| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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 | 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 |