Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104830957T>ACA374322781ABCA1c.1860A>T (p.Gln620His)
n.33A>T
c.1680A>T (p.Gln560His)
c.1935A>T (p.Gln645His)
c.1497A>T (p.Gln499His)
c.1797A>T (p.Gln599His)
n.2248A>T
9g.104830957T>CCA466511896ABCA1c.1860A>G (p.Gln620=)
n.33A>G
c.1680A>G (p.Gln560=)
c.1935A>G (p.Gln645=)
c.1497A>G (p.Gln499=)
c.1797A>G (p.Gln599=)
n.2248A>G
 gnomAD v3 gnomAD v4
9g.104830957T>GCA374322780ABCA1c.1860A>C (p.Gln620His)
n.33A>C
c.1680A>C (p.Gln560His)
c.1935A>C (p.Gln645His)
c.1497A>C (p.Gln499His)
c.1797A>C (p.Gln599His)
n.2248A>C
9g.104830958T>ACA374322782ABCA1c.1859A>T (p.Gln620Leu)
n.32A>T
c.1679A>T (p.Gln560Leu)
c.1934A>T (p.Gln645Leu)
c.1496A>T (p.Gln499Leu)
c.1796A>T (p.Gln599Leu)
n.2247A>T
9g.104830958T>CCA374322783ABCA1c.1859A>G (p.Gln620Arg)
n.32A>G
c.1679A>G (p.Gln560Arg)
c.1934A>G (p.Gln645Arg)
c.1496A>G (p.Gln499Arg)
c.1796A>G (p.Gln599Arg)
n.2247A>G
9g.104830958T>GCA374322784ABCA1c.1859A>C (p.Gln620Pro)
n.32A>C
c.1679A>C (p.Gln560Pro)
c.1934A>C (p.Gln645Pro)
c.1496A>C (p.Gln499Pro)
c.1796A>C (p.Gln599Pro)
n.2247A>C
9g.104830959G>ACA374322785ABCA1c.1858C>T (p.Gln620Ter)
n.31C>T
c.1678C>T (p.Gln560Ter)
c.1933C>T (p.Gln645Ter)
c.1495C>T (p.Gln499Ter)
c.1795C>T (p.Gln599Ter)
n.2246C>T
 gnomAD v4
9g.104830959G>CCA374322786ABCA1c.1858C>G (p.Gln620Glu)
n.31C>G
c.1678C>G (p.Gln560Glu)
c.1933C>G (p.Gln645Glu)
c.1495C>G (p.Gln499Glu)
c.1795C>G (p.Gln599Glu)
n.2246C>G
9g.104830959G>TCA374322787ABCA1c.1858C>A (p.Gln620Lys)
n.31C>A
c.1678C>A (p.Gln560Lys)
c.1933C>A (p.Gln645Lys)
c.1495C>A (p.Gln499Lys)
c.1795C>A (p.Gln599Lys)
n.2246C>A
9g.104830959_104830960delinsATCA2697557978ABCA1c.1857_1858delinsAT (p.Met619IlefsTer2)
n.30_31delinsAT
c.1677_1678delinsAT (p.Met559IlefsTer2)
c.1932_1933delinsAT (p.Met644IlefsTer2)
c.1494_1495delinsAT (p.Met498IlefsTer2)
c.1794_1795delinsAT (p.Met598IlefsTer2)
n.2245_2246delinsAT
 ClinVar
9g.104830959_104830960insACA645550832ABCA1c.1857_1858insT (p.Gln620SerfsTer10)
n.30_31insT
c.1677_1678insT (p.Gln560SerfsTer10)
c.1932_1933insT (p.Gln645SerfsTer10)
c.1494_1495insT (p.Gln499SerfsTer10)
c.1794_1795insT (p.Gln599SerfsTer10)
n.2245_2246insT
 COSMIC
9g.104830960C>ACA374322788ABCA1c.1857G>T (p.Met619Ile)
n.30G>T
c.1677G>T (p.Met559Ile)
c.1932G>T (p.Met644Ile)
c.1494G>T (p.Met498Ile)
c.1794G>T (p.Met598Ile)
n.2245G>T
9g.104830960C>GCA374322790ABCA1c.1857G>C (p.Met619Ile)
n.30G>C
c.1677G>C (p.Met559Ile)
c.1932G>C (p.Met644Ile)
c.1494G>C (p.Met498Ile)
c.1794G>C (p.Met598Ile)
n.2245G>C
9g.104830960C>TCA374322789ABCA1c.1857G>A (p.Met619Ile)
n.30G>A
c.1677G>A (p.Met559Ile)
c.1932G>A (p.Met644Ile)
c.1494G>A (p.Met498Ile)
c.1794G>A (p.Met598Ile)
n.2245G>A
 gnomAD v4
9g.104830961A>CCA374322791ABCA1c.1856T>G (p.Met619Arg)
n.29T>G
c.1676T>G (p.Met559Arg)
c.1931T>G (p.Met644Arg)
c.1493T>G (p.Met498Arg)
c.1793T>G (p.Met598Arg)
n.2244T>G
9g.104830961A>GCA374322792ABCA1c.1856T>C (p.Met619Thr)
n.29T>C
c.1676T>C (p.Met559Thr)
c.1931T>C (p.Met644Thr)
c.1493T>C (p.Met498Thr)
c.1793T>C (p.Met598Thr)
n.2244T>C
9g.104830961A>TCA374322793ABCA1c.1856T>A (p.Met619Lys)
n.29T>A
c.1676T>A (p.Met559Lys)
c.1931T>A (p.Met644Lys)
c.1493T>A (p.Met498Lys)
c.1793T>A (p.Met598Lys)
n.2244T>A
9g.104830962T>ACA374322794ABCA1c.1855A>T (p.Met619Leu)
n.28A>T
c.1675A>T (p.Met559Leu)
c.1930A>T (p.Met644Leu)
c.1492A>T (p.Met498Leu)
c.1792A>T (p.Met598Leu)
n.2243A>T
9g.104830962T>CCA374322795ABCA1c.1855A>G (p.Met619Val)
n.28A>G
c.1675A>G (p.Met559Val)
c.1930A>G (p.Met644Val)
c.1492A>G (p.Met498Val)
c.1792A>G (p.Met598Val)
n.2243A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104830962T>GCA374322796ABCA1c.1855A>C (p.Met619Leu)
n.28A>C
c.1675A>C (p.Met559Leu)
c.1930A>C (p.Met644Leu)
c.1492A>C (p.Met498Leu)
c.1792A>C (p.Met598Leu)
n.2243A>C
9g.104830962T=CA1869923808ABCA1c.1855A= (p.Met619=)
n.28A=
c.1675A= (p.Met559=)
c.1930A= (p.Met644=)
c.1492A= (p.Met498=)
c.1792A= (p.Met598=)
n.2243A=
9g.104830963A=CA1869923813ABCA1c.1854T= (p.Tyr618=)
n.27T=
c.1674T= (p.Tyr558=)
c.1929T= (p.Tyr643=)
c.1491T= (p.Tyr497=)
c.1791T= (p.Tyr597=)
n.2242T=
9g.104830963A>CCA374322797ABCA1c.1854T>G (p.Tyr618Ter)
n.27T>G
c.1674T>G (p.Tyr558Ter)
c.1929T>G (p.Tyr643Ter)
c.1491T>G (p.Tyr497Ter)
c.1791T>G (p.Tyr597Ter)
n.2242T>G
9g.104830963A>GCA466511931ABCA1c.1854T>C (p.Tyr618=)
n.27T>C
c.1674T>C (p.Tyr558=)
c.1929T>C (p.Tyr643=)
c.1491T>C (p.Tyr497=)
c.1791T>C (p.Tyr597=)
n.2242T>C
 dbSNP gnomAD v2 gnomAD v4
9g.104830963A>TCA374322798ABCA1c.1854T>A (p.Tyr618Ter)
n.27T>A
c.1674T>A (p.Tyr558Ter)
c.1929T>A (p.Tyr643Ter)
c.1491T>A (p.Tyr497Ter)
c.1791T>A (p.Tyr597Ter)
n.2242T>A
9g.104830964T>ACA5168893ABCA1c.1853A>T (p.Tyr618Phe)
n.26A>T
c.1673A>T (p.Tyr558Phe)
c.1928A>T (p.Tyr643Phe)
c.1490A>T (p.Tyr497Phe)
c.1790A>T (p.Tyr597Phe)
n.2241A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104830964T>CCA197396416ABCA1c.1853A>G (p.Tyr618Cys)
n.26A>G
c.1673A>G (p.Tyr558Cys)
c.1928A>G (p.Tyr643Cys)
c.1490A>G (p.Tyr497Cys)
c.1790A>G (p.Tyr597Cys)
n.2241A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104830964T>GCA374322799ABCA1c.1853A>C (p.Tyr618Ser)
n.26A>C
c.1673A>C (p.Tyr558Ser)
c.1928A>C (p.Tyr643Ser)
c.1490A>C (p.Tyr497Ser)
c.1790A>C (p.Tyr597Ser)
n.2241A>C
9g.104830964T=CA1869923826ABCA1c.1853A= (p.Tyr618=)
n.26A=
c.1673A= (p.Tyr558=)
c.1928A= (p.Tyr643=)
c.1490A= (p.Tyr497=)
c.1790A= (p.Tyr597=)
n.2241A=
9g.104830965A>CCA374322801ABCA1c.1852T>G (p.Tyr618Asp)
n.25T>G
c.1672T>G (p.Tyr558Asp)
c.1927T>G (p.Tyr643Asp)
c.1489T>G (p.Tyr497Asp)
c.1789T>G (p.Tyr597Asp)
n.2240T>G
9g.104830965A>GCA374322802ABCA1c.1852T>C (p.Tyr618His)
n.25T>C
c.1672T>C (p.Tyr558His)
c.1927T>C (p.Tyr643His)
c.1489T>C (p.Tyr497His)
c.1789T>C (p.Tyr597His)
n.2240T>C
 gnomAD v4
9g.104830965A>TCA374322800ABCA1c.1852T>A (p.Tyr618Asn)
n.25T>A
c.1672T>A (p.Tyr558Asn)
c.1927T>A (p.Tyr643Asn)
c.1489T>A (p.Tyr497Asn)
c.1789T>A (p.Tyr597Asn)
n.2240T>A
9g.104830966G>ACA466511932ABCA1c.1851C>T (p.Val617=)
n.24C>T
c.1671C>T (p.Val557=)
c.1926C>T (p.Val642=)
c.1488C>T (p.Val496=)
c.1788C>T (p.Val596=)
n.2239C>T
 dbSNP
9g.104830966G>CCA466511933ABCA1c.1851C>G (p.Val617=)
n.24C>G
c.1671C>G (p.Val557=)
c.1926C>G (p.Val642=)
c.1488C>G (p.Val496=)
c.1788C>G (p.Val596=)
n.2239C>G
9g.104830966G=CA1869923836ABCA1c.1851C= (p.Val617=)
n.24C=
c.1671C= (p.Val557=)
c.1926C= (p.Val642=)
c.1488C= (p.Val496=)
c.1788C= (p.Val596=)
n.2239C=
9g.104830966G>TCA466511934ABCA1c.1851C>A (p.Val617=)
n.24C>A
c.1671C>A (p.Val557=)
c.1926C>A (p.Val642=)
c.1488C>A (p.Val496=)
c.1788C>A (p.Val596=)
n.2239C>A
9g.104830967A=CA1869923842ABCA1c.1850T= (p.Val617=)
n.23T=
c.1670T= (p.Val557=)
c.1925T= (p.Val642=)
c.1487T= (p.Val496=)
c.1787T= (p.Val596=)
n.2238T=
9g.104830967A>CCA374322805ABCA1c.1850T>G (p.Val617Gly)
n.23T>G
c.1670T>G (p.Val557Gly)
c.1925T>G (p.Val642Gly)
c.1487T>G (p.Val496Gly)
c.1787T>G (p.Val596Gly)
n.2238T>G
9g.104830967A>GCA374322803ABCA1c.1850T>C (p.Val617Ala)
n.23T>C
c.1670T>C (p.Val557Ala)
c.1925T>C (p.Val642Ala)
c.1487T>C (p.Val496Ala)
c.1787T>C (p.Val596Ala)
n.2238T>C
 dbSNP gnomAD v3 gnomAD v4
9g.104830967A>TCA374322804ABCA1c.1850T>A (p.Val617Asp)
n.23T>A
c.1670T>A (p.Val557Asp)
c.1925T>A (p.Val642Asp)
c.1487T>A (p.Val496Asp)
c.1787T>A (p.Val596Asp)
n.2238T>A
9g.104830967_104830968delinsGACA2580079319ABCA1c.1849_1850delinsTC (p.Val617Ser)
n.22_23delinsTC
c.1669_1670delinsTC (p.Val557Ser)
c.1924_1925delinsTC (p.Val642Ser)
c.1486_1487delinsTC (p.Val496Ser)
c.1786_1787delinsTC (p.Val596Ser)
n.2237_2238delinsTC
 ClinVar dbSNP
9g.104830968C>ACA374322806ABCA1c.1849G>T (p.Val617Phe)
n.22G>T
c.1669G>T (p.Val557Phe)
c.1924G>T (p.Val642Phe)
c.1486G>T (p.Val496Phe)
c.1786G>T (p.Val596Phe)
n.2237G>T
 dbSNP gnomAD v3 gnomAD v4
9g.104830968C=CA1869923848ABCA1c.1849G= (p.Val617=)
n.22G=
c.1669G= (p.Val557=)
c.1924G= (p.Val642=)
c.1486G= (p.Val496=)
c.1786G= (p.Val596=)
n.2237G=
9g.104830968C>GCA374322807ABCA1c.1849G>C (p.Val617Leu)
n.22G>C
c.1669G>C (p.Val557Leu)
c.1924G>C (p.Val642Leu)
c.1486G>C (p.Val496Leu)
c.1786G>C (p.Val596Leu)
n.2237G>C
9g.104830968C>TCA374322808ABCA1c.1849G>A (p.Val617Ile)
n.22G>A
c.1669G>A (p.Val557Ile)
c.1924G>A (p.Val642Ile)
c.1486G>A (p.Val496Ile)
c.1786G>A (p.Val596Ile)
n.2237G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104830969A>CCA466511935ABCA1c.1848T>G (p.Gly616=)
n.21T>G
c.1668T>G (p.Gly556=)
c.1923T>G (p.Gly641=)
c.1485T>G (p.Gly495=)
c.1785T>G (p.Gly595=)
n.2236T>G
9g.104830969A>GCA466511936ABCA1c.1848T>C (p.Gly616=)
n.21T>C
c.1668T>C (p.Gly556=)
c.1923T>C (p.Gly641=)
c.1485T>C (p.Gly495=)
c.1785T>C (p.Gly595=)
n.2236T>C
9g.104830969A>TCA466511937ABCA1c.1848T>A (p.Gly616=)
n.21T>A
c.1668T>A (p.Gly556=)
c.1923T>A (p.Gly641=)
c.1485T>A (p.Gly495=)
c.1785T>A (p.Gly595=)
n.2236T>A
9g.104830970C>ACA5168894ABCA1c.1847G>T (p.Gly616Val)
n.20G>T
c.1667G>T (p.Gly556Val)
c.1922G>T (p.Gly641Val)
c.1484G>T (p.Gly495Val)
c.1784G>T (p.Gly595Val)
n.2235G>T
 dbSNP ExAC gnomAD v2
9g.104830970C=CA1869923864ABCA1c.1847G= (p.Gly616=)
n.20G=
c.1667G= (p.Gly556=)
c.1922G= (p.Gly641=)
c.1484G= (p.Gly495=)
c.1784G= (p.Gly595=)
n.2235G=

Number of alleles fetched