Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.43877790G>ACA346671190ABCG8c.1899G>A (p.Met633Ile)
c.1896G>A (p.Met632Ile)
c.1911G>A (p.Met637Ile)
c.1908G>A (p.Met636Ile)
c.1683G>A (p.Met561Ile)
n.2401G>A
n.2415G>A
2g.43877790G>CCA346671188ABCG8c.1899G>C (p.Met633Ile)
c.1896G>C (p.Met632Ile)
c.1911G>C (p.Met637Ile)
c.1908G>C (p.Met636Ile)
c.1683G>C (p.Met561Ile)
n.2401G>C
n.2415G>C
2g.43877790G>TCA346671191ABCG8c.1899G>T (p.Met633Ile)
c.1896G>T (p.Met632Ile)
c.1911G>T (p.Met637Ile)
c.1908G>T (p.Met636Ile)
c.1683G>T (p.Met561Ile)
n.2401G>T
n.2415G>T
2g.43877791G>ACA346671193ABCG8c.1900G>A (p.Glu634Lys)
c.1897G>A (p.Glu633Lys)
c.1912G>A (p.Glu638Lys)
c.1909G>A (p.Glu637Lys)
c.1684G>A (p.Glu562Lys)
n.2402G>A
n.2416G>A
2g.43877791G>CCA346671195ABCG8c.1900G>C (p.Glu634Gln)
c.1897G>C (p.Glu633Gln)
c.1912G>C (p.Glu638Gln)
c.1909G>C (p.Glu637Gln)
c.1684G>C (p.Glu562Gln)
n.2402G>C
n.2416G>C
2g.43877791G>TCA346671197ABCG8c.1900G>T (p.Glu634Ter)
c.1897G>T (p.Glu633Ter)
c.1912G>T (p.Glu638Ter)
c.1909G>T (p.Glu637Ter)
c.1684G>T (p.Glu562Ter)
n.2402G>T
n.2416G>T
2g.43877792A>CCA346671199ABCG8c.1901A>C (p.Glu634Ala)
c.1898A>C (p.Glu633Ala)
c.1913A>C (p.Glu638Ala)
c.1910A>C (p.Glu637Ala)
c.1685A>C (p.Glu562Ala)
n.2403A>C
n.2417A>C
2g.43877792A>GCA346671201ABCG8c.1901A>G (p.Glu634Gly)
c.1898A>G (p.Glu633Gly)
c.1913A>G (p.Glu638Gly)
c.1910A>G (p.Glu637Gly)
c.1685A>G (p.Glu562Gly)
n.2403A>G
n.2417A>G
2g.43877792A>TCA346671203ABCG8c.1901A>T (p.Glu634Val)
c.1898A>T (p.Glu633Val)
c.1913A>T (p.Glu638Val)
c.1910A>T (p.Glu637Val)
c.1685A>T (p.Glu562Val)
n.2403A>T
n.2417A>T
2g.43877793G>ACA425908288ABCG8c.1902G>A (p.Glu634=)
c.1899G>A (p.Glu633=)
c.1914G>A (p.Glu638=)
c.1911G>A (p.Glu637=)
c.1686G>A (p.Glu562=)
n.2404G>A
n.2418G>A
2g.43877793G>CCA346671204ABCG8c.1902G>C (p.Glu634Asp)
c.1899G>C (p.Glu633Asp)
c.1914G>C (p.Glu638Asp)
c.1911G>C (p.Glu637Asp)
c.1686G>C (p.Glu562Asp)
n.2404G>C
n.2418G>C
2g.43877793G>TCA346671206ABCG8c.1902G>T (p.Glu634Asp)
c.1899G>T (p.Glu633Asp)
c.1914G>T (p.Glu638Asp)
c.1911G>T (p.Glu637Asp)
c.1686G>T (p.Glu562Asp)
n.2404G>T
n.2418G>T
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.43877794C>ACA346671209ABCG8c.1903C>A (p.Leu635Met)
c.1900C>A (p.Leu634Met)
c.1915C>A (p.Leu639Met)
c.1912C>A (p.Leu638Met)
c.1687C>A (p.Leu563Met)
n.2405C>A
n.2419C>A
2g.43877794C=CA2493965133ABCG8c.1903C= (p.Leu635=)
c.1900C= (p.Leu634=)
c.1915C= (p.Leu639=)
c.1912C= (p.Leu638=)
c.1687C= (p.Leu563=)
n.2405C=
n.2419C=
2g.43877794C>GCA346671211ABCG8c.1903C>G (p.Leu635Val)
c.1900C>G (p.Leu634Val)
c.1915C>G (p.Leu639Val)
c.1912C>G (p.Leu638Val)
c.1687C>G (p.Leu563Val)
n.2405C>G
n.2419C>G
 dbSNP gnomAD v4
2g.43877794C>TCA425908289ABCG8c.1903C>T (p.Leu635=)
c.1900C>T (p.Leu634=)
c.1915C>T (p.Leu639=)
c.1912C>T (p.Leu638=)
c.1687C>T (p.Leu563=)
n.2405C>T
n.2419C>T
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.43877795T>ACA346671214ABCG8c.1904T>A (p.Leu635Gln)
c.1901T>A (p.Leu634Gln)
c.1916T>A (p.Leu639Gln)
c.1913T>A (p.Leu638Gln)
c.1688T>A (p.Leu563Gln)
n.2406T>A
n.2420T>A
2g.43877795T>CCA1637719ABCG8c.1904T>C (p.Leu635Pro)
c.1901T>C (p.Leu634Pro)
c.1916T>C (p.Leu639Pro)
c.1913T>C (p.Leu638Pro)
c.1688T>C (p.Leu563Pro)
n.2406T>C
n.2420T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877795T>GCA346671212ABCG8c.1904T>G (p.Leu635Arg)
c.1901T>G (p.Leu634Arg)
c.1916T>G (p.Leu639Arg)
c.1913T>G (p.Leu638Arg)
c.1688T>G (p.Leu563Arg)
n.2406T>G
n.2420T>G
2g.43877795T=CA2493965135ABCG8c.1904T= (p.Leu635=)
c.1901T= (p.Leu634=)
c.1916T= (p.Leu639=)
c.1913T= (p.Leu638=)
c.1688T= (p.Leu563=)
n.2406T=
n.2420T=
2g.43877795_43877796delinsTGCA2493965134ABCG8c.1904_1905delinsTG (p.Leu635=)
c.1901_1902delinsTG (p.Leu634=)
c.1916_1917delinsTG (p.Leu639=)
c.1913_1914delinsTG (p.Leu638=)
c.1688_1689delinsTG (p.Leu563=)
n.2406_2407delinsTG
n.2420_2421delinsTG
2g.43877796G>ACA425908290ABCG8c.1905G>A (p.Leu635=)
c.1902G>A (p.Leu634=)
c.1917G>A (p.Leu639=)
c.1914G>A (p.Leu638=)
c.1689G>A (p.Leu563=)
n.2407G>A
n.2421G>A
2g.43877796G>CCA425908291ABCG8c.1905G>C (p.Leu635=)
c.1902G>C (p.Leu634=)
c.1917G>C (p.Leu639=)
c.1914G>C (p.Leu638=)
c.1689G>C (p.Leu563=)
n.2407G>C
n.2421G>C
2g.43877796G>TCA425908292ABCG8c.1905G>T (p.Leu635=)
c.1902G>T (p.Leu634=)
c.1917G>T (p.Leu639=)
c.1914G>T (p.Leu638=)
c.1689G>T (p.Leu563=)
n.2407G>T
n.2421G>T
2g.43877797delCA1637720ABCG8c.1906del (p.Asp636ThrfsTer27)
c.1903del (p.Asp635ThrfsTer27)
c.1918del (p.Asp640ThrfsTer27)
c.1915del (p.Asp639ThrfsTer27)
c.1690del (p.Asp564ThrfsTer27)
n.2408del
n.2422del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877797G>ACA346671217ABCG8c.1906G>A (p.Asp636Asn)
c.1903G>A (p.Asp635Asn)
c.1918G>A (p.Asp640Asn)
c.1915G>A (p.Asp639Asn)
c.1690G>A (p.Asp564Asn)
n.2408G>A
n.2422G>A
 dbSNP COSMIC
2g.43877797G>CCA346671219ABCG8c.1906G>C (p.Asp636His)
c.1903G>C (p.Asp635His)
c.1918G>C (p.Asp640His)
c.1915G>C (p.Asp639His)
c.1690G>C (p.Asp564His)
n.2408G>C
n.2422G>C
2g.43877797G>TCA346671221ABCG8c.1906G>T (p.Asp636Tyr)
c.1903G>T (p.Asp635Tyr)
c.1918G>T (p.Asp640Tyr)
c.1915G>T (p.Asp639Tyr)
c.1690G>T (p.Asp564Tyr)
n.2408G>T
n.2422G>T
 gnomAD v4
2g.43877798A>CCA346671222ABCG8c.1907A>C (p.Asp636Ala)
c.1904A>C (p.Asp635Ala)
c.1919A>C (p.Asp640Ala)
c.1916A>C (p.Asp639Ala)
c.1691A>C (p.Asp564Ala)
n.2409A>C
n.2423A>C
2g.43877798A>GCA346671223ABCG8c.1907A>G (p.Asp636Gly)
c.1904A>G (p.Asp635Gly)
c.1919A>G (p.Asp640Gly)
c.1916A>G (p.Asp639Gly)
c.1691A>G (p.Asp564Gly)
n.2409A>G
n.2423A>G
2g.43877798A>TCA346671225ABCG8c.1907A>T (p.Asp636Val)
c.1904A>T (p.Asp635Val)
c.1919A>T (p.Asp640Val)
c.1916A>T (p.Asp639Val)
c.1691A>T (p.Asp564Val)
n.2409A>T
n.2423A>T
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=
2g.43877813A=CA2493965142ABCG8c.1922A= (p.Tyr641=)
c.1919A= (p.Tyr640=)
c.1934A= (p.Tyr645=)
c.1931A= (p.Tyr644=)
c.1706A= (p.Tyr569=)
n.2424A=
n.2438A=
2g.43877813A>CCA346671282ABCG8c.1922A>C (p.Tyr641Ser)
c.1919A>C (p.Tyr640Ser)
c.1934A>C (p.Tyr645Ser)
c.1931A>C (p.Tyr644Ser)
c.1706A>C (p.Tyr569Ser)
n.2424A>C
n.2438A>C
2g.43877813A>GCA346671284ABCG8c.1922A>G (p.Tyr641Cys)
c.1919A>G (p.Tyr640Cys)
c.1934A>G (p.Tyr645Cys)
c.1931A>G (p.Tyr644Cys)
c.1706A>G (p.Tyr569Cys)
n.2424A>G
n.2438A>G
2g.43877813A>TCA1637724ABCG8c.1922A>T (p.Tyr641Phe)
c.1919A>T (p.Tyr640Phe)
c.1934A>T (p.Tyr645Phe)
c.1931A>T (p.Tyr644Phe)
c.1706A>T (p.Tyr569Phe)
n.2424A>T
n.2438A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877814C>ACA346671287ABCG8c.1923C>A (p.Tyr641Ter)
c.1920C>A (p.Tyr640Ter)
c.1935C>A (p.Tyr645Ter)
c.1932C>A (p.Tyr644Ter)
c.1707C>A (p.Tyr569Ter)
n.2425C>A
n.2439C>A
2g.43877814C=CA2493965143ABCG8c.1923C= (p.Tyr641=)
c.1920C= (p.Tyr640=)
c.1935C= (p.Tyr645=)
c.1932C= (p.Tyr644=)
c.1707C= (p.Tyr569=)
n.2425C=
n.2439C=
2g.43877814C>GCA346671289ABCG8c.1923C>G (p.Tyr641Ter)
c.1920C>G (p.Tyr640Ter)
c.1935C>G (p.Tyr645Ter)
c.1932C>G (p.Tyr644Ter)
c.1707C>G (p.Tyr569Ter)
n.2425C>G
n.2439C>G
2g.43877814C>TCA1637725ABCG8c.1923C>T (p.Tyr641=)
c.1920C>T (p.Tyr640=)
c.1935C>T (p.Tyr645=)
c.1932C>T (p.Tyr644=)
c.1707C>T (p.Tyr569=)
n.2425C>T
n.2439C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877815G>ACA1637726ABCG8c.1924G>A (p.Ala642Thr)
c.1921G>A (p.Ala641Thr)
c.1936G>A (p.Ala646Thr)
c.1933G>A (p.Ala645Thr)
c.1708G>A (p.Ala570Thr)
n.2426G>A
n.2440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877815G>CCA346671294ABCG8c.1924G>C (p.Ala642Pro)
c.1921G>C (p.Ala641Pro)
c.1936G>C (p.Ala646Pro)
c.1933G>C (p.Ala645Pro)
c.1708G>C (p.Ala570Pro)
n.2426G>C
n.2440G>C
2g.43877815G=CA2493965144ABCG8c.1924G= (p.Ala642=)
c.1921G= (p.Ala641=)
c.1936G= (p.Ala646=)
c.1933G= (p.Ala645=)
c.1708G= (p.Ala570=)
n.2426G=
n.2440G=
2g.43877815G>TCA346671292ABCG8c.1924G>T (p.Ala642Ser)
c.1921G>T (p.Ala641Ser)
c.1936G>T (p.Ala646Ser)
c.1933G>T (p.Ala645Ser)
c.1708G>T (p.Ala570Ser)
n.2426G>T
n.2440G>T
2g.43877815dupCA532288643ABCG8c.1924dup (p.Ala642GlyfsTer?)
c.1921dup (p.Ala641GlyfsTer?)
c.1936dup (p.Ala646GlyfsTer?)
c.1933dup (p.Ala645GlyfsTer?)
c.1708dup (p.Ala570GlyfsTer?)
n.2426dup
n.2440dup
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877816C>ACA346671295ABCG8c.1925C>A (p.Ala642Asp)
c.1922C>A (p.Ala641Asp)
c.1937C>A (p.Ala646Asp)
c.1934C>A (p.Ala645Asp)
c.1709C>A (p.Ala570Asp)
n.2427C>A
n.2441C>A
 gnomAD v4
2g.43877816C=CA2493965145ABCG8c.1925C= (p.Ala642=)
c.1922C= (p.Ala641=)
c.1937C= (p.Ala646=)
c.1934C= (p.Ala645=)
c.1709C= (p.Ala570=)
n.2427C=
n.2441C=
2g.43877816C>GCA46474732ABCG8c.1925C>G (p.Ala642Gly)
c.1922C>G (p.Ala641Gly)
c.1937C>G (p.Ala646Gly)
c.1934C>G (p.Ala645Gly)
c.1709C>G (p.Ala570Gly)
n.2427C>G
n.2441C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877816C>TCA346671297ABCG8c.1925C>T (p.Ala642Val)
c.1922C>T (p.Ala641Val)
c.1937C>T (p.Ala646Val)
c.1934C>T (p.Ala645Val)
c.1709C>T (p.Ala570Val)
n.2427C>T
n.2441C>T
2g.43877817C>ACA425908303ABCG8c.1926C>A (p.Ala642=)
c.1923C>A (p.Ala641=)
c.1938C>A (p.Ala646=)
c.1935C>A (p.Ala645=)
c.1710C>A (p.Ala570=)
n.2428C>A
n.2442C>A
 gnomAD v4
2g.43877817C=CA2493965146ABCG8c.1926C= (p.Ala642=)
c.1923C= (p.Ala641=)
c.1938C= (p.Ala646=)
c.1935C= (p.Ala645=)
c.1710C= (p.Ala570=)
n.2428C=
n.2442C=
2g.43877817C>GCA425908304ABCG8c.1926C>G (p.Ala642=)
c.1923C>G (p.Ala641=)
c.1938C>G (p.Ala646=)
c.1935C>G (p.Ala645=)
c.1710C>G (p.Ala570=)
n.2428C>G
n.2442C>G
2g.43877817C>TCA425908305ABCG8c.1926C>T (p.Ala642=)
c.1923C>T (p.Ala641=)
c.1938C>T (p.Ala646=)
c.1935C>T (p.Ala645=)
c.1710C>T (p.Ala570=)
n.2428C>T
n.2442C>T
 dbSNP gnomAD v3 gnomAD v4
2g.43877818A=CA2493965147ABCG8c.1927A= (p.Ile643=)
c.1924A= (p.Ile642=)
c.1939A= (p.Ile647=)
c.1936A= (p.Ile646=)
c.1711A= (p.Ile571=)
n.2429A=
n.2443A=
2g.43877818A>CCA346671300ABCG8c.1927A>C (p.Ile643Leu)
c.1924A>C (p.Ile642Leu)
c.1939A>C (p.Ile647Leu)
c.1936A>C (p.Ile646Leu)
c.1711A>C (p.Ile571Leu)
n.2429A>C
n.2443A>C
2g.43877818A>GCA46474739ABCG8c.1927A>G (p.Ile643Val)
c.1924A>G (p.Ile642Val)
c.1939A>G (p.Ile647Val)
c.1936A>G (p.Ile646Val)
c.1711A>G (p.Ile571Val)
n.2429A>G
n.2443A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877818A>TCA346671302ABCG8c.1927A>T (p.Ile643Phe)
c.1924A>T (p.Ile642Phe)
c.1939A>T (p.Ile647Phe)
c.1936A>T (p.Ile646Phe)
c.1711A>T (p.Ile571Phe)
n.2429A>T
n.2443A>T
 dbSNP
2g.43877819T>ACA346671305ABCG8c.1928T>A (p.Ile643Asn)
c.1925T>A (p.Ile642Asn)
c.1940T>A (p.Ile647Asn)
c.1937T>A (p.Ile646Asn)
c.1712T>A (p.Ile571Asn)
n.2430T>A
n.2444T>A
2g.43877819T>CCA346671307ABCG8c.1928T>C (p.Ile643Thr)
c.1925T>C (p.Ile642Thr)
c.1940T>C (p.Ile647Thr)
c.1937T>C (p.Ile646Thr)
c.1712T>C (p.Ile571Thr)
n.2430T>C
n.2444T>C
 COSMIC
2g.43877819T>GCA346671308ABCG8c.1928T>G (p.Ile643Ser)
c.1925T>G (p.Ile642Ser)
c.1940T>G (p.Ile647Ser)
c.1937T>G (p.Ile646Ser)
c.1712T>G (p.Ile571Ser)
n.2430T>G
n.2444T>G
2g.43877821_43877841dupCA2658838101ABCG8c.1930_1950dup (p.Leu650_Ser651insTyrLeuIleValIleGlyLeu)
c.1927_1947dup (p.Leu649_Ser650insTyrLeuIleValIleGlyLeu)
c.1942_1962dup (p.Leu654_Ser655insTyrLeuIleValIleGlyLeu)
c.1939_1959dup (p.Leu653_Ser654insTyrLeuIleValIleGlyLeu)
c.1714_1734dup (p.Leu578_Ser579insTyrLeuIleValIleGlyLeu)
n.2432_2452dup
n.2446_2466dup
 gnomAD v4
2g.43877820C>ACA425908306ABCG8c.1929C>A (p.Ile643=)
c.1926C>A (p.Ile642=)
c.1941C>A (p.Ile647=)
c.1938C>A (p.Ile646=)
c.1713C>A (p.Ile571=)
n.2431C>A
n.2445C>A
2g.43877820C>GCA346671310ABCG8c.1929C>G (p.Ile643Met)
c.1926C>G (p.Ile642Met)
c.1941C>G (p.Ile647Met)
c.1938C>G (p.Ile646Met)
c.1713C>G (p.Ile571Met)
n.2431C>G
n.2445C>G
 gnomAD v4
2g.43877820C>TCA425908307ABCG8c.1929C>T (p.Ile643=)
c.1926C>T (p.Ile642=)
c.1941C>T (p.Ile647=)
c.1938C>T (p.Ile646=)
c.1713C>T (p.Ile571=)
n.2431C>T
n.2445C>T
2g.43877821T>ACA346671312ABCG8c.1930T>A (p.Tyr644Asn)
c.1927T>A (p.Tyr643Asn)
c.1942T>A (p.Tyr648Asn)
c.1939T>A (p.Tyr647Asn)
c.1714T>A (p.Tyr572Asn)
n.2432T>A
n.2446T>A
2g.43877821T>CCA346671314ABCG8c.1930T>C (p.Tyr644His)
c.1927T>C (p.Tyr643His)
c.1942T>C (p.Tyr648His)
c.1939T>C (p.Tyr647His)
c.1714T>C (p.Tyr572His)
n.2432T>C
n.2446T>C
2g.43877821T>GCA346671315ABCG8c.1930T>G (p.Tyr644Asp)
c.1927T>G (p.Tyr643Asp)
c.1942T>G (p.Tyr648Asp)
c.1939T>G (p.Tyr647Asp)
c.1714T>G (p.Tyr572Asp)
n.2432T>G
n.2446T>G
2g.43877822A=CA2493965148ABCG8c.1931A= (p.Tyr644=)
c.1928A= (p.Tyr643=)
c.1943A= (p.Tyr648=)
c.1940A= (p.Tyr647=)
c.1715A= (p.Tyr572=)
n.2433A=
n.2447A=
2g.43877822A>CCA346671317ABCG8c.1931A>C (p.Tyr644Ser)
c.1928A>C (p.Tyr643Ser)
c.1943A>C (p.Tyr648Ser)
c.1940A>C (p.Tyr647Ser)
c.1715A>C (p.Tyr572Ser)
n.2433A>C
n.2447A>C
2g.43877822A>GCA1637727ABCG8c.1931A>G (p.Tyr644Cys)
c.1928A>G (p.Tyr643Cys)
c.1943A>G (p.Tyr648Cys)
c.1940A>G (p.Tyr647Cys)
c.1715A>G (p.Tyr572Cys)
n.2433A>G
n.2447A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877822A>TCA346671319ABCG8c.1931A>T (p.Tyr644Phe)
c.1928A>T (p.Tyr643Phe)
c.1943A>T (p.Tyr648Phe)
c.1940A>T (p.Tyr647Phe)
c.1715A>T (p.Tyr572Phe)
n.2433A>T
n.2447A>T
2g.43877823C>ACA346671323ABCG8c.1932C>A (p.Tyr644Ter)
c.1929C>A (p.Tyr643Ter)
c.1944C>A (p.Tyr648Ter)
c.1941C>A (p.Tyr647Ter)
c.1716C>A (p.Tyr572Ter)
n.2434C>A
n.2448C>A
2g.43877823C>GCA346671321ABCG8c.1932C>G (p.Tyr644Ter)
c.1929C>G (p.Tyr643Ter)
c.1944C>G (p.Tyr648Ter)
c.1941C>G (p.Tyr647Ter)
c.1716C>G (p.Tyr572Ter)
n.2434C>G
n.2448C>G
2g.43877823C>TCA425908308ABCG8c.1932C>T (p.Tyr644=)
c.1929C>T (p.Tyr643=)
c.1944C>T (p.Tyr648=)
c.1941C>T (p.Tyr647=)
c.1716C>T (p.Tyr572=)
n.2434C>T
n.2448C>T
2g.43877824C>ACA346671324ABCG8c.1933C>A (p.Leu645Ile)
c.1930C>A (p.Leu644Ile)
c.1945C>A (p.Leu649Ile)
c.1942C>A (p.Leu648Ile)
c.1717C>A (p.Leu573Ile)
n.2435C>A
n.2449C>A
2g.43877824C>GCA346671326ABCG8c.1933C>G (p.Leu645Val)
c.1930C>G (p.Leu644Val)
c.1945C>G (p.Leu649Val)
c.1942C>G (p.Leu648Val)
c.1717C>G (p.Leu573Val)
n.2435C>G
n.2449C>G
2g.43877824C>TCA346671328ABCG8c.1933C>T (p.Leu645Phe)
c.1930C>T (p.Leu644Phe)
c.1945C>T (p.Leu649Phe)
c.1942C>T (p.Leu648Phe)
c.1717C>T (p.Leu573Phe)
n.2435C>T
n.2449C>T
2g.43877825T>ACA346671329ABCG8c.1934T>A (p.Leu645His)
c.1931T>A (p.Leu644His)
c.1946T>A (p.Leu649His)
c.1943T>A (p.Leu648His)
c.1718T>A (p.Leu573His)
n.2436T>A
n.2450T>A
2g.43877825T>CCA346671331ABCG8c.1934T>C (p.Leu645Pro)
c.1931T>C (p.Leu644Pro)
c.1946T>C (p.Leu649Pro)
c.1943T>C (p.Leu648Pro)
c.1718T>C (p.Leu573Pro)
n.2436T>C
n.2450T>C
 dbSNP gnomAD v2 gnomAD v4
2g.43877825T>GCA346671333ABCG8c.1934T>G (p.Leu645Arg)
c.1931T>G (p.Leu644Arg)
c.1946T>G (p.Leu649Arg)
c.1943T>G (p.Leu648Arg)
c.1718T>G (p.Leu573Arg)
n.2436T>G
n.2450T>G
2g.43877825T=CA2493965149ABCG8c.1934T= (p.Leu645=)
c.1931T= (p.Leu644=)
c.1946T= (p.Leu649=)
c.1943T= (p.Leu648=)
c.1718T= (p.Leu573=)
n.2436T=
n.2450T=
2g.43877826C>ACA425908309ABCG8c.1935C>A (p.Leu645=)
c.1932C>A (p.Leu644=)
c.1947C>A (p.Leu649=)
c.1944C>A (p.Leu648=)
c.1719C>A (p.Leu573=)
n.2437C>A
n.2451C>A
2g.43877826C>GCA425908311ABCG8c.1935C>G (p.Leu645=)
c.1932C>G (p.Leu644=)
c.1947C>G (p.Leu649=)
c.1944C>G (p.Leu648=)
c.1719C>G (p.Leu573=)
n.2437C>G
n.2451C>G
2g.43877826C>TCA425908310ABCG8c.1935C>T (p.Leu645=)
c.1932C>T (p.Leu644=)
c.1947C>T (p.Leu649=)
c.1944C>T (p.Leu648=)
c.1719C>T (p.Leu573=)
n.2437C>T
n.2451C>T
 gnomAD v4
2g.43877827A=CA2493965150ABCG8c.1936A= (p.Ile646=)
c.1933A= (p.Ile645=)
c.1948A= (p.Ile650=)
c.1945A= (p.Ile649=)
c.1720A= (p.Ile574=)
n.2438A=
n.2452A=
2g.43877827A>CCA346671335ABCG8c.1936A>C (p.Ile646Leu)
c.1933A>C (p.Ile645Leu)
c.1948A>C (p.Ile650Leu)
c.1945A>C (p.Ile649Leu)
c.1720A>C (p.Ile574Leu)
n.2438A>C
n.2452A>C
 gnomAD v4
2g.43877827A>GCA346671336ABCG8c.1936A>G (p.Ile646Val)
c.1933A>G (p.Ile645Val)
c.1948A>G (p.Ile650Val)
c.1945A>G (p.Ile649Val)
c.1720A>G (p.Ile574Val)
n.2438A>G
n.2452A>G
 dbSNP gnomAD v2 gnomAD v4
2g.43877827A>TCA346671338ABCG8c.1936A>T (p.Ile646Phe)
c.1933A>T (p.Ile645Phe)
c.1948A>T (p.Ile650Phe)
c.1945A>T (p.Ile649Phe)
c.1720A>T (p.Ile574Phe)
n.2438A>T
n.2452A>T
2g.43877828T>ACA346671340ABCG8c.1937T>A (p.Ile646Asn)
c.1934T>A (p.Ile645Asn)
c.1949T>A (p.Ile650Asn)
c.1946T>A (p.Ile649Asn)
c.1721T>A (p.Ile574Asn)
n.2439T>A
n.2453T>A
2g.43877828T>CCA346671342ABCG8c.1937T>C (p.Ile646Thr)
c.1934T>C (p.Ile645Thr)
c.1949T>C (p.Ile650Thr)
c.1946T>C (p.Ile649Thr)
c.1721T>C (p.Ile574Thr)
n.2439T>C
n.2453T>C
2g.43877828T>GCA346671344ABCG8c.1937T>G (p.Ile646Ser)
c.1934T>G (p.Ile645Ser)
c.1949T>G (p.Ile650Ser)
c.1946T>G (p.Ile649Ser)
c.1721T>G (p.Ile574Ser)
n.2439T>G
n.2453T>G
2g.43877828_43877829delinsTCCA2493965151ABCG8c.1937_1938delinsTC (p.Ile646=)
c.1934_1935delinsTC (p.Ile645=)
c.1949_1950delinsTC (p.Ile650=)
c.1946_1947delinsTC (p.Ile649=)
c.1721_1722delinsTC (p.Ile574=)
n.2439_2440delinsTC
n.2453_2454delinsTC
2g.43877829delCA769091768ABCG8c.1938del (p.Ile646MetfsTer17)
c.1935del (p.Ile645MetfsTer17)
c.1950del (p.Ile650MetfsTer17)
c.1947del (p.Ile649MetfsTer17)
c.1722del (p.Ile574MetfsTer17)
n.2440del
n.2454del
 dbSNP
2g.43877829C>ACA425908312ABCG8c.1938C>A (p.Ile646=)
c.1935C>A (p.Ile645=)
c.1950C>A (p.Ile650=)
c.1947C>A (p.Ile649=)
c.1722C>A (p.Ile574=)
n.2440C>A
n.2454C>A
2g.43877829C>GCA346671345ABCG8c.1938C>G (p.Ile646Met)
c.1935C>G (p.Ile645Met)
c.1950C>G (p.Ile650Met)
c.1947C>G (p.Ile649Met)
c.1722C>G (p.Ile574Met)
n.2440C>G
n.2454C>G
2g.43877829C>TCA425908313ABCG8c.1938C>T (p.Ile646=)
c.1935C>T (p.Ile645=)
c.1950C>T (p.Ile650=)
c.1947C>T (p.Ile649=)
c.1722C>T (p.Ile574=)
n.2440C>T
n.2454C>T
 COSMIC
2g.43877829_43877830delinsTCA2580066526ABCG8c.1938_1939delinsT (p.Val647SerfsTer16)
c.1935_1936delinsT (p.Val646SerfsTer16)
c.1950_1951delinsT (p.Val651SerfsTer16)
c.1947_1948delinsT (p.Val650SerfsTer16)
c.1722_1723delinsT (p.Val575SerfsTer16)
n.2440_2441delinsT
n.2454_2455delinsT
 ClinVar
2g.43877830G>ACA346671347ABCG8c.1939G>A (p.Val647Ile)
c.1936G>A (p.Val646Ile)
c.1951G>A (p.Val651Ile)
c.1948G>A (p.Val650Ile)
c.1723G>A (p.Val575Ile)
n.2441G>A
n.2455G>A
 dbSNP gnomAD v4
2g.43877830G>CCA346671351ABCG8c.1939G>C (p.Val647Leu)
c.1936G>C (p.Val646Leu)
c.1951G>C (p.Val651Leu)
c.1948G>C (p.Val650Leu)
c.1723G>C (p.Val575Leu)
n.2441G>C
n.2455G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877830G=CA2493965152ABCG8c.1939G= (p.Val647=)
c.1936G= (p.Val646=)
c.1951G= (p.Val651=)
c.1948G= (p.Val650=)
c.1723G= (p.Val575=)
n.2441G=
n.2455G=
2g.43877830G>TCA346671349ABCG8c.1939G>T (p.Val647Phe)
c.1936G>T (p.Val646Phe)
c.1951G>T (p.Val651Phe)
c.1948G>T (p.Val650Phe)
c.1723G>T (p.Val575Phe)
n.2441G>T
n.2455G>T
 dbSNP
2g.43877831T>ACA346671353ABCG8c.1940T>A (p.Val647Asp)
c.1937T>A (p.Val646Asp)
c.1952T>A (p.Val651Asp)
c.1949T>A (p.Val650Asp)
c.1724T>A (p.Val575Asp)
n.2442T>A
n.2456T>A
2g.43877831T>CCA346671355ABCG8c.1940T>C (p.Val647Ala)
c.1937T>C (p.Val646Ala)
c.1952T>C (p.Val651Ala)
c.1949T>C (p.Val650Ala)
c.1724T>C (p.Val575Ala)
n.2442T>C
n.2456T>C
2g.43877831T>GCA346671357ABCG8c.1940T>G (p.Val647Gly)
c.1937T>G (p.Val646Gly)
c.1952T>G (p.Val651Gly)
c.1949T>G (p.Val650Gly)
c.1724T>G (p.Val575Gly)
n.2442T>G
n.2456T>G
2g.43877832C>ACA425908314ABCG8c.1941C>A (p.Val647=)
c.1938C>A (p.Val646=)
c.1953C>A (p.Val651=)
c.1950C>A (p.Val650=)
c.1725C>A (p.Val575=)
n.2443C>A
n.2457C>A
2g.43877832C=CA2493965153ABCG8c.1941C= (p.Val647=)
c.1938C= (p.Val646=)
c.1953C= (p.Val651=)
c.1950C= (p.Val650=)
c.1725C= (p.Val575=)
n.2443C=
n.2457C=
2g.43877832C>GCA1637728ABCG8c.1941C>G (p.Val647=)
c.1938C>G (p.Val646=)
c.1953C>G (p.Val651=)
c.1950C>G (p.Val650=)
c.1725C>G (p.Val575=)
n.2443C>G
n.2457C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877832C>TCA425908315ABCG8c.1941C>T (p.Val647=)
c.1938C>T (p.Val646=)
c.1953C>T (p.Val651=)
c.1950C>T (p.Val650=)
c.1725C>T (p.Val575=)
n.2443C>T
n.2457C>T
 ClinVar dbSNP gnomAD v4
2g.43877833A>CCA346671360ABCG8c.1942A>C (p.Ile648Leu)
c.1939A>C (p.Ile647Leu)
c.1954A>C (p.Ile652Leu)
c.1951A>C (p.Ile651Leu)
c.1726A>C (p.Ile576Leu)
n.2444A>C
n.2458A>C
 gnomAD v4
2g.43877833A>GCA346671362ABCG8c.1942A>G (p.Ile648Val)
c.1939A>G (p.Ile647Val)
c.1954A>G (p.Ile652Val)
c.1951A>G (p.Ile651Val)
c.1726A>G (p.Ile576Val)
n.2444A>G
n.2458A>G
2g.43877833A>TCA346671363ABCG8c.1942A>T (p.Ile648Phe)
c.1939A>T (p.Ile647Phe)
c.1954A>T (p.Ile652Phe)
c.1951A>T (p.Ile651Phe)
c.1726A>T (p.Ile576Phe)
n.2444A>T
n.2458A>T
2g.43877834T>ACA346671366ABCG8c.1943T>A (p.Ile648Asn)
c.1940T>A (p.Ile647Asn)
c.1955T>A (p.Ile652Asn)
c.1952T>A (p.Ile651Asn)
c.1727T>A (p.Ile576Asn)
n.2445T>A
n.2459T>A
2g.43877834T>CCA346671367ABCG8c.1943T>C (p.Ile648Thr)
c.1940T>C (p.Ile647Thr)
c.1955T>C (p.Ile652Thr)
c.1952T>C (p.Ile651Thr)
c.1727T>C (p.Ile576Thr)
n.2445T>C
n.2459T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877834T>GCA346671369ABCG8c.1943T>G (p.Ile648Ser)
c.1940T>G (p.Ile647Ser)
c.1955T>G (p.Ile652Ser)
c.1952T>G (p.Ile651Ser)
c.1727T>G (p.Ile576Ser)
n.2445T>G
n.2459T>G
2g.43877834T=CA2493965154ABCG8c.1943T= (p.Ile648=)
c.1940T= (p.Ile647=)
c.1955T= (p.Ile652=)
c.1952T= (p.Ile651=)
c.1727T= (p.Ile576=)
n.2445T=
n.2459T=
2g.43877835T>ACA425908316ABCG8c.1944T>A (p.Ile648=)
c.1941T>A (p.Ile647=)
c.1956T>A (p.Ile652=)
c.1953T>A (p.Ile651=)
c.1728T>A (p.Ile576=)
n.2446T>A
n.2460T>A
2g.43877835T>CCA425908317ABCG8c.1944T>C (p.Ile648=)
c.1941T>C (p.Ile647=)
c.1956T>C (p.Ile652=)
c.1953T>C (p.Ile651=)
c.1728T>C (p.Ile576=)
n.2446T>C
n.2460T>C
2g.43877835T>GCA346671371ABCG8c.1944T>G (p.Ile648Met)
c.1941T>G (p.Ile647Met)
c.1956T>G (p.Ile652Met)
c.1953T>G (p.Ile651Met)
c.1728T>G (p.Ile576Met)
n.2446T>G
n.2460T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877835T=CA2493965155ABCG8c.1944T= (p.Ile648=)
c.1941T= (p.Ile647=)
c.1956T= (p.Ile652=)
c.1953T= (p.Ile651=)
c.1728T= (p.Ile576=)
n.2446T=
n.2460T=
2g.43877839_43877850delCA2658838102ABCG8c.1948_1959del (p.Leu650_Gly653del)
c.1945_1956del (p.Leu649_Gly652del)
c.1960_1971del (p.Leu654_Gly657del)
c.1957_1968del (p.Leu653_Gly656del)
c.1732_1743del (p.Leu578_Gly581del)
n.2450_2461del
n.2464_2475del
 gnomAD v4
2g.43877836G>ACA346671377ABCG8c.1945G>A (p.Gly649Ser)
c.1942G>A (p.Gly648Ser)
c.1957G>A (p.Gly653Ser)
c.1954G>A (p.Gly652Ser)
c.1729G>A (p.Gly577Ser)
n.2447G>A
n.2461G>A
2g.43877836G>CCA346671376ABCG8c.1945G>C (p.Gly649Arg)
c.1942G>C (p.Gly648Arg)
c.1957G>C (p.Gly653Arg)
c.1954G>C (p.Gly652Arg)
c.1729G>C (p.Gly577Arg)
n.2447G>C
n.2461G>C
2g.43877836G>TCA346671374ABCG8c.1945G>T (p.Gly649Cys)
c.1942G>T (p.Gly648Cys)
c.1957G>T (p.Gly653Cys)
c.1954G>T (p.Gly652Cys)
c.1729G>T (p.Gly577Cys)
n.2447G>T
n.2461G>T
2g.43877837G>ACA346671380ABCG8c.1946G>A (p.Gly649Asp)
c.1943G>A (p.Gly648Asp)
c.1958G>A (p.Gly653Asp)
c.1955G>A (p.Gly652Asp)
c.1730G>A (p.Gly577Asp)
n.2448G>A
n.2462G>A
2g.43877837G>CCA346671381ABCG8c.1946G>C (p.Gly649Ala)
c.1943G>C (p.Gly648Ala)
c.1958G>C (p.Gly653Ala)
c.1955G>C (p.Gly652Ala)
c.1730G>C (p.Gly577Ala)
n.2448G>C
n.2462G>C
2g.43877837G>TCA346671383ABCG8c.1946G>T (p.Gly649Val)
c.1943G>T (p.Gly648Val)
c.1958G>T (p.Gly653Val)
c.1955G>T (p.Gly652Val)
c.1730G>T (p.Gly577Val)
n.2448G>T
n.2462G>T
2g.43877838C>ACA425908318ABCG8c.1947C>A (p.Gly649=)
c.1944C>A (p.Gly648=)
c.1959C>A (p.Gly653=)
c.1956C>A (p.Gly652=)
c.1731C>A (p.Gly577=)
n.2449C>A
n.2463C>A
2g.43877838C>GCA425908320ABCG8c.1947C>G (p.Gly649=)
c.1944C>G (p.Gly648=)
c.1959C>G (p.Gly653=)
c.1956C>G (p.Gly652=)
c.1731C>G (p.Gly577=)
n.2449C>G
n.2463C>G
2g.43877838C>TCA425908319ABCG8c.1947C>T (p.Gly649=)
c.1944C>T (p.Gly648=)
c.1959C>T (p.Gly653=)
c.1956C>T (p.Gly652=)
c.1731C>T (p.Gly577=)
n.2449C>T
n.2463C>T
2g.43877839C>ACA346671385ABCG8c.1948C>A (p.Leu650Ile)
c.1945C>A (p.Leu649Ile)
c.1960C>A (p.Leu654Ile)
c.1957C>A (p.Leu653Ile)
c.1732C>A (p.Leu578Ile)
n.2450C>A
n.2464C>A
2g.43877839C>GCA346671386ABCG8c.1948C>G (p.Leu650Val)
c.1945C>G (p.Leu649Val)
c.1960C>G (p.Leu654Val)
c.1957C>G (p.Leu653Val)
c.1732C>G (p.Leu578Val)
n.2450C>G
n.2464C>G
2g.43877839C>TCA346671388ABCG8c.1948C>T (p.Leu650Phe)
c.1945C>T (p.Leu649Phe)
c.1960C>T (p.Leu654Phe)
c.1957C>T (p.Leu653Phe)
c.1732C>T (p.Leu578Phe)
n.2450C>T
n.2464C>T
2g.43877840T>ACA346671390ABCG8c.1949T>A (p.Leu650His)
c.1946T>A (p.Leu649His)
c.1961T>A (p.Leu654His)
c.1958T>A (p.Leu653His)
c.1733T>A (p.Leu578His)
n.2451T>A
n.2465T>A
 gnomAD v4
2g.43877840T>CCA346671392ABCG8c.1949T>C (p.Leu650Pro)
c.1946T>C (p.Leu649Pro)
c.1961T>C (p.Leu654Pro)
c.1958T>C (p.Leu653Pro)
c.1733T>C (p.Leu578Pro)
n.2451T>C
n.2465T>C
2g.43877840T>GCA346671394ABCG8c.1949T>G (p.Leu650Arg)
c.1946T>G (p.Leu649Arg)
c.1961T>G (p.Leu654Arg)
c.1958T>G (p.Leu653Arg)
c.1733T>G (p.Leu578Arg)
n.2451T>G
n.2465T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43877840T=CA2493965156ABCG8c.1949T= (p.Leu650=)
c.1946T= (p.Leu649=)
c.1961T= (p.Leu654=)
c.1958T= (p.Leu653=)
c.1733T= (p.Leu578=)
n.2451T=
n.2465T=
2g.43877841C>ACA425908321ABCG8c.1950C>A (p.Leu650=)
c.1947C>A (p.Leu649=)
c.1962C>A (p.Leu654=)
c.1959C>A (p.Leu653=)
c.1734C>A (p.Leu578=)
n.2452C>A
n.2466C>A
2g.43877841C=CA2493965157ABCG8c.1950C= (p.Leu650=)
c.1947C= (p.Leu649=)
c.1962C= (p.Leu654=)
c.1959C= (p.Leu653=)
c.1734C= (p.Leu578=)
n.2452C=
n.2466C=
2g.43877841C>GCA425908322ABCG8c.1950C>G (p.Leu650=)
c.1947C>G (p.Leu649=)
c.1962C>G (p.Leu654=)
c.1959C>G (p.Leu653=)
c.1734C>G (p.Leu578=)
n.2452C>G
n.2466C>G
2g.43877841C>TCA425908323ABCG8c.1950C>T (p.Leu650=)
c.1947C>T (p.Leu649=)
c.1962C>T (p.Leu654=)
c.1959C>T (p.Leu653=)
c.1734C>T (p.Leu578=)
n.2452C>T
n.2466C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.43877842A>CCA346671396ABCG8c.1951A>C (p.Ser651Arg)
c.1948A>C (p.Ser650Arg)
c.1963A>C (p.Ser655Arg)
c.1960A>C (p.Ser654Arg)
c.1735A>C (p.Ser579Arg)
n.2453A>C
n.2467A>C
 gnomAD v4
2g.43877842A>GCA346671398ABCG8c.1951A>G (p.Ser651Gly)
c.1948A>G (p.Ser650Gly)
c.1963A>G (p.Ser655Gly)
c.1960A>G (p.Ser654Gly)
c.1735A>G (p.Ser579Gly)
n.2453A>G
n.2467A>G
2g.43877842A>TCA346671400ABCG8c.1951A>T (p.Ser651Cys)
c.1948A>T (p.Ser650Cys)
c.1963A>T (p.Ser655Cys)
c.1960A>T (p.Ser654Cys)
c.1735A>T (p.Ser579Cys)
n.2453A>T
n.2467A>T
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGACA2749705968ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu650_Ser651insThrValProArgLysGlyLeuLeu)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu649_Ser650insThrValProArgLysGlyLeuLeu)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu654_Ser655insThrValProArgLysGlyLeuLeu)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu653_Ser654insThrValProArgLysGlyLeuLeu)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGA (p.Leu578_Ser579insThrValProArgLysGlyLeuLeu)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGA
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGA
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGACA2749705969ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser651ThrfsTer?)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser650ThrfsTer?)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser655ThrfsTer?)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser654ThrfsTer?)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA (p.Ser579ThrfsTer?)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGA
2g.43877842_43877843insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGTCA2749705970ABCG8c.1951_1952insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser651delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1948_1949insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser650delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1963_1964insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser655delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1960_1961insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser654delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
c.1735_1736insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT (p.Ser579delinsThrValProArgLysGlyLeuLeuArgArgGluCys)
n.2453_2454insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT
n.2467_2468insCTGTCCCCAGGAAGGGGCTCCTGAGGAGGGAGT
2g.43877843G>ACA346671406ABCG8c.1952G>A (p.Ser651Asn)
c.1949G>A (p.Ser650Asn)
c.1964G>A (p.Ser655Asn)
c.1961G>A (p.Ser654Asn)
c.1736G>A (p.Ser579Asn)
n.2454G>A
n.2468G>A
 dbSNP
2g.43877843G>CCA346671404ABCG8c.1952G>C (p.Ser651Thr)
c.1949G>C (p.Ser650Thr)
c.1964G>C (p.Ser655Thr)
c.1961G>C (p.Ser654Thr)
c.1736G>C (p.Ser579Thr)
n.2454G>C
n.2468G>C
2g.43877843G=CA2493965158ABCG8c.1952G= (p.Ser651=)
c.1949G= (p.Ser650=)
c.1964G= (p.Ser655=)
c.1961G= (p.Ser654=)
c.1736G= (p.Ser579=)
n.2454G=
n.2468G=
2g.43877843G>TCA346671402ABCG8c.1952G>T (p.Ser651Ile)
c.1949G>T (p.Ser650Ile)
c.1964G>T (p.Ser655Ile)
c.1961G>T (p.Ser654Ile)
c.1736G>T (p.Ser579Ile)
n.2454G>T
n.2468G>T
2g.43877844C>ACA346671409ABCG8c.1953C>A (p.Ser651Arg)
c.1950C>A (p.Ser650Arg)
c.1965C>A (p.Ser655Arg)
c.1962C>A (p.Ser654Arg)
c.1737C>A (p.Ser579Arg)
n.2455C>A
n.2469C>A
 dbSNP
2g.43877844C>GCA346671408ABCG8c.1953C>G (p.Ser651Arg)
c.1950C>G (p.Ser650Arg)
c.1965C>G (p.Ser655Arg)
c.1962C>G (p.Ser654Arg)
c.1737C>G (p.Ser579Arg)
n.2455C>G
n.2469C>G
2g.43877844C>TCA425908324ABCG8c.1953C>T (p.Ser651=)
c.1950C>T (p.Ser650=)
c.1965C>T (p.Ser655=)
c.1962C>T (p.Ser654=)
c.1737C>T (p.Ser579=)
n.2455C>T
n.2469C>T
 gnomAD v3 gnomAD v4
2g.43877845G>ACA1637729ABCG8c.1954G>A (p.Gly652Ser)
c.1951G>A (p.Gly651Ser)
c.1966G>A (p.Gly656Ser)
c.1963G>A (p.Gly655Ser)
c.1738G>A (p.Gly580Ser)
n.2456G>A
n.2470G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877845G>CCA346671413ABCG8c.1954G>C (p.Gly652Arg)
c.1951G>C (p.Gly651Arg)
c.1966G>C (p.Gly656Arg)
c.1963G>C (p.Gly655Arg)
c.1738G>C (p.Gly580Arg)
n.2456G>C
n.2470G>C
2g.43877845G=CA2493965159ABCG8c.1954G= (p.Gly652=)
c.1951G= (p.Gly651=)
c.1966G= (p.Gly656=)
c.1963G= (p.Gly655=)
c.1738G= (p.Gly580=)
n.2456G=
n.2470G=
2g.43877845G>TCA346671414ABCG8c.1954G>T (p.Gly652Cys)
c.1951G>T (p.Gly651Cys)
c.1966G>T (p.Gly656Cys)
c.1963G>T (p.Gly655Cys)
c.1738G>T (p.Gly580Cys)
n.2456G>T
n.2470G>T
 gnomAD v4
2g.43877846G>ACA346671416ABCG8c.1955G>A (p.Gly652Asp)
c.1952G>A (p.Gly651Asp)
c.1967G>A (p.Gly656Asp)
c.1964G>A (p.Gly655Asp)
c.1739G>A (p.Gly580Asp)
n.2457G>A
n.2471G>A
2g.43877846G>CCA346671418ABCG8c.1955G>C (p.Gly652Ala)
c.1952G>C (p.Gly651Ala)
c.1967G>C (p.Gly656Ala)
c.1964G>C (p.Gly655Ala)
c.1739G>C (p.Gly580Ala)
n.2457G>C
n.2471G>C
2g.43877846G=CA2493965160ABCG8c.1955G= (p.Gly652=)
c.1952G= (p.Gly651=)
c.1967G= (p.Gly656=)
c.1964G= (p.Gly655=)
c.1739G= (p.Gly580=)
n.2457G=
n.2471G=
2g.43877846G>TCA346671420ABCG8c.1955G>T (p.Gly652Val)
c.1952G>T (p.Gly651Val)
c.1967G>T (p.Gly656Val)
c.1964G>T (p.Gly655Val)
c.1739G>T (p.Gly580Val)
n.2457G>T
n.2471G>T
 dbSNP gnomAD v3 gnomAD v4
2g.43877847T>ACA425908327ABCG8c.1956T>A (p.Gly652=)
c.1953T>A (p.Gly651=)
c.1968T>A (p.Gly656=)
c.1965T>A (p.Gly655=)
c.1740T>A (p.Gly580=)
n.2458T>A
n.2472T>A
2g.43877847T>CCA425908326ABCG8c.1956T>C (p.Gly652=)
c.1953T>C (p.Gly651=)
c.1968T>C (p.Gly656=)
c.1965T>C (p.Gly655=)
c.1740T>C (p.Gly580=)
n.2458T>C
n.2472T>C
 dbSNP gnomAD v4
2g.43877847T>GCA425908325ABCG8c.1956T>G (p.Gly652=)
c.1953T>G (p.Gly651=)
c.1968T>G (p.Gly656=)
c.1965T>G (p.Gly655=)
c.1740T>G (p.Gly580=)
n.2458T>G
n.2472T>G
2g.43877847T=CA2493965161ABCG8c.1956T= (p.Gly652=)
c.1953T= (p.Gly651=)
c.1968T= (p.Gly656=)
c.1965T= (p.Gly655=)
c.1740T= (p.Gly580=)
n.2458T=
n.2472T=
2g.43877848G>ACA346671422ABCG8c.1957G>A (p.Gly653Ser)
c.1954G>A (p.Gly652Ser)
c.1969G>A (p.Gly657Ser)
c.1966G>A (p.Gly656Ser)
c.1741G>A (p.Gly581Ser)
n.2459G>A
n.2473G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877848G>CCA346671424ABCG8c.1957G>C (p.Gly653Arg)
c.1954G>C (p.Gly652Arg)
c.1969G>C (p.Gly657Arg)
c.1966G>C (p.Gly656Arg)
c.1741G>C (p.Gly581Arg)
n.2459G>C
n.2473G>C
 dbSNP gnomAD v2 gnomAD v4
2g.43877848G=CA2493965162ABCG8c.1957G= (p.Gly653=)
c.1954G= (p.Gly652=)
c.1969G= (p.Gly657=)
c.1966G= (p.Gly656=)
c.1741G= (p.Gly581=)
n.2459G=
n.2473G=
2g.43877848G>TCA346671426ABCG8c.1957G>T (p.Gly653Cys)
c.1954G>T (p.Gly652Cys)
c.1969G>T (p.Gly657Cys)
c.1966G>T (p.Gly656Cys)
c.1741G>T (p.Gly581Cys)
n.2459G>T
n.2473G>T
 COSMIC
2g.43877849G>ACA346671428ABCG8c.1958G>A (p.Gly653Asp)
c.1955G>A (p.Gly652Asp)
c.1970G>A (p.Gly657Asp)
c.1967G>A (p.Gly656Asp)
c.1742G>A (p.Gly581Asp)
n.2460G>A
n.2474G>A
 gnomAD v4
2g.43877849G>CCA346671430ABCG8c.1958G>C (p.Gly653Ala)
c.1955G>C (p.Gly652Ala)
c.1970G>C (p.Gly657Ala)
c.1967G>C (p.Gly656Ala)
c.1742G>C (p.Gly581Ala)
n.2460G>C
n.2474G>C
2g.43877849G>TCA346671431ABCG8c.1958G>T (p.Gly653Val)
c.1955G>T (p.Gly652Val)
c.1970G>T (p.Gly657Val)
c.1967G>T (p.Gly656Val)
c.1742G>T (p.Gly581Val)
n.2460G>T
n.2474G>T
2g.43877850C>ACA425908328ABCG8c.1959C>A (p.Gly653=)
c.1956C>A (p.Gly652=)
c.1971C>A (p.Gly657=)
c.1968C>A (p.Gly656=)
c.1743C>A (p.Gly581=)
n.2461C>A
n.2475C>A
2g.43877850C>GCA425908329ABCG8c.1959C>G (p.Gly653=)
c.1956C>G (p.Gly652=)
c.1971C>G (p.Gly657=)
c.1968C>G (p.Gly656=)
c.1743C>G (p.Gly581=)
n.2461C>G
n.2475C>G
2g.43877850C>TCA425908330ABCG8c.1959C>T (p.Gly653=)
c.1956C>T (p.Gly652=)
c.1971C>T (p.Gly657=)
c.1968C>T (p.Gly656=)
c.1743C>T (p.Gly581=)
n.2461C>T
n.2475C>T
2g.43877851T>ACA346671436ABCG8c.1960T>A (p.Phe654Ile)
c.1957T>A (p.Phe653Ile)
c.1972T>A (p.Phe658Ile)
c.1969T>A (p.Phe657Ile)
c.1744T>A (p.Phe582Ile)
n.2462T>A
n.2476T>A
2g.43877851T>CCA346671434ABCG8c.1960T>C (p.Phe654Leu)
c.1957T>C (p.Phe653Leu)
c.1972T>C (p.Phe658Leu)
c.1969T>C (p.Phe657Leu)
c.1744T>C (p.Phe582Leu)
n.2462T>C
n.2476T>C
 gnomAD v4
2g.43877851T>GCA346671432ABCG8c.1960T>G (p.Phe654Val)
c.1957T>G (p.Phe653Val)
c.1972T>G (p.Phe658Val)
c.1969T>G (p.Phe657Val)
c.1744T>G (p.Phe582Val)
n.2462T>G
n.2476T>G
2g.43877852T>ACA346671438ABCG8c.1961T>A (p.Phe654Tyr)
c.1958T>A (p.Phe653Tyr)
c.1973T>A (p.Phe658Tyr)
c.1970T>A (p.Phe657Tyr)
c.1745T>A (p.Phe582Tyr)
n.2463T>A
n.2477T>A
2g.43877852T>CCA346671440ABCG8c.1961T>C (p.Phe654Ser)
c.1958T>C (p.Phe653Ser)
c.1973T>C (p.Phe658Ser)
c.1970T>C (p.Phe657Ser)
c.1745T>C (p.Phe582Ser)
n.2463T>C
n.2477T>C
 gnomAD v4
2g.43877852T>GCA346671442ABCG8c.1961T>G (p.Phe654Cys)
c.1958T>G (p.Phe653Cys)
c.1973T>G (p.Phe658Cys)
c.1970T>G (p.Phe657Cys)
c.1745T>G (p.Phe582Cys)
n.2463T>G
n.2477T>G
 gnomAD v4
2g.43877853C>ACA346671444ABCG8c.1962C>A (p.Phe654Leu)
c.1959C>A (p.Phe653Leu)
c.1974C>A (p.Phe658Leu)
c.1971C>A (p.Phe657Leu)
c.1746C>A (p.Phe582Leu)
n.2464C>A
n.2478C>A
2g.43877853C>GCA346671446ABCG8c.1962C>G (p.Phe654Leu)
c.1959C>G (p.Phe653Leu)
c.1974C>G (p.Phe658Leu)
c.1971C>G (p.Phe657Leu)
c.1746C>G (p.Phe582Leu)
n.2464C>G
n.2478C>G
2g.43877853C>TCA425908331ABCG8c.1962C>T (p.Phe654=)
c.1959C>T (p.Phe653=)
c.1974C>T (p.Phe658=)
c.1971C>T (p.Phe657=)
c.1746C>T (p.Phe582=)
n.2464C>T
n.2478C>T
 gnomAD v4
2g.43877854A=CA2493965163ABCG8c.1963A= (p.Met655=)
c.1960A= (p.Met654=)
c.1975A= (p.Met659=)
c.1972A= (p.Met658=)
c.1747A= (p.Met583=)
n.2465A=
n.2479A=
2g.43877854A>CCA346671448ABCG8c.1963A>C (p.Met655Leu)
c.1960A>C (p.Met654Leu)
c.1975A>C (p.Met659Leu)
c.1972A>C (p.Met658Leu)
c.1747A>C (p.Met583Leu)
n.2465A>C
n.2479A>C
2g.43877854A>GCA1637730ABCG8c.1963A>G (p.Met655Val)
c.1960A>G (p.Met654Val)
c.1975A>G (p.Met659Val)
c.1972A>G (p.Met658Val)
c.1747A>G (p.Met583Val)
n.2465A>G
n.2479A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877854A>TCA346671450ABCG8c.1963A>T (p.Met655Leu)
c.1960A>T (p.Met654Leu)
c.1975A>T (p.Met659Leu)
c.1972A>T (p.Met658Leu)
c.1747A>T (p.Met583Leu)
n.2465A>T
n.2479A>T
2g.43877855T>ACA346671451ABCG8c.1964T>A (p.Met655Lys)
c.1961T>A (p.Met654Lys)
c.1976T>A (p.Met659Lys)
c.1973T>A (p.Met658Lys)
c.1748T>A (p.Met583Lys)
n.2466T>A
n.2480T>A
2g.43877855T>CCA346671452ABCG8c.1964T>C (p.Met655Thr)
c.1961T>C (p.Met654Thr)
c.1976T>C (p.Met659Thr)
c.1973T>C (p.Met658Thr)
c.1748T>C (p.Met583Thr)
n.2466T>C
n.2480T>C
 gnomAD v4
2g.43877855T>GCA346671453ABCG8c.1964T>G (p.Met655Arg)
c.1961T>G (p.Met654Arg)
c.1976T>G (p.Met659Arg)
c.1973T>G (p.Met658Arg)
c.1748T>G (p.Met583Arg)
n.2466T>G
n.2480T>G
2g.43877856G>ACA346671454ABCG8c.1965G>A (p.Met655Ile)
c.1962G>A (p.Met654Ile)
c.1977G>A (p.Met659Ile)
c.1974G>A (p.Met658Ile)
c.1749G>A (p.Met583Ile)
n.2467G>A
n.2481G>A
2g.43877856G>CCA346671455ABCG8c.1965G>C (p.Met655Ile)
c.1962G>C (p.Met654Ile)
c.1977G>C (p.Met659Ile)
c.1974G>C (p.Met658Ile)
c.1749G>C (p.Met583Ile)
n.2467G>C
n.2481G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.43877856G=CA2493965164ABCG8c.1965G= (p.Met655=)
c.1962G= (p.Met654=)
c.1977G= (p.Met659=)
c.1974G= (p.Met658=)
c.1749G= (p.Met583=)
n.2467G=
n.2481G=
2g.43877856G>TCA346671456ABCG8c.1965G>T (p.Met655Ile)
c.1962G>T (p.Met654Ile)
c.1977G>T (p.Met659Ile)
c.1974G>T (p.Met658Ile)
c.1749G>T (p.Met583Ile)
n.2467G>T
n.2481G>T
2g.43877857G>ACA346671459ABCG8c.1966G>A (p.Val656Ile)
c.1963G>A (p.Val655Ile)
c.1978G>A (p.Val660Ile)
c.1975G>A (p.Val659Ile)
c.1750G>A (p.Val584Ile)
n.2468G>A
n.2482G>A
 gnomAD v4
2g.43877857G>CCA346671460ABCG8c.1966G>C (p.Val656Leu)
c.1963G>C (p.Val655Leu)
c.1978G>C (p.Val660Leu)
c.1975G>C (p.Val659Leu)
c.1750G>C (p.Val584Leu)
n.2468G>C
n.2482G>C
2g.43877857G>TCA346671457ABCG8c.1966G>T (p.Val656Phe)
c.1963G>T (p.Val655Phe)
c.1978G>T (p.Val660Phe)
c.1975G>T (p.Val659Phe)
c.1750G>T (p.Val584Phe)
n.2468G>T
n.2482G>T
2g.43877858T>ACA346671461ABCG8c.1967T>A (p.Val656Asp)
c.1964T>A (p.Val655Asp)
c.1979T>A (p.Val660Asp)
c.1976T>A (p.Val659Asp)
c.1751T>A (p.Val584Asp)
n.2469T>A
n.2483T>A
2g.43877858T>CCA346671462ABCG8c.1967T>C (p.Val656Ala)
c.1964T>C (p.Val655Ala)
c.1979T>C (p.Val660Ala)
c.1976T>C (p.Val659Ala)
c.1751T>C (p.Val584Ala)
n.2469T>C
n.2483T>C
 gnomAD v4
2g.43877858T>GCA346671463ABCG8c.1967T>G (p.Val656Gly)
c.1964T>G (p.Val655Gly)
c.1979T>G (p.Val660Gly)
c.1976T>G (p.Val659Gly)
c.1751T>G (p.Val584Gly)
n.2469T>G
n.2483T>G
 gnomAD v4
2g.43877859C>ACA425908332ABCG8c.1968C>A (p.Val656=)
c.1965C>A (p.Val655=)
c.1980C>A (p.Val660=)
c.1977C>A (p.Val659=)
c.1752C>A (p.Val584=)
n.2470C>A
n.2484C>A
 dbSNP gnomAD v4
2g.43877859C=CA2493965165ABCG8c.1968C= (p.Val656=)
c.1965C= (p.Val655=)
c.1980C= (p.Val660=)
c.1977C= (p.Val659=)
c.1752C= (p.Val584=)
n.2470C=
n.2484C=
2g.43877859C>GCA425908333ABCG8c.1968C>G (p.Val656=)
c.1965C>G (p.Val655=)
c.1980C>G (p.Val660=)
c.1977C>G (p.Val659=)
c.1752C>G (p.Val584=)
n.2470C>G
n.2484C>G
 gnomAD v4
2g.43877859C>TCA425908334ABCG8c.1968C>T (p.Val656=)
c.1965C>T (p.Val655=)
c.1980C>T (p.Val660=)
c.1977C>T (p.Val659=)
c.1752C>T (p.Val584=)
n.2470C>T
n.2484C>T
 gnomAD v4
2g.43877860C>ACA346671464ABCG8c.1969C>A (p.Leu657Met)
c.1966C>A (p.Leu656Met)
c.1981C>A (p.Leu661Met)
c.1978C>A (p.Leu660Met)
c.1753C>A (p.Leu585Met)
n.2471C>A
n.2485C>A
2g.43877860C>GCA346671465ABCG8c.1969C>G (p.Leu657Val)
c.1966C>G (p.Leu656Val)
c.1981C>G (p.Leu661Val)
c.1978C>G (p.Leu660Val)
c.1753C>G (p.Leu585Val)
n.2471C>G
n.2485C>G
2g.43877860C>TCA425908335ABCG8c.1969C>T (p.Leu657=)
c.1966C>T (p.Leu656=)
c.1981C>T (p.Leu661=)
c.1978C>T (p.Leu660=)
c.1753C>T (p.Leu585=)
n.2471C>T
n.2485C>T
 gnomAD v4
2g.43877861T>ACA346671466ABCG8c.1970T>A (p.Leu657Gln)
c.1967T>A (p.Leu656Gln)
c.1982T>A (p.Leu661Gln)
c.1979T>A (p.Leu660Gln)
c.1754T>A (p.Leu585Gln)
n.2472T>A
n.2486T>A
 gnomAD v4
2g.43877861T>CCA346671467ABCG8c.1970T>C (p.Leu657Pro)
c.1967T>C (p.Leu656Pro)
c.1982T>C (p.Leu661Pro)
c.1979T>C (p.Leu660Pro)
c.1754T>C (p.Leu585Pro)
n.2472T>C
n.2486T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.43877861T>GCA346671468ABCG8c.1970T>G (p.Leu657Arg)
c.1967T>G (p.Leu656Arg)
c.1982T>G (p.Leu661Arg)
c.1979T>G (p.Leu660Arg)
c.1754T>G (p.Leu585Arg)
n.2472T>G
n.2486T>G
2g.43877861T=CA2493965166ABCG8c.1970T= (p.Leu657=)
c.1967T= (p.Leu656=)
c.1982T= (p.Leu661=)
c.1979T= (p.Leu660=)
c.1754T= (p.Leu585=)
n.2472T=
n.2486T=
2g.43877862G>ACA425908336ABCG8c.1971G>A (p.Leu657=)
c.1968G>A (p.Leu656=)
c.1983G>A (p.Leu661=)
c.1980G>A (p.Leu660=)
c.1755G>A (p.Leu585=)
n.2473G>A
n.2487G>A
 gnomAD v4
2g.43877862G>CCA425908337ABCG8c.1971G>C (p.Leu657=)
c.1968G>C (p.Leu656=)
c.1983G>C (p.Leu661=)
c.1980G>C (p.Leu660=)
c.1755G>C (p.Leu585=)
n.2473G>C
n.2487G>C
 gnomAD v4
2g.43877862G>TCA425908338ABCG8c.1971G>T (p.Leu657=)
c.1968G>T (p.Leu656=)
c.1983G>T (p.Leu661=)
c.1980G>T (p.Leu660=)
c.1755G>T (p.Leu585=)
n.2473G>T
n.2487G>T
2g.43877862_43877864dupCA2658838103ABCG8c.1971_1973dup (p.Tyr658Ter)
c.1968_1970dup (p.Tyr657Ter)
c.1983_1985dup (p.Tyr662Ter)
c.1980_1982dup (p.Tyr661Ter)
c.1755_1757dup (p.Tyr586Ter)
n.2473_2475dup
n.2487_2489dup
 gnomAD v4
2g.43877863T>ACA346671469ABCG8c.1972T>A (p.Tyr658Asn)
c.1969T>A (p.Tyr657Asn)
c.1984T>A (p.Tyr662Asn)
c.1981T>A (p.Tyr661Asn)
c.1756T>A (p.Tyr586Asn)
n.2474T>A
n.2488T>A
2g.43877863T>CCA346671470ABCG8c.1972T>C (p.Tyr658His)
c.1969T>C (p.Tyr657His)
c.1984T>C (p.Tyr662His)
c.1981T>C (p.Tyr661His)
c.1756T>C (p.Tyr586His)
n.2474T>C
n.2488T>C
2g.43877863T>GCA346671471ABCG8c.1972T>G (p.Tyr658Asp)
c.1969T>G (p.Tyr657Asp)
c.1984T>G (p.Tyr662Asp)
c.1981T>G (p.Tyr661Asp)
c.1756T>G (p.Tyr586Asp)
n.2474T>G
n.2488T>G
2g.43877864A>CCA346671474ABCG8c.1973A>C (p.Tyr658Ser)
c.1970A>C (p.Tyr657Ser)
c.1985A>C (p.Tyr662Ser)
c.1982A>C (p.Tyr661Ser)
c.1757A>C (p.Tyr586Ser)
n.2475A>C
n.2489A>C
2g.43877864A>GCA346671473ABCG8c.1973A>G (p.Tyr658Cys)
c.1970A>G (p.Tyr657Cys)
c.1985A>G (p.Tyr662Cys)
c.1982A>G (p.Tyr661Cys)
c.1757A>G (p.Tyr586Cys)
n.2475A>G
n.2489A>G
2g.43877864A>TCA346671472ABCG8c.1973A>T (p.Tyr658Phe)
c.1970A>T (p.Tyr657Phe)
c.1985A>T (p.Tyr662Phe)
c.1982A>T (p.Tyr661Phe)
c.1757A>T (p.Tyr586Phe)
n.2475A>T
n.2489A>T
2g.43877865C>ACA346671475ABCG8c.1974C>A (p.Tyr658Ter)
c.1971C>A (p.Tyr657Ter)
c.1986C>A (p.Tyr662Ter)
c.1983C>A (p.Tyr661Ter)
c.1758C>A (p.Tyr586Ter)
n.2476C>A
n.2490C>A
2g.43877865C=CA2493965167ABCG8c.1974C= (p.Tyr658=)
c.1971C= (p.Tyr657=)
c.1986C= (p.Tyr662=)
c.1983C= (p.Tyr661=)
c.1758C= (p.Tyr586=)
n.2476C=
n.2490C=
2g.43877865C>GCA253362ABCG8c.1974C>G (p.Tyr658Ter)
c.1971C>G (p.Tyr657Ter)
c.1986C>G (p.Tyr662Ter)
c.1983C>G (p.Tyr661Ter)
c.1758C>G (p.Tyr586Ter)
n.2476C>G
n.2490C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.43877865C>TCA425908339ABCG8c.1974C>T (p.Tyr658=)
c.1971C>T (p.Tyr657=)
c.1986C>T (p.Tyr662=)
c.1983C>T (p.Tyr661=)
c.1758C>T (p.Tyr586=)
n.2476C>T
n.2490C>T
 gnomAD v4
2g.43877866T>ACA346671476ABCG8c.1975T>A (p.Tyr659Asn)
c.1972T>A (p.Tyr658Asn)
c.1987T>A (p.Tyr663Asn)
c.1984T>A (p.Tyr662Asn)
c.1759T>A (p.Tyr587Asn)
n.2477T>A
n.2491T>A
 gnomAD v4
2g.43877866T>CCA346671477ABCG8c.1975T>C (p.Tyr659His)
c.1972T>C (p.Tyr658His)
c.1987T>C (p.Tyr663His)
c.1984T>C (p.Tyr662His)
c.1759T>C (p.Tyr587His)
n.2477T>C
n.2491T>C
 gnomAD v4
2g.43877866T>GCA346671478ABCG8c.1975T>G (p.Tyr659Asp)
c.1972T>G (p.Tyr658Asp)
c.1987T>G (p.Tyr663Asp)
c.1984T>G (p.Tyr662Asp)
c.1759T>G (p.Tyr587Asp)
n.2477T>G
n.2491T>G
2g.43877867A>CCA346671479ABCG8c.1976A>C (p.Tyr659Ser)
c.1973A>C (p.Tyr658Ser)
c.1988A>C (p.Tyr663Ser)
c.1985A>C (p.Tyr662Ser)
c.1760A>C (p.Tyr587Ser)
n.2478A>C
n.2492A>C
2g.43877867A>GCA346671480ABCG8c.1976A>G (p.Tyr659Cys)
c.1973A>G (p.Tyr658Cys)
c.1988A>G (p.Tyr663Cys)
c.1985A>G (p.Tyr662Cys)
c.1760A>G (p.Tyr587Cys)
n.2478A>G
n.2492A>G
2g.43877867A>TCA346671481ABCG8c.1976A>T (p.Tyr659Phe)
c.1973A>T (p.Tyr658Phe)
c.1988A>T (p.Tyr663Phe)
c.1985A>T (p.Tyr662Phe)
c.1760A>T (p.Tyr587Phe)
n.2478A>T
n.2492A>T
2g.43877868C>ACA346671482ABCG8c.1977C>A (p.Tyr659Ter)
c.1974C>A (p.Tyr658Ter)
c.1989C>A (p.Tyr663Ter)
c.1986C>A (p.Tyr662Ter)
c.1761C>A (p.Tyr587Ter)
n.2479C>A
n.2493C>A
 dbSNP gnomAD v3 gnomAD v4
2g.43877868C=CA2493965168ABCG8c.1977C= (p.Tyr659=)
c.1974C= (p.Tyr658=)
c.1989C= (p.Tyr663=)
c.1986C= (p.Tyr662=)
c.1761C= (p.Tyr587=)
n.2479C=
n.2493C=
2g.43877868C>GCA346671483ABCG8c.1977C>G (p.Tyr659Ter)
c.1974C>G (p.Tyr658Ter)
c.1989C>G (p.Tyr663Ter)
c.1986C>G (p.Tyr662Ter)
c.1761C>G (p.Tyr587Ter)
n.2479C>G
n.2493C>G
2g.43877868C>TCA46474781ABCG8c.1977C>T (p.Tyr659=)
c.1974C>T (p.Tyr658=)
c.1989C>T (p.Tyr663=)
c.1986C>T (p.Tyr662=)
c.1761C>T (p.Tyr587=)
n.2479C>T
n.2493C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877869G>ACA346671484ABCG8c.1978G>A (p.Val660Met)
c.1975G>A (p.Val659Met)
c.1990G>A (p.Val664Met)
c.1987G>A (p.Val663Met)
c.1762G>A (p.Val588Met)
n.2480G>A
n.2494G>A
2g.43877869G>CCA1637731ABCG8c.1978G>C (p.Val660Leu)
c.1975G>C (p.Val659Leu)
c.1990G>C (p.Val664Leu)
c.1987G>C (p.Val663Leu)
c.1762G>C (p.Val588Leu)
n.2480G>C
n.2494G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877869G=CA2493965169ABCG8c.1978G= (p.Val660=)
c.1975G= (p.Val659=)
c.1990G= (p.Val664=)
c.1987G= (p.Val663=)
c.1762G= (p.Val588=)
n.2480G=
n.2494G=
2g.43877869G>TCA346671485ABCG8c.1978G>T (p.Val660Leu)
c.1975G>T (p.Val659Leu)
c.1990G>T (p.Val664Leu)
c.1987G>T (p.Val663Leu)
c.1762G>T (p.Val588Leu)
n.2480G>T
n.2494G>T
2g.43877870T>ACA346671487ABCG8c.1979T>A (p.Val660Glu)
c.1976T>A (p.Val659Glu)
c.1991T>A (p.Val664Glu)
c.1988T>A (p.Val663Glu)
c.1763T>A (p.Val588Glu)
n.2481T>A
n.2495T>A
2g.43877870T>CCA346671488ABCG8c.1979T>C (p.Val660Ala)
c.1976T>C (p.Val659Ala)
c.1991T>C (p.Val664Ala)
c.1988T>C (p.Val663Ala)
c.1763T>C (p.Val588Ala)
n.2481T>C
n.2495T>C
2g.43877870T>GCA346671486ABCG8c.1979T>G (p.Val660Gly)
c.1976T>G (p.Val659Gly)
c.1991T>G (p.Val664Gly)
c.1988T>G (p.Val663Gly)
c.1763T>G (p.Val588Gly)
n.2481T>G
n.2495T>G
2g.43877871G>ACA425908340ABCG8c.1980G>A (p.Val660=)
c.1977G>A (p.Val659=)
c.1992G>A (p.Val664=)
c.1989G>A (p.Val663=)
c.1764G>A (p.Val588=)
n.2482G>A
n.2496G>A
2g.43877871G>CCA425908341ABCG8c.1980G>C (p.Val660=)
c.1977G>C (p.Val659=)
c.1992G>C (p.Val664=)
c.1989G>C (p.Val663=)
c.1764G>C (p.Val588=)
n.2482G>C
n.2496G>C
2g.43877871G>TCA425908342ABCG8c.1980G>T (p.Val660=)
c.1977G>T (p.Val659=)
c.1992G>T (p.Val664=)
c.1989G>T (p.Val663=)
c.1764G>T (p.Val588=)
n.2482G>T
n.2496G>T
2g.43877872T>ACA346671489ABCG8c.1981T>A (p.Ser661Thr)
c.1978T>A (p.Ser660Thr)
c.1993T>A (p.Ser665Thr)
c.1990T>A (p.Ser664Thr)
c.1765T>A (p.Ser589Thr)
n.2483T>A
n.2497T>A
2g.43877872T>CCA346671491ABCG8c.1981T>C (p.Ser661Pro)
c.1978T>C (p.Ser660Pro)
c.1993T>C (p.Ser665Pro)
c.1990T>C (p.Ser664Pro)
c.1765T>C (p.Ser589Pro)
n.2483T>C
n.2497T>C
2g.43877872T>GCA346671490ABCG8c.1981T>G (p.Ser661Ala)
c.1978T>G (p.Ser660Ala)
c.1993T>G (p.Ser665Ala)
c.1990T>G (p.Ser664Ala)
c.1765T>G (p.Ser589Ala)
n.2483T>G
n.2497T>G
2g.43877873C>ACA346671492ABCG8c.1982C>A (p.Ser661Tyr)
c.1979C>A (p.Ser660Tyr)
c.1994C>A (p.Ser665Tyr)
c.1991C>A (p.Ser664Tyr)
c.1766C>A (p.Ser589Tyr)
n.2484C>A
n.2498C>A
2g.43877873C>GCA346671494ABCG8c.1982C>G (p.Ser661Cys)
c.1979C>G (p.Ser660Cys)
c.1994C>G (p.Ser665Cys)
c.1991C>G (p.Ser664Cys)
c.1766C>G (p.Ser589Cys)
n.2484C>G
n.2498C>G
2g.43877873C>TCA346671493ABCG8c.1982C>T (p.Ser661Phe)
c.1979C>T (p.Ser660Phe)
c.1994C>T (p.Ser665Phe)
c.1991C>T (p.Ser664Phe)
c.1766C>T (p.Ser589Phe)
n.2484C>T
n.2498C>T
2g.43877874C>ACA425908343ABCG8c.1983C>A (p.Ser661=)
c.1980C>A (p.Ser660=)
c.1995C>A (p.Ser665=)
c.1992C>A (p.Ser664=)
c.1767C>A (p.Ser589=)
n.2485C>A
n.2499C>A
 dbSNP gnomAD v2 gnomAD v4
2g.43877874C=CA2493965170ABCG8c.1983C= (p.Ser661=)
c.1980C= (p.Ser660=)
c.1995C= (p.Ser665=)
c.1992C= (p.Ser664=)
c.1767C= (p.Ser589=)
n.2485C=
n.2499C=
2g.43877874C>GCA425908344ABCG8c.1983C>G (p.Ser661=)
c.1980C>G (p.Ser660=)
c.1995C>G (p.Ser665=)
c.1992C>G (p.Ser664=)
c.1767C>G (p.Ser589=)
n.2485C>G
n.2499C>G
2g.43877874C>TCA1637732ABCG8c.1983C>T (p.Ser661=)
c.1980C>T (p.Ser660=)
c.1995C>T (p.Ser665=)
c.1992C>T (p.Ser664=)
c.1767C>T (p.Ser589=)
n.2485C>T
n.2499C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877875T>ACA346671496ABCG8c.1984T>A (p.Leu662Ile)
c.1981T>A (p.Leu661Ile)
c.1996T>A (p.Leu666Ile)
c.1993T>A (p.Leu665Ile)
c.1768T>A (p.Leu590Ile)
n.2486T>A
n.2500T>A
2g.43877875T>CCA425908345ABCG8c.1984T>C (p.Leu662=)
c.1981T>C (p.Leu661=)
c.1996T>C (p.Leu666=)
c.1993T>C (p.Leu665=)
c.1768T>C (p.Leu590=)
n.2486T>C
n.2500T>C
2g.43877875T>GCA346671495ABCG8c.1984T>G (p.Leu662Val)
c.1981T>G (p.Leu661Val)
c.1996T>G (p.Leu666Val)
c.1993T>G (p.Leu665Val)
c.1768T>G (p.Leu590Val)
n.2486T>G
n.2500T>G
2g.43877876T>ACA346671497ABCG8c.1985T>A (p.Leu662Ter)
c.1982T>A (p.Leu661Ter)
c.1997T>A (p.Leu666Ter)
c.1994T>A (p.Leu665Ter)
c.1769T>A (p.Leu590Ter)
n.2487T>A
n.2501T>A
2g.43877876T>CCA346671498ABCG8c.1985T>C (p.Leu662Ser)
c.1982T>C (p.Leu661Ser)
c.1997T>C (p.Leu666Ser)
c.1994T>C (p.Leu665Ser)
c.1769T>C (p.Leu590Ser)
n.2487T>C
n.2501T>C
2g.43877876T>GCA346671499ABCG8c.1985T>G (p.Leu662Ter)
c.1982T>G (p.Leu661Ter)
c.1997T>G (p.Leu666Ter)
c.1994T>G (p.Leu665Ter)
c.1769T>G (p.Leu590Ter)
n.2487T>G
n.2501T>G
2g.43877877A>CCA346671500ABCG8c.1986A>C (p.Leu662Phe)
c.1983A>C (p.Leu661Phe)
c.1998A>C (p.Leu666Phe)
c.1995A>C (p.Leu665Phe)
c.1770A>C (p.Leu590Phe)
n.2488A>C
n.2502A>C
2g.43877877A>GCA425908346ABCG8c.1986A>G (p.Leu662=)
c.1983A>G (p.Leu661=)
c.1998A>G (p.Leu666=)
c.1995A>G (p.Leu665=)
c.1770A>G (p.Leu590=)
n.2488A>G
n.2502A>G
2g.43877877A>TCA346671501ABCG8c.1986A>T (p.Leu662Phe)
c.1983A>T (p.Leu661Phe)
c.1998A>T (p.Leu666Phe)
c.1995A>T (p.Leu665Phe)
c.1770A>T (p.Leu590Phe)
n.2488A>T
n.2502A>T
2g.43877878A=CA2493965171ABCG8c.1987A= (p.Arg663=)
c.1984A= (p.Arg662=)
c.1999A= (p.Arg667=)
c.1996A= (p.Arg666=)
c.1771A= (p.Arg591=)
n.2489A=
n.2503A=
2g.43877878A>CCA425908347ABCG8c.1987A>C (p.Arg663=)
c.1984A>C (p.Arg662=)
c.1999A>C (p.Arg667=)
c.1996A>C (p.Arg666=)
c.1771A>C (p.Arg591=)
n.2489A>C
n.2503A>C
2g.43877878A>GCA1637733ABCG8c.1987A>G (p.Arg663Gly)
c.1984A>G (p.Arg662Gly)
c.1999A>G (p.Arg667Gly)
c.1996A>G (p.Arg666Gly)
c.1771A>G (p.Arg591Gly)
n.2489A>G
n.2503A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.43877878A>TCA346671502ABCG8c.1987A>T (p.Arg663Trp)
c.1984A>T (p.Arg662Trp)
c.1999A>T (p.Arg667Trp)
c.1996A>T (p.Arg666Trp)
c.1771A>T (p.Arg591Trp)
n.2489A>T
n.2503A>T
2g.43877879G>ACA346671503ABCG8c.1988G>A (p.Arg663Lys)
c.1985G>A (p.Arg662Lys)
c.2000G>A (p.Arg667Lys)
c.1997G>A (p.Arg666Lys)
c.1772G>A (p.Arg591Lys)
n.2490G>A
n.2504G>A
2g.43877879G>CCA346671504ABCG8c.1988G>C (p.Arg663Thr)
c.1985G>C (p.Arg662Thr)
c.2000G>C (p.Arg667Thr)
c.1997G>C (p.Arg666Thr)
c.1772G>C (p.Arg591Thr)
n.2490G>C
n.2504G>C
2g.43877879G>TCA346671505ABCG8c.1988G>T (p.Arg663Met)
c.1985G>T (p.Arg662Met)
c.2000G>T (p.Arg667Met)
c.1997G>T (p.Arg666Met)
c.1772G>T (p.Arg591Met)
n.2490G>T
n.2504G>T
2g.43877880G>ACA425908348ABCG8c.1989G>A (p.Arg663=)
c.1986G>A (p.Arg662=)
c.2001G>A (p.Arg667=)
c.1998G>A (p.Arg666=)
c.1773G>A (p.Arg591=)
n.2491G>A
n.2505G>A
2g.43877880G>CCA346671506ABCG8c.1989G>C (p.Arg663Ser)
c.1986G>C (p.Arg662Ser)
c.2001G>C (p.Arg667Ser)
c.1998G>C (p.Arg666Ser)
c.1773G>C (p.Arg591Ser)
n.2491G>C
n.2505G>C
2g.43877880G=CA2493965172ABCG8c.1989G= (p.Arg663=)
c.1986G= (p.Arg662=)
c.2001G= (p.Arg667=)
c.1998G= (p.Arg666=)
c.1773G= (p.Arg591=)
n.2491G=
n.2505G=
2g.43877880G>TCA346671507ABCG8c.1989G>T (p.Arg663Ser)
c.1986G>T (p.Arg662Ser)
c.2001G>T (p.Arg667Ser)
c.1998G>T (p.Arg666Ser)
c.1773G>T (p.Arg591Ser)
n.2491G>T
n.2505G>T
 dbSNP
2g.43877881T>ACA346671508ABCG8c.1990T>A (p.Phe664Ile)
c.1987T>A (p.Phe663Ile)
c.2002T>A (p.Phe668Ile)
c.1999T>A (p.Phe667Ile)
c.1774T>A (p.Phe592Ile)
n.2492T>A
n.2506T>A
2g.43877881T>CCA346671510ABCG8c.1990T>C (p.Phe664Leu)
c.1987T>C (p.Phe663Leu)
c.2002T>C (p.Phe668Leu)
c.1999T>C (p.Phe667Leu)
c.1774T>C (p.Phe592Leu)
n.2492T>C
n.2506T>C
 dbSNP gnomAD v3 gnomAD v4
2g.43877881T>GCA346671509ABCG8c.1990T>G (p.Phe664Val)
c.1987T>G (p.Phe663Val)
c.2002T>G (p.Phe668Val)
c.1999T>G (p.Phe667Val)
c.1774T>G (p.Phe592Val)
n.2492T>G
n.2506T>G
2g.43877881T=CA2493965173ABCG8c.1990T= (p.Phe664=)
c.1987T= (p.Phe663=)
c.2002T= (p.Phe668=)
c.1999T= (p.Phe667=)
c.1774T= (p.Phe592=)
n.2492T=
n.2506T=
2g.43877882T>ACA346671511ABCG8c.1991T>A (p.Phe664Tyr)
c.1988T>A (p.Phe663Tyr)
c.2003T>A (p.Phe668Tyr)
c.2000T>A (p.Phe667Tyr)
c.1775T>A (p.Phe592Tyr)
n.2493T>A
n.2507T>A
2g.43877882T>CCA346671512ABCG8c.1991T>C (p.Phe664Ser)
c.1988T>C (p.Phe663Ser)
c.2003T>C (p.Phe668Ser)
c.2000T>C (p.Phe667Ser)
c.1775T>C (p.Phe592Ser)
n.2493T>C
n.2507T>C
 dbSNP gnomAD v3 gnomAD v4
2g.43877882T>GCA346671514ABCG8c.1991T>G (p.Phe664Cys)
c.1988T>G (p.Phe663Cys)
c.2003T>G (p.Phe668Cys)
c.2000T>G (p.Phe667Cys)
c.1775T>G (p.Phe592Cys)
n.2493T>G
n.2507T>G
 gnomAD v4
2g.43877882T=CA2493965174ABCG8c.1991T= (p.Phe664=)
c.1988T= (p.Phe663=)
c.2003T= (p.Phe668=)
c.2000T= (p.Phe667=)
c.1775T= (p.Phe592=)
n.2493T=
n.2507T=
2g.43877883C>ACA346671516ABCG8c.1992C>A (p.Phe664Leu)
c.1989C>A (p.Phe663Leu)
c.2004C>A (p.Phe668Leu)
c.2001C>A (p.Phe667Leu)
c.1776C>A (p.Phe592Leu)
n.2494C>A
n.2508C>A
2g.43877883C>GCA346671518ABCG8c.1992C>G (p.Phe664Leu)
c.1989C>G (p.Phe663Leu)
c.2004C>G (p.Phe668Leu)
c.2001C>G (p.Phe667Leu)
c.1776C>G (p.Phe592Leu)
n.2494C>G
n.2508C>G
2g.43877883C>TCA425908350ABCG8c.1992C>T (p.Phe664=)
c.1989C>T (p.Phe663=)
c.2004C>T (p.Phe668=)
c.2001C>T (p.Phe667=)
c.1776C>T (p.Phe592=)
n.2494C>T
n.2508C>T
 gnomAD v4
2g.43877884A=CA2493965175ABCG8c.1993A= (p.Ile665=)
c.1990A= (p.Ile664=)
c.2005A= (p.Ile669=)
c.2002A= (p.Ile668=)
c.1777A= (p.Ile593=)
n.2495A=
n.2509A=
2g.43877884A>CCA346671520ABCG8c.1993A>C (p.Ile665Leu)
c.1990A>C (p.Ile664Leu)
c.2005A>C (p.Ile669Leu)
c.2002A>C (p.Ile668Leu)
c.1777A>C (p.Ile593Leu)
n.2495A>C
n.2509A>C
 dbSNP
2g.43877884A>GCA346671522ABCG8c.1993A>G (p.Ile665Val)
c.1990A>G (p.Ile664Val)
c.2005A>G (p.Ile669Val)
c.2002A>G (p.Ile668Val)
c.1777A>G (p.Ile593Val)
n.2495A>G
n.2509A>G
2g.43877884A>TCA346671524ABCG8c.1993A>T (p.Ile665Phe)
c.1990A>T (p.Ile664Phe)
c.2005A>T (p.Ile669Phe)
c.2002A>T (p.Ile668Phe)
c.1777A>T (p.Ile593Phe)
n.2495A>T
n.2509A>T
2g.43877885T>ACA346671526ABCG8c.1994T>A (p.Ile665Asn)
c.1991T>A (p.Ile664Asn)
c.2006T>A (p.Ile669Asn)
c.2003T>A (p.Ile668Asn)
c.1778T>A (p.Ile593Asn)
n.2496T>A
n.2510T>A
2g.43877885T>CCA346671528ABCG8c.1994T>C (p.Ile665Thr)
c.1991T>C (p.Ile664Thr)
c.2006T>C (p.Ile669Thr)
c.2003T>C (p.Ile668Thr)
c.1778T>C (p.Ile593Thr)
n.2496T>C
n.2510T>C
 gnomAD v4
2g.43877885T>GCA46474804ABCG8c.1994T>G (p.Ile665Ser)
c.1991T>G (p.Ile664Ser)
c.2006T>G (p.Ile669Ser)
c.2003T>G (p.Ile668Ser)
c.1778T>G (p.Ile593Ser)
n.2496T>G
n.2510T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.43877885T=CA2493965176ABCG8c.1994T= (p.Ile665=)
c.1991T= (p.Ile664=)
c.2006T= (p.Ile669=)
c.2003T= (p.Ile668=)
c.1778T= (p.Ile593=)
n.2496T=
n.2510T=
2g.43877886C>ACA425908351ABCG8c.1995C>A (p.Ile665=)
c.1992C>A (p.Ile664=)
c.2007C>A (p.Ile669=)
c.2004C>A (p.Ile668=)
c.1779C>A (p.Ile593=)
n.2497C>A
n.2511C>A
2g.43877886C>GCA346671530ABCG8c.1995C>G (p.Ile665Met)
c.1992C>G (p.Ile664Met)
c.2007C>G (p.Ile669Met)
c.2004C>G (p.Ile668Met)
c.1779C>G (p.Ile593Met)
n.2497C>G
n.2511C>G
 gnomAD v4
2g.43877886C>TCA425908352ABCG8c.1995C>T (p.Ile665=)
c.1992C>T (p.Ile664=)
c.2007C>T (p.Ile669=)
c.2004C>T (p.Ile668=)
c.1779C>T (p.Ile593=)
n.2497C>T
n.2511C>T
2g.43877887A>CCA346671536ABCG8c.1996A>C (p.Lys666Gln)
c.1993A>C (p.Lys665Gln)
c.2008A>C (p.Lys670Gln)
c.2005A>C (p.Lys669Gln)
c.1780A>C (p.Lys594Gln)
n.2498A>C
n.2512A>C
 gnomAD v4
2g.43877887A>GCA346671533ABCG8c.1996A>G (p.Lys666Glu)
c.1993A>G (p.Lys665Glu)
c.2008A>G (p.Lys670Glu)
c.2005A>G (p.Lys669Glu)
c.1780A>G (p.Lys594Glu)
n.2498A>G
n.2512A>G
2g.43877887A>TCA346671534ABCG8c.1996A>T (p.Lys666Ter)
c.1993A>T (p.Lys665Ter)
c.2008A>T (p.Lys670Ter)
c.2005A>T (p.Lys669Ter)
c.1780A>T (p.Lys594Ter)
n.2498A>T
n.2512A>T
2g.43877888A>CCA346671538ABCG8c.1997A>C (p.Lys666Thr)
c.1994A>C (p.Lys665Thr)
c.2009A>C (p.Lys670Thr)
c.2006A>C (p.Lys669Thr)
c.1781A>C (p.Lys594Thr)
n.2499A>C
n.2513A>C
2g.43877888A>GCA346671540ABCG8c.1997A>G (p.Lys666Arg)
c.1994A>G (p.Lys665Arg)
c.2009A>G (p.Lys670Arg)
c.2006A>G (p.Lys669Arg)
c.1781A>G (p.Lys594Arg)
n.2499A>G
n.2513A>G
2g.43877888A>TCA346671541ABCG8c.1997A>T (p.Lys666Ile)
c.1994A>T (p.Lys665Ile)
c.2009A>T (p.Lys670Ile)
c.2006A>T (p.Lys669Ile)
c.1781A>T (p.Lys594Ile)
n.2499A>T
n.2513A>T
2g.43877889A>CCA346671543ABCG8c.1998A>C (p.Lys666Asn)
c.1995A>C (p.Lys665Asn)
c.2010A>C (p.Lys670Asn)
c.2007A>C (p.Lys669Asn)
c.1782A>C (p.Lys594Asn)
n.2500A>C
n.2514A>C
2g.43877889A>GCA425908353ABCG8c.1998A>G (p.Lys666=)
c.1995A>G (p.Lys665=)
c.2010A>G (p.Lys670=)
c.2007A>G (p.Lys669=)
c.1782A>G (p.Lys594=)
n.2500A>G
n.2514A>G
2g.43877889A>TCA346671545ABCG8c.1998A>T (p.Lys666Asn)
c.1995A>T (p.Lys665Asn)
c.2010A>T (p.Lys670Asn)
c.2007A>T (p.Lys669Asn)
c.1782A>T (p.Lys594Asn)
n.2500A>T
n.2514A>T
2g.43877890C>ACA346671547ABCG8c.1999C>A (p.Gln667Lys)
c.1996C>A (p.Gln666Lys)
c.2011C>A (p.Gln671Lys)
c.2008C>A (p.Gln670Lys)
c.1783C>A (p.Gln595Lys)
n.2501C>A
n.2515C>A
2g.43877890C>GCA346671549ABCG8c.1999C>G (p.Gln667Glu)
c.1996C>G (p.Gln666Glu)
c.2011C>G (p.Gln671Glu)
c.2008C>G (p.Gln670Glu)
c.1783C>G (p.Gln595Glu)
n.2501C>G
n.2515C>G
2g.43877890C>TCA346671551ABCG8c.1999C>T (p.Gln667Ter)
c.1996C>T (p.Gln666Ter)
c.2011C>T (p.Gln671Ter)
c.2008C>T (p.Gln670Ter)
c.1783C>T (p.Gln595Ter)
n.2501C>T
n.2515C>T

Number of alleles fetched