Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.104831745T>ACA374324861ABCA1c.1592A>T (p.Lys531Met)
c.1412A>T (p.Lys471Met)
c.1667A>T (p.Lys556Met)
c.1229A>T (p.Lys410Met)
c.1529A>T (p.Lys510Met)
n.1980A>T
9g.104831745T>CCA374324863ABCA1c.1592A>G (p.Lys531Arg)
c.1412A>G (p.Lys471Arg)
c.1667A>G (p.Lys556Arg)
c.1229A>G (p.Lys410Arg)
c.1529A>G (p.Lys510Arg)
n.1980A>G
 gnomAD v4
9g.104831745T>GCA374324865ABCA1c.1592A>C (p.Lys531Thr)
c.1412A>C (p.Lys471Thr)
c.1667A>C (p.Lys556Thr)
c.1229A>C (p.Lys410Thr)
c.1529A>C (p.Lys510Thr)
n.1980A>C
9g.104831746T>ACA374324867ABCA1c.1591A>T (p.Lys531Ter)
c.1411A>T (p.Lys471Ter)
c.1666A>T (p.Lys556Ter)
c.1228A>T (p.Lys410Ter)
c.1528A>T (p.Lys510Ter)
n.1979A>T
9g.104831746T>CCA374324868ABCA1c.1591A>G (p.Lys531Glu)
c.1411A>G (p.Lys471Glu)
c.1666A>G (p.Lys556Glu)
c.1228A>G (p.Lys410Glu)
c.1528A>G (p.Lys510Glu)
n.1979A>G
9g.104831746T>GCA374324869ABCA1c.1591A>C (p.Lys531Gln)
c.1411A>C (p.Lys471Gln)
c.1666A>C (p.Lys556Gln)
c.1228A>C (p.Lys410Gln)
c.1528A>C (p.Lys510Gln)
n.1979A>C
9g.104831747C>ACA374324871ABCA1c.1590G>T (p.Arg530Ser)
c.1410G>T (p.Arg470Ser)
c.1665G>T (p.Arg555Ser)
c.1227G>T (p.Arg409Ser)
c.1527G>T (p.Arg509Ser)
n.1978G>T
 ClinVar
9g.104831747C>GCA374324873ABCA1c.1590G>C (p.Arg530Ser)
c.1410G>C (p.Arg470Ser)
c.1665G>C (p.Arg555Ser)
c.1227G>C (p.Arg409Ser)
c.1527G>C (p.Arg509Ser)
n.1978G>C
 gnomAD v4
9g.104831747C>TCA466512947ABCA1c.1590G>A (p.Arg530=)
c.1410G>A (p.Arg470=)
c.1665G>A (p.Arg555=)
c.1227G>A (p.Arg409=)
c.1527G>A (p.Arg509=)
n.1978G>A
9g.104831748C>ACA374324876ABCA1c.1589G>T (p.Arg530Met)
c.1409G>T (p.Arg470Met)
c.1664G>T (p.Arg555Met)
c.1226G>T (p.Arg409Met)
c.1526G>T (p.Arg509Met)
n.1977G>T
9g.104831748C>GCA374324880ABCA1c.1589G>C (p.Arg530Thr)
c.1409G>C (p.Arg470Thr)
c.1664G>C (p.Arg555Thr)
c.1226G>C (p.Arg409Thr)
c.1526G>C (p.Arg509Thr)
n.1977G>C
9g.104831748C>TCA374324878ABCA1c.1589G>A (p.Arg530Lys)
c.1409G>A (p.Arg470Lys)
c.1664G>A (p.Arg555Lys)
c.1226G>A (p.Arg409Lys)
c.1526G>A (p.Arg509Lys)
n.1977G>A
 gnomAD v4
9g.104831749T>ACA374324883ABCA1c.1588A>T (p.Arg530Trp)
c.1408A>T (p.Arg470Trp)
c.1663A>T (p.Arg555Trp)
c.1225A>T (p.Arg409Trp)
c.1525A>T (p.Arg509Trp)
n.1976A>T
9g.104831749T>CCA374324884ABCA1c.1588A>G (p.Arg530Gly)
c.1408A>G (p.Arg470Gly)
c.1663A>G (p.Arg555Gly)
c.1225A>G (p.Arg409Gly)
c.1525A>G (p.Arg509Gly)
n.1976A>G
9g.104831749T>GCA466512959ABCA1c.1588A>C (p.Arg530=)
c.1408A>C (p.Arg470=)
c.1663A>C (p.Arg555=)
c.1225A>C (p.Arg409=)
c.1525A>C (p.Arg509=)
n.1976A>C
9g.104831750C>ACA374324886ABCA1c.1587G>T (p.Glu529Asp)
c.1407G>T (p.Glu469Asp)
c.1662G>T (p.Glu554Asp)
c.1224G>T (p.Glu408Asp)
c.1524G>T (p.Glu508Asp)
n.1975G>T
9g.104831750C>GCA374324888ABCA1c.1587G>C (p.Glu529Asp)
c.1407G>C (p.Glu469Asp)
c.1662G>C (p.Glu554Asp)
c.1224G>C (p.Glu408Asp)
c.1524G>C (p.Glu508Asp)
n.1975G>C
9g.104831750C>TCA466512966ABCA1c.1587G>A (p.Glu529=)
c.1407G>A (p.Glu469=)
c.1662G>A (p.Glu554=)
c.1224G>A (p.Glu408=)
c.1524G>A (p.Glu508=)
n.1975G>A
 ClinVar gnomAD v4
9g.104831751T>ACA374324890ABCA1c.1586A>T (p.Glu529Val)
c.1406A>T (p.Glu469Val)
c.1661A>T (p.Glu554Val)
c.1223A>T (p.Glu408Val)
c.1523A>T (p.Glu508Val)
n.1974A>T
 dbSNP gnomAD v3 gnomAD v4
9g.104831751T>CCA374324892ABCA1c.1586A>G (p.Glu529Gly)
c.1406A>G (p.Glu469Gly)
c.1661A>G (p.Glu554Gly)
c.1223A>G (p.Glu408Gly)
c.1523A>G (p.Glu508Gly)
n.1974A>G
9g.104831751T>GCA374324894ABCA1c.1586A>C (p.Glu529Ala)
c.1406A>C (p.Glu469Ala)
c.1661A>C (p.Glu554Ala)
c.1223A>C (p.Glu408Ala)
c.1523A>C (p.Glu508Ala)
n.1974A>C
 gnomAD v4
9g.104831751T=CA1869925794ABCA1c.1586A= (p.Glu529=)
c.1406A= (p.Glu469=)
c.1661A= (p.Glu554=)
c.1223A= (p.Glu408=)
c.1523A= (p.Glu508=)
n.1974A=
9g.104831752C>ACA374324897ABCA1c.1585G>T (p.Glu529Ter)
c.1405G>T (p.Glu469Ter)
c.1660G>T (p.Glu554Ter)
c.1222G>T (p.Glu408Ter)
c.1522G>T (p.Glu508Ter)
n.1973G>T
9g.104831752C=CA1869925797ABCA1c.1585G= (p.Glu529=)
c.1405G= (p.Glu469=)
c.1660G= (p.Glu554=)
c.1222G= (p.Glu408=)
c.1522G= (p.Glu508=)
n.1973G=
9g.104831752C>GCA374324899ABCA1c.1585G>C (p.Glu529Gln)
c.1405G>C (p.Glu469Gln)
c.1660G>C (p.Glu554Gln)
c.1222G>C (p.Glu408Gln)
c.1522G>C (p.Glu508Gln)
n.1973G>C
 dbSNP gnomAD v2 gnomAD v4
9g.104831752C>TCA374324901ABCA1c.1585G>A (p.Glu529Lys)
c.1405G>A (p.Glu469Lys)
c.1660G>A (p.Glu554Lys)
c.1222G>A (p.Glu408Lys)
c.1522G>A (p.Glu508Lys)
n.1973G>A
 ClinVar gnomAD v4
9g.104831753A=CA1869925800ABCA1c.1584T= (p.Asp528=)
c.1404T= (p.Asp468=)
c.1659T= (p.Asp553=)
c.1221T= (p.Asp407=)
c.1521T= (p.Asp507=)
n.1972T=
9g.104831753A>CCA374324903ABCA1c.1584T>G (p.Asp528Glu)
c.1404T>G (p.Asp468Glu)
c.1659T>G (p.Asp553Glu)
c.1221T>G (p.Asp407Glu)
c.1521T>G (p.Asp507Glu)
n.1972T>G
 gnomAD v4
9g.104831753A>GCA466512980ABCA1c.1584T>C (p.Asp528=)
c.1404T>C (p.Asp468=)
c.1659T>C (p.Asp553=)
c.1221T>C (p.Asp407=)
c.1521T>C (p.Asp507=)
n.1972T>C
 gnomAD v4
9g.104831753A>TCA374324905ABCA1c.1584T>A (p.Asp528Glu)
c.1404T>A (p.Asp468Glu)
c.1659T>A (p.Asp553Glu)
c.1221T>A (p.Asp407Glu)
c.1521T>A (p.Asp507Glu)
n.1972T>A
 dbSNP gnomAD v4
9g.104831754T>ACA374324909ABCA1c.1583A>T (p.Asp528Val)
c.1403A>T (p.Asp468Val)
c.1658A>T (p.Asp553Val)
c.1220A>T (p.Asp407Val)
c.1520A>T (p.Asp507Val)
n.1971A>T
 gnomAD v4
9g.104831754T>CCA374324911ABCA1c.1583A>G (p.Asp528Gly)
c.1403A>G (p.Asp468Gly)
c.1658A>G (p.Asp553Gly)
c.1220A>G (p.Asp407Gly)
c.1520A>G (p.Asp507Gly)
n.1971A>G
9g.104831754T>GCA374324913ABCA1c.1583A>C (p.Asp528Ala)
c.1403A>C (p.Asp468Ala)
c.1658A>C (p.Asp553Ala)
c.1220A>C (p.Asp407Ala)
c.1520A>C (p.Asp507Ala)
n.1971A>C
9g.104831755C>ACA374324916ABCA1c.1582G>T (p.Asp528Tyr)
c.1402G>T (p.Asp468Tyr)
c.1657G>T (p.Asp553Tyr)
c.1219G>T (p.Asp407Tyr)
c.1519G>T (p.Asp507Tyr)
n.1970G>T
9g.104831755C>GCA374324919ABCA1c.1582G>C (p.Asp528His)
c.1402G>C (p.Asp468His)
c.1657G>C (p.Asp553His)
c.1219G>C (p.Asp407His)
c.1519G>C (p.Asp507His)
n.1970G>C
9g.104831755C>TCA374324917ABCA1c.1582G>A (p.Asp528Asn)
c.1402G>A (p.Asp468Asn)
c.1657G>A (p.Asp553Asn)
c.1219G>A (p.Asp407Asn)
c.1519G>A (p.Asp507Asn)
n.1970G>A
9g.104831756C>ACA466512998ABCA1c.1581G>T (p.Leu527=)
c.1401G>T (p.Leu467=)
c.1656G>T (p.Leu552=)
c.1218G>T (p.Leu406=)
c.1518G>T (p.Leu506=)
n.1969G>T
9g.104831756C=CA1869925806ABCA1c.1581G= (p.Leu527=)
c.1401G= (p.Leu467=)
c.1656G= (p.Leu552=)
c.1218G= (p.Leu406=)
c.1518G= (p.Leu506=)
n.1969G=
9g.104831756C>GCA466513000ABCA1c.1581G>C (p.Leu527=)
c.1401G>C (p.Leu467=)
c.1656G>C (p.Leu552=)
c.1218G>C (p.Leu406=)
c.1518G>C (p.Leu506=)
n.1969G>C
9g.104831756C>TCA466513002ABCA1c.1581G>A (p.Leu527=)
c.1401G>A (p.Leu467=)
c.1656G>A (p.Leu552=)
c.1218G>A (p.Leu406=)
c.1518G>A (p.Leu506=)
n.1969G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104831757A>CCA374324922ABCA1c.1580T>G (p.Leu527Arg)
c.1400T>G (p.Leu467Arg)
c.1655T>G (p.Leu552Arg)
c.1217T>G (p.Leu406Arg)
c.1517T>G (p.Leu506Arg)
n.1968T>G
9g.104831757A>GCA374324923ABCA1c.1580T>C (p.Leu527Pro)
c.1400T>C (p.Leu467Pro)
c.1655T>C (p.Leu552Pro)
c.1217T>C (p.Leu406Pro)
c.1517T>C (p.Leu506Pro)
n.1968T>C
9g.104831757A>TCA374324926ABCA1c.1580T>A (p.Leu527Gln)
c.1400T>A (p.Leu467Gln)
c.1655T>A (p.Leu552Gln)
c.1217T>A (p.Leu406Gln)
c.1517T>A (p.Leu506Gln)
n.1968T>A
9g.104831758G>ACA466513009ABCA1c.1579C>T (p.Leu527=)
c.1399C>T (p.Leu467=)
c.1654C>T (p.Leu552=)
c.1216C>T (p.Leu406=)
c.1516C>T (p.Leu506=)
n.1967C>T
9g.104831758G>CCA374324928ABCA1c.1579C>G (p.Leu527Val)
c.1399C>G (p.Leu467Val)
c.1654C>G (p.Leu552Val)
c.1216C>G (p.Leu406Val)
c.1516C>G (p.Leu506Val)
n.1967C>G
9g.104831758G>TCA374324930ABCA1c.1579C>A (p.Leu527Met)
c.1399C>A (p.Leu467Met)
c.1654C>A (p.Leu552Met)
c.1216C>A (p.Leu406Met)
c.1516C>A (p.Leu506Met)
n.1967C>A
9g.104831759C>ACA466513015ABCA1c.1578G>T (p.Leu526=)
c.1398G>T (p.Leu466=)
c.1653G>T (p.Leu551=)
c.1215G>T (p.Leu405=)
c.1515G>T (p.Leu505=)
n.1966G>T
9g.104831759C=CA1869925811ABCA1c.1578G= (p.Leu526=)
c.1398G= (p.Leu466=)
c.1653G= (p.Leu551=)
c.1215G= (p.Leu405=)
c.1515G= (p.Leu505=)
n.1966G=
9g.104831759C>GCA466513017ABCA1c.1578G>C (p.Leu526=)
c.1398G>C (p.Leu466=)
c.1653G>C (p.Leu551=)
c.1215G>C (p.Leu405=)
c.1515G>C (p.Leu505=)
n.1966G>C
 dbSNP
9g.104831759C>TCA466513013ABCA1c.1578G>A (p.Leu526=)
c.1398G>A (p.Leu466=)
c.1653G>A (p.Leu551=)
c.1215G>A (p.Leu405=)
c.1515G>A (p.Leu505=)
n.1966G>A
9g.104831760A=CA1869925817ABCA1c.1577T= (p.Leu526=)
c.1397T= (p.Leu466=)
c.1652T= (p.Leu551=)
c.1214T= (p.Leu405=)
c.1514T= (p.Leu505=)
n.1965T=
9g.104831760A>CCA374324931ABCA1c.1577T>G (p.Leu526Arg)
c.1397T>G (p.Leu466Arg)
c.1652T>G (p.Leu551Arg)
c.1214T>G (p.Leu405Arg)
c.1514T>G (p.Leu505Arg)
n.1965T>G
9g.104831760A>GCA374324933ABCA1c.1577T>C (p.Leu526Pro)
c.1397T>C (p.Leu466Pro)
c.1652T>C (p.Leu551Pro)
c.1214T>C (p.Leu405Pro)
c.1514T>C (p.Leu505Pro)
n.1965T>C
 dbSNP gnomAD v4
9g.104831760A>TCA374324935ABCA1c.1577T>A (p.Leu526Gln)
c.1397T>A (p.Leu466Gln)
c.1652T>A (p.Leu551Gln)
c.1214T>A (p.Leu405Gln)
c.1514T>A (p.Leu505Gln)
n.1965T>A
9g.104831761G>ACA466513026ABCA1c.1576C>T (p.Leu526=)
c.1396C>T (p.Leu466=)
c.1651C>T (p.Leu551=)
c.1213C>T (p.Leu405=)
c.1513C>T (p.Leu505=)
n.1964C>T
9g.104831761G>CCA374324937ABCA1c.1576C>G (p.Leu526Val)
c.1396C>G (p.Leu466Val)
c.1651C>G (p.Leu551Val)
c.1213C>G (p.Leu405Val)
c.1513C>G (p.Leu505Val)
n.1964C>G
9g.104831761G>TCA374324940ABCA1c.1576C>A (p.Leu526Met)
c.1396C>A (p.Leu466Met)
c.1651C>A (p.Leu551Met)
c.1213C>A (p.Leu405Met)
c.1513C>A (p.Leu505Met)
n.1964C>A
9g.104831762C>ACA374324945ABCA1c.1575G>T (p.Glu525Asp)
c.1395G>T (p.Glu465Asp)
c.1650G>T (p.Glu550Asp)
c.1212G>T (p.Glu404Asp)
c.1512G>T (p.Glu504Asp)
n.1963G>T
9g.104831762C=CA1869925831ABCA1c.1575G= (p.Glu525=)
c.1395G= (p.Glu465=)
c.1650G= (p.Glu550=)
c.1212G= (p.Glu404=)
c.1512G= (p.Glu504=)
n.1963G=
9g.104831762C>GCA374324942ABCA1c.1575G>C (p.Glu525Asp)
c.1395G>C (p.Glu465Asp)
c.1650G>C (p.Glu550Asp)
c.1212G>C (p.Glu404Asp)
c.1512G>C (p.Glu504Asp)
n.1963G>C
9g.104831762C>TCA466513032ABCA1c.1575G>A (p.Glu525=)
c.1395G>A (p.Glu465=)
c.1650G>A (p.Glu550=)
c.1212G>A (p.Glu404=)
c.1512G>A (p.Glu504=)
n.1963G>A
 dbSNP gnomAD v4
9g.104831763T>ACA374324947ABCA1c.1574A>T (p.Glu525Val)
c.1394A>T (p.Glu465Val)
c.1649A>T (p.Glu550Val)
c.1211A>T (p.Glu404Val)
c.1511A>T (p.Glu504Val)
n.1962A>T
9g.104831763T>CCA374324949ABCA1c.1574A>G (p.Glu525Gly)
c.1394A>G (p.Glu465Gly)
c.1649A>G (p.Glu550Gly)
c.1211A>G (p.Glu404Gly)
c.1511A>G (p.Glu504Gly)
n.1962A>G
9g.104831763T>GCA374324951ABCA1c.1574A>C (p.Glu525Ala)
c.1394A>C (p.Glu465Ala)
c.1649A>C (p.Glu550Ala)
c.1211A>C (p.Glu404Ala)
c.1511A>C (p.Glu504Ala)
n.1962A>C
9g.104831764C>ACA374324954ABCA1c.1573G>T (p.Glu525Ter)
c.1393G>T (p.Glu465Ter)
c.1648G>T (p.Glu550Ter)
c.1210G>T (p.Glu404Ter)
c.1510G>T (p.Glu504Ter)
n.1961G>T
9g.104831764C>GCA374324956ABCA1c.1573G>C (p.Glu525Gln)
c.1393G>C (p.Glu465Gln)
c.1648G>C (p.Glu550Gln)
c.1210G>C (p.Glu404Gln)
c.1510G>C (p.Glu504Gln)
n.1961G>C
9g.104831764C>TCA374324958ABCA1c.1573G>A (p.Glu525Lys)
c.1393G>A (p.Glu465Lys)
c.1648G>A (p.Glu550Lys)
c.1210G>A (p.Glu404Lys)
c.1510G>A (p.Glu504Lys)
n.1961G>A
9g.104831765C>ACA374324961ABCA1c.1572G>T (p.Met524Ile)
c.1392G>T (p.Met464Ile)
c.1647G>T (p.Met549Ile)
c.1209G>T (p.Met403Ile)
c.1509G>T (p.Met503Ile)
n.1960G>T
9g.104831765C>GCA374324963ABCA1c.1572G>C (p.Met524Ile)
c.1392G>C (p.Met464Ile)
c.1647G>C (p.Met549Ile)
c.1209G>C (p.Met403Ile)
c.1509G>C (p.Met503Ile)
n.1960G>C
9g.104831765C>TCA374324965ABCA1c.1572G>A (p.Met524Ile)
c.1392G>A (p.Met464Ile)
c.1647G>A (p.Met549Ile)
c.1209G>A (p.Met403Ile)
c.1509G>A (p.Met503Ile)
n.1960G>A
9g.104831766A=CA1869925835ABCA1c.1571T= (p.Met524=)
c.1391T= (p.Met464=)
c.1646T= (p.Met549=)
c.1208T= (p.Met403=)
c.1508T= (p.Met503=)
n.1959T=
9g.104831766A>CCA374324968ABCA1c.1571T>G (p.Met524Arg)
c.1391T>G (p.Met464Arg)
c.1646T>G (p.Met549Arg)
c.1208T>G (p.Met403Arg)
c.1508T>G (p.Met503Arg)
n.1959T>G
 gnomAD v4
9g.104831766A>GCA197397048ABCA1c.1571T>C (p.Met524Thr)
c.1391T>C (p.Met464Thr)
c.1646T>C (p.Met549Thr)
c.1208T>C (p.Met403Thr)
c.1508T>C (p.Met503Thr)
n.1959T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831766A>TCA374324972ABCA1c.1571T>A (p.Met524Lys)
c.1391T>A (p.Met464Lys)
c.1646T>A (p.Met549Lys)
c.1208T>A (p.Met403Lys)
c.1508T>A (p.Met503Lys)
n.1959T>A
9g.104831767T>ACA374324977ABCA1c.1570A>T (p.Met524Leu)
c.1390A>T (p.Met464Leu)
c.1645A>T (p.Met549Leu)
c.1207A>T (p.Met403Leu)
c.1507A>T (p.Met503Leu)
n.1958A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104831767T>CCA197397051ABCA1c.1570A>G (p.Met524Val)
c.1390A>G (p.Met464Val)
c.1645A>G (p.Met549Val)
c.1207A>G (p.Met403Val)
c.1507A>G (p.Met503Val)
n.1958A>G
 dbSNP gnomAD v4
9g.104831767T>GCA374324974ABCA1c.1570A>C (p.Met524Leu)
c.1390A>C (p.Met464Leu)
c.1645A>C (p.Met549Leu)
c.1207A>C (p.Met403Leu)
c.1507A>C (p.Met503Leu)
n.1958A>C
9g.104831767T=CA1869925844ABCA1c.1570A= (p.Met524=)
c.1390A= (p.Met464=)
c.1645A= (p.Met549=)
c.1207A= (p.Met403=)
c.1507A= (p.Met503=)
n.1958A=
9g.104831768G>ACA466513063ABCA1c.1569C>T (p.Ser523=)
c.1389C>T (p.Ser463=)
c.1644C>T (p.Ser548=)
c.1206C>T (p.Ser402=)
c.1506C>T (p.Ser502=)
n.1957C>T
9g.104831768G>CCA466513065ABCA1c.1569C>G (p.Ser523=)
c.1389C>G (p.Ser463=)
c.1644C>G (p.Ser548=)
c.1206C>G (p.Ser402=)
c.1506C>G (p.Ser502=)
n.1957C>G
9g.104831768G>TCA466513067ABCA1c.1569C>A (p.Ser523=)
c.1389C>A (p.Ser463=)
c.1644C>A (p.Ser548=)
c.1206C>A (p.Ser402=)
c.1506C>A (p.Ser502=)
n.1957C>A
9g.104831769G>ACA5168969ABCA1c.1568C>T (p.Ser523Phe)
c.1388C>T (p.Ser463Phe)
c.1643C>T (p.Ser548Phe)
c.1205C>T (p.Ser402Phe)
c.1505C>T (p.Ser502Phe)
n.1956C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831769G>CCA374324981ABCA1c.1568C>G (p.Ser523Cys)
c.1388C>G (p.Ser463Cys)
c.1643C>G (p.Ser548Cys)
c.1205C>G (p.Ser402Cys)
c.1505C>G (p.Ser502Cys)
n.1956C>G
9g.104831769G=CA1869925854ABCA1c.1568C= (p.Ser523=)
c.1388C= (p.Ser463=)
c.1643C= (p.Ser548=)
c.1205C= (p.Ser402=)
c.1505C= (p.Ser502=)
n.1956C=
9g.104831769G>TCA374324983ABCA1c.1568C>A (p.Ser523Tyr)
c.1388C>A (p.Ser463Tyr)
c.1643C>A (p.Ser548Tyr)
c.1205C>A (p.Ser402Tyr)
c.1505C>A (p.Ser502Tyr)
n.1956C>A
 gnomAD v4
9g.104831770A>CCA374324985ABCA1c.1567T>G (p.Ser523Ala)
c.1387T>G (p.Ser463Ala)
c.1642T>G (p.Ser548Ala)
c.1204T>G (p.Ser402Ala)
c.1504T>G (p.Ser502Ala)
n.1955T>G
9g.104831770A>GCA374324987ABCA1c.1567T>C (p.Ser523Pro)
c.1387T>C (p.Ser463Pro)
c.1642T>C (p.Ser548Pro)
c.1204T>C (p.Ser402Pro)
c.1504T>C (p.Ser502Pro)
n.1955T>C
9g.104831770A>TCA374324989ABCA1c.1567T>A (p.Ser523Thr)
c.1387T>A (p.Ser463Thr)
c.1642T>A (p.Ser548Thr)
c.1204T>A (p.Ser402Thr)
c.1504T>A (p.Ser502Thr)
n.1955T>A
9g.104831771C>ACA374324992ABCA1c.1566G>T (p.Lys522Asn)
c.1386G>T (p.Lys462Asn)
c.1641G>T (p.Lys547Asn)
c.1203G>T (p.Lys401Asn)
c.1503G>T (p.Lys501Asn)
n.1954G>T
 COSMIC
9g.104831771C=CA1869925863ABCA1c.1566G= (p.Lys522=)
c.1386G= (p.Lys462=)
c.1641G= (p.Lys547=)
c.1203G= (p.Lys401=)
c.1503G= (p.Lys501=)
n.1954G=
9g.104831771C>GCA374324994ABCA1c.1566G>C (p.Lys522Asn)
c.1386G>C (p.Lys462Asn)
c.1641G>C (p.Lys547Asn)
c.1203G>C (p.Lys401Asn)
c.1503G>C (p.Lys501Asn)
n.1954G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831771C>TCA5168970ABCA1c.1566G>A (p.Lys522=)
c.1386G>A (p.Lys462=)
c.1641G>A (p.Lys547=)
c.1203G>A (p.Lys401=)
c.1503G>A (p.Lys501=)
n.1954G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831772T>ACA374324997ABCA1c.1565A>T (p.Lys522Met)
c.1385A>T (p.Lys462Met)
c.1640A>T (p.Lys547Met)
c.1202A>T (p.Lys401Met)
c.1502A>T (p.Lys501Met)
n.1953A>T
9g.104831772T>CCA374325000ABCA1c.1565A>G (p.Lys522Arg)
c.1385A>G (p.Lys462Arg)
c.1640A>G (p.Lys547Arg)
c.1202A>G (p.Lys401Arg)
c.1502A>G (p.Lys501Arg)
n.1953A>G
 gnomAD v4
9g.104831772T>GCA197397054ABCA1c.1565A>C (p.Lys522Thr)
c.1385A>C (p.Lys462Thr)
c.1640A>C (p.Lys547Thr)
c.1202A>C (p.Lys401Thr)
c.1502A>C (p.Lys501Thr)
n.1953A>C
 dbSNP
9g.104831772T=CA1869925870ABCA1c.1565A= (p.Lys522=)
c.1385A= (p.Lys462=)
c.1640A= (p.Lys547=)
c.1202A= (p.Lys401=)
c.1502A= (p.Lys501=)
n.1953A=
9g.104831775_104831777delCA2691053462ABCA1c.1563_1565del (p.Asn521del)
c.1383_1385del (p.Asn461del)
c.1638_1640del (p.Asn546del)
c.1200_1202del (p.Asn400del)
c.1500_1502del (p.Asn500del)
n.1951_1953del
 gnomAD v4
9g.104831773T>ACA374325007ABCA1c.1564A>T (p.Lys522Ter)
c.1384A>T (p.Lys462Ter)
c.1639A>T (p.Lys547Ter)
c.1201A>T (p.Lys401Ter)
c.1501A>T (p.Lys501Ter)
n.1952A>T
9g.104831773T>CCA374325005ABCA1c.1564A>G (p.Lys522Glu)
c.1384A>G (p.Lys462Glu)
c.1639A>G (p.Lys547Glu)
c.1201A>G (p.Lys401Glu)
c.1501A>G (p.Lys501Glu)
n.1952A>G
9g.104831773T>GCA374325003ABCA1c.1564A>C (p.Lys522Gln)
c.1384A>C (p.Lys462Gln)
c.1639A>C (p.Lys547Gln)
c.1201A>C (p.Lys401Gln)
c.1501A>C (p.Lys501Gln)
n.1952A>C
9g.104831774G>ACA466513096ABCA1c.1563C>T (p.Asn521=)
c.1383C>T (p.Asn461=)
c.1638C>T (p.Asn546=)
c.1200C>T (p.Asn400=)
c.1500C>T (p.Asn500=)
n.1951C>T
9g.104831774G>CCA374325010ABCA1c.1563C>G (p.Asn521Lys)
c.1383C>G (p.Asn461Lys)
c.1638C>G (p.Asn546Lys)
c.1200C>G (p.Asn400Lys)
c.1500C>G (p.Asn500Lys)
n.1951C>G
 gnomAD v4
9g.104831774G>TCA374325012ABCA1c.1563C>A (p.Asn521Lys)
c.1383C>A (p.Asn461Lys)
c.1638C>A (p.Asn546Lys)
c.1200C>A (p.Asn400Lys)
c.1500C>A (p.Asn500Lys)
n.1951C>A
9g.104831775T>ACA374325014ABCA1c.1562A>T (p.Asn521Ile)
c.1382A>T (p.Asn461Ile)
c.1637A>T (p.Asn546Ile)
c.1199A>T (p.Asn400Ile)
c.1499A>T (p.Asn500Ile)
n.1950A>T
9g.104831775T>CCA374325016ABCA1c.1562A>G (p.Asn521Ser)
c.1382A>G (p.Asn461Ser)
c.1637A>G (p.Asn546Ser)
c.1199A>G (p.Asn400Ser)
c.1499A>G (p.Asn500Ser)
n.1950A>G
 gnomAD v4
9g.104831775T>GCA374325017ABCA1c.1562A>C (p.Asn521Thr)
c.1382A>C (p.Asn461Thr)
c.1637A>C (p.Asn546Thr)
c.1199A>C (p.Asn400Thr)
c.1499A>C (p.Asn500Thr)
n.1950A>C
9g.104831776T>ACA374325021ABCA1c.1561A>T (p.Asn521Tyr)
c.1381A>T (p.Asn461Tyr)
c.1636A>T (p.Asn546Tyr)
c.1198A>T (p.Asn400Tyr)
c.1498A>T (p.Asn500Tyr)
n.1949A>T
9g.104831776T>CCA374325023ABCA1c.1561A>G (p.Asn521Asp)
c.1381A>G (p.Asn461Asp)
c.1636A>G (p.Asn546Asp)
c.1198A>G (p.Asn400Asp)
c.1498A>G (p.Asn500Asp)
n.1949A>G
9g.104831776T>GCA374325024ABCA1c.1561A>C (p.Asn521His)
c.1381A>C (p.Asn461His)
c.1636A>C (p.Asn546His)
c.1198A>C (p.Asn400His)
c.1498A>C (p.Asn500His)
n.1949A>C
9g.104831777G>ACA466513113ABCA1c.1560C>T (p.Ile520=)
c.1380C>T (p.Ile460=)
c.1635C>T (p.Ile545=)
c.1197C>T (p.Ile399=)
c.1497C>T (p.Ile499=)
n.1948C>T
9g.104831777G>CCA374325027ABCA1c.1560C>G (p.Ile520Met)
c.1380C>G (p.Ile460Met)
c.1635C>G (p.Ile545Met)
c.1197C>G (p.Ile399Met)
c.1497C>G (p.Ile499Met)
n.1948C>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831777G=CA1869925875ABCA1c.1560C= (p.Ile520=)
c.1380C= (p.Ile460=)
c.1635C= (p.Ile545=)
c.1197C= (p.Ile399=)
c.1497C= (p.Ile499=)
n.1948C=
9g.104831777G>TCA466513117ABCA1c.1560C>A (p.Ile520=)
c.1380C>A (p.Ile460=)
c.1635C>A (p.Ile545=)
c.1197C>A (p.Ile399=)
c.1497C>A (p.Ile499=)
n.1948C>A
9g.104831778A>CCA374325030ABCA1c.1559T>G (p.Ile520Ser)
c.1379T>G (p.Ile460Ser)
c.1634T>G (p.Ile545Ser)
c.1196T>G (p.Ile399Ser)
c.1496T>G (p.Ile499Ser)
n.1947T>G
9g.104831778A>GCA374325032ABCA1c.1559T>C (p.Ile520Thr)
c.1379T>C (p.Ile460Thr)
c.1634T>C (p.Ile545Thr)
c.1196T>C (p.Ile399Thr)
c.1496T>C (p.Ile499Thr)
n.1947T>C
9g.104831778A>TCA374325034ABCA1c.1559T>A (p.Ile520Asn)
c.1379T>A (p.Ile460Asn)
c.1634T>A (p.Ile545Asn)
c.1196T>A (p.Ile399Asn)
c.1496T>A (p.Ile499Asn)
n.1947T>A
9g.104831779T>ACA374325037ABCA1c.1558A>T (p.Ile520Phe)
c.1378A>T (p.Ile460Phe)
c.1633A>T (p.Ile545Phe)
c.1195A>T (p.Ile399Phe)
c.1495A>T (p.Ile499Phe)
n.1946A>T
9g.104831779T>CCA374325039ABCA1c.1558A>G (p.Ile520Val)
c.1378A>G (p.Ile460Val)
c.1633A>G (p.Ile545Val)
c.1195A>G (p.Ile399Val)
c.1495A>G (p.Ile499Val)
n.1946A>G
 gnomAD v4
9g.104831779T>GCA374325041ABCA1c.1558A>C (p.Ile520Leu)
c.1378A>C (p.Ile460Leu)
c.1633A>C (p.Ile545Leu)
c.1195A>C (p.Ile399Leu)
c.1495A>C (p.Ile499Leu)
n.1946A>C
9g.104831780G>ACA466513129ABCA1c.1557C>T (p.Leu519=)
c.1377C>T (p.Leu459=)
c.1632C>T (p.Leu544=)
c.1194C>T (p.Leu398=)
c.1494C>T (p.Leu498=)
n.1945C>T
9g.104831780G>CCA466513132ABCA1c.1557C>G (p.Leu519=)
c.1377C>G (p.Leu459=)
c.1632C>G (p.Leu544=)
c.1194C>G (p.Leu398=)
c.1494C>G (p.Leu498=)
n.1945C>G
9g.104831780G>TCA466513131ABCA1c.1557C>A (p.Leu519=)
c.1377C>A (p.Leu459=)
c.1632C>A (p.Leu544=)
c.1194C>A (p.Leu398=)
c.1494C>A (p.Leu498=)
n.1945C>A
9g.104831781A>CCA374325044ABCA1c.1556T>G (p.Leu519Arg)
c.1376T>G (p.Leu459Arg)
c.1631T>G (p.Leu544Arg)
c.1193T>G (p.Leu398Arg)
c.1493T>G (p.Leu498Arg)
n.1944T>G
9g.104831781A>GCA374325048ABCA1c.1556T>C (p.Leu519Pro)
c.1376T>C (p.Leu459Pro)
c.1631T>C (p.Leu544Pro)
c.1193T>C (p.Leu398Pro)
c.1493T>C (p.Leu498Pro)
n.1944T>C
9g.104831781A>TCA374325046ABCA1c.1556T>A (p.Leu519His)
c.1376T>A (p.Leu459His)
c.1631T>A (p.Leu544His)
c.1193T>A (p.Leu398His)
c.1493T>A (p.Leu498His)
n.1944T>A
9g.104831782G>ACA374325051ABCA1c.1555C>T (p.Leu519Phe)
c.1375C>T (p.Leu459Phe)
c.1630C>T (p.Leu544Phe)
c.1192C>T (p.Leu398Phe)
c.1492C>T (p.Leu498Phe)
n.1943C>T
9g.104831782G>CCA374325053ABCA1c.1555C>G (p.Leu519Val)
c.1375C>G (p.Leu459Val)
c.1630C>G (p.Leu544Val)
c.1192C>G (p.Leu398Val)
c.1492C>G (p.Leu498Val)
n.1943C>G
9g.104831782G>TCA374325055ABCA1c.1555C>A (p.Leu519Ile)
c.1375C>A (p.Leu459Ile)
c.1630C>A (p.Leu544Ile)
c.1192C>A (p.Leu398Ile)
c.1492C>A (p.Leu498Ile)
n.1943C>A
9g.104831783C>ACA374325058ABCA1c.1554G>T (p.Trp518Cys)
c.1374G>T (p.Trp458Cys)
c.1629G>T (p.Trp543Cys)
c.1191G>T (p.Trp397Cys)
c.1491G>T (p.Trp497Cys)
n.1942G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831783C=CA1869925878ABCA1c.1554G= (p.Trp518=)
c.1374G= (p.Trp458=)
c.1629G= (p.Trp543=)
c.1191G= (p.Trp397=)
c.1491G= (p.Trp497=)
n.1942G=
9g.104831783C>GCA374325060ABCA1c.1554G>C (p.Trp518Cys)
c.1374G>C (p.Trp458Cys)
c.1629G>C (p.Trp543Cys)
c.1191G>C (p.Trp397Cys)
c.1491G>C (p.Trp497Cys)
n.1942G>C
9g.104831783C>TCA374325062ABCA1c.1554G>A (p.Trp518Ter)
c.1374G>A (p.Trp458Ter)
c.1629G>A (p.Trp543Ter)
c.1191G>A (p.Trp397Ter)
c.1491G>A (p.Trp497Ter)
n.1942G>A
9g.104831784C>ACA374325064ABCA1c.1553G>T (p.Trp518Leu)
c.1373G>T (p.Trp458Leu)
c.1628G>T (p.Trp543Leu)
c.1190G>T (p.Trp397Leu)
c.1490G>T (p.Trp497Leu)
n.1941G>T
9g.104831784C>GCA374325066ABCA1c.1553G>C (p.Trp518Ser)
c.1373G>C (p.Trp458Ser)
c.1628G>C (p.Trp543Ser)
c.1190G>C (p.Trp397Ser)
c.1490G>C (p.Trp497Ser)
n.1941G>C
9g.104831784C>TCA374325068ABCA1c.1553G>A (p.Trp518Ter)
c.1373G>A (p.Trp458Ter)
c.1628G>A (p.Trp543Ter)
c.1190G>A (p.Trp397Ter)
c.1490G>A (p.Trp497Ter)
n.1941G>A
9g.104831785A>CCA374325072ABCA1c.1552T>G (p.Trp518Gly)
c.1372T>G (p.Trp458Gly)
c.1627T>G (p.Trp543Gly)
c.1189T>G (p.Trp397Gly)
c.1489T>G (p.Trp497Gly)
n.1940T>G
9g.104831785A>GCA374325073ABCA1c.1552T>C (p.Trp518Arg)
c.1372T>C (p.Trp458Arg)
c.1627T>C (p.Trp543Arg)
c.1189T>C (p.Trp397Arg)
c.1489T>C (p.Trp497Arg)
n.1940T>C
9g.104831785A>TCA374325075ABCA1c.1552T>A (p.Trp518Arg)
c.1372T>A (p.Trp458Arg)
c.1627T>A (p.Trp543Arg)
c.1189T>A (p.Trp397Arg)
c.1489T>A (p.Trp497Arg)
n.1940T>A
9g.104831786G>ACA466513172ABCA1c.1551C>T (p.Val517=)
c.1371C>T (p.Val457=)
c.1626C>T (p.Val542=)
c.1188C>T (p.Val396=)
c.1488C>T (p.Val496=)
n.1939C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831786G>CCA466513174ABCA1c.1551C>G (p.Val517=)
c.1371C>G (p.Val457=)
c.1626C>G (p.Val542=)
c.1188C>G (p.Val396=)
c.1488C>G (p.Val496=)
n.1939C>G
9g.104831786G=CA1869925881ABCA1c.1551C= (p.Val517=)
c.1371C= (p.Val457=)
c.1626C= (p.Val542=)
c.1188C= (p.Val396=)
c.1488C= (p.Val496=)
n.1939C=
9g.104831786G>TCA466513177ABCA1c.1551C>A (p.Val517=)
c.1371C>A (p.Val457=)
c.1626C>A (p.Val542=)
c.1188C>A (p.Val396=)
c.1488C>A (p.Val496=)
n.1939C>A
9g.104831787A>CCA374325078ABCA1c.1550T>G (p.Val517Gly)
c.1370T>G (p.Val457Gly)
c.1625T>G (p.Val542Gly)
c.1187T>G (p.Val396Gly)
c.1487T>G (p.Val496Gly)
n.1938T>G
9g.104831787A>GCA374325081ABCA1c.1550T>C (p.Val517Ala)
c.1370T>C (p.Val457Ala)
c.1625T>C (p.Val542Ala)
c.1187T>C (p.Val396Ala)
c.1487T>C (p.Val496Ala)
n.1938T>C
9g.104831787A>TCA374325080ABCA1c.1550T>A (p.Val517Asp)
c.1370T>A (p.Val457Asp)
c.1625T>A (p.Val542Asp)
c.1187T>A (p.Val396Asp)
c.1487T>A (p.Val496Asp)
n.1938T>A
9g.104831788C>ACA374325083ABCA1c.1549G>T (p.Val517Phe)
c.1369G>T (p.Val457Phe)
c.1624G>T (p.Val542Phe)
c.1186G>T (p.Val396Phe)
c.1486G>T (p.Val496Phe)
n.1937G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831788C=CA1869925888ABCA1c.1549G= (p.Val517=)
c.1369G= (p.Val457=)
c.1624G= (p.Val542=)
c.1186G= (p.Val396=)
c.1486G= (p.Val496=)
n.1937G=
9g.104831788C>GCA374325084ABCA1c.1549G>C (p.Val517Leu)
c.1369G>C (p.Val457Leu)
c.1624G>C (p.Val542Leu)
c.1186G>C (p.Val396Leu)
c.1486G>C (p.Val496Leu)
n.1937G>C
 gnomAD v4
9g.104831788C>TCA374325087ABCA1c.1549G>A (p.Val517Ile)
c.1369G>A (p.Val457Ile)
c.1624G>A (p.Val542Ile)
c.1186G>A (p.Val396Ile)
c.1486G>A (p.Val496Ile)
n.1937G>A
 dbSNP gnomAD v2 gnomAD v4
9g.104831789T>ACA374325090ABCA1c.1548A>T (p.Glu516Asp)
c.1368A>T (p.Glu456Asp)
c.1623A>T (p.Glu541Asp)
c.1185A>T (p.Glu395Asp)
c.1485A>T (p.Glu495Asp)
n.1936A>T
9g.104831789T>CCA466513190ABCA1c.1548A>G (p.Glu516=)
c.1368A>G (p.Glu456=)
c.1623A>G (p.Glu541=)
c.1185A>G (p.Glu395=)
c.1485A>G (p.Glu495=)
n.1936A>G
9g.104831789T>GCA374325091ABCA1c.1548A>C (p.Glu516Asp)
c.1368A>C (p.Glu456Asp)
c.1623A>C (p.Glu541Asp)
c.1185A>C (p.Glu395Asp)
c.1485A>C (p.Glu495Asp)
n.1936A>C
9g.104831790T>ACA374325094ABCA1c.1547A>T (p.Glu516Val)
c.1367A>T (p.Glu456Val)
c.1622A>T (p.Glu541Val)
c.1184A>T (p.Glu395Val)
c.1484A>T (p.Glu495Val)
n.1935A>T
9g.104831790T>CCA374325096ABCA1c.1547A>G (p.Glu516Gly)
c.1367A>G (p.Glu456Gly)
c.1622A>G (p.Glu541Gly)
c.1184A>G (p.Glu395Gly)
c.1484A>G (p.Glu495Gly)
n.1935A>G
9g.104831790T>GCA374325098ABCA1c.1547A>C (p.Glu516Ala)
c.1367A>C (p.Glu456Ala)
c.1622A>C (p.Glu541Ala)
c.1184A>C (p.Glu395Ala)
c.1484A>C (p.Glu495Ala)
n.1935A>C
9g.104831791C>ACA197397057ABCA1c.1546G>T (p.Glu516Ter)
c.1366G>T (p.Glu456Ter)
c.1621G>T (p.Glu541Ter)
c.1183G>T (p.Glu395Ter)
c.1483G>T (p.Glu495Ter)
n.1934G>T
 dbSNP gnomAD v3 gnomAD v4
9g.104831791C=CA1869925892ABCA1c.1546G= (p.Glu516=)
c.1366G= (p.Glu456=)
c.1621G= (p.Glu541=)
c.1183G= (p.Glu395=)
c.1483G= (p.Glu495=)
n.1934G=
9g.104831791C>GCA374325102ABCA1c.1546G>C (p.Glu516Gln)
c.1366G>C (p.Glu456Gln)
c.1621G>C (p.Glu541Gln)
c.1183G>C (p.Glu395Gln)
c.1483G>C (p.Glu495Gln)
n.1934G>C
9g.104831791C>TCA374325104ABCA1c.1546G>A (p.Glu516Lys)
c.1366G>A (p.Glu456Lys)
c.1621G>A (p.Glu541Lys)
c.1183G>A (p.Glu395Lys)
c.1483G>A (p.Glu495Lys)
n.1934G>A
9g.104831792T>ACA466513207ABCA1c.1545A>T (p.Thr515=)
c.1365A>T (p.Thr455=)
c.1620A>T (p.Thr540=)
c.1182A>T (p.Thr394=)
c.1482A>T (p.Thr494=)
n.1933A>T
9g.104831792T>CCA466513208ABCA1c.1545A>G (p.Thr515=)
c.1365A>G (p.Thr455=)
c.1620A>G (p.Thr540=)
c.1182A>G (p.Thr394=)
c.1482A>G (p.Thr494=)
n.1933A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831792T>GCA466513213ABCA1c.1545A>C (p.Thr515=)
c.1365A>C (p.Thr455=)
c.1620A>C (p.Thr540=)
c.1182A>C (p.Thr394=)
c.1482A>C (p.Thr494=)
n.1933A>C
 gnomAD v4
9g.104831792T=CA1869925897ABCA1c.1545A= (p.Thr515=)
c.1365A= (p.Thr455=)
c.1620A= (p.Thr540=)
c.1182A= (p.Thr394=)
c.1482A= (p.Thr494=)
n.1933A=
9g.104831793G>ACA374325111ABCA1c.1544C>T (p.Thr515Ile)
c.1364C>T (p.Thr455Ile)
c.1619C>T (p.Thr540Ile)
c.1181C>T (p.Thr394Ile)
c.1481C>T (p.Thr494Ile)
n.1932C>T
9g.104831793G>CCA374325109ABCA1c.1544C>G (p.Thr515Arg)
c.1364C>G (p.Thr455Arg)
c.1619C>G (p.Thr540Arg)
c.1181C>G (p.Thr394Arg)
c.1481C>G (p.Thr494Arg)
n.1932C>G
9g.104831793G>TCA374325107ABCA1c.1544C>A (p.Thr515Lys)
c.1364C>A (p.Thr455Lys)
c.1619C>A (p.Thr540Lys)
c.1181C>A (p.Thr394Lys)
c.1481C>A (p.Thr494Lys)
n.1932C>A
9g.104831794T>ACA374325113ABCA1c.1543A>T (p.Thr515Ser)
c.1363A>T (p.Thr455Ser)
c.1618A>T (p.Thr540Ser)
c.1180A>T (p.Thr394Ser)
c.1480A>T (p.Thr494Ser)
n.1931A>T
9g.104831794T>CCA5168971ABCA1c.1543A>G (p.Thr515Ala)
c.1363A>G (p.Thr455Ala)
c.1618A>G (p.Thr540Ala)
c.1180A>G (p.Thr394Ala)
c.1480A>G (p.Thr494Ala)
n.1931A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831794T>GCA374325116ABCA1c.1543A>C (p.Thr515Pro)
c.1363A>C (p.Thr455Pro)
c.1618A>C (p.Thr540Pro)
c.1180A>C (p.Thr394Pro)
c.1480A>C (p.Thr494Pro)
n.1931A>C
9g.104831794T=CA1869925901ABCA1c.1543A= (p.Thr515=)
c.1363A= (p.Thr455=)
c.1618A= (p.Thr540=)
c.1180A= (p.Thr394=)
c.1480A= (p.Thr494=)
n.1931A=
9g.104831795T>ACA466513226ABCA1c.1542A>T (p.Ala514=)
c.1362A>T (p.Ala454=)
c.1617A>T (p.Ala539=)
c.1179A>T (p.Ala393=)
c.1479A>T (p.Ala493=)
n.1930A>T
9g.104831795T>CCA466513228ABCA1c.1542A>G (p.Ala514=)
c.1362A>G (p.Ala454=)
c.1617A>G (p.Ala539=)
c.1179A>G (p.Ala393=)
c.1479A>G (p.Ala493=)
n.1930A>G
9g.104831795T>GCA466513231ABCA1c.1542A>C (p.Ala514=)
c.1362A>C (p.Ala454=)
c.1617A>C (p.Ala539=)
c.1179A>C (p.Ala393=)
c.1479A>C (p.Ala493=)
n.1930A>C
9g.104831796G>ACA374325118ABCA1c.1541C>T (p.Ala514Val)
c.1361C>T (p.Ala454Val)
c.1616C>T (p.Ala539Val)
c.1178C>T (p.Ala393Val)
c.1478C>T (p.Ala493Val)
n.1929C>T
 ClinVar gnomAD v4
9g.104831796G>CCA374325120ABCA1c.1541C>G (p.Ala514Gly)
c.1361C>G (p.Ala454Gly)
c.1616C>G (p.Ala539Gly)
c.1178C>G (p.Ala393Gly)
c.1478C>G (p.Ala493Gly)
n.1929C>G
9g.104831796G>TCA374325122ABCA1c.1541C>A (p.Ala514Glu)
c.1361C>A (p.Ala454Glu)
c.1616C>A (p.Ala539Glu)
c.1178C>A (p.Ala393Glu)
c.1478C>A (p.Ala493Glu)
n.1929C>A
9g.104831797C>ACA374325125ABCA1c.1540G>T (p.Ala514Ser)
c.1360G>T (p.Ala454Ser)
c.1615G>T (p.Ala539Ser)
c.1177G>T (p.Ala393Ser)
c.1477G>T (p.Ala493Ser)
n.1928G>T
9g.104831797C>GCA374325127ABCA1c.1540G>C (p.Ala514Pro)
c.1360G>C (p.Ala454Pro)
c.1615G>C (p.Ala539Pro)
c.1177G>C (p.Ala393Pro)
c.1477G>C (p.Ala493Pro)
n.1928G>C
9g.104831797C>TCA374325129ABCA1c.1540G>A (p.Ala514Thr)
c.1360G>A (p.Ala454Thr)
c.1615G>A (p.Ala539Thr)
c.1177G>A (p.Ala393Thr)
c.1477G>A (p.Ala493Thr)
n.1928G>A
9g.104831798T>ACA466513245ABCA1c.1539A>T (p.Ile513=)
c.1359A>T (p.Ile453=)
c.1614A>T (p.Ile538=)
c.1176A>T (p.Ile392=)
c.1476A>T (p.Ile492=)
n.1927A>T
9g.104831798T>CCA374325131ABCA1c.1539A>G (p.Ile513Met)
c.1359A>G (p.Ile453Met)
c.1614A>G (p.Ile538Met)
c.1176A>G (p.Ile392Met)
c.1476A>G (p.Ile492Met)
n.1927A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104831798T>GCA466513246ABCA1c.1539A>C (p.Ile513=)
c.1359A>C (p.Ile453=)
c.1614A>C (p.Ile538=)
c.1176A>C (p.Ile392=)
c.1476A>C (p.Ile492=)
n.1927A>C
9g.104831798T=CA1869925909ABCA1c.1539A= (p.Ile513=)
c.1359A= (p.Ile453=)
c.1614A= (p.Ile538=)
c.1176A= (p.Ile392=)
c.1476A= (p.Ile492=)
n.1927A=
9g.104831799A=CA1869925910ABCA1c.1538T= (p.Ile513=)
c.1358T= (p.Ile453=)
c.1613T= (p.Ile538=)
c.1175T= (p.Ile392=)
c.1475T= (p.Ile492=)
n.1926T=
9g.104831799A>CCA374325134ABCA1c.1538T>G (p.Ile513Arg)
c.1358T>G (p.Ile453Arg)
c.1613T>G (p.Ile538Arg)
c.1175T>G (p.Ile392Arg)
c.1475T>G (p.Ile492Arg)
n.1926T>G
9g.104831799A>GCA374325136ABCA1c.1538T>C (p.Ile513Thr)
c.1358T>C (p.Ile453Thr)
c.1613T>C (p.Ile538Thr)
c.1175T>C (p.Ile392Thr)
c.1475T>C (p.Ile492Thr)
n.1926T>C
9g.104831799A>TCA374325138ABCA1c.1538T>A (p.Ile513Lys)
c.1358T>A (p.Ile453Lys)
c.1613T>A (p.Ile538Lys)
c.1175T>A (p.Ile392Lys)
c.1475T>A (p.Ile492Lys)
n.1926T>A
 dbSNP gnomAD v2 gnomAD v4
9g.104831800T>ACA374325142ABCA1c.1537A>T (p.Ile513Leu)
c.1357A>T (p.Ile453Leu)
c.1612A>T (p.Ile538Leu)
c.1174A>T (p.Ile392Leu)
c.1474A>T (p.Ile492Leu)
n.1925A>T
9g.104831800T>CCA374325144ABCA1c.1537A>G (p.Ile513Val)
c.1357A>G (p.Ile453Val)
c.1612A>G (p.Ile538Val)
c.1174A>G (p.Ile392Val)
c.1474A>G (p.Ile492Val)
n.1925A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831800T>GCA374325141ABCA1c.1537A>C (p.Ile513Leu)
c.1357A>C (p.Ile453Leu)
c.1612A>C (p.Ile538Leu)
c.1174A>C (p.Ile392Leu)
c.1474A>C (p.Ile492Leu)
n.1925A>C
 ClinVar dbSNP gnomAD v4
9g.104831800T=CA1869925921ABCA1c.1537A= (p.Ile513=)
c.1357A= (p.Ile453=)
c.1612A= (p.Ile538=)
c.1174A= (p.Ile392=)
c.1474A= (p.Ile492=)
n.1925A=
9g.104831801G>ACA466513261ABCA1c.1536C>T (p.Pro512=)
c.1356C>T (p.Pro452=)
c.1611C>T (p.Pro537=)
c.1173C>T (p.Pro391=)
c.1473C>T (p.Pro491=)
n.1924C>T
9g.104831801G>CCA466513259ABCA1c.1536C>G (p.Pro512=)
c.1356C>G (p.Pro452=)
c.1611C>G (p.Pro537=)
c.1173C>G (p.Pro391=)
c.1473C>G (p.Pro491=)
n.1924C>G
9g.104831801G>TCA466513257ABCA1c.1536C>A (p.Pro512=)
c.1356C>A (p.Pro452=)
c.1611C>A (p.Pro537=)
c.1173C>A (p.Pro391=)
c.1473C>A (p.Pro491=)
n.1924C>A
9g.104831802G>ACA374325151ABCA1c.1535C>T (p.Pro512Leu)
c.1355C>T (p.Pro452Leu)
c.1610C>T (p.Pro537Leu)
c.1172C>T (p.Pro391Leu)
c.1472C>T (p.Pro491Leu)
n.1923C>T
9g.104831802G>CCA374325147ABCA1c.1535C>G (p.Pro512Arg)
c.1355C>G (p.Pro452Arg)
c.1610C>G (p.Pro537Arg)
c.1172C>G (p.Pro391Arg)
c.1472C>G (p.Pro491Arg)
n.1923C>G
9g.104831802G>TCA374325149ABCA1c.1535C>A (p.Pro512His)
c.1355C>A (p.Pro452His)
c.1610C>A (p.Pro537His)
c.1172C>A (p.Pro391His)
c.1472C>A (p.Pro491His)
n.1923C>A
9g.104831803G>ACA374325153ABCA1c.1534C>T (p.Pro512Ser)
c.1354C>T (p.Pro452Ser)
c.1609C>T (p.Pro537Ser)
c.1171C>T (p.Pro391Ser)
c.1471C>T (p.Pro491Ser)
n.1922C>T
9g.104831803G>CCA374325155ABCA1c.1534C>G (p.Pro512Ala)
c.1354C>G (p.Pro452Ala)
c.1609C>G (p.Pro537Ala)
c.1171C>G (p.Pro391Ala)
c.1471C>G (p.Pro491Ala)
n.1922C>G
9g.104831803G>TCA374325157ABCA1c.1534C>A (p.Pro512Thr)
c.1354C>A (p.Pro452Thr)
c.1609C>A (p.Pro537Thr)
c.1171C>A (p.Pro391Thr)
c.1471C>A (p.Pro491Thr)
n.1922C>A
9g.104831804T>ACA374325160ABCA1c.1533A>T (p.Glu511Asp)
c.1353A>T (p.Glu451Asp)
c.1608A>T (p.Glu536Asp)
c.1170A>T (p.Glu390Asp)
c.1470A>T (p.Glu490Asp)
n.1921A>T
9g.104831804T>CCA5168972ABCA1c.1533A>G (p.Glu511=)
c.1353A>G (p.Glu451=)
c.1608A>G (p.Glu536=)
c.1170A>G (p.Glu390=)
c.1470A>G (p.Glu490=)
n.1921A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831804T>GCA374325163ABCA1c.1533A>C (p.Glu511Asp)
c.1353A>C (p.Glu451Asp)
c.1608A>C (p.Glu536Asp)
c.1170A>C (p.Glu390Asp)
c.1470A>C (p.Glu490Asp)
n.1921A>C
9g.104831804T=CA1869925929ABCA1c.1533A= (p.Glu511=)
c.1353A= (p.Glu451=)
c.1608A= (p.Glu536=)
c.1170A= (p.Glu390=)
c.1470A= (p.Glu490=)
n.1921A=
9g.104831805T>ACA374325165ABCA1c.1532A>T (p.Glu511Val)
c.1352A>T (p.Glu451Val)
c.1607A>T (p.Glu536Val)
c.1169A>T (p.Glu390Val)
c.1469A>T (p.Glu490Val)
n.1920A>T
9g.104831805T>CCA374325168ABCA1c.1532A>G (p.Glu511Gly)
c.1352A>G (p.Glu451Gly)
c.1607A>G (p.Glu536Gly)
c.1169A>G (p.Glu390Gly)
c.1469A>G (p.Glu490Gly)
n.1920A>G
9g.104831805T>GCA374325166ABCA1c.1532A>C (p.Glu511Ala)
c.1352A>C (p.Glu451Ala)
c.1607A>C (p.Glu536Ala)
c.1169A>C (p.Glu390Ala)
c.1469A>C (p.Glu490Ala)
n.1920A>C
9g.104831806C>ACA374325170ABCA1c.1531G>T (p.Glu511Ter)
c.1351G>T (p.Glu451Ter)
c.1606G>T (p.Glu536Ter)
c.1168G>T (p.Glu390Ter)
c.1468G>T (p.Glu490Ter)
n.1919G>T
9g.104831806C>GCA374325172ABCA1c.1531G>C (p.Glu511Gln)
c.1351G>C (p.Glu451Gln)
c.1606G>C (p.Glu536Gln)
c.1168G>C (p.Glu390Gln)
c.1468G>C (p.Glu490Gln)
n.1919G>C
9g.104831806C>TCA374325174ABCA1c.1531G>A (p.Glu511Lys)
c.1351G>A (p.Glu451Lys)
c.1606G>A (p.Glu536Lys)
c.1168G>A (p.Glu390Lys)
c.1468G>A (p.Glu490Lys)
n.1919G>A
9g.104831807T>ACA466513293ABCA1c.1530A>T (p.Leu510=)
c.1350A>T (p.Leu450=)
c.1605A>T (p.Leu535=)
c.1167A>T (p.Leu389=)
c.1467A>T (p.Leu489=)
n.1918A>T
9g.104831807T>CCA5168973ABCA1c.1530A>G (p.Leu510=)
c.1350A>G (p.Leu450=)
c.1605A>G (p.Leu535=)
c.1167A>G (p.Leu389=)
c.1467A>G (p.Leu489=)
n.1918A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831807T>GCA466513296ABCA1c.1530A>C (p.Leu510=)
c.1350A>C (p.Leu450=)
c.1605A>C (p.Leu535=)
c.1167A>C (p.Leu389=)
c.1467A>C (p.Leu489=)
n.1918A>C
9g.104831807T=CA1869925939ABCA1c.1530A= (p.Leu510=)
c.1350A= (p.Leu450=)
c.1605A= (p.Leu535=)
c.1167A= (p.Leu389=)
c.1467A= (p.Leu489=)
n.1918A=
9g.104831808A>CCA374325182ABCA1c.1529T>G (p.Leu510Arg)
c.1349T>G (p.Leu450Arg)
c.1604T>G (p.Leu535Arg)
c.1166T>G (p.Leu389Arg)
c.1466T>G (p.Leu489Arg)
n.1917T>G
9g.104831808A>GCA374325178ABCA1c.1529T>C (p.Leu510Pro)
c.1349T>C (p.Leu450Pro)
c.1604T>C (p.Leu535Pro)
c.1166T>C (p.Leu389Pro)
c.1466T>C (p.Leu489Pro)
n.1917T>C
9g.104831808A>TCA374325180ABCA1c.1529T>A (p.Leu510Gln)
c.1349T>A (p.Leu450Gln)
c.1604T>A (p.Leu535Gln)
c.1166T>A (p.Leu389Gln)
c.1466T>A (p.Leu489Gln)
n.1917T>A
9g.104831809G>ACA466513309ABCA1c.1528C>T (p.Leu510=)
c.1348C>T (p.Leu450=)
c.1603C>T (p.Leu535=)
c.1165C>T (p.Leu389=)
c.1465C>T (p.Leu489=)
n.1916C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104831809G>CCA197397063ABCA1c.1528C>G (p.Leu510Val)
c.1348C>G (p.Leu450Val)
c.1603C>G (p.Leu535Val)
c.1165C>G (p.Leu389Val)
c.1465C>G (p.Leu489Val)
n.1916C>G
 dbSNP
9g.104831809G=CA1869925950ABCA1c.1528C= (p.Leu510=)
c.1348C= (p.Leu450=)
c.1603C= (p.Leu535=)
c.1165C= (p.Leu389=)
c.1465C= (p.Leu489=)
n.1916C=
9g.104831809G>TCA374325186ABCA1c.1528C>A (p.Leu510Ile)
c.1348C>A (p.Leu450Ile)
c.1603C>A (p.Leu535Ile)
c.1165C>A (p.Leu389Ile)
c.1465C>A (p.Leu489Ile)
n.1916C>A
9g.104831810C>ACA374325188ABCA1c.1527G>T (p.Lys509Asn)
c.1347G>T (p.Lys449Asn)
c.1602G>T (p.Lys534Asn)
c.1164G>T (p.Lys388Asn)
c.1464G>T (p.Lys488Asn)
n.1915G>T
9g.104831810C>GCA374325190ABCA1c.1527G>C (p.Lys509Asn)
c.1347G>C (p.Lys449Asn)
c.1602G>C (p.Lys534Asn)
c.1164G>C (p.Lys388Asn)
c.1464G>C (p.Lys488Asn)
n.1915G>C
9g.104831810C>TCA466513316ABCA1c.1527G>A (p.Lys509=)
c.1347G>A (p.Lys449=)
c.1602G>A (p.Lys534=)
c.1164G>A (p.Lys388=)
c.1464G>A (p.Lys488=)
n.1915G>A
9g.104831811T>ACA374325192ABCA1c.1526A>T (p.Lys509Met)
c.1346A>T (p.Lys449Met)
c.1601A>T (p.Lys534Met)
c.1163A>T (p.Lys388Met)
c.1463A>T (p.Lys488Met)
n.1914A>T
9g.104831811T>CCA374325194ABCA1c.1526A>G (p.Lys509Arg)
c.1346A>G (p.Lys449Arg)
c.1601A>G (p.Lys534Arg)
c.1163A>G (p.Lys388Arg)
c.1463A>G (p.Lys488Arg)
n.1914A>G
 gnomAD v4
9g.104831811T>GCA374325196ABCA1c.1526A>C (p.Lys509Thr)
c.1346A>C (p.Lys449Thr)
c.1601A>C (p.Lys534Thr)
c.1163A>C (p.Lys388Thr)
c.1463A>C (p.Lys488Thr)
n.1914A>C
9g.104831812T>ACA374325199ABCA1c.1525A>T (p.Lys509Ter)
c.1345A>T (p.Lys449Ter)
c.1600A>T (p.Lys534Ter)
c.1162A>T (p.Lys388Ter)
c.1462A>T (p.Lys488Ter)
n.1913A>T
9g.104831812T>CCA374325201ABCA1c.1525A>G (p.Lys509Glu)
c.1345A>G (p.Lys449Glu)
c.1600A>G (p.Lys534Glu)
c.1162A>G (p.Lys388Glu)
c.1462A>G (p.Lys488Glu)
n.1913A>G
9g.104831812T>GCA374325203ABCA1c.1525A>C (p.Lys509Gln)
c.1345A>C (p.Lys449Gln)
c.1600A>C (p.Lys534Gln)
c.1162A>C (p.Lys388Gln)
c.1462A>C (p.Lys488Gln)
n.1913A>C
9g.104831814_104831830dupCA2691053463ABCA1c.1510-1_1525dup
c.1330-1_1345dup
c.1585-1_1600dup
c.1147-1_1162dup
c.1447-1_1462dup
n.1898-1_1913dup
 gnomAD v4
9g.104831813G>ACA5168974ABCA1c.1524C>T (p.Asn508=)
c.1344C>T (p.Asn448=)
c.1599C>T (p.Asn533=)
c.1161C>T (p.Asn387=)
c.1461C>T (p.Asn487=)
n.1912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831813G>CCA374325207ABCA1c.1524C>G (p.Asn508Lys)
c.1344C>G (p.Asn448Lys)
c.1599C>G (p.Asn533Lys)
c.1161C>G (p.Asn387Lys)
c.1461C>G (p.Asn487Lys)
n.1912C>G
9g.104831813G=CA1869925961ABCA1c.1524C= (p.Asn508=)
c.1344C= (p.Asn448=)
c.1599C= (p.Asn533=)
c.1161C= (p.Asn387=)
c.1461C= (p.Asn487=)
n.1912C=
9g.104831813G>TCA374325209ABCA1c.1524C>A (p.Asn508Lys)
c.1344C>A (p.Asn448Lys)
c.1599C>A (p.Asn533Lys)
c.1161C>A (p.Asn387Lys)
c.1461C>A (p.Asn487Lys)
n.1912C>A
9g.104831814T>ACA374325211ABCA1c.1523A>T (p.Asn508Ile)
c.1343A>T (p.Asn448Ile)
c.1598A>T (p.Asn533Ile)
c.1160A>T (p.Asn387Ile)
c.1460A>T (p.Asn487Ile)
n.1911A>T
9g.104831814T>CCA5168976ABCA1c.1523A>G (p.Asn508Ser)
c.1343A>G (p.Asn448Ser)
c.1598A>G (p.Asn533Ser)
c.1160A>G (p.Asn387Ser)
c.1460A>G (p.Asn487Ser)
n.1911A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831814T>GCA5168975ABCA1c.1523A>C (p.Asn508Thr)
c.1343A>C (p.Asn448Thr)
c.1598A>C (p.Asn533Thr)
c.1160A>C (p.Asn387Thr)
c.1460A>C (p.Asn487Thr)
n.1911A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831814T=CA1869925965ABCA1c.1523A= (p.Asn508=)
c.1343A= (p.Asn448=)
c.1598A= (p.Asn533=)
c.1160A= (p.Asn387=)
c.1460A= (p.Asn487=)
n.1911A=
9g.104831815T>ACA374325215ABCA1c.1522A>T (p.Asn508Tyr)
c.1342A>T (p.Asn448Tyr)
c.1597A>T (p.Asn533Tyr)
c.1159A>T (p.Asn387Tyr)
c.1459A>T (p.Asn487Tyr)
n.1910A>T
9g.104831815T>CCA374325217ABCA1c.1522A>G (p.Asn508Asp)
c.1342A>G (p.Asn448Asp)
c.1597A>G (p.Asn533Asp)
c.1159A>G (p.Asn387Asp)
c.1459A>G (p.Asn487Asp)
n.1910A>G
9g.104831815T>GCA374325218ABCA1c.1522A>C (p.Asn508His)
c.1342A>C (p.Asn448His)
c.1597A>C (p.Asn533His)
c.1159A>C (p.Asn387His)
c.1459A>C (p.Asn487His)
n.1910A>C
9g.104831816C>ACA466513333ABCA1c.1521G>T (p.Leu507=)
c.1341G>T (p.Leu447=)
c.1596G>T (p.Leu532=)
c.1158G>T (p.Leu386=)
c.1458G>T (p.Leu486=)
n.1909G>T
9g.104831816C>GCA466513335ABCA1c.1521G>C (p.Leu507=)
c.1341G>C (p.Leu447=)
c.1596G>C (p.Leu532=)
c.1158G>C (p.Leu386=)
c.1458G>C (p.Leu486=)
n.1909G>C
9g.104831816C>TCA466513336ABCA1c.1521G>A (p.Leu507=)
c.1341G>A (p.Leu447=)
c.1596G>A (p.Leu532=)
c.1158G>A (p.Leu386=)
c.1458G>A (p.Leu486=)
n.1909G>A
9g.104831817A>CCA374325220ABCA1c.1520T>G (p.Leu507Arg)
c.1340T>G (p.Leu447Arg)
c.1595T>G (p.Leu532Arg)
c.1157T>G (p.Leu386Arg)
c.1457T>G (p.Leu486Arg)
n.1908T>G
9g.104831817A>GCA374325222ABCA1c.1520T>C (p.Leu507Pro)
c.1340T>C (p.Leu447Pro)
c.1595T>C (p.Leu532Pro)
c.1157T>C (p.Leu386Pro)
c.1457T>C (p.Leu486Pro)
n.1908T>C
9g.104831817A>TCA374325224ABCA1c.1520T>A (p.Leu507Gln)
c.1340T>A (p.Leu447Gln)
c.1595T>A (p.Leu532Gln)
c.1157T>A (p.Leu386Gln)
c.1457T>A (p.Leu486Gln)
n.1908T>A
9g.104831818G>ACA466513343ABCA1c.1519C>T (p.Leu507=)
c.1339C>T (p.Leu447=)
c.1594C>T (p.Leu532=)
c.1156C>T (p.Leu386=)
c.1456C>T (p.Leu486=)
n.1907C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104831818G>CCA5168977ABCA1c.1519C>G (p.Leu507Val)
c.1339C>G (p.Leu447Val)
c.1594C>G (p.Leu532Val)
c.1156C>G (p.Leu386Val)
c.1456C>G (p.Leu486Val)
n.1907C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831818G=CA1869925978ABCA1c.1519C= (p.Leu507=)
c.1339C= (p.Leu447=)
c.1594C= (p.Leu532=)
c.1156C= (p.Leu386=)
c.1456C= (p.Leu486=)
n.1907C=
9g.104831818G>TCA374325227ABCA1c.1519C>A (p.Leu507Met)
c.1339C>A (p.Leu447Met)
c.1594C>A (p.Leu532Met)
c.1156C>A (p.Leu386Met)
c.1456C>A (p.Leu486Met)
n.1907C>A
9g.104831819G>ACA5168978ABCA1c.1518C>T (p.Asn506=)
c.1338C>T (p.Asn446=)
c.1593C>T (p.Asn531=)
c.1155C>T (p.Asn385=)
c.1455C>T (p.Asn485=)
n.1906C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831819G>CCA374325232ABCA1c.1518C>G (p.Asn506Lys)
c.1338C>G (p.Asn446Lys)
c.1593C>G (p.Asn531Lys)
c.1155C>G (p.Asn385Lys)
c.1455C>G (p.Asn485Lys)
n.1906C>G
9g.104831819G=CA1869925983ABCA1c.1518C= (p.Asn506=)
c.1338C= (p.Asn446=)
c.1593C= (p.Asn531=)
c.1155C= (p.Asn385=)
c.1455C= (p.Asn485=)
n.1906C=
9g.104831819G>TCA374325234ABCA1c.1518C>A (p.Asn506Lys)
c.1338C>A (p.Asn446Lys)
c.1593C>A (p.Asn531Lys)
c.1155C>A (p.Asn385Lys)
c.1455C>A (p.Asn485Lys)
n.1906C>A
9g.104831820T>ACA374325237ABCA1c.1517A>T (p.Asn506Ile)
c.1337A>T (p.Asn446Ile)
c.1592A>T (p.Asn531Ile)
c.1154A>T (p.Asn385Ile)
c.1454A>T (p.Asn485Ile)
n.1905A>T
 COSMIC
9g.104831820T>CCA5168979ABCA1c.1517A>G (p.Asn506Ser)
c.1337A>G (p.Asn446Ser)
c.1592A>G (p.Asn531Ser)
c.1154A>G (p.Asn385Ser)
c.1454A>G (p.Asn485Ser)
n.1905A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831820T>GCA374325239ABCA1c.1517A>C (p.Asn506Thr)
c.1337A>C (p.Asn446Thr)
c.1592A>C (p.Asn531Thr)
c.1154A>C (p.Asn385Thr)
c.1454A>C (p.Asn485Thr)
n.1905A>C
9g.104831820T=CA1869925986ABCA1c.1517A= (p.Asn506=)
c.1337A= (p.Asn446=)
c.1592A= (p.Asn531=)
c.1154A= (p.Asn385=)
c.1454A= (p.Asn485=)
n.1905A=
9g.104831821T>ACA374325242ABCA1c.1516A>T (p.Asn506Tyr)
c.1336A>T (p.Asn446Tyr)
c.1591A>T (p.Asn531Tyr)
c.1153A>T (p.Asn385Tyr)
c.1453A>T (p.Asn485Tyr)
n.1904A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104831821T>CCA374325246ABCA1c.1516A>G (p.Asn506Asp)
c.1336A>G (p.Asn446Asp)
c.1591A>G (p.Asn531Asp)
c.1153A>G (p.Asn385Asp)
c.1453A>G (p.Asn485Asp)
n.1904A>G
9g.104831821T>GCA374325244ABCA1c.1516A>C (p.Asn506His)
c.1336A>C (p.Asn446His)
c.1591A>C (p.Asn531His)
c.1153A>C (p.Asn385His)
c.1453A>C (p.Asn485His)
n.1904A>C
9g.104831821T=CA1869925988ABCA1c.1516A= (p.Asn506=)
c.1336A= (p.Asn446=)
c.1591A= (p.Asn531=)
c.1153A= (p.Asn385=)
c.1453A= (p.Asn485=)
n.1904A=
9g.104831822G>ACA466513376ABCA1c.1515C>T (p.Val505=)
c.1335C>T (p.Val445=)
c.1590C>T (p.Val530=)
c.1152C>T (p.Val384=)
c.1452C>T (p.Val484=)
n.1903C>T
9g.104831822G>CCA197397072ABCA1c.1515C>G (p.Val505=)
c.1335C>G (p.Val445=)
c.1590C>G (p.Val530=)
c.1152C>G (p.Val384=)
c.1452C>G (p.Val484=)
n.1903C>G
 dbSNP
9g.104831822G=CA1869925993ABCA1c.1515C= (p.Val505=)
c.1335C= (p.Val445=)
c.1590C= (p.Val530=)
c.1152C= (p.Val384=)
c.1452C= (p.Val484=)
n.1903C=
9g.104831822G>TCA466513374ABCA1c.1515C>A (p.Val505=)
c.1335C>A (p.Val445=)
c.1590C>A (p.Val530=)
c.1152C>A (p.Val384=)
c.1452C>A (p.Val484=)
n.1903C>A
9g.104831823A>CCA374325249ABCA1c.1514T>G (p.Val505Gly)
c.1334T>G (p.Val445Gly)
c.1589T>G (p.Val530Gly)
c.1151T>G (p.Val384Gly)
c.1451T>G (p.Val484Gly)
n.1902T>G
9g.104831823A>GCA374325251ABCA1c.1514T>C (p.Val505Ala)
c.1334T>C (p.Val445Ala)
c.1589T>C (p.Val530Ala)
c.1151T>C (p.Val384Ala)
c.1451T>C (p.Val484Ala)
n.1902T>C
 gnomAD v4
9g.104831823A>TCA374325253ABCA1c.1514T>A (p.Val505Asp)
c.1334T>A (p.Val445Asp)
c.1589T>A (p.Val530Asp)
c.1151T>A (p.Val384Asp)
c.1451T>A (p.Val484Asp)
n.1902T>A
9g.104831823_104831824delinsACCA1869925996ABCA1c.1513_1514delinsGT (p.Val505=)
c.1333_1334delinsGT (p.Val445=)
c.1588_1589delinsGT (p.Val530=)
c.1150_1151delinsGT (p.Val384=)
c.1450_1451delinsGT (p.Val484=)
n.1901_1902delinsGT
9g.104831827_104831828dupCA2785407728ABCA1c.1513_1514dup
c.1333_1334dup
c.1588_1589dup
c.1150_1151dup
c.1450_1451dup
n.1901_1902dup
9g.104831824delCA1127665109ABCA1c.1513del (p.Val505SerfsTer3)
c.1333del (p.Val445SerfsTer3)
c.1588del (p.Val530SerfsTer3)
c.1150del (p.Val384SerfsTer3)
c.1450del (p.Val484SerfsTer3)
n.1901del
 dbSNP gnomAD v3 gnomAD v4
9g.104831824C>ACA374325256ABCA1c.1513G>T (p.Val505Phe)
c.1333G>T (p.Val445Phe)
c.1588G>T (p.Val530Phe)
c.1150G>T (p.Val384Phe)
c.1450G>T (p.Val484Phe)
n.1901G>T
9g.104831824C>GCA374325258ABCA1c.1513G>C (p.Val505Leu)
c.1333G>C (p.Val445Leu)
c.1588G>C (p.Val530Leu)
c.1150G>C (p.Val384Leu)
c.1450G>C (p.Val484Leu)
n.1901G>C
9g.104831824C>TCA374325260ABCA1c.1513G>A (p.Val505Ile)
c.1333G>A (p.Val445Ile)
c.1588G>A (p.Val530Ile)
c.1150G>A (p.Val384Ile)
c.1450G>A (p.Val484Ile)
n.1901G>A
 gnomAD v4
9g.104831825A>CCA374325262ABCA1c.1512T>G (p.Cys504Trp)
c.1332T>G (p.Cys444Trp)
c.1587T>G (p.Cys529Trp)
c.1149T>G (p.Cys383Trp)
c.1449T>G (p.Cys483Trp)
n.1900T>G
9g.104831825A>GCA466513397ABCA1c.1512T>C (p.Cys504=)
c.1332T>C (p.Cys444=)
c.1587T>C (p.Cys529=)
c.1149T>C (p.Cys383=)
c.1449T>C (p.Cys483=)
n.1900T>C
9g.104831825A>TCA374325264ABCA1c.1512T>A (p.Cys504Ter)
c.1332T>A (p.Cys444Ter)
c.1587T>A (p.Cys529Ter)
c.1149T>A (p.Cys383Ter)
c.1449T>A (p.Cys483Ter)
n.1900T>A
9g.104831826C>ACA374325267ABCA1c.1511G>T (p.Cys504Phe)
c.1331G>T (p.Cys444Phe)
c.1586G>T (p.Cys529Phe)
c.1148G>T (p.Cys383Phe)
c.1448G>T (p.Cys483Phe)
n.1899G>T
9g.104831826C>GCA374325269ABCA1c.1511G>C (p.Cys504Ser)
c.1331G>C (p.Cys444Ser)
c.1586G>C (p.Cys529Ser)
c.1148G>C (p.Cys383Ser)
c.1448G>C (p.Cys483Ser)
n.1899G>C
9g.104831826C>TCA374325271ABCA1c.1511G>A (p.Cys504Tyr)
c.1331G>A (p.Cys444Tyr)
c.1586G>A (p.Cys529Tyr)
c.1148G>A (p.Cys383Tyr)
c.1448G>A (p.Cys483Tyr)
n.1899G>A
 gnomAD v4
9g.104831827A>CCA374325273ABCA1c.1510T>G (p.Cys504Gly)
c.1330T>G (p.Cys444Gly)
c.1585T>G (p.Cys529Gly)
c.1147T>G (p.Cys383Gly)
c.1447T>G (p.Cys483Gly)
n.1898T>G
9g.104831827A>GCA374325277ABCA1c.1510T>C (p.Cys504Arg)
c.1330T>C (p.Cys444Arg)
c.1585T>C (p.Cys529Arg)
c.1147T>C (p.Cys383Arg)
c.1447T>C (p.Cys483Arg)
n.1898T>C
9g.104831827A>TCA374325275ABCA1c.1510T>A (p.Cys504Ser)
c.1330T>A (p.Cys444Ser)
c.1585T>A (p.Cys529Ser)
c.1147T>A (p.Cys383Ser)
c.1447T>A (p.Cys483Ser)
n.1898T>A
9g.104831828C>ACA374325280ABCA1c.1510-1G>T (n.1510-1G>T)
c.1330-1G>T (n.1330-1G>T)
c.1585-1G>T (n.1585-1G>T)
c.1147-1G>T (n.1147-1G>T)
c.1447-1G>T (n.1447-1G>T)
n.1898-1G>T
 gnomAD v4
9g.104831828C>GCA374325283ABCA1c.1510-1G>C (n.1510-1G>C)
c.1330-1G>C (n.1330-1G>C)
c.1585-1G>C (n.1585-1G>C)
c.1147-1G>C (n.1147-1G>C)
c.1447-1G>C (n.1447-1G>C)
n.1898-1G>C
9g.104831828C>TCA374325281ABCA1c.1510-1G>A (n.1510-1G>A)
c.1330-1G>A (n.1330-1G>A)
c.1585-1G>A (n.1585-1G>A)
c.1147-1G>A (n.1147-1G>A)
c.1447-1G>A (n.1447-1G>A)
n.1898-1G>A
9g.104831829T>ACA374325286ABCA1c.1510-2A>T (n.1510-2A>T)
c.1330-2A>T (n.1330-2A>T)
c.1585-2A>T (n.1585-2A>T)
c.1147-2A>T (n.1147-2A>T)
c.1447-2A>T (n.1447-2A>T)
n.1898-2A>T
9g.104831829T>CCA374325288ABCA1c.1510-2A>G (n.1510-2A>G)
c.1330-2A>G (n.1330-2A>G)
c.1585-2A>G (n.1585-2A>G)
c.1147-2A>G (n.1147-2A>G)
c.1447-2A>G (n.1447-2A>G)
n.1898-2A>G
9g.104831829T>GCA197397078ABCA1c.1510-2A>C (n.1510-2A>C)
c.1330-2A>C (n.1330-2A>C)
c.1585-2A>C (n.1585-2A>C)
c.1147-2A>C (n.1147-2A>C)
c.1447-2A>C (n.1447-2A>C)
n.1898-2A>C
 ClinVar dbSNP
9g.104831829T=CA1869926000ABCA1c.1510-2A= (n.1510-2A=)
c.1330-2A= (n.1330-2A=)
c.1585-2A= (n.1585-2A=)
c.1147-2A= (n.1147-2A=)
c.1447-2A= (n.1447-2A=)
n.1898-2A=
9g.104831830G>ACA2691053464ABCA1c.1510-3C>T (n.1510-3C>T)
c.1330-3C>T (n.1330-3C>T)
c.1585-3C>T (n.1585-3C>T)
c.1147-3C>T (n.1147-3C>T)
c.1447-3C>T (n.1447-3C>T)
n.1898-3C>T
 gnomAD v4
9g.104831832T>CCA2579406991ABCA1c.1510-5A>G (n.1510-5A>G)
c.1330-5A>G (n.1330-5A>G)
c.1585-5A>G (n.1585-5A>G)
c.1147-5A>G (n.1147-5A>G)
c.1447-5A>G (n.1447-5A>G)
n.1898-5A>G
 gnomAD v4
9g.104831832_104831835delinsTAGACA1869926003ABCA1c.1510-8_1510-5delinsTCTA (n.1510-8_1510-5delinsTCTA)
c.1330-8_1330-5delinsTCTA (n.1330-8_1330-5delinsTCTA)
c.1585-8_1585-5delinsTCTA (n.1585-8_1585-5delinsTCTA)
c.1147-8_1147-5delinsTCTA (n.1147-8_1147-5delinsTCTA)
c.1447-8_1447-5delinsTCTA (n.1447-8_1447-5delinsTCTA)
n.1898-8_1898-5delinsTCTA
9g.104831833A=CA1869926008ABCA1c.1510-6T= (n.1510-6T=)
c.1330-6T= (n.1330-6T=)
c.1585-6T= (n.1585-6T=)
c.1147-6T= (n.1147-6T=)
c.1447-6T= (n.1447-6T=)
n.1898-6T=
9g.104831833A>GCA858051265ABCA1c.1510-6T>C (n.1510-6T>C)
c.1330-6T>C (n.1330-6T>C)
c.1585-6T>C (n.1585-6T>C)
c.1147-6T>C (n.1147-6T>C)
c.1447-6T>C (n.1447-6T>C)
n.1898-6T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104831837_104831839delCA5168980ABCA1c.1510-8_1510-6del (n.1510-8_1510-6del)
c.1330-8_1330-6del (n.1330-8_1330-6del)
c.1585-8_1585-6del (n.1585-8_1585-6del)
c.1147-8_1147-6del (n.1147-8_1147-6del)
c.1447-8_1447-6del (n.1447-8_1447-6del)
n.1898-8_1898-6del
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104831834G>ACA5168981ABCA1c.1510-7C>T (n.1510-7C>T)
c.1330-7C>T (n.1330-7C>T)
c.1585-7C>T (n.1585-7C>T)
c.1147-7C>T (n.1147-7C>T)
c.1447-7C>T (n.1447-7C>T)
n.1898-7C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831834G=CA1869926039ABCA1c.1510-7C= (n.1510-7C=)
c.1330-7C= (n.1330-7C=)
c.1585-7C= (n.1585-7C=)
c.1147-7C= (n.1147-7C=)
c.1447-7C= (n.1447-7C=)
n.1898-7C=
9g.104831834G>TCA197397107ABCA1c.1510-7C>A (n.1510-7C>A)
c.1330-7C>A (n.1330-7C>A)
c.1585-7C>A (n.1585-7C>A)
c.1147-7C>A (n.1147-7C>A)
c.1447-7C>A (n.1447-7C>A)
n.1898-7C>A
 dbSNP
9g.104831836A=CA1869926044ABCA1c.1510-9T= (n.1510-9T=)
c.1330-9T= (n.1330-9T=)
c.1585-9T= (n.1585-9T=)
c.1147-9T= (n.1147-9T=)
c.1447-9T= (n.1447-9T=)
n.1898-9T=
9g.104831836A>GCA858051271ABCA1c.1510-9T>C (n.1510-9T>C)
c.1330-9T>C (n.1330-9T>C)
c.1585-9T>C (n.1585-9T>C)
c.1147-9T>C (n.1147-9T>C)
c.1447-9T>C (n.1447-9T>C)
n.1898-9T>C
 dbSNP gnomAD v3 gnomAD v4
9g.104831837G>CCA2720366234ABCA1c.1510-10C>G (n.1510-10C>G)
c.1330-10C>G (n.1330-10C>G)
c.1585-10C>G (n.1585-10C>G)
c.1147-10C>G (n.1147-10C>G)
c.1447-10C>G (n.1447-10C>G)
n.1898-10C>G
 dbSNP
9g.104831840C=CA1869926046ABCA1c.1510-13G= (n.1510-13G=)
c.1330-13G= (n.1330-13G=)
c.1585-13G= (n.1585-13G=)
c.1147-13G= (n.1147-13G=)
c.1447-13G= (n.1447-13G=)
n.1898-13G=
9g.104831840C>TCA5168982ABCA1c.1510-13G>A (n.1510-13G>A)
c.1330-13G>A (n.1330-13G>A)
c.1585-13G>A (n.1585-13G>A)
c.1147-13G>A (n.1147-13G>A)
c.1447-13G>A (n.1447-13G>A)
n.1898-13G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104831841A>GCA2691053465ABCA1c.1510-14T>C (n.1510-14T>C)
c.1330-14T>C (n.1330-14T>C)
c.1585-14T>C (n.1585-14T>C)
c.1147-14T>C (n.1147-14T>C)
c.1447-14T>C (n.1447-14T>C)
n.1898-14T>C
 gnomAD v4
9g.104831842G>ACA2691053466ABCA1c.1510-15C>T (n.1510-15C>T)
c.1330-15C>T (n.1330-15C>T)
c.1585-15C>T (n.1585-15C>T)
c.1147-15C>T (n.1147-15C>T)
c.1447-15C>T (n.1447-15C>T)
n.1898-15C>T
 gnomAD v4
9g.104831843C>GCA2579406992ABCA1c.1510-16G>C (n.1510-16G>C)
c.1330-16G>C (n.1330-16G>C)
c.1585-16G>C (n.1585-16G>C)
c.1147-16G>C (n.1147-16G>C)
c.1447-16G>C (n.1447-16G>C)
n.1898-16G>C
9g.104831845T>GCA1127665116ABCA1c.1510-18A>C (n.1510-18A>C)
c.1330-18A>C (n.1330-18A>C)
c.1585-18A>C (n.1585-18A>C)
c.1147-18A>C (n.1147-18A>C)
c.1447-18A>C (n.1447-18A>C)
n.1898-18A>C
 dbSNP gnomAD v3 gnomAD v4
9g.104831845T=CA1869926049ABCA1c.1510-18A= (n.1510-18A=)
c.1330-18A= (n.1330-18A=)
c.1585-18A= (n.1585-18A=)
c.1147-18A= (n.1147-18A=)
c.1447-18A= (n.1447-18A=)
n.1898-18A=

Number of alleles fetched