Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71740866C>A | CA377160462 | CDH23 | c.4533C>A (p.His1511Gln) c.4548C>A (p.His1516Gln) n.1222C>A c.4728C>A (p.His1576Gln) c.4662C>A (p.His1554Gln) c.4725C>A (p.His1575Gln) c.4722C>A (p.His1574Gln) c.4668C>A (p.His1556Gln) c.4593C>A (p.His1531Gln) c.4188C>A (p.His1396Gln) c.3546C>A (p.His1182Gln) c.1056C>A (p.His352Gln) n.4971C>A | |
10 | g.71740866C>G | CA377160464 | CDH23 | c.4533C>G (p.His1511Gln) c.4548C>G (p.His1516Gln) n.1222C>G c.4728C>G (p.His1576Gln) c.4662C>G (p.His1554Gln) c.4725C>G (p.His1575Gln) c.4722C>G (p.His1574Gln) c.4668C>G (p.His1556Gln) c.4593C>G (p.His1531Gln) c.4188C>G (p.His1396Gln) c.3546C>G (p.His1182Gln) c.1056C>G (p.His352Gln) n.4971C>G | |
10 | g.71740866C>T | CA470069211 | CDH23 | c.4533C>T (p.His1511=) c.4548C>T (p.His1516=) n.1222C>T c.4728C>T (p.His1576=) c.4662C>T (p.His1554=) c.4725C>T (p.His1575=) c.4722C>T (p.His1574=) c.4668C>T (p.His1556=) c.4593C>T (p.His1531=) c.4188C>T (p.His1396=) c.3546C>T (p.His1182=) c.1056C>T (p.His352=) n.4971C>T | |
10 | g.71740867A= | CA1918853842 | CDH23 | c.4534A= (p.Ile1512=) c.4549A= (p.Ile1517=) n.1223A= c.4729A= (p.Ile1577=) c.4663A= (p.Ile1555=) c.4726A= (p.Ile1576=) c.4723A= (p.Ile1575=) c.4669A= (p.Ile1557=) c.4594A= (p.Ile1532=) c.4189A= (p.Ile1397=) c.3547A= (p.Ile1183=) c.1057A= (p.Ile353=) n.4972A= | |
10 | g.71740867A>C | CA377160465 | CDH23 | c.4534A>C (p.Ile1512Leu) c.4549A>C (p.Ile1517Leu) n.1223A>C c.4729A>C (p.Ile1577Leu) c.4663A>C (p.Ile1555Leu) c.4726A>C (p.Ile1576Leu) c.4723A>C (p.Ile1575Leu) c.4669A>C (p.Ile1557Leu) c.4594A>C (p.Ile1532Leu) c.4189A>C (p.Ile1397Leu) c.3547A>C (p.Ile1183Leu) c.1057A>C (p.Ile353Leu) n.4972A>C | |
10 | g.71740867A>G | CA377160466 | CDH23 | c.4534A>G (p.Ile1512Val) c.4549A>G (p.Ile1517Val) n.1223A>G c.4729A>G (p.Ile1577Val) c.4663A>G (p.Ile1555Val) c.4726A>G (p.Ile1576Val) c.4723A>G (p.Ile1575Val) c.4669A>G (p.Ile1557Val) c.4594A>G (p.Ile1532Val) c.4189A>G (p.Ile1397Val) c.3547A>G (p.Ile1183Val) c.1057A>G (p.Ile353Val) n.4972A>G | |
10 | g.71740867A>T | CA5545085 | CDH23 | c.4534A>T (p.Ile1512Phe) c.4549A>T (p.Ile1517Phe) n.1223A>T c.4729A>T (p.Ile1577Phe) c.4663A>T (p.Ile1555Phe) c.4726A>T (p.Ile1576Phe) c.4723A>T (p.Ile1575Phe) c.4669A>T (p.Ile1557Phe) c.4594A>T (p.Ile1532Phe) c.4189A>T (p.Ile1397Phe) c.3547A>T (p.Ile1183Phe) c.1057A>T (p.Ile353Phe) n.4972A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740868T>A | CA377160470 | CDH23 | c.4535T>A (p.Ile1512Asn) c.4550T>A (p.Ile1517Asn) n.1224T>A c.4730T>A (p.Ile1577Asn) c.4664T>A (p.Ile1555Asn) c.4727T>A (p.Ile1576Asn) c.4724T>A (p.Ile1575Asn) c.4670T>A (p.Ile1557Asn) c.4595T>A (p.Ile1532Asn) c.4190T>A (p.Ile1397Asn) c.3548T>A (p.Ile1183Asn) c.1058T>A (p.Ile353Asn) n.4973T>A | dbSNP |
10 | g.71740868T>C | CA377160472 | CDH23 | c.4535T>C (p.Ile1512Thr) c.4550T>C (p.Ile1517Thr) n.1224T>C c.4730T>C (p.Ile1577Thr) c.4664T>C (p.Ile1555Thr) c.4727T>C (p.Ile1576Thr) c.4724T>C (p.Ile1575Thr) c.4670T>C (p.Ile1557Thr) c.4595T>C (p.Ile1532Thr) c.4190T>C (p.Ile1397Thr) c.3548T>C (p.Ile1183Thr) c.1058T>C (p.Ile353Thr) n.4973T>C | |
10 | g.71740868T>G | CA377160473 | CDH23 | c.4535T>G (p.Ile1512Ser) c.4550T>G (p.Ile1517Ser) n.1224T>G c.4730T>G (p.Ile1577Ser) c.4664T>G (p.Ile1555Ser) c.4727T>G (p.Ile1576Ser) c.4724T>G (p.Ile1575Ser) c.4670T>G (p.Ile1557Ser) c.4595T>G (p.Ile1532Ser) c.4190T>G (p.Ile1397Ser) c.3548T>G (p.Ile1183Ser) c.1058T>G (p.Ile353Ser) n.4973T>G | |
10 | g.71740868T= | CA1918853843 | CDH23 | c.4535T= (p.Ile1512=) c.4550T= (p.Ile1517=) n.1224T= c.4730T= (p.Ile1577=) c.4664T= (p.Ile1555=) c.4727T= (p.Ile1576=) c.4724T= (p.Ile1575=) c.4670T= (p.Ile1557=) c.4595T= (p.Ile1532=) c.4190T= (p.Ile1397=) c.3548T= (p.Ile1183=) c.1058T= (p.Ile353=) n.4973T= | |
10 | g.71740869C>A | CA5545086 | CDH23 | c.4536C>A (p.Ile1512=) c.4551C>A (p.Ile1517=) n.1225C>A c.4731C>A (p.Ile1577=) c.4665C>A (p.Ile1555=) c.4728C>A (p.Ile1576=) c.4725C>A (p.Ile1575=) c.4671C>A (p.Ile1557=) c.4596C>A (p.Ile1532=) c.4191C>A (p.Ile1397=) c.3549C>A (p.Ile1183=) c.1059C>A (p.Ile353=) n.4974C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740869C= | CA1918853844 | CDH23 | c.4536C= (p.Ile1512=) c.4551C= (p.Ile1517=) n.1225C= c.4731C= (p.Ile1577=) c.4665C= (p.Ile1555=) c.4728C= (p.Ile1576=) c.4725C= (p.Ile1575=) c.4671C= (p.Ile1557=) c.4596C= (p.Ile1532=) c.4191C= (p.Ile1397=) c.3549C= (p.Ile1183=) c.1059C= (p.Ile353=) n.4974C= | |
10 | g.71740869C>G | CA377160478 | CDH23 | c.4536C>G (p.Ile1512Met) c.4551C>G (p.Ile1517Met) n.1225C>G c.4731C>G (p.Ile1577Met) c.4665C>G (p.Ile1555Met) c.4728C>G (p.Ile1576Met) c.4725C>G (p.Ile1575Met) c.4671C>G (p.Ile1557Met) c.4596C>G (p.Ile1532Met) c.4191C>G (p.Ile1397Met) c.3549C>G (p.Ile1183Met) c.1059C>G (p.Ile353Met) n.4974C>G | dbSNP |
10 | g.71740869C>T | CA470069212 | CDH23 | c.4536C>T (p.Ile1512=) c.4551C>T (p.Ile1517=) n.1225C>T c.4731C>T (p.Ile1577=) c.4665C>T (p.Ile1555=) c.4728C>T (p.Ile1576=) c.4725C>T (p.Ile1575=) c.4671C>T (p.Ile1557=) c.4596C>T (p.Ile1532=) c.4191C>T (p.Ile1397=) c.3549C>T (p.Ile1183=) c.1059C>T (p.Ile353=) n.4974C>T | dbSNP |
10 | g.71740870C>A | CA377160481 | CDH23 | c.4537C>A (p.Leu1513Met) c.4552C>A (p.Leu1518Met) n.1226C>A c.4732C>A (p.Leu1578Met) c.4666C>A (p.Leu1556Met) c.4729C>A (p.Leu1577Met) c.4726C>A (p.Leu1576Met) c.4672C>A (p.Leu1558Met) c.4597C>A (p.Leu1533Met) c.4192C>A (p.Leu1398Met) c.3550C>A (p.Leu1184Met) c.1060C>A (p.Leu354Met) n.4975C>A | |
10 | g.71740870C= | CA1918853845 | CDH23 | c.4537C= (p.Leu1513=) c.4552C= (p.Leu1518=) n.1226C= c.4732C= (p.Leu1578=) c.4666C= (p.Leu1556=) c.4729C= (p.Leu1577=) c.4726C= (p.Leu1576=) c.4672C= (p.Leu1558=) c.4597C= (p.Leu1533=) c.4192C= (p.Leu1398=) c.3550C= (p.Leu1184=) c.1060C= (p.Leu354=) n.4975C= | |
10 | g.71740870C>G | CA377160483 | CDH23 | c.4537C>G (p.Leu1513Val) c.4552C>G (p.Leu1518Val) n.1226C>G c.4732C>G (p.Leu1578Val) c.4666C>G (p.Leu1556Val) c.4729C>G (p.Leu1577Val) c.4726C>G (p.Leu1576Val) c.4672C>G (p.Leu1558Val) c.4597C>G (p.Leu1533Val) c.4192C>G (p.Leu1398Val) c.3550C>G (p.Leu1184Val) c.1060C>G (p.Leu354Val) n.4975C>G | |
10 | g.71740870C>T | CA470069213 | CDH23 | c.4537C>T (p.Leu1513=) c.4552C>T (p.Leu1518=) n.1226C>T c.4732C>T (p.Leu1578=) c.4666C>T (p.Leu1556=) c.4729C>T (p.Leu1577=) c.4726C>T (p.Leu1576=) c.4672C>T (p.Leu1558=) c.4597C>T (p.Leu1533=) c.4192C>T (p.Leu1398=) c.3550C>T (p.Leu1184=) c.1060C>T (p.Leu354=) n.4975C>T | COSMIC |
10 | g.71740870_71740871insA | CA668097550 | CDH23 | c.4537_4538insA (p.Leu1513HisfsTer10) c.4552_4553insA (p.Leu1518HisfsTer10) n.1226_1227insA c.4732_4733insA (p.Leu1578HisfsTer10) c.4666_4667insA (p.Leu1556HisfsTer10) c.4729_4730insA (p.Leu1577HisfsTer10) c.4726_4727insA (p.Leu1576HisfsTer10) c.4672_4673insA (p.Leu1558HisfsTer10) c.4597_4598insA (p.Leu1533HisfsTer10) c.4192_4193insA (p.Leu1398HisfsTer10) c.3550_3551insA (p.Leu1184HisfsTer10) c.1060_1061insA (p.Leu354HisfsTer10) n.4975_4976insA | dbSNP |
10 | g.71740871T>A | CA377160489 | CDH23 | c.4538T>A (p.Leu1513Gln) c.4553T>A (p.Leu1518Gln) n.1227T>A c.4733T>A (p.Leu1578Gln) c.4667T>A (p.Leu1556Gln) c.4730T>A (p.Leu1577Gln) c.4727T>A (p.Leu1576Gln) c.4673T>A (p.Leu1558Gln) c.4598T>A (p.Leu1533Gln) c.4193T>A (p.Leu1398Gln) c.3551T>A (p.Leu1184Gln) c.1061T>A (p.Leu354Gln) n.4976T>A | |
10 | g.71740871T>C | CA377160487 | CDH23 | c.4538T>C (p.Leu1513Pro) c.4553T>C (p.Leu1518Pro) n.1227T>C c.4733T>C (p.Leu1578Pro) c.4667T>C (p.Leu1556Pro) c.4730T>C (p.Leu1577Pro) c.4727T>C (p.Leu1576Pro) c.4673T>C (p.Leu1558Pro) c.4598T>C (p.Leu1533Pro) c.4193T>C (p.Leu1398Pro) c.3551T>C (p.Leu1184Pro) c.1061T>C (p.Leu354Pro) n.4976T>C | ClinVar dbSNP |
10 | g.71740871T>G | CA377160485 | CDH23 | c.4538T>G (p.Leu1513Arg) c.4553T>G (p.Leu1518Arg) n.1227T>G c.4733T>G (p.Leu1578Arg) c.4667T>G (p.Leu1556Arg) c.4730T>G (p.Leu1577Arg) c.4727T>G (p.Leu1576Arg) c.4673T>G (p.Leu1558Arg) c.4598T>G (p.Leu1533Arg) c.4193T>G (p.Leu1398Arg) c.3551T>G (p.Leu1184Arg) c.1061T>G (p.Leu354Arg) n.4976T>G | |
10 | g.71740871T= | CA1918853846 | CDH23 | c.4538T= (p.Leu1513=) c.4553T= (p.Leu1518=) n.1227T= c.4733T= (p.Leu1578=) c.4667T= (p.Leu1556=) c.4730T= (p.Leu1577=) c.4727T= (p.Leu1576=) c.4673T= (p.Leu1558=) c.4598T= (p.Leu1533=) c.4193T= (p.Leu1398=) c.3551T= (p.Leu1184=) c.1061T= (p.Leu354=) n.4976T= | |
10 | g.71740872G>A | CA470069215 | CDH23 | c.4539G>A (p.Leu1513=) c.4554G>A (p.Leu1518=) n.1228G>A c.4734G>A (p.Leu1578=) c.4668G>A (p.Leu1556=) c.4731G>A (p.Leu1577=) c.4728G>A (p.Leu1576=) c.4674G>A (p.Leu1558=) c.4599G>A (p.Leu1533=) c.4194G>A (p.Leu1398=) c.3552G>A (p.Leu1184=) c.1062G>A (p.Leu354=) n.4977G>A | gnomAD v3 gnomAD v4 |
10 | g.71740872G>C | CA470069216 | CDH23 | c.4539G>C (p.Leu1513=) c.4554G>C (p.Leu1518=) n.1228G>C c.4734G>C (p.Leu1578=) c.4668G>C (p.Leu1556=) c.4731G>C (p.Leu1577=) c.4728G>C (p.Leu1576=) c.4674G>C (p.Leu1558=) c.4599G>C (p.Leu1533=) c.4194G>C (p.Leu1398=) c.3552G>C (p.Leu1184=) c.1062G>C (p.Leu354=) n.4977G>C | |
10 | g.71740872G>T | CA470069217 | CDH23 | c.4539G>T (p.Leu1513=) c.4554G>T (p.Leu1518=) n.1228G>T c.4734G>T (p.Leu1578=) c.4668G>T (p.Leu1556=) c.4731G>T (p.Leu1577=) c.4728G>T (p.Leu1576=) c.4674G>T (p.Leu1558=) c.4599G>T (p.Leu1533=) c.4194G>T (p.Leu1398=) c.3552G>T (p.Leu1184=) c.1062G>T (p.Leu354=) n.4977G>T | |
10 | g.71740873C>A | CA377160491 | CDH23 | c.4540C>A (p.Gln1514Lys) c.4555C>A (p.Gln1519Lys) n.1229C>A c.4735C>A (p.Gln1579Lys) c.4669C>A (p.Gln1557Lys) c.4732C>A (p.Gln1578Lys) c.4729C>A (p.Gln1577Lys) c.4675C>A (p.Gln1559Lys) c.4600C>A (p.Gln1534Lys) c.4195C>A (p.Gln1399Lys) c.3553C>A (p.Gln1185Lys) c.1063C>A (p.Gln355Lys) n.4978C>A | |
10 | g.71740873C>G | CA377160493 | CDH23 | c.4540C>G (p.Gln1514Glu) c.4555C>G (p.Gln1519Glu) n.1229C>G c.4735C>G (p.Gln1579Glu) c.4669C>G (p.Gln1557Glu) c.4732C>G (p.Gln1578Glu) c.4729C>G (p.Gln1577Glu) c.4675C>G (p.Gln1559Glu) c.4600C>G (p.Gln1534Glu) c.4195C>G (p.Gln1399Glu) c.3553C>G (p.Gln1185Glu) c.1063C>G (p.Gln355Glu) n.4978C>G | |
10 | g.71740873C>T | CA377160494 | CDH23 | c.4540C>T (p.Gln1514Ter) c.4555C>T (p.Gln1519Ter) n.1229C>T c.4735C>T (p.Gln1579Ter) c.4669C>T (p.Gln1557Ter) c.4732C>T (p.Gln1578Ter) c.4729C>T (p.Gln1577Ter) c.4675C>T (p.Gln1559Ter) c.4600C>T (p.Gln1534Ter) c.4195C>T (p.Gln1399Ter) c.3553C>T (p.Gln1185Ter) c.1063C>T (p.Gln355Ter) n.4978C>T | dbSNP gnomAD v4 |
10 | g.71740874A>C | CA377160495 | CDH23 | c.4541A>C (p.Gln1514Pro) c.4556A>C (p.Gln1519Pro) n.1230A>C c.4736A>C (p.Gln1579Pro) c.4670A>C (p.Gln1557Pro) c.4733A>C (p.Gln1578Pro) c.4730A>C (p.Gln1577Pro) c.4676A>C (p.Gln1559Pro) c.4601A>C (p.Gln1534Pro) c.4196A>C (p.Gln1399Pro) c.3554A>C (p.Gln1185Pro) c.1064A>C (p.Gln355Pro) n.4979A>C | |
10 | g.71740874A>G | CA377160496 | CDH23 | c.4541A>G (p.Gln1514Arg) c.4556A>G (p.Gln1519Arg) n.1230A>G c.4736A>G (p.Gln1579Arg) c.4670A>G (p.Gln1557Arg) c.4733A>G (p.Gln1578Arg) c.4730A>G (p.Gln1577Arg) c.4676A>G (p.Gln1559Arg) c.4601A>G (p.Gln1534Arg) c.4196A>G (p.Gln1399Arg) c.3554A>G (p.Gln1185Arg) c.1064A>G (p.Gln355Arg) n.4979A>G | |
10 | g.71740874A>T | CA377160497 | CDH23 | c.4541A>T (p.Gln1514Leu) c.4556A>T (p.Gln1519Leu) n.1230A>T c.4736A>T (p.Gln1579Leu) c.4670A>T (p.Gln1557Leu) c.4733A>T (p.Gln1578Leu) c.4730A>T (p.Gln1577Leu) c.4676A>T (p.Gln1559Leu) c.4601A>T (p.Gln1534Leu) c.4196A>T (p.Gln1399Leu) c.3554A>T (p.Gln1185Leu) c.1064A>T (p.Gln355Leu) n.4979A>T | |
10 | g.71740875_71740879del | CA929779474 | CDH23 | c.4542_4546del (p.Gln1514HisfsTer7) c.4557_4561del (p.Gln1519HisfsTer7) n.1231_1235del c.4737_4741del (p.Gln1579HisfsTer7) c.4671_4675del (p.Gln1557HisfsTer7) c.4734_4738del (p.Gln1578HisfsTer7) c.4731_4735del (p.Gln1577HisfsTer7) c.4677_4681del (p.Gln1559HisfsTer7) c.4602_4606del (p.Gln1534HisfsTer7) c.4197_4201del (p.Gln1399HisfsTer7) c.3555_3559del (p.Gln1185HisfsTer7) c.1065_1069del (p.Gln355HisfsTer7) n.4980_4984del | gnomAD v3 gnomAD v4 |
10 | g.71740875G>A | CA5545087 | CDH23 | c.4542G>A (p.Gln1514=) c.4557G>A (p.Gln1519=) n.1231G>A c.4737G>A (p.Gln1579=) c.4671G>A (p.Gln1557=) c.4734G>A (p.Gln1578=) c.4731G>A (p.Gln1577=) c.4677G>A (p.Gln1559=) c.4602G>A (p.Gln1534=) c.4197G>A (p.Gln1399=) c.3555G>A (p.Gln1185=) c.1065G>A (p.Gln355=) n.4980G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740875G>C | CA377160499 | CDH23 | c.4542G>C (p.Gln1514His) c.4557G>C (p.Gln1519His) n.1231G>C c.4737G>C (p.Gln1579His) c.4671G>C (p.Gln1557His) c.4734G>C (p.Gln1578His) c.4731G>C (p.Gln1577His) c.4677G>C (p.Gln1559His) c.4602G>C (p.Gln1534His) c.4197G>C (p.Gln1399His) c.3555G>C (p.Gln1185His) c.1065G>C (p.Gln355His) n.4980G>C | |
10 | g.71740875G= | CA1918853847 | CDH23 | c.4542G= (p.Gln1514=) c.4557G= (p.Gln1519=) n.1231G= c.4737G= (p.Gln1579=) c.4671G= (p.Gln1557=) c.4734G= (p.Gln1578=) c.4731G= (p.Gln1577=) c.4677G= (p.Gln1559=) c.4602G= (p.Gln1534=) c.4197G= (p.Gln1399=) c.3555G= (p.Gln1185=) c.1065G= (p.Gln355=) n.4980G= | |
10 | g.71740875G>T | CA377160500 | CDH23 | c.4542G>T (p.Gln1514His) c.4557G>T (p.Gln1519His) n.1231G>T c.4737G>T (p.Gln1579His) c.4671G>T (p.Gln1557His) c.4734G>T (p.Gln1578His) c.4731G>T (p.Gln1577His) c.4677G>T (p.Gln1559His) c.4602G>T (p.Gln1534His) c.4197G>T (p.Gln1399His) c.3555G>T (p.Gln1185His) c.1065G>T (p.Gln355His) n.4980G>T | |
10 | g.71740876G>A | CA5545088 | CDH23 | c.4543G>A (p.Val1515Met) c.4558G>A (p.Val1520Met) n.1232G>A c.4738G>A (p.Val1580Met) c.4672G>A (p.Val1558Met) c.4735G>A (p.Val1579Met) c.4732G>A (p.Val1578Met) c.4678G>A (p.Val1560Met) c.4603G>A (p.Val1535Met) c.4198G>A (p.Val1400Met) c.3556G>A (p.Val1186Met) c.1066G>A (p.Val356Met) n.4981G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740876G>C | CA5545090 | CDH23 | c.4543G>C (p.Val1515Leu) c.4558G>C (p.Val1520Leu) n.1232G>C c.4738G>C (p.Val1580Leu) c.4672G>C (p.Val1558Leu) c.4735G>C (p.Val1579Leu) c.4732G>C (p.Val1578Leu) c.4678G>C (p.Val1560Leu) c.4603G>C (p.Val1535Leu) c.4198G>C (p.Val1400Leu) c.3556G>C (p.Val1186Leu) c.1066G>C (p.Val356Leu) n.4981G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740876G= | CA1918853848 | CDH23 | c.4543G= (p.Val1515=) c.4558G= (p.Val1520=) n.1232G= c.4738G= (p.Val1580=) c.4672G= (p.Val1558=) c.4735G= (p.Val1579=) c.4732G= (p.Val1578=) c.4678G= (p.Val1560=) c.4603G= (p.Val1535=) c.4198G= (p.Val1400=) c.3556G= (p.Val1186=) c.1066G= (p.Val356=) n.4981G= | |
10 | g.71740876G>T | CA5545089 | CDH23 | c.4543G>T (p.Val1515Leu) c.4558G>T (p.Val1520Leu) n.1232G>T c.4738G>T (p.Val1580Leu) c.4672G>T (p.Val1558Leu) c.4735G>T (p.Val1579Leu) c.4732G>T (p.Val1578Leu) c.4678G>T (p.Val1560Leu) c.4603G>T (p.Val1535Leu) c.4198G>T (p.Val1400Leu) c.3556G>T (p.Val1186Leu) c.1066G>T (p.Val356Leu) n.4981G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740877T>A | CA377160505 | CDH23 | c.4544T>A (p.Val1515Glu) c.4559T>A (p.Val1520Glu) n.1233T>A c.4739T>A (p.Val1580Glu) c.4673T>A (p.Val1558Glu) c.4736T>A (p.Val1579Glu) c.4733T>A (p.Val1578Glu) c.4679T>A (p.Val1560Glu) c.4604T>A (p.Val1535Glu) c.4199T>A (p.Val1400Glu) c.3557T>A (p.Val1186Glu) c.1067T>A (p.Val356Glu) n.4982T>A | |
10 | g.71740877T>C | CA377160506 | CDH23 | c.4544T>C (p.Val1515Ala) c.4559T>C (p.Val1520Ala) n.1233T>C c.4739T>C (p.Val1580Ala) c.4673T>C (p.Val1558Ala) c.4736T>C (p.Val1579Ala) c.4733T>C (p.Val1578Ala) c.4679T>C (p.Val1560Ala) c.4604T>C (p.Val1535Ala) c.4199T>C (p.Val1400Ala) c.3557T>C (p.Val1186Ala) c.1067T>C (p.Val356Ala) n.4982T>C | |
10 | g.71740877T>G | CA377160504 | CDH23 | c.4544T>G (p.Val1515Gly) c.4559T>G (p.Val1520Gly) n.1233T>G c.4739T>G (p.Val1580Gly) c.4673T>G (p.Val1558Gly) c.4736T>G (p.Val1579Gly) c.4733T>G (p.Val1578Gly) c.4679T>G (p.Val1560Gly) c.4604T>G (p.Val1535Gly) c.4199T>G (p.Val1400Gly) c.3557T>G (p.Val1186Gly) c.1067T>G (p.Val356Gly) n.4982T>G | dbSNP |
10 | g.71740878G>A | CA470069220 | CDH23 | c.4545G>A (p.Val1515=) c.4560G>A (p.Val1520=) n.1234G>A c.4740G>A (p.Val1580=) c.4674G>A (p.Val1558=) c.4737G>A (p.Val1579=) c.4734G>A (p.Val1578=) c.4680G>A (p.Val1560=) c.4605G>A (p.Val1535=) c.4200G>A (p.Val1400=) c.3558G>A (p.Val1186=) c.1068G>A (p.Val356=) n.4983G>A | |
10 | g.71740878G>C | CA470069219 | CDH23 | c.4545G>C (p.Val1515=) c.4560G>C (p.Val1520=) n.1234G>C c.4740G>C (p.Val1580=) c.4674G>C (p.Val1558=) c.4737G>C (p.Val1579=) c.4734G>C (p.Val1578=) c.4680G>C (p.Val1560=) c.4605G>C (p.Val1535=) c.4200G>C (p.Val1400=) c.3558G>C (p.Val1186=) c.1068G>C (p.Val356=) n.4983G>C | |
10 | g.71740878G>T | CA470069218 | CDH23 | c.4545G>T (p.Val1515=) c.4560G>T (p.Val1520=) n.1234G>T c.4740G>T (p.Val1580=) c.4674G>T (p.Val1558=) c.4737G>T (p.Val1579=) c.4734G>T (p.Val1578=) c.4680G>T (p.Val1560=) c.4605G>T (p.Val1535=) c.4200G>T (p.Val1400=) c.3558G>T (p.Val1186=) c.1068G>T (p.Val356=) n.4983G>T | ClinVar |
10 | g.71740879A>C | CA377160510 | CDH23 | c.4546A>C (p.Thr1516Pro) c.4561A>C (p.Thr1521Pro) n.1235A>C c.4741A>C (p.Thr1581Pro) c.4675A>C (p.Thr1559Pro) c.4738A>C (p.Thr1580Pro) c.4735A>C (p.Thr1579Pro) c.4681A>C (p.Thr1561Pro) c.4606A>C (p.Thr1536Pro) c.4201A>C (p.Thr1401Pro) c.3559A>C (p.Thr1187Pro) c.1069A>C (p.Thr357Pro) n.4984A>C | |
10 | g.71740879A>G | CA377160512 | CDH23 | c.4546A>G (p.Thr1516Ala) c.4561A>G (p.Thr1521Ala) n.1235A>G c.4741A>G (p.Thr1581Ala) c.4675A>G (p.Thr1559Ala) c.4738A>G (p.Thr1580Ala) c.4735A>G (p.Thr1579Ala) c.4681A>G (p.Thr1561Ala) c.4606A>G (p.Thr1536Ala) c.4201A>G (p.Thr1401Ala) c.3559A>G (p.Thr1187Ala) c.1069A>G (p.Thr357Ala) n.4984A>G | ClinVar dbSNP gnomAD v4 |
10 | g.71740879A>T | CA377160514 | CDH23 | c.4546A>T (p.Thr1516Ser) c.4561A>T (p.Thr1521Ser) n.1235A>T c.4741A>T (p.Thr1581Ser) c.4675A>T (p.Thr1559Ser) c.4738A>T (p.Thr1580Ser) c.4735A>T (p.Thr1579Ser) c.4681A>T (p.Thr1561Ser) c.4606A>T (p.Thr1536Ser) c.4201A>T (p.Thr1401Ser) c.3559A>T (p.Thr1187Ser) c.1069A>T (p.Thr357Ser) n.4984A>T | |
10 | g.71740880C>A | CA377160516 | CDH23 | c.4547C>A (p.Thr1516Asn) c.4562C>A (p.Thr1521Asn) n.1236C>A c.4742C>A (p.Thr1581Asn) c.4676C>A (p.Thr1559Asn) c.4739C>A (p.Thr1580Asn) c.4736C>A (p.Thr1579Asn) c.4682C>A (p.Thr1561Asn) c.4607C>A (p.Thr1536Asn) c.4202C>A (p.Thr1401Asn) c.3560C>A (p.Thr1187Asn) c.1070C>A (p.Thr357Asn) n.4985C>A | ClinVar dbSNP |
10 | g.71740880C>G | CA377160518 | CDH23 | c.4547C>G (p.Thr1516Ser) c.4562C>G (p.Thr1521Ser) n.1236C>G c.4742C>G (p.Thr1581Ser) c.4676C>G (p.Thr1559Ser) c.4739C>G (p.Thr1580Ser) c.4736C>G (p.Thr1579Ser) c.4682C>G (p.Thr1561Ser) c.4607C>G (p.Thr1536Ser) c.4202C>G (p.Thr1401Ser) c.3560C>G (p.Thr1187Ser) c.1070C>G (p.Thr357Ser) n.4985C>G | |
10 | g.71740880C>T | CA377160521 | CDH23 | c.4547C>T (p.Thr1516Ile) c.4562C>T (p.Thr1521Ile) n.1236C>T c.4742C>T (p.Thr1581Ile) c.4676C>T (p.Thr1559Ile) c.4739C>T (p.Thr1580Ile) c.4736C>T (p.Thr1579Ile) c.4682C>T (p.Thr1561Ile) c.4607C>T (p.Thr1536Ile) c.4202C>T (p.Thr1401Ile) c.3560C>T (p.Thr1187Ile) c.1070C>T (p.Thr357Ile) n.4985C>T | ClinVar gnomAD v4 |
10 | g.71740881C>A | CA470069223 | CDH23 | c.4548C>A (p.Thr1516=) c.4563C>A (p.Thr1521=) n.1237C>A c.4743C>A (p.Thr1581=) c.4677C>A (p.Thr1559=) c.4740C>A (p.Thr1580=) c.4737C>A (p.Thr1579=) c.4683C>A (p.Thr1561=) c.4608C>A (p.Thr1536=) c.4203C>A (p.Thr1401=) c.3561C>A (p.Thr1187=) c.1071C>A (p.Thr357=) n.4986C>A | |
10 | g.71740881C= | CA1918853849 | CDH23 | c.4548C= (p.Thr1516=) c.4563C= (p.Thr1521=) n.1237C= c.4743C= (p.Thr1581=) c.4677C= (p.Thr1559=) c.4740C= (p.Thr1580=) c.4737C= (p.Thr1579=) c.4683C= (p.Thr1561=) c.4608C= (p.Thr1536=) c.4203C= (p.Thr1401=) c.3561C= (p.Thr1187=) c.1071C= (p.Thr357=) n.4986C= | |
10 | g.71740881C>G | CA470069222 | CDH23 | c.4548C>G (p.Thr1516=) c.4563C>G (p.Thr1521=) n.1237C>G c.4743C>G (p.Thr1581=) c.4677C>G (p.Thr1559=) c.4740C>G (p.Thr1580=) c.4737C>G (p.Thr1579=) c.4683C>G (p.Thr1561=) c.4608C>G (p.Thr1536=) c.4203C>G (p.Thr1401=) c.3561C>G (p.Thr1187=) c.1071C>G (p.Thr357=) n.4986C>G | |
10 | g.71740881C>T | CA470069221 | CDH23 | c.4548C>T (p.Thr1516=) c.4563C>T (p.Thr1521=) n.1237C>T c.4743C>T (p.Thr1581=) c.4677C>T (p.Thr1559=) c.4740C>T (p.Thr1580=) c.4737C>T (p.Thr1579=) c.4683C>T (p.Thr1561=) c.4608C>T (p.Thr1536=) c.4203C>T (p.Thr1401=) c.3561C>T (p.Thr1187=) c.1071C>T (p.Thr357=) n.4986C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740882A>C | CA377160524 | CDH23 | c.4549A>C (p.Ile1517Leu) c.4564A>C (p.Ile1522Leu) n.1238A>C c.4744A>C (p.Ile1582Leu) c.4678A>C (p.Ile1560Leu) c.4741A>C (p.Ile1581Leu) c.4738A>C (p.Ile1580Leu) c.4684A>C (p.Ile1562Leu) c.4609A>C (p.Ile1537Leu) c.4204A>C (p.Ile1402Leu) c.3562A>C (p.Ile1188Leu) c.1072A>C (p.Ile358Leu) n.4987A>C | |
10 | g.71740882A>G | CA377160525 | CDH23 | c.4549A>G (p.Ile1517Val) c.4564A>G (p.Ile1522Val) n.1238A>G c.4744A>G (p.Ile1582Val) c.4678A>G (p.Ile1560Val) c.4741A>G (p.Ile1581Val) c.4738A>G (p.Ile1580Val) c.4684A>G (p.Ile1562Val) c.4609A>G (p.Ile1537Val) c.4204A>G (p.Ile1402Val) c.3562A>G (p.Ile1188Val) c.1072A>G (p.Ile358Val) n.4987A>G | |
10 | g.71740882A>T | CA377160526 | CDH23 | c.4549A>T (p.Ile1517Phe) c.4564A>T (p.Ile1522Phe) n.1238A>T c.4744A>T (p.Ile1582Phe) c.4678A>T (p.Ile1560Phe) c.4741A>T (p.Ile1581Phe) c.4738A>T (p.Ile1580Phe) c.4684A>T (p.Ile1562Phe) c.4609A>T (p.Ile1537Phe) c.4204A>T (p.Ile1402Phe) c.3562A>T (p.Ile1188Phe) c.1072A>T (p.Ile358Phe) n.4987A>T | |
10 | g.71740883T>A | CA377160529 | CDH23 | c.4550T>A (p.Ile1517Asn) c.4565T>A (p.Ile1522Asn) n.1239T>A c.4745T>A (p.Ile1582Asn) c.4679T>A (p.Ile1560Asn) c.4742T>A (p.Ile1581Asn) c.4739T>A (p.Ile1580Asn) c.4685T>A (p.Ile1562Asn) c.4610T>A (p.Ile1537Asn) c.4205T>A (p.Ile1402Asn) c.3563T>A (p.Ile1188Asn) c.1073T>A (p.Ile358Asn) n.4988T>A | |
10 | g.71740883T>C | CA377160530 | CDH23 | c.4550T>C (p.Ile1517Thr) c.4565T>C (p.Ile1522Thr) n.1239T>C c.4745T>C (p.Ile1582Thr) c.4679T>C (p.Ile1560Thr) c.4742T>C (p.Ile1581Thr) c.4739T>C (p.Ile1580Thr) c.4685T>C (p.Ile1562Thr) c.4610T>C (p.Ile1537Thr) c.4205T>C (p.Ile1402Thr) c.3563T>C (p.Ile1188Thr) c.1073T>C (p.Ile358Thr) n.4988T>C | ClinVar dbSNP |
10 | g.71740883T>G | CA377160532 | CDH23 | c.4550T>G (p.Ile1517Ser) c.4565T>G (p.Ile1522Ser) n.1239T>G c.4745T>G (p.Ile1582Ser) c.4679T>G (p.Ile1560Ser) c.4742T>G (p.Ile1581Ser) c.4739T>G (p.Ile1580Ser) c.4685T>G (p.Ile1562Ser) c.4610T>G (p.Ile1537Ser) c.4205T>G (p.Ile1402Ser) c.3563T>G (p.Ile1188Ser) c.1073T>G (p.Ile358Ser) n.4988T>G | |
10 | g.71740883_71740884delinsTC | CA1918853850 | CDH23 | c.4550_4551delinsTC (p.Ile1517=) c.4565_4566delinsTC (p.Ile1522=) n.1239_1240delinsTC c.4745_4746delinsTC (p.Ile1582=) c.4679_4680delinsTC (p.Ile1560=) c.4742_4743delinsTC (p.Ile1581=) c.4739_4740delinsTC (p.Ile1580=) c.4685_4686delinsTC (p.Ile1562=) c.4610_4611delinsTC (p.Ile1537=) c.4205_4206delinsTC (p.Ile1402=) c.3563_3564delinsTC (p.Ile1188=) c.1073_1074delinsTC (p.Ile358=) n.4988_4989delinsTC | |
10 | g.71740884C>A | CA470069224 | CDH23 | c.4551C>A (p.Ile1517=) c.4566C>A (p.Ile1522=) n.1240C>A c.4746C>A (p.Ile1582=) c.4680C>A (p.Ile1560=) c.4743C>A (p.Ile1581=) c.4740C>A (p.Ile1580=) c.4686C>A (p.Ile1562=) c.4611C>A (p.Ile1537=) c.4206C>A (p.Ile1402=) c.3564C>A (p.Ile1188=) c.1074C>A (p.Ile358=) n.4989C>A | |
10 | g.71740884C= | CA1918853851 | CDH23 | c.4551C= (p.Ile1517=) c.4566C= (p.Ile1522=) n.1240C= c.4746C= (p.Ile1582=) c.4680C= (p.Ile1560=) c.4743C= (p.Ile1581=) c.4740C= (p.Ile1580=) c.4686C= (p.Ile1562=) c.4611C= (p.Ile1537=) c.4206C= (p.Ile1402=) c.3564C= (p.Ile1188=) c.1074C= (p.Ile358=) n.4989C= | |
10 | g.71740884C>G | CA377160535 | CDH23 | c.4551C>G (p.Ile1517Met) c.4566C>G (p.Ile1522Met) n.1240C>G c.4746C>G (p.Ile1582Met) c.4680C>G (p.Ile1560Met) c.4743C>G (p.Ile1581Met) c.4740C>G (p.Ile1580Met) c.4686C>G (p.Ile1562Met) c.4611C>G (p.Ile1537Met) c.4206C>G (p.Ile1402Met) c.3564C>G (p.Ile1188Met) c.1074C>G (p.Ile358Met) n.4989C>G | |
10 | g.71740884C>T | CA470069225 | CDH23 | c.4551C>T (p.Ile1517=) c.4566C>T (p.Ile1522=) n.1240C>T c.4746C>T (p.Ile1582=) c.4680C>T (p.Ile1560=) c.4743C>T (p.Ile1581=) c.4740C>T (p.Ile1580=) c.4686C>T (p.Ile1562=) c.4611C>T (p.Ile1537=) c.4206C>T (p.Ile1402=) c.3564C>T (p.Ile1188=) c.1074C>T (p.Ile358=) n.4989C>T | dbSNP |
10 | g.71740885del | CA594323985 | CDH23 | c.4552del (p.Leu1518TrpfsTer20) c.4567del (p.Leu1523TrpfsTer20) n.1241del c.4747del (p.Leu1583TrpfsTer20) c.4681del (p.Leu1561TrpfsTer20) c.4744del (p.Leu1582TrpfsTer20) c.4741del (p.Leu1581TrpfsTer20) c.4687del (p.Leu1563TrpfsTer20) c.4612del (p.Leu1538TrpfsTer20) c.4207del (p.Leu1403TrpfsTer20) c.3565del (p.Leu1189TrpfsTer20) c.1075del (p.Leu359TrpfsTer20) n.4990del | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740885C>A | CA377160537 | CDH23 | c.4552C>A (p.Leu1518Met) c.4567C>A (p.Leu1523Met) n.1241C>A c.4747C>A (p.Leu1583Met) c.4681C>A (p.Leu1561Met) c.4744C>A (p.Leu1582Met) c.4741C>A (p.Leu1581Met) c.4687C>A (p.Leu1563Met) c.4612C>A (p.Leu1538Met) c.4207C>A (p.Leu1403Met) c.3565C>A (p.Leu1189Met) c.1075C>A (p.Leu359Met) n.4990C>A | |
10 | g.71740885C= | CA1918853852 | CDH23 | c.4552C= (p.Leu1518=) c.4567C= (p.Leu1523=) n.1241C= c.4747C= (p.Leu1583=) c.4681C= (p.Leu1561=) c.4744C= (p.Leu1582=) c.4741C= (p.Leu1581=) c.4687C= (p.Leu1563=) c.4612C= (p.Leu1538=) c.4207C= (p.Leu1403=) c.3565C= (p.Leu1189=) c.1075C= (p.Leu359=) n.4990C= | |
10 | g.71740885C>G | CA5545091 | CDH23 | c.4552C>G (p.Leu1518Val) c.4567C>G (p.Leu1523Val) n.1241C>G c.4747C>G (p.Leu1583Val) c.4681C>G (p.Leu1561Val) c.4744C>G (p.Leu1582Val) c.4741C>G (p.Leu1581Val) c.4687C>G (p.Leu1563Val) c.4612C>G (p.Leu1538Val) c.4207C>G (p.Leu1403Val) c.3565C>G (p.Leu1189Val) c.1075C>G (p.Leu359Val) n.4990C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740885C>T | CA470069226 | CDH23 | c.4552C>T (p.Leu1518=) c.4567C>T (p.Leu1523=) n.1241C>T c.4747C>T (p.Leu1583=) c.4681C>T (p.Leu1561=) c.4744C>T (p.Leu1582=) c.4741C>T (p.Leu1581=) c.4687C>T (p.Leu1563=) c.4612C>T (p.Leu1538=) c.4207C>T (p.Leu1403=) c.3565C>T (p.Leu1189=) c.1075C>T (p.Leu359=) n.4990C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740886T>A | CA377160539 | CDH23 | c.4553T>A (p.Leu1518Gln) c.4568T>A (p.Leu1523Gln) n.1242T>A c.4748T>A (p.Leu1583Gln) c.4682T>A (p.Leu1561Gln) c.4745T>A (p.Leu1582Gln) c.4742T>A (p.Leu1581Gln) c.4688T>A (p.Leu1563Gln) c.4613T>A (p.Leu1538Gln) c.4208T>A (p.Leu1403Gln) c.3566T>A (p.Leu1189Gln) c.1076T>A (p.Leu359Gln) n.4991T>A | |
10 | g.71740886T>C | CA377160540 | CDH23 | c.4553T>C (p.Leu1518Pro) c.4568T>C (p.Leu1523Pro) n.1242T>C c.4748T>C (p.Leu1583Pro) c.4682T>C (p.Leu1561Pro) c.4745T>C (p.Leu1582Pro) c.4742T>C (p.Leu1581Pro) c.4688T>C (p.Leu1563Pro) c.4613T>C (p.Leu1538Pro) c.4208T>C (p.Leu1403Pro) c.3566T>C (p.Leu1189Pro) c.1076T>C (p.Leu359Pro) n.4991T>C | gnomAD v4 |
10 | g.71740886T>G | CA377160542 | CDH23 | c.4553T>G (p.Leu1518Arg) c.4568T>G (p.Leu1523Arg) n.1242T>G c.4748T>G (p.Leu1583Arg) c.4682T>G (p.Leu1561Arg) c.4745T>G (p.Leu1582Arg) c.4742T>G (p.Leu1581Arg) c.4688T>G (p.Leu1563Arg) c.4613T>G (p.Leu1538Arg) c.4208T>G (p.Leu1403Arg) c.3566T>G (p.Leu1189Arg) c.1076T>G (p.Leu359Arg) n.4991T>G | COSMIC |
10 | g.71740887G>A | CA470069227 | CDH23 | c.4554G>A (p.Leu1518=) c.4569G>A (p.Leu1523=) n.1243G>A c.4749G>A (p.Leu1583=) c.4683G>A (p.Leu1561=) c.4746G>A (p.Leu1582=) c.4743G>A (p.Leu1581=) c.4689G>A (p.Leu1563=) c.4614G>A (p.Leu1538=) c.4209G>A (p.Leu1403=) c.3567G>A (p.Leu1189=) c.1077G>A (p.Leu359=) n.4992G>A | ClinVar dbSNP gnomAD v4 |
10 | g.71740887G>C | CA470069228 | CDH23 | c.4554G>C (p.Leu1518=) c.4569G>C (p.Leu1523=) n.1243G>C c.4749G>C (p.Leu1583=) c.4683G>C (p.Leu1561=) c.4746G>C (p.Leu1582=) c.4743G>C (p.Leu1581=) c.4689G>C (p.Leu1563=) c.4614G>C (p.Leu1538=) c.4209G>C (p.Leu1403=) c.3567G>C (p.Leu1189=) c.1077G>C (p.Leu359=) n.4992G>C | |
10 | g.71740887G= | CA1918853853 | CDH23 | c.4554G= (p.Leu1518=) c.4569G= (p.Leu1523=) n.1243G= c.4749G= (p.Leu1583=) c.4683G= (p.Leu1561=) c.4746G= (p.Leu1582=) c.4743G= (p.Leu1581=) c.4689G= (p.Leu1563=) c.4614G= (p.Leu1538=) c.4209G= (p.Leu1403=) c.3567G= (p.Leu1189=) c.1077G= (p.Leu359=) n.4992G= | |
10 | g.71740887G>T | CA470069229 | CDH23 | c.4554G>T (p.Leu1518=) c.4569G>T (p.Leu1523=) n.1243G>T c.4749G>T (p.Leu1583=) c.4683G>T (p.Leu1561=) c.4746G>T (p.Leu1582=) c.4743G>T (p.Leu1581=) c.4689G>T (p.Leu1563=) c.4614G>T (p.Leu1538=) c.4209G>T (p.Leu1403=) c.3567G>T (p.Leu1189=) c.1077G>T (p.Leu359=) n.4992G>T | |
10 | g.71740888G>A | CA377160544 | CDH23 | c.4555G>A (p.Asp1519Asn) c.4570G>A (p.Asp1524Asn) n.1244G>A c.4750G>A (p.Asp1584Asn) c.4684G>A (p.Asp1562Asn) c.4747G>A (p.Asp1583Asn) c.4744G>A (p.Asp1582Asn) c.4690G>A (p.Asp1564Asn) c.4615G>A (p.Asp1539Asn) c.4210G>A (p.Asp1404Asn) c.3568G>A (p.Asp1190Asn) c.1078G>A (p.Asp360Asn) n.4993G>A | |
10 | g.71740888G>C | CA137435 | CDH23 | c.4555G>C (p.Asp1519His) c.4570G>C (p.Asp1524His) n.1244G>C c.4750G>C (p.Asp1584His) c.4684G>C (p.Asp1562His) c.4747G>C (p.Asp1583His) c.4744G>C (p.Asp1582His) c.4690G>C (p.Asp1564His) c.4615G>C (p.Asp1539His) c.4210G>C (p.Asp1404His) c.3568G>C (p.Asp1190His) c.1078G>C (p.Asp360His) n.4993G>C | ClinVar dbSNP |
10 | g.71740888G= | CA1918853854 | CDH23 | c.4555G= (p.Asp1519=) c.4570G= (p.Asp1524=) n.1244G= c.4750G= (p.Asp1584=) c.4684G= (p.Asp1562=) c.4747G= (p.Asp1583=) c.4744G= (p.Asp1582=) c.4690G= (p.Asp1564=) c.4615G= (p.Asp1539=) c.4210G= (p.Asp1404=) c.3568G= (p.Asp1190=) c.1078G= (p.Asp360=) n.4993G= | |
10 | g.71740888G>T | CA377160547 | CDH23 | c.4555G>T (p.Asp1519Tyr) c.4570G>T (p.Asp1524Tyr) n.1244G>T c.4750G>T (p.Asp1584Tyr) c.4684G>T (p.Asp1562Tyr) c.4747G>T (p.Asp1583Tyr) c.4744G>T (p.Asp1582Tyr) c.4690G>T (p.Asp1564Tyr) c.4615G>T (p.Asp1539Tyr) c.4210G>T (p.Asp1404Tyr) c.3568G>T (p.Asp1190Tyr) c.1078G>T (p.Asp360Tyr) n.4993G>T | |
10 | g.71740889A>C | CA377160549 | CDH23 | c.4556A>C (p.Asp1519Ala) c.4571A>C (p.Asp1524Ala) n.1245A>C c.4751A>C (p.Asp1584Ala) c.4685A>C (p.Asp1562Ala) c.4748A>C (p.Asp1583Ala) c.4745A>C (p.Asp1582Ala) c.4691A>C (p.Asp1564Ala) c.4616A>C (p.Asp1539Ala) c.4211A>C (p.Asp1404Ala) c.3569A>C (p.Asp1190Ala) c.1079A>C (p.Asp360Ala) n.4994A>C | |
10 | g.71740889A>G | CA377160551 | CDH23 | c.4556A>G (p.Asp1519Gly) c.4571A>G (p.Asp1524Gly) n.1245A>G c.4751A>G (p.Asp1584Gly) c.4685A>G (p.Asp1562Gly) c.4748A>G (p.Asp1583Gly) c.4745A>G (p.Asp1582Gly) c.4691A>G (p.Asp1564Gly) c.4616A>G (p.Asp1539Gly) c.4211A>G (p.Asp1404Gly) c.3569A>G (p.Asp1190Gly) c.1079A>G (p.Asp360Gly) n.4994A>G | |
10 | g.71740889A>T | CA377160553 | CDH23 | c.4556A>T (p.Asp1519Val) c.4571A>T (p.Asp1524Val) n.1245A>T c.4751A>T (p.Asp1584Val) c.4685A>T (p.Asp1562Val) c.4748A>T (p.Asp1583Val) c.4745A>T (p.Asp1582Val) c.4691A>T (p.Asp1564Val) c.4616A>T (p.Asp1539Val) c.4211A>T (p.Asp1404Val) c.3569A>T (p.Asp1190Val) c.1079A>T (p.Asp360Val) n.4994A>T | gnomAD v4 |
10 | g.71740890C>A | CA377160556 | CDH23 | c.4557C>A (p.Asp1519Glu) c.4572C>A (p.Asp1524Glu) n.1246C>A c.4752C>A (p.Asp1584Glu) c.4686C>A (p.Asp1562Glu) c.4749C>A (p.Asp1583Glu) c.4746C>A (p.Asp1582Glu) c.4692C>A (p.Asp1564Glu) c.4617C>A (p.Asp1539Glu) c.4212C>A (p.Asp1404Glu) c.3570C>A (p.Asp1190Glu) c.1080C>A (p.Asp360Glu) n.4995C>A | |
10 | g.71740890C= | CA1918853855 | CDH23 | c.4557C= (p.Asp1519=) c.4572C= (p.Asp1524=) n.1246C= c.4752C= (p.Asp1584=) c.4686C= (p.Asp1562=) c.4749C= (p.Asp1583=) c.4746C= (p.Asp1582=) c.4692C= (p.Asp1564=) c.4617C= (p.Asp1539=) c.4212C= (p.Asp1404=) c.3570C= (p.Asp1190=) c.1080C= (p.Asp360=) n.4995C= | |
10 | g.71740890C>G | CA377160557 | CDH23 | c.4557C>G (p.Asp1519Glu) c.4572C>G (p.Asp1524Glu) n.1246C>G c.4752C>G (p.Asp1584Glu) c.4686C>G (p.Asp1562Glu) c.4749C>G (p.Asp1583Glu) c.4746C>G (p.Asp1582Glu) c.4692C>G (p.Asp1564Glu) c.4617C>G (p.Asp1539Glu) c.4212C>G (p.Asp1404Glu) c.3570C>G (p.Asp1190Glu) c.1080C>G (p.Asp360Glu) n.4995C>G | |
10 | g.71740890C>T | CA209486322 | CDH23 | c.4557C>T (p.Asp1519=) c.4572C>T (p.Asp1524=) n.1246C>T c.4752C>T (p.Asp1584=) c.4686C>T (p.Asp1562=) c.4749C>T (p.Asp1583=) c.4746C>T (p.Asp1582=) c.4692C>T (p.Asp1564=) c.4617C>T (p.Asp1539=) c.4212C>T (p.Asp1404=) c.3570C>T (p.Asp1190=) c.1080C>T (p.Asp360=) n.4995C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740891A>C | CA377160567 | CDH23 | c.4558A>C (p.Ile1520Leu) c.4573A>C (p.Ile1525Leu) n.1247A>C c.4753A>C (p.Ile1585Leu) c.4687A>C (p.Ile1563Leu) c.4750A>C (p.Ile1584Leu) c.4747A>C (p.Ile1583Leu) c.4693A>C (p.Ile1565Leu) c.4618A>C (p.Ile1540Leu) c.4213A>C (p.Ile1405Leu) c.3571A>C (p.Ile1191Leu) c.1081A>C (p.Ile361Leu) n.4996A>C | |
10 | g.71740891A>G | CA377160566 | CDH23 | c.4558A>G (p.Ile1520Val) c.4573A>G (p.Ile1525Val) n.1247A>G c.4753A>G (p.Ile1585Val) c.4687A>G (p.Ile1563Val) c.4750A>G (p.Ile1584Val) c.4747A>G (p.Ile1583Val) c.4693A>G (p.Ile1565Val) c.4618A>G (p.Ile1540Val) c.4213A>G (p.Ile1405Val) c.3571A>G (p.Ile1191Val) c.1081A>G (p.Ile361Val) n.4996A>G | |
10 | g.71740891A>T | CA377160564 | CDH23 | c.4558A>T (p.Ile1520Phe) c.4573A>T (p.Ile1525Phe) n.1247A>T c.4753A>T (p.Ile1585Phe) c.4687A>T (p.Ile1563Phe) c.4750A>T (p.Ile1584Phe) c.4747A>T (p.Ile1583Phe) c.4693A>T (p.Ile1565Phe) c.4618A>T (p.Ile1540Phe) c.4213A>T (p.Ile1405Phe) c.3571A>T (p.Ile1191Phe) c.1081A>T (p.Ile361Phe) n.4996A>T | |
10 | g.71740892T>A | CA377160568 | CDH23 | c.4559T>A (p.Ile1520Asn) c.4574T>A (p.Ile1525Asn) n.1248T>A c.4754T>A (p.Ile1585Asn) c.4688T>A (p.Ile1563Asn) c.4751T>A (p.Ile1584Asn) c.4748T>A (p.Ile1583Asn) c.4694T>A (p.Ile1565Asn) c.4619T>A (p.Ile1540Asn) c.4214T>A (p.Ile1405Asn) c.3572T>A (p.Ile1191Asn) c.1082T>A (p.Ile361Asn) n.4997T>A | |
10 | g.71740892T>C | CA377160570 | CDH23 | c.4559T>C (p.Ile1520Thr) c.4574T>C (p.Ile1525Thr) n.1248T>C c.4754T>C (p.Ile1585Thr) c.4688T>C (p.Ile1563Thr) c.4751T>C (p.Ile1584Thr) c.4748T>C (p.Ile1583Thr) c.4694T>C (p.Ile1565Thr) c.4619T>C (p.Ile1540Thr) c.4214T>C (p.Ile1405Thr) c.3572T>C (p.Ile1191Thr) c.1082T>C (p.Ile361Thr) n.4997T>C | |
10 | g.71740892T>G | CA377160569 | CDH23 | c.4559T>G (p.Ile1520Ser) c.4574T>G (p.Ile1525Ser) n.1248T>G c.4754T>G (p.Ile1585Ser) c.4688T>G (p.Ile1563Ser) c.4751T>G (p.Ile1584Ser) c.4748T>G (p.Ile1583Ser) c.4694T>G (p.Ile1565Ser) c.4619T>G (p.Ile1540Ser) c.4214T>G (p.Ile1405Ser) c.3572T>G (p.Ile1191Ser) c.1082T>G (p.Ile361Ser) n.4997T>G | |
10 | g.71740893C>A | CA470069230 | CDH23 | c.4560C>A (p.Ile1520=) c.4575C>A (p.Ile1525=) n.1249C>A c.4755C>A (p.Ile1585=) c.4689C>A (p.Ile1563=) c.4752C>A (p.Ile1584=) c.4749C>A (p.Ile1583=) c.4695C>A (p.Ile1565=) c.4620C>A (p.Ile1540=) c.4215C>A (p.Ile1405=) c.3573C>A (p.Ile1191=) c.1083C>A (p.Ile361=) n.4998C>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740893C= | CA1918853856 | CDH23 | c.4560C= (p.Ile1520=) c.4575C= (p.Ile1525=) n.1249C= c.4755C= (p.Ile1585=) c.4689C= (p.Ile1563=) c.4752C= (p.Ile1584=) c.4749C= (p.Ile1583=) c.4695C= (p.Ile1565=) c.4620C= (p.Ile1540=) c.4215C= (p.Ile1405=) c.3573C= (p.Ile1191=) c.1083C= (p.Ile361=) n.4998C= | |
10 | g.71740893C>G | CA377160571 | CDH23 | c.4560C>G (p.Ile1520Met) c.4575C>G (p.Ile1525Met) n.1249C>G c.4755C>G (p.Ile1585Met) c.4689C>G (p.Ile1563Met) c.4752C>G (p.Ile1584Met) c.4749C>G (p.Ile1583Met) c.4695C>G (p.Ile1565Met) c.4620C>G (p.Ile1540Met) c.4215C>G (p.Ile1405Met) c.3573C>G (p.Ile1191Met) c.1083C>G (p.Ile361Met) n.4998C>G | |
10 | g.71740893C>T | CA470069231 | CDH23 | c.4560C>T (p.Ile1520=) c.4575C>T (p.Ile1525=) n.1249C>T c.4755C>T (p.Ile1585=) c.4689C>T (p.Ile1563=) c.4752C>T (p.Ile1584=) c.4749C>T (p.Ile1583=) c.4695C>T (p.Ile1565=) c.4620C>T (p.Ile1540=) c.4215C>T (p.Ile1405=) c.3573C>T (p.Ile1191=) c.1083C>T (p.Ile361=) n.4998C>T | |
10 | g.71740894A>C | CA377160573 | CDH23 | c.4561A>C (p.Asn1521His) c.4576A>C (p.Asn1526His) n.1250A>C c.4756A>C (p.Asn1586His) c.4690A>C (p.Asn1564His) c.4753A>C (p.Asn1585His) c.4750A>C (p.Asn1584His) c.4696A>C (p.Asn1566His) c.4621A>C (p.Asn1541His) c.4216A>C (p.Asn1406His) c.3574A>C (p.Asn1192His) c.1084A>C (p.Asn362His) n.4999A>C | |
10 | g.71740894A>G | CA377160576 | CDH23 | c.4561A>G (p.Asn1521Asp) c.4576A>G (p.Asn1526Asp) n.1250A>G c.4756A>G (p.Asn1586Asp) c.4690A>G (p.Asn1564Asp) c.4753A>G (p.Asn1585Asp) c.4750A>G (p.Asn1584Asp) c.4696A>G (p.Asn1566Asp) c.4621A>G (p.Asn1541Asp) c.4216A>G (p.Asn1406Asp) c.3574A>G (p.Asn1192Asp) c.1084A>G (p.Asn362Asp) n.4999A>G | COSMIC |
10 | g.71740894A>T | CA377160579 | CDH23 | c.4561A>T (p.Asn1521Tyr) c.4576A>T (p.Asn1526Tyr) n.1250A>T c.4756A>T (p.Asn1586Tyr) c.4690A>T (p.Asn1564Tyr) c.4753A>T (p.Asn1585Tyr) c.4750A>T (p.Asn1584Tyr) c.4696A>T (p.Asn1566Tyr) c.4621A>T (p.Asn1541Tyr) c.4216A>T (p.Asn1406Tyr) c.3574A>T (p.Asn1192Tyr) c.1084A>T (p.Asn362Tyr) n.4999A>T | |
10 | g.71740895A= | CA1918853857 | CDH23 | c.4562A= (p.Asn1521=) c.4577A= (p.Asn1526=) n.1251A= c.4757A= (p.Asn1586=) c.4691A= (p.Asn1564=) c.4754A= (p.Asn1585=) c.4751A= (p.Asn1584=) c.4697A= (p.Asn1566=) c.4622A= (p.Asn1541=) c.4217A= (p.Asn1406=) c.3575A= (p.Asn1192=) c.1085A= (p.Asn362=) n.5000A= | |
10 | g.71740895A>C | CA377160580 | CDH23 | c.4562A>C (p.Asn1521Thr) c.4577A>C (p.Asn1526Thr) n.1251A>C c.4757A>C (p.Asn1586Thr) c.4691A>C (p.Asn1564Thr) c.4754A>C (p.Asn1585Thr) c.4751A>C (p.Asn1584Thr) c.4697A>C (p.Asn1566Thr) c.4622A>C (p.Asn1541Thr) c.4217A>C (p.Asn1406Thr) c.3575A>C (p.Asn1192Thr) c.1085A>C (p.Asn362Thr) n.5000A>C | |
10 | g.71740895A>G | CA5545092 | CDH23 | c.4562A>G (p.Asn1521Ser) c.4577A>G (p.Asn1526Ser) n.1251A>G c.4757A>G (p.Asn1586Ser) c.4691A>G (p.Asn1564Ser) c.4754A>G (p.Asn1585Ser) c.4751A>G (p.Asn1584Ser) c.4697A>G (p.Asn1566Ser) c.4622A>G (p.Asn1541Ser) c.4217A>G (p.Asn1406Ser) c.3575A>G (p.Asn1192Ser) c.1085A>G (p.Asn362Ser) n.5000A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740895A>T | CA377160583 | CDH23 | c.4562A>T (p.Asn1521Ile) c.4577A>T (p.Asn1526Ile) n.1251A>T c.4757A>T (p.Asn1586Ile) c.4691A>T (p.Asn1564Ile) c.4754A>T (p.Asn1585Ile) c.4751A>T (p.Asn1584Ile) c.4697A>T (p.Asn1566Ile) c.4622A>T (p.Asn1541Ile) c.4217A>T (p.Asn1406Ile) c.3575A>T (p.Asn1192Ile) c.1085A>T (p.Asn362Ile) n.5000A>T | |
10 | g.71740896T>A | CA377160587 | CDH23 | c.4563T>A (p.Asn1521Lys) c.4578T>A (p.Asn1526Lys) n.1252T>A c.4758T>A (p.Asn1586Lys) c.4692T>A (p.Asn1564Lys) c.4755T>A (p.Asn1585Lys) c.4752T>A (p.Asn1584Lys) c.4698T>A (p.Asn1566Lys) c.4623T>A (p.Asn1541Lys) c.4218T>A (p.Asn1406Lys) c.3576T>A (p.Asn1192Lys) c.1086T>A (p.Asn362Lys) n.5001T>A | |
10 | g.71740896T>C | CA470069232 | CDH23 | c.4563T>C (p.Asn1521=) c.4578T>C (p.Asn1526=) n.1252T>C c.4758T>C (p.Asn1586=) c.4692T>C (p.Asn1564=) c.4755T>C (p.Asn1585=) c.4752T>C (p.Asn1584=) c.4698T>C (p.Asn1566=) c.4623T>C (p.Asn1541=) c.4218T>C (p.Asn1406=) c.3576T>C (p.Asn1192=) c.1086T>C (p.Asn362=) n.5001T>C | |
10 | g.71740896T>G | CA377160589 | CDH23 | c.4563T>G (p.Asn1521Lys) c.4578T>G (p.Asn1526Lys) n.1252T>G c.4758T>G (p.Asn1586Lys) c.4692T>G (p.Asn1564Lys) c.4755T>G (p.Asn1585Lys) c.4752T>G (p.Asn1584Lys) c.4698T>G (p.Asn1566Lys) c.4623T>G (p.Asn1541Lys) c.4218T>G (p.Asn1406Lys) c.3576T>G (p.Asn1192Lys) c.1086T>G (p.Asn362Lys) n.5001T>G | |
10 | g.71740897G>A | CA377160591 | CDH23 | c.4564G>A (p.Asp1522Asn) c.4579G>A (p.Asp1527Asn) n.1253G>A c.4759G>A (p.Asp1587Asn) c.4693G>A (p.Asp1565Asn) c.4756G>A (p.Asp1586Asn) c.4753G>A (p.Asp1585Asn) c.4699G>A (p.Asp1567Asn) c.4624G>A (p.Asp1542Asn) c.4219G>A (p.Asp1407Asn) c.3577G>A (p.Asp1193Asn) c.1087G>A (p.Asp363Asn) n.5002G>A | |
10 | g.71740897G>C | CA377160593 | CDH23 | c.4564G>C (p.Asp1522His) c.4579G>C (p.Asp1527His) n.1253G>C c.4759G>C (p.Asp1587His) c.4693G>C (p.Asp1565His) c.4756G>C (p.Asp1586His) c.4753G>C (p.Asp1585His) c.4699G>C (p.Asp1567His) c.4624G>C (p.Asp1542His) c.4219G>C (p.Asp1407His) c.3577G>C (p.Asp1193His) c.1087G>C (p.Asp363His) n.5002G>C | |
10 | g.71740897G>T | CA377160595 | CDH23 | c.4564G>T (p.Asp1522Tyr) c.4579G>T (p.Asp1527Tyr) n.1253G>T c.4759G>T (p.Asp1587Tyr) c.4693G>T (p.Asp1565Tyr) c.4756G>T (p.Asp1586Tyr) c.4753G>T (p.Asp1585Tyr) c.4699G>T (p.Asp1567Tyr) c.4624G>T (p.Asp1542Tyr) c.4219G>T (p.Asp1407Tyr) c.3577G>T (p.Asp1193Tyr) c.1087G>T (p.Asp363Tyr) n.5002G>T | |
10 | g.71740898A>C | CA377160597 | CDH23 | c.4565A>C (p.Asp1522Ala) c.4580A>C (p.Asp1527Ala) n.1254A>C c.4760A>C (p.Asp1587Ala) c.4694A>C (p.Asp1565Ala) c.4757A>C (p.Asp1586Ala) c.4754A>C (p.Asp1585Ala) c.4700A>C (p.Asp1567Ala) c.4625A>C (p.Asp1542Ala) c.4220A>C (p.Asp1407Ala) c.3578A>C (p.Asp1193Ala) c.1088A>C (p.Asp363Ala) n.5003A>C | |
10 | g.71740898A>G | CA377160601 | CDH23 | c.4565A>G (p.Asp1522Gly) c.4580A>G (p.Asp1527Gly) n.1254A>G c.4760A>G (p.Asp1587Gly) c.4694A>G (p.Asp1565Gly) c.4757A>G (p.Asp1586Gly) c.4754A>G (p.Asp1585Gly) c.4700A>G (p.Asp1567Gly) c.4625A>G (p.Asp1542Gly) c.4220A>G (p.Asp1407Gly) c.3578A>G (p.Asp1193Gly) c.1088A>G (p.Asp363Gly) n.5003A>G | gnomAD v4 |
10 | g.71740898A>T | CA377160599 | CDH23 | c.4565A>T (p.Asp1522Val) c.4580A>T (p.Asp1527Val) n.1254A>T c.4760A>T (p.Asp1587Val) c.4694A>T (p.Asp1565Val) c.4757A>T (p.Asp1586Val) c.4754A>T (p.Asp1585Val) c.4700A>T (p.Asp1567Val) c.4625A>T (p.Asp1542Val) c.4220A>T (p.Asp1407Val) c.3578A>T (p.Asp1193Val) c.1088A>T (p.Asp363Val) n.5003A>T | ClinVar |
10 | g.71740899C>A | CA377160604 | CDH23 | c.4566C>A (p.Asp1522Glu) c.4581C>A (p.Asp1527Glu) n.1255C>A c.4761C>A (p.Asp1587Glu) c.4695C>A (p.Asp1565Glu) c.4758C>A (p.Asp1586Glu) c.4755C>A (p.Asp1585Glu) c.4701C>A (p.Asp1567Glu) c.4626C>A (p.Asp1542Glu) c.4221C>A (p.Asp1407Glu) c.3579C>A (p.Asp1193Glu) c.1089C>A (p.Asp363Glu) n.5004C>A | |
10 | g.71740899C= | CA1918853858 | CDH23 | c.4566C= (p.Asp1522=) c.4581C= (p.Asp1527=) n.1255C= c.4761C= (p.Asp1587=) c.4695C= (p.Asp1565=) c.4758C= (p.Asp1586=) c.4755C= (p.Asp1585=) c.4701C= (p.Asp1567=) c.4626C= (p.Asp1542=) c.4221C= (p.Asp1407=) c.3579C= (p.Asp1193=) c.1089C= (p.Asp363=) n.5004C= | |
10 | g.71740899C>G | CA377160605 | CDH23 | c.4566C>G (p.Asp1522Glu) c.4581C>G (p.Asp1527Glu) n.1255C>G c.4761C>G (p.Asp1587Glu) c.4695C>G (p.Asp1565Glu) c.4758C>G (p.Asp1586Glu) c.4755C>G (p.Asp1585Glu) c.4701C>G (p.Asp1567Glu) c.4626C>G (p.Asp1542Glu) c.4221C>G (p.Asp1407Glu) c.3579C>G (p.Asp1193Glu) c.1089C>G (p.Asp363Glu) n.5004C>G | |
10 | g.71740899C>T | CA470069233 | CDH23 | c.4566C>T (p.Asp1522=) c.4581C>T (p.Asp1527=) n.1255C>T c.4761C>T (p.Asp1587=) c.4695C>T (p.Asp1565=) c.4758C>T (p.Asp1586=) c.4755C>T (p.Asp1585=) c.4701C>T (p.Asp1567=) c.4626C>T (p.Asp1542=) c.4221C>T (p.Asp1407=) c.3579C>T (p.Asp1193=) c.1089C>T (p.Asp363=) n.5004C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71740900A= | CA1918853859 | CDH23 | c.4567A= (p.Asn1523=) c.4582A= (p.Asn1528=) n.1256A= c.4762A= (p.Asn1588=) c.4696A= (p.Asn1566=) c.4759A= (p.Asn1587=) c.4756A= (p.Asn1586=) c.4702A= (p.Asn1568=) c.4627A= (p.Asn1543=) c.4222A= (p.Asn1408=) c.3580A= (p.Asn1194=) c.1090A= (p.Asn364=) n.5005A= | |
10 | g.71740900A>C | CA377160608 | CDH23 | c.4567A>C (p.Asn1523His) c.4582A>C (p.Asn1528His) n.1256A>C c.4762A>C (p.Asn1588His) c.4696A>C (p.Asn1566His) c.4759A>C (p.Asn1587His) c.4756A>C (p.Asn1586His) c.4702A>C (p.Asn1568His) c.4627A>C (p.Asn1543His) c.4222A>C (p.Asn1408His) c.3580A>C (p.Asn1194His) c.1090A>C (p.Asn364His) n.5005A>C | |
10 | g.71740900A>G | CA5545093 | CDH23 | c.4567A>G (p.Asn1523Asp) c.4582A>G (p.Asn1528Asp) n.1256A>G c.4762A>G (p.Asn1588Asp) c.4696A>G (p.Asn1566Asp) c.4759A>G (p.Asn1587Asp) c.4756A>G (p.Asn1586Asp) c.4702A>G (p.Asn1568Asp) c.4627A>G (p.Asn1543Asp) c.4222A>G (p.Asn1408Asp) c.3580A>G (p.Asn1194Asp) c.1090A>G (p.Asn364Asp) n.5005A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740900A>T | CA377160611 | CDH23 | c.4567A>T (p.Asn1523Tyr) c.4582A>T (p.Asn1528Tyr) n.1256A>T c.4762A>T (p.Asn1588Tyr) c.4696A>T (p.Asn1566Tyr) c.4759A>T (p.Asn1587Tyr) c.4756A>T (p.Asn1586Tyr) c.4702A>T (p.Asn1568Tyr) c.4627A>T (p.Asn1543Tyr) c.4222A>T (p.Asn1408Tyr) c.3580A>T (p.Asn1194Tyr) c.1090A>T (p.Asn364Tyr) n.5005A>T | |
10 | g.71740900_71740904delinsAACCC | CA1918853860 | CDH23 | c.4567_4571delinsAACCC (p.Asn1523=) c.4582_4586delinsAACCC (p.Asn1528=) n.1256_1260delinsAACCC c.4762_4766delinsAACCC (p.Asn1588=) c.4696_4700delinsAACCC (p.Asn1566=) c.4759_4763delinsAACCC (p.Asn1587=) c.4756_4760delinsAACCC (p.Asn1586=) c.4702_4706delinsAACCC (p.Asn1568=) c.4627_4631delinsAACCC (p.Asn1543=) c.4222_4226delinsAACCC (p.Asn1408=) c.3580_3584delinsAACCC (p.Asn1194=) c.1090_1094delinsAACCC (p.Asn364=) n.5005_5009delinsAACCC | |
10 | g.71740901A>C | CA377160613 | CDH23 | c.4568A>C (p.Asn1523Thr) c.4583A>C (p.Asn1528Thr) n.1257A>C c.4763A>C (p.Asn1588Thr) c.4697A>C (p.Asn1566Thr) c.4760A>C (p.Asn1587Thr) c.4757A>C (p.Asn1586Thr) c.4703A>C (p.Asn1568Thr) c.4628A>C (p.Asn1543Thr) c.4223A>C (p.Asn1408Thr) c.3581A>C (p.Asn1194Thr) c.1091A>C (p.Asn364Thr) n.5006A>C | |
10 | g.71740901A>G | CA377160615 | CDH23 | c.4568A>G (p.Asn1523Ser) c.4583A>G (p.Asn1528Ser) n.1257A>G c.4763A>G (p.Asn1588Ser) c.4697A>G (p.Asn1566Ser) c.4760A>G (p.Asn1587Ser) c.4757A>G (p.Asn1586Ser) c.4703A>G (p.Asn1568Ser) c.4628A>G (p.Asn1543Ser) c.4223A>G (p.Asn1408Ser) c.3581A>G (p.Asn1194Ser) c.1091A>G (p.Asn364Ser) n.5006A>G | |
10 | g.71740901A>T | CA377160617 | CDH23 | c.4568A>T (p.Asn1523Ile) c.4583A>T (p.Asn1528Ile) n.1257A>T c.4763A>T (p.Asn1588Ile) c.4697A>T (p.Asn1566Ile) c.4760A>T (p.Asn1587Ile) c.4757A>T (p.Asn1586Ile) c.4703A>T (p.Asn1568Ile) c.4628A>T (p.Asn1543Ile) c.4223A>T (p.Asn1408Ile) c.3581A>T (p.Asn1194Ile) c.1091A>T (p.Asn364Ile) n.5006A>T | gnomAD v4 |
10 | g.71740901_71740904del | CA594323986 | CDH23 | c.4568_4571del (p.Asn1523IlefsTer14) c.4583_4586del (p.Asn1528IlefsTer14) n.1257_1260del c.4763_4766del (p.Asn1588IlefsTer14) c.4697_4700del (p.Asn1566IlefsTer14) c.4760_4763del (p.Asn1587IlefsTer14) c.4757_4760del (p.Asn1586IlefsTer14) c.4703_4706del (p.Asn1568IlefsTer14) c.4628_4631del (p.Asn1543IlefsTer14) c.4223_4226del (p.Asn1408IlefsTer14) c.3581_3584del (p.Asn1194IlefsTer14) c.1091_1094del (p.Asn364IlefsTer14) n.5006_5009del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740902C>A | CA377160619 | CDH23 | c.4569C>A (p.Asn1523Lys) c.4584C>A (p.Asn1528Lys) n.1258C>A c.4764C>A (p.Asn1588Lys) c.4698C>A (p.Asn1566Lys) c.4761C>A (p.Asn1587Lys) c.4758C>A (p.Asn1586Lys) c.4704C>A (p.Asn1568Lys) c.4629C>A (p.Asn1543Lys) c.4224C>A (p.Asn1408Lys) c.3582C>A (p.Asn1194Lys) c.1092C>A (p.Asn364Lys) n.5007C>A | |
10 | g.71740902C>G | CA377160621 | CDH23 | c.4569C>G (p.Asn1523Lys) c.4584C>G (p.Asn1528Lys) n.1258C>G c.4764C>G (p.Asn1588Lys) c.4698C>G (p.Asn1566Lys) c.4761C>G (p.Asn1587Lys) c.4758C>G (p.Asn1586Lys) c.4704C>G (p.Asn1568Lys) c.4629C>G (p.Asn1543Lys) c.4224C>G (p.Asn1408Lys) c.3582C>G (p.Asn1194Lys) c.1092C>G (p.Asn364Lys) n.5007C>G | |
10 | g.71740902C>T | CA470069235 | CDH23 | c.4569C>T (p.Asn1523=) c.4584C>T (p.Asn1528=) n.1258C>T c.4764C>T (p.Asn1588=) c.4698C>T (p.Asn1566=) c.4761C>T (p.Asn1587=) c.4758C>T (p.Asn1586=) c.4704C>T (p.Asn1568=) c.4629C>T (p.Asn1543=) c.4224C>T (p.Asn1408=) c.3582C>T (p.Asn1194=) c.1092C>T (p.Asn364=) n.5007C>T | |
10 | g.71740904del | CA2843744664 | CDH23 | c.4571del (p.Pro1524LeufsTer14) c.4586del (p.Pro1529LeufsTer14) n.1260del c.4766del (p.Pro1589LeufsTer14) c.4700del (p.Pro1567LeufsTer14) c.4763del (p.Pro1588LeufsTer14) c.4760del (p.Pro1587LeufsTer14) c.4706del (p.Pro1569LeufsTer14) c.4631del (p.Pro1544LeufsTer14) c.4226del (p.Pro1409LeufsTer14) c.3584del (p.Pro1195LeufsTer14) c.1094del (p.Pro365LeufsTer14) n.5009del | |
10 | g.71740903C>A | CA377160624 | CDH23 | c.4570C>A (p.Pro1524Thr) c.4585C>A (p.Pro1529Thr) n.1259C>A c.4765C>A (p.Pro1589Thr) c.4699C>A (p.Pro1567Thr) c.4762C>A (p.Pro1588Thr) c.4759C>A (p.Pro1587Thr) c.4705C>A (p.Pro1569Thr) c.4630C>A (p.Pro1544Thr) c.4225C>A (p.Pro1409Thr) c.3583C>A (p.Pro1195Thr) c.1093C>A (p.Pro365Thr) n.5008C>A | dbSNP |
10 | g.71740903C= | CA1918853861 | CDH23 | c.4570C= (p.Pro1524=) c.4585C= (p.Pro1529=) n.1259C= c.4765C= (p.Pro1589=) c.4699C= (p.Pro1567=) c.4762C= (p.Pro1588=) c.4759C= (p.Pro1587=) c.4705C= (p.Pro1569=) c.4630C= (p.Pro1544=) c.4225C= (p.Pro1409=) c.3583C= (p.Pro1195=) c.1093C= (p.Pro365=) n.5008C= | |
10 | g.71740903C>G | CA377160626 | CDH23 | c.4570C>G (p.Pro1524Ala) c.4585C>G (p.Pro1529Ala) n.1259C>G c.4765C>G (p.Pro1589Ala) c.4699C>G (p.Pro1567Ala) c.4762C>G (p.Pro1588Ala) c.4759C>G (p.Pro1587Ala) c.4705C>G (p.Pro1569Ala) c.4630C>G (p.Pro1544Ala) c.4225C>G (p.Pro1409Ala) c.3583C>G (p.Pro1195Ala) c.1093C>G (p.Pro365Ala) n.5008C>G | gnomAD v4 |
10 | g.71740903C>T | CA377160622 | CDH23 | c.4570C>T (p.Pro1524Ser) c.4585C>T (p.Pro1529Ser) n.1259C>T c.4765C>T (p.Pro1589Ser) c.4699C>T (p.Pro1567Ser) c.4762C>T (p.Pro1588Ser) c.4759C>T (p.Pro1587Ser) c.4705C>T (p.Pro1569Ser) c.4630C>T (p.Pro1544Ser) c.4225C>T (p.Pro1409Ser) c.3583C>T (p.Pro1195Ser) c.1093C>T (p.Pro365Ser) n.5008C>T | |
10 | g.71740904C>A | CA377160628 | CDH23 | c.4571C>A (p.Pro1524His) c.4586C>A (p.Pro1529His) n.1260C>A c.4766C>A (p.Pro1589His) c.4700C>A (p.Pro1567His) c.4763C>A (p.Pro1588His) c.4760C>A (p.Pro1587His) c.4706C>A (p.Pro1569His) c.4631C>A (p.Pro1544His) c.4226C>A (p.Pro1409His) c.3584C>A (p.Pro1195His) c.1094C>A (p.Pro365His) n.5009C>A | |
10 | g.71740904C= | CA1918853862 | CDH23 | c.4571C= (p.Pro1524=) c.4586C= (p.Pro1529=) n.1260C= c.4766C= (p.Pro1589=) c.4700C= (p.Pro1567=) c.4763C= (p.Pro1588=) c.4760C= (p.Pro1587=) c.4706C= (p.Pro1569=) c.4631C= (p.Pro1544=) c.4226C= (p.Pro1409=) c.3584C= (p.Pro1195=) c.1094C= (p.Pro365=) n.5009C= | |
10 | g.71740904C>G | CA377160630 | CDH23 | c.4571C>G (p.Pro1524Arg) c.4586C>G (p.Pro1529Arg) n.1260C>G c.4766C>G (p.Pro1589Arg) c.4700C>G (p.Pro1567Arg) c.4763C>G (p.Pro1588Arg) c.4760C>G (p.Pro1587Arg) c.4706C>G (p.Pro1569Arg) c.4631C>G (p.Pro1544Arg) c.4226C>G (p.Pro1409Arg) c.3584C>G (p.Pro1195Arg) c.1094C>G (p.Pro365Arg) n.5009C>G | ClinVar dbSNP |
10 | g.71740904C>T | CA377160631 | CDH23 | c.4571C>T (p.Pro1524Leu) c.4586C>T (p.Pro1529Leu) n.1260C>T c.4766C>T (p.Pro1589Leu) c.4700C>T (p.Pro1567Leu) c.4763C>T (p.Pro1588Leu) c.4760C>T (p.Pro1587Leu) c.4706C>T (p.Pro1569Leu) c.4631C>T (p.Pro1544Leu) c.4226C>T (p.Pro1409Leu) c.3584C>T (p.Pro1195Leu) c.1094C>T (p.Pro365Leu) n.5009C>T | dbSNP gnomAD v4 |
10 | g.71740905T>A | CA470069237 | CDH23 | c.4572T>A (p.Pro1524=) c.4587T>A (p.Pro1529=) n.1261T>A c.4767T>A (p.Pro1589=) c.4701T>A (p.Pro1567=) c.4764T>A (p.Pro1588=) c.4761T>A (p.Pro1587=) c.4707T>A (p.Pro1569=) c.4632T>A (p.Pro1544=) c.4227T>A (p.Pro1409=) c.3585T>A (p.Pro1195=) c.1095T>A (p.Pro365=) n.5010T>A | |
10 | g.71740905T>C | CA470069239 | CDH23 | c.4572T>C (p.Pro1524=) c.4587T>C (p.Pro1529=) n.1261T>C c.4767T>C (p.Pro1589=) c.4701T>C (p.Pro1567=) c.4764T>C (p.Pro1588=) c.4761T>C (p.Pro1587=) c.4707T>C (p.Pro1569=) c.4632T>C (p.Pro1544=) c.4227T>C (p.Pro1409=) c.3585T>C (p.Pro1195=) c.1095T>C (p.Pro365=) n.5010T>C | |
10 | g.71740905T>G | CA470069238 | CDH23 | c.4572T>G (p.Pro1524=) c.4587T>G (p.Pro1529=) n.1261T>G c.4767T>G (p.Pro1589=) c.4701T>G (p.Pro1567=) c.4764T>G (p.Pro1588=) c.4761T>G (p.Pro1587=) c.4707T>G (p.Pro1569=) c.4632T>G (p.Pro1544=) c.4227T>G (p.Pro1409=) c.3585T>G (p.Pro1195=) c.1095T>G (p.Pro365=) n.5010T>G | |
10 | g.71740906C>A | CA377160633 | CDH23 | c.4573C>A (p.Pro1525Thr) c.4588C>A (p.Pro1530Thr) n.1262C>A c.4768C>A (p.Pro1590Thr) c.4702C>A (p.Pro1568Thr) c.4765C>A (p.Pro1589Thr) c.4762C>A (p.Pro1588Thr) c.4708C>A (p.Pro1570Thr) c.4633C>A (p.Pro1545Thr) c.4228C>A (p.Pro1410Thr) c.3586C>A (p.Pro1196Thr) c.1096C>A (p.Pro366Thr) n.5011C>A | |
10 | g.71740906C= | CA1918853863 | CDH23 | c.4573C= (p.Pro1525=) c.4588C= (p.Pro1530=) n.1262C= c.4768C= (p.Pro1590=) c.4702C= (p.Pro1568=) c.4765C= (p.Pro1589=) c.4762C= (p.Pro1588=) c.4708C= (p.Pro1570=) c.4633C= (p.Pro1545=) c.4228C= (p.Pro1410=) c.3586C= (p.Pro1196=) c.1096C= (p.Pro366=) n.5011C= | |
10 | g.71740906C>G | CA377160635 | CDH23 | c.4573C>G (p.Pro1525Ala) c.4588C>G (p.Pro1530Ala) n.1262C>G c.4768C>G (p.Pro1590Ala) c.4702C>G (p.Pro1568Ala) c.4765C>G (p.Pro1589Ala) c.4762C>G (p.Pro1588Ala) c.4708C>G (p.Pro1570Ala) c.4633C>G (p.Pro1545Ala) c.4228C>G (p.Pro1410Ala) c.3586C>G (p.Pro1196Ala) c.1096C>G (p.Pro366Ala) n.5011C>G | |
10 | g.71740906C>T | CA377160637 | CDH23 | c.4573C>T (p.Pro1525Ser) c.4588C>T (p.Pro1530Ser) n.1262C>T c.4768C>T (p.Pro1590Ser) c.4702C>T (p.Pro1568Ser) c.4765C>T (p.Pro1589Ser) c.4762C>T (p.Pro1588Ser) c.4708C>T (p.Pro1570Ser) c.4633C>T (p.Pro1545Ser) c.4228C>T (p.Pro1410Ser) c.3586C>T (p.Pro1196Ser) c.1096C>T (p.Pro366Ser) n.5011C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71740907C>A | CA377160639 | CDH23 | c.4574C>A (p.Pro1525Gln) c.4589C>A (p.Pro1530Gln) n.1263C>A c.4769C>A (p.Pro1590Gln) c.4703C>A (p.Pro1568Gln) c.4766C>A (p.Pro1589Gln) c.4763C>A (p.Pro1588Gln) c.4709C>A (p.Pro1570Gln) c.4634C>A (p.Pro1545Gln) c.4229C>A (p.Pro1410Gln) c.3587C>A (p.Pro1196Gln) c.1097C>A (p.Pro366Gln) n.5012C>A | |
10 | g.71740907C>G | CA377160641 | CDH23 | c.4574C>G (p.Pro1525Arg) c.4589C>G (p.Pro1530Arg) n.1263C>G c.4769C>G (p.Pro1590Arg) c.4703C>G (p.Pro1568Arg) c.4766C>G (p.Pro1589Arg) c.4763C>G (p.Pro1588Arg) c.4709C>G (p.Pro1570Arg) c.4634C>G (p.Pro1545Arg) c.4229C>G (p.Pro1410Arg) c.3587C>G (p.Pro1196Arg) c.1097C>G (p.Pro366Arg) n.5012C>G | dbSNP |
10 | g.71740907C>T | CA377160643 | CDH23 | c.4574C>T (p.Pro1525Leu) c.4589C>T (p.Pro1530Leu) n.1263C>T c.4769C>T (p.Pro1590Leu) c.4703C>T (p.Pro1568Leu) c.4766C>T (p.Pro1589Leu) c.4763C>T (p.Pro1588Leu) c.4709C>T (p.Pro1570Leu) c.4634C>T (p.Pro1545Leu) c.4229C>T (p.Pro1410Leu) c.3587C>T (p.Pro1196Leu) c.1097C>T (p.Pro366Leu) n.5012C>T | |
10 | g.71740908A>C | CA470069240 | CDH23 | c.4575A>C (p.Pro1525=) c.4590A>C (p.Pro1530=) n.1264A>C c.4770A>C (p.Pro1590=) c.4704A>C (p.Pro1568=) c.4767A>C (p.Pro1589=) c.4764A>C (p.Pro1588=) c.4710A>C (p.Pro1570=) c.4635A>C (p.Pro1545=) c.4230A>C (p.Pro1410=) c.3588A>C (p.Pro1196=) c.1098A>C (p.Pro366=) n.5013A>C | |
10 | g.71740908A>G | CA470069241 | CDH23 | c.4575A>G (p.Pro1525=) c.4590A>G (p.Pro1530=) n.1264A>G c.4770A>G (p.Pro1590=) c.4704A>G (p.Pro1568=) c.4767A>G (p.Pro1589=) c.4764A>G (p.Pro1588=) c.4710A>G (p.Pro1570=) c.4635A>G (p.Pro1545=) c.4230A>G (p.Pro1410=) c.3588A>G (p.Pro1196=) c.1098A>G (p.Pro366=) n.5013A>G | ClinVar |
10 | g.71740908A>T | CA470069242 | CDH23 | c.4575A>T (p.Pro1525=) c.4590A>T (p.Pro1530=) n.1264A>T c.4770A>T (p.Pro1590=) c.4704A>T (p.Pro1568=) c.4767A>T (p.Pro1589=) c.4764A>T (p.Pro1588=) c.4710A>T (p.Pro1570=) c.4635A>T (p.Pro1545=) c.4230A>T (p.Pro1410=) c.3588A>T (p.Pro1196=) c.1098A>T (p.Pro366=) n.5013A>T | |
10 | g.71740909G>A | CA377160644 | CDH23 | c.4576G>A (p.Val1526Ile) c.4591G>A (p.Val1531Ile) n.1265G>A c.4771G>A (p.Val1591Ile) c.4705G>A (p.Val1569Ile) c.4768G>A (p.Val1590Ile) c.4765G>A (p.Val1589Ile) c.4711G>A (p.Val1571Ile) c.4636G>A (p.Val1546Ile) c.4231G>A (p.Val1411Ile) c.3589G>A (p.Val1197Ile) c.1099G>A (p.Val367Ile) n.5014G>A | |
10 | g.71740909G>C | CA377160647 | CDH23 | c.4576G>C (p.Val1526Leu) c.4591G>C (p.Val1531Leu) n.1265G>C c.4771G>C (p.Val1591Leu) c.4705G>C (p.Val1569Leu) c.4768G>C (p.Val1590Leu) c.4765G>C (p.Val1589Leu) c.4711G>C (p.Val1571Leu) c.4636G>C (p.Val1546Leu) c.4231G>C (p.Val1411Leu) c.3589G>C (p.Val1197Leu) c.1099G>C (p.Val367Leu) n.5014G>C | |
10 | g.71740909G>T | CA377160648 | CDH23 | c.4576G>T (p.Val1526Phe) c.4591G>T (p.Val1531Phe) n.1265G>T c.4771G>T (p.Val1591Phe) c.4705G>T (p.Val1569Phe) c.4768G>T (p.Val1590Phe) c.4765G>T (p.Val1589Phe) c.4711G>T (p.Val1571Phe) c.4636G>T (p.Val1546Phe) c.4231G>T (p.Val1411Phe) c.3589G>T (p.Val1197Phe) c.1099G>T (p.Val367Phe) n.5014G>T | |
10 | g.71740910T>A | CA377160654 | CDH23 | c.4577T>A (p.Val1526Asp) c.4592T>A (p.Val1531Asp) n.1266T>A c.4772T>A (p.Val1591Asp) c.4706T>A (p.Val1569Asp) c.4769T>A (p.Val1590Asp) c.4766T>A (p.Val1589Asp) c.4712T>A (p.Val1571Asp) c.4637T>A (p.Val1546Asp) c.4232T>A (p.Val1411Asp) c.3590T>A (p.Val1197Asp) c.1100T>A (p.Val367Asp) n.5015T>A | |
10 | g.71740910T>C | CA377160655 | CDH23 | c.4577T>C (p.Val1526Ala) c.4592T>C (p.Val1531Ala) n.1266T>C c.4772T>C (p.Val1591Ala) c.4706T>C (p.Val1569Ala) c.4769T>C (p.Val1590Ala) c.4766T>C (p.Val1589Ala) c.4712T>C (p.Val1571Ala) c.4637T>C (p.Val1546Ala) c.4232T>C (p.Val1411Ala) c.3590T>C (p.Val1197Ala) c.1100T>C (p.Val367Ala) n.5015T>C | |
10 | g.71740910T>G | CA377160653 | CDH23 | c.4577T>G (p.Val1526Gly) c.4592T>G (p.Val1531Gly) n.1266T>G c.4772T>G (p.Val1591Gly) c.4706T>G (p.Val1569Gly) c.4769T>G (p.Val1590Gly) c.4766T>G (p.Val1589Gly) c.4712T>G (p.Val1571Gly) c.4637T>G (p.Val1546Gly) c.4232T>G (p.Val1411Gly) c.3590T>G (p.Val1197Gly) c.1100T>G (p.Val367Gly) n.5015T>G | |
10 | g.71740911C>A | CA470069243 | CDH23 | c.4578C>A (p.Val1526=) c.4593C>A (p.Val1531=) n.1267C>A c.4773C>A (p.Val1591=) c.4707C>A (p.Val1569=) c.4770C>A (p.Val1590=) c.4767C>A (p.Val1589=) c.4713C>A (p.Val1571=) c.4638C>A (p.Val1546=) c.4233C>A (p.Val1411=) c.3591C>A (p.Val1197=) c.1101C>A (p.Val367=) n.5016C>A | |
10 | g.71740911C>G | CA470069244 | CDH23 | c.4578C>G (p.Val1526=) c.4593C>G (p.Val1531=) n.1267C>G c.4773C>G (p.Val1591=) c.4707C>G (p.Val1569=) c.4770C>G (p.Val1590=) c.4767C>G (p.Val1589=) c.4713C>G (p.Val1571=) c.4638C>G (p.Val1546=) c.4233C>G (p.Val1411=) c.3591C>G (p.Val1197=) c.1101C>G (p.Val367=) n.5016C>G | |
10 | g.71740911C>T | CA470069245 | CDH23 | c.4578C>T (p.Val1526=) c.4593C>T (p.Val1531=) n.1267C>T c.4773C>T (p.Val1591=) c.4707C>T (p.Val1569=) c.4770C>T (p.Val1590=) c.4767C>T (p.Val1589=) c.4713C>T (p.Val1571=) c.4638C>T (p.Val1546=) c.4233C>T (p.Val1411=) c.3591C>T (p.Val1197=) c.1101C>T (p.Val367=) n.5016C>T | gnomAD v4 |
10 | g.71740912A= | CA1918853864 | CDH23 | c.4579A= (p.Ile1527=) c.4594A= (p.Ile1532=) n.1268A= c.4774A= (p.Ile1592=) c.4708A= (p.Ile1570=) c.4771A= (p.Ile1591=) c.4768A= (p.Ile1590=) c.4714A= (p.Ile1572=) c.4639A= (p.Ile1547=) c.4234A= (p.Ile1412=) c.3592A= (p.Ile1198=) c.1102A= (p.Ile368=) n.5017A= | |
10 | g.71740912A>C | CA377160658 | CDH23 | c.4579A>C (p.Ile1527Leu) c.4594A>C (p.Ile1532Leu) n.1268A>C c.4774A>C (p.Ile1592Leu) c.4708A>C (p.Ile1570Leu) c.4771A>C (p.Ile1591Leu) c.4768A>C (p.Ile1590Leu) c.4714A>C (p.Ile1572Leu) c.4639A>C (p.Ile1547Leu) c.4234A>C (p.Ile1412Leu) c.3592A>C (p.Ile1198Leu) c.1102A>C (p.Ile368Leu) n.5017A>C | |
10 | g.71740912A>G | CA377160660 | CDH23 | c.4579A>G (p.Ile1527Val) c.4594A>G (p.Ile1532Val) n.1268A>G c.4774A>G (p.Ile1592Val) c.4708A>G (p.Ile1570Val) c.4771A>G (p.Ile1591Val) c.4768A>G (p.Ile1590Val) c.4714A>G (p.Ile1572Val) c.4639A>G (p.Ile1547Val) c.4234A>G (p.Ile1412Val) c.3592A>G (p.Ile1198Val) c.1102A>G (p.Ile368Val) n.5017A>G | dbSNP gnomAD v4 |
10 | g.71740912A>T | CA377160661 | CDH23 | c.4579A>T (p.Ile1527Phe) c.4594A>T (p.Ile1532Phe) n.1268A>T c.4774A>T (p.Ile1592Phe) c.4708A>T (p.Ile1570Phe) c.4771A>T (p.Ile1591Phe) c.4768A>T (p.Ile1590Phe) c.4714A>T (p.Ile1572Phe) c.4639A>T (p.Ile1547Phe) c.4234A>T (p.Ile1412Phe) c.3592A>T (p.Ile1198Phe) c.1102A>T (p.Ile368Phe) n.5017A>T | |
10 | g.71740913T>A | CA377160663 | CDH23 | c.4580T>A (p.Ile1527Asn) c.4595T>A (p.Ile1532Asn) n.1269T>A c.4775T>A (p.Ile1592Asn) c.4709T>A (p.Ile1570Asn) c.4772T>A (p.Ile1591Asn) c.4769T>A (p.Ile1590Asn) c.4715T>A (p.Ile1572Asn) c.4640T>A (p.Ile1547Asn) c.4235T>A (p.Ile1412Asn) c.3593T>A (p.Ile1198Asn) c.1103T>A (p.Ile368Asn) n.5018T>A | |
10 | g.71740913T>C | CA377160665 | CDH23 | c.4580T>C (p.Ile1527Thr) c.4595T>C (p.Ile1532Thr) n.1269T>C c.4775T>C (p.Ile1592Thr) c.4709T>C (p.Ile1570Thr) c.4772T>C (p.Ile1591Thr) c.4769T>C (p.Ile1590Thr) c.4715T>C (p.Ile1572Thr) c.4640T>C (p.Ile1547Thr) c.4235T>C (p.Ile1412Thr) c.3593T>C (p.Ile1198Thr) c.1103T>C (p.Ile368Thr) n.5018T>C | |
10 | g.71740913T>G | CA377160666 | CDH23 | c.4580T>G (p.Ile1527Ser) c.4595T>G (p.Ile1532Ser) n.1269T>G c.4775T>G (p.Ile1592Ser) c.4709T>G (p.Ile1570Ser) c.4772T>G (p.Ile1591Ser) c.4769T>G (p.Ile1590Ser) c.4715T>G (p.Ile1572Ser) c.4640T>G (p.Ile1547Ser) c.4235T>G (p.Ile1412Ser) c.3593T>G (p.Ile1198Ser) c.1103T>G (p.Ile368Ser) n.5018T>G | |
10 | g.71740914C>A | CA470069246 | CDH23 | c.4581C>A (p.Ile1527=) c.4596C>A (p.Ile1532=) n.1270C>A c.4776C>A (p.Ile1592=) c.4710C>A (p.Ile1570=) c.4773C>A (p.Ile1591=) c.4770C>A (p.Ile1590=) c.4716C>A (p.Ile1572=) c.4641C>A (p.Ile1547=) c.4236C>A (p.Ile1412=) c.3594C>A (p.Ile1198=) c.1104C>A (p.Ile368=) n.5019C>A | |
10 | g.71740914C= | CA1918853865 | CDH23 | c.4581C= (p.Ile1527=) c.4596C= (p.Ile1532=) n.1270C= c.4776C= (p.Ile1592=) c.4710C= (p.Ile1570=) c.4773C= (p.Ile1591=) c.4770C= (p.Ile1590=) c.4716C= (p.Ile1572=) c.4641C= (p.Ile1547=) c.4236C= (p.Ile1412=) c.3594C= (p.Ile1198=) c.1104C= (p.Ile368=) n.5019C= | |
10 | g.71740914C>G | CA377160667 | CDH23 | c.4581C>G (p.Ile1527Met) c.4596C>G (p.Ile1532Met) n.1270C>G c.4776C>G (p.Ile1592Met) c.4710C>G (p.Ile1570Met) c.4773C>G (p.Ile1591Met) c.4770C>G (p.Ile1590Met) c.4716C>G (p.Ile1572Met) c.4641C>G (p.Ile1547Met) c.4236C>G (p.Ile1412Met) c.3594C>G (p.Ile1198Met) c.1104C>G (p.Ile368Met) n.5019C>G | |
10 | g.71740914C>T | CA5545094 | CDH23 | c.4581C>T (p.Ile1527=) c.4596C>T (p.Ile1532=) n.1270C>T c.4776C>T (p.Ile1592=) c.4710C>T (p.Ile1570=) c.4773C>T (p.Ile1591=) c.4770C>T (p.Ile1590=) c.4716C>T (p.Ile1572=) c.4641C>T (p.Ile1547=) c.4236C>T (p.Ile1412=) c.3594C>T (p.Ile1198=) c.1104C>T (p.Ile368=) n.5019C>T | ClinVar dbSNP ExAC gnomAD v4 |
10 | g.71740915G>A | CA5545095 | CDH23 | c.4582G>A (p.Glu1528Lys) c.4597G>A (p.Glu1533Lys) n.1271G>A c.4777G>A (p.Glu1593Lys) c.4711G>A (p.Glu1571Lys) c.4774G>A (p.Glu1592Lys) c.4771G>A (p.Glu1591Lys) c.4717G>A (p.Glu1573Lys) c.4642G>A (p.Glu1548Lys) c.4237G>A (p.Glu1413Lys) c.3595G>A (p.Glu1199Lys) c.1105G>A (p.Glu369Lys) n.5020G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740915G>C | CA377160669 | CDH23 | c.4582G>C (p.Glu1528Gln) c.4597G>C (p.Glu1533Gln) n.1271G>C c.4777G>C (p.Glu1593Gln) c.4711G>C (p.Glu1571Gln) c.4774G>C (p.Glu1592Gln) c.4771G>C (p.Glu1591Gln) c.4717G>C (p.Glu1573Gln) c.4642G>C (p.Glu1548Gln) c.4237G>C (p.Glu1413Gln) c.3595G>C (p.Glu1199Gln) c.1105G>C (p.Glu369Gln) n.5020G>C | |
10 | g.71740915G= | CA1918853866 | CDH23 | c.4582G= (p.Glu1528=) c.4597G= (p.Glu1533=) n.1271G= c.4777G= (p.Glu1593=) c.4711G= (p.Glu1571=) c.4774G= (p.Glu1592=) c.4771G= (p.Glu1591=) c.4717G= (p.Glu1573=) c.4642G= (p.Glu1548=) c.4237G= (p.Glu1413=) c.3595G= (p.Glu1199=) c.1105G= (p.Glu369=) n.5020G= | |
10 | g.71740915G>T | CA377160671 | CDH23 | c.4582G>T (p.Glu1528Ter) c.4597G>T (p.Glu1533Ter) n.1271G>T c.4777G>T (p.Glu1593Ter) c.4711G>T (p.Glu1571Ter) c.4774G>T (p.Glu1592Ter) c.4771G>T (p.Glu1591Ter) c.4717G>T (p.Glu1573Ter) c.4642G>T (p.Glu1548Ter) c.4237G>T (p.Glu1413Ter) c.3595G>T (p.Glu1199Ter) c.1105G>T (p.Glu369Ter) n.5020G>T | |
10 | g.71740916A>C | CA377160673 | CDH23 | c.4583A>C (p.Glu1528Ala) c.4598A>C (p.Glu1533Ala) n.1272A>C c.4778A>C (p.Glu1593Ala) c.4712A>C (p.Glu1571Ala) c.4775A>C (p.Glu1592Ala) c.4772A>C (p.Glu1591Ala) c.4718A>C (p.Glu1573Ala) c.4643A>C (p.Glu1548Ala) c.4238A>C (p.Glu1413Ala) c.3596A>C (p.Glu1199Ala) c.1106A>C (p.Glu369Ala) n.5021A>C | |
10 | g.71740916A>G | CA377160674 | CDH23 | c.4583A>G (p.Glu1528Gly) c.4598A>G (p.Glu1533Gly) n.1272A>G c.4778A>G (p.Glu1593Gly) c.4712A>G (p.Glu1571Gly) c.4775A>G (p.Glu1592Gly) c.4772A>G (p.Glu1591Gly) c.4718A>G (p.Glu1573Gly) c.4643A>G (p.Glu1548Gly) c.4238A>G (p.Glu1413Gly) c.3596A>G (p.Glu1199Gly) c.1106A>G (p.Glu369Gly) n.5021A>G | |
10 | g.71740916A>T | CA377160679 | CDH23 | c.4583A>T (p.Glu1528Val) c.4598A>T (p.Glu1533Val) n.1272A>T c.4778A>T (p.Glu1593Val) c.4712A>T (p.Glu1571Val) c.4775A>T (p.Glu1592Val) c.4772A>T (p.Glu1591Val) c.4718A>T (p.Glu1573Val) c.4643A>T (p.Glu1548Val) c.4238A>T (p.Glu1413Val) c.3596A>T (p.Glu1199Val) c.1106A>T (p.Glu369Val) n.5021A>T | |
10 | g.71740917G>A | CA470069247 | CDH23 | c.4584G>A (p.Glu1528=) c.4599G>A (p.Glu1533=) n.1273G>A c.4779G>A (p.Glu1593=) c.4713G>A (p.Glu1571=) c.4776G>A (p.Glu1592=) c.4773G>A (p.Glu1591=) c.4719G>A (p.Glu1573=) c.4644G>A (p.Glu1548=) c.4239G>A (p.Glu1413=) c.3597G>A (p.Glu1199=) c.1107G>A (p.Glu369=) n.5022G>A | ClinVar |
10 | g.71740917G>C | CA377160683 | CDH23 | c.4584G>C (p.Glu1528Asp) c.4599G>C (p.Glu1533Asp) n.1273G>C c.4779G>C (p.Glu1593Asp) c.4713G>C (p.Glu1571Asp) c.4776G>C (p.Glu1592Asp) c.4773G>C (p.Glu1591Asp) c.4719G>C (p.Glu1573Asp) c.4644G>C (p.Glu1548Asp) c.4239G>C (p.Glu1413Asp) c.3597G>C (p.Glu1199Asp) c.1107G>C (p.Glu369Asp) n.5022G>C | |
10 | g.71740917G>T | CA377160682 | CDH23 | c.4584G>T (p.Glu1528Asp) c.4599G>T (p.Glu1533Asp) n.1273G>T c.4779G>T (p.Glu1593Asp) c.4713G>T (p.Glu1571Asp) c.4776G>T (p.Glu1592Asp) c.4773G>T (p.Glu1591Asp) c.4719G>T (p.Glu1573Asp) c.4644G>T (p.Glu1548Asp) c.4239G>T (p.Glu1413Asp) c.3597G>T (p.Glu1199Asp) c.1107G>T (p.Glu369Asp) n.5022G>T | |
10 | g.71740918A>C | CA377160686 | CDH23 | c.4585A>C (p.Ser1529Arg) c.4600A>C (p.Ser1534Arg) n.1274A>C c.4780A>C (p.Ser1594Arg) c.4714A>C (p.Ser1572Arg) c.4777A>C (p.Ser1593Arg) c.4774A>C (p.Ser1592Arg) c.4720A>C (p.Ser1574Arg) c.4645A>C (p.Ser1549Arg) c.4240A>C (p.Ser1414Arg) c.3598A>C (p.Ser1200Arg) c.1108A>C (p.Ser370Arg) n.5023A>C | |
10 | g.71740918A>G | CA377160690 | CDH23 | c.4585A>G (p.Ser1529Gly) c.4600A>G (p.Ser1534Gly) n.1274A>G c.4780A>G (p.Ser1594Gly) c.4714A>G (p.Ser1572Gly) c.4777A>G (p.Ser1593Gly) c.4774A>G (p.Ser1592Gly) c.4720A>G (p.Ser1574Gly) c.4645A>G (p.Ser1549Gly) c.4240A>G (p.Ser1414Gly) c.3598A>G (p.Ser1200Gly) c.1108A>G (p.Ser370Gly) n.5023A>G | |
10 | g.71740918A>T | CA377160688 | CDH23 | c.4585A>T (p.Ser1529Cys) c.4600A>T (p.Ser1534Cys) n.1274A>T c.4780A>T (p.Ser1594Cys) c.4714A>T (p.Ser1572Cys) c.4777A>T (p.Ser1593Cys) c.4774A>T (p.Ser1592Cys) c.4720A>T (p.Ser1574Cys) c.4645A>T (p.Ser1549Cys) c.4240A>T (p.Ser1414Cys) c.3598A>T (p.Ser1200Cys) c.1108A>T (p.Ser370Cys) n.5023A>T | |
10 | g.71740919G>A | CA377160692 | CDH23 | c.4586G>A (p.Ser1529Asn) c.4601G>A (p.Ser1534Asn) n.1275G>A c.4781G>A (p.Ser1594Asn) c.4715G>A (p.Ser1572Asn) c.4778G>A (p.Ser1593Asn) c.4775G>A (p.Ser1592Asn) c.4721G>A (p.Ser1574Asn) c.4646G>A (p.Ser1549Asn) c.4241G>A (p.Ser1414Asn) c.3599G>A (p.Ser1200Asn) c.1109G>A (p.Ser370Asn) n.5024G>A | dbSNP gnomAD v4 |
10 | g.71740919G>C | CA377160695 | CDH23 | c.4586G>C (p.Ser1529Thr) c.4601G>C (p.Ser1534Thr) n.1275G>C c.4781G>C (p.Ser1594Thr) c.4715G>C (p.Ser1572Thr) c.4778G>C (p.Ser1593Thr) c.4775G>C (p.Ser1592Thr) c.4721G>C (p.Ser1574Thr) c.4646G>C (p.Ser1549Thr) c.4241G>C (p.Ser1414Thr) c.3599G>C (p.Ser1200Thr) c.1109G>C (p.Ser370Thr) n.5024G>C | gnomAD v4 |
10 | g.71740919G>T | CA377160694 | CDH23 | c.4586G>T (p.Ser1529Ile) c.4601G>T (p.Ser1534Ile) n.1275G>T c.4781G>T (p.Ser1594Ile) c.4715G>T (p.Ser1572Ile) c.4778G>T (p.Ser1593Ile) c.4775G>T (p.Ser1592Ile) c.4721G>T (p.Ser1574Ile) c.4646G>T (p.Ser1549Ile) c.4241G>T (p.Ser1414Ile) c.3599G>T (p.Ser1200Ile) c.1109G>T (p.Ser370Ile) n.5024G>T | |
10 | g.71740920C>A | CA377160697 | CDH23 | c.4587C>A (p.Ser1529Arg) c.4602C>A (p.Ser1534Arg) n.1276C>A c.4782C>A (p.Ser1594Arg) c.4716C>A (p.Ser1572Arg) c.4779C>A (p.Ser1593Arg) c.4776C>A (p.Ser1592Arg) c.4722C>A (p.Ser1574Arg) c.4647C>A (p.Ser1549Arg) c.4242C>A (p.Ser1414Arg) c.3600C>A (p.Ser1200Arg) c.1110C>A (p.Ser370Arg) n.5025C>A | |
10 | g.71740920C>G | CA377160699 | CDH23 | c.4587C>G (p.Ser1529Arg) c.4602C>G (p.Ser1534Arg) n.1276C>G c.4782C>G (p.Ser1594Arg) c.4716C>G (p.Ser1572Arg) c.4779C>G (p.Ser1593Arg) c.4776C>G (p.Ser1592Arg) c.4722C>G (p.Ser1574Arg) c.4647C>G (p.Ser1549Arg) c.4242C>G (p.Ser1414Arg) c.3600C>G (p.Ser1200Arg) c.1110C>G (p.Ser370Arg) n.5025C>G | |
10 | g.71740920C>T | CA470069248 | CDH23 | c.4587C>T (p.Ser1529=) c.4602C>T (p.Ser1534=) n.1276C>T c.4782C>T (p.Ser1594=) c.4716C>T (p.Ser1572=) c.4779C>T (p.Ser1593=) c.4776C>T (p.Ser1592=) c.4722C>T (p.Ser1574=) c.4647C>T (p.Ser1549=) c.4242C>T (p.Ser1414=) c.3600C>T (p.Ser1200=) c.1110C>T (p.Ser370=) n.5025C>T | |
10 | g.71740921C>A | CA377160700 | CDH23 | c.4588C>A (p.Pro1530Thr) c.4603C>A (p.Pro1535Thr) n.1277C>A c.4783C>A (p.Pro1595Thr) c.4717C>A (p.Pro1573Thr) c.4780C>A (p.Pro1594Thr) c.4777C>A (p.Pro1593Thr) c.4723C>A (p.Pro1575Thr) c.4648C>A (p.Pro1550Thr) c.4243C>A (p.Pro1415Thr) c.3601C>A (p.Pro1201Thr) c.1111C>A (p.Pro371Thr) n.5026C>A | ClinVar dbSNP |
10 | g.71740921C>G | CA377160701 | CDH23 | c.4588C>G (p.Pro1530Ala) c.4603C>G (p.Pro1535Ala) n.1277C>G c.4783C>G (p.Pro1595Ala) c.4717C>G (p.Pro1573Ala) c.4780C>G (p.Pro1594Ala) c.4777C>G (p.Pro1593Ala) c.4723C>G (p.Pro1575Ala) c.4648C>G (p.Pro1550Ala) c.4243C>G (p.Pro1415Ala) c.3601C>G (p.Pro1201Ala) c.1111C>G (p.Pro371Ala) n.5026C>G | |
10 | g.71740921C>T | CA377160703 | CDH23 | c.4588C>T (p.Pro1530Ser) c.4603C>T (p.Pro1535Ser) n.1277C>T c.4783C>T (p.Pro1595Ser) c.4717C>T (p.Pro1573Ser) c.4780C>T (p.Pro1594Ser) c.4777C>T (p.Pro1593Ser) c.4723C>T (p.Pro1575Ser) c.4648C>T (p.Pro1550Ser) c.4243C>T (p.Pro1415Ser) c.3601C>T (p.Pro1201Ser) c.1111C>T (p.Pro371Ser) n.5026C>T | |
10 | g.71740922C>A | CA377160705 | CDH23 | c.4589C>A (p.Pro1530His) c.4604C>A (p.Pro1535His) n.1278C>A c.4784C>A (p.Pro1595His) c.4718C>A (p.Pro1573His) c.4781C>A (p.Pro1594His) c.4778C>A (p.Pro1593His) c.4724C>A (p.Pro1575His) c.4649C>A (p.Pro1550His) c.4244C>A (p.Pro1415His) c.3602C>A (p.Pro1201His) c.1112C>A (p.Pro371His) n.5027C>A | |
10 | g.71740922C= | CA1918853867 | CDH23 | c.4589C= (p.Pro1530=) c.4604C= (p.Pro1535=) n.1278C= c.4784C= (p.Pro1595=) c.4718C= (p.Pro1573=) c.4781C= (p.Pro1594=) c.4778C= (p.Pro1593=) c.4724C= (p.Pro1575=) c.4649C= (p.Pro1550=) c.4244C= (p.Pro1415=) c.3602C= (p.Pro1201=) c.1112C= (p.Pro371=) n.5027C= | |
10 | g.71740922C>G | CA377160707 | CDH23 | c.4589C>G (p.Pro1530Arg) c.4604C>G (p.Pro1535Arg) n.1278C>G c.4784C>G (p.Pro1595Arg) c.4718C>G (p.Pro1573Arg) c.4781C>G (p.Pro1594Arg) c.4778C>G (p.Pro1593Arg) c.4724C>G (p.Pro1575Arg) c.4649C>G (p.Pro1550Arg) c.4244C>G (p.Pro1415Arg) c.3602C>G (p.Pro1201Arg) c.1112C>G (p.Pro371Arg) n.5027C>G | |
10 | g.71740922C>T | CA184239 | CDH23 | c.4589C>T (p.Pro1530Leu) c.4604C>T (p.Pro1535Leu) n.1278C>T c.4784C>T (p.Pro1595Leu) c.4718C>T (p.Pro1573Leu) c.4781C>T (p.Pro1594Leu) c.4778C>T (p.Pro1593Leu) c.4724C>T (p.Pro1575Leu) c.4649C>T (p.Pro1550Leu) c.4244C>T (p.Pro1415Leu) c.3602C>T (p.Pro1201Leu) c.1112C>T (p.Pro371Leu) n.5027C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740923C>A | CA470069249 | CDH23 | c.4590C>A (p.Pro1530=) c.4605C>A (p.Pro1535=) n.1279C>A c.4785C>A (p.Pro1595=) c.4719C>A (p.Pro1573=) c.4782C>A (p.Pro1594=) c.4779C>A (p.Pro1593=) c.4725C>A (p.Pro1575=) c.4650C>A (p.Pro1550=) c.4245C>A (p.Pro1415=) c.3603C>A (p.Pro1201=) c.1113C>A (p.Pro371=) n.5028C>A | |
10 | g.71740923C>G | CA470069250 | CDH23 | c.4590C>G (p.Pro1530=) c.4605C>G (p.Pro1535=) n.1279C>G c.4785C>G (p.Pro1595=) c.4719C>G (p.Pro1573=) c.4782C>G (p.Pro1594=) c.4779C>G (p.Pro1593=) c.4725C>G (p.Pro1575=) c.4650C>G (p.Pro1550=) c.4245C>G (p.Pro1415=) c.3603C>G (p.Pro1201=) c.1113C>G (p.Pro371=) n.5028C>G | |
10 | g.71740923C>T | CA470069251 | CDH23 | c.4590C>T (p.Pro1530=) c.4605C>T (p.Pro1535=) n.1279C>T c.4785C>T (p.Pro1595=) c.4719C>T (p.Pro1573=) c.4782C>T (p.Pro1594=) c.4779C>T (p.Pro1593=) c.4725C>T (p.Pro1575=) c.4650C>T (p.Pro1550=) c.4245C>T (p.Pro1415=) c.3603C>T (p.Pro1201=) c.1113C>T (p.Pro371=) n.5028C>T | |
10 | g.71740924T>A | CA377160716 | CDH23 | c.4591T>A (p.Phe1531Ile) c.4606T>A (p.Phe1536Ile) n.1280T>A c.4786T>A (p.Phe1596Ile) c.4720T>A (p.Phe1574Ile) c.4783T>A (p.Phe1595Ile) c.4780T>A (p.Phe1594Ile) c.4726T>A (p.Phe1576Ile) c.4651T>A (p.Phe1551Ile) c.4246T>A (p.Phe1416Ile) c.3604T>A (p.Phe1202Ile) c.1114T>A (p.Phe372Ile) n.5029T>A | |
10 | g.71740924T>C | CA377160718 | CDH23 | c.4591T>C (p.Phe1531Leu) c.4606T>C (p.Phe1536Leu) n.1280T>C c.4786T>C (p.Phe1596Leu) c.4720T>C (p.Phe1574Leu) c.4783T>C (p.Phe1595Leu) c.4780T>C (p.Phe1594Leu) c.4726T>C (p.Phe1576Leu) c.4651T>C (p.Phe1551Leu) c.4246T>C (p.Phe1416Leu) c.3604T>C (p.Phe1202Leu) c.1114T>C (p.Phe372Leu) n.5029T>C | gnomAD v4 |
10 | g.71740924T>G | CA377160724 | CDH23 | c.4591T>G (p.Phe1531Val) c.4606T>G (p.Phe1536Val) n.1280T>G c.4786T>G (p.Phe1596Val) c.4720T>G (p.Phe1574Val) c.4783T>G (p.Phe1595Val) c.4780T>G (p.Phe1594Val) c.4726T>G (p.Phe1576Val) c.4651T>G (p.Phe1551Val) c.4246T>G (p.Phe1416Val) c.3604T>G (p.Phe1202Val) c.1114T>G (p.Phe372Val) n.5029T>G | |
10 | g.71740925T>A | CA377160728 | CDH23 | c.4592T>A (p.Phe1531Tyr) c.4607T>A (p.Phe1536Tyr) n.1281T>A c.4787T>A (p.Phe1596Tyr) c.4721T>A (p.Phe1574Tyr) c.4784T>A (p.Phe1595Tyr) c.4781T>A (p.Phe1594Tyr) c.4727T>A (p.Phe1576Tyr) c.4652T>A (p.Phe1551Tyr) c.4247T>A (p.Phe1416Tyr) c.3605T>A (p.Phe1202Tyr) c.1115T>A (p.Phe372Tyr) n.5030T>A | |
10 | g.71740925T>C | CA377160727 | CDH23 | c.4592T>C (p.Phe1531Ser) c.4607T>C (p.Phe1536Ser) n.1281T>C c.4787T>C (p.Phe1596Ser) c.4721T>C (p.Phe1574Ser) c.4784T>C (p.Phe1595Ser) c.4781T>C (p.Phe1594Ser) c.4727T>C (p.Phe1576Ser) c.4652T>C (p.Phe1551Ser) c.4247T>C (p.Phe1416Ser) c.3605T>C (p.Phe1202Ser) c.1115T>C (p.Phe372Ser) n.5030T>C | |
10 | g.71740925T>G | CA377160725 | CDH23 | c.4592T>G (p.Phe1531Cys) c.4607T>G (p.Phe1536Cys) n.1281T>G c.4787T>G (p.Phe1596Cys) c.4721T>G (p.Phe1574Cys) c.4784T>G (p.Phe1595Cys) c.4781T>G (p.Phe1594Cys) c.4727T>G (p.Phe1576Cys) c.4652T>G (p.Phe1551Cys) c.4247T>G (p.Phe1416Cys) c.3605T>G (p.Phe1202Cys) c.1115T>G (p.Phe372Cys) n.5030T>G | |
10 | g.71740926T>A | CA377160730 | CDH23 | c.4593T>A (p.Phe1531Leu) c.4608T>A (p.Phe1536Leu) n.1282T>A c.4788T>A (p.Phe1596Leu) c.4722T>A (p.Phe1574Leu) c.4785T>A (p.Phe1595Leu) c.4782T>A (p.Phe1594Leu) c.4728T>A (p.Phe1576Leu) c.4653T>A (p.Phe1551Leu) c.4248T>A (p.Phe1416Leu) c.3606T>A (p.Phe1202Leu) c.1116T>A (p.Phe372Leu) n.5031T>A | |
10 | g.71740926T>C | CA470069252 | CDH23 | c.4593T>C (p.Phe1531=) c.4608T>C (p.Phe1536=) n.1282T>C c.4788T>C (p.Phe1596=) c.4722T>C (p.Phe1574=) c.4785T>C (p.Phe1595=) c.4782T>C (p.Phe1594=) c.4728T>C (p.Phe1576=) c.4653T>C (p.Phe1551=) c.4248T>C (p.Phe1416=) c.3606T>C (p.Phe1202=) c.1116T>C (p.Phe372=) n.5031T>C | gnomAD v4 |
10 | g.71740926T>G | CA377160732 | CDH23 | c.4593T>G (p.Phe1531Leu) c.4608T>G (p.Phe1536Leu) n.1282T>G c.4788T>G (p.Phe1596Leu) c.4722T>G (p.Phe1574Leu) c.4785T>G (p.Phe1595Leu) c.4782T>G (p.Phe1594Leu) c.4728T>G (p.Phe1576Leu) c.4653T>G (p.Phe1551Leu) c.4248T>G (p.Phe1416Leu) c.3606T>G (p.Phe1202Leu) c.1116T>G (p.Phe372Leu) n.5031T>G | |
10 | g.71740927G>A | CA377160734 | CDH23 | c.4594G>A (p.Gly1532Arg) c.4609G>A (p.Gly1537Arg) n.1283G>A c.4789G>A (p.Gly1597Arg) c.4723G>A (p.Gly1575Arg) c.4786G>A (p.Gly1596Arg) c.4783G>A (p.Gly1595Arg) c.4729G>A (p.Gly1577Arg) c.4654G>A (p.Gly1552Arg) c.4249G>A (p.Gly1417Arg) c.3607G>A (p.Gly1203Arg) c.1117G>A (p.Gly373Arg) n.5032G>A | |
10 | g.71740927G>C | CA377160735 | CDH23 | c.4594G>C (p.Gly1532Arg) c.4609G>C (p.Gly1537Arg) n.1283G>C c.4789G>C (p.Gly1597Arg) c.4723G>C (p.Gly1575Arg) c.4786G>C (p.Gly1596Arg) c.4783G>C (p.Gly1595Arg) c.4729G>C (p.Gly1577Arg) c.4654G>C (p.Gly1552Arg) c.4249G>C (p.Gly1417Arg) c.3607G>C (p.Gly1203Arg) c.1117G>C (p.Gly373Arg) n.5032G>C | |
10 | g.71740927G>T | CA377160736 | CDH23 | c.4594G>T (p.Gly1532Ter) c.4609G>T (p.Gly1537Ter) n.1283G>T c.4789G>T (p.Gly1597Ter) c.4723G>T (p.Gly1575Ter) c.4786G>T (p.Gly1596Ter) c.4783G>T (p.Gly1595Ter) c.4729G>T (p.Gly1577Ter) c.4654G>T (p.Gly1552Ter) c.4249G>T (p.Gly1417Ter) c.3607G>T (p.Gly1203Ter) c.1117G>T (p.Gly373Ter) n.5032G>T | |
10 | g.71740928G>A | CA377160737 | CDH23 | c.4595G>A (p.Gly1532Glu) c.4610G>A (p.Gly1537Glu) n.1284G>A c.4790G>A (p.Gly1597Glu) c.4724G>A (p.Gly1575Glu) c.4787G>A (p.Gly1596Glu) c.4784G>A (p.Gly1595Glu) c.4730G>A (p.Gly1577Glu) c.4655G>A (p.Gly1552Glu) c.4250G>A (p.Gly1417Glu) c.3608G>A (p.Gly1203Glu) c.1118G>A (p.Gly373Glu) n.5033G>A | |
10 | g.71740928G>C | CA377160739 | CDH23 | c.4595G>C (p.Gly1532Ala) c.4610G>C (p.Gly1537Ala) n.1284G>C c.4790G>C (p.Gly1597Ala) c.4724G>C (p.Gly1575Ala) c.4787G>C (p.Gly1596Ala) c.4784G>C (p.Gly1595Ala) c.4730G>C (p.Gly1577Ala) c.4655G>C (p.Gly1552Ala) c.4250G>C (p.Gly1417Ala) c.3608G>C (p.Gly1203Ala) c.1118G>C (p.Gly373Ala) n.5033G>C | |
10 | g.71740928G>T | CA377160740 | CDH23 | c.4595G>T (p.Gly1532Val) c.4610G>T (p.Gly1537Val) n.1284G>T c.4790G>T (p.Gly1597Val) c.4724G>T (p.Gly1575Val) c.4787G>T (p.Gly1596Val) c.4784G>T (p.Gly1595Val) c.4730G>T (p.Gly1577Val) c.4655G>T (p.Gly1552Val) c.4250G>T (p.Gly1417Val) c.3608G>T (p.Gly1203Val) c.1118G>T (p.Gly373Val) n.5033G>T | |
10 | g.71740929A>C | CA470069253 | CDH23 | c.4596A>C (p.Gly1532=) c.4611A>C (p.Gly1537=) n.1285A>C c.4791A>C (p.Gly1597=) c.4725A>C (p.Gly1575=) c.4788A>C (p.Gly1596=) c.4785A>C (p.Gly1595=) c.4731A>C (p.Gly1577=) c.4656A>C (p.Gly1552=) c.4251A>C (p.Gly1417=) c.3609A>C (p.Gly1203=) c.1119A>C (p.Gly373=) n.5034A>C | |
10 | g.71740929A>G | CA470069254 | CDH23 | c.4596A>G (p.Gly1532=) c.4611A>G (p.Gly1537=) n.1285A>G c.4791A>G (p.Gly1597=) c.4725A>G (p.Gly1575=) c.4788A>G (p.Gly1596=) c.4785A>G (p.Gly1595=) c.4731A>G (p.Gly1577=) c.4656A>G (p.Gly1552=) c.4251A>G (p.Gly1417=) c.3609A>G (p.Gly1203=) c.1119A>G (p.Gly373=) n.5034A>G | |
10 | g.71740929A>T | CA470069255 | CDH23 | c.4596A>T (p.Gly1532=) c.4611A>T (p.Gly1537=) n.1285A>T c.4791A>T (p.Gly1597=) c.4725A>T (p.Gly1575=) c.4788A>T (p.Gly1596=) c.4785A>T (p.Gly1595=) c.4731A>T (p.Gly1577=) c.4656A>T (p.Gly1552=) c.4251A>T (p.Gly1417=) c.3609A>T (p.Gly1203=) c.1119A>T (p.Gly373=) n.5034A>T | |
10 | g.71740930T>A | CA377160742 | CDH23 | c.4597T>A (p.Tyr1533Asn) c.4612T>A (p.Tyr1538Asn) n.1286T>A c.4792T>A (p.Tyr1598Asn) c.4726T>A (p.Tyr1576Asn) c.4789T>A (p.Tyr1597Asn) c.4786T>A (p.Tyr1596Asn) c.4732T>A (p.Tyr1578Asn) c.4657T>A (p.Tyr1553Asn) c.4252T>A (p.Tyr1418Asn) c.3610T>A (p.Tyr1204Asn) c.1120T>A (p.Tyr374Asn) n.5035T>A | |
10 | g.71740930T>C | CA377160744 | CDH23 | c.4597T>C (p.Tyr1533His) c.4612T>C (p.Tyr1538His) n.1286T>C c.4792T>C (p.Tyr1598His) c.4726T>C (p.Tyr1576His) c.4789T>C (p.Tyr1597His) c.4786T>C (p.Tyr1596His) c.4732T>C (p.Tyr1578His) c.4657T>C (p.Tyr1553His) c.4252T>C (p.Tyr1418His) c.3610T>C (p.Tyr1204His) c.1120T>C (p.Tyr374His) n.5035T>C | |
10 | g.71740930T>G | CA377160746 | CDH23 | c.4597T>G (p.Tyr1533Asp) c.4612T>G (p.Tyr1538Asp) n.1286T>G c.4792T>G (p.Tyr1598Asp) c.4726T>G (p.Tyr1576Asp) c.4789T>G (p.Tyr1597Asp) c.4786T>G (p.Tyr1596Asp) c.4732T>G (p.Tyr1578Asp) c.4657T>G (p.Tyr1553Asp) c.4252T>G (p.Tyr1418Asp) c.3610T>G (p.Tyr1204Asp) c.1120T>G (p.Tyr374Asp) n.5035T>G | |
10 | g.71740931A>C | CA377160752 | CDH23 | c.4598A>C (p.Tyr1533Ser) c.4613A>C (p.Tyr1538Ser) n.1287A>C c.4793A>C (p.Tyr1598Ser) c.4727A>C (p.Tyr1576Ser) c.4790A>C (p.Tyr1597Ser) c.4787A>C (p.Tyr1596Ser) c.4733A>C (p.Tyr1578Ser) c.4658A>C (p.Tyr1553Ser) c.4253A>C (p.Tyr1418Ser) c.3611A>C (p.Tyr1204Ser) c.1121A>C (p.Tyr374Ser) n.5036A>C | |
10 | g.71740931A>G | CA377160750 | CDH23 | c.4598A>G (p.Tyr1533Cys) c.4613A>G (p.Tyr1538Cys) n.1287A>G c.4793A>G (p.Tyr1598Cys) c.4727A>G (p.Tyr1576Cys) c.4790A>G (p.Tyr1597Cys) c.4787A>G (p.Tyr1596Cys) c.4733A>G (p.Tyr1578Cys) c.4658A>G (p.Tyr1553Cys) c.4253A>G (p.Tyr1418Cys) c.3611A>G (p.Tyr1204Cys) c.1121A>G (p.Tyr374Cys) n.5036A>G | |
10 | g.71740931A>T | CA377160748 | CDH23 | c.4598A>T (p.Tyr1533Phe) c.4613A>T (p.Tyr1538Phe) n.1287A>T c.4793A>T (p.Tyr1598Phe) c.4727A>T (p.Tyr1576Phe) c.4790A>T (p.Tyr1597Phe) c.4787A>T (p.Tyr1596Phe) c.4733A>T (p.Tyr1578Phe) c.4658A>T (p.Tyr1553Phe) c.4253A>T (p.Tyr1418Phe) c.3611A>T (p.Tyr1204Phe) c.1121A>T (p.Tyr374Phe) n.5036A>T | |
10 | g.71740932C>A | CA377160754 | CDH23 | c.4599C>A (p.Tyr1533Ter) c.4614C>A (p.Tyr1538Ter) n.1288C>A c.4794C>A (p.Tyr1598Ter) c.4728C>A (p.Tyr1576Ter) c.4791C>A (p.Tyr1597Ter) c.4788C>A (p.Tyr1596Ter) c.4734C>A (p.Tyr1578Ter) c.4659C>A (p.Tyr1553Ter) c.4254C>A (p.Tyr1418Ter) c.3612C>A (p.Tyr1204Ter) c.1122C>A (p.Tyr374Ter) n.5037C>A | |
10 | g.71740932C>G | CA377160756 | CDH23 | c.4599C>G (p.Tyr1533Ter) c.4614C>G (p.Tyr1538Ter) n.1288C>G c.4794C>G (p.Tyr1598Ter) c.4728C>G (p.Tyr1576Ter) c.4791C>G (p.Tyr1597Ter) c.4788C>G (p.Tyr1596Ter) c.4734C>G (p.Tyr1578Ter) c.4659C>G (p.Tyr1553Ter) c.4254C>G (p.Tyr1418Ter) c.3612C>G (p.Tyr1204Ter) c.1122C>G (p.Tyr374Ter) n.5037C>G | |
10 | g.71740932C>T | CA470069256 | CDH23 | c.4599C>T (p.Tyr1533=) c.4614C>T (p.Tyr1538=) n.1288C>T c.4794C>T (p.Tyr1598=) c.4728C>T (p.Tyr1576=) c.4791C>T (p.Tyr1597=) c.4788C>T (p.Tyr1596=) c.4734C>T (p.Tyr1578=) c.4659C>T (p.Tyr1553=) c.4254C>T (p.Tyr1418=) c.3612C>T (p.Tyr1204=) c.1122C>T (p.Tyr374=) n.5037C>T | |
10 | g.71740933A>C | CA377160758 | CDH23 | c.4600A>C (p.Asn1534His) c.4615A>C (p.Asn1539His) n.1289A>C c.4795A>C (p.Asn1599His) c.4729A>C (p.Asn1577His) c.4792A>C (p.Asn1598His) c.4789A>C (p.Asn1597His) c.4735A>C (p.Asn1579His) c.4660A>C (p.Asn1554His) c.4255A>C (p.Asn1419His) c.3613A>C (p.Asn1205His) c.1123A>C (p.Asn375His) n.5038A>C | |
10 | g.71740933A>G | CA377160760 | CDH23 | c.4600A>G (p.Asn1534Asp) c.4615A>G (p.Asn1539Asp) n.1289A>G c.4795A>G (p.Asn1599Asp) c.4729A>G (p.Asn1577Asp) c.4792A>G (p.Asn1598Asp) c.4789A>G (p.Asn1597Asp) c.4735A>G (p.Asn1579Asp) c.4660A>G (p.Asn1554Asp) c.4255A>G (p.Asn1419Asp) c.3613A>G (p.Asn1205Asp) c.1123A>G (p.Asn375Asp) n.5038A>G | gnomAD v4 |
10 | g.71740933A>T | CA377160762 | CDH23 | c.4600A>T (p.Asn1534Tyr) c.4615A>T (p.Asn1539Tyr) n.1289A>T c.4795A>T (p.Asn1599Tyr) c.4729A>T (p.Asn1577Tyr) c.4792A>T (p.Asn1598Tyr) c.4789A>T (p.Asn1597Tyr) c.4735A>T (p.Asn1579Tyr) c.4660A>T (p.Asn1554Tyr) c.4255A>T (p.Asn1419Tyr) c.3613A>T (p.Asn1205Tyr) c.1123A>T (p.Asn375Tyr) n.5038A>T | |
10 | g.71740934A= | CA1918853868 | CDH23 | c.4601A= (p.Asn1534=) c.4616A= (p.Asn1539=) n.1290A= c.4796A= (p.Asn1599=) c.4730A= (p.Asn1577=) c.4793A= (p.Asn1598=) c.4790A= (p.Asn1597=) c.4736A= (p.Asn1579=) c.4661A= (p.Asn1554=) c.4256A= (p.Asn1419=) c.3614A= (p.Asn1205=) c.1124A= (p.Asn375=) n.5039A= | |
10 | g.71740934A>C | CA377160763 | CDH23 | c.4601A>C (p.Asn1534Thr) c.4616A>C (p.Asn1539Thr) n.1290A>C c.4796A>C (p.Asn1599Thr) c.4730A>C (p.Asn1577Thr) c.4793A>C (p.Asn1598Thr) c.4790A>C (p.Asn1597Thr) c.4736A>C (p.Asn1579Thr) c.4661A>C (p.Asn1554Thr) c.4256A>C (p.Asn1419Thr) c.3614A>C (p.Asn1205Thr) c.1124A>C (p.Asn375Thr) n.5039A>C | |
10 | g.71740934A>G | CA377160764 | CDH23 | c.4601A>G (p.Asn1534Ser) c.4616A>G (p.Asn1539Ser) n.1290A>G c.4796A>G (p.Asn1599Ser) c.4730A>G (p.Asn1577Ser) c.4793A>G (p.Asn1598Ser) c.4790A>G (p.Asn1597Ser) c.4736A>G (p.Asn1579Ser) c.4661A>G (p.Asn1554Ser) c.4256A>G (p.Asn1419Ser) c.3614A>G (p.Asn1205Ser) c.1124A>G (p.Asn375Ser) n.5039A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740934A>T | CA377160765 | CDH23 | c.4601A>T (p.Asn1534Ile) c.4616A>T (p.Asn1539Ile) n.1290A>T c.4796A>T (p.Asn1599Ile) c.4730A>T (p.Asn1577Ile) c.4793A>T (p.Asn1598Ile) c.4790A>T (p.Asn1597Ile) c.4736A>T (p.Asn1579Ile) c.4661A>T (p.Asn1554Ile) c.4256A>T (p.Asn1419Ile) c.3614A>T (p.Asn1205Ile) c.1124A>T (p.Asn375Ile) n.5039A>T | |
10 | g.71740935T>A | CA377160766 | CDH23 | c.4602T>A (p.Asn1534Lys) c.4617T>A (p.Asn1539Lys) n.1291T>A c.4797T>A (p.Asn1599Lys) c.4731T>A (p.Asn1577Lys) c.4794T>A (p.Asn1598Lys) c.4791T>A (p.Asn1597Lys) c.4737T>A (p.Asn1579Lys) c.4662T>A (p.Asn1554Lys) c.4257T>A (p.Asn1419Lys) c.3615T>A (p.Asn1205Lys) c.1125T>A (p.Asn375Lys) n.5040T>A | gnomAD v4 |
10 | g.71740935T>C | CA470069257 | CDH23 | c.4602T>C (p.Asn1534=) c.4617T>C (p.Asn1539=) n.1291T>C c.4797T>C (p.Asn1599=) c.4731T>C (p.Asn1577=) c.4794T>C (p.Asn1598=) c.4791T>C (p.Asn1597=) c.4737T>C (p.Asn1579=) c.4662T>C (p.Asn1554=) c.4257T>C (p.Asn1419=) c.3615T>C (p.Asn1205=) c.1125T>C (p.Asn375=) n.5040T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740935T>G | CA377160767 | CDH23 | c.4602T>G (p.Asn1534Lys) c.4617T>G (p.Asn1539Lys) n.1291T>G c.4797T>G (p.Asn1599Lys) c.4731T>G (p.Asn1577Lys) c.4794T>G (p.Asn1598Lys) c.4791T>G (p.Asn1597Lys) c.4737T>G (p.Asn1579Lys) c.4662T>G (p.Asn1554Lys) c.4257T>G (p.Asn1419Lys) c.3615T>G (p.Asn1205Lys) c.1125T>G (p.Asn375Lys) n.5040T>G | |
10 | g.71740935T= | CA1918853869 | CDH23 | c.4602T= (p.Asn1534=) c.4617T= (p.Asn1539=) n.1291T= c.4797T= (p.Asn1599=) c.4731T= (p.Asn1577=) c.4794T= (p.Asn1598=) c.4791T= (p.Asn1597=) c.4737T= (p.Asn1579=) c.4662T= (p.Asn1554=) c.4257T= (p.Asn1419=) c.3615T= (p.Asn1205=) c.1125T= (p.Asn375=) n.5040T= | |
10 | g.71740936G>A | CA377160768 | CDH23 | c.4603G>A (p.Val1535Ile) c.4618G>A (p.Val1540Ile) n.1292G>A c.4798G>A (p.Val1600Ile) c.4732G>A (p.Val1578Ile) c.4795G>A (p.Val1599Ile) c.4792G>A (p.Val1598Ile) c.4738G>A (p.Val1580Ile) c.4663G>A (p.Val1555Ile) c.4258G>A (p.Val1420Ile) c.3616G>A (p.Val1206Ile) c.1126G>A (p.Val376Ile) n.5041G>A | gnomAD v4 |
10 | g.71740936G>C | CA377160769 | CDH23 | c.4603G>C (p.Val1535Leu) c.4618G>C (p.Val1540Leu) n.1292G>C c.4798G>C (p.Val1600Leu) c.4732G>C (p.Val1578Leu) c.4795G>C (p.Val1599Leu) c.4792G>C (p.Val1598Leu) c.4738G>C (p.Val1580Leu) c.4663G>C (p.Val1555Leu) c.4258G>C (p.Val1420Leu) c.3616G>C (p.Val1206Leu) c.1126G>C (p.Val376Leu) n.5041G>C | |
10 | g.71740936G>T | CA377160770 | CDH23 | c.4603G>T (p.Val1535Phe) c.4618G>T (p.Val1540Phe) n.1292G>T c.4798G>T (p.Val1600Phe) c.4732G>T (p.Val1578Phe) c.4795G>T (p.Val1599Phe) c.4792G>T (p.Val1598Phe) c.4738G>T (p.Val1580Phe) c.4663G>T (p.Val1555Phe) c.4258G>T (p.Val1420Phe) c.3616G>T (p.Val1206Phe) c.1126G>T (p.Val376Phe) n.5041G>T | |
10 | g.71740937T>A | CA377160772 | CDH23 | c.4604T>A (p.Val1535Asp) c.4619T>A (p.Val1540Asp) n.1293T>A c.4799T>A (p.Val1600Asp) c.4733T>A (p.Val1578Asp) c.4796T>A (p.Val1599Asp) c.4793T>A (p.Val1598Asp) c.4739T>A (p.Val1580Asp) c.4664T>A (p.Val1555Asp) c.4259T>A (p.Val1420Asp) c.3617T>A (p.Val1206Asp) c.1127T>A (p.Val376Asp) n.5042T>A | ClinVar dbSNP |
10 | g.71740937T>C | CA377160776 | CDH23 | c.4604T>C (p.Val1535Ala) c.4619T>C (p.Val1540Ala) n.1293T>C c.4799T>C (p.Val1600Ala) c.4733T>C (p.Val1578Ala) c.4796T>C (p.Val1599Ala) c.4793T>C (p.Val1598Ala) c.4739T>C (p.Val1580Ala) c.4664T>C (p.Val1555Ala) c.4259T>C (p.Val1420Ala) c.3617T>C (p.Val1206Ala) c.1127T>C (p.Val376Ala) n.5042T>C | |
10 | g.71740937T>G | CA377160774 | CDH23 | c.4604T>G (p.Val1535Gly) c.4619T>G (p.Val1540Gly) n.1293T>G c.4799T>G (p.Val1600Gly) c.4733T>G (p.Val1578Gly) c.4796T>G (p.Val1599Gly) c.4793T>G (p.Val1598Gly) c.4739T>G (p.Val1580Gly) c.4664T>G (p.Val1555Gly) c.4259T>G (p.Val1420Gly) c.3617T>G (p.Val1206Gly) c.1127T>G (p.Val376Gly) n.5042T>G | |
10 | g.71740938C>A | CA470069258 | CDH23 | c.4605C>A (p.Val1535=) c.4620C>A (p.Val1540=) n.1294C>A c.4800C>A (p.Val1600=) c.4734C>A (p.Val1578=) c.4797C>A (p.Val1599=) c.4794C>A (p.Val1598=) c.4740C>A (p.Val1580=) c.4665C>A (p.Val1555=) c.4260C>A (p.Val1420=) c.3618C>A (p.Val1206=) c.1128C>A (p.Val376=) n.5043C>A | gnomAD v4 |
10 | g.71740938C= | CA1918853870 | CDH23 | c.4605C= (p.Val1535=) c.4620C= (p.Val1540=) n.1294C= c.4800C= (p.Val1600=) c.4734C= (p.Val1578=) c.4797C= (p.Val1599=) c.4794C= (p.Val1598=) c.4740C= (p.Val1580=) c.4665C= (p.Val1555=) c.4260C= (p.Val1420=) c.3618C= (p.Val1206=) c.1128C= (p.Val376=) n.5043C= | |
10 | g.71740938C>G | CA470069260 | CDH23 | c.4605C>G (p.Val1535=) c.4620C>G (p.Val1540=) n.1294C>G c.4800C>G (p.Val1600=) c.4734C>G (p.Val1578=) c.4797C>G (p.Val1599=) c.4794C>G (p.Val1598=) c.4740C>G (p.Val1580=) c.4665C>G (p.Val1555=) c.4260C>G (p.Val1420=) c.3618C>G (p.Val1206=) c.1128C>G (p.Val376=) n.5043C>G | |
10 | g.71740938C>T | CA470069261 | CDH23 | c.4605C>T (p.Val1535=) c.4620C>T (p.Val1540=) n.1294C>T c.4800C>T (p.Val1600=) c.4734C>T (p.Val1578=) c.4797C>T (p.Val1599=) c.4794C>T (p.Val1598=) c.4740C>T (p.Val1580=) c.4665C>T (p.Val1555=) c.4260C>T (p.Val1420=) c.3618C>T (p.Val1206=) c.1128C>T (p.Val376=) n.5043C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740939A>C | CA377160778 | CDH23 | c.4606A>C (p.Ser1536Arg) c.4621A>C (p.Ser1541Arg) n.1295A>C c.4801A>C (p.Ser1601Arg) c.4735A>C (p.Ser1579Arg) c.4798A>C (p.Ser1600Arg) c.4795A>C (p.Ser1599Arg) c.4741A>C (p.Ser1581Arg) c.4666A>C (p.Ser1556Arg) c.4261A>C (p.Ser1421Arg) c.3619A>C (p.Ser1207Arg) c.1129A>C (p.Ser377Arg) n.5044A>C | |
10 | g.71740939A>G | CA377160779 | CDH23 | c.4606A>G (p.Ser1536Gly) c.4621A>G (p.Ser1541Gly) n.1295A>G c.4801A>G (p.Ser1601Gly) c.4735A>G (p.Ser1579Gly) c.4798A>G (p.Ser1600Gly) c.4795A>G (p.Ser1599Gly) c.4741A>G (p.Ser1581Gly) c.4666A>G (p.Ser1556Gly) c.4261A>G (p.Ser1421Gly) c.3619A>G (p.Ser1207Gly) c.1129A>G (p.Ser377Gly) n.5044A>G | |
10 | g.71740939A>T | CA377160780 | CDH23 | c.4606A>T (p.Ser1536Cys) c.4621A>T (p.Ser1541Cys) n.1295A>T c.4801A>T (p.Ser1601Cys) c.4735A>T (p.Ser1579Cys) c.4798A>T (p.Ser1600Cys) c.4795A>T (p.Ser1599Cys) c.4741A>T (p.Ser1581Cys) c.4666A>T (p.Ser1556Cys) c.4261A>T (p.Ser1421Cys) c.3619A>T (p.Ser1207Cys) c.1129A>T (p.Ser377Cys) n.5044A>T | |
10 | g.71740940G>A | CA377160781 | CDH23 | c.4607G>A (p.Ser1536Asn) c.4622G>A (p.Ser1541Asn) n.1296G>A c.4802G>A (p.Ser1601Asn) c.4736G>A (p.Ser1579Asn) c.4799G>A (p.Ser1600Asn) c.4796G>A (p.Ser1599Asn) c.4742G>A (p.Ser1581Asn) c.4667G>A (p.Ser1556Asn) c.4262G>A (p.Ser1421Asn) c.3620G>A (p.Ser1207Asn) c.1130G>A (p.Ser377Asn) n.5045G>A | gnomAD v4 |
10 | g.71740940G>C | CA377160783 | CDH23 | c.4607G>C (p.Ser1536Thr) c.4622G>C (p.Ser1541Thr) n.1296G>C c.4802G>C (p.Ser1601Thr) c.4736G>C (p.Ser1579Thr) c.4799G>C (p.Ser1600Thr) c.4796G>C (p.Ser1599Thr) c.4742G>C (p.Ser1581Thr) c.4667G>C (p.Ser1556Thr) c.4262G>C (p.Ser1421Thr) c.3620G>C (p.Ser1207Thr) c.1130G>C (p.Ser377Thr) n.5045G>C | |
10 | g.71740940G= | CA1918853871 | CDH23 | c.4607G= (p.Ser1536=) c.4622G= (p.Ser1541=) n.1296G= c.4802G= (p.Ser1601=) c.4736G= (p.Ser1579=) c.4799G= (p.Ser1600=) c.4796G= (p.Ser1599=) c.4742G= (p.Ser1581=) c.4667G= (p.Ser1556=) c.4262G= (p.Ser1421=) c.3620G= (p.Ser1207=) c.1130G= (p.Ser377=) n.5045G= | |
10 | g.71740940G>T | CA377160785 | CDH23 | c.4607G>T (p.Ser1536Ile) c.4622G>T (p.Ser1541Ile) n.1296G>T c.4802G>T (p.Ser1601Ile) c.4736G>T (p.Ser1579Ile) c.4799G>T (p.Ser1600Ile) c.4796G>T (p.Ser1599Ile) c.4742G>T (p.Ser1581Ile) c.4667G>T (p.Ser1556Ile) c.4262G>T (p.Ser1421Ile) c.3620G>T (p.Ser1207Ile) c.1130G>T (p.Ser377Ile) n.5045G>T | gnomAD v4 |
10 | g.71740943_71740944del | CA2788484258 | CDH23 | c.4610_4611del (p.Val1537GlufsTer2) c.4625_4626del (p.Val1542GlufsTer2) n.1299_1300del c.4805_4806del (p.Val1602GlufsTer2) c.4739_4740del (p.Val1580GlufsTer2) c.4802_4803del (p.Val1601GlufsTer2) c.4799_4800del (p.Val1600GlufsTer2) c.4745_4746del (p.Val1582GlufsTer2) c.4670_4671del (p.Val1557GlufsTer2) c.4265_4266del (p.Val1422GlufsTer2) c.3623_3624del (p.Val1208GlufsTer2) c.1133_1134del (p.Val378GlufsTer2) n.5048_5049del | |
10 | g.71740941T>A | CA377160787 | CDH23 | c.4608T>A (p.Ser1536Arg) c.4623T>A (p.Ser1541Arg) n.1297T>A c.4803T>A (p.Ser1601Arg) c.4737T>A (p.Ser1579Arg) c.4800T>A (p.Ser1600Arg) c.4797T>A (p.Ser1599Arg) c.4743T>A (p.Ser1581Arg) c.4668T>A (p.Ser1556Arg) c.4263T>A (p.Ser1421Arg) c.3621T>A (p.Ser1207Arg) c.1131T>A (p.Ser377Arg) n.5046T>A | |
10 | g.71740941T>C | CA209486355 | CDH23 | c.4608T>C (p.Ser1536=) c.4623T>C (p.Ser1541=) n.1297T>C c.4803T>C (p.Ser1601=) c.4737T>C (p.Ser1579=) c.4800T>C (p.Ser1600=) c.4797T>C (p.Ser1599=) c.4743T>C (p.Ser1581=) c.4668T>C (p.Ser1556=) c.4263T>C (p.Ser1421=) c.3621T>C (p.Ser1207=) c.1131T>C (p.Ser377=) n.5046T>C | ClinVar dbSNP gnomAD v4 |
10 | g.71740941T>G | CA377160788 | CDH23 | c.4608T>G (p.Ser1536Arg) c.4623T>G (p.Ser1541Arg) n.1297T>G c.4803T>G (p.Ser1601Arg) c.4737T>G (p.Ser1579Arg) c.4800T>G (p.Ser1600Arg) c.4797T>G (p.Ser1599Arg) c.4743T>G (p.Ser1581Arg) c.4668T>G (p.Ser1556Arg) c.4263T>G (p.Ser1421Arg) c.3621T>G (p.Ser1207Arg) c.1131T>G (p.Ser377Arg) n.5046T>G | |
10 | g.71740941T= | CA1918853873 | CDH23 | c.4608T= (p.Ser1536=) c.4623T= (p.Ser1541=) n.1297T= c.4803T= (p.Ser1601=) c.4737T= (p.Ser1579=) c.4800T= (p.Ser1600=) c.4797T= (p.Ser1599=) c.4743T= (p.Ser1581=) c.4668T= (p.Ser1556=) c.4263T= (p.Ser1421=) c.3621T= (p.Ser1207=) c.1131T= (p.Ser377=) n.5046T= | |
10 | g.71740941dup | CA1918853872 | CDH23 | c.4608dup (p.Val1537CysfsTer3) c.4623dup (p.Val1542CysfsTer3) n.1297dup c.4803dup (p.Val1602CysfsTer3) c.4737dup (p.Val1580CysfsTer3) c.4800dup (p.Val1601CysfsTer3) c.4797dup (p.Val1600CysfsTer3) c.4743dup (p.Val1582CysfsTer3) c.4668dup (p.Val1557CysfsTer3) c.4263dup (p.Val1422CysfsTer3) c.3621dup (p.Val1208CysfsTer3) c.1131dup (p.Val378CysfsTer3) n.5046dup | dbSNP |
10 | g.71740941_71740942insACA | CA2788484259 | CDH23 | c.4608_4609insACA (p.Ser1536_Val1537insThr) c.4623_4624insACA (p.Ser1541_Val1542insThr) n.1297_1298insACA c.4803_4804insACA (p.Ser1601_Val1602insThr) c.4737_4738insACA (p.Ser1579_Val1580insThr) c.4800_4801insACA (p.Ser1600_Val1601insThr) c.4797_4798insACA (p.Ser1599_Val1600insThr) c.4743_4744insACA (p.Ser1581_Val1582insThr) c.4668_4669insACA (p.Ser1556_Val1557insThr) c.4263_4264insACA (p.Ser1421_Val1422insThr) c.3621_3622insACA (p.Ser1207_Val1208insThr) c.1131_1132insACA (p.Ser377_Val378insThr) n.5046_5047insACA | |
10 | g.71740942G>A | CA377160789 | CDH23 | c.4609G>A (p.Val1537Met) c.4624G>A (p.Val1542Met) n.1298G>A c.4804G>A (p.Val1602Met) c.4738G>A (p.Val1580Met) c.4801G>A (p.Val1601Met) c.4798G>A (p.Val1600Met) c.4744G>A (p.Val1582Met) c.4669G>A (p.Val1557Met) c.4264G>A (p.Val1422Met) c.3622G>A (p.Val1208Met) c.1132G>A (p.Val378Met) n.5047G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71740942G>C | CA377160790 | CDH23 | c.4609G>C (p.Val1537Leu) c.4624G>C (p.Val1542Leu) n.1298G>C c.4804G>C (p.Val1602Leu) c.4738G>C (p.Val1580Leu) c.4801G>C (p.Val1601Leu) c.4798G>C (p.Val1600Leu) c.4744G>C (p.Val1582Leu) c.4669G>C (p.Val1557Leu) c.4264G>C (p.Val1422Leu) c.3622G>C (p.Val1208Leu) c.1132G>C (p.Val378Leu) n.5047G>C | |
10 | g.71740942G= | CA1918853874 | CDH23 | c.4609G= (p.Val1537=) c.4624G= (p.Val1542=) n.1298G= c.4804G= (p.Val1602=) c.4738G= (p.Val1580=) c.4801G= (p.Val1601=) c.4798G= (p.Val1600=) c.4744G= (p.Val1582=) c.4669G= (p.Val1557=) c.4264G= (p.Val1422=) c.3622G= (p.Val1208=) c.1132G= (p.Val378=) n.5047G= | |
10 | g.71740942G>T | CA377160791 | CDH23 | c.4609G>T (p.Val1537Leu) c.4624G>T (p.Val1542Leu) n.1298G>T c.4804G>T (p.Val1602Leu) c.4738G>T (p.Val1580Leu) c.4801G>T (p.Val1601Leu) c.4798G>T (p.Val1600Leu) c.4744G>T (p.Val1582Leu) c.4669G>T (p.Val1557Leu) c.4264G>T (p.Val1422Leu) c.3622G>T (p.Val1208Leu) c.1132G>T (p.Val378Leu) n.5047G>T | |
10 | g.71740943T>A | CA377160794 | CDH23 | c.4610T>A (p.Val1537Glu) c.4625T>A (p.Val1542Glu) n.1299T>A c.4805T>A (p.Val1602Glu) c.4739T>A (p.Val1580Glu) c.4802T>A (p.Val1601Glu) c.4799T>A (p.Val1600Glu) c.4745T>A (p.Val1582Glu) c.4670T>A (p.Val1557Glu) c.4265T>A (p.Val1422Glu) c.3623T>A (p.Val1208Glu) c.1133T>A (p.Val378Glu) n.5048T>A | |
10 | g.71740943T>C | CA377160796 | CDH23 | c.4610T>C (p.Val1537Ala) c.4625T>C (p.Val1542Ala) n.1299T>C c.4805T>C (p.Val1602Ala) c.4739T>C (p.Val1580Ala) c.4802T>C (p.Val1601Ala) c.4799T>C (p.Val1600Ala) c.4745T>C (p.Val1582Ala) c.4670T>C (p.Val1557Ala) c.4265T>C (p.Val1422Ala) c.3623T>C (p.Val1208Ala) c.1133T>C (p.Val378Ala) n.5048T>C | |
10 | g.71740943T>G | CA377160793 | CDH23 | c.4610T>G (p.Val1537Gly) c.4625T>G (p.Val1542Gly) n.1299T>G c.4805T>G (p.Val1602Gly) c.4739T>G (p.Val1580Gly) c.4802T>G (p.Val1601Gly) c.4799T>G (p.Val1600Gly) c.4745T>G (p.Val1582Gly) c.4670T>G (p.Val1557Gly) c.4265T>G (p.Val1422Gly) c.3623T>G (p.Val1208Gly) c.1133T>G (p.Val378Gly) n.5048T>G | |
10 | g.71740944G>A | CA470069262 | CDH23 | c.4611G>A (p.Val1537=) c.4626G>A (p.Val1542=) n.1300G>A c.4806G>A (p.Val1602=) c.4740G>A (p.Val1580=) c.4803G>A (p.Val1601=) c.4800G>A (p.Val1600=) c.4746G>A (p.Val1582=) c.4671G>A (p.Val1557=) c.4266G>A (p.Val1422=) c.3624G>A (p.Val1208=) c.1134G>A (p.Val378=) n.5049G>A | |
10 | g.71740944G>C | CA470069264 | CDH23 | c.4611G>C (p.Val1537=) c.4626G>C (p.Val1542=) n.1300G>C c.4806G>C (p.Val1602=) c.4740G>C (p.Val1580=) c.4803G>C (p.Val1601=) c.4800G>C (p.Val1600=) c.4746G>C (p.Val1582=) c.4671G>C (p.Val1557=) c.4266G>C (p.Val1422=) c.3624G>C (p.Val1208=) c.1134G>C (p.Val378=) n.5049G>C | |
10 | g.71740944G>T | CA470069263 | CDH23 | c.4611G>T (p.Val1537=) c.4626G>T (p.Val1542=) n.1300G>T c.4806G>T (p.Val1602=) c.4740G>T (p.Val1580=) c.4803G>T (p.Val1601=) c.4800G>T (p.Val1600=) c.4746G>T (p.Val1582=) c.4671G>T (p.Val1557=) c.4266G>T (p.Val1422=) c.3624G>T (p.Val1208=) c.1134G>T (p.Val378=) n.5049G>T | |
10 | g.71740945A>C | CA377160802 | CDH23 | c.4612A>C (p.Asn1538His) c.4627A>C (p.Asn1543His) n.1301A>C c.4807A>C (p.Asn1603His) c.4741A>C (p.Asn1581His) c.4804A>C (p.Asn1602His) c.4801A>C (p.Asn1601His) c.4747A>C (p.Asn1583His) c.4672A>C (p.Asn1558His) c.4267A>C (p.Asn1423His) c.3625A>C (p.Asn1209His) c.1135A>C (p.Asn379His) n.5050A>C | |
10 | g.71740945A>G | CA377160798 | CDH23 | c.4612A>G (p.Asn1538Asp) c.4627A>G (p.Asn1543Asp) n.1301A>G c.4807A>G (p.Asn1603Asp) c.4741A>G (p.Asn1581Asp) c.4804A>G (p.Asn1602Asp) c.4801A>G (p.Asn1601Asp) c.4747A>G (p.Asn1583Asp) c.4672A>G (p.Asn1558Asp) c.4267A>G (p.Asn1423Asp) c.3625A>G (p.Asn1209Asp) c.1135A>G (p.Asn379Asp) n.5050A>G | |
10 | g.71740945A>T | CA377160800 | CDH23 | c.4612A>T (p.Asn1538Tyr) c.4627A>T (p.Asn1543Tyr) n.1301A>T c.4807A>T (p.Asn1603Tyr) c.4741A>T (p.Asn1581Tyr) c.4804A>T (p.Asn1602Tyr) c.4801A>T (p.Asn1601Tyr) c.4747A>T (p.Asn1583Tyr) c.4672A>T (p.Asn1558Tyr) c.4267A>T (p.Asn1423Tyr) c.3625A>T (p.Asn1209Tyr) c.1135A>T (p.Asn379Tyr) n.5050A>T | |
10 | g.71740946A>C | CA377160804 | CDH23 | c.4613A>C (p.Asn1538Thr) c.4628A>C (p.Asn1543Thr) n.1302A>C c.4808A>C (p.Asn1603Thr) c.4742A>C (p.Asn1581Thr) c.4805A>C (p.Asn1602Thr) c.4802A>C (p.Asn1601Thr) c.4748A>C (p.Asn1583Thr) c.4673A>C (p.Asn1558Thr) c.4268A>C (p.Asn1423Thr) c.3626A>C (p.Asn1209Thr) c.1136A>C (p.Asn379Thr) n.5051A>C | |
10 | g.71740946A>G | CA377160806 | CDH23 | c.4613A>G (p.Asn1538Ser) c.4628A>G (p.Asn1543Ser) n.1302A>G c.4808A>G (p.Asn1603Ser) c.4742A>G (p.Asn1581Ser) c.4805A>G (p.Asn1602Ser) c.4802A>G (p.Asn1601Ser) c.4748A>G (p.Asn1583Ser) c.4673A>G (p.Asn1558Ser) c.4268A>G (p.Asn1423Ser) c.3626A>G (p.Asn1209Ser) c.1136A>G (p.Asn379Ser) n.5051A>G | |
10 | g.71740946A>T | CA377160808 | CDH23 | c.4613A>T (p.Asn1538Ile) c.4628A>T (p.Asn1543Ile) n.1302A>T c.4808A>T (p.Asn1603Ile) c.4742A>T (p.Asn1581Ile) c.4805A>T (p.Asn1602Ile) c.4802A>T (p.Asn1601Ile) c.4748A>T (p.Asn1583Ile) c.4673A>T (p.Asn1558Ile) c.4268A>T (p.Asn1423Ile) c.3626A>T (p.Asn1209Ile) c.1136A>T (p.Asn379Ile) n.5051A>T | |
10 | g.71740947T>A | CA377160809 | CDH23 | c.4614T>A (p.Asn1538Lys) c.4629T>A (p.Asn1543Lys) n.1303T>A c.4809T>A (p.Asn1603Lys) c.4743T>A (p.Asn1581Lys) c.4806T>A (p.Asn1602Lys) c.4803T>A (p.Asn1601Lys) c.4749T>A (p.Asn1583Lys) c.4674T>A (p.Asn1558Lys) c.4269T>A (p.Asn1423Lys) c.3627T>A (p.Asn1209Lys) c.1137T>A (p.Asn379Lys) n.5052T>A | |
10 | g.71740947T>C | CA470069266 | CDH23 | c.4614T>C (p.Asn1538=) c.4629T>C (p.Asn1543=) n.1303T>C c.4809T>C (p.Asn1603=) c.4743T>C (p.Asn1581=) c.4806T>C (p.Asn1602=) c.4803T>C (p.Asn1601=) c.4749T>C (p.Asn1583=) c.4674T>C (p.Asn1558=) c.4269T>C (p.Asn1423=) c.3627T>C (p.Asn1209=) c.1137T>C (p.Asn379=) n.5052T>C | |
10 | g.71740947T>G | CA377160811 | CDH23 | c.4614T>G (p.Asn1538Lys) c.4629T>G (p.Asn1543Lys) n.1303T>G c.4809T>G (p.Asn1603Lys) c.4743T>G (p.Asn1581Lys) c.4806T>G (p.Asn1602Lys) c.4803T>G (p.Asn1601Lys) c.4749T>G (p.Asn1583Lys) c.4674T>G (p.Asn1558Lys) c.4269T>G (p.Asn1423Lys) c.3627T>G (p.Asn1209Lys) c.1137T>G (p.Asn379Lys) n.5052T>G | |
10 | g.71740948G>A | CA377160813 | CDH23 | c.4615G>A (p.Glu1539Lys) c.4630G>A (p.Glu1544Lys) n.1304G>A c.4810G>A (p.Glu1604Lys) c.4744G>A (p.Glu1582Lys) c.4807G>A (p.Glu1603Lys) c.4804G>A (p.Glu1602Lys) c.4750G>A (p.Glu1584Lys) c.4675G>A (p.Glu1559Lys) c.4270G>A (p.Glu1424Lys) c.3628G>A (p.Glu1210Lys) c.1138G>A (p.Glu380Lys) n.5053G>A | gnomAD v4 |
10 | g.71740948G>C | CA377160815 | CDH23 | c.4615G>C (p.Glu1539Gln) c.4630G>C (p.Glu1544Gln) n.1304G>C c.4810G>C (p.Glu1604Gln) c.4744G>C (p.Glu1582Gln) c.4807G>C (p.Glu1603Gln) c.4804G>C (p.Glu1602Gln) c.4750G>C (p.Glu1584Gln) c.4675G>C (p.Glu1559Gln) c.4270G>C (p.Glu1424Gln) c.3628G>C (p.Glu1210Gln) c.1138G>C (p.Glu380Gln) n.5053G>C | |
10 | g.71740948G>T | CA377160817 | CDH23 | c.4615G>T (p.Glu1539Ter) c.4630G>T (p.Glu1544Ter) n.1304G>T c.4810G>T (p.Glu1604Ter) c.4744G>T (p.Glu1582Ter) c.4807G>T (p.Glu1603Ter) c.4804G>T (p.Glu1602Ter) c.4750G>T (p.Glu1584Ter) c.4675G>T (p.Glu1559Ter) c.4270G>T (p.Glu1424Ter) c.3628G>T (p.Glu1210Ter) c.1138G>T (p.Glu380Ter) n.5053G>T | ClinVar |
10 | g.71740949A>C | CA377160820 | CDH23 | c.4616A>C (p.Glu1539Ala) c.4631A>C (p.Glu1544Ala) n.1305A>C c.4811A>C (p.Glu1604Ala) c.4745A>C (p.Glu1582Ala) c.4808A>C (p.Glu1603Ala) c.4805A>C (p.Glu1602Ala) c.4751A>C (p.Glu1584Ala) c.4676A>C (p.Glu1559Ala) c.4271A>C (p.Glu1424Ala) c.3629A>C (p.Glu1210Ala) c.1139A>C (p.Glu380Ala) n.5054A>C | |
10 | g.71740949A>G | CA377160822 | CDH23 | c.4616A>G (p.Glu1539Gly) c.4631A>G (p.Glu1544Gly) n.1305A>G c.4811A>G (p.Glu1604Gly) c.4745A>G (p.Glu1582Gly) c.4808A>G (p.Glu1603Gly) c.4805A>G (p.Glu1602Gly) c.4751A>G (p.Glu1584Gly) c.4676A>G (p.Glu1559Gly) c.4271A>G (p.Glu1424Gly) c.3629A>G (p.Glu1210Gly) c.1139A>G (p.Glu380Gly) n.5054A>G | gnomAD v4 |
10 | g.71740949A>T | CA377160824 | CDH23 | c.4616A>T (p.Glu1539Val) c.4631A>T (p.Glu1544Val) n.1305A>T c.4811A>T (p.Glu1604Val) c.4745A>T (p.Glu1582Val) c.4808A>T (p.Glu1603Val) c.4805A>T (p.Glu1602Val) c.4751A>T (p.Glu1584Val) c.4676A>T (p.Glu1559Val) c.4271A>T (p.Glu1424Val) c.3629A>T (p.Glu1210Val) c.1139A>T (p.Glu380Val) n.5054A>T | COSMIC COSMIC |
10 | g.71740950G>A | CA470069267 | CDH23 | c.4617G>A (p.Glu1539=) c.4632G>A (p.Glu1544=) n.1306G>A c.4812G>A (p.Glu1604=) c.4746G>A (p.Glu1582=) c.4809G>A (p.Glu1603=) c.4806G>A (p.Glu1602=) c.4752G>A (p.Glu1584=) c.4677G>A (p.Glu1559=) c.4272G>A (p.Glu1424=) c.3630G>A (p.Glu1210=) c.1140G>A (p.Glu380=) n.5055G>A | gnomAD v4 |
10 | g.71740950G>C | CA377160827 | CDH23 | c.4617G>C (p.Glu1539Asp) c.4632G>C (p.Glu1544Asp) n.1306G>C c.4812G>C (p.Glu1604Asp) c.4746G>C (p.Glu1582Asp) c.4809G>C (p.Glu1603Asp) c.4806G>C (p.Glu1602Asp) c.4752G>C (p.Glu1584Asp) c.4677G>C (p.Glu1559Asp) c.4272G>C (p.Glu1424Asp) c.3630G>C (p.Glu1210Asp) c.1140G>C (p.Glu380Asp) n.5055G>C | |
10 | g.71740950G= | CA1918853875 | CDH23 | c.4617G= (p.Glu1539=) c.4632G= (p.Glu1544=) n.1306G= c.4812G= (p.Glu1604=) c.4746G= (p.Glu1582=) c.4809G= (p.Glu1603=) c.4806G= (p.Glu1602=) c.4752G= (p.Glu1584=) c.4677G= (p.Glu1559=) c.4272G= (p.Glu1424=) c.3630G= (p.Glu1210=) c.1140G= (p.Glu380=) n.5055G= | |
10 | g.71740950G>T | CA377160826 | CDH23 | c.4617G>T (p.Glu1539Asp) c.4632G>T (p.Glu1544Asp) n.1306G>T c.4812G>T (p.Glu1604Asp) c.4746G>T (p.Glu1582Asp) c.4809G>T (p.Glu1603Asp) c.4806G>T (p.Glu1602Asp) c.4752G>T (p.Glu1584Asp) c.4677G>T (p.Glu1559Asp) c.4272G>T (p.Glu1424Asp) c.3630G>T (p.Glu1210Asp) c.1140G>T (p.Glu380Asp) n.5055G>T | dbSNP gnomAD v4 |
10 | g.71740951G>A | CA377160830 | CDH23 | c.4617+1G>A (n.4617+1G>A) c.4632+1G>A (n.4632+1G>A) n.1306+1G>A c.4812+1G>A (n.4812+1G>A) c.4746+1G>A (n.4746+1G>A) c.4809+1G>A (n.4809+1G>A) c.4806+1G>A (n.4806+1G>A) c.4752+1G>A (n.4752+1G>A) c.4677+1G>A (n.4677+1G>A) c.4272+1G>A (n.4272+1G>A) c.3630+1G>A (n.3630+1G>A) c.1140+1G>A (n.1140+1G>A) n.5055+1G>A | ClinVar dbSNP gnomAD v4 |
10 | g.71740951G>C | CA377160831 | CDH23 | c.4617+1G>C (n.4617+1G>C) c.4632+1G>C (n.4632+1G>C) n.1306+1G>C c.4812+1G>C (n.4812+1G>C) c.4746+1G>C (n.4746+1G>C) c.4809+1G>C (n.4809+1G>C) c.4806+1G>C (n.4806+1G>C) c.4752+1G>C (n.4752+1G>C) c.4677+1G>C (n.4677+1G>C) c.4272+1G>C (n.4272+1G>C) c.3630+1G>C (n.3630+1G>C) c.1140+1G>C (n.1140+1G>C) n.5055+1G>C | |
10 | g.71740951G>T | CA377160834 | CDH23 | c.4617+1G>T (n.4617+1G>T) c.4632+1G>T (n.4632+1G>T) n.1306+1G>T c.4812+1G>T (n.4812+1G>T) c.4746+1G>T (n.4746+1G>T) c.4809+1G>T (n.4809+1G>T) c.4806+1G>T (n.4806+1G>T) c.4752+1G>T (n.4752+1G>T) c.4677+1G>T (n.4677+1G>T) c.4272+1G>T (n.4272+1G>T) c.3630+1G>T (n.3630+1G>T) c.1140+1G>T (n.1140+1G>T) n.5055+1G>T | |
10 | g.71740952T>A | CA377160837 | CDH23 | c.4617+2T>A (n.4617+2T>A) c.4632+2T>A (n.4632+2T>A) n.1306+2T>A c.4812+2T>A (n.4812+2T>A) c.4746+2T>A (n.4746+2T>A) c.4809+2T>A (n.4809+2T>A) c.4806+2T>A (n.4806+2T>A) c.4752+2T>A (n.4752+2T>A) c.4677+2T>A (n.4677+2T>A) c.4272+2T>A (n.4272+2T>A) c.3630+2T>A (n.3630+2T>A) c.1140+2T>A (n.1140+2T>A) n.5055+2T>A | |
10 | g.71740952T>C | CA377160844 | CDH23 | c.4617+2T>C (n.4617+2T>C) c.4632+2T>C (n.4632+2T>C) n.1306+2T>C c.4812+2T>C (n.4812+2T>C) c.4746+2T>C (n.4746+2T>C) c.4809+2T>C (n.4809+2T>C) c.4806+2T>C (n.4806+2T>C) c.4752+2T>C (n.4752+2T>C) c.4677+2T>C (n.4677+2T>C) c.4272+2T>C (n.4272+2T>C) c.3630+2T>C (n.3630+2T>C) c.1140+2T>C (n.1140+2T>C) n.5055+2T>C | ClinVar dbSNP |
10 | g.71740952T>G | CA377160846 | CDH23 | c.4617+2T>G (n.4617+2T>G) c.4632+2T>G (n.4632+2T>G) n.1306+2T>G c.4812+2T>G (n.4812+2T>G) c.4746+2T>G (n.4746+2T>G) c.4809+2T>G (n.4809+2T>G) c.4806+2T>G (n.4806+2T>G) c.4752+2T>G (n.4752+2T>G) c.4677+2T>G (n.4677+2T>G) c.4272+2T>G (n.4272+2T>G) c.3630+2T>G (n.3630+2T>G) c.1140+2T>G (n.1140+2T>G) n.5055+2T>G | |
10 | g.71740952T= | CA1918853876 | CDH23 | c.4617+2T= (n.4617+2T=) c.4632+2T= (n.4632+2T=) n.1306+2T= c.4812+2T= (n.4812+2T=) c.4746+2T= (n.4746+2T=) c.4809+2T= (n.4809+2T=) c.4806+2T= (n.4806+2T=) c.4752+2T= (n.4752+2T=) c.4677+2T= (n.4677+2T=) c.4272+2T= (n.4272+2T=) c.3630+2T= (n.3630+2T=) c.1140+2T= (n.1140+2T=) n.5055+2T= | |
10 | g.71740953G>A | CA645555987 | CDH23 | c.4617+3G>A (n.4617+3G>A) c.4632+3G>A (n.4632+3G>A) n.1306+3G>A c.4812+3G>A (n.4812+3G>A) c.4746+3G>A (n.4746+3G>A) c.4809+3G>A (n.4809+3G>A) c.4806+3G>A (n.4806+3G>A) c.4752+3G>A (n.4752+3G>A) c.4677+3G>A (n.4677+3G>A) c.4272+3G>A (n.4272+3G>A) c.3630+3G>A (n.3630+3G>A) c.1140+3G>A (n.1140+3G>A) n.5055+3G>A | gnomAD v4 COSMIC COSMIC |
10 | g.71740954A= | CA1918853877 | CDH23 | c.4617+4A= (n.4617+4A=) c.4632+4A= (n.4632+4A=) n.1306+4A= c.4812+4A= (n.4812+4A=) c.4746+4A= (n.4746+4A=) c.4809+4A= (n.4809+4A=) c.4806+4A= (n.4806+4A=) c.4752+4A= (n.4752+4A=) c.4677+4A= (n.4677+4A=) c.4272+4A= (n.4272+4A=) c.3630+4A= (n.3630+4A=) c.1140+4A= (n.1140+4A=) n.5055+4A= | |
10 | g.71740954A>C | CA1918853878 | CDH23 | c.4617+4A>C (n.4617+4A>C) c.4632+4A>C (n.4632+4A>C) n.1306+4A>C c.4812+4A>C (n.4812+4A>C) c.4746+4A>C (n.4746+4A>C) c.4809+4A>C (n.4809+4A>C) c.4806+4A>C (n.4806+4A>C) c.4752+4A>C (n.4752+4A>C) c.4677+4A>C (n.4677+4A>C) c.4272+4A>C (n.4272+4A>C) c.3630+4A>C (n.3630+4A>C) c.1140+4A>C (n.1140+4A>C) n.5055+4A>C | dbSNP |
10 | g.71740955G>A | CA5545097 | CDH23 | c.4617+5G>A (n.4617+5G>A) c.4632+5G>A (n.4632+5G>A) n.1306+5G>A c.4812+5G>A (n.4812+5G>A) c.4746+5G>A (n.4746+5G>A) c.4809+5G>A (n.4809+5G>A) c.4806+5G>A (n.4806+5G>A) c.4752+5G>A (n.4752+5G>A) c.4677+5G>A (n.4677+5G>A) c.4272+5G>A (n.4272+5G>A) c.3630+5G>A (n.3630+5G>A) c.1140+5G>A (n.1140+5G>A) n.5055+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740955G>C | CA5545096 | CDH23 | c.4617+5G>C (n.4617+5G>C) c.4632+5G>C (n.4632+5G>C) n.1306+5G>C c.4812+5G>C (n.4812+5G>C) c.4746+5G>C (n.4746+5G>C) c.4809+5G>C (n.4809+5G>C) c.4806+5G>C (n.4806+5G>C) c.4752+5G>C (n.4752+5G>C) c.4677+5G>C (n.4677+5G>C) c.4272+5G>C (n.4272+5G>C) c.3630+5G>C (n.3630+5G>C) c.1140+5G>C (n.1140+5G>C) n.5055+5G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740955G= | CA1918853879 | CDH23 | c.4617+5G= (n.4617+5G=) c.4632+5G= (n.4632+5G=) n.1306+5G= c.4812+5G= (n.4812+5G=) c.4746+5G= (n.4746+5G=) c.4809+5G= (n.4809+5G=) c.4806+5G= (n.4806+5G=) c.4752+5G= (n.4752+5G=) c.4677+5G= (n.4677+5G=) c.4272+5G= (n.4272+5G=) c.3630+5G= (n.3630+5G=) c.1140+5G= (n.1140+5G=) n.5055+5G= | |
10 | g.71740956G>A | CA1918853881 | CDH23 | c.4617+6G>A (n.4617+6G>A) c.4632+6G>A (n.4632+6G>A) n.1306+6G>A c.4812+6G>A (n.4812+6G>A) c.4746+6G>A (n.4746+6G>A) c.4809+6G>A (n.4809+6G>A) c.4806+6G>A (n.4806+6G>A) c.4752+6G>A (n.4752+6G>A) c.4677+6G>A (n.4677+6G>A) c.4272+6G>A (n.4272+6G>A) c.3630+6G>A (n.3630+6G>A) c.1140+6G>A (n.1140+6G>A) n.5055+6G>A | dbSNP gnomAD v4 |
10 | g.71740956G= | CA1918853880 | CDH23 | c.4617+6G= (n.4617+6G=) c.4632+6G= (n.4632+6G=) n.1306+6G= c.4812+6G= (n.4812+6G=) c.4746+6G= (n.4746+6G=) c.4809+6G= (n.4809+6G=) c.4806+6G= (n.4806+6G=) c.4752+6G= (n.4752+6G=) c.4677+6G= (n.4677+6G=) c.4272+6G= (n.4272+6G=) c.3630+6G= (n.3630+6G=) c.1140+6G= (n.1140+6G=) n.5055+6G= | |
10 | g.71740957G>A | CA5545098 | CDH23 | c.4617+7G>A (n.4617+7G>A) c.4632+7G>A (n.4632+7G>A) n.1306+7G>A c.4812+7G>A (n.4812+7G>A) c.4746+7G>A (n.4746+7G>A) c.4809+7G>A (n.4809+7G>A) c.4806+7G>A (n.4806+7G>A) c.4752+7G>A (n.4752+7G>A) c.4677+7G>A (n.4677+7G>A) c.4272+7G>A (n.4272+7G>A) c.3630+7G>A (n.3630+7G>A) c.1140+7G>A (n.1140+7G>A) n.5055+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740957G= | CA1918853882 | CDH23 | c.4617+7G= (n.4617+7G=) c.4632+7G= (n.4632+7G=) n.1306+7G= c.4812+7G= (n.4812+7G=) c.4746+7G= (n.4746+7G=) c.4809+7G= (n.4809+7G=) c.4806+7G= (n.4806+7G=) c.4752+7G= (n.4752+7G=) c.4677+7G= (n.4677+7G=) c.4272+7G= (n.4272+7G=) c.3630+7G= (n.3630+7G=) c.1140+7G= (n.1140+7G=) n.5055+7G= | |
10 | g.71740957G>T | CA2609570250 | CDH23 | c.4617+7G>T (n.4617+7G>T) c.4632+7G>T (n.4632+7G>T) n.1306+7G>T c.4812+7G>T (n.4812+7G>T) c.4746+7G>T (n.4746+7G>T) c.4809+7G>T (n.4809+7G>T) c.4806+7G>T (n.4806+7G>T) c.4752+7G>T (n.4752+7G>T) c.4677+7G>T (n.4677+7G>T) c.4272+7G>T (n.4272+7G>T) c.3630+7G>T (n.3630+7G>T) c.1140+7G>T (n.1140+7G>T) n.5055+7G>T | gnomAD v4 |
10 | g.71740958C>A | CA137439 | CDH23 | c.4617+8C>A (n.4617+8C>A) c.4632+8C>A (n.4632+8C>A) n.1306+8C>A c.4812+8C>A (n.4812+8C>A) c.4746+8C>A (n.4746+8C>A) c.4809+8C>A (n.4809+8C>A) c.4806+8C>A (n.4806+8C>A) c.4752+8C>A (n.4752+8C>A) c.4677+8C>A (n.4677+8C>A) c.4272+8C>A (n.4272+8C>A) c.3630+8C>A (n.3630+8C>A) c.1140+8C>A (n.1140+8C>A) n.5055+8C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740958C= | CA1918853883 | CDH23 | c.4617+8C= (n.4617+8C=) c.4632+8C= (n.4632+8C=) n.1306+8C= c.4812+8C= (n.4812+8C=) c.4746+8C= (n.4746+8C=) c.4809+8C= (n.4809+8C=) c.4806+8C= (n.4806+8C=) c.4752+8C= (n.4752+8C=) c.4677+8C= (n.4677+8C=) c.4272+8C= (n.4272+8C=) c.3630+8C= (n.3630+8C=) c.1140+8C= (n.1140+8C=) n.5055+8C= | |
10 | g.71740960G>A | CA2609570257 | CDH23 | c.4617+10G>A (n.4617+10G>A) c.4632+10G>A (n.4632+10G>A) n.1306+10G>A c.4812+10G>A (n.4812+10G>A) c.4746+10G>A (n.4746+10G>A) c.4809+10G>A (n.4809+10G>A) c.4806+10G>A (n.4806+10G>A) c.4752+10G>A (n.4752+10G>A) c.4677+10G>A (n.4677+10G>A) c.4272+10G>A (n.4272+10G>A) c.3630+10G>A (n.3630+10G>A) c.1140+10G>A (n.1140+10G>A) n.5055+10G>A | gnomAD v4 |
10 | g.71740960G= | CA1918853884 | CDH23 | c.4617+10G= (n.4617+10G=) c.4632+10G= (n.4632+10G=) n.1306+10G= c.4812+10G= (n.4812+10G=) c.4746+10G= (n.4746+10G=) c.4809+10G= (n.4809+10G=) c.4806+10G= (n.4806+10G=) c.4752+10G= (n.4752+10G=) c.4677+10G= (n.4677+10G=) c.4272+10G= (n.4272+10G=) c.3630+10G= (n.3630+10G=) c.1140+10G= (n.1140+10G=) n.5055+10G= | |
10 | g.71740960G>T | CA1918853885 | CDH23 | c.4617+10G>T (n.4617+10G>T) c.4632+10G>T (n.4632+10G>T) n.1306+10G>T c.4812+10G>T (n.4812+10G>T) c.4746+10G>T (n.4746+10G>T) c.4809+10G>T (n.4809+10G>T) c.4806+10G>T (n.4806+10G>T) c.4752+10G>T (n.4752+10G>T) c.4677+10G>T (n.4677+10G>T) c.4272+10G>T (n.4272+10G>T) c.3630+10G>T (n.3630+10G>T) c.1140+10G>T (n.1140+10G>T) n.5055+10G>T | ClinVar dbSNP gnomAD v4 |
10 | g.71740961C= | CA1918853886 | CDH23 | c.4617+11C= (n.4617+11C=) c.4632+11C= (n.4632+11C=) n.1306+11C= c.4812+11C= (n.4812+11C=) c.4746+11C= (n.4746+11C=) c.4809+11C= (n.4809+11C=) c.4806+11C= (n.4806+11C=) c.4752+11C= (n.4752+11C=) c.4677+11C= (n.4677+11C=) c.4272+11C= (n.4272+11C=) c.3630+11C= (n.3630+11C=) c.1140+11C= (n.1140+11C=) n.5055+11C= | |
10 | g.71740961C>T | CA668097738 | CDH23 | c.4617+11C>T (n.4617+11C>T) c.4632+11C>T (n.4632+11C>T) n.1306+11C>T c.4812+11C>T (n.4812+11C>T) c.4746+11C>T (n.4746+11C>T) c.4809+11C>T (n.4809+11C>T) c.4806+11C>T (n.4806+11C>T) c.4752+11C>T (n.4752+11C>T) c.4677+11C>T (n.4677+11C>T) c.4272+11C>T (n.4272+11C>T) c.3630+11C>T (n.3630+11C>T) c.1140+11C>T (n.1140+11C>T) n.5055+11C>T | dbSNP |
10 | g.71740962C>T | CA2697558443 | CDH23 | c.4617+12C>T (n.4617+12C>T) c.4632+12C>T (n.4632+12C>T) n.1306+12C>T c.4812+12C>T (n.4812+12C>T) c.4746+12C>T (n.4746+12C>T) c.4809+12C>T (n.4809+12C>T) c.4806+12C>T (n.4806+12C>T) c.4752+12C>T (n.4752+12C>T) c.4677+12C>T (n.4677+12C>T) c.4272+12C>T (n.4272+12C>T) c.3630+12C>T (n.3630+12C>T) c.1140+12C>T (n.1140+12C>T) n.5055+12C>T | ClinVar |
10 | g.71740964C= | CA1918853887 | CDH23 | c.4617+14C= (n.4617+14C=) c.4632+14C= (n.4632+14C=) n.1306+14C= c.4812+14C= (n.4812+14C=) c.4746+14C= (n.4746+14C=) c.4809+14C= (n.4809+14C=) c.4806+14C= (n.4806+14C=) c.4752+14C= (n.4752+14C=) c.4677+14C= (n.4677+14C=) c.4272+14C= (n.4272+14C=) c.3630+14C= (n.3630+14C=) c.1140+14C= (n.1140+14C=) n.5055+14C= | |
10 | g.71740964C>G | CA5545099 | CDH23 | c.4617+14C>G (n.4617+14C>G) c.4632+14C>G (n.4632+14C>G) n.1306+14C>G c.4812+14C>G (n.4812+14C>G) c.4746+14C>G (n.4746+14C>G) c.4809+14C>G (n.4809+14C>G) c.4806+14C>G (n.4806+14C>G) c.4752+14C>G (n.4752+14C>G) c.4677+14C>G (n.4677+14C>G) c.4272+14C>G (n.4272+14C>G) c.3630+14C>G (n.3630+14C>G) c.1140+14C>G (n.1140+14C>G) n.5055+14C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71740964C>T | CA209486382 | CDH23 | c.4617+14C>T (n.4617+14C>T) c.4632+14C>T (n.4632+14C>T) n.1306+14C>T c.4812+14C>T (n.4812+14C>T) c.4746+14C>T (n.4746+14C>T) c.4809+14C>T (n.4809+14C>T) c.4806+14C>T (n.4806+14C>T) c.4752+14C>T (n.4752+14C>T) c.4677+14C>T (n.4677+14C>T) c.4272+14C>T (n.4272+14C>T) c.3630+14C>T (n.3630+14C>T) c.1140+14C>T (n.1140+14C>T) n.5055+14C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740965G>A | CA5545100 | CDH23 | c.4617+15G>A (n.4617+15G>A) c.4632+15G>A (n.4632+15G>A) n.1306+15G>A c.4812+15G>A (n.4812+15G>A) c.4746+15G>A (n.4746+15G>A) c.4809+15G>A (n.4809+15G>A) c.4806+15G>A (n.4806+15G>A) c.4752+15G>A (n.4752+15G>A) c.4677+15G>A (n.4677+15G>A) c.4272+15G>A (n.4272+15G>A) c.3630+15G>A (n.3630+15G>A) c.1140+15G>A (n.1140+15G>A) n.5055+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71740965G= | CA1918853888 | CDH23 | c.4617+15G= (n.4617+15G=) c.4632+15G= (n.4632+15G=) n.1306+15G= c.4812+15G= (n.4812+15G=) c.4746+15G= (n.4746+15G=) c.4809+15G= (n.4809+15G=) c.4806+15G= (n.4806+15G=) c.4752+15G= (n.4752+15G=) c.4677+15G= (n.4677+15G=) c.4272+15G= (n.4272+15G=) c.3630+15G= (n.3630+15G=) c.1140+15G= (n.1140+15G=) n.5055+15G= | |
10 | g.71740968del | CA2697558444 | CDH23 | c.4617+18del (n.4617+18del) c.4632+18del (n.4632+18del) n.1306+18del c.4812+18del (n.4812+18del) c.4746+18del (n.4746+18del) c.4809+18del (n.4809+18del) c.4806+18del (n.4806+18del) c.4752+18del (n.4752+18del) c.4677+18del (n.4677+18del) c.4272+18del (n.4272+18del) c.3630+18del (n.3630+18del) c.1140+18del (n.1140+18del) n.5055+18del | ClinVar |
10 | g.71740966G>A | CA2574575085 | CDH23 | c.4617+16G>A (n.4617+16G>A) c.4632+16G>A (n.4632+16G>A) n.1306+16G>A c.4812+16G>A (n.4812+16G>A) c.4746+16G>A (n.4746+16G>A) c.4809+16G>A (n.4809+16G>A) c.4806+16G>A (n.4806+16G>A) c.4752+16G>A (n.4752+16G>A) c.4677+16G>A (n.4677+16G>A) c.4272+16G>A (n.4272+16G>A) c.3630+16G>A (n.3630+16G>A) c.1140+16G>A (n.1140+16G>A) n.5055+16G>A |