Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.1047210A>CCA504887456ABCA7c.1899A>C (p.Ala633=)
n.2579A>C
c.1485A>C (p.Ala495=)
n.317A>C
c.1443A>C (p.Ala481=)
n.2117A>C
 gnomAD v4
19g.1047210A>GCA504887459ABCA7c.1899A>G (p.Ala633=)
n.2579A>G
c.1485A>G (p.Ala495=)
n.317A>G
c.1443A>G (p.Ala481=)
n.2117A>G
 gnomAD v3 gnomAD v4
19g.1047210A>TCA504887458ABCA7c.1899A>T (p.Ala633=)
n.2579A>T
c.1485A>T (p.Ala495=)
n.317A>T
c.1443A>T (p.Ala481=)
n.2117A>T
19g.1047211G>ACA402952067ABCA7c.1900G>A (p.Ala634Thr)
n.2580G>A
c.1486G>A (p.Ala496Thr)
n.318G>A
c.1444G>A (p.Ala482Thr)
n.2118G>A
 gnomAD v4
19g.1047211G>CCA402952068ABCA7c.1900G>C (p.Ala634Pro)
n.2580G>C
c.1486G>C (p.Ala496Pro)
n.318G>C
c.1444G>C (p.Ala482Pro)
n.2118G>C
19g.1047211G>TCA402952069ABCA7c.1900G>T (p.Ala634Ser)
n.2580G>T
c.1486G>T (p.Ala496Ser)
n.318G>T
c.1444G>T (p.Ala482Ser)
n.2118G>T
 gnomAD v4
19g.1047212C>ACA402952070ABCA7c.1901C>A (p.Ala634Asp)
n.2581C>A
c.1487C>A (p.Ala496Asp)
n.319C>A
c.1445C>A (p.Ala482Asp)
n.2119C>A
 gnomAD v4
19g.1047212C=CA2317482819ABCA7c.1901C= (p.Ala634=)
n.2581C=
c.1487C= (p.Ala496=)
n.319C=
c.1445C= (p.Ala482=)
n.2119C=
19g.1047212C>GCA402952071ABCA7c.1901C>G (p.Ala634Gly)
n.2581C>G
c.1487C>G (p.Ala496Gly)
n.319C>G
c.1445C>G (p.Ala482Gly)
n.2119C>G
 gnomAD v4
19g.1047212C>TCA9033236ABCA7c.1901C>T (p.Ala634Val)
n.2581C>T
c.1487C>T (p.Ala496Val)
n.319C>T
c.1445C>T (p.Ala482Val)
n.2119C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047213C>ACA504887463ABCA7c.1902C>A (p.Ala634=)
n.2582C>A
c.1488C>A (p.Ala496=)
n.320C>A
c.1446C>A (p.Ala482=)
n.2120C>A
19g.1047213C=CA2317482820ABCA7c.1902C= (p.Ala634=)
n.2582C=
c.1488C= (p.Ala496=)
n.320C=
c.1446C= (p.Ala482=)
n.2120C=
19g.1047213C>GCA504887464ABCA7c.1902C>G (p.Ala634=)
n.2582C>G
c.1488C>G (p.Ala496=)
n.320C>G
c.1446C>G (p.Ala482=)
n.2120C>G
19g.1047213C>TCA9033237ABCA7c.1902C>T (p.Ala634=)
n.2582C>T
c.1488C>T (p.Ala496=)
n.320C>T
c.1446C>T (p.Ala482=)
n.2120C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047214T>ACA402952072ABCA7c.1903T>A (p.Phe635Ile)
n.2583T>A
c.1489T>A (p.Phe497Ile)
n.321T>A
c.1447T>A (p.Phe483Ile)
n.2121T>A
19g.1047214T>CCA402952073ABCA7c.1903T>C (p.Phe635Leu)
n.2583T>C
c.1489T>C (p.Phe497Leu)
n.321T>C
c.1447T>C (p.Phe483Leu)
n.2121T>C
19g.1047214T>GCA402952074ABCA7c.1903T>G (p.Phe635Val)
n.2583T>G
c.1489T>G (p.Phe497Val)
n.321T>G
c.1447T>G (p.Phe483Val)
n.2121T>G
19g.1047214_1047220delinsTTCGCGGCA2317482821ABCA7c.1903_1909delinsTTCGCGG (p.Phe635=)
n.2583_2589delinsTTCGCGG
c.1489_1495delinsTTCGCGG (p.Phe497=)
n.321_327delinsTTCGCGG
c.1447_1453delinsTTCGCGG (p.Phe483=)
n.2121_2127delinsTTCGCGG
19g.1047215T>ACA402952077ABCA7c.1904T>A (p.Phe635Tyr)
n.2584T>A
c.1490T>A (p.Phe497Tyr)
n.322T>A
c.1448T>A (p.Phe483Tyr)
n.2122T>A
19g.1047215T>CCA402952075ABCA7c.1904T>C (p.Phe635Ser)
n.2584T>C
c.1490T>C (p.Phe497Ser)
n.322T>C
c.1448T>C (p.Phe483Ser)
n.2122T>C
19g.1047215T>GCA402952076ABCA7c.1904T>G (p.Phe635Cys)
n.2584T>G
c.1490T>G (p.Phe497Cys)
n.322T>G
c.1448T>G (p.Phe483Cys)
n.2122T>G
19g.1047216_1047221delCA631297447ABCA7c.1905_1910del (p.Phe635_Val637delinsLeu)
n.2585_2590del
c.1491_1496del (p.Phe497_Val499delinsLeu)
n.323_328del
c.1449_1454del (p.Phe483_Val485delinsLeu)
n.2123_2128del
 dbSNP gnomAD v2 gnomAD v4
19g.1047216C>ACA402952078ABCA7c.1905C>A (p.Phe635Leu)
n.2585C>A
c.1491C>A (p.Phe497Leu)
n.323C>A
c.1449C>A (p.Phe483Leu)
n.2123C>A
 gnomAD v4
19g.1047216C=CA2317482822ABCA7c.1905C= (p.Phe635=)
n.2585C=
c.1491C= (p.Phe497=)
n.323C=
c.1449C= (p.Phe483=)
n.2123C=
19g.1047216C>GCA9033238ABCA7c.1905C>G (p.Phe635Leu)
n.2585C>G
c.1491C>G (p.Phe497Leu)
n.323C>G
c.1449C>G (p.Phe483Leu)
n.2123C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047216C>TCA504887469ABCA7c.1905C>T (p.Phe635=)
n.2585C>T
c.1491C>T (p.Phe497=)
n.323C>T
c.1449C>T (p.Phe483=)
n.2123C>T
 gnomAD v4
19g.1047217G>ACA9033239ABCA7c.1906G>A (p.Ala636Thr)
n.2586G>A
c.1492G>A (p.Ala498Thr)
n.324G>A
c.1450G>A (p.Ala484Thr)
n.2124G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047217G>CCA402952079ABCA7c.1906G>C (p.Ala636Pro)
n.2586G>C
c.1492G>C (p.Ala498Pro)
n.324G>C
c.1450G>C (p.Ala484Pro)
n.2124G>C
19g.1047217G=CA2317482823ABCA7c.1906G= (p.Ala636=)
n.2586G=
c.1492G= (p.Ala498=)
n.324G=
c.1450G= (p.Ala484=)
n.2124G=
19g.1047217G>TCA402952080ABCA7c.1906G>T (p.Ala636Ser)
n.2586G>T
c.1492G>T (p.Ala498Ser)
n.324G>T
c.1450G>T (p.Ala484Ser)
n.2124G>T
 gnomAD v4
19g.1047217_1047226delinsGCGGTGGCCACA2317482824ABCA7c.1906_1915delinsGCGGTGGCCA (p.Ala636=)
n.2586_2595delinsGCGGTGGCCA
c.1492_1501delinsGCGGTGGCCA (p.Ala498=)
n.324_333delinsGCGGTGGCCA
c.1450_1459delinsGCGGTGGCCA (p.Ala484=)
n.2124_2133delinsGCGGTGGCCA
19g.1047218C>ACA402952081ABCA7c.1907C>A (p.Ala636Glu)
n.2587C>A
c.1493C>A (p.Ala498Glu)
n.325C>A
c.1451C>A (p.Ala484Glu)
n.2125C>A
19g.1047218C=CA2317482826ABCA7c.1907C= (p.Ala636=)
n.2587C=
c.1493C= (p.Ala498=)
n.325C=
c.1451C= (p.Ala484=)
n.2125C=
19g.1047218C>GCA402952082ABCA7c.1907C>G (p.Ala636Gly)
n.2587C>G
c.1493C>G (p.Ala498Gly)
n.325C>G
c.1451C>G (p.Ala484Gly)
n.2125C>G
19g.1047218C>TCA9033240ABCA7c.1907C>T (p.Ala636Val)
n.2587C>T
c.1493C>T (p.Ala498Val)
n.325C>T
c.1451C>T (p.Ala484Val)
n.2125C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047223_1047231delCA2317482825ABCA7c.1912_1920del (p.Ala638_Val640del)
n.2592_2600del
c.1498_1506del (p.Ala500_Val502del)
n.330_338del
c.1456_1464del (p.Ala486_Val488del)
n.2130_2138del
 dbSNP
19g.1047219G>ACA9033241ABCA7c.1908G>A (p.Ala636=)
n.2588G>A
c.1494G>A (p.Ala498=)
n.326G>A
c.1452G>A (p.Ala484=)
n.2126G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.1047219G>CCA504887473ABCA7c.1908G>C (p.Ala636=)
n.2588G>C
c.1494G>C (p.Ala498=)
n.326G>C
c.1452G>C (p.Ala484=)
n.2126G>C
 gnomAD v4
19g.1047219G=CA2317482827ABCA7c.1908G= (p.Ala636=)
n.2588G=
c.1494G= (p.Ala498=)
n.326G=
c.1452G= (p.Ala484=)
n.2126G=
19g.1047219G>TCA504887475ABCA7c.1908G>T (p.Ala636=)
n.2588G>T
c.1494G>T (p.Ala498=)
n.326G>T
c.1452G>T (p.Ala484=)
n.2126G>T
 gnomAD v4
19g.1047220G>ACA402952083ABCA7c.1909G>A (p.Val637Met)
n.2589G>A
c.1495G>A (p.Val499Met)
n.327G>A
c.1453G>A (p.Val485Met)
n.2127G>A
 gnomAD v4
19g.1047220G>CCA402952084ABCA7c.1909G>C (p.Val637Leu)
n.2589G>C
c.1495G>C (p.Val499Leu)
n.327G>C
c.1453G>C (p.Val485Leu)
n.2127G>C
19g.1047220G>TCA402952085ABCA7c.1909G>T (p.Val637Leu)
n.2589G>T
c.1495G>T (p.Val499Leu)
n.327G>T
c.1453G>T (p.Val485Leu)
n.2127G>T
 ClinVar gnomAD v4
19g.1047221T>ACA402952086ABCA7c.1910T>A (p.Val637Glu)
n.2590T>A
c.1496T>A (p.Val499Glu)
n.328T>A
c.1454T>A (p.Val485Glu)
n.2128T>A
19g.1047221T>CCA402952088ABCA7c.1910T>C (p.Val637Ala)
n.2590T>C
c.1496T>C (p.Val499Ala)
n.328T>C
c.1454T>C (p.Val485Ala)
n.2128T>C
19g.1047221T>GCA402952087ABCA7c.1910T>G (p.Val637Gly)
n.2590T>G
c.1496T>G (p.Val499Gly)
n.328T>G
c.1454T>G (p.Val485Gly)
n.2128T>G
19g.1047222G>ACA504887478ABCA7c.1911G>A (p.Val637=)
n.2591G>A
c.1497G>A (p.Val499=)
n.329G>A
c.1455G>A (p.Val485=)
n.2129G>A
 gnomAD v4
19g.1047222G>CCA504887480ABCA7c.1911G>C (p.Val637=)
n.2591G>C
c.1497G>C (p.Val499=)
n.329G>C
c.1455G>C (p.Val485=)
n.2129G>C
19g.1047222G>TCA504887479ABCA7c.1911G>T (p.Val637=)
n.2591G>T
c.1497G>T (p.Val499=)
n.329G>T
c.1455G>T (p.Val485=)
n.2129G>T
19g.1047223G>ACA402952089ABCA7c.1912G>A (p.Ala638Thr)
n.2592G>A
c.1498G>A (p.Ala500Thr)
n.330G>A
c.1456G>A (p.Ala486Thr)
n.2130G>A
 gnomAD v4
19g.1047223G>CCA402952090ABCA7c.1912G>C (p.Ala638Pro)
n.2592G>C
c.1498G>C (p.Ala500Pro)
n.330G>C
c.1456G>C (p.Ala486Pro)
n.2130G>C
19g.1047223G=CA2317482828ABCA7c.1912G= (p.Ala638=)
n.2592G=
c.1498G= (p.Ala500=)
n.330G=
c.1456G= (p.Ala486=)
n.2130G=
19g.1047223G>TCA402952091ABCA7c.1912G>T (p.Ala638Ser)
n.2592G>T
c.1498G>T (p.Ala500Ser)
n.330G>T
c.1456G>T (p.Ala486Ser)
n.2130G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047224C>ACA402952092ABCA7c.1913C>A (p.Ala638Asp)
n.2593C>A
c.1499C>A (p.Ala500Asp)
n.331C>A
c.1457C>A (p.Ala486Asp)
n.2131C>A
19g.1047224C>GCA402952093ABCA7c.1913C>G (p.Ala638Gly)
n.2593C>G
c.1499C>G (p.Ala500Gly)
n.331C>G
c.1457C>G (p.Ala486Gly)
n.2131C>G
19g.1047224C>TCA402952094ABCA7c.1913C>T (p.Ala638Val)
n.2593C>T
c.1499C>T (p.Ala500Val)
n.331C>T
c.1457C>T (p.Ala486Val)
n.2131C>T
 gnomAD v4
19g.1047226_1047234delCA2588185557ABCA7c.1915_1923del (p.Thr639_Thr641del)
n.2595_2603del
c.1501_1509del (p.Thr501_Thr503del)
n.333_341del
c.1459_1467del (p.Thr487_Thr489del)
n.2133_2141del
 gnomAD v4
19g.1047225C>ACA504887485ABCA7c.1914C>A (p.Ala638=)
n.2594C>A
c.1500C>A (p.Ala500=)
n.332C>A
c.1458C>A (p.Ala486=)
n.2132C>A
19g.1047225C>GCA504887487ABCA7c.1914C>G (p.Ala638=)
n.2594C>G
c.1500C>G (p.Ala500=)
n.332C>G
c.1458C>G (p.Ala486=)
n.2132C>G
19g.1047225C>TCA504887489ABCA7c.1914C>T (p.Ala638=)
n.2594C>T
c.1500C>T (p.Ala500=)
n.332C>T
c.1458C>T (p.Ala486=)
n.2132C>T
19g.1047226A>CCA402952095ABCA7c.1915A>C (p.Thr639Pro)
n.2595A>C
c.1501A>C (p.Thr501Pro)
n.333A>C
c.1459A>C (p.Thr487Pro)
n.2133A>C
 gnomAD v4
19g.1047226A>GCA402952096ABCA7c.1915A>G (p.Thr639Ala)
n.2595A>G
c.1501A>G (p.Thr501Ala)
n.333A>G
c.1459A>G (p.Thr487Ala)
n.2133A>G
19g.1047226A>TCA402952097ABCA7c.1915A>T (p.Thr639Ser)
n.2595A>T
c.1501A>T (p.Thr501Ser)
n.333A>T
c.1459A>T (p.Thr487Ser)
n.2133A>T
19g.1047227C>ACA303995471ABCA7c.1916C>A (p.Thr639Lys)
n.2596C>A
c.1502C>A (p.Thr501Lys)
n.334C>A
c.1460C>A (p.Thr487Lys)
n.2134C>A
 dbSNP
19g.1047227C=CA2317482829ABCA7c.1916C= (p.Thr639=)
n.2596C=
c.1502C= (p.Thr501=)
n.334C=
c.1460C= (p.Thr487=)
n.2134C=
19g.1047227C>GCA402952098ABCA7c.1916C>G (p.Thr639Arg)
n.2596C>G
c.1502C>G (p.Thr501Arg)
n.334C>G
c.1460C>G (p.Thr487Arg)
n.2134C>G
19g.1047227C>TCA402952099ABCA7c.1916C>T (p.Thr639Met)
n.2596C>T
c.1502C>T (p.Thr501Met)
n.334C>T
c.1460C>T (p.Thr487Met)
n.2134C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047228G>ACA504887491ABCA7c.1917G>A (p.Thr639=)
n.2597G>A
c.1503G>A (p.Thr501=)
n.335G>A
c.1461G>A (p.Thr487=)
n.2135G>A
 dbSNP gnomAD v4
19g.1047228G>CCA504887492ABCA7c.1917G>C (p.Thr639=)
n.2597G>C
c.1503G>C (p.Thr501=)
n.335G>C
c.1461G>C (p.Thr487=)
n.2135G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.1047228G=CA2317482830ABCA7c.1917G= (p.Thr639=)
n.2597G=
c.1503G= (p.Thr501=)
n.335G=
c.1461G= (p.Thr487=)
n.2135G=
19g.1047228G>TCA9033242ABCA7c.1917G>T (p.Thr639=)
n.2597G>T
c.1503G>T (p.Thr501=)
n.335G>T
c.1461G>T (p.Thr487=)
n.2135G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047229G>ACA402952100ABCA7c.1918G>A (p.Val640Met)
n.2598G>A
c.1504G>A (p.Val502Met)
n.336G>A
c.1462G>A (p.Val488Met)
n.2136G>A
19g.1047229G>CCA402952101ABCA7c.1918G>C (p.Val640Leu)
n.2598G>C
c.1504G>C (p.Val502Leu)
n.336G>C
c.1462G>C (p.Val488Leu)
n.2136G>C
19g.1047229G>TCA402952102ABCA7c.1918G>T (p.Val640Leu)
n.2598G>T
c.1504G>T (p.Val502Leu)
n.336G>T
c.1462G>T (p.Val488Leu)
n.2136G>T
 gnomAD v4
19g.1047230T>ACA402952103ABCA7c.1919T>A (p.Val640Glu)
n.2599T>A
c.1505T>A (p.Val502Glu)
n.337T>A
c.1463T>A (p.Val488Glu)
n.2137T>A
19g.1047230T>CCA402952104ABCA7c.1919T>C (p.Val640Ala)
n.2599T>C
c.1505T>C (p.Val502Ala)
n.337T>C
c.1463T>C (p.Val488Ala)
n.2137T>C
 gnomAD v4
19g.1047230T>GCA402952105ABCA7c.1919T>G (p.Val640Gly)
n.2599T>G
c.1505T>G (p.Val502Gly)
n.337T>G
c.1463T>G (p.Val488Gly)
n.2137T>G
19g.1047231G>ACA504887496ABCA7c.1920G>A (p.Val640=)
n.2600G>A
c.1506G>A (p.Val502=)
n.338G>A
c.1464G>A (p.Val488=)
n.2138G>A
 dbSNP gnomAD v4
19g.1047231G>CCA504887497ABCA7c.1920G>C (p.Val640=)
n.2600G>C
c.1506G>C (p.Val502=)
n.338G>C
c.1464G>C (p.Val488=)
n.2138G>C
19g.1047231G=CA2317482831ABCA7c.1920G= (p.Val640=)
n.2600G=
c.1506G= (p.Val502=)
n.338G=
c.1464G= (p.Val488=)
n.2138G=
19g.1047231G>TCA504887499ABCA7c.1920G>T (p.Val640=)
n.2600G>T
c.1506G>T (p.Val502=)
n.338G>T
c.1464G>T (p.Val488=)
n.2138G>T
 gnomAD v4
19g.1047232A=CA2317482832ABCA7c.1921A= (p.Thr641=)
n.2601A=
c.1507A= (p.Thr503=)
n.339A=
c.1465A= (p.Thr489=)
n.2139A=
19g.1047232A>CCA402952106ABCA7c.1921A>C (p.Thr641Pro)
n.2601A>C
c.1507A>C (p.Thr503Pro)
n.339A>C
c.1465A>C (p.Thr489Pro)
n.2139A>C
19g.1047232A>GCA402952107ABCA7c.1921A>G (p.Thr641Ala)
n.2601A>G
c.1507A>G (p.Thr503Ala)
n.339A>G
c.1465A>G (p.Thr489Ala)
n.2139A>G
19g.1047232A>TCA402952108ABCA7c.1921A>T (p.Thr641Ser)
n.2601A>T
c.1507A>T (p.Thr503Ser)
n.339A>T
c.1465A>T (p.Thr489Ser)
n.2139A>T
 dbSNP gnomAD v4
19g.1047233C>ACA402952109ABCA7c.1922C>A (p.Thr641Asn)
n.2602C>A
c.1508C>A (p.Thr503Asn)
n.340C>A
c.1466C>A (p.Thr489Asn)
n.2140C>A
19g.1047233C=CA2317482833ABCA7c.1922C= (p.Thr641=)
n.2602C=
c.1508C= (p.Thr503=)
n.340C=
c.1466C= (p.Thr489=)
n.2140C=
19g.1047233C>GCA402952110ABCA7c.1922C>G (p.Thr641Ser)
n.2602C>G
c.1508C>G (p.Thr503Ser)
n.340C>G
c.1466C>G (p.Thr489Ser)
n.2140C>G
19g.1047233C>TCA303995495ABCA7c.1922C>T (p.Thr641Ile)
n.2602C>T
c.1508C>T (p.Thr503Ile)
n.340C>T
c.1466C>T (p.Thr489Ile)
n.2140C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047234C>ACA504887503ABCA7c.1923C>A (p.Thr641=)
n.2603C>A
c.1509C>A (p.Thr503=)
n.341C>A
c.1467C>A (p.Thr489=)
n.2141C>A
 gnomAD v4
19g.1047234C=CA2317482834ABCA7c.1923C= (p.Thr641=)
n.2603C=
c.1509C= (p.Thr503=)
n.341C=
c.1467C= (p.Thr489=)
n.2141C=
19g.1047234C>GCA504887504ABCA7c.1923C>G (p.Thr641=)
n.2603C>G
c.1509C>G (p.Thr503=)
n.341C>G
c.1467C>G (p.Thr489=)
n.2141C>G
19g.1047234C>TCA504887505ABCA7c.1923C>T (p.Thr641=)
n.2603C>T
c.1509C>T (p.Thr503=)
n.341C>T
c.1467C>T (p.Thr489=)
n.2141C>T
 dbSNP gnomAD v2 gnomAD v4
19g.1047235C>ACA402952112ABCA7c.1924C>A (p.Gln642Lys)
n.2604C>A
c.1510C>A (p.Gln504Lys)
n.342C>A
c.1468C>A (p.Gln490Lys)
n.2142C>A
19g.1047235C>GCA402952113ABCA7c.1924C>G (p.Gln642Glu)
n.2604C>G
c.1510C>G (p.Gln504Glu)
n.342C>G
c.1468C>G (p.Gln490Glu)
n.2142C>G
19g.1047235C>TCA402952111ABCA7c.1924C>T (p.Gln642Ter)
n.2604C>T
c.1510C>T (p.Gln504Ter)
n.342C>T
c.1468C>T (p.Gln490Ter)
n.2142C>T
19g.1047236A>CCA402952114ABCA7c.1925A>C (p.Gln642Pro)
n.2605A>C
c.1511A>C (p.Gln504Pro)
n.343A>C
c.1469A>C (p.Gln490Pro)
n.2143A>C
19g.1047236A>GCA402952115ABCA7c.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
19g.1047236A>TCA402952116ABCA7c.1925A>T (p.Gln642Leu)
n.2605A>T
c.1511A>T (p.Gln504Leu)
n.343A>T
c.1469A>T (p.Gln490Leu)
n.2143A>T
19g.1047237G>ACA504887508ABCA7c.1926G>A (p.Gln642=)
n.2606G>A
c.1512G>A (p.Gln504=)
n.344G>A
c.1470G>A (p.Gln490=)
n.2144G>A
 dbSNP
19g.1047237G>CCA402952117ABCA7c.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
19g.1047237G>TCA402952118ABCA7c.1926G>T (p.Gln642His)
n.2606G>T
c.1512G>T (p.Gln504His)
n.344G>T
c.1470G>T (p.Gln490His)
n.2144G>T
19g.1047238A>CCA402952119ABCA7c.1927A>C (p.Ser643Arg)
n.2607A>C
c.1513A>C (p.Ser505Arg)
n.345A>C
c.1471A>C (p.Ser491Arg)
n.2145A>C
19g.1047238A>GCA402952120ABCA7c.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
19g.1047238A>TCA402952121ABCA7c.1927A>T (p.Ser643Cys)
n.2607A>T
c.1513A>T (p.Ser505Cys)
n.345A>T
c.1471A>T (p.Ser491Cys)
n.2145A>T
19g.1047239G>ACA402952122ABCA7c.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
19g.1047239G>CCA402952123ABCA7c.1928G>C (p.Ser643Thr)
n.2608G>C
c.1514G>C (p.Ser505Thr)
n.346G>C
c.1472G>C (p.Ser491Thr)
n.2146G>C
19g.1047239G=CA2317482835ABCA7c.1928G= (p.Ser643=)
n.2608G=
c.1514G= (p.Ser505=)
n.346G=
c.1472G= (p.Ser491=)
n.2146G=
19g.1047239G>TCA402952124ABCA7c.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
19g.1047240C>ACA402952125ABCA7c.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
19g.1047240C=CA2317482836ABCA7c.1929C= (p.Ser643=)
n.2609C=
c.1515C= (p.Ser505=)
n.347C=
c.1473C= (p.Ser491=)
n.2147C=
19g.1047240C>GCA402952126ABCA7c.1929C>G (p.Ser643Arg)
n.2609C>G
c.1515C>G (p.Ser505Arg)
n.347C>G
c.1473C>G (p.Ser491Arg)
n.2147C>G
19g.1047240C>TCA504887511ABCA7c.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
19g.1047241T>ACA402952129ABCA7c.1930T>A (p.Phe644Ile)
n.2610T>A
c.1516T>A (p.Phe506Ile)
n.348T>A
c.1474T>A (p.Phe492Ile)
n.2148T>A
 dbSNP
19g.1047241T>CCA402952128ABCA7c.1930T>C (p.Phe644Leu)
n.2610T>C
c.1516T>C (p.Phe506Leu)
n.348T>C
c.1474T>C (p.Phe492Leu)
n.2148T>C
19g.1047241T>GCA402952127ABCA7c.1930T>G (p.Phe644Val)
n.2610T>G
c.1516T>G (p.Phe506Val)
n.348T>G
c.1474T>G (p.Phe492Val)
n.2148T>G
19g.1047241T=CA2317482837ABCA7c.1930T= (p.Phe644=)
n.2610T=
c.1516T= (p.Phe506=)
n.348T=
c.1474T= (p.Phe492=)
n.2148T=
19g.1047242T>ACA402952130ABCA7c.1931T>A (p.Phe644Tyr)
n.2611T>A
c.1517T>A (p.Phe506Tyr)
n.349T>A
c.1475T>A (p.Phe492Tyr)
n.2149T>A
19g.1047242T>CCA402952131ABCA7c.1931T>C (p.Phe644Ser)
n.2611T>C
c.1517T>C (p.Phe506Ser)
n.349T>C
c.1475T>C (p.Phe492Ser)
n.2149T>C
19g.1047242T>GCA402952132ABCA7c.1931T>G (p.Phe644Cys)
n.2611T>G
c.1517T>G (p.Phe506Cys)
n.349T>G
c.1475T>G (p.Phe492Cys)
n.2149T>G
19g.1047243C>ACA402952133ABCA7c.1932C>A (p.Phe644Leu)
n.2612C>A
c.1518C>A (p.Phe506Leu)
n.350C>A
c.1476C>A (p.Phe492Leu)
n.2150C>A
19g.1047243C=CA2317482838ABCA7c.1932C= (p.Phe644=)
n.2612C=
c.1518C= (p.Phe506=)
n.350C=
c.1476C= (p.Phe492=)
n.2150C=
19g.1047243C>GCA402952134ABCA7c.1932C>G (p.Phe644Leu)
n.2612C>G
c.1518C>G (p.Phe506Leu)
n.350C>G
c.1476C>G (p.Phe492Leu)
n.2150C>G
19g.1047243C>TCA504887516ABCA7c.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
19g.1047244C>ACA402952135ABCA7c.1933C>A (p.Leu645Met)
n.2613C>A
c.1519C>A (p.Leu507Met)
n.351C>A
c.1477C>A (p.Leu493Met)
n.2151C>A
19g.1047244C=CA2317482839ABCA7c.1933C= (p.Leu645=)
n.2613C=
c.1519C= (p.Leu507=)
n.351C=
c.1477C= (p.Leu493=)
n.2151C=
19g.1047244C>GCA9033243ABCA7c.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
19g.1047244C>TCA504887517ABCA7c.1933C>T (p.Leu645=)
n.2613C>T
c.1519C>T (p.Leu507=)
n.351C>T
c.1477C>T (p.Leu493=)
n.2151C>T
19g.1047245T>ACA402952136ABCA7c.1934T>A (p.Leu645Gln)
n.2614T>A
c.1520T>A (p.Leu507Gln)
n.352T>A
c.1478T>A (p.Leu493Gln)
n.2152T>A
19g.1047245T>CCA402952137ABCA7c.1934T>C (p.Leu645Pro)
n.2614T>C
c.1520T>C (p.Leu507Pro)
n.352T>C
c.1478T>C (p.Leu493Pro)
n.2152T>C
19g.1047245T>GCA402952138ABCA7c.1934T>G (p.Leu645Arg)
n.2614T>G
c.1520T>G (p.Leu507Arg)
n.352T>G
c.1478T>G (p.Leu493Arg)
n.2152T>G
19g.1047246G>ACA9033244ABCA7c.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
19g.1047246G>CCA504887520ABCA7c.1935G>C (p.Leu645=)
n.2615G>C
c.1521G>C (p.Leu507=)
n.353G>C
c.1479G>C (p.Leu493=)
n.2153G>C
 dbSNP
19g.1047246G=CA2317482840ABCA7c.1935G= (p.Leu645=)
n.2615G=
c.1521G= (p.Leu507=)
n.353G=
c.1479G= (p.Leu493=)
n.2153G=
19g.1047246G>TCA504887521ABCA7c.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
19g.1047247C>ACA303995521ABCA7c.1936C>A (p.Leu646Ile)
n.2616C>A
c.1522C>A (p.Leu508Ile)
n.354C>A
c.1480C>A (p.Leu494Ile)
n.2154C>A
 dbSNP
19g.1047247C=CA2317482841ABCA7c.1936C= (p.Leu646=)
n.2616C=
c.1522C= (p.Leu508=)
n.354C=
c.1480C= (p.Leu494=)
n.2154C=
19g.1047247C>GCA402952139ABCA7c.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
19g.1047247C>TCA303995508ABCA7c.1936C>T (p.Leu646Phe)
n.2616C>T
c.1522C>T (p.Leu508Phe)
n.354C>T
c.1480C>T (p.Leu494Phe)
n.2154C>T
 dbSNP
19g.1047248T>ACA402952141ABCA7c.1937T>A (p.Leu646His)
n.2617T>A
c.1523T>A (p.Leu508His)
n.355T>A
c.1481T>A (p.Leu494His)
n.2155T>A
19g.1047248T>CCA402952142ABCA7c.1937T>C (p.Leu646Pro)
n.2617T>C
c.1523T>C (p.Leu508Pro)
n.355T>C
c.1481T>C (p.Leu494Pro)
n.2155T>C
19g.1047248T>GCA402952140ABCA7c.1937T>G (p.Leu646Arg)
n.2617T>G
c.1523T>G (p.Leu508Arg)
n.355T>G
c.1481T>G (p.Leu494Arg)
n.2155T>G
19g.1047249C>ACA504887524ABCA7c.1938C>A (p.Leu646=)
n.2618C>A
c.1524C>A (p.Leu508=)
n.356C>A
c.1482C>A (p.Leu494=)
n.2156C>A
19g.1047249C>GCA504887525ABCA7c.1938C>G (p.Leu646=)
n.2618C>G
c.1524C>G (p.Leu508=)
n.356C>G
c.1482C>G (p.Leu494=)
n.2156C>G
19g.1047249C>TCA504887527ABCA7c.1938C>T (p.Leu646=)
n.2618C>T
c.1524C>T (p.Leu508=)
n.356C>T
c.1482C>T (p.Leu494=)
n.2156C>T
19g.1047249dupCA2576543455ABCA7c.1938dup (p.Ser647GlnfsTer?)
n.2618dup
c.1524dup (p.Ser509GlnfsTer?)
n.356dup
c.1482dup (p.Ser495GlnfsTer?)
n.2156dup
19g.1047250A>CCA402952143ABCA7c.1939A>C (p.Ser647Arg)
n.2619A>C
c.1525A>C (p.Ser509Arg)
n.357A>C
c.1483A>C (p.Ser495Arg)
n.2157A>C
19g.1047250A>GCA402952144ABCA7c.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
19g.1047250A>TCA402952145ABCA7c.1939A>T (p.Ser647Cys)
n.2619A>T
c.1525A>T (p.Ser509Cys)
n.357A>T
c.1483A>T (p.Ser495Cys)
n.2157A>T
19g.1047251G>ACA402952146ABCA7c.1940G>A (p.Ser647Asn)
n.2620G>A
c.1526G>A (p.Ser509Asn)
n.358G>A
c.1484G>A (p.Ser495Asn)
n.2158G>A
19g.1047251G>CCA402952147ABCA7c.1940G>C (p.Ser647Thr)
n.2620G>C
c.1526G>C (p.Ser509Thr)
n.358G>C
c.1484G>C (p.Ser495Thr)
n.2158G>C
19g.1047251G>TCA402952148ABCA7c.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
19g.1047252C>ACA402952150ABCA7c.1941C>A (p.Ser647Arg)
n.2621C>A
c.1527C>A (p.Ser509Arg)
n.359C>A
c.1485C>A (p.Ser495Arg)
n.2159C>A
19g.1047252C=CA2317482842ABCA7c.1941C= (p.Ser647=)
n.2621C=
c.1527C= (p.Ser509=)
n.359C=
c.1485C= (p.Ser495=)
n.2159C=
19g.1047252C>GCA402952149ABCA7c.1941C>G (p.Ser647Arg)
n.2621C>G
c.1527C>G (p.Ser509Arg)
n.359C>G
c.1485C>G (p.Ser495Arg)
n.2159C>G
19g.1047252C>TCA303995522ABCA7c.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
19g.1047253G>ACA9033245ABCA7c.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
19g.1047253G>CCA402952151ABCA7c.1942G>C (p.Ala648Pro)
n.2622G>C
c.1528G>C (p.Ala510Pro)
n.360G>C
c.1486G>C (p.Ala496Pro)
n.2160G>C
19g.1047253G=CA2317482843ABCA7c.1942G= (p.Ala648=)
n.2622G=
c.1528G= (p.Ala510=)
n.360G=
c.1486G= (p.Ala496=)
n.2160G=
19g.1047253G>TCA402952152ABCA7c.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
19g.1047254C>ACA402952153ABCA7c.1943C>A (p.Ala648Asp)
n.2623C>A
c.1529C>A (p.Ala510Asp)
n.361C>A
c.1487C>A (p.Ala496Asp)
n.2161C>A
19g.1047254C=CA2317482845ABCA7c.1943C= (p.Ala648=)
n.2623C=
c.1529C= (p.Ala510=)
n.361C=
c.1487C= (p.Ala496=)
n.2161C=
19g.1047254C>GCA402952154ABCA7c.1943C>G (p.Ala648Gly)
n.2623C>G
c.1529C>G (p.Ala510Gly)
n.361C>G
c.1487C>G (p.Ala496Gly)
n.2161C>G
19g.1047254C>TCA9033246ABCA7c.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
19g.1047254_1047257delinsCCTTCA2317482844ABCA7c.1943_1946delinsCCTT (p.Ala648=)
n.2623_2626delinsCCTT
c.1529_1532delinsCCTT (p.Ala510=)
n.361_364delinsCCTT
c.1487_1490delinsCCTT (p.Ala496=)
n.2161_2164delinsCCTT
19g.1047255C>ACA504887533ABCA7c.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
19g.1047255C=CA2317482846ABCA7c.1944C= (p.Ala648=)
n.2624C=
c.1530C= (p.Ala510=)
n.362C=
c.1488C= (p.Ala496=)
n.2162C=
19g.1047255C>GCA504887535ABCA7c.1944C>G (p.Ala648=)
n.2624C>G
c.1530C>G (p.Ala510=)
n.362C>G
c.1488C>G (p.Ala496=)
n.2162C>G
19g.1047255C>TCA504887537ABCA7c.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
19g.1047260_1047262delCA9033247ABCA7c.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
19g.1047256T>ACA402952155ABCA7c.1945T>A (p.Phe649Ile)
n.2625T>A
c.1531T>A (p.Phe511Ile)
n.363T>A
c.1489T>A (p.Phe497Ile)
n.2163T>A
19g.1047256T>CCA9033248ABCA7c.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
19g.1047256T>GCA9033249ABCA7c.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
19g.1047256T=CA2317482847ABCA7c.1945T= (p.Phe649=)
n.2625T=
c.1531T= (p.Phe511=)
n.363T=
c.1489T= (p.Phe497=)
n.2163T=
19g.1047257T>ACA402952156ABCA7c.1946T>A (p.Phe649Tyr)
n.2626T>A
c.1532T>A (p.Phe511Tyr)
n.364T>A
c.1490T>A (p.Phe497Tyr)
n.2164T>A
19g.1047257T>CCA9033250ABCA7c.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
19g.1047257T>GCA402952157ABCA7c.1946T>G (p.Phe649Cys)
n.2626T>G
c.1532T>G (p.Phe511Cys)
n.364T>G
c.1490T>G (p.Phe497Cys)
n.2164T>G
19g.1047257T=CA2317482848ABCA7c.1946T= (p.Phe649=)
n.2626T=
c.1532T= (p.Phe511=)
n.364T=
c.1490T= (p.Phe497=)
n.2164T=
19g.1047258C>ACA402952158ABCA7c.1947C>A (p.Phe649Leu)
n.2627C>A
c.1533C>A (p.Phe511Leu)
n.365C>A
c.1491C>A (p.Phe497Leu)
n.2165C>A
19g.1047258C>GCA402952159ABCA7c.1947C>G (p.Phe649Leu)
n.2627C>G
c.1533C>G (p.Phe511Leu)
n.365C>G
c.1491C>G (p.Phe497Leu)
n.2165C>G
19g.1047258C>TCA504887541ABCA7c.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
19g.1047259T>ACA402952160ABCA7c.1948T>A (p.Phe650Ile)
n.2628T>A
c.1534T>A (p.Phe512Ile)
n.366T>A
c.1492T>A (p.Phe498Ile)
n.2166T>A
19g.1047259T>CCA402952161ABCA7c.1948T>C (p.Phe650Leu)
n.2628T>C
c.1534T>C (p.Phe512Leu)
n.366T>C
c.1492T>C (p.Phe498Leu)
n.2166T>C
19g.1047259T>GCA402952162ABCA7c.1948T>G (p.Phe650Val)
n.2628T>G
c.1534T>G (p.Phe512Val)
n.366T>G
c.1492T>G (p.Phe498Val)
n.2166T>G
19g.1047260T>ACA402952165ABCA7c.1949T>A (p.Phe650Tyr)
n.2629T>A
c.1535T>A (p.Phe512Tyr)
n.367T>A
c.1493T>A (p.Phe498Tyr)
n.2167T>A
19g.1047260T>CCA402952164ABCA7c.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
19g.1047260T>GCA402952163ABCA7c.1949T>G (p.Phe650Cys)
n.2629T>G
c.1535T>G (p.Phe512Cys)
n.367T>G
c.1493T>G (p.Phe498Cys)
n.2167T>G
19g.1047260_1047261delinsTCCA2317482849ABCA7c.1949_1950delinsTC (p.Phe650=)
n.2629_2630delinsTC
c.1535_1536delinsTC (p.Phe512=)
n.367_368delinsTC
c.1493_1494delinsTC (p.Phe498=)
n.2167_2168delinsTC
19g.1047261delCA9033251ABCA7c.1950del (p.Ser651ProfsTer?)
n.2630del
c.1536del (p.Ser513ProfsTer?)
n.368del
c.1494del (p.Ser499ProfsTer?)
n.2168del
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.1047261C>ACA402952166ABCA7c.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
19g.1047261C=CA2317482850ABCA7c.1950C= (p.Phe650=)
n.2630C=
c.1536C= (p.Phe512=)
n.368C=
c.1494C= (p.Phe498=)
n.2168C=
19g.1047261C>GCA9033252ABCA7c.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
19g.1047261C>TCA9033253ABCA7c.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
19g.1047262T>ACA402952169ABCA7c.1951T>A (p.Ser651Thr)
n.2631T>A
c.1537T>A (p.Ser513Thr)
n.369T>A
c.1495T>A (p.Ser499Thr)
n.2169T>A
19g.1047262T>CCA402952167ABCA7c.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
19g.1047262T>GCA402952168ABCA7c.1951T>G (p.Ser651Ala)
n.2631T>G
c.1537T>G (p.Ser513Ala)
n.369T>G
c.1495T>G (p.Ser499Ala)
n.2169T>G
19g.1047263C>ACA402952170ABCA7c.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
19g.1047263C=CA2317482851ABCA7c.1952C= (p.Ser651=)
n.2632C=
c.1538C= (p.Ser513=)
n.370C=
c.1496C= (p.Ser499=)
n.2170C=
19g.1047263C>GCA9033254ABCA7c.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
19g.1047263C>TCA402952171ABCA7c.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
19g.1047264C>ACA504887551ABCA7c.1953C>A (p.Ser651=)
n.2633C>A
c.1539C>A (p.Ser513=)
n.371C>A
c.1497C>A (p.Ser499=)
n.2171C>A
19g.1047264C>GCA504887552ABCA7c.1953C>G (p.Ser651=)
n.2633C>G
c.1539C>G (p.Ser513=)
n.371C>G
c.1497C>G (p.Ser499=)
n.2171C>G
19g.1047264C>TCA504887553ABCA7c.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
19g.1047265C>ACA9033255ABCA7c.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
19g.1047265C=CA2317482852ABCA7c.1954C= (p.Arg652=)
n.2634C=
c.1540C= (p.Arg514=)
n.372C=
c.1498C= (p.Arg500=)
n.2172C=
19g.1047265C>GCA9033256ABCA7c.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
19g.1047265C>TCA402952172ABCA7c.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
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

Number of alleles fetched