (p.Ala1316=) c.3945C= (p.Ala1315=) c.3963C= (p.Ala1321=) c.-6+5509G= (n.-6+5509G=) n.640C= c.4143C= (p.Ala1381=) c.4077C= (p.Ala1359=) c.4137C= (p.Ala1379=) c.4083C= (p.Ala1361=) c.4008C= (p.Ala1336=) c.3603C= (p.Ala1201=) c.2961C= (p.Ala987=) c.471C= (p.Ala157=) n.4386C= | |
10 | g.71732219C>G | CA470284080 | C10orf105,CDH23 | c.3948C>G (p.Ala1316=) c.3945C>G (p.Ala1315=) c.3963C>G (p.Ala1321=) c.-6+5509G>C (n.-6+5509G>C) n.640C>G c.4143C>G (p.Ala1381=) c.4077C>G (p.Ala1359=) c.4137C>G (p.Ala1379=) c.4083C>G (p.Ala1361=) c.4008C>G (p.Ala1336=) c.3603C>G (p.Ala1201=) c.2961C>G (p.Ala987=) c.471C>G (p.Ala157=) n.4386C>G | |
10 | g.71732219C>T | CA470284081 | C10orf105,CDH23 | c.3948C>T (p.Ala1316=) c.3945C>T (p.Ala1315=) c.3963C>T (p.Ala1321=) c.-6+5509G>A (n.-6+5509G>A) n.640C>T c.4143C>T (p.Ala1381=) c.4077C>T (p.Ala1359=) c.4137C>T (p.Ala1379=) c.4083C>T (p.Ala1361=) c.4008C>T (p.Ala1336=) c.3603C>T (p.Ala1201=) c.2961C>T (p.Ala987=) c.471C>T (p.Ala157=) n.4386C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732220T>A | CA377156597 | C10orf105,CDH23 | c.3949T>A (p.Ser1317Thr) c.3946T>A (p.Ser1316Thr) c.3964T>A (p.Ser1322Thr) c.-6+5508A>T (n.-6+5508A>T) n.641T>A c.4144T>A (p.Ser1382Thr) c.4078T>A (p.Ser1360Thr) c.4138T>A (p.Ser1380Thr) c.4084T>A (p.Ser1362Thr) c.4009T>A (p.Ser1337Thr) c.3604T>A (p.Ser1202Thr) c.2962T>A (p.Ser988Thr) c.472T>A (p.Ser158Thr) n.4387T>A | |
10 | g.71732220T>C | CA377156599 | C10orf105,CDH23 | c.3949T>C (p.Ser1317Pro) c.3946T>C (p.Ser1316Pro) c.3964T>C (p.Ser1322Pro) c.-6+5508A>G (n.-6+5508A>G) n.641T>C c.4144T>C (p.Ser1382Pro) c.4078T>C (p.Ser1360Pro) c.4138T>C (p.Ser1380Pro) c.4084T>C (p.Ser1362Pro) c.4009T>C (p.Ser1337Pro) c.3604T>C (p.Ser1202Pro) c.2962T>C (p.Ser988Pro) c.472T>C (p.Ser158Pro) n.4387T>C | |
10 | g.71732220T>G | CA377156598 | C10orf105,CDH23 | c.3949T>G (p.Ser1317Ala) c.3946T>G (p.Ser1316Ala) c.3964T>G (p.Ser1322Ala) c.-6+5508A>C (n.-6+5508A>C) n.641T>G c.4144T>G (p.Ser1382Ala) c.4078T>G (p.Ser1360Ala) c.4138T>G (p.Ser1380Ala) c.4084T>G (p.Ser1362Ala) c.4009T>G (p.Ser1337Ala) c.3604T>G (p.Ser1202Ala) c.2962T>G (p.Ser988Ala) c.472T>G (p.Ser158Ala) n.4387T>G | |
10 | g.71732221C>A | CA377156600 | C10orf105,CDH23 | c.3950C>A (p.Ser1317Ter) c.3947C>A (p.Ser1316Ter) c.3965C>A (p.Ser1322Ter) c.-6+5507G>T (n.-6+5507G>T) n.642C>A c.4145C>A (p.Ser1382Ter) c.4079C>A (p.Ser1360Ter) c.4139C>A (p.Ser1380Ter) c.4085C>A (p.Ser1362Ter) c.4010C>A (p.Ser1337Ter) c.3605C>A (p.Ser1202Ter) c.2963C>A (p.Ser988Ter) c.473C>A (p.Ser158Ter) n.4388C>A | |
10 | g.71732221C>G | CA377156602 | C10orf105,CDH23 | c.3950C>G (p.Ser1317Ter) c.3947C>G (p.Ser1316Ter) c.3965C>G (p.Ser1322Ter) c.-6+5507G>C (n.-6+5507G>C) n.642C>G c.4145C>G (p.Ser1382Ter) c.4079C>G (p.Ser1360Ter) c.4139C>G (p.Ser1380Ter) c.4085C>G (p.Ser1362Ter) c.4010C>G (p.Ser1337Ter) c.3605C>G (p.Ser1202Ter) c.2963C>G (p.Ser988Ter) c.473C>G (p.Ser158Ter) n.4388C>G | |
10 | g.71732221C>T | CA377156601 | C10orf105,CDH23 | c.3950C>T (p.Ser1317Leu) c.3947C>T (p.Ser1316Leu) c.3965C>T (p.Ser1322Leu) c.-6+5507G>A (n.-6+5507G>A) n.642C>T c.4145C>T (p.Ser1382Leu) c.4079C>T (p.Ser1360Leu) c.4139C>T (p.Ser1380Leu) c.4085C>T (p.Ser1362Leu) c.4010C>T (p.Ser1337Leu) c.3605C>T (p.Ser1202Leu) c.2963C>T (p.Ser988Leu) c.473C>T (p.Ser158Leu) n.4388C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71732221dup | CA2739275735 | C10orf105,CDH23 | c.3950dup (p.Tyr1318IlefsTer14) c.3947dup (p.Tyr1317IlefsTer14) c.3965dup (p.Tyr1323IlefsTer14) c.-6+5507dup (n.-6+5507dup) n.642dup c.4145dup (p.Tyr1383IlefsTer14) c.4079dup (p.Tyr1361IlefsTer14) c.4139dup (p.Tyr1381IlefsTer14) c.4085dup (p.Tyr1363IlefsTer14) c.4010dup (p.Tyr1338IlefsTer14) c.3605dup (p.Tyr1203IlefsTer14) c.2963dup (p.Tyr989IlefsTer14) c.473dup (p.Tyr159IlefsTer14) n.4388dup | ClinVar |
10 | g.71732222A>C | CA470284095 | C10orf105,CDH23 | c.3951A>C (p.Ser1317=) c.3948A>C (p.Ser1316=) c.3966A>C (p.Ser1322=) c.-6+5506T>G (n.-6+5506T>G) n.643A>C c.4146A>C (p.Ser1382=) c.4080A>C (p.Ser1360=) c.4140A>C (p.Ser1380=) c.4086A>C (p.Ser1362=) c.4011A>C (p.Ser1337=) c.3606A>C (p.Ser1202=) c.2964A>C (p.Ser988=) c.474A>C (p.Ser158=) n.4389A>C | |
10 | g.71732222A>G | CA470284096 | C10orf105,CDH23 | c.3951A>G (p.Ser1317=) c.3948A>G (p.Ser1316=) c.3966A>G (p.Ser1322=) c.-6+5506T>C (n.-6+5506T>C) n.643A>G c.4146A>G (p.Ser1382=) c.4080A>G (p.Ser1360=) c.4140A>G (p.Ser1380=) c.4086A>G (p.Ser1362=) c.4011A>G (p.Ser1337=) c.3606A>G (p.Ser1202=) c.2964A>G (p.Ser988=) c.474A>G (p.Ser158=) n.4389A>G | |
10 | g.71732222A>T | CA470284097 | C10orf105,CDH23 | c.3951A>T (p.Ser1317=) c.3948A>T (p.Ser1316=) c.3966A>T (p.Ser1322=) c.-6+5506T>A (n.-6+5506T>A) n.643A>T c.4146A>T (p.Ser1382=) c.4080A>T (p.Ser1360=) c.4140A>T (p.Ser1380=) c.4086A>T (p.Ser1362=) c.4011A>T (p.Ser1337=) c.3606A>T (p.Ser1202=) c.2964A>T (p.Ser988=) c.474A>T (p.Ser158=) n.4389A>T | |
10 | g.71732223T>A | CA377156603 | C10orf105,CDH23 | c.3952T>A (p.Tyr1318Asn) c.3949T>A (p.Tyr1317Asn) c.3967T>A (p.Tyr1323Asn) c.-6+5505A>T (n.-6+5505A>T) n.644T>A c.4147T>A (p.Tyr1383Asn) c.4081T>A (p.Tyr1361Asn) c.4141T>A (p.Tyr1381Asn) c.4087T>A (p.Tyr1363Asn) c.4012T>A (p.Tyr1338Asn) c.3607T>A (p.Tyr1203Asn) c.2965T>A (p.Tyr989Asn) c.475T>A (p.Tyr159Asn) n.4390T>A | |
10 | g.71732223T>C | CA377156604 | C10orf105,CDH23 | c.3952T>C (p.Tyr1318His) c.3949T>C (p.Tyr1317His) c.3967T>C (p.Tyr1323His) c.-6+5505A>G (n.-6+5505A>G) n.644T>C c.4147T>C (p.Tyr1383His) c.4081T>C (p.Tyr1361His) c.4141T>C (p.Tyr1381His) c.4087T>C (p.Tyr1363His) c.4012T>C (p.Tyr1338His) c.3607T>C (p.Tyr1203His) c.2965T>C (p.Tyr989His) c.475T>C (p.Tyr159His) n.4390T>C | |
10 | g.71732223T>G | CA377156605 | C10orf105,CDH23 | c.3952T>G (p.Tyr1318Asp) c.3949T>G (p.Tyr1317Asp) c.3967T>G (p.Tyr1323Asp) c.-6+5505A>C (n.-6+5505A>C) n.644T>G c.4147T>G (p.Tyr1383Asp) c.4081T>G (p.Tyr1361Asp) c.4141T>G (p.Tyr1381Asp) c.4087T>G (p.Tyr1363Asp) c.4012T>G (p.Tyr1338Asp) c.3607T>G (p.Tyr1203Asp) c.2965T>G (p.Tyr989Asp) c.475T>G (p.Tyr159Asp) n.4390T>G | |
10 | g.71732224A>C | CA377156606 | C10orf105,CDH23 | c.3953A>C (p.Tyr1318Ser) c.3950A>C (p.Tyr1317Ser) c.3968A>C (p.Tyr1323Ser) c.-6+5504T>G (n.-6+5504T>G) n.645A>C c.4148A>C (p.Tyr1383Ser) c.4082A>C (p.Tyr1361Ser) c.4142A>C (p.Tyr1381Ser) c.4088A>C (p.Tyr1363Ser) c.4013A>C (p.Tyr1338Ser) c.3608A>C (p.Tyr1203Ser) c.2966A>C (p.Tyr989Ser) c.476A>C (p.Tyr159Ser) n.4391A>C | |
10 | g.71732224A>G | CA377156607 | C10orf105,CDH23 | c.3953A>G (p.Tyr1318Cys) c.3950A>G (p.Tyr1317Cys) c.3968A>G (p.Tyr1323Cys) c.-6+5504T>C (n.-6+5504T>C) n.645A>G c.4148A>G (p.Tyr1383Cys) c.4082A>G (p.Tyr1361Cys) c.4142A>G (p.Tyr1381Cys) c.4088A>G (p.Tyr1363Cys) c.4013A>G (p.Tyr1338Cys) c.3608A>G (p.Tyr1203Cys) c.2966A>G (p.Tyr989Cys) c.476A>G (p.Tyr159Cys) n.4391A>G | |
10 | g.71732224A>T | CA377156608 | C10orf105,CDH23 | c.3953A>T (p.Tyr1318Phe) c.3950A>T (p.Tyr1317Phe) c.3968A>T (p.Tyr1323Phe) c.-6+5504T>A (n.-6+5504T>A) n.645A>T c.4148A>T (p.Tyr1383Phe) c.4082A>T (p.Tyr1361Phe) c.4142A>T (p.Tyr1381Phe) c.4088A>T (p.Tyr1363Phe) c.4013A>T (p.Tyr1338Phe) c.3608A>T (p.Tyr1203Phe) c.2966A>T (p.Tyr989Phe) c.476A>T (p.Tyr159Phe) n.4391A>T | |
10 | g.71732225C>A | CA377156609 | C10orf105,CDH23 | c.3954C>A (p.Tyr1318Ter) c.3951C>A (p.Tyr1317Ter) c.3969C>A (p.Tyr1323Ter) c.-6+5503G>T (n.-6+5503G>T) n.646C>A c.4149C>A (p.Tyr1383Ter) c.4083C>A (p.Tyr1361Ter) c.4143C>A (p.Tyr1381Ter) c.4089C>A (p.Tyr1363Ter) c.4014C>A (p.Tyr1338Ter) c.3609C>A (p.Tyr1203Ter) c.2967C>A (p.Tyr989Ter) c.477C>A (p.Tyr159Ter) n.4392C>A | dbSNP gnomAD v4 |
10 | g.71732225C= | CA1918849727 | C10orf105,CDH23 | c.3954C= (p.Tyr1318=) c.3951C= (p.Tyr1317=) c.3969C= (p.Tyr1323=) c.-6+5503G= (n.-6+5503G=) n.646C= c.4149C= (p.Tyr1383=) c.4083C= (p.Tyr1361=) c.4143C= (p.Tyr1381=) c.4089C= (p.Tyr1363=) c.4014C= (p.Tyr1338=) c.3609C= (p.Tyr1203=) c.2967C= (p.Tyr989=) c.477C= (p.Tyr159=) n.4392C= | |
10 | g.71732225C>G | CA377156610 | C10orf105,CDH23 | c.3954C>G (p.Tyr1318Ter) c.3951C>G (p.Tyr1317Ter) c.3969C>G (p.Tyr1323Ter) c.-6+5503G>C (n.-6+5503G>C) n.646C>G c.4149C>G (p.Tyr1383Ter) c.4083C>G (p.Tyr1361Ter) c.4143C>G (p.Tyr1381Ter) c.4089C>G (p.Tyr1363Ter) c.4014C>G (p.Tyr1338Ter) c.3609C>G (p.Tyr1203Ter) c.2967C>G (p.Tyr989Ter) c.477C>G (p.Tyr159Ter) n.4392C>G | gnomAD v4 |
10 | g.71732225C>T | CA5544876 | C10orf105,CDH23 | c.3954C>T (p.Tyr1318=) c.3951C>T (p.Tyr1317=) c.3969C>T (p.Tyr1323=) c.-6+5503G>A (n.-6+5503G>A) n.646C>T c.4149C>T (p.Tyr1383=) c.4083C>T (p.Tyr1361=) c.4143C>T (p.Tyr1381=) c.4089C>T (p.Tyr1363=) c.4014C>T (p.Tyr1338=) c.3609C>T (p.Tyr1203=) c.2967C>T (p.Tyr989=) c.477C>T (p.Tyr159=) n.4392C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71732226G>A | CA5544877 | C10orf105,CDH23 | c.3955G>A (p.Glu1319Lys) c.3952G>A (p.Glu1318Lys) c.3970G>A (p.Glu1324Lys) c.-6+5502C>T (n.-6+5502C>T) n.647G>A c.4150G>A (p.Glu1384Lys) c.4084G>A (p.Glu1362Lys) c.4144G>A (p.Glu1382Lys) c.4090G>A (p.Glu1364Lys) c.4015G>A (p.Glu1339Lys) c.3610G>A (p.Glu1204Lys) c.2968G>A (p.Glu990Lys) c.478G>A (p.Glu160Lys) n.4393G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.71732226G>C | CA377156612 | C10orf105,CDH23 | c.3955G>C (p.Glu1319Gln) c.3952G>C (p.Glu1318Gln) c.3970G>C (p.Glu1324Gln) c.-6+5502C>G (n.-6+5502C>G) n.647G>C c.4150G>C (p.Glu1384Gln) c.4084G>C (p.Glu1362Gln) c.4144G>C (p.Glu1382Gln) c.4090G>C (p.Glu1364Gln) c.4015G>C (p.Glu1339Gln) c.3610G>C (p.Glu1204Gln) c.2968G>C (p.Glu990Gln) c.478G>C (p.Glu160Gln) n.4393G>C | dbSNP gnomAD v4 |
10 | g.71732226G= | CA1918849728 | C10orf105,CDH23 | c.3955G= (p.Glu1319=) c.3952G= (p.Glu1318=) c.3970G= (p.Glu1324=) c.-6+5502C= (n.-6+5502C=) n.647G= c.4150G= (p.Glu1384=) c.4084G= (p.Glu1362=) c.4144G= (p.Glu1382=) c.4090G= (p.Glu1364=) c.4015G= (p.Glu1339=) c.3610G= (p.Glu1204=) c.2968G= (p.Glu990=) c.478G= (p.Glu160=) n.4393G= | |
10 | g.71732226G>T | CA377156611 | C10orf105,CDH23 | c.3955G>T (p.Glu1319Ter) c.3952G>T (p.Glu1318Ter) c.3970G>T (p.Glu1324Ter) c.-6+5502C>A (n.-6+5502C>A) n.647G>T c.4150G>T (p.Glu1384Ter) c.4084G>T (p.Glu1362Ter) c.4144G>T (p.Glu1382Ter) c.4090G>T (p.Glu1364Ter) c.4015G>T (p.Glu1339Ter) c.3610G>T (p.Glu1204Ter) c.2968G>T (p.Glu990Ter) c.478G>T (p.Glu160Ter) n.4393G>T | |
10 | g.71732227A>C | CA377156613 | C10orf105,CDH23 | c.3956A>C (p.Glu1319Ala) c.3953A>C (p.Glu1318Ala) c.3971A>C (p.Glu1324Ala) c.-6+5501T>G (n.-6+5501T>G) n.648A>C c.4151A>C (p.Glu1384Ala) c.4085A>C (p.Glu1362Ala) c.4145A>C (p.Glu1382Ala) c.4091A>C (p.Glu1364Ala) c.4016A>C (p.Glu1339Ala) c.3611A>C (p.Glu1204Ala) c.2969A>C (p.Glu990Ala) c.479A>C (p.Glu160Ala) n.4394A>C | |
10 | g.71732227A>G | CA377156614 | C10orf105,CDH23 | c.3956A>G (p.Glu1319Gly) c.3953A>G (p.Glu1318Gly) c.3971A>G (p.Glu1324Gly) c.-6+5501T>C (n.-6+5501T>C) n.648A>G c.4151A>G (p.Glu1384Gly) c.4085A>G (p.Glu1362Gly) c.4145A>G (p.Glu1382Gly) c.4091A>G (p.Glu1364Gly) c.4016A>G (p.Glu1339Gly) c.3611A>G (p.Glu1204Gly) c.2969A>G (p.Glu990Gly) c.479A>G (p.Glu160Gly) n.4394A>G | gnomAD v4 |
10 | g.71732227A>T | CA377156615 | C10orf105,CDH23 | c.3956A>T (p.Glu1319Val) c.3953A>T (p.Glu1318Val) c.3971A>T (p.Glu1324Val) c.-6+5501T>A (n.-6+5501T>A) n.648A>T c.4151A>T (p.Glu1384Val) c.4085A>T (p.Glu1362Val) c.4145A>T (p.Glu1382Val) c.4091A>T (p.Glu1364Val) c.4016A>T (p.Glu1339Val) c.3611A>T (p.Glu1204Val) c.2969A>T (p.Glu990Val) c.479A>T (p.Glu160Val) n.4394A>T | |
10 | g.71732228G>A | CA470284106 | C10orf105,CDH23 | c.3957G>A (p.Glu1319=) c.3954G>A (p.Glu1318=) c.3972G>A (p.Glu1324=) c.-6+5500C>T (n.-6+5500C>T) n.649G>A c.4152G>A (p.Glu1384=) c.4086G>A (p.Glu1362=) c.4146G>A (p.Glu1382=) c.4092G>A (p.Glu1364=) c.4017G>A (p.Glu1339=) c.3612G>A (p.Glu1204=) c.2970G>A (p.Glu990=) c.480G>A (p.Glu160=) n.4395G>A | |
10 | g.71732228G>C | CA377156616 | C10orf105,CDH23 | c.3957G>C (p.Glu1319Asp) c.3954G>C (p.Glu1318Asp) c.3972G>C (p.Glu1324Asp) c.-6+5500C>G (n.-6+5500C>G) n.649G>C c.4152G>C (p.Glu1384Asp) c.4086G>C (p.Glu1362Asp) c.4146G>C (p.Glu1382Asp) c.4092G>C (p.Glu1364Asp) c.4017G>C (p.Glu1339Asp) c.3612G>C (p.Glu1204Asp) c.2970G>C (p.Glu990Asp) c.480G>C (p.Glu160Asp) n.4395G>C | |
10 | g.71732228G= | CA1918849729 | C10orf105,CDH23 | c.3957G= (p.Glu1319=) c.3954G= (p.Glu1318=) c.3972G= (p.Glu1324=) c.-6+5500C= (n.-6+5500C=) n.649G= c.4152G= (p.Glu1384=) c.4086G= (p.Glu1362=) c.4146G= (p.Glu1382=) c.4092G= (p.Glu1364=) c.4017G= (p.Glu1339=) c.3612G= (p.Glu1204=) c.2970G= (p.Glu990=) c.480G= (p.Glu160=) n.4395G= | |
10 | g.71732228G>T | CA377156617 | C10orf105,CDH23 | c.3957G>T (p.Glu1319Asp) c.3954G>T (p.Glu1318Asp) c.3972G>T (p.Glu1324Asp) c.-6+5500C>A (n.-6+5500C>A) n.649G>T c.4152G>T (p.Glu1384Asp) c.4086G>T (p.Glu1362Asp) c.4146G>T (p.Glu1382Asp) c.4092G>T (p.Glu1364Asp) c.4017G>T (p.Glu1339Asp) c.3612G>T (p.Glu1204Asp) c.2970G>T (p.Glu990Asp) c.480G>T (p.Glu160Asp) n.4395G>T | dbSNP |
10 | g.71732229G>A | CA377156618 | C10orf105,CDH23 | c.3958G>A (p.Ala1320Thr) c.3955G>A (p.Ala1319Thr) c.3973G>A (p.Ala1325Thr) c.-6+5499C>T (n.-6+5499C>T) n.650G>A c.4153G>A (p.Ala1385Thr) c.4087G>A (p.Ala1363Thr) c.4147G>A (p.Ala1383Thr) c.4093G>A (p.Ala1365Thr) c.4018G>A (p.Ala1340Thr) c.3613G>A (p.Ala1205Thr) c.2971G>A (p.Ala991Thr) c.481G>A (p.Ala161Thr) n.4396G>A | dbSNP |
10 | g.71732229G>C | CA377156619 | C10orf105,CDH23 | c.3958G>C (p.Ala1320Pro) c.3955G>C (p.Ala1319Pro) c.3973G>C (p.Ala1325Pro) c.-6+5499C>G (n.-6+5499C>G) n.650G>C c.4153G>C (p.Ala1385Pro) c.4087G>C (p.Ala1363Pro) c.4147G>C (p.Ala1383Pro) c.4093G>C (p.Ala1365Pro) c.4018G>C (p.Ala1340Pro) c.3613G>C (p.Ala1205Pro) c.2971G>C (p.Ala991Pro) c.481G>C (p.Ala161Pro) n.4396G>C | dbSNP |
10 | g.71732229G>T | CA377156620 | C10orf105,CDH23 | c.3958G>T (p.Ala1320Ser) c.3955G>T (p.Ala1319Ser) c.3973G>T (p.Ala1325Ser) c.-6+5499C>A (n.-6+5499C>A) n.650G>T c.4153G>T (p.Ala1385Ser) c.4087G>T (p.Ala1363Ser) c.4147G>T (p.Ala1383Ser) c.4093G>T (p.Ala1365Ser) c.4018G>T (p.Ala1340Ser) c.3613G>T (p.Ala1205Ser) c.2971G>T (p.Ala991Ser) c.481G>T (p.Ala161Ser) n.4396G>T | |
10 | g.71732230C>A | CA377156621 | C10orf105,CDH23 | c.3959C>A (p.Ala1320Asp) c.3956C>A (p.Ala1319Asp) c.3974C>A (p.Ala1325Asp) c.-6+5498G>T (n.-6+5498G>T) n.651C>A c.4154C>A (p.Ala1385Asp) c.4088C>A (p.Ala1363Asp) c.4148C>A (p.Ala1383Asp) c.4094C>A (p.Ala1365Asp) c.4019C>A (p.Ala1340Asp) c.3614C>A (p.Ala1205Asp) c.2972C>A (p.Ala991Asp) c.482C>A (p.Ala161Asp) n.4397C>A | dbSNP |
10 | g.71732230C>G | CA377156622 | C10orf105,CDH23 | c.3959C>G (p.Ala1320Gly) c.3956C>G (p.Ala1319Gly) c.3974C>G (p.Ala1325Gly) c.-6+5498G>C (n.-6+5498G>C) n.651C>G c.4154C>G (p.Ala1385Gly) c.4088C>G (p.Ala1363Gly) c.4148C>G (p.Ala1383Gly) c.4094C>G (p.Ala1365Gly) c.4019C>G (p.Ala1340Gly) c.3614C>G (p.Ala1205Gly) c.2972C>G (p.Ala991Gly) c.482C>G (p.Ala161Gly) n.4397C>G | |
10 | g.71732230C>T | CA377156623 | C10orf105,CDH23 | c.3959C>T (p.Ala1320Val) c.3956C>T (p.Ala1319Val) c.3974C>T (p.Ala1325Val) c.-6+5498G>A (n.-6+5498G>A) n.651C>T c.4154C>T (p.Ala1385Val) c.4088C>T (p.Ala1363Val) c.4148C>T (p.Ala1383Val) c.4094C>T (p.Ala1365Val) c.4019C>T (p.Ala1340Val) c.3614C>T (p.Ala1205Val) c.2972C>T (p.Ala991Val) c.482C>T (p.Ala161Val) n.4397C>T | dbSNP gnomAD v4 |
10 | g.71732231T>A | CA470284114 | C10orf105,CDH23 | c.3960T>A (p.Ala1320=) c.3957T>A (p.Ala1319=) c.3975T>A (p.Ala1325=) c.-6+5497A>T (n.-6+5497A>T) n.652T>A c.4155T>A (p.Ala1385=) c.4089T>A (p.Ala1363=) c.4149T>A (p.Ala1383=) c.4095T>A (p.Ala1365=) c.4020T>A (p.Ala1340=) c.3615T>A (p.Ala1205=) c.2973T>A (p.Ala991=) c.483T>A (p.Ala161=) n.4398T>A | |
10 | g.71732231T>C | CA470284115 | C10orf105,CDH23 | c.3960T>C (p.Ala1320=) c.3957T>C (p.Ala1319=) c.3975T>C (p.Ala1325=) c.-6+5497A>G (n.-6+5497A>G) n.652T>C c.4155T>C (p.Ala1385=) c.4089T>C (p.Ala1363=) c.4149T>C (p.Ala1383=) c.4095T>C (p.Ala1365=) c.4020T>C (p.Ala1340=) c.3615T>C (p.Ala1205=) c.2973T>C (p.Ala991=) c.483T>C (p.Ala161=) n.4398T>C | |
10 | g.71732231T>G | CA470284118 | C10orf105,CDH23 | c.3960T>G (p.Ala1320=) c.3957T>G (p.Ala1319=) c.3975T>G (p.Ala1325=) c.-6+5497A>C (n.-6+5497A>C) n.652T>G c.4155T>G (p.Ala1385=) c.4089T>G (p.Ala1363=) c.4149T>G (p.Ala1383=) c.4095T>G (p.Ala1365=) c.4020T>G (p.Ala1340=) c.3615T>G (p.Ala1205=) c.2973T>G (p.Ala991=) c.483T>G (p.Ala161=) n.4398T>G | |
10 | g.71732232G>A | CA377156625 | C10orf105,CDH23 | c.3961G>A (p.Ala1321Thr) c.3958G>A (p.Ala1320Thr) c.3976G>A (p.Ala1326Thr) c.-6+5496C>T (n.-6+5496C>T) n.653G>A c.4156G>A (p.Ala1386Thr) c.4090G>A (p.Ala1364Thr) c.4150G>A (p.Ala1384Thr) c.4096G>A (p.Ala1366Thr) c.4021G>A (p.Ala1341Thr) c.3616G>A (p.Ala1206Thr) c.2974G>A (p.Ala992Thr) c.484G>A (p.Ala162Thr) n.4399G>A | dbSNP gnomAD v4 COSMIC |
10 | g.71732232G>C | CA377156626 | C10orf105,CDH23 | c.3961G>C (p.Ala1321Pro) c.3958G>C (p.Ala1320Pro) c.3976G>C (p.Ala1326Pro) c.-6+5496C>G (n.-6+5496C>G) n.653G>C c.4156G>C (p.Ala1386Pro) c.4090G>C (p.Ala1364Pro) c.4150G>C (p.Ala1384Pro) c.4096G>C (p.Ala1366Pro) c.4021G>C (p.Ala1341Pro) c.3616G>C (p.Ala1206Pro) c.2974G>C (p.Ala992Pro) c.484G>C (p.Ala162Pro) n.4399G>C | |
10 | g.71732232G>T | CA377156624 | C10orf105,CDH23 | c.3961G>T (p.Ala1321Ser) c.3958G>T (p.Ala1320Ser) c.3976G>T (p.Ala1326Ser) c.-6+5496C>A (n.-6+5496C>A) n.653G>T c.4156G>T (p.Ala1386Ser) c.4090G>T (p.Ala1364Ser) c.4150G>T (p.Ala1384Ser) c.4096G>T (p.Ala1366Ser) c.4021G>T (p.Ala1341Ser) c.3616G>T (p.Ala1206Ser) c.2974G>T (p.Ala992Ser) c.484G>T (p.Ala162Ser) n.4399G>T | |
10 | g.71732233C>A | CA377156627 | C10orf105,CDH23 | c.3962C>A (p.Ala1321Asp) c.3959C>A (p.Ala1320Asp) c.3977C>A (p.Ala1326Asp) c.-6+5495G>T (n.-6+5495G>T) n.654C>A c.4157C>A (p.Ala1386Asp) c.4091C>A (p.Ala1364Asp) c.4151C>A (p.Ala1384Asp) c.4097C>A (p.Ala1366Asp) c.4022C>A (p.Ala1341Asp) c.3617C>A (p.Ala1206Asp) c.2975C>A (p.Ala992Asp) c.485C>A (p.Ala162Asp) n.4400C>A | |
10 | g.71732233C>G | CA377156628 | C10orf105,CDH23 | c.3962C>G (p.Ala1321Gly) c.3959C>G (p.Ala1320Gly) c.3977C>G (p.Ala1326Gly) c.-6+5495G>C (n.-6+5495G>C) n.654C>G c.4157C>G (p.Ala1386Gly) c.4091C>G (p.Ala1364Gly) c.4151C>G (p.Ala1384Gly) c.4097C>G (p.Ala1366Gly) c.4022C>G (p.Ala1341Gly) c.3617C>G (p.Ala1206Gly) c.2975C>G (p.Ala992Gly) c.485C>G (p.Ala162Gly) n.4400C>G | |
10 | g.71732233C>T | CA377156629 | C10orf105,CDH23 | c.3962C>T (p.Ala1321Val) c.3959C>T (p.Ala1320Val) c.3977C>T (p.Ala1326Val) c.-6+5495G>A (n.-6+5495G>A) n.654C>T c.4157C>T (p.Ala1386Val) c.4091C>T (p.Ala1364Val) c.4151C>T (p.Ala1384Val) c.4097C>T (p.Ala1366Val) c.4022C>T (p.Ala1341Val) c.3617C>T (p.Ala1206Val) c.2975C>T (p.Ala992Val) c.485C>T (p.Ala162Val) n.4400C>T | dbSNP COSMIC |
10 | g.71732234C>A | CA470284123 | C10orf105,CDH23 | c.3963C>A (p.Ala1321=) c.3960C>A (p.Ala1320=) c.3978C>A (p.Ala1326=) c.-6+5494G>T (n.-6+5494G>T) n.655C>A c.4158C>A (p.Ala1386=) c.4092C>A (p.Ala1364=) c.4152C>A (p.Ala1384=) c.4098C>A (p.Ala1366=) c.4023C>A (p.Ala1341=) c.3618C>A (p.Ala1206=) c.2976C>A (p.Ala992=) c.486C>A (p.Ala162=) n.4401C>A | |
10 | g.71732234C>G | CA470284124 | C10orf105,CDH23 | c.3963C>G (p.Ala1321=) c.3960C>G (p.Ala1320=) c.3978C>G (p.Ala1326=) c.-6+5494G>C (n.-6+5494G>C) n.655C>G c.4158C>G (p.Ala1386=) c.4092C>G (p.Ala1364=) c.4152C>G (p.Ala1384=) c.4098C>G (p.Ala1366=) c.4023C>G (p.Ala1341=) c.3618C>G (p.Ala1206=) c.2976C>G (p.Ala992=) c.486C>G (p.Ala162=) n.4401C>G | |
10 | g.71732234C>T | CA470284125 | C10orf105,CDH23 | c.3963C>T (p.Ala1321=) c.3960C>T (p.Ala1320=) c.3978C>T (p.Ala1326=) c.-6+5494G>A (n.-6+5494G>A) n.655C>T c.4158C>T (p.Ala1386=) c.4092C>T (p.Ala1364=) c.4152C>T (p.Ala1384=) c.4098C>T (p.Ala1366=) c.4023C>T (p.Ala1341=) c.3618C>T (p.Ala1206=) c.2976C>T (p.Ala992=) c.486C>T (p.Ala162=) n.4401C>T | |
10 | g.71732235A= | CA1918849730 | C10orf105,CDH23 | c.3964A= (p.Ile1322=) c.3961A= (p.Ile1321=) c.3979A= (p.Ile1327=) c.-6+5493T= (n.-6+5493T=) n.656A= c.4159A= (p.Ile1387=) c.4093A= (p.Ile1365=) c.4153A= (p.Ile1385=) c.4099A= (p.Ile1367=) c.4024A= (p.Ile1342=) c.3619A= (p.Ile1207=) c.2977A= (p.Ile993=) c.487A= (p.Ile163=) n.4402A= | |
10 | g.71732235A>C | CA377156630 | C10orf105,CDH23 | c.3964A>C (p.Ile1322Leu) c.3961A>C (p.Ile1321Leu) c.3979A>C (p.Ile1327Leu) c.-6+5493T>G (n.-6+5493T>G) n.656A>C c.4159A>C (p.Ile1387Leu) c.4093A>C (p.Ile1365Leu) c.4153A>C (p.Ile1385Leu) c.4099A>C (p.Ile1367Leu) c.4024A>C (p.Ile1342Leu) c.3619A>C (p.Ile1207Leu) c.2977A>C (p.Ile993Leu) c.487A>C (p.Ile163Leu) n.4402A>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732235A>G | CA377156631 | C10orf105,CDH23 | c.3964A>G (p.Ile1322Val) c.3961A>G (p.Ile1321Val) c.3979A>G (p.Ile1327Val) c.-6+5493T>C (n.-6+5493T>C) n.656A>G c.4159A>G (p.Ile1387Val) c.4093A>G (p.Ile1365Val) c.4153A>G (p.Ile1385Val) c.4099A>G (p.Ile1367Val) c.4024A>G (p.Ile1342Val) c.3619A>G (p.Ile1207Val) c.2977A>G (p.Ile993Val) c.487A>G (p.Ile163Val) n.4402A>G | ClinVar dbSNP gnomAD v4 |
10 | g.71732235A>T | CA377156632 | C10orf105,CDH23 | c.3964A>T (p.Ile1322Phe) c.3961A>T (p.Ile1321Phe) c.3979A>T (p.Ile1327Phe) c.-6+5493T>A (n.-6+5493T>A) n.656A>T c.4159A>T (p.Ile1387Phe) c.4093A>T (p.Ile1365Phe) c.4153A>T (p.Ile1385Phe) c.4099A>T (p.Ile1367Phe) c.4024A>T (p.Ile1342Phe) c.3619A>T (p.Ile1207Phe) c.2977A>T (p.Ile993Phe) c.487A>T (p.Ile163Phe) n.4402A>T | |
10 | g.71732236T>A | CA377156633 | C10orf105,CDH23 | c.3965T>A (p.Ile1322Asn) c.3962T>A (p.Ile1321Asn) c.3980T>A (p.Ile1327Asn) c.-6+5492A>T (n.-6+5492A>T) n.657T>A c.4160T>A (p.Ile1387Asn) c.4094T>A (p.Ile1365Asn) c.4154T>A (p.Ile1385Asn) c.4100T>A (p.Ile1367Asn) c.4025T>A (p.Ile1342Asn) c.3620T>A (p.Ile1207Asn) c.2978T>A (p.Ile993Asn) c.488T>A (p.Ile163Asn) n.4403T>A | gnomAD v4 |
10 | g.71732236T>C | CA377156634 | C10orf105,CDH23 | c.3965T>C (p.Ile1322Thr) c.3962T>C (p.Ile1321Thr) c.3980T>C (p.Ile1327Thr) c.-6+5492A>G (n.-6+5492A>G) n.657T>C c.4160T>C (p.Ile1387Thr) c.4094T>C (p.Ile1365Thr) c.4154T>C (p.Ile1385Thr) c.4100T>C (p.Ile1367Thr) c.4025T>C (p.Ile1342Thr) c.3620T>C (p.Ile1207Thr) c.2978T>C (p.Ile993Thr) c.488T>C (p.Ile163Thr) n.4403T>C | |
10 | g.71732236T>G | CA377156635 | C10orf105,CDH23 | c.3965T>G (p.Ile1322Ser) c.3962T>G (p.Ile1321Ser) c.3980T>G (p.Ile1327Ser) c.-6+5492A>C (n.-6+5492A>C) n.657T>G c.4160T>G (p.Ile1387Ser) c.4094T>G (p.Ile1365Ser) c.4154T>G (p.Ile1385Ser) c.4100T>G (p.Ile1367Ser) c.4025T>G (p.Ile1342Ser) c.3620T>G (p.Ile1207Ser) c.2978T>G (p.Ile993Ser) c.488T>G (p.Ile163Ser) n.4403T>G | |
10 | g.71732237C>A | CA470284139 | C10orf105,CDH23 | c.3966C>A (p.Ile1322=) c.3963C>A (p.Ile1321=) c.3981C>A (p.Ile1327=) c.-6+5491G>T (n.-6+5491G>T) n.658C>A c.4161C>A (p.Ile1387=) c.4095C>A (p.Ile1365=) c.4155C>A (p.Ile1385=) c.4101C>A (p.Ile1367=) c.4026C>A (p.Ile1342=) c.3621C>A (p.Ile1207=) c.2979C>A (p.Ile993=) c.489C>A (p.Ile163=) n.4404C>A | |
10 | g.71732237C>G | CA377156636 | C10orf105,CDH23 | c.3966C>G (p.Ile1322Met) c.3963C>G (p.Ile1321Met) c.3981C>G (p.Ile1327Met) c.-6+5491G>C (n.-6+5491G>C) n.658C>G c.4161C>G (p.Ile1387Met) c.4095C>G (p.Ile1365Met) c.4155C>G (p.Ile1385Met) c.4101C>G (p.Ile1367Met) c.4026C>G (p.Ile1342Met) c.3621C>G (p.Ile1207Met) c.2979C>G (p.Ile993Met) c.489C>G (p.Ile163Met) n.4404C>G | dbSNP |
10 | g.71732237C>T | CA470284142 | C10orf105,CDH23 | c.3966C>T (p.Ile1322=) c.3963C>T (p.Ile1321=) c.3981C>T (p.Ile1327=) c.-6+5491G>A (n.-6+5491G>A) n.658C>T c.4161C>T (p.Ile1387=) c.4095C>T (p.Ile1365=) c.4155C>T (p.Ile1385=) c.4101C>T (p.Ile1367=) c.4026C>T (p.Ile1342=) c.3621C>T (p.Ile1207=) c.2979C>T (p.Ile993=) c.489C>T (p.Ile163=) n.4404C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71732238C>A | CA377156637 | C10orf105,CDH23 | c.3967C>A (p.Leu1323Met) c.3964C>A (p.Leu1322Met) c.3982C>A (p.Leu1328Met) c.-6+5490G>T (n.-6+5490G>T) n.659C>A c.4162C>A (p.Leu1388Met) c.4096C>A (p.Leu1366Met) c.4156C>A (p.Leu1386Met) c.4102C>A (p.Leu1368Met) c.4027C>A (p.Leu1343Met) c.3622C>A (p.Leu1208Met) c.2980C>A (p.Leu994Met) c.490C>A (p.Leu164Met) n.4405C>A | |
10 | g.71732238C= | CA1918849731 | C10orf105,CDH23 | c.3967C= (p.Leu1323=) c.3964C= (p.Leu1322=) c.3982C= (p.Leu1328=) c.-6+5490G= (n.-6+5490G=) n.659C= c.4162C= (p.Leu1388=) c.4096C= (p.Leu1366=) c.4156C= (p.Leu1386=) c.4102C= (p.Leu1368=) c.4027C= (p.Leu1343=) c.3622C= (p.Leu1208=) c.2980C= (p.Leu994=) c.490C= (p.Leu164=) n.4405C= | |
10 | g.71732238C>G | CA377156638 | C10orf105,CDH23 | c.3967C>G (p.Leu1323Val) c.3964C>G (p.Leu1322Val) c.3982C>G (p.Leu1328Val) c.-6+5490G>C (n.-6+5490G>C) n.659C>G c.4162C>G (p.Leu1388Val) c.4096C>G (p.Leu1366Val) c.4156C>G (p.Leu1386Val) c.4102C>G (p.Leu1368Val) c.4027C>G (p.Leu1343Val) c.3622C>G (p.Leu1208Val) c.2980C>G (p.Leu994Val) c.490C>G (p.Leu164Val) n.4405C>G | |
10 | g.71732238C>T | CA470284148 | C10orf105,CDH23 | c.3967C>T (p.Leu1323=) c.3964C>T (p.Leu1322=) c.3982C>T (p.Leu1328=) c.-6+5490G>A (n.-6+5490G>A) n.659C>T c.4162C>T (p.Leu1388=) c.4096C>T (p.Leu1366=) c.4156C>T (p.Leu1386=) c.4102C>T (p.Leu1368=) c.4027C>T (p.Leu1343=) c.3622C>T (p.Leu1208=) c.2980C>T (p.Leu994=) c.490C>T (p.Leu164=) n.4405C>T | ClinVar dbSNP |
10 | g.71732239T>A | CA377156641 | C10orf105,CDH23 | c.3968T>A (p.Leu1323Gln) c.3965T>A (p.Leu1322Gln) c.3983T>A (p.Leu1328Gln) c.-6+5489A>T (n.-6+5489A>T) n.660T>A c.4163T>A (p.Leu1388Gln) c.4097T>A (p.Leu1366Gln) c.4157T>A (p.Leu1386Gln) c.4103T>A (p.Leu1368Gln) c.4028T>A (p.Leu1343Gln) c.3623T>A (p.Leu1208Gln) c.2981T>A (p.Leu994Gln) c.491T>A (p.Leu164Gln) n.4406T>A | |
10 | g.71732239T>C | CA377156639 | C10orf105,CDH23 | c.3968T>C (p.Leu1323Pro) c.3965T>C (p.Leu1322Pro) c.3983T>C (p.Leu1328Pro) c.-6+5489A>G (n.-6+5489A>G) n.660T>C c.4163T>C (p.Leu1388Pro) c.4097T>C (p.Leu1366Pro) c.4157T>C (p.Leu1386Pro) c.4103T>C (p.Leu1368Pro) c.4028T>C (p.Leu1343Pro) c.3623T>C (p.Leu1208Pro) c.2981T>C (p.Leu994Pro) c.491T>C (p.Leu164Pro) n.4406T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71732239T>G | CA377156640 | C10orf105,CDH23 | c.3968T>G (p.Leu1323Arg) c.3965T>G (p.Leu1322Arg) c.3983T>G (p.Leu1328Arg) c.-6+5489A>C (n.-6+5489A>C) n.660T>G c.4163T>G (p.Leu1388Arg) c.4097T>G (p.Leu1366Arg) c.4157T>G (p.Leu1386Arg) c.4103T>G (p.Leu1368Arg) c.4028T>G (p.Leu1343Arg) c.3623T>G (p.Leu1208Arg) c.2981T>G (p.Leu994Arg) c.491T>G (p.Leu164Arg) n.4406T>G | |
10 | g.71732239T= | CA1918849732 | C10orf105,CDH23 | c.3968T= (p.Leu1323=) c.3965T= (p.Leu1322=) c.3983T= (p.Leu1328=) c.-6+5489A= (n.-6+5489A=) n.660T= c.4163T= (p.Leu1388=) c.4097T= (p.Leu1366=) c.4157T= (p.Leu1386=) c.4103T= (p.Leu1368=) c.4028T= (p.Leu1343=) c.3623T= (p.Leu1208=) c.2981T= (p.Leu994=) c.491T= (p.Leu164=) n.4406T= | |
10 | g.71732240G>A | CA470284152 | C10orf105,CDH23 | c.3969G>A (p.Leu1323=) c.3966G>A (p.Leu1322=) c.3984G>A (p.Leu1328=) c.-6+5488C>T (n.-6+5488C>T) n.661G>A c.4164G>A (p.Leu1388=) c.4098G>A (p.Leu1366=) c.4158G>A (p.Leu1386=) c.4104G>A (p.Leu1368=) c.4029G>A (p.Leu1343=) c.3624G>A (p.Leu1208=) c.2982G>A (p.Leu994=) c.492G>A (p.Leu164=) n.4407G>A | gnomAD v4 |
10 | g.71732240G>C | CA470284153 | C10orf105,CDH23 | c.3969G>C (p.Leu1323=) c.3966G>C (p.Leu1322=) c.3984G>C (p.Leu1328=) c.-6+5488C>G (n.-6+5488C>G) n.661G>C c.4164G>C (p.Leu1388=) c.4098G>C (p.Leu1366=) c.4158G>C (p.Leu1386=) c.4104G>C (p.Leu1368=) c.4029G>C (p.Leu1343=) c.3624G>C (p.Leu1208=) c.2982G>C (p.Leu994=) c.492G>C (p.Leu164=) n.4407G>C | |
10 | g.71732240G>T | CA470284154 | C10orf105,CDH23 | c.3969G>T (p.Leu1323=) c.3966G>T (p.Leu1322=) c.3984G>T (p.Leu1328=) c.-6+5488C>A (n.-6+5488C>A) n.661G>T c.4164G>T (p.Leu1388=) c.4098G>T (p.Leu1366=) c.4158G>T (p.Leu1386=) c.4104G>T (p.Leu1368=) c.4029G>T (p.Leu1343=) c.3624G>T (p.Leu1208=) c.2982G>T (p.Leu994=) c.492G>T (p.Leu164=) n.4407G>T | |
10 | g.71732241dup | CA594705730 | C10orf105,CDH23 | c.3970dup (p.Glu1324GlyfsTer8) c.3967dup (p.Glu1323GlyfsTer8) c.3985dup (p.Glu1329GlyfsTer8) c.-6+5488dup (n.-6+5488dup) n.662dup c.4165dup (p.Glu1389GlyfsTer8) c.4099dup (p.Glu1367GlyfsTer8) c.4159dup (p.Glu1387GlyfsTer8) c.4105dup (p.Glu1369GlyfsTer8) c.4030dup (p.Glu1344GlyfsTer8) c.3625dup (p.Glu1209GlyfsTer8) c.2983dup (p.Glu995GlyfsTer8) c.493dup (p.Glu165GlyfsTer8) n.4408dup | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71732241G>A | CA377156642 | C10orf105,CDH23 | c.3970G>A (p.Glu1324Lys) c.3967G>A (p.Glu1323Lys) c.3985G>A (p.Glu1329Lys) c.-6+5487C>T (n.-6+5487C>T) n.662G>A c.4165G>A (p.Glu1389Lys) c.4099G>A (p.Glu1367Lys) c.4159G>A (p.Glu1387Lys) c.4105G>A (p.Glu1369Lys) c.4030G>A (p.Glu1344Lys) c.3625G>A (p.Glu1209Lys) c.2983G>A (p.Glu995Lys) c.493G>A (p.Glu165Lys) n.4408G>A | |
10 | g.71732241G>C | CA377156643 | C10orf105,CDH23 | c.3970G>C (p.Glu1324Gln) c.3967G>C (p.Glu1323Gln) c.3985G>C (p.Glu1329Gln) c.-6+5487C>G (n.-6+5487C>G) n.662G>C c.4165G>C (p.Glu1389Gln) c.4099G>C (p.Glu1367Gln) c.4159G>C (p.Glu1387Gln) c.4105G>C (p.Glu1369Gln) c.4030G>C (p.Glu1344Gln) c.3625G>C (p.Glu1209Gln) c.2983G>C (p.Glu995Gln) c.493G>C (p.Glu165Gln) n.4408G>C | |
10 | g.71732241G>T | CA377156644 | C10orf105,CDH23 | c.3970G>T (p.Glu1324Ter) c.3967G>T (p.Glu1323Ter) c.3985G>T (p.Glu1329Ter) c.-6+5487C>A (n.-6+5487C>A) n.662G>T c.4165G>T (p.Glu1389Ter) c.4099G>T (p.Glu1367Ter) c.4159G>T (p.Glu1387Ter) c.4105G>T (p.Glu1369Ter) c.4030G>T (p.Glu1344Ter) c.3625G>T (p.Glu1209Ter) c.2983G>T (p.Glu995Ter) c.493G>T (p.Glu165Ter) n.4408G>T | |
10 | g.71732242A= | CA1918849733 | C10orf105,CDH23 | c.3971A= (p.Glu1324=) c.3968A= (p.Glu1323=) c.3986A= (p.Glu1329=) c.-6+5486T= (n.-6+5486T=) n.663A= c.4166A= (p.Glu1389=) c.4100A= (p.Glu1367=) c.4160A= (p.Glu1387=) c.4106A= (p.Glu1369=) c.4031A= (p.Glu1344=) c.3626A= (p.Glu1209=) c.2984A= (p.Glu995=) c.494A= (p.Glu165=) n.4409A= | |
10 | g.71732242A>C | CA377156645 | C10orf105,CDH23 | c.3971A>C (p.Glu1324Ala) c.3968A>C (p.Glu1323Ala) c.3986A>C (p.Glu1329Ala) c.-6+5486T>G (n.-6+5486T>G) n.663A>C c.4166A>C (p.Glu1389Ala) c.4100A>C (p.Glu1367Ala) c.4160A>C (p.Glu1387Ala) c.4106A>C (p.Glu1369Ala) c.4031A>C (p.Glu1344Ala) c.3626A>C (p.Glu1209Ala) c.2984A>C (p.Glu995Ala) c.494A>C (p.Glu165Ala) n.4409A>C | |
10 | g.71732242A>G | CA5544878 | C10orf105,CDH23 | c.3971A>G (p.Glu1324Gly) c.3968A>G (p.Glu1323Gly) c.3986A>G (p.Glu1329Gly) c.-6+5486T>C (n.-6+5486T>C) n.663A>G c.4166A>G (p.Glu1389Gly) c.4100A>G (p.Glu1367Gly) c.4160A>G (p.Glu1387Gly) c.4106A>G (p.Glu1369Gly) c.4031A>G (p.Glu1344Gly) c.3626A>G (p.Glu1209Gly) c.2984A>G (p.Glu995Gly) c.494A>G (p.Glu165Gly) n.4409A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732242A>T | CA377156646 | C10orf105,CDH23 | c.3971A>T (p.Glu1324Val) c.3968A>T (p.Glu1323Val) c.3986A>T (p.Glu1329Val) c.-6+5486T>A (n.-6+5486T>A) n.663A>T c.4166A>T (p.Glu1389Val) c.4100A>T (p.Glu1367Val) c.4160A>T (p.Glu1387Val) c.4106A>T (p.Glu1369Val) c.4031A>T (p.Glu1344Val) c.3626A>T (p.Glu1209Val) c.2984A>T (p.Glu995Val) c.494A>T (p.Glu165Val) n.4409A>T | |
10 | g.71732243G>A | CA470284157 | C10orf105,CDH23 | c.3972G>A (p.Glu1324=) c.3969G>A (p.Glu1323=) c.3987G>A (p.Glu1329=) c.-6+5485C>T (n.-6+5485C>T) n.664G>A c.4167G>A (p.Glu1389=) c.4101G>A (p.Glu1367=) c.4161G>A (p.Glu1387=) c.4107G>A (p.Glu1369=) c.4032G>A (p.Glu1344=) c.3627G>A (p.Glu1209=) c.2985G>A (p.Glu995=) c.495G>A (p.Glu165=) n.4410G>A | ClinVar dbSNP |
10 | g.71732243G>C | CA377156647 | C10orf105,CDH23 | c.3972G>C (p.Glu1324Asp) c.3969G>C (p.Glu1323Asp) c.3987G>C (p.Glu1329Asp) c.-6+5485C>G (n.-6+5485C>G) n.664G>C c.4167G>C (p.Glu1389Asp) c.4101G>C (p.Glu1367Asp) c.4161G>C (p.Glu1387Asp) c.4107G>C (p.Glu1369Asp) c.4032G>C (p.Glu1344Asp) c.3627G>C (p.Glu1209Asp) c.2985G>C (p.Glu995Asp) c.495G>C (p.Glu165Asp) n.4410G>C | ClinVar dbSNP |
10 | g.71732243G= | CA1918849734 | C10orf105,CDH23 | c.3972G= (p.Glu1324=) c.3969G= (p.Glu1323=) c.3987G= (p.Glu1329=) c.-6+5485C= (n.-6+5485C=) n.664G= c.4167G= (p.Glu1389=) c.4101G= (p.Glu1367=) c.4161G= (p.Glu1387=) c.4107G= (p.Glu1369=) c.4032G= (p.Glu1344=) c.3627G= (p.Glu1209=) c.2985G= (p.Glu995=) c.495G= (p.Glu165=) n.4410G= | |
10 | g.71732243G>T | CA377156648 | C10orf105,CDH23 | c.3972G>T (p.Glu1324Asp) c.3969G>T (p.Glu1323Asp) c.3987G>T (p.Glu1329Asp) c.-6+5485C>A (n.-6+5485C>A) n.664G>T c.4167G>T (p.Glu1389Asp) c.4101G>T (p.Glu1367Asp) c.4161G>T (p.Glu1387Asp) c.4107G>T (p.Glu1369Asp) c.4032G>T (p.Glu1344Asp) c.3627G>T (p.Glu1209Asp) c.2985G>T (p.Glu995Asp) c.495G>T (p.Glu165Asp) n.4410G>T | |
10 | g.71732244A>C | CA377156649 | C10orf105,CDH23 | c.3973A>C (p.Asn1325His) c.3970A>C (p.Asn1324His) c.3988A>C (p.Asn1330His) c.-6+5484T>G (n.-6+5484T>G) n.665A>C c.4168A>C (p.Asn1390His) c.4102A>C (p.Asn1368His) c.4162A>C (p.Asn1388His) c.4108A>C (p.Asn1370His) c.4033A>C (p.Asn1345His) c.3628A>C (p.Asn1210His) c.2986A>C (p.Asn996His) c.496A>C (p.Asn166His) n.4411A>C | |
10 | g.71732244A>G | CA377156650 | C10orf105,CDH23 | c.3973A>G (p.Asn1325Asp) c.3970A>G (p.Asn1324Asp) c.3988A>G (p.Asn1330Asp) c.-6+5484T>C (n.-6+5484T>C) n.665A>G c.4168A>G (p.Asn1390Asp) c.4102A>G (p.Asn1368Asp) c.4162A>G (p.Asn1388Asp) c.4108A>G (p.Asn1370Asp) c.4033A>G (p.Asn1345Asp) c.3628A>G (p.Asn1210Asp) c.2986A>G (p.Asn996Asp) c.496A>G (p.Asn166Asp) n.4411A>G | |
10 | g.71732244A>T | CA377156651 | C10orf105,CDH23 | c.3973A>T (p.Asn1325Tyr) c.3970A>T (p.Asn1324Tyr) c.3988A>T (p.Asn1330Tyr) c.-6+5484T>A (n.-6+5484T>A) n.665A>T c.4168A>T (p.Asn1390Tyr) c.4102A>T (p.Asn1368Tyr) c.4162A>T (p.Asn1388Tyr) c.4108A>T (p.Asn1370Tyr) c.4033A>T (p.Asn1345Tyr) c.3628A>T (p.Asn1210Tyr) c.2986A>T (p.Asn996Tyr) c.496A>T (p.Asn166Tyr) n.4411A>T | |
10 | g.71732245A= | CA1918849735 | C10orf105,CDH23 | c.3974A= (p.Asn1325=) c.3971A= (p.Asn1324=) c.3989A= (p.Asn1330=) c.-6+5483T= (n.-6+5483T=) n.666A= c.4169A= (p.Asn1390=) c.4103A= (p.Asn1368=) c.4163A= (p.Asn1388=) c.4109A= (p.Asn1370=) c.4034A= (p.Asn1345=) c.3629A= (p.Asn1210=) c.2987A= (p.Asn996=) c.497A= (p.Asn166=) n.4412A= | |
10 | g.71732245A>C | CA5544879 | C10orf105,CDH23 | c.3974A>C (p.Asn1325Thr) c.3971A>C (p.Asn1324Thr) c.3989A>C (p.Asn1330Thr) c.-6+5483T>G (n.-6+5483T>G) n.666A>C c.4169A>C (p.Asn1390Thr) c.4103A>C (p.Asn1368Thr) c.4163A>C (p.Asn1388Thr) c.4109A>C (p.Asn1370Thr) c.4034A>C (p.Asn1345Thr) c.3629A>C (p.Asn1210Thr) c.2987A>C (p.Asn996Thr) c.497A>C (p.Asn166Thr) n.4412A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732245A>G | CA377156653 | C10orf105,CDH23 | c.3974A>G (p.Asn1325Ser) c.3971A>G (p.Asn1324Ser) c.3989A>G (p.Asn1330Ser) c.-6+5483T>C (n.-6+5483T>C) n.666A>G c.4169A>G (p.Asn1390Ser) c.4103A>G (p.Asn1368Ser) c.4163A>G (p.Asn1388Ser) c.4109A>G (p.Asn1370Ser) c.4034A>G (p.Asn1345Ser) c.3629A>G (p.Asn1210Ser) c.2987A>G (p.Asn996Ser) c.497A>G (p.Asn166Ser) n.4412A>G | |
10 | g.71732245A>T | CA377156652 | C10orf105,CDH23 | c.3974A>T (p.Asn1325Ile) c.3971A>T (p.Asn1324Ile) c.3989A>T (p.Asn1330Ile) c.-6+5483T>A (n.-6+5483T>A) n.666A>T c.4169A>T (p.Asn1390Ile) c.4103A>T (p.Asn1368Ile) c.4163A>T (p.Asn1388Ile) c.4109A>T (p.Asn1370Ile) c.4034A>T (p.Asn1345Ile) c.3629A>T (p.Asn1210Ile) c.2987A>T (p.Asn996Ile) c.497A>T (p.Asn166Ile) n.4412A>T | dbSNP |
10 | g.71732246T>A | CA377156654 | C10orf105,CDH23 | c.3975T>A (p.Asn1325Lys) c.3972T>A (p.Asn1324Lys) c.3990T>A (p.Asn1330Lys) c.-6+5482A>T (n.-6+5482A>T) n.667T>A c.4170T>A (p.Asn1390Lys) c.4104T>A (p.Asn1368Lys) c.4164T>A (p.Asn1388Lys) c.4110T>A (p.Asn1370Lys) c.4035T>A (p.Asn1345Lys) c.3630T>A (p.Asn1210Lys) c.2988T>A (p.Asn996Lys) c.498T>A (p.Asn166Lys) n.4413T>A | |
10 | g.71732246T>C | CA470284180 | C10orf105,CDH23 | c.3975T>C (p.Asn1325=) c.3972T>C (p.Asn1324=) c.3990T>C (p.Asn1330=) c.-6+5482A>G (n.-6+5482A>G) n.667T>C c.4170T>C (p.Asn1390=) c.4104T>C (p.Asn1368=) c.4164T>C (p.Asn1388=) c.4110T>C (p.Asn1370=) c.4035T>C (p.Asn1345=) c.3630T>C (p.Asn1210=) c.2988T>C (p.Asn996=) c.498T>C (p.Asn166=) n.4413T>C | |
10 | g.71732246T>G | CA377156655 | C10orf105,CDH23 | c.3975T>G (p.Asn1325Lys) c.3972T>G (p.Asn1324Lys) c.3990T>G (p.Asn1330Lys) c.-6+5482A>C (n.-6+5482A>C) n.667T>G c.4170T>G (p.Asn1390Lys) c.4104T>G (p.Asn1368Lys) c.4164T>G (p.Asn1388Lys) c.4110T>G (p.Asn1370Lys) c.4035T>G (p.Asn1345Lys) c.3630T>G (p.Asn1210Lys) c.2988T>G (p.Asn996Lys) c.498T>G (p.Asn166Lys) n.4413T>G | |
10 | g.71732247C>A | CA377156656 | C10orf105,CDH23 | c.3976C>A (p.Leu1326Met) c.3973C>A (p.Leu1325Met) c.3991C>A (p.Leu1331Met) c.-6+5481G>T (n.-6+5481G>T) n.668C>A c.4171C>A (p.Leu1391Met) c.4105C>A (p.Leu1369Met) c.4165C>A (p.Leu1389Met) c.4111C>A (p.Leu1371Met) c.4036C>A (p.Leu1346Met) c.3631C>A (p.Leu1211Met) c.2989C>A (p.Leu997Met) c.499C>A (p.Leu167Met) n.4414C>A | |
10 | g.71732247C>G | CA377156657 | C10orf105,CDH23 | c.3976C>G (p.Leu1326Val) c.3973C>G (p.Leu1325Val) c.3991C>G (p.Leu1331Val) c.-6+5481G>C (n.-6+5481G>C) n.668C>G c.4171C>G (p.Leu1391Val) c.4105C>G (p.Leu1369Val) c.4165C>G (p.Leu1389Val) c.4111C>G (p.Leu1371Val) c.4036C>G (p.Leu1346Val) c.3631C>G (p.Leu1211Val) c.2989C>G (p.Leu997Val) c.499C>G (p.Leu167Val) n.4414C>G | |
10 | g.71732247C>T | CA470284183 | C10orf105,CDH23 | c.3976C>T (p.Leu1326=) c.3973C>T (p.Leu1325=) c.3991C>T (p.Leu1331=) c.-6+5481G>A (n.-6+5481G>A) n.668C>T c.4171C>T (p.Leu1391=) c.4105C>T (p.Leu1369=) c.4165C>T (p.Leu1389=) c.4111C>T (p.Leu1371=) c.4036C>T (p.Leu1346=) c.3631C>T (p.Leu1211=) c.2989C>T (p.Leu997=) c.499C>T (p.Leu167=) n.4414C>T | |
10 | g.71732248T>A | CA377156658 | C10orf105,CDH23 | c.3977T>A (p.Leu1326Gln) c.3974T>A (p.Leu1325Gln) c.3992T>A (p.Leu1331Gln) c.-6+5480A>T (n.-6+5480A>T) n.669T>A c.4172T>A (p.Leu1391Gln) c.4106T>A (p.Leu1369Gln) c.4166T>A (p.Leu1389Gln) c.4112T>A (p.Leu1371Gln) c.4037T>A (p.Leu1346Gln) c.3632T>A (p.Leu1211Gln) c.2990T>A (p.Leu997Gln) c.500T>A (p.Leu167Gln) n.4415T>A | |
10 | g.71732248T>C | CA377156659 | C10orf105,CDH23 | c.3977T>C (p.Leu1326Pro) c.3974T>C (p.Leu1325Pro) c.3992T>C (p.Leu1331Pro) c.-6+5480A>G (n.-6+5480A>G) n.669T>C c.4172T>C (p.Leu1391Pro) c.4106T>C (p.Leu1369Pro) c.4166T>C (p.Leu1389Pro) c.4112T>C (p.Leu1371Pro) c.4037T>C (p.Leu1346Pro) c.3632T>C (p.Leu1211Pro) c.2990T>C (p.Leu997Pro) c.500T>C (p.Leu167Pro) n.4415T>C | |
10 | g.71732248T>G | CA377156660 | C10orf105,CDH23 | c.3977T>G (p.Leu1326Arg) c.3974T>G (p.Leu1325Arg) c.3992T>G (p.Leu1331Arg) c.-6+5480A>C (n.-6+5480A>C) n.669T>G c.4172T>G (p.Leu1391Arg) c.4106T>G (p.Leu1369Arg) c.4166T>G (p.Leu1389Arg) c.4112T>G (p.Leu1371Arg) c.4037T>G (p.Leu1346Arg) c.3632T>G (p.Leu1211Arg) c.2990T>G (p.Leu997Arg) c.500T>G (p.Leu167Arg) n.4415T>G | |
10 | g.71732249G>A | CA470283549 | C10orf105,CDH23 | c.3978G>A (p.Leu1326=) c.3975G>A (p.Leu1325=) c.3993G>A (p.Leu1331=) c.-6+5479C>T (n.-6+5479C>T) n.670G>A c.4173G>A (p.Leu1391=) c.4107G>A (p.Leu1369=) c.4167G>A (p.Leu1389=) c.4113G>A (p.Leu1371=) c.4038G>A (p.Leu1346=) c.3633G>A (p.Leu1211=) c.2991G>A (p.Leu997=) c.501G>A (p.Leu167=) n.4416G>A | |
10 | g.71732249G>C | CA470283550 | C10orf105,CDH23 | c.3978G>C (p.Leu1326=) c.3975G>C (p.Leu1325=) c.3993G>C (p.Leu1331=) c.-6+5479C>G (n.-6+5479C>G) n.670G>C c.4173G>C (p.Leu1391=) c.4107G>C (p.Leu1369=) c.4167G>C (p.Leu1389=) c.4113G>C (p.Leu1371=) c.4038G>C (p.Leu1346=) c.3633G>C (p.Leu1211=) c.2991G>C (p.Leu997=) c.501G>C (p.Leu167=) n.4416G>C | |
10 | g.71732249G>T | CA470283551 | C10orf105,CDH23 | c.3978G>T (p.Leu1326=) c.3975G>T (p.Leu1325=) c.3993G>T (p.Leu1331=) c.-6+5479C>A (n.-6+5479C>A) n.670G>T c.4173G>T (p.Leu1391=) c.4107G>T (p.Leu1369=) c.4167G>T (p.Leu1389=) c.4113G>T (p.Leu1371=) c.4038G>T (p.Leu1346=) c.3633G>T (p.Leu1211=) c.2991G>T (p.Leu997=) c.501G>T (p.Leu167=) n.4416G>T | |
10 | g.71732250G>A | CA5544880 | C10orf105,CDH23 | c.3979G>A (p.Ala1327Thr) c.3976G>A (p.Ala1326Thr) c.3994G>A (p.Ala1332Thr) c.-6+5478C>T (n.-6+5478C>T) n.671G>A c.4174G>A (p.Ala1392Thr) c.4108G>A (p.Ala1370Thr) c.4168G>A (p.Ala1390Thr) c.4114G>A (p.Ala1372Thr) c.4039G>A (p.Ala1347Thr) c.3634G>A (p.Ala1212Thr) c.2992G>A (p.Ala998Thr) c.502G>A (p.Ala168Thr) n.4417G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71732250G>C | CA377156661 | C10orf105,CDH23 | c.3979G>C (p.Ala1327Pro) c.3976G>C (p.Ala1326Pro) c.3994G>C (p.Ala1332Pro) c.-6+5478C>G (n.-6+5478C>G) n.671G>C c.4174G>C (p.Ala1392Pro) c.4108G>C (p.Ala1370Pro) c.4168G>C (p.Ala1390Pro) c.4114G>C (p.Ala1372Pro) c.4039G>C (p.Ala1347Pro) c.3634G>C (p.Ala1212Pro) c.2992G>C (p.Ala998Pro) c.502G>C (p.Ala168Pro) n.4417G>C | |
10 | g.71732250G= | CA1918849736 | C10orf105,CDH23 | c.3979G= (p.Ala1327=) c.3976G= (p.Ala1326=) c.3994G= (p.Ala1332=) c.-6+5478C= (n.-6+5478C=) n.671G= c.4174G= (p.Ala1392=) c.4108G= (p.Ala1370=) c.4168G= (p.Ala1390=) c.4114G= (p.Ala1372=) c.4039G= (p.Ala1347=) c.3634G= (p.Ala1212=) c.2992G= (p.Ala998=) c.502G= (p.Ala168=) n.4417G= | |
10 | g.71732250G>T | CA377156662 | C10orf105,CDH23 | c.3979G>T (p.Ala1327Ser) c.3976G>T (p.Ala1326Ser) c.3994G>T (p.Ala1332Ser) c.-6+5478C>A (n.-6+5478C>A) n.671G>T c.4174G>T (p.Ala1392Ser) c.4108G>T (p.Ala1370Ser) c.4168G>T (p.Ala1390Ser) c.4114G>T (p.Ala1372Ser) c.4039G>T (p.Ala1347Ser) c.3634G>T (p.Ala1212Ser) c.2992G>T (p.Ala998Ser) c.502G>T (p.Ala168Ser) n.4417G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71732251C>A | CA377156663 | C10orf105,CDH23 | c.3980C>A (p.Ala1327Glu) c.3977C>A (p.Ala1326Glu) c.3995C>A (p.Ala1332Glu) c.-6+5477G>T (n.-6+5477G>T) n.672C>A c.4175C>A (p.Ala1392Glu) c.4109C>A (p.Ala1370Glu) c.4169C>A (p.Ala1390Glu) c.4115C>A (p.Ala1372Glu) c.4040C>A (p.Ala1347Glu) c.3635C>A (p.Ala1212Glu) c.2993C>A (p.Ala998Glu) c.503C>A (p.Ala168Glu) n.4418C>A | |
10 | g.71732251C= | CA1918849737 | C10orf105,CDH23 | c.3980C= (p.Ala1327=) c.3977C= (p.Ala1326=) c.3995C= (p.Ala1332=) c.-6+5477G= (n.-6+5477G=) n.672C= c.4175C= (p.Ala1392=) c.4109C= (p.Ala1370=) c.4169C= (p.Ala1390=) c.4115C= (p.Ala1372=) c.4040C= (p.Ala1347=) c.3635C= (p.Ala1212=) c.2993C= (p.Ala998=) c.503C= (p.Ala168=) n.4418C= | |
10 | g.71732251C>G | CA377156664 | C10orf105,CDH23 | c.3980C>G (p.Ala1327Gly) c.3977C>G (p.Ala1326Gly) c.3995C>G (p.Ala1332Gly) c.-6+5477G>C (n.-6+5477G>C) n.672C>G c.4175C>G (p.Ala1392Gly) c.4109C>G (p.Ala1370Gly) c.4169C>G (p.Ala1390Gly) c.4115C>G (p.Ala1372Gly) c.4040C>G (p.Ala1347Gly) c.3635C>G (p.Ala1212Gly) c.2993C>G (p.Ala998Gly) c.503C>G (p.Ala168Gly) n.4418C>G | |
10 | g.71732251C>T | CA5544881 | C10orf105,CDH23 | c.3980C>T (p.Ala1327Val) c.3977C>T (p.Ala1326Val) c.3995C>T (p.Ala1332Val) c.-6+5477G>A (n.-6+5477G>A) n.672C>T c.4175C>T (p.Ala1392Val) c.4109C>T (p.Ala1370Val) c.4169C>T (p.Ala1390Val) c.4115C>T (p.Ala1372Val) c.4040C>T (p.Ala1347Val) c.3635C>T (p.Ala1212Val) c.2993C>T (p.Ala998Val) c.503C>T (p.Ala168Val) n.4418C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |