Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104825656T>C | CA589839687 | ABCA1 | c.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 |
9 | g.104825656T= | CA1869914900 | ABCA1 | c.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= | |
9 | g.104825657C= | CA1869914902 | ABCA1 | c.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= | |
9 | g.104825657C>T | CA589839689 | ABCA1 | c.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 |
9 | g.104825658C= | CA1869914905 | ABCA1 | c.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= | |
9 | g.104825658C>T | CA589839691 | ABCA1 | c.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 |
9 | g.104825661A>C | CA2691055766 | ABCA1 | c.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 |
9 | g.104825662C= | CA1869914907 | ABCA1 | c.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= | |
9 | g.104825662C>T | CA858046551 | ABCA1 | c.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 |
9 | g.104825663A= | CA1869914911 | ABCA1 | c.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= | |
9 | g.104825663A>C | CA589839693 | ABCA1 | c.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 |
9 | g.104825664G>A | CA1869914915 | ABCA1 | c.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 |
9 | g.104825664G= | CA1869914914 | ABCA1 | c.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= | |
9 | g.104825664G>T | CA5168707 | ABCA1 | c.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 |
9 | g.104825665A= | CA1869914916 | ABCA1 | c.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= | |
9 | g.104825665A>T | CA1127660614 | ABCA1 | c.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 |
9 | g.104825666T>C | CA2691055767 | ABCA1 | c.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 |
9 | g.104825667G>A | CA197392804 | ABCA1 | c.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 |
9 | g.104825667G= | CA1869914918 | ABCA1 | c.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= | |
9 | g.104825668C>T | CA2691055768 | ABCA1 | c.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 |
9 | g.104825669C= | CA1869914920 | ABCA1 | c.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= | |
9 | g.104825669C>T | CA589839696 | ABCA1 | c.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 |
9 | g.104825670C= | CA1869914922 | ABCA1 | c.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= | |
9 | g.104825670C>T | CA197392808 | ABCA1 | c.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 |
9 | g.104825677G>C | CA589839697 | ABCA1 | c.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 |
9 | g.104825677G= | CA1869914924 | ABCA1 | c.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= | |
9 | g.104825678T>C | CA5168708 | ABCA1 | c.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 |
9 | g.104825678T= | CA1869914926 | ABCA1 | c.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= | |
9 | g.104825679G>A | CA2691055769 | ABCA1 | c.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 |
9 | g.104825681A>C | CA374320842 | ABCA1 | c.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 | |
9 | g.104825681A>G | CA374320844 | ABCA1 | c.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 | |
9 | g.104825681A>T | CA374320845 | ABCA1 | c.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 | |
9 | g.104825682C>A | CA374320848 | ABCA1 | c.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 | |
9 | g.104825682C>G | CA374320849 | ABCA1 | c.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 | |
9 | g.104825682C>T | CA374320851 | ABCA1 | c.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 | |
9 | g.104825683C>A | CA374320853 | ABCA1 | c.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 |
9 | g.104825683C>G | CA374320854 | ABCA1 | c.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 |
9 | g.104825683C>T | CA374320855 | ABCA1 | c.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 | |
9 | g.104825684T>A | CA466506857 | ABCA1 | c.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 | |
9 | g.104825684T>C | CA466506859 | ABCA1 | c.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 | |
9 | g.104825684T>G | CA466506858 | ABCA1 | c.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 |
9 | g.104825684T= | CA1869914929 | ABCA1 | c.2541A= (p.Pro847=) n.714A= c.2361A= (p.Pro787=) c.2616A= (p.Pro872=) c.2178A= (p.Pro726=) c.2478A= (p.Pro826=) n.2929A= | |
9 | g.104825685G>A | CA374320860 | ABCA1 | c.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 |
9 | g.104825685G>C | CA374320859 | ABCA1 | c.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 | |
9 | g.104825685G>T | CA374320857 | ABCA1 | c.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 | |
9 | g.104825686G>A | CA374320862 | ABCA1 | c.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 |
9 | g.104825686G>C | CA374320865 | ABCA1 | c.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 | |
9 | g.104825686G>T | CA374320864 | ABCA1 | c.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 | |
9 | g.104825687A= | CA1869914931 | ABCA1 | c.2538T= (p.Phe846=) n.711T= c.2358T= (p.Phe786=) c.2613T= (p.Phe871=) c.2175T= (p.Phe725=) c.2475T= (p.Phe825=) n.2926T= | |
9 | g.104825687A>C | CA374320868 | ABCA1 | c.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 | |
9 | g.104825687A>G | CA466506860 | ABCA1 | c.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 |
9 | g.104825687A>T | CA374320869 | ABCA1 | c.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 | |
9 | g.104825688A>C | CA374320871 | ABCA1 | c.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 | |
9 | g.104825688A>G | CA374320874 | ABCA1 | c.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 | |
9 | g.104825688A>T | CA374320873 | ABCA1 | c.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 | |
9 | g.104825689A>C | CA374320875 | ABCA1 | c.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 | |
9 | g.104825689A>G | CA374320878 | ABCA1 | c.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 | |
9 | g.104825689A>T | CA374320877 | ABCA1 | c.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 | |
9 | g.104825690G>A | CA466506861 | ABCA1 | c.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 | |
9 | g.104825690G>C | CA466506862 | ABCA1 | c.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 | |
9 | g.104825690G>T | CA466506863 | ABCA1 | c.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 | |
9 | g.104825691A= | CA1869914934 | ABCA1 | c.2534T= (p.Val845=) n.707T= c.2354T= (p.Val785=) c.2609T= (p.Val870=) c.2171T= (p.Val724=) c.2471T= (p.Val824=) n.2922T= | |
9 | g.104825691A>C | CA374320880 | ABCA1 | c.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 | |
9 | g.104825691A>G | CA5168709 | ABCA1 | c.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 |
9 | g.104825691A>T | CA374320882 | ABCA1 | c.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 | |
9 | g.104825692C>A | CA374320885 | ABCA1 | c.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 | |
9 | g.104825692C>G | CA374320888 | ABCA1 | c.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 | |
9 | g.104825692C>T | CA374320886 | ABCA1 | c.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 |
9 | g.104825693A= | CA1869914939 | ABCA1 | c.2532T= (p.Ala844=) n.705T= c.2352T= (p.Ala784=) c.2607T= (p.Ala869=) c.2169T= (p.Ala723=) c.2469T= (p.Ala823=) n.2920T= | |
9 | g.104825693A>C | CA5168710 | ABCA1 | c.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 |
9 | g.104825693A>G | CA466506865 | ABCA1 | c.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 |
9 | g.104825693A>T | CA466506864 | ABCA1 | c.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 | |
9 | g.104825694G>A | CA374320891 | ABCA1 | c.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 | |
9 | g.104825694G>C | CA374320893 | ABCA1 | c.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 |
9 | g.104825694G= | CA1869914942 | ABCA1 | c.2531C= (p.Ala844=) n.704C= c.2351C= (p.Ala784=) c.2606C= (p.Ala869=) c.2168C= (p.Ala723=) c.2468C= (p.Ala823=) n.2919C= | |
9 | g.104825694G>T | CA374320894 | ABCA1 | c.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 | |
9 | g.104825695C>A | CA5168711 | ABCA1 | c.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 |
9 | g.104825695C= | CA1869914945 | ABCA1 | c.2530G= (p.Ala844=) n.703G= c.2350G= (p.Ala784=) c.2605G= (p.Ala869=) c.2167G= (p.Ala723=) c.2467G= (p.Ala823=) n.2918G= | |
9 | g.104825695C>G | CA374320896 | ABCA1 | c.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 | |
9 | g.104825695C>T | CA374320897 | ABCA1 | c.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 | |
9 | g.104825696C>A | CA374320899 | ABCA1 | c.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 | |
9 | g.104825696C= | CA1869914948 | ABCA1 | c.2529G= (p.Glu843=) n.702G= c.2349G= (p.Glu783=) c.2604G= (p.Glu868=) c.2166G= (p.Glu722=) c.2466G= (p.Glu822=) n.2917G= | |
9 | g.104825696C>G | CA374320901 | ABCA1 | c.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 | |
9 | g.104825696C>T | CA466506866 | ABCA1 | c.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 |
9 | g.104825697T>A | CA374320907 | ABCA1 | c.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 | |
9 | g.104825697T>C | CA374320905 | ABCA1 | c.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 | |
9 | g.104825697T>G | CA374320903 | ABCA1 | c.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 | |
9 | g.104825698C>A | CA374320908 | ABCA1 | c.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 | |
9 | g.104825698C>G | CA374320909 | ABCA1 | c.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 | |
9 | g.104825698C>T | CA374320911 | ABCA1 | c.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 | |
9 | g.104825699A>C | CA374320913 | ABCA1 | c.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 | |
9 | g.104825699A>G | CA466506867 | ABCA1 | c.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 | |
9 | g.104825699A>T | CA466506868 | ABCA1 | c.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 | |
9 | g.104825700A>C | CA374320915 | ABCA1 | c.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 | |
9 | g.104825700A>G | CA374320916 | ABCA1 | c.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 |
9 | g.104825700A>T | CA374320918 | ABCA1 | c.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 | |
9 | g.104825701T>A | CA374320920 | ABCA1 | c.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 | |
9 | g.104825701T>C | CA374320921 | ABCA1 | c.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 |
9 | g.104825701T>G | CA374320923 | ABCA1 | c.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 |
9 | g.104825701T= | CA1869914952 | ABCA1 | c.2524A= (p.Ile842=) n.697A= c.2344A= (p.Ile782=) c.2599A= (p.Ile867=) c.2161A= (p.Ile721=) c.2461A= (p.Ile821=) n.2912A= | |
9 | g.104825702G>A | CA197392831 | ABCA1 | c.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 |
9 | g.104825702G>C | CA374320928 | ABCA1 | c.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 | |
9 | g.104825702G= | CA1869914956 | ABCA1 | c.2523C= (p.Tyr841=) n.696C= c.2343C= (p.Tyr781=) c.2598C= (p.Tyr866=) c.2160C= (p.Tyr720=) c.2460C= (p.Tyr820=) n.2911C= | |
9 | g.104825702G>T | CA374320925 | ABCA1 | c.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 | |
9 | g.104825703T>A | CA374320930 | ABCA1 | c.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 | |
9 | g.104825703T>C | CA5168712 | ABCA1 | c.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 |
9 | g.104825703T>G | CA374320932 | ABCA1 | c.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 | |
9 | g.104825703T= | CA1869914959 | ABCA1 | c.2522A= (p.Tyr841=) n.695A= c.2342A= (p.Tyr781=) c.2597A= (p.Tyr866=) c.2159A= (p.Tyr720=) c.2459A= (p.Tyr820=) n.2910A= | |
9 | g.104825704A= | CA1869914961 | ABCA1 | c.2521T= (p.Tyr841=) n.694T= c.2341T= (p.Tyr781=) c.2596T= (p.Tyr866=) c.2158T= (p.Tyr720=) c.2458T= (p.Tyr820=) n.2909T= | |
9 | g.104825704A>C | CA374320934 | ABCA1 | c.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 |
9 | g.104825704A>G | CA5168713 | ABCA1 | c.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 |
9 | g.104825704A>T | CA374320936 | ABCA1 | c.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 | |
9 | g.104825705C>A | CA374320938 | ABCA1 | c.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 | |
9 | g.104825705C>G | CA374320940 | ABCA1 | c.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 | |
9 | g.104825705C>T | CA374320941 | ABCA1 | c.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 | |
9 | g.104825706C>A | CA197392832 | ABCA1 | c.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 |
9 | g.104825706C= | CA1869914964 | ABCA1 | c.2519G= (p.Trp840=) n.692G= c.2339G= (p.Trp780=) c.2594G= (p.Trp865=) c.2156G= (p.Trp719=) c.2456G= (p.Trp819=) n.2907G= | |
9 | g.104825706C>G | CA374320944 | ABCA1 | c.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 | |
9 | g.104825706C>T | CA374320945 | ABCA1 | c.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 | |
9 | g.104825707A= | CA1869914968 | ABCA1 | c.2518T= (p.Trp840=) n.691T= c.2338T= (p.Trp780=) c.2593T= (p.Trp865=) c.2155T= (p.Trp719=) c.2455T= (p.Trp819=) n.2906T= | |
9 | g.104825707A>C | CA374320949 | ABCA1 | c.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 | |
9 | g.104825707A>G | CA374320947 | ABCA1 | c.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 |
9 | g.104825707A>T | CA374320948 | ABCA1 | c.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 | |
9 | g.104825708G>A | CA466506869 | ABCA1 | c.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 | |
9 | g.104825708G>C | CA466506870 | ABCA1 | c.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 | |
9 | g.104825708G>T | CA466506871 | ABCA1 | c.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 | |
9 | g.104825709G>A | CA374320950 | ABCA1 | c.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 | |
9 | g.104825709G>C | CA374320952 | ABCA1 | c.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 |
9 | g.104825709G>T | CA374320953 | ABCA1 | c.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 | |
9 | g.104825710T>A | CA374320955 | ABCA1 | c.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 | |
9 | g.104825710T>C | CA197392834 | ABCA1 | c.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 |
9 | g.104825710T>G | CA374320958 | ABCA1 | c.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 | |
9 | g.104825710T= | CA1869914974 | ABCA1 | c.2515A= (p.Thr839=) n.688A= c.2335A= (p.Thr779=) c.2590A= (p.Thr864=) c.2152A= (p.Thr718=) c.2452A= (p.Thr818=) n.2903A= | |
9 | g.104825711C>A | CA374320960 | ABCA1 | c.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 | |
9 | g.104825711C>G | CA374320961 | ABCA1 | c.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 | |
9 | g.104825711C>T | CA374320963 | ABCA1 | c.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 |
9 | g.104825712A>C | CA374320965 | ABCA1 | c.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 | |
9 | g.104825712A>G | CA374320967 | ABCA1 | c.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 | |
9 | g.104825712A>T | CA374320968 | ABCA1 | c.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 | |
9 | g.104825713T>A | CA374320971 | ABCA1 | c.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 | |
9 | g.104825713T>C | CA5168714 | ABCA1 | c.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 |
9 | g.104825713T>G | CA374320970 | ABCA1 | c.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 | |
9 | g.104825713T= | CA1869914980 | ABCA1 | c.2512A= (p.Met838=) n.685A= c.2332A= (p.Met778=) c.2587A= (p.Met863=) c.2149A= (p.Met717=) c.2449A= (p.Met817=) n.2900A= | |
9 | g.104825714C>A | CA466506873 | ABCA1 | c.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 | |
9 | g.104825714C>G | CA466506874 | ABCA1 | c.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 | |
9 | g.104825714C>T | CA466506872 | ABCA1 | c.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 | |
9 | g.104825715_104825716del | CA2509167205 | ABCA1 | c.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 | |
9 | g.104825715A>C | CA374320975 | ABCA1 | c.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 | |
9 | g.104825715A>G | CA374320973 | ABCA1 | c.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 | |
9 | g.104825715A>T | CA374320974 | ABCA1 | c.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 | |
9 | g.104825716C>A | CA5168715 | ABCA1 | c.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 |
9 | g.104825716C= | CA1869914982 | ABCA1 | c.2509G= (p.Val837=) n.682G= c.2329G= (p.Val777=) c.2584G= (p.Val862=) c.2146G= (p.Val716=) c.2446G= (p.Val816=) n.2897G= | |
9 | g.104825716C>G | CA374320978 | ABCA1 | c.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 | |
9 | g.104825716C>T | CA374320979 | ABCA1 | c.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 |
9 | g.104825717C>A | CA466506875 | ABCA1 | c.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 | |
9 | g.104825717C>G | CA466506876 | ABCA1 | c.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 | |
9 | g.104825717C>T | CA466506877 | ABCA1 | c.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 | |
9 | g.104825718C>A | CA374320980 | ABCA1 | c.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 | |
9 | g.104825718C>G | CA374320984 | ABCA1 | c.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 | |
9 | g.104825718C>T | CA374320985 | ABCA1 | c.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 | |
9 | g.104825719C>A | CA374320987 | ABCA1 | c.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 | |
9 | g.104825719C= | CA1869914985 | ABCA1 | c.2506G= (p.Gly836=) n.679G= c.2326G= (p.Gly776=) c.2581G= (p.Gly861=) c.2143G= (p.Gly715=) c.2443G= (p.Gly815=) n.2894G= | |
9 | g.104825719C>G | CA374320988 | ABCA1 | c.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 | |
9 | g.104825719C>T | CA374320989 | ABCA1 | c.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 |
9 | g.104825720A>C | CA374320991 | ABCA1 | c.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 |
9 | g.104825720A>G | CA466506878 | ABCA1 | c.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 | |
9 | g.104825720A>T | CA374320992 | ABCA1 | c.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 | |
9 | g.104825721T>A | CA374320998 | ABCA1 | c.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 | |
9 | g.104825721T>C | CA374320994 | ABCA1 | c.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 |
9 | g.104825721T>G | CA374320996 | ABCA1 | c.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 |
9 | g.104825721T= | CA1869914988 | ABCA1 | c.2504A= (p.Tyr835=) n.677A= c.2324A= (p.Tyr775=) c.2579A= (p.Tyr860=) c.2141A= (p.Tyr714=) c.2441A= (p.Tyr814=) n.2892A= | |
9 | g.104825722A= | CA1869914992 | ABCA1 | c.2503T= (p.Tyr835=) n.676T= c.2323T= (p.Tyr775=) c.2578T= (p.Tyr860=) c.2140T= (p.Tyr714=) c.2440T= (p.Tyr814=) n.2891T= | |
9 | g.104825722A>C | CA374320999 | ABCA1 | c.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 | |
9 | g.104825722A>G | CA5168716 | ABCA1 | c.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 |
9 | g.104825722A>T | CA374321001 | ABCA1 | c.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 | |
9 | g.104825723G>A | CA466506879 | ABCA1 | c.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 |
9 | g.104825723G>C | CA466506880 | ABCA1 | c.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 |
9 | g.104825723G= | CA1869914994 | ABCA1 | c.2502C= (p.Leu834=) n.675C= c.2322C= (p.Leu774=) c.2577C= (p.Leu859=) c.2139C= (p.Leu713=) c.2439C= (p.Leu813=) n.2890C= | |
9 | g.104825723G>T | CA466506881 | ABCA1 | c.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 | |
9 | g.104825724A>C | CA374321002 | ABCA1 | c.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 | |
9 | g.104825724A>G | CA374321003 | ABCA1 | c.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 |
9 | g.104825724A>T | CA374321005 | ABCA1 | c.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 | |
9 | g.104825725G>A | CA5168717 | ABCA1 | c.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 |
9 | g.104825725G>C | CA374321008 | ABCA1 | c.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 | |
9 | g.104825725G= | CA1869914996 | ABCA1 | c.2500C= (p.Leu834=) n.673C= c.2320C= (p.Leu774=) c.2575C= (p.Leu859=) c.2137C= (p.Leu713=) c.2437C= (p.Leu813=) n.2888C= | |
9 | g.104825725G>T | CA374321010 | ABCA1 | c.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 | |
9 | g.104825726G>A | CA466506882 | ABCA1 | c.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 |
9 | g.104825726G>C | CA374321012 | ABCA1 | c.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 | |
9 | g.104825726G= | CA1869915000 | ABCA1 | c.2499C= (p.Phe833=) n.672C= c.2319C= (p.Phe773=) c.2574C= (p.Phe858=) c.2136C= (p.Phe712=) c.2436C= (p.Phe812=) n.2887C= | |
9 | g.104825726G>T | CA374321013 | ABCA1 | c.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 | |
9 | g.104825727A>C | CA374321019 | ABCA1 | c.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 | |
9 | g.104825727A>G | CA374321017 | ABCA1 | c.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 | |
9 | g.104825727A>T | CA374321016 | ABCA1 | c.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 | |
9 | g.104825728A= | CA1869915003 | ABCA1 | c.2497T= (p.Phe833=) n.670T= c.2317T= (p.Phe773=) c.2572T= (p.Phe858=) c.2134T= (p.Phe712=) c.2434T= (p.Phe812=) n.2885T= | |
9 | g.104825728A>C | CA197392857 | ABCA1 | c.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 |
9 | g.104825728A>G | CA374321021 | ABCA1 | c.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 | |
9 | g.104825728A>T | CA374321023 | ABCA1 | c.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 | |
9 | g.104825729G>A | CA466506883 | ABCA1 | c.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 |
9 | g.104825729G>C | CA466506884 | ABCA1 | c.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 | |
9 | g.104825729G= | CA1869915007 | ABCA1 | c.2496C= (p.Thr832=) n.669C= c.2316C= (p.Thr772=) c.2571C= (p.Thr857=) c.2133C= (p.Thr711=) c.2433C= (p.Thr811=) n.2884C= | |
9 | g.104825729G>T | CA466506885 | ABCA1 | c.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 | |
9 | g.104825730G>A | CA374321025 | ABCA1 | c.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 |
9 | g.104825730G>C | CA374321026 | ABCA1 | c.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 | |
9 | g.104825730G= | CA1869915010 | ABCA1 | c.2495C= (p.Thr832=) n.668C= c.2315C= (p.Thr772=) c.2570C= (p.Thr857=) c.2132C= (p.Thr711=) c.2432C= (p.Thr811=) n.2883C= | |
9 | g.104825730G>T | CA5168718 | ABCA1 | c.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 |
9 | g.104825731T>A | CA374321034 | ABCA1 | c.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 | |
9 | g.104825731T>C | CA374321030 | ABCA1 | c.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 | |
9 | g.104825731T>G | CA374321032 | ABCA1 | c.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 |
9 | g.104825732G>A | CA466506886 | ABCA1 | c.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 |
9 | g.104825732G>C | CA374321036 | ABCA1 | c.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 | |
9 | g.104825732G= | CA1869915011 | ABCA1 | c.2493C= (p.Asp831=) n.666C= c.2313C= (p.Asp771=) c.2568C= (p.Asp856=) c.2130C= (p.Asp710=) c.2430C= (p.Asp810=) n.2881C= | |
9 | g.104825732G>T | CA374321038 | ABCA1 | c.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 | |
9 | g.104825733T>A | CA374321041 | ABCA1 | c.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 |
9 | g.104825733T>C | CA374321042 | ABCA1 | c.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 | |
9 | g.104825733T>G | CA374321044 | ABCA1 | c.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 | |
9 | g.104825734C>A | CA374321045 | ABCA1 | c.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 | |
9 | g.104825734C= | CA1869915015 | ABCA1 | c.2491G= (p.Asp831=) n.664G= c.2311G= (p.Asp771=) c.2566G= (p.Asp856=) c.2128G= (p.Asp710=) c.2428G= (p.Asp810=) n.2879G= | |
9 | g.104825734C>G | CA374321047 | ABCA1 | c.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 | |
9 | g.104825734C>T | CA197392867 | ABCA1 | c.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 |
9 | g.104825735A= | CA1869915018 | ABCA1 | c.2490T= (p.Phe830=) n.663T= c.2310T= (p.Phe770=) c.2565T= (p.Phe855=) c.2127T= (p.Phe709=) c.2427T= (p.Phe809=) n.2878T= | |
9 | g.104825735A>C | CA5168719 | ABCA1 | c.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 |
9 | g.104825735A>G | CA466506887 | ABCA1 | c.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 | |
9 | g.104825735A>T | CA5168720 | ABCA1 | c.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 |
9 | g.104825736A>C | CA374321050 | ABCA1 | c.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 | |
9 | g.104825736A>G | CA374321052 | ABCA1 | c.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 | |
9 | g.104825736A>T | CA374321053 | ABCA1 | c.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 | |
9 | g.104825737A>C | CA374321056 | ABCA1 | c.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 | |
9 | g.104825737A>G | CA374321057 | ABCA1 | c.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 | |
9 | g.104825737A>T | CA374321059 | ABCA1 | c.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 | |
9 | g.104825738C>A | CA466506888 | ABCA1 | c.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 | |
9 | g.104825738C>G | CA466506889 | ABCA1 | c.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 | |
9 | g.104825738C>T | CA466506890 | ABCA1 | c.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 | |
9 | g.104825739A>C | CA374321061 | ABCA1 | c.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 | |
9 | g.104825739A>G | CA374321063 | ABCA1 | c.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 |
9 | g.104825739A>T | CA374321065 | ABCA1 | c.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 | |
9 | g.104825740G>A | CA466506891 | ABCA1 | c.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 |
9 | g.104825740G>C | CA374321071 | ABCA1 | c.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 |
9 | g.104825740G= | CA1869915022 | ABCA1 | c.2485C= (p.Leu829=) n.658C= c.2305C= (p.Leu769=) c.2560C= (p.Leu854=) c.2122C= (p.Leu708=) c.2422C= (p.Leu808=) n.2873C= | |
9 | g.104825740G>T | CA374321066 | ABCA1 | c.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 | |
9 | g.104825741C>A | CA374321073 | ABCA1 | c.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 | |
9 | g.104825741C>G | CA374321076 | ABCA1 | c.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 | |
9 | g.104825741C>T | CA374321075 | ABCA1 | c.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 | |
9 | g.104825742A>C | CA374321078 | ABCA1 | c.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 | |
9 | g.104825742A>G | CA374321080 | ABCA1 | c.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 | |
9 | g.104825742A>T | CA374321081 | ABCA1 | c.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 | |
9 | g.104825743T>A | CA374321082 | ABCA1 | c.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 | |
9 | g.104825743T>C | CA5168721 | ABCA1 | c.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 |
9 | g.104825743T>G | CA374321084 | ABCA1 | c.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 | |
9 | g.104825743T= | CA1869915026 | ABCA1 | c.2482A= (p.Met828=) n.655A= c.2302A= (p.Met768=) c.2557A= (p.Met853=) c.2119A= (p.Met707=) c.2419A= (p.Met807=) n.2870A= | |
9 | g.104825744C>A | CA374321085 | ABCA1 | c.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 | |
9 | g.104825744C>G | CA374321086 | ABCA1 | c.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 | |
9 | g.104825744C>T | CA374321087 | ABCA1 | c.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 |
9 | g.104825745A>C | CA374321088 | ABCA1 | c.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 | |
9 | g.104825745A>G | CA374321089 | ABCA1 | c.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 |
9 | g.104825745A>T | CA374321091 | ABCA1 | c.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 | |
9 | g.104825746T>A | CA374321097 | ABCA1 | c.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 |
9 | g.104825746T>C | CA374321093 | ABCA1 | c.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 |
9 | g.104825746T>G | CA374321095 | ABCA1 | c.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 |
9 | g.104825746T= | CA1869915028 | ABCA1 | c.2479A= (p.Met827=) n.652A= c.2299A= (p.Met767=) c.2554A= (p.Met852=) c.2116A= (p.Met706=) c.2416A= (p.Met806=) n.2867A= | |
9 | g.104825747G>A | CA466506892 | ABCA1 | c.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 |
9 | g.104825747G>C | CA466506894 | ABCA1 | c.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 | |
9 | g.104825747G>T | CA466506893 | ABCA1 | c.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 | |
9 | g.104825748G>A | CA374321099 | ABCA1 | c.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 | |
9 | g.104825748G>C | CA5168722 | ABCA1 | c.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 |
9 | g.104825748G= | CA1869915030 | ABCA1 | c.2477C= (p.Ser826=) n.650C= c.2297C= (p.Ser766=) c.2552C= (p.Ser851=) c.2114C= (p.Ser705=) c.2414C= (p.Ser805=) n.2865C= | |
9 | g.104825748G>T | CA374321102 | ABCA1 | c.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 | |
9 | g.104825749A>C | CA374321104 | ABCA1 | c.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 | |
9 | g.104825749A>G | CA374321105 | ABCA1 | c.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 | |
9 | g.104825749A>T | CA374321107 | ABCA1 | c.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 | |
9 | g.104825750G>A | CA466506895 | ABCA1 | c.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 | |
9 | g.104825750G>C | CA466506896 | ABCA1 | c.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 | |
9 | g.104825750G>T | CA466506897 | ABCA1 | c.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 | |
9 | g.104825751A>C | CA374321109 | ABCA1 | c.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 | |
9 | g.104825751A>G | CA374321110 | ABCA1 | c.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 | |
9 | g.104825751A>T | CA374321112 | ABCA1 | c.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 | |
9 | g.104825752C>A | CA374321114 | ABCA1 | c.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 | |
9 | g.104825752C= | CA1869915036 | ABCA1 | c.2473G= (p.Val825=) n.646G= c.2293G= (p.Val765=) c.2548G= (p.Val850=) c.2110G= (p.Val704=) c.2410G= (p.Val804=) n.2861G= | |
9 | g.104825752C>G | CA374321116 | ABCA1 | c.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 | |
9 | g.104825752C>T | CA5168723 | ABCA1 | c.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 |