Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1047266G>ACA303995557ABCA7c.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
19g.1047266G>CCA402952173ABCA7c.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
19g.1047266G=CA2317482853ABCA7c.1955G= (p.Arg652=)
n.2635G=
c.1541G= (p.Arg514=)
n.373G=
c.1499G= (p.Arg500=)
n.2173G=
19g.1047266G>TCA9033257ABCA7c.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
19g.1047267C>ACA504887559ABCA7c.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
19g.1047267C=CA2317482854ABCA7c.1956C= (p.Arg652=)
n.2636C=
c.1542C= (p.Arg514=)
n.374C=
c.1500C= (p.Arg500=)
n.2174C=
19g.1047267C>GCA504887556ABCA7c.1956C>G (p.Arg652=)
n.2636C>G
c.1542C>G (p.Arg514=)
n.374C>G
c.1500C>G (p.Arg500=)
n.2174C>G
19g.1047267C>TCA9033258ABCA7c.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
19g.1047268G>ACA402952176ABCA7c.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
19g.1047268G>CCA402952174ABCA7c.1957G>C (p.Ala653Pro)
n.2637G>C
c.1543G>C (p.Ala515Pro)
n.375G>C
c.1501G>C (p.Ala501Pro)
n.2175G>C
19g.1047268G=CA2317482855ABCA7c.1957G= (p.Ala653=)
n.2637G=
c.1543G= (p.Ala515=)
n.375G=
c.1501G= (p.Ala501=)
n.2175G=
19g.1047268G>TCA402952175ABCA7c.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
19g.1047269C>ACA402952177ABCA7c.1958C>A (p.Ala653Asp)
n.2638C>A
c.1544C>A (p.Ala515Asp)
n.376C>A
c.1502C>A (p.Ala501Asp)
n.2176C>A
 dbSNP
19g.1047269C=CA2317482856ABCA7c.1958C= (p.Ala653=)
n.2638C=
c.1544C= (p.Ala515=)
n.376C=
c.1502C= (p.Ala501=)
n.2176C=
19g.1047269C>GCA402952178ABCA7c.1958C>G (p.Ala653Gly)
n.2638C>G
c.1544C>G (p.Ala515Gly)
n.376C>G
c.1502C>G (p.Ala501Gly)
n.2176C>G
19g.1047269C>TCA402952179ABCA7c.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
19g.1047270C>ACA504887562ABCA7c.1959C>A (p.Ala653=)
n.2639C>A
c.1545C>A (p.Ala515=)
n.377C>A
c.1503C>A (p.Ala501=)
n.2177C>A
19g.1047270C>GCA504887564ABCA7c.1959C>G (p.Ala653=)
n.2639C>G
c.1545C>G (p.Ala515=)
n.377C>G
c.1503C>G (p.Ala501=)
n.2177C>G
19g.1047270C>TCA504887565ABCA7c.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
19g.1047271A>CCA402952180ABCA7c.1960A>C (p.Asn654His)
n.2640A>C
c.1546A>C (p.Asn516His)
n.378A>C
c.1504A>C (p.Asn502His)
n.2178A>C
19g.1047271A>GCA402952181ABCA7c.1960A>G (p.Asn654Asp)
n.2640A>G
c.1546A>G (p.Asn516Asp)
n.378A>G
c.1504A>G (p.Asn502Asp)
n.2178A>G
19g.1047271A>TCA402952182ABCA7c.1960A>T (p.Asn654Tyr)
n.2640A>T
c.1546A>T (p.Asn516Tyr)
n.378A>T
c.1504A>T (p.Asn502Tyr)
n.2178A>T
19g.1047272A>CCA402952183ABCA7c.1961A>C (p.Asn654Thr)
n.2641A>C
c.1547A>C (p.Asn516Thr)
n.379A>C
c.1505A>C (p.Asn502Thr)
n.2179A>C
19g.1047272A>GCA402952184ABCA7c.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
19g.1047272A>TCA402952185ABCA7c.1961A>T (p.Asn654Ile)
n.2641A>T
c.1547A>T (p.Asn516Ile)
n.379A>T
c.1505A>T (p.Asn502Ile)
n.2179A>T
19g.1047273C>ACA402952186ABCA7c.1962C>A (p.Asn654Lys)
n.2642C>A
c.1548C>A (p.Asn516Lys)
n.380C>A
c.1506C>A (p.Asn502Lys)
n.2180C>A
19g.1047273C>GCA402952187ABCA7c.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
19g.1047273C>TCA504887570ABCA7c.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
19g.1047274C>ACA402952189ABCA7c.1963C>A (p.Leu655Met)
n.2643C>A
c.1549C>A (p.Leu517Met)
n.381C>A
c.1507C>A (p.Leu503Met)
n.2181C>A
19g.1047274C=CA2317482857ABCA7c.1963C= (p.Leu655=)
n.2643C=
c.1549C= (p.Leu517=)
n.381C=
c.1507C= (p.Leu503=)
n.2181C=
19g.1047274C>GCA402952188ABCA7c.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
19g.1047274C>TCA9033259ABCA7c.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
19g.1047275T>ACA402952190ABCA7c.1964T>A (p.Leu655Gln)
n.2644T>A
c.1550T>A (p.Leu517Gln)
n.382T>A
c.1508T>A (p.Leu503Gln)
n.2182T>A
19g.1047275T>CCA402952191ABCA7c.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
19g.1047275T>GCA402952192ABCA7c.1964T>G (p.Leu655Arg)
n.2644T>G
c.1550T>G (p.Leu517Arg)
n.382T>G
c.1508T>G (p.Leu503Arg)
n.2182T>G
19g.1047275T=CA2317482858ABCA7c.1964T= (p.Leu655=)
n.2644T=
c.1550T= (p.Leu517=)
n.382T=
c.1508T= (p.Leu503=)
n.2182T=
19g.1047276G>ACA9033260ABCA7c.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
19g.1047276G>CCA504887576ABCA7c.1965G>C (p.Leu655=)
n.2645G>C
c.1551G>C (p.Leu517=)
n.383G>C
c.1509G>C (p.Leu503=)
n.2183G>C
19g.1047276G=CA2317482859ABCA7c.1965G= (p.Leu655=)
n.2645G=
c.1551G= (p.Leu517=)
n.383G=
c.1509G= (p.Leu503=)
n.2183G=
19g.1047276G>TCA504887578ABCA7c.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
19g.1047277G>ACA402952193ABCA7c.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
19g.1047277G>CCA402952194ABCA7c.1966G>C (p.Ala656Pro)
n.2646G>C
c.1552G>C (p.Ala518Pro)
n.384G>C
c.1510G>C (p.Ala504Pro)
n.2184G>C
19g.1047277G>TCA402952195ABCA7c.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
19g.1047279_1047288delCA2588185558ABCA7c.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
19g.1047278C>ACA402952196ABCA7c.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
19g.1047278C>GCA402952198ABCA7c.1967C>G (p.Ala656Gly)
n.2647C>G
c.1553C>G (p.Ala518Gly)
n.385C>G
c.1511C>G (p.Ala504Gly)
n.2185C>G
19g.1047278C>TCA402952197ABCA7c.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
19g.1047279T>ACA504887583ABCA7c.1968T>A (p.Ala656=)
n.2648T>A
c.1554T>A (p.Ala518=)
n.386T>A
c.1512T>A (p.Ala504=)
n.2186T>A
19g.1047279T>CCA504887585ABCA7c.1968T>C (p.Ala656=)
n.2648T>C
c.1554T>C (p.Ala518=)
n.386T>C
c.1512T>C (p.Ala504=)
n.2186T>C
19g.1047279T>GCA504887586ABCA7c.1968T>G (p.Ala656=)
n.2648T>G
c.1554T>G (p.Ala518=)
n.386T>G
c.1512T>G (p.Ala504=)
n.2186T>G
19g.1047279_1047289delinsTGCGGCCTGCGCA2317482860ABCA7c.1968_1978delinsTGCGGCCTGCG (p.Ala656=)
n.2648_2658delinsTGCGGCCTGCG
c.1554_1564delinsTGCGGCCTGCG (p.Ala518=)
n.386_396delinsTGCGGCCTGCG
c.1512_1522delinsTGCGGCCTGCG (p.Ala504=)
n.2186_2196delinsTGCGGCCTGCG
19g.1047280G>ACA402952199ABCA7c.1969G>A (p.Ala657Thr)
n.2649G>A
c.1555G>A (p.Ala519Thr)
n.387G>A
c.1513G>A (p.Ala505Thr)
n.2187G>A
19g.1047280G>CCA402952200ABCA7c.1969G>C (p.Ala657Pro)
n.2649G>C
c.1555G>C (p.Ala519Pro)
n.387G>C
c.1513G>C (p.Ala505Pro)
n.2187G>C
19g.1047280G>TCA402952201ABCA7c.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
19g.1047288_1047297delCA9033261ABCA7c.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
19g.1047281C>ACA402952202ABCA7c.1970C>A (p.Ala657Glu)
n.2650C>A
c.1556C>A (p.Ala519Glu)
n.388C>A
c.1514C>A (p.Ala505Glu)
n.2188C>A
19g.1047281C=CA2317482861ABCA7c.1970C= (p.Ala657=)
n.2650C=
c.1556C= (p.Ala519=)
n.388C=
c.1514C= (p.Ala505=)
n.2188C=
19g.1047281C>GCA402952203ABCA7c.1970C>G (p.Ala657Gly)
n.2650C>G
c.1556C>G (p.Ala519Gly)
n.388C>G
c.1514C>G (p.Ala505Gly)
n.2188C>G
19g.1047281C>TCA303995575ABCA7c.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
19g.1047281_1047296delinsCGGCCTGCGGCGGCCTCA2317482862ABCA7c.1970_1985delinsCGGCCTGCGGCGGCCT (p.Ala657=)
n.2650_2665delinsCGGCCTGCGGCGGCCT
c.1556_1571delinsCGGCCTGCGGCGGCCT (p.Ala519=)
n.388_403delinsCGGCCTGCGGCGGCCT
c.1514_1529delinsCGGCCTGCGGCGGCCT (p.Ala505=)
n.2188_2203delinsCGGCCTGCGGCGGCCT
19g.1047282G>ACA504887592ABCA7c.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
19g.1047282G>CCA504887591ABCA7c.1971G>C (p.Ala657=)
n.2651G>C
c.1557G>C (p.Ala519=)
n.389G>C
c.1515G>C (p.Ala505=)
n.2189G>C
19g.1047282G>TCA504887589ABCA7c.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
19g.1047287_1047301delCA920034901ABCA7c.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
19g.1047283G>ACA402952204ABCA7c.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
19g.1047283G>CCA402952205ABCA7c.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
19g.1047283G>TCA402952206ABCA7c.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
19g.1047284C>ACA402952208ABCA7c.1973C>A (p.Ala658Asp)
n.2653C>A
c.1559C>A (p.Ala520Asp)
n.391C>A
c.1517C>A (p.Ala506Asp)
n.2191C>A
 COSMIC
19g.1047284C>GCA402952210ABCA7c.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
19g.1047284C>TCA402952212ABCA7c.1973C>T (p.Ala658Val)
n.2653C>T
c.1559C>T (p.Ala520Val)
n.391C>T
c.1517C>T (p.Ala506Val)
n.2191C>T
 COSMIC
19g.1047285C>ACA9033262ABCA7c.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
19g.1047285C=CA2317482863ABCA7c.1974C= (p.Ala658=)
n.2654C=
c.1560C= (p.Ala520=)
n.392C=
c.1518C= (p.Ala506=)
n.2192C=
19g.1047285C>GCA504887596ABCA7c.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
19g.1047285C>TCA504887598ABCA7c.1974C>T (p.Ala658=)
n.2654C>T
c.1560C>T (p.Ala520=)
n.392C>T
c.1518C>T (p.Ala506=)
n.2192C>T
19g.1047286T>ACA9033263ABCA7c.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
19g.1047286T>CCA402952215ABCA7c.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
19g.1047286T>GCA402952217ABCA7c.1975T>G (p.Cys659Gly)
n.2655T>G
c.1561T>G (p.Cys521Gly)
n.393T>G
c.1519T>G (p.Cys507Gly)
n.2193T>G
19g.1047286T=CA2317482864ABCA7c.1975T= (p.Cys659=)
n.2655T=
c.1561T= (p.Cys521=)
n.393T=
c.1519T= (p.Cys507=)
n.2193T=
19g.1047287G>ACA402952223ABCA7c.1976G>A (p.Cys659Tyr)
n.2656G>A
c.1562G>A (p.Cys521Tyr)
n.394G>A
c.1520G>A (p.Cys507Tyr)
n.2194G>A
19g.1047287G>CCA402952221ABCA7c.1976G>C (p.Cys659Ser)
n.2656G>C
c.1562G>C (p.Cys521Ser)
n.394G>C
c.1520G>C (p.Cys507Ser)
n.2194G>C
19g.1047287G>TCA402952219ABCA7c.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
19g.1047288C>ACA402952224ABCA7c.1977C>A (p.Cys659Ter)
n.2657C>A
c.1563C>A (p.Cys521Ter)
n.395C>A
c.1521C>A (p.Cys507Ter)
n.2195C>A
19g.1047288C=CA2317482865ABCA7c.1977C= (p.Cys659=)
n.2657C=
c.1563C= (p.Cys521=)
n.395C=
c.1521C= (p.Cys507=)
n.2195C=
19g.1047288C>GCA402952226ABCA7c.1977C>G (p.Cys659Trp)
n.2657C>G
c.1563C>G (p.Cys521Trp)
n.395C>G
c.1521C>G (p.Cys507Trp)
n.2195C>G
19g.1047288C>TCA9033264ABCA7c.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
19g.1047288_1047289insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAACA2813242330ABCA7c.1977_1978insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
n.2657_2658insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
c.1563_1564insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
n.395_396insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
c.1521_1522insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
n.2195_2196insATGCGTGTGCCAAGAAGCCCCGCCTTCTCTCCAAGGGAATAA
19g.1047289G>ACA9033265ABCA7c.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
19g.1047289G>CCA303995604ABCA7c.1978G>C (p.Gly660Arg)
n.2658G>C
c.1564G>C (p.Gly522Arg)
n.396G>C
c.1522G>C (p.Gly508Arg)
n.2196G>C
 dbSNP
19g.1047289G=CA2317482866ABCA7c.1978G= (p.Gly660=)
n.2658G=
c.1564G= (p.Gly522=)
n.396G=
c.1522G= (p.Gly508=)
n.2196G=
19g.1047289G>TCA402952228ABCA7c.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
19g.1047290G>ACA402952230ABCA7c.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
19g.1047290G>CCA402952232ABCA7c.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
19g.1047290G>TCA402952234ABCA7c.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
19g.1047291C>ACA504887606ABCA7c.1980C>A (p.Gly660=)
n.2660C>A
c.1566C>A (p.Gly522=)
n.398C>A
c.1524C>A (p.Gly508=)
n.2198C>A
19g.1047291C=CA2317482867ABCA7c.1980C= (p.Gly660=)
n.2660C=
c.1566C= (p.Gly522=)
n.398C=
c.1524C= (p.Gly508=)
n.2198C=
19g.1047291C>GCA504887608ABCA7c.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
19g.1047291C>TCA504887609ABCA7c.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
19g.1047292G>ACA402952236ABCA7c.1981G>A (p.Gly661Ser)
n.2661G>A
c.1567G>A (p.Gly523Ser)
n.399G>A
c.1525G>A (p.Gly509Ser)
n.2199G>A
 dbSNP
19g.1047292G>CCA402952238ABCA7c.1981G>C (p.Gly661Arg)
n.2661G>C
c.1567G>C (p.Gly523Arg)
n.399G>C
c.1525G>C (p.Gly509Arg)
n.2199G>C
19g.1047292G=CA2317482868ABCA7c.1981G= (p.Gly661=)
n.2661G=
c.1567G= (p.Gly523=)
n.399G=
c.1525G= (p.Gly509=)
n.2199G=
19g.1047292G>TCA402952240ABCA7c.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
19g.1047297_1047301dupCA2588185559ABCA7c.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
19g.1047293G>ACA402952242ABCA7c.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
19g.1047293G>CCA402952244ABCA7c.1982G>C (p.Gly661Ala)
n.2662G>C
c.1568G>C (p.Gly523Ala)
n.400G>C
c.1526G>C (p.Gly509Ala)
n.2200G>C
19g.1047293G=CA2317482870ABCA7c.1982G= (p.Gly661=)
n.2662G=
c.1568G= (p.Gly523=)
n.400G=
c.1526G= (p.Gly509=)
n.2200G=
19g.1047293G>TCA402952246ABCA7c.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
19g.1047293_1047294delinsGCCA2317482869ABCA7c.1982_1983delinsGC (p.Gly661=)
n.2662_2663delinsGC
c.1568_1569delinsGC (p.Gly523=)
n.400_401delinsGC
c.1526_1527delinsGC (p.Gly509=)
n.2200_2201delinsGC
19g.1047294C>ACA504887612ABCA7c.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
19g.1047294C>GCA504887613ABCA7c.1983C>G (p.Gly661=)
n.2663C>G
c.1569C>G (p.Gly523=)
n.401C>G
c.1527C>G (p.Gly509=)
n.2201C>G
19g.1047294C>TCA504887614ABCA7c.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
19g.1047295delCA783177174ABCA7c.1984del (p.Leu662TrpfsTer?)
n.2664del
c.1570del (p.Leu524TrpfsTer?)
n.402del
c.1528del (p.Leu510TrpfsTer?)
n.2202del
 dbSNP gnomAD v4
19g.1047295C>ACA402952250ABCA7c.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
19g.1047295C>GCA402952248ABCA7c.1984C>G (p.Leu662Val)
n.2664C>G
c.1570C>G (p.Leu524Val)
n.402C>G
c.1528C>G (p.Leu510Val)
n.2202C>G
19g.1047295C>TCA504887615ABCA7c.1984C>T (p.Leu662=)
n.2664C>T
c.1570C>T (p.Leu524=)
n.402C>T
c.1528C>T (p.Leu510=)
n.2202C>T
19g.1047296T>ACA402952252ABCA7c.1985T>A (p.Leu662Gln)
n.2665T>A
c.1571T>A (p.Leu524Gln)
n.403T>A
c.1529T>A (p.Leu510Gln)
n.2203T>A
19g.1047296T>CCA402952254ABCA7c.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
19g.1047296T>GCA9033266ABCA7c.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
19g.1047296T=CA2317482871ABCA7c.1985T= (p.Leu662=)
n.2665T=
c.1571T= (p.Leu524=)
n.403T=
c.1529T= (p.Leu510=)
n.2203T=
19g.1047297G>ACA504887616ABCA7c.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
19g.1047297G>CCA504887617ABCA7c.1986G>C (p.Leu662=)
n.2666G>C
c.1572G>C (p.Leu524=)
n.404G>C
c.1530G>C (p.Leu510=)
n.2204G>C
19g.1047297G>TCA504887618ABCA7c.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
19g.1047298G>ACA402952257ABCA7c.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
19g.1047298G>CCA402952259ABCA7c.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
19g.1047298G>TCA402952261ABCA7c.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
19g.1047299C>ACA402952263ABCA7c.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
19g.1047299C>GCA402952265ABCA7c.1988C>G (p.Ala663Gly)
n.2668C>G
c.1574C>G (p.Ala525Gly)
n.406C>G
c.1532C>G (p.Ala511Gly)
n.2206C>G
19g.1047299C>TCA402952267ABCA7c.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
19g.1047300C>ACA504887619ABCA7c.1989C>A (p.Ala663=)
n.2669C>A
c.1575C>A (p.Ala525=)
n.407C>A
c.1533C>A (p.Ala511=)
n.2207C>A
19g.1047300C>GCA504887620ABCA7c.1989C>G (p.Ala663=)
n.2669C>G
c.1575C>G (p.Ala525=)
n.407C>G
c.1533C>G (p.Ala511=)
n.2207C>G
19g.1047300C>TCA504887621ABCA7c.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
19g.1047301T>ACA402952269ABCA7c.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
19g.1047301T>CCA402952271ABCA7c.1990T>C (p.Tyr664His)
n.2670T>C
c.1576T>C (p.Tyr526His)
n.408T>C
c.1534T>C (p.Tyr512His)
n.2208T>C
19g.1047301T>GCA402952273ABCA7c.1990T>G (p.Tyr664Asp)
n.2670T>G
c.1576T>G (p.Tyr526Asp)
n.408T>G
c.1534T>G (p.Tyr512Asp)
n.2208T>G
19g.1047302A=CA2317482872ABCA7c.1991A= (p.Tyr664=)
n.2671A=
c.1577A= (p.Tyr526=)
n.409A=
c.1535A= (p.Tyr512=)
n.2209A=
19g.1047302A>CCA402952278ABCA7c.1991A>C (p.Tyr664Ser)
n.2671A>C
c.1577A>C (p.Tyr526Ser)
n.409A>C
c.1535A>C (p.Tyr512Ser)
n.2209A>C
19g.1047302A>GCA303995628ABCA7c.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
19g.1047302A>TCA402952275ABCA7c.1991A>T (p.Tyr664Phe)
n.2671A>T
c.1577A>T (p.Tyr526Phe)
n.409A>T
c.1535A>T (p.Tyr512Phe)
n.2209A>T
19g.1047303C>ACA402952280ABCA7c.1992C>A (p.Tyr664Ter)
n.2672C>A
c.1578C>A (p.Tyr526Ter)
n.410C>A
c.1536C>A (p.Tyr512Ter)
n.2210C>A
19g.1047303C>GCA402952282ABCA7c.1992C>G (p.Tyr664Ter)
n.2672C>G
c.1578C>G (p.Tyr526Ter)
n.410C>G
c.1536C>G (p.Tyr512Ter)
n.2210C>G
19g.1047303C>TCA504887622ABCA7c.1992C>T (p.Tyr664=)
n.2672C>T
c.1578C>T (p.Tyr526=)
n.410C>T
c.1536C>T (p.Tyr512=)
n.2210C>T
19g.1047305_1047307delCA2813242331ABCA7c.1994_1996del (p.Phe665del)
n.2674_2676del
c.1580_1582del (p.Phe527del)
n.412_414del
c.1538_1540del (p.Phe513del)
n.2212_2214del
19g.1047304T>ACA402952284ABCA7c.1993T>A (p.Phe665Ile)
n.2673T>A
c.1579T>A (p.Phe527Ile)
n.411T>A
c.1537T>A (p.Phe513Ile)
n.2211T>A
19g.1047304T>CCA9033267ABCA7c.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
19g.1047304T>GCA402952286ABCA7c.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
19g.1047304T=CA2317482873ABCA7c.1993T= (p.Phe665=)
n.2673T=
c.1579T= (p.Phe527=)
n.411T=
c.1537T= (p.Phe513=)
n.2211T=
19g.1047305T>ACA402952288ABCA7c.1994T>A (p.Phe665Tyr)
n.2674T>A
c.1580T>A (p.Phe527Tyr)
n.412T>A
c.1538T>A (p.Phe513Tyr)
n.2212T>A
19g.1047305T>CCA402952289ABCA7c.1994T>C (p.Phe665Ser)
n.2674T>C
c.1580T>C (p.Phe527Ser)
n.412T>C
c.1538T>C (p.Phe513Ser)
n.2212T>C
19g.1047305T>GCA402952291ABCA7c.1994T>G (p.Phe665Cys)
n.2674T>G
c.1580T>G (p.Phe527Cys)
n.412T>G
c.1538T>G (p.Phe513Cys)
n.2212T>G
19g.1047306C>ACA402952292ABCA7c.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
19g.1047306C=CA2317482874ABCA7c.1995C= (p.Phe665=)
n.2675C=
c.1581C= (p.Phe527=)
n.413C=
c.1539C= (p.Phe513=)
n.2213C=
19g.1047306C>GCA402952293ABCA7c.1995C>G (p.Phe665Leu)
n.2675C>G
c.1581C>G (p.Phe527Leu)
n.413C>G
c.1539C>G (p.Phe513Leu)
n.2213C>G
 dbSNP
19g.1047306C>TCA504887623ABCA7c.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
19g.1047307T>ACA402952295ABCA7c.1996T>A (p.Ser666Thr)
n.2676T>A
c.1582T>A (p.Ser528Thr)
n.414T>A
c.1540T>A (p.Ser514Thr)
n.2214T>A
19g.1047307T>CCA402952297ABCA7c.1996T>C (p.Ser666Pro)
n.2676T>C
c.1582T>C (p.Ser528Pro)
n.414T>C
c.1540T>C (p.Ser514Pro)
n.2214T>C
19g.1047307T>GCA402952298ABCA7c.1996T>G (p.Ser666Ala)
n.2676T>G
c.1582T>G (p.Ser528Ala)
n.414T>G
c.1540T>G (p.Ser514Ala)
n.2214T>G
19g.1047307_1047318delinsTCCCTCTACCTGCA2317482875ABCA7c.1996_2007delinsTCCCTCTACCTG (p.Ser666=)
n.2676_2687delinsTCCCTCTACCTG
c.1582_1593delinsTCCCTCTACCTG (p.Ser528=)
n.414_425delinsTCCCTCTACCTG
c.1540_1551delinsTCCCTCTACCTG (p.Ser514=)
n.2214_2225delinsTCCCTCTACCTG
19g.1047308C>ACA402952300ABCA7c.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
19g.1047308C=CA2317482876ABCA7c.1997C= (p.Ser666=)
n.2677C=
c.1583C= (p.Ser528=)
n.415C=
c.1541C= (p.Ser514=)
n.2215C=
19g.1047308C>GCA402952299ABCA7c.1997C>G (p.Ser666Cys)
n.2677C>G
c.1583C>G (p.Ser528Cys)
n.415C>G
c.1541C>G (p.Ser514Cys)
n.2215C>G
19g.1047308C>TCA9033268ABCA7c.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
19g.1047312_1047322delCA303995633ABCA7c.2001_2011del (p.Tyr668ArgfsTer?)
n.2681_2691del
c.1587_1597del (p.Tyr530ArgfsTer?)
n.419_429del
c.1545_1555del (p.Tyr516ArgfsTer?)
n.2219_2229del
 dbSNP
19g.1047309C>ACA504887626ABCA7c.1998C>A (p.Ser666=)
n.2678C>A
c.1584C>A (p.Ser528=)
n.416C>A
c.1542C>A (p.Ser514=)
n.2216C>A
19g.1047309C=CA2317482877ABCA7c.1998C= (p.Ser666=)
n.2678C=
c.1584C= (p.Ser528=)
n.416C=
c.1542C= (p.Ser514=)
n.2216C=
19g.1047309C>GCA504887625ABCA7c.1998C>G (p.Ser666=)
n.2678C>G
c.1584C>G (p.Ser528=)
n.416C>G
c.1542C>G (p.Ser514=)
n.2216C>G
19g.1047309C>TCA504887624ABCA7c.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
19g.1047310C>ACA402952301ABCA7c.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
19g.1047310C=CA2317482878ABCA7c.1999C= (p.Leu667=)
n.2679C=
c.1585C= (p.Leu529=)
n.417C=
c.1543C= (p.Leu515=)
n.2217C=
19g.1047310C>GCA402952302ABCA7c.1999C>G (p.Leu667Val)
n.2679C>G
c.1585C>G (p.Leu529Val)
n.417C>G
c.1543C>G (p.Leu515Val)
n.2217C>G
19g.1047310C>TCA9033269ABCA7c.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
19g.1047312_1047313delCA2588185560ABCA7c.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
19g.1047311T>ACA402952305ABCA7c.2000T>A (p.Leu667His)
n.2680T>A
c.1586T>A (p.Leu529His)
n.418T>A
c.1544T>A (p.Leu515His)
n.2218T>A
19g.1047311T>CCA402952306ABCA7c.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
19g.1047311T>GCA402952308ABCA7c.2000T>G (p.Leu667Arg)
n.2680T>G
c.1586T>G (p.Leu529Arg)
n.418T>G
c.1544T>G (p.Leu515Arg)
n.2218T>G
19g.1047312C>ACA504887627ABCA7c.2001C>A (p.Leu667=)
n.2681C>A
c.1587C>A (p.Leu529=)
n.419C>A
c.1545C>A (p.Leu515=)
n.2219C>A
19g.1047312C>GCA504887628ABCA7c.2001C>G (p.Leu667=)
n.2681C>G
c.1587C>G (p.Leu529=)
n.419C>G
c.1545C>G (p.Leu515=)
n.2219C>G
19g.1047312C>TCA504887629ABCA7c.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
19g.1047313T>ACA402952310ABCA7c.2002T>A (p.Tyr668Asn)
n.2682T>A
c.1588T>A (p.Tyr530Asn)
n.420T>A
c.1546T>A (p.Tyr516Asn)
n.2220T>A
19g.1047313T>CCA402952312ABCA7c.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
19g.1047313T>GCA402952314ABCA7c.2002T>G (p.Tyr668Asp)
n.2682T>G
c.1588T>G (p.Tyr530Asp)
n.420T>G
c.1546T>G (p.Tyr516Asp)
n.2220T>G
19g.1047314A>CCA402952316ABCA7c.2003A>C (p.Tyr668Ser)
n.2683A>C
c.1589A>C (p.Tyr530Ser)
n.421A>C
c.1547A>C (p.Tyr516Ser)
n.2221A>C
19g.1047314A>GCA402952318ABCA7c.2003A>G (p.Tyr668Cys)
n.2683A>G
c.1589A>G (p.Tyr530Cys)
n.421A>G
c.1547A>G (p.Tyr516Cys)
n.2221A>G
19g.1047314A>TCA402952320ABCA7c.2003A>T (p.Tyr668Phe)
n.2683A>T
c.1589A>T (p.Tyr530Phe)
n.421A>T
c.1547A>T (p.Tyr516Phe)
n.2221A>T
19g.1047315C>ACA402952323ABCA7c.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
19g.1047315C=CA2317482879ABCA7c.2004C= (p.Tyr668=)
n.2684C=
c.1590C= (p.Tyr530=)
n.422C=
c.1548C= (p.Tyr516=)
n.2222C=
19g.1047315C>GCA402952324ABCA7c.2004C>G (p.Tyr668Ter)
n.2684C>G
c.1590C>G (p.Tyr530Ter)
n.422C>G
c.1548C>G (p.Tyr516Ter)
n.2222C>G
19g.1047315C>TCA504887630ABCA7c.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
19g.1047316C>ACA402952325ABCA7c.2005C>A (p.Leu669Met)
n.2685C>A
c.1591C>A (p.Leu531Met)
n.423C>A
c.1549C>A (p.Leu517Met)
n.2223C>A
19g.1047316C>GCA402952326ABCA7c.2005C>G (p.Leu669Val)
n.2685C>G
c.1591C>G (p.Leu531Val)
n.423C>G
c.1549C>G (p.Leu517Val)
n.2223C>G
19g.1047316C>TCA504887631ABCA7c.2005C>T (p.Leu669=)
n.2685C>T
c.1591C>T (p.Leu531=)
n.423C>T
c.1549C>T (p.Leu517=)
n.2223C>T
19g.1047317T>ACA402952328ABCA7c.2006T>A (p.Leu669Gln)
n.2686T>A
c.1592T>A (p.Leu531Gln)
n.424T>A
c.1550T>A (p.Leu517Gln)
n.2224T>A
19g.1047317T>CCA402952332ABCA7c.2006T>C (p.Leu669Pro)
n.2686T>C
c.1592T>C (p.Leu531Pro)
n.424T>C
c.1550T>C (p.Leu517Pro)
n.2224T>C
19g.1047317T>GCA402952330ABCA7c.2006T>G (p.Leu669Arg)
n.2686T>G
c.1592T>G (p.Leu531Arg)
n.424T>G
c.1550T>G (p.Leu517Arg)
n.2224T>G
19g.1047318G>ACA9033270ABCA7c.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
19g.1047318G>CCA504887632ABCA7c.2007G>C (p.Leu669=)
n.2687G>C
c.1593G>C (p.Leu531=)
n.425G>C
c.1551G>C (p.Leu517=)
n.2225G>C
19g.1047318G=CA2317482880ABCA7c.2007G= (p.Leu669=)
n.2687G=
c.1593G= (p.Leu531=)
n.425G=
c.1551G= (p.Leu517=)
n.2225G=
19g.1047318G>TCA504887633ABCA7c.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
19g.1047319C>ACA402952335ABCA7c.2008C>A (p.Pro670Thr)
n.2688C>A
c.1594C>A (p.Pro532Thr)
n.426C>A
c.1552C>A (p.Pro518Thr)
n.2226C>A
19g.1047319C>GCA402952336ABCA7c.2008C>G (p.Pro670Ala)
n.2688C>G
c.1594C>G (p.Pro532Ala)
n.426C>G
c.1552C>G (p.Pro518Ala)
n.2226C>G
19g.1047319C>TCA402952337ABCA7c.2008C>T (p.Pro670Ser)
n.2688C>T
c.1594C>T (p.Pro532Ser)
n.426C>T
c.1552C>T (p.Pro518Ser)
n.2226C>T
19g.1047320C>ACA402952340ABCA7c.2009C>A (p.Pro670His)
n.2689C>A
c.1595C>A (p.Pro532His)
n.427C>A
c.1553C>A (p.Pro518His)
n.2227C>A
19g.1047320C>GCA402952342ABCA7c.2009C>G (p.Pro670Arg)
n.2689C>G
c.1595C>G (p.Pro532Arg)
n.427C>G
c.1553C>G (p.Pro518Arg)
n.2227C>G
19g.1047320C>TCA402952343ABCA7c.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
19g.1047321C>ACA504887634ABCA7c.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
19g.1047321C>GCA504887635ABCA7c.2010C>G (p.Pro670=)
n.2690C>G
c.1596C>G (p.Pro532=)
n.428C>G
c.1554C>G (p.Pro518=)
n.2228C>G
19g.1047321C>TCA504887636ABCA7c.2010C>T (p.Pro670=)
n.2690C>T
c.1596C>T (p.Pro532=)
n.428C>T
c.1554C>T (p.Pro518=)
n.2228C>T
19g.1047322T>ACA402952350ABCA7c.2011T>A (p.Tyr671Asn)
n.2691T>A
c.1597T>A (p.Tyr533Asn)
n.429T>A
c.1555T>A (p.Tyr519Asn)
n.2229T>A
19g.1047322T>CCA402952346ABCA7c.2011T>C (p.Tyr671His)
n.2691T>C
c.1597T>C (p.Tyr533His)
n.429T>C
c.1555T>C (p.Tyr519His)
n.2229T>C
19g.1047322T>GCA402952348ABCA7c.2011T>G (p.Tyr671Asp)
n.2691T>G
c.1597T>G (p.Tyr533Asp)
n.429T>G
c.1555T>G (p.Tyr519Asp)
n.2229T>G
19g.1047323A=CA2317482881ABCA7c.2012A= (p.Tyr671=)
n.2692A=
c.1598A= (p.Tyr533=)
n.430A=
c.1556A= (p.Tyr519=)
n.2230A=
19g.1047323A>CCA402952353ABCA7c.2012A>C (p.Tyr671Ser)
n.2692A>C
c.1598A>C (p.Tyr533Ser)
n.430A>C
c.1556A>C (p.Tyr519Ser)
n.2230A>C
19g.1047323A>GCA9033271ABCA7c.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
19g.1047323A>TCA402952355ABCA7c.2012A>T (p.Tyr671Phe)
n.2692A>T
c.1598A>T (p.Tyr533Phe)
n.430A>T
c.1556A>T (p.Tyr519Phe)
n.2230A>T
19g.1047324C>ACA402952357ABCA7c.2013C>A (p.Tyr671Ter)
n.2693C>A
c.1599C>A (p.Tyr533Ter)
n.431C>A
c.1557C>A (p.Tyr519Ter)
n.2231C>A
19g.1047324C=CA2317482882ABCA7c.2013C= (p.Tyr671=)
n.2693C=
c.1599C= (p.Tyr533=)
n.431C=
c.1557C= (p.Tyr519=)
n.2231C=
19g.1047324C>GCA402952359ABCA7c.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
19g.1047324C>TCA303995639ABCA7c.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
19g.1047325G>ACA9033272ABCA7c.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
19g.1047325G>CCA402952361ABCA7c.2014G>C (p.Val672Leu)
n.2694G>C
c.1600G>C (p.Val534Leu)
n.432G>C
c.1558G>C (p.Val520Leu)
n.2232G>C
19g.1047325G=CA2317482883ABCA7c.2014G= (p.Val672=)
n.2694G=
c.1600G= (p.Val534=)
n.432G=
c.1558G= (p.Val520=)
n.2232G=
19g.1047325G>TCA402952360ABCA7c.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
19g.1047326T>ACA402952362ABCA7c.2015T>A (p.Val672Glu)
n.2695T>A
c.1601T>A (p.Val534Glu)
n.433T>A
c.1559T>A (p.Val520Glu)
n.2233T>A
19g.1047326T>CCA402952363ABCA7c.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
19g.1047326T>GCA402952364ABCA7c.2015T>G (p.Val672Gly)
n.2695T>G
c.1601T>G (p.Val534Gly)
n.433T>G
c.1559T>G (p.Val520Gly)
n.2233T>G
19g.1047326T=CA2317482884ABCA7c.2015T= (p.Val672=)
n.2695T=
c.1601T= (p.Val534=)
n.433T=
c.1559T= (p.Val520=)
n.2233T=
19g.1047327G>ACA504887637ABCA7c.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
19g.1047327G>CCA504887638ABCA7c.2016G>C (p.Val672=)
n.2696G>C
c.1602G>C (p.Val534=)
n.434G>C
c.1560G>C (p.Val520=)
n.2234G>C
19g.1047327G>TCA504887639ABCA7c.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
19g.1047328C>ACA402952366ABCA7c.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
19g.1047328C=CA2317482885ABCA7c.2017C= (p.Leu673=)
n.2697C=
c.1603C= (p.Leu535=)
n.435C=
c.1561C= (p.Leu521=)
n.2235C=
19g.1047328C>GCA402952368ABCA7c.2017C>G (p.Leu673Val)
n.2697C>G
c.1603C>G (p.Leu535Val)
n.435C>G
c.1561C>G (p.Leu521Val)
n.2235C>G
19g.1047328C>TCA504887640ABCA7c.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
19g.1047329T>ACA402952369ABCA7c.2018T>A (p.Leu673Gln)
n.2698T>A
c.1604T>A (p.Leu535Gln)
n.436T>A
c.1562T>A (p.Leu521Gln)
n.2236T>A
19g.1047329T>CCA402952370ABCA7c.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
19g.1047329T>GCA402952371ABCA7c.2018T>G (p.Leu673Arg)
n.2698T>G
c.1604T>G (p.Leu535Arg)
n.436T>G
c.1562T>G (p.Leu521Arg)
n.2236T>G
19g.1047335_1047336delCA2588185561ABCA7c.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
19g.1047330G>ACA504887641ABCA7c.2019G>A (p.Leu673=)
n.2699G>A
c.1605G>A (p.Leu535=)
n.437G>A
c.1563G>A (p.Leu521=)
n.2237G>A
19g.1047330G>CCA504887642ABCA7c.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
19g.1047330G=CA2317482886ABCA7c.2019G= (p.Leu673=)
n.2699G=
c.1605G= (p.Leu535=)
n.437G=
c.1563G= (p.Leu521=)
n.2237G=
19g.1047330G>TCA504887643ABCA7c.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
19g.1047331T>ACA402952372ABCA7c.2020T>A (p.Cys674Ser)
n.2700T>A
c.1606T>A (p.Cys536Ser)
n.438T>A
c.1564T>A (p.Cys522Ser)
n.2238T>A
19g.1047331T>CCA402952374ABCA7c.2020T>C (p.Cys674Arg)
n.2700T>C
c.1606T>C (p.Cys536Arg)
n.438T>C
c.1564T>C (p.Cys522Arg)
n.2238T>C
19g.1047331T>GCA402952377ABCA7c.2020T>G (p.Cys674Gly)
n.2700T>G
c.1606T>G (p.Cys536Gly)
n.438T>G
c.1564T>G (p.Cys522Gly)
n.2238T>G
19g.1047332G>ACA9033273ABCA7c.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
19g.1047332G>CCA402952382ABCA7c.2021G>C (p.Cys674Ser)
n.2701G>C
c.1607G>C (p.Cys536Ser)
n.439G>C
c.1565G>C (p.Cys522Ser)
n.2239G>C
19g.1047332G=CA2317482887ABCA7c.2021G= (p.Cys674=)
n.2701G=
c.1607G= (p.Cys536=)
n.439G=
c.1565G= (p.Cys522=)
n.2239G=
19g.1047332G>TCA402952380ABCA7c.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
19g.1047333T>ACA402952383ABCA7c.2022T>A (p.Cys674Ter)
n.2702T>A
c.1608T>A (p.Cys536Ter)
n.440T>A
c.1566T>A (p.Cys522Ter)
n.2240T>A
19g.1047333T>CCA9033274ABCA7c.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
19g.1047333T>GCA402952385ABCA7c.2022T>G (p.Cys674Trp)
n.2702T>G
c.1608T>G (p.Cys536Trp)
n.440T>G
c.1566T>G (p.Cys522Trp)
n.2240T>G
19g.1047333T=CA2317482888ABCA7c.2022T= (p.Cys674=)
n.2702T=
c.1608T= (p.Cys536=)
n.440T=
c.1566T= (p.Cys522=)
n.2240T=
19g.1047334G>ACA402952388ABCA7c.2023G>A (p.Val675Met)
n.2703G>A
c.1609G>A (p.Val537Met)
n.441G>A
c.1567G>A (p.Val523Met)
n.2241G>A
19g.1047334G>CCA402952390ABCA7c.2023G>C (p.Val675Leu)
n.2703G>C
c.1609G>C (p.Val537Leu)
n.441G>C
c.1567G>C (p.Val523Leu)
n.2241G>C
19g.1047334G>TCA402952392ABCA7c.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
19g.1047335T>ACA402952394ABCA7c.2024T>A (p.Val675Glu)
n.2704T>A
c.1610T>A (p.Val537Glu)
n.442T>A
c.1568T>A (p.Val523Glu)
n.2242T>A
19g.1047335T>CCA402952396ABCA7c.2024T>C (p.Val675Ala)
n.2704T>C
c.1610T>C (p.Val537Ala)
n.442T>C
c.1568T>C (p.Val523Ala)
n.2242T>C
19g.1047335T>GCA402952398ABCA7c.2024T>G (p.Val675Gly)
n.2704T>G
c.1610T>G (p.Val537Gly)
n.442T>G
c.1568T>G (p.Val523Gly)
n.2242T>G
19g.1047336G>ACA504887644ABCA7c.2025G>A (p.Val675=)
n.2705G>A
c.1611G>A (p.Val537=)
n.443G>A
c.1569G>A (p.Val523=)
n.2243G>A
 dbSNP gnomAD v3 gnomAD v4
19g.1047336G>CCA504887645ABCA7c.2025G>C (p.Val675=)
n.2705G>C
c.1611G>C (p.Val537=)
n.443G>C
c.1569G>C (p.Val523=)
n.2243G>C
 gnomAD v4
19g.1047336G=CA2317482889ABCA7c.2025G= (p.Val675=)
n.2705G=
c.1611G= (p.Val537=)
n.443G=
c.1569G= (p.Val523=)
n.2243G=
19g.1047336G>TCA504887646ABCA7c.2025G>T (p.Val675=)
n.2705G>T
c.1611G>T (p.Val537=)
n.443G>T
c.1569G>T (p.Val523=)
n.2243G>T
 gnomAD v4
19g.1047337G>ACA9033275ABCA7c.2026G>A (p.Ala676Thr)
n.2706G>A
c.1612G>A (p.Ala538Thr)
n.444G>A
c.1570G>A (p.Ala524Thr)
n.2244G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047337G>CCA402952401ABCA7c.2026G>C (p.Ala676Pro)
n.2706G>C
c.1612G>C (p.Ala538Pro)
n.444G>C
c.1570G>C (p.Ala524Pro)
n.2244G>C
 dbSNP gnomAD v4
19g.1047337G=CA2317482890ABCA7c.2026G= (p.Ala676=)
n.2706G=
c.1612G= (p.Ala538=)
n.444G=
c.1570G= (p.Ala524=)
n.2244G=
19g.1047337G>TCA402952402ABCA7c.2026G>T (p.Ala676Ser)
n.2706G>T
c.1612G>T (p.Ala538Ser)
n.444G>T
c.1570G>T (p.Ala524Ser)
n.2244G>T
 gnomAD v4
19g.1047338C>ACA402952406ABCA7c.2027C>A (p.Ala676Asp)
n.2707C>A
c.1613C>A (p.Ala538Asp)
n.445C>A
c.1571C>A (p.Ala524Asp)
n.2245C>A
 gnomAD v4
19g.1047338C>GCA402952403ABCA7c.2027C>G (p.Ala676Gly)
n.2707C>G
c.1613C>G (p.Ala538Gly)
n.445C>G
c.1571C>G (p.Ala524Gly)
n.2245C>G
19g.1047338C>TCA402952404ABCA7c.2027C>T (p.Ala676Val)
n.2707C>T
c.1613C>T (p.Ala538Val)
n.445C>T
c.1571C>T (p.Ala524Val)
n.2245C>T
19g.1047339T>ACA504887647ABCA7c.2028T>A (p.Ala676=)
n.2708T>A
c.1614T>A (p.Ala538=)
n.446T>A
c.1572T>A (p.Ala524=)
n.2246T>A
19g.1047339T>CCA504887648ABCA7c.2028T>C (p.Ala676=)
n.2708T>C
c.1614T>C (p.Ala538=)
n.446T>C
c.1572T>C (p.Ala524=)
n.2246T>C
 dbSNP gnomAD v2 gnomAD v4
19g.1047339T>GCA504887649ABCA7c.2028T>G (p.Ala676=)
n.2708T>G
c.1614T>G (p.Ala538=)
n.446T>G
c.1572T>G (p.Ala524=)
n.2246T>G
19g.1047339T=CA2317482891ABCA7c.2028T= (p.Ala676=)
n.2708T=
c.1614T= (p.Ala538=)
n.446T=
c.1572T= (p.Ala524=)
n.2246T=
19g.1047340T>ACA402952408ABCA7c.2029T>A (p.Trp677Arg)
n.2709T>A
c.1615T>A (p.Trp539Arg)
n.447T>A
c.1573T>A (p.Trp525Arg)
n.2247T>A
19g.1047340T>CCA402952410ABCA7c.2029T>C (p.Trp677Arg)
n.2709T>C
c.1615T>C (p.Trp539Arg)
n.447T>C
c.1573T>C (p.Trp525Arg)
n.2247T>C
19g.1047340T>GCA402952411ABCA7c.2029T>G (p.Trp677Gly)
n.2709T>G
c.1615T>G (p.Trp539Gly)
n.447T>G
c.1573T>G (p.Trp525Gly)
n.2247T>G
19g.1047341G>ACA402952413ABCA7c.2030G>A (p.Trp677Ter)
n.2710G>A
c.1616G>A (p.Trp539Ter)
n.448G>A
c.1574G>A (p.Trp525Ter)
n.2248G>A
 gnomAD v4 COSMIC
19g.1047341G>CCA402952414ABCA7c.2030G>C (p.Trp677Ser)
n.2710G>C
c.1616G>C (p.Trp539Ser)
n.448G>C
c.1574G>C (p.Trp525Ser)
n.2248G>C
 dbSNP
19g.1047341G>TCA402952415ABCA7c.2030G>T (p.Trp677Leu)
n.2710G>T
c.1616G>T (p.Trp539Leu)
n.448G>T
c.1574G>T (p.Trp525Leu)
n.2248G>T
 gnomAD v4
19g.1047342G>ACA402952417ABCA7c.2031G>A (p.Trp677Ter)
n.2711G>A
c.1617G>A (p.Trp539Ter)
n.449G>A
c.1575G>A (p.Trp525Ter)
n.2249G>A
 gnomAD v4
19g.1047342G>CCA402952419ABCA7c.2031G>C (p.Trp677Cys)
n.2711G>C
c.1617G>C (p.Trp539Cys)
n.449G>C
c.1575G>C (p.Trp525Cys)
n.2249G>C
19g.1047342G>TCA402952421ABCA7c.2031G>T (p.Trp677Cys)
n.2711G>T
c.1617G>T (p.Trp539Cys)
n.449G>T
c.1575G>T (p.Trp525Cys)
n.2249G>T
 gnomAD v4
19g.1047343C>ACA504887650ABCA7c.2032C>A (p.Arg678=)
n.2712C>A
c.1618C>A (p.Arg540=)
n.450C>A
c.1576C>A (p.Arg526=)
n.2250C>A
 gnomAD v4 COSMIC
19g.1047343C=CA2317482892ABCA7c.2032C= (p.Arg678=)
n.2712C=
c.1618C= (p.Arg540=)
n.450C=
c.1576C= (p.Arg526=)
n.2250C=
19g.1047343C>GCA9033276ABCA7c.2032C>G (p.Arg678Gly)
n.2712C>G
c.1618C>G (p.Arg540Gly)
n.450C>G
c.1576C>G (p.Arg526Gly)
n.2250C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047343C>TCA402952424ABCA7c.2032C>T (p.Arg678Trp)
n.2712C>T
c.1618C>T (p.Arg540Trp)
n.450C>T
c.1576C>T (p.Arg526Trp)
n.2250C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047344G>ACA402952429ABCA7c.2033G>A (p.Arg678Gln)
n.2713G>A
c.1619G>A (p.Arg540Gln)
n.451G>A
c.1577G>A (p.Arg526Gln)
n.2251G>A
 gnomAD v4
19g.1047344G>CCA402952428ABCA7c.2033G>C (p.Arg678Pro)
n.2713G>C
c.1619G>C (p.Arg540Pro)
n.451G>C
c.1577G>C (p.Arg526Pro)
n.2251G>C
19g.1047344G>TCA402952426ABCA7c.2033G>T (p.Arg678Leu)
n.2713G>T
c.1619G>T (p.Arg540Leu)
n.451G>T
c.1577G>T (p.Arg526Leu)
n.2251G>T
 gnomAD v4
19g.1047346dupCA2317482893ABCA7c.2035dup (p.Asp679GlyfsTer?)
n.2715dup
c.1621dup (p.Asp541GlyfsTer?)
n.453dup
c.1579dup (p.Asp527GlyfsTer?)
n.2253dup
 dbSNP
19g.1047345G>ACA504887689ABCA7c.2034G>A (p.Arg678=)
n.2714G>A
c.1620G>A (p.Arg540=)
n.452G>A
c.1578G>A (p.Arg526=)
n.2252G>A
 dbSNP gnomAD v4
19g.1047345G>CCA504887688ABCA7c.2034G>C (p.Arg678=)
n.2714G>C
c.1620G>C (p.Arg540=)
n.452G>C
c.1578G>C (p.Arg526=)
n.2252G>C
19g.1047345G=CA2317482894ABCA7c.2034G= (p.Arg678=)
n.2714G=
c.1620G= (p.Arg540=)
n.452G=
c.1578G= (p.Arg526=)
n.2252G=
19g.1047345G>TCA504887687ABCA7c.2034G>T (p.Arg678=)
n.2714G>T
c.1620G>T (p.Arg540=)
n.452G>T
c.1578G>T (p.Arg526=)
n.2252G>T
 gnomAD v4
19g.1047346G>ACA402952431ABCA7c.2035G>A (p.Asp679Asn)
n.2715G>A
c.1621G>A (p.Asp541Asn)
n.453G>A
c.1579G>A (p.Asp527Asn)
n.2253G>A
 gnomAD v4
19g.1047346G>CCA402952436ABCA7c.2035G>C (p.Asp679His)
n.2715G>C
c.1621G>C (p.Asp541His)
n.453G>C
c.1579G>C (p.Asp527His)
n.2253G>C
19g.1047346G=CA2317482895ABCA7c.2035G= (p.Asp679=)
n.2715G=
c.1621G= (p.Asp541=)
n.453G=
c.1579G= (p.Asp527=)
n.2253G=
19g.1047346G>TCA402952434ABCA7c.2035G>T (p.Asp679Tyr)
n.2715G>T
c.1621G>T (p.Asp541Tyr)
n.453G>T
c.1579G>T (p.Asp527Tyr)
n.2253G>T
 dbSNP gnomAD v3 gnomAD v4
19g.1047347A=CA2317482896ABCA7c.2036A= (p.Asp679=)
n.2716A=
c.1622A= (p.Asp541=)
n.454A=
c.1580A= (p.Asp527=)
n.2254A=
19g.1047347A>CCA402952438ABCA7c.2036A>C (p.Asp679Ala)
n.2716A>C
c.1622A>C (p.Asp541Ala)
n.454A>C
c.1580A>C (p.Asp527Ala)
n.2254A>C
19g.1047347A>GCA402952439ABCA7c.2036A>G (p.Asp679Gly)
n.2716A>G
c.1622A>G (p.Asp541Gly)
n.454A>G
c.1580A>G (p.Asp527Gly)
n.2254A>G
 gnomAD v4
19g.1047347A>TCA402952440ABCA7c.2036A>T (p.Asp679Val)
n.2716A>T
c.1622A>T (p.Asp541Val)
n.454A>T
c.1580A>T (p.Asp527Val)
n.2254A>T
 dbSNP
19g.1047348C>ACA402952442ABCA7c.2037C>A (p.Asp679Glu)
n.2717C>A
c.1623C>A (p.Asp541Glu)
n.455C>A
c.1581C>A (p.Asp527Glu)
n.2255C>A
 gnomAD v4
19g.1047348C>GCA402952444ABCA7c.2037C>G (p.Asp679Glu)
n.2717C>G
c.1623C>G (p.Asp541Glu)
n.455C>G
c.1581C>G (p.Asp527Glu)
n.2255C>G
19g.1047348C>TCA504887690ABCA7c.2037C>T (p.Asp679=)
n.2717C>T
c.1623C>T (p.Asp541=)
n.455C>T
c.1581C>T (p.Asp527=)
n.2255C>T
 gnomAD v4
19g.1047348_1047358delinsCCGGCTGCCCGCA2317482897ABCA7c.2037_2047delinsCCGGCTGCCCG (p.Asp679=)
n.2717_2727delinsCCGGCTGCCCG
c.1623_1633delinsCCGGCTGCCCG (p.Asp541=)
n.455_465delinsCCGGCTGCCCG
c.1581_1591delinsCCGGCTGCCCG (p.Asp527=)
n.2255_2265delinsCCGGCTGCCCG
19g.1047349C>ACA504887691ABCA7c.2038C>A (p.Arg680=)
n.2718C>A
c.1624C>A (p.Arg542=)
n.456C>A
c.1582C>A (p.Arg528=)
n.2256C>A
 gnomAD v4
19g.1047349C=CA2317482898ABCA7c.2038C= (p.Arg680=)
n.2718C=
c.1624C= (p.Arg542=)
n.456C=
c.1582C= (p.Arg528=)
n.2256C=
19g.1047349C>GCA402952446ABCA7c.2038C>G (p.Arg680Gly)
n.2718C>G
c.1624C>G (p.Arg542Gly)
n.456C>G
c.1582C>G (p.Arg528Gly)
n.2256C>G
19g.1047349C>TCA303995676ABCA7c.2038C>T (p.Arg680Trp)
n.2718C>T
c.1624C>T (p.Arg542Trp)
n.456C>T
c.1582C>T (p.Arg528Trp)
n.2256C>T
 dbSNP gnomAD v4
19g.1047352_1047361delCA783177299ABCA7c.2041_2050del (p.Leu681ValfsTer?)
n.2721_2730del
c.1627_1636del (p.Leu543ValfsTer?)
n.459_468del
c.1585_1594del (p.Leu529ValfsTer?)
n.2259_2268del
 dbSNP gnomAD v4
19g.1047350G>ACA9033277ABCA7c.2039G>A (p.Arg680Gln)
n.2719G>A
c.1625G>A (p.Arg542Gln)
n.457G>A
c.1583G>A (p.Arg528Gln)
n.2257G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047350G>CCA402952450ABCA7c.2039G>C (p.Arg680Pro)
n.2719G>C
c.1625G>C (p.Arg542Pro)
n.457G>C
c.1583G>C (p.Arg528Pro)
n.2257G>C
 dbSNP
19g.1047350G=CA2317482899ABCA7c.2039G= (p.Arg680=)
n.2719G=
c.1625G= (p.Arg542=)
n.457G=
c.1583G= (p.Arg528=)
n.2257G=
19g.1047350G>TCA402952452ABCA7c.2039G>T (p.Arg680Leu)
n.2719G>T
c.1625G>T (p.Arg542Leu)
n.457G>T
c.1583G>T (p.Arg528Leu)
n.2257G>T
 gnomAD v4
19g.1047351G>ACA303995691ABCA7c.2040G>A (p.Arg680=)
n.2720G>A
c.1626G>A (p.Arg542=)
n.458G>A
c.1584G>A (p.Arg528=)
n.2258G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.1047351G>CCA504887692ABCA7c.2040G>C (p.Arg680=)
n.2720G>C
c.1626G>C (p.Arg542=)
n.458G>C
c.1584G>C (p.Arg528=)
n.2258G>C
19g.1047351G=CA2317482900ABCA7c.2040G= (p.Arg680=)
n.2720G=
c.1626G= (p.Arg542=)
n.458G=
c.1584G= (p.Arg528=)
n.2258G=
19g.1047351G>TCA504887693ABCA7c.2040G>T (p.Arg680=)
n.2720G>T
c.1626G>T (p.Arg542=)
n.458G>T
c.1584G>T (p.Arg528=)
n.2258G>T
 gnomAD v4
19g.1047352C>ACA402952455ABCA7c.2041C>A (p.Leu681Met)
n.2721C>A
c.1627C>A (p.Leu543Met)
n.459C>A
c.1585C>A (p.Leu529Met)
n.2259C>A
 gnomAD v4
19g.1047352C>GCA402952456ABCA7c.2041C>G (p.Leu681Val)
n.2721C>G
c.1627C>G (p.Leu543Val)
n.459C>G
c.1585C>G (p.Leu529Val)
n.2259C>G
19g.1047352C>TCA504887694ABCA7c.2041C>T (p.Leu681=)
n.2721C>T
c.1627C>T (p.Leu543=)
n.459C>T
c.1585C>T (p.Leu529=)
n.2259C>T
 gnomAD v4
19g.1047353T>ACA402952457ABCA7c.2042T>A (p.Leu681Gln)
n.2722T>A
c.1628T>A (p.Leu543Gln)
n.460T>A
c.1586T>A (p.Leu529Gln)
n.2260T>A
19g.1047353T>CCA402952460ABCA7c.2042T>C (p.Leu681Pro)
n.2722T>C
c.1628T>C (p.Leu543Pro)
n.460T>C
c.1586T>C (p.Leu529Pro)
n.2260T>C
 COSMIC
19g.1047353T>GCA402952458ABCA7c.2042T>G (p.Leu681Arg)
n.2722T>G
c.1628T>G (p.Leu543Arg)
n.460T>G
c.1586T>G (p.Leu529Arg)
n.2260T>G
19g.1047355_1047372delCA2588185562ABCA7c.2044_2061del (p.Pro682_Val687del)
n.2724_2741del
c.1630_1647del (p.Pro544_Val549del)
n.462_479del
c.1588_1605del (p.Pro530_Val535del)
n.2262_2279del
 gnomAD v4
19g.1047354G>ACA504887695ABCA7c.2043G>A (p.Leu681=)
n.2723G>A
c.1629G>A (p.Leu543=)
n.461G>A
c.1587G>A (p.Leu529=)
n.2261G>A
 gnomAD v4
19g.1047354G>CCA504887696ABCA7c.2043G>C (p.Leu681=)
n.2723G>C
c.1629G>C (p.Leu543=)
n.461G>C
c.1587G>C (p.Leu529=)
n.2261G>C
19g.1047354G=CA2317482901ABCA7c.2043G= (p.Leu681=)
n.2723G=
c.1629G= (p.Leu543=)
n.461G=
c.1587G= (p.Leu529=)
n.2261G=
19g.1047354G>TCA504887697ABCA7c.2043G>T (p.Leu681=)
n.2723G>T
c.1629G>T (p.Leu543=)
n.461G>T
c.1587G>T (p.Leu529=)
n.2261G>T
 gnomAD v4
19g.1047355C>ACA402952462ABCA7c.2044C>A (p.Pro682Thr)
n.2724C>A
c.1630C>A (p.Pro544Thr)
n.462C>A
c.1588C>A (p.Pro530Thr)
n.2262C>A
 gnomAD v4
19g.1047355C=CA2317482902ABCA7c.2044C= (p.Pro682=)
n.2724C=
c.1630C= (p.Pro544=)
n.462C=
c.1588C= (p.Pro530=)
n.2262C=
19g.1047355C>GCA402952464ABCA7c.2044C>G (p.Pro682Ala)
n.2724C>G
c.1630C>G (p.Pro544Ala)
n.462C>G
c.1588C>G (p.Pro530Ala)
n.2262C>G
19g.1047355C>TCA402952466ABCA7c.2044C>T (p.Pro682Ser)
n.2724C>T
c.1630C>T (p.Pro544Ser)
n.462C>T
c.1588C>T (p.Pro530Ser)
n.2262C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047357dupCA783177311ABCA7c.2046dup (p.Ala683ArgfsTer?)
n.2726dup
c.1632dup (p.Ala545ArgfsTer?)
n.464dup
c.1590dup (p.Ala531ArgfsTer?)
n.2264dup
 dbSNP gnomAD v3 gnomAD v4
19g.1047356C>ACA402952468ABCA7c.2045C>A (p.Pro682His)
n.2725C>A
c.1631C>A (p.Pro544His)
n.463C>A
c.1589C>A (p.Pro530His)
n.2263C>A
 gnomAD v4
19g.1047356C=CA2317482903ABCA7c.2045C= (p.Pro682=)
n.2725C=
c.1631C= (p.Pro544=)
n.463C=
c.1589C= (p.Pro530=)
n.2263C=
19g.1047356C>GCA402952469ABCA7c.2045C>G (p.Pro682Arg)
n.2725C>G
c.1631C>G (p.Pro544Arg)
n.463C>G
c.1589C>G (p.Pro530Arg)
n.2263C>G
19g.1047356C>TCA402952470ABCA7c.2045C>T (p.Pro682Leu)
n.2725C>T
c.1631C>T (p.Pro544Leu)
n.463C>T
c.1589C>T (p.Pro530Leu)
n.2263C>T
 dbSNP gnomAD v3 gnomAD v4
19g.1047357C>ACA504887698ABCA7c.2046C>A (p.Pro682=)
n.2726C>A
c.1632C>A (p.Pro544=)
n.464C>A
c.1590C>A (p.Pro530=)
n.2264C>A
 gnomAD v4
19g.1047357C=CA2317482904ABCA7c.2046C= (p.Pro682=)
n.2726C=
c.1632C= (p.Pro544=)
n.464C=
c.1590C= (p.Pro530=)
n.2264C=
19g.1047357C>GCA504887699ABCA7c.2046C>G (p.Pro682=)
n.2726C>G
c.1632C>G (p.Pro544=)
n.464C>G
c.1590C>G (p.Pro530=)
n.2264C>G
19g.1047357C>TCA9033278ABCA7c.2046C>T (p.Pro682=)
n.2726C>T
c.1632C>T (p.Pro544=)
n.464C>T
c.1590C>T (p.Pro530=)
n.2264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047358G>ACA9033279ABCA7c.2047G>A (p.Ala683Thr)
n.2727G>A
c.1633G>A (p.Ala545Thr)
n.465G>A
c.1591G>A (p.Ala531Thr)
n.2265G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047358G>CCA402952471ABCA7c.2047G>C (p.Ala683Pro)
n.2727G>C
c.1633G>C (p.Ala545Pro)
n.465G>C
c.1591G>C (p.Ala531Pro)
n.2265G>C
19g.1047358G=CA2317482905ABCA7c.2047G= (p.Ala683=)
n.2727G=
c.1633G= (p.Ala545=)
n.465G=
c.1591G= (p.Ala531=)
n.2265G=
19g.1047358G>TCA402952472ABCA7c.2047G>T (p.Ala683Ser)
n.2727G>T
c.1633G>T (p.Ala545Ser)
n.465G>T
c.1591G>T (p.Ala531Ser)
n.2265G>T
 gnomAD v4
19g.1047359C>ACA402952476ABCA7c.2048C>A (p.Ala683Glu)
n.2728C>A
c.1634C>A (p.Ala545Glu)
n.466C>A
c.1592C>A (p.Ala531Glu)
n.2266C>A
19g.1047359C=CA2317482906ABCA7c.2048C= (p.Ala683=)
n.2728C=
c.1634C= (p.Ala545=)
n.466C=
c.1592C= (p.Ala531=)
n.2266C=
19g.1047359C>GCA402952478ABCA7c.2048C>G (p.Ala683Gly)
n.2728C>G
c.1634C>G (p.Ala545Gly)
n.466C>G
c.1592C>G (p.Ala531Gly)
n.2266C>G
19g.1047359C>TCA402952474ABCA7c.2048C>T (p.Ala683Val)
n.2728C>T
c.1634C>T (p.Ala545Val)
n.466C>T
c.1592C>T (p.Ala531Val)
n.2266C>T
 dbSNP gnomAD v4 COSMIC
19g.1047360G>ACA504887700ABCA7c.2049G>A (p.Ala683=)
n.2729G>A
c.1635G>A (p.Ala545=)
n.467G>A
c.1593G>A (p.Ala531=)
n.2267G>A
 dbSNP gnomAD v3 gnomAD v4
19g.1047360G>CCA504887701ABCA7c.2049G>C (p.Ala683=)
n.2729G>C
c.1635G>C (p.Ala545=)
n.467G>C
c.1593G>C (p.Ala531=)
n.2267G>C
19g.1047360G=CA2317482907ABCA7c.2049G= (p.Ala683=)
n.2729G=
c.1635G= (p.Ala545=)
n.467G=
c.1593G= (p.Ala531=)
n.2267G=
19g.1047360G>TCA504887702ABCA7c.2049G>T (p.Ala683=)
n.2729G>T
c.1635G>T (p.Ala545=)
n.467G>T
c.1593G>T (p.Ala531=)
n.2267G>T
 gnomAD v4
19g.1047361G>ACA402952481ABCA7c.2050G>A (p.Gly684Ser)
n.2730G>A
c.1636G>A (p.Gly546Ser)
n.468G>A
c.1594G>A (p.Gly532Ser)
n.2268G>A
 COSMIC
19g.1047361G>CCA402952485ABCA7c.2050G>C (p.Gly684Arg)
n.2730G>C
c.1636G>C (p.Gly546Arg)
n.468G>C
c.1594G>C (p.Gly532Arg)
n.2268G>C
19g.1047361G>TCA402952489ABCA7c.2050G>T (p.Gly684Cys)
n.2730G>T
c.1636G>T (p.Gly546Cys)
n.468G>T
c.1594G>T (p.Gly532Cys)
n.2268G>T
 gnomAD v4
19g.1047361_1047369delinsGGTGGCCGCCA2317482908ABCA7c.2050_2058delinsGGTGGCCGC (p.Gly684=)
n.2730_2738delinsGGTGGCCGC
c.1636_1644delinsGGTGGCCGC (p.Gly546=)
n.468_476delinsGGTGGCCGC
c.1594_1602delinsGGTGGCCGC (p.Gly532=)
n.2268_2276delinsGGTGGCCGC
19g.1047362G>ACA402952495ABCA7c.2051G>A (p.Gly684Asp)
n.2731G>A
c.1637G>A (p.Gly546Asp)
n.469G>A
c.1595G>A (p.Gly532Asp)
n.2269G>A
19g.1047362G>CCA402952499ABCA7c.2051G>C (p.Gly684Ala)
n.2731G>C
c.1637G>C (p.Gly546Ala)
n.469G>C
c.1595G>C (p.Gly532Ala)
n.2269G>C
19g.1047362G>TCA402952501ABCA7c.2051G>T (p.Gly684Val)
n.2731G>T
c.1637G>T (p.Gly546Val)
n.469G>T
c.1595G>T (p.Gly532Val)
n.2269G>T
 gnomAD v4
19g.1047371_1047378dupCA9033280ABCA7c.2060_2067dup (p.Ser690TrpfsTer?)
n.2740_2747dup
c.1646_1653dup (p.Ser552TrpfsTer?)
n.478_485dup
c.1604_1611dup (p.Ser538TrpfsTer?)
n.2278_2285dup
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047371_1047378delCA631297448ABCA7c.2060_2067del (p.Val687GlufsTer?)
n.2740_2747del
c.1646_1653del (p.Val549GlufsTer?)
n.478_485del
c.1604_1611del (p.Val535GlufsTer?)
n.2278_2285del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047363T>ACA504887703ABCA7c.2052T>A (p.Gly684=)
n.2732T>A
c.1638T>A (p.Gly546=)
n.470T>A
c.1596T>A (p.Gly532=)
n.2270T>A
19g.1047363T>CCA504887704ABCA7c.2052T>C (p.Gly684=)
n.2732T>C
c.1638T>C (p.Gly546=)
n.470T>C
c.1596T>C (p.Gly532=)
n.2270T>C
19g.1047363T>GCA504887705ABCA7c.2052T>G (p.Gly684=)
n.2732T>G
c.1638T>G (p.Gly546=)
n.470T>G
c.1596T>G (p.Gly532=)
n.2270T>G
19g.1047364G>ACA402952504ABCA7c.2053G>A (p.Gly685Ser)
n.2733G>A
c.1639G>A (p.Gly547Ser)
n.471G>A
c.1597G>A (p.Gly533Ser)
n.2271G>A
 gnomAD v4
19g.1047364G>CCA402952506ABCA7c.2053G>C (p.Gly685Arg)
n.2733G>C
c.1639G>C (p.Gly547Arg)
n.471G>C
c.1597G>C (p.Gly533Arg)
n.2271G>C
19g.1047364G>TCA402952507ABCA7c.2053G>T (p.Gly685Cys)
n.2733G>T
c.1639G>T (p.Gly547Cys)
n.471G>T
c.1597G>T (p.Gly533Cys)
n.2271G>T
 gnomAD v4
19g.1047365G>ACA402952510ABCA7c.2054G>A (p.Gly685Asp)
n.2734G>A
c.1640G>A (p.Gly547Asp)
n.472G>A
c.1598G>A (p.Gly533Asp)
n.2272G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.1047365G>CCA402952512ABCA7c.2054G>C (p.Gly685Ala)
n.2734G>C
c.1640G>C (p.Gly547Ala)
n.472G>C
c.1598G>C (p.Gly533Ala)
n.2272G>C
 gnomAD v4
19g.1047365G=CA2317482909ABCA7c.2054G= (p.Gly685=)
n.2734G=
c.1640G= (p.Gly547=)
n.472G=
c.1598G= (p.Gly533=)
n.2272G=
19g.1047365G>TCA402952515ABCA7c.2054G>T (p.Gly685Val)
n.2734G>T
c.1640G>T (p.Gly547Val)
n.472G>T
c.1598G>T (p.Gly533Val)
n.2272G>T
 gnomAD v4
19g.1047366C>ACA504887706ABCA7c.2055C>A (p.Gly685=)
n.2735C>A
c.1641C>A (p.Gly547=)
n.473C>A
c.1599C>A (p.Gly533=)
n.2273C>A
19g.1047366C>GCA504887707ABCA7c.2055C>G (p.Gly685=)
n.2735C>G
c.1641C>G (p.Gly547=)
n.473C>G
c.1599C>G (p.Gly533=)
n.2273C>G
 dbSNP
19g.1047366C>TCA504887708ABCA7c.2055C>T (p.Gly685=)
n.2735C>T
c.1641C>T (p.Gly547=)
n.473C>T
c.1599C>T (p.Gly533=)
n.2273C>T
 gnomAD v4

Number of alleles fetched