Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219211009T>ACA350684304ABCB6,ATG9Ac.2068A>T (p.Thr690Ser)
c.1930A>T (p.Thr644Ser)
c.1611A>T
c.30A>T
c.4694-186A>T
n.100A>T
n.31A>T
n.618A>T
n.2381A>T
2g.219211009T>CCA2119074ABCB6,ATG9Ac.2068A>G (p.Thr690Ala)
c.1930A>G (p.Thr644Ala)
c.1611A>G
c.30A>G
c.4694-186A>G
n.100A>G
n.31A>G
n.618A>G
n.2381A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211009T>GCA350684303ABCB6,ATG9Ac.2068A>C (p.Thr690Pro)
c.1930A>C (p.Thr644Pro)
c.1611A>C
c.30A>C
c.4694-186A>C
n.100A>C
n.31A>C
n.618A>C
n.2381A>C
 dbSNP gnomAD v4
2g.219211009T=CA1329112030ABCB6,ATG9Ac.2068A= (p.Thr690=)
c.1930A= (p.Thr644=)
c.1611A=
c.30A=
c.4694-186A=
n.100A=
n.31A=
n.618A=
n.2381A=
2g.219211010G>ACA431422334ABCB6,ATG9Ac.2067C>T (p.Val689=)
c.1929C>T (p.Val643=)
c.1610C>T
c.29C>T
c.4694-187C>T
n.99C>T
n.30C>T
n.617C>T
n.2380C>T
2g.219211010G>CCA431422333ABCB6,ATG9Ac.2067C>G (p.Val689=)
c.1929C>G (p.Val643=)
c.1610C>G
c.29C>G
c.4694-187C>G
n.99C>G
n.30C>G
n.617C>G
n.2380C>G
2g.219211010G>TCA431422335ABCB6,ATG9Ac.2067C>A (p.Val689=)
c.1929C>A (p.Val643=)
c.1610C>A
c.29C>A
c.4694-187C>A
n.99C>A
n.30C>A
n.617C>A
n.2380C>A
2g.219211011A>CCA350684308ABCB6,ATG9Ac.2066T>G (p.Val689Gly)
c.1928T>G (p.Val643Gly)
c.1609T>G
c.28T>G
c.4694-188T>G
n.98T>G
n.29T>G
n.616T>G
n.2379T>G
2g.219211011A>GCA350684313ABCB6,ATG9Ac.2066T>C (p.Val689Ala)
c.1928T>C (p.Val643Ala)
c.1609T>C
c.28T>C
c.4694-188T>C
n.98T>C
n.29T>C
n.616T>C
n.2379T>C
2g.219211011A>TCA350684316ABCB6,ATG9Ac.2066T>A (p.Val689Asp)
c.1928T>A (p.Val643Asp)
c.1609T>A
c.28T>A
c.4694-188T>A
n.98T>A
n.29T>A
n.616T>A
n.2379T>A
2g.219211012C>ACA350684318ABCB6,ATG9Ac.2065G>T (p.Val689Phe)
c.1927G>T (p.Val643Phe)
c.1608G>T
c.27G>T
c.4694-189G>T
n.97G>T
n.28G>T
n.615G>T
n.2378G>T
2g.219211012C>GCA350684334ABCB6,ATG9Ac.2065G>C (p.Val689Leu)
c.1927G>C (p.Val643Leu)
c.1608G>C
c.27G>C
c.4694-189G>C
n.97G>C
n.28G>C
n.615G>C
n.2378G>C
2g.219211012C>TCA350684338ABCB6,ATG9Ac.2065G>A (p.Val689Ile)
c.1927G>A (p.Val643Ile)
c.1608G>A
c.27G>A
c.4694-189G>A
n.97G>A
n.28G>A
n.615G>A
n.2378G>A
 gnomAD v4
2g.219211013A>CCA431422337ABCB6,ATG9Ac.2064T>G (p.Arg688=)
c.1926T>G (p.Arg642=)
c.1607T>G
c.26T>G
c.4694-190T>G
n.96T>G
n.27T>G
n.614T>G
n.2377T>G
2g.219211013A>GCA431422338ABCB6,ATG9Ac.2064T>C (p.Arg688=)
c.1926T>C (p.Arg642=)
c.1607T>C
c.26T>C
c.4694-190T>C
n.96T>C
n.27T>C
n.614T>C
n.2377T>C
2g.219211013A>TCA431422339ABCB6,ATG9Ac.2064T>A (p.Arg688=)
c.1926T>A (p.Arg642=)
c.1607T>A
c.26T>A
c.4694-190T>A
n.96T>A
n.27T>A
n.614T>A
n.2377T>A
2g.219211014C>ACA350684341ABCB6,ATG9Ac.2063G>T (p.Arg688Leu)
c.1925G>T (p.Arg642Leu)
c.1606G>T
c.25G>T
c.4694-191G>T
n.95G>T
n.26G>T
n.613G>T
n.2376G>T
2g.219211014C=CA1329112031ABCB6,ATG9Ac.2063G= (p.Arg688=)
c.1925G= (p.Arg642=)
c.1606G=
c.25G=
c.4694-191G=
n.95G=
n.26G=
n.613G=
n.2376G=
2g.219211014C>GCA350684351ABCB6,ATG9Ac.2063G>C (p.Arg688Pro)
c.1925G>C (p.Arg642Pro)
c.1606G>C
c.25G>C
c.4694-191G>C
n.95G>C
n.26G>C
n.613G>C
n.2376G>C
2g.219211014C>TCA2119075ABCB6,ATG9Ac.2063G>A (p.Arg688His)
c.1925G>A (p.Arg642His)
c.1606G>A
c.25G>A
c.4694-191G>A
n.95G>A
n.26G>A
n.613G>A
n.2376G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.219211015G>ACA350684361ABCB6,ATG9Ac.2062C>T (p.Arg688Cys)
c.1924C>T (p.Arg642Cys)
c.1605C>T
c.24C>T
c.4694-192C>T
n.94C>T
n.25C>T
n.612C>T
n.2375C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219211015G>CCA2119076ABCB6,ATG9Ac.2062C>G (p.Arg688Gly)
c.1924C>G (p.Arg642Gly)
c.1605C>G
c.24C>G
c.4694-192C>G
n.94C>G
n.25C>G
n.612C>G
n.2375C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211015G=CA1329112032ABCB6,ATG9Ac.2062C= (p.Arg688=)
c.1924C= (p.Arg642=)
c.1605C=
c.24C=
c.4694-192C=
n.94C=
n.25C=
n.612C=
n.2375C=
2g.219211015G>TCA350684365ABCB6,ATG9Ac.2062C>A (p.Arg688Ser)
c.1924C>A (p.Arg642Ser)
c.1605C>A
c.24C>A
c.4694-192C>A
n.94C>A
n.25C>A
n.612C>A
n.2375C>A
2g.219211016G>ACA431422341ABCB6,ATG9Ac.2061C>T (p.Gly687=)
c.1923C>T (p.Gly641=)
c.1604C>T
c.23C>T
c.4694-193C>T
n.93C>T
n.24C>T
n.611C>T
n.2374C>T
 dbSNP gnomAD v2 gnomAD v4
2g.219211016G>CCA431422342ABCB6,ATG9Ac.2061C>G (p.Gly687=)
c.1923C>G (p.Gly641=)
c.1604C>G
c.23C>G
c.4694-193C>G
n.93C>G
n.24C>G
n.611C>G
n.2374C>G
2g.219211016G=CA1329112033ABCB6,ATG9Ac.2061C= (p.Gly687=)
c.1923C= (p.Gly641=)
c.1604C=
c.23C=
c.4694-193C=
n.93C=
n.24C=
n.611C=
n.2374C=
2g.219211016G>TCA431422343ABCB6,ATG9Ac.2061C>A (p.Gly687=)
c.1923C>A (p.Gly641=)
c.1604C>A
c.23C>A
c.4694-193C>A
n.93C>A
n.24C>A
n.611C>A
n.2374C>A
2g.219211017C>ACA350684378ABCB6,ATG9Ac.2060G>T (p.Gly687Val)
c.1922G>T (p.Gly641Val)
c.1603G>T
c.22G>T
c.4694-194G>T
n.92G>T
n.23G>T
n.610G>T
n.2373G>T
2g.219211017C>GCA350684379ABCB6,ATG9Ac.2060G>C (p.Gly687Ala)
c.1922G>C (p.Gly641Ala)
c.1603G>C
c.22G>C
c.4694-194G>C
n.92G>C
n.23G>C
n.610G>C
n.2373G>C
2g.219211017C>TCA350684380ABCB6,ATG9Ac.2060G>A (p.Gly687Asp)
c.1922G>A (p.Gly641Asp)
c.1603G>A
c.22G>A
c.4694-194G>A
n.92G>A
n.23G>A
n.610G>A
n.2373G>A
2g.219211018C>ACA350684383ABCB6,ATG9Ac.2059G>T (p.Gly687Cys)
c.1921G>T (p.Gly641Cys)
c.1602G>T
c.21G>T
c.4694-195G>T
n.91G>T
n.22G>T
n.609G>T
n.2372G>T
2g.219211018C=CA1329112034ABCB6,ATG9Ac.2059G= (p.Gly687=)
c.1921G= (p.Gly641=)
c.1602G=
c.21G=
c.4694-195G=
n.91G=
n.22G=
n.609G=
n.2372G=
2g.219211018C>GCA350684384ABCB6,ATG9Ac.2059G>C (p.Gly687Arg)
c.1921G>C (p.Gly641Arg)
c.1602G>C
c.21G>C
c.4694-195G>C
n.91G>C
n.22G>C
n.609G>C
n.2372G>C
2g.219211018C>TCA65998984ABCB6,ATG9Ac.2059G>A (p.Gly687Ser)
c.1921G>A (p.Gly641Ser)
c.1602G>A
c.21G>A
c.4694-195G>A
n.91G>A
n.22G>A
n.609G>A
n.2372G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219211019G>ACA2119077ABCB6,ATG9Ac.2058C>T (p.Tyr686=)
c.1920C>T (p.Tyr640=)
c.1601C>T
c.20C>T
c.4694-196C>T
n.90C>T
n.21C>T
n.608C>T
n.2371C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211019G>CCA350684397ABCB6,ATG9Ac.2058C>G (p.Tyr686Ter)
c.1920C>G (p.Tyr640Ter)
c.1601C>G
c.20C>G
c.4694-196C>G
n.90C>G
n.21C>G
n.608C>G
n.2371C>G
2g.219211019G=CA1329112035ABCB6,ATG9Ac.2058C= (p.Tyr686=)
c.1920C= (p.Tyr640=)
c.1601C=
c.20C=
c.4694-196C=
n.90C=
n.21C=
n.608C=
n.2371C=
2g.219211019G>TCA350684398ABCB6,ATG9Ac.2058C>A (p.Tyr686Ter)
c.1920C>A (p.Tyr640Ter)
c.1601C>A
c.20C>A
c.4694-196C>A
n.90C>A
n.21C>A
n.608C>A
n.2371C>A
2g.219211020T>ACA350684402ABCB6,ATG9Ac.2057A>T (p.Tyr686Phe)
c.1919A>T (p.Tyr640Phe)
c.1600A>T
c.19A>T
c.4694-197A>T
n.89A>T
n.20A>T
n.607A>T
n.2370A>T
2g.219211020T>CCA350684413ABCB6,ATG9Ac.2057A>G (p.Tyr686Cys)
c.1919A>G (p.Tyr640Cys)
c.1600A>G
c.19A>G
c.4694-197A>G
n.89A>G
n.20A>G
n.607A>G
n.2370A>G
2g.219211020T>GCA350684423ABCB6,ATG9Ac.2057A>C (p.Tyr686Ser)
c.1919A>C (p.Tyr640Ser)
c.1600A>C
c.19A>C
c.4694-197A>C
n.89A>C
n.20A>C
n.607A>C
n.2370A>C
2g.219211020dupCA2663212253ABCB6,ATG9Ac.2057dup (p.Tyr686Ter)
c.1919dup (p.Tyr640Ter)
c.1600dup
c.19dup
c.4694-197dup
n.89dup
n.20dup
n.607dup
n.2370dup
 gnomAD v4
2g.219211021A>CCA350684428ABCB6,ATG9Ac.2056T>G (p.Tyr686Asp)
c.1918T>G (p.Tyr640Asp)
c.1599T>G
c.18T>G
c.4694-198T>G
n.88T>G
n.19T>G
n.606T>G
n.2369T>G
2g.219211021A>GCA350684430ABCB6,ATG9Ac.2056T>C (p.Tyr686His)
c.1918T>C (p.Tyr640His)
c.1599T>C
c.18T>C
c.4694-198T>C
n.88T>C
n.19T>C
n.606T>C
n.2369T>C
2g.219211021A>TCA350684432ABCB6,ATG9Ac.2056T>A (p.Tyr686Asn)
c.1918T>A (p.Tyr640Asn)
c.1599T>A
c.18T>A
c.4694-198T>A
n.88T>A
n.19T>A
n.606T>A
n.2369T>A
2g.219211022A=CA1329112036ABCB6,ATG9Ac.2055T= (p.Arg685=)
c.1917T= (p.Arg639=)
c.1598T=
c.17T=
c.4694-199T=
n.87T=
n.18T=
n.605T=
n.2368T=
2g.219211022A>CCA431422346ABCB6,ATG9Ac.2055T>G (p.Arg685=)
c.1917T>G (p.Arg639=)
c.1598T>G
c.17T>G
c.4694-199T>G
n.87T>G
n.18T>G
n.605T>G
n.2368T>G
 dbSNP
2g.219211022A>GCA431422347ABCB6,ATG9Ac.2055T>C (p.Arg685=)
c.1917T>C (p.Arg639=)
c.1598T>C
c.17T>C
c.4694-199T>C
n.87T>C
n.18T>C
n.605T>C
n.2368T>C
2g.219211022A>TCA431422348ABCB6,ATG9Ac.2055T>A (p.Arg685=)
c.1917T>A (p.Arg639=)
c.1598T>A
c.17T>A
c.4694-199T>A
n.87T>A
n.18T>A
n.605T>A
n.2368T>A
2g.219211023C>ACA350684435ABCB6,ATG9Ac.2054G>T (p.Arg685Leu)
c.1916G>T (p.Arg639Leu)
c.1597G>T
c.16G>T
c.4694-200G>T
n.86G>T
n.17G>T
n.604G>T
n.2367G>T
2g.219211023C=CA1329112037ABCB6,ATG9Ac.2054G= (p.Arg685=)
c.1916G= (p.Arg639=)
c.1597G=
c.16G=
c.4694-200G=
n.86G=
n.17G=
n.604G=
n.2367G=
2g.219211023C>GCA350684437ABCB6,ATG9Ac.2054G>C (p.Arg685Pro)
c.1916G>C (p.Arg639Pro)
c.1597G>C
c.16G>C
c.4694-200G>C
n.86G>C
n.17G>C
n.604G>C
n.2367G>C
2g.219211023C>TCA2119078ABCB6,ATG9Ac.2054G>A (p.Arg685His)
c.1916G>A (p.Arg639His)
c.1597G>A
c.16G>A
c.4694-200G>A
n.86G>A
n.17G>A
n.604G>A
n.2367G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211024G>ACA2119079ABCB6,ATG9Ac.2053C>T (p.Arg685Cys)
c.1915C>T (p.Arg639Cys)
c.1596C>T
c.15C>T
c.4694-201C>T
n.85C>T
n.16C>T
n.603C>T
n.2366C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211024G>CCA350684454ABCB6,ATG9Ac.2053C>G (p.Arg685Gly)
c.1915C>G (p.Arg639Gly)
c.1596C>G
c.15C>G
c.4694-201C>G
n.85C>G
n.16C>G
n.603C>G
n.2366C>G
2g.219211024G=CA1329112038ABCB6,ATG9Ac.2053C= (p.Arg685=)
c.1915C= (p.Arg639=)
c.1596C=
c.15C=
c.4694-201C=
n.85C=
n.16C=
n.603C=
n.2366C=
2g.219211024G>TCA350684452ABCB6,ATG9Ac.2053C>A (p.Arg685Ser)
c.1915C>A (p.Arg639Ser)
c.1596C>A
c.15C>A
c.4694-201C>A
n.85C>A
n.16C>A
n.603C>A
n.2366C>A
2g.219211025G>ACA2119080ABCB6,ATG9Ac.2052C>T (p.Ile684=)
c.1914C>T (p.Ile638=)
c.1595C>T
c.14C>T
c.4694-202C>T
n.84C>T
n.15C>T
n.602C>T
n.2365C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211025G>CCA350684455ABCB6,ATG9Ac.2052C>G (p.Ile684Met)
c.1914C>G (p.Ile638Met)
c.1595C>G
c.14C>G
c.4694-202C>G
n.84C>G
n.15C>G
n.602C>G
n.2365C>G
 gnomAD v4
2g.219211025G=CA1329112039ABCB6,ATG9Ac.2052C= (p.Ile684=)
c.1914C= (p.Ile638=)
c.1595C=
c.14C=
c.4694-202C=
n.84C=
n.15C=
n.602C=
n.2365C=
2g.219211025G>TCA431422352ABCB6,ATG9Ac.2052C>A (p.Ile684=)
c.1914C>A (p.Ile638=)
c.1595C>A
c.14C>A
c.4694-202C>A
n.84C>A
n.15C>A
n.602C>A
n.2365C>A
2g.219211026A>CCA350684457ABCB6,ATG9Ac.2051T>G (p.Ile684Ser)
c.1913T>G (p.Ile638Ser)
c.1594T>G
c.13T>G
c.4694-203T>G
n.83T>G
n.14T>G
n.601T>G
n.2364T>G
2g.219211026A>GCA350684459ABCB6,ATG9Ac.2051T>C (p.Ile684Thr)
c.1913T>C (p.Ile638Thr)
c.1594T>C
c.13T>C
c.4694-203T>C
n.83T>C
n.14T>C
n.601T>C
n.2364T>C
2g.219211026A>TCA350684462ABCB6,ATG9Ac.2051T>A (p.Ile684Asn)
c.1913T>A (p.Ile638Asn)
c.1594T>A
c.13T>A
c.4694-203T>A
n.83T>A
n.14T>A
n.601T>A
n.2364T>A
2g.219211027T>ACA350684466ABCB6,ATG9Ac.2050A>T (p.Ile684Phe)
c.1912A>T (p.Ile638Phe)
c.1593A>T
c.12A>T
c.4694-204A>T
n.82A>T
n.13A>T
n.600A>T
n.2363A>T
 dbSNP gnomAD v3 gnomAD v4
2g.219211027T>CCA350684464ABCB6,ATG9Ac.2050A>G (p.Ile684Val)
c.1912A>G (p.Ile638Val)
c.1593A>G
c.12A>G
c.4694-204A>G
n.82A>G
n.13A>G
n.600A>G
n.2363A>G
2g.219211027T>GCA350684465ABCB6,ATG9Ac.2050A>C (p.Ile684Leu)
c.1912A>C (p.Ile638Leu)
c.1593A>C
c.12A>C
c.4694-204A>C
n.82A>C
n.13A>C
n.600A>C
n.2363A>C
2g.219211027T=CA1329112040ABCB6,ATG9Ac.2050A= (p.Ile684=)
c.1912A= (p.Ile638=)
c.1593A=
c.12A=
c.4694-204A=
n.82A=
n.13A=
n.600A=
n.2363A=
2g.219211028A>CCA350684469ABCB6,ATG9Ac.2049T>G (p.Asn683Lys)
c.1911T>G (p.Asn637Lys)
c.1592T>G
c.11T>G
c.4694-205T>G
n.81T>G
n.12T>G
n.599T>G
n.2362T>G
2g.219211028A>GCA431422354ABCB6,ATG9Ac.2049T>C (p.Asn683=)
c.1911T>C (p.Asn637=)
c.1592T>C
c.11T>C
c.4694-205T>C
n.81T>C
n.12T>C
n.599T>C
n.2362T>C
2g.219211028A>TCA350684470ABCB6,ATG9Ac.2049T>A (p.Asn683Lys)
c.1911T>A (p.Asn637Lys)
c.1592T>A
c.11T>A
c.4694-205T>A
n.81T>A
n.12T>A
n.599T>A
n.2362T>A
2g.219211029T>ACA350684474ABCB6,ATG9Ac.2048A>T (p.Asn683Ile)
c.1910A>T (p.Asn637Ile)
c.1591A>T
c.10A>T
c.4694-206A>T
n.80A>T
n.11A>T
n.598A>T
n.2361A>T
2g.219211029T>CCA350684476ABCB6,ATG9Ac.2048A>G (p.Asn683Ser)
c.1910A>G (p.Asn637Ser)
c.1591A>G
c.10A>G
c.4694-206A>G
n.80A>G
n.11A>G
n.598A>G
n.2361A>G
2g.219211029T>GCA350684480ABCB6,ATG9Ac.2048A>C (p.Asn683Thr)
c.1910A>C (p.Asn637Thr)
c.1591A>C
c.10A>C
c.4694-206A>C
n.80A>C
n.11A>C
n.598A>C
n.2361A>C
2g.219211030T>ACA350684483ABCB6,ATG9Ac.2047A>T (p.Asn683Tyr)
c.1909A>T (p.Asn637Tyr)
c.1590A>T
c.9A>T
c.4694-207A>T
n.79A>T
n.10A>T
n.597A>T
n.2360A>T
2g.219211030T>CCA350684498ABCB6,ATG9Ac.2047A>G (p.Asn683Asp)
c.1909A>G (p.Asn637Asp)
c.1590A>G
c.9A>G
c.4694-207A>G
n.79A>G
n.10A>G
n.597A>G
n.2360A>G
2g.219211030T>GCA350684492ABCB6,ATG9Ac.2047A>C (p.Asn683His)
c.1909A>C (p.Asn637His)
c.1590A>C
c.9A>C
c.4694-207A>C
n.79A>C
n.10A>C
n.597A>C
n.2360A>C
2g.219211031G>ACA431422357ABCB6,ATG9Ac.2046C>T (p.Asp682=)
c.1908C>T (p.Asp636=)
c.1589C>T
c.8C>T
c.4694-208C>T
n.78C>T
n.9C>T
n.596C>T
n.2359C>T
 gnomAD v4
2g.219211031G>CCA350684501ABCB6,ATG9Ac.2046C>G (p.Asp682Glu)
c.1908C>G (p.Asp636Glu)
c.1589C>G
c.8C>G
c.4694-208C>G
n.78C>G
n.9C>G
n.596C>G
n.2359C>G
2g.219211031G>TCA350684504ABCB6,ATG9Ac.2046C>A (p.Asp682Glu)
c.1908C>A (p.Asp636Glu)
c.1589C>A
c.8C>A
c.4694-208C>A
n.78C>A
n.9C>A
n.596C>A
n.2359C>A
2g.219211032T>ACA350684513ABCB6,ATG9Ac.2045A>T (p.Asp682Val)
c.1907A>T (p.Asp636Val)
c.1588A>T
c.7A>T
c.4694-209A>T
n.77A>T
n.8A>T
n.595A>T
n.2358A>T
2g.219211032T>CCA350684519ABCB6,ATG9Ac.2045A>G (p.Asp682Gly)
c.1907A>G (p.Asp636Gly)
c.1588A>G
c.7A>G
c.4694-209A>G
n.77A>G
n.8A>G
n.595A>G
n.2358A>G
2g.219211032T>GCA350684523ABCB6,ATG9Ac.2045A>C (p.Asp682Ala)
c.1907A>C (p.Asp636Ala)
c.1588A>C
c.7A>C
c.4694-209A>C
n.77A>C
n.8A>C
n.595A>C
n.2358A>C
2g.219211033C>ACA350684526ABCB6,ATG9Ac.2044G>T (p.Asp682Tyr)
c.1906G>T (p.Asp636Tyr)
c.1587G>T
c.6G>T
c.4694-210G>T
n.76G>T
n.7G>T
n.594G>T
n.2357G>T
2g.219211033C=CA1329112041ABCB6,ATG9Ac.2044G= (p.Asp682=)
c.1906G= (p.Asp636=)
c.1587G=
c.6G=
c.4694-210G=
n.76G=
n.7G=
n.594G=
n.2357G=
2g.219211033C>GCA2119082ABCB6,ATG9Ac.2044G>C (p.Asp682His)
c.1906G>C (p.Asp636His)
c.1587G>C
c.6G>C
c.4694-210G>C
n.76G>C
n.7G>C
n.594G>C
n.2357G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211033C>TCA2119081ABCB6,ATG9Ac.2044G>A (p.Asp682Asn)
c.1906G>A (p.Asp636Asn)
c.1587G>A
c.6G>A
c.4694-210G>A
n.76G>A
n.7G>A
n.594G>A
n.2357G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211034G>ACA2119083ABCB6,ATG9Ac.2043C>T (p.Ala681=)
c.1905C>T (p.Ala635=)
c.1586C>T
c.5C>T
c.4694-211C>T
n.75C>T
n.6C>T
n.593C>T
n.2356C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211034G>CCA431422361ABCB6,ATG9Ac.2043C>G (p.Ala681=)
c.1905C>G (p.Ala635=)
c.1586C>G
c.5C>G
c.4694-211C>G
n.75C>G
n.6C>G
n.593C>G
n.2356C>G
2g.219211034G=CA1329112042ABCB6,ATG9Ac.2043C= (p.Ala681=)
c.1905C= (p.Ala635=)
c.1586C=
c.5C=
c.4694-211C=
n.75C=
n.6C=
n.593C=
n.2356C=
2g.219211034G>TCA431422360ABCB6,ATG9Ac.2043C>A (p.Ala681=)
c.1905C>A (p.Ala635=)
c.1586C>A
c.5C>A
c.4694-211C>A
n.75C>A
n.6C>A
n.593C>A
n.2356C>A
2g.219211035G>ACA2119084ABCB6,ATG9Ac.2042C>T (p.Ala681Val)
c.1904C>T (p.Ala635Val)
c.1585C>T
c.4C>T
c.4694-212C>T
n.74C>T
n.5C>T
n.592C>T
n.2355C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211035G>CCA350684547ABCB6,ATG9Ac.2042C>G (p.Ala681Gly)
c.1904C>G (p.Ala635Gly)
c.1585C>G
c.4C>G
c.4694-212C>G
n.74C>G
n.5C>G
n.592C>G
n.2355C>G
2g.219211035G=CA1329112043ABCB6,ATG9Ac.2042C= (p.Ala681=)
c.1904C= (p.Ala635=)
c.1585C=
c.4C=
c.4694-212C=
n.74C=
n.5C=
n.592C=
n.2355C=
2g.219211035G>TCA350684550ABCB6,ATG9Ac.2042C>A (p.Ala681Asp)
c.1904C>A (p.Ala635Asp)
c.1585C>A
c.4C>A
c.4694-212C>A
n.74C>A
n.5C>A
n.592C>A
n.2355C>A
2g.219211036C>ACA350684555ABCB6,ATG9Ac.2041G>T (p.Ala681Ser)
c.1903G>T (p.Ala635Ser)
c.1584G>T
c.3G>T
c.4694-213G>T
n.73G>T
n.4G>T
n.591G>T
n.2354G>T
2g.219211036C=CA1329112044ABCB6,ATG9Ac.2041G= (p.Ala681=)
c.1903G= (p.Ala635=)
c.1584G=
c.3G=
c.4694-213G=
n.73G=
n.4G=
n.591G=
n.2354G=
2g.219211036C>GCA350684569ABCB6,ATG9Ac.2041G>C (p.Ala681Pro)
c.1903G>C (p.Ala635Pro)
c.1584G>C
c.3G>C
c.4694-213G>C
n.73G>C
n.4G>C
n.591G>C
n.2354G>C
 dbSNP gnomAD v2 gnomAD v4
2g.219211036C>TCA2119085ABCB6,ATG9Ac.2041G>A (p.Ala681Thr)
c.1903G>A (p.Ala635Thr)
c.1584G>A
c.3G>A
c.4694-213G>A
n.73G>A
n.4G>A
n.591G>A
n.2354G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211037G>ACA2119086ABCB6,ATG9Ac.2040C>T (p.Ile680=)
c.1902C>T (p.Ile634=)
c.1583C>T
c.2C>T
c.4694-214C>T
n.72C>T
n.3C>T
n.590C>T
n.2353C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211037G>CCA350684576ABCB6,ATG9Ac.2040C>G (p.Ile680Met)
c.1902C>G (p.Ile634Met)
c.1583C>G
c.2C>G
c.4694-214C>G
n.72C>G
n.3C>G
n.590C>G
n.2353C>G
2g.219211037G=CA1329112045ABCB6,ATG9Ac.2040C= (p.Ile680=)
c.1902C= (p.Ile634=)
c.1583C=
c.2C=
c.4694-214C=
n.72C=
n.3C=
n.590C=
n.2353C=
2g.219211037G>TCA431422364ABCB6,ATG9Ac.2040C>A (p.Ile680=)
c.1902C>A (p.Ile634=)
c.1583C>A
c.2C>A
c.4694-214C>A
n.72C>A
n.3C>A
n.590C>A
n.2353C>A
2g.219211038A>CCA350684590ABCB6,ATG9Ac.2039T>G (p.Ile680Ser)
c.1901T>G (p.Ile634Ser)
c.1582T>G
c.1T>G
c.4694-215T>G
n.71T>G
n.2T>G
n.589T>G
n.2352T>G
2g.219211038A>GCA350684594ABCB6,ATG9Ac.2039T>C (p.Ile680Thr)
c.1901T>C (p.Ile634Thr)
c.1582T>C
c.1T>C
c.4694-215T>C
n.71T>C
n.2T>C
n.589T>C
n.2352T>C
2g.219211038A>TCA350684607ABCB6,ATG9Ac.2039T>A (p.Ile680Asn)
c.1901T>A (p.Ile634Asn)
c.1582T>A
c.1T>A
c.4694-215T>A
n.71T>A
n.2T>A
n.589T>A
n.2352T>A
2g.219211039T>ACA350684618ABCB6,ATG9Ac.2038A>T (p.Ile680Phe)
c.1900A>T (p.Ile634Phe)
c.1581A>T
c.4694-216A>T
n.70A>T
n.1A>T
n.588A>T
n.2351A>T
2g.219211039T>CCA350684621ABCB6,ATG9Ac.2038A>G (p.Ile680Val)
c.1900A>G (p.Ile634Val)
c.1581A>G
c.4694-216A>G
n.70A>G
n.1A>G
n.588A>G
n.2351A>G
2g.219211039T>GCA350684627ABCB6,ATG9Ac.2038A>C (p.Ile680Leu)
c.1900A>C (p.Ile634Leu)
c.1581A>C
c.4694-216A>C
n.70A>C
n.1A>C
n.588A>C
n.2351A>C
2g.219211040G>ACA431422366ABCB6,ATG9Ac.2037C>T (p.Thr679=)
c.1899C>T (p.Thr633=)
c.1580C>T
c.4694-217C>T
n.69C>T
n.587C>T
n.2350C>T
2g.219211040G>CCA431422367ABCB6,ATG9Ac.2037C>G (p.Thr679=)
c.1899C>G (p.Thr633=)
c.1580C>G
c.4694-217C>G
n.69C>G
n.587C>G
n.2350C>G
2g.219211040G>TCA431422368ABCB6,ATG9Ac.2037C>A (p.Thr679=)
c.1899C>A (p.Thr633=)
c.1580C>A
c.4694-217C>A
n.69C>A
n.587C>A
n.2350C>A
2g.219211041G>ACA2119087ABCB6,ATG9Ac.2036C>T (p.Thr679Ile)
c.1898C>T (p.Thr633Ile)
c.1579C>T
c.4694-218C>T
n.68C>T
n.586C>T
n.2349C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.219211041G>CCA350684634ABCB6,ATG9Ac.2036C>G (p.Thr679Ser)
c.1898C>G (p.Thr633Ser)
c.1579C>G
c.4694-218C>G
n.68C>G
n.586C>G
n.2349C>G
2g.219211041G=CA1329112046ABCB6,ATG9Ac.2036C= (p.Thr679=)
c.1898C= (p.Thr633=)
c.1579C=
c.4694-218C=
n.68C=
n.586C=
n.2349C=
2g.219211041G>TCA350684635ABCB6,ATG9Ac.2036C>A (p.Thr679Asn)
c.1898C>A (p.Thr633Asn)
c.1579C>A
c.4694-218C>A
n.68C>A
n.586C>A
n.2349C>A
2g.219211042T>ACA350684638ABCB6,ATG9Ac.2035A>T (p.Thr679Ser)
c.1897A>T (p.Thr633Ser)
c.1578A>T
c.4694-219A>T
n.67A>T
n.585A>T
n.2348A>T
2g.219211042T>CCA350684639ABCB6,ATG9Ac.2035A>G (p.Thr679Ala)
c.1897A>G (p.Thr633Ala)
c.1578A>G
c.4694-219A>G
n.67A>G
n.585A>G
n.2348A>G
2g.219211042T>GCA350684640ABCB6,ATG9Ac.2035A>C (p.Thr679Pro)
c.1897A>C (p.Thr633Pro)
c.1578A>C
c.4694-219A>C
n.67A>C
n.585A>C
n.2348A>C
 dbSNP
2g.219211042T=CA1329112047ABCB6,ATG9Ac.2035A= (p.Thr679=)
c.1897A= (p.Thr633=)
c.1578A=
c.4694-219A=
n.67A=
n.585A=
n.2348A=
2g.219211043G>ACA2119088ABCB6,ATG9Ac.2034C>T (p.Asp678=)
c.1896C>T (p.Asp632=)
c.1577C>T
c.4694-220C>T
n.66C>T
n.584C>T
n.2347C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.219211043G>CCA350684643ABCB6,ATG9Ac.2034C>G (p.Asp678Glu)
c.1896C>G (p.Asp632Glu)
c.1577C>G
c.4694-220C>G
n.66C>G
n.584C>G
n.2347C>G
 gnomAD v4
2g.219211043G=CA1329112048ABCB6,ATG9Ac.2034C= (p.Asp678=)
c.1896C= (p.Asp632=)
c.1577C=
c.4694-220C=
n.66C=
n.584C=
n.2347C=
2g.219211043G>TCA350684641ABCB6,ATG9Ac.2034C>A (p.Asp678Glu)
c.1896C>A (p.Asp632Glu)
c.1577C>A
c.4694-220C>A
n.66C>A
n.584C>A
n.2347C>A
2g.219211044T>ACA350684652ABCB6,ATG9Ac.2033A>T (p.Asp678Val)
c.1895A>T (p.Asp632Val)
c.1576A>T
c.4694-221A>T
n.65A>T
n.583A>T
n.2346A>T
2g.219211044T>CCA350684657ABCB6,ATG9Ac.2033A>G (p.Asp678Gly)
c.1895A>G (p.Asp632Gly)
c.1576A>G
c.4694-221A>G
n.65A>G
n.583A>G
n.2346A>G
2g.219211044T>GCA350684661ABCB6,ATG9Ac.2033A>C (p.Asp678Ala)
c.1895A>C (p.Asp632Ala)
c.1576A>C
c.4694-221A>C
n.65A>C
n.583A>C
n.2346A>C
 dbSNP gnomAD v4
2g.219211044T=CA1329112049ABCB6,ATG9Ac.2033A= (p.Asp678=)
c.1895A= (p.Asp632=)
c.1576A=
c.4694-221A=
n.65A=
n.583A=
n.2346A=
2g.219211045C>ACA350684665ABCB6,ATG9Ac.2032G>T (p.Asp678Tyr)
c.1894G>T (p.Asp632Tyr)
c.1575G>T
c.4694-222G>T
n.64G>T
n.582G>T
n.2345G>T
2g.219211045C>GCA350684675ABCB6,ATG9Ac.2032G>C (p.Asp678His)
c.1894G>C (p.Asp632His)
c.1575G>C
c.4694-222G>C
n.64G>C
n.582G>C
n.2345G>C
2g.219211045C>TCA350684679ABCB6,ATG9Ac.2032G>A (p.Asp678Asn)
c.1894G>A (p.Asp632Asn)
c.1575G>A
c.4694-222G>A
n.64G>A
n.582G>A
n.2345G>A
2g.219211046A=CA1329112050ABCB6,ATG9Ac.2031T= (p.Asn677=)
c.1893T= (p.Asn631=)
c.1574T=
c.4694-223T=
n.63T=
n.581T=
n.2344T=
2g.219211046A>CCA350684681ABCB6,ATG9Ac.2031T>G (p.Asn677Lys)
c.1893T>G (p.Asn631Lys)
c.1574T>G
c.4694-223T>G
n.63T>G
n.581T>G
n.2344T>G
2g.219211046A>GCA431422374ABCB6,ATG9Ac.2031T>C (p.Asn677=)
c.1893T>C (p.Asn631=)
c.1574T>C
c.4694-223T>C
n.63T>C
n.581T>C
n.2344T>C
 dbSNP gnomAD v4
2g.219211046A>TCA350684694ABCB6,ATG9Ac.2031T>A (p.Asn677Lys)
c.1893T>A (p.Asn631Lys)
c.1574T>A
c.4694-223T>A
n.63T>A
n.581T>A
n.2344T>A
 gnomAD v4
2g.219211047T>ACA350684695ABCB6,ATG9Ac.2030A>T (p.Asn677Ile)
c.1892A>T (p.Asn631Ile)
c.1573A>T
c.4694-224A>T
n.62A>T
n.580A>T
n.2343A>T
2g.219211047T>CCA350684696ABCB6,ATG9Ac.2030A>G (p.Asn677Ser)
c.1892A>G (p.Asn631Ser)
c.1573A>G
c.4694-224A>G
n.62A>G
n.580A>G
n.2343A>G
2g.219211047T>GCA350684697ABCB6,ATG9Ac.2030A>C (p.Asn677Thr)
c.1892A>C (p.Asn631Thr)
c.1573A>C
c.4694-224A>C
n.62A>C
n.580A>C
n.2343A>C
2g.219211048T>ACA350684698ABCB6,ATG9Ac.2029A>T (p.Asn677Tyr)
c.1891A>T (p.Asn631Tyr)
c.1572A>T
c.4694-225A>T
n.61A>T
n.579A>T
n.2342A>T
2g.219211048T>CCA2119089ABCB6,ATG9Ac.2029A>G (p.Asn677Asp)
c.1891A>G (p.Asn631Asp)
c.1572A>G
c.4694-225A>G
n.61A>G
n.579A>G
n.2342A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211048T>GCA350684699ABCB6,ATG9Ac.2029A>C (p.Asn677His)
c.1891A>C (p.Asn631His)
c.1572A>C
c.4694-225A>C
n.61A>C
n.579A>C
n.2342A>C
2g.219211048T=CA1329112051ABCB6,ATG9Ac.2029A= (p.Asn677=)
c.1891A= (p.Asn631=)
c.1572A=
c.4694-225A=
n.61A=
n.579A=
n.2342A=
2g.219211049A=CA1329112052ABCB6,ATG9Ac.2028T= (p.Phe676=)
c.1890T= (p.Phe630=)
c.1571T=
c.4694-226T=
n.60T=
n.578T=
n.2341T=
2g.219211049A>CCA350684702ABCB6,ATG9Ac.2028T>G (p.Phe676Leu)
c.1890T>G (p.Phe630Leu)
c.1571T>G
c.4694-226T>G
n.60T>G
n.578T>G
n.2341T>G
 gnomAD v4
2g.219211049A>GCA431422379ABCB6,ATG9Ac.2028T>C (p.Phe676=)
c.1890T>C (p.Phe630=)
c.1571T>C
c.4694-226T>C
n.60T>C
n.578T>C
n.2341T>C
 dbSNP gnomAD v3 gnomAD v4
2g.219211049A>TCA350684704ABCB6,ATG9Ac.2028T>A (p.Phe676Leu)
c.1890T>A (p.Phe630Leu)
c.1571T>A
c.4694-226T>A
n.60T>A
n.578T>A
n.2341T>A
2g.219211050_219211051delCA2663212263ABCB6,ATG9Ac.2027_2028del (p.Phe676Ter)
c.1889_1890del (p.Phe630Ter)
c.1570_1571del
c.4694-227_4694-226del
n.59_60del
n.577_578del
n.2340_2341del
 gnomAD v4
2g.219211050A>CCA350684708ABCB6,ATG9Ac.2027T>G (p.Phe676Cys)
c.1889T>G (p.Phe630Cys)
c.1570T>G
c.4694-227T>G
n.59T>G
n.577T>G
n.2340T>G
2g.219211050A>GCA350684712ABCB6,ATG9Ac.2027T>C (p.Phe676Ser)
c.1889T>C (p.Phe630Ser)
c.1570T>C
c.4694-227T>C
n.59T>C
n.577T>C
n.2340T>C
2g.219211050A>TCA350684715ABCB6,ATG9Ac.2027T>A (p.Phe676Tyr)
c.1889T>A (p.Phe630Tyr)
c.1570T>A
c.4694-227T>A
n.59T>A
n.577T>A
n.2340T>A
2g.219211051A>CCA350684719ABCB6,ATG9Ac.2026T>G (p.Phe676Val)
c.1888T>G (p.Phe630Val)
c.1569T>G
c.4694-228T>G
n.58T>G
n.576T>G
n.2339T>G
2g.219211051A>GCA350684725ABCB6,ATG9Ac.2026T>C (p.Phe676Leu)
c.1888T>C (p.Phe630Leu)
c.1569T>C
c.4694-228T>C
n.58T>C
n.576T>C
n.2339T>C
2g.219211051A>TCA350684728ABCB6,ATG9Ac.2026T>A (p.Phe676Ile)
c.1888T>A (p.Phe630Ile)
c.1569T>A
c.4694-228T>A
n.58T>A
n.576T>A
n.2339T>A
2g.219211052G>ACA431422383ABCB6,ATG9Ac.2025C>T (p.Leu675=)
c.1887C>T (p.Leu629=)
c.1568C>T
c.4694-229C>T
n.57C>T
n.575C>T
n.2338C>T
 dbSNP gnomAD v4
2g.219211052G>CCA431422382ABCB6,ATG9Ac.2025C>G (p.Leu675=)
c.1887C>G (p.Leu629=)
c.1568C>G
c.4694-229C>G
n.57C>G
n.575C>G
n.2338C>G
2g.219211052G=CA1329112053ABCB6,ATG9Ac.2025C= (p.Leu675=)
c.1887C= (p.Leu629=)
c.1568C=
c.4694-229C=
n.57C=
n.575C=
n.2338C=
2g.219211052G>TCA431422381ABCB6,ATG9Ac.2025C>A (p.Leu675=)
c.1887C>A (p.Leu629=)
c.1568C>A
c.4694-229C>A
n.57C>A
n.575C>A
n.2338C>A
2g.219211053A=CA1329112054ABCB6,ATG9Ac.2024T= (p.Leu675=)
c.1886T= (p.Leu629=)
c.1567T=
c.4694-230T=
n.56T=
n.574T=
n.2337T=
2g.219211053A>CCA350684732ABCB6,ATG9Ac.2024T>G (p.Leu675Arg)
c.1886T>G (p.Leu629Arg)
c.1567T>G
c.4694-230T>G
n.56T>G
n.574T>G
n.2337T>G
 gnomAD v4
2g.219211053A>GCA350684737ABCB6,ATG9Ac.2024T>C (p.Leu675Pro)
c.1886T>C (p.Leu629Pro)
c.1567T>C
c.4694-230T>C
n.56T>C
n.574T>C
n.2337T>C
2g.219211053A>TCA350684740ABCB6,ATG9Ac.2024T>A (p.Leu675His)
c.1886T>A (p.Leu629His)
c.1567T>A
c.4694-230T>A
n.56T>A
n.574T>A
n.2337T>A
 dbSNP gnomAD v3 gnomAD v4
2g.219211054G>ACA350684748ABCB6,ATG9Ac.2023C>T (p.Leu675Phe)
c.1885C>T (p.Leu629Phe)
c.1566C>T
c.4694-231C>T
n.55C>T
n.573C>T
n.2336C>T
2g.219211054G>CCA2119090ABCB6,ATG9Ac.2023C>G (p.Leu675Val)
c.1885C>G (p.Leu629Val)
c.1566C>G
c.4694-231C>G
n.55C>G
n.573C>G
n.2336C>G
 dbSNP ExAC gnomAD v2
2g.219211054G=CA1329112055ABCB6,ATG9Ac.2023C= (p.Leu675=)
c.1885C= (p.Leu629=)
c.1566C=
c.4694-231C=
n.55C=
n.573C=
n.2336C=
2g.219211054G>TCA65999094ABCB6,ATG9Ac.2023C>A (p.Leu675Ile)
c.1885C>A (p.Leu629Ile)
c.1566C>A
c.4694-231C>A
n.55C>A
n.573C>A
n.2336C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219211055G>ACA431422384ABCB6,ATG9Ac.2022C>T (p.Val674=)
c.1884C>T (p.Val628=)
c.1565C>T
c.4694-232C>T
n.54C>T
n.572C>T
n.2335C>T
2g.219211055G>CCA431422385ABCB6,ATG9Ac.2022C>G (p.Val674=)
c.1884C>G (p.Val628=)
c.1565C>G
c.4694-232C>G
n.54C>G
n.572C>G
n.2335C>G
 dbSNP gnomAD v2 gnomAD v4
2g.219211055G=CA1329112057ABCB6,ATG9Ac.2022C= (p.Val674=)
c.1884C= (p.Val628=)
c.1565C=
c.4694-232C=
n.54C=
n.572C=
n.2335C=
2g.219211055G>TCA431422386ABCB6,ATG9Ac.2022C>A (p.Val674=)
c.1884C>A (p.Val628=)
c.1565C>A
c.4694-232C>A
n.54C>A
n.572C>A
n.2335C>A
2g.219211055_219211057delinsGACCA1329112056ABCB6,ATG9Ac.2020_2022delinsGTC (p.Val674=)
c.1882_1884delinsGTC (p.Val628=)
c.1563_1565delinsGTC
c.4694-234_4694-232delinsGTC
n.52_54delinsGTC
n.570_572delinsGTC
n.2333_2335delinsGTC
2g.219211056A=CA1329112058ABCB6,ATG9Ac.2021T= (p.Val674=)
c.1883T= (p.Val628=)
c.1564T=
c.4694-233T=
n.53T=
n.571T=
n.2334T=
2g.219211056A>CCA350684800ABCB6,ATG9Ac.2021T>G (p.Val674Gly)
c.1883T>G (p.Val628Gly)
c.1564T>G
c.4694-233T>G
n.53T>G
n.571T>G
n.2334T>G
2g.219211056A>GCA350684802ABCB6,ATG9Ac.2021T>C (p.Val674Ala)
c.1883T>C (p.Val628Ala)
c.1564T>C
c.4694-233T>C
n.53T>C
n.571T>C
n.2334T>C
 dbSNP gnomAD v3 gnomAD v4
2g.219211056A>TCA350684798ABCB6,ATG9Ac.2021T>A (p.Val674Asp)
c.1883T>A (p.Val628Asp)
c.1564T>A
c.4694-233T>A
n.53T>A
n.571T>A
n.2334T>A
2g.219211057_219211058delCA764955734ABCB6,ATG9Ac.2020_2021del (p.Val674ProfsTer3)
c.1882_1883del (p.Val628ProfsTer3)
c.1563_1564del
c.4694-234_4694-233del
n.52_53del
n.570_571del
n.2333_2334del
 dbSNP gnomAD v4
2g.219211057C>ACA350684803ABCB6,ATG9Ac.2020G>T (p.Val674Phe)
c.1882G>T (p.Val628Phe)
c.1563G>T
c.4694-234G>T
n.52G>T
n.570G>T
n.2333G>T
2g.219211057C=CA1329112059ABCB6,ATG9Ac.2020G= (p.Val674=)
c.1882G= (p.Val628=)
c.1563G=
c.4694-234G=
n.52G=
n.570G=
n.2333G=
2g.219211057C>GCA2119091ABCB6,ATG9Ac.2020G>C (p.Val674Leu)
c.1882G>C (p.Val628Leu)
c.1563G>C
c.4694-234G>C
n.52G>C
n.570G>C
n.2333G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211057C>TCA350684804ABCB6,ATG9Ac.2020G>A (p.Val674Ile)
c.1882G>A (p.Val628Ile)
c.1563G>A
c.4694-234G>A
n.52G>A
n.570G>A
n.2333G>A
2g.219211058A=CA1329112060ABCB6,ATG9Ac.2019T= (p.Thr673=)
c.1881T= (p.Thr627=)
c.1562T=
c.4694-235T=
n.51T=
n.569T=
n.2332T=
2g.219211058A>CCA431422393ABCB6,ATG9Ac.2019T>G (p.Thr673=)
c.1881T>G (p.Thr627=)
c.1562T>G
c.4694-235T>G
n.51T>G
n.569T>G
n.2332T>G
2g.219211058A>GCA2119092ABCB6,ATG9Ac.2019T>C (p.Thr673=)
c.1881T>C (p.Thr627=)
c.1562T>C
c.4694-235T>C
n.51T>C
n.569T>C
n.2332T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211058A>TCA431422392ABCB6,ATG9Ac.2019T>A (p.Thr673=)
c.1881T>A (p.Thr627=)
c.1562T>A
c.4694-235T>A
n.51T>A
n.569T>A
n.2332T>A
2g.219211058_219211060delinsAGTCA1329112061ABCB6,ATG9Ac.2017_2019delinsACT (p.Thr673=)
c.1879_1881delinsACT (p.Thr627=)
c.1560_1562delinsACT
c.4694-237_4694-235delinsACT
n.49_51delinsACT
n.567_569delinsACT
n.2330_2332delinsACT
2g.219211059G>ACA350684811ABCB6,ATG9Ac.2018C>T (p.Thr673Ile)
c.1880C>T (p.Thr627Ile)
c.1561C>T
c.4694-236C>T
n.50C>T
n.568C>T
n.2331C>T
2g.219211059G>CCA65999107ABCB6,ATG9Ac.2018C>G (p.Thr673Ser)
c.1880C>G (p.Thr627Ser)
c.1561C>G
c.4694-236C>G
n.50C>G
n.568C>G
n.2331C>G
 dbSNP
2g.219211059G=CA1329112062ABCB6,ATG9Ac.2018C= (p.Thr673=)
c.1880C= (p.Thr627=)
c.1561C=
c.4694-236C=
n.50C=
n.568C=
n.2331C=
2g.219211059G>TCA350684807ABCB6,ATG9Ac.2018C>A (p.Thr673Asn)
c.1880C>A (p.Thr627Asn)
c.1561C>A
c.4694-236C>A
n.50C>A
n.568C>A
n.2331C>A
 dbSNP gnomAD v2 gnomAD v4
2g.219211061_219211062delCA658776136ABCB6,ATG9Ac.2017_2018del (p.Thr673CysfsTer4)
c.1879_1880del (p.Thr627CysfsTer4)
c.1560_1561del
c.4694-237_4694-236del
n.49_50del
n.567_568del
n.2330_2331del
 dbSNP
2g.219211059_219211080delinsGTGTCTTGGGGCACAACTCCAACA1329112063ABCB6,ATG9Ac.1997_2018delinsTTGGAGTTGTGCCCCAAGACAC (p.Ile666=)
c.1859_1880delinsTTGGAGTTGTGCCCCAAGACAC (p.Ile620=)
c.1540_1561delinsTTGGAGTTGTGCCCCAAGACAC
c.4694-257_4694-236delinsTTGGAGTTGTGCCCCAAGACAC
n.29_50delinsTTGGAGTTGTGCCCCAAGACAC
n.547_568delinsTTGGAGTTGTGCCCCAAGACAC
n.2310_2331delinsTTGGAGTTGTGCCCCAAGACAC
2g.219211060T>ACA350684814ABCB6,ATG9Ac.2017A>T (p.Thr673Ser)
c.1879A>T (p.Thr627Ser)
c.1560A>T
c.4694-237A>T
n.49A>T
n.567A>T
n.2330A>T
2g.219211060T>CCA2119093ABCB6,ATG9Ac.2017A>G (p.Thr673Ala)
c.1879A>G (p.Thr627Ala)
c.1560A>G
c.4694-237A>G
n.49A>G
n.567A>G
n.2330A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219211060T>GCA350684818ABCB6,ATG9Ac.2017A>C (p.Thr673Pro)
c.1879A>C (p.Thr627Pro)
c.1560A>C
c.4694-237A>C
n.49A>C
n.567A>C
n.2330A>C
2g.219211060T=CA1329112064ABCB6,ATG9Ac.2017A= (p.Thr673=)
c.1879A= (p.Thr627=)
c.1560A=
c.4694-237A=
n.49A=
n.567A=
n.2330A=
2g.219211063_219211083delCA1042503913ABCB6,ATG9Ac.1997_2017del (p.Ile666_Asp672del)
c.1859_1879del (p.Ile620_Asp626del)
c.1540_1560del
c.4694-257_4694-237del
n.29_49del
n.547_567del
n.2310_2330del
 dbSNP gnomAD v3 gnomAD v4
2g.219211061G>ACA431422397ABCB6,ATG9Ac.2016C>T (p.Asp672=)
c.1878C>T (p.Asp626=)
c.1559C>T
c.4694-238C>T
n.48C>T
n.566C>T
n.2329C>T
2g.219211061G>CCA2119094ABCB6,ATG9Ac.2016C>G (p.Asp672Glu)
c.1878C>G (p.Asp626Glu)
c.1559C>G
c.4694-238C>G
n.48C>G
n.566C>G
n.2329C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211061G=CA1329112065ABCB6,ATG9Ac.2016C= (p.Asp672=)
c.1878C= (p.Asp626=)
c.1559C=
c.4694-238C=
n.48C=
n.566C=
n.2329C=
2g.219211061G>TCA350684827ABCB6,ATG9Ac.2016C>A (p.Asp672Glu)
c.1878C>A (p.Asp626Glu)
c.1559C>A
c.4694-238C>A
n.48C>A
n.566C>A
n.2329C>A
2g.219211062T>ACA350684830ABCB6,ATG9Ac.2015A>T (p.Asp672Val)
c.1877A>T (p.Asp626Val)
c.1558A>T
c.4694-239A>T
n.47A>T
n.565A>T
n.2328A>T
2g.219211062T>CCA350684832ABCB6,ATG9Ac.2015A>G (p.Asp672Gly)
c.1877A>G (p.Asp626Gly)
c.1558A>G
c.4694-239A>G
n.47A>G
n.565A>G
n.2328A>G
2g.219211062T>GCA350684834ABCB6,ATG9Ac.2015A>C (p.Asp672Ala)
c.1877A>C (p.Asp626Ala)
c.1558A>C
c.4694-239A>C
n.47A>C
n.565A>C
n.2328A>C
2g.219211063C>ACA350684835ABCB6,ATG9Ac.2014G>T (p.Asp672Tyr)
c.1876G>T (p.Asp626Tyr)
c.1557G>T
c.4694-240G>T
n.46G>T
n.564G>T
n.2327G>T
2g.219211063C=CA1329112066ABCB6,ATG9Ac.2014G= (p.Asp672=)
c.1876G= (p.Asp626=)
c.1557G=
c.4694-240G=
n.46G=
n.564G=
n.2327G=
2g.219211063C>GCA2119095ABCB6,ATG9Ac.2014G>C (p.Asp672His)
c.1876G>C (p.Asp626His)
c.1557G>C
c.4694-240G>C
n.46G>C
n.564G>C
n.2327G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211063C>TCA2119096ABCB6,ATG9Ac.2014G>A (p.Asp672Asn)
c.1876G>A (p.Asp626Asn)
c.1557G>A
c.4694-240G>A
n.46G>A
n.564G>A
n.2327G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211064T>ACA350684839ABCB6,ATG9Ac.2013A>T (p.Gln671His)
c.1875A>T (p.Gln625His)
c.1556A>T
c.4694-241A>T
n.45A>T
n.563A>T
n.2326A>T
2g.219211064T>CCA431422399ABCB6,ATG9Ac.2013A>G (p.Gln671=)
c.1875A>G (p.Gln625=)
c.1556A>G
c.4694-241A>G
n.45A>G
n.563A>G
n.2326A>G
2g.219211064T>GCA350684840ABCB6,ATG9Ac.2013A>C (p.Gln671His)
c.1875A>C (p.Gln625His)
c.1556A>C
c.4694-241A>C
n.45A>C
n.563A>C
n.2326A>C
 dbSNP
2g.219211064T=CA1329112067ABCB6,ATG9Ac.2013A= (p.Gln671=)
c.1875A= (p.Gln625=)
c.1556A=
c.4694-241A=
n.45A=
n.563A=
n.2326A=
2g.219211065T>ACA350684841ABCB6,ATG9Ac.2012A>T (p.Gln671Leu)
c.1874A>T (p.Gln625Leu)
c.1555A>T
c.4694-242A>T
n.44A>T
n.562A>T
n.2325A>T
2g.219211065T>CCA350684842ABCB6,ATG9Ac.2012A>G (p.Gln671Arg)
c.1874A>G (p.Gln625Arg)
c.1555A>G
c.4694-242A>G
n.44A>G
n.562A>G
n.2325A>G
 gnomAD v4
2g.219211065T>GCA350684843ABCB6,ATG9Ac.2012A>C (p.Gln671Pro)
c.1874A>C (p.Gln625Pro)
c.1555A>C
c.4694-242A>C
n.44A>C
n.562A>C
n.2325A>C
2g.219211066G>ACA350684844ABCB6,ATG9Ac.2011C>T (p.Gln671Ter)
c.1873C>T (p.Gln625Ter)
c.1554C>T
c.4694-243C>T
n.43C>T
n.561C>T
n.2324C>T
2g.219211066G>CCA350684848ABCB6,ATG9Ac.2011C>G (p.Gln671Glu)
c.1873C>G (p.Gln625Glu)
c.1554C>G
c.4694-243C>G
n.43C>G
n.561C>G
n.2324C>G
 gnomAD v4
2g.219211066G>TCA350684849ABCB6,ATG9Ac.2011C>A (p.Gln671Lys)
c.1873C>A (p.Gln625Lys)
c.1554C>A
c.4694-243C>A
n.43C>A
n.561C>A
n.2324C>A
2g.219211069dupCA645516272ABCB6,ATG9Ac.2011dup (p.Gln671ProfsTer7)
c.1873dup (p.Gln625ProfsTer7)
c.1554dup
c.4694-243dup
n.43dup
n.561dup
n.2324dup
 COSMIC COSMIC
2g.219211067G>ACA431422400ABCB6,ATG9Ac.2010C>T (p.Pro670=)
c.1872C>T (p.Pro624=)
c.1553C>T
c.4694-244C>T
n.42C>T
n.560C>T
n.2323C>T
2g.219211067G>CCA431422401ABCB6,ATG9Ac.2010C>G (p.Pro670=)
c.1872C>G (p.Pro624=)
c.1553C>G
c.4694-244C>G
n.42C>G
n.560C>G
n.2323C>G
 gnomAD v4 COSMIC COSMIC
2g.219211067G>TCA431422402ABCB6,ATG9Ac.2010C>A (p.Pro670=)
c.1872C>A (p.Pro624=)
c.1553C>A
c.4694-244C>A
n.42C>A
n.560C>A
n.2323C>A
2g.219211068G>ACA2119097ABCB6,ATG9Ac.2009C>T (p.Pro670Leu)
c.1871C>T (p.Pro624Leu)
c.1552C>T
c.4694-245C>T
n.41C>T
n.559C>T
n.2322C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211068G>CCA350684854ABCB6,ATG9Ac.2009C>G (p.Pro670Arg)
c.1871C>G (p.Pro624Arg)
c.1552C>G
c.4694-245C>G
n.41C>G
n.559C>G
n.2322C>G
2g.219211068G=CA1329112068ABCB6,ATG9Ac.2009C= (p.Pro670=)
c.1871C= (p.Pro624=)
c.1552C=
c.4694-245C=
n.41C=
n.559C=
n.2322C=
2g.219211068G>TCA350684858ABCB6,ATG9Ac.2009C>A (p.Pro670His)
c.1871C>A (p.Pro624His)
c.1552C>A
c.4694-245C>A
n.41C>A
n.559C>A
n.2322C>A
2g.219211069G>ACA350684865ABCB6,ATG9Ac.2008C>T (p.Pro670Ser)
c.1870C>T (p.Pro624Ser)
c.1551C>T
c.4694-246C>T
n.40C>T
n.558C>T
n.2321C>T
 gnomAD v4 COSMIC COSMIC
2g.219211069G>CCA350684868ABCB6,ATG9Ac.2008C>G (p.Pro670Ala)
c.1870C>G (p.Pro624Ala)
c.1551C>G
c.4694-246C>G
n.40C>G
n.558C>G
n.2321C>G
2g.219211069G>TCA350684871ABCB6,ATG9Ac.2008C>A (p.Pro670Thr)
c.1870C>A (p.Pro624Thr)
c.1551C>A
c.4694-246C>A
n.40C>A
n.558C>A
n.2321C>A
2g.219211070C>ACA431422403ABCB6,ATG9Ac.2007G>T (p.Val669=)
c.1869G>T (p.Val623=)
c.1550G>T
c.4694-247G>T
n.39G>T
n.557G>T
n.2320G>T
2g.219211070C>GCA431422404ABCB6,ATG9Ac.2007G>C (p.Val669=)
c.1869G>C (p.Val623=)
c.1550G>C
c.4694-247G>C
n.39G>C
n.557G>C
n.2320G>C
2g.219211070C>TCA431422405ABCB6,ATG9Ac.2007G>A (p.Val669=)
c.1869G>A (p.Val623=)
c.1550G>A
c.4694-247G>A
n.39G>A
n.557G>A
n.2320G>A
 gnomAD v4
2g.219211071A>CCA350684874ABCB6,ATG9Ac.2006T>G (p.Val669Gly)
c.1868T>G (p.Val623Gly)
c.1549T>G
c.4694-248T>G
n.38T>G
n.556T>G
n.2319T>G
2g.219211071A>GCA350684873ABCB6,ATG9Ac.2006T>C (p.Val669Ala)
c.1868T>C (p.Val623Ala)
c.1549T>C
c.4694-248T>C
n.38T>C
n.556T>C
n.2319T>C
2g.219211071A>TCA350684872ABCB6,ATG9Ac.2006T>A (p.Val669Glu)
c.1868T>A (p.Val623Glu)
c.1549T>A
c.4694-248T>A
n.38T>A
n.556T>A
n.2319T>A
2g.219211072C>ACA350684880ABCB6,ATG9Ac.2005G>T (p.Val669Leu)
c.1867G>T (p.Val623Leu)
c.1548G>T
c.4694-249G>T
n.37G>T
n.555G>T
n.2318G>T
2g.219211072C=CA1329112069ABCB6,ATG9Ac.2005G= (p.Val669=)
c.1867G= (p.Val623=)
c.1548G=
c.4694-249G=
n.37G=
n.555G=
n.2318G=
2g.219211072C>GCA350684875ABCB6,ATG9Ac.2005G>C (p.Val669Leu)
c.1867G>C (p.Val623Leu)
c.1548G>C
c.4694-249G>C
n.37G>C
n.555G>C
n.2318G>C
 dbSNP gnomAD v3 gnomAD v4
2g.219211072C>TCA350684877ABCB6,ATG9Ac.2005G>A (p.Val669Met)
c.1867G>A (p.Val623Met)
c.1548G>A
c.4694-249G>A
n.37G>A
n.555G>A
n.2318G>A
 dbSNP gnomAD v4
2g.219211073A=CA1329112070ABCB6,ATG9Ac.2004T= (p.Val668=)
c.1866T= (p.Val622=)
c.1547T=
c.4694-250T=
n.36T=
n.554T=
n.2317T=
2g.219211073A>CCA431422406ABCB6,ATG9Ac.2004T>G (p.Val668=)
c.1866T>G (p.Val622=)
c.1547T>G
c.4694-250T>G
n.36T>G
n.554T>G
n.2317T>G
 dbSNP gnomAD v4
2g.219211073A>GCA431422407ABCB6,ATG9Ac.2004T>C (p.Val668=)
c.1866T>C (p.Val622=)
c.1547T>C
c.4694-250T>C
n.36T>C
n.554T>C
n.2317T>C
 dbSNP gnomAD v4
2g.219211073A>TCA431422408ABCB6,ATG9Ac.2004T>A (p.Val668=)
c.1866T>A (p.Val622=)
c.1547T>A
c.4694-250T>A
n.36T>A
n.554T>A
n.2317T>A
2g.219211074A>CCA350684887ABCB6,ATG9Ac.2003T>G (p.Val668Gly)
c.1865T>G (p.Val622Gly)
c.1546T>G
c.4694-251T>G
n.35T>G
n.553T>G
n.2316T>G
2g.219211074A>GCA350684890ABCB6,ATG9Ac.2003T>C (p.Val668Ala)
c.1865T>C (p.Val622Ala)
c.1546T>C
c.4694-251T>C
n.35T>C
n.553T>C
n.2316T>C
2g.219211074A>TCA350684892ABCB6,ATG9Ac.2003T>A (p.Val668Asp)
c.1865T>A (p.Val622Asp)
c.1546T>A
c.4694-251T>A
n.35T>A
n.553T>A
n.2316T>A
2g.219211075C>ACA350684897ABCB6,ATG9Ac.2002G>T (p.Val668Phe)
c.1864G>T (p.Val622Phe)
c.1545G>T
c.4694-252G>T
n.34G>T
n.552G>T
n.2315G>T
 dbSNP
2g.219211075C=CA1329112071ABCB6,ATG9Ac.2002G= (p.Val668=)
c.1864G= (p.Val622=)
c.1545G=
c.4694-252G=
n.34G=
n.552G=
n.2315G=
2g.219211075C>GCA350684900ABCB6,ATG9Ac.2002G>C (p.Val668Leu)
c.1864G>C (p.Val622Leu)
c.1545G>C
c.4694-252G>C
n.34G>C
n.552G>C
n.2315G>C
2g.219211075C>TCA2119098ABCB6,ATG9Ac.2002G>A (p.Val668Ile)
c.1864G>A (p.Val622Ile)
c.1545G>A
c.4694-252G>A
n.34G>A
n.552G>A
n.2315G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211076T>ACA431422410ABCB6,ATG9Ac.2001A>T (p.Gly667=)
c.1863A>T (p.Gly621=)
c.1544A>T
c.4694-253A>T
n.33A>T
n.551A>T
n.2314A>T
2g.219211076T>CCA431422411ABCB6,ATG9Ac.2001A>G (p.Gly667=)
c.1863A>G (p.Gly621=)
c.1544A>G
c.4694-253A>G
n.33A>G
n.551A>G
n.2314A>G
2g.219211076T>GCA431422412ABCB6,ATG9Ac.2001A>C (p.Gly667=)
c.1863A>C (p.Gly621=)
c.1544A>C
c.4694-253A>C
n.33A>C
n.551A>C
n.2314A>C
2g.219211076T=CA1329112072ABCB6,ATG9Ac.2001A= (p.Gly667=)
c.1863A= (p.Gly621=)
c.1544A=
c.4694-253A=
n.33A=
n.551A=
n.2314A=
2g.219211077C>ACA350684906ABCB6,ATG9Ac.2000G>T (p.Gly667Val)
c.1862G>T (p.Gly621Val)
c.1543G>T
c.4694-254G>T
n.32G>T
n.550G>T
n.2313G>T
 COSMIC COSMIC
2g.219211077C=CA1329112074ABCB6,ATG9Ac.2000G= (p.Gly667=)
c.1862G= (p.Gly621=)
c.1543G=
c.4694-254G=
n.32G=
n.550G=
n.2313G=
2g.219211077C>GCA350684908ABCB6,ATG9Ac.2000G>C (p.Gly667Ala)
c.1862G>C (p.Gly621Ala)
c.1543G>C
c.4694-254G>C
n.32G>C
n.550G>C
n.2313G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219211077C>TCA350684914ABCB6,ATG9Ac.2000G>A (p.Gly667Glu)
c.1862G>A (p.Gly621Glu)
c.1543G>A
c.4694-254G>A
n.32G>A
n.550G>A
n.2313G>A
2g.219211077_219211078delinsCCCA1329112073ABCB6,ATG9Ac.1999_2000delinsGG (p.Gly667=)
c.1861_1862delinsGG (p.Gly621=)
c.1542_1543delinsGG
c.4694-255_4694-254delinsGG
n.31_32delinsGG
n.549_550delinsGG
n.2312_2313delinsGG
2g.219211077_219211078delinsTTCA65999190ABCB6,ATG9Ac.1999_2000delinsAA (p.Gly667Lys)
c.1861_1862delinsAA (p.Gly621Lys)
c.1542_1543delinsAA
c.4694-255_4694-254delinsAA
n.31_32delinsAA
n.549_550delinsAA
n.2312_2313delinsAA
 dbSNP
2g.219211078dupCA2119099ABCB6,ATG9Ac.2000dup (p.Val668SerfsTer10)
c.1862dup (p.Val622SerfsTer10)
c.1543dup
c.4694-254dup
n.32dup
n.550dup
n.2313dup
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211078C>ACA350684932ABCB6,ATG9Ac.1999G>T (p.Gly667Ter)
c.1861G>T (p.Gly621Ter)
c.1542G>T
c.4694-255G>T
n.31G>T
n.549G>T
n.2312G>T
2g.219211078C=CA1329112075ABCB6,ATG9Ac.1999G= (p.Gly667=)
c.1861G= (p.Gly621=)
c.1542G=
c.4694-255G=
n.31G=
n.549G=
n.2312G=
2g.219211078C>GCA2119100ABCB6,ATG9Ac.1999G>C (p.Gly667Arg)
c.1861G>C (p.Gly621Arg)
c.1542G>C
c.4694-255G>C
n.31G>C
n.549G>C
n.2312G>C
 dbSNP ExAC gnomAD v2
2g.219211078C>TCA350684916ABCB6,ATG9Ac.1999G>A (p.Gly667Arg)
c.1861G>A (p.Gly621Arg)
c.1542G>A
c.4694-255G>A
n.31G>A
n.549G>A
n.2312G>A
2g.219211079A=CA1329112076ABCB6,ATG9Ac.1998T= (p.Ile666=)
c.1860T= (p.Ile620=)
c.1541T=
c.4694-256T=
n.30T=
n.548T=
n.2311T=
2g.219211079A>CCA2119101ABCB6,ATG9Ac.1998T>G (p.Ile666Met)
c.1860T>G (p.Ile620Met)
c.1541T>G
c.4694-256T>G
n.30T>G
n.548T>G
n.2311T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211079A>GCA431422414ABCB6,ATG9Ac.1998T>C (p.Ile666=)
c.1860T>C (p.Ile620=)
c.1541T>C
c.4694-256T>C
n.30T>C
n.548T>C
n.2311T>C
2g.219211079A>TCA431422415ABCB6,ATG9Ac.1998T>A (p.Ile666=)
c.1860T>A (p.Ile620=)
c.1541T>A
c.4694-256T>A
n.30T>A
n.548T>A
n.2311T>A
2g.219211080A=CA1329112077ABCB6,ATG9Ac.1997T= (p.Ile666=)
c.1859T= (p.Ile620=)
c.1540T=
c.4694-257T=
n.29T=
n.547T=
n.2310T=
2g.219211080A>CCA350684937ABCB6,ATG9Ac.1997T>G (p.Ile666Ser)
c.1859T>G (p.Ile620Ser)
c.1540T>G
c.4694-257T>G
n.29T>G
n.547T>G
n.2310T>G
2g.219211080A>GCA350684939ABCB6,ATG9Ac.1997T>C (p.Ile666Thr)
c.1859T>C (p.Ile620Thr)
c.1540T>C
c.4694-257T>C
n.29T>C
n.547T>C
n.2310T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219211080A>TCA350684941ABCB6,ATG9Ac.1997T>A (p.Ile666Asn)
c.1859T>A (p.Ile620Asn)
c.1540T>A
c.4694-257T>A
n.29T>A
n.547T>A
n.2310T>A
2g.219211081T>ACA350684949ABCB6,ATG9Ac.1996A>T (p.Ile666Phe)
c.1858A>T (p.Ile620Phe)
c.1539A>T
c.4694-258A>T
n.28A>T
n.546A>T
n.2309A>T
2g.219211081T>CCA350684951ABCB6,ATG9Ac.1996A>G (p.Ile666Val)
c.1858A>G (p.Ile620Val)
c.1539A>G
c.4694-258A>G
n.28A>G
n.546A>G
n.2309A>G
2g.219211081T>GCA350684953ABCB6,ATG9Ac.1996A>C (p.Ile666Leu)
c.1858A>C (p.Ile620Leu)
c.1539A>C
c.4694-258A>C
n.28A>C
n.546A>C
n.2309A>C
2g.219211082G>ACA2119102ABCB6,ATG9Ac.1995C>T (p.His665=)
c.1857C>T (p.His619=)
c.1538C>T
c.4694-259C>T
n.27C>T
n.545C>T
n.2308C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211082G>CCA350684956ABCB6,ATG9Ac.1995C>G (p.His665Gln)
c.1857C>G (p.His619Gln)
c.1538C>G
c.4694-259C>G
n.27C>G
n.545C>G
n.2308C>G
2g.219211082G=CA1329112078ABCB6,ATG9Ac.1995C= (p.His665=)
c.1857C= (p.His619=)
c.1538C=
c.4694-259C=
n.27C=
n.545C=
n.2308C=
2g.219211082G>TCA350684958ABCB6,ATG9Ac.1995C>A (p.His665Gln)
c.1857C>A (p.His619Gln)
c.1538C>A
c.4694-259C>A
n.27C>A
n.545C>A
n.2308C>A
2g.219211083T>ACA350684961ABCB6,ATG9Ac.1994A>T (p.His665Leu)
c.1856A>T (p.His619Leu)
c.1537A>T
c.4694-260A>T
n.26A>T
n.544A>T
n.2307A>T
2g.219211083T>CCA350684965ABCB6,ATG9Ac.1994A>G (p.His665Arg)
c.1856A>G (p.His619Arg)
c.1537A>G
c.4694-260A>G
n.26A>G
n.544A>G
n.2307A>G
2g.219211083T>GCA2119103ABCB6,ATG9Ac.1994A>C (p.His665Pro)
c.1856A>C (p.His619Pro)
c.1537A>C
c.4694-260A>C
n.26A>C
n.544A>C
n.2307A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211083T=CA1329112079ABCB6,ATG9Ac.1994A= (p.His665=)
c.1856A= (p.His619=)
c.1537A=
c.4694-260A=
n.26A=
n.544A=
n.2307A=
2g.219211084G>ACA350684973ABCB6,ATG9Ac.1993C>T (p.His665Tyr)
c.1855C>T (p.His619Tyr)
c.1536C>T
c.4694-261C>T
n.25C>T
n.543C>T
n.2306C>T
2g.219211084G>CCA350684977ABCB6,ATG9Ac.1993C>G (p.His665Asp)
c.1855C>G (p.His619Asp)
c.1536C>G
c.4694-261C>G
n.25C>G
n.543C>G
n.2306C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219211084G=CA1329112080ABCB6,ATG9Ac.1993C= (p.His665=)
c.1855C= (p.His619=)
c.1536C=
c.4694-261C=
n.25C=
n.543C=
n.2306C=
2g.219211084G>TCA350684969ABCB6,ATG9Ac.1993C>A (p.His665Asn)
c.1855C>A (p.His619Asn)
c.1536C>A
c.4694-261C>A
n.25C>A
n.543C>A
n.2306C>A
2g.219211085A>CCA431422416ABCB6,ATG9Ac.1992T>G (p.Ser664=)
c.1854T>G (p.Ser618=)
c.1535T>G
c.4694-262T>G
n.24T>G
n.542T>G
n.2305T>G
2g.219211085A>GCA431422417ABCB6,ATG9Ac.1992T>C (p.Ser664=)
c.1854T>C (p.Ser618=)
c.1535T>C
c.4694-262T>C
n.24T>C
n.542T>C
n.2305T>C
2g.219211085A>TCA431422418ABCB6,ATG9Ac.1992T>A (p.Ser664=)
c.1854T>A (p.Ser618=)
c.1535T>A
c.4694-262T>A
n.24T>A
n.542T>A
n.2305T>A
 COSMIC COSMIC
2g.219211086G>ACA350684980ABCB6,ATG9Ac.1991C>T (p.Ser664Phe)
c.1853C>T (p.Ser618Phe)
c.1534C>T
c.4694-263C>T
n.23C>T
n.541C>T
n.2304C>T
2g.219211086G>CCA350684983ABCB6,ATG9Ac.1991C>G (p.Ser664Cys)
c.1853C>G (p.Ser618Cys)
c.1534C>G
c.4694-263C>G
n.23C>G
n.541C>G
n.2304C>G
2g.219211086G>TCA350684981ABCB6,ATG9Ac.1991C>A (p.Ser664Tyr)
c.1853C>A (p.Ser618Tyr)
c.1534C>A
c.4694-263C>A
n.23C>A
n.541C>A
n.2304C>A
2g.219211087A>CCA350684990ABCB6,ATG9Ac.1990T>G (p.Ser664Ala)
c.1852T>G (p.Ser618Ala)
c.1533T>G
c.4694-264T>G
n.22T>G
n.540T>G
n.2303T>G
2g.219211087A>GCA350684993ABCB6,ATG9Ac.1990T>C (p.Ser664Pro)
c.1852T>C (p.Ser618Pro)
c.1533T>C
c.4694-264T>C
n.22T>C
n.540T>C
n.2303T>C
 gnomAD v4
2g.219211087A>TCA350684995ABCB6,ATG9Ac.1990T>A (p.Ser664Thr)
c.1852T>A (p.Ser618Thr)
c.1533T>A
c.4694-264T>A
n.22T>A
n.540T>A
n.2303T>A
2g.219211088C>ACA431422420ABCB6,ATG9Ac.1989G>T (p.Arg663=)
c.1851G>T (p.Arg617=)
c.1532G>T
c.4694-265G>T
n.21G>T
n.539G>T
n.2302G>T
2g.219211088C=CA1329112081ABCB6,ATG9Ac.1989G= (p.Arg663=)
c.1851G= (p.Arg617=)
c.1532G=
c.4694-265G=
n.21G=
n.539G=
n.2302G=
2g.219211088C>GCA431422421ABCB6,ATG9Ac.1989G>C (p.Arg663=)
c.1851G>C (p.Arg617=)
c.1532G>C
c.4694-265G>C
n.21G>C
n.539G>C
n.2302G>C
2g.219211088C>TCA431422423ABCB6,ATG9Ac.1989G>A (p.Arg663=)
c.1851G>A (p.Arg617=)
c.1532G>A
c.4694-265G>A
n.21G>A
n.539G>A
n.2302G>A
 dbSNP gnomAD v2 gnomAD v4
2g.219211089C>ACA350684996ABCB6,ATG9Ac.1988G>T (p.Arg663Leu)
c.1850G>T (p.Arg617Leu)
c.1531G>T
c.4694-266G>T
n.20G>T
n.538G>T
n.2301G>T
 dbSNP gnomAD v4
2g.219211089C=CA1329112082ABCB6,ATG9Ac.1988G= (p.Arg663=)
c.1850G= (p.Arg617=)
c.1531G=
c.4694-266G=
n.20G=
n.538G=
n.2301G=
2g.219211089C>GCA350684999ABCB6,ATG9Ac.1988G>C (p.Arg663Pro)
c.1850G>C (p.Arg617Pro)
c.1531G>C
c.4694-266G>C
n.20G>C
n.538G>C
n.2301G>C
2g.219211089C>TCA2119104ABCB6,ATG9Ac.1988G>A (p.Arg663Gln)
c.1850G>A (p.Arg617Gln)
c.1531G>A
c.4694-266G>A
n.20G>A
n.538G>A
n.2301G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211090G>ACA350685003ABCB6,ATG9Ac.1987C>T (p.Arg663Trp)
c.1849C>T (p.Arg617Trp)
c.1530C>T
c.4694-267C>T
n.19C>T
n.537C>T
n.2300C>T
 dbSNP gnomAD v4 COSMIC
2g.219211090G>CCA350685005ABCB6,ATG9Ac.1987C>G (p.Arg663Gly)
c.1849C>G (p.Arg617Gly)
c.1530C>G
c.4694-267C>G
n.19C>G
n.537C>G
n.2300C>G
2g.219211090G=CA1329112084ABCB6,ATG9Ac.1987C= (p.Arg663=)
c.1849C= (p.Arg617=)
c.1530C=
c.4694-267C=
n.19C=
n.537C=
n.2300C=
2g.219211090G>TCA431422426ABCB6,ATG9Ac.1987C>A (p.Arg663=)
c.1849C>A (p.Arg617=)
c.1530C>A
c.4694-267C>A
n.19C>A
n.537C>A
n.2300C>A
 dbSNP gnomAD v4
2g.219211090_219211092delinsGGACA1329112083ABCB6,ATG9Ac.1985_1987delinsTCC (p.Leu662=)
c.1847_1849delinsTCC (p.Leu616=)
c.1528_1530delinsTCC
c.4694-269_4694-267delinsTCC
n.17_19delinsTCC
n.535_537delinsTCC
n.2298_2300delinsTCC
2g.219211091G>ACA431422428ABCB6,ATG9Ac.1986C>T (p.Leu662=)
c.1848C>T (p.Leu616=)
c.1529C>T
c.4694-268C>T
n.18C>T
n.536C>T
n.2299C>T
 dbSNP gnomAD v4
2g.219211091G>CCA431422430ABCB6,ATG9Ac.1986C>G (p.Leu662=)
c.1848C>G (p.Leu616=)
c.1529C>G
c.4694-268C>G
n.18C>G
n.536C>G
n.2299C>G
2g.219211091G=CA1329112085ABCB6,ATG9Ac.1986C= (p.Leu662=)
c.1848C= (p.Leu616=)
c.1529C=
c.4694-268C=
n.18C=
n.536C=
n.2299C=
2g.219211091G>TCA431422431ABCB6,ATG9Ac.1986C>A (p.Leu662=)
c.1848C>A (p.Leu616=)
c.1529C>A
c.4694-268C>A
n.18C>A
n.536C>A
n.2299C>A
2g.219211096_219211097delCA129260ABCB6,ATG9Ac.1985_1986del (p.Leu662ProfsTer15)
c.1847_1848del (p.Leu616ProfsTer15)
c.1528_1529del
c.4694-269_4694-268del
n.17_18del
n.535_536del
n.2298_2299del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211092A>CCA350685022ABCB6,ATG9Ac.1985T>G (p.Leu662Arg)
c.1847T>G (p.Leu616Arg)
c.1528T>G
c.4694-269T>G
n.17T>G
n.535T>G
n.2298T>G
2g.219211092A>GCA350685025ABCB6,ATG9Ac.1985T>C (p.Leu662Pro)
c.1847T>C (p.Leu616Pro)
c.1528T>C
c.4694-269T>C
n.17T>C
n.535T>C
n.2298T>C
 gnomAD v4 COSMIC
2g.219211092A>TCA350685029ABCB6,ATG9Ac.1985T>A (p.Leu662His)
c.1847T>A (p.Leu616His)
c.1528T>A
c.4694-269T>A
n.17T>A
n.535T>A
n.2298T>A
2g.219211093G>ACA350685031ABCB6,ATG9Ac.1984C>T (p.Leu662Phe)
c.1846C>T (p.Leu616Phe)
c.1527C>T
c.4694-270C>T
n.16C>T
n.534C>T
n.2297C>T
2g.219211093G>CCA350685034ABCB6,ATG9Ac.1984C>G (p.Leu662Val)
c.1846C>G (p.Leu616Val)
c.1527C>G
c.4694-270C>G
n.16C>G
n.534C>G
n.2297C>G
2g.219211093G>TCA350685035ABCB6,ATG9Ac.1984C>A (p.Leu662Ile)
c.1846C>A (p.Leu616Ile)
c.1527C>A
c.4694-270C>A
n.16C>A
n.534C>A
n.2297C>A
2g.219211094A>CCA431422433ABCB6,ATG9Ac.1983T>G (p.Ser661=)
c.1845T>G (p.Ser615=)
c.1526T>G
c.4694-271T>G
n.15T>G
n.533T>G
n.2296T>G
2g.219211094A>GCA431422435ABCB6,ATG9Ac.1983T>C (p.Ser661=)
c.1845T>C (p.Ser615=)
c.1526T>C
c.4694-271T>C
n.15T>C
n.533T>C
n.2296T>C
2g.219211094A>TCA431422432ABCB6,ATG9Ac.1983T>A (p.Ser661=)
c.1845T>A (p.Ser615=)
c.1526T>A
c.4694-271T>A
n.15T>A
n.533T>A
n.2296T>A
2g.219211095delCA2754319564ABCB6,ATG9Ac.1982del (p.Ser661PhefsTer?)
c.1844del (p.Ser615PhefsTer?)
c.1525del
c.4694-272del
n.14del
n.532del
n.2295del
2g.219211095G>ACA350685039ABCB6,ATG9Ac.1982C>T (p.Ser661Phe)
c.1844C>T (p.Ser615Phe)
c.1525C>T
c.4694-272C>T
n.14C>T
n.532C>T
n.2295C>T
2g.219211095G>CCA350685044ABCB6,ATG9Ac.1982C>G (p.Ser661Cys)
c.1844C>G (p.Ser615Cys)
c.1525C>G
c.4694-272C>G
n.14C>G
n.532C>G
n.2295C>G
2g.219211095G>TCA350685048ABCB6,ATG9Ac.1982C>A (p.Ser661Tyr)
c.1844C>A (p.Ser615Tyr)
c.1525C>A
c.4694-272C>A
n.14C>A
n.532C>A
n.2295C>A
2g.219211096A=CA1329112086ABCB6,ATG9Ac.1981T= (p.Ser661=)
c.1843T= (p.Ser615=)
c.1524T=
c.4694-273T=
n.13T=
n.531T=
n.2294T=
2g.219211096A>CCA350685051ABCB6,ATG9Ac.1981T>G (p.Ser661Ala)
c.1843T>G (p.Ser615Ala)
c.1524T>G
c.4694-273T>G
n.13T>G
n.531T>G
n.2294T>G
2g.219211096A>GCA350685054ABCB6,ATG9Ac.1981T>C (p.Ser661Pro)
c.1843T>C (p.Ser615Pro)
c.1524T>C
c.4694-273T>C
n.13T>C
n.531T>C
n.2294T>C
 dbSNP gnomAD v2 gnomAD v4
2g.219211096A>TCA350685057ABCB6,ATG9Ac.1981T>A (p.Ser661Thr)
c.1843T>A (p.Ser615Thr)
c.1524T>A
c.4694-273T>A
n.13T>A
n.531T>A
n.2294T>A
2g.219211097G>ACA2119106ABCB6,ATG9Ac.1980C>T (p.Ala660=)
c.1842C>T (p.Ala614=)
c.1523C>T
c.4694-274C>T
n.12C>T
n.530C>T
n.2293C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211097G>CCA2119105ABCB6,ATG9Ac.1980C>G (p.Ala660=)
c.1842C>G (p.Ala614=)
c.1523C>G
c.4694-274C>G
n.12C>G
n.530C>G
n.2293C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219211097G=CA1329112087ABCB6,ATG9Ac.1980C= (p.Ala660=)
c.1842C= (p.Ala614=)
c.1523C=
c.4694-274C=
n.12C=
n.530C=
n.2293C=
2g.219211097G>TCA431422436ABCB6,ATG9Ac.1980C>A (p.Ala660=)
c.1842C>A (p.Ala614=)
c.1523C>A
c.4694-274C>A
n.12C>A
n.530C>A
n.2293C>A
2g.219211098G>ACA2119107ABCB6,ATG9Ac.1979C>T (p.Ala660Val)
c.1841C>T (p.Ala614Val)
c.1522C>T
c.4694-275C>T
n.11C>T
n.529C>T
n.2292C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211098G>CCA350685103ABCB6,ATG9Ac.1979C>G (p.Ala660Gly)
c.1841C>G (p.Ala614Gly)
c.1522C>G
c.4694-275C>G
n.11C>G
n.529C>G
n.2292C>G
2g.219211098G=CA1329112088ABCB6,ATG9Ac.1979C= (p.Ala660=)
c.1841C= (p.Ala614=)
c.1522C=
c.4694-275C=
n.11C=
n.529C=
n.2292C=
2g.219211098G>TCA2119108ABCB6,ATG9Ac.1979C>A (p.Ala660Asp)
c.1841C>A (p.Ala614Asp)
c.1522C>A
c.4694-275C>A
n.11C>A
n.529C>A
n.2292C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219211099C>ACA350685104ABCB6,ATG9Ac.1978G>T (p.Ala660Ser)
c.1840G>T (p.Ala614Ser)
c.1521G>T
c.4694-276G>T
n.10G>T
n.528G>T
n.2291G>T
2g.219211099C=CA1329112089ABCB6,ATG9Ac.1978G= (p.Ala660=)
c.1840G= (p.Ala614=)
c.1521G=
c.4694-276G=
n.10G=
n.528G=
n.2291G=
2g.219211099C>GCA350685105ABCB6,ATG9Ac.1978G>C (p.Ala660Pro)
c.1840G>C (p.Ala614Pro)
c.1521G>C
c.4694-276G>C
n.10G>C
n.528G>C
n.2291G>C
2g.219211099C>TCA350685106ABCB6,ATG9Ac.1978G>A (p.Ala660Thr)
c.1840G>A (p.Ala614Thr)
c.1521G>A
c.4694-276G>A
n.10G>A
n.528G>A
n.2291G>A
 dbSNP gnomAD v3 gnomAD v4
2g.219211100C>ACA350685108ABCB6,ATG9Ac.1977G>T (p.Gln659His)
c.1839G>T (p.Gln613His)
c.1520G>T
c.4694-277G>T
n.9G>T
n.527G>T
n.2290G>T
2g.219211100C>GCA350685110ABCB6,ATG9Ac.1977G>C (p.Gln659His)
c.1839G>C (p.Gln613His)
c.1520G>C
c.4694-277G>C
n.9G>C
n.527G>C
n.2290G>C
2g.219211100C>TCA431422437ABCB6,ATG9Ac.1977G>A (p.Gln659=)
c.1839G>A (p.Gln613=)
c.1520G>A
c.4694-277G>A
n.9G>A
n.527G>A
n.2290G>A
2g.219211101T>ACA350685127ABCB6,ATG9Ac.1976A>T (p.Gln659Leu)
c.1838A>T (p.Gln613Leu)
c.1519A>T
c.4694-278A>T
n.8A>T
n.526A>T
n.2289A>T
2g.219211101T>CCA350685116ABCB6,ATG9Ac.1976A>G (p.Gln659Arg)
c.1838A>G (p.Gln613Arg)
c.1519A>G
c.4694-278A>G
n.8A>G
n.526A>G
n.2289A>G
2g.219211101T>GCA350685115ABCB6,ATG9Ac.1976A>C (p.Gln659Pro)
c.1838A>C (p.Gln613Pro)
c.1519A>C
c.4694-278A>C
n.8A>C
n.526A>C
n.2289A>C
2g.219211102G>ACA2119109ABCB6,ATG9Ac.1975C>T (p.Gln659Ter)
c.1837C>T (p.Gln613Ter)
c.1518C>T
c.4694-279C>T
n.7C>T
n.525C>T
n.2288C>T
 dbSNP ExAC gnomAD v2
2g.219211102G>CCA350685134ABCB6,ATG9Ac.1975C>G (p.Gln659Glu)
c.1837C>G (p.Gln613Glu)
c.1518C>G
c.4694-279C>G
n.7C>G
n.525C>G
n.2288C>G
2g.219211102G=CA1329112090ABCB6,ATG9Ac.1975C= (p.Gln659=)
c.1837C= (p.Gln613=)
c.1518C=
c.4694-279C=
n.7C=
n.525C=
n.2288C=
2g.219211102G>TCA350685136ABCB6,ATG9Ac.1975C>A (p.Gln659Lys)
c.1837C>A (p.Gln613Lys)
c.1518C>A
c.4694-279C>A
n.7C>A
n.525C>A
n.2288C>A
2g.219211103G>ACA431422438ABCB6,ATG9Ac.1974C>T (p.Thr658=)
c.1836C>T (p.Thr612=)
c.1517C>T
c.4694-280C>T
n.6C>T
n.524C>T
n.2287C>T
 gnomAD v4
2g.219211103G>CCA431422439ABCB6,ATG9Ac.1974C>G (p.Thr658=)
c.1836C>G (p.Thr612=)
c.1517C>G
c.4694-280C>G
n.6C>G
n.524C>G
n.2287C>G
2g.219211103G>TCA431422441ABCB6,ATG9Ac.1974C>A (p.Thr658=)
c.1836C>A (p.Thr612=)
c.1517C>A
c.4694-280C>A
n.6C>A
n.524C>A
n.2287C>A
2g.219211104G>ACA350685138ABCB6,ATG9Ac.1973C>T (p.Thr658Ile)
c.1835C>T (p.Thr612Ile)
c.1516C>T
c.4694-281C>T
n.5C>T
n.523C>T
n.2286C>T
2g.219211104G>CCA350685140ABCB6,ATG9Ac.1973C>G (p.Thr658Ser)
c.1835C>G (p.Thr612Ser)
c.1516C>G
c.4694-281C>G
n.5C>G
n.523C>G
n.2286C>G
2g.219211104G>TCA350685144ABCB6,ATG9Ac.1973C>A (p.Thr658Asn)
c.1835C>A (p.Thr612Asn)
c.1516C>A
c.4694-281C>A
n.5C>A
n.523C>A
n.2286C>A
2g.219211105T>ACA350685149ABCB6,ATG9Ac.1972A>T (p.Thr658Ser)
c.1834A>T (p.Thr612Ser)
c.1515A>T
c.4694-282A>T
n.4A>T
n.522A>T
n.2285A>T
2g.219211105T>CCA350685152ABCB6,ATG9Ac.1972A>G (p.Thr658Ala)
c.1834A>G (p.Thr612Ala)
c.1515A>G
c.4694-282A>G
n.4A>G
n.522A>G
n.2285A>G
2g.219211105T>GCA350685151ABCB6,ATG9Ac.1972A>C (p.Thr658Pro)
c.1834A>C (p.Thr612Pro)
c.1515A>C
c.4694-282A>C
n.4A>C
n.522A>C
n.2285A>C
2g.219211106C>ACA431422444ABCB6,ATG9Ac.1971G>T (p.Val657=)
c.1833G>T (p.Val611=)
c.1514G>T
c.4694-283G>T
n.3G>T
n.521G>T
n.2284G>T
 gnomAD v4
2g.219211106C>GCA431422446ABCB6,ATG9Ac.1971G>C (p.Val657=)
c.1833G>C (p.Val611=)
c.1514G>C
c.4694-283G>C
n.3G>C
n.521G>C
n.2284G>C
2g.219211106C>TCA431422445ABCB6,ATG9Ac.1971G>A (p.Val657=)
c.1833G>A (p.Val611=)
c.1514G>A
c.4694-283G>A
n.3G>A
n.521G>A
n.2284G>A
 gnomAD v4
2g.219211107A>CCA350685155ABCB6,ATG9Ac.1970T>G (p.Val657Gly)
c.1832T>G (p.Val611Gly)
c.1513T>G
c.4694-284T>G
n.2T>G
n.520T>G
n.2283T>G
2g.219211107A>GCA350685171ABCB6,ATG9Ac.1970T>C (p.Val657Ala)
c.1832T>C (p.Val611Ala)
c.1513T>C
c.4694-284T>C
n.2T>C
n.520T>C
n.2283T>C
2g.219211107A>TCA350685172ABCB6,ATG9Ac.1970T>A (p.Val657Glu)
c.1832T>A (p.Val611Glu)
c.1513T>A
c.4694-284T>A
n.2T>A
n.520T>A
n.2283T>A
2g.219211108C>ACA350685173ABCB6,ATG9Ac.1969G>T (p.Val657Leu)
c.1831G>T (p.Val611Leu)
c.1512G>T
c.4694-285G>T
n.1G>T
n.519G>T
n.2282G>T
2g.219211108C>GCA350685174ABCB6,ATG9Ac.1969G>C (p.Val657Leu)
c.1831G>C (p.Val611Leu)
c.1512G>C
c.4694-285G>C
n.1G>C
n.519G>C
n.2282G>C
 gnomAD v4
2g.219211108C>TCA350685175ABCB6,ATG9Ac.1969G>A (p.Val657Met)
c.1831G>A (p.Val611Met)
c.1512G>A
c.4694-285G>A
n.1G>A
n.519G>A
n.2282G>A
2g.219211109C>ACA350685177ABCB6,ATG9Ac.1969-1G>T (n.1969-1G>T)
c.1831-1G>T (n.1831-1G>T)
c.1512-1G>T
c.4694-286G>T
n.519-1G>T
n.2282-1G>T
 COSMIC COSMIC
2g.219211109C=CA1329112091ABCB6,ATG9Ac.1969-1G= (n.1969-1G=)
c.1831-1G= (n.1831-1G=)
c.1512-1G=
c.4694-286G=
n.519-1G=
n.2282-1G=
2g.219211109C>GCA350685178ABCB6,ATG9Ac.1969-1G>C (n.1969-1G>C)
c.1831-1G>C (n.1831-1G>C)
c.1512-1G>C
c.4694-286G>C
n.519-1G>C
n.2282-1G>C
2g.219211109C>TCA350685180ABCB6,ATG9Ac.1969-1G>A (n.1969-1G>A)
c.1831-1G>A (n.1831-1G>A)
c.1512-1G>A
c.4694-286G>A
n.519-1G>A
n.2282-1G>A
 dbSNP

Number of alleles fetched