Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104825656T>CCA589839687ABCA1c.2542+27A>G (n.2542+27A>G)
n.742A>G
c.2362+27A>G (n.2362+27A>G)
c.2617+27A>G (n.2617+27A>G)
c.2179+27A>G (n.2179+27A>G)
c.2479+27A>G (n.2479+27A>G)
n.2930+27A>G
dbSNP gnomAD v2 gnomAD v4
9g.104825656T=CA1869914900ABCA1c.2542+27A= (n.2542+27A=)
n.742A=
c.2362+27A= (n.2362+27A=)
c.2617+27A= (n.2617+27A=)
c.2179+27A= (n.2179+27A=)
c.2479+27A= (n.2479+27A=)
n.2930+27A=
9g.104825657C=CA1869914902ABCA1c.2542+26G= (n.2542+26G=)
n.741G=
c.2362+26G= (n.2362+26G=)
c.2617+26G= (n.2617+26G=)
c.2179+26G= (n.2179+26G=)
c.2479+26G= (n.2479+26G=)
n.2930+26G=
9g.104825657C>TCA589839689ABCA1c.2542+26G>A (n.2542+26G>A)
n.741G>A
c.2362+26G>A (n.2362+26G>A)
c.2617+26G>A (n.2617+26G>A)
c.2179+26G>A (n.2179+26G>A)
c.2479+26G>A (n.2479+26G>A)
n.2930+26G>A
dbSNP gnomAD v2 gnomAD v4
9g.104825658C=CA1869914905ABCA1c.2542+25G= (n.2542+25G=)
n.740G=
c.2362+25G= (n.2362+25G=)
c.2617+25G= (n.2617+25G=)
c.2179+25G= (n.2179+25G=)
c.2479+25G= (n.2479+25G=)
n.2930+25G=
9g.104825658C>TCA589839691ABCA1c.2542+25G>A (n.2542+25G>A)
n.740G>A
c.2362+25G>A (n.2362+25G>A)
c.2617+25G>A (n.2617+25G>A)
c.2179+25G>A (n.2179+25G>A)
c.2479+25G>A (n.2479+25G>A)
n.2930+25G>A
dbSNP gnomAD v2 gnomAD v4
9g.104825661A>CCA2691055766ABCA1c.2542+22T>G (n.2542+22T>G)
n.737T>G
c.2362+22T>G (n.2362+22T>G)
c.2617+22T>G (n.2617+22T>G)
c.2179+22T>G (n.2179+22T>G)
c.2479+22T>G (n.2479+22T>G)
n.2930+22T>G
gnomAD v4
9g.104825662C=CA1869914907ABCA1c.2542+21G= (n.2542+21G=)
n.736G=
c.2362+21G= (n.2362+21G=)
c.2617+21G= (n.2617+21G=)
c.2179+21G= (n.2179+21G=)
c.2479+21G= (n.2479+21G=)
n.2930+21G=
9g.104825662C>TCA858046551ABCA1c.2542+21G>A (n.2542+21G>A)
n.736G>A
c.2362+21G>A (n.2362+21G>A)
c.2617+21G>A (n.2617+21G>A)
c.2179+21G>A (n.2179+21G>A)
c.2479+21G>A (n.2479+21G>A)
n.2930+21G>A
dbSNP gnomAD v3 gnomAD v4
9g.104825663A=CA1869914911ABCA1c.2542+20T= (n.2542+20T=)
n.735T=
c.2362+20T= (n.2362+20T=)
c.2617+20T= (n.2617+20T=)
c.2179+20T= (n.2179+20T=)
c.2479+20T= (n.2479+20T=)
n.2930+20T=
9g.104825663A>CCA589839693ABCA1c.2542+20T>G (n.2542+20T>G)
n.735T>G
c.2362+20T>G (n.2362+20T>G)
c.2617+20T>G (n.2617+20T>G)
c.2179+20T>G (n.2179+20T>G)
c.2479+20T>G (n.2479+20T>G)
n.2930+20T>G
dbSNP gnomAD v2 gnomAD v4
9g.104825664G>ACA1869914915ABCA1c.2542+19C>T (n.2542+19C>T)
n.734C>T
c.2362+19C>T (n.2362+19C>T)
c.2617+19C>T (n.2617+19C>T)
c.2179+19C>T (n.2179+19C>T)
c.2479+19C>T (n.2479+19C>T)
n.2930+19C>T
dbSNP
9g.104825664G=CA1869914914ABCA1c.2542+19C= (n.2542+19C=)
n.734C=
c.2362+19C= (n.2362+19C=)
c.2617+19C= (n.2617+19C=)
c.2179+19C= (n.2179+19C=)
c.2479+19C= (n.2479+19C=)
n.2930+19C=
9g.104825664G>TCA5168707ABCA1c.2542+19C>A (n.2542+19C>A)
n.734C>A
c.2362+19C>A (n.2362+19C>A)
c.2617+19C>A (n.2617+19C>A)
c.2179+19C>A (n.2179+19C>A)
c.2479+19C>A (n.2479+19C>A)
n.2930+19C>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825665A=CA1869914916ABCA1c.2542+18T= (n.2542+18T=)
n.733T=
c.2362+18T= (n.2362+18T=)
c.2617+18T= (n.2617+18T=)
c.2179+18T= (n.2179+18T=)
c.2479+18T= (n.2479+18T=)
n.2930+18T=
9g.104825665A>TCA1127660614ABCA1c.2542+18T>A (n.2542+18T>A)
n.733T>A
c.2362+18T>A (n.2362+18T>A)
c.2617+18T>A (n.2617+18T>A)
c.2179+18T>A (n.2179+18T>A)
c.2479+18T>A (n.2479+18T>A)
n.2930+18T>A
dbSNP gnomAD v3 gnomAD v4
9g.104825666T>CCA2691055767ABCA1c.2542+17A>G (n.2542+17A>G)
n.732A>G
c.2362+17A>G (n.2362+17A>G)
c.2617+17A>G (n.2617+17A>G)
c.2179+17A>G (n.2179+17A>G)
c.2479+17A>G (n.2479+17A>G)
n.2930+17A>G
gnomAD v4
9g.104825667G>ACA197392804ABCA1c.2542+16C>T (n.2542+16C>T)
n.731C>T
c.2362+16C>T (n.2362+16C>T)
c.2617+16C>T (n.2617+16C>T)
c.2179+16C>T (n.2179+16C>T)
c.2479+16C>T (n.2479+16C>T)
n.2930+16C>T
dbSNP gnomAD v3 gnomAD v4
9g.104825667G=CA1869914918ABCA1c.2542+16C= (n.2542+16C=)
n.731C=
c.2362+16C= (n.2362+16C=)
c.2617+16C= (n.2617+16C=)
c.2179+16C= (n.2179+16C=)
c.2479+16C= (n.2479+16C=)
n.2930+16C=
9g.104825668C>TCA2691055768ABCA1c.2542+15G>A (n.2542+15G>A)
n.730G>A
c.2362+15G>A (n.2362+15G>A)
c.2617+15G>A (n.2617+15G>A)
c.2179+15G>A (n.2179+15G>A)
c.2479+15G>A (n.2479+15G>A)
n.2930+15G>A
gnomAD v4
9g.104825669C=CA1869914920ABCA1c.2542+14G= (n.2542+14G=)
n.729G=
c.2362+14G= (n.2362+14G=)
c.2617+14G= (n.2617+14G=)
c.2179+14G= (n.2179+14G=)
c.2479+14G= (n.2479+14G=)
n.2930+14G=
9g.104825669C>TCA589839696ABCA1c.2542+14G>A (n.2542+14G>A)
n.729G>A
c.2362+14G>A (n.2362+14G>A)
c.2617+14G>A (n.2617+14G>A)
c.2179+14G>A (n.2179+14G>A)
c.2479+14G>A (n.2479+14G>A)
n.2930+14G>A
dbSNP gnomAD v2 gnomAD v4
9g.104825670C=CA1869914922ABCA1c.2542+13G= (n.2542+13G=)
n.728G=
c.2362+13G= (n.2362+13G=)
c.2617+13G= (n.2617+13G=)
c.2179+13G= (n.2179+13G=)
c.2479+13G= (n.2479+13G=)
n.2930+13G=
9g.104825670C>TCA197392808ABCA1c.2542+13G>A (n.2542+13G>A)
n.728G>A
c.2362+13G>A (n.2362+13G>A)
c.2617+13G>A (n.2617+13G>A)
c.2179+13G>A (n.2179+13G>A)
c.2479+13G>A (n.2479+13G>A)
n.2930+13G>A
dbSNP gnomAD v4
9g.104825677G>CCA589839697ABCA1c.2542+6C>G (n.2542+6C>G)
n.721C>G
c.2362+6C>G (n.2362+6C>G)
c.2617+6C>G (n.2617+6C>G)
c.2179+6C>G (n.2179+6C>G)
c.2479+6C>G (n.2479+6C>G)
n.2930+6C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825677G=CA1869914924ABCA1c.2542+6C= (n.2542+6C=)
n.721C=
c.2362+6C= (n.2362+6C=)
c.2617+6C= (n.2617+6C=)
c.2179+6C= (n.2179+6C=)
c.2479+6C= (n.2479+6C=)
n.2930+6C=
9g.104825678T>CCA5168708ABCA1c.2542+5A>G (n.2542+5A>G)
n.720A>G
c.2362+5A>G (n.2362+5A>G)
c.2617+5A>G (n.2617+5A>G)
c.2179+5A>G (n.2179+5A>G)
c.2479+5A>G (n.2479+5A>G)
n.2930+5A>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825678T=CA1869914926ABCA1c.2542+5A= (n.2542+5A=)
n.720A=
c.2362+5A= (n.2362+5A=)
c.2617+5A= (n.2617+5A=)
c.2179+5A= (n.2179+5A=)
c.2479+5A= (n.2479+5A=)
n.2930+5A=
9g.104825679G>ACA2691055769ABCA1c.2542+4C>T (n.2542+4C>T)
n.719C>T
c.2362+4C>T (n.2362+4C>T)
c.2617+4C>T (n.2617+4C>T)
c.2179+4C>T (n.2179+4C>T)
c.2479+4C>T (n.2479+4C>T)
n.2930+4C>T
gnomAD v4
9g.104825681A>CCA374320842ABCA1c.2542+2T>G (n.2542+2T>G)
n.717T>G
c.2362+2T>G (n.2362+2T>G)
c.2617+2T>G (n.2617+2T>G)
c.2179+2T>G (n.2179+2T>G)
c.2479+2T>G (n.2479+2T>G)
n.2930+2T>G
9g.104825681A>GCA374320844ABCA1c.2542+2T>C (n.2542+2T>C)
n.717T>C
c.2362+2T>C (n.2362+2T>C)
c.2617+2T>C (n.2617+2T>C)
c.2179+2T>C (n.2179+2T>C)
c.2479+2T>C (n.2479+2T>C)
n.2930+2T>C
9g.104825681A>TCA374320845ABCA1c.2542+2T>A (n.2542+2T>A)
n.717T>A
c.2362+2T>A (n.2362+2T>A)
c.2617+2T>A (n.2617+2T>A)
c.2179+2T>A (n.2179+2T>A)
c.2479+2T>A (n.2479+2T>A)
n.2930+2T>A
9g.104825682C>ACA374320848ABCA1c.2542+1G>T (n.2542+1G>T)
n.716G>T
c.2362+1G>T (n.2362+1G>T)
c.2617+1G>T (n.2617+1G>T)
c.2179+1G>T (n.2179+1G>T)
c.2479+1G>T (n.2479+1G>T)
n.2930+1G>T
9g.104825682C>GCA374320849ABCA1c.2542+1G>C (n.2542+1G>C)
n.716G>C
c.2362+1G>C (n.2362+1G>C)
c.2617+1G>C (n.2617+1G>C)
c.2179+1G>C (n.2179+1G>C)
c.2479+1G>C (n.2479+1G>C)
n.2930+1G>C
9g.104825682C>TCA374320851ABCA1c.2542+1G>A (n.2542+1G>A)
n.716G>A
c.2362+1G>A (n.2362+1G>A)
c.2617+1G>A (n.2617+1G>A)
c.2179+1G>A (n.2179+1G>A)
c.2479+1G>A (n.2479+1G>A)
n.2930+1G>A
9g.104825683C>ACA374320853ABCA1c.2542G>T (p.Gly848Cys)
n.715G>T
c.2362G>T (p.Gly788Cys)
c.2617G>T (p.Gly873Cys)
c.2179G>T (p.Gly727Cys)
c.2479G>T (p.Gly827Cys)
n.2930G>T
COSMIC
9g.104825683C>GCA374320854ABCA1c.2542G>C (p.Gly848Arg)
n.715G>C
c.2362G>C (p.Gly788Arg)
c.2617G>C (p.Gly873Arg)
c.2179G>C (p.Gly727Arg)
c.2479G>C (p.Gly827Arg)
n.2930G>C
gnomAD v4
9g.104825683C>TCA374320855ABCA1c.2542G>A (p.Gly848Ser)
n.715G>A
c.2362G>A (p.Gly788Ser)
c.2617G>A (p.Gly873Ser)
c.2179G>A (p.Gly727Ser)
c.2479G>A (p.Gly827Ser)
n.2930G>A
9g.104825684T>ACA466506857ABCA1c.2541A>T (p.Pro847=)
n.714A>T
c.2361A>T (p.Pro787=)
c.2616A>T (p.Pro872=)
c.2178A>T (p.Pro726=)
c.2478A>T (p.Pro826=)
n.2929A>T
9g.104825684T>CCA466506859ABCA1c.2541A>G (p.Pro847=)
n.714A>G
c.2361A>G (p.Pro787=)
c.2616A>G (p.Pro872=)
c.2178A>G (p.Pro726=)
c.2478A>G (p.Pro826=)
n.2929A>G
9g.104825684T>GCA466506858ABCA1c.2541A>C (p.Pro847=)
n.714A>C
c.2361A>C (p.Pro787=)
c.2616A>C (p.Pro872=)
c.2178A>C (p.Pro726=)
c.2478A>C (p.Pro826=)
n.2929A>C
dbSNP
9g.104825684T=CA1869914929ABCA1c.2541A= (p.Pro847=)
n.714A=
c.2361A= (p.Pro787=)
c.2616A= (p.Pro872=)
c.2178A= (p.Pro726=)
c.2478A= (p.Pro826=)
n.2929A=
9g.104825685G>ACA374320860ABCA1c.2540C>T (p.Pro847Leu)
n.713C>T
c.2360C>T (p.Pro787Leu)
c.2615C>T (p.Pro872Leu)
c.2177C>T (p.Pro726Leu)
c.2477C>T (p.Pro826Leu)
n.2928C>T
gnomAD v4
9g.104825685G>CCA374320859ABCA1c.2540C>G (p.Pro847Arg)
n.713C>G
c.2360C>G (p.Pro787Arg)
c.2615C>G (p.Pro872Arg)
c.2177C>G (p.Pro726Arg)
c.2477C>G (p.Pro826Arg)
n.2928C>G
9g.104825685G>TCA374320857ABCA1c.2540C>A (p.Pro847Gln)
n.713C>A
c.2360C>A (p.Pro787Gln)
c.2615C>A (p.Pro872Gln)
c.2177C>A (p.Pro726Gln)
c.2477C>A (p.Pro826Gln)
n.2928C>A
9g.104825686G>ACA374320862ABCA1c.2539C>T (p.Pro847Ser)
n.712C>T
c.2359C>T (p.Pro787Ser)
c.2614C>T (p.Pro872Ser)
c.2176C>T (p.Pro726Ser)
c.2476C>T (p.Pro826Ser)
n.2927C>T
gnomAD v4
9g.104825686G>CCA374320865ABCA1c.2539C>G (p.Pro847Ala)
n.712C>G
c.2359C>G (p.Pro787Ala)
c.2614C>G (p.Pro872Ala)
c.2176C>G (p.Pro726Ala)
c.2476C>G (p.Pro826Ala)
n.2927C>G
9g.104825686G>TCA374320864ABCA1c.2539C>A (p.Pro847Thr)
n.712C>A
c.2359C>A (p.Pro787Thr)
c.2614C>A (p.Pro872Thr)
c.2176C>A (p.Pro726Thr)
c.2476C>A (p.Pro826Thr)
n.2927C>A
9g.104825687A=CA1869914931ABCA1c.2538T= (p.Phe846=)
n.711T=
c.2358T= (p.Phe786=)
c.2613T= (p.Phe871=)
c.2175T= (p.Phe725=)
c.2475T= (p.Phe825=)
n.2926T=
9g.104825687A>CCA374320868ABCA1c.2538T>G (p.Phe846Leu)
n.711T>G
c.2358T>G (p.Phe786Leu)
c.2613T>G (p.Phe871Leu)
c.2175T>G (p.Phe725Leu)
c.2475T>G (p.Phe825Leu)
n.2926T>G
9g.104825687A>GCA466506860ABCA1c.2538T>C (p.Phe846=)
n.711T>C
c.2358T>C (p.Phe786=)
c.2613T>C (p.Phe871=)
c.2175T>C (p.Phe725=)
c.2475T>C (p.Phe825=)
n.2926T>C
dbSNP gnomAD v3 gnomAD v4
9g.104825687A>TCA374320869ABCA1c.2538T>A (p.Phe846Leu)
n.711T>A
c.2358T>A (p.Phe786Leu)
c.2613T>A (p.Phe871Leu)
c.2175T>A (p.Phe725Leu)
c.2475T>A (p.Phe825Leu)
n.2926T>A
9g.104825688A>CCA374320871ABCA1c.2537T>G (p.Phe846Cys)
n.710T>G
c.2357T>G (p.Phe786Cys)
c.2612T>G (p.Phe871Cys)
c.2174T>G (p.Phe725Cys)
c.2474T>G (p.Phe825Cys)
n.2925T>G
9g.104825688A>GCA374320874ABCA1c.2537T>C (p.Phe846Ser)
n.710T>C
c.2357T>C (p.Phe786Ser)
c.2612T>C (p.Phe871Ser)
c.2174T>C (p.Phe725Ser)
c.2474T>C (p.Phe825Ser)
n.2925T>C
9g.104825688A>TCA374320873ABCA1c.2537T>A (p.Phe846Tyr)
n.710T>A
c.2357T>A (p.Phe786Tyr)
c.2612T>A (p.Phe871Tyr)
c.2174T>A (p.Phe725Tyr)
c.2474T>A (p.Phe825Tyr)
n.2925T>A
9g.104825689A>CCA374320875ABCA1c.2536T>G (p.Phe846Val)
n.709T>G
c.2356T>G (p.Phe786Val)
c.2611T>G (p.Phe871Val)
c.2173T>G (p.Phe725Val)
c.2473T>G (p.Phe825Val)
n.2924T>G
9g.104825689A>GCA374320878ABCA1c.2536T>C (p.Phe846Leu)
n.709T>C
c.2356T>C (p.Phe786Leu)
c.2611T>C (p.Phe871Leu)
c.2173T>C (p.Phe725Leu)
c.2473T>C (p.Phe825Leu)
n.2924T>C
9g.104825689A>TCA374320877ABCA1c.2536T>A (p.Phe846Ile)
n.709T>A
c.2356T>A (p.Phe786Ile)
c.2611T>A (p.Phe871Ile)
c.2173T>A (p.Phe725Ile)
c.2473T>A (p.Phe825Ile)
n.2924T>A
9g.104825690G>ACA466506861ABCA1c.2535C>T (p.Val845=)
n.708C>T
c.2355C>T (p.Val785=)
c.2610C>T (p.Val870=)
c.2172C>T (p.Val724=)
c.2472C>T (p.Val824=)
n.2923C>T
9g.104825690G>CCA466506862ABCA1c.2535C>G (p.Val845=)
n.708C>G
c.2355C>G (p.Val785=)
c.2610C>G (p.Val870=)
c.2172C>G (p.Val724=)
c.2472C>G (p.Val824=)
n.2923C>G
9g.104825690G>TCA466506863ABCA1c.2535C>A (p.Val845=)
n.708C>A
c.2355C>A (p.Val785=)
c.2610C>A (p.Val870=)
c.2172C>A (p.Val724=)
c.2472C>A (p.Val824=)
n.2923C>A
9g.104825691A=CA1869914934ABCA1c.2534T= (p.Val845=)
n.707T=
c.2354T= (p.Val785=)
c.2609T= (p.Val870=)
c.2171T= (p.Val724=)
c.2471T= (p.Val824=)
n.2922T=
9g.104825691A>CCA374320880ABCA1c.2534T>G (p.Val845Gly)
n.707T>G
c.2354T>G (p.Val785Gly)
c.2609T>G (p.Val870Gly)
c.2171T>G (p.Val724Gly)
c.2471T>G (p.Val824Gly)
n.2922T>G
9g.104825691A>GCA5168709ABCA1c.2534T>C (p.Val845Ala)
n.707T>C
c.2354T>C (p.Val785Ala)
c.2609T>C (p.Val870Ala)
c.2171T>C (p.Val724Ala)
c.2471T>C (p.Val824Ala)
n.2922T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825691A>TCA374320882ABCA1c.2534T>A (p.Val845Asp)
n.707T>A
c.2354T>A (p.Val785Asp)
c.2609T>A (p.Val870Asp)
c.2171T>A (p.Val724Asp)
c.2471T>A (p.Val824Asp)
n.2922T>A
9g.104825692C>ACA374320885ABCA1c.2533G>T (p.Val845Phe)
n.706G>T
c.2353G>T (p.Val785Phe)
c.2608G>T (p.Val870Phe)
c.2170G>T (p.Val724Phe)
c.2470G>T (p.Val824Phe)
n.2921G>T
9g.104825692C>GCA374320888ABCA1c.2533G>C (p.Val845Leu)
n.706G>C
c.2353G>C (p.Val785Leu)
c.2608G>C (p.Val870Leu)
c.2170G>C (p.Val724Leu)
c.2470G>C (p.Val824Leu)
n.2921G>C
9g.104825692C>TCA374320886ABCA1c.2533G>A (p.Val845Ile)
n.706G>A
c.2353G>A (p.Val785Ile)
c.2608G>A (p.Val870Ile)
c.2170G>A (p.Val724Ile)
c.2470G>A (p.Val824Ile)
n.2921G>A
gnomAD v4
9g.104825693A=CA1869914939ABCA1c.2532T= (p.Ala844=)
n.705T=
c.2352T= (p.Ala784=)
c.2607T= (p.Ala869=)
c.2169T= (p.Ala723=)
c.2469T= (p.Ala823=)
n.2920T=
9g.104825693A>CCA5168710ABCA1c.2532T>G (p.Ala844=)
n.705T>G
c.2352T>G (p.Ala784=)
c.2607T>G (p.Ala869=)
c.2169T>G (p.Ala723=)
c.2469T>G (p.Ala823=)
n.2920T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825693A>GCA466506865ABCA1c.2532T>C (p.Ala844=)
n.705T>C
c.2352T>C (p.Ala784=)
c.2607T>C (p.Ala869=)
c.2169T>C (p.Ala723=)
c.2469T>C (p.Ala823=)
n.2920T>C
dbSNP gnomAD v2
9g.104825693A>TCA466506864ABCA1c.2532T>A (p.Ala844=)
n.705T>A
c.2352T>A (p.Ala784=)
c.2607T>A (p.Ala869=)
c.2169T>A (p.Ala723=)
c.2469T>A (p.Ala823=)
n.2920T>A
9g.104825694G>ACA374320891ABCA1c.2531C>T (p.Ala844Val)
n.704C>T
c.2351C>T (p.Ala784Val)
c.2606C>T (p.Ala869Val)
c.2168C>T (p.Ala723Val)
c.2468C>T (p.Ala823Val)
n.2919C>T
9g.104825694G>CCA374320893ABCA1c.2531C>G (p.Ala844Gly)
n.704C>G
c.2351C>G (p.Ala784Gly)
c.2606C>G (p.Ala869Gly)
c.2168C>G (p.Ala723Gly)
c.2468C>G (p.Ala823Gly)
n.2919C>G
dbSNP gnomAD v2 gnomAD v4
9g.104825694G=CA1869914942ABCA1c.2531C= (p.Ala844=)
n.704C=
c.2351C= (p.Ala784=)
c.2606C= (p.Ala869=)
c.2168C= (p.Ala723=)
c.2468C= (p.Ala823=)
n.2919C=
9g.104825694G>TCA374320894ABCA1c.2531C>A (p.Ala844Asp)
n.704C>A
c.2351C>A (p.Ala784Asp)
c.2606C>A (p.Ala869Asp)
c.2168C>A (p.Ala723Asp)
c.2468C>A (p.Ala823Asp)
n.2919C>A
9g.104825695C>ACA5168711ABCA1c.2530G>T (p.Ala844Ser)
n.703G>T
c.2350G>T (p.Ala784Ser)
c.2605G>T (p.Ala869Ser)
c.2167G>T (p.Ala723Ser)
c.2467G>T (p.Ala823Ser)
n.2918G>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825695C=CA1869914945ABCA1c.2530G= (p.Ala844=)
n.703G=
c.2350G= (p.Ala784=)
c.2605G= (p.Ala869=)
c.2167G= (p.Ala723=)
c.2467G= (p.Ala823=)
n.2918G=
9g.104825695C>GCA374320896ABCA1c.2530G>C (p.Ala844Pro)
n.703G>C
c.2350G>C (p.Ala784Pro)
c.2605G>C (p.Ala869Pro)
c.2167G>C (p.Ala723Pro)
c.2467G>C (p.Ala823Pro)
n.2918G>C
9g.104825695C>TCA374320897ABCA1c.2530G>A (p.Ala844Thr)
n.703G>A
c.2350G>A (p.Ala784Thr)
c.2605G>A (p.Ala869Thr)
c.2167G>A (p.Ala723Thr)
c.2467G>A (p.Ala823Thr)
n.2918G>A
9g.104825696C>ACA374320899ABCA1c.2529G>T (p.Glu843Asp)
n.702G>T
c.2349G>T (p.Glu783Asp)
c.2604G>T (p.Glu868Asp)
c.2166G>T (p.Glu722Asp)
c.2466G>T (p.Glu822Asp)
n.2917G>T
9g.104825696C=CA1869914948ABCA1c.2529G= (p.Glu843=)
n.702G=
c.2349G= (p.Glu783=)
c.2604G= (p.Glu868=)
c.2166G= (p.Glu722=)
c.2466G= (p.Glu822=)
n.2917G=
9g.104825696C>GCA374320901ABCA1c.2529G>C (p.Glu843Asp)
n.702G>C
c.2349G>C (p.Glu783Asp)
c.2604G>C (p.Glu868Asp)
c.2166G>C (p.Glu722Asp)
c.2466G>C (p.Glu822Asp)
n.2917G>C
9g.104825696C>TCA466506866ABCA1c.2529G>A (p.Glu843=)
n.702G>A
c.2349G>A (p.Glu783=)
c.2604G>A (p.Glu868=)
c.2166G>A (p.Glu722=)
c.2466G>A (p.Glu822=)
n.2917G>A
dbSNP
9g.104825697T>ACA374320907ABCA1c.2528A>T (p.Glu843Val)
n.701A>T
c.2348A>T (p.Glu783Val)
c.2603A>T (p.Glu868Val)
c.2165A>T (p.Glu722Val)
c.2465A>T (p.Glu822Val)
n.2916A>T
9g.104825697T>CCA374320905ABCA1c.2528A>G (p.Glu843Gly)
n.701A>G
c.2348A>G (p.Glu783Gly)
c.2603A>G (p.Glu868Gly)
c.2165A>G (p.Glu722Gly)
c.2465A>G (p.Glu822Gly)
n.2916A>G
9g.104825697T>GCA374320903ABCA1c.2528A>C (p.Glu843Ala)
n.701A>C
c.2348A>C (p.Glu783Ala)
c.2603A>C (p.Glu868Ala)
c.2165A>C (p.Glu722Ala)
c.2465A>C (p.Glu822Ala)
n.2916A>C
9g.104825698C>ACA374320908ABCA1c.2527G>T (p.Glu843Ter)
n.700G>T
c.2347G>T (p.Glu783Ter)
c.2602G>T (p.Glu868Ter)
c.2164G>T (p.Glu722Ter)
c.2464G>T (p.Glu822Ter)
n.2915G>T
9g.104825698C>GCA374320909ABCA1c.2527G>C (p.Glu843Gln)
n.700G>C
c.2347G>C (p.Glu783Gln)
c.2602G>C (p.Glu868Gln)
c.2164G>C (p.Glu722Gln)
c.2464G>C (p.Glu822Gln)
n.2915G>C
9g.104825698C>TCA374320911ABCA1c.2527G>A (p.Glu843Lys)
n.700G>A
c.2347G>A (p.Glu783Lys)
c.2602G>A (p.Glu868Lys)
c.2164G>A (p.Glu722Lys)
c.2464G>A (p.Glu822Lys)
n.2915G>A
9g.104825699A>CCA374320913ABCA1c.2526T>G (p.Ile842Met)
n.699T>G
c.2346T>G (p.Ile782Met)
c.2601T>G (p.Ile867Met)
c.2163T>G (p.Ile721Met)
c.2463T>G (p.Ile821Met)
n.2914T>G
9g.104825699A>GCA466506867ABCA1c.2526T>C (p.Ile842=)
n.699T>C
c.2346T>C (p.Ile782=)
c.2601T>C (p.Ile867=)
c.2163T>C (p.Ile721=)
c.2463T>C (p.Ile821=)
n.2914T>C
9g.104825699A>TCA466506868ABCA1c.2526T>A (p.Ile842=)
n.699T>A
c.2346T>A (p.Ile782=)
c.2601T>A (p.Ile867=)
c.2163T>A (p.Ile721=)
c.2463T>A (p.Ile821=)
n.2914T>A
9g.104825700A>CCA374320915ABCA1c.2525T>G (p.Ile842Ser)
n.698T>G
c.2345T>G (p.Ile782Ser)
c.2600T>G (p.Ile867Ser)
c.2162T>G (p.Ile721Ser)
c.2462T>G (p.Ile821Ser)
n.2913T>G
9g.104825700A>GCA374320916ABCA1c.2525T>C (p.Ile842Thr)
n.698T>C
c.2345T>C (p.Ile782Thr)
c.2600T>C (p.Ile867Thr)
c.2162T>C (p.Ile721Thr)
c.2462T>C (p.Ile821Thr)
n.2913T>C
gnomAD v4
9g.104825700A>TCA374320918ABCA1c.2525T>A (p.Ile842Asn)
n.698T>A
c.2345T>A (p.Ile782Asn)
c.2600T>A (p.Ile867Asn)
c.2162T>A (p.Ile721Asn)
c.2462T>A (p.Ile821Asn)
n.2913T>A
9g.104825701T>ACA374320920ABCA1c.2524A>T (p.Ile842Phe)
n.697A>T
c.2344A>T (p.Ile782Phe)
c.2599A>T (p.Ile867Phe)
c.2161A>T (p.Ile721Phe)
c.2461A>T (p.Ile821Phe)
n.2912A>T
9g.104825701T>CCA374320921ABCA1c.2524A>G (p.Ile842Val)
n.697A>G
c.2344A>G (p.Ile782Val)
c.2599A>G (p.Ile867Val)
c.2161A>G (p.Ile721Val)
c.2461A>G (p.Ile821Val)
n.2912A>G
dbSNP gnomAD v2 gnomAD v4
9g.104825701T>GCA374320923ABCA1c.2524A>C (p.Ile842Leu)
n.697A>C
c.2344A>C (p.Ile782Leu)
c.2599A>C (p.Ile867Leu)
c.2161A>C (p.Ile721Leu)
c.2461A>C (p.Ile821Leu)
n.2912A>C
dbSNP gnomAD v2 gnomAD v4 COSMIC
9g.104825701T=CA1869914952ABCA1c.2524A= (p.Ile842=)
n.697A=
c.2344A= (p.Ile782=)
c.2599A= (p.Ile867=)
c.2161A= (p.Ile721=)
c.2461A= (p.Ile821=)
n.2912A=
9g.104825702G>ACA197392831ABCA1c.2523C>T (p.Tyr841=)
n.696C>T
c.2343C>T (p.Tyr781=)
c.2598C>T (p.Tyr866=)
c.2160C>T (p.Tyr720=)
c.2460C>T (p.Tyr820=)
n.2911C>T
dbSNP gnomAD v3 gnomAD v4
9g.104825702G>CCA374320928ABCA1c.2523C>G (p.Tyr841Ter)
n.696C>G
c.2343C>G (p.Tyr781Ter)
c.2598C>G (p.Tyr866Ter)
c.2160C>G (p.Tyr720Ter)
c.2460C>G (p.Tyr820Ter)
n.2911C>G
9g.104825702G=CA1869914956ABCA1c.2523C= (p.Tyr841=)
n.696C=
c.2343C= (p.Tyr781=)
c.2598C= (p.Tyr866=)
c.2160C= (p.Tyr720=)
c.2460C= (p.Tyr820=)
n.2911C=
9g.104825702G>TCA374320925ABCA1c.2523C>A (p.Tyr841Ter)
n.696C>A
c.2343C>A (p.Tyr781Ter)
c.2598C>A (p.Tyr866Ter)
c.2160C>A (p.Tyr720Ter)
c.2460C>A (p.Tyr820Ter)
n.2911C>A
9g.104825703T>ACA374320930ABCA1c.2522A>T (p.Tyr841Phe)
n.695A>T
c.2342A>T (p.Tyr781Phe)
c.2597A>T (p.Tyr866Phe)
c.2159A>T (p.Tyr720Phe)
c.2459A>T (p.Tyr820Phe)
n.2910A>T
9g.104825703T>CCA5168712ABCA1c.2522A>G (p.Tyr841Cys)
n.695A>G
c.2342A>G (p.Tyr781Cys)
c.2597A>G (p.Tyr866Cys)
c.2159A>G (p.Tyr720Cys)
c.2459A>G (p.Tyr820Cys)
n.2910A>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825703T>GCA374320932ABCA1c.2522A>C (p.Tyr841Ser)
n.695A>C
c.2342A>C (p.Tyr781Ser)
c.2597A>C (p.Tyr866Ser)
c.2159A>C (p.Tyr720Ser)
c.2459A>C (p.Tyr820Ser)
n.2910A>C
9g.104825703T=CA1869914959ABCA1c.2522A= (p.Tyr841=)
n.695A=
c.2342A= (p.Tyr781=)
c.2597A= (p.Tyr866=)
c.2159A= (p.Tyr720=)
c.2459A= (p.Tyr820=)
n.2910A=
9g.104825704A=CA1869914961ABCA1c.2521T= (p.Tyr841=)
n.694T=
c.2341T= (p.Tyr781=)
c.2596T= (p.Tyr866=)
c.2158T= (p.Tyr720=)
c.2458T= (p.Tyr820=)
n.2909T=
9g.104825704A>CCA374320934ABCA1c.2521T>G (p.Tyr841Asp)
n.694T>G
c.2341T>G (p.Tyr781Asp)
c.2596T>G (p.Tyr866Asp)
c.2158T>G (p.Tyr720Asp)
c.2458T>G (p.Tyr820Asp)
n.2909T>G
gnomAD v4
9g.104825704A>GCA5168713ABCA1c.2521T>C (p.Tyr841His)
n.694T>C
c.2341T>C (p.Tyr781His)
c.2596T>C (p.Tyr866His)
c.2158T>C (p.Tyr720His)
c.2458T>C (p.Tyr820His)
n.2909T>C
dbSNP ExAC
9g.104825704A>TCA374320936ABCA1c.2521T>A (p.Tyr841Asn)
n.694T>A
c.2341T>A (p.Tyr781Asn)
c.2596T>A (p.Tyr866Asn)
c.2158T>A (p.Tyr720Asn)
c.2458T>A (p.Tyr820Asn)
n.2909T>A
9g.104825705C>ACA374320938ABCA1c.2520G>T (p.Trp840Cys)
n.693G>T
c.2340G>T (p.Trp780Cys)
c.2595G>T (p.Trp865Cys)
c.2157G>T (p.Trp719Cys)
c.2457G>T (p.Trp819Cys)
n.2908G>T
9g.104825705C>GCA374320940ABCA1c.2520G>C (p.Trp840Cys)
n.693G>C
c.2340G>C (p.Trp780Cys)
c.2595G>C (p.Trp865Cys)
c.2157G>C (p.Trp719Cys)
c.2457G>C (p.Trp819Cys)
n.2908G>C
9g.104825705C>TCA374320941ABCA1c.2520G>A (p.Trp840Ter)
n.693G>A
c.2340G>A (p.Trp780Ter)
c.2595G>A (p.Trp865Ter)
c.2157G>A (p.Trp719Ter)
c.2457G>A (p.Trp819Ter)
n.2908G>A
9g.104825706C>ACA197392832ABCA1c.2519G>T (p.Trp840Leu)
n.692G>T
c.2339G>T (p.Trp780Leu)
c.2594G>T (p.Trp865Leu)
c.2156G>T (p.Trp719Leu)
c.2456G>T (p.Trp819Leu)
n.2907G>T
dbSNP
9g.104825706C=CA1869914964ABCA1c.2519G= (p.Trp840=)
n.692G=
c.2339G= (p.Trp780=)
c.2594G= (p.Trp865=)
c.2156G= (p.Trp719=)
c.2456G= (p.Trp819=)
n.2907G=
9g.104825706C>GCA374320944ABCA1c.2519G>C (p.Trp840Ser)
n.692G>C
c.2339G>C (p.Trp780Ser)
c.2594G>C (p.Trp865Ser)
c.2156G>C (p.Trp719Ser)
c.2456G>C (p.Trp819Ser)
n.2907G>C
9g.104825706C>TCA374320945ABCA1c.2519G>A (p.Trp840Ter)
n.692G>A
c.2339G>A (p.Trp780Ter)
c.2594G>A (p.Trp865Ter)
c.2156G>A (p.Trp719Ter)
c.2456G>A (p.Trp819Ter)
n.2907G>A
9g.104825707A=CA1869914968ABCA1c.2518T= (p.Trp840=)
n.691T=
c.2338T= (p.Trp780=)
c.2593T= (p.Trp865=)
c.2155T= (p.Trp719=)
c.2455T= (p.Trp819=)
n.2906T=
9g.104825707A>CCA374320949ABCA1c.2518T>G (p.Trp840Gly)
n.691T>G
c.2338T>G (p.Trp780Gly)
c.2593T>G (p.Trp865Gly)
c.2155T>G (p.Trp719Gly)
c.2455T>G (p.Trp819Gly)
n.2906T>G
9g.104825707A>GCA374320947ABCA1c.2518T>C (p.Trp840Arg)
n.691T>C
c.2338T>C (p.Trp780Arg)
c.2593T>C (p.Trp865Arg)
c.2155T>C (p.Trp719Arg)
c.2455T>C (p.Trp819Arg)
n.2906T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825707A>TCA374320948ABCA1c.2518T>A (p.Trp840Arg)
n.691T>A
c.2338T>A (p.Trp780Arg)
c.2593T>A (p.Trp865Arg)
c.2155T>A (p.Trp719Arg)
c.2455T>A (p.Trp819Arg)
n.2906T>A
9g.104825708G>ACA466506869ABCA1c.2517C>T (p.Thr839=)
n.690C>T
c.2337C>T (p.Thr779=)
c.2592C>T (p.Thr864=)
c.2154C>T (p.Thr718=)
c.2454C>T (p.Thr818=)
n.2905C>T
9g.104825708G>CCA466506870ABCA1c.2517C>G (p.Thr839=)
n.690C>G
c.2337C>G (p.Thr779=)
c.2592C>G (p.Thr864=)
c.2154C>G (p.Thr718=)
c.2454C>G (p.Thr818=)
n.2905C>G
9g.104825708G>TCA466506871ABCA1c.2517C>A (p.Thr839=)
n.690C>A
c.2337C>A (p.Thr779=)
c.2592C>A (p.Thr864=)
c.2154C>A (p.Thr718=)
c.2454C>A (p.Thr818=)
n.2905C>A
9g.104825709G>ACA374320950ABCA1c.2516C>T (p.Thr839Ile)
n.689C>T
c.2336C>T (p.Thr779Ile)
c.2591C>T (p.Thr864Ile)
c.2153C>T (p.Thr718Ile)
c.2453C>T (p.Thr818Ile)
n.2904C>T
9g.104825709G>CCA374320952ABCA1c.2516C>G (p.Thr839Ser)
n.689C>G
c.2336C>G (p.Thr779Ser)
c.2591C>G (p.Thr864Ser)
c.2153C>G (p.Thr718Ser)
c.2453C>G (p.Thr818Ser)
n.2904C>G
gnomAD v4
9g.104825709G>TCA374320953ABCA1c.2516C>A (p.Thr839Asn)
n.689C>A
c.2336C>A (p.Thr779Asn)
c.2591C>A (p.Thr864Asn)
c.2153C>A (p.Thr718Asn)
c.2453C>A (p.Thr818Asn)
n.2904C>A
9g.104825710T>ACA374320955ABCA1c.2515A>T (p.Thr839Ser)
n.688A>T
c.2335A>T (p.Thr779Ser)
c.2590A>T (p.Thr864Ser)
c.2152A>T (p.Thr718Ser)
c.2452A>T (p.Thr818Ser)
n.2903A>T
9g.104825710T>CCA197392834ABCA1c.2515A>G (p.Thr839Ala)
n.688A>G
c.2335A>G (p.Thr779Ala)
c.2590A>G (p.Thr864Ala)
c.2152A>G (p.Thr718Ala)
c.2452A>G (p.Thr818Ala)
n.2903A>G
dbSNP
9g.104825710T>GCA374320958ABCA1c.2515A>C (p.Thr839Pro)
n.688A>C
c.2335A>C (p.Thr779Pro)
c.2590A>C (p.Thr864Pro)
c.2152A>C (p.Thr718Pro)
c.2452A>C (p.Thr818Pro)
n.2903A>C
9g.104825710T=CA1869914974ABCA1c.2515A= (p.Thr839=)
n.688A=
c.2335A= (p.Thr779=)
c.2590A= (p.Thr864=)
c.2152A= (p.Thr718=)
c.2452A= (p.Thr818=)
n.2903A=
9g.104825711C>ACA374320960ABCA1c.2514G>T (p.Met838Ile)
n.687G>T
c.2334G>T (p.Met778Ile)
c.2589G>T (p.Met863Ile)
c.2151G>T (p.Met717Ile)
c.2451G>T (p.Met817Ile)
n.2902G>T
9g.104825711C>GCA374320961ABCA1c.2514G>C (p.Met838Ile)
n.687G>C
c.2334G>C (p.Met778Ile)
c.2589G>C (p.Met863Ile)
c.2151G>C (p.Met717Ile)
c.2451G>C (p.Met817Ile)
n.2902G>C
9g.104825711C>TCA374320963ABCA1c.2514G>A (p.Met838Ile)
n.687G>A
c.2334G>A (p.Met778Ile)
c.2589G>A (p.Met863Ile)
c.2151G>A (p.Met717Ile)
c.2451G>A (p.Met817Ile)
n.2902G>A
gnomAD v4
9g.104825712A>CCA374320965ABCA1c.2513T>G (p.Met838Arg)
n.686T>G
c.2333T>G (p.Met778Arg)
c.2588T>G (p.Met863Arg)
c.2150T>G (p.Met717Arg)
c.2450T>G (p.Met817Arg)
n.2901T>G
9g.104825712A>GCA374320967ABCA1c.2513T>C (p.Met838Thr)
n.686T>C
c.2333T>C (p.Met778Thr)
c.2588T>C (p.Met863Thr)
c.2150T>C (p.Met717Thr)
c.2450T>C (p.Met817Thr)
n.2901T>C
9g.104825712A>TCA374320968ABCA1c.2513T>A (p.Met838Lys)
n.686T>A
c.2333T>A (p.Met778Lys)
c.2588T>A (p.Met863Lys)
c.2150T>A (p.Met717Lys)
c.2450T>A (p.Met817Lys)
n.2901T>A
9g.104825713T>ACA374320971ABCA1c.2512A>T (p.Met838Leu)
n.685A>T
c.2332A>T (p.Met778Leu)
c.2587A>T (p.Met863Leu)
c.2149A>T (p.Met717Leu)
c.2449A>T (p.Met817Leu)
n.2900A>T
9g.104825713T>CCA5168714ABCA1c.2512A>G (p.Met838Val)
n.685A>G
c.2332A>G (p.Met778Val)
c.2587A>G (p.Met863Val)
c.2149A>G (p.Met717Val)
c.2449A>G (p.Met817Val)
n.2900A>G
dbSNP ExAC
9g.104825713T>GCA374320970ABCA1c.2512A>C (p.Met838Leu)
n.685A>C
c.2332A>C (p.Met778Leu)
c.2587A>C (p.Met863Leu)
c.2149A>C (p.Met717Leu)
c.2449A>C (p.Met817Leu)
n.2900A>C
9g.104825713T=CA1869914980ABCA1c.2512A= (p.Met838=)
n.685A=
c.2332A= (p.Met778=)
c.2587A= (p.Met863=)
c.2149A= (p.Met717=)
c.2449A= (p.Met817=)
n.2900A=
9g.104825714C>ACA466506873ABCA1c.2511G>T (p.Val837=)
n.684G>T
c.2331G>T (p.Val777=)
c.2586G>T (p.Val862=)
c.2148G>T (p.Val716=)
c.2448G>T (p.Val816=)
n.2899G>T
9g.104825714C>GCA466506874ABCA1c.2511G>C (p.Val837=)
n.684G>C
c.2331G>C (p.Val777=)
c.2586G>C (p.Val862=)
c.2148G>C (p.Val716=)
c.2448G>C (p.Val816=)
n.2899G>C
9g.104825714C>TCA466506872ABCA1c.2511G>A (p.Val837=)
n.684G>A
c.2331G>A (p.Val777=)
c.2586G>A (p.Val862=)
c.2148G>A (p.Val716=)
c.2448G>A (p.Val816=)
n.2899G>A
9g.104825715_104825716delCA2509167205ABCA1c.2510_2511del (p.Val837AspfsTer6)
n.683_684del
c.2330_2331del (p.Val777AspfsTer6)
c.2585_2586del (p.Val862AspfsTer6)
c.2147_2148del (p.Val716AspfsTer6)
c.2447_2448del (p.Val816AspfsTer6)
n.2898_2899del
9g.104825715A>CCA374320975ABCA1c.2510T>G (p.Val837Gly)
n.683T>G
c.2330T>G (p.Val777Gly)
c.2585T>G (p.Val862Gly)
c.2147T>G (p.Val716Gly)
c.2447T>G (p.Val816Gly)
n.2898T>G
9g.104825715A>GCA374320973ABCA1c.2510T>C (p.Val837Ala)
n.683T>C
c.2330T>C (p.Val777Ala)
c.2585T>C (p.Val862Ala)
c.2147T>C (p.Val716Ala)
c.2447T>C (p.Val816Ala)
n.2898T>C
9g.104825715A>TCA374320974ABCA1c.2510T>A (p.Val837Glu)
n.683T>A
c.2330T>A (p.Val777Glu)
c.2585T>A (p.Val862Glu)
c.2147T>A (p.Val716Glu)
c.2447T>A (p.Val816Glu)
n.2898T>A
9g.104825716C>ACA5168715ABCA1c.2509G>T (p.Val837Leu)
n.682G>T
c.2329G>T (p.Val777Leu)
c.2584G>T (p.Val862Leu)
c.2146G>T (p.Val716Leu)
c.2446G>T (p.Val816Leu)
n.2897G>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825716C=CA1869914982ABCA1c.2509G= (p.Val837=)
n.682G=
c.2329G= (p.Val777=)
c.2584G= (p.Val862=)
c.2146G= (p.Val716=)
c.2446G= (p.Val816=)
n.2897G=
9g.104825716C>GCA374320978ABCA1c.2509G>C (p.Val837Leu)
n.682G>C
c.2329G>C (p.Val777Leu)
c.2584G>C (p.Val862Leu)
c.2146G>C (p.Val716Leu)
c.2446G>C (p.Val816Leu)
n.2897G>C
9g.104825716C>TCA374320979ABCA1c.2509G>A (p.Val837Met)
n.682G>A
c.2329G>A (p.Val777Met)
c.2584G>A (p.Val862Met)
c.2146G>A (p.Val716Met)
c.2446G>A (p.Val816Met)
n.2897G>A
gnomAD v4
9g.104825717C>ACA466506875ABCA1c.2508G>T (p.Gly836=)
n.681G>T
c.2328G>T (p.Gly776=)
c.2583G>T (p.Gly861=)
c.2145G>T (p.Gly715=)
c.2445G>T (p.Gly815=)
n.2896G>T
9g.104825717C>GCA466506876ABCA1c.2508G>C (p.Gly836=)
n.681G>C
c.2328G>C (p.Gly776=)
c.2583G>C (p.Gly861=)
c.2145G>C (p.Gly715=)
c.2445G>C (p.Gly815=)
n.2896G>C
9g.104825717C>TCA466506877ABCA1c.2508G>A (p.Gly836=)
n.681G>A
c.2328G>A (p.Gly776=)
c.2583G>A (p.Gly861=)
c.2145G>A (p.Gly715=)
c.2445G>A (p.Gly815=)
n.2896G>A
9g.104825718C>ACA374320980ABCA1c.2507G>T (p.Gly836Val)
n.680G>T
c.2327G>T (p.Gly776Val)
c.2582G>T (p.Gly861Val)
c.2144G>T (p.Gly715Val)
c.2444G>T (p.Gly815Val)
n.2895G>T
9g.104825718C>GCA374320984ABCA1c.2507G>C (p.Gly836Ala)
n.680G>C
c.2327G>C (p.Gly776Ala)
c.2582G>C (p.Gly861Ala)
c.2144G>C (p.Gly715Ala)
c.2444G>C (p.Gly815Ala)
n.2895G>C
9g.104825718C>TCA374320985ABCA1c.2507G>A (p.Gly836Glu)
n.680G>A
c.2327G>A (p.Gly776Glu)
c.2582G>A (p.Gly861Glu)
c.2144G>A (p.Gly715Glu)
c.2444G>A (p.Gly815Glu)
n.2895G>A
9g.104825719C>ACA374320987ABCA1c.2506G>T (p.Gly836Trp)
n.679G>T
c.2326G>T (p.Gly776Trp)
c.2581G>T (p.Gly861Trp)
c.2143G>T (p.Gly715Trp)
c.2443G>T (p.Gly815Trp)
n.2894G>T
9g.104825719C=CA1869914985ABCA1c.2506G= (p.Gly836=)
n.679G=
c.2326G= (p.Gly776=)
c.2581G= (p.Gly861=)
c.2143G= (p.Gly715=)
c.2443G= (p.Gly815=)
n.2894G=
9g.104825719C>GCA374320988ABCA1c.2506G>C (p.Gly836Arg)
n.679G>C
c.2326G>C (p.Gly776Arg)
c.2581G>C (p.Gly861Arg)
c.2143G>C (p.Gly715Arg)
c.2443G>C (p.Gly815Arg)
n.2894G>C
9g.104825719C>TCA374320989ABCA1c.2506G>A (p.Gly836Arg)
n.679G>A
c.2326G>A (p.Gly776Arg)
c.2581G>A (p.Gly861Arg)
c.2143G>A (p.Gly715Arg)
c.2443G>A (p.Gly815Arg)
n.2894G>A
dbSNP gnomAD v2 gnomAD v4
9g.104825720A>CCA374320991ABCA1c.2505T>G (p.Tyr835Ter)
n.678T>G
c.2325T>G (p.Tyr775Ter)
c.2580T>G (p.Tyr860Ter)
c.2142T>G (p.Tyr714Ter)
c.2442T>G (p.Tyr814Ter)
n.2893T>G
gnomAD v4
9g.104825720A>GCA466506878ABCA1c.2505T>C (p.Tyr835=)
n.678T>C
c.2325T>C (p.Tyr775=)
c.2580T>C (p.Tyr860=)
c.2142T>C (p.Tyr714=)
c.2442T>C (p.Tyr814=)
n.2893T>C
9g.104825720A>TCA374320992ABCA1c.2505T>A (p.Tyr835Ter)
n.678T>A
c.2325T>A (p.Tyr775Ter)
c.2580T>A (p.Tyr860Ter)
c.2142T>A (p.Tyr714Ter)
c.2442T>A (p.Tyr814Ter)
n.2893T>A
9g.104825721T>ACA374320998ABCA1c.2504A>T (p.Tyr835Phe)
n.677A>T
c.2324A>T (p.Tyr775Phe)
c.2579A>T (p.Tyr860Phe)
c.2141A>T (p.Tyr714Phe)
c.2441A>T (p.Tyr814Phe)
n.2892A>T
9g.104825721T>CCA374320994ABCA1c.2504A>G (p.Tyr835Cys)
n.677A>G
c.2324A>G (p.Tyr775Cys)
c.2579A>G (p.Tyr860Cys)
c.2141A>G (p.Tyr714Cys)
c.2441A>G (p.Tyr814Cys)
n.2892A>G
dbSNP
9g.104825721T>GCA374320996ABCA1c.2504A>C (p.Tyr835Ser)
n.677A>C
c.2324A>C (p.Tyr775Ser)
c.2579A>C (p.Tyr860Ser)
c.2141A>C (p.Tyr714Ser)
c.2441A>C (p.Tyr814Ser)
n.2892A>C
dbSNP gnomAD v2
9g.104825721T=CA1869914988ABCA1c.2504A= (p.Tyr835=)
n.677A=
c.2324A= (p.Tyr775=)
c.2579A= (p.Tyr860=)
c.2141A= (p.Tyr714=)
c.2441A= (p.Tyr814=)
n.2892A=
9g.104825722A=CA1869914992ABCA1c.2503T= (p.Tyr835=)
n.676T=
c.2323T= (p.Tyr775=)
c.2578T= (p.Tyr860=)
c.2140T= (p.Tyr714=)
c.2440T= (p.Tyr814=)
n.2891T=
9g.104825722A>CCA374320999ABCA1c.2503T>G (p.Tyr835Asp)
n.676T>G
c.2323T>G (p.Tyr775Asp)
c.2578T>G (p.Tyr860Asp)
c.2140T>G (p.Tyr714Asp)
c.2440T>G (p.Tyr814Asp)
n.2891T>G
9g.104825722A>GCA5168716ABCA1c.2503T>C (p.Tyr835His)
n.676T>C
c.2323T>C (p.Tyr775His)
c.2578T>C (p.Tyr860His)
c.2140T>C (p.Tyr714His)
c.2440T>C (p.Tyr814His)
n.2891T>C
dbSNP ExAC gnomAD v2
9g.104825722A>TCA374321001ABCA1c.2503T>A (p.Tyr835Asn)
n.676T>A
c.2323T>A (p.Tyr775Asn)
c.2578T>A (p.Tyr860Asn)
c.2140T>A (p.Tyr714Asn)
c.2440T>A (p.Tyr814Asn)
n.2891T>A
9g.104825723G>ACA466506879ABCA1c.2502C>T (p.Leu834=)
n.675C>T
c.2322C>T (p.Leu774=)
c.2577C>T (p.Leu859=)
c.2139C>T (p.Leu713=)
c.2439C>T (p.Leu813=)
n.2890C>T
dbSNP gnomAD v3 gnomAD v4
9g.104825723G>CCA466506880ABCA1c.2502C>G (p.Leu834=)
n.675C>G
c.2322C>G (p.Leu774=)
c.2577C>G (p.Leu859=)
c.2139C>G (p.Leu713=)
c.2439C>G (p.Leu813=)
n.2890C>G
dbSNP
9g.104825723G=CA1869914994ABCA1c.2502C= (p.Leu834=)
n.675C=
c.2322C= (p.Leu774=)
c.2577C= (p.Leu859=)
c.2139C= (p.Leu713=)
c.2439C= (p.Leu813=)
n.2890C=
9g.104825723G>TCA466506881ABCA1c.2502C>A (p.Leu834=)
n.675C>A
c.2322C>A (p.Leu774=)
c.2577C>A (p.Leu859=)
c.2139C>A (p.Leu713=)
c.2439C>A (p.Leu813=)
n.2890C>A
9g.104825724A>CCA374321002ABCA1c.2501T>G (p.Leu834Arg)
n.674T>G
c.2321T>G (p.Leu774Arg)
c.2576T>G (p.Leu859Arg)
c.2138T>G (p.Leu713Arg)
c.2438T>G (p.Leu813Arg)
n.2889T>G
9g.104825724A>GCA374321003ABCA1c.2501T>C (p.Leu834Pro)
n.674T>C
c.2321T>C (p.Leu774Pro)
c.2576T>C (p.Leu859Pro)
c.2138T>C (p.Leu713Pro)
c.2438T>C (p.Leu813Pro)
n.2889T>C
gnomAD v4
9g.104825724A>TCA374321005ABCA1c.2501T>A (p.Leu834His)
n.674T>A
c.2321T>A (p.Leu774His)
c.2576T>A (p.Leu859His)
c.2138T>A (p.Leu713His)
c.2438T>A (p.Leu813His)
n.2889T>A
9g.104825725G>ACA5168717ABCA1c.2500C>T (p.Leu834Phe)
n.673C>T
c.2320C>T (p.Leu774Phe)
c.2575C>T (p.Leu859Phe)
c.2137C>T (p.Leu713Phe)
c.2437C>T (p.Leu813Phe)
n.2888C>T
dbSNP ExAC gnomAD v4
9g.104825725G>CCA374321008ABCA1c.2500C>G (p.Leu834Val)
n.673C>G
c.2320C>G (p.Leu774Val)
c.2575C>G (p.Leu859Val)
c.2137C>G (p.Leu713Val)
c.2437C>G (p.Leu813Val)
n.2888C>G
9g.104825725G=CA1869914996ABCA1c.2500C= (p.Leu834=)
n.673C=
c.2320C= (p.Leu774=)
c.2575C= (p.Leu859=)
c.2137C= (p.Leu713=)
c.2437C= (p.Leu813=)
n.2888C=
9g.104825725G>TCA374321010ABCA1c.2500C>A (p.Leu834Ile)
n.673C>A
c.2320C>A (p.Leu774Ile)
c.2575C>A (p.Leu859Ile)
c.2137C>A (p.Leu713Ile)
c.2437C>A (p.Leu813Ile)
n.2888C>A
9g.104825726G>ACA466506882ABCA1c.2499C>T (p.Phe833=)
n.672C>T
c.2319C>T (p.Phe773=)
c.2574C>T (p.Phe858=)
c.2136C>T (p.Phe712=)
c.2436C>T (p.Phe812=)
n.2887C>T
dbSNP gnomAD v3 gnomAD v4
9g.104825726G>CCA374321012ABCA1c.2499C>G (p.Phe833Leu)
n.672C>G
c.2319C>G (p.Phe773Leu)
c.2574C>G (p.Phe858Leu)
c.2136C>G (p.Phe712Leu)
c.2436C>G (p.Phe812Leu)
n.2887C>G
9g.104825726G=CA1869915000ABCA1c.2499C= (p.Phe833=)
n.672C=
c.2319C= (p.Phe773=)
c.2574C= (p.Phe858=)
c.2136C= (p.Phe712=)
c.2436C= (p.Phe812=)
n.2887C=
9g.104825726G>TCA374321013ABCA1c.2499C>A (p.Phe833Leu)
n.672C>A
c.2319C>A (p.Phe773Leu)
c.2574C>A (p.Phe858Leu)
c.2136C>A (p.Phe712Leu)
c.2436C>A (p.Phe812Leu)
n.2887C>A
9g.104825727A>CCA374321019ABCA1c.2498T>G (p.Phe833Cys)
n.671T>G
c.2318T>G (p.Phe773Cys)
c.2573T>G (p.Phe858Cys)
c.2135T>G (p.Phe712Cys)
c.2435T>G (p.Phe812Cys)
n.2886T>G
9g.104825727A>GCA374321017ABCA1c.2498T>C (p.Phe833Ser)
n.671T>C
c.2318T>C (p.Phe773Ser)
c.2573T>C (p.Phe858Ser)
c.2135T>C (p.Phe712Ser)
c.2435T>C (p.Phe812Ser)
n.2886T>C
9g.104825727A>TCA374321016ABCA1c.2498T>A (p.Phe833Tyr)
n.671T>A
c.2318T>A (p.Phe773Tyr)
c.2573T>A (p.Phe858Tyr)
c.2135T>A (p.Phe712Tyr)
c.2435T>A (p.Phe812Tyr)
n.2886T>A
9g.104825728A=CA1869915003ABCA1c.2497T= (p.Phe833=)
n.670T=
c.2317T= (p.Phe773=)
c.2572T= (p.Phe858=)
c.2134T= (p.Phe712=)
c.2434T= (p.Phe812=)
n.2885T=
9g.104825728A>CCA197392857ABCA1c.2497T>G (p.Phe833Val)
n.670T>G
c.2317T>G (p.Phe773Val)
c.2572T>G (p.Phe858Val)
c.2134T>G (p.Phe712Val)
c.2434T>G (p.Phe812Val)
n.2885T>G
dbSNP gnomAD v3 gnomAD v4
9g.104825728A>GCA374321021ABCA1c.2497T>C (p.Phe833Leu)
n.670T>C
c.2317T>C (p.Phe773Leu)
c.2572T>C (p.Phe858Leu)
c.2134T>C (p.Phe712Leu)
c.2434T>C (p.Phe812Leu)
n.2885T>C
9g.104825728A>TCA374321023ABCA1c.2497T>A (p.Phe833Ile)
n.670T>A
c.2317T>A (p.Phe773Ile)
c.2572T>A (p.Phe858Ile)
c.2134T>A (p.Phe712Ile)
c.2434T>A (p.Phe812Ile)
n.2885T>A
9g.104825729G>ACA466506883ABCA1c.2496C>T (p.Thr832=)
n.669C>T
c.2316C>T (p.Thr772=)
c.2571C>T (p.Thr857=)
c.2133C>T (p.Thr711=)
c.2433C>T (p.Thr811=)
n.2884C>T
dbSNP gnomAD v4
9g.104825729G>CCA466506884ABCA1c.2496C>G (p.Thr832=)
n.669C>G
c.2316C>G (p.Thr772=)
c.2571C>G (p.Thr857=)
c.2133C>G (p.Thr711=)
c.2433C>G (p.Thr811=)
n.2884C>G
9g.104825729G=CA1869915007ABCA1c.2496C= (p.Thr832=)
n.669C=
c.2316C= (p.Thr772=)
c.2571C= (p.Thr857=)
c.2133C= (p.Thr711=)
c.2433C= (p.Thr811=)
n.2884C=
9g.104825729G>TCA466506885ABCA1c.2496C>A (p.Thr832=)
n.669C>A
c.2316C>A (p.Thr772=)
c.2571C>A (p.Thr857=)
c.2133C>A (p.Thr711=)
c.2433C>A (p.Thr811=)
n.2884C>A
9g.104825730G>ACA374321025ABCA1c.2495C>T (p.Thr832Ile)
n.668C>T
c.2315C>T (p.Thr772Ile)
c.2570C>T (p.Thr857Ile)
c.2132C>T (p.Thr711Ile)
c.2432C>T (p.Thr811Ile)
n.2883C>T
gnomAD v4
9g.104825730G>CCA374321026ABCA1c.2495C>G (p.Thr832Ser)
n.668C>G
c.2315C>G (p.Thr772Ser)
c.2570C>G (p.Thr857Ser)
c.2132C>G (p.Thr711Ser)
c.2432C>G (p.Thr811Ser)
n.2883C>G
9g.104825730G=CA1869915010ABCA1c.2495C= (p.Thr832=)
n.668C=
c.2315C= (p.Thr772=)
c.2570C= (p.Thr857=)
c.2132C= (p.Thr711=)
c.2432C= (p.Thr811=)
n.2883C=
9g.104825730G>TCA5168718ABCA1c.2495C>A (p.Thr832Asn)
n.668C>A
c.2315C>A (p.Thr772Asn)
c.2570C>A (p.Thr857Asn)
c.2132C>A (p.Thr711Asn)
c.2432C>A (p.Thr811Asn)
n.2883C>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825731T>ACA374321034ABCA1c.2494A>T (p.Thr832Ser)
n.667A>T
c.2314A>T (p.Thr772Ser)
c.2569A>T (p.Thr857Ser)
c.2131A>T (p.Thr711Ser)
c.2431A>T (p.Thr811Ser)
n.2882A>T
9g.104825731T>CCA374321030ABCA1c.2494A>G (p.Thr832Ala)
n.667A>G
c.2314A>G (p.Thr772Ala)
c.2569A>G (p.Thr857Ala)
c.2131A>G (p.Thr711Ala)
c.2431A>G (p.Thr811Ala)
n.2882A>G
9g.104825731T>GCA374321032ABCA1c.2494A>C (p.Thr832Pro)
n.667A>C
c.2314A>C (p.Thr772Pro)
c.2569A>C (p.Thr857Pro)
c.2131A>C (p.Thr711Pro)
c.2431A>C (p.Thr811Pro)
n.2882A>C
COSMIC
9g.104825732G>ACA466506886ABCA1c.2493C>T (p.Asp831=)
n.666C>T
c.2313C>T (p.Asp771=)
c.2568C>T (p.Asp856=)
c.2130C>T (p.Asp710=)
c.2430C>T (p.Asp810=)
n.2881C>T
dbSNP gnomAD v3 gnomAD v4
9g.104825732G>CCA374321036ABCA1c.2493C>G (p.Asp831Glu)
n.666C>G
c.2313C>G (p.Asp771Glu)
c.2568C>G (p.Asp856Glu)
c.2130C>G (p.Asp710Glu)
c.2430C>G (p.Asp810Glu)
n.2881C>G
9g.104825732G=CA1869915011ABCA1c.2493C= (p.Asp831=)
n.666C=
c.2313C= (p.Asp771=)
c.2568C= (p.Asp856=)
c.2130C= (p.Asp710=)
c.2430C= (p.Asp810=)
n.2881C=
9g.104825732G>TCA374321038ABCA1c.2493C>A (p.Asp831Glu)
n.666C>A
c.2313C>A (p.Asp771Glu)
c.2568C>A (p.Asp856Glu)
c.2130C>A (p.Asp710Glu)
c.2430C>A (p.Asp810Glu)
n.2881C>A
9g.104825733T>ACA374321041ABCA1c.2492A>T (p.Asp831Val)
n.665A>T
c.2312A>T (p.Asp771Val)
c.2567A>T (p.Asp856Val)
c.2129A>T (p.Asp710Val)
c.2429A>T (p.Asp810Val)
n.2880A>T
dbSNP
9g.104825733T>CCA374321042ABCA1c.2492A>G (p.Asp831Gly)
n.665A>G
c.2312A>G (p.Asp771Gly)
c.2567A>G (p.Asp856Gly)
c.2129A>G (p.Asp710Gly)
c.2429A>G (p.Asp810Gly)
n.2880A>G
9g.104825733T>GCA374321044ABCA1c.2492A>C (p.Asp831Ala)
n.665A>C
c.2312A>C (p.Asp771Ala)
c.2567A>C (p.Asp856Ala)
c.2129A>C (p.Asp710Ala)
c.2429A>C (p.Asp810Ala)
n.2880A>C
9g.104825734C>ACA374321045ABCA1c.2491G>T (p.Asp831Tyr)
n.664G>T
c.2311G>T (p.Asp771Tyr)
c.2566G>T (p.Asp856Tyr)
c.2128G>T (p.Asp710Tyr)
c.2428G>T (p.Asp810Tyr)
n.2879G>T
9g.104825734C=CA1869915015ABCA1c.2491G= (p.Asp831=)
n.664G=
c.2311G= (p.Asp771=)
c.2566G= (p.Asp856=)
c.2128G= (p.Asp710=)
c.2428G= (p.Asp810=)
n.2879G=
9g.104825734C>GCA374321047ABCA1c.2491G>C (p.Asp831His)
n.664G>C
c.2311G>C (p.Asp771His)
c.2566G>C (p.Asp856His)
c.2128G>C (p.Asp710His)
c.2428G>C (p.Asp810His)
n.2879G>C
9g.104825734C>TCA197392867ABCA1c.2491G>A (p.Asp831Asn)
n.664G>A
c.2311G>A (p.Asp771Asn)
c.2566G>A (p.Asp856Asn)
c.2128G>A (p.Asp710Asn)
c.2428G>A (p.Asp810Asn)
n.2879G>A
dbSNP
9g.104825735A=CA1869915018ABCA1c.2490T= (p.Phe830=)
n.663T=
c.2310T= (p.Phe770=)
c.2565T= (p.Phe855=)
c.2127T= (p.Phe709=)
c.2427T= (p.Phe809=)
n.2878T=
9g.104825735A>CCA5168719ABCA1c.2490T>G (p.Phe830Leu)
n.663T>G
c.2310T>G (p.Phe770Leu)
c.2565T>G (p.Phe855Leu)
c.2127T>G (p.Phe709Leu)
c.2427T>G (p.Phe809Leu)
n.2878T>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825735A>GCA466506887ABCA1c.2490T>C (p.Phe830=)
n.663T>C
c.2310T>C (p.Phe770=)
c.2565T>C (p.Phe855=)
c.2127T>C (p.Phe709=)
c.2427T>C (p.Phe809=)
n.2878T>C
9g.104825735A>TCA5168720ABCA1c.2490T>A (p.Phe830Leu)
n.663T>A
c.2310T>A (p.Phe770Leu)
c.2565T>A (p.Phe855Leu)
c.2127T>A (p.Phe709Leu)
c.2427T>A (p.Phe809Leu)
n.2878T>A
dbSNP ExAC gnomAD v2
9g.104825736A>CCA374321050ABCA1c.2489T>G (p.Phe830Cys)
n.662T>G
c.2309T>G (p.Phe770Cys)
c.2564T>G (p.Phe855Cys)
c.2126T>G (p.Phe709Cys)
c.2426T>G (p.Phe809Cys)
n.2877T>G
9g.104825736A>GCA374321052ABCA1c.2489T>C (p.Phe830Ser)
n.662T>C
c.2309T>C (p.Phe770Ser)
c.2564T>C (p.Phe855Ser)
c.2126T>C (p.Phe709Ser)
c.2426T>C (p.Phe809Ser)
n.2877T>C
9g.104825736A>TCA374321053ABCA1c.2489T>A (p.Phe830Tyr)
n.662T>A
c.2309T>A (p.Phe770Tyr)
c.2564T>A (p.Phe855Tyr)
c.2126T>A (p.Phe709Tyr)
c.2426T>A (p.Phe809Tyr)
n.2877T>A
9g.104825737A>CCA374321056ABCA1c.2488T>G (p.Phe830Val)
n.661T>G
c.2308T>G (p.Phe770Val)
c.2563T>G (p.Phe855Val)
c.2125T>G (p.Phe709Val)
c.2425T>G (p.Phe809Val)
n.2876T>G
9g.104825737A>GCA374321057ABCA1c.2488T>C (p.Phe830Leu)
n.661T>C
c.2308T>C (p.Phe770Leu)
c.2563T>C (p.Phe855Leu)
c.2125T>C (p.Phe709Leu)
c.2425T>C (p.Phe809Leu)
n.2876T>C
9g.104825737A>TCA374321059ABCA1c.2488T>A (p.Phe830Ile)
n.661T>A
c.2308T>A (p.Phe770Ile)
c.2563T>A (p.Phe855Ile)
c.2125T>A (p.Phe709Ile)
c.2425T>A (p.Phe809Ile)
n.2876T>A
9g.104825738C>ACA466506888ABCA1c.2487G>T (p.Leu829=)
n.660G>T
c.2307G>T (p.Leu769=)
c.2562G>T (p.Leu854=)
c.2124G>T (p.Leu708=)
c.2424G>T (p.Leu808=)
n.2875G>T
9g.104825738C>GCA466506889ABCA1c.2487G>C (p.Leu829=)
n.660G>C
c.2307G>C (p.Leu769=)
c.2562G>C (p.Leu854=)
c.2124G>C (p.Leu708=)
c.2424G>C (p.Leu808=)
n.2875G>C
9g.104825738C>TCA466506890ABCA1c.2487G>A (p.Leu829=)
n.660G>A
c.2307G>A (p.Leu769=)
c.2562G>A (p.Leu854=)
c.2124G>A (p.Leu708=)
c.2424G>A (p.Leu808=)
n.2875G>A
9g.104825739A>CCA374321061ABCA1c.2486T>G (p.Leu829Arg)
n.659T>G
c.2306T>G (p.Leu769Arg)
c.2561T>G (p.Leu854Arg)
c.2123T>G (p.Leu708Arg)
c.2423T>G (p.Leu808Arg)
n.2874T>G
9g.104825739A>GCA374321063ABCA1c.2486T>C (p.Leu829Pro)
n.659T>C
c.2306T>C (p.Leu769Pro)
c.2561T>C (p.Leu854Pro)
c.2123T>C (p.Leu708Pro)
c.2423T>C (p.Leu808Pro)
n.2874T>C
gnomAD v4
9g.104825739A>TCA374321065ABCA1c.2486T>A (p.Leu829Gln)
n.659T>A
c.2306T>A (p.Leu769Gln)
c.2561T>A (p.Leu854Gln)
c.2123T>A (p.Leu708Gln)
c.2423T>A (p.Leu808Gln)
n.2874T>A
9g.104825740G>ACA466506891ABCA1c.2485C>T (p.Leu829=)
n.658C>T
c.2305C>T (p.Leu769=)
c.2560C>T (p.Leu854=)
c.2122C>T (p.Leu708=)
c.2422C>T (p.Leu808=)
n.2873C>T
gnomAD v4
9g.104825740G>CCA374321071ABCA1c.2485C>G (p.Leu829Val)
n.658C>G
c.2305C>G (p.Leu769Val)
c.2560C>G (p.Leu854Val)
c.2122C>G (p.Leu708Val)
c.2422C>G (p.Leu808Val)
n.2873C>G
dbSNP gnomAD v2 gnomAD v4
9g.104825740G=CA1869915022ABCA1c.2485C= (p.Leu829=)
n.658C=
c.2305C= (p.Leu769=)
c.2560C= (p.Leu854=)
c.2122C= (p.Leu708=)
c.2422C= (p.Leu808=)
n.2873C=
9g.104825740G>TCA374321066ABCA1c.2485C>A (p.Leu829Met)
n.658C>A
c.2305C>A (p.Leu769Met)
c.2560C>A (p.Leu854Met)
c.2122C>A (p.Leu708Met)
c.2422C>A (p.Leu808Met)
n.2873C>A
9g.104825741C>ACA374321073ABCA1c.2484G>T (p.Met828Ile)
n.657G>T
c.2304G>T (p.Met768Ile)
c.2559G>T (p.Met853Ile)
c.2121G>T (p.Met707Ile)
c.2421G>T (p.Met807Ile)
n.2872G>T
9g.104825741C>GCA374321076ABCA1c.2484G>C (p.Met828Ile)
n.657G>C
c.2304G>C (p.Met768Ile)
c.2559G>C (p.Met853Ile)
c.2121G>C (p.Met707Ile)
c.2421G>C (p.Met807Ile)
n.2872G>C
9g.104825741C>TCA374321075ABCA1c.2484G>A (p.Met828Ile)
n.657G>A
c.2304G>A (p.Met768Ile)
c.2559G>A (p.Met853Ile)
c.2121G>A (p.Met707Ile)
c.2421G>A (p.Met807Ile)
n.2872G>A
9g.104825742A>CCA374321078ABCA1c.2483T>G (p.Met828Arg)
n.656T>G
c.2303T>G (p.Met768Arg)
c.2558T>G (p.Met853Arg)
c.2120T>G (p.Met707Arg)
c.2420T>G (p.Met807Arg)
n.2871T>G
9g.104825742A>GCA374321080ABCA1c.2483T>C (p.Met828Thr)
n.656T>C
c.2303T>C (p.Met768Thr)
c.2558T>C (p.Met853Thr)
c.2120T>C (p.Met707Thr)
c.2420T>C (p.Met807Thr)
n.2871T>C
9g.104825742A>TCA374321081ABCA1c.2483T>A (p.Met828Lys)
n.656T>A
c.2303T>A (p.Met768Lys)
c.2558T>A (p.Met853Lys)
c.2120T>A (p.Met707Lys)
c.2420T>A (p.Met807Lys)
n.2871T>A
9g.104825743T>ACA374321082ABCA1c.2482A>T (p.Met828Leu)
n.655A>T
c.2302A>T (p.Met768Leu)
c.2557A>T (p.Met853Leu)
c.2119A>T (p.Met707Leu)
c.2419A>T (p.Met807Leu)
n.2870A>T
9g.104825743T>CCA5168721ABCA1c.2482A>G (p.Met828Val)
n.655A>G
c.2302A>G (p.Met768Val)
c.2557A>G (p.Met853Val)
c.2119A>G (p.Met707Val)
c.2419A>G (p.Met807Val)
n.2870A>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825743T>GCA374321084ABCA1c.2482A>C (p.Met828Leu)
n.655A>C
c.2302A>C (p.Met768Leu)
c.2557A>C (p.Met853Leu)
c.2119A>C (p.Met707Leu)
c.2419A>C (p.Met807Leu)
n.2870A>C
9g.104825743T=CA1869915026ABCA1c.2482A= (p.Met828=)
n.655A=
c.2302A= (p.Met768=)
c.2557A= (p.Met853=)
c.2119A= (p.Met707=)
c.2419A= (p.Met807=)
n.2870A=
9g.104825744C>ACA374321085ABCA1c.2481G>T (p.Met827Ile)
n.654G>T
c.2301G>T (p.Met767Ile)
c.2556G>T (p.Met852Ile)
c.2118G>T (p.Met706Ile)
c.2418G>T (p.Met806Ile)
n.2869G>T
9g.104825744C>GCA374321086ABCA1c.2481G>C (p.Met827Ile)
n.654G>C
c.2301G>C (p.Met767Ile)
c.2556G>C (p.Met852Ile)
c.2118G>C (p.Met706Ile)
c.2418G>C (p.Met806Ile)
n.2869G>C
9g.104825744C>TCA374321087ABCA1c.2481G>A (p.Met827Ile)
n.654G>A
c.2301G>A (p.Met767Ile)
c.2556G>A (p.Met852Ile)
c.2118G>A (p.Met706Ile)
c.2418G>A (p.Met806Ile)
n.2869G>A
gnomAD v4
9g.104825745A>CCA374321088ABCA1c.2480T>G (p.Met827Arg)
n.653T>G
c.2300T>G (p.Met767Arg)
c.2555T>G (p.Met852Arg)
c.2117T>G (p.Met706Arg)
c.2417T>G (p.Met806Arg)
n.2868T>G
9g.104825745A>GCA374321089ABCA1c.2480T>C (p.Met827Thr)
n.653T>C
c.2300T>C (p.Met767Thr)
c.2555T>C (p.Met852Thr)
c.2117T>C (p.Met706Thr)
c.2417T>C (p.Met806Thr)
n.2868T>C
COSMIC
9g.104825745A>TCA374321091ABCA1c.2480T>A (p.Met827Lys)
n.653T>A
c.2300T>A (p.Met767Lys)
c.2555T>A (p.Met852Lys)
c.2117T>A (p.Met706Lys)
c.2417T>A (p.Met806Lys)
n.2868T>A
9g.104825746T>ACA374321097ABCA1c.2479A>T (p.Met827Leu)
n.652A>T
c.2299A>T (p.Met767Leu)
c.2554A>T (p.Met852Leu)
c.2116A>T (p.Met706Leu)
c.2416A>T (p.Met806Leu)
n.2867A>T
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104825746T>CCA374321093ABCA1c.2479A>G (p.Met827Val)
n.652A>G
c.2299A>G (p.Met767Val)
c.2554A>G (p.Met852Val)
c.2116A>G (p.Met706Val)
c.2416A>G (p.Met806Val)
n.2867A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104825746T>GCA374321095ABCA1c.2479A>C (p.Met827Leu)
n.652A>C
c.2299A>C (p.Met767Leu)
c.2554A>C (p.Met852Leu)
c.2116A>C (p.Met706Leu)
c.2416A>C (p.Met806Leu)
n.2867A>C
gnomAD v4
9g.104825746T=CA1869915028ABCA1c.2479A= (p.Met827=)
n.652A=
c.2299A= (p.Met767=)
c.2554A= (p.Met852=)
c.2116A= (p.Met706=)
c.2416A= (p.Met806=)
n.2867A=
9g.104825747G>ACA466506892ABCA1c.2478C>T (p.Ser826=)
n.651C>T
c.2298C>T (p.Ser766=)
c.2553C>T (p.Ser851=)
c.2115C>T (p.Ser705=)
c.2415C>T (p.Ser805=)
n.2866C>T
ClinVar gnomAD v4
9g.104825747G>CCA466506894ABCA1c.2478C>G (p.Ser826=)
n.651C>G
c.2298C>G (p.Ser766=)
c.2553C>G (p.Ser851=)
c.2115C>G (p.Ser705=)
c.2415C>G (p.Ser805=)
n.2866C>G
9g.104825747G>TCA466506893ABCA1c.2478C>A (p.Ser826=)
n.651C>A
c.2298C>A (p.Ser766=)
c.2553C>A (p.Ser851=)
c.2115C>A (p.Ser705=)
c.2415C>A (p.Ser805=)
n.2866C>A
9g.104825748G>ACA374321099ABCA1c.2477C>T (p.Ser826Phe)
n.650C>T
c.2297C>T (p.Ser766Phe)
c.2552C>T (p.Ser851Phe)
c.2114C>T (p.Ser705Phe)
c.2414C>T (p.Ser805Phe)
n.2865C>T
9g.104825748G>CCA5168722ABCA1c.2477C>G (p.Ser826Cys)
n.650C>G
c.2297C>G (p.Ser766Cys)
c.2552C>G (p.Ser851Cys)
c.2114C>G (p.Ser705Cys)
c.2414C>G (p.Ser805Cys)
n.2865C>G
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825748G=CA1869915030ABCA1c.2477C= (p.Ser826=)
n.650C=
c.2297C= (p.Ser766=)
c.2552C= (p.Ser851=)
c.2114C= (p.Ser705=)
c.2414C= (p.Ser805=)
n.2865C=
9g.104825748G>TCA374321102ABCA1c.2477C>A (p.Ser826Tyr)
n.650C>A
c.2297C>A (p.Ser766Tyr)
c.2552C>A (p.Ser851Tyr)
c.2114C>A (p.Ser705Tyr)
c.2414C>A (p.Ser805Tyr)
n.2865C>A
9g.104825749A>CCA374321104ABCA1c.2476T>G (p.Ser826Ala)
n.649T>G
c.2296T>G (p.Ser766Ala)
c.2551T>G (p.Ser851Ala)
c.2113T>G (p.Ser705Ala)
c.2413T>G (p.Ser805Ala)
n.2864T>G
9g.104825749A>GCA374321105ABCA1c.2476T>C (p.Ser826Pro)
n.649T>C
c.2296T>C (p.Ser766Pro)
c.2551T>C (p.Ser851Pro)
c.2113T>C (p.Ser705Pro)
c.2413T>C (p.Ser805Pro)
n.2864T>C
9g.104825749A>TCA374321107ABCA1c.2476T>A (p.Ser826Thr)
n.649T>A
c.2296T>A (p.Ser766Thr)
c.2551T>A (p.Ser851Thr)
c.2113T>A (p.Ser705Thr)
c.2413T>A (p.Ser805Thr)
n.2864T>A
9g.104825750G>ACA466506895ABCA1c.2475C>T (p.Val825=)
n.648C>T
c.2295C>T (p.Val765=)
c.2550C>T (p.Val850=)
c.2112C>T (p.Val704=)
c.2412C>T (p.Val804=)
n.2863C>T
9g.104825750G>CCA466506896ABCA1c.2475C>G (p.Val825=)
n.648C>G
c.2295C>G (p.Val765=)
c.2550C>G (p.Val850=)
c.2112C>G (p.Val704=)
c.2412C>G (p.Val804=)
n.2863C>G
9g.104825750G>TCA466506897ABCA1c.2475C>A (p.Val825=)
n.648C>A
c.2295C>A (p.Val765=)
c.2550C>A (p.Val850=)
c.2112C>A (p.Val704=)
c.2412C>A (p.Val804=)
n.2863C>A
9g.104825751A>CCA374321109ABCA1c.2474T>G (p.Val825Gly)
n.647T>G
c.2294T>G (p.Val765Gly)
c.2549T>G (p.Val850Gly)
c.2111T>G (p.Val704Gly)
c.2411T>G (p.Val804Gly)
n.2862T>G
9g.104825751A>GCA374321110ABCA1c.2474T>C (p.Val825Ala)
n.647T>C
c.2294T>C (p.Val765Ala)
c.2549T>C (p.Val850Ala)
c.2111T>C (p.Val704Ala)
c.2411T>C (p.Val804Ala)
n.2862T>C
9g.104825751A>TCA374321112ABCA1c.2474T>A (p.Val825Asp)
n.647T>A
c.2294T>A (p.Val765Asp)
c.2549T>A (p.Val850Asp)
c.2111T>A (p.Val704Asp)
c.2411T>A (p.Val804Asp)
n.2862T>A
9g.104825752C>ACA374321114ABCA1c.2473G>T (p.Val825Phe)
n.646G>T
c.2293G>T (p.Val765Phe)
c.2548G>T (p.Val850Phe)
c.2110G>T (p.Val704Phe)
c.2410G>T (p.Val804Phe)
n.2861G>T
9g.104825752C=CA1869915036ABCA1c.2473G= (p.Val825=)
n.646G=
c.2293G= (p.Val765=)
c.2548G= (p.Val850=)
c.2110G= (p.Val704=)
c.2410G= (p.Val804=)
n.2861G=
9g.104825752C>GCA374321116ABCA1c.2473G>C (p.Val825Leu)
n.646G>C
c.2293G>C (p.Val765Leu)
c.2548G>C (p.Val850Leu)
c.2110G>C (p.Val704Leu)
c.2410G>C (p.Val804Leu)
n.2861G>C
9g.104825752C>TCA5168723ABCA1c.2473G>A (p.Val825Ile)
n.646G>A
c.2293G>A (p.Val765Ile)
c.2548G>A (p.Val850Ile)
c.2110G>A (p.Val704Ile)
c.2410G>A (p.Val804Ile)
n.2861G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104825753C>ACA466506898ABCA1c.2472G>T (p.Ser824=)
n.645G>T
c.2292G>T (p.Ser764=)
c.2547G>T (p.Ser849=)
c.2109G>T (p.Ser703=)
c.2409G>T (p.Ser803=)
n.2860G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104825753C=CA1869915046ABCA1c.2472G= (p.Ser824=)
n.645G=
c.2292G= (p.Ser764=)
c.2547G= (p.Ser849=)
c.2109G= (p.Ser703=)
c.2409G= (p.Ser803=)
n.2860G=
9g.104825753C>GCA5168725ABCA1c.2472G>C (p.Ser824=)
n.645G>C
c.2292G>C (p.Ser764=)
c.2547G>C (p.Ser849=)
c.2109G>C (p.Ser703=)
c.2409G>C (p.Ser803=)
n.2860G>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.104825753C>TCA5168724ABCA1c.2472G>A (p.Ser824=)
n.645G>A
c.2292G>A (p.Ser764=)
c.2547G>A (p.Ser849=)
c.2109G>A (p.Ser703=)
c.2409G>A (p.Ser803=)
n.2860G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104825754G>ACA5168726ABCA1c.2471C>T (p.Ser824Leu)
n.644C>T
c.2291C>T (p.Ser764Leu)
c.2546C>T (p.Ser849Leu)
c.2108C>T (p.Ser703Leu)
c.2408C>T (p.Ser803Leu)
n.2859C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.104825754G>CCA374321120ABCA1c.2471C>G (p.Ser824Trp)
n.644C>G
c.2291C>G (p.Ser764Trp)
c.2546C>G (p.Ser849Trp)
c.2108C>G (p.Ser703Trp)
c.2408C>G (p.Ser803Trp)
n.2859C>G
9g.104825754G=CA1869915050ABCA1c.2471C= (p.Ser824=)
n.644C=
c.2291C= (p.Ser764=)
c.2546C= (p.Ser849=)
c.2108C= (p.Ser703=)
c.2408C= (p.Ser803=)
n.2859C=
9g.104825754G>TCA374321121ABCA1c.2471C>A (p.Ser824Ter)
n.644C>A
c.2291C>A (p.Ser764Ter)
c.2546C>A (p.Ser849Ter)
c.2108C>A (p.Ser703Ter)
c.2408C>A (p.Ser803Ter)
n.2859C>A
9g.104825755A>CCA374321124ABCA1c.2470T>G (p.Ser824Ala)
n.643T>G
c.2290T>G (p.Ser764Ala)
c.2545T>G (p.Ser849Ala)
c.2107T>G (p.Ser703Ala)
c.2407T>G (p.Ser803Ala)
n.2858T>G
9g.104825755A>GCA374321125ABCA1c.2470T>C (p.Ser824Pro)
n.643T>C
c.2290T>C (p.Ser764Pro)
c.2545T>C (p.Ser849Pro)
c.2107T>C (p.Ser703Pro)
c.2407T>C (p.Ser803Pro)
n.2858T>C
9g.104825755A>TCA374321126ABCA1c.2470T>A (p.Ser824Thr)
n.643T>A
c.2290T>A (p.Ser764Thr)
c.2545T>A (p.Ser849Thr)
c.2107T>A (p.Ser703Thr)
c.2407T>A (p.Ser803Thr)
n.2858T>A
9g.104825756A>CCA466506901ABCA1c.2469T>G (p.Thr823=)
n.642T>G
c.2289T>G (p.Thr763=)
c.2544T>G (p.Thr848=)
c.2106T>G (p.Thr702=)
c.2406T>G (p.Thr802=)
n.2857T>G
9g.104825756A>GCA466506900ABCA1c.2469T>C (p.Thr823=)
n.642T>C
c.2289T>C (p.Thr763=)
c.2544T>C (p.Thr848=)
c.2106T>C (p.Thr702=)
c.2406T>C (p.Thr802=)
n.2857T>C
gnomAD v4
9g.104825756A>TCA466506899ABCA1c.2469T>A (p.Thr823=)
n.642T>A
c.2289T>A (p.Thr763=)
c.2544T>A (p.Thr848=)
c.2106T>A (p.Thr702=)
c.2406T>A (p.Thr802=)
n.2857T>A

Number of alleles fetched