Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1047481_1047500del | CA783177544 | ABCA7 | c.2096_2115del (p.Phe699SerfsTer?) n.2776_2795del c.1682_1701del (p.Phe561SerfsTer?) n.514_533del c.1640_1659del (p.Phe547SerfsTer?) n.2314_2333del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047499C>A | CA402952909 | ABCA7 | c.2114C>A (p.Ala705Asp) n.2794C>A c.1700C>A (p.Ala567Asp) n.532C>A c.1658C>A (p.Ala553Asp) n.2332C>A | gnomAD v4 |
19 | g.1047499C>G | CA402952912 | ABCA7 | c.2114C>G (p.Ala705Gly) n.2794C>G c.1700C>G (p.Ala567Gly) n.532C>G c.1658C>G (p.Ala553Gly) n.2332C>G | |
19 | g.1047499C>T | CA402952914 | ABCA7 | c.2114C>T (p.Ala705Val) n.2794C>T c.1700C>T (p.Ala567Val) n.532C>T c.1658C>T (p.Ala553Val) n.2332C>T | gnomAD v4 |
19 | g.1047500T>A | CA504887753 | ABCA7 | c.2115T>A (p.Ala705=) n.2795T>A c.1701T>A (p.Ala567=) n.533T>A c.1659T>A (p.Ala553=) n.2333T>A | |
19 | g.1047500T>C | CA504887754 | ABCA7 | c.2115T>C (p.Ala705=) n.2795T>C c.1701T>C (p.Ala567=) n.533T>C c.1659T>C (p.Ala553=) n.2333T>C | |
19 | g.1047500T>G | CA504887755 | ABCA7 | c.2115T>G (p.Ala705=) n.2795T>G c.1701T>G (p.Ala567=) n.533T>G c.1659T>G (p.Ala553=) n.2333T>G | |
19 | g.1047501C>A | CA402952919 | ABCA7 | c.2116C>A (p.Leu706Met) n.2796C>A c.1702C>A (p.Leu568Met) n.534C>A c.1660C>A (p.Leu554Met) n.2334C>A | gnomAD v4 |
19 | g.1047501C>G | CA402952917 | ABCA7 | c.2116C>G (p.Leu706Val) n.2796C>G c.1702C>G (p.Leu568Val) n.534C>G c.1660C>G (p.Leu554Val) n.2334C>G | |
19 | g.1047501C>T | CA504887756 | ABCA7 | c.2116C>T (p.Leu706=) n.2796C>T c.1702C>T (p.Leu568=) n.534C>T c.1660C>T (p.Leu554=) n.2334C>T | gnomAD v4 |
19 | g.1047501_1047502delinsCT | CA2317483003 | ABCA7 | c.2116_2117delinsCT (p.Leu706=) n.2796_2797delinsCT c.1702_1703delinsCT (p.Leu568=) n.534_535delinsCT c.1660_1661delinsCT (p.Leu554=) n.2334_2335delinsCT | |
19 | g.1047502del | CA783177614 | ABCA7 | c.2117del (p.Leu706ArgfsTer?) n.2797del c.1703del (p.Leu568ArgfsTer?) n.535del c.1661del (p.Leu554ArgfsTer?) n.2335del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047502T>A | CA402952922 | ABCA7 | c.2117T>A (p.Leu706Gln) n.2797T>A c.1703T>A (p.Leu568Gln) n.535T>A c.1661T>A (p.Leu554Gln) n.2335T>A | |
19 | g.1047502T>C | CA402952925 | ABCA7 | c.2117T>C (p.Leu706Pro) n.2797T>C c.1703T>C (p.Leu568Pro) n.535T>C c.1661T>C (p.Leu554Pro) n.2335T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047502T>G | CA402952928 | ABCA7 | c.2117T>G (p.Leu706Arg) n.2797T>G c.1703T>G (p.Leu568Arg) n.535T>G c.1661T>G (p.Leu554Arg) n.2335T>G | |
19 | g.1047502T= | CA2317483004 | ABCA7 | c.2117T= (p.Leu706=) n.2797T= c.1703T= (p.Leu568=) n.535T= c.1661T= (p.Leu554=) n.2335T= | |
19 | g.1047503G>A | CA504887759 | ABCA7 | c.2118G>A (p.Leu706=) n.2798G>A c.1704G>A (p.Leu568=) n.536G>A c.1662G>A (p.Leu554=) n.2336G>A | gnomAD v4 |
19 | g.1047503G>C | CA504887758 | ABCA7 | c.2118G>C (p.Leu706=) n.2798G>C c.1704G>C (p.Leu568=) n.536G>C c.1662G>C (p.Leu554=) n.2336G>C | gnomAD v4 |
19 | g.1047503G>T | CA504887757 | ABCA7 | c.2118G>T (p.Leu706=) n.2798G>T c.1704G>T (p.Leu568=) n.536G>T c.1662G>T (p.Leu554=) n.2336G>T | gnomAD v4 |
19 | g.1047504C>A | CA402952931 | ABCA7 | c.2119C>A (p.Leu707Met) n.2799C>A c.1705C>A (p.Leu569Met) n.537C>A c.1663C>A (p.Leu555Met) n.2337C>A | gnomAD v4 |
19 | g.1047504C>G | CA402952934 | ABCA7 | c.2119C>G (p.Leu707Val) n.2799C>G c.1705C>G (p.Leu569Val) n.537C>G c.1663C>G (p.Leu555Val) n.2337C>G | |
19 | g.1047504C>T | CA504887760 | ABCA7 | c.2119C>T (p.Leu707=) n.2799C>T c.1705C>T (p.Leu569=) n.537C>T c.1663C>T (p.Leu555=) n.2337C>T | gnomAD v4 |
19 | g.1047505T>A | CA402952937 | ABCA7 | c.2120T>A (p.Leu707Gln) n.2800T>A c.1706T>A (p.Leu569Gln) n.538T>A c.1664T>A (p.Leu555Gln) n.2338T>A | |
19 | g.1047505T>C | CA402952938 | ABCA7 | c.2120T>C (p.Leu707Pro) n.2800T>C c.1706T>C (p.Leu569Pro) n.538T>C c.1664T>C (p.Leu555Pro) n.2338T>C | |
19 | g.1047505T>G | CA402952942 | ABCA7 | c.2120T>G (p.Leu707Arg) n.2800T>G c.1706T>G (p.Leu569Arg) n.538T>G c.1664T>G (p.Leu555Arg) n.2338T>G | |
19 | g.1047506G>A | CA504887761 | ABCA7 | c.2121G>A (p.Leu707=) n.2801G>A c.1707G>A (p.Leu569=) n.539G>A c.1665G>A (p.Leu555=) n.2339G>A | dbSNP gnomAD v4 |
19 | g.1047506G>C | CA504887762 | ABCA7 | c.2121G>C (p.Leu707=) n.2801G>C c.1707G>C (p.Leu569=) n.539G>C c.1665G>C (p.Leu555=) n.2339G>C | |
19 | g.1047506G= | CA2317483005 | ABCA7 | c.2121G= (p.Leu707=) n.2801G= c.1707G= (p.Leu569=) n.539G= c.1665G= (p.Leu555=) n.2339G= | |
19 | g.1047506G>T | CA504887763 | ABCA7 | c.2121G>T (p.Leu707=) n.2801G>T c.1707G>T (p.Leu569=) n.539G>T c.1665G>T (p.Leu555=) n.2339G>T | gnomAD v4 |
19 | g.1047507G>A | CA9033310 | ABCA7 | c.2122G>A (p.Glu708Lys) n.2802G>A c.1708G>A (p.Glu570Lys) n.540G>A c.1666G>A (p.Glu556Lys) n.2340G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047507G>C | CA9033309 | ABCA7 | c.2122G>C (p.Glu708Gln) n.2802G>C c.1708G>C (p.Glu570Gln) n.540G>C c.1666G>C (p.Glu556Gln) n.2340G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047507G= | CA2317483006 | ABCA7 | c.2122G= (p.Glu708=) n.2802G= c.1708G= (p.Glu570=) n.540G= c.1666G= (p.Glu556=) n.2340G= | |
19 | g.1047507G>T | CA402952949 | ABCA7 | c.2122G>T (p.Glu708Ter) n.2802G>T c.1708G>T (p.Glu570Ter) n.540G>T c.1666G>T (p.Glu556Ter) n.2340G>T | gnomAD v4 |
19 | g.1047507_1047513delinsGAGGAGC | CA2317483007 | ABCA7 | c.2122_2128delinsGAGGAGC (p.Glu708=) n.2802_2808delinsGAGGAGC c.1708_1714delinsGAGGAGC (p.Glu570=) n.540_546delinsGAGGAGC c.1666_1672delinsGAGGAGC (p.Glu556=) n.2340_2346delinsGAGGAGC | |
19 | g.1047508A= | CA2317483009 | ABCA7 | c.2123A= (p.Glu708=) n.2803A= c.1709A= (p.Glu570=) n.541A= c.1667A= (p.Glu556=) n.2341A= | |
19 | g.1047508A>C | CA402952957 | ABCA7 | c.2123A>C (p.Glu708Ala) n.2803A>C c.1709A>C (p.Glu570Ala) n.541A>C c.1667A>C (p.Glu556Ala) n.2341A>C | |
19 | g.1047508A>G | CA402952960 | ABCA7 | c.2123A>G (p.Glu708Gly) n.2803A>G c.1709A>G (p.Glu570Gly) n.541A>G c.1667A>G (p.Glu556Gly) n.2341A>G | gnomAD v4 |
19 | g.1047508A>T | CA402952955 | ABCA7 | c.2123A>T (p.Glu708Val) n.2803A>T c.1709A>T (p.Glu570Val) n.541A>T c.1667A>T (p.Glu556Val) n.2341A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047508_1047514del | CA2735454247 | ABCA7 | c.2123_2129del (p.Glu708GlyfsTer?) n.2803_2809del c.1709_1715del (p.Glu570GlyfsTer?) n.541_547del c.1667_1673del (p.Glu556GlyfsTer?) n.2341_2347del | dbSNP |
19 | g.1047508_1047515delinsAGGAGCAG | CA2317483008 | ABCA7 | c.2123_2130delinsAGGAGCAG (p.Glu708=) n.2803_2810delinsAGGAGCAG c.1709_1716delinsAGGAGCAG (p.Glu570=) n.541_548delinsAGGAGCAG c.1667_1674delinsAGGAGCAG (p.Glu556=) n.2341_2348delinsAGGAGCAG | |
19 | g.1047511_1047516del | CA358677 | ABCA7 | c.2126_2131del (p.Glu709_Gln710del) n.2806_2811del c.1712_1717del (p.Glu571_Gln572del) n.544_549del c.1670_1675del (p.Glu557_Gln558del) n.2344_2349del | dbSNP |
19 | g.1047509G>A | CA504887765 | ABCA7 | c.2124G>A (p.Glu708=) n.2804G>A c.1710G>A (p.Glu570=) n.542G>A c.1668G>A (p.Glu556=) n.2342G>A | dbSNP gnomAD v4 |
19 | g.1047509G>C | CA402952965 | ABCA7 | c.2124G>C (p.Glu708Asp) n.2804G>C c.1710G>C (p.Glu570Asp) n.542G>C c.1668G>C (p.Glu556Asp) n.2342G>C | gnomAD v4 |
19 | g.1047509G= | CA2317483010 | ABCA7 | c.2124G= (p.Glu708=) n.2804G= c.1710G= (p.Glu570=) n.542G= c.1668G= (p.Glu556=) n.2342G= | |
19 | g.1047509G>T | CA402952968 | ABCA7 | c.2124G>T (p.Glu708Asp) n.2804G>T c.1710G>T (p.Glu570Asp) n.542G>T c.1668G>T (p.Glu556Asp) n.2342G>T | gnomAD v4 |
19 | g.1047511_1047517del | CA9033311 | ABCA7 | c.2126_2132del (p.Glu709AlafsTer?) n.2806_2812del c.1712_1718del (p.Glu571AlafsTer?) n.544_550del c.1670_1676del (p.Glu557AlafsTer?) n.2344_2350del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047510G>A | CA402952976 | ABCA7 | c.2125G>A (p.Glu709Lys) n.2805G>A c.1711G>A (p.Glu571Lys) n.543G>A c.1669G>A (p.Glu557Lys) n.2343G>A | gnomAD v4 |
19 | g.1047510G>C | CA402952978 | ABCA7 | c.2125G>C (p.Glu709Gln) n.2805G>C c.1711G>C (p.Glu571Gln) n.543G>C c.1669G>C (p.Glu557Gln) n.2343G>C | |
19 | g.1047510G>T | CA402952981 | ABCA7 | c.2125G>T (p.Glu709Ter) n.2805G>T c.1711G>T (p.Glu571Ter) n.543G>T c.1669G>T (p.Glu557Ter) n.2343G>T | gnomAD v4 |
19 | g.1047511A>C | CA402952982 | ABCA7 | c.2126A>C (p.Glu709Ala) n.2806A>C c.1712A>C (p.Glu571Ala) n.544A>C c.1670A>C (p.Glu557Ala) n.2344A>C | |
19 | g.1047511A>G | CA402952983 | ABCA7 | c.2126A>G (p.Glu709Gly) n.2806A>G c.1712A>G (p.Glu571Gly) n.544A>G c.1670A>G (p.Glu557Gly) n.2344A>G | gnomAD v4 |
19 | g.1047511A>T | CA402952984 | ABCA7 | c.2126A>T (p.Glu709Val) n.2806A>T c.1712A>T (p.Glu571Val) n.544A>T c.1670A>T (p.Glu557Val) n.2344A>T | gnomAD v4 |
19 | g.1047513_1047515del | CA2841534647 | ABCA7 | c.2128_2130del (p.Gln710del) n.2808_2810del c.1714_1716del (p.Gln572del) n.546_548del c.1672_1674del (p.Gln558del) n.2346_2348del | |
19 | g.1047512G>A | CA504887769 | ABCA7 | c.2127G>A (p.Glu709=) n.2807G>A c.1713G>A (p.Glu571=) n.545G>A c.1671G>A (p.Glu557=) n.2345G>A | gnomAD v4 |
19 | g.1047512G>C | CA402952986 | ABCA7 | c.2127G>C (p.Glu709Asp) n.2807G>C c.1713G>C (p.Glu571Asp) n.545G>C c.1671G>C (p.Glu557Asp) n.2345G>C | |
19 | g.1047512G>T | CA402952988 | ABCA7 | c.2127G>T (p.Glu709Asp) n.2807G>T c.1713G>T (p.Glu571Asp) n.545G>T c.1671G>T (p.Glu557Asp) n.2345G>T | gnomAD v4 |
19 | g.1047513del | CA2588185624 | ABCA7 | c.2128del (p.Gln710ArgfsTer?) n.2808del c.1714del (p.Gln572ArgfsTer?) n.546del c.1672del (p.Gln558ArgfsTer?) n.2346del | gnomAD v4 |
19 | g.1047513C>A | CA402952992 | ABCA7 | c.2128C>A (p.Gln710Lys) n.2808C>A c.1714C>A (p.Gln572Lys) n.546C>A c.1672C>A (p.Gln558Lys) n.2346C>A | gnomAD v4 |
19 | g.1047513C= | CA2317483011 | ABCA7 | c.2128C= (p.Gln710=) n.2808C= c.1714C= (p.Gln572=) n.546C= c.1672C= (p.Gln558=) n.2346C= | |
19 | g.1047513C>G | CA402952996 | ABCA7 | c.2128C>G (p.Gln710Glu) n.2808C>G c.1714C>G (p.Gln572Glu) n.546C>G c.1672C>G (p.Gln558Glu) n.2346C>G | |
19 | g.1047513C>T | CA402952994 | ABCA7 | c.2128C>T (p.Gln710Ter) n.2808C>T c.1714C>T (p.Gln572Ter) n.546C>T c.1672C>T (p.Gln558Ter) n.2346C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047514A>C | CA402953001 | ABCA7 | c.2129A>C (p.Gln710Pro) n.2809A>C c.1715A>C (p.Gln572Pro) n.547A>C c.1673A>C (p.Gln558Pro) n.2347A>C | |
19 | g.1047514A>G | CA402953003 | ABCA7 | c.2129A>G (p.Gln710Arg) n.2809A>G c.1715A>G (p.Gln572Arg) n.547A>G c.1673A>G (p.Gln558Arg) n.2347A>G | gnomAD v4 |
19 | g.1047514A>T | CA402953005 | ABCA7 | c.2129A>T (p.Gln710Leu) n.2809A>T c.1715A>T (p.Gln572Leu) n.547A>T c.1673A>T (p.Gln558Leu) n.2347A>T | gnomAD v4 |
19 | g.1047514_1047516delinsAGG | CA2317483012 | ABCA7 | c.2129_2131delinsAGG (p.Gln710=) n.2809_2811delinsAGG c.1715_1717delinsAGG (p.Gln572=) n.547_549delinsAGG c.1673_1675delinsAGG (p.Gln558=) n.2347_2349delinsAGG | |
19 | g.1047515G>A | CA504887771 | ABCA7 | c.2130G>A (p.Gln710=) n.2810G>A c.1716G>A (p.Gln572=) n.548G>A c.1674G>A (p.Gln558=) n.2348G>A | gnomAD v4 |
19 | g.1047515G>C | CA402953010 | ABCA7 | c.2130G>C (p.Gln710His) n.2810G>C c.1716G>C (p.Gln572His) n.548G>C c.1674G>C (p.Gln558His) n.2348G>C | |
19 | g.1047515G>T | CA402953011 | ABCA7 | c.2130G>T (p.Gln710His) n.2810G>T c.1716G>T (p.Gln572His) n.548G>T c.1674G>T (p.Gln558His) n.2348G>T | gnomAD v4 |
19 | g.1047516_1047517del | CA631297541 | ABCA7 | c.2131_2132del (p.Gly711ArgfsTer?) n.2811_2812del c.1717_1718del (p.Gly573ArgfsTer?) n.549_550del c.1675_1676del (p.Gly559ArgfsTer?) n.2349_2350del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047516G>A | CA402953015 | ABCA7 | c.2131G>A (p.Gly711Ser) n.2811G>A c.1717G>A (p.Gly573Ser) n.549G>A c.1675G>A (p.Gly559Ser) n.2349G>A | dbSNP gnomAD v4 |
19 | g.1047516G>C | CA402953018 | ABCA7 | c.2131G>C (p.Gly711Arg) n.2811G>C c.1717G>C (p.Gly573Arg) n.549G>C c.1675G>C (p.Gly559Arg) n.2349G>C | |
19 | g.1047516G= | CA2317483013 | ABCA7 | c.2131G= (p.Gly711=) n.2811G= c.1717G= (p.Gly573=) n.549G= c.1675G= (p.Gly559=) n.2349G= | |
19 | g.1047516G>T | CA402953021 | ABCA7 | c.2131G>T (p.Gly711Cys) n.2811G>T c.1717G>T (p.Gly573Cys) n.549G>T c.1675G>T (p.Gly559Cys) n.2349G>T | gnomAD v4 |
19 | g.1047517G>A | CA402953024 | ABCA7 | c.2132G>A (p.Gly711Asp) n.2812G>A c.1718G>A (p.Gly573Asp) n.550G>A c.1676G>A (p.Gly559Asp) n.2350G>A | gnomAD v4 |
19 | g.1047517G>C | CA402953027 | ABCA7 | c.2132G>C (p.Gly711Ala) n.2812G>C c.1718G>C (p.Gly573Ala) n.550G>C c.1676G>C (p.Gly559Ala) n.2350G>C | |
19 | g.1047517G>T | CA402953030 | ABCA7 | c.2132G>T (p.Gly711Val) n.2812G>T c.1718G>T (p.Gly573Val) n.550G>T c.1676G>T (p.Gly559Val) n.2350G>T | gnomAD v4 |
19 | g.1047518C>A | CA504887778 | ABCA7 | c.2133C>A (p.Gly711=) n.2813C>A c.1719C>A (p.Gly573=) n.551C>A c.1677C>A (p.Gly559=) n.2351C>A | gnomAD v4 |
19 | g.1047518C>G | CA504887777 | ABCA7 | c.2133C>G (p.Gly711=) n.2813C>G c.1719C>G (p.Gly573=) n.551C>G c.1677C>G (p.Gly559=) n.2351C>G | |
19 | g.1047518C>T | CA504887776 | ABCA7 | c.2133C>T (p.Gly711=) n.2813C>T c.1719C>T (p.Gly573=) n.551C>T c.1677C>T (p.Gly559=) n.2351C>T | dbSNP gnomAD v4 |
19 | g.1047519G>A | CA402953035 | ABCA7 | c.2134G>A (p.Glu712Lys) n.2814G>A c.1720G>A (p.Glu574Lys) n.552G>A c.1678G>A (p.Glu560Lys) n.2352G>A | ClinVar gnomAD v4 |
19 | g.1047519G>C | CA402953038 | ABCA7 | c.2134G>C (p.Glu712Gln) n.2814G>C c.1720G>C (p.Glu574Gln) n.552G>C c.1678G>C (p.Glu560Gln) n.2352G>C | gnomAD v4 |
19 | g.1047519G>T | CA402953033 | ABCA7 | c.2134G>T (p.Glu712Ter) n.2814G>T c.1720G>T (p.Glu574Ter) n.552G>T c.1678G>T (p.Glu560Ter) n.2352G>T | gnomAD v4 |
19 | g.1047520A= | CA2317483014 | ABCA7 | c.2135A= (p.Glu712=) n.2815A= c.1721A= (p.Glu574=) n.553A= c.1679A= (p.Glu560=) n.2353A= | |
19 | g.1047520A>C | CA402953041 | ABCA7 | c.2135A>C (p.Glu712Ala) n.2815A>C c.1721A>C (p.Glu574Ala) n.553A>C c.1679A>C (p.Glu560Ala) n.2353A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047520A>G | CA402953043 | ABCA7 | c.2135A>G (p.Glu712Gly) n.2815A>G c.1721A>G (p.Glu574Gly) n.553A>G c.1679A>G (p.Glu560Gly) n.2353A>G | gnomAD v4 |
19 | g.1047520A>T | CA402953047 | ABCA7 | c.2135A>T (p.Glu712Val) n.2815A>T c.1721A>T (p.Glu574Val) n.553A>T c.1679A>T (p.Glu560Val) n.2353A>T | |
19 | g.1047521G>A | CA504887783 | ABCA7 | c.2136G>A (p.Glu712=) n.2816G>A c.1722G>A (p.Glu574=) n.554G>A c.1680G>A (p.Glu560=) n.2354G>A | gnomAD v4 |
19 | g.1047521G>C | CA402953052 | ABCA7 | c.2136G>C (p.Glu712Asp) n.2816G>C c.1722G>C (p.Glu574Asp) n.554G>C c.1680G>C (p.Glu560Asp) n.2354G>C | |
19 | g.1047521G>T | CA402953055 | ABCA7 | c.2136G>T (p.Glu712Asp) n.2816G>T c.1722G>T (p.Glu574Asp) n.554G>T c.1680G>T (p.Glu560Asp) n.2354G>T | gnomAD v4 |
19 | g.1047523del | CA2588185625 | ABCA7 | c.2138del (p.Gly713AlafsTer?) n.2818del c.1724del (p.Gly575AlafsTer?) n.556del c.1682del (p.Gly561AlafsTer?) n.2356del | gnomAD v4 |
19 | g.1047522_1047533dup | CA9033312 | ABCA7 | c.2137_2148dup (p.Trp716_His717insGlyAlaGlnTrp) n.2817_2828dup c.1723_1734dup (p.Trp578_His579insGlyAlaGlnTrp) n.555_566dup c.1681_1692dup (p.Trp564_His565insGlyAlaGlnTrp) n.2355_2366dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047522G>A | CA402953059 | ABCA7 | c.2137G>A (p.Gly713Ser) n.2817G>A c.1723G>A (p.Gly575Ser) n.555G>A c.1681G>A (p.Gly561Ser) n.2355G>A | |
19 | g.1047522G>C | CA402953064 | ABCA7 | c.2137G>C (p.Gly713Arg) n.2817G>C c.1723G>C (p.Gly575Arg) n.555G>C c.1681G>C (p.Gly561Arg) n.2355G>C | |
19 | g.1047522G>T | CA402953062 | ABCA7 | c.2137G>T (p.Gly713Cys) n.2817G>T c.1723G>T (p.Gly575Cys) n.555G>T c.1681G>T (p.Gly561Cys) n.2355G>T | gnomAD v4 |
19 | g.1047523G>A | CA303996025 | ABCA7 | c.2138G>A (p.Gly713Asp) n.2818G>A c.1724G>A (p.Gly575Asp) n.556G>A c.1682G>A (p.Gly561Asp) n.2356G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047523G>C | CA402953069 | ABCA7 | c.2138G>C (p.Gly713Ala) n.2818G>C c.1724G>C (p.Gly575Ala) n.556G>C c.1682G>C (p.Gly561Ala) n.2356G>C | |
19 | g.1047523G= | CA2317483015 | ABCA7 | c.2138G= (p.Gly713=) n.2818G= c.1724G= (p.Gly575=) n.556G= c.1682G= (p.Gly561=) n.2356G= | |
19 | g.1047523G>T | CA402953072 | ABCA7 | c.2138G>T (p.Gly713Val) n.2818G>T c.1724G>T (p.Gly575Val) n.556G>T c.1682G>T (p.Gly561Val) n.2356G>T | gnomAD v4 |
19 | g.1047524C>A | CA504887786 | ABCA7 | c.2139C>A (p.Gly713=) n.2819C>A c.1725C>A (p.Gly575=) n.557C>A c.1683C>A (p.Gly561=) n.2357C>A | gnomAD v4 |
19 | g.1047524C= | CA2317483016 | ABCA7 | c.2139C= (p.Gly713=) n.2819C= c.1725C= (p.Gly575=) n.557C= c.1683C= (p.Gly561=) n.2357C= | |
19 | g.1047524C>G | CA9033313 | ABCA7 | c.2139C>G (p.Gly713=) n.2819C>G c.1725C>G (p.Gly575=) n.557C>G c.1683C>G (p.Gly561=) n.2357C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047524C>T | CA504887787 | ABCA7 | c.2139C>T (p.Gly713=) n.2819C>T c.1725C>T (p.Gly575=) n.557C>T c.1683C>T (p.Gly561=) n.2357C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047525G>A | CA9033314 | ABCA7 | c.2140G>A (p.Ala714Thr) n.2820G>A c.1726G>A (p.Ala576Thr) n.558G>A c.1684G>A (p.Ala562Thr) n.2358G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047525G>C | CA402953077 | ABCA7 | c.2140G>C (p.Ala714Pro) n.2820G>C c.1726G>C (p.Ala576Pro) n.558G>C c.1684G>C (p.Ala562Pro) n.2358G>C | |
19 | g.1047525G= | CA2317483017 | ABCA7 | c.2140G= (p.Ala714=) n.2820G= c.1726G= (p.Ala576=) n.558G= c.1684G= (p.Ala562=) n.2358G= | |
19 | g.1047525G>T | CA402953080 | ABCA7 | c.2140G>T (p.Ala714Ser) n.2820G>T c.1726G>T (p.Ala576Ser) n.558G>T c.1684G>T (p.Ala562Ser) n.2358G>T | gnomAD v4 |
19 | g.1047526C>A | CA402953085 | ABCA7 | c.2141C>A (p.Ala714Glu) n.2821C>A c.1727C>A (p.Ala576Glu) n.559C>A c.1685C>A (p.Ala562Glu) n.2359C>A | gnomAD v4 |
19 | g.1047526C= | CA2317483018 | ABCA7 | c.2141C= (p.Ala714=) n.2821C= c.1727C= (p.Ala576=) n.559C= c.1685C= (p.Ala562=) n.2359C= | |
19 | g.1047526C>G | CA402953088 | ABCA7 | c.2141C>G (p.Ala714Gly) n.2821C>G c.1727C>G (p.Ala576Gly) n.559C>G c.1685C>G (p.Ala562Gly) n.2359C>G | |
19 | g.1047526C>T | CA9033315 | ABCA7 | c.2141C>T (p.Ala714Val) n.2821C>T c.1727C>T (p.Ala576Val) n.559C>T c.1685C>T (p.Ala562Val) n.2359C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047527G>A | CA9033316 | ABCA7 | c.2142G>A (p.Ala714=) n.2822G>A c.1728G>A (p.Ala576=) n.560G>A c.1686G>A (p.Ala562=) n.2360G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047527G>C | CA504887788 | ABCA7 | c.2142G>C (p.Ala714=) n.2822G>C c.1728G>C (p.Ala576=) n.560G>C c.1686G>C (p.Ala562=) n.2360G>C | |
19 | g.1047527G= | CA2317483019 | ABCA7 | c.2142G= (p.Ala714=) n.2822G= c.1728G= (p.Ala576=) n.560G= c.1686G= (p.Ala562=) n.2360G= | |
19 | g.1047527G>T | CA504887789 | ABCA7 | c.2142G>T (p.Ala714=) n.2822G>T c.1728G>T (p.Ala576=) n.560G>T c.1686G>T (p.Ala562=) n.2360G>T | gnomAD v4 |
19 | g.1047528C>A | CA402953100 | ABCA7 | c.2143C>A (p.Gln715Lys) n.2823C>A c.1729C>A (p.Gln577Lys) n.561C>A c.1687C>A (p.Gln563Lys) n.2361C>A | gnomAD v4 |
19 | g.1047528C>G | CA402953103 | ABCA7 | c.2143C>G (p.Gln715Glu) n.2823C>G c.1729C>G (p.Gln577Glu) n.561C>G c.1687C>G (p.Gln563Glu) n.2361C>G | |
19 | g.1047528C>T | CA402953107 | ABCA7 | c.2143C>T (p.Gln715Ter) n.2823C>T c.1729C>T (p.Gln577Ter) n.561C>T c.1687C>T (p.Gln563Ter) n.2361C>T | gnomAD v4 COSMIC |
19 | g.1047529A= | CA2317483021 | ABCA7 | c.2144A= (p.Gln715=) n.2824A= c.1730A= (p.Gln577=) n.562A= c.1688A= (p.Gln563=) n.2362A= | |
19 | g.1047529A>C | CA402953112 | ABCA7 | c.2144A>C (p.Gln715Pro) n.2824A>C c.1730A>C (p.Gln577Pro) n.562A>C c.1688A>C (p.Gln563Pro) n.2362A>C | |
19 | g.1047529A>G | CA9033318 | ABCA7 | c.2144A>G (p.Gln715Arg) n.2824A>G c.1730A>G (p.Gln577Arg) n.562A>G c.1688A>G (p.Gln563Arg) n.2362A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047529A>T | CA402953117 | ABCA7 | c.2144A>T (p.Gln715Leu) n.2824A>T c.1730A>T (p.Gln577Leu) n.562A>T c.1688A>T (p.Gln563Leu) n.2362A>T | |
19 | g.1047529_1047539delinsAGTGGCACAAC | CA2317483020 | ABCA7 | c.2144_2154delinsAGTGGCACAAC (p.Gln715=) n.2824_2834delinsAGTGGCACAAC c.1730_1740delinsAGTGGCACAAC (p.Gln577=) n.562_572delinsAGTGGCACAAC c.1688_1698delinsAGTGGCACAAC (p.Gln563=) n.2362_2372delinsAGTGGCACAAC | |
19 | g.1047530G>A | CA504887791 | ABCA7 | c.2145G>A (p.Gln715=) n.2825G>A c.1731G>A (p.Gln577=) n.563G>A c.1689G>A (p.Gln563=) n.2363G>A | |
19 | g.1047530G>C | CA9033319 | ABCA7 | c.2145G>C (p.Gln715His) n.2825G>C c.1731G>C (p.Gln577His) n.563G>C c.1689G>C (p.Gln563His) n.2363G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047530G= | CA2317483022 | ABCA7 | c.2145G= (p.Gln715=) n.2825G= c.1731G= (p.Gln577=) n.563G= c.1689G= (p.Gln563=) n.2363G= | |
19 | g.1047530G>T | CA402953127 | ABCA7 | c.2145G>T (p.Gln715His) n.2825G>T c.1731G>T (p.Gln577His) n.563G>T c.1689G>T (p.Gln563His) n.2363G>T | gnomAD v4 |
19 | g.1047534_1047543del | CA9033317 | ABCA7 | c.2149_2158del (p.His717AlafsTer?) n.2829_2838del c.1735_1744del (p.His579AlafsTer?) n.567_576del c.1693_1702del (p.His565AlafsTer?) n.2367_2376del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047531T>A | CA402953137 | ABCA7 | c.2146T>A (p.Trp716Arg) n.2826T>A c.1732T>A (p.Trp578Arg) n.564T>A c.1690T>A (p.Trp564Arg) n.2364T>A | |
19 | g.1047531T>C | CA9033320 | ABCA7 | c.2146T>C (p.Trp716Arg) n.2826T>C c.1732T>C (p.Trp578Arg) n.564T>C c.1690T>C (p.Trp564Arg) n.2364T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047531T>G | CA402953139 | ABCA7 | c.2146T>G (p.Trp716Gly) n.2826T>G c.1732T>G (p.Trp578Gly) n.564T>G c.1690T>G (p.Trp564Gly) n.2364T>G | |
19 | g.1047531T= | CA2317483023 | ABCA7 | c.2146T= (p.Trp716=) n.2826T= c.1732T= (p.Trp578=) n.564T= c.1690T= (p.Trp564=) n.2364T= | |
19 | g.1047532G>A | CA402953146 | ABCA7 | c.2147G>A (p.Trp716Ter) n.2827G>A c.1733G>A (p.Trp578Ter) n.565G>A c.1691G>A (p.Trp564Ter) n.2365G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047532G>C | CA402953148 | ABCA7 | c.2147G>C (p.Trp716Ser) n.2827G>C c.1733G>C (p.Trp578Ser) n.565G>C c.1691G>C (p.Trp564Ser) n.2365G>C | |
19 | g.1047532G= | CA2317483024 | ABCA7 | c.2147G= (p.Trp716=) n.2827G= c.1733G= (p.Trp578=) n.565G= c.1691G= (p.Trp564=) n.2365G= | |
19 | g.1047532G>T | CA402953150 | ABCA7 | c.2147G>T (p.Trp716Leu) n.2827G>T c.1733G>T (p.Trp578Leu) n.565G>T c.1691G>T (p.Trp564Leu) n.2365G>T | gnomAD v4 |
19 | g.1047533G>A | CA402953157 | ABCA7 | c.2148G>A (p.Trp716Ter) n.2828G>A c.1734G>A (p.Trp578Ter) n.566G>A c.1692G>A (p.Trp564Ter) n.2366G>A | gnomAD v4 COSMIC |
19 | g.1047533G>C | CA402953159 | ABCA7 | c.2148G>C (p.Trp716Cys) n.2828G>C c.1734G>C (p.Trp578Cys) n.566G>C c.1692G>C (p.Trp564Cys) n.2366G>C | gnomAD v4 |
19 | g.1047533G>T | CA402953163 | ABCA7 | c.2148G>T (p.Trp716Cys) n.2828G>T c.1734G>T (p.Trp578Cys) n.566G>T c.1692G>T (p.Trp564Cys) n.2366G>T | gnomAD v4 |
19 | g.1047534C>A | CA402953171 | ABCA7 | c.2149C>A (p.His717Asn) n.2829C>A c.1735C>A (p.His579Asn) n.567C>A c.1693C>A (p.His565Asn) n.2367C>A | gnomAD v4 |
19 | g.1047534C= | CA2317483025 | ABCA7 | c.2149C= (p.His717=) n.2829C= c.1735C= (p.His579=) n.567C= c.1693C= (p.His565=) n.2367C= | |
19 | g.1047534C>G | CA402953164 | ABCA7 | c.2149C>G (p.His717Asp) n.2829C>G c.1735C>G (p.His579Asp) n.567C>G c.1693C>G (p.His565Asp) n.2367C>G | |
19 | g.1047534C>T | CA402953166 | ABCA7 | c.2149C>T (p.His717Tyr) n.2829C>T c.1735C>T (p.His579Tyr) n.567C>T c.1693C>T (p.His565Tyr) n.2367C>T | dbSNP gnomAD v4 |
19 | g.1047535A>C | CA402953174 | ABCA7 | c.2150A>C (p.His717Pro) n.2830A>C c.1736A>C (p.His579Pro) n.568A>C c.1694A>C (p.His565Pro) n.2368A>C | |
19 | g.1047535A>G | CA402953180 | ABCA7 | c.2150A>G (p.His717Arg) n.2830A>G c.1736A>G (p.His579Arg) n.568A>G c.1694A>G (p.His565Arg) n.2368A>G | gnomAD v4 |
19 | g.1047535A>T | CA402953183 | ABCA7 | c.2150A>T (p.His717Leu) n.2830A>T c.1736A>T (p.His579Leu) n.568A>T c.1694A>T (p.His565Leu) n.2368A>T | |
19 | g.1047537_1047539del | CA2588185626 | ABCA7 | c.2152_2154del (p.Asn718del) n.2832_2834del c.1738_1740del (p.Asn580del) n.570_572del c.1696_1698del (p.Asn566del) n.2370_2372del | gnomAD v4 |
19 | g.1047536C>A | CA402953187 | ABCA7 | c.2151C>A (p.His717Gln) n.2831C>A c.1737C>A (p.His579Gln) n.569C>A c.1695C>A (p.His565Gln) n.2369C>A | |
19 | g.1047536C= | CA2317483026 | ABCA7 | c.2151C= (p.His717=) n.2831C= c.1737C= (p.His579=) n.569C= c.1695C= (p.His565=) n.2369C= | |
19 | g.1047536C>G | CA402953190 | ABCA7 | c.2151C>G (p.His717Gln) n.2831C>G c.1737C>G (p.His579Gln) n.569C>G c.1695C>G (p.His565Gln) n.2369C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047536C>T | CA504887798 | ABCA7 | c.2151C>T (p.His717=) n.2831C>T c.1737C>T (p.His579=) n.569C>T c.1695C>T (p.His565=) n.2369C>T | gnomAD v4 |
19 | g.1047537A>C | CA402953195 | ABCA7 | c.2152A>C (p.Asn718His) n.2832A>C c.1738A>C (p.Asn580His) n.570A>C c.1696A>C (p.Asn566His) n.2370A>C | |
19 | g.1047537A>G | CA402953203 | ABCA7 | c.2152A>G (p.Asn718Asp) n.2832A>G c.1738A>G (p.Asn580Asp) n.570A>G c.1696A>G (p.Asn566Asp) n.2370A>G | |
19 | g.1047537A>T | CA402953200 | ABCA7 | c.2152A>T (p.Asn718Tyr) n.2832A>T c.1738A>T (p.Asn580Tyr) n.570A>T c.1696A>T (p.Asn566Tyr) n.2370A>T | |
19 | g.1047538A= | CA2317483027 | ABCA7 | c.2153A= (p.Asn718=) n.2833A= c.1739A= (p.Asn580=) n.571A= c.1697A= (p.Asn566=) n.2371A= | |
19 | g.1047538A>C | CA9033321 | ABCA7 | c.2153A>C (p.Asn718Thr) n.2833A>C c.1739A>C (p.Asn580Thr) n.571A>C c.1697A>C (p.Asn566Thr) n.2371A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047538A>G | CA402953210 | ABCA7 | c.2153A>G (p.Asn718Ser) n.2833A>G c.1739A>G (p.Asn580Ser) n.571A>G c.1697A>G (p.Asn566Ser) n.2371A>G | dbSNP |
19 | g.1047538A>T | CA402953214 | ABCA7 | c.2153A>T (p.Asn718Ile) n.2833A>T c.1739A>T (p.Asn580Ile) n.571A>T c.1697A>T (p.Asn566Ile) n.2371A>T | gnomAD v4 |
19 | g.1047539C>A | CA402953218 | ABCA7 | c.2154C>A (p.Asn718Lys) n.2834C>A c.1740C>A (p.Asn580Lys) n.572C>A c.1698C>A (p.Asn566Lys) n.2372C>A | gnomAD v4 COSMIC |
19 | g.1047539C= | CA2317483028 | ABCA7 | c.2154C= (p.Asn718=) n.2834C= c.1740C= (p.Asn580=) n.572C= c.1698C= (p.Asn566=) n.2372C= | |
19 | g.1047539C>G | CA9033322 | ABCA7 | c.2154C>G (p.Asn718Lys) n.2834C>G c.1740C>G (p.Asn580Lys) n.572C>G c.1698C>G (p.Asn566Lys) n.2372C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047539C>T | CA504887802 | ABCA7 | c.2154C>T (p.Asn718=) n.2834C>T c.1740C>T (p.Asn580=) n.572C>T c.1698C>T (p.Asn566=) n.2372C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047540G>A | CA402953224 | ABCA7 | c.2155G>A (p.Val719Met) n.2835G>A c.1741G>A (p.Val581Met) n.573G>A c.1699G>A (p.Val567Met) n.2373G>A | dbSNP gnomAD v4 |
19 | g.1047540G>C | CA402953229 | ABCA7 | c.2155G>C (p.Val719Leu) n.2835G>C c.1741G>C (p.Val581Leu) n.573G>C c.1699G>C (p.Val567Leu) n.2373G>C | |
19 | g.1047540G= | CA2317483029 | ABCA7 | c.2155G= (p.Val719=) n.2835G= c.1741G= (p.Val581=) n.573G= c.1699G= (p.Val567=) n.2373G= | |
19 | g.1047540G>T | CA402953232 | ABCA7 | c.2155G>T (p.Val719Leu) n.2835G>T c.1741G>T (p.Val581Leu) n.573G>T c.1699G>T (p.Val567Leu) n.2373G>T | gnomAD v4 |
19 | g.1047541T>A | CA402953242 | ABCA7 | c.2156T>A (p.Val719Glu) n.2836T>A c.1742T>A (p.Val581Glu) n.574T>A c.1700T>A (p.Val567Glu) n.2374T>A | |
19 | g.1047541T>C | CA402953246 | ABCA7 | c.2156T>C (p.Val719Ala) n.2836T>C c.1742T>C (p.Val581Ala) n.574T>C c.1700T>C (p.Val567Ala) n.2374T>C | gnomAD v4 |
19 | g.1047541T>G | CA402953248 | ABCA7 | c.2156T>G (p.Val719Gly) n.2836T>G c.1742T>G (p.Val581Gly) n.574T>G c.1700T>G (p.Val567Gly) n.2374T>G | gnomAD v4 |
19 | g.1047542G>A | CA504887805 | ABCA7 | c.2157G>A (p.Val719=) n.2837G>A c.1743G>A (p.Val581=) n.575G>A c.1701G>A (p.Val567=) n.2375G>A | gnomAD v4 |
19 | g.1047542G>C | CA504887806 | ABCA7 | c.2157G>C (p.Val719=) n.2837G>C c.1743G>C (p.Val581=) n.575G>C c.1701G>C (p.Val567=) n.2375G>C | gnomAD v4 |
19 | g.1047542G>T | CA504887807 | ABCA7 | c.2157G>T (p.Val719=) n.2837G>T c.1743G>T (p.Val581=) n.575G>T c.1701G>T (p.Val567=) n.2375G>T | gnomAD v4 |
19 | g.1047543G>A | CA402953258 | ABCA7 | c.2158G>A (p.Gly720Ser) n.2838G>A c.1744G>A (p.Gly582Ser) n.576G>A c.1702G>A (p.Gly568Ser) n.2376G>A | ClinVar dbSNP gnomAD v4 |
19 | g.1047543G>C | CA402953254 | ABCA7 | c.2158G>C (p.Gly720Arg) n.2838G>C c.1744G>C (p.Gly582Arg) n.576G>C c.1702G>C (p.Gly568Arg) n.2376G>C | |
19 | g.1047543G= | CA2317483030 | ABCA7 | c.2158G= (p.Gly720=) n.2838G= c.1744G= (p.Gly582=) n.576G= c.1702G= (p.Gly568=) n.2376G= | |
19 | g.1047543G>T | CA402953252 | ABCA7 | c.2158G>T (p.Gly720Cys) n.2838G>T c.1744G>T (p.Gly582Cys) n.576G>T c.1702G>T (p.Gly568Cys) n.2376G>T | gnomAD v4 |
19 | g.1047544G>A | CA402953264 | ABCA7 | c.2159G>A (p.Gly720Asp) n.2839G>A c.1745G>A (p.Gly582Asp) n.577G>A c.1703G>A (p.Gly568Asp) n.2377G>A | gnomAD v4 |
19 | g.1047544G>C | CA402953261 | ABCA7 | c.2159G>C (p.Gly720Ala) n.2839G>C c.1745G>C (p.Gly582Ala) n.577G>C c.1703G>C (p.Gly568Ala) n.2377G>C | gnomAD v4 |
19 | g.1047544G>T | CA402953267 | ABCA7 | c.2159G>T (p.Gly720Val) n.2839G>T c.1745G>T (p.Gly582Val) n.577G>T c.1703G>T (p.Gly568Val) n.2377G>T | gnomAD v4 COSMIC |
19 | g.1047545C>A | CA504887808 | ABCA7 | c.2160C>A (p.Gly720=) n.2840C>A c.1746C>A (p.Gly582=) n.578C>A c.1704C>A (p.Gly568=) n.2378C>A c.-109C>A (n.-109C>A) | gnomAD v4 |
19 | g.1047545C= | CA2317483031 | ABCA7 | c.2160C= (p.Gly720=) n.2840C= c.1746C= (p.Gly582=) n.578C= c.1704C= (p.Gly568=) n.2378C= c.-109C= (n.-109C=) | |
19 | g.1047545C>G | CA504887809 | ABCA7 | c.2160C>G (p.Gly720=) n.2840C>G c.1746C>G (p.Gly582=) n.578C>G c.1704C>G (p.Gly568=) n.2378C>G c.-109C>G (n.-109C>G) | |
19 | g.1047545C>T | CA504887810 | ABCA7 | c.2160C>T (p.Gly720=) n.2840C>T c.1746C>T (p.Gly582=) n.578C>T c.1704C>T (p.Gly568=) n.2378C>T c.-109C>T (n.-109C>T) | dbSNP gnomAD v4 |
19 | g.1047546A>C | CA402953271 | ABCA7 | c.2161A>C (p.Thr721Pro) n.2841A>C c.1747A>C (p.Thr583Pro) n.579A>C c.1705A>C (p.Thr569Pro) n.2379A>C c.-108A>C (n.-108A>C) | |
19 | g.1047546A>G | CA402953275 | ABCA7 | c.2161A>G (p.Thr721Ala) n.2841A>G c.1747A>G (p.Thr583Ala) n.579A>G c.1705A>G (p.Thr569Ala) n.2379A>G c.-108A>G (n.-108A>G) | |
19 | g.1047546A>T | CA402953279 | ABCA7 | c.2161A>T (p.Thr721Ser) n.2841A>T c.1747A>T (p.Thr583Ser) n.579A>T c.1705A>T (p.Thr569Ser) n.2379A>T c.-108A>T (n.-108A>T) | |
19 | g.1047547C>A | CA402953288 | ABCA7 | c.2162C>A (p.Thr721Asn) n.2842C>A c.1748C>A (p.Thr583Asn) n.580C>A c.1706C>A (p.Thr569Asn) c.-107C>A (n.-107C>A) n.2380C>A | dbSNP gnomAD v4 |
19 | g.1047547C= | CA2317483032 | ABCA7 | c.2162C= (p.Thr721=) n.2842C= c.1748C= (p.Thr583=) n.580C= c.1706C= (p.Thr569=) c.-107C= (n.-107C=) n.2380C= | |
19 | g.1047547C>G | CA402953292 | ABCA7 | c.2162C>G (p.Thr721Ser) n.2842C>G c.1748C>G (p.Thr583Ser) n.580C>G c.1706C>G (p.Thr569Ser) c.-107C>G (n.-107C>G) n.2380C>G | gnomAD v4 |
19 | g.1047547C>T | CA402953294 | ABCA7 | c.2162C>T (p.Thr721Ile) n.2842C>T c.1748C>T (p.Thr583Ile) n.580C>T c.1706C>T (p.Thr569Ile) c.-107C>T (n.-107C>T) n.2380C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047548C>A | CA504887811 | ABCA7 | c.2163C>A (p.Thr721=) n.2843C>A c.1749C>A (p.Thr583=) n.581C>A c.1707C>A (p.Thr569=) c.-106C>A (n.-106C>A) n.2381C>A | gnomAD v4 |
19 | g.1047548C>G | CA504887813 | ABCA7 | c.2163C>G (p.Thr721=) n.2843C>G c.1749C>G (p.Thr583=) n.581C>G c.1707C>G (p.Thr569=) c.-106C>G (n.-106C>G) n.2381C>G | |
19 | g.1047548C>T | CA504887814 | ABCA7 | c.2163C>T (p.Thr721=) n.2843C>T c.1749C>T (p.Thr583=) n.581C>T c.1707C>T (p.Thr569=) c.-106C>T (n.-106C>T) n.2381C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047549C>A | CA504887815 | ABCA7 | c.2164C>A (p.Arg722=) n.2844C>A c.1750C>A (p.Arg584=) n.582C>A c.1708C>A (p.Arg570=) c.-105C>A (n.-105C>A) n.2382C>A | gnomAD v4 |
19 | g.1047549C= | CA2317483033 | ABCA7 | c.2164C= (p.Arg722=) n.2844C= c.1750C= (p.Arg584=) n.582C= c.1708C= (p.Arg570=) c.-105C= (n.-105C=) n.2382C= | |
19 | g.1047549C>G | CA402953299 | ABCA7 | c.2164C>G (p.Arg722Gly) n.2844C>G c.1750C>G (p.Arg584Gly) n.582C>G c.1708C>G (p.Arg570Gly) c.-105C>G (n.-105C>G) n.2382C>G | gnomAD v4 |
19 | g.1047549C>T | CA402953297 | ABCA7 | c.2164C>T (p.Arg722Trp) n.2844C>T c.1750C>T (p.Arg584Trp) n.582C>T c.1708C>T (p.Arg570Trp) c.-105C>T (n.-105C>T) n.2382C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047550G>A | CA402953302 | ABCA7 | c.2165G>A (p.Arg722Gln) n.2845G>A c.1751G>A (p.Arg584Gln) n.583G>A c.1709G>A (p.Arg570Gln) c.-104G>A (n.-104G>A) n.2383G>A | dbSNP gnomAD v4 |
19 | g.1047550G>C | CA402953304 | ABCA7 | c.2165G>C (p.Arg722Pro) n.2845G>C c.1751G>C (p.Arg584Pro) n.583G>C c.1709G>C (p.Arg570Pro) c.-104G>C (n.-104G>C) n.2383G>C | |
19 | g.1047550G= | CA2317483034 | ABCA7 | c.2165G= (p.Arg722=) n.2845G= c.1751G= (p.Arg584=) n.583G= c.1709G= (p.Arg570=) c.-104G= (n.-104G=) n.2383G= | |
19 | g.1047550G>T | CA402953310 | ABCA7 | c.2165G>T (p.Arg722Leu) n.2845G>T c.1751G>T (p.Arg584Leu) n.583G>T c.1709G>T (p.Arg570Leu) c.-104G>T (n.-104G>T) n.2383G>T | gnomAD v4 |
19 | g.1047551G>A | CA504887816 | ABCA7 | c.2166G>A (p.Arg722=) n.2846G>A c.1752G>A (p.Arg584=) n.584G>A c.1710G>A (p.Arg570=) c.-103G>A (n.-103G>A) n.2384G>A | gnomAD v4 COSMIC |
19 | g.1047551G>C | CA504887817 | ABCA7 | c.2166G>C (p.Arg722=) n.2846G>C c.1752G>C (p.Arg584=) n.584G>C c.1710G>C (p.Arg570=) c.-103G>C (n.-103G>C) n.2384G>C | gnomAD v4 |
19 | g.1047551G>T | CA504887818 | ABCA7 | c.2166G>T (p.Arg722=) n.2846G>T c.1752G>T (p.Arg584=) n.584G>T c.1710G>T (p.Arg570=) c.-103G>T (n.-103G>T) n.2384G>T | gnomAD v4 |
19 | g.1047552C>A | CA402953316 | ABCA7 | c.2167C>A (p.Pro723Thr) n.2847C>A c.1753C>A (p.Pro585Thr) n.585C>A c.1711C>A (p.Pro571Thr) c.-102C>A (n.-102C>A) n.2385C>A | gnomAD v4 |
19 | g.1047552C= | CA2317483035 | ABCA7 | c.2167C= (p.Pro723=) n.2847C= c.1753C= (p.Pro585=) n.585C= c.1711C= (p.Pro571=) c.-102C= (n.-102C=) n.2385C= | |
19 | g.1047552C>G | CA402953320 | ABCA7 | c.2167C>G (p.Pro723Ala) n.2847C>G c.1753C>G (p.Pro585Ala) n.585C>G c.1711C>G (p.Pro571Ala) c.-102C>G (n.-102C>G) n.2385C>G | |
19 | g.1047552C>T | CA402953323 | ABCA7 | c.2167C>T (p.Pro723Ser) n.2847C>T c.1753C>T (p.Pro585Ser) n.585C>T c.1711C>T (p.Pro571Ser) c.-102C>T (n.-102C>T) n.2385C>T | dbSNP gnomAD v4 COSMIC |
19 | g.1047553C>A | CA402953330 | ABCA7 | c.2168C>A (p.Pro723His) n.2848C>A c.1754C>A (p.Pro585His) n.586C>A c.1712C>A (p.Pro571His) c.-101C>A (n.-101C>A) n.2386C>A | |
19 | g.1047553C= | CA2317483036 | ABCA7 | c.2168C= (p.Pro723=) n.2848C= c.1754C= (p.Pro585=) n.586C= c.1712C= (p.Pro571=) c.-101C= (n.-101C=) n.2386C= | |
19 | g.1047553C>G | CA402953326 | ABCA7 | c.2168C>G (p.Pro723Arg) n.2848C>G c.1754C>G (p.Pro585Arg) n.586C>G c.1712C>G (p.Pro571Arg) c.-101C>G (n.-101C>G) n.2386C>G | dbSNP gnomAD v4 |
19 | g.1047553C>T | CA402953328 | ABCA7 | c.2168C>T (p.Pro723Leu) n.2848C>T c.1754C>T (p.Pro585Leu) n.586C>T c.1712C>T (p.Pro571Leu) c.-101C>T (n.-101C>T) n.2386C>T | gnomAD v4 |
19 | g.1047554T>A | CA504887819 | ABCA7 | c.2169T>A (p.Pro723=) n.2849T>A c.1755T>A (p.Pro585=) n.587T>A c.1713T>A (p.Pro571=) c.-100T>A (n.-100T>A) n.2387T>A | gnomAD v4 |
19 | g.1047554T>C | CA504887820 | ABCA7 | c.2169T>C (p.Pro723=) n.2849T>C c.1755T>C (p.Pro585=) n.587T>C c.1713T>C (p.Pro571=) c.-100T>C (n.-100T>C) n.2387T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047554T>G | CA504887821 | ABCA7 | c.2169T>G (p.Pro723=) n.2849T>G c.1755T>G (p.Pro585=) n.587T>G c.1713T>G (p.Pro571=) c.-100T>G (n.-100T>G) n.2387T>G | gnomAD v4 |
19 | g.1047554T= | CA2317483037 | ABCA7 | c.2169T= (p.Pro723=) n.2849T= c.1755T= (p.Pro585=) n.587T= c.1713T= (p.Pro571=) c.-100T= (n.-100T=) n.2387T= | |
19 | g.1047554dup | CA2838225553 | ABCA7 | c.2169dup (p.Thr724TyrfsTer?) n.2849dup c.1755dup (p.Thr586TyrfsTer?) c.1713dup (p.Thr572TyrfsTer?) c.-100dup (n.-100dup) n.2387dup | |
19 | g.1047555A>C | CA402953333 | ABCA7 | c.2170A>C (p.Thr724Pro) n.2850A>C c.1756A>C (p.Thr586Pro) c.1714A>C (p.Thr572Pro) c.-99A>C (n.-99A>C) n.2388A>C | |
19 | g.1047555A>G | CA402953336 | ABCA7 | c.2170A>G (p.Thr724Ala) n.2850A>G c.1756A>G (p.Thr586Ala) c.1714A>G (p.Thr572Ala) c.-99A>G (n.-99A>G) n.2388A>G | |
19 | g.1047555A>T | CA402953338 | ABCA7 | c.2170A>T (p.Thr724Ser) n.2850A>T c.1756A>T (p.Thr586Ser) c.1714A>T (p.Thr572Ser) c.-99A>T (n.-99A>T) n.2388A>T | |
19 | g.1047556C>A | CA402953343 | ABCA7 | c.2171C>A (p.Thr724Lys) n.2851C>A c.1757C>A (p.Thr586Lys) c.1715C>A (p.Thr572Lys) c.-98C>A (n.-98C>A) n.2389C>A | gnomAD v4 |
19 | g.1047556C= | CA2317483038 | ABCA7 | c.2171C= (p.Thr724=) n.2851C= c.1757C= (p.Thr586=) c.1715C= (p.Thr572=) c.-98C= (n.-98C=) n.2389C= | |
19 | g.1047556C>G | CA402953348 | ABCA7 | c.2171C>G (p.Thr724Arg) n.2851C>G c.1757C>G (p.Thr586Arg) c.1715C>G (p.Thr572Arg) c.-98C>G (n.-98C>G) n.2389C>G | |
19 | g.1047556C>T | CA9033323 | ABCA7 | c.2171C>T (p.Thr724Met) n.2851C>T c.1757C>T (p.Thr586Met) c.1715C>T (p.Thr572Met) c.-98C>T (n.-98C>T) n.2389C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047557G>A | CA9033324 | ABCA7 | c.2172G>A (p.Thr724=) n.2852G>A c.1758G>A (p.Thr586=) c.1716G>A (p.Thr572=) c.-97G>A (n.-97G>A) n.2390G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047557G>C | CA504887822 | ABCA7 | c.2172G>C (p.Thr724=) n.2852G>C c.1758G>C (p.Thr586=) c.1716G>C (p.Thr572=) c.-97G>C (n.-97G>C) n.2390G>C | gnomAD v4 |
19 | g.1047557G= | CA2317483039 | ABCA7 | c.2172G= (p.Thr724=) n.2852G= c.1758G= (p.Thr586=) c.1716G= (p.Thr572=) c.-97G= (n.-97G=) n.2390G= | |
19 | g.1047557G>T | CA504887823 | ABCA7 | c.2172G>T (p.Thr724=) n.2852G>T c.1758G>T (p.Thr586=) c.1716G>T (p.Thr572=) c.-97G>T (n.-97G>T) n.2390G>T | gnomAD v4 |
19 | g.1047558G>A | CA9033325 | ABCA7 | c.2173G>A (p.Ala725Thr) n.2853G>A c.1759G>A (p.Ala587Thr) c.1717G>A (p.Ala573Thr) c.-96G>A (n.-96G>A) n.2391G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047558G>C | CA402953360 | ABCA7 | c.2173G>C (p.Ala725Pro) n.2853G>C c.1759G>C (p.Ala587Pro) c.1717G>C (p.Ala573Pro) c.-96G>C (n.-96G>C) n.2391G>C | |
19 | g.1047558G= | CA2317483040 | ABCA7 | c.2173G= (p.Ala725=) n.2853G= c.1759G= (p.Ala587=) c.1717G= (p.Ala573=) c.-96G= (n.-96G=) n.2391G= | |
19 | g.1047558G>T | CA402953364 | ABCA7 | c.2173G>T (p.Ala725Ser) n.2853G>T c.1759G>T (p.Ala587Ser) c.1717G>T (p.Ala573Ser) c.-96G>T (n.-96G>T) n.2391G>T | gnomAD v4 |
19 | g.1047559C>A | CA402953370 | ABCA7 | c.2174C>A (p.Ala725Glu) n.2854C>A c.1760C>A (p.Ala587Glu) c.1718C>A (p.Ala573Glu) c.-95C>A (n.-95C>A) n.2392C>A | |
19 | g.1047559C>G | CA402953371 | ABCA7 | c.2174C>G (p.Ala725Gly) n.2854C>G c.1760C>G (p.Ala587Gly) c.1718C>G (p.Ala573Gly) c.-95C>G (n.-95C>G) n.2392C>G | |
19 | g.1047559C>T | CA402953376 | ABCA7 | c.2174C>T (p.Ala725Val) n.2854C>T c.1760C>T (p.Ala587Val) c.1718C>T (p.Ala573Val) c.-95C>T (n.-95C>T) n.2392C>T | gnomAD v4 |
19 | g.1047560A>C | CA504887828 | ABCA7 | c.2175A>C (p.Ala725=) n.2855A>C c.1761A>C (p.Ala587=) c.1719A>C (p.Ala573=) c.-94A>C (n.-94A>C) n.2393A>C | gnomAD v4 |
19 | g.1047560A>G | CA504887825 | ABCA7 | c.2175A>G (p.Ala725=) n.2855A>G c.1761A>G (p.Ala587=) c.1719A>G (p.Ala573=) c.-94A>G (n.-94A>G) n.2393A>G | |
19 | g.1047560A>T | CA504887824 | ABCA7 | c.2175A>T (p.Ala725=) n.2855A>T c.1761A>T (p.Ala587=) c.1719A>T (p.Ala573=) c.-94A>T (n.-94A>T) n.2393A>T | |
19 | g.1047561G>A | CA402953380 | ABCA7 | c.2176G>A (p.Asp726Asn) n.2856G>A c.1762G>A (p.Asp588Asn) c.1720G>A (p.Asp574Asn) c.-93G>A (n.-93G>A) n.2394G>A | |
19 | g.1047561G>C | CA402953386 | ABCA7 | c.2176G>C (p.Asp726His) n.2856G>C c.1762G>C (p.Asp588His) c.1720G>C (p.Asp574His) c.-93G>C (n.-93G>C) n.2394G>C | |
19 | g.1047561G= | CA2317483041 | ABCA7 | c.2176G= (p.Asp726=) n.2856G= c.1762G= (p.Asp588=) c.1720G= (p.Asp574=) c.-93G= (n.-93G=) n.2394G= | |
19 | g.1047561G>T | CA9033326 | ABCA7 | c.2176G>T (p.Asp726Tyr) n.2856G>T c.1762G>T (p.Asp588Tyr) c.1720G>T (p.Asp574Tyr) c.-93G>T (n.-93G>T) n.2394G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047562A>C | CA402953391 | ABCA7 | c.2177A>C (p.Asp726Ala) n.2857A>C c.1763A>C (p.Asp588Ala) c.1721A>C (p.Asp574Ala) c.-92A>C (n.-92A>C) n.2395A>C | |
19 | g.1047562A>G | CA402953394 | ABCA7 | c.2177A>G (p.Asp726Gly) n.2857A>G c.1763A>G (p.Asp588Gly) c.1721A>G (p.Asp574Gly) c.-92A>G (n.-92A>G) n.2395A>G | gnomAD v4 |
19 | g.1047562A>T | CA402953398 | ABCA7 | c.2177A>T (p.Asp726Val) n.2857A>T c.1763A>T (p.Asp588Val) c.1721A>T (p.Asp574Val) c.-92A>T (n.-92A>T) n.2395A>T | |
19 | g.1047563C>A | CA402953402 | ABCA7 | c.2178C>A (p.Asp726Glu) n.2858C>A c.1764C>A (p.Asp588Glu) c.1722C>A (p.Asp574Glu) c.-91C>A (n.-91C>A) n.2396C>A | |
19 | g.1047563C>G | CA402953407 | ABCA7 | c.2178C>G (p.Asp726Glu) n.2858C>G c.1764C>G (p.Asp588Glu) c.1722C>G (p.Asp574Glu) c.-91C>G (n.-91C>G) n.2396C>G | |
19 | g.1047563C>T | CA504887830 | ABCA7 | c.2178C>T (p.Asp726=) n.2858C>T c.1764C>T (p.Asp588=) c.1722C>T (p.Asp574=) c.-91C>T (n.-91C>T) n.2396C>T | gnomAD v4 |
19 | g.1047564G>A | CA402953412 | ABCA7 | c.2179G>A (p.Val727Ile) n.2859G>A c.1765G>A (p.Val589Ile) c.1723G>A (p.Val575Ile) c.-90G>A (n.-90G>A) n.2397G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047564G>C | CA402953416 | ABCA7 | c.2179G>C (p.Val727Leu) n.2859G>C c.1765G>C (p.Val589Leu) c.1723G>C (p.Val575Leu) c.-90G>C (n.-90G>C) n.2397G>C | gnomAD v4 |
19 | g.1047564G= | CA2317483042 | ABCA7 | c.2179G= (p.Val727=) n.2859G= c.1765G= (p.Val589=) c.1723G= (p.Val575=) c.-90G= (n.-90G=) n.2397G= | |
19 | g.1047564G>T | CA402953418 | ABCA7 | c.2179G>T (p.Val727Phe) n.2859G>T c.1765G>T (p.Val589Phe) c.1723G>T (p.Val575Phe) c.-90G>T (n.-90G>T) n.2397G>T | gnomAD v4 |
19 | g.1047565T>A | CA402953422 | ABCA7 | c.2180T>A (p.Val727Asp) n.2860T>A c.1766T>A (p.Val589Asp) c.1724T>A (p.Val575Asp) c.-89T>A (n.-89T>A) n.2398T>A | |
19 | g.1047565T>C | CA402953427 | ABCA7 | c.2180T>C (p.Val727Ala) n.2860T>C c.1766T>C (p.Val589Ala) c.1724T>C (p.Val575Ala) c.-89T>C (n.-89T>C) n.2398T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047565T>G | CA402953430 | ABCA7 | c.2180T>G (p.Val727Gly) n.2860T>G c.1766T>G (p.Val589Gly) c.1724T>G (p.Val575Gly) c.-89T>G (n.-89T>G) n.2398T>G | |
19 | g.1047565T= | CA2317483043 | ABCA7 | c.2180T= (p.Val727=) n.2860T= c.1766T= (p.Val589=) c.1724T= (p.Val575=) c.-89T= (n.-89T=) n.2398T= | |
19 | g.1047566C>A | CA504887835 | ABCA7 | c.2181C>A (p.Val727=) n.2861C>A c.1767C>A (p.Val589=) c.-111C>A (n.-111C>A) c.1725C>A (p.Val575=) c.-88C>A (n.-88C>A) n.2399C>A | |
19 | g.1047566C= | CA2317483044 | ABCA7 | c.2181C= (p.Val727=) n.2861C= c.1767C= (p.Val589=) c.-111C= (n.-111C=) c.1725C= (p.Val575=) c.-88C= (n.-88C=) n.2399C= | |
19 | g.1047566C>G | CA504887837 | ABCA7 | c.2181C>G (p.Val727=) n.2861C>G c.1767C>G (p.Val589=) c.-111C>G (n.-111C>G) c.1725C>G (p.Val575=) c.-88C>G (n.-88C>G) n.2399C>G | |
19 | g.1047566C>T | CA504887836 | ABCA7 | c.2181C>T (p.Val727=) n.2861C>T c.1767C>T (p.Val589=) c.-111C>T (n.-111C>T) c.1725C>T (p.Val575=) c.-88C>T (n.-88C>T) n.2399C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047567T>A | CA402953440 | ABCA7 | c.2182T>A (p.Phe728Ile) n.2862T>A c.1768T>A (p.Phe590Ile) c.-110T>A (n.-110T>A) c.1726T>A (p.Phe576Ile) c.-87T>A (n.-87T>A) n.2400T>A | |
19 | g.1047567T>C | CA402953437 | ABCA7 | c.2182T>C (p.Phe728Leu) n.2862T>C c.1768T>C (p.Phe590Leu) c.-110T>C (n.-110T>C) c.1726T>C (p.Phe576Leu) c.-87T>C (n.-87T>C) n.2400T>C | gnomAD v4 |
19 | g.1047567T>G | CA402953435 | ABCA7 | c.2182T>G (p.Phe728Val) n.2862T>G c.1768T>G (p.Phe590Val) c.-110T>G (n.-110T>G) c.1726T>G (p.Phe576Val) c.-87T>G (n.-87T>G) n.2400T>G | gnomAD v4 |
19 | g.1047568T>A | CA402953452 | ABCA7 | c.2183T>A (p.Phe728Tyr) n.2863T>A c.1769T>A (p.Phe590Tyr) c.-109T>A (n.-109T>A) c.1727T>A (p.Phe576Tyr) c.-86T>A (n.-86T>A) n.2401T>A | |
19 | g.1047568T>C | CA402953455 | ABCA7 | c.2183T>C (p.Phe728Ser) n.2863T>C c.1769T>C (p.Phe590Ser) c.-109T>C (n.-109T>C) c.1727T>C (p.Phe576Ser) c.-86T>C (n.-86T>C) n.2401T>C | |
19 | g.1047568T>G | CA402953459 | ABCA7 | c.2183T>G (p.Phe728Cys) n.2863T>G c.1769T>G (p.Phe590Cys) c.-109T>G (n.-109T>G) c.1727T>G (p.Phe576Cys) c.-86T>G (n.-86T>G) n.2401T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047568T= | CA2317483045 | ABCA7 | c.2183T= (p.Phe728=) n.2863T= c.1769T= (p.Phe590=) c.-109T= (n.-109T=) c.1727T= (p.Phe576=) c.-86T= (n.-86T=) n.2401T= | |
19 | g.1047569C>A | CA402953465 | ABCA7 | c.2184C>A (p.Phe728Leu) n.2864C>A c.1770C>A (p.Phe590Leu) c.-108C>A (n.-108C>A) c.1728C>A (p.Phe576Leu) c.-85C>A (n.-85C>A) n.2402C>A | dbSNP |
19 | g.1047569C= | CA2317483046 | ABCA7 | c.2184C= (p.Phe728=) n.2864C= c.1770C= (p.Phe590=) c.-108C= (n.-108C=) c.1728C= (p.Phe576=) c.-85C= (n.-85C=) n.2402C= | |
19 | g.1047569C>G | CA402953468 | ABCA7 | c.2184C>G (p.Phe728Leu) n.2864C>G c.1770C>G (p.Phe590Leu) c.-108C>G (n.-108C>G) c.1728C>G (p.Phe576Leu) c.-85C>G (n.-85C>G) n.2402C>G | |
19 | g.1047569C>T | CA504887841 | ABCA7 | c.2184C>T (p.Phe728=) n.2864C>T c.1770C>T (p.Phe590=) c.-108C>T (n.-108C>T) c.1728C>T (p.Phe576=) c.-85C>T (n.-85C>T) n.2402C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047570A>C | CA402953473 | ABCA7 | c.2185A>C (p.Ser729Arg) n.2865A>C c.1771A>C (p.Ser591Arg) c.-107A>C (n.-107A>C) c.1729A>C (p.Ser577Arg) c.-84A>C (n.-84A>C) n.2403A>C | gnomAD v4 |
19 | g.1047570A>G | CA402953477 | ABCA7 | c.2185A>G (p.Ser729Gly) n.2865A>G c.1771A>G (p.Ser591Gly) c.-107A>G (n.-107A>G) c.1729A>G (p.Ser577Gly) c.-84A>G (n.-84A>G) n.2403A>G | gnomAD v4 |
19 | g.1047570A>T | CA402953480 | ABCA7 | c.2185A>T (p.Ser729Cys) n.2865A>T c.1771A>T (p.Ser591Cys) c.-107A>T (n.-107A>T) c.1729A>T (p.Ser577Cys) c.-84A>T (n.-84A>T) n.2403A>T | |
19 | g.1047571G>A | CA402953484 | ABCA7 | c.2186G>A (p.Ser729Asn) n.2866G>A c.1772G>A (p.Ser591Asn) c.-106G>A (n.-106G>A) c.1730G>A (p.Ser577Asn) c.-83G>A (n.-83G>A) n.2404G>A | |
19 | g.1047571G>C | CA402953491 | ABCA7 | c.2186G>C (p.Ser729Thr) n.2866G>C c.1772G>C (p.Ser591Thr) c.-106G>C (n.-106G>C) c.1730G>C (p.Ser577Thr) c.-83G>C (n.-83G>C) n.2404G>C | |
19 | g.1047571G= | CA2317483047 | ABCA7 | c.2186G= (p.Ser729=) n.2866G= c.1772G= (p.Ser591=) c.-106G= (n.-106G=) c.1730G= (p.Ser577=) c.-83G= (n.-83G=) n.2404G= | |
19 | g.1047571G>T | CA402953500 | ABCA7 | c.2186G>T (p.Ser729Ile) n.2866G>T c.1772G>T (p.Ser591Ile) c.-106G>T (n.-106G>T) c.1730G>T (p.Ser577Ile) c.-83G>T (n.-83G>T) n.2404G>T | dbSNP gnomAD v4 |
19 | g.1047572C>A | CA402953510 | ABCA7 | c.2187C>A (p.Ser729Arg) n.2867C>A c.1773C>A (p.Ser591Arg) c.-105C>A (n.-105C>A) c.1731C>A (p.Ser577Arg) c.-82C>A (n.-82C>A) n.2405C>A | |
19 | g.1047572C>G | CA402953521 | ABCA7 | c.2187C>G (p.Ser729Arg) n.2867C>G c.1773C>G (p.Ser591Arg) c.-105C>G (n.-105C>G) c.1731C>G (p.Ser577Arg) c.-82C>G (n.-82C>G) n.2405C>G | |
19 | g.1047572C>T | CA504887842 | ABCA7 | c.2187C>T (p.Ser729=) n.2867C>T c.1773C>T (p.Ser591=) c.-105C>T (n.-105C>T) c.1731C>T (p.Ser577=) c.-82C>T (n.-82C>T) n.2405C>T | gnomAD v4 |
19 | g.1047573dup | CA2841534648 | ABCA7 | c.2188dup (p.Leu730ProfsTer?) n.2868dup c.1774dup (p.Leu592ProfsTer?) c.-104dup (n.-104dup) c.1732dup (p.Leu578ProfsTer?) c.-81dup (n.-81dup) n.2406dup | |
19 | g.1047573C>A | CA402953525 | ABCA7 | c.2188C>A (p.Leu730Met) n.2868C>A c.1774C>A (p.Leu592Met) c.-104C>A (n.-104C>A) c.1732C>A (p.Leu578Met) c.-81C>A (n.-81C>A) n.2406C>A | gnomAD v4 |
19 | g.1047573C>G | CA402953528 | ABCA7 | c.2188C>G (p.Leu730Val) n.2868C>G c.1774C>G (p.Leu592Val) c.-104C>G (n.-104C>G) c.1732C>G (p.Leu578Val) c.-81C>G (n.-81C>G) n.2406C>G | |
19 | g.1047573C>T | CA504887844 | ABCA7 | c.2188C>T (p.Leu730=) n.2868C>T c.1774C>T (p.Leu592=) c.-104C>T (n.-104C>T) c.1732C>T (p.Leu578=) c.-81C>T (n.-81C>T) n.2406C>T | |
19 | g.1047574T>A | CA402953529 | ABCA7 | c.2189T>A (p.Leu730Gln) n.2869T>A c.1775T>A (p.Leu592Gln) c.-103T>A (n.-103T>A) c.1733T>A (p.Leu578Gln) c.-80T>A (n.-80T>A) n.2407T>A | |
19 | g.1047574T>C | CA402953531 | ABCA7 | c.2189T>C (p.Leu730Pro) n.2869T>C c.1775T>C (p.Leu592Pro) c.-103T>C (n.-103T>C) c.1733T>C (p.Leu578Pro) c.-80T>C (n.-80T>C) n.2407T>C | gnomAD v4 |
19 | g.1047574T>G | CA402953530 | ABCA7 | c.2189T>G (p.Leu730Arg) n.2869T>G c.1775T>G (p.Leu592Arg) c.-103T>G (n.-103T>G) c.1733T>G (p.Leu578Arg) c.-80T>G (n.-80T>G) n.2407T>G | |
19 | g.1047575G>A | CA504887845 | ABCA7 | c.2190G>A (p.Leu730=) n.2870G>A c.1776G>A (p.Leu592=) c.-102G>A (n.-102G>A) c.1734G>A (p.Leu578=) c.-79G>A (n.-79G>A) n.2408G>A | |
19 | g.1047575G>C | CA504887846 | ABCA7 | c.2190G>C (p.Leu730=) n.2870G>C c.1776G>C (p.Leu592=) c.-102G>C (n.-102G>C) c.1734G>C (p.Leu578=) c.-79G>C (n.-79G>C) n.2408G>C | dbSNP gnomAD v4 |
19 | g.1047575G>T | CA504887847 | ABCA7 | c.2190G>T (p.Leu730=) n.2870G>T c.1776G>T (p.Leu592=) c.-102G>T (n.-102G>T) c.1734G>T (p.Leu578=) c.-79G>T (n.-79G>T) n.2408G>T | gnomAD v4 |
19 | g.1047576G>A | CA303996080 | ABCA7 | c.2191G>A (p.Ala731Thr) n.2871G>A c.1777G>A (p.Ala593Thr) c.-101G>A (n.-101G>A) c.1735G>A (p.Ala579Thr) c.-78G>A (n.-78G>A) n.2409G>A | dbSNP gnomAD v4 |
19 | g.1047576G>C | CA402953538 | ABCA7 | c.2191G>C (p.Ala731Pro) n.2871G>C c.1777G>C (p.Ala593Pro) c.-101G>C (n.-101G>C) c.1735G>C (p.Ala579Pro) c.-78G>C (n.-78G>C) n.2409G>C | |
19 | g.1047576G= | CA2317483048 | ABCA7 | c.2191G= (p.Ala731=) n.2871G= c.1777G= (p.Ala593=) c.-101G= (n.-101G=) c.1735G= (p.Ala579=) c.-78G= (n.-78G=) n.2409G= | |
19 | g.1047576G>T | CA402953542 | ABCA7 | c.2191G>T (p.Ala731Ser) n.2871G>T c.1777G>T (p.Ala593Ser) c.-101G>T (n.-101G>T) c.1735G>T (p.Ala579Ser) c.-78G>T (n.-78G>T) n.2409G>T | gnomAD v4 |
19 | g.1047577C>A | CA402953546 | ABCA7 | c.2192C>A (p.Ala731Asp) n.2872C>A c.1778C>A (p.Ala593Asp) c.-100C>A (n.-100C>A) c.1736C>A (p.Ala579Asp) c.-77C>A (n.-77C>A) n.2410C>A | gnomAD v4 |
19 | g.1047577C= | CA2317483049 | ABCA7 | c.2192C= (p.Ala731=) n.2872C= c.1778C= (p.Ala593=) c.-100C= (n.-100C=) c.1736C= (p.Ala579=) c.-77C= (n.-77C=) n.2410C= | |
19 | g.1047577C>G | CA402953547 | ABCA7 | c.2192C>G (p.Ala731Gly) n.2872C>G c.1778C>G (p.Ala593Gly) c.-100C>G (n.-100C>G) c.1736C>G (p.Ala579Gly) c.-77C>G (n.-77C>G) n.2410C>G | |
19 | g.1047577C>T | CA9033327 | ABCA7 | c.2192C>T (p.Ala731Val) n.2872C>T c.1778C>T (p.Ala593Val) c.-100C>T (n.-100C>T) c.1736C>T (p.Ala579Val) c.-77C>T (n.-77C>T) n.2410C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047579del | CA2588185627 | ABCA7 | c.2194del (p.Gln732ArgfsTer?) n.2874del c.1780del (p.Gln594ArgfsTer?) c.-98del (n.-98del) c.1738del (p.Gln580ArgfsTer?) c.-75del (n.-75del) n.2412del | gnomAD v4 |
19 | g.1047578_1047579del | CA2588185628 | ABCA7 | c.2193_2194del (p.Gln732GlyfsTer?) n.2873_2874del c.1779_1780del (p.Gln594GlyfsTer?) c.-99_-98del (n.-99_-98del) c.1737_1738del (p.Gln580GlyfsTer?) c.-76_-75del (n.-76_-75del) n.2411_2412del | gnomAD v4 |
19 | g.1047578C>A | CA504887852 | ABCA7 | c.2193C>A (p.Ala731=) n.2873C>A c.1779C>A (p.Ala593=) c.-99C>A (n.-99C>A) c.1737C>A (p.Ala579=) c.-76C>A (n.-76C>A) n.2411C>A | gnomAD v4 |
19 | g.1047578C= | CA2317483050 | ABCA7 | c.2193C= (p.Ala731=) n.2873C= c.1779C= (p.Ala593=) c.-99C= (n.-99C=) c.1737C= (p.Ala579=) c.-76C= (n.-76C=) n.2411C= | |
19 | g.1047578C>G | CA504887853 | ABCA7 | c.2193C>G (p.Ala731=) n.2873C>G c.1779C>G (p.Ala593=) c.-99C>G (n.-99C>G) c.1737C>G (p.Ala579=) c.-76C>G (n.-76C>G) n.2411C>G | |
19 | g.1047578C>T | CA504887854 | ABCA7 | c.2193C>T (p.Ala731=) n.2873C>T c.1779C>T (p.Ala593=) c.-99C>T (n.-99C>T) c.1737C>T (p.Ala579=) c.-76C>T (n.-76C>T) n.2411C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047579C>A | CA402953550 | ABCA7 | c.2194C>A (p.Gln732Lys) n.2874C>A c.1780C>A (p.Gln594Lys) c.-98C>A (n.-98C>A) c.1738C>A (p.Gln580Lys) c.-75C>A (n.-75C>A) n.2412C>A | |
19 | g.1047579C= | CA2317483051 | ABCA7 | c.2194C= (p.Gln732=) n.2874C= c.1780C= (p.Gln594=) c.-98C= (n.-98C=) c.1738C= (p.Gln580=) c.-75C= (n.-75C=) n.2412C= | |
19 | g.1047579C>G | CA402953553 | ABCA7 | c.2194C>G (p.Gln732Glu) n.2874C>G c.1780C>G (p.Gln594Glu) c.-98C>G (n.-98C>G) c.1738C>G (p.Gln580Glu) c.-75C>G (n.-75C>G) n.2412C>G | |
19 | g.1047579C>T | CA303996087 | ABCA7 | c.2194C>T (p.Gln732Ter) n.2874C>T c.1780C>T (p.Gln594Ter) c.-98C>T (n.-98C>T) c.1738C>T (p.Gln580Ter) c.-75C>T (n.-75C>T) n.2412C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047580A= | CA2317483052 | ABCA7 | c.2195A= (p.Gln732=) n.2875A= c.1781A= (p.Gln594=) c.-97A= (n.-97A=) c.1739A= (p.Gln580=) c.-74A= (n.-74A=) n.2413A= | |
19 | g.1047580A>C | CA402953562 | ABCA7 | c.2195A>C (p.Gln732Pro) n.2875A>C c.1781A>C (p.Gln594Pro) c.-97A>C (n.-97A>C) c.1739A>C (p.Gln580Pro) c.-74A>C (n.-74A>C) n.2413A>C | |
19 | g.1047580A>G | CA402953565 | ABCA7 | c.2195A>G (p.Gln732Arg) n.2875A>G c.1781A>G (p.Gln594Arg) c.-97A>G (n.-97A>G) c.1739A>G (p.Gln580Arg) c.-74A>G (n.-74A>G) n.2413A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047580A>T | CA402953569 | ABCA7 | c.2195A>T (p.Gln732Leu) n.2875A>T c.1781A>T (p.Gln594Leu) c.-97A>T (n.-97A>T) c.1739A>T (p.Gln580Leu) c.-74A>T (n.-74A>T) n.2413A>T | |
19 | g.1047581G>A | CA9033328 | ABCA7 | c.2196G>A (p.Gln732=) n.2876G>A c.1782G>A (p.Gln594=) c.-96G>A (n.-96G>A) c.1740G>A (p.Gln580=) c.-73G>A (n.-73G>A) n.2414G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047581G>C | CA402953572 | ABCA7 | c.2196G>C (p.Gln732His) n.2876G>C c.1782G>C (p.Gln594His) c.-96G>C (n.-96G>C) c.1740G>C (p.Gln580His) c.-73G>C (n.-73G>C) n.2414G>C | |
19 | g.1047581G= | CA2317483053 | ABCA7 | c.2196G= (p.Gln732=) n.2876G= c.1782G= (p.Gln594=) c.-96G= (n.-96G=) c.1740G= (p.Gln580=) c.-73G= (n.-73G=) n.2414G= | |
19 | g.1047581G>T | CA402953580 | ABCA7 | c.2196G>T (p.Gln732His) n.2876G>T c.1782G>T (p.Gln594His) c.-96G>T (n.-96G>T) c.1740G>T (p.Gln580His) c.-73G>T (n.-73G>T) n.2414G>T | gnomAD v4 |
19 | g.1047582G>A | CA402953585 | ABCA7 | c.2197G>A (p.Val733Ile) n.2877G>A c.1783G>A (p.Val595Ile) c.-95G>A (n.-95G>A) c.1741G>A (p.Val581Ile) c.-72G>A (n.-72G>A) n.2415G>A | gnomAD v4 |
19 | g.1047582G>C | CA402953586 | ABCA7 | c.2197G>C (p.Val733Leu) n.2877G>C c.1783G>C (p.Val595Leu) c.-95G>C (n.-95G>C) c.1741G>C (p.Val581Leu) c.-72G>C (n.-72G>C) n.2415G>C | |
19 | g.1047582G>T | CA402953589 | ABCA7 | c.2197G>T (p.Val733Phe) n.2877G>T c.1783G>T (p.Val595Phe) c.-95G>T (n.-95G>T) c.1741G>T (p.Val581Phe) c.-72G>T (n.-72G>T) n.2415G>T | gnomAD v4 |
19 | g.1047583T>A | CA402953594 | ABCA7 | c.2198T>A (p.Val733Asp) n.2878T>A c.1784T>A (p.Val595Asp) c.-94T>A (n.-94T>A) c.1742T>A (p.Val581Asp) c.-71T>A (n.-71T>A) n.2416T>A | gnomAD v4 |
19 | g.1047583T>C | CA303996114 | ABCA7 | c.2198T>C (p.Val733Ala) n.2878T>C c.1784T>C (p.Val595Ala) c.-94T>C (n.-94T>C) c.1742T>C (p.Val581Ala) c.-71T>C (n.-71T>C) n.2416T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047583T>G | CA402953596 | ABCA7 | c.2198T>G (p.Val733Gly) n.2878T>G c.1784T>G (p.Val595Gly) c.-94T>G (n.-94T>G) c.1742T>G (p.Val581Gly) c.-71T>G (n.-71T>G) n.2416T>G | |
19 | g.1047583T= | CA2317483054 | ABCA7 | c.2198T= (p.Val733=) n.2878T= c.1784T= (p.Val595=) c.-94T= (n.-94T=) c.1742T= (p.Val581=) c.-71T= (n.-71T=) n.2416T= | |
19 | g.1047586_1047587dup | CA2588185629 | ABCA7 | c.2201_2202dup (p.Gly735LeufsTer?) n.2881_2882dup c.1787_1788dup (p.Gly597LeufsTer?) c.-91_-90dup (n.-91_-90dup) c.1745_1746dup (p.Gly583LeufsTer?) c.-68_-67dup (n.-68_-67dup) n.2419_2420dup | gnomAD v4 |
19 | g.1047584C>A | CA504887858 | ABCA7 | c.2199C>A (p.Val733=) n.2879C>A c.1785C>A (p.Val595=) c.-93C>A (n.-93C>A) c.1743C>A (p.Val581=) c.-70C>A (n.-70C>A) n.2417C>A | gnomAD v4 |
19 | g.1047584C= | CA2317483055 | ABCA7 | c.2199C= (p.Val733=) n.2879C= c.1785C= (p.Val595=) c.-93C= (n.-93C=) c.1743C= (p.Val581=) c.-70C= (n.-70C=) n.2417C= | |
19 | g.1047584C>G | CA504887859 | ABCA7 | c.2199C>G (p.Val733=) n.2879C>G c.1785C>G (p.Val595=) c.-93C>G (n.-93C>G) c.1743C>G (p.Val581=) c.-70C>G (n.-70C>G) n.2417C>G | dbSNP gnomAD v4 |
19 | g.1047584C>T | CA504887860 | ABCA7 | c.2199C>T (p.Val733=) n.2879C>T c.1785C>T (p.Val595=) c.-93C>T (n.-93C>T) c.1743C>T (p.Val581=) c.-70C>T (n.-70C>T) n.2417C>T | dbSNP gnomAD v4 |
19 | g.1047585T>A | CA402953601 | ABCA7 | c.2200T>A (p.Ser734Thr) n.2880T>A c.1786T>A (p.Ser596Thr) c.-92T>A (n.-92T>A) c.1744T>A (p.Ser582Thr) c.-69T>A (n.-69T>A) n.2418T>A | |
19 | g.1047585T>C | CA402953604 | ABCA7 | c.2200T>C (p.Ser734Pro) n.2880T>C c.1786T>C (p.Ser596Pro) c.-92T>C (n.-92T>C) c.1744T>C (p.Ser582Pro) c.-69T>C (n.-69T>C) n.2418T>C | |
19 | g.1047585T>G | CA402953612 | ABCA7 | c.2200T>G (p.Ser734Ala) n.2880T>G c.1786T>G (p.Ser596Ala) c.-92T>G (n.-92T>G) c.1744T>G (p.Ser582Ala) c.-69T>G (n.-69T>G) n.2418T>G | |
19 | g.1047586C>A | CA402953615 | ABCA7 | c.2201C>A (p.Ser734Tyr) n.2881C>A c.1787C>A (p.Ser596Tyr) c.-91C>A (n.-91C>A) c.1745C>A (p.Ser582Tyr) c.-68C>A (n.-68C>A) n.2419C>A | gnomAD v4 |
19 | g.1047586C>G | CA402953616 | ABCA7 | c.2201C>G (p.Ser734Cys) n.2881C>G c.1787C>G (p.Ser596Cys) c.-91C>G (n.-91C>G) c.1745C>G (p.Ser582Cys) c.-68C>G (n.-68C>G) n.2419C>G | |
19 | g.1047586C>T | CA402953619 | ABCA7 | c.2201C>T (p.Ser734Phe) n.2881C>T c.1787C>T (p.Ser596Phe) c.-91C>T (n.-91C>T) c.1745C>T (p.Ser582Phe) c.-68C>T (n.-68C>T) n.2419C>T | |
19 | g.1047587T>A | CA504887863 | ABCA7 | c.2202T>A (p.Ser734=) n.2882T>A c.1788T>A (p.Ser596=) c.-90T>A (n.-90T>A) c.1746T>A (p.Ser582=) c.-67T>A (n.-67T>A) n.2420T>A | |
19 | g.1047587T>C | CA9033329 | ABCA7 | c.2202T>C (p.Ser734=) n.2882T>C c.1788T>C (p.Ser596=) c.-90T>C (n.-90T>C) c.1746T>C (p.Ser582=) c.-67T>C (n.-67T>C) n.2420T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047587T>G | CA504887862 | ABCA7 | c.2202T>G (p.Ser734=) n.2882T>G c.1788T>G (p.Ser596=) c.-90T>G (n.-90T>G) c.1746T>G (p.Ser582=) c.-67T>G (n.-67T>G) n.2420T>G | |
19 | g.1047587T= | CA2317483056 | ABCA7 | c.2202T= (p.Ser734=) n.2882T= c.1788T= (p.Ser596=) c.-90T= (n.-90T=) c.1746T= (p.Ser582=) c.-67T= (n.-67T=) n.2420T= | |
19 | g.1047588G>A | CA402953632 | ABCA7 | c.2203G>A (p.Gly735Ser) n.2883G>A c.1789G>A (p.Gly597Ser) c.-89G>A (n.-89G>A) c.1747G>A (p.Gly583Ser) c.-66G>A (n.-66G>A) n.2421G>A | |
19 | g.1047588G>C | CA9033330 | ABCA7 | c.2203G>C (p.Gly735Arg) n.2883G>C c.1789G>C (p.Gly597Arg) c.-89G>C (n.-89G>C) c.1747G>C (p.Gly583Arg) c.-66G>C (n.-66G>C) n.2421G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047588G= | CA2317483057 | ABCA7 | c.2203G= (p.Gly735=) n.2883G= c.1789G= (p.Gly597=) c.-89G= (n.-89G=) c.1747G= (p.Gly583=) c.-66G= (n.-66G=) n.2421G= | |
19 | g.1047588G>T | CA402953629 | ABCA7 | c.2203G>T (p.Gly735Cys) n.2883G>T c.1789G>T (p.Gly597Cys) c.-89G>T (n.-89G>T) c.1747G>T (p.Gly583Cys) c.-66G>T (n.-66G>T) n.2421G>T | gnomAD v4 |
19 | g.1047589G>A | CA402953636 | ABCA7 | c.2204G>A (p.Gly735Asp) n.2884G>A c.1790G>A (p.Gly597Asp) c.-88G>A (n.-88G>A) c.1748G>A (p.Gly583Asp) c.-65G>A (n.-65G>A) n.2422G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047589G>C | CA402953640 | ABCA7 | c.2204G>C (p.Gly735Ala) n.2884G>C c.1790G>C (p.Gly597Ala) c.-88G>C (n.-88G>C) c.1748G>C (p.Gly583Ala) c.-65G>C (n.-65G>C) n.2422G>C | |
19 | g.1047589G= | CA2317483058 | ABCA7 | c.2204G= (p.Gly735=) n.2884G= c.1790G= (p.Gly597=) c.-88G= (n.-88G=) c.1748G= (p.Gly583=) c.-65G= (n.-65G=) n.2422G= | |
19 | g.1047589G>T | CA402953642 | ABCA7 | c.2204G>T (p.Gly735Val) n.2884G>T c.1790G>T (p.Gly597Val) c.-88G>T (n.-88G>T) c.1748G>T (p.Gly583Val) c.-65G>T (n.-65G>T) n.2422G>T | gnomAD v4 |
19 | g.1047590C>A | CA504887868 | ABCA7 | c.2205C>A (p.Gly735=) n.2885C>A c.1791C>A (p.Gly597=) c.-87C>A (n.-87C>A) c.1749C>A (p.Gly583=) c.-64C>A (n.-64C>A) n.2423C>A | gnomAD v4 |
19 | g.1047590C= | CA2317483059 | ABCA7 | c.2205C= (p.Gly735=) n.2885C= c.1791C= (p.Gly597=) c.-87C= (n.-87C=) c.1749C= (p.Gly583=) c.-64C= (n.-64C=) n.2423C= | |
19 | g.1047590C>G | CA303996139 | ABCA7 | c.2205C>G (p.Gly735=) n.2885C>G c.1791C>G (p.Gly597=) c.-87C>G (n.-87C>G) c.1749C>G (p.Gly583=) c.-64C>G (n.-64C>G) n.2423C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047590C>T | CA504887867 | ABCA7 | c.2205C>T (p.Gly735=) n.2885C>T c.1791C>T (p.Gly597=) c.-87C>T (n.-87C>T) c.1749C>T (p.Gly583=) c.-64C>T (n.-64C>T) n.2423C>T | gnomAD v4 |
19 | g.1047590_1047593delinsCCTT | CA2317483060 | ABCA7 | c.2205_2208delinsCCTT (p.Gly735=) n.2885_2888delinsCCTT c.1791_1794delinsCCTT (p.Gly597=) c.-87_-84delinsCCTT (n.-87_-84delinsCCTT) c.1749_1752delinsCCTT (p.Gly583=) c.-64_-61delinsCCTT (n.-64_-61delinsCCTT) n.2423_2426delinsCCTT | |
19 | g.1047591C>A | CA402953648 | ABCA7 | c.2206C>A (p.Leu736Ile) n.2886C>A c.1792C>A (p.Leu598Ile) c.-86C>A (n.-86C>A) c.1750C>A (p.Leu584Ile) c.-63C>A (n.-63C>A) n.2424C>A | |
19 | g.1047591C>G | CA402953652 | ABCA7 | c.2206C>G (p.Leu736Val) n.2886C>G c.1792C>G (p.Leu598Val) c.-86C>G (n.-86C>G) c.1750C>G (p.Leu584Val) c.-63C>G (n.-63C>G) n.2424C>G | |
19 | g.1047591C>T | CA402953656 | ABCA7 | c.2206C>T (p.Leu736Phe) n.2886C>T c.1792C>T (p.Leu598Phe) c.-86C>T (n.-86C>T) c.1750C>T (p.Leu584Phe) c.-63C>T (n.-63C>T) n.2424C>T | gnomAD v4 |
19 | g.1047593_1047595del | CA783177833 | ABCA7 | c.2208_2210del (p.Leu737del) n.2888_2890del c.1794_1796del (p.Leu599del) c.-84_-82del (n.-84_-82del) c.1752_1754del (p.Leu585del) c.-61_-59del (n.-61_-59del) n.2426_2428del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047592T>A | CA402953662 | ABCA7 | c.2207T>A (p.Leu736His) n.2887T>A c.1793T>A (p.Leu598His) c.-85T>A (n.-85T>A) c.1751T>A (p.Leu584His) c.-62T>A (n.-62T>A) n.2425T>A | |
19 | g.1047592T>C | CA402953669 | ABCA7 | c.2207T>C (p.Leu736Pro) n.2887T>C c.1793T>C (p.Leu598Pro) c.-85T>C (n.-85T>C) c.1751T>C (p.Leu584Pro) c.-62T>C (n.-62T>C) n.2425T>C | COSMIC |
19 | g.1047592T>G | CA402953670 | ABCA7 | c.2207T>G (p.Leu736Arg) n.2887T>G c.1793T>G (p.Leu598Arg) c.-85T>G (n.-85T>G) c.1751T>G (p.Leu584Arg) c.-62T>G (n.-62T>G) n.2425T>G | |
19 | g.1047593T>A | CA504887871 | ABCA7 | c.2208T>A (p.Leu736=) n.2888T>A c.1794T>A (p.Leu598=) c.-84T>A (n.-84T>A) c.1752T>A (p.Leu584=) c.-61T>A (n.-61T>A) n.2426T>A | |
19 | g.1047593T>C | CA504887874 | ABCA7 | c.2208T>C (p.Leu736=) n.2888T>C c.1794T>C (p.Leu598=) c.-84T>C (n.-84T>C) c.1752T>C (p.Leu584=) c.-61T>C (n.-61T>C) n.2426T>C | gnomAD v4 |
19 | g.1047593T>G | CA504887873 | ABCA7 | c.2208T>G (p.Leu736=) n.2888T>G c.1794T>G (p.Leu598=) c.-84T>G (n.-84T>G) c.1752T>G (p.Leu584=) c.-61T>G (n.-61T>G) n.2426T>G | |
19 | g.1047594C>A | CA402953674 | ABCA7 | c.2209C>A (p.Leu737Met) n.2889C>A c.1795C>A (p.Leu599Met) c.-83C>A (n.-83C>A) c.1753C>A (p.Leu585Met) c.-60C>A (n.-60C>A) n.2427C>A | gnomAD v4 |
19 | g.1047594C= | CA2317483061 | ABCA7 | c.2209C= (p.Leu737=) n.2889C= c.1795C= (p.Leu599=) c.-83C= (n.-83C=) c.1753C= (p.Leu585=) c.-60C= (n.-60C=) n.2427C= | |
19 | g.1047594C>G | CA9033331 | ABCA7 | c.2209C>G (p.Leu737Val) n.2889C>G c.1795C>G (p.Leu599Val) c.-83C>G (n.-83C>G) c.1753C>G (p.Leu585Val) c.-60C>G (n.-60C>G) n.2427C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047594C>T | CA504887879 | ABCA7 | c.2209C>T (p.Leu737=) n.2889C>T c.1795C>T (p.Leu599=) c.-83C>T (n.-83C>T) c.1753C>T (p.Leu585=) c.-60C>T (n.-60C>T) n.2427C>T | |
19 | g.1047600_1047602del | CA2588185630 | ABCA7 | c.2215_2217del (p.Leu739del) n.2895_2897del c.1801_1803del (p.Leu601del) c.-77_-75del (n.-77_-75del) c.1759_1761del (p.Leu587del) c.-54_-52del (n.-54_-52del) n.2433_2435del | gnomAD v4 |
19 | g.1047595T>A | CA402953684 | ABCA7 | c.2210T>A (p.Leu737Gln) n.2890T>A c.1796T>A (p.Leu599Gln) c.-82T>A (n.-82T>A) c.1754T>A (p.Leu585Gln) c.-59T>A (n.-59T>A) n.2428T>A | |
19 | g.1047595T>C | CA402953677 | ABCA7 | c.2210T>C (p.Leu737Pro) n.2890T>C c.1796T>C (p.Leu599Pro) c.-82T>C (n.-82T>C) c.1754T>C (p.Leu585Pro) c.-59T>C (n.-59T>C) n.2428T>C | gnomAD v4 |
19 | g.1047595T>G | CA402953681 | ABCA7 | c.2210T>G (p.Leu737Arg) n.2890T>G c.1796T>G (p.Leu599Arg) c.-82T>G (n.-82T>G) c.1754T>G (p.Leu585Arg) c.-59T>G (n.-59T>G) n.2428T>G | |
19 | g.1047596G>A | CA504887884 | ABCA7 | c.2211G>A (p.Leu737=) n.2891G>A c.1797G>A (p.Leu599=) c.-81G>A (n.-81G>A) c.1755G>A (p.Leu585=) c.-58G>A (n.-58G>A) n.2429G>A | gnomAD v4 |
19 | g.1047596G>C | CA504887885 | ABCA7 | c.2211G>C (p.Leu737=) n.2891G>C c.1797G>C (p.Leu599=) c.-81G>C (n.-81G>C) c.1755G>C (p.Leu585=) c.-58G>C (n.-58G>C) n.2429G>C | |
19 | g.1047596G>T | CA504887886 | ABCA7 | c.2211G>T (p.Leu737=) n.2891G>T c.1797G>T (p.Leu599=) c.-81G>T (n.-81G>T) c.1755G>T (p.Leu585=) c.-58G>T (n.-58G>T) n.2429G>T | gnomAD v4 |
19 | g.1047597C>A | CA402953688 | ABCA7 | c.2212C>A (p.Leu738Met) n.2892C>A c.1798C>A (p.Leu600Met) c.-80C>A (n.-80C>A) c.1756C>A (p.Leu586Met) c.-57C>A (n.-57C>A) n.2430C>A | |
19 | g.1047597C>G | CA402953692 | ABCA7 | c.2212C>G (p.Leu738Val) n.2892C>G c.1798C>G (p.Leu600Val) c.-80C>G (n.-80C>G) c.1756C>G (p.Leu586Val) c.-57C>G (n.-57C>G) n.2430C>G | |
19 | g.1047597C>T | CA504887892 | ABCA7 | c.2212C>T (p.Leu738=) n.2892C>T c.1798C>T (p.Leu600=) c.-80C>T (n.-80C>T) c.1756C>T (p.Leu586=) c.-57C>T (n.-57C>T) n.2430C>T | gnomAD v4 |
19 | g.1047598T>A | CA303996146 | ABCA7 | c.2213T>A (p.Leu738Gln) n.2893T>A c.1799T>A (p.Leu600Gln) c.-79T>A (n.-79T>A) c.1757T>A (p.Leu586Gln) c.-56T>A (n.-56T>A) n.2431T>A | dbSNP |
19 | g.1047598T>C | CA402953699 | ABCA7 | c.2213T>C (p.Leu738Pro) n.2893T>C c.1799T>C (p.Leu600Pro) c.-79T>C (n.-79T>C) c.1757T>C (p.Leu586Pro) c.-56T>C (n.-56T>C) n.2431T>C | gnomAD v4 |
19 | g.1047598T>G | CA402953704 | ABCA7 | c.2213T>G (p.Leu738Arg) n.2893T>G c.1799T>G (p.Leu600Arg) c.-79T>G (n.-79T>G) c.1757T>G (p.Leu586Arg) c.-56T>G (n.-56T>G) n.2431T>G | |
19 | g.1047598T= | CA2317483062 | ABCA7 | c.2213T= (p.Leu738=) n.2893T= c.1799T= (p.Leu600=) c.-79T= (n.-79T=) c.1757T= (p.Leu586=) c.-56T= (n.-56T=) n.2431T= | |
19 | g.1047599G>A | CA504887896 | ABCA7 | c.2214G>A (p.Leu738=) n.2894G>A c.1800G>A (p.Leu600=) c.-78G>A (n.-78G>A) c.1758G>A (p.Leu586=) c.-55G>A (n.-55G>A) n.2432G>A | gnomAD v4 |
19 | g.1047599G>C | CA504887898 | ABCA7 | c.2214G>C (p.Leu738=) n.2894G>C c.1800G>C (p.Leu600=) c.-78G>C (n.-78G>C) c.1758G>C (p.Leu586=) c.-55G>C (n.-55G>C) n.2432G>C | |
19 | g.1047599G>T | CA504887899 | ABCA7 | c.2214G>T (p.Leu738=) n.2894G>T c.1800G>T (p.Leu600=) c.-78G>T (n.-78G>T) c.1758G>T (p.Leu586=) c.-55G>T (n.-55G>T) n.2432G>T | gnomAD v4 |