Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1047274C>A | CA402952189 | ABCA7 | c.1963C>A (p.Leu655Met) n.2643C>A c.1549C>A (p.Leu517Met) n.381C>A c.1507C>A (p.Leu503Met) n.2181C>A | |
19 | g.1047274C= | CA2317482857 | ABCA7 | c.1963C= (p.Leu655=) n.2643C= c.1549C= (p.Leu517=) n.381C= c.1507C= (p.Leu503=) n.2181C= | |
19 | g.1047274C>G | CA402952188 | ABCA7 | c.1963C>G (p.Leu655Val) n.2643C>G c.1549C>G (p.Leu517Val) n.381C>G c.1507C>G (p.Leu503Val) n.2181C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047274C>T | CA9033259 | ABCA7 | c.1963C>T (p.Leu655=) n.2643C>T c.1549C>T (p.Leu517=) n.381C>T c.1507C>T (p.Leu503=) n.2181C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047275T>A | CA402952190 | ABCA7 | c.1964T>A (p.Leu655Gln) n.2644T>A c.1550T>A (p.Leu517Gln) n.382T>A c.1508T>A (p.Leu503Gln) n.2182T>A | |
19 | g.1047275T>C | CA402952191 | ABCA7 | c.1964T>C (p.Leu655Pro) n.2644T>C c.1550T>C (p.Leu517Pro) n.382T>C c.1508T>C (p.Leu503Pro) n.2182T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047275T>G | CA402952192 | ABCA7 | c.1964T>G (p.Leu655Arg) n.2644T>G c.1550T>G (p.Leu517Arg) n.382T>G c.1508T>G (p.Leu503Arg) n.2182T>G | |
19 | g.1047275T= | CA2317482858 | ABCA7 | c.1964T= (p.Leu655=) n.2644T= c.1550T= (p.Leu517=) n.382T= c.1508T= (p.Leu503=) n.2182T= | |
19 | g.1047276G>A | CA9033260 | ABCA7 | c.1965G>A (p.Leu655=) n.2645G>A c.1551G>A (p.Leu517=) n.383G>A c.1509G>A (p.Leu503=) n.2183G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047276G>C | CA504887576 | ABCA7 | c.1965G>C (p.Leu655=) n.2645G>C c.1551G>C (p.Leu517=) n.383G>C c.1509G>C (p.Leu503=) n.2183G>C | |
19 | g.1047276G= | CA2317482859 | ABCA7 | c.1965G= (p.Leu655=) n.2645G= c.1551G= (p.Leu517=) n.383G= c.1509G= (p.Leu503=) n.2183G= | |
19 | g.1047276G>T | CA504887578 | ABCA7 | c.1965G>T (p.Leu655=) n.2645G>T c.1551G>T (p.Leu517=) n.383G>T c.1509G>T (p.Leu503=) n.2183G>T | gnomAD v4 |
19 | g.1047277G>A | CA402952193 | ABCA7 | c.1966G>A (p.Ala656Thr) n.2646G>A c.1552G>A (p.Ala518Thr) n.384G>A c.1510G>A (p.Ala504Thr) n.2184G>A | gnomAD v4 |
19 | g.1047277G>C | CA402952194 | ABCA7 | c.1966G>C (p.Ala656Pro) n.2646G>C c.1552G>C (p.Ala518Pro) n.384G>C c.1510G>C (p.Ala504Pro) n.2184G>C | |
19 | g.1047277G>T | CA402952195 | ABCA7 | c.1966G>T (p.Ala656Ser) n.2646G>T c.1552G>T (p.Ala518Ser) n.384G>T c.1510G>T (p.Ala504Ser) n.2184G>T | gnomAD v4 |
19 | g.1047279_1047288del | CA2588185558 | ABCA7 | c.1968_1977del (p.Cys659TrpfsTer?) n.2648_2657del c.1554_1563del (p.Cys521TrpfsTer?) n.386_395del c.1512_1521del (p.Cys507TrpfsTer?) n.2186_2195del | gnomAD v4 |
19 | g.1047278C>A | CA402952196 | ABCA7 | c.1967C>A (p.Ala656Asp) n.2647C>A c.1553C>A (p.Ala518Asp) n.385C>A c.1511C>A (p.Ala504Asp) n.2185C>A | gnomAD v4 |
19 | g.1047278C>G | CA402952198 | ABCA7 | c.1967C>G (p.Ala656Gly) n.2647C>G c.1553C>G (p.Ala518Gly) n.385C>G c.1511C>G (p.Ala504Gly) n.2185C>G | |
19 | g.1047278C>T | CA402952197 | ABCA7 | c.1967C>T (p.Ala656Val) n.2647C>T c.1553C>T (p.Ala518Val) n.385C>T c.1511C>T (p.Ala504Val) n.2185C>T | gnomAD v4 |
19 | g.1047279T>A | CA504887583 | ABCA7 | c.1968T>A (p.Ala656=) n.2648T>A c.1554T>A (p.Ala518=) n.386T>A c.1512T>A (p.Ala504=) n.2186T>A | |
19 | g.1047279T>C | CA504887585 | ABCA7 | c.1968T>C (p.Ala656=) n.2648T>C c.1554T>C (p.Ala518=) n.386T>C c.1512T>C (p.Ala504=) n.2186T>C | |
19 | g.1047279T>G | CA504887586 | ABCA7 | c.1968T>G (p.Ala656=) n.2648T>G c.1554T>G (p.Ala518=) n.386T>G c.1512T>G (p.Ala504=) n.2186T>G | |
19 | g.1047279_1047289delinsTGCGGCCTGCG | CA2317482860 | ABCA7 | c.1968_1978delinsTGCGGCCTGCG (p.Ala656=) n.2648_2658delinsTGCGGCCTGCG c.1554_1564delinsTGCGGCCTGCG (p.Ala518=) n.386_396delinsTGCGGCCTGCG c.1512_1522delinsTGCGGCCTGCG (p.Ala504=) n.2186_2196delinsTGCGGCCTGCG | |
19 | g.1047280G>A | CA402952199 | ABCA7 | c.1969G>A (p.Ala657Thr) n.2649G>A c.1555G>A (p.Ala519Thr) n.387G>A c.1513G>A (p.Ala505Thr) n.2187G>A | |
19 | g.1047280G>C | CA402952200 | ABCA7 | c.1969G>C (p.Ala657Pro) n.2649G>C c.1555G>C (p.Ala519Pro) n.387G>C c.1513G>C (p.Ala505Pro) n.2187G>C | |
19 | g.1047280G>T | CA402952201 | ABCA7 | c.1969G>T (p.Ala657Ser) n.2649G>T c.1555G>T (p.Ala519Ser) n.387G>T c.1513G>T (p.Ala505Ser) n.2187G>T | gnomAD v4 |
19 | g.1047288_1047297del | CA9033261 | ABCA7 | c.1977_1986del (p.Cys659TrpfsTer?) n.2657_2666del c.1563_1572del (p.Cys521TrpfsTer?) n.395_404del c.1521_1530del (p.Cys507TrpfsTer?) n.2195_2204del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047281C>A | CA402952202 | ABCA7 | c.1970C>A (p.Ala657Glu) n.2650C>A c.1556C>A (p.Ala519Glu) n.388C>A c.1514C>A (p.Ala505Glu) n.2188C>A | |
19 | g.1047281C= | CA2317482861 | ABCA7 | c.1970C= (p.Ala657=) n.2650C= c.1556C= (p.Ala519=) n.388C= c.1514C= (p.Ala505=) n.2188C= | |
19 | g.1047281C>G | CA402952203 | ABCA7 | c.1970C>G (p.Ala657Gly) n.2650C>G c.1556C>G (p.Ala519Gly) n.388C>G c.1514C>G (p.Ala505Gly) n.2188C>G | |
19 | g.1047281C>T | CA303995575 | ABCA7 | c.1970C>T (p.Ala657Val) n.2650C>T c.1556C>T (p.Ala519Val) n.388C>T c.1514C>T (p.Ala505Val) n.2188C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047281_1047296delinsCGGCCTGCGGCGGCCT | CA2317482862 | ABCA7 | c.1970_1985delinsCGGCCTGCGGCGGCCT (p.Ala657=) n.2650_2665delinsCGGCCTGCGGCGGCCT c.1556_1571delinsCGGCCTGCGGCGGCCT (p.Ala519=) n.388_403delinsCGGCCTGCGGCGGCCT c.1514_1529delinsCGGCCTGCGGCGGCCT (p.Ala505=) n.2188_2203delinsCGGCCTGCGGCGGCCT | |
19 | g.1047282G>A | CA504887592 | ABCA7 | c.1971G>A (p.Ala657=) n.2651G>A c.1557G>A (p.Ala519=) n.389G>A c.1515G>A (p.Ala505=) n.2189G>A | gnomAD v4 |
19 | g.1047282G>C | CA504887591 | ABCA7 | c.1971G>C (p.Ala657=) n.2651G>C c.1557G>C (p.Ala519=) n.389G>C c.1515G>C (p.Ala505=) n.2189G>C | |
19 | g.1047282G>T | CA504887589 | ABCA7 | c.1971G>T (p.Ala657=) n.2651G>T c.1557G>T (p.Ala519=) n.389G>T c.1515G>T (p.Ala505=) n.2189G>T | gnomAD v4 |
19 | g.1047287_1047301del | CA920034901 | ABCA7 | c.1976_1990del (p.Cys659_Ala663del) n.2656_2670del c.1562_1576del (p.Cys521_Ala525del) n.394_408del c.1520_1534del (p.Cys507_Ala511del) n.2194_2208del | dbSNP |
19 | g.1047283G>A | CA402952204 | ABCA7 | c.1972G>A (p.Ala658Thr) n.2652G>A c.1558G>A (p.Ala520Thr) n.390G>A c.1516G>A (p.Ala506Thr) n.2190G>A | gnomAD v4 |
19 | g.1047283G>C | CA402952205 | ABCA7 | c.1972G>C (p.Ala658Pro) n.2652G>C c.1558G>C (p.Ala520Pro) n.390G>C c.1516G>C (p.Ala506Pro) n.2190G>C | gnomAD v4 |
19 | g.1047283G>T | CA402952206 | ABCA7 | c.1972G>T (p.Ala658Ser) n.2652G>T c.1558G>T (p.Ala520Ser) n.390G>T c.1516G>T (p.Ala506Ser) n.2190G>T | gnomAD v4 |
19 | g.1047284C>A | CA402952208 | ABCA7 | c.1973C>A (p.Ala658Asp) n.2653C>A c.1559C>A (p.Ala520Asp) n.391C>A c.1517C>A (p.Ala506Asp) n.2191C>A | COSMIC |
19 | g.1047284C>G | CA402952210 | ABCA7 | c.1973C>G (p.Ala658Gly) n.2653C>G c.1559C>G (p.Ala520Gly) n.391C>G c.1517C>G (p.Ala506Gly) n.2191C>G | gnomAD v4 |
19 | g.1047284C>T | CA402952212 | ABCA7 | c.1973C>T (p.Ala658Val) n.2653C>T c.1559C>T (p.Ala520Val) n.391C>T c.1517C>T (p.Ala506Val) n.2191C>T | COSMIC |
19 | g.1047285C>A | CA9033262 | ABCA7 | c.1974C>A (p.Ala658=) n.2654C>A c.1560C>A (p.Ala520=) n.392C>A c.1518C>A (p.Ala506=) n.2192C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047285C= | CA2317482863 | ABCA7 | c.1974C= (p.Ala658=) n.2654C= c.1560C= (p.Ala520=) n.392C= c.1518C= (p.Ala506=) n.2192C= | |
19 | g.1047285C>G | CA504887596 | ABCA7 | c.1974C>G (p.Ala658=) n.2654C>G c.1560C>G (p.Ala520=) n.392C>G c.1518C>G (p.Ala506=) n.2192C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047285C>T | CA504887598 | ABCA7 | c.1974C>T (p.Ala658=) n.2654C>T c.1560C>T (p.Ala520=) n.392C>T c.1518C>T (p.Ala506=) n.2192C>T | |
19 | g.1047286T>A | CA9033263 | ABCA7 | c.1975T>A (p.Cys659Ser) n.2655T>A c.1561T>A (p.Cys521Ser) n.393T>A c.1519T>A (p.Cys507Ser) n.2193T>A | dbSNP ExAC gnomAD v4 |
19 | g.1047286T>C | CA402952215 | ABCA7 | c.1975T>C (p.Cys659Arg) n.2655T>C c.1561T>C (p.Cys521Arg) n.393T>C c.1519T>C (p.Cys507Arg) n.2193T>C | gnomAD v4 |
19 | g.1047286T>G | CA402952217 | ABCA7 | c.1975T>G (p.Cys659Gly) n.2655T>G c.1561T>G (p.Cys521Gly) n.393T>G c.1519T>G (p.Cys507Gly) n.2193T>G | |
19 | g.1047286T= | CA2317482864 | ABCA7 | c.1975T= (p.Cys659=) n.2655T= c.1561T= (p.Cys521=) n.393T= c.1519T= (p.Cys507=) n.2193T= | |
19 | g.1047287G>A | CA402952223 | ABCA7 | c.1976G>A (p.Cys659Tyr) n.2656G>A c.1562G>A (p.Cys521Tyr) n.394G>A c.1520G>A (p.Cys507Tyr) n.2194G>A | |
19 | g.1047287G>C | CA402952221 | ABCA7 | c.1976G>C (p.Cys659Ser) n.2656G>C c.1562G>C (p.Cys521Ser) n.394G>C c.1520G>C (p.Cys507Ser) n.2194G>C | |
19 | g.1047287G>T | CA402952219 | ABCA7 | c.1976G>T (p.Cys659Phe) n.2656G>T c.1562G>T (p.Cys521Phe) n.394G>T c.1520G>T (p.Cys507Phe) n.2194G>T | gnomAD v4 |
19 | g.1047288C>A | CA402952224 | ABCA7 | c.1977C>A (p.Cys659Ter) n.2657C>A c.1563C>A (p.Cys521Ter) n.395C>A c.1521C>A (p.Cys507Ter) n.2195C>A | |
19 | g.1047288C= | CA2317482865 | ABCA7 | c.1977C= (p.Cys659=) n.2657C= c.1563C= (p.Cys521=) n.395C= c.1521C= (p.Cys507=) n.2195C= | |
19 | g.1047288C>G | CA402952226 | ABCA7 | c.1977C>G (p.Cys659Trp) n.2657C>G c.1563C>G (p.Cys521Trp) n.395C>G c.1521C>G (p.Cys507Trp) n.2195C>G | |
19 | g.1047288C>T | CA9033264 | ABCA7 | c.1977C>T (p.Cys659=) n.2657C>T c.1563C>T (p.Cys521=) n.395C>T c.1521C>T (p.Cys507=) n.2195C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047288dup | CA2841534637 | ABCA7 | c.1977dup (p.Gly660ArgfsTer?) n.2657dup c.1563dup (p.Gly522ArgfsTer?) n.395dup c.1521dup (p.Gly508ArgfsTer?) n.2195dup | |
19 | g.1047288_1047289insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA | CA2813242330 | ABCA7 | c.1977_1978insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA n.2657_2658insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA c.1563_1564insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA n.395_396insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA c.1521_1522insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA n.2195_2196insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA | |
19 | g.1047289G>A | CA9033265 | ABCA7 | c.1978G>A (p.Gly660Ser) n.2658G>A c.1564G>A (p.Gly522Ser) n.396G>A c.1522G>A (p.Gly508Ser) n.2196G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047289G>C | CA303995604 | ABCA7 | c.1978G>C (p.Gly660Arg) n.2658G>C c.1564G>C (p.Gly522Arg) n.396G>C c.1522G>C (p.Gly508Arg) n.2196G>C | dbSNP |
19 | g.1047289G= | CA2317482866 | ABCA7 | c.1978G= (p.Gly660=) n.2658G= c.1564G= (p.Gly522=) n.396G= c.1522G= (p.Gly508=) n.2196G= | |
19 | g.1047289G>T | CA402952228 | ABCA7 | c.1978G>T (p.Gly660Cys) n.2658G>T c.1564G>T (p.Gly522Cys) n.396G>T c.1522G>T (p.Gly508Cys) n.2196G>T | dbSNP gnomAD v4 |
19 | g.1047290G>A | CA402952230 | ABCA7 | c.1979G>A (p.Gly660Asp) n.2659G>A c.1565G>A (p.Gly522Asp) n.397G>A c.1523G>A (p.Gly508Asp) n.2197G>A | ClinVar gnomAD v4 |
19 | g.1047290G>C | CA402952232 | ABCA7 | c.1979G>C (p.Gly660Ala) n.2659G>C c.1565G>C (p.Gly522Ala) n.397G>C c.1523G>C (p.Gly508Ala) n.2197G>C | gnomAD v4 |
19 | g.1047290G>T | CA402952234 | ABCA7 | c.1979G>T (p.Gly660Val) n.2659G>T c.1565G>T (p.Gly522Val) n.397G>T c.1523G>T (p.Gly508Val) n.2197G>T | gnomAD v4 |
19 | g.1047291C>A | CA504887606 | ABCA7 | c.1980C>A (p.Gly660=) n.2660C>A c.1566C>A (p.Gly522=) n.398C>A c.1524C>A (p.Gly508=) n.2198C>A | |
19 | g.1047291C= | CA2317482867 | ABCA7 | c.1980C= (p.Gly660=) n.2660C= c.1566C= (p.Gly522=) n.398C= c.1524C= (p.Gly508=) n.2198C= | |
19 | g.1047291C>G | CA504887608 | ABCA7 | c.1980C>G (p.Gly660=) n.2660C>G c.1566C>G (p.Gly522=) n.398C>G c.1524C>G (p.Gly508=) n.2198C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047291C>T | CA504887609 | ABCA7 | c.1980C>T (p.Gly660=) n.2660C>T c.1566C>T (p.Gly522=) n.398C>T c.1524C>T (p.Gly508=) n.2198C>T | gnomAD v4 COSMIC |
19 | g.1047292G>A | CA402952236 | ABCA7 | c.1981G>A (p.Gly661Ser) n.2661G>A c.1567G>A (p.Gly523Ser) n.399G>A c.1525G>A (p.Gly509Ser) n.2199G>A | dbSNP |
19 | g.1047292G>C | CA402952238 | ABCA7 | c.1981G>C (p.Gly661Arg) n.2661G>C c.1567G>C (p.Gly523Arg) n.399G>C c.1525G>C (p.Gly509Arg) n.2199G>C | |
19 | g.1047292G= | CA2317482868 | ABCA7 | c.1981G= (p.Gly661=) n.2661G= c.1567G= (p.Gly523=) n.399G= c.1525G= (p.Gly509=) n.2199G= | |
19 | g.1047292G>T | CA402952240 | ABCA7 | c.1981G>T (p.Gly661Cys) n.2661G>T c.1567G>T (p.Gly523Cys) n.399G>T c.1525G>T (p.Gly509Cys) n.2199G>T | gnomAD v4 |
19 | g.1047297_1047301dup | CA2588185559 | ABCA7 | c.1986_1990dup (p.Tyr664TrpfsTer?) n.2666_2670dup c.1572_1576dup (p.Tyr526TrpfsTer?) n.404_408dup c.1530_1534dup (p.Tyr512TrpfsTer?) n.2204_2208dup | gnomAD v4 |
19 | g.1047293G>A | CA402952242 | ABCA7 | c.1982G>A (p.Gly661Asp) n.2662G>A c.1568G>A (p.Gly523Asp) n.400G>A c.1526G>A (p.Gly509Asp) n.2200G>A | gnomAD v4 |
19 | g.1047293G>C | CA402952244 | ABCA7 | c.1982G>C (p.Gly661Ala) n.2662G>C c.1568G>C (p.Gly523Ala) n.400G>C c.1526G>C (p.Gly509Ala) n.2200G>C | |
19 | g.1047293G= | CA2317482870 | ABCA7 | c.1982G= (p.Gly661=) n.2662G= c.1568G= (p.Gly523=) n.400G= c.1526G= (p.Gly509=) n.2200G= | |
19 | g.1047293G>T | CA402952246 | ABCA7 | c.1982G>T (p.Gly661Val) n.2662G>T c.1568G>T (p.Gly523Val) n.400G>T c.1526G>T (p.Gly509Val) n.2200G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047293_1047294delinsGC | CA2317482869 | ABCA7 | c.1982_1983delinsGC (p.Gly661=) n.2662_2663delinsGC c.1568_1569delinsGC (p.Gly523=) n.400_401delinsGC c.1526_1527delinsGC (p.Gly509=) n.2200_2201delinsGC | |
19 | g.1047294C>A | CA504887612 | ABCA7 | c.1983C>A (p.Gly661=) n.2663C>A c.1569C>A (p.Gly523=) n.401C>A c.1527C>A (p.Gly509=) n.2201C>A | gnomAD v4 |
19 | g.1047294C>G | CA504887613 | ABCA7 | c.1983C>G (p.Gly661=) n.2663C>G c.1569C>G (p.Gly523=) n.401C>G c.1527C>G (p.Gly509=) n.2201C>G | |
19 | g.1047294C>T | CA504887614 | ABCA7 | c.1983C>T (p.Gly661=) n.2663C>T c.1569C>T (p.Gly523=) n.401C>T c.1527C>T (p.Gly509=) n.2201C>T | gnomAD v4 |
19 | g.1047295del | CA783177174 | ABCA7 | c.1984del (p.Leu662TrpfsTer?) n.2664del c.1570del (p.Leu524TrpfsTer?) n.402del c.1528del (p.Leu510TrpfsTer?) n.2202del | dbSNP gnomAD v4 |
19 | g.1047295C>A | CA402952250 | ABCA7 | c.1984C>A (p.Leu662Met) n.2664C>A c.1570C>A (p.Leu524Met) n.402C>A c.1528C>A (p.Leu510Met) n.2202C>A | gnomAD v4 |
19 | g.1047295C>G | CA402952248 | ABCA7 | c.1984C>G (p.Leu662Val) n.2664C>G c.1570C>G (p.Leu524Val) n.402C>G c.1528C>G (p.Leu510Val) n.2202C>G | |
19 | g.1047295C>T | CA504887615 | ABCA7 | c.1984C>T (p.Leu662=) n.2664C>T c.1570C>T (p.Leu524=) n.402C>T c.1528C>T (p.Leu510=) n.2202C>T | |
19 | g.1047296T>A | CA402952252 | ABCA7 | c.1985T>A (p.Leu662Gln) n.2665T>A c.1571T>A (p.Leu524Gln) n.403T>A c.1529T>A (p.Leu510Gln) n.2203T>A | |
19 | g.1047296T>C | CA402952254 | ABCA7 | c.1985T>C (p.Leu662Pro) n.2665T>C c.1571T>C (p.Leu524Pro) n.403T>C c.1529T>C (p.Leu510Pro) n.2203T>C | dbSNP gnomAD v4 |
19 | g.1047296T>G | CA9033266 | ABCA7 | c.1985T>G (p.Leu662Arg) n.2665T>G c.1571T>G (p.Leu524Arg) n.403T>G c.1529T>G (p.Leu510Arg) n.2203T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047296T= | CA2317482871 | ABCA7 | c.1985T= (p.Leu662=) n.2665T= c.1571T= (p.Leu524=) n.403T= c.1529T= (p.Leu510=) n.2203T= | |
19 | g.1047297G>A | CA504887616 | ABCA7 | c.1986G>A (p.Leu662=) n.2666G>A c.1572G>A (p.Leu524=) n.404G>A c.1530G>A (p.Leu510=) n.2204G>A | gnomAD v4 |
19 | g.1047297G>C | CA504887617 | ABCA7 | c.1986G>C (p.Leu662=) n.2666G>C c.1572G>C (p.Leu524=) n.404G>C c.1530G>C (p.Leu510=) n.2204G>C | |
19 | g.1047297G>T | CA504887618 | ABCA7 | c.1986G>T (p.Leu662=) n.2666G>T c.1572G>T (p.Leu524=) n.404G>T c.1530G>T (p.Leu510=) n.2204G>T | gnomAD v4 |
19 | g.1047298G>A | CA402952257 | ABCA7 | c.1987G>A (p.Ala663Thr) n.2667G>A c.1573G>A (p.Ala525Thr) n.405G>A c.1531G>A (p.Ala511Thr) n.2205G>A | gnomAD v4 |
19 | g.1047298G>C | CA402952259 | ABCA7 | c.1987G>C (p.Ala663Pro) n.2667G>C c.1573G>C (p.Ala525Pro) n.405G>C c.1531G>C (p.Ala511Pro) n.2205G>C | gnomAD v4 |
19 | g.1047298G>T | CA402952261 | ABCA7 | c.1987G>T (p.Ala663Ser) n.2667G>T c.1573G>T (p.Ala525Ser) n.405G>T c.1531G>T (p.Ala511Ser) n.2205G>T | gnomAD v4 |
19 | g.1047299C>A | CA402952263 | ABCA7 | c.1988C>A (p.Ala663Asp) n.2668C>A c.1574C>A (p.Ala525Asp) n.406C>A c.1532C>A (p.Ala511Asp) n.2206C>A | gnomAD v4 |
19 | g.1047299C>G | CA402952265 | ABCA7 | c.1988C>G (p.Ala663Gly) n.2668C>G c.1574C>G (p.Ala525Gly) n.406C>G c.1532C>G (p.Ala511Gly) n.2206C>G | |
19 | g.1047299C>T | CA402952267 | ABCA7 | c.1988C>T (p.Ala663Val) n.2668C>T c.1574C>T (p.Ala525Val) n.406C>T c.1532C>T (p.Ala511Val) n.2206C>T | gnomAD v4 |
19 | g.1047300C>A | CA504887619 | ABCA7 | c.1989C>A (p.Ala663=) n.2669C>A c.1575C>A (p.Ala525=) n.407C>A c.1533C>A (p.Ala511=) n.2207C>A | |
19 | g.1047300C>G | CA504887620 | ABCA7 | c.1989C>G (p.Ala663=) n.2669C>G c.1575C>G (p.Ala525=) n.407C>G c.1533C>G (p.Ala511=) n.2207C>G | |
19 | g.1047300C>T | CA504887621 | ABCA7 | c.1989C>T (p.Ala663=) n.2669C>T c.1575C>T (p.Ala525=) n.407C>T c.1533C>T (p.Ala511=) n.2207C>T | gnomAD v4 |
19 | g.1047301T>A | CA402952269 | ABCA7 | c.1990T>A (p.Tyr664Asn) n.2670T>A c.1576T>A (p.Tyr526Asn) n.408T>A c.1534T>A (p.Tyr512Asn) n.2208T>A | gnomAD v4 |
19 | g.1047301T>C | CA402952271 | ABCA7 | c.1990T>C (p.Tyr664His) n.2670T>C c.1576T>C (p.Tyr526His) n.408T>C c.1534T>C (p.Tyr512His) n.2208T>C | |
19 | g.1047301T>G | CA402952273 | ABCA7 | c.1990T>G (p.Tyr664Asp) n.2670T>G c.1576T>G (p.Tyr526Asp) n.408T>G c.1534T>G (p.Tyr512Asp) n.2208T>G | |
19 | g.1047302A= | CA2317482872 | ABCA7 | c.1991A= (p.Tyr664=) n.2671A= c.1577A= (p.Tyr526=) n.409A= c.1535A= (p.Tyr512=) n.2209A= | |
19 | g.1047302A>C | CA402952278 | ABCA7 | c.1991A>C (p.Tyr664Ser) n.2671A>C c.1577A>C (p.Tyr526Ser) n.409A>C c.1535A>C (p.Tyr512Ser) n.2209A>C | |
19 | g.1047302A>G | CA303995628 | ABCA7 | c.1991A>G (p.Tyr664Cys) n.2671A>G c.1577A>G (p.Tyr526Cys) n.409A>G c.1535A>G (p.Tyr512Cys) n.2209A>G | dbSNP gnomAD v4 |
19 | g.1047302A>T | CA402952275 | ABCA7 | c.1991A>T (p.Tyr664Phe) n.2671A>T c.1577A>T (p.Tyr526Phe) n.409A>T c.1535A>T (p.Tyr512Phe) n.2209A>T | |
19 | g.1047303C>A | CA402952280 | ABCA7 | c.1992C>A (p.Tyr664Ter) n.2672C>A c.1578C>A (p.Tyr526Ter) n.410C>A c.1536C>A (p.Tyr512Ter) n.2210C>A | |
19 | g.1047303C>G | CA402952282 | ABCA7 | c.1992C>G (p.Tyr664Ter) n.2672C>G c.1578C>G (p.Tyr526Ter) n.410C>G c.1536C>G (p.Tyr512Ter) n.2210C>G | |
19 | g.1047303C>T | CA504887622 | ABCA7 | c.1992C>T (p.Tyr664=) n.2672C>T c.1578C>T (p.Tyr526=) n.410C>T c.1536C>T (p.Tyr512=) n.2210C>T | |
19 | g.1047305_1047307del | CA2813242331 | ABCA7 | c.1994_1996del (p.Phe665del) n.2674_2676del c.1580_1582del (p.Phe527del) n.412_414del c.1538_1540del (p.Phe513del) n.2212_2214del | |
19 | g.1047304T>A | CA402952284 | ABCA7 | c.1993T>A (p.Phe665Ile) n.2673T>A c.1579T>A (p.Phe527Ile) n.411T>A c.1537T>A (p.Phe513Ile) n.2211T>A | |
19 | g.1047304T>C | CA9033267 | ABCA7 | c.1993T>C (p.Phe665Leu) n.2673T>C c.1579T>C (p.Phe527Leu) n.411T>C c.1537T>C (p.Phe513Leu) n.2211T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047304T>G | CA402952286 | ABCA7 | c.1993T>G (p.Phe665Val) n.2673T>G c.1579T>G (p.Phe527Val) n.411T>G c.1537T>G (p.Phe513Val) n.2211T>G | gnomAD v4 |
19 | g.1047304T= | CA2317482873 | ABCA7 | c.1993T= (p.Phe665=) n.2673T= c.1579T= (p.Phe527=) n.411T= c.1537T= (p.Phe513=) n.2211T= | |
19 | g.1047305T>A | CA402952288 | ABCA7 | c.1994T>A (p.Phe665Tyr) n.2674T>A c.1580T>A (p.Phe527Tyr) n.412T>A c.1538T>A (p.Phe513Tyr) n.2212T>A | |
19 | g.1047305T>C | CA402952289 | ABCA7 | c.1994T>C (p.Phe665Ser) n.2674T>C c.1580T>C (p.Phe527Ser) n.412T>C c.1538T>C (p.Phe513Ser) n.2212T>C | |
19 | g.1047305T>G | CA402952291 | ABCA7 | c.1994T>G (p.Phe665Cys) n.2674T>G c.1580T>G (p.Phe527Cys) n.412T>G c.1538T>G (p.Phe513Cys) n.2212T>G | |
19 | g.1047306C>A | CA402952292 | ABCA7 | c.1995C>A (p.Phe665Leu) n.2675C>A c.1581C>A (p.Phe527Leu) n.413C>A c.1539C>A (p.Phe513Leu) n.2213C>A | gnomAD v4 |
19 | g.1047306C= | CA2317482874 | ABCA7 | c.1995C= (p.Phe665=) n.2675C= c.1581C= (p.Phe527=) n.413C= c.1539C= (p.Phe513=) n.2213C= | |
19 | g.1047306C>G | CA402952293 | ABCA7 | c.1995C>G (p.Phe665Leu) n.2675C>G c.1581C>G (p.Phe527Leu) n.413C>G c.1539C>G (p.Phe513Leu) n.2213C>G | dbSNP |
19 | g.1047306C>T | CA504887623 | ABCA7 | c.1995C>T (p.Phe665=) n.2675C>T c.1581C>T (p.Phe527=) n.413C>T c.1539C>T (p.Phe513=) n.2213C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047307T>A | CA402952295 | ABCA7 | c.1996T>A (p.Ser666Thr) n.2676T>A c.1582T>A (p.Ser528Thr) n.414T>A c.1540T>A (p.Ser514Thr) n.2214T>A | |
19 | g.1047307T>C | CA402952297 | ABCA7 | c.1996T>C (p.Ser666Pro) n.2676T>C c.1582T>C (p.Ser528Pro) n.414T>C c.1540T>C (p.Ser514Pro) n.2214T>C | |
19 | g.1047307T>G | CA402952298 | ABCA7 | c.1996T>G (p.Ser666Ala) n.2676T>G c.1582T>G (p.Ser528Ala) n.414T>G c.1540T>G (p.Ser514Ala) n.2214T>G | |
19 | g.1047307_1047318delinsTCCCTCTACCTG | CA2317482875 | ABCA7 | c.1996_2007delinsTCCCTCTACCTG (p.Ser666=) n.2676_2687delinsTCCCTCTACCTG c.1582_1593delinsTCCCTCTACCTG (p.Ser528=) n.414_425delinsTCCCTCTACCTG c.1540_1551delinsTCCCTCTACCTG (p.Ser514=) n.2214_2225delinsTCCCTCTACCTG | |
19 | g.1047308C>A | CA402952300 | ABCA7 | c.1997C>A (p.Ser666Tyr) n.2677C>A c.1583C>A (p.Ser528Tyr) n.415C>A c.1541C>A (p.Ser514Tyr) n.2215C>A | gnomAD v4 |
19 | g.1047308C= | CA2317482876 | ABCA7 | c.1997C= (p.Ser666=) n.2677C= c.1583C= (p.Ser528=) n.415C= c.1541C= (p.Ser514=) n.2215C= | |
19 | g.1047308C>G | CA402952299 | ABCA7 | c.1997C>G (p.Ser666Cys) n.2677C>G c.1583C>G (p.Ser528Cys) n.415C>G c.1541C>G (p.Ser514Cys) n.2215C>G | |
19 | g.1047308C>T | CA9033268 | ABCA7 | c.1997C>T (p.Ser666Phe) n.2677C>T c.1583C>T (p.Ser528Phe) n.415C>T c.1541C>T (p.Ser514Phe) n.2215C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047312_1047322del | CA303995633 | ABCA7 | c.2001_2011del (p.Tyr668ArgfsTer?) n.2681_2691del c.1587_1597del (p.Tyr530ArgfsTer?) n.419_429del c.1545_1555del (p.Tyr516ArgfsTer?) n.2219_2229del | dbSNP |
19 | g.1047309C>A | CA504887626 | ABCA7 | c.1998C>A (p.Ser666=) n.2678C>A c.1584C>A (p.Ser528=) n.416C>A c.1542C>A (p.Ser514=) n.2216C>A | |
19 | g.1047309C= | CA2317482877 | ABCA7 | c.1998C= (p.Ser666=) n.2678C= c.1584C= (p.Ser528=) n.416C= c.1542C= (p.Ser514=) n.2216C= | |
19 | g.1047309C>G | CA504887625 | ABCA7 | c.1998C>G (p.Ser666=) n.2678C>G c.1584C>G (p.Ser528=) n.416C>G c.1542C>G (p.Ser514=) n.2216C>G | |
19 | g.1047309C>T | CA504887624 | ABCA7 | c.1998C>T (p.Ser666=) n.2678C>T c.1584C>T (p.Ser528=) n.416C>T c.1542C>T (p.Ser514=) n.2216C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047310C>A | CA402952301 | ABCA7 | c.1999C>A (p.Leu667Ile) n.2679C>A c.1585C>A (p.Leu529Ile) n.417C>A c.1543C>A (p.Leu515Ile) n.2217C>A | gnomAD v4 |
19 | g.1047310C= | CA2317482878 | ABCA7 | c.1999C= (p.Leu667=) n.2679C= c.1585C= (p.Leu529=) n.417C= c.1543C= (p.Leu515=) n.2217C= | |
19 | g.1047310C>G | CA402952302 | ABCA7 | c.1999C>G (p.Leu667Val) n.2679C>G c.1585C>G (p.Leu529Val) n.417C>G c.1543C>G (p.Leu515Val) n.2217C>G | |
19 | g.1047310C>T | CA9033269 | ABCA7 | c.1999C>T (p.Leu667Phe) n.2679C>T c.1585C>T (p.Leu529Phe) n.417C>T c.1543C>T (p.Leu515Phe) n.2217C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047312_1047313del | CA2588185560 | ABCA7 | c.2001_2002del (p.Tyr668ProfsTer?) n.2681_2682del c.1587_1588del (p.Tyr530ProfsTer?) n.419_420del c.1545_1546del (p.Tyr516ProfsTer?) n.2219_2220del | gnomAD v4 |
19 | g.1047311T>A | CA402952305 | ABCA7 | c.2000T>A (p.Leu667His) n.2680T>A c.1586T>A (p.Leu529His) n.418T>A c.1544T>A (p.Leu515His) n.2218T>A | |
19 | g.1047311T>C | CA402952306 | ABCA7 | c.2000T>C (p.Leu667Pro) n.2680T>C c.1586T>C (p.Leu529Pro) n.418T>C c.1544T>C (p.Leu515Pro) n.2218T>C | gnomAD v4 |
19 | g.1047311T>G | CA402952308 | ABCA7 | c.2000T>G (p.Leu667Arg) n.2680T>G c.1586T>G (p.Leu529Arg) n.418T>G c.1544T>G (p.Leu515Arg) n.2218T>G | |
19 | g.1047312C>A | CA504887627 | ABCA7 | c.2001C>A (p.Leu667=) n.2681C>A c.1587C>A (p.Leu529=) n.419C>A c.1545C>A (p.Leu515=) n.2219C>A | |
19 | g.1047312C>G | CA504887628 | ABCA7 | c.2001C>G (p.Leu667=) n.2681C>G c.1587C>G (p.Leu529=) n.419C>G c.1545C>G (p.Leu515=) n.2219C>G | |
19 | g.1047312C>T | CA504887629 | ABCA7 | c.2001C>T (p.Leu667=) n.2681C>T c.1587C>T (p.Leu529=) n.419C>T c.1545C>T (p.Leu515=) n.2219C>T | gnomAD v4 |
19 | g.1047313T>A | CA402952310 | ABCA7 | c.2002T>A (p.Tyr668Asn) n.2682T>A c.1588T>A (p.Tyr530Asn) n.420T>A c.1546T>A (p.Tyr516Asn) n.2220T>A | |
19 | g.1047313T>C | CA402952312 | ABCA7 | c.2002T>C (p.Tyr668His) n.2682T>C c.1588T>C (p.Tyr530His) n.420T>C c.1546T>C (p.Tyr516His) n.2220T>C | gnomAD v4 |
19 | g.1047313T>G | CA402952314 | ABCA7 | c.2002T>G (p.Tyr668Asp) n.2682T>G c.1588T>G (p.Tyr530Asp) n.420T>G c.1546T>G (p.Tyr516Asp) n.2220T>G | |
19 | g.1047314A>C | CA402952316 | ABCA7 | c.2003A>C (p.Tyr668Ser) n.2683A>C c.1589A>C (p.Tyr530Ser) n.421A>C c.1547A>C (p.Tyr516Ser) n.2221A>C | |
19 | g.1047314A>G | CA402952318 | ABCA7 | c.2003A>G (p.Tyr668Cys) n.2683A>G c.1589A>G (p.Tyr530Cys) n.421A>G c.1547A>G (p.Tyr516Cys) n.2221A>G | |
19 | g.1047314A>T | CA402952320 | ABCA7 | c.2003A>T (p.Tyr668Phe) n.2683A>T c.1589A>T (p.Tyr530Phe) n.421A>T c.1547A>T (p.Tyr516Phe) n.2221A>T | |
19 | g.1047315C>A | CA402952323 | ABCA7 | c.2004C>A (p.Tyr668Ter) n.2684C>A c.1590C>A (p.Tyr530Ter) n.422C>A c.1548C>A (p.Tyr516Ter) n.2222C>A | dbSNP gnomAD v4 |
19 | g.1047315C= | CA2317482879 | ABCA7 | c.2004C= (p.Tyr668=) n.2684C= c.1590C= (p.Tyr530=) n.422C= c.1548C= (p.Tyr516=) n.2222C= | |
19 | g.1047315C>G | CA402952324 | ABCA7 | c.2004C>G (p.Tyr668Ter) n.2684C>G c.1590C>G (p.Tyr530Ter) n.422C>G c.1548C>G (p.Tyr516Ter) n.2222C>G | |
19 | g.1047315C>T | CA504887630 | ABCA7 | c.2004C>T (p.Tyr668=) n.2684C>T c.1590C>T (p.Tyr530=) n.422C>T c.1548C>T (p.Tyr516=) n.2222C>T | gnomAD v4 |
19 | g.1047316C>A | CA402952325 | ABCA7 | c.2005C>A (p.Leu669Met) n.2685C>A c.1591C>A (p.Leu531Met) n.423C>A c.1549C>A (p.Leu517Met) n.2223C>A | |
19 | g.1047316C>G | CA402952326 | ABCA7 | c.2005C>G (p.Leu669Val) n.2685C>G c.1591C>G (p.Leu531Val) n.423C>G c.1549C>G (p.Leu517Val) n.2223C>G | |
19 | g.1047316C>T | CA504887631 | ABCA7 | c.2005C>T (p.Leu669=) n.2685C>T c.1591C>T (p.Leu531=) n.423C>T c.1549C>T (p.Leu517=) n.2223C>T | |
19 | g.1047317T>A | CA402952328 | ABCA7 | c.2006T>A (p.Leu669Gln) n.2686T>A c.1592T>A (p.Leu531Gln) n.424T>A c.1550T>A (p.Leu517Gln) n.2224T>A | |
19 | g.1047317T>C | CA402952332 | ABCA7 | c.2006T>C (p.Leu669Pro) n.2686T>C c.1592T>C (p.Leu531Pro) n.424T>C c.1550T>C (p.Leu517Pro) n.2224T>C | |
19 | g.1047317T>G | CA402952330 | ABCA7 | c.2006T>G (p.Leu669Arg) n.2686T>G c.1592T>G (p.Leu531Arg) n.424T>G c.1550T>G (p.Leu517Arg) n.2224T>G | |
19 | g.1047318G>A | CA9033270 | ABCA7 | c.2007G>A (p.Leu669=) n.2687G>A c.1593G>A (p.Leu531=) n.425G>A c.1551G>A (p.Leu517=) n.2225G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047318G>C | CA504887632 | ABCA7 | c.2007G>C (p.Leu669=) n.2687G>C c.1593G>C (p.Leu531=) n.425G>C c.1551G>C (p.Leu517=) n.2225G>C | |
19 | g.1047318G= | CA2317482880 | ABCA7 | c.2007G= (p.Leu669=) n.2687G= c.1593G= (p.Leu531=) n.425G= c.1551G= (p.Leu517=) n.2225G= | |
19 | g.1047318G>T | CA504887633 | ABCA7 | c.2007G>T (p.Leu669=) n.2687G>T c.1593G>T (p.Leu531=) n.425G>T c.1551G>T (p.Leu517=) n.2225G>T | gnomAD v4 |
19 | g.1047319C>A | CA402952335 | ABCA7 | c.2008C>A (p.Pro670Thr) n.2688C>A c.1594C>A (p.Pro532Thr) n.426C>A c.1552C>A (p.Pro518Thr) n.2226C>A | |
19 | g.1047319C>G | CA402952336 | ABCA7 | c.2008C>G (p.Pro670Ala) n.2688C>G c.1594C>G (p.Pro532Ala) n.426C>G c.1552C>G (p.Pro518Ala) n.2226C>G | |
19 | g.1047319C>T | CA402952337 | ABCA7 | c.2008C>T (p.Pro670Ser) n.2688C>T c.1594C>T (p.Pro532Ser) n.426C>T c.1552C>T (p.Pro518Ser) n.2226C>T | |
19 | g.1047320C>A | CA402952340 | ABCA7 | c.2009C>A (p.Pro670His) n.2689C>A c.1595C>A (p.Pro532His) n.427C>A c.1553C>A (p.Pro518His) n.2227C>A | |
19 | g.1047320C>G | CA402952342 | ABCA7 | c.2009C>G (p.Pro670Arg) n.2689C>G c.1595C>G (p.Pro532Arg) n.427C>G c.1553C>G (p.Pro518Arg) n.2227C>G | |
19 | g.1047320C>T | CA402952343 | ABCA7 | c.2009C>T (p.Pro670Leu) n.2689C>T c.1595C>T (p.Pro532Leu) n.427C>T c.1553C>T (p.Pro518Leu) n.2227C>T | gnomAD v4 |
19 | g.1047321C>A | CA504887634 | ABCA7 | c.2010C>A (p.Pro670=) n.2690C>A c.1596C>A (p.Pro532=) n.428C>A c.1554C>A (p.Pro518=) n.2228C>A | gnomAD v4 |
19 | g.1047321C>G | CA504887635 | ABCA7 | c.2010C>G (p.Pro670=) n.2690C>G c.1596C>G (p.Pro532=) n.428C>G c.1554C>G (p.Pro518=) n.2228C>G | |
19 | g.1047321C>T | CA504887636 | ABCA7 | c.2010C>T (p.Pro670=) n.2690C>T c.1596C>T (p.Pro532=) n.428C>T c.1554C>T (p.Pro518=) n.2228C>T | |
19 | g.1047322T>A | CA402952350 | ABCA7 | c.2011T>A (p.Tyr671Asn) n.2691T>A c.1597T>A (p.Tyr533Asn) n.429T>A c.1555T>A (p.Tyr519Asn) n.2229T>A | |
19 | g.1047322T>C | CA402952346 | ABCA7 | c.2011T>C (p.Tyr671His) n.2691T>C c.1597T>C (p.Tyr533His) n.429T>C c.1555T>C (p.Tyr519His) n.2229T>C | |
19 | g.1047322T>G | CA402952348 | ABCA7 | c.2011T>G (p.Tyr671Asp) n.2691T>G c.1597T>G (p.Tyr533Asp) n.429T>G c.1555T>G (p.Tyr519Asp) n.2229T>G | |
19 | g.1047323A= | CA2317482881 | ABCA7 | c.2012A= (p.Tyr671=) n.2692A= c.1598A= (p.Tyr533=) n.430A= c.1556A= (p.Tyr519=) n.2230A= | |
19 | g.1047323A>C | CA402952353 | ABCA7 | c.2012A>C (p.Tyr671Ser) n.2692A>C c.1598A>C (p.Tyr533Ser) n.430A>C c.1556A>C (p.Tyr519Ser) n.2230A>C | |
19 | g.1047323A>G | CA9033271 | ABCA7 | c.2012A>G (p.Tyr671Cys) n.2692A>G c.1598A>G (p.Tyr533Cys) n.430A>G c.1556A>G (p.Tyr519Cys) n.2230A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047323A>T | CA402952355 | ABCA7 | c.2012A>T (p.Tyr671Phe) n.2692A>T c.1598A>T (p.Tyr533Phe) n.430A>T c.1556A>T (p.Tyr519Phe) n.2230A>T | |
19 | g.1047324C>A | CA402952357 | ABCA7 | c.2013C>A (p.Tyr671Ter) n.2693C>A c.1599C>A (p.Tyr533Ter) n.431C>A c.1557C>A (p.Tyr519Ter) n.2231C>A | |
19 | g.1047324C= | CA2317482882 | ABCA7 | c.2013C= (p.Tyr671=) n.2693C= c.1599C= (p.Tyr533=) n.431C= c.1557C= (p.Tyr519=) n.2231C= | |
19 | g.1047324C>G | CA402952359 | ABCA7 | c.2013C>G (p.Tyr671Ter) n.2693C>G c.1599C>G (p.Tyr533Ter) n.431C>G c.1557C>G (p.Tyr519Ter) n.2231C>G | gnomAD v4 |
19 | g.1047324C>T | CA303995639 | ABCA7 | c.2013C>T (p.Tyr671=) n.2693C>T c.1599C>T (p.Tyr533=) n.431C>T c.1557C>T (p.Tyr519=) n.2231C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1047325G>A | CA9033272 | ABCA7 | c.2014G>A (p.Val672Met) n.2694G>A c.1600G>A (p.Val534Met) n.432G>A c.1558G>A (p.Val520Met) n.2232G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047325G>C | CA402952361 | ABCA7 | c.2014G>C (p.Val672Leu) n.2694G>C c.1600G>C (p.Val534Leu) n.432G>C c.1558G>C (p.Val520Leu) n.2232G>C | |
19 | g.1047325G= | CA2317482883 | ABCA7 | c.2014G= (p.Val672=) n.2694G= c.1600G= (p.Val534=) n.432G= c.1558G= (p.Val520=) n.2232G= | |
19 | g.1047325G>T | CA402952360 | ABCA7 | c.2014G>T (p.Val672Leu) n.2694G>T c.1600G>T (p.Val534Leu) n.432G>T c.1558G>T (p.Val520Leu) n.2232G>T | gnomAD v4 |
19 | g.1047326T>A | CA402952362 | ABCA7 | c.2015T>A (p.Val672Glu) n.2695T>A c.1601T>A (p.Val534Glu) n.433T>A c.1559T>A (p.Val520Glu) n.2233T>A | |
19 | g.1047326T>C | CA402952363 | ABCA7 | c.2015T>C (p.Val672Ala) n.2695T>C c.1601T>C (p.Val534Ala) n.433T>C c.1559T>C (p.Val520Ala) n.2233T>C | dbSNP gnomAD v4 |
19 | g.1047326T>G | CA402952364 | ABCA7 | c.2015T>G (p.Val672Gly) n.2695T>G c.1601T>G (p.Val534Gly) n.433T>G c.1559T>G (p.Val520Gly) n.2233T>G | |
19 | g.1047326T= | CA2317482884 | ABCA7 | c.2015T= (p.Val672=) n.2695T= c.1601T= (p.Val534=) n.433T= c.1559T= (p.Val520=) n.2233T= | |
19 | g.1047327G>A | CA504887637 | ABCA7 | c.2016G>A (p.Val672=) n.2696G>A c.1602G>A (p.Val534=) n.434G>A c.1560G>A (p.Val520=) n.2234G>A | gnomAD v4 |
19 | g.1047327G>C | CA504887638 | ABCA7 | c.2016G>C (p.Val672=) n.2696G>C c.1602G>C (p.Val534=) n.434G>C c.1560G>C (p.Val520=) n.2234G>C | |
19 | g.1047327G>T | CA504887639 | ABCA7 | c.2016G>T (p.Val672=) n.2696G>T c.1602G>T (p.Val534=) n.434G>T c.1560G>T (p.Val520=) n.2234G>T | gnomAD v4 |
19 | g.1047328C>A | CA402952366 | ABCA7 | c.2017C>A (p.Leu673Met) n.2697C>A c.1603C>A (p.Leu535Met) n.435C>A c.1561C>A (p.Leu521Met) n.2235C>A | gnomAD v4 |
19 | g.1047328C= | CA2317482885 | ABCA7 | c.2017C= (p.Leu673=) n.2697C= c.1603C= (p.Leu535=) n.435C= c.1561C= (p.Leu521=) n.2235C= | |
19 | g.1047328C>G | CA402952368 | ABCA7 | c.2017C>G (p.Leu673Val) n.2697C>G c.1603C>G (p.Leu535Val) n.435C>G c.1561C>G (p.Leu521Val) n.2235C>G | |
19 | g.1047328C>T | CA504887640 | ABCA7 | c.2017C>T (p.Leu673=) n.2697C>T c.1603C>T (p.Leu535=) n.435C>T c.1561C>T (p.Leu521=) n.2235C>T | dbSNP gnomAD v4 |
19 | g.1047329T>A | CA402952369 | ABCA7 | c.2018T>A (p.Leu673Gln) n.2698T>A c.1604T>A (p.Leu535Gln) n.436T>A c.1562T>A (p.Leu521Gln) n.2236T>A | |
19 | g.1047329T>C | CA402952370 | ABCA7 | c.2018T>C (p.Leu673Pro) n.2698T>C c.1604T>C (p.Leu535Pro) n.436T>C c.1562T>C (p.Leu521Pro) n.2236T>C | gnomAD v4 |
19 | g.1047329T>G | CA402952371 | ABCA7 | c.2018T>G (p.Leu673Arg) n.2698T>G c.1604T>G (p.Leu535Arg) n.436T>G c.1562T>G (p.Leu521Arg) n.2236T>G | |
19 | g.1047335_1047336del | CA2588185561 | ABCA7 | c.2024_2025del (p.Val675GlyfsTer?) n.2704_2705del c.1610_1611del (p.Val537GlyfsTer?) n.442_443del c.1568_1569del (p.Val523GlyfsTer?) n.2242_2243del | gnomAD v4 |
19 | g.1047330G>A | CA504887641 | ABCA7 | c.2019G>A (p.Leu673=) n.2699G>A c.1605G>A (p.Leu535=) n.437G>A c.1563G>A (p.Leu521=) n.2237G>A | |
19 | g.1047330G>C | CA504887642 | ABCA7 | c.2019G>C (p.Leu673=) n.2699G>C c.1605G>C (p.Leu535=) n.437G>C c.1563G>C (p.Leu521=) n.2237G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047330G= | CA2317482886 | ABCA7 | c.2019G= (p.Leu673=) n.2699G= c.1605G= (p.Leu535=) n.437G= c.1563G= (p.Leu521=) n.2237G= | |
19 | g.1047330G>T | CA504887643 | ABCA7 | c.2019G>T (p.Leu673=) n.2699G>T c.1605G>T (p.Leu535=) n.437G>T c.1563G>T (p.Leu521=) n.2237G>T | gnomAD v4 |
19 | g.1047331T>A | CA402952372 | ABCA7 | c.2020T>A (p.Cys674Ser) n.2700T>A c.1606T>A (p.Cys536Ser) n.438T>A c.1564T>A (p.Cys522Ser) n.2238T>A | |
19 | g.1047331T>C | CA402952374 | ABCA7 | c.2020T>C (p.Cys674Arg) n.2700T>C c.1606T>C (p.Cys536Arg) n.438T>C c.1564T>C (p.Cys522Arg) n.2238T>C | |
19 | g.1047331T>G | CA402952377 | ABCA7 | c.2020T>G (p.Cys674Gly) n.2700T>G c.1606T>G (p.Cys536Gly) n.438T>G c.1564T>G (p.Cys522Gly) n.2238T>G | |
19 | g.1047332G>A | CA9033273 | ABCA7 | c.2021G>A (p.Cys674Tyr) n.2701G>A c.1607G>A (p.Cys536Tyr) n.439G>A c.1565G>A (p.Cys522Tyr) n.2239G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047332G>C | CA402952382 | ABCA7 | c.2021G>C (p.Cys674Ser) n.2701G>C c.1607G>C (p.Cys536Ser) n.439G>C c.1565G>C (p.Cys522Ser) n.2239G>C | |
19 | g.1047332G= | CA2317482887 | ABCA7 | c.2021G= (p.Cys674=) n.2701G= c.1607G= (p.Cys536=) n.439G= c.1565G= (p.Cys522=) n.2239G= | |
19 | g.1047332G>T | CA402952380 | ABCA7 | c.2021G>T (p.Cys674Phe) n.2701G>T c.1607G>T (p.Cys536Phe) n.439G>T c.1565G>T (p.Cys522Phe) n.2239G>T | dbSNP gnomAD v4 |
19 | g.1047333T>A | CA402952383 | ABCA7 | c.2022T>A (p.Cys674Ter) n.2702T>A c.1608T>A (p.Cys536Ter) n.440T>A c.1566T>A (p.Cys522Ter) n.2240T>A | |
19 | g.1047333T>C | CA9033274 | ABCA7 | c.2022T>C (p.Cys674=) n.2702T>C c.1608T>C (p.Cys536=) n.440T>C c.1566T>C (p.Cys522=) n.2240T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047333T>G | CA402952385 | ABCA7 | c.2022T>G (p.Cys674Trp) n.2702T>G c.1608T>G (p.Cys536Trp) n.440T>G c.1566T>G (p.Cys522Trp) n.2240T>G | |
19 | g.1047333T= | CA2317482888 | ABCA7 | c.2022T= (p.Cys674=) n.2702T= c.1608T= (p.Cys536=) n.440T= c.1566T= (p.Cys522=) n.2240T= | |
19 | g.1047334G>A | CA402952388 | ABCA7 | c.2023G>A (p.Val675Met) n.2703G>A c.1609G>A (p.Val537Met) n.441G>A c.1567G>A (p.Val523Met) n.2241G>A | |
19 | g.1047334G>C | CA402952390 | ABCA7 | c.2023G>C (p.Val675Leu) n.2703G>C c.1609G>C (p.Val537Leu) n.441G>C c.1567G>C (p.Val523Leu) n.2241G>C | |
19 | g.1047334G>T | CA402952392 | ABCA7 | c.2023G>T (p.Val675Leu) n.2703G>T c.1609G>T (p.Val537Leu) n.441G>T c.1567G>T (p.Val523Leu) n.2241G>T | gnomAD v4 |
19 | g.1047335T>A | CA402952394 | ABCA7 | c.2024T>A (p.Val675Glu) n.2704T>A c.1610T>A (p.Val537Glu) n.442T>A c.1568T>A (p.Val523Glu) n.2242T>A | |
19 | g.1047335T>C | CA402952396 | ABCA7 | c.2024T>C (p.Val675Ala) n.2704T>C c.1610T>C (p.Val537Ala) n.442T>C c.1568T>C (p.Val523Ala) n.2242T>C | |
19 | g.1047335T>G | CA402952398 | ABCA7 | c.2024T>G (p.Val675Gly) n.2704T>G c.1610T>G (p.Val537Gly) n.442T>G c.1568T>G (p.Val523Gly) n.2242T>G | |
19 | g.1047336G>A | CA504887644 | ABCA7 | c.2025G>A (p.Val675=) n.2705G>A c.1611G>A (p.Val537=) n.443G>A c.1569G>A (p.Val523=) n.2243G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047336G>C | CA504887645 | ABCA7 | c.2025G>C (p.Val675=) n.2705G>C c.1611G>C (p.Val537=) n.443G>C c.1569G>C (p.Val523=) n.2243G>C | gnomAD v4 |
19 | g.1047336G= | CA2317482889 | ABCA7 | c.2025G= (p.Val675=) n.2705G= c.1611G= (p.Val537=) n.443G= c.1569G= (p.Val523=) n.2243G= | |
19 | g.1047336G>T | CA504887646 | ABCA7 | c.2025G>T (p.Val675=) n.2705G>T c.1611G>T (p.Val537=) n.443G>T c.1569G>T (p.Val523=) n.2243G>T | gnomAD v4 |
19 | g.1047337G>A | CA9033275 | ABCA7 | c.2026G>A (p.Ala676Thr) n.2706G>A c.1612G>A (p.Ala538Thr) n.444G>A c.1570G>A (p.Ala524Thr) n.2244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047337G>C | CA402952401 | ABCA7 | c.2026G>C (p.Ala676Pro) n.2706G>C c.1612G>C (p.Ala538Pro) n.444G>C c.1570G>C (p.Ala524Pro) n.2244G>C | dbSNP gnomAD v4 |
19 | g.1047337G= | CA2317482890 | ABCA7 | c.2026G= (p.Ala676=) n.2706G= c.1612G= (p.Ala538=) n.444G= c.1570G= (p.Ala524=) n.2244G= | |
19 | g.1047337G>T | CA402952402 | ABCA7 | c.2026G>T (p.Ala676Ser) n.2706G>T c.1612G>T (p.Ala538Ser) n.444G>T c.1570G>T (p.Ala524Ser) n.2244G>T | gnomAD v4 |
19 | g.1047338C>A | CA402952406 | ABCA7 | c.2027C>A (p.Ala676Asp) n.2707C>A c.1613C>A (p.Ala538Asp) n.445C>A c.1571C>A (p.Ala524Asp) n.2245C>A | gnomAD v4 |
19 | g.1047338C>G | CA402952403 | ABCA7 | c.2027C>G (p.Ala676Gly) n.2707C>G c.1613C>G (p.Ala538Gly) n.445C>G c.1571C>G (p.Ala524Gly) n.2245C>G | |
19 | g.1047338C>T | CA402952404 | ABCA7 | c.2027C>T (p.Ala676Val) n.2707C>T c.1613C>T (p.Ala538Val) n.445C>T c.1571C>T (p.Ala524Val) n.2245C>T | |
19 | g.1047339T>A | CA504887647 | ABCA7 | c.2028T>A (p.Ala676=) n.2708T>A c.1614T>A (p.Ala538=) n.446T>A c.1572T>A (p.Ala524=) n.2246T>A | |
19 | g.1047339T>C | CA504887648 | ABCA7 | c.2028T>C (p.Ala676=) n.2708T>C c.1614T>C (p.Ala538=) n.446T>C c.1572T>C (p.Ala524=) n.2246T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047339T>G | CA504887649 | ABCA7 | c.2028T>G (p.Ala676=) n.2708T>G c.1614T>G (p.Ala538=) n.446T>G c.1572T>G (p.Ala524=) n.2246T>G | |
19 | g.1047339T= | CA2317482891 | ABCA7 | c.2028T= (p.Ala676=) n.2708T= c.1614T= (p.Ala538=) n.446T= c.1572T= (p.Ala524=) n.2246T= | |
19 | g.1047340T>A | CA402952408 | ABCA7 | c.2029T>A (p.Trp677Arg) n.2709T>A c.1615T>A (p.Trp539Arg) n.447T>A c.1573T>A (p.Trp525Arg) n.2247T>A | |
19 | g.1047340T>C | CA402952410 | ABCA7 | c.2029T>C (p.Trp677Arg) n.2709T>C c.1615T>C (p.Trp539Arg) n.447T>C c.1573T>C (p.Trp525Arg) n.2247T>C | |
19 | g.1047340T>G | CA402952411 | ABCA7 | c.2029T>G (p.Trp677Gly) n.2709T>G c.1615T>G (p.Trp539Gly) n.447T>G c.1573T>G (p.Trp525Gly) n.2247T>G | |
19 | g.1047341G>A | CA402952413 | ABCA7 | c.2030G>A (p.Trp677Ter) n.2710G>A c.1616G>A (p.Trp539Ter) n.448G>A c.1574G>A (p.Trp525Ter) n.2248G>A | gnomAD v4 COSMIC |
19 | g.1047341G>C | CA402952414 | ABCA7 | c.2030G>C (p.Trp677Ser) n.2710G>C c.1616G>C (p.Trp539Ser) n.448G>C c.1574G>C (p.Trp525Ser) n.2248G>C | dbSNP |
19 | g.1047341G>T | CA402952415 | ABCA7 | c.2030G>T (p.Trp677Leu) n.2710G>T c.1616G>T (p.Trp539Leu) n.448G>T c.1574G>T (p.Trp525Leu) n.2248G>T | gnomAD v4 |
19 | g.1047342G>A | CA402952417 | ABCA7 | c.2031G>A (p.Trp677Ter) n.2711G>A c.1617G>A (p.Trp539Ter) n.449G>A c.1575G>A (p.Trp525Ter) n.2249G>A | gnomAD v4 |
19 | g.1047342G>C | CA402952419 | ABCA7 | c.2031G>C (p.Trp677Cys) n.2711G>C c.1617G>C (p.Trp539Cys) n.449G>C c.1575G>C (p.Trp525Cys) n.2249G>C | |
19 | g.1047342G>T | CA402952421 | ABCA7 | c.2031G>T (p.Trp677Cys) n.2711G>T c.1617G>T (p.Trp539Cys) n.449G>T c.1575G>T (p.Trp525Cys) n.2249G>T | gnomAD v4 |
19 | g.1047343C>A | CA504887650 | ABCA7 | c.2032C>A (p.Arg678=) n.2712C>A c.1618C>A (p.Arg540=) n.450C>A c.1576C>A (p.Arg526=) n.2250C>A | gnomAD v4 COSMIC |
19 | g.1047343C= | CA2317482892 | ABCA7 | c.2032C= (p.Arg678=) n.2712C= c.1618C= (p.Arg540=) n.450C= c.1576C= (p.Arg526=) n.2250C= | |
19 | g.1047343C>G | CA9033276 | ABCA7 | c.2032C>G (p.Arg678Gly) n.2712C>G c.1618C>G (p.Arg540Gly) n.450C>G c.1576C>G (p.Arg526Gly) n.2250C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047343C>T | CA402952424 | ABCA7 | c.2032C>T (p.Arg678Trp) n.2712C>T c.1618C>T (p.Arg540Trp) n.450C>T c.1576C>T (p.Arg526Trp) n.2250C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047344G>A | CA402952429 | ABCA7 | c.2033G>A (p.Arg678Gln) n.2713G>A c.1619G>A (p.Arg540Gln) n.451G>A c.1577G>A (p.Arg526Gln) n.2251G>A | gnomAD v4 |
19 | g.1047344G>C | CA402952428 | ABCA7 | c.2033G>C (p.Arg678Pro) n.2713G>C c.1619G>C (p.Arg540Pro) n.451G>C c.1577G>C (p.Arg526Pro) n.2251G>C | |
19 | g.1047344G>T | CA402952426 | ABCA7 | c.2033G>T (p.Arg678Leu) n.2713G>T c.1619G>T (p.Arg540Leu) n.451G>T c.1577G>T (p.Arg526Leu) n.2251G>T | gnomAD v4 |
19 | g.1047346dup | CA2317482893 | ABCA7 | c.2035dup (p.Asp679GlyfsTer?) n.2715dup c.1621dup (p.Asp541GlyfsTer?) n.453dup c.1579dup (p.Asp527GlyfsTer?) n.2253dup | dbSNP |
19 | g.1047345G>A | CA504887689 | ABCA7 | c.2034G>A (p.Arg678=) n.2714G>A c.1620G>A (p.Arg540=) n.452G>A c.1578G>A (p.Arg526=) n.2252G>A | dbSNP gnomAD v4 |
19 | g.1047345G>C | CA504887688 | ABCA7 | c.2034G>C (p.Arg678=) n.2714G>C c.1620G>C (p.Arg540=) n.452G>C c.1578G>C (p.Arg526=) n.2252G>C | |
19 | g.1047345G= | CA2317482894 | ABCA7 | c.2034G= (p.Arg678=) n.2714G= c.1620G= (p.Arg540=) n.452G= c.1578G= (p.Arg526=) n.2252G= | |
19 | g.1047345G>T | CA504887687 | ABCA7 | c.2034G>T (p.Arg678=) n.2714G>T c.1620G>T (p.Arg540=) n.452G>T c.1578G>T (p.Arg526=) n.2252G>T | gnomAD v4 |
19 | g.1047346G>A | CA402952431 | ABCA7 | c.2035G>A (p.Asp679Asn) n.2715G>A c.1621G>A (p.Asp541Asn) n.453G>A c.1579G>A (p.Asp527Asn) n.2253G>A | gnomAD v4 |
19 | g.1047346G>C | CA402952436 | ABCA7 | c.2035G>C (p.Asp679His) n.2715G>C c.1621G>C (p.Asp541His) n.453G>C c.1579G>C (p.Asp527His) n.2253G>C | |
19 | g.1047346G= | CA2317482895 | ABCA7 | c.2035G= (p.Asp679=) n.2715G= c.1621G= (p.Asp541=) n.453G= c.1579G= (p.Asp527=) n.2253G= | |
19 | g.1047346G>T | CA402952434 | ABCA7 | c.2035G>T (p.Asp679Tyr) n.2715G>T c.1621G>T (p.Asp541Tyr) n.453G>T c.1579G>T (p.Asp527Tyr) n.2253G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047347A= | CA2317482896 | ABCA7 | c.2036A= (p.Asp679=) n.2716A= c.1622A= (p.Asp541=) n.454A= c.1580A= (p.Asp527=) n.2254A= | |
19 | g.1047347A>C | CA402952438 | ABCA7 | c.2036A>C (p.Asp679Ala) n.2716A>C c.1622A>C (p.Asp541Ala) n.454A>C c.1580A>C (p.Asp527Ala) n.2254A>C | |
19 | g.1047347A>G | CA402952439 | ABCA7 | c.2036A>G (p.Asp679Gly) n.2716A>G c.1622A>G (p.Asp541Gly) n.454A>G c.1580A>G (p.Asp527Gly) n.2254A>G | gnomAD v4 |
19 | g.1047347A>T | CA402952440 | ABCA7 | c.2036A>T (p.Asp679Val) n.2716A>T c.1622A>T (p.Asp541Val) n.454A>T c.1580A>T (p.Asp527Val) n.2254A>T | dbSNP |
19 | g.1047348C>A | CA402952442 | ABCA7 | c.2037C>A (p.Asp679Glu) n.2717C>A c.1623C>A (p.Asp541Glu) n.455C>A c.1581C>A (p.Asp527Glu) n.2255C>A | gnomAD v4 |
19 | g.1047348C>G | CA402952444 | ABCA7 | c.2037C>G (p.Asp679Glu) n.2717C>G c.1623C>G (p.Asp541Glu) n.455C>G c.1581C>G (p.Asp527Glu) n.2255C>G | |
19 | g.1047348C>T | CA504887690 | ABCA7 | c.2037C>T (p.Asp679=) n.2717C>T c.1623C>T (p.Asp541=) n.455C>T c.1581C>T (p.Asp527=) n.2255C>T | gnomAD v4 |
19 | g.1047348_1047358delinsCCGGCTGCCCG | CA2317482897 | ABCA7 | c.2037_2047delinsCCGGCTGCCCG (p.Asp679=) n.2717_2727delinsCCGGCTGCCCG c.1623_1633delinsCCGGCTGCCCG (p.Asp541=) n.455_465delinsCCGGCTGCCCG c.1581_1591delinsCCGGCTGCCCG (p.Asp527=) n.2255_2265delinsCCGGCTGCCCG | |
19 | g.1047349C>A | CA504887691 | ABCA7 | c.2038C>A (p.Arg680=) n.2718C>A c.1624C>A (p.Arg542=) n.456C>A c.1582C>A (p.Arg528=) n.2256C>A | gnomAD v4 |
19 | g.1047349C= | CA2317482898 | ABCA7 | c.2038C= (p.Arg680=) n.2718C= c.1624C= (p.Arg542=) n.456C= c.1582C= (p.Arg528=) n.2256C= | |
19 | g.1047349C>G | CA402952446 | ABCA7 | c.2038C>G (p.Arg680Gly) n.2718C>G c.1624C>G (p.Arg542Gly) n.456C>G c.1582C>G (p.Arg528Gly) n.2256C>G | |
19 | g.1047349C>T | CA303995676 | ABCA7 | c.2038C>T (p.Arg680Trp) n.2718C>T c.1624C>T (p.Arg542Trp) n.456C>T c.1582C>T (p.Arg528Trp) n.2256C>T | dbSNP gnomAD v4 |
19 | g.1047352_1047361del | CA783177299 | ABCA7 | c.2041_2050del (p.Leu681ValfsTer?) n.2721_2730del c.1627_1636del (p.Leu543ValfsTer?) n.459_468del c.1585_1594del (p.Leu529ValfsTer?) n.2259_2268del | dbSNP gnomAD v4 |
19 | g.1047350G>A | CA9033277 | ABCA7 | c.2039G>A (p.Arg680Gln) n.2719G>A c.1625G>A (p.Arg542Gln) n.457G>A c.1583G>A (p.Arg528Gln) n.2257G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047350G>C | CA402952450 | ABCA7 | c.2039G>C (p.Arg680Pro) n.2719G>C c.1625G>C (p.Arg542Pro) n.457G>C c.1583G>C (p.Arg528Pro) n.2257G>C | dbSNP |
19 | g.1047350G= | CA2317482899 | ABCA7 | c.2039G= (p.Arg680=) n.2719G= c.1625G= (p.Arg542=) n.457G= c.1583G= (p.Arg528=) n.2257G= | |
19 | g.1047350G>T | CA402952452 | ABCA7 | c.2039G>T (p.Arg680Leu) n.2719G>T c.1625G>T (p.Arg542Leu) n.457G>T c.1583G>T (p.Arg528Leu) n.2257G>T | gnomAD v4 |
19 | g.1047351G>A | CA303995691 | ABCA7 | c.2040G>A (p.Arg680=) n.2720G>A c.1626G>A (p.Arg542=) n.458G>A c.1584G>A (p.Arg528=) n.2258G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1047351G>C | CA504887692 | ABCA7 | c.2040G>C (p.Arg680=) n.2720G>C c.1626G>C (p.Arg542=) n.458G>C c.1584G>C (p.Arg528=) n.2258G>C | |
19 | g.1047351G= | CA2317482900 | ABCA7 | c.2040G= (p.Arg680=) n.2720G= c.1626G= (p.Arg542=) n.458G= c.1584G= (p.Arg528=) n.2258G= | |
19 | g.1047351G>T | CA504887693 | ABCA7 | c.2040G>T (p.Arg680=) n.2720G>T c.1626G>T (p.Arg542=) n.458G>T c.1584G>T (p.Arg528=) n.2258G>T | gnomAD v4 |
19 | g.1047352C>A | CA402952455 | ABCA7 | c.2041C>A (p.Leu681Met) n.2721C>A c.1627C>A (p.Leu543Met) n.459C>A c.1585C>A (p.Leu529Met) n.2259C>A | gnomAD v4 |
19 | g.1047352C>G | CA402952456 | ABCA7 | c.2041C>G (p.Leu681Val) n.2721C>G c.1627C>G (p.Leu543Val) n.459C>G c.1585C>G (p.Leu529Val) n.2259C>G | |
19 | g.1047352C>T | CA504887694 | ABCA7 | c.2041C>T (p.Leu681=) n.2721C>T c.1627C>T (p.Leu543=) n.459C>T c.1585C>T (p.Leu529=) n.2259C>T | gnomAD v4 |
19 | g.1047353T>A | CA402952457 | ABCA7 | c.2042T>A (p.Leu681Gln) n.2722T>A c.1628T>A (p.Leu543Gln) n.460T>A c.1586T>A (p.Leu529Gln) n.2260T>A | |
19 | g.1047353T>C | CA402952460 | ABCA7 | c.2042T>C (p.Leu681Pro) n.2722T>C c.1628T>C (p.Leu543Pro) n.460T>C c.1586T>C (p.Leu529Pro) n.2260T>C | COSMIC |
19 | g.1047353T>G | CA402952458 | ABCA7 | c.2042T>G (p.Leu681Arg) n.2722T>G c.1628T>G (p.Leu543Arg) n.460T>G c.1586T>G (p.Leu529Arg) n.2260T>G | |
19 | g.1047355_1047372del | CA2588185562 | ABCA7 | c.2044_2061del (p.Pro682_Val687del) n.2724_2741del c.1630_1647del (p.Pro544_Val549del) n.462_479del c.1588_1605del (p.Pro530_Val535del) n.2262_2279del | gnomAD v4 |
19 | g.1047354G>A | CA504887695 | ABCA7 | c.2043G>A (p.Leu681=) n.2723G>A c.1629G>A (p.Leu543=) n.461G>A c.1587G>A (p.Leu529=) n.2261G>A | gnomAD v4 |
19 | g.1047354G>C | CA504887696 | ABCA7 | c.2043G>C (p.Leu681=) n.2723G>C c.1629G>C (p.Leu543=) n.461G>C c.1587G>C (p.Leu529=) n.2261G>C | |
19 | g.1047354G= | CA2317482901 | ABCA7 | c.2043G= (p.Leu681=) n.2723G= c.1629G= (p.Leu543=) n.461G= c.1587G= (p.Leu529=) n.2261G= | |
19 | g.1047354G>T | CA504887697 | ABCA7 | c.2043G>T (p.Leu681=) n.2723G>T c.1629G>T (p.Leu543=) n.461G>T c.1587G>T (p.Leu529=) n.2261G>T | gnomAD v4 |
19 | g.1047355C>A | CA402952462 | ABCA7 | c.2044C>A (p.Pro682Thr) n.2724C>A c.1630C>A (p.Pro544Thr) n.462C>A c.1588C>A (p.Pro530Thr) n.2262C>A | gnomAD v4 |
19 | g.1047355C= | CA2317482902 | ABCA7 | c.2044C= (p.Pro682=) n.2724C= c.1630C= (p.Pro544=) n.462C= c.1588C= (p.Pro530=) n.2262C= | |
19 | g.1047355C>G | CA402952464 | ABCA7 | c.2044C>G (p.Pro682Ala) n.2724C>G c.1630C>G (p.Pro544Ala) n.462C>G c.1588C>G (p.Pro530Ala) n.2262C>G | |
19 | g.1047355C>T | CA402952466 | ABCA7 | c.2044C>T (p.Pro682Ser) n.2724C>T c.1630C>T (p.Pro544Ser) n.462C>T c.1588C>T (p.Pro530Ser) n.2262C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047357dup | CA783177311 | ABCA7 | c.2046dup (p.Ala683ArgfsTer?) n.2726dup c.1632dup (p.Ala545ArgfsTer?) n.464dup c.1590dup (p.Ala531ArgfsTer?) n.2264dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047356C>A | CA402952468 | ABCA7 | c.2045C>A (p.Pro682His) n.2725C>A c.1631C>A (p.Pro544His) n.463C>A c.1589C>A (p.Pro530His) n.2263C>A | gnomAD v4 |
19 | g.1047356C= | CA2317482903 | ABCA7 | c.2045C= (p.Pro682=) n.2725C= c.1631C= (p.Pro544=) n.463C= c.1589C= (p.Pro530=) n.2263C= | |
19 | g.1047356C>G | CA402952469 | ABCA7 | c.2045C>G (p.Pro682Arg) n.2725C>G c.1631C>G (p.Pro544Arg) n.463C>G c.1589C>G (p.Pro530Arg) n.2263C>G | |
19 | g.1047356C>T | CA402952470 | ABCA7 | c.2045C>T (p.Pro682Leu) n.2725C>T c.1631C>T (p.Pro544Leu) n.463C>T c.1589C>T (p.Pro530Leu) n.2263C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047357C>A | CA504887698 | ABCA7 | c.2046C>A (p.Pro682=) n.2726C>A c.1632C>A (p.Pro544=) n.464C>A c.1590C>A (p.Pro530=) n.2264C>A | gnomAD v4 |
19 | g.1047357C= | CA2317482904 | ABCA7 | c.2046C= (p.Pro682=) n.2726C= c.1632C= (p.Pro544=) n.464C= c.1590C= (p.Pro530=) n.2264C= | |
19 | g.1047357C>G | CA504887699 | ABCA7 | c.2046C>G (p.Pro682=) n.2726C>G c.1632C>G (p.Pro544=) n.464C>G c.1590C>G (p.Pro530=) n.2264C>G | |
19 | g.1047357C>T | CA9033278 | ABCA7 | c.2046C>T (p.Pro682=) n.2726C>T c.1632C>T (p.Pro544=) n.464C>T c.1590C>T (p.Pro530=) n.2264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047358G>A | CA9033279 | ABCA7 | c.2047G>A (p.Ala683Thr) n.2727G>A c.1633G>A (p.Ala545Thr) n.465G>A c.1591G>A (p.Ala531Thr) n.2265G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047358G>C | CA402952471 | ABCA7 | c.2047G>C (p.Ala683Pro) n.2727G>C c.1633G>C (p.Ala545Pro) n.465G>C c.1591G>C (p.Ala531Pro) n.2265G>C | |
19 | g.1047358G= | CA2317482905 | ABCA7 | c.2047G= (p.Ala683=) n.2727G= c.1633G= (p.Ala545=) n.465G= c.1591G= (p.Ala531=) n.2265G= | |
19 | g.1047358G>T | CA402952472 | ABCA7 | c.2047G>T (p.Ala683Ser) n.2727G>T c.1633G>T (p.Ala545Ser) n.465G>T c.1591G>T (p.Ala531Ser) n.2265G>T | gnomAD v4 |
19 | g.1047359C>A | CA402952476 | ABCA7 | c.2048C>A (p.Ala683Glu) n.2728C>A c.1634C>A (p.Ala545Glu) n.466C>A c.1592C>A (p.Ala531Glu) n.2266C>A | |
19 | g.1047359C= | CA2317482906 | ABCA7 | c.2048C= (p.Ala683=) n.2728C= c.1634C= (p.Ala545=) n.466C= c.1592C= (p.Ala531=) n.2266C= | |
19 | g.1047359C>G | CA402952478 | ABCA7 | c.2048C>G (p.Ala683Gly) n.2728C>G c.1634C>G (p.Ala545Gly) n.466C>G c.1592C>G (p.Ala531Gly) n.2266C>G | |
19 | g.1047359C>T | CA402952474 | ABCA7 | c.2048C>T (p.Ala683Val) n.2728C>T c.1634C>T (p.Ala545Val) n.466C>T c.1592C>T (p.Ala531Val) n.2266C>T | dbSNP gnomAD v4 COSMIC |
19 | g.1047360G>A | CA504887700 | ABCA7 | c.2049G>A (p.Ala683=) n.2729G>A c.1635G>A (p.Ala545=) n.467G>A c.1593G>A (p.Ala531=) n.2267G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047360G>C | CA504887701 | ABCA7 | c.2049G>C (p.Ala683=) n.2729G>C c.1635G>C (p.Ala545=) n.467G>C c.1593G>C (p.Ala531=) n.2267G>C | |
19 | g.1047360G= | CA2317482907 | ABCA7 | c.2049G= (p.Ala683=) n.2729G= c.1635G= (p.Ala545=) n.467G= c.1593G= (p.Ala531=) n.2267G= | |
19 | g.1047360G>T | CA504887702 | ABCA7 | c.2049G>T (p.Ala683=) n.2729G>T c.1635G>T (p.Ala545=) n.467G>T c.1593G>T (p.Ala531=) n.2267G>T | gnomAD v4 |
19 | g.1047361G>A | CA402952481 | ABCA7 | c.2050G>A (p.Gly684Ser) n.2730G>A c.1636G>A (p.Gly546Ser) n.468G>A c.1594G>A (p.Gly532Ser) n.2268G>A | COSMIC |
19 | g.1047361G>C | CA402952485 | ABCA7 | c.2050G>C (p.Gly684Arg) n.2730G>C c.1636G>C (p.Gly546Arg) n.468G>C c.1594G>C (p.Gly532Arg) n.2268G>C | |
19 | g.1047361G>T | CA402952489 | ABCA7 | c.2050G>T (p.Gly684Cys) n.2730G>T c.1636G>T (p.Gly546Cys) n.468G>T c.1594G>T (p.Gly532Cys) n.2268G>T | gnomAD v4 |
19 | g.1047361_1047369delinsGGTGGCCGC | CA2317482908 | ABCA7 | c.2050_2058delinsGGTGGCCGC (p.Gly684=) n.2730_2738delinsGGTGGCCGC c.1636_1644delinsGGTGGCCGC (p.Gly546=) n.468_476delinsGGTGGCCGC c.1594_1602delinsGGTGGCCGC (p.Gly532=) n.2268_2276delinsGGTGGCCGC | |
19 | g.1047362G>A | CA402952495 | ABCA7 | c.2051G>A (p.Gly684Asp) n.2731G>A c.1637G>A (p.Gly546Asp) n.469G>A c.1595G>A (p.Gly532Asp) n.2269G>A | |
19 | g.1047362G>C | CA402952499 | ABCA7 | c.2051G>C (p.Gly684Ala) n.2731G>C c.1637G>C (p.Gly546Ala) n.469G>C c.1595G>C (p.Gly532Ala) n.2269G>C | |
19 | g.1047362G>T | CA402952501 | ABCA7 | c.2051G>T (p.Gly684Val) n.2731G>T c.1637G>T (p.Gly546Val) n.469G>T c.1595G>T (p.Gly532Val) n.2269G>T | gnomAD v4 |
19 | g.1047371_1047378dup | CA9033280 | ABCA7 | c.2060_2067dup (p.Ser690TrpfsTer?) n.2740_2747dup c.1646_1653dup (p.Ser552TrpfsTer?) n.478_485dup c.1604_1611dup (p.Ser538TrpfsTer?) n.2278_2285dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047371_1047378del | CA631297448 | ABCA7 | c.2060_2067del (p.Val687GlufsTer?) n.2740_2747del c.1646_1653del (p.Val549GlufsTer?) n.478_485del c.1604_1611del (p.Val535GlufsTer?) n.2278_2285del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047363T>A | CA504887703 | ABCA7 | c.2052T>A (p.Gly684=) n.2732T>A c.1638T>A (p.Gly546=) n.470T>A c.1596T>A (p.Gly532=) n.2270T>A | |
19 | g.1047363T>C | CA504887704 | ABCA7 | c.2052T>C (p.Gly684=) n.2732T>C c.1638T>C (p.Gly546=) n.470T>C c.1596T>C (p.Gly532=) n.2270T>C | |
19 | g.1047363T>G | CA504887705 | ABCA7 | c.2052T>G (p.Gly684=) n.2732T>G c.1638T>G (p.Gly546=) n.470T>G c.1596T>G (p.Gly532=) n.2270T>G | |
19 | g.1047364G>A | CA402952504 | ABCA7 | c.2053G>A (p.Gly685Ser) n.2733G>A c.1639G>A (p.Gly547Ser) n.471G>A c.1597G>A (p.Gly533Ser) n.2271G>A | gnomAD v4 |
19 | g.1047364G>C | CA402952506 | ABCA7 | c.2053G>C (p.Gly685Arg) n.2733G>C c.1639G>C (p.Gly547Arg) n.471G>C c.1597G>C (p.Gly533Arg) n.2271G>C | |
19 | g.1047364G>T | CA402952507 | ABCA7 | c.2053G>T (p.Gly685Cys) n.2733G>T c.1639G>T (p.Gly547Cys) n.471G>T c.1597G>T (p.Gly533Cys) n.2271G>T | gnomAD v4 |
19 | g.1047365G>A | CA402952510 | ABCA7 | c.2054G>A (p.Gly685Asp) n.2734G>A c.1640G>A (p.Gly547Asp) n.472G>A c.1598G>A (p.Gly533Asp) n.2272G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.1047365G>C | CA402952512 | ABCA7 | c.2054G>C (p.Gly685Ala) n.2734G>C c.1640G>C (p.Gly547Ala) n.472G>C c.1598G>C (p.Gly533Ala) n.2272G>C | gnomAD v4 |
19 | g.1047365G= | CA2317482909 | ABCA7 | c.2054G= (p.Gly685=) n.2734G= c.1640G= (p.Gly547=) n.472G= c.1598G= (p.Gly533=) n.2272G= | |
19 | g.1047365G>T | CA402952515 | ABCA7 | c.2054G>T (p.Gly685Val) n.2734G>T c.1640G>T (p.Gly547Val) n.472G>T c.1598G>T (p.Gly533Val) n.2272G>T | gnomAD v4 |
19 | g.1047366C>A | CA504887706 | ABCA7 | c.2055C>A (p.Gly685=) n.2735C>A c.1641C>A (p.Gly547=) n.473C>A c.1599C>A (p.Gly533=) n.2273C>A | |
19 | g.1047366C>G | CA504887707 | ABCA7 | c.2055C>G (p.Gly685=) n.2735C>G c.1641C>G (p.Gly547=) n.473C>G c.1599C>G (p.Gly533=) n.2273C>G | dbSNP |
19 | g.1047366C>T | CA504887708 | ABCA7 | c.2055C>T (p.Gly685=) n.2735C>T c.1641C>T (p.Gly547=) n.473C>T c.1599C>T (p.Gly533=) n.2273C>T | gnomAD v4 |
19 | g.1047367C>A | CA402952523 | ABCA7 | c.2056C>A (p.Arg686Ser) n.2736C>A c.1642C>A (p.Arg548Ser) n.474C>A c.1600C>A (p.Arg534Ser) n.2274C>A | |
19 | g.1047367C= | CA2317482910 | ABCA7 | c.2056C= (p.Arg686=) n.2736C= c.1642C= (p.Arg548=) n.474C= c.1600C= (p.Arg534=) n.2274C= | |
19 | g.1047367C>G | CA402952520 | ABCA7 | c.2056C>G (p.Arg686Gly) n.2736C>G c.1642C>G (p.Arg548Gly) n.474C>G c.1600C>G (p.Arg534Gly) n.2274C>G | |
19 | g.1047367C>T | CA303995701 | ABCA7 | c.2056C>T (p.Arg686Cys) n.2736C>T c.1642C>T (p.Arg548Cys) n.474C>T c.1600C>T (p.Arg534Cys) n.2274C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047368del | CA2838225567 | ABCA7 | c.2057del (p.Arg686ProfsTer?) n.2737del c.1643del (p.Arg548ProfsTer?) n.475del c.1601del (p.Arg534ProfsTer?) n.2275del | |
19 | g.1047368G>A | CA402952526 | ABCA7 | c.2057G>A (p.Arg686His) n.2737G>A c.1643G>A (p.Arg548His) n.475G>A c.1601G>A (p.Arg534His) n.2275G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047368G>C | CA402952529 | ABCA7 | c.2057G>C (p.Arg686Pro) n.2737G>C c.1643G>C (p.Arg548Pro) n.475G>C c.1601G>C (p.Arg534Pro) n.2275G>C | |
19 | g.1047368G= | CA2317482911 | ABCA7 | c.2057G= (p.Arg686=) n.2737G= c.1643G= (p.Arg548=) n.475G= c.1601G= (p.Arg534=) n.2275G= | |
19 | g.1047368G>T | CA303995708 | ABCA7 | c.2057G>T (p.Arg686Leu) n.2737G>T c.1643G>T (p.Arg548Leu) n.475G>T c.1601G>T (p.Arg534Leu) n.2275G>T | dbSNP gnomAD v4 |
19 | g.1047369C>A | CA504887709 | ABCA7 | c.2058C>A (p.Arg686=) n.2738C>A c.1644C>A (p.Arg548=) n.476C>A c.1602C>A (p.Arg534=) n.2276C>A | |
19 | g.1047369C= | CA2317482912 | ABCA7 | c.2058C= (p.Arg686=) n.2738C= c.1644C= (p.Arg548=) n.476C= c.1602C= (p.Arg534=) n.2276C= | |
19 | g.1047369C>G | CA504887710 | ABCA7 | c.2058C>G (p.Arg686=) n.2738C>G c.1644C>G (p.Arg548=) n.476C>G c.1602C>G (p.Arg534=) n.2276C>G | |
19 | g.1047369C>T | CA504887711 | ABCA7 | c.2058C>T (p.Arg686=) n.2738C>T c.1644C>T (p.Arg548=) n.476C>T c.1602C>T (p.Arg534=) n.2276C>T | dbSNP gnomAD v4 |
19 | g.1047370G>A | CA303995709 | ABCA7 | c.2059G>A (p.Val687Met) n.2739G>A c.1645G>A (p.Val549Met) n.477G>A c.1603G>A (p.Val535Met) n.2277G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047370G>C | CA402952535 | ABCA7 | c.2059G>C (p.Val687Leu) n.2739G>C c.1645G>C (p.Val549Leu) n.477G>C c.1603G>C (p.Val535Leu) n.2277G>C | |
19 | g.1047370G= | CA2317482913 | ABCA7 | c.2059G= (p.Val687=) n.2739G= c.1645G= (p.Val549=) n.477G= c.1603G= (p.Val535=) n.2277G= | |
19 | g.1047370G>T | CA402952538 | ABCA7 | c.2059G>T (p.Val687Leu) n.2739G>T c.1645G>T (p.Val549Leu) n.477G>T c.1603G>T (p.Val535Leu) n.2277G>T | gnomAD v4 |
19 | g.1047371T>A | CA402952542 | ABCA7 | c.2060T>A (p.Val687Glu) n.2740T>A c.1646T>A (p.Val549Glu) n.478T>A c.1604T>A (p.Val535Glu) n.2278T>A | |
19 | g.1047371T>C | CA402952544 | ABCA7 | c.2060T>C (p.Val687Ala) n.2740T>C c.1646T>C (p.Val549Ala) n.478T>C c.1604T>C (p.Val535Ala) n.2278T>C | gnomAD v4 |
19 | g.1047371T>G | CA402952547 | ABCA7 | c.2060T>G (p.Val687Gly) n.2740T>G c.1646T>G (p.Val549Gly) n.478T>G c.1604T>G (p.Val535Gly) n.2278T>G | dbSNP gnomAD v4 |
19 | g.1047371T= | CA2317482914 | ABCA7 | c.2060T= (p.Val687=) n.2740T= c.1646T= (p.Val549=) n.478T= c.1604T= (p.Val535=) n.2278T= | |
19 | g.1047372G>A | CA504887712 | ABCA7 | c.2061G>A (p.Val687=) n.2741G>A c.1647G>A (p.Val549=) n.479G>A c.1605G>A (p.Val535=) n.2279G>A | dbSNP gnomAD v4 |
19 | g.1047372G>C | CA504887713 | ABCA7 | c.2061G>C (p.Val687=) n.2741G>C c.1647G>C (p.Val549=) n.479G>C c.1605G>C (p.Val535=) n.2279G>C | |
19 | g.1047372G= | CA2317482915 | ABCA7 | c.2061G= (p.Val687=) n.2741G= c.1647G= (p.Val549=) n.479G= c.1605G= (p.Val535=) n.2279G= | |
19 | g.1047372G>T | CA504887714 | ABCA7 | c.2061G>T (p.Val687=) n.2741G>T c.1647G>T (p.Val549=) n.479G>T c.1605G>T (p.Val535=) n.2279G>T | gnomAD v4 |
19 | g.1047373del | CA2576543456 | ABCA7 | c.2062del (p.Ala688ProfsTer?) n.2742del c.1648del (p.Ala550ProfsTer?) n.480del c.1606del (p.Ala536ProfsTer?) n.2280del | |
19 | g.1047373G>A | CA303995710 | ABCA7 | c.2062G>A (p.Ala688Thr) n.2742G>A c.1648G>A (p.Ala550Thr) n.480G>A c.1606G>A (p.Ala536Thr) n.2280G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047373G>C | CA402952551 | ABCA7 | c.2062G>C (p.Ala688Pro) n.2742G>C c.1648G>C (p.Ala550Pro) n.480G>C c.1606G>C (p.Ala536Pro) n.2280G>C | |
19 | g.1047373G= | CA2317482916 | ABCA7 | c.2062G= (p.Ala688=) n.2742G= c.1648G= (p.Ala550=) n.480G= c.1606G= (p.Ala536=) n.2280G= | |
19 | g.1047373G>T | CA402952556 | ABCA7 | c.2062G>T (p.Ala688Ser) n.2742G>T c.1648G>T (p.Ala550Ser) n.480G>T c.1606G>T (p.Ala536Ser) n.2280G>T | gnomAD v4 |
19 | g.1047374C>A | CA402952565 | ABCA7 | c.2063C>A (p.Ala688Asp) n.2743C>A c.1649C>A (p.Ala550Asp) n.481C>A c.1607C>A (p.Ala536Asp) n.2281C>A | gnomAD v4 |
19 | g.1047374C= | CA2317482917 | ABCA7 | c.2063C= (p.Ala688=) n.2743C= c.1649C= (p.Ala550=) n.481C= c.1607C= (p.Ala536=) n.2281C= | |
19 | g.1047374C>G | CA402952563 | ABCA7 | c.2063C>G (p.Ala688Gly) n.2743C>G c.1649C>G (p.Ala550Gly) n.481C>G c.1607C>G (p.Ala536Gly) n.2281C>G | |
19 | g.1047374C>T | CA402952560 | ABCA7 | c.2063C>T (p.Ala688Val) n.2743C>T c.1649C>T (p.Ala550Val) n.481C>T c.1607C>T (p.Ala536Val) n.2281C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |