| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71645934_71645955delinsTGGCCATCCCACTGGACTACGA | CA1918809284 | CDH23 | c.1244_1265delinsTGGCCATCCCACTGGACTACGA (p.Val415=) c.675_696delinsTGGCCATCCCACTGGACTACGA n.1080_1101delinsTGGCCATCCCACTGGACTACGA c.908_929delinsTGGCCATCCCACTGGACTACGA (p.Val303=) c.1259_1280delinsTGGCCATCCCACTGGACTACGA (p.Val420=) c.989_1010delinsTGGCCATCCCACTGGACTACGA (p.Val330=) c.19_40delinsTGGCCATCCCACTGGACTACGA c.213_234delinsTGGCCATCCCACTGGACTACGA c.1439_1460delinsTGGCCATCCCACTGGACTACGA (p.Val480=) c.1373_1394delinsTGGCCATCCCACTGGACTACGA (p.Val458=) c.1433_1454delinsTGGCCATCCCACTGGACTACGA (p.Val478=) c.1379_1400delinsTGGCCATCCCACTGGACTACGA (p.Val460=) c.1304_1325delinsTGGCCATCCCACTGGACTACGA (p.Val435=) c.899_920delinsTGGCCATCCCACTGGACTACGA (p.Val300=) c.257_278delinsTGGCCATCCCACTGGACTACGA (p.Val86=) n.1682_1703delinsTGGCCATCCCACTGGACTACGA | |
| 10 | g.71645935G>A | CA470058003 | CDH23 | c.1245G>A (p.Val415=) c.676G>A n.1081G>A c.909G>A (p.Val303=) c.1260G>A (p.Val420=) c.990G>A (p.Val330=) c.20G>A c.214G>A c.1440G>A (p.Val480=) c.1374G>A (p.Val458=) c.1434G>A (p.Val478=) c.1380G>A (p.Val460=) c.1305G>A (p.Val435=) c.900G>A (p.Val300=) c.258G>A (p.Val86=) n.1683G>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71645935G>C | CA470058004 | CDH23 | c.1245G>C (p.Val415=) c.676G>C n.1081G>C c.909G>C (p.Val303=) c.1260G>C (p.Val420=) c.990G>C (p.Val330=) c.20G>C c.214G>C c.1440G>C (p.Val480=) c.1374G>C (p.Val458=) c.1434G>C (p.Val478=) c.1380G>C (p.Val460=) c.1305G>C (p.Val435=) c.900G>C (p.Val300=) c.258G>C (p.Val86=) n.1683G>C | |
| 10 | g.71645935G= | CA1918809285 | CDH23 | c.1245G= (p.Val415=) c.676G= n.1081G= c.909G= (p.Val303=) c.1260G= (p.Val420=) c.990G= (p.Val330=) c.20G= c.214G= c.1440G= (p.Val480=) c.1374G= (p.Val458=) c.1434G= (p.Val478=) c.1380G= (p.Val460=) c.1305G= (p.Val435=) c.900G= (p.Val300=) c.258G= (p.Val86=) n.1683G= | |
| 10 | g.71645935G>T | CA470058005 | CDH23 | c.1245G>T (p.Val415=) c.676G>T n.1081G>T c.909G>T (p.Val303=) c.1260G>T (p.Val420=) c.990G>T (p.Val330=) c.20G>T c.214G>T c.1440G>T (p.Val480=) c.1374G>T (p.Val458=) c.1434G>T (p.Val478=) c.1380G>T (p.Val460=) c.1305G>T (p.Val435=) c.900G>T (p.Val300=) c.258G>T (p.Val86=) n.1683G>T | |
| 10 | g.71645936_71645956del | CA261773 | CDH23 | c.1246_1266del (p.Ala416_Glu422del) c.677_697del n.1082_1102del c.910_930del (p.Ala304_Glu310del) c.1261_1281del (p.Ala421_Glu427del) c.991_1011del (p.Ala331_Glu337del) c.21_41del c.215_235del c.1441_1461del (p.Ala481_Glu487del) c.1375_1395del (p.Ala459_Glu465del) c.1435_1455del (p.Ala479_Glu485del) c.1381_1401del (p.Ala461_Glu467del) c.1306_1326del (p.Ala436_Glu442del) c.901_921del (p.Ala301_Glu307del) c.259_279del (p.Ala87_Glu93del) n.1684_1704del | ClinVar dbSNP gnomAD v4 |
| 10 | g.71645936G>A | CA377127787 | CDH23 | c.1246G>A (p.Ala416Thr) c.677G>A n.1082G>A c.910G>A (p.Ala304Thr) c.1261G>A (p.Ala421Thr) c.991G>A (p.Ala331Thr) c.21G>A c.215G>A c.1441G>A (p.Ala481Thr) c.1375G>A (p.Ala459Thr) c.1435G>A (p.Ala479Thr) c.1381G>A (p.Ala461Thr) c.1306G>A (p.Ala436Thr) c.901G>A (p.Ala301Thr) c.259G>A (p.Ala87Thr) n.1684G>A | dbSNP |
| 10 | g.71645936G>C | CA377127788 | CDH23 | c.1246G>C (p.Ala416Pro) c.677G>C n.1082G>C c.910G>C (p.Ala304Pro) c.1261G>C (p.Ala421Pro) c.991G>C (p.Ala331Pro) c.21G>C c.215G>C c.1441G>C (p.Ala481Pro) c.1375G>C (p.Ala459Pro) c.1435G>C (p.Ala479Pro) c.1381G>C (p.Ala461Pro) c.1306G>C (p.Ala436Pro) c.901G>C (p.Ala301Pro) c.259G>C (p.Ala87Pro) n.1684G>C | |
| 10 | g.71645936G>T | CA377127789 | CDH23 | c.1246G>T (p.Ala416Ser) c.677G>T n.1082G>T c.910G>T (p.Ala304Ser) c.1261G>T (p.Ala421Ser) c.991G>T (p.Ala331Ser) c.21G>T c.215G>T c.1441G>T (p.Ala481Ser) c.1375G>T (p.Ala459Ser) c.1435G>T (p.Ala479Ser) c.1381G>T (p.Ala461Ser) c.1306G>T (p.Ala436Ser) c.901G>T (p.Ala301Ser) c.259G>T (p.Ala87Ser) n.1684G>T | |
| 10 | g.71645937C>A | CA377127790 | CDH23 | c.1247C>A (p.Ala416Asp) c.678C>A n.1083C>A c.911C>A (p.Ala304Asp) c.1262C>A (p.Ala421Asp) c.992C>A (p.Ala331Asp) c.22C>A c.216C>A c.1442C>A (p.Ala481Asp) c.1376C>A (p.Ala459Asp) c.1436C>A (p.Ala479Asp) c.1382C>A (p.Ala461Asp) c.1307C>A (p.Ala436Asp) c.902C>A (p.Ala301Asp) c.260C>A (p.Ala87Asp) n.1685C>A | |
| 10 | g.71645937C>G | CA377127791 | CDH23 | c.1247C>G (p.Ala416Gly) c.678C>G n.1083C>G c.911C>G (p.Ala304Gly) c.1262C>G (p.Ala421Gly) c.992C>G (p.Ala331Gly) c.22C>G c.216C>G c.1442C>G (p.Ala481Gly) c.1376C>G (p.Ala459Gly) c.1436C>G (p.Ala479Gly) c.1382C>G (p.Ala461Gly) c.1307C>G (p.Ala436Gly) c.902C>G (p.Ala301Gly) c.260C>G (p.Ala87Gly) n.1685C>G | |
| 10 | g.71645937C>T | CA377127792 | CDH23 | c.1247C>T (p.Ala416Val) c.678C>T n.1083C>T c.911C>T (p.Ala304Val) c.1262C>T (p.Ala421Val) c.992C>T (p.Ala331Val) c.22C>T c.216C>T c.1442C>T (p.Ala481Val) c.1376C>T (p.Ala459Val) c.1436C>T (p.Ala479Val) c.1382C>T (p.Ala461Val) c.1307C>T (p.Ala436Val) c.902C>T (p.Ala301Val) c.260C>T (p.Ala87Val) n.1685C>T | dbSNP gnomAD v4 |
| 10 | g.71645938C>A | CA470058006 | CDH23 | c.1248C>A (p.Ala416=) c.679C>A n.1084C>A c.912C>A (p.Ala304=) c.1263C>A (p.Ala421=) c.993C>A (p.Ala331=) c.23C>A c.217C>A c.1443C>A (p.Ala481=) c.1377C>A (p.Ala459=) c.1437C>A (p.Ala479=) c.1383C>A (p.Ala461=) c.1308C>A (p.Ala436=) c.903C>A (p.Ala301=) c.261C>A (p.Ala87=) n.1686C>A | |
| 10 | g.71645938C>G | CA470058007 | CDH23 | c.1248C>G (p.Ala416=) c.679C>G n.1084C>G c.912C>G (p.Ala304=) c.1263C>G (p.Ala421=) c.993C>G (p.Ala331=) c.23C>G c.217C>G c.1443C>G (p.Ala481=) c.1377C>G (p.Ala459=) c.1437C>G (p.Ala479=) c.1383C>G (p.Ala461=) c.1308C>G (p.Ala436=) c.903C>G (p.Ala301=) c.261C>G (p.Ala87=) n.1686C>G | |
| 10 | g.71645938C>T | CA470058008 | CDH23 | c.1248C>T (p.Ala416=) c.679C>T n.1084C>T c.912C>T (p.Ala304=) c.1263C>T (p.Ala421=) c.993C>T (p.Ala331=) c.23C>T c.217C>T c.1443C>T (p.Ala481=) c.1377C>T (p.Ala459=) c.1437C>T (p.Ala479=) c.1383C>T (p.Ala461=) c.1308C>T (p.Ala436=) c.903C>T (p.Ala301=) c.261C>T (p.Ala87=) n.1686C>T | gnomAD v4 |
| 10 | g.71645939A= | CA1918809286 | CDH23 | c.1249A= (p.Ile417=) c.680A= n.1085A= c.913A= (p.Ile305=) c.1264A= (p.Ile422=) c.994A= (p.Ile332=) c.24A= c.218A= c.1444A= (p.Ile482=) c.1378A= (p.Ile460=) c.1438A= (p.Ile480=) c.1384A= (p.Ile462=) c.1309A= (p.Ile437=) c.904A= (p.Ile302=) c.262A= (p.Ile88=) n.1687A= | |
| 10 | g.71645939A>C | CA377127793 | CDH23 | c.1249A>C (p.Ile417Leu) c.680A>C n.1085A>C c.913A>C (p.Ile305Leu) c.1264A>C (p.Ile422Leu) c.994A>C (p.Ile332Leu) c.24A>C c.218A>C c.1444A>C (p.Ile482Leu) c.1378A>C (p.Ile460Leu) c.1438A>C (p.Ile480Leu) c.1384A>C (p.Ile462Leu) c.1309A>C (p.Ile437Leu) c.904A>C (p.Ile302Leu) c.262A>C (p.Ile88Leu) n.1687A>C | |
| 10 | g.71645939A>G | CA209442340 | CDH23 | c.1249A>G (p.Ile417Val) c.680A>G n.1085A>G c.913A>G (p.Ile305Val) c.1264A>G (p.Ile422Val) c.994A>G (p.Ile332Val) c.24A>G c.218A>G c.1444A>G (p.Ile482Val) c.1378A>G (p.Ile460Val) c.1438A>G (p.Ile480Val) c.1384A>G (p.Ile462Val) c.1309A>G (p.Ile437Val) c.904A>G (p.Ile302Val) c.262A>G (p.Ile88Val) n.1687A>G | dbSNP gnomAD v4 |
| 10 | g.71645939A>T | CA377127794 | CDH23 | c.1249A>T (p.Ile417Phe) c.680A>T n.1085A>T c.913A>T (p.Ile305Phe) c.1264A>T (p.Ile422Phe) c.994A>T (p.Ile332Phe) c.24A>T c.218A>T c.1444A>T (p.Ile482Phe) c.1378A>T (p.Ile460Phe) c.1438A>T (p.Ile480Phe) c.1384A>T (p.Ile462Phe) c.1309A>T (p.Ile437Phe) c.904A>T (p.Ile302Phe) c.262A>T (p.Ile88Phe) n.1687A>T | |
| 10 | g.71645940T>A | CA377127796 | CDH23 | c.1250T>A (p.Ile417Asn) c.681T>A n.1086T>A c.914T>A (p.Ile305Asn) c.1265T>A (p.Ile422Asn) c.995T>A (p.Ile332Asn) c.25T>A c.219T>A c.1445T>A (p.Ile482Asn) c.1379T>A (p.Ile460Asn) c.1439T>A (p.Ile480Asn) c.1385T>A (p.Ile462Asn) c.1310T>A (p.Ile437Asn) c.905T>A (p.Ile302Asn) c.263T>A (p.Ile88Asn) n.1688T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71645940T>C | CA377127797 | CDH23 | c.1250T>C (p.Ile417Thr) c.681T>C n.1086T>C c.914T>C (p.Ile305Thr) c.1265T>C (p.Ile422Thr) c.995T>C (p.Ile332Thr) c.25T>C c.219T>C c.1445T>C (p.Ile482Thr) c.1379T>C (p.Ile460Thr) c.1439T>C (p.Ile480Thr) c.1385T>C (p.Ile462Thr) c.1310T>C (p.Ile437Thr) c.905T>C (p.Ile302Thr) c.263T>C (p.Ile88Thr) n.1688T>C | |
| 10 | g.71645940T>G | CA377127795 | CDH23 | c.1250T>G (p.Ile417Ser) c.681T>G n.1086T>G c.914T>G (p.Ile305Ser) c.1265T>G (p.Ile422Ser) c.995T>G (p.Ile332Ser) c.25T>G c.219T>G c.1445T>G (p.Ile482Ser) c.1379T>G (p.Ile460Ser) c.1439T>G (p.Ile480Ser) c.1385T>G (p.Ile462Ser) c.1310T>G (p.Ile437Ser) c.905T>G (p.Ile302Ser) c.263T>G (p.Ile88Ser) n.1688T>G | |
| 10 | g.71645940T= | CA1918809287 | CDH23 | c.1250T= (p.Ile417=) c.681T= n.1086T= c.914T= (p.Ile305=) c.1265T= (p.Ile422=) c.995T= (p.Ile332=) c.25T= c.219T= c.1445T= (p.Ile482=) c.1379T= (p.Ile460=) c.1439T= (p.Ile480=) c.1385T= (p.Ile462=) c.1310T= (p.Ile437=) c.905T= (p.Ile302=) c.263T= (p.Ile88=) n.1688T= | |
| 10 | g.71645941C>A | CA470058009 | CDH23 | c.1251C>A (p.Ile417=) c.682C>A n.1087C>A c.915C>A (p.Ile305=) c.1266C>A (p.Ile422=) c.996C>A (p.Ile332=) c.26C>A c.220C>A c.1446C>A (p.Ile482=) c.1380C>A (p.Ile460=) c.1440C>A (p.Ile480=) c.1386C>A (p.Ile462=) c.1311C>A (p.Ile437=) c.906C>A (p.Ile302=) c.264C>A (p.Ile88=) n.1689C>A | |
| 10 | g.71645941C>G | CA377127798 | CDH23 | c.1251C>G (p.Ile417Met) c.682C>G n.1087C>G c.915C>G (p.Ile305Met) c.1266C>G (p.Ile422Met) c.996C>G (p.Ile332Met) c.26C>G c.220C>G c.1446C>G (p.Ile482Met) c.1380C>G (p.Ile460Met) c.1440C>G (p.Ile480Met) c.1386C>G (p.Ile462Met) c.1311C>G (p.Ile437Met) c.906C>G (p.Ile302Met) c.264C>G (p.Ile88Met) n.1689C>G | |
| 10 | g.71645941C>T | CA470058010 | CDH23 | c.1251C>T (p.Ile417=) c.682C>T n.1087C>T c.915C>T (p.Ile305=) c.1266C>T (p.Ile422=) c.996C>T (p.Ile332=) c.26C>T c.220C>T c.1446C>T (p.Ile482=) c.1380C>T (p.Ile460=) c.1440C>T (p.Ile480=) c.1386C>T (p.Ile462=) c.1311C>T (p.Ile437=) c.906C>T (p.Ile302=) c.264C>T (p.Ile88=) n.1689C>T | |
| 10 | g.71645942C>A | CA377127799 | CDH23 | c.1252C>A (p.Pro418Thr) c.683C>A n.1088C>A c.916C>A (p.Pro306Thr) c.1267C>A (p.Pro423Thr) c.997C>A (p.Pro333Thr) c.27C>A c.221C>A c.1447C>A (p.Pro483Thr) c.1381C>A (p.Pro461Thr) c.1441C>A (p.Pro481Thr) c.1387C>A (p.Pro463Thr) c.1312C>A (p.Pro438Thr) c.907C>A (p.Pro303Thr) c.265C>A (p.Pro89Thr) n.1690C>A | |
| 10 | g.71645942C>G | CA377127801 | CDH23 | c.1252C>G (p.Pro418Ala) c.683C>G n.1088C>G c.916C>G (p.Pro306Ala) c.1267C>G (p.Pro423Ala) c.997C>G (p.Pro333Ala) c.27C>G c.221C>G c.1447C>G (p.Pro483Ala) c.1381C>G (p.Pro461Ala) c.1441C>G (p.Pro481Ala) c.1387C>G (p.Pro463Ala) c.1312C>G (p.Pro438Ala) c.907C>G (p.Pro303Ala) c.265C>G (p.Pro89Ala) n.1690C>G | gnomAD v4 |
| 10 | g.71645942C>T | CA377127800 | CDH23 | c.1252C>T (p.Pro418Ser) c.683C>T n.1088C>T c.916C>T (p.Pro306Ser) c.1267C>T (p.Pro423Ser) c.997C>T (p.Pro333Ser) c.27C>T c.221C>T c.1447C>T (p.Pro483Ser) c.1381C>T (p.Pro461Ser) c.1441C>T (p.Pro481Ser) c.1387C>T (p.Pro463Ser) c.1312C>T (p.Pro438Ser) c.907C>T (p.Pro303Ser) c.265C>T (p.Pro89Ser) n.1690C>T | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.71645943C>A | CA377127802 | CDH23 | c.1253C>A (p.Pro418Gln) c.684C>A n.1089C>A c.917C>A (p.Pro306Gln) c.1268C>A (p.Pro423Gln) c.998C>A (p.Pro333Gln) c.28C>A c.222C>A c.1448C>A (p.Pro483Gln) c.1382C>A (p.Pro461Gln) c.1442C>A (p.Pro481Gln) c.1388C>A (p.Pro463Gln) c.1313C>A (p.Pro438Gln) c.908C>A (p.Pro303Gln) c.266C>A (p.Pro89Gln) n.1691C>A | |
| 10 | g.71645943C= | CA1918809288 | CDH23 | c.1253C= (p.Pro418=) c.684C= n.1089C= c.917C= (p.Pro306=) c.1268C= (p.Pro423=) c.998C= (p.Pro333=) c.28C= c.222C= c.1448C= (p.Pro483=) c.1382C= (p.Pro461=) c.1442C= (p.Pro481=) c.1388C= (p.Pro463=) c.1313C= (p.Pro438=) c.908C= (p.Pro303=) c.266C= (p.Pro89=) n.1691C= | |
| 10 | g.71645943C>G | CA377127803 | CDH23 | c.1253C>G (p.Pro418Arg) c.684C>G n.1089C>G c.917C>G (p.Pro306Arg) c.1268C>G (p.Pro423Arg) c.998C>G (p.Pro333Arg) c.28C>G c.222C>G c.1448C>G (p.Pro483Arg) c.1382C>G (p.Pro461Arg) c.1442C>G (p.Pro481Arg) c.1388C>G (p.Pro463Arg) c.1313C>G (p.Pro438Arg) c.908C>G (p.Pro303Arg) c.266C>G (p.Pro89Arg) n.1691C>G | |
| 10 | g.71645943C>T | CA5543742 | CDH23 | c.1253C>T (p.Pro418Leu) c.684C>T n.1089C>T c.917C>T (p.Pro306Leu) c.1268C>T (p.Pro423Leu) c.998C>T (p.Pro333Leu) c.28C>T c.222C>T c.1448C>T (p.Pro483Leu) c.1382C>T (p.Pro461Leu) c.1442C>T (p.Pro481Leu) c.1388C>T (p.Pro463Leu) c.1313C>T (p.Pro438Leu) c.908C>T (p.Pro303Leu) c.266C>T (p.Pro89Leu) n.1691C>T | dbSNP ExAC gnomAD v2 |
| 10 | g.71645944A>C | CA470058013 | CDH23 | c.1254A>C (p.Pro418=) c.685A>C n.1090A>C c.918A>C (p.Pro306=) c.1269A>C (p.Pro423=) c.999A>C (p.Pro333=) c.29A>C c.223A>C c.1449A>C (p.Pro483=) c.1383A>C (p.Pro461=) c.1443A>C (p.Pro481=) c.1389A>C (p.Pro463=) c.1314A>C (p.Pro438=) c.909A>C (p.Pro303=) c.267A>C (p.Pro89=) n.1692A>C | |
| 10 | g.71645944A>G | CA470058011 | CDH23 | c.1254A>G (p.Pro418=) c.685A>G n.1090A>G c.918A>G (p.Pro306=) c.1269A>G (p.Pro423=) c.999A>G (p.Pro333=) c.29A>G c.223A>G c.1449A>G (p.Pro483=) c.1383A>G (p.Pro461=) c.1443A>G (p.Pro481=) c.1389A>G (p.Pro463=) c.1314A>G (p.Pro438=) c.909A>G (p.Pro303=) c.267A>G (p.Pro89=) n.1692A>G | |
| 10 | g.71645944A>T | CA470058012 | CDH23 | c.1254A>T (p.Pro418=) c.685A>T n.1090A>T c.918A>T (p.Pro306=) c.1269A>T (p.Pro423=) c.999A>T (p.Pro333=) c.29A>T c.223A>T c.1449A>T (p.Pro483=) c.1383A>T (p.Pro461=) c.1443A>T (p.Pro481=) c.1389A>T (p.Pro463=) c.1314A>T (p.Pro438=) c.909A>T (p.Pro303=) c.267A>T (p.Pro89=) n.1692A>T | |
| 10 | g.71645945del | CA2695212101 | CDH23 | c.1255del (p.Leu419TrpfsTer28) c.686del n.1091del c.919del (p.Leu307TrpfsTer28) c.1270del (p.Leu424TrpfsTer28) c.1000del (p.Leu334TrpfsTer28) c.30del c.224del c.1450del (p.Leu484TrpfsTer28) c.1384del (p.Leu462TrpfsTer28) c.1444del (p.Leu482TrpfsTer28) c.1390del (p.Leu464TrpfsTer28) c.1315del (p.Leu439TrpfsTer28) c.910del (p.Leu304TrpfsTer28) c.268del (p.Leu90TrpfsTer28) n.1693del | |
| 10 | g.71645945C>A | CA377127804 | CDH23 | c.1255C>A (p.Leu419Met) c.686C>A n.1091C>A c.919C>A (p.Leu307Met) c.1270C>A (p.Leu424Met) c.1000C>A (p.Leu334Met) c.30C>A c.224C>A c.1450C>A (p.Leu484Met) c.1384C>A (p.Leu462Met) c.1444C>A (p.Leu482Met) c.1390C>A (p.Leu464Met) c.1315C>A (p.Leu439Met) c.910C>A (p.Leu304Met) c.268C>A (p.Leu90Met) n.1693C>A | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71645945C= | CA1918809289 | CDH23 | c.1255C= (p.Leu419=) c.686C= n.1091C= c.919C= (p.Leu307=) c.1270C= (p.Leu424=) c.1000C= (p.Leu334=) c.30C= c.224C= c.1450C= (p.Leu484=) c.1384C= (p.Leu462=) c.1444C= (p.Leu482=) c.1390C= (p.Leu464=) c.1315C= (p.Leu439=) c.910C= (p.Leu304=) c.268C= (p.Leu90=) n.1693C= | |
| 10 | g.71645945C>G | CA377127805 | CDH23 | c.1255C>G (p.Leu419Val) c.686C>G n.1091C>G c.919C>G (p.Leu307Val) c.1270C>G (p.Leu424Val) c.1000C>G (p.Leu334Val) c.30C>G c.224C>G c.1450C>G (p.Leu484Val) c.1384C>G (p.Leu462Val) c.1444C>G (p.Leu482Val) c.1390C>G (p.Leu464Val) c.1315C>G (p.Leu439Val) c.910C>G (p.Leu304Val) c.268C>G (p.Leu90Val) n.1693C>G | |
| 10 | g.71645945C>T | CA470058014 | CDH23 | c.1255C>T (p.Leu419=) c.686C>T n.1091C>T c.919C>T (p.Leu307=) c.1270C>T (p.Leu424=) c.1000C>T (p.Leu334=) c.30C>T c.224C>T c.1450C>T (p.Leu484=) c.1384C>T (p.Leu462=) c.1444C>T (p.Leu482=) c.1390C>T (p.Leu464=) c.1315C>T (p.Leu439=) c.910C>T (p.Leu304=) c.268C>T (p.Leu90=) n.1693C>T | |
| 10 | g.71645946T>A | CA377127806 | CDH23 | c.1256T>A (p.Leu419Gln) c.687T>A n.1092T>A c.920T>A (p.Leu307Gln) c.1271T>A (p.Leu424Gln) c.1001T>A (p.Leu334Gln) c.31T>A c.225T>A c.1451T>A (p.Leu484Gln) c.1385T>A (p.Leu462Gln) c.1445T>A (p.Leu482Gln) c.1391T>A (p.Leu464Gln) c.1316T>A (p.Leu439Gln) c.911T>A (p.Leu304Gln) c.269T>A (p.Leu90Gln) n.1694T>A | |
| 10 | g.71645946T>C | CA377127807 | CDH23 | c.1256T>C (p.Leu419Pro) c.687T>C n.1092T>C c.920T>C (p.Leu307Pro) c.1271T>C (p.Leu424Pro) c.1001T>C (p.Leu334Pro) c.31T>C c.225T>C c.1451T>C (p.Leu484Pro) c.1385T>C (p.Leu462Pro) c.1445T>C (p.Leu482Pro) c.1391T>C (p.Leu464Pro) c.1316T>C (p.Leu439Pro) c.911T>C (p.Leu304Pro) c.269T>C (p.Leu90Pro) n.1694T>C | gnomAD v4 |
| 10 | g.71645946T>G | CA377127808 | CDH23 | c.1256T>G (p.Leu419Arg) c.687T>G n.1092T>G c.920T>G (p.Leu307Arg) c.1271T>G (p.Leu424Arg) c.1001T>G (p.Leu334Arg) c.31T>G c.225T>G c.1451T>G (p.Leu484Arg) c.1385T>G (p.Leu462Arg) c.1445T>G (p.Leu482Arg) c.1391T>G (p.Leu464Arg) c.1316T>G (p.Leu439Arg) c.911T>G (p.Leu304Arg) c.269T>G (p.Leu90Arg) n.1694T>G | |
| 10 | g.71645947G>A | CA470058016 | CDH23 | c.1257G>A (p.Leu419=) c.688G>A n.1093G>A c.921G>A (p.Leu307=) c.1272G>A (p.Leu424=) c.1002G>A (p.Leu334=) c.32G>A c.226G>A c.1452G>A (p.Leu484=) c.1386G>A (p.Leu462=) c.1446G>A (p.Leu482=) c.1392G>A (p.Leu464=) c.1317G>A (p.Leu439=) c.912G>A (p.Leu304=) c.270G>A (p.Leu90=) n.1695G>A | |
| 10 | g.71645947G>C | CA209442357 | CDH23 | c.1257G>C (p.Leu419=) c.688G>C n.1093G>C c.921G>C (p.Leu307=) c.1272G>C (p.Leu424=) c.1002G>C (p.Leu334=) c.32G>C c.226G>C c.1452G>C (p.Leu484=) c.1386G>C (p.Leu462=) c.1446G>C (p.Leu482=) c.1392G>C (p.Leu464=) c.1317G>C (p.Leu439=) c.912G>C (p.Leu304=) c.270G>C (p.Leu90=) n.1695G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71645947G= | CA1918809290 | CDH23 | c.1257G= (p.Leu419=) c.688G= n.1093G= c.921G= (p.Leu307=) c.1272G= (p.Leu424=) c.1002G= (p.Leu334=) c.32G= c.226G= c.1452G= (p.Leu484=) c.1386G= (p.Leu462=) c.1446G= (p.Leu482=) c.1392G= (p.Leu464=) c.1317G= (p.Leu439=) c.912G= (p.Leu304=) c.270G= (p.Leu90=) n.1695G= | |
| 10 | g.71645947G>T | CA470058015 | CDH23 | c.1257G>T (p.Leu419=) c.688G>T n.1093G>T c.921G>T (p.Leu307=) c.1272G>T (p.Leu424=) c.1002G>T (p.Leu334=) c.32G>T c.226G>T c.1452G>T (p.Leu484=) c.1386G>T (p.Leu462=) c.1446G>T (p.Leu482=) c.1392G>T (p.Leu464=) c.1317G>T (p.Leu439=) c.912G>T (p.Leu304=) c.270G>T (p.Leu90=) n.1695G>T | |
| 10 | g.71645948G>A | CA377127809 | CDH23 | c.1258G>A (p.Asp420Asn) c.689G>A n.1094G>A c.922G>A (p.Asp308Asn) c.1273G>A (p.Asp425Asn) c.1003G>A (p.Asp335Asn) c.33G>A c.227G>A c.1453G>A (p.Asp485Asn) c.1387G>A (p.Asp463Asn) c.1447G>A (p.Asp483Asn) c.1393G>A (p.Asp465Asn) c.1318G>A (p.Asp440Asn) c.913G>A (p.Asp305Asn) c.271G>A (p.Asp91Asn) n.1696G>A | |
| 10 | g.71645948G>C | CA377127810 | CDH23 | c.1258G>C (p.Asp420His) c.689G>C n.1094G>C c.922G>C (p.Asp308His) c.1273G>C (p.Asp425His) c.1003G>C (p.Asp335His) c.33G>C c.227G>C c.1453G>C (p.Asp485His) c.1387G>C (p.Asp463His) c.1447G>C (p.Asp483His) c.1393G>C (p.Asp465His) c.1318G>C (p.Asp440His) c.913G>C (p.Asp305His) c.271G>C (p.Asp91His) n.1696G>C |