Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.1047164A>C | CA402951912 | ABCA7 | c.1853A>C (p.Asp618Ala) n.2533A>C c.1439A>C (p.Asp480Ala) n.271A>C c.1397A>C (p.Asp466Ala) n.2071A>C | dbSNP |
19 | g.1047164A>G | CA402951914 | ABCA7 | c.1853A>G (p.Asp618Gly) n.2533A>G c.1439A>G (p.Asp480Gly) n.271A>G c.1397A>G (p.Asp466Gly) n.2071A>G | gnomAD v4 |
19 | g.1047164A>T | CA402951916 | ABCA7 | c.1853A>T (p.Asp618Val) n.2533A>T c.1439A>T (p.Asp480Val) n.271A>T c.1397A>T (p.Asp466Val) n.2071A>T | |
19 | g.1047165C>A | CA402951922 | ABCA7 | c.1854C>A (p.Asp618Glu) n.2534C>A c.1440C>A (p.Asp480Glu) n.272C>A c.1398C>A (p.Asp466Glu) n.2072C>A | |
19 | g.1047165C>G | CA402951919 | ABCA7 | c.1854C>G (p.Asp618Glu) n.2534C>G c.1440C>G (p.Asp480Glu) n.272C>G c.1398C>G (p.Asp466Glu) n.2072C>G | |
19 | g.1047165C>T | CA504887380 | ABCA7 | c.1854C>T (p.Asp618=) n.2534C>T c.1440C>T (p.Asp480=) n.272C>T c.1398C>T (p.Asp466=) n.2072C>T | gnomAD v4 |
19 | g.1047166A>C | CA402951925 | ABCA7 | c.1855A>C (p.Ile619Leu) n.2535A>C c.1441A>C (p.Ile481Leu) n.273A>C c.1399A>C (p.Ile467Leu) n.2073A>C | |
19 | g.1047166A>G | CA402951928 | ABCA7 | c.1855A>G (p.Ile619Val) n.2535A>G c.1441A>G (p.Ile481Val) n.273A>G c.1399A>G (p.Ile467Val) n.2073A>G | |
19 | g.1047166A>T | CA402951930 | ABCA7 | c.1855A>T (p.Ile619Phe) n.2535A>T c.1441A>T (p.Ile481Phe) n.273A>T c.1399A>T (p.Ile467Phe) n.2073A>T | |
19 | g.1047167T>A | CA9033224 | ABCA7 | c.1856T>A (p.Ile619Asn) n.2536T>A c.1442T>A (p.Ile481Asn) n.274T>A c.1400T>A (p.Ile467Asn) n.2074T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047167T>C | CA402951933 | ABCA7 | c.1856T>C (p.Ile619Thr) n.2536T>C c.1442T>C (p.Ile481Thr) n.274T>C c.1400T>C (p.Ile467Thr) n.2074T>C | |
19 | g.1047167T>G | CA402951934 | ABCA7 | c.1856T>G (p.Ile619Ser) n.2536T>G c.1442T>G (p.Ile481Ser) n.274T>G c.1400T>G (p.Ile467Ser) n.2074T>G | gnomAD v4 |
19 | g.1047167T= | CA2317482792 | ABCA7 | c.1856T= (p.Ile619=) n.2536T= c.1442T= (p.Ile481=) n.274T= c.1400T= (p.Ile467=) n.2074T= | |
19 | g.1047168C>A | CA504887385 | ABCA7 | c.1857C>A (p.Ile619=) n.2537C>A c.1443C>A (p.Ile481=) n.275C>A c.1401C>A (p.Ile467=) n.2075C>A | gnomAD v4 |
19 | g.1047168C>G | CA402951936 | ABCA7 | c.1857C>G (p.Ile619Met) n.2537C>G c.1443C>G (p.Ile481Met) n.275C>G c.1401C>G (p.Ile467Met) n.2075C>G | |
19 | g.1047168C>T | CA504887383 | ABCA7 | c.1857C>T (p.Ile619=) n.2537C>T c.1443C>T (p.Ile481=) n.275C>T c.1401C>T (p.Ile467=) n.2075C>T | |
19 | g.1047170_1047173del | CA2588185553 | ABCA7 | c.1859_1862del (p.Leu620ProfsTer20) n.2539_2542del c.1445_1448del (p.Leu482ProfsTer20) n.277_280del c.1403_1406del (p.Leu468ProfsTer20) n.2077_2080del | gnomAD v4 |
19 | g.1047168_1047178del | CA2588185554 | ABCA7 | c.1857_1867del (p.Ile619MetfsTer?) n.2537_2547del c.1443_1453del (p.Ile481MetfsTer?) n.275_285del c.1401_1411del (p.Ile467MetfsTer?) n.2075_2085del | gnomAD v4 |
19 | g.1047169C>A | CA402951939 | ABCA7 | c.1858C>A (p.Leu620Ile) n.2538C>A c.1444C>A (p.Leu482Ile) n.276C>A c.1402C>A (p.Leu468Ile) n.2076C>A | gnomAD v4 |
19 | g.1047169C= | CA2317482793 | ABCA7 | c.1858C= (p.Leu620=) n.2538C= c.1444C= (p.Leu482=) n.276C= c.1402C= (p.Leu468=) n.2076C= | |
19 | g.1047169C>G | CA402951942 | ABCA7 | c.1858C>G (p.Leu620Val) n.2538C>G c.1444C>G (p.Leu482Val) n.276C>G c.1402C>G (p.Leu468Val) n.2076C>G | |
19 | g.1047169C>T | CA9033225 | ABCA7 | c.1858C>T (p.Leu620Phe) n.2538C>T c.1444C>T (p.Leu482Phe) n.276C>T c.1402C>T (p.Leu468Phe) n.2076C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1047170T>A | CA9033227 | ABCA7 | c.1859T>A (p.Leu620His) n.2539T>A c.1445T>A (p.Leu482His) n.277T>A c.1403T>A (p.Leu468His) n.2077T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047170T>C | CA9033226 | ABCA7 | c.1859T>C (p.Leu620Pro) n.2539T>C c.1445T>C (p.Leu482Pro) n.277T>C c.1403T>C (p.Leu468Pro) n.2077T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047170T>G | CA303995383 | ABCA7 | c.1859T>G (p.Leu620Arg) n.2539T>G c.1445T>G (p.Leu482Arg) n.277T>G c.1403T>G (p.Leu468Arg) n.2077T>G | dbSNP |
19 | g.1047170T= | CA2317482794 | ABCA7 | c.1859T= (p.Leu620=) n.2539T= c.1445T= (p.Leu482=) n.277T= c.1403T= (p.Leu468=) n.2077T= | |
19 | g.1047171C>A | CA504887391 | ABCA7 | c.1860C>A (p.Leu620=) n.2540C>A c.1446C>A (p.Leu482=) n.278C>A c.1404C>A (p.Leu468=) n.2078C>A | gnomAD v4 |
19 | g.1047171C= | CA2317482795 | ABCA7 | c.1860C= (p.Leu620=) n.2540C= c.1446C= (p.Leu482=) n.278C= c.1404C= (p.Leu468=) n.2078C= | |
19 | g.1047171C>G | CA504887388 | ABCA7 | c.1860C>G (p.Leu620=) n.2540C>G c.1446C>G (p.Leu482=) n.278C>G c.1404C>G (p.Leu468=) n.2078C>G | |
19 | g.1047171C>T | CA303995386 | ABCA7 | c.1860C>T (p.Leu620=) n.2540C>T c.1446C>T (p.Leu482=) n.278C>T c.1404C>T (p.Leu468=) n.2078C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047174del | CA2588185555 | ABCA7 | c.1863del (p.Tyr622ThrfsTer19) n.2543del c.1449del (p.Tyr484ThrfsTer19) n.281del c.1407del (p.Tyr470ThrfsTer19) n.2081del | gnomAD v4 |
19 | g.1047172C>A | CA402951955 | ABCA7 | c.1861C>A (p.Pro621Thr) n.2541C>A c.1447C>A (p.Pro483Thr) n.279C>A c.1405C>A (p.Pro469Thr) n.2079C>A | gnomAD v4 |
19 | g.1047172C= | CA2317482796 | ABCA7 | c.1861C= (p.Pro621=) n.2541C= c.1447C= (p.Pro483=) n.279C= c.1405C= (p.Pro469=) n.2079C= | |
19 | g.1047172C>G | CA402951954 | ABCA7 | c.1861C>G (p.Pro621Ala) n.2541C>G c.1447C>G (p.Pro483Ala) n.279C>G c.1405C>G (p.Pro469Ala) n.2079C>G | gnomAD v4 |
19 | g.1047172C>T | CA9033228 | ABCA7 | c.1861C>T (p.Pro621Ser) n.2541C>T c.1447C>T (p.Pro483Ser) n.279C>T c.1405C>T (p.Pro469Ser) n.2079C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047173C>A | CA402951956 | ABCA7 | c.1862C>A (p.Pro621His) n.2542C>A c.1448C>A (p.Pro483His) n.280C>A c.1406C>A (p.Pro469His) n.2080C>A | gnomAD v4 |
19 | g.1047173C= | CA2317482797 | ABCA7 | c.1862C= (p.Pro621=) n.2542C= c.1448C= (p.Pro483=) n.280C= c.1406C= (p.Pro469=) n.2080C= | |
19 | g.1047173C>G | CA402951957 | ABCA7 | c.1862C>G (p.Pro621Arg) n.2542C>G c.1448C>G (p.Pro483Arg) n.280C>G c.1406C>G (p.Pro469Arg) n.2080C>G | |
19 | g.1047173C>T | CA9033229 | ABCA7 | c.1862C>T (p.Pro621Leu) n.2542C>T c.1448C>T (p.Pro483Leu) n.280C>T c.1406C>T (p.Pro469Leu) n.2080C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047174C>A | CA504887397 | ABCA7 | c.1863C>A (p.Pro621=) n.2543C>A c.1449C>A (p.Pro483=) n.281C>A c.1407C>A (p.Pro469=) n.2081C>A | gnomAD v4 |
19 | g.1047174C>G | CA504887398 | ABCA7 | c.1863C>G (p.Pro621=) n.2543C>G c.1449C>G (p.Pro483=) n.281C>G c.1407C>G (p.Pro469=) n.2081C>G | |
19 | g.1047174C>T | CA504887399 | ABCA7 | c.1863C>T (p.Pro621=) n.2543C>T c.1449C>T (p.Pro483=) n.281C>T c.1407C>T (p.Pro469=) n.2081C>T | gnomAD v4 COSMIC |
19 | g.1047175T>A | CA402951960 | ABCA7 | c.1864T>A (p.Tyr622Asn) n.2544T>A c.1450T>A (p.Tyr484Asn) n.282T>A c.1408T>A (p.Tyr470Asn) n.2082T>A | |
19 | g.1047175T>C | CA402951962 | ABCA7 | c.1864T>C (p.Tyr622His) n.2544T>C c.1450T>C (p.Tyr484His) n.282T>C c.1408T>C (p.Tyr470His) n.2082T>C | |
19 | g.1047175T>G | CA402951964 | ABCA7 | c.1864T>G (p.Tyr622Asp) n.2544T>G c.1450T>G (p.Tyr484Asp) n.282T>G c.1408T>G (p.Tyr470Asp) n.2082T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047175T= | CA2317482798 | ABCA7 | c.1864T= (p.Tyr622=) n.2544T= c.1450T= (p.Tyr484=) n.282T= c.1408T= (p.Tyr470=) n.2082T= | |
19 | g.1047176A= | CA2317482799 | ABCA7 | c.1865A= (p.Tyr622=) n.2545A= c.1451A= (p.Tyr484=) n.283A= c.1409A= (p.Tyr470=) n.2083A= | |
19 | g.1047176A>C | CA402951968 | ABCA7 | c.1865A>C (p.Tyr622Ser) n.2545A>C c.1451A>C (p.Tyr484Ser) n.283A>C c.1409A>C (p.Tyr470Ser) n.2083A>C | |
19 | g.1047176A>G | CA402951970 | ABCA7 | c.1865A>G (p.Tyr622Cys) n.2545A>G c.1451A>G (p.Tyr484Cys) n.283A>G c.1409A>G (p.Tyr470Cys) n.2083A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047176A>T | CA402951972 | ABCA7 | c.1865A>T (p.Tyr622Phe) n.2545A>T c.1451A>T (p.Tyr484Phe) n.283A>T c.1409A>T (p.Tyr470Phe) n.2083A>T | |
19 | g.1047177C>A | CA303995392 | ABCA7 | c.1866C>A (p.Tyr622Ter) n.2546C>A c.1452C>A (p.Tyr484Ter) n.284C>A c.1410C>A (p.Tyr470Ter) n.2084C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047177C= | CA2317482800 | ABCA7 | c.1866C= (p.Tyr622=) n.2546C= c.1452C= (p.Tyr484=) n.284C= c.1410C= (p.Tyr470=) n.2084C= | |
19 | g.1047177C>G | CA402951976 | ABCA7 | c.1866C>G (p.Tyr622Ter) n.2546C>G c.1452C>G (p.Tyr484Ter) n.284C>G c.1410C>G (p.Tyr470Ter) n.2084C>G | |
19 | g.1047177C>T | CA504887407 | ABCA7 | c.1866C>T (p.Tyr622=) n.2546C>T c.1452C>T (p.Tyr484=) n.284C>T c.1410C>T (p.Tyr470=) n.2084C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047178A= | CA2317482801 | ABCA7 | c.1867A= (p.Ser623=) n.2547A= c.1453A= (p.Ser485=) n.285A= c.1411A= (p.Ser471=) n.2085A= | |
19 | g.1047178A>C | CA402951978 | ABCA7 | c.1867A>C (p.Ser623Arg) n.2547A>C c.1453A>C (p.Ser485Arg) n.285A>C c.1411A>C (p.Ser471Arg) n.2085A>C | dbSNP |
19 | g.1047178A>G | CA402951980 | ABCA7 | c.1867A>G (p.Ser623Gly) n.2547A>G c.1453A>G (p.Ser485Gly) n.285A>G c.1411A>G (p.Ser471Gly) n.2085A>G | |
19 | g.1047178A>T | CA402951982 | ABCA7 | c.1867A>T (p.Ser623Cys) n.2547A>T c.1453A>T (p.Ser485Cys) n.285A>T c.1411A>T (p.Ser471Cys) n.2085A>T | |
19 | g.1047179G>A | CA402951987 | ABCA7 | c.1868G>A (p.Ser623Asn) n.2548G>A c.1454G>A (p.Ser485Asn) n.286G>A c.1412G>A (p.Ser471Asn) n.2086G>A | dbSNP gnomAD v4 |
19 | g.1047179G>C | CA402951989 | ABCA7 | c.1868G>C (p.Ser623Thr) n.2548G>C c.1454G>C (p.Ser485Thr) n.286G>C c.1412G>C (p.Ser471Thr) n.2086G>C | |
19 | g.1047179G= | CA2317482802 | ABCA7 | c.1868G= (p.Ser623=) n.2548G= c.1454G= (p.Ser485=) n.286G= c.1412G= (p.Ser471=) n.2086G= | |
19 | g.1047179G>T | CA402951985 | ABCA7 | c.1868G>T (p.Ser623Ile) n.2548G>T c.1454G>T (p.Ser485Ile) n.286G>T c.1412G>T (p.Ser471Ile) n.2086G>T | gnomAD v4 |
19 | g.1047180C>A | CA402951991 | ABCA7 | c.1869C>A (p.Ser623Arg) n.2549C>A c.1455C>A (p.Ser485Arg) n.287C>A c.1413C>A (p.Ser471Arg) n.2087C>A | gnomAD v4 |
19 | g.1047180C= | CA2317482803 | ABCA7 | c.1869C= (p.Ser623=) n.2549C= c.1455C= (p.Ser485=) n.287C= c.1413C= (p.Ser471=) n.2087C= | |
19 | g.1047180C>G | CA402951994 | ABCA7 | c.1869C>G (p.Ser623Arg) n.2549C>G c.1455C>G (p.Ser485Arg) n.287C>G c.1413C>G (p.Ser471Arg) n.2087C>G | |
19 | g.1047180C>T | CA9033230 | ABCA7 | c.1869C>T (p.Ser623=) n.2549C>T c.1455C>T (p.Ser485=) n.287C>T c.1413C>T (p.Ser471=) n.2087C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047180_1047189del | CA2588185556 | ABCA7 | c.1869_1878del (p.Ser623ArgfsTer15) n.2549_2558del c.1455_1464del (p.Ser485ArgfsTer15) n.287_296del c.1413_1422del (p.Ser471ArgfsTer15) n.2087_2096del | gnomAD v4 |
19 | g.1047181C>A | CA402951997 | ABCA7 | c.1870C>A (p.His624Asn) n.2550C>A c.1456C>A (p.His486Asn) n.288C>A c.1414C>A (p.His472Asn) n.2088C>A | |
19 | g.1047181C>G | CA402951999 | ABCA7 | c.1870C>G (p.His624Asp) n.2550C>G c.1456C>G (p.His486Asp) n.288C>G c.1414C>G (p.His472Asp) n.2088C>G | |
19 | g.1047181C>T | CA402952002 | ABCA7 | c.1870C>T (p.His624Tyr) n.2550C>T c.1456C>T (p.His486Tyr) n.288C>T c.1414C>T (p.His472Tyr) n.2088C>T | gnomAD v4 |
19 | g.1047182A= | CA2317482804 | ABCA7 | c.1871A= (p.His624=) n.2551A= c.1457A= (p.His486=) n.289A= c.1415A= (p.His472=) n.2089A= | |
19 | g.1047182A>C | CA402952009 | ABCA7 | c.1871A>C (p.His624Pro) n.2551A>C c.1457A>C (p.His486Pro) n.289A>C c.1415A>C (p.His472Pro) n.2089A>C | |
19 | g.1047182A>G | CA402952008 | ABCA7 | c.1871A>G (p.His624Arg) n.2551A>G c.1457A>G (p.His486Arg) n.289A>G c.1415A>G (p.His472Arg) n.2089A>G | |
19 | g.1047182A>T | CA402952005 | ABCA7 | c.1871A>T (p.His624Leu) n.2551A>T c.1457A>T (p.His486Leu) n.289A>T c.1415A>T (p.His472Leu) n.2089A>T | dbSNP gnomAD v4 |
19 | g.1047183C>A | CA402952010 | ABCA7 | c.1872C>A (p.His624Gln) n.2552C>A c.1458C>A (p.His486Gln) n.290C>A c.1416C>A (p.His472Gln) n.2090C>A | |
19 | g.1047183C= | CA2317482805 | ABCA7 | c.1872C= (p.His624=) n.2552C= c.1458C= (p.His486=) n.290C= c.1416C= (p.His472=) n.2090C= | |
19 | g.1047183C>G | CA402952011 | ABCA7 | c.1872C>G (p.His624Gln) n.2552C>G c.1458C>G (p.His486Gln) n.290C>G c.1416C>G (p.His472Gln) n.2090C>G | gnomAD v4 |
19 | g.1047183C>T | CA9033231 | ABCA7 | c.1872C>T (p.His624=) n.2552C>T c.1458C>T (p.His486=) n.290C>T c.1416C>T (p.His472=) n.2090C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047184C>A | CA402952012 | ABCA7 | c.1873C>A (p.Pro625Thr) n.2553C>A c.1459C>A (p.Pro487Thr) n.291C>A c.1417C>A (p.Pro473Thr) n.2091C>A | |
19 | g.1047184C>G | CA402952013 | ABCA7 | c.1873C>G (p.Pro625Ala) n.2553C>G c.1459C>G (p.Pro487Ala) n.291C>G c.1417C>G (p.Pro473Ala) n.2091C>G | |
19 | g.1047184C>T | CA402952014 | ABCA7 | c.1873C>T (p.Pro625Ser) n.2553C>T c.1459C>T (p.Pro487Ser) n.291C>T c.1417C>T (p.Pro473Ser) n.2091C>T | |
19 | g.1047185C>A | CA402952015 | ABCA7 | c.1874C>A (p.Pro625Gln) n.2554C>A c.1460C>A (p.Pro487Gln) n.292C>A c.1418C>A (p.Pro473Gln) n.2092C>A | gnomAD v4 |
19 | g.1047185C= | CA2317482806 | ABCA7 | c.1874C= (p.Pro625=) n.2554C= c.1460C= (p.Pro487=) n.292C= c.1418C= (p.Pro473=) n.2092C= | |
19 | g.1047185C>G | CA402952017 | ABCA7 | c.1874C>G (p.Pro625Arg) n.2554C>G c.1460C>G (p.Pro487Arg) n.292C>G c.1418C>G (p.Pro473Arg) n.2092C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047185C>T | CA402952016 | ABCA7 | c.1874C>T (p.Pro625Leu) n.2554C>T c.1460C>T (p.Pro487Leu) n.292C>T c.1418C>T (p.Pro473Leu) n.2092C>T | |
19 | g.1047186G>A | CA303995403 | ABCA7 | c.1875G>A (p.Pro625=) n.2555G>A c.1461G>A (p.Pro487=) n.293G>A c.1419G>A (p.Pro473=) n.2093G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047186G>C | CA9033232 | ABCA7 | c.1875G>C (p.Pro625=) n.2555G>C c.1461G>C (p.Pro487=) n.293G>C c.1419G>C (p.Pro473=) n.2093G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047186G= | CA2317482807 | ABCA7 | c.1875G= (p.Pro625=) n.2555G= c.1461G= (p.Pro487=) n.293G= c.1419G= (p.Pro473=) n.2093G= | |
19 | g.1047186G>T | CA504887417 | ABCA7 | c.1875G>T (p.Pro625=) n.2555G>T c.1461G>T (p.Pro487=) n.293G>T c.1419G>T (p.Pro473=) n.2093G>T | gnomAD v4 |
19 | g.1047187G>A | CA402952018 | ABCA7 | c.1876G>A (p.Gly626Ser) n.2556G>A c.1462G>A (p.Gly488Ser) n.294G>A c.1420G>A (p.Gly474Ser) n.2094G>A | |
19 | g.1047187G>C | CA402952019 | ABCA7 | c.1876G>C (p.Gly626Arg) n.2556G>C c.1462G>C (p.Gly488Arg) n.294G>C c.1420G>C (p.Gly474Arg) n.2094G>C | |
19 | g.1047187G>T | CA402952020 | ABCA7 | c.1876G>T (p.Gly626Cys) n.2556G>T c.1462G>T (p.Gly488Cys) n.294G>T c.1420G>T (p.Gly474Cys) n.2094G>T | gnomAD v4 |
19 | g.1047188G>A | CA9033233 | ABCA7 | c.1877G>A (p.Gly626Asp) n.2557G>A c.1463G>A (p.Gly488Asp) n.295G>A c.1421G>A (p.Gly474Asp) n.2095G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047188G>C | CA402952021 | ABCA7 | c.1877G>C (p.Gly626Ala) n.2557G>C c.1463G>C (p.Gly488Ala) n.295G>C c.1421G>C (p.Gly474Ala) n.2095G>C | |
19 | g.1047188G= | CA2317482808 | ABCA7 | c.1877G= (p.Gly626=) n.2557G= c.1463G= (p.Gly488=) n.295G= c.1421G= (p.Gly474=) n.2095G= | |
19 | g.1047188G>T | CA402952022 | ABCA7 | c.1877G>T (p.Gly626Val) n.2557G>T c.1463G>T (p.Gly488Val) n.295G>T c.1421G>T (p.Gly474Val) n.2095G>T | gnomAD v3 gnomAD v4 |
19 | g.1047189C>A | CA504887421 | ABCA7 | c.1878C>A (p.Gly626=) n.2558C>A c.1464C>A (p.Gly488=) n.296C>A c.1422C>A (p.Gly474=) n.2096C>A | gnomAD v4 |
19 | g.1047189C= | CA2317482810 | ABCA7 | c.1878C= (p.Gly626=) n.2558C= c.1464C= (p.Gly488=) n.296C= c.1422C= (p.Gly474=) n.2096C= | |
19 | g.1047189C>G | CA504887422 | ABCA7 | c.1878C>G (p.Gly626=) n.2558C>G c.1464C>G (p.Gly488=) n.296C>G c.1422C>G (p.Gly474=) n.2096C>G | gnomAD v4 |
19 | g.1047189C>T | CA504887423 | ABCA7 | c.1878C>T (p.Gly626=) n.2558C>T c.1464C>T (p.Gly488=) n.296C>T c.1422C>T (p.Gly474=) n.2096C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047189_1047190delinsCG | CA2317482809 | ABCA7 | c.1878_1879delinsCG (p.Gly626=) n.2558_2559delinsCG c.1464_1465delinsCG (p.Gly488=) n.296_297delinsCG c.1422_1423delinsCG (p.Gly474=) n.2096_2097delinsCG | |
19 | g.1047190del | CA9033234 | ABCA7 | c.1879del (p.Val627TrpfsTer14) n.2559del c.1465del (p.Val489TrpfsTer14) n.297del c.1423del (p.Val475TrpfsTer14) n.2097del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047190G>A | CA402952023 | ABCA7 | c.1879G>A (p.Val627Met) n.2559G>A c.1465G>A (p.Val489Met) n.297G>A c.1423G>A (p.Val475Met) n.2097G>A | gnomAD v4 |
19 | g.1047190G>C | CA402952024 | ABCA7 | c.1879G>C (p.Val627Leu) n.2559G>C c.1465G>C (p.Val489Leu) n.297G>C c.1423G>C (p.Val475Leu) n.2097G>C | |
19 | g.1047190G>T | CA402952025 | ABCA7 | c.1879G>T (p.Val627Leu) n.2559G>T c.1465G>T (p.Val489Leu) n.297G>T c.1423G>T (p.Val475Leu) n.2097G>T | gnomAD v4 |
19 | g.1047191T>A | CA402952026 | ABCA7 | c.1880T>A (p.Val627Glu) n.2560T>A c.1466T>A (p.Val489Glu) n.298T>A c.1424T>A (p.Val475Glu) n.2098T>A | |
19 | g.1047191T>C | CA402952028 | ABCA7 | c.1880T>C (p.Val627Ala) n.2560T>C c.1466T>C (p.Val489Ala) n.298T>C c.1424T>C (p.Val475Ala) n.2098T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047191T>G | CA402952027 | ABCA7 | c.1880T>G (p.Val627Gly) n.2560T>G c.1466T>G (p.Val489Gly) n.298T>G c.1424T>G (p.Val475Gly) n.2098T>G | |
19 | g.1047191T= | CA2317482811 | ABCA7 | c.1880T= (p.Val627=) n.2560T= c.1466T= (p.Val489=) n.298T= c.1424T= (p.Val475=) n.2098T= | |
19 | g.1047192G>A | CA504887427 | ABCA7 | c.1881G>A (p.Val627=) n.2561G>A c.1467G>A (p.Val489=) n.299G>A c.1425G>A (p.Val475=) n.2099G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047192G>C | CA504887428 | ABCA7 | c.1881G>C (p.Val627=) n.2561G>C c.1467G>C (p.Val489=) n.299G>C c.1425G>C (p.Val475=) n.2099G>C | |
19 | g.1047192G= | CA2317482812 | ABCA7 | c.1881G= (p.Val627=) n.2561G= c.1467G= (p.Val489=) n.299G= c.1425G= (p.Val475=) n.2099G= | |
19 | g.1047192G>T | CA504887429 | ABCA7 | c.1881G>T (p.Val627=) n.2561G>T c.1467G>T (p.Val489=) n.299G>T c.1425G>T (p.Val475=) n.2099G>T | gnomAD v4 |
19 | g.1047193G>A | CA402952029 | ABCA7 | c.1882G>A (p.Val628Ile) n.2562G>A c.1468G>A (p.Val490Ile) n.300G>A c.1426G>A (p.Val476Ile) n.2100G>A | gnomAD v4 |
19 | g.1047193G>C | CA402952030 | ABCA7 | c.1882G>C (p.Val628Leu) n.2562G>C c.1468G>C (p.Val490Leu) n.300G>C c.1426G>C (p.Val476Leu) n.2100G>C | gnomAD v3 gnomAD v4 |
19 | g.1047193G= | CA2317482813 | ABCA7 | c.1882G= (p.Val628=) n.2562G= c.1468G= (p.Val490=) n.300G= c.1426G= (p.Val476=) n.2100G= | |
19 | g.1047193G>T | CA9033235 | ABCA7 | c.1882G>T (p.Val628Phe) n.2562G>T c.1468G>T (p.Val490Phe) n.300G>T c.1426G>T (p.Val476Phe) n.2100G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047194T>A | CA402952031 | ABCA7 | c.1883T>A (p.Val628Asp) n.2563T>A c.1469T>A (p.Val490Asp) n.301T>A c.1427T>A (p.Val476Asp) n.2101T>A | |
19 | g.1047194T>C | CA402952032 | ABCA7 | c.1883T>C (p.Val628Ala) n.2563T>C c.1469T>C (p.Val490Ala) n.301T>C c.1427T>C (p.Val476Ala) n.2101T>C | gnomAD v4 |
19 | g.1047194T>G | CA402952033 | ABCA7 | c.1883T>G (p.Val628Gly) n.2563T>G c.1469T>G (p.Val490Gly) n.301T>G c.1427T>G (p.Val476Gly) n.2101T>G | |
19 | g.1047195C>A | CA504887432 | ABCA7 | c.1884C>A (p.Val628=) n.2564C>A c.1470C>A (p.Val490=) n.302C>A c.1428C>A (p.Val476=) n.2102C>A | |
19 | g.1047195C>G | CA504887433 | ABCA7 | c.1884C>G (p.Val628=) n.2564C>G c.1470C>G (p.Val490=) n.302C>G c.1428C>G (p.Val476=) n.2102C>G | |
19 | g.1047195C>T | CA504887434 | ABCA7 | c.1884C>T (p.Val628=) n.2564C>T c.1470C>T (p.Val490=) n.302C>T c.1428C>T (p.Val476=) n.2102C>T | |
19 | g.1047196T>A | CA402952034 | ABCA7 | c.1885T>A (p.Phe629Ile) n.2565T>A c.1471T>A (p.Phe491Ile) n.303T>A c.1429T>A (p.Phe477Ile) n.2103T>A | |
19 | g.1047196T>C | CA402952035 | ABCA7 | c.1885T>C (p.Phe629Leu) n.2565T>C c.1471T>C (p.Phe491Leu) n.303T>C c.1429T>C (p.Phe477Leu) n.2103T>C | |
19 | g.1047196T>G | CA402952036 | ABCA7 | c.1885T>G (p.Phe629Val) n.2565T>G c.1471T>G (p.Phe491Val) n.303T>G c.1429T>G (p.Phe477Val) n.2103T>G | |
19 | g.1047197T>A | CA402952037 | ABCA7 | c.1886T>A (p.Phe629Tyr) n.2566T>A c.1472T>A (p.Phe491Tyr) n.304T>A c.1430T>A (p.Phe477Tyr) n.2104T>A | |
19 | g.1047197T>C | CA402952038 | ABCA7 | c.1886T>C (p.Phe629Ser) n.2566T>C c.1472T>C (p.Phe491Ser) n.304T>C c.1430T>C (p.Phe477Ser) n.2104T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047197T>G | CA402952039 | ABCA7 | c.1886T>G (p.Phe629Cys) n.2566T>G c.1472T>G (p.Phe491Cys) n.304T>G c.1430T>G (p.Phe477Cys) n.2104T>G | |
19 | g.1047197T= | CA2317482814 | ABCA7 | c.1886T= (p.Phe629=) n.2566T= c.1472T= (p.Phe491=) n.304T= c.1430T= (p.Phe477=) n.2104T= | |
19 | g.1047198C>A | CA402952041 | ABCA7 | c.1887C>A (p.Phe629Leu) n.2567C>A c.1473C>A (p.Phe491Leu) n.305C>A c.1431C>A (p.Phe477Leu) n.2105C>A | |
19 | g.1047198C>G | CA402952040 | ABCA7 | c.1887C>G (p.Phe629Leu) n.2567C>G c.1473C>G (p.Phe491Leu) n.305C>G c.1431C>G (p.Phe477Leu) n.2105C>G | |
19 | g.1047198C>T | CA504887438 | ABCA7 | c.1887C>T (p.Phe629=) n.2567C>T c.1473C>T (p.Phe491=) n.305C>T c.1431C>T (p.Phe477=) n.2105C>T | gnomAD v4 COSMIC |
19 | g.1047199C>A | CA402952042 | ABCA7 | c.1888C>A (p.Leu630Met) n.2568C>A c.1474C>A (p.Leu492Met) n.306C>A c.1432C>A (p.Leu478Met) n.2106C>A | gnomAD v4 |
19 | g.1047199C>G | CA402952043 | ABCA7 | c.1888C>G (p.Leu630Val) n.2568C>G c.1474C>G (p.Leu492Val) n.306C>G c.1432C>G (p.Leu478Val) n.2106C>G | |
19 | g.1047199C>T | CA504887439 | ABCA7 | c.1888C>T (p.Leu630=) n.2568C>T c.1474C>T (p.Leu492=) n.306C>T c.1432C>T (p.Leu478=) n.2106C>T | gnomAD v4 |
19 | g.1047200T>A | CA402952044 | ABCA7 | c.1889T>A (p.Leu630Gln) n.2569T>A c.1475T>A (p.Leu492Gln) n.307T>A c.1433T>A (p.Leu478Gln) n.2107T>A | |
19 | g.1047200T>C | CA402952045 | ABCA7 | c.1889T>C (p.Leu630Pro) n.2569T>C c.1475T>C (p.Leu492Pro) n.307T>C c.1433T>C (p.Leu478Pro) n.2107T>C | |
19 | g.1047200T>G | CA402952046 | ABCA7 | c.1889T>G (p.Leu630Arg) n.2569T>G c.1475T>G (p.Leu492Arg) n.307T>G c.1433T>G (p.Leu478Arg) n.2107T>G | |
19 | g.1047201G>A | CA504887443 | ABCA7 | c.1890G>A (p.Leu630=) n.2570G>A c.1476G>A (p.Leu492=) n.308G>A c.1434G>A (p.Leu478=) n.2108G>A | gnomAD v4 |
19 | g.1047201G>C | CA504887445 | ABCA7 | c.1890G>C (p.Leu630=) n.2570G>C c.1476G>C (p.Leu492=) n.308G>C c.1434G>C (p.Leu478=) n.2108G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047201G= | CA2317482815 | ABCA7 | c.1890G= (p.Leu630=) n.2570G= c.1476G= (p.Leu492=) n.308G= c.1434G= (p.Leu478=) n.2108G= | |
19 | g.1047201G>T | CA504887446 | ABCA7 | c.1890G>T (p.Leu630=) n.2570G>T c.1476G>T (p.Leu492=) n.308G>T c.1434G>T (p.Leu478=) n.2108G>T | gnomAD v4 |
19 | g.1047202T>A | CA402952047 | ABCA7 | c.1891T>A (p.Phe631Ile) n.2571T>A c.1477T>A (p.Phe493Ile) n.309T>A c.1435T>A (p.Phe479Ile) n.2109T>A | |
19 | g.1047202T>C | CA402952048 | ABCA7 | c.1891T>C (p.Phe631Leu) n.2571T>C c.1477T>C (p.Phe493Leu) n.309T>C c.1435T>C (p.Phe479Leu) n.2109T>C | |
19 | g.1047202T>G | CA402952049 | ABCA7 | c.1891T>G (p.Phe631Val) n.2571T>G c.1477T>G (p.Phe493Val) n.309T>G c.1435T>G (p.Phe479Val) n.2109T>G | |
19 | g.1047203T>A | CA402952050 | ABCA7 | c.1892T>A (p.Phe631Tyr) n.2572T>A c.1478T>A (p.Phe493Tyr) n.310T>A c.1436T>A (p.Phe479Tyr) n.2110T>A | |
19 | g.1047203T>C | CA402952051 | ABCA7 | c.1892T>C (p.Phe631Ser) n.2572T>C c.1478T>C (p.Phe493Ser) n.310T>C c.1436T>C (p.Phe479Ser) n.2110T>C | |
19 | g.1047203T>G | CA402952052 | ABCA7 | c.1892T>G (p.Phe631Cys) n.2572T>G c.1478T>G (p.Phe493Cys) n.310T>G c.1436T>G (p.Phe479Cys) n.2110T>G | |
19 | g.1047204C>A | CA402952053 | ABCA7 | c.1893C>A (p.Phe631Leu) n.2573C>A c.1479C>A (p.Phe493Leu) n.311C>A c.1437C>A (p.Phe479Leu) n.2111C>A | |
19 | g.1047204C>G | CA402952054 | ABCA7 | c.1893C>G (p.Phe631Leu) n.2573C>G c.1479C>G (p.Phe493Leu) n.311C>G c.1437C>G (p.Phe479Leu) n.2111C>G | |
19 | g.1047204C>T | CA504887447 | ABCA7 | c.1893C>T (p.Phe631=) n.2573C>T c.1479C>T (p.Phe493=) n.311C>T c.1437C>T (p.Phe479=) n.2111C>T | |
19 | g.1047205T>A | CA402952056 | ABCA7 | c.1894T>A (p.Leu632Met) n.2574T>A c.1480T>A (p.Leu494Met) n.312T>A c.1438T>A (p.Leu480Met) n.2112T>A | |
19 | g.1047205T>C | CA504887448 | ABCA7 | c.1894T>C (p.Leu632=) n.2574T>C c.1480T>C (p.Leu494=) n.312T>C c.1438T>C (p.Leu480=) n.2112T>C | |
19 | g.1047205T>G | CA402952055 | ABCA7 | c.1894T>G (p.Leu632Val) n.2574T>G c.1480T>G (p.Leu494Val) n.312T>G c.1438T>G (p.Leu480Val) n.2112T>G | |
19 | g.1047206T>A | CA402952057 | ABCA7 | c.1895T>A (p.Leu632Ter) n.2575T>A c.1481T>A (p.Leu494Ter) n.313T>A c.1439T>A (p.Leu480Ter) n.2113T>A | gnomAD v4 |
19 | g.1047206T>C | CA402952058 | ABCA7 | c.1895T>C (p.Leu632Ser) n.2575T>C c.1481T>C (p.Leu494Ser) n.313T>C c.1439T>C (p.Leu480Ser) n.2113T>C | gnomAD v4 |
19 | g.1047206T>G | CA303995433 | ABCA7 | c.1895T>G (p.Leu632Trp) n.2575T>G c.1481T>G (p.Leu494Trp) n.313T>G c.1439T>G (p.Leu480Trp) n.2113T>G | dbSNP |
19 | g.1047206T= | CA2317482816 | ABCA7 | c.1895T= (p.Leu632=) n.2575T= c.1481T= (p.Leu494=) n.313T= c.1439T= (p.Leu480=) n.2113T= | |
19 | g.1047207G>A | CA504887453 | ABCA7 | c.1896G>A (p.Leu632=) n.2576G>A c.1482G>A (p.Leu494=) n.314G>A c.1440G>A (p.Leu480=) n.2114G>A | dbSNP gnomAD v2 COSMIC |
19 | g.1047207G>C | CA402952059 | ABCA7 | c.1896G>C (p.Leu632Phe) n.2576G>C c.1482G>C (p.Leu494Phe) n.314G>C c.1440G>C (p.Leu480Phe) n.2114G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047207G= | CA2317482817 | ABCA7 | c.1896G= (p.Leu632=) n.2576G= c.1482G= (p.Leu494=) n.314G= c.1440G= (p.Leu480=) n.2114G= | |
19 | g.1047207G>T | CA402952060 | ABCA7 | c.1896G>T (p.Leu632Phe) n.2576G>T c.1482G>T (p.Leu494Phe) n.314G>T c.1440G>T (p.Leu480Phe) n.2114G>T | gnomAD v4 |
19 | g.1047208G>A | CA402952061 | ABCA7 | c.1897G>A (p.Ala633Thr) n.2577G>A c.1483G>A (p.Ala495Thr) n.315G>A c.1441G>A (p.Ala481Thr) n.2115G>A | gnomAD v4 |
19 | g.1047208G>C | CA402952063 | ABCA7 | c.1897G>C (p.Ala633Pro) n.2577G>C c.1483G>C (p.Ala495Pro) n.315G>C c.1441G>C (p.Ala481Pro) n.2115G>C | |
19 | g.1047208G>T | CA402952062 | ABCA7 | c.1897G>T (p.Ala633Ser) n.2577G>T c.1483G>T (p.Ala495Ser) n.315G>T c.1441G>T (p.Ala481Ser) n.2115G>T | gnomAD v4 |
19 | g.1047209C>A | CA402952064 | ABCA7 | c.1898C>A (p.Ala633Glu) n.2578C>A c.1484C>A (p.Ala495Glu) n.316C>A c.1442C>A (p.Ala481Glu) n.2116C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047209C= | CA2317482818 | ABCA7 | c.1898C= (p.Ala633=) n.2578C= c.1484C= (p.Ala495=) n.316C= c.1442C= (p.Ala481=) n.2116C= | |
19 | g.1047209C>G | CA402952065 | ABCA7 | c.1898C>G (p.Ala633Gly) n.2578C>G c.1484C>G (p.Ala495Gly) n.316C>G c.1442C>G (p.Ala481Gly) n.2116C>G | |
19 | g.1047209C>T | CA402952066 | ABCA7 | c.1898C>T (p.Ala633Val) n.2578C>T c.1484C>T (p.Ala495Val) n.316C>T c.1442C>T (p.Ala481Val) n.2116C>T | gnomAD v4 |
19 | g.1047210A>C | CA504887456 | ABCA7 | c.1899A>C (p.Ala633=) n.2579A>C c.1485A>C (p.Ala495=) n.317A>C c.1443A>C (p.Ala481=) n.2117A>C | gnomAD v4 |
19 | g.1047210A>G | CA504887459 | ABCA7 | c.1899A>G (p.Ala633=) n.2579A>G c.1485A>G (p.Ala495=) n.317A>G c.1443A>G (p.Ala481=) n.2117A>G | gnomAD v3 gnomAD v4 |
19 | g.1047210A>T | CA504887458 | ABCA7 | c.1899A>T (p.Ala633=) n.2579A>T c.1485A>T (p.Ala495=) n.317A>T c.1443A>T (p.Ala481=) n.2117A>T | |
19 | g.1047211G>A | CA402952067 | ABCA7 | c.1900G>A (p.Ala634Thr) n.2580G>A c.1486G>A (p.Ala496Thr) n.318G>A c.1444G>A (p.Ala482Thr) n.2118G>A | gnomAD v4 |
19 | g.1047211G>C | CA402952068 | ABCA7 | c.1900G>C (p.Ala634Pro) n.2580G>C c.1486G>C (p.Ala496Pro) n.318G>C c.1444G>C (p.Ala482Pro) n.2118G>C | |
19 | g.1047211G>T | CA402952069 | ABCA7 | c.1900G>T (p.Ala634Ser) n.2580G>T c.1486G>T (p.Ala496Ser) n.318G>T c.1444G>T (p.Ala482Ser) n.2118G>T | gnomAD v4 |
19 | g.1047212C>A | CA402952070 | ABCA7 | c.1901C>A (p.Ala634Asp) n.2581C>A c.1487C>A (p.Ala496Asp) n.319C>A c.1445C>A (p.Ala482Asp) n.2119C>A | gnomAD v4 |
19 | g.1047212C= | CA2317482819 | ABCA7 | c.1901C= (p.Ala634=) n.2581C= c.1487C= (p.Ala496=) n.319C= c.1445C= (p.Ala482=) n.2119C= | |
19 | g.1047212C>G | CA402952071 | ABCA7 | c.1901C>G (p.Ala634Gly) n.2581C>G c.1487C>G (p.Ala496Gly) n.319C>G c.1445C>G (p.Ala482Gly) n.2119C>G | gnomAD v4 |
19 | g.1047212C>T | CA9033236 | ABCA7 | c.1901C>T (p.Ala634Val) n.2581C>T c.1487C>T (p.Ala496Val) n.319C>T c.1445C>T (p.Ala482Val) n.2119C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047213C>A | CA504887463 | ABCA7 | c.1902C>A (p.Ala634=) n.2582C>A c.1488C>A (p.Ala496=) n.320C>A c.1446C>A (p.Ala482=) n.2120C>A | |
19 | g.1047213C= | CA2317482820 | ABCA7 | c.1902C= (p.Ala634=) n.2582C= c.1488C= (p.Ala496=) n.320C= c.1446C= (p.Ala482=) n.2120C= | |
19 | g.1047213C>G | CA504887464 | ABCA7 | c.1902C>G (p.Ala634=) n.2582C>G c.1488C>G (p.Ala496=) n.320C>G c.1446C>G (p.Ala482=) n.2120C>G | |
19 | g.1047213C>T | CA9033237 | ABCA7 | c.1902C>T (p.Ala634=) n.2582C>T c.1488C>T (p.Ala496=) n.320C>T c.1446C>T (p.Ala482=) n.2120C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047214T>A | CA402952072 | ABCA7 | c.1903T>A (p.Phe635Ile) n.2583T>A c.1489T>A (p.Phe497Ile) n.321T>A c.1447T>A (p.Phe483Ile) n.2121T>A | |
19 | g.1047214T>C | CA402952073 | ABCA7 | c.1903T>C (p.Phe635Leu) n.2583T>C c.1489T>C (p.Phe497Leu) n.321T>C c.1447T>C (p.Phe483Leu) n.2121T>C | |
19 | g.1047214T>G | CA402952074 | ABCA7 | c.1903T>G (p.Phe635Val) n.2583T>G c.1489T>G (p.Phe497Val) n.321T>G c.1447T>G (p.Phe483Val) n.2121T>G | |
19 | g.1047214_1047220delinsTTCGCGG | CA2317482821 | ABCA7 | c.1903_1909delinsTTCGCGG (p.Phe635=) n.2583_2589delinsTTCGCGG c.1489_1495delinsTTCGCGG (p.Phe497=) n.321_327delinsTTCGCGG c.1447_1453delinsTTCGCGG (p.Phe483=) n.2121_2127delinsTTCGCGG | |
19 | g.1047215T>A | CA402952077 | ABCA7 | c.1904T>A (p.Phe635Tyr) n.2584T>A c.1490T>A (p.Phe497Tyr) n.322T>A c.1448T>A (p.Phe483Tyr) n.2122T>A | |
19 | g.1047215T>C | CA402952075 | ABCA7 | c.1904T>C (p.Phe635Ser) n.2584T>C c.1490T>C (p.Phe497Ser) n.322T>C c.1448T>C (p.Phe483Ser) n.2122T>C | |
19 | g.1047215T>G | CA402952076 | ABCA7 | c.1904T>G (p.Phe635Cys) n.2584T>G c.1490T>G (p.Phe497Cys) n.322T>G c.1448T>G (p.Phe483Cys) n.2122T>G | |
19 | g.1047216_1047221del | CA631297447 | ABCA7 | c.1905_1910del (p.Phe635_Val637delinsLeu) n.2585_2590del c.1491_1496del (p.Phe497_Val499delinsLeu) n.323_328del c.1449_1454del (p.Phe483_Val485delinsLeu) n.2123_2128del | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047216C>A | CA402952078 | ABCA7 | c.1905C>A (p.Phe635Leu) n.2585C>A c.1491C>A (p.Phe497Leu) n.323C>A c.1449C>A (p.Phe483Leu) n.2123C>A | gnomAD v4 |
19 | g.1047216C= | CA2317482822 | ABCA7 | c.1905C= (p.Phe635=) n.2585C= c.1491C= (p.Phe497=) n.323C= c.1449C= (p.Phe483=) n.2123C= | |
19 | g.1047216C>G | CA9033238 | ABCA7 | c.1905C>G (p.Phe635Leu) n.2585C>G c.1491C>G (p.Phe497Leu) n.323C>G c.1449C>G (p.Phe483Leu) n.2123C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047216C>T | CA504887469 | ABCA7 | c.1905C>T (p.Phe635=) n.2585C>T c.1491C>T (p.Phe497=) n.323C>T c.1449C>T (p.Phe483=) n.2123C>T | gnomAD v4 |
19 | g.1047217G>A | CA9033239 | ABCA7 | c.1906G>A (p.Ala636Thr) n.2586G>A c.1492G>A (p.Ala498Thr) n.324G>A c.1450G>A (p.Ala484Thr) n.2124G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047217G>C | CA402952079 | ABCA7 | c.1906G>C (p.Ala636Pro) n.2586G>C c.1492G>C (p.Ala498Pro) n.324G>C c.1450G>C (p.Ala484Pro) n.2124G>C | |
19 | g.1047217G= | CA2317482823 | ABCA7 | c.1906G= (p.Ala636=) n.2586G= c.1492G= (p.Ala498=) n.324G= c.1450G= (p.Ala484=) n.2124G= | |
19 | g.1047217G>T | CA402952080 | ABCA7 | c.1906G>T (p.Ala636Ser) n.2586G>T c.1492G>T (p.Ala498Ser) n.324G>T c.1450G>T (p.Ala484Ser) n.2124G>T | gnomAD v4 |
19 | g.1047217_1047226delinsGCGGTGGCCA | CA2317482824 | ABCA7 | c.1906_1915delinsGCGGTGGCCA (p.Ala636=) n.2586_2595delinsGCGGTGGCCA c.1492_1501delinsGCGGTGGCCA (p.Ala498=) n.324_333delinsGCGGTGGCCA c.1450_1459delinsGCGGTGGCCA (p.Ala484=) n.2124_2133delinsGCGGTGGCCA | |
19 | g.1047218C>A | CA402952081 | ABCA7 | c.1907C>A (p.Ala636Glu) n.2587C>A c.1493C>A (p.Ala498Glu) n.325C>A c.1451C>A (p.Ala484Glu) n.2125C>A | |
19 | g.1047218C= | CA2317482826 | ABCA7 | c.1907C= (p.Ala636=) n.2587C= c.1493C= (p.Ala498=) n.325C= c.1451C= (p.Ala484=) n.2125C= | |
19 | g.1047218C>G | CA402952082 | ABCA7 | c.1907C>G (p.Ala636Gly) n.2587C>G c.1493C>G (p.Ala498Gly) n.325C>G c.1451C>G (p.Ala484Gly) n.2125C>G | |
19 | g.1047218C>T | CA9033240 | ABCA7 | c.1907C>T (p.Ala636Val) n.2587C>T c.1493C>T (p.Ala498Val) n.325C>T c.1451C>T (p.Ala484Val) n.2125C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047223_1047231del | CA2317482825 | ABCA7 | c.1912_1920del (p.Ala638_Val640del) n.2592_2600del c.1498_1506del (p.Ala500_Val502del) n.330_338del c.1456_1464del (p.Ala486_Val488del) n.2130_2138del | dbSNP |
19 | g.1047219G>A | CA9033241 | ABCA7 | c.1908G>A (p.Ala636=) n.2588G>A c.1494G>A (p.Ala498=) n.326G>A c.1452G>A (p.Ala484=) n.2126G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047219G>C | CA504887473 | ABCA7 | c.1908G>C (p.Ala636=) n.2588G>C c.1494G>C (p.Ala498=) n.326G>C c.1452G>C (p.Ala484=) n.2126G>C | gnomAD v4 |
19 | g.1047219G= | CA2317482827 | ABCA7 | c.1908G= (p.Ala636=) n.2588G= c.1494G= (p.Ala498=) n.326G= c.1452G= (p.Ala484=) n.2126G= | |
19 | g.1047219G>T | CA504887475 | ABCA7 | c.1908G>T (p.Ala636=) n.2588G>T c.1494G>T (p.Ala498=) n.326G>T c.1452G>T (p.Ala484=) n.2126G>T | gnomAD v4 |
19 | g.1047220G>A | CA402952083 | ABCA7 | c.1909G>A (p.Val637Met) n.2589G>A c.1495G>A (p.Val499Met) n.327G>A c.1453G>A (p.Val485Met) n.2127G>A | gnomAD v4 |
19 | g.1047220G>C | CA402952084 | ABCA7 | c.1909G>C (p.Val637Leu) n.2589G>C c.1495G>C (p.Val499Leu) n.327G>C c.1453G>C (p.Val485Leu) n.2127G>C | |
19 | g.1047220G>T | CA402952085 | ABCA7 | c.1909G>T (p.Val637Leu) n.2589G>T c.1495G>T (p.Val499Leu) n.327G>T c.1453G>T (p.Val485Leu) n.2127G>T | ClinVar gnomAD v4 |
19 | g.1047221T>A | CA402952086 | ABCA7 | c.1910T>A (p.Val637Glu) n.2590T>A c.1496T>A (p.Val499Glu) n.328T>A c.1454T>A (p.Val485Glu) n.2128T>A | |
19 | g.1047221T>C | CA402952088 | ABCA7 | c.1910T>C (p.Val637Ala) n.2590T>C c.1496T>C (p.Val499Ala) n.328T>C c.1454T>C (p.Val485Ala) n.2128T>C | |
19 | g.1047221T>G | CA402952087 | ABCA7 | c.1910T>G (p.Val637Gly) n.2590T>G c.1496T>G (p.Val499Gly) n.328T>G c.1454T>G (p.Val485Gly) n.2128T>G | |
19 | g.1047222G>A | CA504887478 | ABCA7 | c.1911G>A (p.Val637=) n.2591G>A c.1497G>A (p.Val499=) n.329G>A c.1455G>A (p.Val485=) n.2129G>A | gnomAD v4 |
19 | g.1047222G>C | CA504887480 | ABCA7 | c.1911G>C (p.Val637=) n.2591G>C c.1497G>C (p.Val499=) n.329G>C c.1455G>C (p.Val485=) n.2129G>C | |
19 | g.1047222G>T | CA504887479 | ABCA7 | c.1911G>T (p.Val637=) n.2591G>T c.1497G>T (p.Val499=) n.329G>T c.1455G>T (p.Val485=) n.2129G>T | |
19 | g.1047223G>A | CA402952089 | ABCA7 | c.1912G>A (p.Ala638Thr) n.2592G>A c.1498G>A (p.Ala500Thr) n.330G>A c.1456G>A (p.Ala486Thr) n.2130G>A | gnomAD v4 |
19 | g.1047223G>C | CA402952090 | ABCA7 | c.1912G>C (p.Ala638Pro) n.2592G>C c.1498G>C (p.Ala500Pro) n.330G>C c.1456G>C (p.Ala486Pro) n.2130G>C | |
19 | g.1047223G= | CA2317482828 | ABCA7 | c.1912G= (p.Ala638=) n.2592G= c.1498G= (p.Ala500=) n.330G= c.1456G= (p.Ala486=) n.2130G= | |
19 | g.1047223G>T | CA402952091 | ABCA7 | c.1912G>T (p.Ala638Ser) n.2592G>T c.1498G>T (p.Ala500Ser) n.330G>T c.1456G>T (p.Ala486Ser) n.2130G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047224C>A | CA402952092 | ABCA7 | c.1913C>A (p.Ala638Asp) n.2593C>A c.1499C>A (p.Ala500Asp) n.331C>A c.1457C>A (p.Ala486Asp) n.2131C>A | |
19 | g.1047224C>G | CA402952093 | ABCA7 | c.1913C>G (p.Ala638Gly) n.2593C>G c.1499C>G (p.Ala500Gly) n.331C>G c.1457C>G (p.Ala486Gly) n.2131C>G | |
19 | g.1047224C>T | CA402952094 | ABCA7 | c.1913C>T (p.Ala638Val) n.2593C>T c.1499C>T (p.Ala500Val) n.331C>T c.1457C>T (p.Ala486Val) n.2131C>T | gnomAD v4 |
19 | g.1047226_1047234del | CA2588185557 | ABCA7 | c.1915_1923del (p.Thr639_Thr641del) n.2595_2603del c.1501_1509del (p.Thr501_Thr503del) n.333_341del c.1459_1467del (p.Thr487_Thr489del) n.2133_2141del | gnomAD v4 |
19 | g.1047225C>A | CA504887485 | ABCA7 | c.1914C>A (p.Ala638=) n.2594C>A c.1500C>A (p.Ala500=) n.332C>A c.1458C>A (p.Ala486=) n.2132C>A | |
19 | g.1047225C>G | CA504887487 | ABCA7 | c.1914C>G (p.Ala638=) n.2594C>G c.1500C>G (p.Ala500=) n.332C>G c.1458C>G (p.Ala486=) n.2132C>G | |
19 | g.1047225C>T | CA504887489 | ABCA7 | c.1914C>T (p.Ala638=) n.2594C>T c.1500C>T (p.Ala500=) n.332C>T c.1458C>T (p.Ala486=) n.2132C>T | |
19 | g.1047226A>C | CA402952095 | ABCA7 | c.1915A>C (p.Thr639Pro) n.2595A>C c.1501A>C (p.Thr501Pro) n.333A>C c.1459A>C (p.Thr487Pro) n.2133A>C | gnomAD v4 |
19 | g.1047226A>G | CA402952096 | ABCA7 | c.1915A>G (p.Thr639Ala) n.2595A>G c.1501A>G (p.Thr501Ala) n.333A>G c.1459A>G (p.Thr487Ala) n.2133A>G | |
19 | g.1047226A>T | CA402952097 | ABCA7 | c.1915A>T (p.Thr639Ser) n.2595A>T c.1501A>T (p.Thr501Ser) n.333A>T c.1459A>T (p.Thr487Ser) n.2133A>T | |
19 | g.1047227C>A | CA303995471 | ABCA7 | c.1916C>A (p.Thr639Lys) n.2596C>A c.1502C>A (p.Thr501Lys) n.334C>A c.1460C>A (p.Thr487Lys) n.2134C>A | dbSNP |
19 | g.1047227C= | CA2317482829 | ABCA7 | c.1916C= (p.Thr639=) n.2596C= c.1502C= (p.Thr501=) n.334C= c.1460C= (p.Thr487=) n.2134C= | |
19 | g.1047227C>G | CA402952098 | ABCA7 | c.1916C>G (p.Thr639Arg) n.2596C>G c.1502C>G (p.Thr501Arg) n.334C>G c.1460C>G (p.Thr487Arg) n.2134C>G | |
19 | g.1047227C>T | CA402952099 | ABCA7 | c.1916C>T (p.Thr639Met) n.2596C>T c.1502C>T (p.Thr501Met) n.334C>T c.1460C>T (p.Thr487Met) n.2134C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047228G>A | CA504887491 | ABCA7 | c.1917G>A (p.Thr639=) n.2597G>A c.1503G>A (p.Thr501=) n.335G>A c.1461G>A (p.Thr487=) n.2135G>A | dbSNP gnomAD v4 |
19 | g.1047228G>C | CA504887492 | ABCA7 | c.1917G>C (p.Thr639=) n.2597G>C c.1503G>C (p.Thr501=) n.335G>C c.1461G>C (p.Thr487=) n.2135G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047228G= | CA2317482830 | ABCA7 | c.1917G= (p.Thr639=) n.2597G= c.1503G= (p.Thr501=) n.335G= c.1461G= (p.Thr487=) n.2135G= | |
19 | g.1047228G>T | CA9033242 | ABCA7 | c.1917G>T (p.Thr639=) n.2597G>T c.1503G>T (p.Thr501=) n.335G>T c.1461G>T (p.Thr487=) n.2135G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047229G>A | CA402952100 | ABCA7 | c.1918G>A (p.Val640Met) n.2598G>A c.1504G>A (p.Val502Met) n.336G>A c.1462G>A (p.Val488Met) n.2136G>A | |
19 | g.1047229G>C | CA402952101 | ABCA7 | c.1918G>C (p.Val640Leu) n.2598G>C c.1504G>C (p.Val502Leu) n.336G>C c.1462G>C (p.Val488Leu) n.2136G>C | |
19 | g.1047229G>T | CA402952102 | ABCA7 | c.1918G>T (p.Val640Leu) n.2598G>T c.1504G>T (p.Val502Leu) n.336G>T c.1462G>T (p.Val488Leu) n.2136G>T | gnomAD v4 |
19 | g.1047230T>A | CA402952103 | ABCA7 | c.1919T>A (p.Val640Glu) n.2599T>A c.1505T>A (p.Val502Glu) n.337T>A c.1463T>A (p.Val488Glu) n.2137T>A | |
19 | g.1047230T>C | CA402952104 | ABCA7 | c.1919T>C (p.Val640Ala) n.2599T>C c.1505T>C (p.Val502Ala) n.337T>C c.1463T>C (p.Val488Ala) n.2137T>C | gnomAD v4 |
19 | g.1047230T>G | CA402952105 | ABCA7 | c.1919T>G (p.Val640Gly) n.2599T>G c.1505T>G (p.Val502Gly) n.337T>G c.1463T>G (p.Val488Gly) n.2137T>G | |
19 | g.1047231G>A | CA504887496 | ABCA7 | c.1920G>A (p.Val640=) n.2600G>A c.1506G>A (p.Val502=) n.338G>A c.1464G>A (p.Val488=) n.2138G>A | dbSNP gnomAD v4 |
19 | g.1047231G>C | CA504887497 | ABCA7 | c.1920G>C (p.Val640=) n.2600G>C c.1506G>C (p.Val502=) n.338G>C c.1464G>C (p.Val488=) n.2138G>C | |
19 | g.1047231G= | CA2317482831 | ABCA7 | c.1920G= (p.Val640=) n.2600G= c.1506G= (p.Val502=) n.338G= c.1464G= (p.Val488=) n.2138G= | |
19 | g.1047231G>T | CA504887499 | ABCA7 | c.1920G>T (p.Val640=) n.2600G>T c.1506G>T (p.Val502=) n.338G>T c.1464G>T (p.Val488=) n.2138G>T | gnomAD v4 |
19 | g.1047232A= | CA2317482832 | ABCA7 | c.1921A= (p.Thr641=) n.2601A= c.1507A= (p.Thr503=) n.339A= c.1465A= (p.Thr489=) n.2139A= | |
19 | g.1047232A>C | CA402952106 | ABCA7 | c.1921A>C (p.Thr641Pro) n.2601A>C c.1507A>C (p.Thr503Pro) n.339A>C c.1465A>C (p.Thr489Pro) n.2139A>C | |
19 | g.1047232A>G | CA402952107 | ABCA7 | c.1921A>G (p.Thr641Ala) n.2601A>G c.1507A>G (p.Thr503Ala) n.339A>G c.1465A>G (p.Thr489Ala) n.2139A>G | |
19 | g.1047232A>T | CA402952108 | ABCA7 | c.1921A>T (p.Thr641Ser) n.2601A>T c.1507A>T (p.Thr503Ser) n.339A>T c.1465A>T (p.Thr489Ser) n.2139A>T | dbSNP gnomAD v4 |
19 | g.1047233C>A | CA402952109 | ABCA7 | c.1922C>A (p.Thr641Asn) n.2602C>A c.1508C>A (p.Thr503Asn) n.340C>A c.1466C>A (p.Thr489Asn) n.2140C>A | |
19 | g.1047233C= | CA2317482833 | ABCA7 | c.1922C= (p.Thr641=) n.2602C= c.1508C= (p.Thr503=) n.340C= c.1466C= (p.Thr489=) n.2140C= | |
19 | g.1047233C>G | CA402952110 | ABCA7 | c.1922C>G (p.Thr641Ser) n.2602C>G c.1508C>G (p.Thr503Ser) n.340C>G c.1466C>G (p.Thr489Ser) n.2140C>G | |
19 | g.1047233C>T | CA303995495 | ABCA7 | c.1922C>T (p.Thr641Ile) n.2602C>T c.1508C>T (p.Thr503Ile) n.340C>T c.1466C>T (p.Thr489Ile) n.2140C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047234C>A | CA504887503 | ABCA7 | c.1923C>A (p.Thr641=) n.2603C>A c.1509C>A (p.Thr503=) n.341C>A c.1467C>A (p.Thr489=) n.2141C>A | gnomAD v4 |
19 | g.1047234C= | CA2317482834 | ABCA7 | c.1923C= (p.Thr641=) n.2603C= c.1509C= (p.Thr503=) n.341C= c.1467C= (p.Thr489=) n.2141C= | |
19 | g.1047234C>G | CA504887504 | ABCA7 | c.1923C>G (p.Thr641=) n.2603C>G c.1509C>G (p.Thr503=) n.341C>G c.1467C>G (p.Thr489=) n.2141C>G | |
19 | g.1047234C>T | CA504887505 | ABCA7 | c.1923C>T (p.Thr641=) n.2603C>T c.1509C>T (p.Thr503=) n.341C>T c.1467C>T (p.Thr489=) n.2141C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047235C>A | CA402952112 | ABCA7 | c.1924C>A (p.Gln642Lys) n.2604C>A c.1510C>A (p.Gln504Lys) n.342C>A c.1468C>A (p.Gln490Lys) n.2142C>A | |
19 | g.1047235C>G | CA402952113 | ABCA7 | c.1924C>G (p.Gln642Glu) n.2604C>G c.1510C>G (p.Gln504Glu) n.342C>G c.1468C>G (p.Gln490Glu) n.2142C>G | |
19 | g.1047235C>T | CA402952111 | ABCA7 | c.1924C>T (p.Gln642Ter) n.2604C>T c.1510C>T (p.Gln504Ter) n.342C>T c.1468C>T (p.Gln490Ter) n.2142C>T | |
19 | g.1047236A>C | CA402952114 | ABCA7 | c.1925A>C (p.Gln642Pro) n.2605A>C c.1511A>C (p.Gln504Pro) n.343A>C c.1469A>C (p.Gln490Pro) n.2143A>C | |
19 | g.1047236A>G | CA402952115 | ABCA7 | c.1925A>G (p.Gln642Arg) n.2605A>G c.1511A>G (p.Gln504Arg) n.343A>G c.1469A>G (p.Gln490Arg) n.2143A>G | gnomAD v4 |
19 | g.1047236A>T | CA402952116 | ABCA7 | c.1925A>T (p.Gln642Leu) n.2605A>T c.1511A>T (p.Gln504Leu) n.343A>T c.1469A>T (p.Gln490Leu) n.2143A>T | |
19 | g.1047237G>A | CA504887508 | ABCA7 | c.1926G>A (p.Gln642=) n.2606G>A c.1512G>A (p.Gln504=) n.344G>A c.1470G>A (p.Gln490=) n.2144G>A | dbSNP |
19 | g.1047237G>C | CA402952117 | ABCA7 | c.1926G>C (p.Gln642His) n.2606G>C c.1512G>C (p.Gln504His) n.344G>C c.1470G>C (p.Gln490His) n.2144G>C | gnomAD v4 |
19 | g.1047237G>T | CA402952118 | ABCA7 | c.1926G>T (p.Gln642His) n.2606G>T c.1512G>T (p.Gln504His) n.344G>T c.1470G>T (p.Gln490His) n.2144G>T | |
19 | g.1047238A>C | CA402952119 | ABCA7 | c.1927A>C (p.Ser643Arg) n.2607A>C c.1513A>C (p.Ser505Arg) n.345A>C c.1471A>C (p.Ser491Arg) n.2145A>C | |
19 | g.1047238A>G | CA402952120 | ABCA7 | c.1927A>G (p.Ser643Gly) n.2607A>G c.1513A>G (p.Ser505Gly) n.345A>G c.1471A>G (p.Ser491Gly) n.2145A>G | gnomAD v4 |
19 | g.1047238A>T | CA402952121 | ABCA7 | c.1927A>T (p.Ser643Cys) n.2607A>T c.1513A>T (p.Ser505Cys) n.345A>T c.1471A>T (p.Ser491Cys) n.2145A>T | |
19 | g.1047239G>A | CA402952122 | ABCA7 | c.1928G>A (p.Ser643Asn) n.2608G>A c.1514G>A (p.Ser505Asn) n.346G>A c.1472G>A (p.Ser491Asn) n.2146G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047239G>C | CA402952123 | ABCA7 | c.1928G>C (p.Ser643Thr) n.2608G>C c.1514G>C (p.Ser505Thr) n.346G>C c.1472G>C (p.Ser491Thr) n.2146G>C | |
19 | g.1047239G= | CA2317482835 | ABCA7 | c.1928G= (p.Ser643=) n.2608G= c.1514G= (p.Ser505=) n.346G= c.1472G= (p.Ser491=) n.2146G= | |
19 | g.1047239G>T | CA402952124 | ABCA7 | c.1928G>T (p.Ser643Ile) n.2608G>T c.1514G>T (p.Ser505Ile) n.346G>T c.1472G>T (p.Ser491Ile) n.2146G>T | gnomAD v4 |
19 | g.1047240C>A | CA402952125 | ABCA7 | c.1929C>A (p.Ser643Arg) n.2609C>A c.1515C>A (p.Ser505Arg) n.347C>A c.1473C>A (p.Ser491Arg) n.2147C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047240C= | CA2317482836 | ABCA7 | c.1929C= (p.Ser643=) n.2609C= c.1515C= (p.Ser505=) n.347C= c.1473C= (p.Ser491=) n.2147C= | |
19 | g.1047240C>G | CA402952126 | ABCA7 | c.1929C>G (p.Ser643Arg) n.2609C>G c.1515C>G (p.Ser505Arg) n.347C>G c.1473C>G (p.Ser491Arg) n.2147C>G | |
19 | g.1047240C>T | CA504887511 | ABCA7 | c.1929C>T (p.Ser643=) n.2609C>T c.1515C>T (p.Ser505=) n.347C>T c.1473C>T (p.Ser491=) n.2147C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047241T>A | CA402952129 | ABCA7 | c.1930T>A (p.Phe644Ile) n.2610T>A c.1516T>A (p.Phe506Ile) n.348T>A c.1474T>A (p.Phe492Ile) n.2148T>A | dbSNP |
19 | g.1047241T>C | CA402952128 | ABCA7 | c.1930T>C (p.Phe644Leu) n.2610T>C c.1516T>C (p.Phe506Leu) n.348T>C c.1474T>C (p.Phe492Leu) n.2148T>C | |
19 | g.1047241T>G | CA402952127 | ABCA7 | c.1930T>G (p.Phe644Val) n.2610T>G c.1516T>G (p.Phe506Val) n.348T>G c.1474T>G (p.Phe492Val) n.2148T>G | |
19 | g.1047241T= | CA2317482837 | ABCA7 | c.1930T= (p.Phe644=) n.2610T= c.1516T= (p.Phe506=) n.348T= c.1474T= (p.Phe492=) n.2148T= | |
19 | g.1047242T>A | CA402952130 | ABCA7 | c.1931T>A (p.Phe644Tyr) n.2611T>A c.1517T>A (p.Phe506Tyr) n.349T>A c.1475T>A (p.Phe492Tyr) n.2149T>A | |
19 | g.1047242T>C | CA402952131 | ABCA7 | c.1931T>C (p.Phe644Ser) n.2611T>C c.1517T>C (p.Phe506Ser) n.349T>C c.1475T>C (p.Phe492Ser) n.2149T>C | |
19 | g.1047242T>G | CA402952132 | ABCA7 | c.1931T>G (p.Phe644Cys) n.2611T>G c.1517T>G (p.Phe506Cys) n.349T>G c.1475T>G (p.Phe492Cys) n.2149T>G | |
19 | g.1047243C>A | CA402952133 | ABCA7 | c.1932C>A (p.Phe644Leu) n.2612C>A c.1518C>A (p.Phe506Leu) n.350C>A c.1476C>A (p.Phe492Leu) n.2150C>A | |
19 | g.1047243C= | CA2317482838 | ABCA7 | c.1932C= (p.Phe644=) n.2612C= c.1518C= (p.Phe506=) n.350C= c.1476C= (p.Phe492=) n.2150C= | |
19 | g.1047243C>G | CA402952134 | ABCA7 | c.1932C>G (p.Phe644Leu) n.2612C>G c.1518C>G (p.Phe506Leu) n.350C>G c.1476C>G (p.Phe492Leu) n.2150C>G | |
19 | g.1047243C>T | CA504887516 | ABCA7 | c.1932C>T (p.Phe644=) n.2612C>T c.1518C>T (p.Phe506=) n.350C>T c.1476C>T (p.Phe492=) n.2150C>T | dbSNP gnomAD v4 |
19 | g.1047244C>A | CA402952135 | ABCA7 | c.1933C>A (p.Leu645Met) n.2613C>A c.1519C>A (p.Leu507Met) n.351C>A c.1477C>A (p.Leu493Met) n.2151C>A | |
19 | g.1047244C= | CA2317482839 | ABCA7 | c.1933C= (p.Leu645=) n.2613C= c.1519C= (p.Leu507=) n.351C= c.1477C= (p.Leu493=) n.2151C= | |
19 | g.1047244C>G | CA9033243 | ABCA7 | c.1933C>G (p.Leu645Val) n.2613C>G c.1519C>G (p.Leu507Val) n.351C>G c.1477C>G (p.Leu493Val) n.2151C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047244C>T | CA504887517 | ABCA7 | c.1933C>T (p.Leu645=) n.2613C>T c.1519C>T (p.Leu507=) n.351C>T c.1477C>T (p.Leu493=) n.2151C>T | |
19 | g.1047245T>A | CA402952136 | ABCA7 | c.1934T>A (p.Leu645Gln) n.2614T>A c.1520T>A (p.Leu507Gln) n.352T>A c.1478T>A (p.Leu493Gln) n.2152T>A | |
19 | g.1047245T>C | CA402952137 | ABCA7 | c.1934T>C (p.Leu645Pro) n.2614T>C c.1520T>C (p.Leu507Pro) n.352T>C c.1478T>C (p.Leu493Pro) n.2152T>C | |
19 | g.1047245T>G | CA402952138 | ABCA7 | c.1934T>G (p.Leu645Arg) n.2614T>G c.1520T>G (p.Leu507Arg) n.352T>G c.1478T>G (p.Leu493Arg) n.2152T>G | |
19 | g.1047246G>A | CA9033244 | ABCA7 | c.1935G>A (p.Leu645=) n.2615G>A c.1521G>A (p.Leu507=) n.353G>A c.1479G>A (p.Leu493=) n.2153G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047246G>C | CA504887520 | ABCA7 | c.1935G>C (p.Leu645=) n.2615G>C c.1521G>C (p.Leu507=) n.353G>C c.1479G>C (p.Leu493=) n.2153G>C | dbSNP |
19 | g.1047246G= | CA2317482840 | ABCA7 | c.1935G= (p.Leu645=) n.2615G= c.1521G= (p.Leu507=) n.353G= c.1479G= (p.Leu493=) n.2153G= | |
19 | g.1047246G>T | CA504887521 | ABCA7 | c.1935G>T (p.Leu645=) n.2615G>T c.1521G>T (p.Leu507=) n.353G>T c.1479G>T (p.Leu493=) n.2153G>T | gnomAD v4 |
19 | g.1047247C>A | CA303995521 | ABCA7 | c.1936C>A (p.Leu646Ile) n.2616C>A c.1522C>A (p.Leu508Ile) n.354C>A c.1480C>A (p.Leu494Ile) n.2154C>A | dbSNP |
19 | g.1047247C= | CA2317482841 | ABCA7 | c.1936C= (p.Leu646=) n.2616C= c.1522C= (p.Leu508=) n.354C= c.1480C= (p.Leu494=) n.2154C= | |
19 | g.1047247C>G | CA402952139 | ABCA7 | c.1936C>G (p.Leu646Val) n.2616C>G c.1522C>G (p.Leu508Val) n.354C>G c.1480C>G (p.Leu494Val) n.2154C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.1047247C>T | CA303995508 | ABCA7 | c.1936C>T (p.Leu646Phe) n.2616C>T c.1522C>T (p.Leu508Phe) n.354C>T c.1480C>T (p.Leu494Phe) n.2154C>T | dbSNP |
19 | g.1047248T>A | CA402952141 | ABCA7 | c.1937T>A (p.Leu646His) n.2617T>A c.1523T>A (p.Leu508His) n.355T>A c.1481T>A (p.Leu494His) n.2155T>A | |
19 | g.1047248T>C | CA402952142 | ABCA7 | c.1937T>C (p.Leu646Pro) n.2617T>C c.1523T>C (p.Leu508Pro) n.355T>C c.1481T>C (p.Leu494Pro) n.2155T>C | |
19 | g.1047248T>G | CA402952140 | ABCA7 | c.1937T>G (p.Leu646Arg) n.2617T>G c.1523T>G (p.Leu508Arg) n.355T>G c.1481T>G (p.Leu494Arg) n.2155T>G | |
19 | g.1047249C>A | CA504887524 | ABCA7 | c.1938C>A (p.Leu646=) n.2618C>A c.1524C>A (p.Leu508=) n.356C>A c.1482C>A (p.Leu494=) n.2156C>A | |
19 | g.1047249C>G | CA504887525 | ABCA7 | c.1938C>G (p.Leu646=) n.2618C>G c.1524C>G (p.Leu508=) n.356C>G c.1482C>G (p.Leu494=) n.2156C>G | |
19 | g.1047249C>T | CA504887527 | ABCA7 | c.1938C>T (p.Leu646=) n.2618C>T c.1524C>T (p.Leu508=) n.356C>T c.1482C>T (p.Leu494=) n.2156C>T | |
19 | g.1047249dup | CA2576543455 | ABCA7 | c.1938dup (p.Ser647GlnfsTer?) n.2618dup c.1524dup (p.Ser509GlnfsTer?) n.356dup c.1482dup (p.Ser495GlnfsTer?) n.2156dup | |
19 | g.1047250A>C | CA402952143 | ABCA7 | c.1939A>C (p.Ser647Arg) n.2619A>C c.1525A>C (p.Ser509Arg) n.357A>C c.1483A>C (p.Ser495Arg) n.2157A>C | |
19 | g.1047250A>G | CA402952144 | ABCA7 | c.1939A>G (p.Ser647Gly) n.2619A>G c.1525A>G (p.Ser509Gly) n.357A>G c.1483A>G (p.Ser495Gly) n.2157A>G | gnomAD v4 |
19 | g.1047250A>T | CA402952145 | ABCA7 | c.1939A>T (p.Ser647Cys) n.2619A>T c.1525A>T (p.Ser509Cys) n.357A>T c.1483A>T (p.Ser495Cys) n.2157A>T | |
19 | g.1047251G>A | CA402952146 | ABCA7 | c.1940G>A (p.Ser647Asn) n.2620G>A c.1526G>A (p.Ser509Asn) n.358G>A c.1484G>A (p.Ser495Asn) n.2158G>A | |
19 | g.1047251G>C | CA402952147 | ABCA7 | c.1940G>C (p.Ser647Thr) n.2620G>C c.1526G>C (p.Ser509Thr) n.358G>C c.1484G>C (p.Ser495Thr) n.2158G>C | |
19 | g.1047251G>T | CA402952148 | ABCA7 | c.1940G>T (p.Ser647Ile) n.2620G>T c.1526G>T (p.Ser509Ile) n.358G>T c.1484G>T (p.Ser495Ile) n.2158G>T | gnomAD v4 |
19 | g.1047252C>A | CA402952150 | ABCA7 | c.1941C>A (p.Ser647Arg) n.2621C>A c.1527C>A (p.Ser509Arg) n.359C>A c.1485C>A (p.Ser495Arg) n.2159C>A | |
19 | g.1047252C= | CA2317482842 | ABCA7 | c.1941C= (p.Ser647=) n.2621C= c.1527C= (p.Ser509=) n.359C= c.1485C= (p.Ser495=) n.2159C= | |
19 | g.1047252C>G | CA402952149 | ABCA7 | c.1941C>G (p.Ser647Arg) n.2621C>G c.1527C>G (p.Ser509Arg) n.359C>G c.1485C>G (p.Ser495Arg) n.2159C>G | |
19 | g.1047252C>T | CA303995522 | ABCA7 | c.1941C>T (p.Ser647=) n.2621C>T c.1527C>T (p.Ser509=) n.359C>T c.1485C>T (p.Ser495=) n.2159C>T | dbSNP gnomAD v4 |
19 | g.1047253G>A | CA9033245 | ABCA7 | c.1942G>A (p.Ala648Thr) n.2622G>A c.1528G>A (p.Ala510Thr) n.360G>A c.1486G>A (p.Ala496Thr) n.2160G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.1047253G>C | CA402952151 | ABCA7 | c.1942G>C (p.Ala648Pro) n.2622G>C c.1528G>C (p.Ala510Pro) n.360G>C c.1486G>C (p.Ala496Pro) n.2160G>C | |
19 | g.1047253G= | CA2317482843 | ABCA7 | c.1942G= (p.Ala648=) n.2622G= c.1528G= (p.Ala510=) n.360G= c.1486G= (p.Ala496=) n.2160G= | |
19 | g.1047253G>T | CA402952152 | ABCA7 | c.1942G>T (p.Ala648Ser) n.2622G>T c.1528G>T (p.Ala510Ser) n.360G>T c.1486G>T (p.Ala496Ser) n.2160G>T | dbSNP gnomAD v4 |
19 | g.1047254C>A | CA402952153 | ABCA7 | c.1943C>A (p.Ala648Asp) n.2623C>A c.1529C>A (p.Ala510Asp) n.361C>A c.1487C>A (p.Ala496Asp) n.2161C>A | |
19 | g.1047254C= | CA2317482845 | ABCA7 | c.1943C= (p.Ala648=) n.2623C= c.1529C= (p.Ala510=) n.361C= c.1487C= (p.Ala496=) n.2161C= | |
19 | g.1047254C>G | CA402952154 | ABCA7 | c.1943C>G (p.Ala648Gly) n.2623C>G c.1529C>G (p.Ala510Gly) n.361C>G c.1487C>G (p.Ala496Gly) n.2161C>G | |
19 | g.1047254C>T | CA9033246 | ABCA7 | c.1943C>T (p.Ala648Val) n.2623C>T c.1529C>T (p.Ala510Val) n.361C>T c.1487C>T (p.Ala496Val) n.2161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047254_1047257delinsCCTT | CA2317482844 | ABCA7 | c.1943_1946delinsCCTT (p.Ala648=) n.2623_2626delinsCCTT c.1529_1532delinsCCTT (p.Ala510=) n.361_364delinsCCTT c.1487_1490delinsCCTT (p.Ala496=) n.2161_2164delinsCCTT | |
19 | g.1047255C>A | CA504887533 | ABCA7 | c.1944C>A (p.Ala648=) n.2624C>A c.1530C>A (p.Ala510=) n.362C>A c.1488C>A (p.Ala496=) n.2162C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047255C= | CA2317482846 | ABCA7 | c.1944C= (p.Ala648=) n.2624C= c.1530C= (p.Ala510=) n.362C= c.1488C= (p.Ala496=) n.2162C= | |
19 | g.1047255C>G | CA504887535 | ABCA7 | c.1944C>G (p.Ala648=) n.2624C>G c.1530C>G (p.Ala510=) n.362C>G c.1488C>G (p.Ala496=) n.2162C>G | |
19 | g.1047255C>T | CA504887537 | ABCA7 | c.1944C>T (p.Ala648=) n.2624C>T c.1530C>T (p.Ala510=) n.362C>T c.1488C>T (p.Ala496=) n.2162C>T | gnomAD v3 gnomAD v4 |
19 | g.1047260_1047262del | CA9033247 | ABCA7 | c.1949_1951del (p.Phe650del) n.2629_2631del c.1535_1537del (p.Phe512del) n.367_369del c.1493_1495del (p.Phe498del) n.2167_2169del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047256T>A | CA402952155 | ABCA7 | c.1945T>A (p.Phe649Ile) n.2625T>A c.1531T>A (p.Phe511Ile) n.363T>A c.1489T>A (p.Phe497Ile) n.2163T>A | |
19 | g.1047256T>C | CA9033248 | ABCA7 | c.1945T>C (p.Phe649Leu) n.2625T>C c.1531T>C (p.Phe511Leu) n.363T>C c.1489T>C (p.Phe497Leu) n.2163T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047256T>G | CA9033249 | ABCA7 | c.1945T>G (p.Phe649Val) n.2625T>G c.1531T>G (p.Phe511Val) n.363T>G c.1489T>G (p.Phe497Val) n.2163T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047256T= | CA2317482847 | ABCA7 | c.1945T= (p.Phe649=) n.2625T= c.1531T= (p.Phe511=) n.363T= c.1489T= (p.Phe497=) n.2163T= | |
19 | g.1047257T>A | CA402952156 | ABCA7 | c.1946T>A (p.Phe649Tyr) n.2626T>A c.1532T>A (p.Phe511Tyr) n.364T>A c.1490T>A (p.Phe497Tyr) n.2164T>A | |
19 | g.1047257T>C | CA9033250 | ABCA7 | c.1946T>C (p.Phe649Ser) n.2626T>C c.1532T>C (p.Phe511Ser) n.364T>C c.1490T>C (p.Phe497Ser) n.2164T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047257T>G | CA402952157 | ABCA7 | c.1946T>G (p.Phe649Cys) n.2626T>G c.1532T>G (p.Phe511Cys) n.364T>G c.1490T>G (p.Phe497Cys) n.2164T>G | |
19 | g.1047257T= | CA2317482848 | ABCA7 | c.1946T= (p.Phe649=) n.2626T= c.1532T= (p.Phe511=) n.364T= c.1490T= (p.Phe497=) n.2164T= | |
19 | g.1047258C>A | CA402952158 | ABCA7 | c.1947C>A (p.Phe649Leu) n.2627C>A c.1533C>A (p.Phe511Leu) n.365C>A c.1491C>A (p.Phe497Leu) n.2165C>A | |
19 | g.1047258C>G | CA402952159 | ABCA7 | c.1947C>G (p.Phe649Leu) n.2627C>G c.1533C>G (p.Phe511Leu) n.365C>G c.1491C>G (p.Phe497Leu) n.2165C>G | |
19 | g.1047258C>T | CA504887541 | ABCA7 | c.1947C>T (p.Phe649=) n.2627C>T c.1533C>T (p.Phe511=) n.365C>T c.1491C>T (p.Phe497=) n.2165C>T | gnomAD v4 |
19 | g.1047259T>A | CA402952160 | ABCA7 | c.1948T>A (p.Phe650Ile) n.2628T>A c.1534T>A (p.Phe512Ile) n.366T>A c.1492T>A (p.Phe498Ile) n.2166T>A | |
19 | g.1047259T>C | CA402952161 | ABCA7 | c.1948T>C (p.Phe650Leu) n.2628T>C c.1534T>C (p.Phe512Leu) n.366T>C c.1492T>C (p.Phe498Leu) n.2166T>C | |
19 | g.1047259T>G | CA402952162 | ABCA7 | c.1948T>G (p.Phe650Val) n.2628T>G c.1534T>G (p.Phe512Val) n.366T>G c.1492T>G (p.Phe498Val) n.2166T>G | |
19 | g.1047260T>A | CA402952165 | ABCA7 | c.1949T>A (p.Phe650Tyr) n.2629T>A c.1535T>A (p.Phe512Tyr) n.367T>A c.1493T>A (p.Phe498Tyr) n.2167T>A | |
19 | g.1047260T>C | CA402952164 | ABCA7 | c.1949T>C (p.Phe650Ser) n.2629T>C c.1535T>C (p.Phe512Ser) n.367T>C c.1493T>C (p.Phe498Ser) n.2167T>C | gnomAD v4 |
19 | g.1047260T>G | CA402952163 | ABCA7 | c.1949T>G (p.Phe650Cys) n.2629T>G c.1535T>G (p.Phe512Cys) n.367T>G c.1493T>G (p.Phe498Cys) n.2167T>G | |
19 | g.1047260_1047261delinsTC | CA2317482849 | ABCA7 | c.1949_1950delinsTC (p.Phe650=) n.2629_2630delinsTC c.1535_1536delinsTC (p.Phe512=) n.367_368delinsTC c.1493_1494delinsTC (p.Phe498=) n.2167_2168delinsTC | |
19 | g.1047261del | CA9033251 | ABCA7 | c.1950del (p.Ser651ProfsTer?) n.2630del c.1536del (p.Ser513ProfsTer?) n.368del c.1494del (p.Ser499ProfsTer?) n.2168del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047261C>A | CA402952166 | ABCA7 | c.1950C>A (p.Phe650Leu) n.2630C>A c.1536C>A (p.Phe512Leu) n.368C>A c.1494C>A (p.Phe498Leu) n.2168C>A | gnomAD v4 |
19 | g.1047261C= | CA2317482850 | ABCA7 | c.1950C= (p.Phe650=) n.2630C= c.1536C= (p.Phe512=) n.368C= c.1494C= (p.Phe498=) n.2168C= | |
19 | g.1047261C>G | CA9033252 | ABCA7 | c.1950C>G (p.Phe650Leu) n.2630C>G c.1536C>G (p.Phe512Leu) n.368C>G c.1494C>G (p.Phe498Leu) n.2168C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047261C>T | CA9033253 | ABCA7 | c.1950C>T (p.Phe650=) n.2630C>T c.1536C>T (p.Phe512=) n.368C>T c.1494C>T (p.Phe498=) n.2168C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.1047262T>A | CA402952169 | ABCA7 | c.1951T>A (p.Ser651Thr) n.2631T>A c.1537T>A (p.Ser513Thr) n.369T>A c.1495T>A (p.Ser499Thr) n.2169T>A | |
19 | g.1047262T>C | CA402952167 | ABCA7 | c.1951T>C (p.Ser651Pro) n.2631T>C c.1537T>C (p.Ser513Pro) n.369T>C c.1495T>C (p.Ser499Pro) n.2169T>C | gnomAD v4 |
19 | g.1047262T>G | CA402952168 | ABCA7 | c.1951T>G (p.Ser651Ala) n.2631T>G c.1537T>G (p.Ser513Ala) n.369T>G c.1495T>G (p.Ser499Ala) n.2169T>G | |
19 | g.1047263C>A | CA402952170 | ABCA7 | c.1952C>A (p.Ser651Tyr) n.2632C>A c.1538C>A (p.Ser513Tyr) n.370C>A c.1496C>A (p.Ser499Tyr) n.2170C>A | gnomAD v4 |
19 | g.1047263C= | CA2317482851 | ABCA7 | c.1952C= (p.Ser651=) n.2632C= c.1538C= (p.Ser513=) n.370C= c.1496C= (p.Ser499=) n.2170C= | |
19 | g.1047263C>G | CA9033254 | ABCA7 | c.1952C>G (p.Ser651Cys) n.2632C>G c.1538C>G (p.Ser513Cys) n.370C>G c.1496C>G (p.Ser499Cys) n.2170C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047263C>T | CA402952171 | ABCA7 | c.1952C>T (p.Ser651Phe) n.2632C>T c.1538C>T (p.Ser513Phe) n.370C>T c.1496C>T (p.Ser499Phe) n.2170C>T | dbSNP gnomAD v4 |
19 | g.1047264C>A | CA504887551 | ABCA7 | c.1953C>A (p.Ser651=) n.2633C>A c.1539C>A (p.Ser513=) n.371C>A c.1497C>A (p.Ser499=) n.2171C>A | |
19 | g.1047264C>G | CA504887552 | ABCA7 | c.1953C>G (p.Ser651=) n.2633C>G c.1539C>G (p.Ser513=) n.371C>G c.1497C>G (p.Ser499=) n.2171C>G | |
19 | g.1047264C>T | CA504887553 | ABCA7 | c.1953C>T (p.Ser651=) n.2633C>T c.1539C>T (p.Ser513=) n.371C>T c.1497C>T (p.Ser499=) n.2171C>T | gnomAD v4 |