Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104831739_104831753delinsCAGAACTTCCTCTCA | CA1869925777 | ABCA1 | c.1584_1598delinsTGAGAGGAAGTTCTG (p.Asp528=) c.1404_1418delinsTGAGAGGAAGTTCTG (p.Asp468=) c.1659_1673delinsTGAGAGGAAGTTCTG (p.Asp553=) c.1221_1235delinsTGAGAGGAAGTTCTG (p.Asp407=) c.1521_1535delinsTGAGAGGAAGTTCTG (p.Asp507=) n.1972_1986delinsTGAGAGGAAGTTCTG | |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATT | CA197397044 | ABCA1 | c.1584_1597delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp528GlufsTer23) c.1404_1417delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp468GlufsTer23) c.1659_1672delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp553GlufsTer23) c.1221_1234delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp407GlufsTer23) c.1521_1534delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp507GlufsTer23) n.1972_1985delinsAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC | dbSNP |
9 | g.104831740_104831753delinsGTACAGTGGCGTGACCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCTCCTGCCACCACGCCCG | CA212917 | ABCA1 | c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp529GlyfsTer15) c.1404_1417delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp469GlyfsTer15) c.1659_1672delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp554GlyfsTer15) c.1221_1234delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp408GlyfsTer15) c.1521_1534delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Asp508GlyfsTer15) n.1972_1985delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC | ClinVar dbSNP |
9 | g.104831747C>A | CA374324871 | ABCA1 | c.1590G>T (p.Arg530Ser) c.1410G>T (p.Arg470Ser) c.1665G>T (p.Arg555Ser) c.1227G>T (p.Arg409Ser) c.1527G>T (p.Arg509Ser) n.1978G>T | ClinVar |
9 | g.104831747C>G | CA374324873 | ABCA1 | c.1590G>C (p.Arg530Ser) c.1410G>C (p.Arg470Ser) c.1665G>C (p.Arg555Ser) c.1227G>C (p.Arg409Ser) c.1527G>C (p.Arg509Ser) n.1978G>C | gnomAD v4 |
9 | g.104831747C>T | CA466512947 | ABCA1 | c.1590G>A (p.Arg530=) c.1410G>A (p.Arg470=) c.1665G>A (p.Arg555=) c.1227G>A (p.Arg409=) c.1527G>A (p.Arg509=) n.1978G>A | |
9 | g.104831748C>A | CA374324876 | ABCA1 | c.1589G>T (p.Arg530Met) c.1409G>T (p.Arg470Met) c.1664G>T (p.Arg555Met) c.1226G>T (p.Arg409Met) c.1526G>T (p.Arg509Met) n.1977G>T | |
9 | g.104831748C>G | CA374324880 | ABCA1 | c.1589G>C (p.Arg530Thr) c.1409G>C (p.Arg470Thr) c.1664G>C (p.Arg555Thr) c.1226G>C (p.Arg409Thr) c.1526G>C (p.Arg509Thr) n.1977G>C | |
9 | g.104831748C>T | CA374324878 | ABCA1 | c.1589G>A (p.Arg530Lys) c.1409G>A (p.Arg470Lys) c.1664G>A (p.Arg555Lys) c.1226G>A (p.Arg409Lys) c.1526G>A (p.Arg509Lys) n.1977G>A | gnomAD v4 |
9 | g.104831749T>A | CA374324883 | ABCA1 | c.1588A>T (p.Arg530Trp) c.1408A>T (p.Arg470Trp) c.1663A>T (p.Arg555Trp) c.1225A>T (p.Arg409Trp) c.1525A>T (p.Arg509Trp) n.1976A>T | |
9 | g.104831749T>C | CA374324884 | ABCA1 | c.1588A>G (p.Arg530Gly) c.1408A>G (p.Arg470Gly) c.1663A>G (p.Arg555Gly) c.1225A>G (p.Arg409Gly) c.1525A>G (p.Arg509Gly) n.1976A>G | |
9 | g.104831749T>G | CA466512959 | ABCA1 | c.1588A>C (p.Arg530=) c.1408A>C (p.Arg470=) c.1663A>C (p.Arg555=) c.1225A>C (p.Arg409=) c.1525A>C (p.Arg509=) n.1976A>C | |
9 | g.104831750C>A | CA374324886 | ABCA1 | c.1587G>T (p.Glu529Asp) c.1407G>T (p.Glu469Asp) c.1662G>T (p.Glu554Asp) c.1224G>T (p.Glu408Asp) c.1524G>T (p.Glu508Asp) n.1975G>T | |
9 | g.104831750C>G | CA374324888 | ABCA1 | c.1587G>C (p.Glu529Asp) c.1407G>C (p.Glu469Asp) c.1662G>C (p.Glu554Asp) c.1224G>C (p.Glu408Asp) c.1524G>C (p.Glu508Asp) n.1975G>C | |
9 | g.104831750C>T | CA466512966 | ABCA1 | c.1587G>A (p.Glu529=) c.1407G>A (p.Glu469=) c.1662G>A (p.Glu554=) c.1224G>A (p.Glu408=) c.1524G>A (p.Glu508=) n.1975G>A | ClinVar gnomAD v4 |
9 | g.104831751T>A | CA374324890 | ABCA1 | c.1586A>T (p.Glu529Val) c.1406A>T (p.Glu469Val) c.1661A>T (p.Glu554Val) c.1223A>T (p.Glu408Val) c.1523A>T (p.Glu508Val) n.1974A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831751T>C | CA374324892 | ABCA1 | c.1586A>G (p.Glu529Gly) c.1406A>G (p.Glu469Gly) c.1661A>G (p.Glu554Gly) c.1223A>G (p.Glu408Gly) c.1523A>G (p.Glu508Gly) n.1974A>G | |
9 | g.104831751T>G | CA374324894 | ABCA1 | c.1586A>C (p.Glu529Ala) c.1406A>C (p.Glu469Ala) c.1661A>C (p.Glu554Ala) c.1223A>C (p.Glu408Ala) c.1523A>C (p.Glu508Ala) n.1974A>C | gnomAD v4 |
9 | g.104831751T= | CA1869925794 | ABCA1 | c.1586A= (p.Glu529=) c.1406A= (p.Glu469=) c.1661A= (p.Glu554=) c.1223A= (p.Glu408=) c.1523A= (p.Glu508=) n.1974A= | |
9 | g.104831752C>A | CA374324897 | ABCA1 | c.1585G>T (p.Glu529Ter) c.1405G>T (p.Glu469Ter) c.1660G>T (p.Glu554Ter) c.1222G>T (p.Glu408Ter) c.1522G>T (p.Glu508Ter) n.1973G>T | |
9 | g.104831752C= | CA1869925797 | ABCA1 | c.1585G= (p.Glu529=) c.1405G= (p.Glu469=) c.1660G= (p.Glu554=) c.1222G= (p.Glu408=) c.1522G= (p.Glu508=) n.1973G= | |
9 | g.104831752C>G | CA374324899 | ABCA1 | c.1585G>C (p.Glu529Gln) c.1405G>C (p.Glu469Gln) c.1660G>C (p.Glu554Gln) c.1222G>C (p.Glu408Gln) c.1522G>C (p.Glu508Gln) n.1973G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831752C>T | CA374324901 | ABCA1 | c.1585G>A (p.Glu529Lys) c.1405G>A (p.Glu469Lys) c.1660G>A (p.Glu554Lys) c.1222G>A (p.Glu408Lys) c.1522G>A (p.Glu508Lys) n.1973G>A | ClinVar gnomAD v4 |
9 | g.104831753A= | CA1869925800 | ABCA1 | c.1584T= (p.Asp528=) c.1404T= (p.Asp468=) c.1659T= (p.Asp553=) c.1221T= (p.Asp407=) c.1521T= (p.Asp507=) n.1972T= | |
9 | g.104831753A>C | CA374324903 | ABCA1 | c.1584T>G (p.Asp528Glu) c.1404T>G (p.Asp468Glu) c.1659T>G (p.Asp553Glu) c.1221T>G (p.Asp407Glu) c.1521T>G (p.Asp507Glu) n.1972T>G | gnomAD v4 |
9 | g.104831753A>G | CA466512980 | ABCA1 | c.1584T>C (p.Asp528=) c.1404T>C (p.Asp468=) c.1659T>C (p.Asp553=) c.1221T>C (p.Asp407=) c.1521T>C (p.Asp507=) n.1972T>C | gnomAD v4 |
9 | g.104831753A>T | CA374324905 | ABCA1 | c.1584T>A (p.Asp528Glu) c.1404T>A (p.Asp468Glu) c.1659T>A (p.Asp553Glu) c.1221T>A (p.Asp407Glu) c.1521T>A (p.Asp507Glu) n.1972T>A | dbSNP gnomAD v4 |
9 | g.104831754T>A | CA374324909 | ABCA1 | c.1583A>T (p.Asp528Val) c.1403A>T (p.Asp468Val) c.1658A>T (p.Asp553Val) c.1220A>T (p.Asp407Val) c.1520A>T (p.Asp507Val) n.1971A>T | gnomAD v4 |
9 | g.104831754T>C | CA374324911 | ABCA1 | c.1583A>G (p.Asp528Gly) c.1403A>G (p.Asp468Gly) c.1658A>G (p.Asp553Gly) c.1220A>G (p.Asp407Gly) c.1520A>G (p.Asp507Gly) n.1971A>G | |
9 | g.104831754T>G | CA374324913 | ABCA1 | c.1583A>C (p.Asp528Ala) c.1403A>C (p.Asp468Ala) c.1658A>C (p.Asp553Ala) c.1220A>C (p.Asp407Ala) c.1520A>C (p.Asp507Ala) n.1971A>C | |
9 | g.104831755C>A | CA374324916 | ABCA1 | c.1582G>T (p.Asp528Tyr) c.1402G>T (p.Asp468Tyr) c.1657G>T (p.Asp553Tyr) c.1219G>T (p.Asp407Tyr) c.1519G>T (p.Asp507Tyr) n.1970G>T | |
9 | g.104831755C>G | CA374324919 | ABCA1 | c.1582G>C (p.Asp528His) c.1402G>C (p.Asp468His) c.1657G>C (p.Asp553His) c.1219G>C (p.Asp407His) c.1519G>C (p.Asp507His) n.1970G>C | |
9 | g.104831755C>T | CA374324917 | ABCA1 | c.1582G>A (p.Asp528Asn) c.1402G>A (p.Asp468Asn) c.1657G>A (p.Asp553Asn) c.1219G>A (p.Asp407Asn) c.1519G>A (p.Asp507Asn) n.1970G>A | |
9 | g.104831756C>A | CA466512998 | ABCA1 | c.1581G>T (p.Leu527=) c.1401G>T (p.Leu467=) c.1656G>T (p.Leu552=) c.1218G>T (p.Leu406=) c.1518G>T (p.Leu506=) n.1969G>T | |
9 | g.104831756C= | CA1869925806 | ABCA1 | c.1581G= (p.Leu527=) c.1401G= (p.Leu467=) c.1656G= (p.Leu552=) c.1218G= (p.Leu406=) c.1518G= (p.Leu506=) n.1969G= | |
9 | g.104831756C>G | CA466513000 | ABCA1 | c.1581G>C (p.Leu527=) c.1401G>C (p.Leu467=) c.1656G>C (p.Leu552=) c.1218G>C (p.Leu406=) c.1518G>C (p.Leu506=) n.1969G>C | |
9 | g.104831756C>T | CA466513002 | ABCA1 | c.1581G>A (p.Leu527=) c.1401G>A (p.Leu467=) c.1656G>A (p.Leu552=) c.1218G>A (p.Leu406=) c.1518G>A (p.Leu506=) n.1969G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831757A>C | CA374324922 | ABCA1 | c.1580T>G (p.Leu527Arg) c.1400T>G (p.Leu467Arg) c.1655T>G (p.Leu552Arg) c.1217T>G (p.Leu406Arg) c.1517T>G (p.Leu506Arg) n.1968T>G | |
9 | g.104831757A>G | CA374324923 | ABCA1 | c.1580T>C (p.Leu527Pro) c.1400T>C (p.Leu467Pro) c.1655T>C (p.Leu552Pro) c.1217T>C (p.Leu406Pro) c.1517T>C (p.Leu506Pro) n.1968T>C | |
9 | g.104831757A>T | CA374324926 | ABCA1 | c.1580T>A (p.Leu527Gln) c.1400T>A (p.Leu467Gln) c.1655T>A (p.Leu552Gln) c.1217T>A (p.Leu406Gln) c.1517T>A (p.Leu506Gln) n.1968T>A | |
9 | g.104831758G>A | CA466513009 | ABCA1 | c.1579C>T (p.Leu527=) c.1399C>T (p.Leu467=) c.1654C>T (p.Leu552=) c.1216C>T (p.Leu406=) c.1516C>T (p.Leu506=) n.1967C>T | |
9 | g.104831758G>C | CA374324928 | ABCA1 | c.1579C>G (p.Leu527Val) c.1399C>G (p.Leu467Val) c.1654C>G (p.Leu552Val) c.1216C>G (p.Leu406Val) c.1516C>G (p.Leu506Val) n.1967C>G | |
9 | g.104831758G>T | CA374324930 | ABCA1 | c.1579C>A (p.Leu527Met) c.1399C>A (p.Leu467Met) c.1654C>A (p.Leu552Met) c.1216C>A (p.Leu406Met) c.1516C>A (p.Leu506Met) n.1967C>A | |
9 | g.104831759C>A | CA466513015 | ABCA1 | c.1578G>T (p.Leu526=) c.1398G>T (p.Leu466=) c.1653G>T (p.Leu551=) c.1215G>T (p.Leu405=) c.1515G>T (p.Leu505=) n.1966G>T | |
9 | g.104831759C= | CA1869925811 | ABCA1 | c.1578G= (p.Leu526=) c.1398G= (p.Leu466=) c.1653G= (p.Leu551=) c.1215G= (p.Leu405=) c.1515G= (p.Leu505=) n.1966G= | |
9 | g.104831759C>G | CA466513017 | ABCA1 | c.1578G>C (p.Leu526=) c.1398G>C (p.Leu466=) c.1653G>C (p.Leu551=) c.1215G>C (p.Leu405=) c.1515G>C (p.Leu505=) n.1966G>C | dbSNP |
9 | g.104831759C>T | CA466513013 | ABCA1 | c.1578G>A (p.Leu526=) c.1398G>A (p.Leu466=) c.1653G>A (p.Leu551=) c.1215G>A (p.Leu405=) c.1515G>A (p.Leu505=) n.1966G>A | |
9 | g.104831760A= | CA1869925817 | ABCA1 | c.1577T= (p.Leu526=) c.1397T= (p.Leu466=) c.1652T= (p.Leu551=) c.1214T= (p.Leu405=) c.1514T= (p.Leu505=) n.1965T= | |
9 | g.104831760A>C | CA374324931 | ABCA1 | c.1577T>G (p.Leu526Arg) c.1397T>G (p.Leu466Arg) c.1652T>G (p.Leu551Arg) c.1214T>G (p.Leu405Arg) c.1514T>G (p.Leu505Arg) n.1965T>G | |
9 | g.104831760A>G | CA374324933 | ABCA1 | c.1577T>C (p.Leu526Pro) c.1397T>C (p.Leu466Pro) c.1652T>C (p.Leu551Pro) c.1214T>C (p.Leu405Pro) c.1514T>C (p.Leu505Pro) n.1965T>C | dbSNP gnomAD v4 |
9 | g.104831760A>T | CA374324935 | ABCA1 | c.1577T>A (p.Leu526Gln) c.1397T>A (p.Leu466Gln) c.1652T>A (p.Leu551Gln) c.1214T>A (p.Leu405Gln) c.1514T>A (p.Leu505Gln) n.1965T>A | |
9 | g.104831761G>A | CA466513026 | ABCA1 | c.1576C>T (p.Leu526=) c.1396C>T (p.Leu466=) c.1651C>T (p.Leu551=) c.1213C>T (p.Leu405=) c.1513C>T (p.Leu505=) n.1964C>T | |
9 | g.104831761G>C | CA374324937 | ABCA1 | c.1576C>G (p.Leu526Val) c.1396C>G (p.Leu466Val) c.1651C>G (p.Leu551Val) c.1213C>G (p.Leu405Val) c.1513C>G (p.Leu505Val) n.1964C>G | |
9 | g.104831761G>T | CA374324940 | ABCA1 | c.1576C>A (p.Leu526Met) c.1396C>A (p.Leu466Met) c.1651C>A (p.Leu551Met) c.1213C>A (p.Leu405Met) c.1513C>A (p.Leu505Met) n.1964C>A | |
9 | g.104831762C>A | CA374324945 | ABCA1 | c.1575G>T (p.Glu525Asp) c.1395G>T (p.Glu465Asp) c.1650G>T (p.Glu550Asp) c.1212G>T (p.Glu404Asp) c.1512G>T (p.Glu504Asp) n.1963G>T | |
9 | g.104831762C= | CA1869925831 | ABCA1 | c.1575G= (p.Glu525=) c.1395G= (p.Glu465=) c.1650G= (p.Glu550=) c.1212G= (p.Glu404=) c.1512G= (p.Glu504=) n.1963G= | |
9 | g.104831762C>G | CA374324942 | ABCA1 | c.1575G>C (p.Glu525Asp) c.1395G>C (p.Glu465Asp) c.1650G>C (p.Glu550Asp) c.1212G>C (p.Glu404Asp) c.1512G>C (p.Glu504Asp) n.1963G>C | |
9 | g.104831762C>T | CA466513032 | ABCA1 | c.1575G>A (p.Glu525=) c.1395G>A (p.Glu465=) c.1650G>A (p.Glu550=) c.1212G>A (p.Glu404=) c.1512G>A (p.Glu504=) n.1963G>A | dbSNP gnomAD v4 |
9 | g.104831763T>A | CA374324947 | ABCA1 | c.1574A>T (p.Glu525Val) c.1394A>T (p.Glu465Val) c.1649A>T (p.Glu550Val) c.1211A>T (p.Glu404Val) c.1511A>T (p.Glu504Val) n.1962A>T | |
9 | g.104831763T>C | CA374324949 | ABCA1 | c.1574A>G (p.Glu525Gly) c.1394A>G (p.Glu465Gly) c.1649A>G (p.Glu550Gly) c.1211A>G (p.Glu404Gly) c.1511A>G (p.Glu504Gly) n.1962A>G | |
9 | g.104831763T>G | CA374324951 | ABCA1 | c.1574A>C (p.Glu525Ala) c.1394A>C (p.Glu465Ala) c.1649A>C (p.Glu550Ala) c.1211A>C (p.Glu404Ala) c.1511A>C (p.Glu504Ala) n.1962A>C | |
9 | g.104831764C>A | CA374324954 | ABCA1 | c.1573G>T (p.Glu525Ter) c.1393G>T (p.Glu465Ter) c.1648G>T (p.Glu550Ter) c.1210G>T (p.Glu404Ter) c.1510G>T (p.Glu504Ter) n.1961G>T | |
9 | g.104831764C>G | CA374324956 | ABCA1 | c.1573G>C (p.Glu525Gln) c.1393G>C (p.Glu465Gln) c.1648G>C (p.Glu550Gln) c.1210G>C (p.Glu404Gln) c.1510G>C (p.Glu504Gln) n.1961G>C | |
9 | g.104831764C>T | CA374324958 | ABCA1 | c.1573G>A (p.Glu525Lys) c.1393G>A (p.Glu465Lys) c.1648G>A (p.Glu550Lys) c.1210G>A (p.Glu404Lys) c.1510G>A (p.Glu504Lys) n.1961G>A | |
9 | g.104831765C>A | CA374324961 | ABCA1 | c.1572G>T (p.Met524Ile) c.1392G>T (p.Met464Ile) c.1647G>T (p.Met549Ile) c.1209G>T (p.Met403Ile) c.1509G>T (p.Met503Ile) n.1960G>T | |
9 | g.104831765C>G | CA374324963 | ABCA1 | c.1572G>C (p.Met524Ile) c.1392G>C (p.Met464Ile) c.1647G>C (p.Met549Ile) c.1209G>C (p.Met403Ile) c.1509G>C (p.Met503Ile) n.1960G>C | |
9 | g.104831765C>T | CA374324965 | ABCA1 | c.1572G>A (p.Met524Ile) c.1392G>A (p.Met464Ile) c.1647G>A (p.Met549Ile) c.1209G>A (p.Met403Ile) c.1509G>A (p.Met503Ile) n.1960G>A | |
9 | g.104831766A= | CA1869925835 | ABCA1 | c.1571T= (p.Met524=) c.1391T= (p.Met464=) c.1646T= (p.Met549=) c.1208T= (p.Met403=) c.1508T= (p.Met503=) n.1959T= | |
9 | g.104831766A>C | CA374324968 | ABCA1 | c.1571T>G (p.Met524Arg) c.1391T>G (p.Met464Arg) c.1646T>G (p.Met549Arg) c.1208T>G (p.Met403Arg) c.1508T>G (p.Met503Arg) n.1959T>G | gnomAD v4 |
9 | g.104831766A>G | CA197397048 | ABCA1 | c.1571T>C (p.Met524Thr) c.1391T>C (p.Met464Thr) c.1646T>C (p.Met549Thr) c.1208T>C (p.Met403Thr) c.1508T>C (p.Met503Thr) n.1959T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831766A>T | CA374324972 | ABCA1 | c.1571T>A (p.Met524Lys) c.1391T>A (p.Met464Lys) c.1646T>A (p.Met549Lys) c.1208T>A (p.Met403Lys) c.1508T>A (p.Met503Lys) n.1959T>A | |
9 | g.104831767T>A | CA374324977 | ABCA1 | c.1570A>T (p.Met524Leu) c.1390A>T (p.Met464Leu) c.1645A>T (p.Met549Leu) c.1207A>T (p.Met403Leu) c.1507A>T (p.Met503Leu) n.1958A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831767T>C | CA197397051 | ABCA1 | c.1570A>G (p.Met524Val) c.1390A>G (p.Met464Val) c.1645A>G (p.Met549Val) c.1207A>G (p.Met403Val) c.1507A>G (p.Met503Val) n.1958A>G | dbSNP gnomAD v4 |
9 | g.104831767T>G | CA374324974 | ABCA1 | c.1570A>C (p.Met524Leu) c.1390A>C (p.Met464Leu) c.1645A>C (p.Met549Leu) c.1207A>C (p.Met403Leu) c.1507A>C (p.Met503Leu) n.1958A>C | |
9 | g.104831767T= | CA1869925844 | ABCA1 | c.1570A= (p.Met524=) c.1390A= (p.Met464=) c.1645A= (p.Met549=) c.1207A= (p.Met403=) c.1507A= (p.Met503=) n.1958A= | |
9 | g.104831768G>A | CA466513063 | ABCA1 | c.1569C>T (p.Ser523=) c.1389C>T (p.Ser463=) c.1644C>T (p.Ser548=) c.1206C>T (p.Ser402=) c.1506C>T (p.Ser502=) n.1957C>T | |
9 | g.104831768G>C | CA466513065 | ABCA1 | c.1569C>G (p.Ser523=) c.1389C>G (p.Ser463=) c.1644C>G (p.Ser548=) c.1206C>G (p.Ser402=) c.1506C>G (p.Ser502=) n.1957C>G | |
9 | g.104831768G>T | CA466513067 | ABCA1 | c.1569C>A (p.Ser523=) c.1389C>A (p.Ser463=) c.1644C>A (p.Ser548=) c.1206C>A (p.Ser402=) c.1506C>A (p.Ser502=) n.1957C>A | |
9 | g.104831769G>A | CA5168969 | ABCA1 | c.1568C>T (p.Ser523Phe) c.1388C>T (p.Ser463Phe) c.1643C>T (p.Ser548Phe) c.1205C>T (p.Ser402Phe) c.1505C>T (p.Ser502Phe) n.1956C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831769G>C | CA374324981 | ABCA1 | c.1568C>G (p.Ser523Cys) c.1388C>G (p.Ser463Cys) c.1643C>G (p.Ser548Cys) c.1205C>G (p.Ser402Cys) c.1505C>G (p.Ser502Cys) n.1956C>G | |
9 | g.104831769G= | CA1869925854 | ABCA1 | c.1568C= (p.Ser523=) c.1388C= (p.Ser463=) c.1643C= (p.Ser548=) c.1205C= (p.Ser402=) c.1505C= (p.Ser502=) n.1956C= | |
9 | g.104831769G>T | CA374324983 | ABCA1 | c.1568C>A (p.Ser523Tyr) c.1388C>A (p.Ser463Tyr) c.1643C>A (p.Ser548Tyr) c.1205C>A (p.Ser402Tyr) c.1505C>A (p.Ser502Tyr) n.1956C>A | gnomAD v4 |
9 | g.104831770A>C | CA374324985 | ABCA1 | c.1567T>G (p.Ser523Ala) c.1387T>G (p.Ser463Ala) c.1642T>G (p.Ser548Ala) c.1204T>G (p.Ser402Ala) c.1504T>G (p.Ser502Ala) n.1955T>G | |
9 | g.104831770A>G | CA374324987 | ABCA1 | c.1567T>C (p.Ser523Pro) c.1387T>C (p.Ser463Pro) c.1642T>C (p.Ser548Pro) c.1204T>C (p.Ser402Pro) c.1504T>C (p.Ser502Pro) n.1955T>C | |
9 | g.104831770A>T | CA374324989 | ABCA1 | c.1567T>A (p.Ser523Thr) c.1387T>A (p.Ser463Thr) c.1642T>A (p.Ser548Thr) c.1204T>A (p.Ser402Thr) c.1504T>A (p.Ser502Thr) n.1955T>A | |
9 | g.104831771C>A | CA374324992 | ABCA1 | c.1566G>T (p.Lys522Asn) c.1386G>T (p.Lys462Asn) c.1641G>T (p.Lys547Asn) c.1203G>T (p.Lys401Asn) c.1503G>T (p.Lys501Asn) n.1954G>T | COSMIC |
9 | g.104831771C= | CA1869925863 | ABCA1 | c.1566G= (p.Lys522=) c.1386G= (p.Lys462=) c.1641G= (p.Lys547=) c.1203G= (p.Lys401=) c.1503G= (p.Lys501=) n.1954G= | |
9 | g.104831771C>G | CA374324994 | ABCA1 | c.1566G>C (p.Lys522Asn) c.1386G>C (p.Lys462Asn) c.1641G>C (p.Lys547Asn) c.1203G>C (p.Lys401Asn) c.1503G>C (p.Lys501Asn) n.1954G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831771C>T | CA5168970 | ABCA1 | c.1566G>A (p.Lys522=) c.1386G>A (p.Lys462=) c.1641G>A (p.Lys547=) c.1203G>A (p.Lys401=) c.1503G>A (p.Lys501=) n.1954G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831772T>A | CA374324997 | ABCA1 | c.1565A>T (p.Lys522Met) c.1385A>T (p.Lys462Met) c.1640A>T (p.Lys547Met) c.1202A>T (p.Lys401Met) c.1502A>T (p.Lys501Met) n.1953A>T | |
9 | g.104831772T>C | CA374325000 | ABCA1 | c.1565A>G (p.Lys522Arg) c.1385A>G (p.Lys462Arg) c.1640A>G (p.Lys547Arg) c.1202A>G (p.Lys401Arg) c.1502A>G (p.Lys501Arg) n.1953A>G | gnomAD v4 |
9 | g.104831772T>G | CA197397054 | ABCA1 | c.1565A>C (p.Lys522Thr) c.1385A>C (p.Lys462Thr) c.1640A>C (p.Lys547Thr) c.1202A>C (p.Lys401Thr) c.1502A>C (p.Lys501Thr) n.1953A>C | dbSNP |
9 | g.104831772T= | CA1869925870 | ABCA1 | c.1565A= (p.Lys522=) c.1385A= (p.Lys462=) c.1640A= (p.Lys547=) c.1202A= (p.Lys401=) c.1502A= (p.Lys501=) n.1953A= | |
9 | g.104831775_104831777del | CA2691053462 | ABCA1 | c.1563_1565del (p.Asn521del) c.1383_1385del (p.Asn461del) c.1638_1640del (p.Asn546del) c.1200_1202del (p.Asn400del) c.1500_1502del (p.Asn500del) n.1951_1953del | gnomAD v4 |
9 | g.104831773T>A | CA374325007 | ABCA1 | c.1564A>T (p.Lys522Ter) c.1384A>T (p.Lys462Ter) c.1639A>T (p.Lys547Ter) c.1201A>T (p.Lys401Ter) c.1501A>T (p.Lys501Ter) n.1952A>T | |
9 | g.104831773T>C | CA374325005 | ABCA1 | c.1564A>G (p.Lys522Glu) c.1384A>G (p.Lys462Glu) c.1639A>G (p.Lys547Glu) c.1201A>G (p.Lys401Glu) c.1501A>G (p.Lys501Glu) n.1952A>G | |
9 | g.104831773T>G | CA374325003 | ABCA1 | c.1564A>C (p.Lys522Gln) c.1384A>C (p.Lys462Gln) c.1639A>C (p.Lys547Gln) c.1201A>C (p.Lys401Gln) c.1501A>C (p.Lys501Gln) n.1952A>C | |
9 | g.104831774G>A | CA466513096 | ABCA1 | c.1563C>T (p.Asn521=) c.1383C>T (p.Asn461=) c.1638C>T (p.Asn546=) c.1200C>T (p.Asn400=) c.1500C>T (p.Asn500=) n.1951C>T | |
9 | g.104831774G>C | CA374325010 | ABCA1 | c.1563C>G (p.Asn521Lys) c.1383C>G (p.Asn461Lys) c.1638C>G (p.Asn546Lys) c.1200C>G (p.Asn400Lys) c.1500C>G (p.Asn500Lys) n.1951C>G | gnomAD v4 |
9 | g.104831774G>T | CA374325012 | ABCA1 | c.1563C>A (p.Asn521Lys) c.1383C>A (p.Asn461Lys) c.1638C>A (p.Asn546Lys) c.1200C>A (p.Asn400Lys) c.1500C>A (p.Asn500Lys) n.1951C>A | |
9 | g.104831775T>A | CA374325014 | ABCA1 | c.1562A>T (p.Asn521Ile) c.1382A>T (p.Asn461Ile) c.1637A>T (p.Asn546Ile) c.1199A>T (p.Asn400Ile) c.1499A>T (p.Asn500Ile) n.1950A>T | |
9 | g.104831775T>C | CA374325016 | ABCA1 | c.1562A>G (p.Asn521Ser) c.1382A>G (p.Asn461Ser) c.1637A>G (p.Asn546Ser) c.1199A>G (p.Asn400Ser) c.1499A>G (p.Asn500Ser) n.1950A>G | gnomAD v4 |
9 | g.104831775T>G | CA374325017 | ABCA1 | c.1562A>C (p.Asn521Thr) c.1382A>C (p.Asn461Thr) c.1637A>C (p.Asn546Thr) c.1199A>C (p.Asn400Thr) c.1499A>C (p.Asn500Thr) n.1950A>C | |
9 | g.104831776T>A | CA374325021 | ABCA1 | c.1561A>T (p.Asn521Tyr) c.1381A>T (p.Asn461Tyr) c.1636A>T (p.Asn546Tyr) c.1198A>T (p.Asn400Tyr) c.1498A>T (p.Asn500Tyr) n.1949A>T | |
9 | g.104831776T>C | CA374325023 | ABCA1 | c.1561A>G (p.Asn521Asp) c.1381A>G (p.Asn461Asp) c.1636A>G (p.Asn546Asp) c.1198A>G (p.Asn400Asp) c.1498A>G (p.Asn500Asp) n.1949A>G | |
9 | g.104831776T>G | CA374325024 | ABCA1 | c.1561A>C (p.Asn521His) c.1381A>C (p.Asn461His) c.1636A>C (p.Asn546His) c.1198A>C (p.Asn400His) c.1498A>C (p.Asn500His) n.1949A>C | |
9 | g.104831777G>A | CA466513113 | ABCA1 | c.1560C>T (p.Ile520=) c.1380C>T (p.Ile460=) c.1635C>T (p.Ile545=) c.1197C>T (p.Ile399=) c.1497C>T (p.Ile499=) n.1948C>T | |
9 | g.104831777G>C | CA374325027 | ABCA1 | c.1560C>G (p.Ile520Met) c.1380C>G (p.Ile460Met) c.1635C>G (p.Ile545Met) c.1197C>G (p.Ile399Met) c.1497C>G (p.Ile499Met) n.1948C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831777G= | CA1869925875 | ABCA1 | c.1560C= (p.Ile520=) c.1380C= (p.Ile460=) c.1635C= (p.Ile545=) c.1197C= (p.Ile399=) c.1497C= (p.Ile499=) n.1948C= | |
9 | g.104831777G>T | CA466513117 | ABCA1 | c.1560C>A (p.Ile520=) c.1380C>A (p.Ile460=) c.1635C>A (p.Ile545=) c.1197C>A (p.Ile399=) c.1497C>A (p.Ile499=) n.1948C>A | |
9 | g.104831778A>C | CA374325030 | ABCA1 | c.1559T>G (p.Ile520Ser) c.1379T>G (p.Ile460Ser) c.1634T>G (p.Ile545Ser) c.1196T>G (p.Ile399Ser) c.1496T>G (p.Ile499Ser) n.1947T>G | |
9 | g.104831778A>G | CA374325032 | ABCA1 | c.1559T>C (p.Ile520Thr) c.1379T>C (p.Ile460Thr) c.1634T>C (p.Ile545Thr) c.1196T>C (p.Ile399Thr) c.1496T>C (p.Ile499Thr) n.1947T>C | |
9 | g.104831778A>T | CA374325034 | ABCA1 | c.1559T>A (p.Ile520Asn) c.1379T>A (p.Ile460Asn) c.1634T>A (p.Ile545Asn) c.1196T>A (p.Ile399Asn) c.1496T>A (p.Ile499Asn) n.1947T>A | |
9 | g.104831779T>A | CA374325037 | ABCA1 | c.1558A>T (p.Ile520Phe) c.1378A>T (p.Ile460Phe) c.1633A>T (p.Ile545Phe) c.1195A>T (p.Ile399Phe) c.1495A>T (p.Ile499Phe) n.1946A>T | |
9 | g.104831779T>C | CA374325039 | ABCA1 | c.1558A>G (p.Ile520Val) c.1378A>G (p.Ile460Val) c.1633A>G (p.Ile545Val) c.1195A>G (p.Ile399Val) c.1495A>G (p.Ile499Val) n.1946A>G | gnomAD v4 |
9 | g.104831779T>G | CA374325041 | ABCA1 | c.1558A>C (p.Ile520Leu) c.1378A>C (p.Ile460Leu) c.1633A>C (p.Ile545Leu) c.1195A>C (p.Ile399Leu) c.1495A>C (p.Ile499Leu) n.1946A>C | |
9 | g.104831780G>A | CA466513129 | ABCA1 | c.1557C>T (p.Leu519=) c.1377C>T (p.Leu459=) c.1632C>T (p.Leu544=) c.1194C>T (p.Leu398=) c.1494C>T (p.Leu498=) n.1945C>T | |
9 | g.104831780G>C | CA466513132 | ABCA1 | c.1557C>G (p.Leu519=) c.1377C>G (p.Leu459=) c.1632C>G (p.Leu544=) c.1194C>G (p.Leu398=) c.1494C>G (p.Leu498=) n.1945C>G | |
9 | g.104831780G>T | CA466513131 | ABCA1 | c.1557C>A (p.Leu519=) c.1377C>A (p.Leu459=) c.1632C>A (p.Leu544=) c.1194C>A (p.Leu398=) c.1494C>A (p.Leu498=) n.1945C>A | |
9 | g.104831781A>C | CA374325044 | ABCA1 | c.1556T>G (p.Leu519Arg) c.1376T>G (p.Leu459Arg) c.1631T>G (p.Leu544Arg) c.1193T>G (p.Leu398Arg) c.1493T>G (p.Leu498Arg) n.1944T>G | |
9 | g.104831781A>G | CA374325048 | ABCA1 | c.1556T>C (p.Leu519Pro) c.1376T>C (p.Leu459Pro) c.1631T>C (p.Leu544Pro) c.1193T>C (p.Leu398Pro) c.1493T>C (p.Leu498Pro) n.1944T>C | |
9 | g.104831781A>T | CA374325046 | ABCA1 | c.1556T>A (p.Leu519His) c.1376T>A (p.Leu459His) c.1631T>A (p.Leu544His) c.1193T>A (p.Leu398His) c.1493T>A (p.Leu498His) n.1944T>A | |
9 | g.104831782G>A | CA374325051 | ABCA1 | c.1555C>T (p.Leu519Phe) c.1375C>T (p.Leu459Phe) c.1630C>T (p.Leu544Phe) c.1192C>T (p.Leu398Phe) c.1492C>T (p.Leu498Phe) n.1943C>T | |
9 | g.104831782G>C | CA374325053 | ABCA1 | c.1555C>G (p.Leu519Val) c.1375C>G (p.Leu459Val) c.1630C>G (p.Leu544Val) c.1192C>G (p.Leu398Val) c.1492C>G (p.Leu498Val) n.1943C>G | |
9 | g.104831782G>T | CA374325055 | ABCA1 | c.1555C>A (p.Leu519Ile) c.1375C>A (p.Leu459Ile) c.1630C>A (p.Leu544Ile) c.1192C>A (p.Leu398Ile) c.1492C>A (p.Leu498Ile) n.1943C>A | |
9 | g.104831783C>A | CA374325058 | ABCA1 | c.1554G>T (p.Trp518Cys) c.1374G>T (p.Trp458Cys) c.1629G>T (p.Trp543Cys) c.1191G>T (p.Trp397Cys) c.1491G>T (p.Trp497Cys) n.1942G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831783C= | CA1869925878 | ABCA1 | c.1554G= (p.Trp518=) c.1374G= (p.Trp458=) c.1629G= (p.Trp543=) c.1191G= (p.Trp397=) c.1491G= (p.Trp497=) n.1942G= | |
9 | g.104831783C>G | CA374325060 | ABCA1 | c.1554G>C (p.Trp518Cys) c.1374G>C (p.Trp458Cys) c.1629G>C (p.Trp543Cys) c.1191G>C (p.Trp397Cys) c.1491G>C (p.Trp497Cys) n.1942G>C | |
9 | g.104831783C>T | CA374325062 | ABCA1 | c.1554G>A (p.Trp518Ter) c.1374G>A (p.Trp458Ter) c.1629G>A (p.Trp543Ter) c.1191G>A (p.Trp397Ter) c.1491G>A (p.Trp497Ter) n.1942G>A | |
9 | g.104831784C>A | CA374325064 | ABCA1 | c.1553G>T (p.Trp518Leu) c.1373G>T (p.Trp458Leu) c.1628G>T (p.Trp543Leu) c.1190G>T (p.Trp397Leu) c.1490G>T (p.Trp497Leu) n.1941G>T | |
9 | g.104831784C>G | CA374325066 | ABCA1 | c.1553G>C (p.Trp518Ser) c.1373G>C (p.Trp458Ser) c.1628G>C (p.Trp543Ser) c.1190G>C (p.Trp397Ser) c.1490G>C (p.Trp497Ser) n.1941G>C | |
9 | g.104831784C>T | CA374325068 | ABCA1 | c.1553G>A (p.Trp518Ter) c.1373G>A (p.Trp458Ter) c.1628G>A (p.Trp543Ter) c.1190G>A (p.Trp397Ter) c.1490G>A (p.Trp497Ter) n.1941G>A | |
9 | g.104831785A>C | CA374325072 | ABCA1 | c.1552T>G (p.Trp518Gly) c.1372T>G (p.Trp458Gly) c.1627T>G (p.Trp543Gly) c.1189T>G (p.Trp397Gly) c.1489T>G (p.Trp497Gly) n.1940T>G | |
9 | g.104831785A>G | CA374325073 | ABCA1 | c.1552T>C (p.Trp518Arg) c.1372T>C (p.Trp458Arg) c.1627T>C (p.Trp543Arg) c.1189T>C (p.Trp397Arg) c.1489T>C (p.Trp497Arg) n.1940T>C | |
9 | g.104831785A>T | CA374325075 | ABCA1 | c.1552T>A (p.Trp518Arg) c.1372T>A (p.Trp458Arg) c.1627T>A (p.Trp543Arg) c.1189T>A (p.Trp397Arg) c.1489T>A (p.Trp497Arg) n.1940T>A | |
9 | g.104831786G>A | CA466513172 | ABCA1 | c.1551C>T (p.Val517=) c.1371C>T (p.Val457=) c.1626C>T (p.Val542=) c.1188C>T (p.Val396=) c.1488C>T (p.Val496=) n.1939C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831786G>C | CA466513174 | ABCA1 | c.1551C>G (p.Val517=) c.1371C>G (p.Val457=) c.1626C>G (p.Val542=) c.1188C>G (p.Val396=) c.1488C>G (p.Val496=) n.1939C>G | |
9 | g.104831786G= | CA1869925881 | ABCA1 | c.1551C= (p.Val517=) c.1371C= (p.Val457=) c.1626C= (p.Val542=) c.1188C= (p.Val396=) c.1488C= (p.Val496=) n.1939C= | |
9 | g.104831786G>T | CA466513177 | ABCA1 | c.1551C>A (p.Val517=) c.1371C>A (p.Val457=) c.1626C>A (p.Val542=) c.1188C>A (p.Val396=) c.1488C>A (p.Val496=) n.1939C>A | |
9 | g.104831787A>C | CA374325078 | ABCA1 | c.1550T>G (p.Val517Gly) c.1370T>G (p.Val457Gly) c.1625T>G (p.Val542Gly) c.1187T>G (p.Val396Gly) c.1487T>G (p.Val496Gly) n.1938T>G | |
9 | g.104831787A>G | CA374325081 | ABCA1 | c.1550T>C (p.Val517Ala) c.1370T>C (p.Val457Ala) c.1625T>C (p.Val542Ala) c.1187T>C (p.Val396Ala) c.1487T>C (p.Val496Ala) n.1938T>C | |
9 | g.104831787A>T | CA374325080 | ABCA1 | c.1550T>A (p.Val517Asp) c.1370T>A (p.Val457Asp) c.1625T>A (p.Val542Asp) c.1187T>A (p.Val396Asp) c.1487T>A (p.Val496Asp) n.1938T>A | |
9 | g.104831788C>A | CA374325083 | ABCA1 | c.1549G>T (p.Val517Phe) c.1369G>T (p.Val457Phe) c.1624G>T (p.Val542Phe) c.1186G>T (p.Val396Phe) c.1486G>T (p.Val496Phe) n.1937G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831788C= | CA1869925888 | ABCA1 | c.1549G= (p.Val517=) c.1369G= (p.Val457=) c.1624G= (p.Val542=) c.1186G= (p.Val396=) c.1486G= (p.Val496=) n.1937G= | |
9 | g.104831788C>G | CA374325084 | ABCA1 | c.1549G>C (p.Val517Leu) c.1369G>C (p.Val457Leu) c.1624G>C (p.Val542Leu) c.1186G>C (p.Val396Leu) c.1486G>C (p.Val496Leu) n.1937G>C | gnomAD v4 |
9 | g.104831788C>T | CA374325087 | ABCA1 | c.1549G>A (p.Val517Ile) c.1369G>A (p.Val457Ile) c.1624G>A (p.Val542Ile) c.1186G>A (p.Val396Ile) c.1486G>A (p.Val496Ile) n.1937G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831789T>A | CA374325090 | ABCA1 | c.1548A>T (p.Glu516Asp) c.1368A>T (p.Glu456Asp) c.1623A>T (p.Glu541Asp) c.1185A>T (p.Glu395Asp) c.1485A>T (p.Glu495Asp) n.1936A>T | |
9 | g.104831789T>C | CA466513190 | ABCA1 | c.1548A>G (p.Glu516=) c.1368A>G (p.Glu456=) c.1623A>G (p.Glu541=) c.1185A>G (p.Glu395=) c.1485A>G (p.Glu495=) n.1936A>G | |
9 | g.104831789T>G | CA374325091 | ABCA1 | c.1548A>C (p.Glu516Asp) c.1368A>C (p.Glu456Asp) c.1623A>C (p.Glu541Asp) c.1185A>C (p.Glu395Asp) c.1485A>C (p.Glu495Asp) n.1936A>C | |
9 | g.104831790T>A | CA374325094 | ABCA1 | c.1547A>T (p.Glu516Val) c.1367A>T (p.Glu456Val) c.1622A>T (p.Glu541Val) c.1184A>T (p.Glu395Val) c.1484A>T (p.Glu495Val) n.1935A>T | |
9 | g.104831790T>C | CA374325096 | ABCA1 | c.1547A>G (p.Glu516Gly) c.1367A>G (p.Glu456Gly) c.1622A>G (p.Glu541Gly) c.1184A>G (p.Glu395Gly) c.1484A>G (p.Glu495Gly) n.1935A>G | |
9 | g.104831790T>G | CA374325098 | ABCA1 | c.1547A>C (p.Glu516Ala) c.1367A>C (p.Glu456Ala) c.1622A>C (p.Glu541Ala) c.1184A>C (p.Glu395Ala) c.1484A>C (p.Glu495Ala) n.1935A>C | |
9 | g.104831791C>A | CA197397057 | ABCA1 | c.1546G>T (p.Glu516Ter) c.1366G>T (p.Glu456Ter) c.1621G>T (p.Glu541Ter) c.1183G>T (p.Glu395Ter) c.1483G>T (p.Glu495Ter) n.1934G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.104831791C= | CA1869925892 | ABCA1 | c.1546G= (p.Glu516=) c.1366G= (p.Glu456=) c.1621G= (p.Glu541=) c.1183G= (p.Glu395=) c.1483G= (p.Glu495=) n.1934G= | |
9 | g.104831791C>G | CA374325102 | ABCA1 | c.1546G>C (p.Glu516Gln) c.1366G>C (p.Glu456Gln) c.1621G>C (p.Glu541Gln) c.1183G>C (p.Glu395Gln) c.1483G>C (p.Glu495Gln) n.1934G>C | |
9 | g.104831791C>T | CA374325104 | ABCA1 | c.1546G>A (p.Glu516Lys) c.1366G>A (p.Glu456Lys) c.1621G>A (p.Glu541Lys) c.1183G>A (p.Glu395Lys) c.1483G>A (p.Glu495Lys) n.1934G>A | |
9 | g.104831792T>A | CA466513207 | ABCA1 | c.1545A>T (p.Thr515=) c.1365A>T (p.Thr455=) c.1620A>T (p.Thr540=) c.1182A>T (p.Thr394=) c.1482A>T (p.Thr494=) n.1933A>T | |
9 | g.104831792T>C | CA466513208 | ABCA1 | c.1545A>G (p.Thr515=) c.1365A>G (p.Thr455=) c.1620A>G (p.Thr540=) c.1182A>G (p.Thr394=) c.1482A>G (p.Thr494=) n.1933A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831792T>G | CA466513213 | ABCA1 | c.1545A>C (p.Thr515=) c.1365A>C (p.Thr455=) c.1620A>C (p.Thr540=) c.1182A>C (p.Thr394=) c.1482A>C (p.Thr494=) n.1933A>C | gnomAD v4 |
9 | g.104831792T= | CA1869925897 | ABCA1 | c.1545A= (p.Thr515=) c.1365A= (p.Thr455=) c.1620A= (p.Thr540=) c.1182A= (p.Thr394=) c.1482A= (p.Thr494=) n.1933A= | |
9 | g.104831793G>A | CA374325111 | ABCA1 | c.1544C>T (p.Thr515Ile) c.1364C>T (p.Thr455Ile) c.1619C>T (p.Thr540Ile) c.1181C>T (p.Thr394Ile) c.1481C>T (p.Thr494Ile) n.1932C>T | |
9 | g.104831793G>C | CA374325109 | ABCA1 | c.1544C>G (p.Thr515Arg) c.1364C>G (p.Thr455Arg) c.1619C>G (p.Thr540Arg) c.1181C>G (p.Thr394Arg) c.1481C>G (p.Thr494Arg) n.1932C>G | |
9 | g.104831793G>T | CA374325107 | ABCA1 | c.1544C>A (p.Thr515Lys) c.1364C>A (p.Thr455Lys) c.1619C>A (p.Thr540Lys) c.1181C>A (p.Thr394Lys) c.1481C>A (p.Thr494Lys) n.1932C>A | |
9 | g.104831794T>A | CA374325113 | ABCA1 | c.1543A>T (p.Thr515Ser) c.1363A>T (p.Thr455Ser) c.1618A>T (p.Thr540Ser) c.1180A>T (p.Thr394Ser) c.1480A>T (p.Thr494Ser) n.1931A>T | |
9 | g.104831794T>C | CA5168971 | ABCA1 | c.1543A>G (p.Thr515Ala) c.1363A>G (p.Thr455Ala) c.1618A>G (p.Thr540Ala) c.1180A>G (p.Thr394Ala) c.1480A>G (p.Thr494Ala) n.1931A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831794T>G | CA374325116 | ABCA1 | c.1543A>C (p.Thr515Pro) c.1363A>C (p.Thr455Pro) c.1618A>C (p.Thr540Pro) c.1180A>C (p.Thr394Pro) c.1480A>C (p.Thr494Pro) n.1931A>C | |
9 | g.104831794T= | CA1869925901 | ABCA1 | c.1543A= (p.Thr515=) c.1363A= (p.Thr455=) c.1618A= (p.Thr540=) c.1180A= (p.Thr394=) c.1480A= (p.Thr494=) n.1931A= | |
9 | g.104831795T>A | CA466513226 | ABCA1 | c.1542A>T (p.Ala514=) c.1362A>T (p.Ala454=) c.1617A>T (p.Ala539=) c.1179A>T (p.Ala393=) c.1479A>T (p.Ala493=) n.1930A>T | |
9 | g.104831795T>C | CA466513228 | ABCA1 | c.1542A>G (p.Ala514=) c.1362A>G (p.Ala454=) c.1617A>G (p.Ala539=) c.1179A>G (p.Ala393=) c.1479A>G (p.Ala493=) n.1930A>G | |
9 | g.104831795T>G | CA466513231 | ABCA1 | c.1542A>C (p.Ala514=) c.1362A>C (p.Ala454=) c.1617A>C (p.Ala539=) c.1179A>C (p.Ala393=) c.1479A>C (p.Ala493=) n.1930A>C | |
9 | g.104831796G>A | CA374325118 | ABCA1 | c.1541C>T (p.Ala514Val) c.1361C>T (p.Ala454Val) c.1616C>T (p.Ala539Val) c.1178C>T (p.Ala393Val) c.1478C>T (p.Ala493Val) n.1929C>T | ClinVar gnomAD v4 |
9 | g.104831796G>C | CA374325120 | ABCA1 | c.1541C>G (p.Ala514Gly) c.1361C>G (p.Ala454Gly) c.1616C>G (p.Ala539Gly) c.1178C>G (p.Ala393Gly) c.1478C>G (p.Ala493Gly) n.1929C>G | |
9 | g.104831796G>T | CA374325122 | ABCA1 | c.1541C>A (p.Ala514Glu) c.1361C>A (p.Ala454Glu) c.1616C>A (p.Ala539Glu) c.1178C>A (p.Ala393Glu) c.1478C>A (p.Ala493Glu) n.1929C>A | |
9 | g.104831797C>A | CA374325125 | ABCA1 | c.1540G>T (p.Ala514Ser) c.1360G>T (p.Ala454Ser) c.1615G>T (p.Ala539Ser) c.1177G>T (p.Ala393Ser) c.1477G>T (p.Ala493Ser) n.1928G>T | |
9 | g.104831797C>G | CA374325127 | ABCA1 | c.1540G>C (p.Ala514Pro) c.1360G>C (p.Ala454Pro) c.1615G>C (p.Ala539Pro) c.1177G>C (p.Ala393Pro) c.1477G>C (p.Ala493Pro) n.1928G>C | |
9 | g.104831797C>T | CA374325129 | ABCA1 | c.1540G>A (p.Ala514Thr) c.1360G>A (p.Ala454Thr) c.1615G>A (p.Ala539Thr) c.1177G>A (p.Ala393Thr) c.1477G>A (p.Ala493Thr) n.1928G>A | |
9 | g.104831798T>A | CA466513245 | ABCA1 | c.1539A>T (p.Ile513=) c.1359A>T (p.Ile453=) c.1614A>T (p.Ile538=) c.1176A>T (p.Ile392=) c.1476A>T (p.Ile492=) n.1927A>T | |
9 | g.104831798T>C | CA374325131 | ABCA1 | c.1539A>G (p.Ile513Met) c.1359A>G (p.Ile453Met) c.1614A>G (p.Ile538Met) c.1176A>G (p.Ile392Met) c.1476A>G (p.Ile492Met) n.1927A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831798T>G | CA466513246 | ABCA1 | c.1539A>C (p.Ile513=) c.1359A>C (p.Ile453=) c.1614A>C (p.Ile538=) c.1176A>C (p.Ile392=) c.1476A>C (p.Ile492=) n.1927A>C | |
9 | g.104831798T= | CA1869925909 | ABCA1 | c.1539A= (p.Ile513=) c.1359A= (p.Ile453=) c.1614A= (p.Ile538=) c.1176A= (p.Ile392=) c.1476A= (p.Ile492=) n.1927A= | |
9 | g.104831799A= | CA1869925910 | ABCA1 | c.1538T= (p.Ile513=) c.1358T= (p.Ile453=) c.1613T= (p.Ile538=) c.1175T= (p.Ile392=) c.1475T= (p.Ile492=) n.1926T= | |
9 | g.104831799A>C | CA374325134 | ABCA1 | c.1538T>G (p.Ile513Arg) c.1358T>G (p.Ile453Arg) c.1613T>G (p.Ile538Arg) c.1175T>G (p.Ile392Arg) c.1475T>G (p.Ile492Arg) n.1926T>G | |
9 | g.104831799A>G | CA374325136 | ABCA1 | c.1538T>C (p.Ile513Thr) c.1358T>C (p.Ile453Thr) c.1613T>C (p.Ile538Thr) c.1175T>C (p.Ile392Thr) c.1475T>C (p.Ile492Thr) n.1926T>C | |
9 | g.104831799A>T | CA374325138 | ABCA1 | c.1538T>A (p.Ile513Lys) c.1358T>A (p.Ile453Lys) c.1613T>A (p.Ile538Lys) c.1175T>A (p.Ile392Lys) c.1475T>A (p.Ile492Lys) n.1926T>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.104831800T>A | CA374325142 | ABCA1 | c.1537A>T (p.Ile513Leu) c.1357A>T (p.Ile453Leu) c.1612A>T (p.Ile538Leu) c.1174A>T (p.Ile392Leu) c.1474A>T (p.Ile492Leu) n.1925A>T | |
9 | g.104831800T>C | CA374325144 | ABCA1 | c.1537A>G (p.Ile513Val) c.1357A>G (p.Ile453Val) c.1612A>G (p.Ile538Val) c.1174A>G (p.Ile392Val) c.1474A>G (p.Ile492Val) n.1925A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831800T>G | CA374325141 | ABCA1 | c.1537A>C (p.Ile513Leu) c.1357A>C (p.Ile453Leu) c.1612A>C (p.Ile538Leu) c.1174A>C (p.Ile392Leu) c.1474A>C (p.Ile492Leu) n.1925A>C | ClinVar dbSNP gnomAD v4 |
9 | g.104831800T= | CA1869925921 | ABCA1 | c.1537A= (p.Ile513=) c.1357A= (p.Ile453=) c.1612A= (p.Ile538=) c.1174A= (p.Ile392=) c.1474A= (p.Ile492=) n.1925A= | |
9 | g.104831801G>A | CA466513261 | ABCA1 | c.1536C>T (p.Pro512=) c.1356C>T (p.Pro452=) c.1611C>T (p.Pro537=) c.1173C>T (p.Pro391=) c.1473C>T (p.Pro491=) n.1924C>T | |
9 | g.104831801G>C | CA466513259 | ABCA1 | c.1536C>G (p.Pro512=) c.1356C>G (p.Pro452=) c.1611C>G (p.Pro537=) c.1173C>G (p.Pro391=) c.1473C>G (p.Pro491=) n.1924C>G | |
9 | g.104831801G>T | CA466513257 | ABCA1 | c.1536C>A (p.Pro512=) c.1356C>A (p.Pro452=) c.1611C>A (p.Pro537=) c.1173C>A (p.Pro391=) c.1473C>A (p.Pro491=) n.1924C>A | |
9 | g.104831802G>A | CA374325151 | ABCA1 | c.1535C>T (p.Pro512Leu) c.1355C>T (p.Pro452Leu) c.1610C>T (p.Pro537Leu) c.1172C>T (p.Pro391Leu) c.1472C>T (p.Pro491Leu) n.1923C>T | |
9 | g.104831802G>C | CA374325147 | ABCA1 | c.1535C>G (p.Pro512Arg) c.1355C>G (p.Pro452Arg) c.1610C>G (p.Pro537Arg) c.1172C>G (p.Pro391Arg) c.1472C>G (p.Pro491Arg) n.1923C>G | |
9 | g.104831802G>T | CA374325149 | ABCA1 | c.1535C>A (p.Pro512His) c.1355C>A (p.Pro452His) c.1610C>A (p.Pro537His) c.1172C>A (p.Pro391His) c.1472C>A (p.Pro491His) n.1923C>A | |
9 | g.104831803G>A | CA374325153 | ABCA1 | c.1534C>T (p.Pro512Ser) c.1354C>T (p.Pro452Ser) c.1609C>T (p.Pro537Ser) c.1171C>T (p.Pro391Ser) c.1471C>T (p.Pro491Ser) n.1922C>T | |
9 | g.104831803G>C | CA374325155 | ABCA1 | c.1534C>G (p.Pro512Ala) c.1354C>G (p.Pro452Ala) c.1609C>G (p.Pro537Ala) c.1171C>G (p.Pro391Ala) c.1471C>G (p.Pro491Ala) n.1922C>G | |
9 | g.104831803G>T | CA374325157 | ABCA1 | c.1534C>A (p.Pro512Thr) c.1354C>A (p.Pro452Thr) c.1609C>A (p.Pro537Thr) c.1171C>A (p.Pro391Thr) c.1471C>A (p.Pro491Thr) n.1922C>A | |
9 | g.104831804T>A | CA374325160 | ABCA1 | c.1533A>T (p.Glu511Asp) c.1353A>T (p.Glu451Asp) c.1608A>T (p.Glu536Asp) c.1170A>T (p.Glu390Asp) c.1470A>T (p.Glu490Asp) n.1921A>T | |
9 | g.104831804T>C | CA5168972 | ABCA1 | c.1533A>G (p.Glu511=) c.1353A>G (p.Glu451=) c.1608A>G (p.Glu536=) c.1170A>G (p.Glu390=) c.1470A>G (p.Glu490=) n.1921A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.104831804T>G | CA374325163 | ABCA1 | c.1533A>C (p.Glu511Asp) c.1353A>C (p.Glu451Asp) c.1608A>C (p.Glu536Asp) c.1170A>C (p.Glu390Asp) c.1470A>C (p.Glu490Asp) n.1921A>C | |
9 | g.104831804T= | CA1869925929 | ABCA1 | c.1533A= (p.Glu511=) c.1353A= (p.Glu451=) c.1608A= (p.Glu536=) c.1170A= (p.Glu390=) c.1470A= (p.Glu490=) n.1921A= | |
9 | g.104831805T>A | CA374325165 | ABCA1 | c.1532A>T (p.Glu511Val) c.1352A>T (p.Glu451Val) c.1607A>T (p.Glu536Val) c.1169A>T (p.Glu390Val) c.1469A>T (p.Glu490Val) n.1920A>T | |
9 | g.104831805T>C | CA374325168 | ABCA1 | c.1532A>G (p.Glu511Gly) c.1352A>G (p.Glu451Gly) c.1607A>G (p.Glu536Gly) c.1169A>G (p.Glu390Gly) c.1469A>G (p.Glu490Gly) n.1920A>G | |
9 | g.104831805T>G | CA374325166 | ABCA1 | c.1532A>C (p.Glu511Ala) c.1352A>C (p.Glu451Ala) c.1607A>C (p.Glu536Ala) c.1169A>C (p.Glu390Ala) c.1469A>C (p.Glu490Ala) n.1920A>C | |
9 | g.104831806C>A | CA374325170 | ABCA1 | c.1531G>T (p.Glu511Ter) c.1351G>T (p.Glu451Ter) c.1606G>T (p.Glu536Ter) c.1168G>T (p.Glu390Ter) c.1468G>T (p.Glu490Ter) n.1919G>T | |
9 | g.104831806C>G | CA374325172 | ABCA1 | c.1531G>C (p.Glu511Gln) c.1351G>C (p.Glu451Gln) c.1606G>C (p.Glu536Gln) c.1168G>C (p.Glu390Gln) c.1468G>C (p.Glu490Gln) n.1919G>C | |
9 | g.104831806C>T | CA374325174 | ABCA1 | c.1531G>A (p.Glu511Lys) c.1351G>A (p.Glu451Lys) c.1606G>A (p.Glu536Lys) c.1168G>A (p.Glu390Lys) c.1468G>A (p.Glu490Lys) n.1919G>A | |
9 | g.104831807T>A | CA466513293 | ABCA1 | c.1530A>T (p.Leu510=) c.1350A>T (p.Leu450=) c.1605A>T (p.Leu535=) c.1167A>T (p.Leu389=) c.1467A>T (p.Leu489=) n.1918A>T | |
9 | g.104831807T>C | CA5168973 | ABCA1 | c.1530A>G (p.Leu510=) c.1350A>G (p.Leu450=) c.1605A>G (p.Leu535=) c.1167A>G (p.Leu389=) c.1467A>G (p.Leu489=) n.1918A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.104831807T>G | CA466513296 | ABCA1 | c.1530A>C (p.Leu510=) c.1350A>C (p.Leu450=) c.1605A>C (p.Leu535=) c.1167A>C (p.Leu389=) c.1467A>C (p.Leu489=) n.1918A>C | |
9 | g.104831807T= | CA1869925939 | ABCA1 | c.1530A= (p.Leu510=) c.1350A= (p.Leu450=) c.1605A= (p.Leu535=) c.1167A= (p.Leu389=) c.1467A= (p.Leu489=) n.1918A= | |
9 | g.104831808A>C | CA374325182 | ABCA1 | c.1529T>G (p.Leu510Arg) c.1349T>G (p.Leu450Arg) c.1604T>G (p.Leu535Arg) c.1166T>G (p.Leu389Arg) c.1466T>G (p.Leu489Arg) n.1917T>G | |
9 | g.104831808A>G | CA374325178 | ABCA1 | c.1529T>C (p.Leu510Pro) c.1349T>C (p.Leu450Pro) c.1604T>C (p.Leu535Pro) c.1166T>C (p.Leu389Pro) c.1466T>C (p.Leu489Pro) n.1917T>C | |
9 | g.104831808A>T | CA374325180 | ABCA1 | c.1529T>A (p.Leu510Gln) c.1349T>A (p.Leu450Gln) c.1604T>A (p.Leu535Gln) c.1166T>A (p.Leu389Gln) c.1466T>A (p.Leu489Gln) n.1917T>A | |
9 | g.104831809G>A | CA466513309 | ABCA1 | c.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 |
9 | g.104831809G>C | CA197397063 | ABCA1 | c.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 |
9 | g.104831809G= | CA1869925950 | ABCA1 | c.1528C= (p.Leu510=) c.1348C= (p.Leu450=) c.1603C= (p.Leu535=) c.1165C= (p.Leu389=) c.1465C= (p.Leu489=) n.1916C= | |
9 | g.104831809G>T | CA374325186 | ABCA1 | c.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 | |
9 | g.104831810C>A | CA374325188 | ABCA1 | c.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 | |
9 | g.104831810C>G | CA374325190 | ABCA1 | c.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 | |
9 | g.104831810C>T | CA466513316 | ABCA1 | c.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 | |
9 | g.104831811T>A | CA374325192 | ABCA1 | c.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 | |
9 | g.104831811T>C | CA374325194 | ABCA1 | c.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 |
9 | g.104831811T>G | CA374325196 | ABCA1 | c.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 | |
9 | g.104831812T>A | CA374325199 | ABCA1 | c.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 | |
9 | g.104831812T>C | CA374325201 | ABCA1 | c.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 | |
9 | g.104831812T>G | CA374325203 | ABCA1 | c.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 | |
9 | g.104831814_104831830dup | CA2691053463 | ABCA1 | c.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 |
9 | g.104831813G>A | CA5168974 | ABCA1 | c.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 |
9 | g.104831813G>C | CA374325207 | ABCA1 | c.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 | |
9 | g.104831813G= | CA1869925961 | ABCA1 | c.1524C= (p.Asn508=) c.1344C= (p.Asn448=) c.1599C= (p.Asn533=) c.1161C= (p.Asn387=) c.1461C= (p.Asn487=) n.1912C= | |
9 | g.104831813G>T | CA374325209 | ABCA1 | c.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 | |
9 | g.104831814T>A | CA374325211 | ABCA1 | c.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 | |
9 | g.104831814T>C | CA5168976 | ABCA1 | c.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 |
9 | g.104831814T>G | CA5168975 | ABCA1 | c.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 |
9 | g.104831814T= | CA1869925965 | ABCA1 | c.1523A= (p.Asn508=) c.1343A= (p.Asn448=) c.1598A= (p.Asn533=) c.1160A= (p.Asn387=) c.1460A= (p.Asn487=) n.1911A= | |
9 | g.104831815T>A | CA374325215 | ABCA1 | c.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 | |
9 | g.104831815T>C | CA374325217 | ABCA1 | c.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 | |
9 | g.104831815T>G | CA374325218 | ABCA1 | c.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 | |
9 | g.104831816C>A | CA466513333 | ABCA1 | c.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 | |
9 | g.104831816C>G | CA466513335 | ABCA1 | c.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 | |
9 | g.104831816C>T | CA466513336 | ABCA1 | c.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 | |
9 | g.104831817A>C | CA374325220 | ABCA1 | c.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 | |
9 | g.104831817A>G | CA374325222 | ABCA1 | c.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 | |
9 | g.104831817A>T | CA374325224 | ABCA1 | c.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 | |
9 | g.104831818G>A | CA466513343 | ABCA1 | c.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 |
9 | g.104831818G>C | CA5168977 | ABCA1 | c.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 |
9 | g.104831818G= | CA1869925978 | ABCA1 | c.1519C= (p.Leu507=) c.1339C= (p.Leu447=) c.1594C= (p.Leu532=) c.1156C= (p.Leu386=) c.1456C= (p.Leu486=) n.1907C= | |
9 | g.104831818G>T | CA374325227 | ABCA1 | c.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 | |
9 | g.104831819G>A | CA5168978 | ABCA1 | c.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 |
9 | g.104831819G>C | CA374325232 | ABCA1 | c.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 | |
9 | g.104831819G= | CA1869925983 | ABCA1 | c.1518C= (p.Asn506=) c.1338C= (p.Asn446=) c.1593C= (p.Asn531=) c.1155C= (p.Asn385=) c.1455C= (p.Asn485=) n.1906C= | |
9 | g.104831819G>T | CA374325234 | ABCA1 | c.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 | |
9 | g.104831820T>A | CA374325237 | ABCA1 | c.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 |
9 | g.104831820T>C | CA5168979 | ABCA1 | c.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 |
9 | g.104831820T>G | CA374325239 | ABCA1 | c.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 | |
9 | g.104831820T= | CA1869925986 | ABCA1 | c.1517A= (p.Asn506=) c.1337A= (p.Asn446=) c.1592A= (p.Asn531=) c.1154A= (p.Asn385=) c.1454A= (p.Asn485=) n.1905A= | |
9 | g.104831821T>A | CA374325242 | ABCA1 | c.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 |
9 | g.104831821T>C | CA374325246 | ABCA1 | c.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 | |
9 | g.104831821T>G | CA374325244 | ABCA1 | c.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 | |
9 | g.104831821T= | CA1869925988 | ABCA1 | c.1516A= (p.Asn506=) c.1336A= (p.Asn446=) c.1591A= (p.Asn531=) c.1153A= (p.Asn385=) c.1453A= (p.Asn485=) n.1904A= | |
9 | g.104831822G>A | CA466513376 | ABCA1 | c.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 | |
9 | g.104831822G>C | CA197397072 | ABCA1 | c.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 |
9 | g.104831822G= | CA1869925993 | ABCA1 | c.1515C= (p.Val505=) c.1335C= (p.Val445=) c.1590C= (p.Val530=) c.1152C= (p.Val384=) c.1452C= (p.Val484=) n.1903C= | |
9 | g.104831822G>T | CA466513374 | ABCA1 | c.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 | |
9 | g.104831823A>C | CA374325249 | ABCA1 | c.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 | |
9 | g.104831823A>G | CA374325251 | ABCA1 | c.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 |
9 | g.104831823A>T | CA374325253 | ABCA1 | c.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 | |
9 | g.104831823_104831824delinsAC | CA1869925996 | ABCA1 | c.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 | |
9 | g.104831827_104831828dup | CA2785407728 | ABCA1 | c.1513_1514dup c.1333_1334dup c.1588_1589dup c.1150_1151dup c.1450_1451dup n.1901_1902dup | |
9 | g.104831824del | CA1127665109 | ABCA1 | c.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 |
9 | g.104831824C>A | CA374325256 | ABCA1 | c.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 | |
9 | g.104831824C>G | CA374325258 | ABCA1 | c.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 | |
9 | g.104831824C>T | CA374325260 | ABCA1 | c.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 |
9 | g.104831825A>C | CA374325262 | ABCA1 | c.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 | |
9 | g.104831825A>G | CA466513397 | ABCA1 | c.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 | |
9 | g.104831825A>T | CA374325264 | ABCA1 | c.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 | |
9 | g.104831826C>A | CA374325267 | ABCA1 | c.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 | |
9 | g.104831826C>G | CA374325269 | ABCA1 | c.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 | |
9 | g.104831826C>T | CA374325271 | ABCA1 | c.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 |
9 | g.104831827A>C | CA374325273 | ABCA1 | c.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 | |
9 | g.104831827A>G | CA374325277 | ABCA1 | c.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 | |
9 | g.104831827A>T | CA374325275 | ABCA1 | c.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 | |
9 | g.104831828C>A | CA374325280 | ABCA1 | c.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 |
9 | g.104831828C>G | CA374325283 | ABCA1 | c.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 | |
9 | g.104831828C>T | CA374325281 | ABCA1 | c.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 | |
9 | g.104831829T>A | CA374325286 | ABCA1 | c.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 | |
9 | g.104831829T>C | CA374325288 | ABCA1 | c.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 | |
9 | g.104831829T>G | CA197397078 | ABCA1 | c.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 |
9 | g.104831829T= | CA1869926000 | ABCA1 | c.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= | |
9 | g.104831830G>A | CA2691053464 | ABCA1 | c.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 |
9 | g.104831832T>C | CA2579406991 | ABCA1 | c.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 |
9 | g.104831832_104831835delinsTAGA | CA1869926003 | ABCA1 | c.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 | |
9 | g.104831833A= | CA1869926008 | ABCA1 | c.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= | |
9 | g.104831833A>G | CA858051265 | ABCA1 | c.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 |
9 | g.104831837_104831839del | CA5168980 | ABCA1 | c.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 |
9 | g.104831834G>A | CA5168981 | ABCA1 | c.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 |
9 | g.104831834G= | CA1869926039 | ABCA1 | c.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= | |
9 | g.104831834G>T | CA197397107 | ABCA1 | c.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 |
9 | g.104831836A= | CA1869926044 | ABCA1 | c.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= | |
9 | g.104831836A>G | CA858051271 | ABCA1 | c.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 |
9 | g.104831837G>C | CA2720366234 | ABCA1 | c.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 |
9 | g.104831840C= | CA1869926046 | ABCA1 | c.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= | |
9 | g.104831840C>T | CA5168982 | ABCA1 | c.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 |
9 | g.104831841A>G | CA2691053465 | ABCA1 | c.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 |
9 | g.104831842G>A | CA2691053466 | ABCA1 | c.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 |
9 | g.104831843C>G | CA2579406992 | ABCA1 | c.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 | |
9 | g.104831845T>G | CA1127665116 | ABCA1 | c.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 |
9 | g.104831845T= | CA1869926049 | ABCA1 | c.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= | |
9 | g.104831847C= | CA1869926054 | ABCA1 | c.1510-20G= (n.1510-20G=) c.1330-20G= (n.1330-20G=) c.1585-20G= (n.1585-20G=) c.1147-20G= (n.1147-20G=) c.1447-20G= (n.1447-20G=) n.1898-20G= | |
9 | g.104831847C>T | CA858051281 | ABCA1 | c.1510-20G>A (n.1510-20G>A) c.1330-20G>A (n.1330-20G>A) c.1585-20G>A (n.1585-20G>A) c.1147-20G>A (n.1147-20G>A) c.1447-20G>A (n.1447-20G>A) n.1898-20G>A | dbSNP gnomAD v3 gnomAD v4 |