| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.67711384_67711484del | CA2693950049 | AR | c.*234-18_*316del c.1886-18_1968del c.513-18_595del c.290-18_372del c.1316-18_1398del | gnomAD v4 |
| X | g.67711459G>A | CA120692 | AR | c.*291G>A (n.*291G>A) c.1943G>A (p.Ser648Asn) c.570G>A (n.570G>A) c.347G>A (p.Ser116Asn) c.1373G>A (p.Ser458Asn) | ClinVar dbSNP COSMIC |
| X | g.67711459G>C | CA413423071 | AR | c.*291G>C (n.*291G>C) c.1943G>C (p.Ser648Thr) c.570G>C (n.570G>C) c.347G>C (p.Ser116Thr) c.1373G>C (p.Ser458Thr) | |
| X | g.67711459G= | CA2435130447 | AR | c.*291G= (n.*291G=) c.1943G= (p.Ser648=) c.570G= (n.570G=) c.347G= (p.Ser116=) c.1373G= (p.Ser458=) | |
| X | g.67711459G>T | CA413423072 | AR | c.*291G>T (n.*291G>T) c.1943G>T (p.Ser648Ile) c.570G>T (n.570G>T) c.347G>T (p.Ser116Ile) c.1373G>T (p.Ser458Ile) | |
| X | g.67711460C>A | CA413423073 | AR | c.*292C>A (n.*292C>A) c.1944C>A (p.Ser648Arg) c.571C>A (n.571C>A) c.348C>A (p.Ser116Arg) c.1374C>A (p.Ser458Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.67711460C= | CA2435130448 | AR | c.*292C= (n.*292C=) c.1944C= (p.Ser648=) c.571C= (n.571C=) c.348C= (p.Ser116=) c.1374C= (p.Ser458=) | |
| X | g.67711460C>G | CA413423074 | AR | c.*292C>G (n.*292C>G) c.1944C>G (p.Ser648Arg) c.571C>G (n.571C>G) c.348C>G (p.Ser116Arg) c.1374C>G (p.Ser458Arg) | dbSNP |
| X | g.67711460C>T | CA517048169 | AR | c.*292C>T (n.*292C>T) c.1944C>T (p.Ser648=) c.571C>T (n.571C>T) c.348C>T (p.Ser116=) c.1374C>T (p.Ser458=) | ClinVar dbSNP |
| X | g.67711461A= | CA2435130449 | AR | c.*293A= (n.*293A=) c.1945A= (p.Thr649=) c.572A= (n.572A=) c.349A= (p.Thr117=) c.1375A= (p.Thr459=) | |
| X | g.67711461A>C | CA330771339 | AR | c.*293A>C (n.*293A>C) c.1945A>C (p.Thr649Pro) c.572A>C (n.572A>C) c.349A>C (p.Thr117Pro) c.1375A>C (p.Thr459Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711461A>G | CA413423075 | AR | c.*293A>G (n.*293A>G) c.1945A>G (p.Thr649Ala) c.572A>G (n.572A>G) c.349A>G (p.Thr117Ala) c.1375A>G (p.Thr459Ala) | |
| X | g.67711461A>T | CA413423076 | AR | c.*293A>T (n.*293A>T) c.1945A>T (p.Thr649Ser) c.572A>T (n.572A>T) c.349A>T (p.Thr117Ser) c.1375A>T (p.Thr459Ser) | |
| X | g.67711462C>A | CA413423078 | AR | c.*294C>A (n.*294C>A) c.1946C>A (p.Thr649Asn) c.573C>A (n.573C>A) c.350C>A (p.Thr117Asn) c.1376C>A (p.Thr459Asn) | dbSNP |
| X | g.67711462C>G | CA413423079 | AR | c.*294C>G (n.*294C>G) c.1946C>G (p.Thr649Ser) c.573C>G (n.573C>G) c.350C>G (p.Thr117Ser) c.1376C>G (p.Thr459Ser) | dbSNP |
| X | g.67711462C>T | CA413423077 | AR | c.*294C>T (n.*294C>T) c.1946C>T (p.Thr649Ile) c.573C>T (n.573C>T) c.350C>T (p.Thr117Ile) c.1376C>T (p.Thr459Ile) | |
| X | g.67711463C>A | CA517048173 | AR | c.*295C>A (n.*295C>A) c.1947C>A (p.Thr649=) c.574C>A (n.574C>A) c.351C>A (p.Thr117=) c.1377C>A (p.Thr459=) | dbSNP |
| X | g.67711463C>G | CA517048174 | AR | c.*295C>G (n.*295C>G) c.1947C>G (p.Thr649=) c.574C>G (n.574C>G) c.351C>G (p.Thr117=) c.1377C>G (p.Thr459=) | gnomAD v4 |
| X | g.67711463C>T | CA517048175 | AR | c.*295C>T (n.*295C>T) c.1947C>T (p.Thr649=) c.574C>T (n.574C>T) c.351C>T (p.Thr117=) c.1377C>T (p.Thr459=) | ClinVar dbSNP |
| X | g.67711464A= | CA2435130450 | AR | c.*296A= (n.*296A=) c.1948A= (p.Thr650=) c.575A= (n.575A=) c.352A= (p.Thr118=) c.1378A= (p.Thr460=) | |
| X | g.67711464A>C | CA413423080 | AR | c.*296A>C (n.*296A>C) c.1948A>C (p.Thr650Pro) c.575A>C (n.575A>C) c.352A>C (p.Thr118Pro) c.1378A>C (p.Thr460Pro) | dbSNP gnomAD v4 |
| X | g.67711464A>G | CA413423081 | AR | c.*296A>G (n.*296A>G) c.1948A>G (p.Thr650Ala) c.575A>G (n.575A>G) c.352A>G (p.Thr118Ala) c.1378A>G (p.Thr460Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711464A>T | CA413423082 | AR | c.*296A>T (n.*296A>T) c.1948A>T (p.Thr650Ser) c.575A>T (n.575A>T) c.352A>T (p.Thr118Ser) c.1378A>T (p.Thr460Ser) | dbSNP |
| X | g.67711465C>A | CA413423083 | AR | c.*297C>A (n.*297C>A) c.1949C>A (p.Thr650Asn) c.576C>A (n.576C>A) c.353C>A (p.Thr118Asn) c.1379C>A (p.Thr460Asn) | dbSNP |
| X | g.67711465C= | CA2435130451 | AR | c.*297C= (n.*297C=) c.1949C= (p.Thr650=) c.576C= (n.576C=) c.353C= (p.Thr118=) c.1379C= (p.Thr460=) | |
| X | g.67711465C>G | CA413423084 | AR | c.*297C>G (n.*297C>G) c.1949C>G (p.Thr650Ser) c.576C>G (n.576C>G) c.353C>G (p.Thr118Ser) c.1379C>G (p.Thr460Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711465C>T | CA413423085 | AR | c.*297C>T (n.*297C>T) c.1949C>T (p.Thr650Ile) c.576C>T (n.576C>T) c.353C>T (p.Thr118Ile) c.1379C>T (p.Thr460Ile) | |
| X | g.67711466C>A | CA517048177 | AR | c.*298C>A (n.*298C>A) c.1950C>A (p.Thr650=) c.577C>A (n.577C>A) c.354C>A (p.Thr118=) c.1380C>A (p.Thr460=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711466C>G | CA517048179 | AR | c.*298C>G (n.*298C>G) c.1950C>G (p.Thr650=) c.577C>G (n.577C>G) c.354C>G (p.Thr118=) c.1380C>G (p.Thr460=) | |
| X | g.67711466C>T | CA517048183 | AR | c.*298C>T (n.*298C>T) c.1950C>T (p.Thr650=) c.577C>T (n.577C>T) c.354C>T (p.Thr118=) c.1380C>T (p.Thr460=) | dbSNP gnomAD v4 COSMIC |
| X | g.67711467A>C | CA413423088 | AR | c.*299A>C (n.*299A>C) c.1951A>C (p.Ser651Arg) c.578A>C (n.578A>C) c.355A>C (p.Ser119Arg) c.1381A>C (p.Ser461Arg) | |
| X | g.67711467A>G | CA413423086 | AR | c.*299A>G (n.*299A>G) c.1951A>G (p.Ser651Gly) c.578A>G (n.578A>G) c.355A>G (p.Ser119Gly) c.1381A>G (p.Ser461Gly) | |
| X | g.67711467A>T | CA413423087 | AR | c.*299A>T (n.*299A>T) c.1951A>T (p.Ser651Cys) c.578A>T (n.578A>T) c.355A>T (p.Ser119Cys) c.1381A>T (p.Ser461Cys) | dbSNP |
| X | g.67711467_67711468delinsAG | CA2435130452 | AR | c.*299_*300delinsAG (n.*299_*300delinsAG) c.1951_1952delinsAG (p.Ser651=) c.578_579delinsAG (n.578_579delinsAG) c.355_356delinsAG (p.Ser119=) c.1381_1382delinsAG (p.Ser461=) | |
| X | g.67711468del | CA16621464 | AR | c.*300del (n.*300del) c.1952del (p.Ser651ThrfsTer10) c.579del (n.579del) c.356del (p.Ser119ThrfsTer10) c.1382del (p.Ser461ThrfsTer10) | ClinVar dbSNP |
| X | g.67711468G>A | CA413423089 | AR | c.*300G>A (n.*300G>A) c.1952G>A (p.Ser651Asn) c.579G>A (n.579G>A) c.356G>A (p.Ser119Asn) c.1382G>A (p.Ser461Asn) | |
| X | g.67711468G>C | CA413423090 | AR | c.*300G>C (n.*300G>C) c.1952G>C (p.Ser651Thr) c.579G>C (n.579G>C) c.356G>C (p.Ser119Thr) c.1382G>C (p.Ser461Thr) | |
| X | g.67711468G>T | CA413423091 | AR | c.*300G>T (n.*300G>T) c.1952G>T (p.Ser651Ile) c.579G>T (n.579G>T) c.356G>T (p.Ser119Ile) c.1382G>T (p.Ser461Ile) | |
| X | g.67711469C>A | CA413423092 | AR | c.*301C>A (n.*301C>A) c.1953C>A (p.Ser651Arg) c.580C>A (n.580C>A) c.357C>A (p.Ser119Arg) c.1383C>A (p.Ser461Arg) | dbSNP gnomAD v4 |
| X | g.67711469C>G | CA413423093 | AR | c.*301C>G (n.*301C>G) c.1953C>G (p.Ser651Arg) c.580C>G (n.580C>G) c.357C>G (p.Ser119Arg) c.1383C>G (p.Ser461Arg) | dbSNP |
| X | g.67711469C>T | CA517048187 | AR | c.*301C>T (n.*301C>T) c.1953C>T (p.Ser651=) c.580C>T (n.580C>T) c.357C>T (p.Ser119=) c.1383C>T (p.Ser461=) | dbSNP gnomAD v4 |
| X | g.67711472del | CA2738705618 | AR | c.*304del (n.*304del) c.1956del (p.Thr653LeufsTer8) c.583del (n.583del) c.360del (p.Thr121LeufsTer8) c.1386del (p.Thr463LeufsTer8) | dbSNP |
| X | g.67711470C>A | CA413423094 | AR | c.*302C>A (n.*302C>A) c.1954C>A (p.Pro652Thr) c.581C>A (n.581C>A) c.358C>A (p.Pro120Thr) c.1384C>A (p.Pro462Thr) | dbSNP |
| X | g.67711470C>G | CA413423096 | AR | c.*302C>G (n.*302C>G) c.1954C>G (p.Pro652Ala) c.581C>G (n.581C>G) c.358C>G (p.Pro120Ala) c.1384C>G (p.Pro462Ala) | dbSNP gnomAD v4 |
| X | g.67711470C>T | CA413423095 | AR | c.*302C>T (n.*302C>T) c.1954C>T (p.Pro652Ser) c.581C>T (n.581C>T) c.358C>T (p.Pro120Ser) c.1384C>T (p.Pro462Ser) | dbSNP gnomAD v4 |
| X | g.67711471C>A | CA413423097 | AR | c.*303C>A (n.*303C>A) c.1955C>A (p.Pro652His) c.582C>A (n.582C>A) c.359C>A (p.Pro120His) c.1385C>A (p.Pro462His) | dbSNP |
| X | g.67711471C>G | CA413423098 | AR | c.*303C>G (n.*303C>G) c.1955C>G (p.Pro652Arg) c.582C>G (n.582C>G) c.359C>G (p.Pro120Arg) c.1385C>G (p.Pro462Arg) | dbSNP |
| X | g.67711471C>T | CA413423099 | AR | c.*303C>T (n.*303C>T) c.1955C>T (p.Pro652Leu) c.582C>T (n.582C>T) c.359C>T (p.Pro120Leu) c.1385C>T (p.Pro462Leu) | dbSNP gnomAD v4 |
| X | g.67711472C>A | CA517048191 | AR | c.*304C>A (n.*304C>A) c.1956C>A (p.Pro652=) c.583C>A (n.583C>A) c.360C>A (p.Pro120=) c.1386C>A (p.Pro462=) | |
| X | g.67711472C>G | CA517048193 | AR | c.*304C>G (n.*304C>G) c.1956C>G (p.Pro652=) c.583C>G (n.583C>G) c.360C>G (p.Pro120=) c.1386C>G (p.Pro462=) |