| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086551G>A | CA121684 | CLCN5 | c.1238G>A (p.Trp413Ter) c.488G>A (p.Trp163Ter) c.1028G>A (p.Trp343Ter) c.1525G>A c.*413G>A (n.*413G>A) c.1088G>A (p.Trp363Ter) c.1250G>A (p.Trp417Ter) | ClinVar dbSNP |
| X | g.50086551G>C | CA413185488 | CLCN5 | c.1238G>C (p.Trp413Ser) c.488G>C (p.Trp163Ser) c.1028G>C (p.Trp343Ser) c.1525G>C c.*413G>C (n.*413G>C) c.1088G>C (p.Trp363Ser) c.1250G>C (p.Trp417Ser) | |
| X | g.50086551G= | CA2428768901 | CLCN5 | c.1238G= (p.Trp413=) c.488G= (p.Trp163=) c.1028G= (p.Trp343=) c.1525G= c.*413G= (n.*413G=) c.1088G= (p.Trp363=) c.1250G= (p.Trp417=) | |
| X | g.50086551G>T | CA413185489 | CLCN5 | c.1238G>T (p.Trp413Leu) c.488G>T (p.Trp163Leu) c.1028G>T (p.Trp343Leu) c.1525G>T c.*413G>T (n.*413G>T) c.1088G>T (p.Trp363Leu) c.1250G>T (p.Trp417Leu) | |
| X | g.50086552G>A | CA413185490 | CLCN5 | c.1239G>A (p.Trp413Ter) c.489G>A (p.Trp163Ter) c.1029G>A (p.Trp343Ter) c.1526G>A c.*414G>A (n.*414G>A) c.1089G>A (p.Trp363Ter) c.1251G>A (p.Trp417Ter) | |
| X | g.50086552G>C | CA413185491 | CLCN5 | c.1239G>C (p.Trp413Cys) c.489G>C (p.Trp163Cys) c.1029G>C (p.Trp343Cys) c.1526G>C c.*414G>C (n.*414G>C) c.1089G>C (p.Trp363Cys) c.1251G>C (p.Trp417Cys) | |
| X | g.50086552G>T | CA413185492 | CLCN5 | c.1239G>T (p.Trp413Cys) c.489G>T (p.Trp163Cys) c.1029G>T (p.Trp343Cys) c.1526G>T c.*414G>T (n.*414G>T) c.1089G>T (p.Trp363Cys) c.1251G>T (p.Trp417Cys) | |
| X | g.50086553T>A | CA413185493 | CLCN5 | c.1240T>A (p.Cys414Ser) c.490T>A (p.Cys164Ser) c.1030T>A (p.Cys344Ser) c.1527T>A c.*415T>A (n.*415T>A) c.1090T>A (p.Cys364Ser) c.1252T>A (p.Cys418Ser) | |
| X | g.50086553T>C | CA413185494 | CLCN5 | c.1240T>C (p.Cys414Arg) c.490T>C (p.Cys164Arg) c.1030T>C (p.Cys344Arg) c.1527T>C c.*415T>C (n.*415T>C) c.1090T>C (p.Cys364Arg) c.1252T>C (p.Cys418Arg) | |
| X | g.50086553T>G | CA413185495 | CLCN5 | c.1240T>G (p.Cys414Gly) c.490T>G (p.Cys164Gly) c.1030T>G (p.Cys344Gly) c.1527T>G c.*415T>G (n.*415T>G) c.1090T>G (p.Cys364Gly) c.1252T>G (p.Cys418Gly) | |
| X | g.50086554G>A | CA413185496 | CLCN5 | c.1241G>A (p.Cys414Tyr) c.491G>A (p.Cys164Tyr) c.1031G>A (p.Cys344Tyr) c.1528G>A c.*416G>A (n.*416G>A) c.1091G>A (p.Cys364Tyr) c.1253G>A (p.Cys418Tyr) | |
| X | g.50086554G>C | CA413185497 | CLCN5 | c.1241G>C (p.Cys414Ser) c.491G>C (p.Cys164Ser) c.1031G>C (p.Cys344Ser) c.1528G>C c.*416G>C (n.*416G>C) c.1091G>C (p.Cys364Ser) c.1253G>C (p.Cys418Ser) | |
| X | g.50086554G>T | CA413185498 | CLCN5 | c.1241G>T (p.Cys414Phe) c.491G>T (p.Cys164Phe) c.1031G>T (p.Cys344Phe) c.1528G>T c.*416G>T (n.*416G>T) c.1091G>T (p.Cys364Phe) c.1253G>T (p.Cys418Phe) | |
| X | g.50086555T>A | CA413185500 | CLCN5 | c.1242T>A (p.Cys414Ter) c.492T>A (p.Cys164Ter) c.1032T>A (p.Cys344Ter) c.1529T>A c.*417T>A (n.*417T>A) c.1092T>A (p.Cys364Ter) c.1254T>A (p.Cys418Ter) | |
| X | g.50086555T>C | CA516678503 | CLCN5 | c.1242T>C (p.Cys414=) c.492T>C (p.Cys164=) c.1032T>C (p.Cys344=) c.1529T>C c.*417T>C (n.*417T>C) c.1092T>C (p.Cys364=) c.1254T>C (p.Cys418=) | dbSNP |
| X | g.50086555T>G | CA413185499 | CLCN5 | c.1242T>G (p.Cys414Trp) c.492T>G (p.Cys164Trp) c.1032T>G (p.Cys344Trp) c.1529T>G c.*417T>G (n.*417T>G) c.1092T>G (p.Cys364Trp) c.1254T>G (p.Cys418Trp) | |
| X | g.50086555T= | CA2428768902 | CLCN5 | c.1242T= (p.Cys414=) c.492T= (p.Cys164=) c.1032T= (p.Cys344=) c.1529T= c.*417T= (n.*417T=) c.1092T= (p.Cys364=) c.1254T= (p.Cys418=) | |
| X | g.50086556C>A | CA516678505 | CLCN5 | c.1243C>A (p.Arg415=) c.493C>A (p.Arg165=) c.1033C>A (p.Arg345=) c.1530C>A c.*418C>A (n.*418C>A) c.1093C>A (p.Arg365=) c.1255C>A (p.Arg419=) | |
| X | g.50086556C= | CA2428768903 | CLCN5 | c.1243C= (p.Arg415=) c.493C= (p.Arg165=) c.1033C= (p.Arg345=) c.1530C= c.*418C= (n.*418C=) c.1093C= (p.Arg365=) c.1255C= (p.Arg419=) | |
| X | g.50086556C>G | CA413185501 | CLCN5 | c.1243C>G (p.Arg415Gly) c.493C>G (p.Arg165Gly) c.1033C>G (p.Arg345Gly) c.1530C>G c.*418C>G (n.*418C>G) c.1093C>G (p.Arg365Gly) c.1255C>G (p.Arg419Gly) | |
| X | g.50086556C>T | CA10413851 | CLCN5 | c.1243C>T (p.Arg415Trp) c.493C>T (p.Arg165Trp) c.1033C>T (p.Arg345Trp) c.1530C>T c.*418C>T (n.*418C>T) c.1093C>T (p.Arg365Trp) c.1255C>T (p.Arg419Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>A | CA10413852 | CLCN5 | c.1244G>A (p.Arg415Gln) c.494G>A (p.Arg165Gln) c.1034G>A (p.Arg345Gln) c.1531G>A c.*419G>A (n.*419G>A) c.1094G>A (p.Arg365Gln) c.1256G>A (p.Arg419Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086557G>C | CA413185502 | CLCN5 | c.1244G>C (p.Arg415Pro) c.494G>C (p.Arg165Pro) c.1034G>C (p.Arg345Pro) c.1531G>C c.*419G>C (n.*419G>C) c.1094G>C (p.Arg365Pro) c.1256G>C (p.Arg419Pro) | |
| X | g.50086557G= | CA2428768904 | CLCN5 | c.1244G= (p.Arg415=) c.494G= (p.Arg165=) c.1034G= (p.Arg345=) c.1531G= c.*419G= (n.*419G=) c.1094G= (p.Arg365=) c.1256G= (p.Arg419=) | |
| X | g.50086557G>T | CA10413853 | CLCN5 | c.1244G>T (p.Arg415Leu) c.494G>T (p.Arg165Leu) c.1034G>T (p.Arg345Leu) c.1531G>T c.*419G>T (n.*419G>T) c.1094G>T (p.Arg365Leu) c.1256G>T (p.Arg419Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086558G>A | CA516678510 | CLCN5 | c.1245G>A (p.Arg415=) c.495G>A (p.Arg165=) c.1035G>A (p.Arg345=) c.1532G>A c.*420G>A (n.*420G>A) c.1095G>A (p.Arg365=) c.1257G>A (p.Arg419=) | |
| X | g.50086558G>C | CA516678512 | CLCN5 | c.1245G>C (p.Arg415=) c.495G>C (p.Arg165=) c.1035G>C (p.Arg345=) c.1532G>C c.*420G>C (n.*420G>C) c.1095G>C (p.Arg365=) c.1257G>C (p.Arg419=) | |
| X | g.50086558G>T | CA516678511 | CLCN5 | c.1245G>T (p.Arg415=) c.495G>T (p.Arg165=) c.1035G>T (p.Arg345=) c.1532G>T c.*420G>T (n.*420G>T) c.1095G>T (p.Arg365=) c.1257G>T (p.Arg419=) | gnomAD v4 |
| X | g.50086559A>C | CA413185503 | CLCN5 | c.1246A>C (p.Lys416Gln) c.496A>C (p.Lys166Gln) c.1036A>C (p.Lys346Gln) c.1533A>C c.*421A>C (n.*421A>C) c.1096A>C (p.Lys366Gln) c.1258A>C (p.Lys420Gln) | |
| X | g.50086559A>G | CA413185504 | CLCN5 | c.1246A>G (p.Lys416Glu) c.496A>G (p.Lys166Glu) c.1036A>G (p.Lys346Glu) c.1533A>G c.*421A>G (n.*421A>G) c.1096A>G (p.Lys366Glu) c.1258A>G (p.Lys420Glu) | |
| X | g.50086559A>T | CA413185505 | CLCN5 | c.1246A>T (p.Lys416Ter) c.496A>T (p.Lys166Ter) c.1036A>T (p.Lys346Ter) c.1533A>T c.*421A>T (n.*421A>T) c.1096A>T (p.Lys366Ter) c.1258A>T (p.Lys420Ter) | |
| X | g.50086560A>C | CA413185506 | CLCN5 | c.1247A>C (p.Lys416Thr) c.497A>C (p.Lys166Thr) c.1037A>C (p.Lys346Thr) c.1534A>C c.*422A>C (n.*422A>C) c.1097A>C (p.Lys366Thr) c.1259A>C (p.Lys420Thr) | |
| X | g.50086560A>G | CA413185508 | CLCN5 | c.1247A>G (p.Lys416Arg) c.497A>G (p.Lys166Arg) c.1037A>G (p.Lys346Arg) c.1534A>G c.*422A>G (n.*422A>G) c.1097A>G (p.Lys366Arg) c.1259A>G (p.Lys420Arg) | |
| X | g.50086560A>T | CA413185507 | CLCN5 | c.1247A>T (p.Lys416Met) c.497A>T (p.Lys166Met) c.1037A>T (p.Lys346Met) c.1534A>T c.*422A>T (n.*422A>T) c.1097A>T (p.Lys366Met) c.1259A>T (p.Lys420Met) | |
| X | g.50086561G>A | CA516678517 | CLCN5 | c.1248G>A (p.Lys416=) c.498G>A (p.Lys166=) c.1038G>A (p.Lys346=) c.1535G>A c.*423G>A (n.*423G>A) c.1098G>A (p.Lys366=) c.1260G>A (p.Lys420=) | |
| X | g.50086561G>C | CA413185509 | CLCN5 | c.1248G>C (p.Lys416Asn) c.498G>C (p.Lys166Asn) c.1038G>C (p.Lys346Asn) c.1535G>C c.*423G>C (n.*423G>C) c.1098G>C (p.Lys366Asn) c.1260G>C (p.Lys420Asn) | |
| X | g.50086561G>T | CA413185510 | CLCN5 | c.1248G>T (p.Lys416Asn) c.498G>T (p.Lys166Asn) c.1038G>T (p.Lys346Asn) c.1535G>T c.*423G>T (n.*423G>T) c.1098G>T (p.Lys366Asn) c.1260G>T (p.Lys420Asn) | |
| X | g.50086562C>A | CA516678521 | CLCN5 | c.1249C>A (p.Arg417=) c.499C>A (p.Arg167=) c.1039C>A (p.Arg347=) c.1536C>A c.*424C>A (n.*424C>A) c.1099C>A (p.Arg367=) c.1261C>A (p.Arg421=) | |
| X | g.50086562C= | CA2428768905 | CLCN5 | c.1249C= (p.Arg417=) c.499C= (p.Arg167=) c.1039C= (p.Arg347=) c.1536C= c.*424C= (n.*424C=) c.1099C= (p.Arg367=) c.1261C= (p.Arg421=) | |
| X | g.50086562C>G | CA413185511 | CLCN5 | c.1249C>G (p.Arg417Gly) c.499C>G (p.Arg167Gly) c.1039C>G (p.Arg347Gly) c.1536C>G c.*424C>G (n.*424C>G) c.1099C>G (p.Arg367Gly) c.1261C>G (p.Arg421Gly) | |
| X | g.50086562C>T | CA347316 | CLCN5 | c.1249C>T (p.Arg417Ter) c.499C>T (p.Arg167Ter) c.1039C>T (p.Arg347Ter) c.1536C>T c.*424C>T (n.*424C>T) c.1099C>T (p.Arg367Ter) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.50086563G>A | CA413185512 | CLCN5 | c.1250G>A (p.Arg417Gln) c.500G>A (p.Arg167Gln) c.1040G>A (p.Arg347Gln) c.1537G>A c.*425G>A (n.*425G>A) c.1100G>A (p.Arg367Gln) c.1262G>A (p.Arg421Gln) | gnomAD v4 |
| X | g.50086563G>C | CA413185514 | CLCN5 | c.1250G>C (p.Arg417Pro) c.500G>C (p.Arg167Pro) c.1040G>C (p.Arg347Pro) c.1537G>C c.*425G>C (n.*425G>C) c.1100G>C (p.Arg367Pro) c.1262G>C (p.Arg421Pro) | |
| X | g.50086563G>T | CA413185513 | CLCN5 | c.1250G>T (p.Arg417Leu) c.500G>T (p.Arg167Leu) c.1040G>T (p.Arg347Leu) c.1537G>T c.*425G>T (n.*425G>T) c.1100G>T (p.Arg367Leu) c.1262G>T (p.Arg421Leu) | |
| X | g.50086564A= | CA2428768906 | CLCN5 | c.1251A= (p.Arg417=) c.501A= (p.Arg167=) c.1041A= (p.Arg347=) c.1538A= c.*426A= (n.*426A=) c.1101A= (p.Arg367=) c.1263A= (p.Arg421=) | |
| X | g.50086564A>C | CA516678525 | CLCN5 | c.1251A>C (p.Arg417=) c.501A>C (p.Arg167=) c.1041A>C (p.Arg347=) c.1538A>C c.*426A>C (n.*426A>C) c.1101A>C (p.Arg367=) c.1263A>C (p.Arg421=) | |
| X | g.50086564A>G | CA10413854 | CLCN5 | c.1251A>G (p.Arg417=) c.501A>G (p.Arg167=) c.1041A>G (p.Arg347=) c.1538A>G c.*426A>G (n.*426A>G) c.1101A>G (p.Arg367=) c.1263A>G (p.Arg421=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086564A>T | CA516678527 | CLCN5 | c.1251A>T (p.Arg417=) c.501A>T (p.Arg167=) c.1041A>T (p.Arg347=) c.1538A>T c.*426A>T (n.*426A>T) c.1101A>T (p.Arg367=) c.1263A>T (p.Arg421=) | |
| X | g.50086565A>C | CA413185515 | CLCN5 | c.1252A>C (p.Lys418Gln) c.502A>C (p.Lys168Gln) c.1042A>C (p.Lys348Gln) c.1539A>C c.*427A>C (n.*427A>C) c.1102A>C (p.Lys368Gln) c.1264A>C (p.Lys422Gln) | |
| X | g.50086565A>G | CA413185516 | CLCN5 | c.1252A>G (p.Lys418Glu) c.502A>G (p.Lys168Glu) c.1042A>G (p.Lys348Glu) c.1539A>G c.*427A>G (n.*427A>G) c.1102A>G (p.Lys368Glu) c.1264A>G (p.Lys422Glu) |