Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31541175A>TCA2576480547DSG2c.1880-18A>T (n.1880-18A>T)
c.1346-18A>T (n.1346-18A>T)
18g.31541176A=CA2293864076DSG2c.1880-17A= (n.1880-17A=)
c.1346-17A= (n.1346-17A=)
18g.31541176A>CCA629148984DSG2c.1880-17A>C (n.1880-17A>C)
c.1346-17A>C (n.1346-17A>C)
 dbSNP gnomAD v2
18g.31541176A>GCA2573155324DSG2c.1880-17A>G (n.1880-17A>G)
c.1346-17A>G (n.1346-17A>G)
 ClinVar dbSNP gnomAD v4
18g.31541179T>ACA2641406992DSG2c.1880-14T>A (n.1880-14T>A)
c.1346-14T>A (n.1346-14T>A)
 gnomAD v4
18g.31541179T>CCA2641406993DSG2c.1880-14T>C (n.1880-14T>C)
c.1346-14T>C (n.1346-14T>C)
 gnomAD v4
18g.31541179T>GCA2641406994DSG2c.1880-14T>G (n.1880-14T>G)
c.1346-14T>G (n.1346-14T>G)
 ClinVar gnomAD v4
18g.31541181G>ACA2641406995DSG2c.1880-12G>A (n.1880-12G>A)
c.1346-12G>A (n.1346-12G>A)
 gnomAD v4
18g.31541181G>CCA2576480548DSG2c.1880-12G>C (n.1880-12G>C)
c.1346-12G>C (n.1346-12G>C)
18g.31541181G=CA2293864077DSG2c.1880-12G= (n.1880-12G=)
c.1346-12G= (n.1346-12G=)
18g.31541181G>TCA629148987DSG2c.1880-12G>T (n.1880-12G>T)
c.1346-12G>T (n.1346-12G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31541182delCA2641406996DSG2c.1880-11del (n.1880-11del)
c.1346-11del (n.1346-11del)
 gnomAD v4
18g.31541182T>CCA044095DSG2c.1880-11T>C (n.1880-11T>C)
c.1346-11T>C (n.1346-11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541182T=CA2293864078DSG2c.1880-11T= (n.1880-11T=)
c.1346-11T= (n.1346-11T=)
18g.31541183G>ACA2499225125DSG2c.1880-10G>A (n.1880-10G>A)
c.1346-10G>A (n.1346-10G>A)
 ClinVar dbSNP gnomAD v4
18g.31541184_31541199delCA2641406997DSG2c.1880-9_1886del
c.1346-9_1352del
 gnomAD v4
18g.31541186T>CCA2576480549DSG2c.1880-7T>C (n.1880-7T>C)
c.1346-7T>C (n.1346-7T>C)
 gnomAD v4
18g.31541187G>ACA778420993DSG2c.1880-6G>A (n.1880-6G>A)
c.1346-6G>A (n.1346-6G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31541187G=CA2293864079DSG2c.1880-6G= (n.1880-6G=)
c.1346-6G= (n.1346-6G=)
18g.31541190C=CA2293864080DSG2c.1880-3C= (n.1880-3C=)
c.1346-3C= (n.1346-3C=)
18g.31541190C>TCA988927513DSG2c.1880-3C>T (n.1880-3C>T)
c.1346-3C>T (n.1346-3C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31541191A=CA2293864081DSG2c.1880-2A= (n.1880-2A=)
c.1346-2A= (n.1346-2A=)
18g.31541191A>CCA402138976DSG2c.1880-2A>C (n.1880-2A>C)
c.1346-2A>C (n.1346-2A>C)
18g.31541191A>GCA021604DSG2c.1880-2A>G (n.1880-2A>G)
c.1346-2A>G (n.1346-2A>G)
 ClinVar dbSNP gnomAD v4
18g.31541191A>TCA402138987DSG2c.1880-2A>T (n.1880-2A>T)
c.1346-2A>T (n.1346-2A>T)
18g.31541192G>ACA402139000DSG2c.1880-1G>A (n.1880-1G>A)
c.1346-1G>A (n.1346-1G>A)
18g.31541192G>CCA402139003DSG2c.1880-1G>C (n.1880-1G>C)
c.1346-1G>C (n.1346-1G>C)
18g.31541192G=CA2293864082DSG2c.1880-1G= (n.1880-1G=)
c.1346-1G= (n.1346-1G=)
18g.31541192G>TCA402139004DSG2c.1880-1G>T (n.1880-1G>T)
c.1346-1G>T (n.1346-1G>T)
 dbSNP gnomAD v3 gnomAD v4
18g.31541193T>ACA402139007DSG2c.1880T>A (p.Leu627Ter)
c.1346T>A (p.Leu449Ter)
18g.31541193T>CCA044158DSG2c.1880T>C (p.Leu627Ser)
c.1346T>C (p.Leu449Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541193T>GCA402139012DSG2c.1880T>G (p.Leu627Trp)
c.1346T>G (p.Leu449Trp)
18g.31541193T=CA2293864083DSG2c.1880T= (p.Leu627=)
c.1346T= (p.Leu449=)
18g.31541194G>ACA044173DSG2c.1881G>A (p.Leu627=)
c.1347G>A (p.Leu449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541194G>CCA402139018DSG2c.1881G>C (p.Leu627Phe)
c.1347G>C (p.Leu449Phe)
 gnomAD v4
18g.31541194G=CA2293864084DSG2c.1881G= (p.Leu627=)
c.1347G= (p.Leu449=)
18g.31541194G>TCA402139015DSG2c.1881G>T (p.Leu627Phe)
c.1347G>T (p.Leu449Phe)
18g.31541195G>ACA402139027DSG2c.1882G>A (p.Val628Ile)
c.1348G>A (p.Val450Ile)
 ClinVar dbSNP gnomAD v4
18g.31541195G>CCA402139024DSG2c.1882G>C (p.Val628Leu)
c.1348G>C (p.Val450Leu)
18g.31541195G=CA2293864085DSG2c.1882G= (p.Val628=)
c.1348G= (p.Val450=)
18g.31541195G>TCA402139030DSG2c.1882G>T (p.Val628Leu)
c.1348G>T (p.Val450Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31541196T>ACA402139034DSG2c.1883T>A (p.Val628Glu)
c.1349T>A (p.Val450Glu)
18g.31541196T>CCA402139036DSG2c.1883T>C (p.Val628Ala)
c.1349T>C (p.Val450Ala)
18g.31541196T>GCA402139035DSG2c.1883T>G (p.Val628Gly)
c.1349T>G (p.Val450Gly)
18g.31541199_31541207delCA2641406998DSG2c.1886_1894del (p.Pro629_Leu631del)
c.1352_1360del (p.Pro451_Leu453del)
 gnomAD v4
18g.31541197A>CCA503597111DSG2c.1884A>C (p.Val628=)
c.1350A>C (p.Val450=)
18g.31541197A>GCA503597112DSG2c.1884A>G (p.Val628=)
c.1350A>G (p.Val450=)
18g.31541197A>TCA503597113DSG2c.1884A>T (p.Val628=)
c.1350A>T (p.Val450=)
18g.31541198C>ACA402139040DSG2c.1885C>A (p.Pro629Thr)
c.1351C>A (p.Pro451Thr)
18g.31541198C=CA2293864086DSG2c.1885C= (p.Pro629=)
c.1351C= (p.Pro451=)
18g.31541198C>GCA402139042DSG2c.1885C>G (p.Pro629Ala)
c.1351C>G (p.Pro451Ala)
18g.31541198C>TCA021609DSG2c.1885C>T (p.Pro629Ser)
c.1351C>T (p.Pro451Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541199C>ACA402139054DSG2c.1886C>A (p.Pro629Gln)
c.1352C>A (p.Pro451Gln)
18g.31541199C>GCA402139057DSG2c.1886C>G (p.Pro629Arg)
c.1352C>G (p.Pro451Arg)
18g.31541199C>TCA402139060DSG2c.1886C>T (p.Pro629Leu)
c.1352C>T (p.Pro451Leu)
18g.31541200A>CCA503597114DSG2c.1887A>C (p.Pro629=)
c.1353A>C (p.Pro451=)
 gnomAD v4
18g.31541200A>GCA503597115DSG2c.1887A>G (p.Pro629=)
c.1353A>G (p.Pro451=)
 ClinVar gnomAD v4 COSMIC
18g.31541200A>TCA503597116DSG2c.1887A>T (p.Pro629=)
c.1353A>T (p.Pro451=)
18g.31541201C>ACA402139061DSG2c.1888C>A (p.Leu630Ile)
c.1354C>A (p.Leu452Ile)
18g.31541201C=CA2293864087DSG2c.1888C= (p.Leu630=)
c.1354C= (p.Leu452=)
18g.31541201C>GCA402139065DSG2c.1888C>G (p.Leu630Val)
c.1354C>G (p.Leu452Val)
18g.31541201C>TCA402139068DSG2c.1888C>T (p.Leu630Phe)
c.1354C>T (p.Leu452Phe)
 ClinVar dbSNP COSMIC
18g.31541201_31541202delinsCTCA2293864088DSG2c.1888_1889delinsCT (p.Leu630=)
c.1354_1355delinsCT (p.Leu452=)
18g.31541202T>ACA402139072DSG2c.1889T>A (p.Leu630His)
c.1355T>A (p.Leu452His)
18g.31541202T>CCA402139075DSG2c.1889T>C (p.Leu630Pro)
c.1355T>C (p.Leu452Pro)
18g.31541202T>GCA402139083DSG2c.1889T>G (p.Leu630Arg)
c.1355T>G (p.Leu452Arg)
18g.31541205delCA629148992DSG2c.1892del (p.Leu631TyrfsTer3)
c.1358del (p.Leu453TyrfsTer3)
 dbSNP gnomAD v2
18g.31541203T>ACA503597118DSG2c.1890T>A (p.Leu630=)
c.1356T>A (p.Leu452=)
18g.31541203T>CCA503597119DSG2c.1890T>C (p.Leu630=)
c.1356T>C (p.Leu452=)
18g.31541203T>GCA503597117DSG2c.1890T>G (p.Leu630=)
c.1356T>G (p.Leu452=)
 dbSNP
18g.31541203T=CA2293864089DSG2c.1890T= (p.Leu630=)
c.1356T= (p.Leu452=)
18g.31541204T>ACA402139087DSG2c.1891T>A (p.Leu631Ile)
c.1357T>A (p.Leu453Ile)
18g.31541204T>CCA503597120DSG2c.1891T>C (p.Leu631=)
c.1357T>C (p.Leu453=)
18g.31541204T>GCA402139089DSG2c.1891T>G (p.Leu631Val)
c.1357T>G (p.Leu453Val)
18g.31541205T>ACA402139092DSG2c.1892T>A (p.Leu631Ter)
c.1358T>A (p.Leu453Ter)
18g.31541205T>CCA402139095DSG2c.1892T>C (p.Leu631Ser)
c.1358T>C (p.Leu453Ser)
18g.31541205T>GCA402139097DSG2c.1892T>G (p.Leu631Ter)
c.1358T>G (p.Leu453Ter)
18g.31541206A>CCA402139100DSG2c.1893A>C (p.Leu631Phe)
c.1359A>C (p.Leu453Phe)
18g.31541206A>GCA503597121DSG2c.1893A>G (p.Leu631=)
c.1359A>G (p.Leu453=)
18g.31541206A>TCA402139103DSG2c.1893A>T (p.Leu631Phe)
c.1359A>T (p.Leu453Phe)
18g.31541207C>ACA044190DSG2c.1894C>A (p.Leu632Met)
c.1360C>A (p.Leu454Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541207C=CA2293864090DSG2c.1894C= (p.Leu632=)
c.1360C= (p.Leu454=)
18g.31541207C>GCA402139104DSG2c.1894C>G (p.Leu632Val)
c.1360C>G (p.Leu454Val)
 gnomAD v4
18g.31541207C>TCA503597122DSG2c.1894C>T (p.Leu632=)
c.1360C>T (p.Leu454=)
18g.31541208T>ACA402139106DSG2c.1895T>A (p.Leu632Gln)
c.1361T>A (p.Leu454Gln)
18g.31541208T>CCA402139109DSG2c.1895T>C (p.Leu632Pro)
c.1361T>C (p.Leu454Pro)
 gnomAD v4
18g.31541208T>GCA402139111DSG2c.1895T>G (p.Leu632Arg)
c.1361T>G (p.Leu454Arg)
18g.31541209G>ACA503597125DSG2c.1896G>A (p.Leu632=)
c.1362G>A (p.Leu454=)
18g.31541209G>CCA503597123DSG2c.1896G>C (p.Leu632=)
c.1362G>C (p.Leu454=)
18g.31541209G>TCA503597124DSG2c.1896G>T (p.Leu632=)
c.1362G>T (p.Leu454=)
18g.31541210C>ACA402139113DSG2c.1897C>A (p.Leu633Met)
c.1363C>A (p.Leu455Met)
18g.31541210C>GCA402139116DSG2c.1897C>G (p.Leu633Val)
c.1363C>G (p.Leu455Val)
18g.31541210C>TCA503597126DSG2c.1897C>T (p.Leu633=)
c.1363C>T (p.Leu455=)
18g.31541211T>ACA402139125DSG2c.1898T>A (p.Leu633Gln)
c.1364T>A (p.Leu455Gln)
18g.31541211T>CCA402139137DSG2c.1898T>C (p.Leu633Pro)
c.1364T>C (p.Leu455Pro)
18g.31541211T>GCA402139133DSG2c.1898T>G (p.Leu633Arg)
c.1364T>G (p.Leu455Arg)
18g.31541212G>ACA297699699DSG2c.1899G>A (p.Leu633=)
c.1365G>A (p.Leu455=)
 dbSNP
18g.31541212G>CCA503597127DSG2c.1899G>C (p.Leu633=)
c.1365G>C (p.Leu455=)
18g.31541212G=CA2293864091DSG2c.1899G= (p.Leu633=)
c.1365G= (p.Leu455=)
18g.31541212G>TCA503597128DSG2c.1899G>T (p.Leu633=)
c.1365G>T (p.Leu455=)
18g.31541213A>CCA402139145DSG2c.1900A>C (p.Met634Leu)
c.1366A>C (p.Met456Leu)
 ClinVar
18g.31541213A>GCA402139146DSG2c.1900A>G (p.Met634Val)
c.1366A>G (p.Met456Val)
 COSMIC
18g.31541213A>TCA402139152DSG2c.1900A>T (p.Met634Leu)
c.1366A>T (p.Met456Leu)
18g.31541214T>ACA402139153DSG2c.1901T>A (p.Met634Lys)
c.1367T>A (p.Met456Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.31541214T>CCA402139154DSG2c.1901T>C (p.Met634Thr)
c.1367T>C (p.Met456Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.31541214T>GCA402139155DSG2c.1901T>G (p.Met634Arg)
c.1367T>G (p.Met456Arg)
18g.31541214T=CA2293864092DSG2c.1901T= (p.Met634=)
c.1367T= (p.Met456=)
18g.31541215G>ACA402139156DSG2c.1902G>A (p.Met634Ile)
c.1368G>A (p.Met456Ile)
18g.31541215G>CCA402139158DSG2c.1902G>C (p.Met634Ile)
c.1368G>C (p.Met456Ile)
18g.31541215G>TCA402139160DSG2c.1902G>T (p.Met634Ile)
c.1368G>T (p.Met456Ile)
18g.31541216T>ACA402139166DSG2c.1903T>A (p.Cys635Ser)
c.1369T>A (p.Cys457Ser)
18g.31541216T>CCA297699701DSG2c.1903T>C (p.Cys635Arg)
c.1369T>C (p.Cys457Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31541216T>GCA402139175DSG2c.1903T>G (p.Cys635Gly)
c.1369T>G (p.Cys457Gly)
 gnomAD v4
18g.31541216T=CA2293864093DSG2c.1903T= (p.Cys635=)
c.1369T= (p.Cys457=)
18g.31541217G>ACA044205DSG2c.1904G>A (p.Cys635Tyr)
c.1370G>A (p.Cys457Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541217G>CCA402139193DSG2c.1904G>C (p.Cys635Ser)
c.1370G>C (p.Cys457Ser)
18g.31541217G=CA2293864094DSG2c.1904G= (p.Cys635=)
c.1370G= (p.Cys457=)
18g.31541217G>TCA402139189DSG2c.1904G>T (p.Cys635Phe)
c.1370G>T (p.Cys457Phe)
18g.31541218C>ACA402139210DSG2c.1905C>A (p.Cys635Ter)
c.1371C>A (p.Cys457Ter)
18g.31541218C=CA2293864095DSG2c.1905C= (p.Cys635=)
c.1371C= (p.Cys457=)
18g.31541218C>GCA402139212DSG2c.1905C>G (p.Cys635Trp)
c.1371C>G (p.Cys457Trp)
18g.31541218C>TCA503597129DSG2c.1905C>T (p.Cys635=)
c.1371C>T (p.Cys457=)
 dbSNP gnomAD v2
18g.31541219C>ACA402139213DSG2c.1906C>A (p.His636Asn)
c.1372C>A (p.His458Asn)
18g.31541219C=CA2293864096DSG2c.1906C= (p.His636=)
c.1372C= (p.His458=)
18g.31541219C>GCA402139214DSG2c.1906C>G (p.His636Asp)
c.1372C>G (p.His458Asp)
18g.31541219C>TCA402139215DSG2c.1906C>T (p.His636Tyr)
c.1372C>T (p.His458Tyr)
 dbSNP
18g.31541220A=CA2293864097DSG2c.1907A= (p.His636=)
c.1373A= (p.His458=)
18g.31541220A>CCA402139219DSG2c.1907A>C (p.His636Pro)
c.1373A>C (p.His458Pro)
18g.31541220A>GCA402139220DSG2c.1907A>G (p.His636Arg)
c.1373A>G (p.His458Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.31541220A>TCA402139221DSG2c.1907A>T (p.His636Leu)
c.1373A>T (p.His458Leu)
18g.31541221T>ACA402139224DSG2c.1908T>A (p.His636Gln)
c.1374T>A (p.His458Gln)
18g.31541221T>CCA503597130DSG2c.1908T>C (p.His636=)
c.1374T>C (p.His458=)
18g.31541221T>GCA402139225DSG2c.1908T>G (p.His636Gln)
c.1374T>G (p.His458Gln)
18g.31541222T>ACA402139227DSG2c.1909T>A (p.Cys637Ser)
c.1375T>A (p.Cys459Ser)
18g.31541222T>CCA402139230DSG2c.1909T>C (p.Cys637Arg)
c.1375T>C (p.Cys459Arg)
18g.31541222T>GCA402139226DSG2c.1909T>G (p.Cys637Gly)
c.1375T>G (p.Cys459Gly)
18g.31541223G>ACA044221DSG2c.1910G>A (p.Cys637Tyr)
c.1376G>A (p.Cys459Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541223G>CCA402139233DSG2c.1910G>C (p.Cys637Ser)
c.1376G>C (p.Cys459Ser)
18g.31541223G=CA2293864098DSG2c.1910G= (p.Cys637=)
c.1376G= (p.Cys459=)
18g.31541223G>TCA402139235DSG2c.1910G>T (p.Cys637Phe)
c.1376G>T (p.Cys459Phe)
18g.31541224C>ACA402139239DSG2c.1911C>A (p.Cys637Ter)
c.1377C>A (p.Cys459Ter)
18g.31541224C=CA2293864099DSG2c.1911C= (p.Cys637=)
c.1377C= (p.Cys459=)
18g.31541224C>GCA402139248DSG2c.1911C>G (p.Cys637Trp)
c.1377C>G (p.Cys459Trp)
18g.31541224C>TCA021616DSG2c.1911C>T (p.Cys637=)
c.1377C>T (p.Cys459=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31541225G>ACA021624DSG2c.1912G>A (p.Gly638Arg)
c.1378G>A (p.Gly460Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31541225G>CCA402139259DSG2c.1912G>C (p.Gly638Arg)
c.1378G>C (p.Gly460Arg)
18g.31541225G=CA2293864100DSG2c.1912G= (p.Gly638=)
c.1378G= (p.Gly460=)
18g.31541225G>TCA402139263DSG2c.1912G>T (p.Gly638Ter)
c.1378G>T (p.Gly460Ter)
18g.31541226G>ACA044254DSG2c.1913G>A (p.Gly638Glu)
c.1379G>A (p.Gly460Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541226G>CCA402139264DSG2c.1913G>C (p.Gly638Ala)
c.1379G>C (p.Gly460Ala)
18g.31541226G=CA2293864101DSG2c.1913G= (p.Gly638=)
c.1379G= (p.Gly460=)
18g.31541226G>TCA402139265DSG2c.1913G>T (p.Gly638Val)
c.1379G>T (p.Gly460Val)
18g.31541227A=CA2293864102DSG2c.1914A= (p.Gly638=)
c.1380A= (p.Gly460=)
18g.31541227A>CCA503597131DSG2c.1914A>C (p.Gly638=)
c.1380A>C (p.Gly460=)
18g.31541227A>GCA021631DSG2c.1914A>G (p.Gly638=)
c.1380A>G (p.Gly460=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541227A>TCA503597132DSG2c.1914A>T (p.Gly638=)
c.1380A>T (p.Gly460=)
18g.31541229delCA2697555371DSG2c.1916del (p.Lys639ArgfsTer13)
c.1382del (p.Lys461ArgfsTer13)
 ClinVar
18g.31541228A>CCA402139273DSG2c.1915A>C (p.Lys639Gln)
c.1381A>C (p.Lys461Gln)
 gnomAD v4
18g.31541228A>GCA402139277DSG2c.1915A>G (p.Lys639Glu)
c.1381A>G (p.Lys461Glu)
18g.31541228A>TCA402139269DSG2c.1915A>T (p.Lys639Ter)
c.1381A>T (p.Lys461Ter)
18g.31541229A=CA2293864103DSG2c.1916A= (p.Lys639=)
c.1382A= (p.Lys461=)
18g.31541229A>CCA402139282DSG2c.1916A>C (p.Lys639Thr)
c.1382A>C (p.Lys461Thr)
18g.31541229A>GCA044273DSG2c.1916A>G (p.Lys639Arg)
c.1382A>G (p.Lys461Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541229A>TCA402139287DSG2c.1916A>T (p.Lys639Met)
c.1382A>T (p.Lys461Met)
18g.31541230G>ACA503597133DSG2c.1917G>A (p.Lys639=)
c.1383G>A (p.Lys461=)
18g.31541230G>CCA402139291DSG2c.1917G>C (p.Lys639Asn)
c.1383G>C (p.Lys461Asn)
18g.31541230G>TCA402139292DSG2c.1917G>T (p.Lys639Asn)
c.1383G>T (p.Lys461Asn)
 gnomAD v4
18g.31541232delCA2641406999DSG2c.1919del (p.Gly640AlafsTer12)
c.1385del (p.Gly462AlafsTer12)
 gnomAD v4
18g.31541231G>ACA402139301DSG2c.1918G>A (p.Gly640Ser)
c.1384G>A (p.Gly462Ser)
 COSMIC
18g.31541231G>CCA402139295DSG2c.1918G>C (p.Gly640Arg)
c.1384G>C (p.Gly462Arg)
18g.31541231G>TCA402139299DSG2c.1918G>T (p.Gly640Cys)
c.1384G>T (p.Gly462Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.31541231_31541245delinsGGCGCCAAAGGCTTTCA2293864104DSG2c.1918_1932delinsGGCGCCAAAGGCTTT (p.Gly640=)
c.1384_1398delinsGGCGCCAAAGGCTTT (p.Gly462=)
18g.31541232G>ACA402139306DSG2c.1919G>A (p.Gly640Asp)
c.1385G>A (p.Gly462Asp)
 dbSNP
18g.31541232G>CCA402139308DSG2c.1919G>C (p.Gly640Ala)
c.1385G>C (p.Gly462Ala)
18g.31541232G=CA2293864105DSG2c.1919G= (p.Gly640=)
c.1385G= (p.Gly462=)
18g.31541232G>TCA402139317DSG2c.1919G>T (p.Gly640Val)
c.1385G>T (p.Gly462Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31541232_31541245delCA044289DSG2c.1919_1932del (p.Gly640AspfsTer15)
c.1385_1398del (p.Gly462AspfsTer15)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541233C>ACA503597134DSG2c.1920C>A (p.Gly640=)
c.1386C>A (p.Gly462=)
18g.31541233C=CA2293864106DSG2c.1920C= (p.Gly640=)
c.1386C= (p.Gly462=)
18g.31541233C>GCA503597135DSG2c.1920C>G (p.Gly640=)
c.1386C>G (p.Gly462=)
18g.31541233C>TCA044298DSG2c.1920C>T (p.Gly640=)
c.1386C>T (p.Gly462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31541234G>ACA402139357DSG2c.1921G>A (p.Ala641Thr)
c.1387G>A (p.Ala463Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31541234G>CCA402139352DSG2c.1921G>C (p.Ala641Pro)
c.1387G>C (p.Ala463Pro)
18g.31541234G=CA2293864107DSG2c.1921G= (p.Ala641=)
c.1387G= (p.Ala463=)
18g.31541234G>TCA402139346DSG2c.1921G>T (p.Ala641Ser)
c.1387G>T (p.Ala463Ser)
18g.31541235C>ACA402139362DSG2c.1922C>A (p.Ala641Asp)
c.1388C>A (p.Ala463Asp)
18g.31541235C>GCA402139364DSG2c.1922C>G (p.Ala641Gly)
c.1388C>G (p.Ala463Gly)
18g.31541235C>TCA402139363DSG2c.1922C>T (p.Ala641Val)
c.1388C>T (p.Ala463Val)
18g.31541236C>ACA503597136DSG2c.1923C>A (p.Ala641=)
c.1389C>A (p.Ala463=)
18g.31541236C>GCA503597137DSG2c.1923C>G (p.Ala641=)
c.1389C>G (p.Ala463=)
18g.31541236C>TCA503597138DSG2c.1923C>T (p.Ala641=)
c.1389C>T (p.Ala463=)
18g.31541237A>CCA402139365DSG2c.1924A>C (p.Lys642Gln)
c.1390A>C (p.Lys464Gln)
18g.31541237A>GCA402139368DSG2c.1924A>G (p.Lys642Glu)
c.1390A>G (p.Lys464Glu)
 dbSNP gnomAD v4
18g.31541237A>TCA402139372DSG2c.1924A>T (p.Lys642Ter)
c.1390A>T (p.Lys464Ter)
18g.31541238A>CCA402139376DSG2c.1925A>C (p.Lys642Thr)
c.1391A>C (p.Lys464Thr)
18g.31541238A>GCA402139377DSG2c.1925A>G (p.Lys642Arg)
c.1391A>G (p.Lys464Arg)
18g.31541238A>TCA402139378DSG2c.1925A>T (p.Lys642Ile)
c.1391A>T (p.Lys464Ile)
18g.31541239A>CCA402139380DSG2c.1926A>C (p.Lys642Asn)
c.1392A>C (p.Lys464Asn)
18g.31541239A>GCA503597139DSG2c.1926A>G (p.Lys642=)
c.1392A>G (p.Lys464=)
18g.31541239A>TCA402139383DSG2c.1926A>T (p.Lys642Asn)
c.1392A>T (p.Lys464Asn)
18g.31541240G>ACA402139389DSG2c.1927G>A (p.Gly643Ser)
c.1393G>A (p.Gly465Ser)
18g.31541240G>CCA402139395DSG2c.1927G>C (p.Gly643Arg)
c.1393G>C (p.Gly465Arg)
18g.31541240G>TCA402139397DSG2c.1927G>T (p.Gly643Cys)
c.1393G>T (p.Gly465Cys)
 gnomAD v4
18g.31541241G>ACA402139415DSG2c.1928G>A (p.Gly643Asp)
c.1394G>A (p.Gly465Asp)
18g.31541241G>CCA402139402DSG2c.1928G>C (p.Gly643Ala)
c.1394G>C (p.Gly465Ala)
18g.31541241G=CA2293864108DSG2c.1928G= (p.Gly643=)
c.1394G= (p.Gly465=)
18g.31541241G>TCA044310DSG2c.1928G>T (p.Gly643Val)
c.1394G>T (p.Gly465Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541242C>ACA503597140DSG2c.1929C>A (p.Gly643=)
c.1395C>A (p.Gly465=)
 ClinVar
18g.31541242C>GCA503597141DSG2c.1929C>G (p.Gly643=)
c.1395C>G (p.Gly465=)
 gnomAD v4
18g.31541242C>TCA503597142DSG2c.1929C>T (p.Gly643=)
c.1395C>T (p.Gly465=)
18g.31541242_31541243delinsCTCA2293864109DSG2c.1929_1930delinsCT (p.Gly643=)
c.1395_1396delinsCT (p.Gly465=)
18g.31541243T>ACA402139420DSG2c.1930T>A (p.Phe644Ile)
c.1396T>A (p.Phe466Ile)
18g.31541243T>CCA402139423DSG2c.1930T>C (p.Phe644Leu)
c.1396T>C (p.Phe466Leu)
18g.31541243T>GCA402139427DSG2c.1930T>G (p.Phe644Val)
c.1396T>G (p.Phe466Val)
18g.31541245dupCA2839274299DSG2c.1932dup (p.Thr645TyrfsTer15)
c.1398dup (p.Thr467TyrfsTer15)
18g.31541245delCA044321DSG2c.1932del (p.Phe644LeufsTer8)
c.1398del (p.Phe466LeufsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541244T>ACA402139428DSG2c.1931T>A (p.Phe644Tyr)
c.1397T>A (p.Phe466Tyr)
18g.31541244T>CCA402139429DSG2c.1931T>C (p.Phe644Ser)
c.1397T>C (p.Phe466Ser)
18g.31541244T>GCA402139444DSG2c.1931T>G (p.Phe644Cys)
c.1397T>G (p.Phe466Cys)
18g.31541245T>ACA402139448DSG2c.1932T>A (p.Phe644Leu)
c.1398T>A (p.Phe466Leu)
18g.31541245T>CCA503597143DSG2c.1932T>C (p.Phe644=)
c.1398T>C (p.Phe466=)
 ClinVar dbSNP gnomAD v4
18g.31541245T>GCA402139452DSG2c.1932T>G (p.Phe644Leu)
c.1398T>G (p.Phe466Leu)
18g.31541245T=CA2293864110DSG2c.1932T= (p.Phe644=)
c.1398T= (p.Phe466=)
18g.31541246A=CA2293864111DSG2c.1933A= (p.Thr645=)
c.1399A= (p.Thr467=)
18g.31541246A>CCA402139456DSG2c.1933A>C (p.Thr645Pro)
c.1399A>C (p.Thr467Pro)
18g.31541246A>GCA402139463DSG2c.1933A>G (p.Thr645Ala)
c.1399A>G (p.Thr467Ala)
 dbSNP gnomAD v2
18g.31541246A>TCA402139470DSG2c.1933A>T (p.Thr645Ser)
c.1399A>T (p.Thr467Ser)
 ClinVar dbSNP
18g.31541246_31541247delinsACCA2293864112DSG2c.1933_1934delinsAC (p.Thr645=)
c.1399_1400delinsAC (p.Thr467=)
18g.31541247C>ACA044341DSG2c.1934C>A (p.Thr645Asn)
c.1400C>A (p.Thr467Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541247C=CA2293864114DSG2c.1934C= (p.Thr645=)
c.1400C= (p.Thr467=)
18g.31541247C>GCA402139476DSG2c.1934C>G (p.Thr645Ser)
c.1400C>G (p.Thr467Ser)
18g.31541247C>TCA402139473DSG2c.1934C>T (p.Thr645Ile)
c.1400C>T (p.Thr467Ile)
 dbSNP
18g.31541251dupCA2741575926DSG2c.1938dup (p.Ile647HisfsTer13)
c.1404dup (p.Ile469HisfsTer13)
18g.31541251delCA2293864113DSG2c.1938del (p.Ile647TyrfsTer5)
c.1404del (p.Ile469TyrfsTer5)
18g.31541248C>ACA503597146DSG2c.1935C>A (p.Thr645=)
c.1401C>A (p.Thr467=)
18g.31541248C>GCA503597144DSG2c.1935C>G (p.Thr645=)
c.1401C>G (p.Thr467=)
18g.31541248C>TCA503597145DSG2c.1935C>T (p.Thr645=)
c.1401C>T (p.Thr467=)
18g.31541249C>ACA402139482DSG2c.1936C>A (p.Pro646Thr)
c.1402C>A (p.Pro468Thr)
18g.31541249C>GCA402139494DSG2c.1936C>G (p.Pro646Ala)
c.1402C>G (p.Pro468Ala)
18g.31541249C>TCA402139485DSG2c.1936C>T (p.Pro646Ser)
c.1402C>T (p.Pro468Ser)
 gnomAD v4
18g.31541250C>ACA402139499DSG2c.1937C>A (p.Pro646His)
c.1403C>A (p.Pro468His)
18g.31541250C>GCA402139525DSG2c.1937C>G (p.Pro646Arg)
c.1403C>G (p.Pro468Arg)
18g.31541250C>TCA402139514DSG2c.1937C>T (p.Pro646Leu)
c.1403C>T (p.Pro468Leu)
18g.31541251C>ACA503597147DSG2c.1938C>A (p.Pro646=)
c.1404C>A (p.Pro468=)
18g.31541251C>GCA503597149DSG2c.1938C>G (p.Pro646=)
c.1404C>G (p.Pro468=)
18g.31541251C>TCA503597148DSG2c.1938C>T (p.Pro646=)
c.1404C>T (p.Pro468=)
 ClinVar
18g.31541252A>CCA402139526DSG2c.1939A>C (p.Ile647Leu)
c.1405A>C (p.Ile469Leu)
18g.31541252A>GCA402139528DSG2c.1939A>G (p.Ile647Val)
c.1405A>G (p.Ile469Val)
18g.31541252A>TCA402139531DSG2c.1939A>T (p.Ile647Leu)
c.1405A>T (p.Ile469Leu)
18g.31541253T>ACA402139539DSG2c.1940T>A (p.Ile647Lys)
c.1406T>A (p.Ile469Lys)
18g.31541253T>CCA402139542DSG2c.1940T>C (p.Ile647Thr)
c.1406T>C (p.Ile469Thr)
18g.31541253T>GCA402139544DSG2c.1940T>G (p.Ile647Arg)
c.1406T>G (p.Ile469Arg)
18g.31541254A>CCA503597150DSG2c.1941A>C (p.Ile647=)
c.1407A>C (p.Ile469=)
18g.31541254A>GCA402139553DSG2c.1941A>G (p.Ile647Met)
c.1407A>G (p.Ile469Met)
18g.31541254A>TCA503597151DSG2c.1941A>T (p.Ile647=)
c.1407A>T (p.Ile469=)
18g.31541255C>ACA402139557DSG2c.1942C>A (p.Pro648Thr)
c.1408C>A (p.Pro470Thr)
18g.31541255C=CA2293864115DSG2c.1942C= (p.Pro648=)
c.1408C= (p.Pro470=)
18g.31541255C>GCA402139560DSG2c.1942C>G (p.Pro648Ala)
c.1408C>G (p.Pro470Ala)
 ClinVar dbSNP
18g.31541255C>TCA402139562DSG2c.1942C>T (p.Pro648Ser)
c.1408C>T (p.Pro470Ser)
18g.31541256C>ACA402139569DSG2c.1943C>A (p.Pro648His)
c.1409C>A (p.Pro470His)
18g.31541256C>GCA402139567DSG2c.1943C>G (p.Pro648Arg)
c.1409C>G (p.Pro470Arg)
18g.31541256C>TCA402139564DSG2c.1943C>T (p.Pro648Leu)
c.1409C>T (p.Pro470Leu)
18g.31541257T>ACA503597152DSG2c.1944T>A (p.Pro648=)
c.1410T>A (p.Pro470=)
18g.31541257T>CCA503597153DSG2c.1944T>C (p.Pro648=)
c.1410T>C (p.Pro470=)
18g.31541257T>GCA503597154DSG2c.1944T>G (p.Pro648=)
c.1410T>G (p.Pro470=)
18g.31541258G>ACA021637DSG2c.1945G>A (p.Gly649Ser)
c.1411G>A (p.Gly471Ser)
 ClinVar dbSNP
18g.31541258G>CCA402139573DSG2c.1945G>C (p.Gly649Arg)
c.1411G>C (p.Gly471Arg)
18g.31541258G=CA2293864116DSG2c.1945G= (p.Gly649=)
c.1411G= (p.Gly471=)
18g.31541258G>TCA402139578DSG2c.1945G>T (p.Gly649Cys)
c.1411G>T (p.Gly471Cys)
18g.31541259G>ACA297699720DSG2c.1946G>A (p.Gly649Asp)
c.1412G>A (p.Gly471Asp)
 dbSNP gnomAD v4
18g.31541259G>CCA402139585DSG2c.1946G>C (p.Gly649Ala)
c.1412G>C (p.Gly471Ala)
18g.31541259G=CA2293864117DSG2c.1946G= (p.Gly649=)
c.1412G= (p.Gly471=)
18g.31541259G>TCA044352DSG2c.1946G>T (p.Gly649Val)
c.1412G>T (p.Gly471Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541260C>ACA503597155DSG2c.1947C>A (p.Gly649=)
c.1413C>A (p.Gly471=)
18g.31541260C=CA2293864118DSG2c.1947C= (p.Gly649=)
c.1413C= (p.Gly471=)
18g.31541260C>GCA503597156DSG2c.1947C>G (p.Gly649=)
c.1413C>G (p.Gly471=)
18g.31541260C>TCA503597157DSG2c.1947C>T (p.Gly649=)
c.1413C>T (p.Gly471=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31541261A=CA2293864119DSG2c.1948A= (p.Thr650=)
c.1414A= (p.Thr472=)
18g.31541261A>CCA402139591DSG2c.1948A>C (p.Thr650Pro)
c.1414A>C (p.Thr472Pro)
18g.31541261A>GCA402139593DSG2c.1948A>G (p.Thr650Ala)
c.1414A>G (p.Thr472Ala)
 dbSNP gnomAD v4
18g.31541261A>TCA402139597DSG2c.1948A>T (p.Thr650Ser)
c.1414A>T (p.Thr472Ser)
 ClinVar gnomAD v4
18g.31541262C>ACA402139601DSG2c.1949C>A (p.Thr650Asn)
c.1415C>A (p.Thr472Asn)
18g.31541262C=CA2293864120DSG2c.1949C= (p.Thr650=)
c.1415C= (p.Thr472=)
18g.31541262C>GCA402139604DSG2c.1949C>G (p.Thr650Ser)
c.1415C>G (p.Thr472Ser)
18g.31541262C>TCA044367DSG2c.1949C>T (p.Thr650Ile)
c.1415C>T (p.Thr472Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31541263C>ACA503597158DSG2c.1950C>A (p.Thr650=)
c.1416C>A (p.Thr472=)
18g.31541263C>GCA503597159DSG2c.1950C>G (p.Thr650=)
c.1416C>G (p.Thr472=)
18g.31541263C>TCA503597160DSG2c.1950C>T (p.Thr650=)
c.1416C>T (p.Thr472=)
18g.31541264A>CCA402139611DSG2c.1951A>C (p.Ile651Leu)
c.1417A>C (p.Ile473Leu)
18g.31541264A>GCA402139617DSG2c.1951A>G (p.Ile651Val)
c.1417A>G (p.Ile473Val)
 gnomAD v4
18g.31541264A>TCA402139608DSG2c.1951A>T (p.Ile651Leu)
c.1417A>T (p.Ile473Leu)
18g.31541265T>ACA402139621DSG2c.1952T>A (p.Ile651Lys)
c.1418T>A (p.Ile473Lys)
18g.31541265T>CCA044381DSG2c.1952T>C (p.Ile651Thr)
c.1418T>C (p.Ile473Thr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
18g.31541265T>GCA402139629DSG2c.1952T>G (p.Ile651Arg)
c.1418T>G (p.Ile473Arg)
 ClinVar dbSNP
18g.31541265T=CA2293864121DSG2c.1952T= (p.Ile651=)
c.1418T= (p.Ile473=)
18g.31541266A>CCA503597161DSG2c.1953A>C (p.Ile651=)
c.1419A>C (p.Ile473=)
18g.31541266A>GCA402139633DSG2c.1953A>G (p.Ile651Met)
c.1419A>G (p.Ile473Met)
 gnomAD v4
18g.31541266A>TCA503597162DSG2c.1953A>T (p.Ile651=)
c.1419A>T (p.Ile473=)
18g.31541267G>ACA402139638DSG2c.1954G>A (p.Glu652Lys)
c.1420G>A (p.Glu474Lys)
18g.31541267G>CCA044390DSG2c.1954G>C (p.Glu652Gln)
c.1420G>C (p.Glu474Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31541267G=CA2293864122DSG2c.1954G= (p.Glu652=)
c.1420G= (p.Glu474=)
18g.31541267G>TCA402139644DSG2c.1954G>T (p.Glu652Ter)
c.1420G>T (p.Glu474Ter)
18g.31541268A>CCA402139647DSG2c.1955A>C (p.Glu652Ala)
c.1421A>C (p.Glu474Ala)
18g.31541268A>GCA402139648DSG2c.1955A>G (p.Glu652Gly)
c.1421A>G (p.Glu474Gly)
18g.31541268A>TCA402139649DSG2c.1955A>T (p.Glu652Val)
c.1421A>T (p.Glu474Val)
18g.31541269G>ACA297699725DSG2c.1956G>A (p.Glu652=)
c.1422G>A (p.Glu474=)
 dbSNP gnomAD v4
18g.31541269G>CCA402139651DSG2c.1956G>C (p.Glu652Asp)
c.1422G>C (p.Glu474Asp)
18g.31541269G=CA2293864123DSG2c.1956G= (p.Glu652=)
c.1422G= (p.Glu474=)
18g.31541269G>TCA402139652DSG2c.1956G>T (p.Glu652Asp)
c.1422G>T (p.Glu474Asp)
18g.31541270A=CA2293864124DSG2c.1957A= (p.Met653=)
c.1423A= (p.Met475=)
18g.31541270A>CCA402139655DSG2c.1957A>C (p.Met653Leu)
c.1423A>C (p.Met475Leu)
18g.31541270A>GCA402139654DSG2c.1957A>G (p.Met653Val)
c.1423A>G (p.Met475Val)
18g.31541270A>TCA402139653DSG2c.1957A>T (p.Met653Leu)
c.1423A>T (p.Met475Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31541271T>ACA402139660DSG2c.1958T>A (p.Met653Lys)
c.1424T>A (p.Met475Lys)
18g.31541271T>CCA402139664DSG2c.1958T>C (p.Met653Thr)
c.1424T>C (p.Met475Thr)
18g.31541271T>GCA402139667DSG2c.1958T>G (p.Met653Arg)
c.1424T>G (p.Met475Arg)
18g.31541272G>ACA021644DSG2c.1959G>A (p.Met653Ile)
c.1425G>A (p.Met475Ile)
 ClinVar dbSNP
18g.31541272G>CCA402139676DSG2c.1959G>C (p.Met653Ile)
c.1425G>C (p.Met475Ile)
18g.31541272G=CA2293864125DSG2c.1959G= (p.Met653=)
c.1425G= (p.Met475=)
18g.31541272G>TCA402139680DSG2c.1959G>T (p.Met653Ile)
c.1425G>T (p.Met475Ile)

Number of alleles fetched