Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43877793_43877806delinsGCTGGACTCGTACCCA2493965132ABCG8c.1902_1915delinsGCTGGACTCGTACC (p.Glu634=)
c.1899_1912delinsGCTGGACTCGTACC (p.Glu633=)
c.1914_1927delinsGCTGGACTCGTACC (p.Glu638=)
c.1911_1924delinsGCTGGACTCGTACC (p.Glu637=)
c.1686_1699delinsGCTGGACTCGTACC (p.Glu562=)
n.2404_2417delinsGCTGGACTCGTACC
n.2418_2431delinsGCTGGACTCGTACC
2g.43877796_43877808delCA1637718ABCG8c.1905_1917del (p.Asp636SerfsTer23)
c.1902_1914del (p.Asp635SerfsTer23)
c.1917_1929del (p.Asp640SerfsTer23)
c.1914_1926del (p.Asp639SerfsTer23)
c.1689_1701del (p.Asp564SerfsTer23)
n.2407_2419del
n.2421_2433del
 dbSNP ExAC gnomAD v2
2g.43877799C>ACA346671226ABCG8c.1908C>A (p.Asp636Glu)
c.1905C>A (p.Asp635Glu)
c.1920C>A (p.Asp640Glu)
c.1917C>A (p.Asp639Glu)
c.1692C>A (p.Asp564Glu)
n.2410C>A
n.2424C>A
2g.43877799C=CA2493965136ABCG8c.1908C= (p.Asp636=)
c.1905C= (p.Asp635=)
c.1920C= (p.Asp640=)
c.1917C= (p.Asp639=)
c.1692C= (p.Asp564=)
n.2410C=
n.2424C=
2g.43877799C>GCA1637721ABCG8c.1908C>G (p.Asp636Glu)
c.1905C>G (p.Asp635Glu)
c.1920C>G (p.Asp640Glu)
c.1917C>G (p.Asp639Glu)
c.1692C>G (p.Asp564Glu)
n.2410C>G
n.2424C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877799C>TCA425908293ABCG8c.1908C>T (p.Asp636=)
c.1905C>T (p.Asp635=)
c.1920C>T (p.Asp640=)
c.1917C>T (p.Asp639=)
c.1692C>T (p.Asp564=)
n.2410C>T
n.2424C>T
 dbSNP gnomAD v4
2g.43877800T>ACA346671229ABCG8c.1909T>A (p.Ser637Thr)
c.1906T>A (p.Ser636Thr)
c.1921T>A (p.Ser641Thr)
c.1918T>A (p.Ser640Thr)
c.1693T>A (p.Ser565Thr)
n.2411T>A
n.2425T>A
2g.43877800T>CCA346671231ABCG8c.1909T>C (p.Ser637Pro)
c.1906T>C (p.Ser636Pro)
c.1921T>C (p.Ser641Pro)
c.1918T>C (p.Ser640Pro)
c.1693T>C (p.Ser565Pro)
n.2411T>C
n.2425T>C
2g.43877800T>GCA346671232ABCG8c.1909T>G (p.Ser637Ala)
c.1906T>G (p.Ser636Ala)
c.1921T>G (p.Ser641Ala)
c.1918T>G (p.Ser640Ala)
c.1693T>G (p.Ser565Ala)
n.2411T>G
n.2425T>G
2g.43877801C>ACA346671235ABCG8c.1910C>A (p.Ser637Ter)
c.1907C>A (p.Ser636Ter)
c.1922C>A (p.Ser641Ter)
c.1919C>A (p.Ser640Ter)
c.1694C>A (p.Ser565Ter)
n.2412C>A
n.2426C>A
2g.43877801C=CA2493965137ABCG8c.1910C= (p.Ser637=)
c.1907C= (p.Ser636=)
c.1922C= (p.Ser641=)
c.1919C= (p.Ser640=)
c.1694C= (p.Ser565=)
n.2412C=
n.2426C=
2g.43877801C>GCA346671237ABCG8c.1910C>G (p.Ser637Trp)
c.1907C>G (p.Ser636Trp)
c.1922C>G (p.Ser641Trp)
c.1919C>G (p.Ser640Trp)
c.1694C>G (p.Ser565Trp)
n.2412C>G
n.2426C>G
2g.43877801C>TCA1637722ABCG8c.1910C>T (p.Ser637Leu)
c.1907C>T (p.Ser636Leu)
c.1922C>T (p.Ser641Leu)
c.1919C>T (p.Ser640Leu)
c.1694C>T (p.Ser565Leu)
n.2412C>T
n.2426C>T
 dbSNP ExAC gnomAD v2 COSMIC
2g.43877802G>ACA1637723ABCG8c.1911G>A (p.Ser637=)
c.1908G>A (p.Ser636=)
c.1923G>A (p.Ser641=)
c.1920G>A (p.Ser640=)
c.1695G>A (p.Ser565=)
n.2413G>A
n.2427G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877802G>CCA425908294ABCG8c.1911G>C (p.Ser637=)
c.1908G>C (p.Ser636=)
c.1923G>C (p.Ser641=)
c.1920G>C (p.Ser640=)
c.1695G>C (p.Ser565=)
n.2413G>C
n.2427G>C
 gnomAD v4
2g.43877802G=CA2493965138ABCG8c.1911G= (p.Ser637=)
c.1908G= (p.Ser636=)
c.1923G= (p.Ser641=)
c.1920G= (p.Ser640=)
c.1695G= (p.Ser565=)
n.2413G=
n.2427G=
2g.43877802G>TCA425908295ABCG8c.1911G>T (p.Ser637=)
c.1908G>T (p.Ser636=)
c.1923G>T (p.Ser641=)
c.1920G>T (p.Ser640=)
c.1695G>T (p.Ser565=)
n.2413G>T
n.2427G>T
2g.43877803T>ACA346671240ABCG8c.1912T>A (p.Tyr638Asn)
c.1909T>A (p.Tyr637Asn)
c.1924T>A (p.Tyr642Asn)
c.1921T>A (p.Tyr641Asn)
c.1696T>A (p.Tyr566Asn)
n.2414T>A
n.2428T>A
2g.43877803T>CCA346671242ABCG8c.1912T>C (p.Tyr638His)
c.1909T>C (p.Tyr637His)
c.1924T>C (p.Tyr642His)
c.1921T>C (p.Tyr641His)
c.1696T>C (p.Tyr566His)
n.2414T>C
n.2428T>C
 ClinVar dbSNP
2g.43877803T>GCA346671244ABCG8c.1912T>G (p.Tyr638Asp)
c.1909T>G (p.Tyr637Asp)
c.1924T>G (p.Tyr642Asp)
c.1921T>G (p.Tyr641Asp)
c.1696T>G (p.Tyr566Asp)
n.2414T>G
n.2428T>G
 gnomAD v4
2g.43877804A=CA2493965139ABCG8c.1913A= (p.Tyr638=)
c.1910A= (p.Tyr637=)
c.1925A= (p.Tyr642=)
c.1922A= (p.Tyr641=)
c.1697A= (p.Tyr566=)
n.2415A=
n.2429A=
2g.43877804A>CCA346671246ABCG8c.1913A>C (p.Tyr638Ser)
c.1910A>C (p.Tyr637Ser)
c.1925A>C (p.Tyr642Ser)
c.1922A>C (p.Tyr641Ser)
c.1697A>C (p.Tyr566Ser)
n.2415A>C
n.2429A>C
 dbSNP gnomAD v3 gnomAD v4
2g.43877804A>GCA346671248ABCG8c.1913A>G (p.Tyr638Cys)
c.1910A>G (p.Tyr637Cys)
c.1925A>G (p.Tyr642Cys)
c.1922A>G (p.Tyr641Cys)
c.1697A>G (p.Tyr566Cys)
n.2415A>G
n.2429A>G
2g.43877804A>TCA346671249ABCG8c.1913A>T (p.Tyr638Phe)
c.1910A>T (p.Tyr637Phe)
c.1925A>T (p.Tyr642Phe)
c.1922A>T (p.Tyr641Phe)
c.1697A>T (p.Tyr566Phe)
n.2415A>T
n.2429A>T
2g.43877805C>ACA346671250ABCG8c.1914C>A (p.Tyr638Ter)
c.1911C>A (p.Tyr637Ter)
c.1926C>A (p.Tyr642Ter)
c.1923C>A (p.Tyr641Ter)
c.1698C>A (p.Tyr566Ter)
n.2416C>A
n.2430C>A
2g.43877805C>GCA346671252ABCG8c.1914C>G (p.Tyr638Ter)
c.1911C>G (p.Tyr637Ter)
c.1926C>G (p.Tyr642Ter)
c.1923C>G (p.Tyr641Ter)
c.1698C>G (p.Tyr566Ter)
n.2416C>G
n.2430C>G
2g.43877805C>TCA425908296ABCG8c.1914C>T (p.Tyr638=)
c.1911C>T (p.Tyr637=)
c.1926C>T (p.Tyr642=)
c.1923C>T (p.Tyr641=)
c.1698C>T (p.Tyr566=)
n.2416C>T
n.2430C>T
2g.43877806C>ACA346671254ABCG8c.1915C>A (p.Pro639Thr)
c.1912C>A (p.Pro638Thr)
c.1927C>A (p.Pro643Thr)
c.1924C>A (p.Pro642Thr)
c.1699C>A (p.Pro567Thr)
n.2417C>A
n.2431C>A
2g.43877806C>GCA346671256ABCG8c.1915C>G (p.Pro639Ala)
c.1912C>G (p.Pro638Ala)
c.1927C>G (p.Pro643Ala)
c.1924C>G (p.Pro642Ala)
c.1699C>G (p.Pro567Ala)
n.2417C>G
n.2431C>G
2g.43877806C>TCA346671258ABCG8c.1915C>T (p.Pro639Ser)
c.1912C>T (p.Pro638Ser)
c.1927C>T (p.Pro643Ser)
c.1924C>T (p.Pro642Ser)
c.1699C>T (p.Pro567Ser)
n.2417C>T
n.2431C>T
 gnomAD v4
2g.43877807C>ACA346671261ABCG8c.1916C>A (p.Pro639His)
c.1913C>A (p.Pro638His)
c.1928C>A (p.Pro643His)
c.1925C>A (p.Pro642His)
c.1700C>A (p.Pro567His)
n.2418C>A
n.2432C>A
2g.43877807C=CA2493965140ABCG8c.1916C= (p.Pro639=)
c.1913C= (p.Pro638=)
c.1928C= (p.Pro643=)
c.1925C= (p.Pro642=)
c.1700C= (p.Pro567=)
n.2418C=
n.2432C=
2g.43877807C>GCA346671263ABCG8c.1916C>G (p.Pro639Arg)
c.1913C>G (p.Pro638Arg)
c.1928C>G (p.Pro643Arg)
c.1925C>G (p.Pro642Arg)
c.1700C>G (p.Pro567Arg)
n.2418C>G
n.2432C>G
2g.43877807C>TCA46474713ABCG8c.1916C>T (p.Pro639Leu)
c.1913C>T (p.Pro638Leu)
c.1928C>T (p.Pro643Leu)
c.1925C>T (p.Pro642Leu)
c.1700C>T (p.Pro567Leu)
n.2418C>T
n.2432C>T
 dbSNP gnomAD v2 gnomAD v4
2g.43877808T>ACA425908297ABCG8c.1917T>A (p.Pro639=)
c.1914T>A (p.Pro638=)
c.1929T>A (p.Pro643=)
c.1926T>A (p.Pro642=)
c.1701T>A (p.Pro567=)
n.2419T>A
n.2433T>A
2g.43877808T>CCA425908298ABCG8c.1917T>C (p.Pro639=)
c.1914T>C (p.Pro638=)
c.1929T>C (p.Pro643=)
c.1926T>C (p.Pro642=)
c.1701T>C (p.Pro567=)
n.2419T>C
n.2433T>C
2g.43877808T>GCA425908299ABCG8c.1917T>G (p.Pro639=)
c.1914T>G (p.Pro638=)
c.1929T>G (p.Pro643=)
c.1926T>G (p.Pro642=)
c.1701T>G (p.Pro567=)
n.2419T>G
n.2433T>G
2g.43877809C>ACA346671266ABCG8c.1918C>A (p.Leu640Ile)
c.1915C>A (p.Leu639Ile)
c.1930C>A (p.Leu644Ile)
c.1927C>A (p.Leu643Ile)
c.1702C>A (p.Leu568Ile)
n.2420C>A
n.2434C>A
2g.43877809C>GCA346671267ABCG8c.1918C>G (p.Leu640Val)
c.1915C>G (p.Leu639Val)
c.1930C>G (p.Leu644Val)
c.1927C>G (p.Leu643Val)
c.1702C>G (p.Leu568Val)
n.2420C>G
n.2434C>G
2g.43877809C>TCA346671269ABCG8c.1918C>T (p.Leu640Phe)
c.1915C>T (p.Leu639Phe)
c.1930C>T (p.Leu644Phe)
c.1927C>T (p.Leu643Phe)
c.1702C>T (p.Leu568Phe)
n.2420C>T
n.2434C>T
 gnomAD v4
2g.43877810T>ACA346671272ABCG8c.1919T>A (p.Leu640His)
c.1916T>A (p.Leu639His)
c.1931T>A (p.Leu644His)
c.1928T>A (p.Leu643His)
c.1703T>A (p.Leu568His)
n.2421T>A
n.2435T>A
2g.43877810T>CCA346671273ABCG8c.1919T>C (p.Leu640Pro)
c.1916T>C (p.Leu639Pro)
c.1931T>C (p.Leu644Pro)
c.1928T>C (p.Leu643Pro)
c.1703T>C (p.Leu568Pro)
n.2421T>C
n.2435T>C
2g.43877810T>GCA346671274ABCG8c.1919T>G (p.Leu640Arg)
c.1916T>G (p.Leu639Arg)
c.1931T>G (p.Leu644Arg)
c.1928T>G (p.Leu643Arg)
c.1703T>G (p.Leu568Arg)
n.2421T>G
n.2435T>G
2g.43877811C>ACA425908300ABCG8c.1920C>A (p.Leu640=)
c.1917C>A (p.Leu639=)
c.1932C>A (p.Leu644=)
c.1929C>A (p.Leu643=)
c.1704C>A (p.Leu568=)
n.2422C>A
n.2436C>A
2g.43877811C>GCA425908301ABCG8c.1920C>G (p.Leu640=)
c.1917C>G (p.Leu639=)
c.1932C>G (p.Leu644=)
c.1929C>G (p.Leu643=)
c.1704C>G (p.Leu568=)
n.2422C>G
n.2436C>G
2g.43877811C>TCA425908302ABCG8c.1920C>T (p.Leu640=)
c.1917C>T (p.Leu639=)
c.1932C>T (p.Leu644=)
c.1929C>T (p.Leu643=)
c.1704C>T (p.Leu568=)
n.2422C>T
n.2436C>T
2g.43877812T>ACA346671280ABCG8c.1921T>A (p.Tyr641Asn)
c.1918T>A (p.Tyr640Asn)
c.1933T>A (p.Tyr645Asn)
c.1930T>A (p.Tyr644Asn)
c.1705T>A (p.Tyr569Asn)
n.2423T>A
n.2437T>A
2g.43877812T>CCA346671277ABCG8c.1921T>C (p.Tyr641His)
c.1918T>C (p.Tyr640His)
c.1933T>C (p.Tyr645His)
c.1930T>C (p.Tyr644His)
c.1705T>C (p.Tyr569His)
n.2423T>C
n.2437T>C
2g.43877812T>GCA346671278ABCG8c.1921T>G (p.Tyr641Asp)
c.1918T>G (p.Tyr640Asp)
c.1933T>G (p.Tyr645Asp)
c.1930T>G (p.Tyr644Asp)
c.1705T>G (p.Tyr569Asp)
n.2423T>G
n.2437T>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877812T=CA2493965141ABCG8c.1921T= (p.Tyr641=)
c.1918T= (p.Tyr640=)
c.1933T= (p.Tyr645=)
c.1930T= (p.Tyr644=)
c.1705T= (p.Tyr569=)
n.2423T=
n.2437T=

Number of alleles fetched