Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219210036G>ACA431283658ABCB6,ATG9Ac.2431C>T (p.Leu811=)
c.2293C>T (p.Leu765=)
c.1974C>T
c.419C>T
c.4981C>T
n.698C>T
n.504C>T
n.2744C>T
2g.219210036G>CCA129261ABCB6,ATG9Ac.2431C>G (p.Leu811Val)
c.2293C>G (p.Leu765Val)
c.1974C>G
c.419C>G
c.4981C>G
n.698C>G
n.504C>G
n.2744C>G
 ClinVar dbSNP
2g.219210036G=CA1329111501ABCB6,ATG9Ac.2431C= (p.Leu811=)
c.2293C= (p.Leu765=)
c.1974C=
c.419C=
c.4981C=
n.698C=
n.504C=
n.2744C=
2g.219210036G>TCA350681294ABCB6,ATG9Ac.2431C>A (p.Leu811Met)
c.2293C>A (p.Leu765Met)
c.1974C>A
c.419C>A
c.4981C>A
n.698C>A
n.504C>A
n.2744C>A
2g.219210037A>CCA431283659ABCB6,ATG9Ac.2430T>G (p.Ala810=)
c.2292T>G (p.Ala764=)
c.1973T>G
c.418T>G
c.4980T>G
n.697T>G
n.503T>G
n.2743T>G
2g.219210037A>GCA431283660ABCB6,ATG9Ac.2430T>C (p.Ala810=)
c.2292T>C (p.Ala764=)
c.1973T>C
c.418T>C
c.4980T>C
n.697T>C
n.503T>C
n.2743T>C
2g.219210037A>TCA431283661ABCB6,ATG9Ac.2430T>A (p.Ala810=)
c.2292T>A (p.Ala764=)
c.1973T>A
c.418T>A
c.4980T>A
n.697T>A
n.503T>A
n.2743T>A
 gnomAD v4
2g.219210038G>ACA2118884ABCB6,ATG9Ac.2429C>T (p.Ala810Val)
c.2291C>T (p.Ala764Val)
c.1972C>T
c.417C>T
c.4979C>T
n.696C>T
n.502C>T
n.2742C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.219210038G>CCA350681298ABCB6,ATG9Ac.2429C>G (p.Ala810Gly)
c.2291C>G (p.Ala764Gly)
c.1972C>G
c.417C>G
c.4979C>G
n.696C>G
n.502C>G
n.2742C>G
2g.219210038G=CA1329111502ABCB6,ATG9Ac.2429C= (p.Ala810=)
c.2291C= (p.Ala764=)
c.1972C=
c.417C=
c.4979C=
n.696C=
n.502C=
n.2742C=
2g.219210038G>TCA350681301ABCB6,ATG9Ac.2429C>A (p.Ala810Asp)
c.2291C>A (p.Ala764Asp)
c.1972C>A
c.417C>A
c.4979C>A
n.696C>A
n.502C>A
n.2742C>A
2g.219210039C>ACA350681309ABCB6,ATG9Ac.2428G>T (p.Ala810Ser)
c.2290G>T (p.Ala764Ser)
c.1971G>T
c.416G>T
c.4978G>T
n.695G>T
n.501G>T
n.2741G>T
2g.219210039C=CA1329111503ABCB6,ATG9Ac.2428G= (p.Ala810=)
c.2290G= (p.Ala764=)
c.1971G=
c.416G=
c.4978G=
n.695G=
n.501G=
n.2741G=
2g.219210039C>GCA350681308ABCB6,ATG9Ac.2428G>C (p.Ala810Pro)
c.2290G>C (p.Ala764Pro)
c.1971G>C
c.416G>C
c.4978G>C
n.695G>C
n.501G>C
n.2741G>C
 dbSNP gnomAD v2 gnomAD v4
2g.219210039C>TCA350681307ABCB6,ATG9Ac.2428G>A (p.Ala810Thr)
c.2290G>A (p.Ala764Thr)
c.1971G>A
c.416G>A
c.4978G>A
n.695G>A
n.501G>A
n.2741G>A
2g.219210040C>ACA350681311ABCB6,ATG9Ac.2427G>T (p.Glu809Asp)
c.2289G>T (p.Glu763Asp)
c.1970G>T
c.415G>T
c.4977G>T
n.694G>T
n.500G>T
n.2740G>T
2g.219210040C=CA1329111504ABCB6,ATG9Ac.2427G= (p.Glu809=)
c.2289G= (p.Glu763=)
c.1970G=
c.415G=
c.4977G=
n.694G=
n.500G=
n.2740G=
2g.219210040C>GCA350681314ABCB6,ATG9Ac.2427G>C (p.Glu809Asp)
c.2289G>C (p.Glu763Asp)
c.1970G>C
c.415G>C
c.4977G>C
n.694G>C
n.500G>C
n.2740G>C
2g.219210040C>TCA431283667ABCB6,ATG9Ac.2427G>A (p.Glu809=)
c.2289G>A (p.Glu763=)
c.1970G>A
c.415G>A
c.4977G>A
n.694G>A
n.500G>A
n.2740G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219210041T>ACA350681319ABCB6,ATG9Ac.2426A>T (p.Glu809Val)
c.2288A>T (p.Glu763Val)
c.1969A>T
c.414A>T
c.4976A>T
n.693A>T
n.499A>T
n.2739A>T
2g.219210041T>CCA350681321ABCB6,ATG9Ac.2426A>G (p.Glu809Gly)
c.2288A>G (p.Glu763Gly)
c.1969A>G
c.414A>G
c.4976A>G
n.693A>G
n.499A>G
n.2739A>G
2g.219210041T>GCA350681323ABCB6,ATG9Ac.2426A>C (p.Glu809Ala)
c.2288A>C (p.Glu763Ala)
c.1969A>C
c.414A>C
c.4976A>C
n.693A>C
n.499A>C
n.2739A>C
2g.219210042C>ACA350681326ABCB6,ATG9Ac.2425G>T (p.Glu809Ter)
c.2287G>T (p.Glu763Ter)
c.1968G>T
c.413G>T
c.4975G>T
n.692G>T
n.498G>T
n.2738G>T
2g.219210042C=CA1329111505ABCB6,ATG9Ac.2425G= (p.Glu809=)
c.2287G= (p.Glu763=)
c.1968G=
c.413G=
c.4975G=
n.692G=
n.498G=
n.2738G=
2g.219210042C>GCA2118886ABCB6,ATG9Ac.2425G>C (p.Glu809Gln)
c.2287G>C (p.Glu763Gln)
c.1968G>C
c.413G>C
c.4975G>C
n.692G>C
n.498G>C
n.2738G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210042C>TCA2118885ABCB6,ATG9Ac.2425G>A (p.Glu809Lys)
c.2287G>A (p.Glu763Lys)
c.1968G>A
c.413G>A
c.4975G>A
n.692G>A
n.498G>A
n.2738G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219210043G>ACA2118888ABCB6,ATG9Ac.2424C>T (p.His808=)
c.2286C>T (p.His762=)
c.1967C>T
c.412C>T
c.4974C>T
n.691C>T
n.497C>T
n.2737C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210043G>CCA350681341ABCB6,ATG9Ac.2424C>G (p.His808Gln)
c.2286C>G (p.His762Gln)
c.1967C>G
c.412C>G
c.4974C>G
n.691C>G
n.497C>G
n.2737C>G
 dbSNP
2g.219210043G=CA1329111506ABCB6,ATG9Ac.2424C= (p.His808=)
c.2286C= (p.His762=)
c.1967C=
c.412C=
c.4974C=
n.691C=
n.497C=
n.2737C=
2g.219210043G>TCA2118887ABCB6,ATG9Ac.2424C>A (p.His808Gln)
c.2286C>A (p.His762Gln)
c.1967C>A
c.412C>A
c.4974C>A
n.691C>A
n.497C>A
n.2737C>A
 dbSNP ExAC gnomAD v4
2g.219210044T>ACA350681349ABCB6,ATG9Ac.2423A>T (p.His808Leu)
c.2285A>T (p.His762Leu)
c.1966A>T
c.411A>T
c.4973A>T
n.690A>T
n.496A>T
n.2736A>T
2g.219210044T>CCA350681347ABCB6,ATG9Ac.2423A>G (p.His808Arg)
c.2285A>G (p.His762Arg)
c.1966A>G
c.411A>G
c.4973A>G
n.690A>G
n.496A>G
n.2736A>G
2g.219210044T>GCA350681343ABCB6,ATG9Ac.2423A>C (p.His808Pro)
c.2285A>C (p.His762Pro)
c.1966A>C
c.411A>C
c.4973A>C
n.690A>C
n.496A>C
n.2736A>C
2g.219210045G>ACA350681353ABCB6,ATG9Ac.2422C>T (p.His808Tyr)
c.2284C>T (p.His762Tyr)
c.1965C>T
c.410C>T
c.4972C>T
n.689C>T
n.495C>T
n.2735C>T
 dbSNP gnomAD v3 gnomAD v4
2g.219210045G>CCA350681355ABCB6,ATG9Ac.2422C>G (p.His808Asp)
c.2284C>G (p.His762Asp)
c.1965C>G
c.410C>G
c.4972C>G
n.689C>G
n.495C>G
n.2735C>G
 gnomAD v3 gnomAD v4
2g.219210045G=CA1329111507ABCB6,ATG9Ac.2422C= (p.His808=)
c.2284C= (p.His762=)
c.1965C=
c.410C=
c.4972C=
n.689C=
n.495C=
n.2735C=
2g.219210045G>TCA350681358ABCB6,ATG9Ac.2422C>A (p.His808Asn)
c.2284C>A (p.His762Asn)
c.1965C>A
c.410C>A
c.4972C>A
n.689C>A
n.495C>A
n.2735C>A
2g.219210046T>ACA431283669ABCB6,ATG9Ac.2421A>T (p.Arg807=)
c.2283A>T (p.Arg761=)
c.1964A>T
c.409A>T
c.4971A>T
n.688A>T
n.494A>T
n.2734A>T
2g.219210046T>CCA431283670ABCB6,ATG9Ac.2421A>G (p.Arg807=)
c.2283A>G (p.Arg761=)
c.1964A>G
c.409A>G
c.4971A>G
n.688A>G
n.494A>G
n.2734A>G
 dbSNP gnomAD v4
2g.219210046T>GCA431283671ABCB6,ATG9Ac.2421A>C (p.Arg807=)
c.2283A>C (p.Arg761=)
c.1964A>C
c.409A>C
c.4971A>C
n.688A>C
n.494A>C
n.2734A>C
2g.219210046T=CA1329111508ABCB6,ATG9Ac.2421A= (p.Arg807=)
c.2283A= (p.Arg761=)
c.1964A=
c.409A=
c.4971A=
n.688A=
n.494A=
n.2734A=
2g.219210047C>ACA350681360ABCB6,ATG9Ac.2421-1G>T (n.2421-1G>T)
c.2283-1G>T (n.2283-1G>T)
c.1964-1G>T
c.409-1G>T
c.4971-1G>T
n.688-1G>T
n.494-1G>T
n.2734-1G>T
2g.219210047C>GCA350681362ABCB6,ATG9Ac.2421-1G>C (n.2421-1G>C)
c.2283-1G>C (n.2283-1G>C)
c.1964-1G>C
c.409-1G>C
c.4971-1G>C
n.688-1G>C
n.494-1G>C
n.2734-1G>C
2g.219210047C>TCA350681364ABCB6,ATG9Ac.2421-1G>A (n.2421-1G>A)
c.2283-1G>A (n.2283-1G>A)
c.1964-1G>A
c.409-1G>A
c.4971-1G>A
n.688-1G>A
n.494-1G>A
n.2734-1G>A
2g.219210047_219210049delinsCTGCA1329111509ABCB6,ATG9Ac.2421-3_2421-1delinsCAG (n.2421-3_2421-1delinsCAG)
c.2283-3_2283-1delinsCAG (n.2283-3_2283-1delinsCAG)
c.1964-3_1964-1delinsCAG
c.409-3_409-1delinsCAG
c.4971-3_4971-1delinsCAG
n.688-3_688-1delinsCAG
n.494-3_494-1delinsCAG
n.2734-3_2734-1delinsCAG
2g.219210048T>ACA350681366ABCB6,ATG9Ac.2421-2A>T (n.2421-2A>T)
c.2283-2A>T (n.2283-2A>T)
c.1964-2A>T
c.409-2A>T
c.4971-2A>T
n.688-2A>T
n.494-2A>T
n.2734-2A>T
2g.219210048T>CCA350681367ABCB6,ATG9Ac.2421-2A>G (n.2421-2A>G)
c.2283-2A>G (n.2283-2A>G)
c.1964-2A>G
c.409-2A>G
c.4971-2A>G
n.688-2A>G
n.494-2A>G
n.2734-2A>G
 dbSNP gnomAD v2 gnomAD v4
2g.219210048T>GCA2118890ABCB6,ATG9Ac.2421-2A>C (n.2421-2A>C)
c.2283-2A>C (n.2283-2A>C)
c.1964-2A>C
c.409-2A>C
c.4971-2A>C
n.688-2A>C
n.494-2A>C
n.2734-2A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219210048T=CA1329111510ABCB6,ATG9Ac.2421-2A= (n.2421-2A=)
c.2283-2A= (n.2283-2A=)
c.1964-2A=
c.409-2A=
c.4971-2A=
n.688-2A=
n.494-2A=
n.2734-2A=
2g.219210048_219210049delCA2118889ABCB6,ATG9Ac.2421-3_2421-2del (n.2421-3_2421-2del)
c.2283-3_2283-2del (n.2283-3_2283-2del)
c.1964-3_1964-2del
c.409-3_409-2del
c.4971-3_4971-2del
n.688-3_688-2del
n.494-3_494-2del
n.2734-3_2734-2del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched