Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104831713T>ACA374324769ABCA1c.1624A>T (p.Thr542Ser)
c.1444A>T (p.Thr482Ser)
c.1699A>T (p.Thr567Ser)
c.1261A>T (p.Thr421Ser)
c.1561A>T (p.Thr521Ser)
n.2012A>T
9g.104831713T>CCA374324770ABCA1c.1624A>G (p.Thr542Ala)
c.1444A>G (p.Thr482Ala)
c.1699A>G (p.Thr567Ala)
c.1261A>G (p.Thr421Ala)
c.1561A>G (p.Thr521Ala)
n.2012A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831713T>GCA374324771ABCA1c.1624A>C (p.Thr542Pro)
c.1444A>C (p.Thr482Pro)
c.1699A>C (p.Thr567Pro)
c.1261A>C (p.Thr421Pro)
c.1561A>C (p.Thr521Pro)
n.2012A>C
9g.104831713T=CA1869925729ABCA1c.1624A= (p.Thr542=)
c.1444A= (p.Thr482=)
c.1699A= (p.Thr567=)
c.1261A= (p.Thr421=)
c.1561A= (p.Thr521=)
n.2012A=
9g.104831714A>CCA374324772ABCA1c.1623T>G (p.Ile541Met)
c.1443T>G (p.Ile481Met)
c.1698T>G (p.Ile566Met)
c.1260T>G (p.Ile420Met)
c.1560T>G (p.Ile520Met)
n.2011T>G
9g.104831714A>GCA466512756ABCA1c.1623T>C (p.Ile541=)
c.1443T>C (p.Ile481=)
c.1698T>C (p.Ile566=)
c.1260T>C (p.Ile420=)
c.1560T>C (p.Ile520=)
n.2011T>C
9g.104831714A>TCA466512758ABCA1c.1623T>A (p.Ile541=)
c.1443T>A (p.Ile481=)
c.1698T>A (p.Ile566=)
c.1260T>A (p.Ile420=)
c.1560T>A (p.Ile520=)
n.2011T>A
9g.104831715A>CCA374324775ABCA1c.1622T>G (p.Ile541Ser)
c.1442T>G (p.Ile481Ser)
c.1697T>G (p.Ile566Ser)
c.1259T>G (p.Ile420Ser)
c.1559T>G (p.Ile520Ser)
n.2010T>G
9g.104831715A>GCA374324774ABCA1c.1622T>C (p.Ile541Thr)
c.1442T>C (p.Ile481Thr)
c.1697T>C (p.Ile566Thr)
c.1259T>C (p.Ile420Thr)
c.1559T>C (p.Ile520Thr)
n.2010T>C
9g.104831715A>TCA374324773ABCA1c.1622T>A (p.Ile541Asn)
c.1442T>A (p.Ile481Asn)
c.1697T>A (p.Ile566Asn)
c.1259T>A (p.Ile420Asn)
c.1559T>A (p.Ile520Asn)
n.2010T>A
9g.104831716T>ACA374324776ABCA1c.1621A>T (p.Ile541Phe)
c.1441A>T (p.Ile481Phe)
c.1696A>T (p.Ile566Phe)
c.1258A>T (p.Ile420Phe)
c.1558A>T (p.Ile520Phe)
n.2009A>T
9g.104831716T>CCA5168967ABCA1c.1621A>G (p.Ile541Val)
c.1441A>G (p.Ile481Val)
c.1696A>G (p.Ile566Val)
c.1258A>G (p.Ile420Val)
c.1558A>G (p.Ile520Val)
n.2009A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831716T>GCA374324777ABCA1c.1621A>C (p.Ile541Leu)
c.1441A>C (p.Ile481Leu)
c.1696A>C (p.Ile566Leu)
c.1258A>C (p.Ile420Leu)
c.1558A>C (p.Ile520Leu)
n.2009A>C
9g.104831716T=CA1869925735ABCA1c.1621A= (p.Ile541=)
c.1441A= (p.Ile481=)
c.1696A= (p.Ile566=)
c.1258A= (p.Ile420=)
c.1558A= (p.Ile520=)
n.2009A=
9g.104831717T>ACA466512774ABCA1c.1620A>T (p.Gly540=)
c.1440A>T (p.Gly480=)
c.1695A>T (p.Gly565=)
c.1257A>T (p.Gly419=)
c.1557A>T (p.Gly519=)
n.2008A>T
 ClinVar dbSNP gnomAD v4
9g.104831717T>CCA466512776ABCA1c.1620A>G (p.Gly540=)
c.1440A>G (p.Gly480=)
c.1695A>G (p.Gly565=)
c.1257A>G (p.Gly419=)
c.1557A>G (p.Gly519=)
n.2008A>G
9g.104831717T>GCA466512779ABCA1c.1620A>C (p.Gly540=)
c.1440A>C (p.Gly480=)
c.1695A>C (p.Gly565=)
c.1257A>C (p.Gly419=)
c.1557A>C (p.Gly519=)
n.2008A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104831717T=CA1869925738ABCA1c.1620A= (p.Gly540=)
c.1440A= (p.Gly480=)
c.1695A= (p.Gly565=)
c.1257A= (p.Gly419=)
c.1557A= (p.Gly519=)
n.2008A=
9g.104831718C>ACA374324778ABCA1c.1619G>T (p.Gly540Val)
c.1439G>T (p.Gly480Val)
c.1694G>T (p.Gly565Val)
c.1256G>T (p.Gly419Val)
c.1556G>T (p.Gly519Val)
n.2007G>T
9g.104831718C>GCA374324779ABCA1c.1619G>C (p.Gly540Ala)
c.1439G>C (p.Gly480Ala)
c.1694G>C (p.Gly565Ala)
c.1256G>C (p.Gly419Ala)
c.1556G>C (p.Gly519Ala)
n.2007G>C
9g.104831718C>TCA374324780ABCA1c.1619G>A (p.Gly540Glu)
c.1439G>A (p.Gly480Glu)
c.1694G>A (p.Gly565Glu)
c.1256G>A (p.Gly419Glu)
c.1556G>A (p.Gly519Glu)
n.2007G>A
9g.104831719C>ACA374324781ABCA1c.1618G>T (p.Gly540Ter)
c.1438G>T (p.Gly480Ter)
c.1693G>T (p.Gly565Ter)
c.1255G>T (p.Gly419Ter)
c.1555G>T (p.Gly519Ter)
n.2006G>T
9g.104831719C>GCA374324782ABCA1c.1618G>C (p.Gly540Arg)
c.1438G>C (p.Gly480Arg)
c.1693G>C (p.Gly565Arg)
c.1255G>C (p.Gly419Arg)
c.1555G>C (p.Gly519Arg)
n.2006G>C
9g.104831719C>TCA374324783ABCA1c.1618G>A (p.Gly540Arg)
c.1438G>A (p.Gly480Arg)
c.1693G>A (p.Gly565Arg)
c.1255G>A (p.Gly419Arg)
c.1555G>A (p.Gly519Arg)
n.2006G>A
 gnomAD v4
9g.104831720A>CCA466512793ABCA1c.1617T>G (p.Thr539=)
c.1437T>G (p.Thr479=)
c.1692T>G (p.Thr564=)
c.1254T>G (p.Thr418=)
c.1554T>G (p.Thr518=)
n.2005T>G
9g.104831720A>GCA466512795ABCA1c.1617T>C (p.Thr539=)
c.1437T>C (p.Thr479=)
c.1692T>C (p.Thr564=)
c.1254T>C (p.Thr418=)
c.1554T>C (p.Thr518=)
n.2005T>C
9g.104831720A>TCA466512797ABCA1c.1617T>A (p.Thr539=)
c.1437T>A (p.Thr479=)
c.1692T>A (p.Thr564=)
c.1254T>A (p.Thr418=)
c.1554T>A (p.Thr518=)
n.2005T>A
9g.104831721G>ACA374324784ABCA1c.1616C>T (p.Thr539Ile)
c.1436C>T (p.Thr479Ile)
c.1691C>T (p.Thr564Ile)
c.1253C>T (p.Thr418Ile)
c.1553C>T (p.Thr518Ile)
n.2004C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831721G>CCA374324785ABCA1c.1616C>G (p.Thr539Ser)
c.1436C>G (p.Thr479Ser)
c.1691C>G (p.Thr564Ser)
c.1253C>G (p.Thr418Ser)
c.1553C>G (p.Thr518Ser)
n.2004C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104831721G=CA1869925746ABCA1c.1616C= (p.Thr539=)
c.1436C= (p.Thr479=)
c.1691C= (p.Thr564=)
c.1253C= (p.Thr418=)
c.1553C= (p.Thr518=)
n.2004C=
9g.104831721G>TCA374324786ABCA1c.1616C>A (p.Thr539Asn)
c.1436C>A (p.Thr479Asn)
c.1691C>A (p.Thr564Asn)
c.1253C>A (p.Thr418Asn)
c.1553C>A (p.Thr518Asn)
n.2004C>A
9g.104831722T>ACA374324787ABCA1c.1615A>T (p.Thr539Ser)
c.1435A>T (p.Thr479Ser)
c.1690A>T (p.Thr564Ser)
c.1252A>T (p.Thr418Ser)
c.1552A>T (p.Thr518Ser)
n.2003A>T
9g.104831722T>CCA374324788ABCA1c.1615A>G (p.Thr539Ala)
c.1435A>G (p.Thr479Ala)
c.1690A>G (p.Thr564Ala)
c.1252A>G (p.Thr418Ala)
c.1552A>G (p.Thr518Ala)
n.2003A>G
9g.104831722T>GCA197397027ABCA1c.1615A>C (p.Thr539Pro)
c.1435A>C (p.Thr479Pro)
c.1690A>C (p.Thr564Pro)
c.1252A>C (p.Thr418Pro)
c.1552A>C (p.Thr518Pro)
n.2003A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104831722T=CA1869925752ABCA1c.1615A= (p.Thr539=)
c.1435A= (p.Thr479=)
c.1690A= (p.Thr564=)
c.1252A= (p.Thr418=)
c.1552A= (p.Thr518=)
n.2003A=
9g.104831723G>ACA5168968ABCA1c.1614C>T (p.Phe538=)
c.1434C>T (p.Phe478=)
c.1689C>T (p.Phe563=)
c.1251C>T (p.Phe417=)
c.1551C>T (p.Phe517=)
n.2002C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831723G>CCA374324789ABCA1c.1614C>G (p.Phe538Leu)
c.1434C>G (p.Phe478Leu)
c.1689C>G (p.Phe563Leu)
c.1251C>G (p.Phe417Leu)
c.1551C>G (p.Phe517Leu)
n.2002C>G
9g.104831723G=CA1869925758ABCA1c.1614C= (p.Phe538=)
c.1434C= (p.Phe478=)
c.1689C= (p.Phe563=)
c.1251C= (p.Phe417=)
c.1551C= (p.Phe517=)
n.2002C=
9g.104831723G>TCA374324790ABCA1c.1614C>A (p.Phe538Leu)
c.1434C>A (p.Phe478Leu)
c.1689C>A (p.Phe563Leu)
c.1251C>A (p.Phe417Leu)
c.1551C>A (p.Phe517Leu)
n.2002C>A
 gnomAD v4
9g.104831724A>CCA374324791ABCA1c.1613T>G (p.Phe538Cys)
c.1433T>G (p.Phe478Cys)
c.1688T>G (p.Phe563Cys)
c.1250T>G (p.Phe417Cys)
c.1550T>G (p.Phe517Cys)
n.2001T>G
9g.104831724A>GCA374324792ABCA1c.1613T>C (p.Phe538Ser)
c.1433T>C (p.Phe478Ser)
c.1688T>C (p.Phe563Ser)
c.1250T>C (p.Phe417Ser)
c.1550T>C (p.Phe517Ser)
n.2001T>C
9g.104831724A>TCA374324793ABCA1c.1613T>A (p.Phe538Tyr)
c.1433T>A (p.Phe478Tyr)
c.1688T>A (p.Phe563Tyr)
c.1250T>A (p.Phe417Tyr)
c.1550T>A (p.Phe517Tyr)
n.2001T>A
9g.104831725A>CCA374324794ABCA1c.1612T>G (p.Phe538Val)
c.1432T>G (p.Phe478Val)
c.1687T>G (p.Phe563Val)
c.1249T>G (p.Phe417Val)
c.1549T>G (p.Phe517Val)
n.2000T>G
9g.104831725A>GCA374324795ABCA1c.1612T>C (p.Phe538Leu)
c.1432T>C (p.Phe478Leu)
c.1687T>C (p.Phe563Leu)
c.1249T>C (p.Phe417Leu)
c.1549T>C (p.Phe517Leu)
n.2000T>C
9g.104831725A>TCA374324796ABCA1c.1612T>A (p.Phe538Ile)
c.1432T>A (p.Phe478Ile)
c.1687T>A (p.Phe563Ile)
c.1249T>A (p.Phe417Ile)
c.1549T>A (p.Phe517Ile)
n.2000T>A
9g.104831726C>ACA466512831ABCA1c.1611G>T (p.Val537=)
c.1431G>T (p.Val477=)
c.1686G>T (p.Val562=)
c.1248G>T (p.Val416=)
c.1548G>T (p.Val516=)
n.1999G>T
9g.104831726C=CA1869925772ABCA1c.1611G= (p.Val537=)
c.1431G= (p.Val477=)
c.1686G= (p.Val562=)
c.1248G= (p.Val416=)
c.1548G= (p.Val516=)
n.1999G=
9g.104831726C>GCA466512833ABCA1c.1611G>C (p.Val537=)
c.1431G>C (p.Val477=)
c.1686G>C (p.Val562=)
c.1248G>C (p.Val416=)
c.1548G>C (p.Val516=)
n.1999G>C
9g.104831726C>TCA466512836ABCA1c.1611G>A (p.Val537=)
c.1431G>A (p.Val477=)
c.1686G>A (p.Val562=)
c.1248G>A (p.Val416=)
c.1548G>A (p.Val516=)
n.1999G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104831727A>CCA374324797ABCA1c.1610T>G (p.Val537Gly)
c.1430T>G (p.Val477Gly)
c.1685T>G (p.Val562Gly)
c.1247T>G (p.Val416Gly)
c.1547T>G (p.Val516Gly)
n.1998T>G
9g.104831727A>GCA374324798ABCA1c.1610T>C (p.Val537Ala)
c.1430T>C (p.Val477Ala)
c.1685T>C (p.Val562Ala)
c.1247T>C (p.Val416Ala)
c.1547T>C (p.Val516Ala)
n.1998T>C
9g.104831727A>TCA374324799ABCA1c.1610T>A (p.Val537Glu)
c.1430T>A (p.Val477Glu)
c.1685T>A (p.Val562Glu)
c.1247T>A (p.Val416Glu)
c.1547T>A (p.Val516Glu)
n.1998T>A
9g.104831728C>ACA374324800ABCA1c.1609G>T (p.Val537Leu)
c.1429G>T (p.Val477Leu)
c.1684G>T (p.Val562Leu)
c.1246G>T (p.Val416Leu)
c.1546G>T (p.Val516Leu)
n.1997G>T
9g.104831728C>GCA374324801ABCA1c.1609G>C (p.Val537Leu)
c.1429G>C (p.Val477Leu)
c.1684G>C (p.Val562Leu)
c.1246G>C (p.Val416Leu)
c.1546G>C (p.Val516Leu)
n.1997G>C
9g.104831728C>TCA374324802ABCA1c.1609G>A (p.Val537Met)
c.1429G>A (p.Val477Met)
c.1684G>A (p.Val562Met)
c.1246G>A (p.Val416Met)
c.1546G>A (p.Val516Met)
n.1997G>A
 ClinVar dbSNP gnomAD v4
9g.104831729A>CCA374324803ABCA1c.1608T>G (p.Ile536Met)
c.1428T>G (p.Ile476Met)
c.1683T>G (p.Ile561Met)
c.1245T>G (p.Ile415Met)
c.1545T>G (p.Ile515Met)
n.1996T>G
 gnomAD v4
9g.104831729A>GCA466512850ABCA1c.1608T>C (p.Ile536=)
c.1428T>C (p.Ile476=)
c.1683T>C (p.Ile561=)
c.1245T>C (p.Ile415=)
c.1545T>C (p.Ile515=)
n.1996T>C
9g.104831729A>TCA466512852ABCA1c.1608T>A (p.Ile536=)
c.1428T>A (p.Ile476=)
c.1683T>A (p.Ile561=)
c.1245T>A (p.Ile415=)
c.1545T>A (p.Ile515=)
n.1996T>A
9g.104831730A>CCA374324804ABCA1c.1607T>G (p.Ile536Ser)
c.1427T>G (p.Ile476Ser)
c.1682T>G (p.Ile561Ser)
c.1244T>G (p.Ile415Ser)
c.1544T>G (p.Ile515Ser)
n.1995T>G
9g.104831730A>GCA374324805ABCA1c.1607T>C (p.Ile536Thr)
c.1427T>C (p.Ile476Thr)
c.1682T>C (p.Ile561Thr)
c.1244T>C (p.Ile415Thr)
c.1544T>C (p.Ile515Thr)
n.1995T>C
9g.104831730A>TCA374324806ABCA1c.1607T>A (p.Ile536Asn)
c.1427T>A (p.Ile476Asn)
c.1682T>A (p.Ile561Asn)
c.1244T>A (p.Ile415Asn)
c.1544T>A (p.Ile515Asn)
n.1995T>A
9g.104831731T>ACA374324807ABCA1c.1606A>T (p.Ile536Phe)
c.1426A>T (p.Ile476Phe)
c.1681A>T (p.Ile561Phe)
c.1243A>T (p.Ile415Phe)
c.1543A>T (p.Ile515Phe)
n.1994A>T
9g.104831731T>CCA374324808ABCA1c.1606A>G (p.Ile536Val)
c.1426A>G (p.Ile476Val)
c.1681A>G (p.Ile561Val)
c.1243A>G (p.Ile415Val)
c.1543A>G (p.Ile515Val)
n.1994A>G
9g.104831731T>GCA374324809ABCA1c.1606A>C (p.Ile536Leu)
c.1426A>C (p.Ile476Leu)
c.1681A>C (p.Ile561Leu)
c.1243A>C (p.Ile415Leu)
c.1543A>C (p.Ile515Leu)
n.1994A>C
9g.104831732A>CCA466512871ABCA1c.1605T>G (p.Gly535=)
c.1425T>G (p.Gly475=)
c.1680T>G (p.Gly560=)
c.1242T>G (p.Gly414=)
c.1542T>G (p.Gly514=)
n.1993T>G
9g.104831732A>GCA466512866ABCA1c.1605T>C (p.Gly535=)
c.1425T>C (p.Gly475=)
c.1680T>C (p.Gly560=)
c.1242T>C (p.Gly414=)
c.1542T>C (p.Gly514=)
n.1993T>C
9g.104831732A>TCA466512869ABCA1c.1605T>A (p.Gly535=)
c.1425T>A (p.Gly475=)
c.1680T>A (p.Gly560=)
c.1242T>A (p.Gly414=)
c.1542T>A (p.Gly514=)
n.1993T>A
9g.104831733C>ACA374324810ABCA1c.1604G>T (p.Gly535Val)
c.1424G>T (p.Gly475Val)
c.1679G>T (p.Gly560Val)
c.1241G>T (p.Gly414Val)
c.1541G>T (p.Gly514Val)
n.1992G>T
9g.104831733C>GCA374324811ABCA1c.1604G>C (p.Gly535Ala)
c.1424G>C (p.Gly475Ala)
c.1679G>C (p.Gly560Ala)
c.1241G>C (p.Gly414Ala)
c.1541G>C (p.Gly514Ala)
n.1992G>C
9g.104831733C>TCA374324812ABCA1c.1604G>A (p.Gly535Asp)
c.1424G>A (p.Gly475Asp)
c.1679G>A (p.Gly560Asp)
c.1241G>A (p.Gly414Asp)
c.1541G>A (p.Gly514Asp)
n.1992G>A
9g.104831734C>ACA374324813ABCA1c.1603G>T (p.Gly535Cys)
c.1423G>T (p.Gly475Cys)
c.1678G>T (p.Gly560Cys)
c.1240G>T (p.Gly414Cys)
c.1540G>T (p.Gly514Cys)
n.1991G>T
9g.104831734C>GCA374324814ABCA1c.1603G>C (p.Gly535Arg)
c.1423G>C (p.Gly475Arg)
c.1678G>C (p.Gly560Arg)
c.1240G>C (p.Gly414Arg)
c.1540G>C (p.Gly514Arg)
n.1991G>C
9g.104831734C>TCA374324815ABCA1c.1603G>A (p.Gly535Ser)
c.1423G>A (p.Gly475Ser)
c.1678G>A (p.Gly560Ser)
c.1240G>A (p.Gly414Ser)
c.1540G>A (p.Gly514Ser)
n.1991G>A
9g.104831734_104831735insGTACA2691053461ABCA1c.1602_1603insTAC (p.Ala534_Gly535insTyr)
c.1422_1423insTAC (p.Ala474_Gly475insTyr)
c.1677_1678insTAC (p.Ala559_Gly560insTyr)
c.1239_1240insTAC (p.Ala413_Gly414insTyr)
c.1539_1540insTAC (p.Ala513_Gly514insTyr)
n.1990_1991insTAC
 gnomAD v4
9g.104831735A>CCA466512886ABCA1c.1602T>G (p.Ala534=)
c.1422T>G (p.Ala474=)
c.1677T>G (p.Ala559=)
c.1239T>G (p.Ala413=)
c.1539T>G (p.Ala513=)
n.1990T>G
9g.104831735A>GCA466512887ABCA1c.1602T>C (p.Ala534=)
c.1422T>C (p.Ala474=)
c.1677T>C (p.Ala559=)
c.1239T>C (p.Ala413=)
c.1539T>C (p.Ala513=)
n.1990T>C
 gnomAD v4
9g.104831735A>TCA466512889ABCA1c.1602T>A (p.Ala534=)
c.1422T>A (p.Ala474=)
c.1677T>A (p.Ala559=)
c.1239T>A (p.Ala413=)
c.1539T>A (p.Ala513=)
n.1990T>A
9g.104831736G>ACA374324818ABCA1c.1601C>T (p.Ala534Val)
c.1421C>T (p.Ala474Val)
c.1676C>T (p.Ala559Val)
c.1238C>T (p.Ala413Val)
c.1538C>T (p.Ala513Val)
n.1989C>T
9g.104831736G>CCA374324817ABCA1c.1601C>G (p.Ala534Gly)
c.1421C>G (p.Ala474Gly)
c.1676C>G (p.Ala559Gly)
c.1238C>G (p.Ala413Gly)
c.1538C>G (p.Ala513Gly)
n.1989C>G
9g.104831736G>TCA374324816ABCA1c.1601C>A (p.Ala534Asp)
c.1421C>A (p.Ala474Asp)
c.1676C>A (p.Ala559Asp)
c.1238C>A (p.Ala413Asp)
c.1538C>A (p.Ala513Asp)
n.1989C>A
9g.104831737C>ACA374324819ABCA1c.1600G>T (p.Ala534Ser)
c.1420G>T (p.Ala474Ser)
c.1675G>T (p.Ala559Ser)
c.1237G>T (p.Ala413Ser)
c.1537G>T (p.Ala513Ser)
n.1988G>T
9g.104831737C>GCA374324820ABCA1c.1600G>C (p.Ala534Pro)
c.1420G>C (p.Ala474Pro)
c.1675G>C (p.Ala559Pro)
c.1237G>C (p.Ala413Pro)
c.1537G>C (p.Ala513Pro)
n.1988G>C
9g.104831737C>TCA374324821ABCA1c.1600G>A (p.Ala534Thr)
c.1420G>A (p.Ala474Thr)
c.1675G>A (p.Ala559Thr)
c.1237G>A (p.Ala413Thr)
c.1537G>A (p.Ala513Thr)
n.1988G>A
 dbSNP gnomAD v4
9g.104831738C>ACA374324822ABCA1c.1599G>T (p.Trp533Cys)
c.1419G>T (p.Trp473Cys)
c.1674G>T (p.Trp558Cys)
c.1236G>T (p.Trp412Cys)
c.1536G>T (p.Trp512Cys)
n.1987G>T
9g.104831738C>GCA374324823ABCA1c.1599G>C (p.Trp533Cys)
c.1419G>C (p.Trp473Cys)
c.1674G>C (p.Trp558Cys)
c.1236G>C (p.Trp412Cys)
c.1536G>C (p.Trp512Cys)
n.1987G>C
9g.104831738C>TCA374324824ABCA1c.1599G>A (p.Trp533Ter)
c.1419G>A (p.Trp473Ter)
c.1674G>A (p.Trp558Ter)
c.1236G>A (p.Trp412Ter)
c.1536G>A (p.Trp512Ter)
n.1987G>A
9g.104831739C>ACA374324827ABCA1c.1598G>T (p.Trp533Leu)
c.1418G>T (p.Trp473Leu)
c.1673G>T (p.Trp558Leu)
c.1235G>T (p.Trp412Leu)
c.1535G>T (p.Trp512Leu)
n.1986G>T
9g.104831739C>GCA374324829ABCA1c.1598G>C (p.Trp533Ser)
c.1418G>C (p.Trp473Ser)
c.1673G>C (p.Trp558Ser)
c.1235G>C (p.Trp412Ser)
c.1535G>C (p.Trp512Ser)
n.1986G>C
9g.104831739C>TCA374324831ABCA1c.1598G>A (p.Trp533Ter)
c.1418G>A (p.Trp473Ter)
c.1673G>A (p.Trp558Ter)
c.1235G>A (p.Trp412Ter)
c.1535G>A (p.Trp512Ter)
n.1986G>A
9g.104831739_104831753delinsCAGAACTTCCTCTCACA1869925777ABCA1c.1584_1598delinsTGAGAGGAAGTTCTG (p.Asp528=)
c.1404_1418delinsTGAGAGGAAGTTCTG (p.Asp468=)
c.1659_1673delinsTGAGAGGAAGTTCTG (p.Asp553=)
c.1221_1235delinsTGAGAGGAAGTTCTG (p.Asp407=)
c.1521_1535delinsTGAGAGGAAGTTCTG (p.Asp507=)
n.1972_1986delinsTGAGAGGAAGTTCTG
9g.104831740A>CCA374324834ABCA1c.1597T>G (p.Trp533Gly)
c.1417T>G (p.Trp473Gly)
c.1672T>G (p.Trp558Gly)
c.1234T>G (p.Trp412Gly)
c.1534T>G (p.Trp512Gly)
n.1985T>G
9g.104831740A>GCA374324836ABCA1c.1597T>C (p.Trp533Arg)
c.1417T>C (p.Trp473Arg)
c.1672T>C (p.Trp558Arg)
c.1234T>C (p.Trp412Arg)
c.1534T>C (p.Trp512Arg)
n.1985T>C
9g.104831740A>TCA374324838ABCA1c.1597T>A (p.Trp533Arg)
c.1417T>A (p.Trp473Arg)
c.1672T>A (p.Trp558Arg)
c.1234T>A (p.Trp412Arg)
c.1534T>A (p.Trp512Arg)
n.1985T>A
9g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTCA197397044ABCA1c.1584_1597delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp528GlufsTer23)
c.1404_1417delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp468GlufsTer23)
c.1659_1672delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp553GlufsTer23)
c.1221_1234delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp407GlufsTer23)
c.1521_1534delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp507GlufsTer23)
n.1972_1985delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC
 dbSNP
9g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCGCA212917ABCA1c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp529GlyfsTer15)
c.1404_1417delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp469GlyfsTer15)
c.1659_1672delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp554GlyfsTer15)
c.1221_1234delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp408GlyfsTer15)
c.1521_1534delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp508GlyfsTer15)
n.1972_1985delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC
 ClinVar dbSNP
9g.104831741G>ACA466512915ABCA1c.1596C>T (p.Phe532=)
c.1416C>T (p.Phe472=)
c.1671C>T (p.Phe557=)
c.1233C>T (p.Phe411=)
c.1533C>T (p.Phe511=)
n.1984C>T
9g.104831741G>CCA374324843ABCA1c.1596C>G (p.Phe532Leu)
c.1416C>G (p.Phe472Leu)
c.1671C>G (p.Phe557Leu)
c.1233C>G (p.Phe411Leu)
c.1533C>G (p.Phe511Leu)
n.1984C>G
9g.104831741G>TCA374324841ABCA1c.1596C>A (p.Phe532Leu)
c.1416C>A (p.Phe472Leu)
c.1671C>A (p.Phe557Leu)
c.1233C>A (p.Phe411Leu)
c.1533C>A (p.Phe511Leu)
n.1984C>A
 COSMIC
9g.104831742A>CCA374324846ABCA1c.1595T>G (p.Phe532Cys)
c.1415T>G (p.Phe472Cys)
c.1670T>G (p.Phe557Cys)
c.1232T>G (p.Phe411Cys)
c.1532T>G (p.Phe511Cys)
n.1983T>G
9g.104831742A>GCA374324847ABCA1c.1595T>C (p.Phe532Ser)
c.1415T>C (p.Phe472Ser)
c.1670T>C (p.Phe557Ser)
c.1232T>C (p.Phe411Ser)
c.1532T>C (p.Phe511Ser)
n.1983T>C
9g.104831742A>TCA374324849ABCA1c.1595T>A (p.Phe532Tyr)
c.1415T>A (p.Phe472Tyr)
c.1670T>A (p.Phe557Tyr)
c.1232T>A (p.Phe411Tyr)
c.1532T>A (p.Phe511Tyr)
n.1983T>A
 gnomAD v4
9g.104831743A>CCA374324852ABCA1c.1594T>G (p.Phe532Val)
c.1414T>G (p.Phe472Val)
c.1669T>G (p.Phe557Val)
c.1231T>G (p.Phe411Val)
c.1531T>G (p.Phe511Val)
n.1982T>G
9g.104831743A>GCA374324853ABCA1c.1594T>C (p.Phe532Leu)
c.1414T>C (p.Phe472Leu)
c.1669T>C (p.Phe557Leu)
c.1231T>C (p.Phe411Leu)
c.1531T>C (p.Phe511Leu)
n.1982T>C
9g.104831743A>TCA374324855ABCA1c.1594T>A (p.Phe532Ile)
c.1414T>A (p.Phe472Ile)
c.1669T>A (p.Phe557Ile)
c.1231T>A (p.Phe411Ile)
c.1531T>A (p.Phe511Ile)
n.1982T>A
9g.104831744C>ACA374324858ABCA1c.1593G>T (p.Lys531Asn)
c.1413G>T (p.Lys471Asn)
c.1668G>T (p.Lys556Asn)
c.1230G>T (p.Lys410Asn)
c.1530G>T (p.Lys510Asn)
n.1981G>T
9g.104831744C=CA1869925789ABCA1c.1593G= (p.Lys531=)
c.1413G= (p.Lys471=)
c.1668G= (p.Lys556=)
c.1230G= (p.Lys410=)
c.1530G= (p.Lys510=)
n.1981G=
9g.104831744C>GCA374324859ABCA1c.1593G>C (p.Lys531Asn)
c.1413G>C (p.Lys471Asn)
c.1668G>C (p.Lys556Asn)
c.1230G>C (p.Lys410Asn)
c.1530G>C (p.Lys510Asn)
n.1981G>C
9g.104831744C>TCA466512932ABCA1c.1593G>A (p.Lys531=)
c.1413G>A (p.Lys471=)
c.1668G>A (p.Lys556=)
c.1230G>A (p.Lys410=)
c.1530G>A (p.Lys510=)
n.1981G>A
 dbSNP
9g.104831745T>ACA374324861ABCA1c.1592A>T (p.Lys531Met)
c.1412A>T (p.Lys471Met)
c.1667A>T (p.Lys556Met)
c.1229A>T (p.Lys410Met)
c.1529A>T (p.Lys510Met)
n.1980A>T
9g.104831745T>CCA374324863ABCA1c.1592A>G (p.Lys531Arg)
c.1412A>G (p.Lys471Arg)
c.1667A>G (p.Lys556Arg)
c.1229A>G (p.Lys410Arg)
c.1529A>G (p.Lys510Arg)
n.1980A>G
 gnomAD v4
9g.104831745T>GCA374324865ABCA1c.1592A>C (p.Lys531Thr)
c.1412A>C (p.Lys471Thr)
c.1667A>C (p.Lys556Thr)
c.1229A>C (p.Lys410Thr)
c.1529A>C (p.Lys510Thr)
n.1980A>C
9g.104831746T>ACA374324867ABCA1c.1591A>T (p.Lys531Ter)
c.1411A>T (p.Lys471Ter)
c.1666A>T (p.Lys556Ter)
c.1228A>T (p.Lys410Ter)
c.1528A>T (p.Lys510Ter)
n.1979A>T
9g.104831746T>CCA374324868ABCA1c.1591A>G (p.Lys531Glu)
c.1411A>G (p.Lys471Glu)
c.1666A>G (p.Lys556Glu)
c.1228A>G (p.Lys410Glu)
c.1528A>G (p.Lys510Glu)
n.1979A>G
9g.104831746T>GCA374324869ABCA1c.1591A>C (p.Lys531Gln)
c.1411A>C (p.Lys471Gln)
c.1666A>C (p.Lys556Gln)
c.1228A>C (p.Lys410Gln)
c.1528A>C (p.Lys510Gln)
n.1979A>C
9g.104831747C>ACA374324871ABCA1c.1590G>T (p.Arg530Ser)
c.1410G>T (p.Arg470Ser)
c.1665G>T (p.Arg555Ser)
c.1227G>T (p.Arg409Ser)
c.1527G>T (p.Arg509Ser)
n.1978G>T
 ClinVar
9g.104831747C>GCA374324873ABCA1c.1590G>C (p.Arg530Ser)
c.1410G>C (p.Arg470Ser)
c.1665G>C (p.Arg555Ser)
c.1227G>C (p.Arg409Ser)
c.1527G>C (p.Arg509Ser)
n.1978G>C
 gnomAD v4
9g.104831747C>TCA466512947ABCA1c.1590G>A (p.Arg530=)
c.1410G>A (p.Arg470=)
c.1665G>A (p.Arg555=)
c.1227G>A (p.Arg409=)
c.1527G>A (p.Arg509=)
n.1978G>A
9g.104831748C>ACA374324876ABCA1c.1589G>T (p.Arg530Met)
c.1409G>T (p.Arg470Met)
c.1664G>T (p.Arg555Met)
c.1226G>T (p.Arg409Met)
c.1526G>T (p.Arg509Met)
n.1977G>T
9g.104831748C>GCA374324880ABCA1c.1589G>C (p.Arg530Thr)
c.1409G>C (p.Arg470Thr)
c.1664G>C (p.Arg555Thr)
c.1226G>C (p.Arg409Thr)
c.1526G>C (p.Arg509Thr)
n.1977G>C
9g.104831748C>TCA374324878ABCA1c.1589G>A (p.Arg530Lys)
c.1409G>A (p.Arg470Lys)
c.1664G>A (p.Arg555Lys)
c.1226G>A (p.Arg409Lys)
c.1526G>A (p.Arg509Lys)
n.1977G>A
 gnomAD v4
9g.104831749T>ACA374324883ABCA1c.1588A>T (p.Arg530Trp)
c.1408A>T (p.Arg470Trp)
c.1663A>T (p.Arg555Trp)
c.1225A>T (p.Arg409Trp)
c.1525A>T (p.Arg509Trp)
n.1976A>T
9g.104831749T>CCA374324884ABCA1c.1588A>G (p.Arg530Gly)
c.1408A>G (p.Arg470Gly)
c.1663A>G (p.Arg555Gly)
c.1225A>G (p.Arg409Gly)
c.1525A>G (p.Arg509Gly)
n.1976A>G
9g.104831749T>GCA466512959ABCA1c.1588A>C (p.Arg530=)
c.1408A>C (p.Arg470=)
c.1663A>C (p.Arg555=)
c.1225A>C (p.Arg409=)
c.1525A>C (p.Arg509=)
n.1976A>C
9g.104831750C>ACA374324886ABCA1c.1587G>T (p.Glu529Asp)
c.1407G>T (p.Glu469Asp)
c.1662G>T (p.Glu554Asp)
c.1224G>T (p.Glu408Asp)
c.1524G>T (p.Glu508Asp)
n.1975G>T
9g.104831750C>GCA374324888ABCA1c.1587G>C (p.Glu529Asp)
c.1407G>C (p.Glu469Asp)
c.1662G>C (p.Glu554Asp)
c.1224G>C (p.Glu408Asp)
c.1524G>C (p.Glu508Asp)
n.1975G>C
9g.104831750C>TCA466512966ABCA1c.1587G>A (p.Glu529=)
c.1407G>A (p.Glu469=)
c.1662G>A (p.Glu554=)
c.1224G>A (p.Glu408=)
c.1524G>A (p.Glu508=)
n.1975G>A
 ClinVar gnomAD v4
9g.104831751T>ACA374324890ABCA1c.1586A>T (p.Glu529Val)
c.1406A>T (p.Glu469Val)
c.1661A>T (p.Glu554Val)
c.1223A>T (p.Glu408Val)
c.1523A>T (p.Glu508Val)
n.1974A>T
 dbSNP gnomAD v3 gnomAD v4
9g.104831751T>CCA374324892ABCA1c.1586A>G (p.Glu529Gly)
c.1406A>G (p.Glu469Gly)
c.1661A>G (p.Glu554Gly)
c.1223A>G (p.Glu408Gly)
c.1523A>G (p.Glu508Gly)
n.1974A>G
9g.104831751T>GCA374324894ABCA1c.1586A>C (p.Glu529Ala)
c.1406A>C (p.Glu469Ala)
c.1661A>C (p.Glu554Ala)
c.1223A>C (p.Glu408Ala)
c.1523A>C (p.Glu508Ala)
n.1974A>C
 gnomAD v4
9g.104831751T=CA1869925794ABCA1c.1586A= (p.Glu529=)
c.1406A= (p.Glu469=)
c.1661A= (p.Glu554=)
c.1223A= (p.Glu408=)
c.1523A= (p.Glu508=)
n.1974A=
9g.104831752C>ACA374324897ABCA1c.1585G>T (p.Glu529Ter)
c.1405G>T (p.Glu469Ter)
c.1660G>T (p.Glu554Ter)
c.1222G>T (p.Glu408Ter)
c.1522G>T (p.Glu508Ter)
n.1973G>T
9g.104831752C=CA1869925797ABCA1c.1585G= (p.Glu529=)
c.1405G= (p.Glu469=)
c.1660G= (p.Glu554=)
c.1222G= (p.Glu408=)
c.1522G= (p.Glu508=)
n.1973G=
9g.104831752C>GCA374324899ABCA1c.1585G>C (p.Glu529Gln)
c.1405G>C (p.Glu469Gln)
c.1660G>C (p.Glu554Gln)
c.1222G>C (p.Glu408Gln)
c.1522G>C (p.Glu508Gln)
n.1973G>C
 dbSNP gnomAD v2 gnomAD v4
9g.104831752C>TCA374324901ABCA1c.1585G>A (p.Glu529Lys)
c.1405G>A (p.Glu469Lys)
c.1660G>A (p.Glu554Lys)
c.1222G>A (p.Glu408Lys)
c.1522G>A (p.Glu508Lys)
n.1973G>A
 ClinVar gnomAD v4
9g.104831753A=CA1869925800ABCA1c.1584T= (p.Asp528=)
c.1404T= (p.Asp468=)
c.1659T= (p.Asp553=)
c.1221T= (p.Asp407=)
c.1521T= (p.Asp507=)
n.1972T=
9g.104831753A>CCA374324903ABCA1c.1584T>G (p.Asp528Glu)
c.1404T>G (p.Asp468Glu)
c.1659T>G (p.Asp553Glu)
c.1221T>G (p.Asp407Glu)
c.1521T>G (p.Asp507Glu)
n.1972T>G
 gnomAD v4
9g.104831753A>GCA466512980ABCA1c.1584T>C (p.Asp528=)
c.1404T>C (p.Asp468=)
c.1659T>C (p.Asp553=)
c.1221T>C (p.Asp407=)
c.1521T>C (p.Asp507=)
n.1972T>C
 gnomAD v4
9g.104831753A>TCA374324905ABCA1c.1584T>A (p.Asp528Glu)
c.1404T>A (p.Asp468Glu)
c.1659T>A (p.Asp553Glu)
c.1221T>A (p.Asp407Glu)
c.1521T>A (p.Asp507Glu)
n.1972T>A
 dbSNP gnomAD v4
9g.104831754T>ACA374324909ABCA1c.1583A>T (p.Asp528Val)
c.1403A>T (p.Asp468Val)
c.1658A>T (p.Asp553Val)
c.1220A>T (p.Asp407Val)
c.1520A>T (p.Asp507Val)
n.1971A>T
 gnomAD v4
9g.104831754T>CCA374324911ABCA1c.1583A>G (p.Asp528Gly)
c.1403A>G (p.Asp468Gly)
c.1658A>G (p.Asp553Gly)
c.1220A>G (p.Asp407Gly)
c.1520A>G (p.Asp507Gly)
n.1971A>G
9g.104831754T>GCA374324913ABCA1c.1583A>C (p.Asp528Ala)
c.1403A>C (p.Asp468Ala)
c.1658A>C (p.Asp553Ala)
c.1220A>C (p.Asp407Ala)
c.1520A>C (p.Asp507Ala)
n.1971A>C
9g.104831755C>ACA374324916ABCA1c.1582G>T (p.Asp528Tyr)
c.1402G>T (p.Asp468Tyr)
c.1657G>T (p.Asp553Tyr)
c.1219G>T (p.Asp407Tyr)
c.1519G>T (p.Asp507Tyr)
n.1970G>T
9g.104831755C>GCA374324919ABCA1c.1582G>C (p.Asp528His)
c.1402G>C (p.Asp468His)
c.1657G>C (p.Asp553His)
c.1219G>C (p.Asp407His)
c.1519G>C (p.Asp507His)
n.1970G>C
9g.104831755C>TCA374324917ABCA1c.1582G>A (p.Asp528Asn)
c.1402G>A (p.Asp468Asn)
c.1657G>A (p.Asp553Asn)
c.1219G>A (p.Asp407Asn)
c.1519G>A (p.Asp507Asn)
n.1970G>A
9g.104831756C>ACA466512998ABCA1c.1581G>T (p.Leu527=)
c.1401G>T (p.Leu467=)
c.1656G>T (p.Leu552=)
c.1218G>T (p.Leu406=)
c.1518G>T (p.Leu506=)
n.1969G>T
9g.104831756C=CA1869925806ABCA1c.1581G= (p.Leu527=)
c.1401G= (p.Leu467=)
c.1656G= (p.Leu552=)
c.1218G= (p.Leu406=)
c.1518G= (p.Leu506=)
n.1969G=
9g.104831756C>GCA466513000ABCA1c.1581G>C (p.Leu527=)
c.1401G>C (p.Leu467=)
c.1656G>C (p.Leu552=)
c.1218G>C (p.Leu406=)
c.1518G>C (p.Leu506=)
n.1969G>C
9g.104831756C>TCA466513002ABCA1c.1581G>A (p.Leu527=)
c.1401G>A (p.Leu467=)
c.1656G>A (p.Leu552=)
c.1218G>A (p.Leu406=)
c.1518G>A (p.Leu506=)
n.1969G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104831757A>CCA374324922ABCA1c.1580T>G (p.Leu527Arg)
c.1400T>G (p.Leu467Arg)
c.1655T>G (p.Leu552Arg)
c.1217T>G (p.Leu406Arg)
c.1517T>G (p.Leu506Arg)
n.1968T>G
9g.104831757A>GCA374324923ABCA1c.1580T>C (p.Leu527Pro)
c.1400T>C (p.Leu467Pro)
c.1655T>C (p.Leu552Pro)
c.1217T>C (p.Leu406Pro)
c.1517T>C (p.Leu506Pro)
n.1968T>C
9g.104831757A>TCA374324926ABCA1c.1580T>A (p.Leu527Gln)
c.1400T>A (p.Leu467Gln)
c.1655T>A (p.Leu552Gln)
c.1217T>A (p.Leu406Gln)
c.1517T>A (p.Leu506Gln)
n.1968T>A
9g.104831758G>ACA466513009ABCA1c.1579C>T (p.Leu527=)
c.1399C>T (p.Leu467=)
c.1654C>T (p.Leu552=)
c.1216C>T (p.Leu406=)
c.1516C>T (p.Leu506=)
n.1967C>T
9g.104831758G>CCA374324928ABCA1c.1579C>G (p.Leu527Val)
c.1399C>G (p.Leu467Val)
c.1654C>G (p.Leu552Val)
c.1216C>G (p.Leu406Val)
c.1516C>G (p.Leu506Val)
n.1967C>G
9g.104831758G>TCA374324930ABCA1c.1579C>A (p.Leu527Met)
c.1399C>A (p.Leu467Met)
c.1654C>A (p.Leu552Met)
c.1216C>A (p.Leu406Met)
c.1516C>A (p.Leu506Met)
n.1967C>A
9g.104831759C>ACA466513015ABCA1c.1578G>T (p.Leu526=)
c.1398G>T (p.Leu466=)
c.1653G>T (p.Leu551=)
c.1215G>T (p.Leu405=)
c.1515G>T (p.Leu505=)
n.1966G>T
9g.104831759C=CA1869925811ABCA1c.1578G= (p.Leu526=)
c.1398G= (p.Leu466=)
c.1653G= (p.Leu551=)
c.1215G= (p.Leu405=)
c.1515G= (p.Leu505=)
n.1966G=
9g.104831759C>GCA466513017ABCA1c.1578G>C (p.Leu526=)
c.1398G>C (p.Leu466=)
c.1653G>C (p.Leu551=)
c.1215G>C (p.Leu405=)
c.1515G>C (p.Leu505=)
n.1966G>C
 dbSNP
9g.104831759C>TCA466513013ABCA1c.1578G>A (p.Leu526=)
c.1398G>A (p.Leu466=)
c.1653G>A (p.Leu551=)
c.1215G>A (p.Leu405=)
c.1515G>A (p.Leu505=)
n.1966G>A
9g.104831760A=CA1869925817ABCA1c.1577T= (p.Leu526=)
c.1397T= (p.Leu466=)
c.1652T= (p.Leu551=)
c.1214T= (p.Leu405=)
c.1514T= (p.Leu505=)
n.1965T=
9g.104831760A>CCA374324931ABCA1c.1577T>G (p.Leu526Arg)
c.1397T>G (p.Leu466Arg)
c.1652T>G (p.Leu551Arg)
c.1214T>G (p.Leu405Arg)
c.1514T>G (p.Leu505Arg)
n.1965T>G
9g.104831760A>GCA374324933ABCA1c.1577T>C (p.Leu526Pro)
c.1397T>C (p.Leu466Pro)
c.1652T>C (p.Leu551Pro)
c.1214T>C (p.Leu405Pro)
c.1514T>C (p.Leu505Pro)
n.1965T>C
 dbSNP gnomAD v4
9g.104831760A>TCA374324935ABCA1c.1577T>A (p.Leu526Gln)
c.1397T>A (p.Leu466Gln)
c.1652T>A (p.Leu551Gln)
c.1214T>A (p.Leu405Gln)
c.1514T>A (p.Leu505Gln)
n.1965T>A
9g.104831761G>ACA466513026ABCA1c.1576C>T (p.Leu526=)
c.1396C>T (p.Leu466=)
c.1651C>T (p.Leu551=)
c.1213C>T (p.Leu405=)
c.1513C>T (p.Leu505=)
n.1964C>T
9g.104831761G>CCA374324937ABCA1c.1576C>G (p.Leu526Val)
c.1396C>G (p.Leu466Val)
c.1651C>G (p.Leu551Val)
c.1213C>G (p.Leu405Val)
c.1513C>G (p.Leu505Val)
n.1964C>G
9g.104831761G>TCA374324940ABCA1c.1576C>A (p.Leu526Met)
c.1396C>A (p.Leu466Met)
c.1651C>A (p.Leu551Met)
c.1213C>A (p.Leu405Met)
c.1513C>A (p.Leu505Met)
n.1964C>A
9g.104831762C>ACA374324945ABCA1c.1575G>T (p.Glu525Asp)
c.1395G>T (p.Glu465Asp)
c.1650G>T (p.Glu550Asp)
c.1212G>T (p.Glu404Asp)
c.1512G>T (p.Glu504Asp)
n.1963G>T
9g.104831762C=CA1869925831ABCA1c.1575G= (p.Glu525=)
c.1395G= (p.Glu465=)
c.1650G= (p.Glu550=)
c.1212G= (p.Glu404=)
c.1512G= (p.Glu504=)
n.1963G=
9g.104831762C>GCA374324942ABCA1c.1575G>C (p.Glu525Asp)
c.1395G>C (p.Glu465Asp)
c.1650G>C (p.Glu550Asp)
c.1212G>C (p.Glu404Asp)
c.1512G>C (p.Glu504Asp)
n.1963G>C
9g.104831762C>TCA466513032ABCA1c.1575G>A (p.Glu525=)
c.1395G>A (p.Glu465=)
c.1650G>A (p.Glu550=)
c.1212G>A (p.Glu404=)
c.1512G>A (p.Glu504=)
n.1963G>A
 dbSNP gnomAD v4
9g.104831763T>ACA374324947ABCA1c.1574A>T (p.Glu525Val)
c.1394A>T (p.Glu465Val)
c.1649A>T (p.Glu550Val)
c.1211A>T (p.Glu404Val)
c.1511A>T (p.Glu504Val)
n.1962A>T
9g.104831763T>CCA374324949ABCA1c.1574A>G (p.Glu525Gly)
c.1394A>G (p.Glu465Gly)
c.1649A>G (p.Glu550Gly)
c.1211A>G (p.Glu404Gly)
c.1511A>G (p.Glu504Gly)
n.1962A>G
9g.104831763T>GCA374324951ABCA1c.1574A>C (p.Glu525Ala)
c.1394A>C (p.Glu465Ala)
c.1649A>C (p.Glu550Ala)
c.1211A>C (p.Glu404Ala)
c.1511A>C (p.Glu504Ala)
n.1962A>C
9g.104831764C>ACA374324954ABCA1c.1573G>T (p.Glu525Ter)
c.1393G>T (p.Glu465Ter)
c.1648G>T (p.Glu550Ter)
c.1210G>T (p.Glu404Ter)
c.1510G>T (p.Glu504Ter)
n.1961G>T
9g.104831764C>GCA374324956ABCA1c.1573G>C (p.Glu525Gln)
c.1393G>C (p.Glu465Gln)
c.1648G>C (p.Glu550Gln)
c.1210G>C (p.Glu404Gln)
c.1510G>C (p.Glu504Gln)
n.1961G>C
9g.104831764C>TCA374324958ABCA1c.1573G>A (p.Glu525Lys)
c.1393G>A (p.Glu465Lys)
c.1648G>A (p.Glu550Lys)
c.1210G>A (p.Glu404Lys)
c.1510G>A (p.Glu504Lys)
n.1961G>A
9g.104831765C>ACA374324961ABCA1c.1572G>T (p.Met524Ile)
c.1392G>T (p.Met464Ile)
c.1647G>T (p.Met549Ile)
c.1209G>T (p.Met403Ile)
c.1509G>T (p.Met503Ile)
n.1960G>T
9g.104831765C>GCA374324963ABCA1c.1572G>C (p.Met524Ile)
c.1392G>C (p.Met464Ile)
c.1647G>C (p.Met549Ile)
c.1209G>C (p.Met403Ile)
c.1509G>C (p.Met503Ile)
n.1960G>C
9g.104831765C>TCA374324965ABCA1c.1572G>A (p.Met524Ile)
c.1392G>A (p.Met464Ile)
c.1647G>A (p.Met549Ile)
c.1209G>A (p.Met403Ile)
c.1509G>A (p.Met503Ile)
n.1960G>A
9g.104831766A=CA1869925835ABCA1c.1571T= (p.Met524=)
c.1391T= (p.Met464=)
c.1646T= (p.Met549=)
c.1208T= (p.Met403=)
c.1508T= (p.Met503=)
n.1959T=
9g.104831766A>CCA374324968ABCA1c.1571T>G (p.Met524Arg)
c.1391T>G (p.Met464Arg)
c.1646T>G (p.Met549Arg)
c.1208T>G (p.Met403Arg)
c.1508T>G (p.Met503Arg)
n.1959T>G
 gnomAD v4
9g.104831766A>GCA197397048ABCA1c.1571T>C (p.Met524Thr)
c.1391T>C (p.Met464Thr)
c.1646T>C (p.Met549Thr)
c.1208T>C (p.Met403Thr)
c.1508T>C (p.Met503Thr)
n.1959T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831766A>TCA374324972ABCA1c.1571T>A (p.Met524Lys)
c.1391T>A (p.Met464Lys)
c.1646T>A (p.Met549Lys)
c.1208T>A (p.Met403Lys)
c.1508T>A (p.Met503Lys)
n.1959T>A
9g.104831767T>ACA374324977ABCA1c.1570A>T (p.Met524Leu)
c.1390A>T (p.Met464Leu)
c.1645A>T (p.Met549Leu)
c.1207A>T (p.Met403Leu)
c.1507A>T (p.Met503Leu)
n.1958A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104831767T>CCA197397051ABCA1c.1570A>G (p.Met524Val)
c.1390A>G (p.Met464Val)
c.1645A>G (p.Met549Val)
c.1207A>G (p.Met403Val)
c.1507A>G (p.Met503Val)
n.1958A>G
 dbSNP gnomAD v4
9g.104831767T>GCA374324974ABCA1c.1570A>C (p.Met524Leu)
c.1390A>C (p.Met464Leu)
c.1645A>C (p.Met549Leu)
c.1207A>C (p.Met403Leu)
c.1507A>C (p.Met503Leu)
n.1958A>C
9g.104831767T=CA1869925844ABCA1c.1570A= (p.Met524=)
c.1390A= (p.Met464=)
c.1645A= (p.Met549=)
c.1207A= (p.Met403=)
c.1507A= (p.Met503=)
n.1958A=
9g.104831768G>ACA466513063ABCA1c.1569C>T (p.Ser523=)
c.1389C>T (p.Ser463=)
c.1644C>T (p.Ser548=)
c.1206C>T (p.Ser402=)
c.1506C>T (p.Ser502=)
n.1957C>T
9g.104831768G>CCA466513065ABCA1c.1569C>G (p.Ser523=)
c.1389C>G (p.Ser463=)
c.1644C>G (p.Ser548=)
c.1206C>G (p.Ser402=)
c.1506C>G (p.Ser502=)
n.1957C>G
9g.104831768G>TCA466513067ABCA1c.1569C>A (p.Ser523=)
c.1389C>A (p.Ser463=)
c.1644C>A (p.Ser548=)
c.1206C>A (p.Ser402=)
c.1506C>A (p.Ser502=)
n.1957C>A
9g.104831769G>ACA5168969ABCA1c.1568C>T (p.Ser523Phe)
c.1388C>T (p.Ser463Phe)
c.1643C>T (p.Ser548Phe)
c.1205C>T (p.Ser402Phe)
c.1505C>T (p.Ser502Phe)
n.1956C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831769G>CCA374324981ABCA1c.1568C>G (p.Ser523Cys)
c.1388C>G (p.Ser463Cys)
c.1643C>G (p.Ser548Cys)
c.1205C>G (p.Ser402Cys)
c.1505C>G (p.Ser502Cys)
n.1956C>G
9g.104831769G=CA1869925854ABCA1c.1568C= (p.Ser523=)
c.1388C= (p.Ser463=)
c.1643C= (p.Ser548=)
c.1205C= (p.Ser402=)
c.1505C= (p.Ser502=)
n.1956C=
9g.104831769G>TCA374324983ABCA1c.1568C>A (p.Ser523Tyr)
c.1388C>A (p.Ser463Tyr)
c.1643C>A (p.Ser548Tyr)
c.1205C>A (p.Ser402Tyr)
c.1505C>A (p.Ser502Tyr)
n.1956C>A
 gnomAD v4
9g.104831770A>CCA374324985ABCA1c.1567T>G (p.Ser523Ala)
c.1387T>G (p.Ser463Ala)
c.1642T>G (p.Ser548Ala)
c.1204T>G (p.Ser402Ala)
c.1504T>G (p.Ser502Ala)
n.1955T>G
9g.104831770A>GCA374324987ABCA1c.1567T>C (p.Ser523Pro)
c.1387T>C (p.Ser463Pro)
c.1642T>C (p.Ser548Pro)
c.1204T>C (p.Ser402Pro)
c.1504T>C (p.Ser502Pro)
n.1955T>C
9g.104831770A>TCA374324989ABCA1c.1567T>A (p.Ser523Thr)
c.1387T>A (p.Ser463Thr)
c.1642T>A (p.Ser548Thr)
c.1204T>A (p.Ser402Thr)
c.1504T>A (p.Ser502Thr)
n.1955T>A
9g.104831771C>ACA374324992ABCA1c.1566G>T (p.Lys522Asn)
c.1386G>T (p.Lys462Asn)
c.1641G>T (p.Lys547Asn)
c.1203G>T (p.Lys401Asn)
c.1503G>T (p.Lys501Asn)
n.1954G>T
 COSMIC
9g.104831771C=CA1869925863ABCA1c.1566G= (p.Lys522=)
c.1386G= (p.Lys462=)
c.1641G= (p.Lys547=)
c.1203G= (p.Lys401=)
c.1503G= (p.Lys501=)
n.1954G=
9g.104831771C>GCA374324994ABCA1c.1566G>C (p.Lys522Asn)
c.1386G>C (p.Lys462Asn)
c.1641G>C (p.Lys547Asn)
c.1203G>C (p.Lys401Asn)
c.1503G>C (p.Lys501Asn)
n.1954G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831771C>TCA5168970ABCA1c.1566G>A (p.Lys522=)
c.1386G>A (p.Lys462=)
c.1641G>A (p.Lys547=)
c.1203G>A (p.Lys401=)
c.1503G>A (p.Lys501=)
n.1954G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831772T>ACA374324997ABCA1c.1565A>T (p.Lys522Met)
c.1385A>T (p.Lys462Met)
c.1640A>T (p.Lys547Met)
c.1202A>T (p.Lys401Met)
c.1502A>T (p.Lys501Met)
n.1953A>T
9g.104831772T>CCA374325000ABCA1c.1565A>G (p.Lys522Arg)
c.1385A>G (p.Lys462Arg)
c.1640A>G (p.Lys547Arg)
c.1202A>G (p.Lys401Arg)
c.1502A>G (p.Lys501Arg)
n.1953A>G
 gnomAD v4
9g.104831772T>GCA197397054ABCA1c.1565A>C (p.Lys522Thr)
c.1385A>C (p.Lys462Thr)
c.1640A>C (p.Lys547Thr)
c.1202A>C (p.Lys401Thr)
c.1502A>C (p.Lys501Thr)
n.1953A>C
 dbSNP
9g.104831772T=CA1869925870ABCA1c.1565A= (p.Lys522=)
c.1385A= (p.Lys462=)
c.1640A= (p.Lys547=)
c.1202A= (p.Lys401=)
c.1502A= (p.Lys501=)
n.1953A=
9g.104831775_104831777delCA2691053462ABCA1c.1563_1565del (p.Asn521del)
c.1383_1385del (p.Asn461del)
c.1638_1640del (p.Asn546del)
c.1200_1202del (p.Asn400del)
c.1500_1502del (p.Asn500del)
n.1951_1953del
 gnomAD v4
9g.104831773T>ACA374325007ABCA1c.1564A>T (p.Lys522Ter)
c.1384A>T (p.Lys462Ter)
c.1639A>T (p.Lys547Ter)
c.1201A>T (p.Lys401Ter)
c.1501A>T (p.Lys501Ter)
n.1952A>T
9g.104831773T>CCA374325005ABCA1c.1564A>G (p.Lys522Glu)
c.1384A>G (p.Lys462Glu)
c.1639A>G (p.Lys547Glu)
c.1201A>G (p.Lys401Glu)
c.1501A>G (p.Lys501Glu)
n.1952A>G
9g.104831773T>GCA374325003ABCA1c.1564A>C (p.Lys522Gln)
c.1384A>C (p.Lys462Gln)
c.1639A>C (p.Lys547Gln)
c.1201A>C (p.Lys401Gln)
c.1501A>C (p.Lys501Gln)
n.1952A>C
9g.104831774G>ACA466513096ABCA1c.1563C>T (p.Asn521=)
c.1383C>T (p.Asn461=)
c.1638C>T (p.Asn546=)
c.1200C>T (p.Asn400=)
c.1500C>T (p.Asn500=)
n.1951C>T
9g.104831774G>CCA374325010ABCA1c.1563C>G (p.Asn521Lys)
c.1383C>G (p.Asn461Lys)
c.1638C>G (p.Asn546Lys)
c.1200C>G (p.Asn400Lys)
c.1500C>G (p.Asn500Lys)
n.1951C>G
 gnomAD v4
9g.104831774G>TCA374325012ABCA1c.1563C>A (p.Asn521Lys)
c.1383C>A (p.Asn461Lys)
c.1638C>A (p.Asn546Lys)
c.1200C>A (p.Asn400Lys)
c.1500C>A (p.Asn500Lys)
n.1951C>A
9g.104831775T>ACA374325014ABCA1c.1562A>T (p.Asn521Ile)
c.1382A>T (p.Asn461Ile)
c.1637A>T (p.Asn546Ile)
c.1199A>T (p.Asn400Ile)
c.1499A>T (p.Asn500Ile)
n.1950A>T
9g.104831775T>CCA374325016ABCA1c.1562A>G (p.Asn521Ser)
c.1382A>G (p.Asn461Ser)
c.1637A>G (p.Asn546Ser)
c.1199A>G (p.Asn400Ser)
c.1499A>G (p.Asn500Ser)
n.1950A>G
 gnomAD v4
9g.104831775T>GCA374325017ABCA1c.1562A>C (p.Asn521Thr)
c.1382A>C (p.Asn461Thr)
c.1637A>C (p.Asn546Thr)
c.1199A>C (p.Asn400Thr)
c.1499A>C (p.Asn500Thr)
n.1950A>C
9g.104831776T>ACA374325021ABCA1c.1561A>T (p.Asn521Tyr)
c.1381A>T (p.Asn461Tyr)
c.1636A>T (p.Asn546Tyr)
c.1198A>T (p.Asn400Tyr)
c.1498A>T (p.Asn500Tyr)
n.1949A>T
9g.104831776T>CCA374325023ABCA1c.1561A>G (p.Asn521Asp)
c.1381A>G (p.Asn461Asp)
c.1636A>G (p.Asn546Asp)
c.1198A>G (p.Asn400Asp)
c.1498A>G (p.Asn500Asp)
n.1949A>G
9g.104831776T>GCA374325024ABCA1c.1561A>C (p.Asn521His)
c.1381A>C (p.Asn461His)
c.1636A>C (p.Asn546His)
c.1198A>C (p.Asn400His)
c.1498A>C (p.Asn500His)
n.1949A>C
9g.104831777G>ACA466513113ABCA1c.1560C>T (p.Ile520=)
c.1380C>T (p.Ile460=)
c.1635C>T (p.Ile545=)
c.1197C>T (p.Ile399=)
c.1497C>T (p.Ile499=)
n.1948C>T
9g.104831777G>CCA374325027ABCA1c.1560C>G (p.Ile520Met)
c.1380C>G (p.Ile460Met)
c.1635C>G (p.Ile545Met)
c.1197C>G (p.Ile399Met)
c.1497C>G (p.Ile499Met)
n.1948C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831777G=CA1869925875ABCA1c.1560C= (p.Ile520=)
c.1380C= (p.Ile460=)
c.1635C= (p.Ile545=)
c.1197C= (p.Ile399=)
c.1497C= (p.Ile499=)
n.1948C=
9g.104831777G>TCA466513117ABCA1c.1560C>A (p.Ile520=)
c.1380C>A (p.Ile460=)
c.1635C>A (p.Ile545=)
c.1197C>A (p.Ile399=)
c.1497C>A (p.Ile499=)
n.1948C>A
9g.104831778A>CCA374325030ABCA1c.1559T>G (p.Ile520Ser)
c.1379T>G (p.Ile460Ser)
c.1634T>G (p.Ile545Ser)
c.1196T>G (p.Ile399Ser)
c.1496T>G (p.Ile499Ser)
n.1947T>G
9g.104831778A>GCA374325032ABCA1c.1559T>C (p.Ile520Thr)
c.1379T>C (p.Ile460Thr)
c.1634T>C (p.Ile545Thr)
c.1196T>C (p.Ile399Thr)
c.1496T>C (p.Ile499Thr)
n.1947T>C
9g.104831778A>TCA374325034ABCA1c.1559T>A (p.Ile520Asn)
c.1379T>A (p.Ile460Asn)
c.1634T>A (p.Ile545Asn)
c.1196T>A (p.Ile399Asn)
c.1496T>A (p.Ile499Asn)
n.1947T>A
9g.104831779T>ACA374325037ABCA1c.1558A>T (p.Ile520Phe)
c.1378A>T (p.Ile460Phe)
c.1633A>T (p.Ile545Phe)
c.1195A>T (p.Ile399Phe)
c.1495A>T (p.Ile499Phe)
n.1946A>T
9g.104831779T>CCA374325039ABCA1c.1558A>G (p.Ile520Val)
c.1378A>G (p.Ile460Val)
c.1633A>G (p.Ile545Val)
c.1195A>G (p.Ile399Val)
c.1495A>G (p.Ile499Val)
n.1946A>G
 gnomAD v4
9g.104831779T>GCA374325041ABCA1c.1558A>C (p.Ile520Leu)
c.1378A>C (p.Ile460Leu)
c.1633A>C (p.Ile545Leu)
c.1195A>C (p.Ile399Leu)
c.1495A>C (p.Ile499Leu)
n.1946A>C
9g.104831780G>ACA466513129ABCA1c.1557C>T (p.Leu519=)
c.1377C>T (p.Leu459=)
c.1632C>T (p.Leu544=)
c.1194C>T (p.Leu398=)
c.1494C>T (p.Leu498=)
n.1945C>T
9g.104831780G>CCA466513132ABCA1c.1557C>G (p.Leu519=)
c.1377C>G (p.Leu459=)
c.1632C>G (p.Leu544=)
c.1194C>G (p.Leu398=)
c.1494C>G (p.Leu498=)
n.1945C>G
9g.104831780G>TCA466513131ABCA1c.1557C>A (p.Leu519=)
c.1377C>A (p.Leu459=)
c.1632C>A (p.Leu544=)
c.1194C>A (p.Leu398=)
c.1494C>A (p.Leu498=)
n.1945C>A
9g.104831781A>CCA374325044ABCA1c.1556T>G (p.Leu519Arg)
c.1376T>G (p.Leu459Arg)
c.1631T>G (p.Leu544Arg)
c.1193T>G (p.Leu398Arg)
c.1493T>G (p.Leu498Arg)
n.1944T>G
9g.104831781A>GCA374325048ABCA1c.1556T>C (p.Leu519Pro)
c.1376T>C (p.Leu459Pro)
c.1631T>C (p.Leu544Pro)
c.1193T>C (p.Leu398Pro)
c.1493T>C (p.Leu498Pro)
n.1944T>C
9g.104831781A>TCA374325046ABCA1c.1556T>A (p.Leu519His)
c.1376T>A (p.Leu459His)
c.1631T>A (p.Leu544His)
c.1193T>A (p.Leu398His)
c.1493T>A (p.Leu498His)
n.1944T>A
9g.104831782G>ACA374325051ABCA1c.1555C>T (p.Leu519Phe)
c.1375C>T (p.Leu459Phe)
c.1630C>T (p.Leu544Phe)
c.1192C>T (p.Leu398Phe)
c.1492C>T (p.Leu498Phe)
n.1943C>T
9g.104831782G>CCA374325053ABCA1c.1555C>G (p.Leu519Val)
c.1375C>G (p.Leu459Val)
c.1630C>G (p.Leu544Val)
c.1192C>G (p.Leu398Val)
c.1492C>G (p.Leu498Val)
n.1943C>G
9g.104831782G>TCA374325055ABCA1c.1555C>A (p.Leu519Ile)
c.1375C>A (p.Leu459Ile)
c.1630C>A (p.Leu544Ile)
c.1192C>A (p.Leu398Ile)
c.1492C>A (p.Leu498Ile)
n.1943C>A
9g.104831783C>ACA374325058ABCA1c.1554G>T (p.Trp518Cys)
c.1374G>T (p.Trp458Cys)
c.1629G>T (p.Trp543Cys)
c.1191G>T (p.Trp397Cys)
c.1491G>T (p.Trp497Cys)
n.1942G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831783C=CA1869925878ABCA1c.1554G= (p.Trp518=)
c.1374G= (p.Trp458=)
c.1629G= (p.Trp543=)
c.1191G= (p.Trp397=)
c.1491G= (p.Trp497=)
n.1942G=
9g.104831783C>GCA374325060ABCA1c.1554G>C (p.Trp518Cys)
c.1374G>C (p.Trp458Cys)
c.1629G>C (p.Trp543Cys)
c.1191G>C (p.Trp397Cys)
c.1491G>C (p.Trp497Cys)
n.1942G>C
9g.104831783C>TCA374325062ABCA1c.1554G>A (p.Trp518Ter)
c.1374G>A (p.Trp458Ter)
c.1629G>A (p.Trp543Ter)
c.1191G>A (p.Trp397Ter)
c.1491G>A (p.Trp497Ter)
n.1942G>A
9g.104831784C>ACA374325064ABCA1c.1553G>T (p.Trp518Leu)
c.1373G>T (p.Trp458Leu)
c.1628G>T (p.Trp543Leu)
c.1190G>T (p.Trp397Leu)
c.1490G>T (p.Trp497Leu)
n.1941G>T
9g.104831784C>GCA374325066ABCA1c.1553G>C (p.Trp518Ser)
c.1373G>C (p.Trp458Ser)
c.1628G>C (p.Trp543Ser)
c.1190G>C (p.Trp397Ser)
c.1490G>C (p.Trp497Ser)
n.1941G>C
9g.104831784C>TCA374325068ABCA1c.1553G>A (p.Trp518Ter)
c.1373G>A (p.Trp458Ter)
c.1628G>A (p.Trp543Ter)
c.1190G>A (p.Trp397Ter)
c.1490G>A (p.Trp497Ter)
n.1941G>A
9g.104831785A>CCA374325072ABCA1c.1552T>G (p.Trp518Gly)
c.1372T>G (p.Trp458Gly)
c.1627T>G (p.Trp543Gly)
c.1189T>G (p.Trp397Gly)
c.1489T>G (p.Trp497Gly)
n.1940T>G
9g.104831785A>GCA374325073ABCA1c.1552T>C (p.Trp518Arg)
c.1372T>C (p.Trp458Arg)
c.1627T>C (p.Trp543Arg)
c.1189T>C (p.Trp397Arg)
c.1489T>C (p.Trp497Arg)
n.1940T>C
9g.104831785A>TCA374325075ABCA1c.1552T>A (p.Trp518Arg)
c.1372T>A (p.Trp458Arg)
c.1627T>A (p.Trp543Arg)
c.1189T>A (p.Trp397Arg)
c.1489T>A (p.Trp497Arg)
n.1940T>A
9g.104831786G>ACA466513172ABCA1c.1551C>T (p.Val517=)
c.1371C>T (p.Val457=)
c.1626C>T (p.Val542=)
c.1188C>T (p.Val396=)
c.1488C>T (p.Val496=)
n.1939C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831786G>CCA466513174ABCA1c.1551C>G (p.Val517=)
c.1371C>G (p.Val457=)
c.1626C>G (p.Val542=)
c.1188C>G (p.Val396=)
c.1488C>G (p.Val496=)
n.1939C>G
9g.104831786G=CA1869925881ABCA1c.1551C= (p.Val517=)
c.1371C= (p.Val457=)
c.1626C= (p.Val542=)
c.1188C= (p.Val396=)
c.1488C= (p.Val496=)
n.1939C=
9g.104831786G>TCA466513177ABCA1c.1551C>A (p.Val517=)
c.1371C>A (p.Val457=)
c.1626C>A (p.Val542=)
c.1188C>A (p.Val396=)
c.1488C>A (p.Val496=)
n.1939C>A
9g.104831787A>CCA374325078ABCA1c.1550T>G (p.Val517Gly)
c.1370T>G (p.Val457Gly)
c.1625T>G (p.Val542Gly)
c.1187T>G (p.Val396Gly)
c.1487T>G (p.Val496Gly)
n.1938T>G
9g.104831787A>GCA374325081ABCA1c.1550T>C (p.Val517Ala)
c.1370T>C (p.Val457Ala)
c.1625T>C (p.Val542Ala)
c.1187T>C (p.Val396Ala)
c.1487T>C (p.Val496Ala)
n.1938T>C
9g.104831787A>TCA374325080ABCA1c.1550T>A (p.Val517Asp)
c.1370T>A (p.Val457Asp)
c.1625T>A (p.Val542Asp)
c.1187T>A (p.Val396Asp)
c.1487T>A (p.Val496Asp)
n.1938T>A
9g.104831788C>ACA374325083ABCA1c.1549G>T (p.Val517Phe)
c.1369G>T (p.Val457Phe)
c.1624G>T (p.Val542Phe)
c.1186G>T (p.Val396Phe)
c.1486G>T (p.Val496Phe)
n.1937G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831788C=CA1869925888ABCA1c.1549G= (p.Val517=)
c.1369G= (p.Val457=)
c.1624G= (p.Val542=)
c.1186G= (p.Val396=)
c.1486G= (p.Val496=)
n.1937G=
9g.104831788C>GCA374325084ABCA1c.1549G>C (p.Val517Leu)
c.1369G>C (p.Val457Leu)
c.1624G>C (p.Val542Leu)
c.1186G>C (p.Val396Leu)
c.1486G>C (p.Val496Leu)
n.1937G>C
 gnomAD v4
9g.104831788C>TCA374325087ABCA1c.1549G>A (p.Val517Ile)
c.1369G>A (p.Val457Ile)
c.1624G>A (p.Val542Ile)
c.1186G>A (p.Val396Ile)
c.1486G>A (p.Val496Ile)
n.1937G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104831789T>ACA374325090ABCA1c.1548A>T (p.Glu516Asp)
c.1368A>T (p.Glu456Asp)
c.1623A>T (p.Glu541Asp)
c.1185A>T (p.Glu395Asp)
c.1485A>T (p.Glu495Asp)
n.1936A>T
9g.104831789T>CCA466513190ABCA1c.1548A>G (p.Glu516=)
c.1368A>G (p.Glu456=)
c.1623A>G (p.Glu541=)
c.1185A>G (p.Glu395=)
c.1485A>G (p.Glu495=)
n.1936A>G
9g.104831789T>GCA374325091ABCA1c.1548A>C (p.Glu516Asp)
c.1368A>C (p.Glu456Asp)
c.1623A>C (p.Glu541Asp)
c.1185A>C (p.Glu395Asp)
c.1485A>C (p.Glu495Asp)
n.1936A>C
9g.104831790T>ACA374325094ABCA1c.1547A>T (p.Glu516Val)
c.1367A>T (p.Glu456Val)
c.1622A>T (p.Glu541Val)
c.1184A>T (p.Glu395Val)
c.1484A>T (p.Glu495Val)
n.1935A>T
9g.104831790T>CCA374325096ABCA1c.1547A>G (p.Glu516Gly)
c.1367A>G (p.Glu456Gly)
c.1622A>G (p.Glu541Gly)
c.1184A>G (p.Glu395Gly)
c.1484A>G (p.Glu495Gly)
n.1935A>G
9g.104831790T>GCA374325098ABCA1c.1547A>C (p.Glu516Ala)
c.1367A>C (p.Glu456Ala)
c.1622A>C (p.Glu541Ala)
c.1184A>C (p.Glu395Ala)
c.1484A>C (p.Glu495Ala)
n.1935A>C
9g.104831791C>ACA197397057ABCA1c.1546G>T (p.Glu516Ter)
c.1366G>T (p.Glu456Ter)
c.1621G>T (p.Glu541Ter)
c.1183G>T (p.Glu395Ter)
c.1483G>T (p.Glu495Ter)
n.1934G>T
 dbSNP gnomAD v3 gnomAD v4
9g.104831791C=CA1869925892ABCA1c.1546G= (p.Glu516=)
c.1366G= (p.Glu456=)
c.1621G= (p.Glu541=)
c.1183G= (p.Glu395=)
c.1483G= (p.Glu495=)
n.1934G=
9g.104831791C>GCA374325102ABCA1c.1546G>C (p.Glu516Gln)
c.1366G>C (p.Glu456Gln)
c.1621G>C (p.Glu541Gln)
c.1183G>C (p.Glu395Gln)
c.1483G>C (p.Glu495Gln)
n.1934G>C
9g.104831791C>TCA374325104ABCA1c.1546G>A (p.Glu516Lys)
c.1366G>A (p.Glu456Lys)
c.1621G>A (p.Glu541Lys)
c.1183G>A (p.Glu395Lys)
c.1483G>A (p.Glu495Lys)
n.1934G>A
9g.104831792T>ACA466513207ABCA1c.1545A>T (p.Thr515=)
c.1365A>T (p.Thr455=)
c.1620A>T (p.Thr540=)
c.1182A>T (p.Thr394=)
c.1482A>T (p.Thr494=)
n.1933A>T
9g.104831792T>CCA466513208ABCA1c.1545A>G (p.Thr515=)
c.1365A>G (p.Thr455=)
c.1620A>G (p.Thr540=)
c.1182A>G (p.Thr394=)
c.1482A>G (p.Thr494=)
n.1933A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831792T>GCA466513213ABCA1c.1545A>C (p.Thr515=)
c.1365A>C (p.Thr455=)
c.1620A>C (p.Thr540=)
c.1182A>C (p.Thr394=)
c.1482A>C (p.Thr494=)
n.1933A>C
 gnomAD v4
9g.104831792T=CA1869925897ABCA1c.1545A= (p.Thr515=)
c.1365A= (p.Thr455=)
c.1620A= (p.Thr540=)
c.1182A= (p.Thr394=)
c.1482A= (p.Thr494=)
n.1933A=
9g.104831793G>ACA374325111ABCA1c.1544C>T (p.Thr515Ile)
c.1364C>T (p.Thr455Ile)
c.1619C>T (p.Thr540Ile)
c.1181C>T (p.Thr394Ile)
c.1481C>T (p.Thr494Ile)
n.1932C>T
9g.104831793G>CCA374325109ABCA1c.1544C>G (p.Thr515Arg)
c.1364C>G (p.Thr455Arg)
c.1619C>G (p.Thr540Arg)
c.1181C>G (p.Thr394Arg)
c.1481C>G (p.Thr494Arg)
n.1932C>G
9g.104831793G>TCA374325107ABCA1c.1544C>A (p.Thr515Lys)
c.1364C>A (p.Thr455Lys)
c.1619C>A (p.Thr540Lys)
c.1181C>A (p.Thr394Lys)
c.1481C>A (p.Thr494Lys)
n.1932C>A
9g.104831794T>ACA374325113ABCA1c.1543A>T (p.Thr515Ser)
c.1363A>T (p.Thr455Ser)
c.1618A>T (p.Thr540Ser)
c.1180A>T (p.Thr394Ser)
c.1480A>T (p.Thr494Ser)
n.1931A>T
9g.104831794T>CCA5168971ABCA1c.1543A>G (p.Thr515Ala)
c.1363A>G (p.Thr455Ala)
c.1618A>G (p.Thr540Ala)
c.1180A>G (p.Thr394Ala)
c.1480A>G (p.Thr494Ala)
n.1931A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831794T>GCA374325116ABCA1c.1543A>C (p.Thr515Pro)
c.1363A>C (p.Thr455Pro)
c.1618A>C (p.Thr540Pro)
c.1180A>C (p.Thr394Pro)
c.1480A>C (p.Thr494Pro)
n.1931A>C
9g.104831794T=CA1869925901ABCA1c.1543A= (p.Thr515=)
c.1363A= (p.Thr455=)
c.1618A= (p.Thr540=)
c.1180A= (p.Thr394=)
c.1480A= (p.Thr494=)
n.1931A=
9g.104831795T>ACA466513226ABCA1c.1542A>T (p.Ala514=)
c.1362A>T (p.Ala454=)
c.1617A>T (p.Ala539=)
c.1179A>T (p.Ala393=)
c.1479A>T (p.Ala493=)
n.1930A>T
9g.104831795T>CCA466513228ABCA1c.1542A>G (p.Ala514=)
c.1362A>G (p.Ala454=)
c.1617A>G (p.Ala539=)
c.1179A>G (p.Ala393=)
c.1479A>G (p.Ala493=)
n.1930A>G
9g.104831795T>GCA466513231ABCA1c.1542A>C (p.Ala514=)
c.1362A>C (p.Ala454=)
c.1617A>C (p.Ala539=)
c.1179A>C (p.Ala393=)
c.1479A>C (p.Ala493=)
n.1930A>C
9g.104831796G>ACA374325118ABCA1c.1541C>T (p.Ala514Val)
c.1361C>T (p.Ala454Val)
c.1616C>T (p.Ala539Val)
c.1178C>T (p.Ala393Val)
c.1478C>T (p.Ala493Val)
n.1929C>T
 ClinVar gnomAD v4
9g.104831796G>CCA374325120ABCA1c.1541C>G (p.Ala514Gly)
c.1361C>G (p.Ala454Gly)
c.1616C>G (p.Ala539Gly)
c.1178C>G (p.Ala393Gly)
c.1478C>G (p.Ala493Gly)
n.1929C>G
9g.104831796G>TCA374325122ABCA1c.1541C>A (p.Ala514Glu)
c.1361C>A (p.Ala454Glu)
c.1616C>A (p.Ala539Glu)
c.1178C>A (p.Ala393Glu)
c.1478C>A (p.Ala493Glu)
n.1929C>A
9g.104831797C>ACA374325125ABCA1c.1540G>T (p.Ala514Ser)
c.1360G>T (p.Ala454Ser)
c.1615G>T (p.Ala539Ser)
c.1177G>T (p.Ala393Ser)
c.1477G>T (p.Ala493Ser)
n.1928G>T
9g.104831797C>GCA374325127ABCA1c.1540G>C (p.Ala514Pro)
c.1360G>C (p.Ala454Pro)
c.1615G>C (p.Ala539Pro)
c.1177G>C (p.Ala393Pro)
c.1477G>C (p.Ala493Pro)
n.1928G>C
9g.104831797C>TCA374325129ABCA1c.1540G>A (p.Ala514Thr)
c.1360G>A (p.Ala454Thr)
c.1615G>A (p.Ala539Thr)
c.1177G>A (p.Ala393Thr)
c.1477G>A (p.Ala493Thr)
n.1928G>A
9g.104831798T>ACA466513245ABCA1c.1539A>T (p.Ile513=)
c.1359A>T (p.Ile453=)
c.1614A>T (p.Ile538=)
c.1176A>T (p.Ile392=)
c.1476A>T (p.Ile492=)
n.1927A>T
9g.104831798T>CCA374325131ABCA1c.1539A>G (p.Ile513Met)
c.1359A>G (p.Ile453Met)
c.1614A>G (p.Ile538Met)
c.1176A>G (p.Ile392Met)
c.1476A>G (p.Ile492Met)
n.1927A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831798T>GCA466513246ABCA1c.1539A>C (p.Ile513=)
c.1359A>C (p.Ile453=)
c.1614A>C (p.Ile538=)
c.1176A>C (p.Ile392=)
c.1476A>C (p.Ile492=)
n.1927A>C
9g.104831798T=CA1869925909ABCA1c.1539A= (p.Ile513=)
c.1359A= (p.Ile453=)
c.1614A= (p.Ile538=)
c.1176A= (p.Ile392=)
c.1476A= (p.Ile492=)
n.1927A=
9g.104831799A=CA1869925910ABCA1c.1538T= (p.Ile513=)
c.1358T= (p.Ile453=)
c.1613T= (p.Ile538=)
c.1175T= (p.Ile392=)
c.1475T= (p.Ile492=)
n.1926T=
9g.104831799A>CCA374325134ABCA1c.1538T>G (p.Ile513Arg)
c.1358T>G (p.Ile453Arg)
c.1613T>G (p.Ile538Arg)
c.1175T>G (p.Ile392Arg)
c.1475T>G (p.Ile492Arg)
n.1926T>G
9g.104831799A>GCA374325136ABCA1c.1538T>C (p.Ile513Thr)
c.1358T>C (p.Ile453Thr)
c.1613T>C (p.Ile538Thr)
c.1175T>C (p.Ile392Thr)
c.1475T>C (p.Ile492Thr)
n.1926T>C
9g.104831799A>TCA374325138ABCA1c.1538T>A (p.Ile513Lys)
c.1358T>A (p.Ile453Lys)
c.1613T>A (p.Ile538Lys)
c.1175T>A (p.Ile392Lys)
c.1475T>A (p.Ile492Lys)
n.1926T>A
 dbSNP gnomAD v2 gnomAD v4
9g.104831800T>ACA374325142ABCA1c.1537A>T (p.Ile513Leu)
c.1357A>T (p.Ile453Leu)
c.1612A>T (p.Ile538Leu)
c.1174A>T (p.Ile392Leu)
c.1474A>T (p.Ile492Leu)
n.1925A>T
9g.104831800T>CCA374325144ABCA1c.1537A>G (p.Ile513Val)
c.1357A>G (p.Ile453Val)
c.1612A>G (p.Ile538Val)
c.1174A>G (p.Ile392Val)
c.1474A>G (p.Ile492Val)
n.1925A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831800T>GCA374325141ABCA1c.1537A>C (p.Ile513Leu)
c.1357A>C (p.Ile453Leu)
c.1612A>C (p.Ile538Leu)
c.1174A>C (p.Ile392Leu)
c.1474A>C (p.Ile492Leu)
n.1925A>C
 ClinVar dbSNP gnomAD v4
9g.104831800T=CA1869925921ABCA1c.1537A= (p.Ile513=)
c.1357A= (p.Ile453=)
c.1612A= (p.Ile538=)
c.1174A= (p.Ile392=)
c.1474A= (p.Ile492=)
n.1925A=
9g.104831801G>ACA466513261ABCA1c.1536C>T (p.Pro512=)
c.1356C>T (p.Pro452=)
c.1611C>T (p.Pro537=)
c.1173C>T (p.Pro391=)
c.1473C>T (p.Pro491=)
n.1924C>T
9g.104831801G>CCA466513259ABCA1c.1536C>G (p.Pro512=)
c.1356C>G (p.Pro452=)
c.1611C>G (p.Pro537=)
c.1173C>G (p.Pro391=)
c.1473C>G (p.Pro491=)
n.1924C>G
9g.104831801G>TCA466513257ABCA1c.1536C>A (p.Pro512=)
c.1356C>A (p.Pro452=)
c.1611C>A (p.Pro537=)
c.1173C>A (p.Pro391=)
c.1473C>A (p.Pro491=)
n.1924C>A
9g.104831802G>ACA374325151ABCA1c.1535C>T (p.Pro512Leu)
c.1355C>T (p.Pro452Leu)
c.1610C>T (p.Pro537Leu)
c.1172C>T (p.Pro391Leu)
c.1472C>T (p.Pro491Leu)
n.1923C>T
9g.104831802G>CCA374325147ABCA1c.1535C>G (p.Pro512Arg)
c.1355C>G (p.Pro452Arg)
c.1610C>G (p.Pro537Arg)
c.1172C>G (p.Pro391Arg)
c.1472C>G (p.Pro491Arg)
n.1923C>G
9g.104831802G>TCA374325149ABCA1c.1535C>A (p.Pro512His)
c.1355C>A (p.Pro452His)
c.1610C>A (p.Pro537His)
c.1172C>A (p.Pro391His)
c.1472C>A (p.Pro491His)
n.1923C>A
9g.104831803G>ACA374325153ABCA1c.1534C>T (p.Pro512Ser)
c.1354C>T (p.Pro452Ser)
c.1609C>T (p.Pro537Ser)
c.1171C>T (p.Pro391Ser)
c.1471C>T (p.Pro491Ser)
n.1922C>T
9g.104831803G>CCA374325155ABCA1c.1534C>G (p.Pro512Ala)
c.1354C>G (p.Pro452Ala)
c.1609C>G (p.Pro537Ala)
c.1171C>G (p.Pro391Ala)
c.1471C>G (p.Pro491Ala)
n.1922C>G
9g.104831803G>TCA374325157ABCA1c.1534C>A (p.Pro512Thr)
c.1354C>A (p.Pro452Thr)
c.1609C>A (p.Pro537Thr)
c.1171C>A (p.Pro391Thr)
c.1471C>A (p.Pro491Thr)
n.1922C>A
9g.104831804T>ACA374325160ABCA1c.1533A>T (p.Glu511Asp)
c.1353A>T (p.Glu451Asp)
c.1608A>T (p.Glu536Asp)
c.1170A>T (p.Glu390Asp)
c.1470A>T (p.Glu490Asp)
n.1921A>T
9g.104831804T>CCA5168972ABCA1c.1533A>G (p.Glu511=)
c.1353A>G (p.Glu451=)
c.1608A>G (p.Glu536=)
c.1170A>G (p.Glu390=)
c.1470A>G (p.Glu490=)
n.1921A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831804T>GCA374325163ABCA1c.1533A>C (p.Glu511Asp)
c.1353A>C (p.Glu451Asp)
c.1608A>C (p.Glu536Asp)
c.1170A>C (p.Glu390Asp)
c.1470A>C (p.Glu490Asp)
n.1921A>C
9g.104831804T=CA1869925929ABCA1c.1533A= (p.Glu511=)
c.1353A= (p.Glu451=)
c.1608A= (p.Glu536=)
c.1170A= (p.Glu390=)
c.1470A= (p.Glu490=)
n.1921A=
9g.104831805T>ACA374325165ABCA1c.1532A>T (p.Glu511Val)
c.1352A>T (p.Glu451Val)
c.1607A>T (p.Glu536Val)
c.1169A>T (p.Glu390Val)
c.1469A>T (p.Glu490Val)
n.1920A>T
9g.104831805T>CCA374325168ABCA1c.1532A>G (p.Glu511Gly)
c.1352A>G (p.Glu451Gly)
c.1607A>G (p.Glu536Gly)
c.1169A>G (p.Glu390Gly)
c.1469A>G (p.Glu490Gly)
n.1920A>G
9g.104831805T>GCA374325166ABCA1c.1532A>C (p.Glu511Ala)
c.1352A>C (p.Glu451Ala)
c.1607A>C (p.Glu536Ala)
c.1169A>C (p.Glu390Ala)
c.1469A>C (p.Glu490Ala)
n.1920A>C
9g.104831806C>ACA374325170ABCA1c.1531G>T (p.Glu511Ter)
c.1351G>T (p.Glu451Ter)
c.1606G>T (p.Glu536Ter)
c.1168G>T (p.Glu390Ter)
c.1468G>T (p.Glu490Ter)
n.1919G>T
9g.104831806C>GCA374325172ABCA1c.1531G>C (p.Glu511Gln)
c.1351G>C (p.Glu451Gln)
c.1606G>C (p.Glu536Gln)
c.1168G>C (p.Glu390Gln)
c.1468G>C (p.Glu490Gln)
n.1919G>C
9g.104831806C>TCA374325174ABCA1c.1531G>A (p.Glu511Lys)
c.1351G>A (p.Glu451Lys)
c.1606G>A (p.Glu536Lys)
c.1168G>A (p.Glu390Lys)
c.1468G>A (p.Glu490Lys)
n.1919G>A
9g.104831807T>ACA466513293ABCA1c.1530A>T (p.Leu510=)
c.1350A>T (p.Leu450=)
c.1605A>T (p.Leu535=)
c.1167A>T (p.Leu389=)
c.1467A>T (p.Leu489=)
n.1918A>T
9g.104831807T>CCA5168973ABCA1c.1530A>G (p.Leu510=)
c.1350A>G (p.Leu450=)
c.1605A>G (p.Leu535=)
c.1167A>G (p.Leu389=)
c.1467A>G (p.Leu489=)
n.1918A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831807T>GCA466513296ABCA1c.1530A>C (p.Leu510=)
c.1350A>C (p.Leu450=)
c.1605A>C (p.Leu535=)
c.1167A>C (p.Leu389=)
c.1467A>C (p.Leu489=)
n.1918A>C
9g.104831807T=CA1869925939ABCA1c.1530A= (p.Leu510=)
c.1350A= (p.Leu450=)
c.1605A= (p.Leu535=)
c.1167A= (p.Leu389=)
c.1467A= (p.Leu489=)
n.1918A=
9g.104831808A>CCA374325182ABCA1c.1529T>G (p.Leu510Arg)
c.1349T>G (p.Leu450Arg)
c.1604T>G (p.Leu535Arg)
c.1166T>G (p.Leu389Arg)
c.1466T>G (p.Leu489Arg)
n.1917T>G
9g.104831808A>GCA374325178ABCA1c.1529T>C (p.Leu510Pro)
c.1349T>C (p.Leu450Pro)
c.1604T>C (p.Leu535Pro)
c.1166T>C (p.Leu389Pro)
c.1466T>C (p.Leu489Pro)
n.1917T>C
9g.104831808A>TCA374325180ABCA1c.1529T>A (p.Leu510Gln)
c.1349T>A (p.Leu450Gln)
c.1604T>A (p.Leu535Gln)
c.1166T>A (p.Leu389Gln)
c.1466T>A (p.Leu489Gln)
n.1917T>A
9g.104831809G>ACA466513309ABCA1c.1528C>T (p.Leu510=)
c.1348C>T (p.Leu450=)
c.1603C>T (p.Leu535=)
c.1165C>T (p.Leu389=)
c.1465C>T (p.Leu489=)
n.1916C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831809G>CCA197397063ABCA1c.1528C>G (p.Leu510Val)
c.1348C>G (p.Leu450Val)
c.1603C>G (p.Leu535Val)
c.1165C>G (p.Leu389Val)
c.1465C>G (p.Leu489Val)
n.1916C>G
 dbSNP
9g.104831809G=CA1869925950ABCA1c.1528C= (p.Leu510=)
c.1348C= (p.Leu450=)
c.1603C= (p.Leu535=)
c.1165C= (p.Leu389=)
c.1465C= (p.Leu489=)
n.1916C=
9g.104831809G>TCA374325186ABCA1c.1528C>A (p.Leu510Ile)
c.1348C>A (p.Leu450Ile)
c.1603C>A (p.Leu535Ile)
c.1165C>A (p.Leu389Ile)
c.1465C>A (p.Leu489Ile)
n.1916C>A
9g.104831810C>ACA374325188ABCA1c.1527G>T (p.Lys509Asn)
c.1347G>T (p.Lys449Asn)
c.1602G>T (p.Lys534Asn)
c.1164G>T (p.Lys388Asn)
c.1464G>T (p.Lys488Asn)
n.1915G>T
9g.104831810C>GCA374325190ABCA1c.1527G>C (p.Lys509Asn)
c.1347G>C (p.Lys449Asn)
c.1602G>C (p.Lys534Asn)
c.1164G>C (p.Lys388Asn)
c.1464G>C (p.Lys488Asn)
n.1915G>C
9g.104831810C>TCA466513316ABCA1c.1527G>A (p.Lys509=)
c.1347G>A (p.Lys449=)
c.1602G>A (p.Lys534=)
c.1164G>A (p.Lys388=)
c.1464G>A (p.Lys488=)
n.1915G>A
9g.104831811T>ACA374325192ABCA1c.1526A>T (p.Lys509Met)
c.1346A>T (p.Lys449Met)
c.1601A>T (p.Lys534Met)
c.1163A>T (p.Lys388Met)
c.1463A>T (p.Lys488Met)
n.1914A>T
9g.104831811T>CCA374325194ABCA1c.1526A>G (p.Lys509Arg)
c.1346A>G (p.Lys449Arg)
c.1601A>G (p.Lys534Arg)
c.1163A>G (p.Lys388Arg)
c.1463A>G (p.Lys488Arg)
n.1914A>G
 gnomAD v4
9g.104831811T>GCA374325196ABCA1c.1526A>C (p.Lys509Thr)
c.1346A>C (p.Lys449Thr)
c.1601A>C (p.Lys534Thr)
c.1163A>C (p.Lys388Thr)
c.1463A>C (p.Lys488Thr)
n.1914A>C
9g.104831812T>ACA374325199ABCA1c.1525A>T (p.Lys509Ter)
c.1345A>T (p.Lys449Ter)
c.1600A>T (p.Lys534Ter)
c.1162A>T (p.Lys388Ter)
c.1462A>T (p.Lys488Ter)
n.1913A>T
9g.104831812T>CCA374325201ABCA1c.1525A>G (p.Lys509Glu)
c.1345A>G (p.Lys449Glu)
c.1600A>G (p.Lys534Glu)
c.1162A>G (p.Lys388Glu)
c.1462A>G (p.Lys488Glu)
n.1913A>G
9g.104831812T>GCA374325203ABCA1c.1525A>C (p.Lys509Gln)
c.1345A>C (p.Lys449Gln)
c.1600A>C (p.Lys534Gln)
c.1162A>C (p.Lys388Gln)
c.1462A>C (p.Lys488Gln)
n.1913A>C
9g.104831814_104831830dupCA2691053463ABCA1c.1510-1_1525dup
c.1330-1_1345dup
c.1585-1_1600dup
c.1147-1_1162dup
c.1447-1_1462dup
n.1898-1_1913dup
 gnomAD v4
9g.104831813G>ACA5168974ABCA1c.1524C>T (p.Asn508=)
c.1344C>T (p.Asn448=)
c.1599C>T (p.Asn533=)
c.1161C>T (p.Asn387=)
c.1461C>T (p.Asn487=)
n.1912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831813G>CCA374325207ABCA1c.1524C>G (p.Asn508Lys)
c.1344C>G (p.Asn448Lys)
c.1599C>G (p.Asn533Lys)
c.1161C>G (p.Asn387Lys)
c.1461C>G (p.Asn487Lys)
n.1912C>G
9g.104831813G=CA1869925961ABCA1c.1524C= (p.Asn508=)
c.1344C= (p.Asn448=)
c.1599C= (p.Asn533=)
c.1161C= (p.Asn387=)
c.1461C= (p.Asn487=)
n.1912C=
9g.104831813G>TCA374325209ABCA1c.1524C>A (p.Asn508Lys)
c.1344C>A (p.Asn448Lys)
c.1599C>A (p.Asn533Lys)
c.1161C>A (p.Asn387Lys)
c.1461C>A (p.Asn487Lys)
n.1912C>A

Number of alleles fetched