Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
19 | g.1047265C>A | CA9033255 | ABCA7 | c.1954C>A (p.Arg652Ser) n.2634C>A c.1540C>A (p.Arg514Ser) n.372C>A c.1498C>A (p.Arg500Ser) n.2172C>A | dbSNP ExAC gnomAD v4 |
19 | g.1047265C= | CA2317482852 | ABCA7 | c.1954C= (p.Arg652=) n.2634C= c.1540C= (p.Arg514=) n.372C= c.1498C= (p.Arg500=) n.2172C= | |
19 | g.1047265C>G | CA9033256 | ABCA7 | c.1954C>G (p.Arg652Gly) n.2634C>G c.1540C>G (p.Arg514Gly) n.372C>G c.1498C>G (p.Arg500Gly) n.2172C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047265C>T | CA402952172 | ABCA7 | c.1954C>T (p.Arg652Cys) n.2634C>T c.1540C>T (p.Arg514Cys) n.372C>T c.1498C>T (p.Arg500Cys) n.2172C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047266G>A | CA303995557 | ABCA7 | c.1955G>A (p.Arg652His) n.2635G>A c.1541G>A (p.Arg514His) n.373G>A c.1499G>A (p.Arg500His) n.2173G>A | dbSNP gnomAD v4 |
19 | g.1047266G>C | CA402952173 | ABCA7 | c.1955G>C (p.Arg652Pro) n.2635G>C c.1541G>C (p.Arg514Pro) n.373G>C c.1499G>C (p.Arg500Pro) n.2173G>C | gnomAD v4 |
19 | g.1047266G= | CA2317482853 | ABCA7 | c.1955G= (p.Arg652=) n.2635G= c.1541G= (p.Arg514=) n.373G= c.1499G= (p.Arg500=) n.2173G= | |
19 | g.1047266G>T | CA9033257 | ABCA7 | c.1955G>T (p.Arg652Leu) n.2635G>T c.1541G>T (p.Arg514Leu) n.373G>T c.1499G>T (p.Arg500Leu) n.2173G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.1047267C>A | CA504887559 | ABCA7 | c.1956C>A (p.Arg652=) n.2636C>A c.1542C>A (p.Arg514=) n.374C>A c.1500C>A (p.Arg500=) n.2174C>A | gnomAD v4 |
19 | g.1047267C= | CA2317482854 | ABCA7 | c.1956C= (p.Arg652=) n.2636C= c.1542C= (p.Arg514=) n.374C= c.1500C= (p.Arg500=) n.2174C= | |
19 | g.1047267C>G | CA504887556 | ABCA7 | c.1956C>G (p.Arg652=) n.2636C>G c.1542C>G (p.Arg514=) n.374C>G c.1500C>G (p.Arg500=) n.2174C>G | |
19 | g.1047267C>T | CA9033258 | ABCA7 | c.1956C>T (p.Arg652=) n.2636C>T c.1542C>T (p.Arg514=) n.374C>T c.1500C>T (p.Arg500=) n.2174C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.1047268G>A | CA402952176 | ABCA7 | c.1957G>A (p.Ala653Thr) n.2637G>A c.1543G>A (p.Ala515Thr) n.375G>A c.1501G>A (p.Ala501Thr) n.2175G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.1047268G>C | CA402952174 | ABCA7 | c.1957G>C (p.Ala653Pro) n.2637G>C c.1543G>C (p.Ala515Pro) n.375G>C c.1501G>C (p.Ala501Pro) n.2175G>C | |
19 | g.1047268G= | CA2317482855 | ABCA7 | c.1957G= (p.Ala653=) n.2637G= c.1543G= (p.Ala515=) n.375G= c.1501G= (p.Ala501=) n.2175G= | |
19 | g.1047268G>T | CA402952175 | ABCA7 | c.1957G>T (p.Ala653Ser) n.2637G>T c.1543G>T (p.Ala515Ser) n.375G>T c.1501G>T (p.Ala501Ser) n.2175G>T | gnomAD v4 |
19 | g.1047269C>A | CA402952177 | ABCA7 | c.1958C>A (p.Ala653Asp) n.2638C>A c.1544C>A (p.Ala515Asp) n.376C>A c.1502C>A (p.Ala501Asp) n.2176C>A | dbSNP |
19 | g.1047269C= | CA2317482856 | ABCA7 | c.1958C= (p.Ala653=) n.2638C= c.1544C= (p.Ala515=) n.376C= c.1502C= (p.Ala501=) n.2176C= | |
19 | g.1047269C>G | CA402952178 | ABCA7 | c.1958C>G (p.Ala653Gly) n.2638C>G c.1544C>G (p.Ala515Gly) n.376C>G c.1502C>G (p.Ala501Gly) n.2176C>G | |
19 | g.1047269C>T | CA402952179 | ABCA7 | c.1958C>T (p.Ala653Val) n.2638C>T c.1544C>T (p.Ala515Val) n.376C>T c.1502C>T (p.Ala501Val) n.2176C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.1047270C>A | CA504887562 | ABCA7 | c.1959C>A (p.Ala653=) n.2639C>A c.1545C>A (p.Ala515=) n.377C>A c.1503C>A (p.Ala501=) n.2177C>A | |
19 | g.1047270C>G | CA504887564 | ABCA7 | c.1959C>G (p.Ala653=) n.2639C>G c.1545C>G (p.Ala515=) n.377C>G c.1503C>G (p.Ala501=) n.2177C>G | |
19 | g.1047270C>T | CA504887565 | ABCA7 | c.1959C>T (p.Ala653=) n.2639C>T c.1545C>T (p.Ala515=) n.377C>T c.1503C>T (p.Ala501=) n.2177C>T | gnomAD v4 |
19 | g.1047271A>C | CA402952180 | ABCA7 | c.1960A>C (p.Asn654His) n.2640A>C c.1546A>C (p.Asn516His) n.378A>C c.1504A>C (p.Asn502His) n.2178A>C | |
19 | g.1047271A>G | CA402952181 | ABCA7 | c.1960A>G (p.Asn654Asp) n.2640A>G c.1546A>G (p.Asn516Asp) n.378A>G c.1504A>G (p.Asn502Asp) n.2178A>G | |
19 | g.1047271A>T | CA402952182 | ABCA7 | c.1960A>T (p.Asn654Tyr) n.2640A>T c.1546A>T (p.Asn516Tyr) n.378A>T c.1504A>T (p.Asn502Tyr) n.2178A>T | |
19 | g.1047272A>C | CA402952183 | ABCA7 | c.1961A>C (p.Asn654Thr) n.2641A>C c.1547A>C (p.Asn516Thr) n.379A>C c.1505A>C (p.Asn502Thr) n.2179A>C | |
19 | g.1047272A>G | CA402952184 | ABCA7 | c.1961A>G (p.Asn654Ser) n.2641A>G c.1547A>G (p.Asn516Ser) n.379A>G c.1505A>G (p.Asn502Ser) n.2179A>G | gnomAD v4 |
19 | g.1047272A>T | CA402952185 | ABCA7 | c.1961A>T (p.Asn654Ile) n.2641A>T c.1547A>T (p.Asn516Ile) n.379A>T c.1505A>T (p.Asn502Ile) n.2179A>T | |
19 | g.1047273C>A | CA402952186 | ABCA7 | c.1962C>A (p.Asn654Lys) n.2642C>A c.1548C>A (p.Asn516Lys) n.380C>A c.1506C>A (p.Asn502Lys) n.2180C>A | |
19 | g.1047273C>G | CA402952187 | ABCA7 | c.1962C>G (p.Asn654Lys) n.2642C>G c.1548C>G (p.Asn516Lys) n.380C>G c.1506C>G (p.Asn502Lys) n.2180C>G | gnomAD v4 |
19 | g.1047273C>T | CA504887570 | ABCA7 | c.1962C>T (p.Asn654=) n.2642C>T c.1548C>T (p.Asn516=) n.380C>T c.1506C>T (p.Asn502=) n.2180C>T | gnomAD v4 |
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.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 |