OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.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=) | |
| 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 |
| X | g.67711481G>C | CA413423120 | AR | c.*313G>C (n.*313G>C) c.1965G>C (p.Glu655Asp) c.592G>C (n.592G>C) c.369G>C (p.Glu123Asp) c.1395G>C (p.Glu465Asp) | dbSNP |
| X | g.67711481G= | CA2435130456 | AR | c.*313G= (n.*313G=) c.1965G= (p.Glu655=) c.592G= (n.592G=) c.369G= (p.Glu123=) c.1395G= (p.Glu465=) | |
| X | g.67711481G>T | CA413423119 | AR | c.*313G>T (n.*313G>T) c.1965G>T (p.Glu655Asp) c.592G>T (n.592G>T) c.369G>T (p.Glu123Asp) c.1395G>T (p.Glu465Asp) | |
| X | g.67711482A>C | CA413423121 | AR | c.*314A>C (n.*314A>C) c.1966A>C (p.Thr656Pro) c.593A>C (n.593A>C) c.370A>C (p.Thr124Pro) c.1396A>C (p.Thr466Pro) | dbSNP |
| X | g.67711482A>G | CA413423122 | AR | c.*314A>G (n.*314A>G) c.1966A>G (p.Thr656Ala) c.593A>G (n.593A>G) c.370A>G (p.Thr124Ala) c.1396A>G (p.Thr466Ala) | dbSNP gnomAD v4 |
| X | g.67711482A>T | CA413423123 | AR | c.*314A>T (n.*314A>T) c.1966A>T (p.Thr656Ser) c.593A>T (n.593A>T) c.370A>T (p.Thr124Ser) c.1396A>T (p.Thr466Ser) | dbSNP |
| X | g.67711483C>A | CA413423124 | AR | c.*315C>A (n.*315C>A) c.1967C>A (p.Thr656Lys) c.594C>A (n.594C>A) c.371C>A (p.Thr124Lys) c.1397C>A (p.Thr466Lys) | |
| X | g.67711483C= | CA2435130457 | AR | c.*315C= (n.*315C=) c.1967C= (p.Thr656=) c.594C= (n.594C=) c.371C= (p.Thr124=) c.1397C= (p.Thr466=) | |
| X | g.67711483C>G | CA10436558 | AR | c.*315C>G (n.*315C>G) c.1967C>G (p.Thr656Arg) c.594C>G (n.594C>G) c.371C>G (p.Thr124Arg) c.1397C>G (p.Thr466Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711483C>T | CA413423125 | AR | c.*315C>T (n.*315C>T) c.1967C>T (p.Thr656Ile) c.594C>T (n.594C>T) c.371C>T (p.Thr124Ile) c.1397C>T (p.Thr466Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711484A= | CA2435130458 | AR | c.*316A= (n.*316A=) c.1968A= (p.Thr656=) c.595A= (n.595A=) c.372A= (p.Thr124=) c.1398A= (p.Thr466=) | |
| X | g.67711484A>C | CA517048219 | AR | c.*316A>C (n.*316A>C) c.1968A>C (p.Thr656=) c.595A>C (n.595A>C) c.372A>C (p.Thr124=) c.1398A>C (p.Thr466=) | |
| X | g.67711484A>G | CA517048220 | AR | c.*316A>G (n.*316A>G) c.1968A>G (p.Thr656=) c.595A>G (n.595A>G) c.372A>G (p.Thr124=) c.1398A>G (p.Thr466=) | dbSNP |
| X | g.67711484A>T | CA517048221 | AR | c.*316A>T (n.*316A>T) c.1968A>T (p.Thr656=) c.595A>T (n.595A>T) c.372A>T (p.Thr124=) c.1398A>T (p.Thr466=) | dbSNP |
| X | g.67711485A= | CA2435130459 | AR | c.*317A= (n.*317A=) c.1969A= (p.Thr657=) c.596A= (n.596A=) c.373A= (p.Thr125=) c.1399A= (p.Thr467=) | |
| X | g.67711485A>C | CA413423126 | AR | c.*317A>C (n.*317A>C) c.1969A>C (p.Thr657Pro) c.596A>C (n.596A>C) c.373A>C (p.Thr125Pro) c.1399A>C (p.Thr467Pro) | |
| X | g.67711485A>G | CA330771340 | AR | c.*317A>G (n.*317A>G) c.1969A>G (p.Thr657Ala) c.596A>G (n.596A>G) c.373A>G (p.Thr125Ala) c.1399A>G (p.Thr467Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.67711485A>T | CA413423127 | AR | c.*317A>T (n.*317A>T) c.1969A>T (p.Thr657Ser) c.596A>T (n.596A>T) c.373A>T (p.Thr125Ser) c.1399A>T (p.Thr467Ser) | |
| X | g.67711486C>A | CA413423128 | AR | c.*318C>A (n.*318C>A) c.1970C>A (p.Thr657Asn) c.597C>A (n.597C>A) c.374C>A (p.Thr125Asn) c.1400C>A (p.Thr467Asn) | dbSNP |
| X | g.67711486C= | CA2435130460 | AR | c.*318C= (n.*318C=) c.1970C= (p.Thr657=) c.597C= (n.597C=) c.374C= (p.Thr125=) c.1400C= (p.Thr467=) | |
| X | g.67711486C>G | CA413423129 | AR | c.*318C>G (n.*318C>G) c.1970C>G (p.Thr657Ser) c.597C>G (n.597C>G) c.374C>G (p.Thr125Ser) c.1400C>G (p.Thr467Ser) | dbSNP gnomAD v4 |
| X | g.67711486C>T | CA413423130 | AR | c.*318C>T (n.*318C>T) c.1970C>T (p.Thr657Ile) c.597C>T (n.597C>T) c.374C>T (p.Thr125Ile) c.1400C>T (p.Thr467Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711487C>A | CA517048226 | AR | c.*319C>A (n.*319C>A) c.1971C>A (p.Thr657=) c.598C>A (n.598C>A) c.375C>A (p.Thr125=) c.1401C>A (p.Thr467=) | |
| X | g.67711487C= | CA2435130461 | AR | c.*319C= (n.*319C=) c.1971C= (p.Thr657=) c.598C= (n.598C=) c.375C= (p.Thr125=) c.1401C= (p.Thr467=) | |
| X | g.67711487C>G | CA517048227 | AR | c.*319C>G (n.*319C>G) c.1971C>G (p.Thr657=) c.598C>G (n.598C>G) c.375C>G (p.Thr125=) c.1401C>G (p.Thr467=) | gnomAD v4 |
| X | g.67711487C>T | CA10436559 | AR | c.*319C>T (n.*319C>T) c.1971C>T (p.Thr657=) c.598C>T (n.598C>T) c.375C>T (p.Thr125=) c.1401C>T (p.Thr467=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711488C>A | CA413423131 | AR | c.*320C>A (n.*320C>A) c.1972C>A (p.Gln658Lys) c.599C>A (n.599C>A) c.376C>A (p.Gln126Lys) c.1402C>A (p.Gln468Lys) | dbSNP |
| X | g.67711488C>G | CA413423133 | AR | c.*320C>G (n.*320C>G) c.1972C>G (p.Gln658Glu) c.599C>G (n.599C>G) c.376C>G (p.Gln126Glu) c.1402C>G (p.Gln468Glu) | dbSNP |
| X | g.67711488C>T | CA413423135 | AR | c.*320C>T (n.*320C>T) c.1972C>T (p.Gln658Ter) c.599C>T (n.599C>T) c.376C>T (p.Gln126Ter) c.1402C>T (p.Gln468Ter) | ClinVar dbSNP |
| X | g.67711489A>C | CA413423136 | AR | c.*321A>C (n.*321A>C) c.1973A>C (p.Gln658Pro) c.600A>C (n.600A>C) c.377A>C (p.Gln126Pro) c.1403A>C (p.Gln468Pro) | |
| X | g.67711489A>G | CA413423137 | AR | c.*321A>G (n.*321A>G) c.1973A>G (p.Gln658Arg) c.600A>G (n.600A>G) c.377A>G (p.Gln126Arg) c.1403A>G (p.Gln468Arg) | |
| X | g.67711489A>T | CA413423138 | AR | c.*321A>T (n.*321A>T) c.1973A>T (p.Gln658Leu) c.600A>T (n.600A>T) c.377A>T (p.Gln126Leu) c.1403A>T (p.Gln468Leu) | dbSNP |
| X | g.67711490G>A | CA517048231 | AR | c.*322G>A (n.*322G>A) c.1974G>A (p.Gln658=) c.601G>A (n.601G>A) c.378G>A (p.Gln126=) c.1404G>A (p.Gln468=) | dbSNP gnomAD v4 |
| X | g.67711490G>C | CA413423139 | AR | c.*322G>C (n.*322G>C) c.1974G>C (p.Gln658His) c.601G>C (n.601G>C) c.378G>C (p.Gln126His) c.1404G>C (p.Gln468His) | dbSNP |
| X | g.67711490G= | CA2435130462 | AR | c.*322G= (n.*322G=) c.1974G= (p.Gln658=) c.601G= (n.601G=) c.378G= (p.Gln126=) c.1404G= (p.Gln468=) | |
| X | g.67711490G>T | CA413423140 | AR | c.*322G>T (n.*322G>T) c.1974G>T (p.Gln658His) c.601G>T (n.601G>T) c.378G>T (p.Gln126His) c.1404G>T (p.Gln468His) | dbSNP |
| X | g.67711491A>C | CA413423143 | AR | c.*323A>C (n.*323A>C) c.1975A>C (p.Lys659Gln) c.602A>C (n.602A>C) c.379A>C (p.Lys127Gln) c.1405A>C (p.Lys469Gln) | |
| X | g.67711491A>G | CA413423141 | AR | c.*323A>G (n.*323A>G) c.1975A>G (p.Lys659Glu) c.602A>G (n.602A>G) c.379A>G (p.Lys127Glu) c.1405A>G (p.Lys469Glu) | |
| X | g.67711491A>T | CA413423142 | AR | c.*323A>T (n.*323A>T) c.1975A>T (p.Lys659Ter) c.602A>T (n.602A>T) c.379A>T (p.Lys127Ter) c.1405A>T (p.Lys469Ter) | dbSNP |
| X | g.67711491_67711492insTTTTTCAT | CA2525450713 | AR | c.*323_*324insTTTTTCAT (n.*323_*324insTTTTTCAT) c.1975_1976insTTTTTCAT (p.Lys659IlefsTer5) c.602_603insTTTTTCAT (n.602_603insTTTTTCAT) c.379_380insTTTTTCAT (p.Lys127IlefsTer5) c.1405_1406insTTTTTCAT (p.Lys469IlefsTer5) | |
| X | g.67711492A= | CA2435130463 | AR | c.*324A= (n.*324A=) c.1976A= (p.Lys659=) c.603A= (n.603A=) c.380A= (p.Lys127=) c.1406A= (p.Lys469=) | |
| X | g.67711492A>C | CA413423144 | AR | c.*324A>C (n.*324A>C) c.1976A>C (p.Lys659Thr) c.603A>C (n.603A>C) c.380A>C (p.Lys127Thr) c.1406A>C (p.Lys469Thr) | |
| X | g.67711492A>G | CA330771341 | AR | c.*324A>G (n.*324A>G) c.1976A>G (p.Lys659Arg) c.603A>G (n.603A>G) c.380A>G (p.Lys127Arg) c.1406A>G (p.Lys469Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711492A>T | CA413423145 | AR | c.*324A>T (n.*324A>T) c.1976A>T (p.Lys659Met) c.603A>T (n.603A>T) c.380A>T (p.Lys127Met) c.1406A>T (p.Lys469Met) | dbSNP |
| X | g.67711493G>A | CA517048239 | AR | c.*325G>A (n.*325G>A) c.1977G>A (p.Lys659=) c.604G>A (n.604G>A) c.381G>A (p.Lys127=) c.1407G>A (p.Lys469=) | ClinVar dbSNP |
| X | g.67711493G>C | CA413423146 | AR | c.*325G>C (n.*325G>C) c.1977G>C (p.Lys659Asn) c.604G>C (n.604G>C) c.381G>C (p.Lys127Asn) c.1407G>C (p.Lys469Asn) | dbSNP |
| X | g.67711493G>T | CA413423147 | AR | c.*325G>T (n.*325G>T) c.1977G>T (p.Lys659Asn) c.604G>T (n.604G>T) c.381G>T (p.Lys127Asn) c.1407G>T (p.Lys469Asn) | |
| X | g.67711494C>A | CA413423148 | AR | c.*326C>A (n.*326C>A) c.1978C>A (p.Leu660Met) c.605C>A (n.605C>A) c.382C>A (p.Leu128Met) c.1408C>A (p.Leu470Met) | dbSNP |
| X | g.67711494C>G | CA413423149 | AR | c.*326C>G (n.*326C>G) c.1978C>G (p.Leu660Val) c.605C>G (n.605C>G) c.382C>G (p.Leu128Val) c.1408C>G (p.Leu470Val) | dbSNP |
| X | g.67711494C>T | CA517048246 | AR | c.*326C>T (n.*326C>T) c.1978C>T (p.Leu660=) c.605C>T (n.605C>T) c.382C>T (p.Leu128=) c.1408C>T (p.Leu470=) | |
| X | g.67711495T>A | CA413423150 | AR | c.*327T>A (n.*327T>A) c.1979T>A (p.Leu660Gln) c.606T>A (n.606T>A) c.383T>A (p.Leu128Gln) c.1409T>A (p.Leu470Gln) | dbSNP |
| X | g.67711495T>C | CA10436560 | AR | c.*327T>C (n.*327T>C) c.1979T>C (p.Leu660Pro) c.606T>C (n.606T>C) c.383T>C (p.Leu128Pro) c.1409T>C (p.Leu470Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711495T>G | CA413423151 | AR | c.*327T>G (n.*327T>G) c.1979T>G (p.Leu660Arg) c.606T>G (n.606T>G) c.383T>G (p.Leu128Arg) c.1409T>G (p.Leu470Arg) | dbSNP |
| X | g.67711495T= | CA2435130464 | AR | c.*327T= (n.*327T=) c.1979T= (p.Leu660=) c.606T= (n.606T=) c.383T= (p.Leu128=) c.1409T= (p.Leu470=) | |
| X | g.67711496G>A | CA330771342 | AR | c.*328G>A (n.*328G>A) c.1980G>A (p.Leu660=) c.607G>A (n.607G>A) c.384G>A (p.Leu128=) c.1410G>A (p.Leu470=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711496G>C | CA517048249 | AR | c.*328G>C (n.*328G>C) c.1980G>C (p.Leu660=) c.607G>C (n.607G>C) c.384G>C (p.Leu128=) c.1410G>C (p.Leu470=) | dbSNP |
| X | g.67711496G= | CA2435130465 | AR | c.*328G= (n.*328G=) c.1980G= (p.Leu660=) c.607G= (n.607G=) c.384G= (p.Leu128=) c.1410G= (p.Leu470=) | |
| X | g.67711496G>T | CA517048247 | AR | c.*328G>T (n.*328G>T) c.1980G>T (p.Leu660=) c.607G>T (n.607G>T) c.384G>T (p.Leu128=) c.1410G>T (p.Leu470=) | dbSNP gnomAD v4 |
| X | g.67711497A>C | CA413423152 | AR | c.*329A>C (n.*329A>C) c.1981A>C (p.Thr661Pro) c.608A>C (n.608A>C) c.385A>C (p.Thr129Pro) c.1411A>C (p.Thr471Pro) | dbSNP |
| X | g.67711497A>G | CA413423153 | AR | c.*329A>G (n.*329A>G) c.1981A>G (p.Thr661Ala) c.608A>G (n.608A>G) c.385A>G (p.Thr129Ala) c.1411A>G (p.Thr471Ala) | dbSNP |
| X | g.67711497A>T | CA413423154 | AR | c.*329A>T (n.*329A>T) c.1981A>T (p.Thr661Ser) c.608A>T (n.608A>T) c.385A>T (p.Thr129Ser) c.1411A>T (p.Thr471Ser) | dbSNP |
| X | g.67711498C>A | CA413423157 | AR | c.*330C>A (n.*330C>A) c.1982C>A (p.Thr661Lys) c.609C>A (n.609C>A) c.386C>A (p.Thr129Lys) c.1412C>A (p.Thr471Lys) | dbSNP gnomAD v4 |
| X | g.67711498C= | CA2435130466 | AR | c.*330C= (n.*330C=) c.1982C= (p.Thr661=) c.609C= (n.609C=) c.386C= (p.Thr129=) c.1412C= (p.Thr471=) | |
| X | g.67711498C>G | CA413423156 | AR | c.*330C>G (n.*330C>G) c.1982C>G (p.Thr661Arg) c.609C>G (n.609C>G) c.386C>G (p.Thr129Arg) c.1412C>G (p.Thr471Arg) | dbSNP |
| X | g.67711498C>T | CA413423155 | AR | c.*330C>T (n.*330C>T) c.1982C>T (p.Thr661Ile) c.609C>T (n.609C>T) c.386C>T (p.Thr129Ile) c.1412C>T (p.Thr471Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711499A= | CA2435130467 | AR | c.*331A= (n.*331A=) c.1983A= (p.Thr661=) c.610A= (n.610A=) c.387A= (p.Thr129=) c.1413A= (p.Thr471=) | |
| X | g.67711499A>C | CA517048256 | AR | c.*331A>C (n.*331A>C) c.1983A>C (p.Thr661=) c.610A>C (n.610A>C) c.387A>C (p.Thr129=) c.1413A>C (p.Thr471=) | |
| X | g.67711499A>G | CA10436561 | AR | c.*331A>G (n.*331A>G) c.1983A>G (p.Thr661=) c.610A>G (n.610A>G) c.387A>G (p.Thr129=) c.1413A>G (p.Thr471=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711499A>T | CA517048257 | AR | c.*331A>T (n.*331A>T) c.1983A>T (p.Thr661=) c.610A>T (n.610A>T) c.387A>T (p.Thr129=) c.1413A>T (p.Thr471=) | dbSNP |
| X | g.67711500G>A | CA413423158 | AR | c.*332G>A (n.*332G>A) c.1984G>A (p.Val662Met) c.611G>A (n.611G>A) c.388G>A (p.Val130Met) c.1414G>A (p.Val472Met) | dbSNP |
| X | g.67711500G>C | CA413423159 | AR | c.*332G>C (n.*332G>C) c.1984G>C (p.Val662Leu) c.611G>C (n.611G>C) c.388G>C (p.Val130Leu) c.1414G>C (p.Val472Leu) | dbSNP |
| X | g.67711500G>T | CA413423160 | AR | c.*332G>T (n.*332G>T) c.1984G>T (p.Val662Leu) c.611G>T (n.611G>T) c.388G>T (p.Val130Leu) c.1414G>T (p.Val472Leu) | COSMIC COSMIC |
| X | g.67711501T>A | CA413423161 | AR | c.*333T>A (n.*333T>A) c.1985T>A (p.Val662Glu) c.612T>A (n.612T>A) c.389T>A (p.Val130Glu) c.1415T>A (p.Val472Glu) | dbSNP |
| X | g.67711501T>C | CA413423162 | AR | c.*333T>C (n.*333T>C) c.1985T>C (p.Val662Ala) c.612T>C (n.612T>C) c.389T>C (p.Val130Ala) c.1415T>C (p.Val472Ala) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711501T>G | CA413423163 | AR | c.*333T>G (n.*333T>G) c.1985T>G (p.Val662Gly) c.612T>G (n.612T>G) c.389T>G (p.Val130Gly) c.1415T>G (p.Val472Gly) | dbSNP |
| X | g.67711502G>A | CA517048262 | AR | c.*334G>A (n.*334G>A) c.1986G>A (p.Val662=) c.613G>A (n.613G>A) c.390G>A (p.Val130=) c.1416G>A (p.Val472=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711502G>C | CA517048263 | AR | c.*334G>C (n.*334G>C) c.1986G>C (p.Val662=) c.613G>C (n.613G>C) c.390G>C (p.Val130=) c.1416G>C (p.Val472=) | dbSNP |
| X | g.67711502G= | CA2435130468 | AR | c.*334G= (n.*334G=) c.1986G= (p.Val662=) c.613G= (n.613G=) c.390G= (p.Val130=) c.1416G= (p.Val472=) | |
| X | g.67711502G>T | CA517048264 | AR | c.*334G>T (n.*334G>T) c.1986G>T (p.Val662=) c.613G>T (n.613G>T) c.390G>T (p.Val130=) c.1416G>T (p.Val472=) | |
| X | g.67711503T>A | CA413423164 | AR | c.*335T>A (n.*335T>A) c.1987T>A (p.Ser663Thr) c.614T>A (n.614T>A) c.391T>A (p.Ser131Thr) c.1417T>A (p.Ser473Thr) | |
| X | g.67711503T>C | CA413423165 | AR | c.*335T>C (n.*335T>C) c.1987T>C (p.Ser663Pro) c.614T>C (n.614T>C) c.391T>C (p.Ser131Pro) c.1417T>C (p.Ser473Pro) | |
| X | g.67711503T>G | CA413423166 | AR | c.*335T>G (n.*335T>G) c.1987T>G (p.Ser663Ala) c.614T>G (n.614T>G) c.391T>G (p.Ser131Ala) c.1417T>G (p.Ser473Ala) | dbSNP |
| X | g.67711504C>A | CA413423167 | AR | c.*336C>A (n.*336C>A) c.1988C>A (p.Ser663Ter) c.615C>A (n.615C>A) c.392C>A (p.Ser131Ter) c.1418C>A (p.Ser473Ter) | dbSNP |
| X | g.67711504C>G | CA413423168 | AR | c.*336C>G (n.*336C>G) c.1988C>G (p.Ser663Ter) c.615C>G (n.615C>G) c.392C>G (p.Ser131Ter) c.1418C>G (p.Ser473Ter) | dbSNP COSMIC COSMIC COSMIC |
| X | g.67711504C>T | CA413423169 | AR | c.*336C>T (n.*336C>T) c.1988C>T (p.Ser663Leu) c.615C>T (n.615C>T) c.392C>T (p.Ser131Leu) c.1418C>T (p.Ser473Leu) | dbSNP |
| X | g.67711505A>C | CA517048266 | AR | c.*337A>C (n.*337A>C) c.1989A>C (p.Ser663=) c.616A>C (n.616A>C) c.393A>C (p.Ser131=) c.1419A>C (p.Ser473=) | dbSNP |
| X | g.67711505A>G | CA517048267 | AR | c.*337A>G (n.*337A>G) c.1989A>G (p.Ser663=) c.616A>G (n.616A>G) c.393A>G (p.Ser131=) c.1419A>G (p.Ser473=) | dbSNP |
| X | g.67711505A>T | CA517048268 | AR | c.*337A>T (n.*337A>T) c.1989A>T (p.Ser663=) c.616A>T (n.616A>T) c.393A>T (p.Ser131=) c.1419A>T (p.Ser473=) | dbSNP |
| X | g.67711506C>A | CA413423171 | AR | c.*338C>A (n.*338C>A) c.1990C>A (p.His664Asn) c.617C>A (n.617C>A) c.394C>A (p.His132Asn) c.1420C>A (p.His474Asn) | dbSNP |
| X | g.67711506C= | CA2435130469 | AR | c.*338C= (n.*338C=) c.1990C= (p.His664=) c.617C= (n.617C=) c.394C= (p.His132=) c.1420C= (p.His474=) | |
| X | g.67711506C>G | CA413423172 | AR | c.*338C>G (n.*338C>G) c.1990C>G (p.His664Asp) c.617C>G (n.617C>G) c.394C>G (p.His132Asp) c.1420C>G (p.His474Asp) | dbSNP |
| X | g.67711506C>T | CA413423170 | AR | c.*338C>T (n.*338C>T) c.1990C>T (p.His664Tyr) c.617C>T (n.617C>T) c.394C>T (p.His132Tyr) c.1420C>T (p.His474Tyr) | dbSNP |
| X | g.67711507A>C | CA413423173 | AR | c.*339A>C (n.*339A>C) c.1991A>C (p.His664Pro) c.618A>C (n.618A>C) c.395A>C (p.His132Pro) c.1421A>C (p.His474Pro) | |
| X | g.67711507A>G | CA413423174 | AR | c.*339A>G (n.*339A>G) c.1991A>G (p.His664Arg) c.618A>G (n.618A>G) c.395A>G (p.His132Arg) c.1421A>G (p.His474Arg) | dbSNP |
| X | g.67711507A>T | CA413423175 | AR | c.*339A>T (n.*339A>T) c.1991A>T (p.His664Leu) c.618A>T (n.618A>T) c.395A>T (p.His132Leu) c.1421A>T (p.His474Leu) | dbSNP |
| X | g.67711508C>A | CA413423176 | AR | c.*340C>A (n.*340C>A) c.1992C>A (p.His664Gln) c.619C>A (n.619C>A) c.396C>A (p.His132Gln) c.1422C>A (p.His474Gln) | |
| X | g.67711508C>G | CA413423177 | AR | c.*340C>G (n.*340C>G) c.1992C>G (p.His664Gln) c.619C>G (n.619C>G) c.396C>G (p.His132Gln) c.1422C>G (p.His474Gln) | dbSNP |
| X | g.67711508C>T | CA517048274 | AR | c.*340C>T (n.*340C>T) c.1992C>T (p.His664=) c.619C>T (n.619C>T) c.396C>T (p.His132=) c.1422C>T (p.His474=) | dbSNP |
| X | g.67711509A>C | CA413423178 | AR | c.*341A>C (n.*341A>C) c.1993A>C (p.Ile665Leu) c.620A>C (n.620A>C) c.397A>C (p.Ile133Leu) c.1423A>C (p.Ile475Leu) | gnomAD v4 |
| X | g.67711509A>G | CA413423179 | AR | c.*341A>G (n.*341A>G) c.1993A>G (p.Ile665Val) c.620A>G (n.620A>G) c.397A>G (p.Ile133Val) c.1423A>G (p.Ile475Val) | |
| X | g.67711509A>T | CA413423180 | AR | c.*341A>T (n.*341A>T) c.1993A>T (p.Ile665Phe) c.620A>T (n.620A>T) c.397A>T (p.Ile133Phe) c.1423A>T (p.Ile475Phe) | |
| X | g.67711510T>A | CA413423181 | AR | c.*342T>A (n.*342T>A) c.1994T>A (p.Ile665Asn) c.621T>A (n.621T>A) c.398T>A (p.Ile133Asn) c.1424T>A (p.Ile475Asn) | dbSNP |
| X | g.67711510T>C | CA330771343 | AR | c.*342T>C (n.*342T>C) c.1994T>C (p.Ile665Thr) c.621T>C (n.621T>C) c.398T>C (p.Ile133Thr) c.1424T>C (p.Ile475Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.67711510T>G | CA413423182 | AR | c.*342T>G (n.*342T>G) c.1994T>G (p.Ile665Ser) c.621T>G (n.621T>G) c.398T>G (p.Ile133Ser) c.1424T>G (p.Ile475Ser) | dbSNP |
| X | g.67711510T= | CA2435130470 | AR | c.*342T= (n.*342T=) c.1994T= (p.Ile665=) c.621T= (n.621T=) c.398T= (p.Ile133=) c.1424T= (p.Ile475=) | |
| X | g.67711511T>A | CA517048276 | AR | c.*343T>A (n.*343T>A) c.1995T>A (p.Ile665=) c.622T>A (n.622T>A) c.399T>A (p.Ile133=) c.1425T>A (p.Ile475=) | dbSNP |
| X | g.67711511T>C | CA517048277 | AR | c.*343T>C (n.*343T>C) c.1995T>C (p.Ile665=) c.622T>C (n.622T>C) c.399T>C (p.Ile133=) c.1425T>C (p.Ile475=) | |
| X | g.67711511T>G | CA413423183 | AR | c.*343T>G (n.*343T>G) c.1995T>G (p.Ile665Met) c.622T>G (n.622T>G) c.399T>G (p.Ile133Met) c.1425T>G (p.Ile475Met) | |
| X | g.67711511_67711527delinsCAGAA | CA2695234358 | AR | c.*343_*359delinsCAGAA (n.*343_*359delinsCAGAA) c.1995_2011delinsCAGAA (p.Glu666_Gln671delinsArgLys) c.622_638delinsCAGAA (n.622_638delinsCAGAA) c.399_415delinsCAGAA (p.Glu134_Gln139delinsArgLys) c.1425_1441delinsCAGAA (p.Glu476_Gln481delinsArgLys) | |
| X | g.67711512G>A | CA413423184 | AR | c.*344G>A (n.*344G>A) c.1996G>A (p.Glu666Lys) c.623G>A (n.623G>A) c.400G>A (p.Glu134Lys) c.1426G>A (p.Glu476Lys) | dbSNP |
| X | g.67711512G>C | CA413423185 | AR | c.*344G>C (n.*344G>C) c.1996G>C (p.Glu666Gln) c.623G>C (n.623G>C) c.400G>C (p.Glu134Gln) c.1426G>C (p.Glu476Gln) | |
| X | g.67711512G>T | CA413423186 | AR | c.*344G>T (n.*344G>T) c.1996G>T (p.Glu666Ter) c.623G>T (n.623G>T) c.400G>T (p.Glu134Ter) c.1426G>T (p.Glu476Ter) | |
| X | g.67711513A= | CA2435130471 | AR | c.*345A= (n.*345A=) c.1997A= (p.Glu666=) c.624A= (n.624A=) c.401A= (p.Glu134=) c.1427A= (p.Glu476=) | |
| X | g.67711513A>C | CA413423187 | AR | c.*345A>C (n.*345A>C) c.1997A>C (p.Glu666Ala) c.624A>C (n.624A>C) c.401A>C (p.Glu134Ala) c.1427A>C (p.Glu476Ala) | dbSNP |
| X | g.67711513A>G | CA413423189 | AR | c.*345A>G (n.*345A>G) c.1997A>G (p.Glu666Gly) c.624A>G (n.624A>G) c.401A>G (p.Glu134Gly) c.1427A>G (p.Glu476Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711513A>T | CA413423188 | AR | c.*345A>T (n.*345A>T) c.1997A>T (p.Glu666Val) c.624A>T (n.624A>T) c.401A>T (p.Glu134Val) c.1427A>T (p.Glu476Val) | dbSNP |
| X | g.67711514A>C | CA413423190 | AR | c.*346A>C (n.*346A>C) c.1998A>C (p.Glu666Asp) c.625A>C (n.625A>C) c.402A>C (p.Glu134Asp) c.1428A>C (p.Glu476Asp) | |
| X | g.67711514A>G | CA517048280 | AR | c.*346A>G (n.*346A>G) c.1998A>G (p.Glu666=) c.625A>G (n.625A>G) c.402A>G (p.Glu134=) c.1428A>G (p.Glu476=) | |
| X | g.67711514A>T | CA413423191 | AR | c.*346A>T (n.*346A>T) c.1998A>T (p.Glu666Asp) c.625A>T (n.625A>T) c.402A>T (p.Glu134Asp) c.1428A>T (p.Glu476Asp) | |
| X | g.67711515G>A | CA10436562 | AR | c.*347G>A (n.*347G>A) c.1999G>A (p.Gly667Ser) c.626G>A (n.626G>A) c.403G>A (p.Gly135Ser) c.1429G>A (p.Gly477Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711515G>C | CA413423192 | AR | c.*347G>C (n.*347G>C) c.1999G>C (p.Gly667Arg) c.626G>C (n.626G>C) c.403G>C (p.Gly135Arg) c.1429G>C (p.Gly477Arg) | dbSNP |
| X | g.67711515G= | CA2435130472 | AR | c.*347G= (n.*347G=) c.1999G= (p.Gly667=) c.626G= (n.626G=) c.403G= (p.Gly135=) c.1429G= (p.Gly477=) | |
| X | g.67711515G>T | CA413423193 | AR | c.*347G>T (n.*347G>T) c.1999G>T (p.Gly667Cys) c.626G>T (n.626G>T) c.403G>T (p.Gly135Cys) c.1429G>T (p.Gly477Cys) | dbSNP |
| X | g.67711516G>A | CA10436563 | AR | c.*348G>A (n.*348G>A) c.2000G>A (p.Gly667Asp) c.627G>A (n.627G>A) c.404G>A (p.Gly135Asp) c.1430G>A (p.Gly477Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711516G>C | CA413423194 | AR | c.*348G>C (n.*348G>C) c.2000G>C (p.Gly667Ala) c.627G>C (n.627G>C) c.404G>C (p.Gly135Ala) c.1430G>C (p.Gly477Ala) | |
| X | g.67711516G= | CA2435130473 | AR | c.*348G= (n.*348G=) c.2000G= (p.Gly667=) c.627G= (n.627G=) c.404G= (p.Gly135=) c.1430G= (p.Gly477=) | |
| X | g.67711516G>T | CA10436564 | AR | c.*348G>T (n.*348G>T) c.2000G>T (p.Gly667Val) c.627G>T (n.627G>T) c.404G>T (p.Gly135Val) c.1430G>T (p.Gly477Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711517C>A | CA517048286 | AR | c.*349C>A (n.*349C>A) c.2001C>A (p.Gly667=) c.628C>A (n.628C>A) c.405C>A (p.Gly135=) c.1431C>A (p.Gly477=) | dbSNP |
| X | g.67711517C>G | CA517048287 | AR | c.*349C>G (n.*349C>G) c.2001C>G (p.Gly667=) c.628C>G (n.628C>G) c.405C>G (p.Gly135=) c.1431C>G (p.Gly477=) | dbSNP |
| X | g.67711517C>T | CA517048288 | AR | c.*349C>T (n.*349C>T) c.2001C>T (p.Gly667=) c.628C>T (n.628C>T) c.405C>T (p.Gly135=) c.1431C>T (p.Gly477=) | dbSNP |
| X | g.67711518T>A | CA413423195 | AR | c.*350T>A (n.*350T>A) c.2002T>A (p.Tyr668Asn) c.629T>A (n.629T>A) c.406T>A (p.Tyr136Asn) c.1432T>A (p.Tyr478Asn) | dbSNP |
| X | g.67711518T>C | CA413423196 | AR | c.*350T>C (n.*350T>C) c.2002T>C (p.Tyr668His) c.629T>C (n.629T>C) c.406T>C (p.Tyr136His) c.1432T>C (p.Tyr478His) | dbSNP |
| X | g.67711518T>G | CA413423197 | AR | c.*350T>G (n.*350T>G) c.2002T>G (p.Tyr668Asp) c.629T>G (n.629T>G) c.406T>G (p.Tyr136Asp) c.1432T>G (p.Tyr478Asp) | |
| X | g.67711519A= | CA2435130474 | AR | c.*351A= (n.*351A=) c.2003A= (p.Tyr668=) c.630A= (n.630A=) c.407A= (p.Tyr136=) c.1433A= (p.Tyr478=) | |
| X | g.67711519A>C | CA413423198 | AR | c.*351A>C (n.*351A>C) c.2003A>C (p.Tyr668Ser) c.630A>C (n.630A>C) c.407A>C (p.Tyr136Ser) c.1433A>C (p.Tyr478Ser) | |
| X | g.67711519A>G | CA10436565 | AR | c.*351A>G (n.*351A>G) c.2003A>G (p.Tyr668Cys) c.630A>G (n.630A>G) c.407A>G (p.Tyr136Cys) c.1433A>G (p.Tyr478Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711519A>T | CA413423199 | AR | c.*351A>T (n.*351A>T) c.2003A>T (p.Tyr668Phe) c.630A>T (n.630A>T) c.407A>T (p.Tyr136Phe) c.1433A>T (p.Tyr478Phe) | dbSNP |
| X | g.67711520T>A | CA413423200 | AR | c.*352T>A (n.*352T>A) c.2004T>A (p.Tyr668Ter) c.631T>A (n.631T>A) c.408T>A (p.Tyr136Ter) c.1434T>A (p.Tyr478Ter) | dbSNP |
| X | g.67711520T>C | CA517048294 | AR | c.*352T>C (n.*352T>C) c.2004T>C (p.Tyr668=) c.631T>C (n.631T>C) c.408T>C (p.Tyr136=) c.1434T>C (p.Tyr478=) | dbSNP |
| X | g.67711520T>G | CA413423201 | AR | c.*352T>G (n.*352T>G) c.2004T>G (p.Tyr668Ter) c.631T>G (n.631T>G) c.408T>G (p.Tyr136Ter) c.1434T>G (p.Tyr478Ter) | dbSNP |
| X | g.67711521G>A | CA413423202 | AR | c.*353G>A (n.*353G>A) c.2005G>A (p.Glu669Lys) c.632G>A (n.632G>A) c.409G>A (p.Glu137Lys) c.1435G>A (p.Glu479Lys) | dbSNP COSMIC COSMIC |
| X | g.67711521G>C | CA413423203 | AR | c.*353G>C (n.*353G>C) c.2005G>C (p.Glu669Gln) c.632G>C (n.632G>C) c.409G>C (p.Glu137Gln) c.1435G>C (p.Glu479Gln) | dbSNP |
| X | g.67711521G>T | CA413423204 | AR | c.*353G>T (n.*353G>T) c.2005G>T (p.Glu669Ter) c.632G>T (n.632G>T) c.409G>T (p.Glu137Ter) c.1435G>T (p.Glu479Ter) | |
| X | g.67711522A>C | CA413423205 | AR | c.*354A>C (n.*354A>C) c.2006A>C (p.Glu669Ala) c.633A>C (n.633A>C) c.410A>C (p.Glu137Ala) c.1436A>C (p.Glu479Ala) | |
| X | g.67711522A>G | CA413423206 | AR | c.*354A>G (n.*354A>G) c.2006A>G (p.Glu669Gly) c.633A>G (n.633A>G) c.410A>G (p.Glu137Gly) c.1436A>G (p.Glu479Gly) | gnomAD v4 |
| X | g.67711522A>T | CA413423207 | AR | c.*354A>T (n.*354A>T) c.2006A>T (p.Glu669Val) c.633A>T (n.633A>T) c.410A>T (p.Glu137Val) c.1436A>T (p.Glu479Val) | dbSNP |
| X | g.67711523A>C | CA413423208 | AR | c.*355A>C (n.*355A>C) c.2007A>C (p.Glu669Asp) c.634A>C (n.634A>C) c.411A>C (p.Glu137Asp) c.1437A>C (p.Glu479Asp) | |
| X | g.67711523A>G | CA517048296 | AR | c.*355A>G (n.*355A>G) c.2007A>G (p.Glu669=) c.634A>G (n.634A>G) c.411A>G (p.Glu137=) c.1437A>G (p.Glu479=) | gnomAD v4 |
| X | g.67711523A>T | CA413423209 | AR | c.*355A>T (n.*355A>T) c.2007A>T (p.Glu669Asp) c.634A>T (n.634A>T) c.411A>T (p.Glu137Asp) c.1437A>T (p.Glu479Asp) | dbSNP |
| X | g.67711524T>A | CA413423210 | AR | c.*356T>A (n.*356T>A) c.2008T>A (p.Cys670Ser) c.635T>A (n.635T>A) c.412T>A (p.Cys138Ser) c.1438T>A (p.Cys480Ser) | dbSNP gnomAD v4 |
| X | g.67711524T>C | CA413423211 | AR | c.*356T>C (n.*356T>C) c.2008T>C (p.Cys670Arg) c.635T>C (n.635T>C) c.412T>C (p.Cys138Arg) c.1438T>C (p.Cys480Arg) | |
| X | g.67711524T>G | CA413423212 | AR | c.*356T>G (n.*356T>G) c.2008T>G (p.Cys670Gly) c.635T>G (n.635T>G) c.412T>G (p.Cys138Gly) c.1438T>G (p.Cys480Gly) | dbSNP |
| X | g.67711525G>A | CA413423213 | AR | c.*357G>A (n.*357G>A) c.2009G>A (p.Cys670Tyr) c.636G>A (n.636G>A) c.413G>A (p.Cys138Tyr) c.1439G>A (p.Cys480Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711525G>C | CA413423215 | AR | c.*357G>C (n.*357G>C) c.2009G>C (p.Cys670Ser) c.636G>C (n.636G>C) c.413G>C (p.Cys138Ser) c.1439G>C (p.Cys480Ser) | dbSNP |
| X | g.67711525G= | CA2435130475 | AR | c.*357G= (n.*357G=) c.2009G= (p.Cys670=) c.636G= (n.636G=) c.413G= (p.Cys138=) c.1439G= (p.Cys480=) | |
| X | g.67711525G>T | CA413423214 | AR | c.*357G>T (n.*357G>T) c.2009G>T (p.Cys670Phe) c.636G>T (n.636G>T) c.413G>T (p.Cys138Phe) c.1439G>T (p.Cys480Phe) | |
| X | g.67711525dup | CA2695234359 | AR | c.*357dup (n.*357dup) c.2009dup (p.Cys670TrpfsTer13) c.636dup (n.636dup) c.413dup (p.Cys138TrpfsTer13) c.1439dup (p.Cys480TrpfsTer13) | |
| X | g.67711526T>A | CA413423216 | AR | c.*358T>A (n.*358T>A) c.2010T>A (p.Cys670Ter) c.637T>A (n.637T>A) c.414T>A (p.Cys138Ter) c.1440T>A (p.Cys480Ter) | dbSNP |
| X | g.67711526T>C | CA517048302 | AR | c.*358T>C (n.*358T>C) c.2010T>C (p.Cys670=) c.637T>C (n.637T>C) c.414T>C (p.Cys138=) c.1440T>C (p.Cys480=) | dbSNP |
| X | g.67711526T>G | CA413423217 | AR | c.*358T>G (n.*358T>G) c.2010T>G (p.Cys670Trp) c.637T>G (n.637T>G) c.414T>G (p.Cys138Trp) c.1440T>G (p.Cys480Trp) | dbSNP |
| X | g.67711527C>A | CA413423218 | AR | c.*359C>A (n.*359C>A) c.2011C>A (p.Gln671Lys) c.638C>A (n.638C>A) c.415C>A (p.Gln139Lys) c.1441C>A (p.Gln481Lys) | dbSNP |
| X | g.67711527C>G | CA413423219 | AR | c.*359C>G (n.*359C>G) c.2011C>G (p.Gln671Glu) c.638C>G (n.638C>G) c.415C>G (p.Gln139Glu) c.1441C>G (p.Gln481Glu) | dbSNP |
| X | g.67711527C>T | CA413423220 | AR | c.*359C>T (n.*359C>T) c.2011C>T (p.Gln671Ter) c.638C>T (n.638C>T) c.415C>T (p.Gln139Ter) c.1441C>T (p.Gln481Ter) | dbSNP |
| X | g.67711528A>C | CA413423221 | AR | c.*360A>C (n.*360A>C) c.2012A>C (p.Gln671Pro) c.639A>C (n.639A>C) c.416A>C (p.Gln139Pro) c.1442A>C (p.Gln481Pro) | |
| X | g.67711528A>G | CA413423222 | AR | c.*360A>G (n.*360A>G) c.2012A>G (p.Gln671Arg) c.639A>G (n.639A>G) c.416A>G (p.Gln139Arg) c.1442A>G (p.Gln481Arg) | dbSNP COSMIC |
| X | g.67711528A>T | CA413423223 | AR | c.*360A>T (n.*360A>T) c.2012A>T (p.Gln671Leu) c.639A>T (n.639A>T) c.416A>T (p.Gln139Leu) c.1442A>T (p.Gln481Leu) | dbSNP COSMIC COSMIC |
| X | g.67711529G>A | CA517048307 | AR | c.*361G>A (n.*361G>A) c.2013G>A (p.Gln671=) c.640G>A (n.640G>A) c.417G>A (p.Gln139=) c.1443G>A (p.Gln481=) | |
| X | g.67711529G>C | CA330771344 | AR | c.*361G>C (n.*361G>C) c.2013G>C (p.Gln671His) c.640G>C (n.640G>C) c.417G>C (p.Gln139His) c.1443G>C (p.Gln481His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711529G= | CA2435130476 | AR | c.*361G= (n.*361G=) c.2013G= (p.Gln671=) c.640G= (n.640G=) c.417G= (p.Gln139=) c.1443G= (p.Gln481=) | |
| X | g.67711529G>T | CA413423224 | AR | c.*361G>T (n.*361G>T) c.2013G>T (p.Gln671His) c.640G>T (n.640G>T) c.417G>T (p.Gln139His) c.1443G>T (p.Gln481His) | |
| X | g.67711530C>A | CA413423227 | AR | c.*362C>A (n.*362C>A) c.2014C>A (p.Pro672Thr) c.641C>A (n.641C>A) c.418C>A (p.Pro140Thr) c.1444C>A (p.Pro482Thr) | dbSNP |
| X | g.67711530C>G | CA413423226 | AR | c.*362C>G (n.*362C>G) c.2014C>G (p.Pro672Ala) c.641C>G (n.641C>G) c.418C>G (p.Pro140Ala) c.1444C>G (p.Pro482Ala) | dbSNP |
| X | g.67711530C>T | CA413423225 | AR | c.*362C>T (n.*362C>T) c.2014C>T (p.Pro672Ser) c.641C>T (n.641C>T) c.418C>T (p.Pro140Ser) c.1444C>T (p.Pro482Ser) | dbSNP |
| X | g.67711532del | CA2738708463 | AR | c.*364del (n.*364del) c.2016del (p.Ile673SerfsTer3) c.643del (n.643del) c.420del (p.Ile141SerfsTer3) c.1446del (p.Ile483SerfsTer3) | dbSNP |
| X | g.67711531C>A | CA413423228 | AR | c.*363C>A (n.*363C>A) c.2015C>A (p.Pro672His) c.642C>A (n.642C>A) c.419C>A (p.Pro140His) c.1445C>A (p.Pro482His) | dbSNP |
| X | g.67711531C>G | CA413423230 | AR | c.*363C>G (n.*363C>G) c.2015C>G (p.Pro672Arg) c.642C>G (n.642C>G) c.419C>G (p.Pro140Arg) c.1445C>G (p.Pro482Arg) | dbSNP |
| X | g.67711531C>T | CA413423229 | AR | c.*363C>T (n.*363C>T) c.2015C>T (p.Pro672Leu) c.642C>T (n.642C>T) c.419C>T (p.Pro140Leu) c.1445C>T (p.Pro482Leu) | dbSNP |
| X | g.67711532C>A | CA10436566 | AR | c.*364C>A (n.*364C>A) c.2016C>A (p.Pro672=) c.643C>A (n.643C>A) c.420C>A (p.Pro140=) c.1446C>A (p.Pro482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711532C= | CA2435130477 | AR | c.*364C= (n.*364C=) c.2016C= (p.Pro672=) c.643C= (n.643C=) c.420C= (p.Pro140=) c.1446C= (p.Pro482=) | |
| X | g.67711532C>G | CA517048311 | AR | c.*364C>G (n.*364C>G) c.2016C>G (p.Pro672=) c.643C>G (n.643C>G) c.420C>G (p.Pro140=) c.1446C>G (p.Pro482=) | dbSNP |
| X | g.67711532C>T | CA517048313 | AR | c.*364C>T (n.*364C>T) c.2016C>T (p.Pro672=) c.643C>T (n.643C>T) c.420C>T (p.Pro140=) c.1446C>T (p.Pro482=) | dbSNP |
| X | g.67711533A= | CA2435130478 | AR | c.*365A= (n.*365A=) c.2017A= (p.Ile673=) c.644A= (n.644A=) c.421A= (p.Ile141=) c.1447A= (p.Ile483=) | |
| X | g.67711533A>C | CA413423231 | AR | c.*365A>C (n.*365A>C) c.2017A>C (p.Ile673Leu) c.644A>C (n.644A>C) c.421A>C (p.Ile141Leu) c.1447A>C (p.Ile483Leu) | dbSNP |
| X | g.67711533A>G | CA10436567 | AR | c.*365A>G (n.*365A>G) c.2017A>G (p.Ile673Val) c.644A>G (n.644A>G) c.421A>G (p.Ile141Val) c.1447A>G (p.Ile483Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.67711533A>T | CA413423232 | AR | c.*365A>T (n.*365A>T) c.2017A>T (p.Ile673Phe) c.644A>T (n.644A>T) c.421A>T (p.Ile141Phe) c.1447A>T (p.Ile483Phe) | dbSNP |
| X | g.67711534T>A | CA413423233 | AR | c.*366T>A (n.*366T>A) c.2018T>A (p.Ile673Asn) c.645T>A (n.645T>A) c.422T>A (p.Ile141Asn) c.1448T>A (p.Ile483Asn) | dbSNP |
| X | g.67711534T>C | CA413423234 | AR | c.*366T>C (n.*366T>C) c.2018T>C (p.Ile673Thr) c.645T>C (n.645T>C) c.422T>C (p.Ile141Thr) c.1448T>C (p.Ile483Thr) | dbSNP COSMIC |
| X | g.67711534T>G | CA413423235 | AR | c.*366T>G (n.*366T>G) c.2018T>G (p.Ile673Ser) c.645T>G (n.645T>G) c.422T>G (p.Ile141Ser) c.1448T>G (p.Ile483Ser) | dbSNP |
| X | g.67711535C>A | CA517048314 | AR | c.*367C>A (n.*367C>A) c.2019C>A (p.Ile673=) c.646C>A (n.646C>A) c.423C>A (p.Ile141=) c.1449C>A (p.Ile483=) | |
| X | g.67711535C>G | CA413423236 | AR | c.*367C>G (n.*367C>G) c.2019C>G (p.Ile673Met) c.646C>G (n.646C>G) c.423C>G (p.Ile141Met) c.1449C>G (p.Ile483Met) | |
| X | g.67711535C>T | CA517048315 | AR | c.*367C>T (n.*367C>T) c.2019C>T (p.Ile673=) c.646C>T (n.646C>T) c.423C>T (p.Ile141=) c.1449C>T (p.Ile483=) | dbSNP |
| X | g.67711536T>A | CA413423237 | AR | c.*368T>A (n.*368T>A) c.2020T>A (p.Phe674Ile) c.647T>A (n.647T>A) c.424T>A (p.Phe142Ile) c.1450T>A (p.Phe484Ile) | dbSNP |
| X | g.67711536T>C | CA413423238 | AR | c.*368T>C (n.*368T>C) c.2020T>C (p.Phe674Leu) c.647T>C (n.647T>C) c.424T>C (p.Phe142Leu) c.1450T>C (p.Phe484Leu) | dbSNP |
| X | g.67711536T>G | CA413423239 | AR | c.*368T>G (n.*368T>G) c.2020T>G (p.Phe674Val) c.647T>G (n.647T>G) c.424T>G (p.Phe142Val) c.1450T>G (p.Phe484Val) | |
| X | g.67711537T>A | CA413423240 | AR | c.*369T>A (n.*369T>A) c.2021T>A (p.Phe674Tyr) c.648T>A (n.648T>A) c.425T>A (p.Phe142Tyr) c.1451T>A (p.Phe484Tyr) | dbSNP |
| X | g.67711537T>C | CA413423241 | AR | c.*369T>C (n.*369T>C) c.2021T>C (p.Phe674Ser) c.648T>C (n.648T>C) c.425T>C (p.Phe142Ser) c.1451T>C (p.Phe484Ser) | ClinVar dbSNP |
| X | g.67711537T>G | CA413423242 | AR | c.*369T>G (n.*369T>G) c.2021T>G (p.Phe674Cys) c.648T>G (n.648T>G) c.425T>G (p.Phe142Cys) c.1451T>G (p.Phe484Cys) | |
| X | g.67711537T= | CA2435130479 | AR | c.*369T= (n.*369T=) c.2021T= (p.Phe674=) c.648T= (n.648T=) c.425T= (p.Phe142=) c.1451T= (p.Phe484=) | |
| X | g.67711538T>A | CA413423245 | AR | c.*370T>A (n.*370T>A) c.2022T>A (p.Phe674Leu) c.649T>A (n.649T>A) c.426T>A (p.Phe142Leu) c.1452T>A (p.Phe484Leu) | |
| X | g.67711538T>C | CA517048322 | AR | c.*370T>C (n.*370T>C) c.2022T>C (p.Phe674=) c.649T>C (n.649T>C) c.426T>C (p.Phe142=) c.1452T>C (p.Phe484=) | |
| X | g.67711538T>G | CA413423244 | AR | c.*370T>G (n.*370T>G) c.2022T>G (p.Phe674Leu) c.649T>G (n.649T>G) c.426T>G (p.Phe142Leu) c.1452T>G (p.Phe484Leu) | |
| X | g.67711539C>A | CA413423246 | AR | c.*371C>A (n.*371C>A) c.2023C>A (p.Leu675Met) c.650C>A (n.650C>A) c.427C>A (p.Leu143Met) c.1453C>A (p.Leu485Met) | dbSNP |
| X | g.67711539C>G | CA413423247 | AR | c.*371C>G (n.*371C>G) c.2023C>G (p.Leu675Val) c.650C>G (n.650C>G) c.427C>G (p.Leu143Val) c.1453C>G (p.Leu485Val) | dbSNP |
| X | g.67711539C>T | CA517048323 | AR | c.*371C>T (n.*371C>T) c.2023C>T (p.Leu675=) c.650C>T (n.650C>T) c.427C>T (p.Leu143=) c.1453C>T (p.Leu485=) | dbSNP |
| X | g.67711540T>A | CA413423248 | AR | c.*372T>A (n.*372T>A) c.2024T>A (p.Leu675Gln) c.651T>A (n.651T>A) c.428T>A (p.Leu143Gln) c.1454T>A (p.Leu485Gln) | dbSNP |
| X | g.67711540T>C | CA413423249 | AR | c.*372T>C (n.*372T>C) c.2024T>C (p.Leu675Pro) c.651T>C (n.651T>C) c.428T>C (p.Leu143Pro) c.1454T>C (p.Leu485Pro) | dbSNP COSMIC COSMIC |
| X | g.67711540T>G | CA413423250 | AR | c.*372T>G (n.*372T>G) c.2024T>G (p.Leu675Arg) c.651T>G (n.651T>G) c.428T>G (p.Leu143Arg) c.1454T>G (p.Leu485Arg) | |
| X | g.67711541G>A | CA517048325 | AR | c.*373G>A (n.*373G>A) c.2025G>A (p.Leu675=) c.652G>A (n.652G>A) c.429G>A (p.Leu143=) c.1455G>A (p.Leu485=) | dbSNP |
| X | g.67711541G>C | CA517048326 | AR | c.*373G>C (n.*373G>C) c.2025G>C (p.Leu675=) c.652G>C (n.652G>C) c.429G>C (p.Leu143=) c.1455G>C (p.Leu485=) | dbSNP |
| X | g.67711541G>T | CA517048328 | AR | c.*373G>T (n.*373G>T) c.2025G>T (p.Leu675=) c.652G>T (n.652G>T) c.429G>T (p.Leu143=) c.1455G>T (p.Leu485=) | dbSNP |
| X | g.67711542A>C | CA413423251 | AR | c.*374A>C (n.*374A>C) c.2026A>C (p.Asn676His) c.653A>C (n.653A>C) c.430A>C (p.Asn144His) c.1456A>C (p.Asn486His) | |
| X | g.67711542A>G | CA413423252 | AR | c.*374A>G (n.*374A>G) c.2026A>G (p.Asn676Asp) c.653A>G (n.653A>G) c.430A>G (p.Asn144Asp) c.1456A>G (p.Asn486Asp) | |
| X | g.67711542A>T | CA413423253 | AR | c.*374A>T (n.*374A>T) c.2026A>T (p.Asn676Tyr) c.653A>T (n.653A>T) c.430A>T (p.Asn144Tyr) c.1456A>T (p.Asn486Tyr) | dbSNP |
| X | g.67711543A>C | CA413423254 | AR | c.*375A>C (n.*375A>C) c.2027A>C (p.Asn676Thr) c.654A>C (n.654A>C) c.431A>C (p.Asn144Thr) c.1457A>C (p.Asn486Thr) | dbSNP |
| X | g.67711543A>G | CA413423255 | AR | c.*375A>G (n.*375A>G) c.2027A>G (p.Asn676Ser) c.654A>G (n.654A>G) c.431A>G (p.Asn144Ser) c.1457A>G (p.Asn486Ser) | dbSNP gnomAD v4 |
| X | g.67711543A>T | CA413423256 | AR | c.*375A>T (n.*375A>T) c.2027A>T (p.Asn676Ile) c.654A>T (n.654A>T) c.431A>T (p.Asn144Ile) c.1457A>T (p.Asn486Ile) | dbSNP |
| X | g.67711544T>A | CA413423257 | AR | c.*376T>A (n.*376T>A) c.2028T>A (p.Asn676Lys) c.655T>A (n.655T>A) c.432T>A (p.Asn144Lys) c.1458T>A (p.Asn486Lys) | dbSNP |
| X | g.67711544T>C | CA517048333 | AR | c.*376T>C (n.*376T>C) c.2028T>C (p.Asn676=) c.655T>C (n.655T>C) c.432T>C (p.Asn144=) c.1458T>C (p.Asn486=) | dbSNP |
| X | g.67711544T>G | CA413423258 | AR | c.*376T>G (n.*376T>G) c.2028T>G (p.Asn676Lys) c.655T>G (n.655T>G) c.432T>G (p.Asn144Lys) c.1458T>G (p.Asn486Lys) | dbSNP |
| X | g.67711545G>A | CA413423259 | AR | c.*377G>A (n.*377G>A) c.2029G>A (p.Val677Ile) c.656G>A (n.656G>A) c.433G>A (p.Val145Ile) c.1459G>A (p.Val487Ile) | dbSNP |
| X | g.67711545G>C | CA413423261 | AR | c.*377G>C (n.*377G>C) c.2029G>C (p.Val677Leu) c.656G>C (n.656G>C) c.433G>C (p.Val145Leu) c.1459G>C (p.Val487Leu) | dbSNP |
| X | g.67711545G>T | CA413423260 | AR | c.*377G>T (n.*377G>T) c.2029G>T (p.Val677Phe) c.656G>T (n.656G>T) c.433G>T (p.Val145Phe) c.1459G>T (p.Val487Phe) | |
| X | g.67711546T>A | CA413423262 | AR | c.*378T>A (n.*378T>A) c.2030T>A (p.Val677Asp) c.657T>A (n.657T>A) c.434T>A (p.Val145Asp) c.1460T>A (p.Val487Asp) | |
| X | g.67711546T>C | CA413423263 | AR | c.*378T>C (n.*378T>C) c.2030T>C (p.Val677Ala) c.657T>C (n.657T>C) c.434T>C (p.Val145Ala) c.1460T>C (p.Val487Ala) | |
| X | g.67711546T>G | CA413423264 | AR | c.*378T>G (n.*378T>G) c.2030T>G (p.Val677Gly) c.657T>G (n.657T>G) c.434T>G (p.Val145Gly) c.1460T>G (p.Val487Gly) | |
| X | g.67711547C>A | CA517048336 | AR | c.*379C>A (n.*379C>A) c.2031C>A (p.Val677=) c.658C>A (n.658C>A) c.435C>A (p.Val145=) c.1461C>A (p.Val487=) | dbSNP COSMIC COSMIC |
| X | g.67711547C= | CA2435130480 | AR | c.*379C= (n.*379C=) c.2031C= (p.Val677=) c.658C= (n.658C=) c.435C= (p.Val145=) c.1461C= (p.Val487=) | |
| X | g.67711547C>G | CA517048338 | AR | c.*379C>G (n.*379C>G) c.2031C>G (p.Val677=) c.658C>G (n.658C>G) c.435C>G (p.Val145=) c.1461C>G (p.Val487=) | dbSNP |
| X | g.67711547C>T | CA517048339 | AR | c.*379C>T (n.*379C>T) c.2031C>T (p.Val677=) c.658C>T (n.658C>T) c.435C>T (p.Val145=) c.1461C>T (p.Val487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711548C>A | CA413423265 | AR | c.*380C>A (n.*380C>A) c.2032C>A (p.Leu678Met) c.659C>A (n.659C>A) c.436C>A (p.Leu146Met) c.1462C>A (p.Leu488Met) | dbSNP |
| X | g.67711548C>G | CA413423266 | AR | c.*380C>G (n.*380C>G) c.2032C>G (p.Leu678Val) c.659C>G (n.659C>G) c.436C>G (p.Leu146Val) c.1462C>G (p.Leu488Val) | dbSNP |
| X | g.67711548C>T | CA517048341 | AR | c.*380C>T (n.*380C>T) c.2032C>T (p.Leu678=) c.659C>T (n.659C>T) c.436C>T (p.Leu146=) c.1462C>T (p.Leu488=) | dbSNP |
| X | g.67711549T>A | CA413423267 | AR | c.*381T>A (n.*381T>A) c.2033T>A (p.Leu678Gln) c.660T>A (n.660T>A) c.437T>A (p.Leu146Gln) c.1463T>A (p.Leu488Gln) | |
| X | g.67711549T>C | CA120740 | AR | c.*381T>C (n.*381T>C) c.2033T>C (p.Leu678Pro) c.660T>C (n.660T>C) c.437T>C (p.Leu146Pro) c.1463T>C (p.Leu488Pro) | ClinVar dbSNP |
| X | g.67711549T>G | CA413423268 | AR | c.*381T>G (n.*381T>G) c.2033T>G (p.Leu678Arg) c.660T>G (n.660T>G) c.437T>G (p.Leu146Arg) c.1463T>G (p.Leu488Arg) | |
| X | g.67711549T= | CA2435130481 | AR | c.*381T= (n.*381T=) c.2033T= (p.Leu678=) c.660T= (n.660T=) c.437T= (p.Leu146=) c.1463T= (p.Leu488=) | |
| X | g.67711550G>A | CA517048344 | AR | c.*382G>A (n.*382G>A) c.2034G>A (p.Leu678=) c.661G>A (n.661G>A) c.438G>A (p.Leu146=) c.1464G>A (p.Leu488=) | dbSNP |
| X | g.67711550G>C | CA517048343 | AR | c.*382G>C (n.*382G>C) c.2034G>C (p.Leu678=) c.661G>C (n.661G>C) c.438G>C (p.Leu146=) c.1464G>C (p.Leu488=) | dbSNP |
| X | g.67711550G>T | CA517048342 | AR | c.*382G>T (n.*382G>T) c.2034G>T (p.Leu678=) c.661G>T (n.661G>T) c.438G>T (p.Leu146=) c.1464G>T (p.Leu488=) | |
| X | g.67711551G>A | CA413423269 | AR | c.*383G>A (n.*383G>A) c.2035G>A (p.Glu679Lys) c.662G>A (n.662G>A) c.439G>A (p.Glu147Lys) c.1465G>A (p.Glu489Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.67711551G>C | CA413423270 | AR | c.*383G>C (n.*383G>C) c.2035G>C (p.Glu679Gln) c.662G>C (n.662G>C) c.439G>C (p.Glu147Gln) c.1465G>C (p.Glu489Gln) | dbSNP |
| X | g.67711551G= | CA2435130482 | AR | c.*383G= (n.*383G=) c.2035G= (p.Glu679=) c.662G= (n.662G=) c.439G= (p.Glu147=) c.1465G= (p.Glu489=) | |
| X | g.67711551G>T | CA413423271 | AR | c.*383G>T (n.*383G>T) c.2035G>T (p.Glu679Ter) c.662G>T (n.662G>T) c.439G>T (p.Glu147Ter) c.1465G>T (p.Glu489Ter) | dbSNP |
| X | g.67711552A>C | CA413423274 | AR | c.*384A>C (n.*384A>C) c.2036A>C (p.Glu679Ala) c.663A>C (n.663A>C) c.440A>C (p.Glu147Ala) c.1466A>C (p.Glu489Ala) | |
| X | g.67711552A>G | CA413423273 | AR | c.*384A>G (n.*384A>G) c.2036A>G (p.Glu679Gly) c.663A>G (n.663A>G) c.440A>G (p.Glu147Gly) c.1466A>G (p.Glu489Gly) | dbSNP |
| X | g.67711552A>T | CA413423272 | AR | c.*384A>T (n.*384A>T) c.2036A>T (p.Glu679Val) c.663A>T (n.663A>T) c.440A>T (p.Glu147Val) c.1466A>T (p.Glu489Val) | dbSNP |
| X | g.67711552_67711570delinsAAGCCATTGAGCCAGGTGT | CA2435130483 | AR | c.*384_*402delinsAAGCCATTGAGCCAGGTGT (n.*384_*402delinsAAGCCATTGAGCCAGGTGT) c.2036_2054delinsAAGCCATTGAGCCAGGTGT (p.Glu679=) c.663_681delinsAAGCCATTGAGCCAGGTGT (n.663_681delinsAAGCCATTGAGCCAGGTGT) c.440_458delinsAAGCCATTGAGCCAGGTGT (p.Glu147=) c.1466_1484delinsAAGCCATTGAGCCAGGTGT (p.Glu489=) | |
| X | g.67711553A= | CA2435130484 | AR | c.*385A= (n.*385A=) c.2037A= (p.Glu679=) c.664A= (n.664A=) c.441A= (p.Glu147=) c.1467A= (p.Glu489=) | |
| X | g.67711553A>C | CA413423275 | AR | c.*385A>C (n.*385A>C) c.2037A>C (p.Glu679Asp) c.664A>C (n.664A>C) c.441A>C (p.Glu147Asp) c.1467A>C (p.Glu489Asp) | ClinVar dbSNP |
| X | g.67711553A>G | CA517048350 | AR | c.*385A>G (n.*385A>G) c.2037A>G (p.Glu679=) c.664A>G (n.664A>G) c.441A>G (p.Glu147=) c.1467A>G (p.Glu489=) | dbSNP |
| X | g.67711553A>T | CA413423276 | AR | c.*385A>T (n.*385A>T) c.2037A>T (p.Glu679Asp) c.664A>T (n.664A>T) c.441A>T (p.Glu147Asp) c.1467A>T (p.Glu489Asp) | dbSNP |
| X | g.67711555_67711572del | CA16043328 | AR | c.*387_*404del (n.*387_*404del) c.2039_2056del (p.Ala680_Val685del) c.666_683del (n.666_683del) c.443_460del (p.Ala148_Val153del) c.1469_1486del (p.Ala490_Val495del) | ClinVar dbSNP |
| X | g.67711554G>A | CA413423277 | AR | c.*386G>A (n.*386G>A) c.2038G>A (p.Ala680Thr) c.665G>A (n.665G>A) c.442G>A (p.Ala148Thr) c.1468G>A (p.Ala490Thr) | dbSNP |
| X | g.67711554G>C | CA413423278 | AR | c.*386G>C (n.*386G>C) c.2038G>C (p.Ala680Pro) c.665G>C (n.665G>C) c.442G>C (p.Ala148Pro) c.1468G>C (p.Ala490Pro) | dbSNP |
| X | g.67711554G>T | CA413423279 | AR | c.*386G>T (n.*386G>T) c.2038G>T (p.Ala680Ser) c.665G>T (n.665G>T) c.442G>T (p.Ala148Ser) c.1468G>T (p.Ala490Ser) | |
| X | g.67711555C>A | CA413423280 | AR | c.*387C>A (n.*387C>A) c.2039C>A (p.Ala680Asp) c.666C>A (n.666C>A) c.443C>A (p.Ala148Asp) c.1469C>A (p.Ala490Asp) | |
| X | g.67711555C= | CA2435130485 | AR | c.*387C= (n.*387C=) c.2039C= (p.Ala680=) c.666C= (n.666C=) c.443C= (p.Ala148=) c.1469C= (p.Ala490=) | |
| X | g.67711555C>G | CA10436569 | AR | c.*387C>G (n.*387C>G) c.2039C>G (p.Ala680Gly) c.666C>G (n.666C>G) c.443C>G (p.Ala148Gly) c.1469C>G (p.Ala490Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711555C>T | CA10436568 | AR | c.*387C>T (n.*387C>T) c.2039C>T (p.Ala680Val) c.666C>T (n.666C>T) c.443C>T (p.Ala148Val) c.1469C>T (p.Ala490Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.67711556C>A | CA517048352 | AR | c.*388C>A (n.*388C>A) c.2040C>A (p.Ala680=) c.667C>A (n.667C>A) c.444C>A (p.Ala148=) c.1470C>A (p.Ala490=) | dbSNP |
| X | g.67711556C>G | CA517048355 | AR | c.*388C>G (n.*388C>G) c.2040C>G (p.Ala680=) c.667C>G (n.667C>G) c.444C>G (p.Ala148=) c.1470C>G (p.Ala490=) | dbSNP |
| X | g.67711556C>T | CA517048357 | AR | c.*388C>T (n.*388C>T) c.2040C>T (p.Ala680=) c.667C>T (n.667C>T) c.444C>T (p.Ala148=) c.1470C>T (p.Ala490=) | |
| X | g.67711557A>C | CA413423281 | AR | c.*389A>C (n.*389A>C) c.2041A>C (p.Ile681Leu) c.668A>C (n.668A>C) c.445A>C (p.Ile149Leu) c.1471A>C (p.Ile491Leu) | dbSNP |
| X | g.67711557A>G | CA413423282 | AR | c.*389A>G (n.*389A>G) c.2041A>G (p.Ile681Val) c.668A>G (n.668A>G) c.445A>G (p.Ile149Val) c.1471A>G (p.Ile491Val) | dbSNP |
| X | g.67711557A>T | CA413423283 | AR | c.*389A>T (n.*389A>T) c.2041A>T (p.Ile681Phe) c.668A>T (n.668A>T) c.445A>T (p.Ile149Phe) c.1471A>T (p.Ile491Phe) | dbSNP |
| X | g.67711558T>A | CA413423286 | AR | c.*390T>A (n.*390T>A) c.2042T>A (p.Ile681Asn) c.669T>A (n.669T>A) c.446T>A (p.Ile149Asn) c.1472T>A (p.Ile491Asn) | ClinVar dbSNP |
| X | g.67711558T>C | CA413423285 | AR | c.*390T>C (n.*390T>C) c.2042T>C (p.Ile681Thr) c.669T>C (n.669T>C) c.446T>C (p.Ile149Thr) c.1472T>C (p.Ile491Thr) | ClinVar dbSNP |
| X | g.67711558T>G | CA413423284 | AR | c.*390T>G (n.*390T>G) c.2042T>G (p.Ile681Ser) c.669T>G (n.669T>G) c.446T>G (p.Ile149Ser) c.1472T>G (p.Ile491Ser) | dbSNP |
| X | g.67711558T= | CA2435130486 | AR | c.*390T= (n.*390T=) c.2042T= (p.Ile681=) c.669T= (n.669T=) c.446T= (p.Ile149=) c.1472T= (p.Ile491=) | |
| X | g.67711559T>A | CA517048358 | AR | c.*391T>A (n.*391T>A) c.2043T>A (p.Ile681=) c.670T>A (n.670T>A) c.447T>A (p.Ile149=) c.1473T>A (p.Ile491=) | dbSNP |
| X | g.67711559T>C | CA517048359 | AR | c.*391T>C (n.*391T>C) c.2043T>C (p.Ile681=) c.670T>C (n.670T>C) c.447T>C (p.Ile149=) c.1473T>C (p.Ile491=) | dbSNP |
| X | g.67711559T>G | CA413423287 | AR | c.*391T>G (n.*391T>G) c.2043T>G (p.Ile681Met) c.670T>G (n.670T>G) c.447T>G (p.Ile149Met) c.1473T>G (p.Ile491Met) | dbSNP |
| X | g.67711560G>A | CA413423290 | AR | c.*392G>A (n.*392G>A) c.2044G>A (p.Glu682Lys) c.671G>A (n.671G>A) c.448G>A (p.Glu150Lys) c.1474G>A (p.Glu492Lys) | ClinVar dbSNP COSMIC |
| X | g.67711560G>C | CA413423288 | AR | c.*392G>C (n.*392G>C) c.2044G>C (p.Glu682Gln) c.671G>C (n.671G>C) c.448G>C (p.Glu150Gln) c.1474G>C (p.Glu492Gln) | dbSNP |
| X | g.67711560G= | CA2435130487 | AR | c.*392G= (n.*392G=) c.2044G= (p.Glu682=) c.671G= (n.671G=) c.448G= (p.Glu150=) c.1474G= (p.Glu492=) | |
| X | g.67711560G>T | CA413423289 | AR | c.*392G>T (n.*392G>T) c.2044G>T (p.Glu682Ter) c.671G>T (n.671G>T) c.448G>T (p.Glu150Ter) c.1474G>T (p.Glu492Ter) | dbSNP |
| X | g.67711561A>C | CA413423291 | AR | c.*393A>C (n.*393A>C) c.2045A>C (p.Glu682Ala) c.672A>C (n.672A>C) c.449A>C (p.Glu150Ala) c.1475A>C (p.Glu492Ala) | |
| X | g.67711561A>G | CA413423292 | AR | c.*393A>G (n.*393A>G) c.2045A>G (p.Glu682Gly) c.672A>G (n.672A>G) c.449A>G (p.Glu150Gly) c.1475A>G (p.Glu492Gly) | dbSNP |
| X | g.67711561A>T | CA413423293 | AR | c.*393A>T (n.*393A>T) c.2045A>T (p.Glu682Val) c.672A>T (n.672A>T) c.449A>T (p.Glu150Val) c.1475A>T (p.Glu492Val) | dbSNP |
| X | g.67711562G>A | CA517048366 | AR | c.*394G>A (n.*394G>A) c.2046G>A (p.Glu682=) c.673G>A (n.673G>A) c.450G>A (p.Glu150=) c.1476G>A (p.Glu492=) | dbSNP gnomAD v4 |
| X | g.67711562G>C | CA413423294 | AR | c.*394G>C (n.*394G>C) c.2046G>C (p.Glu682Asp) c.673G>C (n.673G>C) c.450G>C (p.Glu150Asp) c.1476G>C (p.Glu492Asp) | |
| X | g.67711562G>T | CA413423295 | AR | c.*394G>T (n.*394G>T) c.2046G>T (p.Glu682Asp) c.673G>T (n.673G>T) c.450G>T (p.Glu150Asp) c.1476G>T (p.Glu492Asp) | COSMIC COSMIC COSMIC |
| X | g.67711563C>A | CA413423296 | AR | c.*395C>A (n.*395C>A) c.2047C>A (p.Pro683Thr) c.674C>A (n.674C>A) c.451C>A (p.Pro151Thr) c.1477C>A (p.Pro493Thr) | dbSNP |
| X | g.67711563C= | CA2435130488 | AR | c.*395C= (n.*395C=) c.2047C= (p.Pro683=) c.674C= (n.674C=) c.451C= (p.Pro151=) c.1477C= (p.Pro493=) | |
| X | g.67711563C>G | CA413423297 | AR | c.*395C>G (n.*395C>G) c.2047C>G (p.Pro683Ala) c.674C>G (n.674C>G) c.451C>G (p.Pro151Ala) c.1477C>G (p.Pro493Ala) | dbSNP |
| X | g.67711563C>T | CA413423298 | AR | c.*395C>T (n.*395C>T) c.2047C>T (p.Pro683Ser) c.674C>T (n.674C>T) c.451C>T (p.Pro151Ser) c.1477C>T (p.Pro493Ser) | ClinVar dbSNP |