| 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.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=) | |
| X | g.67711472C>T | CA517048195 | AR | c.*304C>T (n.*304C>T) c.1956C>T (p.Pro652=) c.583C>T (n.583C>T) c.360C>T (p.Pro120=) c.1386C>T (p.Pro462=) | |
| X | g.67711473del | CA2695234356 | AR | c.*305del (n.*305del) c.1957del (p.Thr653LeufsTer8) c.584del (n.584del) c.361del (p.Thr121LeufsTer8) c.1387del (p.Thr463LeufsTer8) | |
| X | g.67711473A>C | CA413423100 | AR | c.*305A>C (n.*305A>C) c.1957A>C (p.Thr653Pro) c.584A>C (n.584A>C) c.361A>C (p.Thr121Pro) c.1387A>C (p.Thr463Pro) | |
| X | g.67711473A>G | CA413423101 | AR | c.*305A>G (n.*305A>G) c.1957A>G (p.Thr653Ala) c.584A>G (n.584A>G) c.361A>G (p.Thr121Ala) c.1387A>G (p.Thr463Ala) | |
| X | g.67711473A>T | CA413423102 | AR | c.*305A>T (n.*305A>T) c.1957A>T (p.Thr653Ser) c.584A>T (n.584A>T) c.361A>T (p.Thr121Ser) c.1387A>T (p.Thr463Ser) | gnomAD v4 |
| X | g.67711473dup | CA645603433 | AR | c.*305dup (n.*305dup) c.1957dup (p.Thr653AsnfsTer2) c.584dup (n.584dup) c.361dup (p.Thr121AsnfsTer2) c.1387dup (p.Thr463AsnfsTer2) | COSMIC COSMIC |
| X | g.67711474del | CA2695234357 | AR | c.*306del (n.*306del) c.1958del (p.Thr653MetfsTer8) c.585del (n.585del) c.362del (p.Thr121MetfsTer8) c.1388del (p.Thr463MetfsTer8) | |
| X | g.67711474C>A | CA413423103 | AR | c.*306C>A (n.*306C>A) c.1958C>A (p.Thr653Asn) c.585C>A (n.585C>A) c.362C>A (p.Thr121Asn) c.1388C>A (p.Thr463Asn) | dbSNP |
| X | g.67711474C>G | CA413423104 | AR | c.*306C>G (n.*306C>G) c.1958C>G (p.Thr653Ser) c.585C>G (n.585C>G) c.362C>G (p.Thr121Ser) c.1388C>G (p.Thr463Ser) | dbSNP |
| X | g.67711474C>T | CA413423105 | AR | c.*306C>T (n.*306C>T) c.1958C>T (p.Thr653Ile) c.585C>T (n.585C>T) c.362C>T (p.Thr121Ile) c.1388C>T (p.Thr463Ile) | dbSNP |
| X | g.67711475T>A | CA517048201 | AR | c.*307T>A (n.*307T>A) c.1959T>A (p.Thr653=) c.586T>A (n.586T>A) c.363T>A (p.Thr121=) c.1389T>A (p.Thr463=) | dbSNP |
| X | g.67711475T>C | CA517048202 | AR | c.*307T>C (n.*307T>C) c.1959T>C (p.Thr653=) c.586T>C (n.586T>C) c.363T>C (p.Thr121=) c.1389T>C (p.Thr463=) | dbSNP |
| X | g.67711475T>G | CA517048203 | AR | c.*307T>G (n.*307T>G) c.1959T>G (p.Thr653=) c.586T>G (n.586T>G) c.363T>G (p.Thr121=) c.1389T>G (p.Thr463=) | ClinVar dbSNP |
| X | g.67711475T= | CA2435130453 | AR | c.*307T= (n.*307T=) c.1959T= (p.Thr653=) c.586T= (n.586T=) c.363T= (p.Thr121=) c.1389T= (p.Thr463=) | |
| X | g.67711476G>A | CA10436556 | AR | c.*308G>A (n.*308G>A) c.1960G>A (p.Glu654Lys) c.587G>A (n.587G>A) c.364G>A (p.Glu122Lys) c.1390G>A (p.Glu464Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711476G>C | CA413423106 | AR | c.*308G>C (n.*308G>C) c.1960G>C (p.Glu654Gln) c.587G>C (n.587G>C) c.364G>C (p.Glu122Gln) c.1390G>C (p.Glu464Gln) | dbSNP |
| X | g.67711476G= | CA2435130454 | AR | c.*308G= (n.*308G=) c.1960G= (p.Glu654=) c.587G= (n.587G=) c.364G= (p.Glu122=) c.1390G= (p.Glu464=) | |
| X | g.67711476G>T | CA413423107 | AR | c.*308G>T (n.*308G>T) c.1960G>T (p.Glu654Ter) c.587G>T (n.587G>T) c.364G>T (p.Glu122Ter) c.1390G>T (p.Glu464Ter) | |
| X | g.67711477A= | CA2435130455 | AR | c.*309A= (n.*309A=) c.1961A= (p.Glu654=) c.588A= (n.588A=) c.365A= (p.Glu122=) c.1391A= (p.Glu464=) | |
| X | g.67711477A>C | CA413423109 | AR | c.*309A>C (n.*309A>C) c.1961A>C (p.Glu654Ala) c.588A>C (n.588A>C) c.365A>C (p.Glu122Ala) c.1391A>C (p.Glu464Ala) | |
| X | g.67711477A>G | CA413423110 | AR | c.*309A>G (n.*309A>G) c.1961A>G (p.Glu654Gly) c.588A>G (n.588A>G) c.365A>G (p.Glu122Gly) c.1391A>G (p.Glu464Gly) | dbSNP |
| X | g.67711477A>T | CA413423108 | AR | c.*309A>T (n.*309A>T) c.1961A>T (p.Glu654Val) c.588A>T (n.588A>T) c.365A>T (p.Glu122Val) c.1391A>T (p.Glu464Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711478G>A | CA517048208 | AR | c.*310G>A (n.*310G>A) c.1962G>A (p.Glu654=) c.589G>A (n.589G>A) c.366G>A (p.Glu122=) c.1392G>A (p.Glu464=) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711478G>C | CA413423111 | AR | c.*310G>C (n.*310G>C) c.1962G>C (p.Glu654Asp) c.589G>C (n.589G>C) c.366G>C (p.Glu122Asp) c.1392G>C (p.Glu464Asp) | dbSNP |
| X | g.67711478G>T | CA413423112 | AR | c.*310G>T (n.*310G>T) c.1962G>T (p.Glu654Asp) c.589G>T (n.589G>T) c.366G>T (p.Glu122Asp) c.1392G>T (p.Glu464Asp) | dbSNP |
| X | g.67711479G>A | CA413423113 | AR | c.*311G>A (n.*311G>A) c.1963G>A (p.Glu655Lys) c.590G>A (n.590G>A) c.367G>A (p.Glu123Lys) c.1393G>A (p.Glu465Lys) | dbSNP |
| X | g.67711479G>C | CA413423114 | AR | c.*311G>C (n.*311G>C) c.1963G>C (p.Glu655Gln) c.590G>C (n.590G>C) c.367G>C (p.Glu123Gln) c.1393G>C (p.Glu465Gln) | dbSNP |
| X | g.67711479G>T | CA413423115 | AR | c.*311G>T (n.*311G>T) c.1963G>T (p.Glu655Ter) c.590G>T (n.590G>T) c.367G>T (p.Glu123Ter) c.1393G>T (p.Glu465Ter) | |
| X | g.67711480A>C | CA413423116 | AR | c.*312A>C (n.*312A>C) c.1964A>C (p.Glu655Ala) c.591A>C (n.591A>C) c.368A>C (p.Glu123Ala) c.1394A>C (p.Glu465Ala) | |
| X | g.67711480A>G | CA413423117 | AR | c.*312A>G (n.*312A>G) c.1964A>G (p.Glu655Gly) c.591A>G (n.591A>G) c.368A>G (p.Glu123Gly) c.1394A>G (p.Glu465Gly) | dbSNP |
| X | g.67711480A>T | CA413423118 | AR | c.*312A>T (n.*312A>T) c.1964A>T (p.Glu655Val) c.591A>T (n.591A>T) c.368A>T (p.Glu123Val) c.1394A>T (p.Glu465Val) | dbSNP |
| X | g.67711481G>A | CA10436557 | AR | c.*313G>A (n.*313G>A) c.1965G>A (p.Glu655=) c.592G>A (n.592G>A) c.369G>A (p.Glu123=) c.1395G>A (p.Glu465=) | dbSNP ExAC gnomAD v2 gnomAD v4 |