Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104831708T>A | CA466512724 | ABCA1 | c.1629A>T (p.Pro543=) c.1449A>T (p.Pro483=) c.1704A>T (p.Pro568=) c.1266A>T (p.Pro422=) c.1566A>T (p.Pro522=) n.2017A>T | gnomAD v4 |
9 | g.104831708T>C | CA466512722 | ABCA1 | c.1629A>G (p.Pro543=) c.1449A>G (p.Pro483=) c.1704A>G (p.Pro568=) c.1266A>G (p.Pro422=) c.1566A>G (p.Pro522=) n.2017A>G | |
9 | g.104831708T>G | CA466512720 | ABCA1 | c.1629A>C (p.Pro543=) c.1449A>C (p.Pro483=) c.1704A>C (p.Pro568=) c.1266A>C (p.Pro422=) c.1566A>C (p.Pro522=) n.2017A>C | |
9 | g.104831709G>A | CA374324762 | ABCA1 | c.1628C>T (p.Pro543Leu) c.1448C>T (p.Pro483Leu) c.1703C>T (p.Pro568Leu) c.1265C>T (p.Pro422Leu) c.1565C>T (p.Pro522Leu) n.2016C>T | |
9 | g.104831709G>C | CA374324761 | ABCA1 | c.1628C>G (p.Pro543Arg) c.1448C>G (p.Pro483Arg) c.1703C>G (p.Pro568Arg) c.1265C>G (p.Pro422Arg) c.1565C>G (p.Pro522Arg) n.2016C>G | |
9 | g.104831709G>T | CA374324760 | ABCA1 | c.1628C>A (p.Pro543Gln) c.1448C>A (p.Pro483Gln) c.1703C>A (p.Pro568Gln) c.1265C>A (p.Pro422Gln) c.1565C>A (p.Pro522Gln) n.2016C>A | gnomAD v4 |
9 | g.104831710dup | CA2840238397 | ABCA1 | c.1628dup (p.Gly544ArgfsTer4) c.1448dup (p.Gly484ArgfsTer4) c.1703dup (p.Gly569ArgfsTer4) c.1265dup (p.Gly423ArgfsTer4) c.1565dup (p.Gly523ArgfsTer4) n.2016dup | |
9 | g.104831710G>A | CA374324763 | ABCA1 | c.1627C>T (p.Pro543Ser) c.1447C>T (p.Pro483Ser) c.1702C>T (p.Pro568Ser) c.1264C>T (p.Pro422Ser) c.1564C>T (p.Pro522Ser) n.2015C>T | |
9 | g.104831710G>C | CA374324764 | ABCA1 | c.1627C>G (p.Pro543Ala) c.1447C>G (p.Pro483Ala) c.1702C>G (p.Pro568Ala) c.1264C>G (p.Pro422Ala) c.1564C>G (p.Pro522Ala) n.2015C>G | |
9 | g.104831710G>T | CA374324765 | ABCA1 | c.1627C>A (p.Pro543Thr) c.1447C>A (p.Pro483Thr) c.1702C>A (p.Pro568Thr) c.1264C>A (p.Pro422Thr) c.1564C>A (p.Pro522Thr) n.2015C>A | |
9 | g.104831711A= | CA1869925722 | ABCA1 | c.1626T= (p.Thr542=) c.1446T= (p.Thr482=) c.1701T= (p.Thr567=) c.1263T= (p.Thr421=) c.1563T= (p.Thr521=) n.2014T= | |
9 | g.104831711A>C | CA5168966 | ABCA1 | c.1626T>G (p.Thr542=) c.1446T>G (p.Thr482=) c.1701T>G (p.Thr567=) c.1263T>G (p.Thr421=) c.1563T>G (p.Thr521=) n.2014T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831711A>G | CA466512741 | ABCA1 | c.1626T>C (p.Thr542=) c.1446T>C (p.Thr482=) c.1701T>C (p.Thr567=) c.1263T>C (p.Thr421=) c.1563T>C (p.Thr521=) n.2014T>C | |
9 | g.104831711A>T | CA466512738 | ABCA1 | c.1626T>A (p.Thr542=) c.1446T>A (p.Thr482=) c.1701T>A (p.Thr567=) c.1263T>A (p.Thr421=) c.1563T>A (p.Thr521=) n.2014T>A | |
9 | g.104831712G>A | CA374324766 | ABCA1 | c.1625C>T (p.Thr542Ile) c.1445C>T (p.Thr482Ile) c.1700C>T (p.Thr567Ile) c.1262C>T (p.Thr421Ile) c.1562C>T (p.Thr521Ile) n.2013C>T | gnomAD v4 |
9 | g.104831712G>C | CA374324767 | ABCA1 | c.1625C>G (p.Thr542Ser) c.1445C>G (p.Thr482Ser) c.1700C>G (p.Thr567Ser) c.1262C>G (p.Thr421Ser) c.1562C>G (p.Thr521Ser) n.2013C>G | |
9 | g.104831712G>T | CA374324768 | ABCA1 | c.1625C>A (p.Thr542Asn) c.1445C>A (p.Thr482Asn) c.1700C>A (p.Thr567Asn) c.1262C>A (p.Thr421Asn) c.1562C>A (p.Thr521Asn) n.2013C>A | |
9 | g.104831713T>A | CA374324769 | ABCA1 | c.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 | |
9 | g.104831713T>C | CA374324770 | ABCA1 | c.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 |
9 | g.104831713T>G | CA374324771 | ABCA1 | c.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 | |
9 | g.104831713T= | CA1869925729 | ABCA1 | c.1624A= (p.Thr542=) c.1444A= (p.Thr482=) c.1699A= (p.Thr567=) c.1261A= (p.Thr421=) c.1561A= (p.Thr521=) n.2012A= | |
9 | g.104831714A>C | CA374324772 | ABCA1 | c.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 | |
9 | g.104831714A>G | CA466512756 | ABCA1 | c.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 | |
9 | g.104831714A>T | CA466512758 | ABCA1 | c.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 | |
9 | g.104831715A>C | CA374324775 | ABCA1 | c.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 | |
9 | g.104831715A>G | CA374324774 | ABCA1 | c.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 | |
9 | g.104831715A>T | CA374324773 | ABCA1 | c.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 | |
9 | g.104831716T>A | CA374324776 | ABCA1 | c.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 | |
9 | g.104831716T>C | CA5168967 | ABCA1 | c.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 |
9 | g.104831716T>G | CA374324777 | ABCA1 | c.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 | |
9 | g.104831716T= | CA1869925735 | ABCA1 | c.1621A= (p.Ile541=) c.1441A= (p.Ile481=) c.1696A= (p.Ile566=) c.1258A= (p.Ile420=) c.1558A= (p.Ile520=) n.2009A= | |
9 | g.104831717T>A | CA466512774 | ABCA1 | c.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 |
9 | g.104831717T>C | CA466512776 | ABCA1 | c.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 | |
9 | g.104831717T>G | CA466512779 | ABCA1 | c.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 |
9 | g.104831717T= | CA1869925738 | ABCA1 | c.1620A= (p.Gly540=) c.1440A= (p.Gly480=) c.1695A= (p.Gly565=) c.1257A= (p.Gly419=) c.1557A= (p.Gly519=) n.2008A= | |
9 | g.104831718C>A | CA374324778 | ABCA1 | c.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 | |
9 | g.104831718C>G | CA374324779 | ABCA1 | c.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 | |
9 | g.104831718C>T | CA374324780 | ABCA1 | c.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 | |
9 | g.104831719C>A | CA374324781 | ABCA1 | c.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 | |
9 | g.104831719C>G | CA374324782 | ABCA1 | c.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 | |
9 | g.104831719C>T | CA374324783 | ABCA1 | c.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 |
9 | g.104831720A>C | CA466512793 | ABCA1 | c.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 | |
9 | g.104831720A>G | CA466512795 | ABCA1 | c.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 | |
9 | g.104831720A>T | CA466512797 | ABCA1 | c.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 | |
9 | g.104831721G>A | CA374324784 | ABCA1 | c.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 |
9 | g.104831721G>C | CA374324785 | ABCA1 | c.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 |
9 | g.104831721G= | CA1869925746 | ABCA1 | c.1616C= (p.Thr539=) c.1436C= (p.Thr479=) c.1691C= (p.Thr564=) c.1253C= (p.Thr418=) c.1553C= (p.Thr518=) n.2004C= | |
9 | g.104831721G>T | CA374324786 | ABCA1 | c.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 | |
9 | g.104831722T>A | CA374324787 | ABCA1 | c.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 | |
9 | g.104831722T>C | CA374324788 | ABCA1 | c.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 | |
9 | g.104831722T>G | CA197397027 | ABCA1 | c.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 |
9 | g.104831722T= | CA1869925752 | ABCA1 | c.1615A= (p.Thr539=) c.1435A= (p.Thr479=) c.1690A= (p.Thr564=) c.1252A= (p.Thr418=) c.1552A= (p.Thr518=) n.2003A= | |
9 | g.104831723G>A | CA5168968 | ABCA1 | c.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 |
9 | g.104831723G>C | CA374324789 | ABCA1 | c.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 | |
9 | g.104831723G= | CA1869925758 | ABCA1 | c.1614C= (p.Phe538=) c.1434C= (p.Phe478=) c.1689C= (p.Phe563=) c.1251C= (p.Phe417=) c.1551C= (p.Phe517=) n.2002C= | |
9 | g.104831723G>T | CA374324790 | ABCA1 | c.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 |
9 | g.104831724A>C | CA374324791 | ABCA1 | c.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 | |
9 | g.104831724A>G | CA374324792 | ABCA1 | c.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 | |
9 | g.104831724A>T | CA374324793 | ABCA1 | c.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 | |
9 | g.104831725A>C | CA374324794 | ABCA1 | c.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 | |
9 | g.104831725A>G | CA374324795 | ABCA1 | c.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 | |
9 | g.104831725A>T | CA374324796 | ABCA1 | c.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 | |
9 | g.104831726C>A | CA466512831 | ABCA1 | c.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 | |
9 | g.104831726C= | CA1869925772 | ABCA1 | c.1611G= (p.Val537=) c.1431G= (p.Val477=) c.1686G= (p.Val562=) c.1248G= (p.Val416=) c.1548G= (p.Val516=) n.1999G= | |
9 | g.104831726C>G | CA466512833 | ABCA1 | c.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 | |
9 | g.104831726C>T | CA466512836 | ABCA1 | c.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 |
9 | g.104831727A>C | CA374324797 | ABCA1 | c.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 | |
9 | g.104831727A>G | CA374324798 | ABCA1 | c.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 | |
9 | g.104831727A>T | CA374324799 | ABCA1 | c.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 | |
9 | g.104831728C>A | CA374324800 | ABCA1 | c.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 | |
9 | g.104831728C>G | CA374324801 | ABCA1 | c.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 | |
9 | g.104831728C>T | CA374324802 | ABCA1 | c.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 |
9 | g.104831729A>C | CA374324803 | ABCA1 | c.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 |
9 | g.104831729A>G | CA466512850 | ABCA1 | c.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 | |
9 | g.104831729A>T | CA466512852 | ABCA1 | c.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 | |
9 | g.104831730A>C | CA374324804 | ABCA1 | c.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 | |
9 | g.104831730A>G | CA374324805 | ABCA1 | c.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 | |
9 | g.104831730A>T | CA374324806 | ABCA1 | c.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 | |
9 | g.104831731T>A | CA374324807 | ABCA1 | c.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 | |
9 | g.104831731T>C | CA374324808 | ABCA1 | c.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 | |
9 | g.104831731T>G | CA374324809 | ABCA1 | c.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 | |
9 | g.104831732A>C | CA466512871 | ABCA1 | c.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 | |
9 | g.104831732A>G | CA466512866 | ABCA1 | c.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 | |
9 | g.104831732A>T | CA466512869 | ABCA1 | c.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 | |
9 | g.104831733C>A | CA374324810 | ABCA1 | c.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 | |
9 | g.104831733C>G | CA374324811 | ABCA1 | c.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 | |
9 | g.104831733C>T | CA374324812 | ABCA1 | c.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 | |
9 | g.104831734C>A | CA374324813 | ABCA1 | c.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 | |
9 | g.104831734C>G | CA374324814 | ABCA1 | c.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 | |
9 | g.104831734C>T | CA374324815 | ABCA1 | c.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 | |
9 | g.104831734_104831735insGTA | CA2691053461 | ABCA1 | c.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 |
9 | g.104831735A>C | CA466512886 | ABCA1 | c.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 | |
9 | g.104831735A>G | CA466512887 | ABCA1 | c.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 |
9 | g.104831735A>T | CA466512889 | ABCA1 | c.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 | |
9 | g.104831736G>A | CA374324818 | ABCA1 | c.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 | |
9 | g.104831736G>C | CA374324817 | ABCA1 | c.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 | |
9 | g.104831736G>T | CA374324816 | ABCA1 | c.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 | |
9 | g.104831737C>A | CA374324819 | ABCA1 | c.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 | |
9 | g.104831737C>G | CA374324820 | ABCA1 | c.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 | |
9 | g.104831737C>T | CA374324821 | ABCA1 | c.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 |
9 | g.104831738C>A | CA374324822 | ABCA1 | c.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 | |
9 | g.104831738C>G | CA374324823 | ABCA1 | c.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 | |
9 | g.104831738C>T | CA374324824 | ABCA1 | c.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 | |
9 | g.104831739C>A | CA374324827 | ABCA1 | c.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 | |
9 | g.104831739C>G | CA374324829 | ABCA1 | c.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 | |
9 | g.104831739C>T | CA374324831 | ABCA1 | c.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 | |
9 | g.104831739_104831753delinsCAGAACTTCCTCTCA | CA1869925777 | ABCA1 | c.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 | |
9 | g.104831740A>C | CA374324834 | ABCA1 | c.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 | |
9 | g.104831740A>G | CA374324836 | ABCA1 | c.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 | |
9 | g.104831740A>T | CA374324838 | ABCA1 | c.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 | |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT | CA197397044 | ABCA1 | c.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 |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG | CA212917 | ABCA1 | c.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 |
9 | g.104831741G>A | CA466512915 | ABCA1 | c.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 | |
9 | g.104831741G>C | CA374324843 | ABCA1 | c.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 | |
9 | g.104831741G>T | CA374324841 | ABCA1 | c.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 |
9 | g.104831742A>C | CA374324846 | ABCA1 | c.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 | |
9 | g.104831742A>G | CA374324847 | ABCA1 | c.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 | |
9 | g.104831742A>T | CA374324849 | ABCA1 | c.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 |
9 | g.104831743A>C | CA374324852 | ABCA1 | c.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 | |
9 | g.104831743A>G | CA374324853 | ABCA1 | c.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 | |
9 | g.104831743A>T | CA374324855 | ABCA1 | c.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 | |
9 | g.104831744C>A | CA374324858 | ABCA1 | c.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 | |
9 | g.104831744C= | CA1869925789 | ABCA1 | c.1593G= (p.Lys531=) c.1413G= (p.Lys471=) c.1668G= (p.Lys556=) c.1230G= (p.Lys410=) c.1530G= (p.Lys510=) n.1981G= | |
9 | g.104831744C>G | CA374324859 | ABCA1 | c.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 | |
9 | g.104831744C>T | CA466512932 | ABCA1 | c.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 |
9 | g.104831745T>A | CA374324861 | ABCA1 | c.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 | |
9 | g.104831745T>C | CA374324863 | ABCA1 | c.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 |
9 | g.104831745T>G | CA374324865 | ABCA1 | c.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 | |
9 | g.104831746T>A | CA374324867 | ABCA1 | c.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 | |
9 | g.104831746T>C | CA374324868 | ABCA1 | c.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 | |
9 | g.104831746T>G | CA374324869 | ABCA1 | c.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 | |
9 | g.104831747C>A | CA374324871 | ABCA1 | c.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 |
9 | g.104831747C>G | CA374324873 | ABCA1 | c.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 |
9 | g.104831747C>T | CA466512947 | ABCA1 | c.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 | |
9 | g.104831748C>A | CA374324876 | ABCA1 | c.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 | |
9 | g.104831748C>G | CA374324880 | ABCA1 | c.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 | |
9 | g.104831748C>T | CA374324878 | ABCA1 | c.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 |
9 | g.104831749T>A | CA374324883 | ABCA1 | c.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 | |
9 | g.104831749T>C | CA374324884 | ABCA1 | c.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 | |
9 | g.104831749T>G | CA466512959 | ABCA1 | c.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 | |
9 | g.104831750C>A | CA374324886 | ABCA1 | c.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 | |
9 | g.104831750C>G | CA374324888 | ABCA1 | c.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 | |
9 | g.104831750C>T | CA466512966 | ABCA1 | c.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 |
9 | g.104831751T>A | CA374324890 | ABCA1 | c.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 |
9 | g.104831751T>C | CA374324892 | ABCA1 | c.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 | |
9 | g.104831751T>G | CA374324894 | ABCA1 | c.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 |
9 | g.104831751T= | CA1869925794 | ABCA1 | c.1586A= (p.Glu529=) c.1406A= (p.Glu469=) c.1661A= (p.Glu554=) c.1223A= (p.Glu408=) c.1523A= (p.Glu508=) n.1974A= | |
9 | g.104831752C>A | CA374324897 | ABCA1 | c.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 | |
9 | g.104831752C= | CA1869925797 | ABCA1 | c.1585G= (p.Glu529=) c.1405G= (p.Glu469=) c.1660G= (p.Glu554=) c.1222G= (p.Glu408=) c.1522G= (p.Glu508=) n.1973G= | |
9 | g.104831752C>G | CA374324899 | ABCA1 | c.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 |
9 | g.104831752C>T | CA374324901 | ABCA1 | c.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 |
9 | g.104831753A= | CA1869925800 | ABCA1 | c.1584T= (p.Asp528=) c.1404T= (p.Asp468=) c.1659T= (p.Asp553=) c.1221T= (p.Asp407=) c.1521T= (p.Asp507=) n.1972T= | |
9 | g.104831753A>C | CA374324903 | ABCA1 | c.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 |
9 | g.104831753A>G | CA466512980 | ABCA1 | c.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 |
9 | g.104831753A>T | CA374324905 | ABCA1 | c.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 |
9 | g.104831754T>A | CA374324909 | ABCA1 | c.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 |
9 | g.104831754T>C | CA374324911 | ABCA1 | c.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 | |
9 | g.104831754T>G | CA374324913 | ABCA1 | c.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 | |
9 | g.104831755C>A | CA374324916 | ABCA1 | c.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 | |
9 | g.104831755C>G | CA374324919 | ABCA1 | c.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 | |
9 | g.104831755C>T | CA374324917 | ABCA1 | c.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 | |
9 | g.104831756C>A | CA466512998 | ABCA1 | c.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 | |
9 | g.104831756C= | CA1869925806 | ABCA1 | c.1581G= (p.Leu527=) c.1401G= (p.Leu467=) c.1656G= (p.Leu552=) c.1218G= (p.Leu406=) c.1518G= (p.Leu506=) n.1969G= | |
9 | g.104831756C>G | CA466513000 | ABCA1 | c.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 | |
9 | g.104831756C>T | CA466513002 | ABCA1 | c.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 |
9 | g.104831757A>C | CA374324922 | ABCA1 | c.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 | |
9 | g.104831757A>G | CA374324923 | ABCA1 | c.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 | |
9 | g.104831757A>T | CA374324926 | ABCA1 | c.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 | |
9 | g.104831758G>A | CA466513009 | ABCA1 | c.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 | |
9 | g.104831758G>C | CA374324928 | ABCA1 | c.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 | |
9 | g.104831758G>T | CA374324930 | ABCA1 | c.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 | |
9 | g.104831759C>A | CA466513015 | ABCA1 | c.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 | |
9 | g.104831759C= | CA1869925811 | ABCA1 | c.1578G= (p.Leu526=) c.1398G= (p.Leu466=) c.1653G= (p.Leu551=) c.1215G= (p.Leu405=) c.1515G= (p.Leu505=) n.1966G= | |
9 | g.104831759C>G | CA466513017 | ABCA1 | c.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 |
9 | g.104831759C>T | CA466513013 | ABCA1 | c.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 | |
9 | g.104831760A= | CA1869925817 | ABCA1 | c.1577T= (p.Leu526=) c.1397T= (p.Leu466=) c.1652T= (p.Leu551=) c.1214T= (p.Leu405=) c.1514T= (p.Leu505=) n.1965T= | |
9 | g.104831760A>C | CA374324931 | ABCA1 | c.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 | |
9 | g.104831760A>G | CA374324933 | ABCA1 | c.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 |
9 | g.104831760A>T | CA374324935 | ABCA1 | c.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 | |
9 | g.104831761G>A | CA466513026 | ABCA1 | c.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 | |
9 | g.104831761G>C | CA374324937 | ABCA1 | c.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 | |
9 | g.104831761G>T | CA374324940 | ABCA1 | c.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 | |
9 | g.104831762C>A | CA374324945 | ABCA1 | c.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 | |
9 | g.104831762C= | CA1869925831 | ABCA1 | c.1575G= (p.Glu525=) c.1395G= (p.Glu465=) c.1650G= (p.Glu550=) c.1212G= (p.Glu404=) c.1512G= (p.Glu504=) n.1963G= | |
9 | g.104831762C>G | CA374324942 | ABCA1 | c.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 | |
9 | g.104831762C>T | CA466513032 | ABCA1 | c.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 |
9 | g.104831763T>A | CA374324947 | ABCA1 | c.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 | |
9 | g.104831763T>C | CA374324949 | ABCA1 | c.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 | |
9 | g.104831763T>G | CA374324951 | ABCA1 | c.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 | |
9 | g.104831764C>A | CA374324954 | ABCA1 | c.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 | |
9 | g.104831764C>G | CA374324956 | ABCA1 | c.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 | |
9 | g.104831764C>T | CA374324958 | ABCA1 | c.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 | |
9 | g.104831765C>A | CA374324961 | ABCA1 | c.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 | |
9 | g.104831765C>G | CA374324963 | ABCA1 | c.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 | |
9 | g.104831765C>T | CA374324965 | ABCA1 | c.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 | |
9 | g.104831766A= | CA1869925835 | ABCA1 | c.1571T= (p.Met524=) c.1391T= (p.Met464=) c.1646T= (p.Met549=) c.1208T= (p.Met403=) c.1508T= (p.Met503=) n.1959T= | |
9 | g.104831766A>C | CA374324968 | ABCA1 | c.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 |
9 | g.104831766A>G | CA197397048 | ABCA1 | c.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 |
9 | g.104831766A>T | CA374324972 | ABCA1 | c.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 | |
9 | g.104831767T>A | CA374324977 | ABCA1 | c.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 |
9 | g.104831767T>C | CA197397051 | ABCA1 | c.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 |
9 | g.104831767T>G | CA374324974 | ABCA1 | c.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 | |
9 | g.104831767T= | CA1869925844 | ABCA1 | c.1570A= (p.Met524=) c.1390A= (p.Met464=) c.1645A= (p.Met549=) c.1207A= (p.Met403=) c.1507A= (p.Met503=) n.1958A= | |
9 | g.104831768G>A | CA466513063 | ABCA1 | c.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 | |
9 | g.104831768G>C | CA466513065 | ABCA1 | c.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 | |
9 | g.104831768G>T | CA466513067 | ABCA1 | c.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 | |
9 | g.104831769G>A | CA5168969 | ABCA1 | c.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 |
9 | g.104831769G>C | CA374324981 | ABCA1 | c.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 | |
9 | g.104831769G= | CA1869925854 | ABCA1 | c.1568C= (p.Ser523=) c.1388C= (p.Ser463=) c.1643C= (p.Ser548=) c.1205C= (p.Ser402=) c.1505C= (p.Ser502=) n.1956C= | |
9 | g.104831769G>T | CA374324983 | ABCA1 | c.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 |
9 | g.104831770A>C | CA374324985 | ABCA1 | c.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 | |
9 | g.104831770A>G | CA374324987 | ABCA1 | c.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 | |
9 | g.104831770A>T | CA374324989 | ABCA1 | c.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 | |
9 | g.104831771C>A | CA374324992 | ABCA1 | c.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 |
9 | g.104831771C= | CA1869925863 | ABCA1 | c.1566G= (p.Lys522=) c.1386G= (p.Lys462=) c.1641G= (p.Lys547=) c.1203G= (p.Lys401=) c.1503G= (p.Lys501=) n.1954G= | |
9 | g.104831771C>G | CA374324994 | ABCA1 | c.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 |
9 | g.104831771C>T | CA5168970 | ABCA1 | c.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 |
9 | g.104831772T>A | CA374324997 | ABCA1 | c.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 | |
9 | g.104831772T>C | CA374325000 | ABCA1 | c.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 |
9 | g.104831772T>G | CA197397054 | ABCA1 | c.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 |
9 | g.104831772T= | CA1869925870 | ABCA1 | c.1565A= (p.Lys522=) c.1385A= (p.Lys462=) c.1640A= (p.Lys547=) c.1202A= (p.Lys401=) c.1502A= (p.Lys501=) n.1953A= | |
9 | g.104831775_104831777del | CA2691053462 | ABCA1 | c.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 |
9 | g.104831773T>A | CA374325007 | ABCA1 | c.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 | |
9 | g.104831773T>C | CA374325005 | ABCA1 | c.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 | |
9 | g.104831773T>G | CA374325003 | ABCA1 | c.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 | |
9 | g.104831774G>A | CA466513096 | ABCA1 | c.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 | |
9 | g.104831774G>C | CA374325010 | ABCA1 | c.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 |
9 | g.104831774G>T | CA374325012 | ABCA1 | c.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 | |
9 | g.104831775T>A | CA374325014 | ABCA1 | c.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 | |
9 | g.104831775T>C | CA374325016 | ABCA1 | c.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 |
9 | g.104831775T>G | CA374325017 | ABCA1 | c.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 | |
9 | g.104831776T>A | CA374325021 | ABCA1 | c.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 | |
9 | g.104831776T>C | CA374325023 | ABCA1 | c.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 | |
9 | g.104831776T>G | CA374325024 | ABCA1 | c.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 | |
9 | g.104831777G>A | CA466513113 | ABCA1 | c.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 | |
9 | g.104831777G>C | CA374325027 | ABCA1 | c.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 |
9 | g.104831777G= | CA1869925875 | ABCA1 | c.1560C= (p.Ile520=) c.1380C= (p.Ile460=) c.1635C= (p.Ile545=) c.1197C= (p.Ile399=) c.1497C= (p.Ile499=) n.1948C= | |
9 | g.104831777G>T | CA466513117 | ABCA1 | c.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 | |
9 | g.104831778A>C | CA374325030 | ABCA1 | c.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 | |
9 | g.104831778A>G | CA374325032 | ABCA1 | c.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 | |
9 | g.104831778A>T | CA374325034 | ABCA1 | c.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 | |
9 | g.104831779T>A | CA374325037 | ABCA1 | c.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 | |
9 | g.104831779T>C | CA374325039 | ABCA1 | c.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 |
9 | g.104831779T>G | CA374325041 | ABCA1 | c.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 | |
9 | g.104831780G>A | CA466513129 | ABCA1 | c.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 | |
9 | g.104831780G>C | CA466513132 | ABCA1 | c.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 | |
9 | g.104831780G>T | CA466513131 | ABCA1 | c.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 | |
9 | g.104831781A>C | CA374325044 | ABCA1 | c.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 | |
9 | g.104831781A>G | CA374325048 | ABCA1 | c.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 | |
9 | g.104831781A>T | CA374325046 | ABCA1 | c.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 | |
9 | g.104831782G>A | CA374325051 | ABCA1 | c.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 | |
9 | g.104831782G>C | CA374325053 | ABCA1 | c.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 | |
9 | g.104831782G>T | CA374325055 | ABCA1 | c.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 | |
9 | g.104831783C>A | CA374325058 | ABCA1 | c.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 |
9 | g.104831783C= | CA1869925878 | ABCA1 | c.1554G= (p.Trp518=) c.1374G= (p.Trp458=) c.1629G= (p.Trp543=) c.1191G= (p.Trp397=) c.1491G= (p.Trp497=) n.1942G= | |
9 | g.104831783C>G | CA374325060 | ABCA1 | c.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 | |
9 | g.104831783C>T | CA374325062 | ABCA1 | c.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 | |
9 | g.104831784C>A | CA374325064 | ABCA1 | c.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 | |
9 | g.104831784C>G | CA374325066 | ABCA1 | c.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 | |
9 | g.104831784C>T | CA374325068 | ABCA1 | c.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 | |
9 | g.104831785A>C | CA374325072 | ABCA1 | c.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 | |
9 | g.104831785A>G | CA374325073 | ABCA1 | c.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 | |
9 | g.104831785A>T | CA374325075 | ABCA1 | c.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 | |
9 | g.104831786G>A | CA466513172 | ABCA1 | c.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 |
9 | g.104831786G>C | CA466513174 | ABCA1 | c.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 | |
9 | g.104831786G= | CA1869925881 | ABCA1 | c.1551C= (p.Val517=) c.1371C= (p.Val457=) c.1626C= (p.Val542=) c.1188C= (p.Val396=) c.1488C= (p.Val496=) n.1939C= | |
9 | g.104831786G>T | CA466513177 | ABCA1 | c.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 | |
9 | g.104831787A>C | CA374325078 | ABCA1 | c.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 | |
9 | g.104831787A>G | CA374325081 | ABCA1 | c.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 | |
9 | g.104831787A>T | CA374325080 | ABCA1 | c.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 | |
9 | g.104831788C>A | CA374325083 | ABCA1 | c.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 |
9 | g.104831788C= | CA1869925888 | ABCA1 | c.1549G= (p.Val517=) c.1369G= (p.Val457=) c.1624G= (p.Val542=) c.1186G= (p.Val396=) c.1486G= (p.Val496=) n.1937G= | |
9 | g.104831788C>G | CA374325084 | ABCA1 | c.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 |
9 | g.104831788C>T | CA374325087 | ABCA1 | c.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 |
9 | g.104831789T>A | CA374325090 | ABCA1 | c.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 | |
9 | g.104831789T>C | CA466513190 | ABCA1 | c.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 | |
9 | g.104831789T>G | CA374325091 | ABCA1 | c.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 | |
9 | g.104831790T>A | CA374325094 | ABCA1 | c.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 | |
9 | g.104831790T>C | CA374325096 | ABCA1 | c.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 | |
9 | g.104831790T>G | CA374325098 | ABCA1 | c.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 | |
9 | g.104831791C>A | CA197397057 | ABCA1 | c.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 |
9 | g.104831791C= | CA1869925892 | ABCA1 | c.1546G= (p.Glu516=) c.1366G= (p.Glu456=) c.1621G= (p.Glu541=) c.1183G= (p.Glu395=) c.1483G= (p.Glu495=) n.1934G= | |
9 | g.104831791C>G | CA374325102 | ABCA1 | c.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 | |
9 | g.104831791C>T | CA374325104 | ABCA1 | c.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 | |
9 | g.104831792T>A | CA466513207 | ABCA1 | c.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 | |
9 | g.104831792T>C | CA466513208 | ABCA1 | c.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 |
9 | g.104831792T>G | CA466513213 | ABCA1 | c.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 |
9 | g.104831792T= | CA1869925897 | ABCA1 | c.1545A= (p.Thr515=) c.1365A= (p.Thr455=) c.1620A= (p.Thr540=) c.1182A= (p.Thr394=) c.1482A= (p.Thr494=) n.1933A= | |
9 | g.104831793G>A | CA374325111 | ABCA1 | c.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 | |
9 | g.104831793G>C | CA374325109 | ABCA1 | c.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 | |
9 | g.104831793G>T | CA374325107 | ABCA1 | c.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 | |
9 | g.104831793dup | CA2840238398 | ABCA1 | c.1544dup (p.Glu516ArgfsTer14) c.1364dup (p.Glu456ArgfsTer14) c.1619dup (p.Glu541ArgfsTer14) c.1181dup (p.Glu395ArgfsTer14) c.1481dup (p.Glu495ArgfsTer14) n.1932dup | |
9 | g.104831794T>A | CA374325113 | ABCA1 | c.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 | |
9 | g.104831794T>C | CA5168971 | ABCA1 | c.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 |
9 | g.104831794T>G | CA374325116 | ABCA1 | c.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 | |
9 | g.104831794T= | CA1869925901 | ABCA1 | c.1543A= (p.Thr515=) c.1363A= (p.Thr455=) c.1618A= (p.Thr540=) c.1180A= (p.Thr394=) c.1480A= (p.Thr494=) n.1931A= | |
9 | g.104831795T>A | CA466513226 | ABCA1 | c.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 | |
9 | g.104831795T>C | CA466513228 | ABCA1 | c.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 | |
9 | g.104831795T>G | CA466513231 | ABCA1 | c.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 | |
9 | g.104831796G>A | CA374325118 | ABCA1 | c.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 |
9 | g.104831796G>C | CA374325120 | ABCA1 | c.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 | |
9 | g.104831796G>T | CA374325122 | ABCA1 | c.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 | |
9 | g.104831797C>A | CA374325125 | ABCA1 | c.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 | |
9 | g.104831797C>G | CA374325127 | ABCA1 | c.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 | |
9 | g.104831797C>T | CA374325129 | ABCA1 | c.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 | |
9 | g.104831798T>A | CA466513245 | ABCA1 | c.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 | |
9 | g.104831798T>C | CA374325131 | ABCA1 | c.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 |
9 | g.104831798T>G | CA466513246 | ABCA1 | c.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 | |
9 | g.104831798T= | CA1869925909 | ABCA1 | c.1539A= (p.Ile513=) c.1359A= (p.Ile453=) c.1614A= (p.Ile538=) c.1176A= (p.Ile392=) c.1476A= (p.Ile492=) n.1927A= | |
9 | g.104831799A= | CA1869925910 | ABCA1 | c.1538T= (p.Ile513=) c.1358T= (p.Ile453=) c.1613T= (p.Ile538=) c.1175T= (p.Ile392=) c.1475T= (p.Ile492=) n.1926T= | |
9 | g.104831799A>C | CA374325134 | ABCA1 | c.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 | |
9 | g.104831799A>G | CA374325136 | ABCA1 | c.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 | |
9 | g.104831799A>T | CA374325138 | ABCA1 | c.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 |
9 | g.104831800T>A | CA374325142 | ABCA1 | c.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 | |
9 | g.104831800T>C | CA374325144 | ABCA1 | c.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 |
9 | g.104831800T>G | CA374325141 | ABCA1 | c.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 |
9 | g.104831800T= | CA1869925921 | ABCA1 | c.1537A= (p.Ile513=) c.1357A= (p.Ile453=) c.1612A= (p.Ile538=) c.1174A= (p.Ile392=) c.1474A= (p.Ile492=) n.1925A= | |
9 | g.104831801G>A | CA466513261 | ABCA1 | c.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 | |
9 | g.104831801G>C | CA466513259 | ABCA1 | c.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 | |
9 | g.104831801G>T | CA466513257 | ABCA1 | c.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 | |
9 | g.104831802G>A | CA374325151 | ABCA1 | c.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 | |
9 | g.104831802G>C | CA374325147 | ABCA1 | c.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 | |
9 | g.104831802G>T | CA374325149 | ABCA1 | c.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 | |
9 | g.104831803G>A | CA374325153 | ABCA1 | c.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 | |
9 | g.104831803G>C | CA374325155 | ABCA1 | c.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 | |
9 | g.104831803G>T | CA374325157 | ABCA1 | c.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 | |
9 | g.104831804T>A | CA374325160 | ABCA1 | c.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 | |
9 | g.104831804T>C | CA5168972 | ABCA1 | c.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 |
9 | g.104831804T>G | CA374325163 | ABCA1 | c.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 | |
9 | g.104831804T= | CA1869925929 | ABCA1 | c.1533A= (p.Glu511=) c.1353A= (p.Glu451=) c.1608A= (p.Glu536=) c.1170A= (p.Glu390=) c.1470A= (p.Glu490=) n.1921A= | |
9 | g.104831805T>A | CA374325165 | ABCA1 | c.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 | |
9 | g.104831805T>C | CA374325168 | ABCA1 | c.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 | |
9 | g.104831805T>G | CA374325166 | ABCA1 | c.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 | |
9 | g.104831806C>A | CA374325170 | ABCA1 | c.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 | |
9 | g.104831806C>G | CA374325172 | ABCA1 | c.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 | |
9 | g.104831806C>T | CA374325174 | ABCA1 | c.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 | |
9 | g.104831807T>A | CA466513293 | ABCA1 | c.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 | |
9 | g.104831807T>C | CA5168973 | ABCA1 | c.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 |
9 | g.104831807T>G | CA466513296 | ABCA1 | c.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 | |
9 | g.104831807T= | CA1869925939 | ABCA1 | c.1530A= (p.Leu510=) c.1350A= (p.Leu450=) c.1605A= (p.Leu535=) c.1167A= (p.Leu389=) c.1467A= (p.Leu489=) n.1918A= | |
9 | g.104831808A>C | CA374325182 | ABCA1 | c.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 | |
9 | g.104831808A>G | CA374325178 | ABCA1 | c.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 | |
9 | g.104831808A>T | CA374325180 | ABCA1 | c.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 |