Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104831683C>ACA374324705ABCA1c.1654G>T (p.Val552Phe)
c.1474G>T (p.Val492Phe)
c.1729G>T (p.Val577Phe)
c.1291G>T (p.Val431Phe)
c.1591G>T (p.Val531Phe)
n.2042G>T
9g.104831683C>GCA374324706ABCA1c.1654G>C (p.Val552Leu)
c.1474G>C (p.Val492Leu)
c.1729G>C (p.Val577Leu)
c.1291G>C (p.Val431Leu)
c.1591G>C (p.Val531Leu)
n.2042G>C
9g.104831683C>TCA374324707ABCA1c.1654G>A (p.Val552Ile)
c.1474G>A (p.Val492Ile)
c.1729G>A (p.Val577Ile)
c.1291G>A (p.Val431Ile)
c.1591G>A (p.Val531Ile)
n.2042G>A
9g.104831684A>CCA374324708ABCA1c.1653T>G (p.His551Gln)
c.1473T>G (p.His491Gln)
c.1728T>G (p.His576Gln)
c.1290T>G (p.His430Gln)
c.1590T>G (p.His530Gln)
n.2041T>G
 gnomAD v4
9g.104831684A>GCA466512574ABCA1c.1653T>C (p.His551=)
c.1473T>C (p.His491=)
c.1728T>C (p.His576=)
c.1290T>C (p.His430=)
c.1590T>C (p.His530=)
n.2041T>C
9g.104831684A>TCA374324709ABCA1c.1653T>A (p.His551Gln)
c.1473T>A (p.His491Gln)
c.1728T>A (p.His576Gln)
c.1290T>A (p.His430Gln)
c.1590T>A (p.His530Gln)
n.2041T>A
9g.104831687_104831689delCA2691053457ABCA1c.1651_1653del (p.His551del)
c.1471_1473del (p.His491del)
c.1726_1728del (p.His576del)
c.1288_1290del (p.His430del)
c.1588_1590del (p.His530del)
n.2039_2041del
 gnomAD v4
9g.104831685T>ACA374324710ABCA1c.1652A>T (p.His551Leu)
c.1472A>T (p.His491Leu)
c.1727A>T (p.His576Leu)
c.1289A>T (p.His430Leu)
c.1589A>T (p.His530Leu)
n.2040A>T
9g.104831685T>CCA374324711ABCA1c.1652A>G (p.His551Arg)
c.1472A>G (p.His491Arg)
c.1727A>G (p.His576Arg)
c.1289A>G (p.His430Arg)
c.1589A>G (p.His530Arg)
n.2040A>G
9g.104831685T>GCA374324712ABCA1c.1652A>C (p.His551Pro)
c.1472A>C (p.His491Pro)
c.1727A>C (p.His576Pro)
c.1289A>C (p.His430Pro)
c.1589A>C (p.His530Pro)
n.2040A>C
 gnomAD v4
9g.104831686G>ACA374324713ABCA1c.1651C>T (p.His551Tyr)
c.1471C>T (p.His491Tyr)
c.1726C>T (p.His576Tyr)
c.1288C>T (p.His430Tyr)
c.1588C>T (p.His530Tyr)
n.2039C>T
9g.104831686G>CCA5168959ABCA1c.1651C>G (p.His551Asp)
c.1471C>G (p.His491Asp)
c.1726C>G (p.His576Asp)
c.1288C>G (p.His430Asp)
c.1588C>G (p.His530Asp)
n.2039C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831686G=CA1869925652ABCA1c.1651C= (p.His551=)
c.1471C= (p.His491=)
c.1726C= (p.His576=)
c.1288C= (p.His430=)
c.1588C= (p.His530=)
n.2039C=
9g.104831686G>TCA374324714ABCA1c.1651C>A (p.His551Asn)
c.1471C>A (p.His491Asn)
c.1726C>A (p.His576Asn)
c.1288C>A (p.His430Asn)
c.1588C>A (p.His530Asn)
n.2039C>A
9g.104831687A>CCA374324715ABCA1c.1650T>G (p.His550Gln)
c.1470T>G (p.His490Gln)
c.1725T>G (p.His575Gln)
c.1287T>G (p.His429Gln)
c.1587T>G (p.His529Gln)
n.2038T>G
9g.104831687A>GCA466512592ABCA1c.1650T>C (p.His550=)
c.1470T>C (p.His490=)
c.1725T>C (p.His575=)
c.1287T>C (p.His429=)
c.1587T>C (p.His529=)
n.2038T>C
9g.104831687A>TCA374324716ABCA1c.1650T>A (p.His550Gln)
c.1470T>A (p.His490Gln)
c.1725T>A (p.His575Gln)
c.1287T>A (p.His429Gln)
c.1587T>A (p.His529Gln)
n.2038T>A
9g.104831688T>ACA374324717ABCA1c.1649A>T (p.His550Leu)
c.1469A>T (p.His490Leu)
c.1724A>T (p.His575Leu)
c.1286A>T (p.His429Leu)
c.1586A>T (p.His529Leu)
n.2037A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831688T>CCA374324718ABCA1c.1649A>G (p.His550Arg)
c.1469A>G (p.His490Arg)
c.1724A>G (p.His575Arg)
c.1286A>G (p.His429Arg)
c.1586A>G (p.His529Arg)
n.2037A>G
9g.104831688T>GCA374324719ABCA1c.1649A>C (p.His550Pro)
c.1469A>C (p.His490Pro)
c.1724A>C (p.His575Pro)
c.1286A>C (p.His429Pro)
c.1586A>C (p.His529Pro)
n.2037A>C
9g.104831688T=CA1869925656ABCA1c.1649A= (p.His550=)
c.1469A= (p.His490=)
c.1724A= (p.His575=)
c.1286A= (p.His429=)
c.1586A= (p.His529=)
n.2037A=
9g.104831689G>ACA374324720ABCA1c.1648C>T (p.His550Tyr)
c.1468C>T (p.His490Tyr)
c.1723C>T (p.His575Tyr)
c.1285C>T (p.His429Tyr)
c.1585C>T (p.His529Tyr)
n.2036C>T
 gnomAD v4
9g.104831689G>CCA374324721ABCA1c.1648C>G (p.His550Asp)
c.1468C>G (p.His490Asp)
c.1723C>G (p.His575Asp)
c.1285C>G (p.His429Asp)
c.1585C>G (p.His529Asp)
n.2036C>G
9g.104831689G>TCA374324722ABCA1c.1648C>A (p.His550Asn)
c.1468C>A (p.His490Asn)
c.1723C>A (p.His575Asn)
c.1285C>A (p.His429Asn)
c.1585C>A (p.His529Asn)
n.2036C>A
9g.104831692dupCA2785407727ABCA1c.1648dup (p.His550ProfsTer12)
c.1468dup (p.His490ProfsTer12)
c.1723dup (p.His575ProfsTer12)
c.1285dup (p.His429ProfsTer12)
c.1585dup (p.His529ProfsTer12)
n.2036dup
9g.104831690G>ACA5168960ABCA1c.1647C>T (p.Pro549=)
c.1467C>T (p.Pro489=)
c.1722C>T (p.Pro574=)
c.1284C>T (p.Pro428=)
c.1584C>T (p.Pro528=)
n.2035C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831690G>CCA466512607ABCA1c.1647C>G (p.Pro549=)
c.1467C>G (p.Pro489=)
c.1722C>G (p.Pro574=)
c.1284C>G (p.Pro428=)
c.1584C>G (p.Pro528=)
n.2035C>G
 ClinVar gnomAD v4
9g.104831690G=CA1869925661ABCA1c.1647C= (p.Pro549=)
c.1467C= (p.Pro489=)
c.1722C= (p.Pro574=)
c.1284C= (p.Pro428=)
c.1584C= (p.Pro528=)
n.2035C=
9g.104831690G>TCA466512609ABCA1c.1647C>A (p.Pro549=)
c.1467C>A (p.Pro489=)
c.1722C>A (p.Pro574=)
c.1284C>A (p.Pro428=)
c.1584C>A (p.Pro528=)
n.2035C>A
9g.104831691G>ACA374324723ABCA1c.1646C>T (p.Pro549Leu)
c.1466C>T (p.Pro489Leu)
c.1721C>T (p.Pro574Leu)
c.1283C>T (p.Pro428Leu)
c.1583C>T (p.Pro528Leu)
n.2034C>T
9g.104831691G>CCA374324724ABCA1c.1646C>G (p.Pro549Arg)
c.1466C>G (p.Pro489Arg)
c.1721C>G (p.Pro574Arg)
c.1283C>G (p.Pro428Arg)
c.1583C>G (p.Pro528Arg)
n.2034C>G
9g.104831691G>TCA374324725ABCA1c.1646C>A (p.Pro549His)
c.1466C>A (p.Pro489His)
c.1721C>A (p.Pro574His)
c.1283C>A (p.Pro428His)
c.1583C>A (p.Pro528His)
n.2034C>A
9g.104831691_104831693delCA2691053458ABCA1c.1644_1646del (p.Pro549del)
c.1464_1466del (p.Pro489del)
c.1719_1721del (p.Pro574del)
c.1281_1283del (p.Pro428del)
c.1581_1583del (p.Pro528del)
n.2032_2034del
 gnomAD v4
9g.104831692G>ACA374324726ABCA1c.1645C>T (p.Pro549Ser)
c.1465C>T (p.Pro489Ser)
c.1720C>T (p.Pro574Ser)
c.1282C>T (p.Pro428Ser)
c.1582C>T (p.Pro528Ser)
n.2033C>T
9g.104831692G>CCA374324727ABCA1c.1645C>G (p.Pro549Ala)
c.1465C>G (p.Pro489Ala)
c.1720C>G (p.Pro574Ala)
c.1282C>G (p.Pro428Ala)
c.1582C>G (p.Pro528Ala)
n.2033C>G
9g.104831692G>TCA374324728ABCA1c.1645C>A (p.Pro549Thr)
c.1465C>A (p.Pro489Thr)
c.1720C>A (p.Pro574Thr)
c.1282C>A (p.Pro428Thr)
c.1582C>A (p.Pro528Thr)
n.2033C>A
 gnomAD v4
9g.104831693C>ACA466512624ABCA1c.1644G>T (p.Leu548=)
c.1464G>T (p.Leu488=)
c.1719G>T (p.Leu573=)
c.1281G>T (p.Leu427=)
c.1581G>T (p.Leu527=)
n.2032G>T
 gnomAD v4
9g.104831693C>GCA466512626ABCA1c.1644G>C (p.Leu548=)
c.1464G>C (p.Leu488=)
c.1719G>C (p.Leu573=)
c.1281G>C (p.Leu427=)
c.1581G>C (p.Leu527=)
n.2032G>C
9g.104831693C>TCA466512628ABCA1c.1644G>A (p.Leu548=)
c.1464G>A (p.Leu488=)
c.1719G>A (p.Leu573=)
c.1281G>A (p.Leu427=)
c.1581G>A (p.Leu527=)
n.2032G>A
9g.104831694A>CCA374324730ABCA1c.1643T>G (p.Leu548Arg)
c.1463T>G (p.Leu488Arg)
c.1718T>G (p.Leu573Arg)
c.1280T>G (p.Leu427Arg)
c.1580T>G (p.Leu527Arg)
n.2031T>G
9g.104831694A>GCA374324731ABCA1c.1643T>C (p.Leu548Pro)
c.1463T>C (p.Leu488Pro)
c.1718T>C (p.Leu573Pro)
c.1280T>C (p.Leu427Pro)
c.1580T>C (p.Leu527Pro)
n.2031T>C
 gnomAD v4
9g.104831694A>TCA374324729ABCA1c.1643T>A (p.Leu548Gln)
c.1463T>A (p.Leu488Gln)
c.1718T>A (p.Leu573Gln)
c.1280T>A (p.Leu427Gln)
c.1580T>A (p.Leu527Gln)
n.2031T>A
9g.104831694dupCA2691053459ABCA1c.1643dup (p.Pro549AlafsTer13)
c.1463dup (p.Pro489AlafsTer13)
c.1718dup (p.Pro574AlafsTer13)
c.1280dup (p.Pro428AlafsTer13)
c.1580dup (p.Pro528AlafsTer13)
n.2031dup
 gnomAD v4
9g.104831695G>ACA466512638ABCA1c.1642C>T (p.Leu548=)
c.1462C>T (p.Leu488=)
c.1717C>T (p.Leu573=)
c.1279C>T (p.Leu427=)
c.1579C>T (p.Leu527=)
n.2030C>T
9g.104831695G>CCA374324732ABCA1c.1642C>G (p.Leu548Val)
c.1462C>G (p.Leu488Val)
c.1717C>G (p.Leu573Val)
c.1279C>G (p.Leu427Val)
c.1579C>G (p.Leu527Val)
n.2030C>G
 dbSNP gnomAD v3 gnomAD v4
9g.104831695G=CA1869925669ABCA1c.1642C= (p.Leu548=)
c.1462C= (p.Leu488=)
c.1717C= (p.Leu573=)
c.1279C= (p.Leu427=)
c.1579C= (p.Leu527=)
n.2030C=
9g.104831695G>TCA374324733ABCA1c.1642C>A (p.Leu548Met)
c.1462C>A (p.Leu488Met)
c.1717C>A (p.Leu573Met)
c.1279C>A (p.Leu427Met)
c.1579C>A (p.Leu527Met)
n.2030C>A
 gnomAD v4
9g.104831698_104831704delCA2691053460ABCA1c.1636_1642del (p.Ile546CysfsTer?)
c.1456_1462del (p.Ile486CysfsTer?)
c.1711_1717del (p.Ile571CysfsTer?)
c.1273_1279del (p.Ile425CysfsTer?)
c.1573_1579del (p.Ile525CysfsTer?)
n.2024_2030del
 gnomAD v4
9g.104831696C>ACA374324734ABCA1c.1641G>T (p.Glu547Asp)
c.1461G>T (p.Glu487Asp)
c.1716G>T (p.Glu572Asp)
c.1278G>T (p.Glu426Asp)
c.1578G>T (p.Glu526Asp)
n.2029G>T
9g.104831696C=CA1869925674ABCA1c.1641G= (p.Glu547=)
c.1461G= (p.Glu487=)
c.1716G= (p.Glu572=)
c.1278G= (p.Glu426=)
c.1578G= (p.Glu526=)
n.2029G=
9g.104831696C>GCA374324735ABCA1c.1641G>C (p.Glu547Asp)
c.1461G>C (p.Glu487Asp)
c.1716G>C (p.Glu572Asp)
c.1278G>C (p.Glu426Asp)
c.1578G>C (p.Glu526Asp)
n.2029G>C
9g.104831696C>TCA197396962ABCA1c.1641G>A (p.Glu547=)
c.1461G>A (p.Glu487=)
c.1716G>A (p.Glu572=)
c.1278G>A (p.Glu426=)
c.1578G>A (p.Glu526=)
n.2029G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104831697T>ACA374324736ABCA1c.1640A>T (p.Glu547Val)
c.1460A>T (p.Glu487Val)
c.1715A>T (p.Glu572Val)
c.1277A>T (p.Glu426Val)
c.1577A>T (p.Glu526Val)
n.2028A>T
9g.104831697T>CCA374324738ABCA1c.1640A>G (p.Glu547Gly)
c.1460A>G (p.Glu487Gly)
c.1715A>G (p.Glu572Gly)
c.1277A>G (p.Glu426Gly)
c.1577A>G (p.Glu526Gly)
n.2028A>G
9g.104831697T>GCA374324737ABCA1c.1640A>C (p.Glu547Ala)
c.1460A>C (p.Glu487Ala)
c.1715A>C (p.Glu572Ala)
c.1277A>C (p.Glu426Ala)
c.1577A>C (p.Glu526Ala)
n.2028A>C
9g.104831698C>ACA374324739ABCA1c.1639G>T (p.Glu547Ter)
c.1459G>T (p.Glu487Ter)
c.1714G>T (p.Glu572Ter)
c.1276G>T (p.Glu426Ter)
c.1576G>T (p.Glu526Ter)
n.2027G>T
9g.104831698C>GCA374324741ABCA1c.1639G>C (p.Glu547Gln)
c.1459G>C (p.Glu487Gln)
c.1714G>C (p.Glu572Gln)
c.1276G>C (p.Glu426Gln)
c.1576G>C (p.Glu526Gln)
n.2027G>C
9g.104831698C>TCA374324740ABCA1c.1639G>A (p.Glu547Lys)
c.1459G>A (p.Glu487Lys)
c.1714G>A (p.Glu572Lys)
c.1276G>A (p.Glu426Lys)
c.1576G>A (p.Glu526Lys)
n.2027G>A
9g.104831699A>CCA374324742ABCA1c.1638T>G (p.Ile546Met)
c.1458T>G (p.Ile486Met)
c.1713T>G (p.Ile571Met)
c.1275T>G (p.Ile425Met)
c.1575T>G (p.Ile525Met)
n.2026T>G
9g.104831699A>GCA466512665ABCA1c.1638T>C (p.Ile546=)
c.1458T>C (p.Ile486=)
c.1713T>C (p.Ile571=)
c.1275T>C (p.Ile425=)
c.1575T>C (p.Ile525=)
n.2026T>C
9g.104831699A>TCA466512667ABCA1c.1638T>A (p.Ile546=)
c.1458T>A (p.Ile486=)
c.1713T>A (p.Ile571=)
c.1275T>A (p.Ile425=)
c.1575T>A (p.Ile525=)
n.2026T>A
9g.104831700A=CA1869925678ABCA1c.1637T= (p.Ile546=)
c.1457T= (p.Ile486=)
c.1712T= (p.Ile571=)
c.1274T= (p.Ile425=)
c.1574T= (p.Ile525=)
n.2025T=
9g.104831700A>CCA374324743ABCA1c.1637T>G (p.Ile546Ser)
c.1457T>G (p.Ile486Ser)
c.1712T>G (p.Ile571Ser)
c.1274T>G (p.Ile425Ser)
c.1574T>G (p.Ile525Ser)
n.2025T>G
9g.104831700A>GCA5168962ABCA1c.1637T>C (p.Ile546Thr)
c.1457T>C (p.Ile486Thr)
c.1712T>C (p.Ile571Thr)
c.1274T>C (p.Ile425Thr)
c.1574T>C (p.Ile525Thr)
n.2025T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831700A>TCA374324744ABCA1c.1637T>A (p.Ile546Asn)
c.1457T>A (p.Ile486Asn)
c.1712T>A (p.Ile571Asn)
c.1274T>A (p.Ile425Asn)
c.1574T>A (p.Ile525Asn)
n.2025T>A
9g.104831700_104831701delinsATCA1869925681ABCA1c.1636_1637delinsAT (p.Ile546=)
c.1456_1457delinsAT (p.Ile486=)
c.1711_1712delinsAT (p.Ile571=)
c.1273_1274delinsAT (p.Ile425=)
c.1573_1574delinsAT (p.Ile525=)
n.2024_2025delinsAT
9g.104831700_104831702delinsATGCA1869925683ABCA1c.1635_1637delinsCAT (p.Ser545=)
c.1455_1457delinsCAT (p.Ser485=)
c.1710_1712delinsCAT (p.Ser570=)
c.1272_1274delinsCAT (p.Ser424=)
c.1572_1574delinsCAT (p.Ser524=)
n.2023_2025delinsCAT
9g.104831701delCA197396985ABCA1c.1636del (p.Ile546LeufsTer?)
c.1456del (p.Ile486LeufsTer?)
c.1711del (p.Ile571LeufsTer?)
c.1273del (p.Ile425LeufsTer?)
c.1573del (p.Ile525LeufsTer?)
n.2024del
 dbSNP
9g.104831701T>ACA374324745ABCA1c.1636A>T (p.Ile546Phe)
c.1456A>T (p.Ile486Phe)
c.1711A>T (p.Ile571Phe)
c.1273A>T (p.Ile425Phe)
c.1573A>T (p.Ile525Phe)
n.2024A>T
9g.104831701T>CCA5168963ABCA1c.1636A>G (p.Ile546Val)
c.1456A>G (p.Ile486Val)
c.1711A>G (p.Ile571Val)
c.1273A>G (p.Ile425Val)
c.1573A>G (p.Ile525Val)
n.2024A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831701T>GCA374324746ABCA1c.1636A>C (p.Ile546Leu)
c.1456A>C (p.Ile486Leu)
c.1711A>C (p.Ile571Leu)
c.1273A>C (p.Ile425Leu)
c.1573A>C (p.Ile525Leu)
n.2024A>C
9g.104831701T=CA1869925691ABCA1c.1636A= (p.Ile546=)
c.1456A= (p.Ile486=)
c.1711A= (p.Ile571=)
c.1273A= (p.Ile425=)
c.1573A= (p.Ile525=)
n.2024A=
9g.104831701_104831702delinsACA197396982ABCA1c.1635_1636delinsT (p.Ile546LeufsTer?)
c.1455_1456delinsT (p.Ile486LeufsTer?)
c.1710_1711delinsT (p.Ile571LeufsTer?)
c.1272_1273delinsT (p.Ile425LeufsTer?)
c.1572_1573delinsT (p.Ile525LeufsTer?)
n.2023_2024delinsT
 dbSNP
9g.104831704_104831706dupCA5168961ABCA1c.1634_1636dup (p.Ser545_Ile546insSer)
c.1454_1456dup (p.Ser485_Ile486insSer)
c.1709_1711dup (p.Ser570_Ile571insSer)
c.1271_1273dup (p.Ser424_Ile425insSer)
c.1571_1573dup (p.Ser524_Ile525insSer)
n.2022_2024dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831702G>ACA5168964ABCA1c.1635C>T (p.Ser545=)
c.1455C>T (p.Ser485=)
c.1710C>T (p.Ser570=)
c.1272C>T (p.Ser424=)
c.1572C>T (p.Ser524=)
n.2023C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831702G>CCA374324747ABCA1c.1635C>G (p.Ser545Arg)
c.1455C>G (p.Ser485Arg)
c.1710C>G (p.Ser570Arg)
c.1272C>G (p.Ser424Arg)
c.1572C>G (p.Ser524Arg)
n.2023C>G
9g.104831702G=CA1869925711ABCA1c.1635C= (p.Ser545=)
c.1455C= (p.Ser485=)
c.1710C= (p.Ser570=)
c.1272C= (p.Ser424=)
c.1572C= (p.Ser524=)
n.2023C=
9g.104831702G>TCA374324748ABCA1c.1635C>A (p.Ser545Arg)
c.1455C>A (p.Ser485Arg)
c.1710C>A (p.Ser570Arg)
c.1272C>A (p.Ser424Arg)
c.1572C>A (p.Ser524Arg)
n.2023C>A
9g.104831703C>ACA374324750ABCA1c.1634G>T (p.Ser545Ile)
c.1454G>T (p.Ser485Ile)
c.1709G>T (p.Ser570Ile)
c.1271G>T (p.Ser424Ile)
c.1571G>T (p.Ser524Ile)
n.2022G>T
9g.104831703C=CA1869925717ABCA1c.1634G= (p.Ser545=)
c.1454G= (p.Ser485=)
c.1709G= (p.Ser570=)
c.1271G= (p.Ser424=)
c.1571G= (p.Ser524=)
n.2022G=
9g.104831703C>GCA374324749ABCA1c.1634G>C (p.Ser545Thr)
c.1454G>C (p.Ser485Thr)
c.1709G>C (p.Ser570Thr)
c.1271G>C (p.Ser424Thr)
c.1571G>C (p.Ser524Thr)
n.2022G>C
9g.104831703C>TCA5168965ABCA1c.1634G>A (p.Ser545Asn)
c.1454G>A (p.Ser485Asn)
c.1709G>A (p.Ser570Asn)
c.1271G>A (p.Ser424Asn)
c.1571G>A (p.Ser524Asn)
n.2022G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831704T>ACA374324751ABCA1c.1633A>T (p.Ser545Cys)
c.1453A>T (p.Ser485Cys)
c.1708A>T (p.Ser570Cys)
c.1270A>T (p.Ser424Cys)
c.1570A>T (p.Ser524Cys)
n.2021A>T
9g.104831704T>CCA374324752ABCA1c.1633A>G (p.Ser545Gly)
c.1453A>G (p.Ser485Gly)
c.1708A>G (p.Ser570Gly)
c.1270A>G (p.Ser424Gly)
c.1570A>G (p.Ser524Gly)
n.2021A>G
 gnomAD v4
9g.104831704T>GCA374324753ABCA1c.1633A>C (p.Ser545Arg)
c.1453A>C (p.Ser485Arg)
c.1708A>C (p.Ser570Arg)
c.1270A>C (p.Ser424Arg)
c.1570A>C (p.Ser524Arg)
n.2021A>C
9g.104831705G>ACA466512707ABCA1c.1632C>T (p.Gly544=)
c.1452C>T (p.Gly484=)
c.1707C>T (p.Gly569=)
c.1269C>T (p.Gly423=)
c.1569C>T (p.Gly523=)
n.2020C>T
 COSMIC
9g.104831705G>CCA466512705ABCA1c.1632C>G (p.Gly544=)
c.1452C>G (p.Gly484=)
c.1707C>G (p.Gly569=)
c.1269C>G (p.Gly423=)
c.1569C>G (p.Gly523=)
n.2020C>G
9g.104831705G>TCA466512703ABCA1c.1632C>A (p.Gly544=)
c.1452C>A (p.Gly484=)
c.1707C>A (p.Gly569=)
c.1269C>A (p.Gly423=)
c.1569C>A (p.Gly523=)
n.2020C>A
9g.104831706C>ACA374324754ABCA1c.1631G>T (p.Gly544Val)
c.1451G>T (p.Gly484Val)
c.1706G>T (p.Gly569Val)
c.1268G>T (p.Gly423Val)
c.1568G>T (p.Gly523Val)
n.2019G>T
9g.104831706C>GCA374324755ABCA1c.1631G>C (p.Gly544Ala)
c.1451G>C (p.Gly484Ala)
c.1706G>C (p.Gly569Ala)
c.1268G>C (p.Gly423Ala)
c.1568G>C (p.Gly523Ala)
n.2019G>C
9g.104831706C>TCA374324756ABCA1c.1631G>A (p.Gly544Asp)
c.1451G>A (p.Gly484Asp)
c.1706G>A (p.Gly569Asp)
c.1268G>A (p.Gly423Asp)
c.1568G>A (p.Gly523Asp)
n.2019G>A
 gnomAD v4
9g.104831707C>ACA374324757ABCA1c.1630G>T (p.Gly544Cys)
c.1450G>T (p.Gly484Cys)
c.1705G>T (p.Gly569Cys)
c.1267G>T (p.Gly423Cys)
c.1567G>T (p.Gly523Cys)
n.2018G>T
9g.104831707C>GCA374324758ABCA1c.1630G>C (p.Gly544Arg)
c.1450G>C (p.Gly484Arg)
c.1705G>C (p.Gly569Arg)
c.1267G>C (p.Gly423Arg)
c.1567G>C (p.Gly523Arg)
n.2018G>C
9g.104831707C>TCA374324759ABCA1c.1630G>A (p.Gly544Ser)
c.1450G>A (p.Gly484Ser)
c.1705G>A (p.Gly569Ser)
c.1267G>A (p.Gly423Ser)
c.1567G>A (p.Gly523Ser)
n.2018G>A
9g.104831708T>ACA466512724ABCA1c.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
9g.104831708T>CCA466512722ABCA1c.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
9g.104831708T>GCA466512720ABCA1c.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
9g.104831709G>ACA374324762ABCA1c.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
9g.104831709G>CCA374324761ABCA1c.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
9g.104831709G>TCA374324760ABCA1c.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
9g.104831710G>ACA374324763ABCA1c.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
9g.104831710G>CCA374324764ABCA1c.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
9g.104831710G>TCA374324765ABCA1c.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
9g.104831711A=CA1869925722ABCA1c.1626T= (p.Thr542=)
c.1446T= (p.Thr482=)
c.1701T= (p.Thr567=)
c.1263T= (p.Thr421=)
c.1563T= (p.Thr521=)
n.2014T=
9g.104831711A>CCA5168966ABCA1c.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
9g.104831711A>GCA466512741ABCA1c.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
9g.104831711A>TCA466512738ABCA1c.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
9g.104831712G>ACA374324766ABCA1c.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
9g.104831712G>CCA374324767ABCA1c.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
9g.104831712G>TCA374324768ABCA1c.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
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

Number of alleles fetched