Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104830951C>ACA374322764ABCA1c.1866G>T (p.Met622Ile)
n.39G>T
c.1686G>T (p.Met562Ile)
c.1941G>T (p.Met647Ile)
c.1503G>T (p.Met501Ile)
c.1803G>T (p.Met601Ile)
n.2254G>T
9g.104830951C>GCA374322765ABCA1c.1866G>C (p.Met622Ile)
n.39G>C
c.1686G>C (p.Met562Ile)
c.1941G>C (p.Met647Ile)
c.1503G>C (p.Met501Ile)
c.1803G>C (p.Met601Ile)
n.2254G>C
9g.104830951C>TCA374322766ABCA1c.1866G>A (p.Met622Ile)
n.39G>A
c.1686G>A (p.Met562Ile)
c.1941G>A (p.Met647Ile)
c.1503G>A (p.Met501Ile)
c.1803G>A (p.Met601Ile)
n.2254G>A
 gnomAD v4
9g.104830952A>CCA374322767ABCA1c.1865T>G (p.Met622Arg)
n.38T>G
c.1685T>G (p.Met562Arg)
c.1940T>G (p.Met647Arg)
c.1502T>G (p.Met501Arg)
c.1802T>G (p.Met601Arg)
n.2253T>G
9g.104830952A>GCA374322768ABCA1c.1865T>C (p.Met622Thr)
n.38T>C
c.1685T>C (p.Met562Thr)
c.1940T>C (p.Met647Thr)
c.1502T>C (p.Met501Thr)
c.1802T>C (p.Met601Thr)
n.2253T>C
9g.104830952A>TCA374322769ABCA1c.1865T>A (p.Met622Lys)
n.38T>A
c.1685T>A (p.Met562Lys)
c.1940T>A (p.Met647Lys)
c.1502T>A (p.Met501Lys)
c.1802T>A (p.Met601Lys)
n.2253T>A
9g.104830953T>ACA374322770ABCA1c.1864A>T (p.Met622Leu)
n.37A>T
c.1684A>T (p.Met562Leu)
c.1939A>T (p.Met647Leu)
c.1501A>T (p.Met501Leu)
c.1801A>T (p.Met601Leu)
n.2252A>T
9g.104830953T>CCA374322771ABCA1c.1864A>G (p.Met622Val)
n.37A>G
c.1684A>G (p.Met562Val)
c.1939A>G (p.Met647Val)
c.1501A>G (p.Met501Val)
c.1801A>G (p.Met601Val)
n.2252A>G
 gnomAD v4
9g.104830953T>GCA374322772ABCA1c.1864A>C (p.Met622Leu)
n.37A>C
c.1684A>C (p.Met562Leu)
c.1939A>C (p.Met647Leu)
c.1501A>C (p.Met501Leu)
c.1801A>C (p.Met601Leu)
n.2252A>C
9g.104830954C>ACA374322773ABCA1c.1863G>T (p.Gln621His)
n.36G>T
c.1683G>T (p.Gln561His)
c.1938G>T (p.Gln646His)
c.1500G>T (p.Gln500His)
c.1800G>T (p.Gln600His)
n.2251G>T
9g.104830954C=CA1869923803ABCA1c.1863G= (p.Gln621=)
n.36G=
c.1683G= (p.Gln561=)
c.1938G= (p.Gln646=)
c.1500G= (p.Gln500=)
c.1800G= (p.Gln600=)
n.2251G=
9g.104830954C>GCA5168892ABCA1c.1863G>C (p.Gln621His)
n.36G>C
c.1683G>C (p.Gln561His)
c.1938G>C (p.Gln646His)
c.1500G>C (p.Gln500His)
c.1800G>C (p.Gln600His)
n.2251G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104830954C>TCA466511891ABCA1c.1863G>A (p.Gln621=)
n.36G>A
c.1683G>A (p.Gln561=)
c.1938G>A (p.Gln646=)
c.1500G>A (p.Gln500=)
c.1800G>A (p.Gln600=)
n.2251G>A
9g.104830955T>ACA374322774ABCA1c.1862A>T (p.Gln621Leu)
n.35A>T
c.1682A>T (p.Gln561Leu)
c.1937A>T (p.Gln646Leu)
c.1499A>T (p.Gln500Leu)
c.1799A>T (p.Gln600Leu)
n.2250A>T
9g.104830955T>CCA374322775ABCA1c.1862A>G (p.Gln621Arg)
n.35A>G
c.1682A>G (p.Gln561Arg)
c.1937A>G (p.Gln646Arg)
c.1499A>G (p.Gln500Arg)
c.1799A>G (p.Gln600Arg)
n.2250A>G
 gnomAD v4
9g.104830955T>GCA374322776ABCA1c.1862A>C (p.Gln621Pro)
n.35A>C
c.1682A>C (p.Gln561Pro)
c.1937A>C (p.Gln646Pro)
c.1499A>C (p.Gln500Pro)
c.1799A>C (p.Gln600Pro)
n.2250A>C
9g.104830956G>ACA374322777ABCA1c.1861C>T (p.Gln621Ter)
n.34C>T
c.1681C>T (p.Gln561Ter)
c.1936C>T (p.Gln646Ter)
c.1498C>T (p.Gln500Ter)
c.1798C>T (p.Gln600Ter)
n.2249C>T
9g.104830956G>CCA374322778ABCA1c.1861C>G (p.Gln621Glu)
n.34C>G
c.1681C>G (p.Gln561Glu)
c.1936C>G (p.Gln646Glu)
c.1498C>G (p.Gln500Glu)
c.1798C>G (p.Gln600Glu)
n.2249C>G
9g.104830956G>TCA374322779ABCA1c.1861C>A (p.Gln621Lys)
n.34C>A
c.1681C>A (p.Gln561Lys)
c.1936C>A (p.Gln646Lys)
c.1498C>A (p.Gln500Lys)
c.1798C>A (p.Gln600Lys)
n.2249C>A
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

Number of alleles fetched