Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.104828918T>ACA374322017ABCA1c.2113A>T (p.Lys705Ter)
n.286A>T
c.1933A>T (p.Lys645Ter)
c.2188A>T (p.Lys730Ter)
c.1750A>T (p.Lys584Ter)
c.2050A>T (p.Lys684Ter)
n.2501A>T
9g.104828918T>CCA374322018ABCA1c.2113A>G (p.Lys705Glu)
n.286A>G
c.1933A>G (p.Lys645Glu)
c.2188A>G (p.Lys730Glu)
c.1750A>G (p.Lys584Glu)
c.2050A>G (p.Lys684Glu)
n.2501A>G
9g.104828918T>GCA374322019ABCA1c.2113A>C (p.Lys705Gln)
n.286A>C
c.1933A>C (p.Lys645Gln)
c.2188A>C (p.Lys730Gln)
c.1750A>C (p.Lys584Gln)
c.2050A>C (p.Lys684Gln)
n.2501A>C
9g.104828919C>ACA466509960ABCA1c.2112G>T (p.Leu704=)
n.285G>T
c.1932G>T (p.Leu644=)
c.2187G>T (p.Leu729=)
c.1749G>T (p.Leu583=)
c.2049G>T (p.Leu683=)
n.2500G>T
9g.104828919C>GCA466509962ABCA1c.2112G>C (p.Leu704=)
n.285G>C
c.1932G>C (p.Leu644=)
c.2187G>C (p.Leu729=)
c.1749G>C (p.Leu583=)
c.2049G>C (p.Leu683=)
n.2500G>C
9g.104828919C>TCA466509963ABCA1c.2112G>A (p.Leu704=)
n.285G>A
c.1932G>A (p.Leu644=)
c.2187G>A (p.Leu729=)
c.1749G>A (p.Leu583=)
c.2049G>A (p.Leu683=)
n.2500G>A
9g.104828920A>CCA374322020ABCA1c.2111T>G (p.Leu704Arg)
n.284T>G
c.1931T>G (p.Leu644Arg)
c.2186T>G (p.Leu729Arg)
c.1748T>G (p.Leu583Arg)
c.2048T>G (p.Leu683Arg)
n.2499T>G
9g.104828920A>GCA374322021ABCA1c.2111T>C (p.Leu704Pro)
n.284T>C
c.1931T>C (p.Leu644Pro)
c.2186T>C (p.Leu729Pro)
c.1748T>C (p.Leu583Pro)
c.2048T>C (p.Leu683Pro)
n.2499T>C
9g.104828920A>TCA374322022ABCA1c.2111T>A (p.Leu704Gln)
n.284T>A
c.1931T>A (p.Leu644Gln)
c.2186T>A (p.Leu729Gln)
c.1748T>A (p.Leu583Gln)
c.2048T>A (p.Leu683Gln)
n.2499T>A
9g.104828921G>ACA466509973ABCA1c.2110C>T (p.Leu704=)
n.283C>T
c.1930C>T (p.Leu644=)
c.2185C>T (p.Leu729=)
c.1747C>T (p.Leu583=)
c.2047C>T (p.Leu683=)
n.2498C>T
9g.104828921G>CCA374322023ABCA1c.2110C>G (p.Leu704Val)
n.283C>G
c.1930C>G (p.Leu644Val)
c.2185C>G (p.Leu729Val)
c.1747C>G (p.Leu583Val)
c.2047C>G (p.Leu683Val)
n.2498C>G
9g.104828921G>TCA374322024ABCA1c.2110C>A (p.Leu704Met)
n.283C>A
c.1930C>A (p.Leu644Met)
c.2185C>A (p.Leu729Met)
c.1747C>A (p.Leu583Met)
c.2047C>A (p.Leu683Met)
n.2498C>A
9g.104828922G>ACA466509978ABCA1c.2109C>T (p.Ile703=)
n.282C>T
c.1929C>T (p.Ile643=)
c.2184C>T (p.Ile728=)
c.1746C>T (p.Ile582=)
c.2046C>T (p.Ile682=)
n.2497C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104828922G>CCA5168823ABCA1c.2109C>G (p.Ile703Met)
n.282C>G
c.1929C>G (p.Ile643Met)
c.2184C>G (p.Ile728Met)
c.1746C>G (p.Ile582Met)
c.2046C>G (p.Ile682Met)
n.2497C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828922G=CA1869919962ABCA1c.2109C= (p.Ile703=)
n.282C=
c.1929C= (p.Ile643=)
c.2184C= (p.Ile728=)
c.1746C= (p.Ile582=)
c.2046C= (p.Ile682=)
n.2497C=
9g.104828922G>TCA466509981ABCA1c.2109C>A (p.Ile703=)
n.282C>A
c.1929C>A (p.Ile643=)
c.2184C>A (p.Ile728=)
c.1746C>A (p.Ile582=)
c.2046C>A (p.Ile682=)
n.2497C>A
 gnomAD v4
9g.104828923A>CCA374322025ABCA1c.2108T>G (p.Ile703Ser)
n.281T>G
c.1928T>G (p.Ile643Ser)
c.2183T>G (p.Ile728Ser)
c.1745T>G (p.Ile582Ser)
c.2045T>G (p.Ile682Ser)
n.2496T>G
9g.104828923A>GCA374322027ABCA1c.2108T>C (p.Ile703Thr)
n.281T>C
c.1928T>C (p.Ile643Thr)
c.2183T>C (p.Ile728Thr)
c.1745T>C (p.Ile582Thr)
c.2045T>C (p.Ile682Thr)
n.2496T>C
9g.104828923A>TCA374322026ABCA1c.2108T>A (p.Ile703Asn)
n.281T>A
c.1928T>A (p.Ile643Asn)
c.2183T>A (p.Ile728Asn)
c.1745T>A (p.Ile582Asn)
c.2045T>A (p.Ile682Asn)
n.2496T>A
9g.104828924T>ACA374322028ABCA1c.2107A>T (p.Ile703Phe)
n.280A>T
c.1927A>T (p.Ile643Phe)
c.2182A>T (p.Ile728Phe)
c.1744A>T (p.Ile582Phe)
c.2044A>T (p.Ile682Phe)
n.2495A>T
9g.104828924T>CCA374322029ABCA1c.2107A>G (p.Ile703Val)
n.280A>G
c.1927A>G (p.Ile643Val)
c.2182A>G (p.Ile728Val)
c.1744A>G (p.Ile582Val)
c.2044A>G (p.Ile682Val)
n.2495A>G
9g.104828924T>GCA374322030ABCA1c.2107A>C (p.Ile703Leu)
n.280A>C
c.1927A>C (p.Ile643Leu)
c.2182A>C (p.Ile728Leu)
c.1744A>C (p.Ile582Leu)
c.2044A>C (p.Ile682Leu)
n.2495A>C
9g.104828925G>ACA466509995ABCA1c.2106C>T (p.Val702=)
n.279C>T
c.1926C>T (p.Val642=)
c.2181C>T (p.Val727=)
c.1743C>T (p.Val581=)
c.2043C>T (p.Val681=)
n.2494C>T
 gnomAD v4
9g.104828925G>CCA466509993ABCA1c.2106C>G (p.Val702=)
n.279C>G
c.1926C>G (p.Val642=)
c.2181C>G (p.Val727=)
c.1743C>G (p.Val581=)
c.2043C>G (p.Val681=)
n.2494C>G
9g.104828925G>TCA466509991ABCA1c.2106C>A (p.Val702=)
n.279C>A
c.1926C>A (p.Val642=)
c.2181C>A (p.Val727=)
c.1743C>A (p.Val581=)
c.2043C>A (p.Val681=)
n.2494C>A
 gnomAD v4
9g.104828926A=CA1869919964ABCA1c.2105T= (p.Val702=)
n.278T=
c.1925T= (p.Val642=)
c.2180T= (p.Val727=)
c.1742T= (p.Val581=)
c.2042T= (p.Val681=)
n.2493T=
9g.104828926A>CCA374322031ABCA1c.2105T>G (p.Val702Gly)
n.278T>G
c.1925T>G (p.Val642Gly)
c.2180T>G (p.Val727Gly)
c.1742T>G (p.Val581Gly)
c.2042T>G (p.Val681Gly)
n.2493T>G
9g.104828926A>GCA5168824ABCA1c.2105T>C (p.Val702Ala)
n.278T>C
c.1925T>C (p.Val642Ala)
c.2180T>C (p.Val727Ala)
c.1742T>C (p.Val581Ala)
c.2042T>C (p.Val681Ala)
n.2493T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104828926A>TCA374322032ABCA1c.2105T>A (p.Val702Asp)
n.278T>A
c.1925T>A (p.Val642Asp)
c.2180T>A (p.Val727Asp)
c.1742T>A (p.Val581Asp)
c.2042T>A (p.Val681Asp)
n.2493T>A
9g.104828927C>ACA374322033ABCA1c.2104G>T (p.Val702Phe)
n.277G>T
c.1924G>T (p.Val642Phe)
c.2179G>T (p.Val727Phe)
c.1741G>T (p.Val581Phe)
c.2041G>T (p.Val681Phe)
n.2492G>T
9g.104828927C>GCA374322034ABCA1c.2104G>C (p.Val702Leu)
n.277G>C
c.1924G>C (p.Val642Leu)
c.2179G>C (p.Val727Leu)
c.1741G>C (p.Val581Leu)
c.2041G>C (p.Val681Leu)
n.2492G>C
9g.104828927C>TCA374322035ABCA1c.2104G>A (p.Val702Ile)
n.277G>A
c.1924G>A (p.Val642Ile)
c.2179G>A (p.Val727Ile)
c.1741G>A (p.Val581Ile)
c.2041G>A (p.Val681Ile)
n.2492G>A
9g.104828928C>ACA5168825ABCA1c.2103G>T (p.Val701=)
n.276G>T
c.1923G>T (p.Val641=)
c.2178G>T (p.Val726=)
c.1740G>T (p.Val580=)
c.2040G>T (p.Val680=)
n.2491G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104828928C=CA1869919967ABCA1c.2103G= (p.Val701=)
n.276G=
c.1923G= (p.Val641=)
c.2178G= (p.Val726=)
c.1740G= (p.Val580=)
c.2040G= (p.Val680=)
n.2491G=
9g.104828928C>GCA466510003ABCA1c.2103G>C (p.Val701=)
n.276G>C
c.1923G>C (p.Val641=)
c.2178G>C (p.Val726=)
c.1740G>C (p.Val580=)
c.2040G>C (p.Val680=)
n.2491G>C
9g.104828928C>TCA466510006ABCA1c.2103G>A (p.Val701=)
n.276G>A
c.1923G>A (p.Val641=)
c.2178G>A (p.Val726=)
c.1740G>A (p.Val580=)
c.2040G>A (p.Val680=)
n.2491G>A
9g.104828929A>CCA374322037ABCA1c.2102T>G (p.Val701Gly)
n.275T>G
c.1922T>G (p.Val641Gly)
c.2177T>G (p.Val726Gly)
c.1739T>G (p.Val580Gly)
c.2039T>G (p.Val680Gly)
n.2490T>G
9g.104828929A>GCA374322038ABCA1c.2102T>C (p.Val701Ala)
n.275T>C
c.1922T>C (p.Val641Ala)
c.2177T>C (p.Val726Ala)
c.1739T>C (p.Val580Ala)
c.2039T>C (p.Val680Ala)
n.2490T>C
9g.104828929A>TCA374322036ABCA1c.2102T>A (p.Val701Glu)
n.275T>A
c.1922T>A (p.Val641Glu)
c.2177T>A (p.Val726Glu)
c.1739T>A (p.Val580Glu)
c.2039T>A (p.Val680Glu)
n.2490T>A
9g.104828930C>ACA374322039ABCA1c.2101G>T (p.Val701Leu)
n.274G>T
c.1921G>T (p.Val641Leu)
c.2176G>T (p.Val726Leu)
c.1738G>T (p.Val580Leu)
c.2038G>T (p.Val680Leu)
n.2489G>T
9g.104828930C=CA1869919974ABCA1c.2101G= (p.Val701=)
n.274G=
c.1921G= (p.Val641=)
c.2176G= (p.Val726=)
c.1738G= (p.Val580=)
c.2038G= (p.Val680=)
n.2489G=
9g.104828930C>GCA197394919ABCA1c.2101G>C (p.Val701Leu)
n.274G>C
c.1921G>C (p.Val641Leu)
c.2176G>C (p.Val726Leu)
c.1738G>C (p.Val580Leu)
c.2038G>C (p.Val680Leu)
n.2489G>C
 dbSNP
9g.104828930C>TCA374322040ABCA1c.2101G>A (p.Val701Met)
n.274G>A
c.1921G>A (p.Val641Met)
c.2176G>A (p.Val726Met)
c.1738G>A (p.Val580Met)
c.2038G>A (p.Val680Met)
n.2489G>A
9g.104828931T>ACA5168826ABCA1c.2100A>T (p.Leu700=)
n.273A>T
c.1920A>T (p.Leu640=)
c.2175A>T (p.Leu725=)
c.1737A>T (p.Leu579=)
c.2037A>T (p.Leu679=)
n.2488A>T
 dbSNP ExAC
9g.104828931T>CCA466510018ABCA1c.2100A>G (p.Leu700=)
n.273A>G
c.1920A>G (p.Leu640=)
c.2175A>G (p.Leu725=)
c.1737A>G (p.Leu579=)
c.2037A>G (p.Leu679=)
n.2488A>G
 dbSNP
9g.104828931T>GCA466510016ABCA1c.2100A>C (p.Leu700=)
n.273A>C
c.1920A>C (p.Leu640=)
c.2175A>C (p.Leu725=)
c.1737A>C (p.Leu579=)
c.2037A>C (p.Leu679=)
n.2488A>C
9g.104828931T=CA1869919980ABCA1c.2100A= (p.Leu700=)
n.273A=
c.1920A= (p.Leu640=)
c.2175A= (p.Leu725=)
c.1737A= (p.Leu579=)
c.2037A= (p.Leu679=)
n.2488A=
9g.104828932delCA2579406925ABCA1c.2099del (p.Leu700GlnfsTer5)
n.272del
c.1919del (p.Leu640GlnfsTer5)
c.2174del (p.Leu725GlnfsTer5)
c.1736del (p.Leu579GlnfsTer5)
c.2036del (p.Leu679GlnfsTer5)
n.2487del
9g.104828932A>CCA374322041ABCA1c.2099T>G (p.Leu700Arg)
n.272T>G
c.1919T>G (p.Leu640Arg)
c.2174T>G (p.Leu725Arg)
c.1736T>G (p.Leu579Arg)
c.2036T>G (p.Leu679Arg)
n.2487T>G
9g.104828932A>GCA374322042ABCA1c.2099T>C (p.Leu700Pro)
n.272T>C
c.1919T>C (p.Leu640Pro)
c.2174T>C (p.Leu725Pro)
c.1736T>C (p.Leu579Pro)
c.2036T>C (p.Leu679Pro)
n.2487T>C
9g.104828932A>TCA374322043ABCA1c.2099T>A (p.Leu700Gln)
n.272T>A
c.1919T>A (p.Leu640Gln)
c.2174T>A (p.Leu725Gln)
c.1736T>A (p.Leu579Gln)
c.2036T>A (p.Leu679Gln)
n.2487T>A
9g.104828933G>ACA466510023ABCA1c.2098C>T (p.Leu700=)
n.271C>T
c.1918C>T (p.Leu640=)
c.2173C>T (p.Leu725=)
c.1735C>T (p.Leu579=)
c.2035C>T (p.Leu679=)
n.2486C>T
 ClinVar gnomAD v4
9g.104828933G>CCA374322044ABCA1c.2098C>G (p.Leu700Val)
n.271C>G
c.1918C>G (p.Leu640Val)
c.2173C>G (p.Leu725Val)
c.1735C>G (p.Leu579Val)
c.2035C>G (p.Leu679Val)
n.2486C>G
9g.104828933G>TCA374322045ABCA1c.2098C>A (p.Leu700Ile)
n.271C>A
c.1918C>A (p.Leu640Ile)
c.2173C>A (p.Leu725Ile)
c.1735C>A (p.Leu579Ile)
c.2035C>A (p.Leu679Ile)
n.2486C>A
9g.104828934C>ACA466510027ABCA1c.2097G>T (p.Leu699=)
n.270G>T
c.1917G>T (p.Leu639=)
c.2172G>T (p.Leu724=)
c.1734G>T (p.Leu578=)
c.2034G>T (p.Leu678=)
n.2485G>T
9g.104828934C>GCA466510029ABCA1c.2097G>C (p.Leu699=)
n.270G>C
c.1917G>C (p.Leu639=)
c.2172G>C (p.Leu724=)
c.1734G>C (p.Leu578=)
c.2034G>C (p.Leu678=)
n.2485G>C
9g.104828934C>TCA466510032ABCA1c.2097G>A (p.Leu699=)
n.270G>A
c.1917G>A (p.Leu639=)
c.2172G>A (p.Leu724=)
c.1734G>A (p.Leu578=)
c.2034G>A (p.Leu678=)
n.2485G>A
 gnomAD v4
9g.104828935A>CCA374322046ABCA1c.2096T>G (p.Leu699Arg)
n.269T>G
c.1916T>G (p.Leu639Arg)
c.2171T>G (p.Leu724Arg)
c.1733T>G (p.Leu578Arg)
c.2033T>G (p.Leu678Arg)
n.2484T>G
9g.104828935A>GCA374322047ABCA1c.2096T>C (p.Leu699Pro)
n.269T>C
c.1916T>C (p.Leu639Pro)
c.2171T>C (p.Leu724Pro)
c.1733T>C (p.Leu578Pro)
c.2033T>C (p.Leu678Pro)
n.2484T>C
9g.104828935A>TCA374322048ABCA1c.2096T>A (p.Leu699Gln)
n.269T>A
c.1916T>A (p.Leu639Gln)
c.2171T>A (p.Leu724Gln)
c.1733T>A (p.Leu578Gln)
c.2033T>A (p.Leu678Gln)
n.2484T>A
9g.104828936G>ACA466510038ABCA1c.2095C>T (p.Leu699=)
n.268C>T
c.1915C>T (p.Leu639=)
c.2170C>T (p.Leu724=)
c.1732C>T (p.Leu578=)
c.2032C>T (p.Leu678=)
n.2483C>T
 gnomAD v4
9g.104828936G>CCA374322049ABCA1c.2095C>G (p.Leu699Val)
n.268C>G
c.1915C>G (p.Leu639Val)
c.2170C>G (p.Leu724Val)
c.1732C>G (p.Leu578Val)
c.2032C>G (p.Leu678Val)
n.2483C>G
9g.104828936G>TCA374322050ABCA1c.2095C>A (p.Leu699Met)
n.268C>A
c.1915C>A (p.Leu639Met)
c.2170C>A (p.Leu724Met)
c.1732C>A (p.Leu578Met)
c.2032C>A (p.Leu678Met)
n.2483C>A
9g.104828937G>ACA466510043ABCA1c.2094C>T (p.Gly698=)
n.267C>T
c.1914C>T (p.Gly638=)
c.2169C>T (p.Gly723=)
c.1731C>T (p.Gly577=)
c.2031C>T (p.Gly677=)
n.2482C>T
9g.104828937G>CCA5168827ABCA1c.2094C>G (p.Gly698=)
n.267C>G
c.1914C>G (p.Gly638=)
c.2169C>G (p.Gly723=)
c.1731C>G (p.Gly577=)
c.2031C>G (p.Gly677=)
n.2482C>G
 dbSNP ExAC
9g.104828937G=CA1869919989ABCA1c.2094C= (p.Gly698=)
n.267C=
c.1914C= (p.Gly638=)
c.2169C= (p.Gly723=)
c.1731C= (p.Gly577=)
c.2031C= (p.Gly677=)
n.2482C=
9g.104828937G>TCA466510047ABCA1c.2094C>A (p.Gly698=)
n.267C>A
c.1914C>A (p.Gly638=)
c.2169C>A (p.Gly723=)
c.1731C>A (p.Gly577=)
c.2031C>A (p.Gly677=)
n.2482C>A
 gnomAD v4
9g.104828938C>ACA374322051ABCA1c.2093G>T (p.Gly698Val)
n.266G>T
c.1913G>T (p.Gly638Val)
c.2168G>T (p.Gly723Val)
c.1730G>T (p.Gly577Val)
c.2030G>T (p.Gly677Val)
n.2481G>T
 dbSNP gnomAD v2 gnomAD v4
9g.104828938C=CA1869919994ABCA1c.2093G= (p.Gly698=)
n.266G=
c.1913G= (p.Gly638=)
c.2168G= (p.Gly723=)
c.1730G= (p.Gly577=)
c.2030G= (p.Gly677=)
n.2481G=
9g.104828938C>GCA374322052ABCA1c.2093G>C (p.Gly698Ala)
n.266G>C
c.1913G>C (p.Gly638Ala)
c.2168G>C (p.Gly723Ala)
c.1730G>C (p.Gly577Ala)
c.2030G>C (p.Gly677Ala)
n.2481G>C
 gnomAD v4
9g.104828938C>TCA374322053ABCA1c.2093G>A (p.Gly698Asp)
n.266G>A
c.1913G>A (p.Gly638Asp)
c.2168G>A (p.Gly723Asp)
c.1730G>A (p.Gly577Asp)
c.2030G>A (p.Gly677Asp)
n.2481G>A
9g.104828939C>ACA374322054ABCA1c.2092G>T (p.Gly698Cys)
n.265G>T
c.1912G>T (p.Gly638Cys)
c.2167G>T (p.Gly723Cys)
c.1729G>T (p.Gly577Cys)
c.2029G>T (p.Gly677Cys)
n.2480G>T
9g.104828939C>GCA374322055ABCA1c.2092G>C (p.Gly698Arg)
n.265G>C
c.1912G>C (p.Gly638Arg)
c.2167G>C (p.Gly723Arg)
c.1729G>C (p.Gly577Arg)
c.2029G>C (p.Gly677Arg)
n.2480G>C
9g.104828939C>TCA374322056ABCA1c.2092G>A (p.Gly698Ser)
n.265G>A
c.1912G>A (p.Gly638Ser)
c.2167G>A (p.Gly723Ser)
c.1729G>A (p.Gly577Ser)
c.2029G>A (p.Gly677Ser)
n.2480G>A
9g.104828940A>CCA466510060ABCA1c.2091T>G (p.Ala697=)
n.264T>G
c.1911T>G (p.Ala637=)
c.2166T>G (p.Ala722=)
c.1728T>G (p.Ala576=)
c.2028T>G (p.Ala676=)
n.2479T>G
9g.104828940A>GCA466510062ABCA1c.2091T>C (p.Ala697=)
n.264T>C
c.1911T>C (p.Ala637=)
c.2166T>C (p.Ala722=)
c.1728T>C (p.Ala576=)
c.2028T>C (p.Ala676=)
n.2479T>C
9g.104828940A>TCA466510058ABCA1c.2091T>A (p.Ala697=)
n.264T>A
c.1911T>A (p.Ala637=)
c.2166T>A (p.Ala722=)
c.1728T>A (p.Ala576=)
c.2028T>A (p.Ala676=)
n.2479T>A
9g.104828941G>ACA5168828ABCA1c.2090C>T (p.Ala697Val)
n.263C>T
c.1910C>T (p.Ala637Val)
c.2165C>T (p.Ala722Val)
c.1727C>T (p.Ala576Val)
c.2027C>T (p.Ala676Val)
n.2478C>T
 dbSNP ExAC gnomAD v4
9g.104828941G>CCA374322057ABCA1c.2090C>G (p.Ala697Gly)
n.263C>G
c.1910C>G (p.Ala637Gly)
c.2165C>G (p.Ala722Gly)
c.1727C>G (p.Ala576Gly)
c.2027C>G (p.Ala676Gly)
n.2478C>G
9g.104828941G=CA1869920000ABCA1c.2090C= (p.Ala697=)
n.263C=
c.1910C= (p.Ala637=)
c.2165C= (p.Ala722=)
c.1727C= (p.Ala576=)
c.2027C= (p.Ala676=)
n.2478C=
9g.104828941G>TCA374322058ABCA1c.2090C>A (p.Ala697Asp)
n.263C>A
c.1910C>A (p.Ala637Asp)
c.2165C>A (p.Ala722Asp)
c.1727C>A (p.Ala576Asp)
c.2027C>A (p.Ala676Asp)
n.2478C>A
9g.104828942C>ACA374322059ABCA1c.2089G>T (p.Ala697Ser)
n.262G>T
c.1909G>T (p.Ala637Ser)
c.2164G>T (p.Ala722Ser)
c.1726G>T (p.Ala576Ser)
c.2026G>T (p.Ala676Ser)
n.2477G>T
 dbSNP gnomAD v4
9g.104828942C=CA1869920010ABCA1c.2089G= (p.Ala697=)
n.262G=
c.1909G= (p.Ala637=)
c.2164G= (p.Ala722=)
c.1726G= (p.Ala576=)
c.2026G= (p.Ala676=)
n.2477G=
9g.104828942C>GCA374322060ABCA1c.2089G>C (p.Ala697Pro)
n.262G>C
c.1909G>C (p.Ala637Pro)
c.2164G>C (p.Ala722Pro)
c.1726G>C (p.Ala576Pro)
c.2026G>C (p.Ala676Pro)
n.2477G>C
9g.104828942C>TCA5168829ABCA1c.2089G>A (p.Ala697Thr)
n.262G>A
c.1909G>A (p.Ala637Thr)
c.2164G>A (p.Ala722Thr)
c.1726G>A (p.Ala576Thr)
c.2026G>A (p.Ala676Thr)
n.2477G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828943G>ACA5168830ABCA1c.2088C>T (p.Ser696=)
n.261C>T
c.1908C>T (p.Ser636=)
c.2163C>T (p.Ser721=)
c.1725C>T (p.Ser575=)
c.2025C>T (p.Ser675=)
n.2476C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828943G>CCA374322061ABCA1c.2088C>G (p.Ser696Arg)
n.261C>G
c.1908C>G (p.Ser636Arg)
c.2163C>G (p.Ser721Arg)
c.1725C>G (p.Ser575Arg)
c.2025C>G (p.Ser675Arg)
n.2476C>G
9g.104828943G=CA1869920016ABCA1c.2088C= (p.Ser696=)
n.261C=
c.1908C= (p.Ser636=)
c.2163C= (p.Ser721=)
c.1725C= (p.Ser575=)
c.2025C= (p.Ser675=)
n.2476C=
9g.104828943G>TCA374322062ABCA1c.2088C>A (p.Ser696Arg)
n.261C>A
c.1908C>A (p.Ser636Arg)
c.2163C>A (p.Ser721Arg)
c.1725C>A (p.Ser575Arg)
c.2025C>A (p.Ser675Arg)
n.2476C>A
9g.104828944C>ACA374322064ABCA1c.2087G>T (p.Ser696Ile)
n.260G>T
c.1907G>T (p.Ser636Ile)
c.2162G>T (p.Ser721Ile)
c.1724G>T (p.Ser575Ile)
c.2024G>T (p.Ser675Ile)
n.2475G>T
9g.104828944C>GCA374322065ABCA1c.2087G>C (p.Ser696Thr)
n.260G>C
c.1907G>C (p.Ser636Thr)
c.2162G>C (p.Ser721Thr)
c.1724G>C (p.Ser575Thr)
c.2024G>C (p.Ser675Thr)
n.2475G>C
9g.104828944C>TCA374322063ABCA1c.2087G>A (p.Ser696Asn)
n.260G>A
c.1907G>A (p.Ser636Asn)
c.2162G>A (p.Ser721Asn)
c.1724G>A (p.Ser575Asn)
c.2024G>A (p.Ser675Asn)
n.2475G>A
 gnomAD v4
9g.104828945T>ACA374322066ABCA1c.2086A>T (p.Ser696Cys)
n.259A>T
c.1906A>T (p.Ser636Cys)
c.2161A>T (p.Ser721Cys)
c.1723A>T (p.Ser575Cys)
c.2023A>T (p.Ser675Cys)
n.2474A>T
9g.104828945T>CCA374322067ABCA1c.2086A>G (p.Ser696Gly)
n.259A>G
c.1906A>G (p.Ser636Gly)
c.2161A>G (p.Ser721Gly)
c.1723A>G (p.Ser575Gly)
c.2023A>G (p.Ser675Gly)
n.2474A>G
9g.104828945T>GCA374322068ABCA1c.2086A>C (p.Ser696Arg)
n.259A>C
c.1906A>C (p.Ser636Arg)
c.2161A>C (p.Ser721Arg)
c.1723A>C (p.Ser575Arg)
c.2023A>C (p.Ser675Arg)
n.2474A>C
9g.104828946C>ACA466510086ABCA1c.2085G>T (p.Val695=)
n.258G>T
c.1905G>T (p.Val635=)
c.2160G>T (p.Val720=)
c.1722G>T (p.Val574=)
c.2022G>T (p.Val674=)
n.2473G>T
9g.104828946C=CA1869920023ABCA1c.2085G= (p.Val695=)
n.258G=
c.1905G= (p.Val635=)
c.2160G= (p.Val720=)
c.1722G= (p.Val574=)
c.2022G= (p.Val674=)
n.2473G=
9g.104828946C>GCA466510088ABCA1c.2085G>C (p.Val695=)
n.258G>C
c.1905G>C (p.Val635=)
c.2160G>C (p.Val720=)
c.1722G>C (p.Val574=)
c.2022G>C (p.Val674=)
n.2473G>C
9g.104828946C>TCA466510094ABCA1c.2085G>A (p.Val695=)
n.258G>A
c.1905G>A (p.Val635=)
c.2160G>A (p.Val720=)
c.1722G>A (p.Val574=)
c.2022G>A (p.Val674=)
n.2473G>A
 dbSNP gnomAD v4
9g.104828947A>CCA374322069ABCA1c.2084T>G (p.Val695Gly)
n.257T>G
c.1904T>G (p.Val635Gly)
c.2159T>G (p.Val720Gly)
c.1721T>G (p.Val574Gly)
c.2021T>G (p.Val674Gly)
n.2472T>G
9g.104828947A>GCA374322070ABCA1c.2084T>C (p.Val695Ala)
n.257T>C
c.1904T>C (p.Val635Ala)
c.2159T>C (p.Val720Ala)
c.1721T>C (p.Val574Ala)
c.2021T>C (p.Val674Ala)
n.2472T>C
9g.104828947A>TCA374322071ABCA1c.2084T>A (p.Val695Glu)
n.257T>A
c.1904T>A (p.Val635Glu)
c.2159T>A (p.Val720Glu)
c.1721T>A (p.Val574Glu)
c.2021T>A (p.Val674Glu)
n.2472T>A
9g.104828948C>ACA5168831ABCA1c.2083G>T (p.Val695Leu)
n.256G>T
c.1903G>T (p.Val635Leu)
c.2158G>T (p.Val720Leu)
c.1720G>T (p.Val574Leu)
c.2020G>T (p.Val674Leu)
n.2471G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104828948C=CA1869920031ABCA1c.2083G= (p.Val695=)
n.256G=
c.1903G= (p.Val635=)
c.2158G= (p.Val720=)
c.1720G= (p.Val574=)
c.2020G= (p.Val674=)
n.2471G=
9g.104828948C>GCA374322073ABCA1c.2083G>C (p.Val695Leu)
n.256G>C
c.1903G>C (p.Val635Leu)
c.2158G>C (p.Val720Leu)
c.1720G>C (p.Val574Leu)
c.2020G>C (p.Val674Leu)
n.2471G>C
9g.104828948C>TCA374322072ABCA1c.2083G>A (p.Val695Met)
n.256G>A
c.1903G>A (p.Val635Met)
c.2158G>A (p.Val720Met)
c.1720G>A (p.Val574Met)
c.2020G>A (p.Val674Met)
n.2471G>A
 dbSNP
9g.104828948_104828951delinsCAAGCA1869920028ABCA1c.2080_2083delinsCTTG (p.Leu694=)
n.253_256delinsCTTG
c.1900_1903delinsCTTG (p.Leu634=)
c.2155_2158delinsCTTG (p.Leu719=)
c.1717_1720delinsCTTG (p.Leu573=)
c.2017_2020delinsCTTG (p.Leu673=)
n.2468_2471delinsCTTG
9g.104828949A=CA1869920037ABCA1c.2082T= (p.Leu694=)
n.255T=
c.1902T= (p.Leu634=)
c.2157T= (p.Leu719=)
c.1719T= (p.Leu573=)
c.2019T= (p.Leu673=)
n.2470T=
9g.104828949A>CCA466510103ABCA1c.2082T>G (p.Leu694=)
n.255T>G
c.1902T>G (p.Leu634=)
c.2157T>G (p.Leu719=)
c.1719T>G (p.Leu573=)
c.2019T>G (p.Leu673=)
n.2470T>G
9g.104828949A>GCA466510105ABCA1c.2082T>C (p.Leu694=)
n.255T>C
c.1902T>C (p.Leu634=)
c.2157T>C (p.Leu719=)
c.1719T>C (p.Leu573=)
c.2019T>C (p.Leu673=)
n.2470T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104828949A>TCA466510107ABCA1c.2082T>A (p.Leu694=)
n.255T>A
c.1902T>A (p.Leu634=)
c.2157T>A (p.Leu719=)
c.1719T>A (p.Leu573=)
c.2019T>A (p.Leu673=)
n.2470T>A
9g.104828953_104828955delCA120479ABCA1c.2080_2082del (p.Leu694del)
n.253_255del
c.1900_1902del (p.Leu634del)
c.2155_2157del (p.Leu719del)
c.1717_1719del (p.Leu573del)
c.2017_2019del (p.Leu673del)
n.2468_2470del
 ClinVar dbSNP
9g.104828950A>CCA374322074ABCA1c.2081T>G (p.Leu694Arg)
n.254T>G
c.1901T>G (p.Leu634Arg)
c.2156T>G (p.Leu719Arg)
c.1718T>G (p.Leu573Arg)
c.2018T>G (p.Leu673Arg)
n.2469T>G
9g.104828950A>GCA374322075ABCA1c.2081T>C (p.Leu694Pro)
n.254T>C
c.1901T>C (p.Leu634Pro)
c.2156T>C (p.Leu719Pro)
c.1718T>C (p.Leu573Pro)
c.2018T>C (p.Leu673Pro)
n.2469T>C
9g.104828950A>TCA374322076ABCA1c.2081T>A (p.Leu694His)
n.254T>A
c.1901T>A (p.Leu634His)
c.2156T>A (p.Leu719His)
c.1718T>A (p.Leu573His)
c.2018T>A (p.Leu673His)
n.2469T>A
9g.104828951G>ACA374322079ABCA1c.2080C>T (p.Leu694Phe)
n.253C>T
c.1900C>T (p.Leu634Phe)
c.2155C>T (p.Leu719Phe)
c.1717C>T (p.Leu573Phe)
c.2017C>T (p.Leu673Phe)
n.2468C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104828951G>CCA374322077ABCA1c.2080C>G (p.Leu694Val)
n.253C>G
c.1900C>G (p.Leu634Val)
c.2155C>G (p.Leu719Val)
c.1717C>G (p.Leu573Val)
c.2017C>G (p.Leu673Val)
n.2468C>G
9g.104828951G=CA1869920044ABCA1c.2080C= (p.Leu694=)
n.253C=
c.1900C= (p.Leu634=)
c.2155C= (p.Leu719=)
c.1717C= (p.Leu573=)
c.2017C= (p.Leu673=)
n.2468C=
9g.104828951G>TCA374322078ABCA1c.2080C>A (p.Leu694Ile)
n.253C>A
c.1900C>A (p.Leu634Ile)
c.2155C>A (p.Leu719Ile)
c.1717C>A (p.Leu573Ile)
c.2017C>A (p.Leu673Ile)
n.2468C>A
 dbSNP gnomAD v4
9g.104828952A>CCA466510121ABCA1c.2079T>G (p.Leu693=)
n.252T>G
c.1899T>G (p.Leu633=)
c.2154T>G (p.Leu718=)
c.1716T>G (p.Leu572=)
c.2016T>G (p.Leu672=)
n.2467T>G
9g.104828952A>GCA466510125ABCA1c.2079T>C (p.Leu693=)
n.252T>C
c.1899T>C (p.Leu633=)
c.2154T>C (p.Leu718=)
c.1716T>C (p.Leu572=)
c.2016T>C (p.Leu672=)
n.2467T>C
9g.104828952A>TCA466510122ABCA1c.2079T>A (p.Leu693=)
n.252T>A
c.1899T>A (p.Leu633=)
c.2154T>A (p.Leu718=)
c.1716T>A (p.Leu572=)
c.2016T>A (p.Leu672=)
n.2467T>A
9g.104828953A>CCA374322080ABCA1c.2078T>G (p.Leu693Arg)
n.251T>G
c.1898T>G (p.Leu633Arg)
c.2153T>G (p.Leu718Arg)
c.1715T>G (p.Leu572Arg)
c.2015T>G (p.Leu672Arg)
n.2466T>G
9g.104828953A>GCA374322081ABCA1c.2078T>C (p.Leu693Pro)
n.251T>C
c.1898T>C (p.Leu633Pro)
c.2153T>C (p.Leu718Pro)
c.1715T>C (p.Leu572Pro)
c.2015T>C (p.Leu672Pro)
n.2466T>C
9g.104828953A>TCA374322082ABCA1c.2078T>A (p.Leu693His)
n.251T>A
c.1898T>A (p.Leu633His)
c.2153T>A (p.Leu718His)
c.1715T>A (p.Leu572His)
c.2015T>A (p.Leu672His)
n.2466T>A
9g.104828954G>ACA5168832ABCA1c.2077C>T (p.Leu693Phe)
n.250C>T
c.1897C>T (p.Leu633Phe)
c.2152C>T (p.Leu718Phe)
c.1714C>T (p.Leu572Phe)
c.2014C>T (p.Leu672Phe)
n.2465C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828954G>CCA374322083ABCA1c.2077C>G (p.Leu693Val)
n.250C>G
c.1897C>G (p.Leu633Val)
c.2152C>G (p.Leu718Val)
c.1714C>G (p.Leu572Val)
c.2014C>G (p.Leu672Val)
n.2465C>G
9g.104828954G=CA1869920060ABCA1c.2077C= (p.Leu693=)
n.250C=
c.1897C= (p.Leu633=)
c.2152C= (p.Leu718=)
c.1714C= (p.Leu572=)
c.2014C= (p.Leu672=)
n.2465C=
9g.104828954G>TCA374322084ABCA1c.2077C>A (p.Leu693Ile)
n.250C>A
c.1897C>A (p.Leu633Ile)
c.2152C>A (p.Leu718Ile)
c.1714C>A (p.Leu572Ile)
c.2014C>A (p.Leu672Ile)
n.2465C>A
9g.104828955A>CCA466510136ABCA1c.2076T>G (p.Pro692=)
n.249T>G
c.1896T>G (p.Pro632=)
c.2151T>G (p.Pro717=)
c.1713T>G (p.Pro571=)
c.2013T>G (p.Pro671=)
n.2464T>G
9g.104828955A>GCA466510138ABCA1c.2076T>C (p.Pro692=)
n.249T>C
c.1896T>C (p.Pro632=)
c.2151T>C (p.Pro717=)
c.1713T>C (p.Pro571=)
c.2013T>C (p.Pro671=)
n.2464T>C
9g.104828955A>TCA466510140ABCA1c.2076T>A (p.Pro692=)
n.249T>A
c.1896T>A (p.Pro632=)
c.2151T>A (p.Pro717=)
c.1713T>A (p.Pro571=)
c.2013T>A (p.Pro671=)
n.2464T>A
9g.104828956G>ACA374322085ABCA1c.2075C>T (p.Pro692Leu)
n.248C>T
c.1895C>T (p.Pro632Leu)
c.2150C>T (p.Pro717Leu)
c.1712C>T (p.Pro571Leu)
c.2012C>T (p.Pro671Leu)
n.2463C>T
 gnomAD v4
9g.104828956G>CCA374322086ABCA1c.2075C>G (p.Pro692Arg)
n.248C>G
c.1895C>G (p.Pro632Arg)
c.2150C>G (p.Pro717Arg)
c.1712C>G (p.Pro571Arg)
c.2012C>G (p.Pro671Arg)
n.2463C>G
9g.104828956G>TCA374322087ABCA1c.2075C>A (p.Pro692His)
n.248C>A
c.1895C>A (p.Pro632His)
c.2150C>A (p.Pro717His)
c.1712C>A (p.Pro571His)
c.2012C>A (p.Pro671His)
n.2463C>A
9g.104828957G>ACA374322088ABCA1c.2074C>T (p.Pro692Ser)
n.247C>T
c.1894C>T (p.Pro632Ser)
c.2149C>T (p.Pro717Ser)
c.1711C>T (p.Pro571Ser)
c.2011C>T (p.Pro671Ser)
n.2462C>T
9g.104828957G>CCA374322089ABCA1c.2074C>G (p.Pro692Ala)
n.247C>G
c.1894C>G (p.Pro632Ala)
c.2149C>G (p.Pro717Ala)
c.1711C>G (p.Pro571Ala)
c.2011C>G (p.Pro671Ala)
n.2462C>G
9g.104828957G>TCA374322090ABCA1c.2074C>A (p.Pro692Thr)
n.247C>A
c.1894C>A (p.Pro632Thr)
c.2149C>A (p.Pro717Thr)
c.1711C>A (p.Pro571Thr)
c.2011C>A (p.Pro671Thr)
n.2462C>A
 gnomAD v4 COSMIC
9g.104828958A>CCA374322091ABCA1c.2073T>G (p.Ile691Met)
n.246T>G
c.1893T>G (p.Ile631Met)
c.2148T>G (p.Ile716Met)
c.1710T>G (p.Ile570Met)
c.2010T>G (p.Ile670Met)
n.2461T>G
9g.104828958A>GCA466510152ABCA1c.2073T>C (p.Ile691=)
n.246T>C
c.1893T>C (p.Ile631=)
c.2148T>C (p.Ile716=)
c.1710T>C (p.Ile570=)
c.2010T>C (p.Ile670=)
n.2461T>C
9g.104828958A>TCA466510154ABCA1c.2073T>A (p.Ile691=)
n.246T>A
c.1893T>A (p.Ile631=)
c.2148T>A (p.Ile716=)
c.1710T>A (p.Ile570=)
c.2010T>A (p.Ile670=)
n.2461T>A
9g.104828959dupCA2579406926ABCA1c.2073dup (p.Pro692SerfsTer23)
n.246dup
c.1893dup (p.Pro632SerfsTer23)
c.2148dup (p.Pro717SerfsTer23)
c.1710dup (p.Pro571SerfsTer23)
c.2010dup (p.Pro671SerfsTer23)
n.2461dup
9g.104828959A>CCA374322094ABCA1c.2072T>G (p.Ile691Ser)
n.245T>G
c.1892T>G (p.Ile631Ser)
c.2147T>G (p.Ile716Ser)
c.1709T>G (p.Ile570Ser)
c.2009T>G (p.Ile670Ser)
n.2460T>G
9g.104828959A>GCA374322092ABCA1c.2072T>C (p.Ile691Thr)
n.245T>C
c.1892T>C (p.Ile631Thr)
c.2147T>C (p.Ile716Thr)
c.1709T>C (p.Ile570Thr)
c.2009T>C (p.Ile670Thr)
n.2460T>C
9g.104828959A>TCA374322093ABCA1c.2072T>A (p.Ile691Asn)
n.245T>A
c.1892T>A (p.Ile631Asn)
c.2147T>A (p.Ile716Asn)
c.1709T>A (p.Ile570Asn)
c.2009T>A (p.Ile670Asn)
n.2460T>A
9g.104828960T>ACA374322095ABCA1c.2071A>T (p.Ile691Phe)
n.244A>T
c.1891A>T (p.Ile631Phe)
c.2146A>T (p.Ile716Phe)
c.1708A>T (p.Ile570Phe)
c.2008A>T (p.Ile670Phe)
n.2459A>T
9g.104828960T>CCA374322096ABCA1c.2071A>G (p.Ile691Val)
n.244A>G
c.1891A>G (p.Ile631Val)
c.2146A>G (p.Ile716Val)
c.1708A>G (p.Ile570Val)
c.2008A>G (p.Ile670Val)
n.2459A>G
9g.104828960T>GCA374322097ABCA1c.2071A>C (p.Ile691Leu)
n.244A>C
c.1891A>C (p.Ile631Leu)
c.2146A>C (p.Ile716Leu)
c.1708A>C (p.Ile570Leu)
c.2008A>C (p.Ile670Leu)
n.2459A>C
9g.104828961G>ACA466510168ABCA1c.2070C>T (p.Leu690=)
n.243C>T
c.1890C>T (p.Leu630=)
c.2145C>T (p.Leu715=)
c.1707C>T (p.Leu569=)
c.2007C>T (p.Leu669=)
n.2458C>T
 COSMIC
9g.104828961G>CCA466510165ABCA1c.2070C>G (p.Leu690=)
n.243C>G
c.1890C>G (p.Leu630=)
c.2145C>G (p.Leu715=)
c.1707C>G (p.Leu569=)
c.2007C>G (p.Leu669=)
n.2458C>G
9g.104828961G>TCA466510164ABCA1c.2070C>A (p.Leu690=)
n.243C>A
c.1890C>A (p.Leu630=)
c.2145C>A (p.Leu715=)
c.1707C>A (p.Leu569=)
c.2007C>A (p.Leu669=)
n.2458C>A
9g.104828962A>CCA374322098ABCA1c.2069T>G (p.Leu690Arg)
n.242T>G
c.1889T>G (p.Leu630Arg)
c.2144T>G (p.Leu715Arg)
c.1706T>G (p.Leu569Arg)
c.2006T>G (p.Leu669Arg)
n.2457T>G
9g.104828962A>GCA374322099ABCA1c.2069T>C (p.Leu690Pro)
n.242T>C
c.1889T>C (p.Leu630Pro)
c.2144T>C (p.Leu715Pro)
c.1706T>C (p.Leu569Pro)
c.2006T>C (p.Leu669Pro)
n.2457T>C
9g.104828962A>TCA374322100ABCA1c.2069T>A (p.Leu690His)
n.242T>A
c.1889T>A (p.Leu630His)
c.2144T>A (p.Leu715His)
c.1706T>A (p.Leu569His)
c.2006T>A (p.Leu669His)
n.2457T>A
9g.104828963G>ACA374322102ABCA1c.2068C>T (p.Leu690Phe)
n.241C>T
c.1888C>T (p.Leu630Phe)
c.2143C>T (p.Leu715Phe)
c.1705C>T (p.Leu569Phe)
c.2005C>T (p.Leu669Phe)
n.2456C>T
9g.104828963G>CCA5168833ABCA1c.2068C>G (p.Leu690Val)
n.241C>G
c.1888C>G (p.Leu630Val)
c.2143C>G (p.Leu715Val)
c.1705C>G (p.Leu569Val)
c.2005C>G (p.Leu669Val)
n.2456C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104828963G=CA1869920065ABCA1c.2068C= (p.Leu690=)
n.241C=
c.1888C= (p.Leu630=)
c.2143C= (p.Leu715=)
c.1705C= (p.Leu569=)
c.2005C= (p.Leu669=)
n.2456C=
9g.104828963G>TCA374322101ABCA1c.2068C>A (p.Leu690Ile)
n.241C>A
c.1888C>A (p.Leu630Ile)
c.2143C>A (p.Leu715Ile)
c.1705C>A (p.Leu569Ile)
c.2005C>A (p.Leu669Ile)
n.2456C>A
9g.104828964G>ACA466510179ABCA1c.2067C>T (p.Ser689=)
n.240C>T
c.1887C>T (p.Ser629=)
c.2142C>T (p.Ser714=)
c.1704C>T (p.Ser568=)
c.2004C>T (p.Ser668=)
n.2455C>T
 dbSNP gnomAD v2 gnomAD v4
9g.104828964G>CCA5168834ABCA1c.2067C>G (p.Ser689Arg)
n.240C>G
c.1887C>G (p.Ser629Arg)
c.2142C>G (p.Ser714Arg)
c.1704C>G (p.Ser568Arg)
c.2004C>G (p.Ser668Arg)
n.2455C>G
 dbSNP ExAC gnomAD v4
9g.104828964G=CA1869920076ABCA1c.2067C= (p.Ser689=)
n.240C=
c.1887C= (p.Ser629=)
c.2142C= (p.Ser714=)
c.1704C= (p.Ser568=)
c.2004C= (p.Ser668=)
n.2455C=
9g.104828964G>TCA374322103ABCA1c.2067C>A (p.Ser689Arg)
n.240C>A
c.1887C>A (p.Ser629Arg)
c.2142C>A (p.Ser714Arg)
c.1704C>A (p.Ser568Arg)
c.2004C>A (p.Ser668Arg)
n.2455C>A
9g.104828965C>ACA374322104ABCA1c.2066G>T (p.Ser689Ile)
n.239G>T
c.1886G>T (p.Ser629Ile)
c.2141G>T (p.Ser714Ile)
c.1703G>T (p.Ser568Ile)
c.2003G>T (p.Ser668Ile)
n.2454G>T
 COSMIC
9g.104828965C>GCA374322105ABCA1c.2066G>C (p.Ser689Thr)
n.239G>C
c.1886G>C (p.Ser629Thr)
c.2141G>C (p.Ser714Thr)
c.1703G>C (p.Ser568Thr)
c.2003G>C (p.Ser668Thr)
n.2454G>C
9g.104828965C>TCA374322106ABCA1c.2066G>A (p.Ser689Asn)
n.239G>A
c.1886G>A (p.Ser629Asn)
c.2141G>A (p.Ser714Asn)
c.1703G>A (p.Ser568Asn)
c.2003G>A (p.Ser668Asn)
n.2454G>A
9g.104828966T>ACA374322109ABCA1c.2065A>T (p.Ser689Cys)
n.238A>T
c.1885A>T (p.Ser629Cys)
c.2140A>T (p.Ser714Cys)
c.1702A>T (p.Ser568Cys)
c.2002A>T (p.Ser668Cys)
n.2453A>T
9g.104828966T>CCA374322107ABCA1c.2065A>G (p.Ser689Gly)
n.238A>G
c.1885A>G (p.Ser629Gly)
c.2140A>G (p.Ser714Gly)
c.1702A>G (p.Ser568Gly)
c.2002A>G (p.Ser668Gly)
n.2453A>G
9g.104828966T>GCA374322108ABCA1c.2065A>C (p.Ser689Arg)
n.238A>C
c.1885A>C (p.Ser629Arg)
c.2140A>C (p.Ser714Arg)
c.1702A>C (p.Ser568Arg)
c.2002A>C (p.Ser668Arg)
n.2453A>C
9g.104828967A>CCA374322110ABCA1c.2064T>G (p.Ser688Arg)
n.237T>G
c.1884T>G (p.Ser628Arg)
c.2139T>G (p.Ser713Arg)
c.1701T>G (p.Ser567Arg)
c.2001T>G (p.Ser667Arg)
n.2452T>G
9g.104828967A>GCA466510193ABCA1c.2064T>C (p.Ser688=)
n.237T>C
c.1884T>C (p.Ser628=)
c.2139T>C (p.Ser713=)
c.1701T>C (p.Ser567=)
c.2001T>C (p.Ser667=)
n.2452T>C
9g.104828967A>TCA374322111ABCA1c.2064T>A (p.Ser688Arg)
n.237T>A
c.1884T>A (p.Ser628Arg)
c.2139T>A (p.Ser713Arg)
c.1701T>A (p.Ser567Arg)
c.2001T>A (p.Ser667Arg)
n.2452T>A
9g.104828968C>ACA197394979ABCA1c.2063G>T (p.Ser688Ile)
n.236G>T
c.1883G>T (p.Ser628Ile)
c.2138G>T (p.Ser713Ile)
c.1700G>T (p.Ser567Ile)
c.2000G>T (p.Ser667Ile)
n.2451G>T
 dbSNP
9g.104828968C=CA1869920081ABCA1c.2063G= (p.Ser688=)
n.236G=
c.1883G= (p.Ser628=)
c.2138G= (p.Ser713=)
c.1700G= (p.Ser567=)
c.2000G= (p.Ser667=)
n.2451G=
9g.104828968C>GCA374322112ABCA1c.2063G>C (p.Ser688Thr)
n.236G>C
c.1883G>C (p.Ser628Thr)
c.2138G>C (p.Ser713Thr)
c.1700G>C (p.Ser567Thr)
c.2000G>C (p.Ser667Thr)
n.2451G>C
9g.104828968C>TCA374322113ABCA1c.2063G>A (p.Ser688Asn)
n.236G>A
c.1883G>A (p.Ser628Asn)
c.2138G>A (p.Ser713Asn)
c.1700G>A (p.Ser567Asn)
c.2000G>A (p.Ser667Asn)
n.2451G>A
 dbSNP
9g.104828969T>ACA374322114ABCA1c.2062A>T (p.Ser688Cys)
n.235A>T
c.1882A>T (p.Ser628Cys)
c.2137A>T (p.Ser713Cys)
c.1699A>T (p.Ser567Cys)
c.1999A>T (p.Ser667Cys)
n.2450A>T
9g.104828969T>CCA374322115ABCA1c.2062A>G (p.Ser688Gly)
n.235A>G
c.1882A>G (p.Ser628Gly)
c.2137A>G (p.Ser713Gly)
c.1699A>G (p.Ser567Gly)
c.1999A>G (p.Ser667Gly)
n.2450A>G
9g.104828969T>GCA374322116ABCA1c.2062A>C (p.Ser688Arg)
n.235A>C
c.1882A>C (p.Ser628Arg)
c.2137A>C (p.Ser713Arg)
c.1699A>C (p.Ser567Arg)
c.1999A>C (p.Ser667Arg)
n.2450A>C
9g.104828970A>CCA374322117ABCA1c.2061T>G (p.Ile687Met)
n.234T>G
c.1881T>G (p.Ile627Met)
c.2136T>G (p.Ile712Met)
c.1698T>G (p.Ile566Met)
c.1998T>G (p.Ile666Met)
n.2449T>G
9g.104828970A>GCA466510206ABCA1c.2061T>C (p.Ile687=)
n.234T>C
c.1881T>C (p.Ile627=)
c.2136T>C (p.Ile712=)
c.1698T>C (p.Ile566=)
c.1998T>C (p.Ile666=)
n.2449T>C
 gnomAD v4
9g.104828970A>TCA466510208ABCA1c.2061T>A (p.Ile687=)
n.234T>A
c.1881T>A (p.Ile627=)
c.2136T>A (p.Ile712=)
c.1698T>A (p.Ile566=)
c.1998T>A (p.Ile666=)
n.2449T>A
9g.104828971A=CA1869920085ABCA1c.2060T= (p.Ile687=)
n.233T=
c.1880T= (p.Ile627=)
c.2135T= (p.Ile712=)
c.1697T= (p.Ile566=)
c.1997T= (p.Ile666=)
n.2448T=
9g.104828971A>CCA374322118ABCA1c.2060T>G (p.Ile687Ser)
n.233T>G
c.1880T>G (p.Ile627Ser)
c.2135T>G (p.Ile712Ser)
c.1697T>G (p.Ile566Ser)
c.1997T>G (p.Ile666Ser)
n.2448T>G
 dbSNP
9g.104828971A>GCA374322119ABCA1c.2060T>C (p.Ile687Thr)
n.233T>C
c.1880T>C (p.Ile627Thr)
c.2135T>C (p.Ile712Thr)
c.1697T>C (p.Ile566Thr)
c.1997T>C (p.Ile666Thr)
n.2448T>C
9g.104828971A>TCA374322120ABCA1c.2060T>A (p.Ile687Asn)
n.233T>A
c.1880T>A (p.Ile627Asn)
c.2135T>A (p.Ile712Asn)
c.1697T>A (p.Ile566Asn)
c.1997T>A (p.Ile666Asn)
n.2448T>A
9g.104828972T>ACA374322123ABCA1c.2059A>T (p.Ile687Phe)
n.232A>T
c.1879A>T (p.Ile627Phe)
c.2134A>T (p.Ile712Phe)
c.1696A>T (p.Ile566Phe)
c.1996A>T (p.Ile666Phe)
n.2447A>T
 gnomAD v4
9g.104828972T>CCA374322121ABCA1c.2059A>G (p.Ile687Val)
n.232A>G
c.1879A>G (p.Ile627Val)
c.2134A>G (p.Ile712Val)
c.1696A>G (p.Ile566Val)
c.1996A>G (p.Ile666Val)
n.2447A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104828972T>GCA374322122ABCA1c.2059A>C (p.Ile687Leu)
n.232A>C
c.1879A>C (p.Ile627Leu)
c.2134A>C (p.Ile712Leu)
c.1696A>C (p.Ile566Leu)
c.1996A>C (p.Ile666Leu)
n.2447A>C
9g.104828972T=CA1869920089ABCA1c.2059A= (p.Ile687=)
n.232A=
c.1879A= (p.Ile627=)
c.2134A= (p.Ile712=)
c.1696A= (p.Ile566=)
c.1996A= (p.Ile666=)
n.2447A=
9g.104828973G>ACA466510220ABCA1c.2058C>T (p.Phe686=)
n.231C>T
c.1878C>T (p.Phe626=)
c.2133C>T (p.Phe711=)
c.1695C>T (p.Phe565=)
c.1995C>T (p.Phe665=)
n.2446C>T
9g.104828973G>CCA374322124ABCA1c.2058C>G (p.Phe686Leu)
n.231C>G
c.1878C>G (p.Phe626Leu)
c.2133C>G (p.Phe711Leu)
c.1695C>G (p.Phe565Leu)
c.1995C>G (p.Phe665Leu)
n.2446C>G
9g.104828973G=CA1869920093ABCA1c.2058C= (p.Phe686=)
n.231C=
c.1878C= (p.Phe626=)
c.2133C= (p.Phe711=)
c.1695C= (p.Phe565=)
c.1995C= (p.Phe665=)
n.2446C=
9g.104828973G>TCA5168835ABCA1c.2058C>A (p.Phe686Leu)
n.231C>A
c.1878C>A (p.Phe626Leu)
c.2133C>A (p.Phe711Leu)
c.1695C>A (p.Phe565Leu)
c.1995C>A (p.Phe665Leu)
n.2446C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828974A>CCA374322125ABCA1c.2057T>G (p.Phe686Cys)
n.230T>G
c.1877T>G (p.Phe626Cys)
c.2132T>G (p.Phe711Cys)
c.1694T>G (p.Phe565Cys)
c.1994T>G (p.Phe665Cys)
n.2445T>G
9g.104828974A>GCA374322126ABCA1c.2057T>C (p.Phe686Ser)
n.230T>C
c.1877T>C (p.Phe626Ser)
c.2132T>C (p.Phe711Ser)
c.1694T>C (p.Phe565Ser)
c.1994T>C (p.Phe665Ser)
n.2445T>C
9g.104828974A>TCA374322127ABCA1c.2057T>A (p.Phe686Tyr)
n.230T>A
c.1877T>A (p.Phe626Tyr)
c.2132T>A (p.Phe711Tyr)
c.1694T>A (p.Phe565Tyr)
c.1994T>A (p.Phe665Tyr)
n.2445T>A
9g.104828975A>CCA374322130ABCA1c.2056T>G (p.Phe686Val)
n.229T>G
c.1876T>G (p.Phe626Val)
c.2131T>G (p.Phe711Val)
c.1693T>G (p.Phe565Val)
c.1993T>G (p.Phe665Val)
n.2444T>G
9g.104828975A>GCA374322129ABCA1c.2056T>C (p.Phe686Leu)
n.229T>C
c.1876T>C (p.Phe626Leu)
c.2131T>C (p.Phe711Leu)
c.1693T>C (p.Phe565Leu)
c.1993T>C (p.Phe665Leu)
n.2444T>C
9g.104828975A>TCA374322128ABCA1c.2056T>A (p.Phe686Ile)
n.229T>A
c.1876T>A (p.Phe626Ile)
c.2131T>A (p.Phe711Ile)
c.1693T>A (p.Phe565Ile)
c.1993T>A (p.Phe665Ile)
n.2444T>A
9g.104828976C>ACA5168836ABCA1c.2055G>T (p.Trp685Cys)
n.228G>T
c.1875G>T (p.Trp625Cys)
c.2130G>T (p.Trp710Cys)
c.1692G>T (p.Trp564Cys)
c.1992G>T (p.Trp664Cys)
n.2443G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104828976C=CA1869920103ABCA1c.2055G= (p.Trp685=)
n.228G=
c.1875G= (p.Trp625=)
c.2130G= (p.Trp710=)
c.1692G= (p.Trp564=)
c.1992G= (p.Trp664=)
n.2443G=
9g.104828976C>GCA374322131ABCA1c.2055G>C (p.Trp685Cys)
n.228G>C
c.1875G>C (p.Trp625Cys)
c.2130G>C (p.Trp710Cys)
c.1692G>C (p.Trp564Cys)
c.1992G>C (p.Trp664Cys)
n.2443G>C
9g.104828976C>TCA374322132ABCA1c.2055G>A (p.Trp685Ter)
n.228G>A
c.1875G>A (p.Trp625Ter)
c.2130G>A (p.Trp710Ter)
c.1692G>A (p.Trp564Ter)
c.1992G>A (p.Trp664Ter)
n.2443G>A
 COSMIC
9g.104828977C>ACA374322133ABCA1c.2054G>T (p.Trp685Leu)
n.227G>T
c.1874G>T (p.Trp625Leu)
c.2129G>T (p.Trp710Leu)
c.1691G>T (p.Trp564Leu)
c.1991G>T (p.Trp664Leu)
n.2442G>T
9g.104828977C>GCA374322134ABCA1c.2054G>C (p.Trp685Ser)
n.227G>C
c.1874G>C (p.Trp625Ser)
c.2129G>C (p.Trp710Ser)
c.1691G>C (p.Trp564Ser)
c.1991G>C (p.Trp664Ser)
n.2442G>C
9g.104828977C>TCA374322135ABCA1c.2054G>A (p.Trp685Ter)
n.227G>A
c.1874G>A (p.Trp625Ter)
c.2129G>A (p.Trp710Ter)
c.1691G>A (p.Trp564Ter)
c.1991G>A (p.Trp664Ter)
n.2442G>A
9g.104828978A=CA1869920108ABCA1c.2053T= (p.Trp685=)
n.226T=
c.1873T= (p.Trp625=)
c.2128T= (p.Trp710=)
c.1690T= (p.Trp564=)
c.1990T= (p.Trp664=)
n.2441T=
9g.104828978A>CCA374322138ABCA1c.2053T>G (p.Trp685Gly)
n.226T>G
c.1873T>G (p.Trp625Gly)
c.2128T>G (p.Trp710Gly)
c.1690T>G (p.Trp564Gly)
c.1990T>G (p.Trp664Gly)
n.2441T>G
9g.104828978A>GCA374322136ABCA1c.2053T>C (p.Trp685Arg)
n.226T>C
c.1873T>C (p.Trp625Arg)
c.2128T>C (p.Trp710Arg)
c.1690T>C (p.Trp564Arg)
c.1990T>C (p.Trp664Arg)
n.2441T>C
9g.104828978A>TCA374322137ABCA1c.2053T>A (p.Trp685Arg)
n.226T>A
c.1873T>A (p.Trp625Arg)
c.2128T>A (p.Trp710Arg)
c.1690T>A (p.Trp564Arg)
c.1990T>A (p.Trp664Arg)
n.2441T>A
 dbSNP gnomAD v4
9g.104828979G>ACA466510244ABCA1c.2052C>T (p.Ser684=)
n.225C>T
c.1872C>T (p.Ser624=)
c.2127C>T (p.Ser709=)
c.1689C>T (p.Ser563=)
c.1989C>T (p.Ser663=)
n.2440C>T
9g.104828979G>CCA374322139ABCA1c.2052C>G (p.Ser684Arg)
n.225C>G
c.1872C>G (p.Ser624Arg)
c.2127C>G (p.Ser709Arg)
c.1689C>G (p.Ser563Arg)
c.1989C>G (p.Ser663Arg)
n.2440C>G
 gnomAD v4
9g.104828979G>TCA374322140ABCA1c.2052C>A (p.Ser684Arg)
n.225C>A
c.1872C>A (p.Ser624Arg)
c.2127C>A (p.Ser709Arg)
c.1689C>A (p.Ser563Arg)
c.1989C>A (p.Ser663Arg)
n.2440C>A
9g.104828980C>ACA374322141ABCA1c.2051G>T (p.Ser684Ile)
n.224G>T
c.1871G>T (p.Ser624Ile)
c.2126G>T (p.Ser709Ile)
c.1688G>T (p.Ser563Ile)
c.1988G>T (p.Ser663Ile)
n.2439G>T
 gnomAD v4
9g.104828980C=CA1869920111ABCA1c.2051G= (p.Ser684=)
n.224G=
c.1871G= (p.Ser624=)
c.2126G= (p.Ser709=)
c.1688G= (p.Ser563=)
c.1988G= (p.Ser663=)
n.2439G=
9g.104828980C>GCA374322142ABCA1c.2051G>C (p.Ser684Thr)
n.224G>C
c.1871G>C (p.Ser624Thr)
c.2126G>C (p.Ser709Thr)
c.1688G>C (p.Ser563Thr)
c.1988G>C (p.Ser663Thr)
n.2439G>C
9g.104828980C>TCA374322143ABCA1c.2051G>A (p.Ser684Asn)
n.224G>A
c.1871G>A (p.Ser624Asn)
c.2126G>A (p.Ser709Asn)
c.1688G>A (p.Ser563Asn)
c.1988G>A (p.Ser663Asn)
n.2439G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.104828981T>ACA374322144ABCA1c.2050A>T (p.Ser684Cys)
n.223A>T
c.1870A>T (p.Ser624Cys)
c.2125A>T (p.Ser709Cys)
c.1687A>T (p.Ser563Cys)
c.1987A>T (p.Ser663Cys)
n.2438A>T
9g.104828981T>CCA374322145ABCA1c.2050A>G (p.Ser684Gly)
n.223A>G
c.1870A>G (p.Ser624Gly)
c.2125A>G (p.Ser709Gly)
c.1687A>G (p.Ser563Gly)
c.1987A>G (p.Ser663Gly)
n.2438A>G
 gnomAD v4
9g.104828981T>GCA374322146ABCA1c.2050A>C (p.Ser684Arg)
n.223A>C
c.1870A>C (p.Ser624Arg)
c.2125A>C (p.Ser709Arg)
c.1687A>C (p.Ser563Arg)
c.1987A>C (p.Ser663Arg)
n.2438A>C
9g.104828982A>CCA374322147ABCA1c.2049T>G (p.Phe683Leu)
n.222T>G
c.1869T>G (p.Phe623Leu)
c.2124T>G (p.Phe708Leu)
c.1686T>G (p.Phe562Leu)
c.1986T>G (p.Phe662Leu)
n.2437T>G
9g.104828982A>GCA466510259ABCA1c.2049T>C (p.Phe683=)
n.222T>C
c.1869T>C (p.Phe623=)
c.2124T>C (p.Phe708=)
c.1686T>C (p.Phe562=)
c.1986T>C (p.Phe662=)
n.2437T>C
9g.104828982A>TCA374322148ABCA1c.2049T>A (p.Phe683Leu)
n.222T>A
c.1869T>A (p.Phe623Leu)
c.2124T>A (p.Phe708Leu)
c.1686T>A (p.Phe562Leu)
c.1986T>A (p.Phe662Leu)
n.2437T>A
9g.104828983A>CCA374322149ABCA1c.2048T>G (p.Phe683Cys)
n.221T>G
c.1868T>G (p.Phe623Cys)
c.2123T>G (p.Phe708Cys)
c.1685T>G (p.Phe562Cys)
c.1985T>G (p.Phe662Cys)
n.2436T>G
9g.104828983A>GCA374322150ABCA1c.2048T>C (p.Phe683Ser)
n.221T>C
c.1868T>C (p.Phe623Ser)
c.2123T>C (p.Phe708Ser)
c.1685T>C (p.Phe562Ser)
c.1985T>C (p.Phe662Ser)
n.2436T>C
9g.104828983A>TCA374322151ABCA1c.2048T>A (p.Phe683Tyr)
n.221T>A
c.1868T>A (p.Phe623Tyr)
c.2123T>A (p.Phe708Tyr)
c.1685T>A (p.Phe562Tyr)
c.1985T>A (p.Phe662Tyr)
n.2436T>A
9g.104828984A>CCA374322154ABCA1c.2047T>G (p.Phe683Val)
n.220T>G
c.1867T>G (p.Phe623Val)
c.2122T>G (p.Phe708Val)
c.1684T>G (p.Phe562Val)
c.1984T>G (p.Phe662Val)
n.2435T>G
9g.104828984A>GCA374322152ABCA1c.2047T>C (p.Phe683Leu)
n.220T>C
c.1867T>C (p.Phe623Leu)
c.2122T>C (p.Phe708Leu)
c.1684T>C (p.Phe562Leu)
c.1984T>C (p.Phe662Leu)
n.2435T>C
9g.104828984A>TCA374322153ABCA1c.2047T>A (p.Phe683Ile)
n.220T>A
c.1867T>A (p.Phe623Ile)
c.2122T>A (p.Phe708Ile)
c.1684T>A (p.Phe562Ile)
c.1984T>A (p.Phe662Ile)
n.2435T>A
9g.104828985C>ACA374322155ABCA1c.2046G>T (p.Trp682Cys)
n.219G>T
c.1866G>T (p.Trp622Cys)
c.2121G>T (p.Trp707Cys)
c.1683G>T (p.Trp561Cys)
c.1983G>T (p.Trp661Cys)
n.2434G>T
9g.104828985C=CA1869920116ABCA1c.2046G= (p.Trp682=)
n.219G=
c.1866G= (p.Trp622=)
c.2121G= (p.Trp707=)
c.1683G= (p.Trp561=)
c.1983G= (p.Trp661=)
n.2434G=
9g.104828985C>GCA374322156ABCA1c.2046G>C (p.Trp682Cys)
n.219G>C
c.1866G>C (p.Trp622Cys)
c.2121G>C (p.Trp707Cys)
c.1683G>C (p.Trp561Cys)
c.1983G>C (p.Trp661Cys)
n.2434G>C
9g.104828985C>TCA374322157ABCA1c.2046G>A (p.Trp682Ter)
n.219G>A
c.1866G>A (p.Trp622Ter)
c.2121G>A (p.Trp707Ter)
c.1683G>A (p.Trp561Ter)
c.1983G>A (p.Trp661Ter)
n.2434G>A
 dbSNP gnomAD v3 gnomAD v4
9g.104828986C>ACA374322158ABCA1c.2045G>T (p.Trp682Leu)
n.218G>T
c.1865G>T (p.Trp622Leu)
c.2120G>T (p.Trp707Leu)
c.1682G>T (p.Trp561Leu)
c.1982G>T (p.Trp661Leu)
n.2433G>T
9g.104828986C>GCA374322159ABCA1c.2045G>C (p.Trp682Ser)
n.218G>C
c.1865G>C (p.Trp622Ser)
c.2120G>C (p.Trp707Ser)
c.1682G>C (p.Trp561Ser)
c.1982G>C (p.Trp661Ser)
n.2433G>C
9g.104828986C>TCA374322160ABCA1c.2045G>A (p.Trp682Ter)
n.218G>A
c.1865G>A (p.Trp622Ter)
c.2120G>A (p.Trp707Ter)
c.1682G>A (p.Trp561Ter)
c.1982G>A (p.Trp661Ter)
n.2433G>A
9g.104828987A=CA1869920140ABCA1c.2044T= (p.Trp682=)
n.217T=
c.1864T= (p.Trp622=)
c.2119T= (p.Trp707=)
c.1681T= (p.Trp561=)
c.1981T= (p.Trp661=)
n.2432T=
9g.104828987A>CCA374322161ABCA1c.2044T>G (p.Trp682Gly)
n.217T>G
c.1864T>G (p.Trp622Gly)
c.2119T>G (p.Trp707Gly)
c.1681T>G (p.Trp561Gly)
c.1981T>G (p.Trp661Gly)
n.2432T>G
9g.104828987A>GCA5168837ABCA1c.2044T>C (p.Trp682Arg)
n.217T>C
c.1864T>C (p.Trp622Arg)
c.2119T>C (p.Trp707Arg)
c.1681T>C (p.Trp561Arg)
c.1981T>C (p.Trp661Arg)
n.2432T>C
 dbSNP ExAC gnomAD v2
9g.104828987A>TCA374322162ABCA1c.2044T>A (p.Trp682Arg)
n.217T>A
c.1864T>A (p.Trp622Arg)
c.2119T>A (p.Trp707Arg)
c.1681T>A (p.Trp561Arg)
c.1981T>A (p.Trp661Arg)
n.2432T>A
9g.104828988G>ACA466510286ABCA1c.2043C>T (p.Leu681=)
n.216C>T
c.1863C>T (p.Leu621=)
c.2118C>T (p.Leu706=)
c.1680C>T (p.Leu560=)
c.1980C>T (p.Leu660=)
n.2431C>T
9g.104828988G>CCA466510288ABCA1c.2043C>G (p.Leu681=)
n.216C>G
c.1863C>G (p.Leu621=)
c.2118C>G (p.Leu706=)
c.1680C>G (p.Leu560=)
c.1980C>G (p.Leu660=)
n.2431C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104828988G=CA1869920146ABCA1c.2043C= (p.Leu681=)
n.216C=
c.1863C= (p.Leu621=)
c.2118C= (p.Leu706=)
c.1680C= (p.Leu560=)
c.1980C= (p.Leu660=)
n.2431C=
9g.104828988G>TCA197395006ABCA1c.2043C>A (p.Leu681=)
n.216C>A
c.1863C>A (p.Leu621=)
c.2118C>A (p.Leu706=)
c.1680C>A (p.Leu560=)
c.1980C>A (p.Leu660=)
n.2431C>A
 dbSNP gnomAD v4
9g.104828989A=CA1869920156ABCA1c.2042T= (p.Leu681=)
n.215T=
c.1862T= (p.Leu621=)
c.2117T= (p.Leu706=)
c.1679T= (p.Leu560=)
c.1979T= (p.Leu660=)
n.2430T=
9g.104828989A>CCA374322163ABCA1c.2042T>G (p.Leu681Arg)
n.215T>G
c.1862T>G (p.Leu621Arg)
c.2117T>G (p.Leu706Arg)
c.1679T>G (p.Leu560Arg)
c.1979T>G (p.Leu660Arg)
n.2430T>G
9g.104828989A>GCA374322164ABCA1c.2042T>C (p.Leu681Pro)
n.215T>C
c.1862T>C (p.Leu621Pro)
c.2117T>C (p.Leu706Pro)
c.1679T>C (p.Leu560Pro)
c.1979T>C (p.Leu660Pro)
n.2430T>C
 dbSNP gnomAD v4
9g.104828989A>TCA374322165ABCA1c.2042T>A (p.Leu681His)
n.215T>A
c.1862T>A (p.Leu621His)
c.2117T>A (p.Leu706His)
c.1679T>A (p.Leu560His)
c.1979T>A (p.Leu660His)
n.2430T>A
9g.104828990G>ACA374322168ABCA1c.2041C>T (p.Leu681Phe)
n.214C>T
c.1861C>T (p.Leu621Phe)
c.2116C>T (p.Leu706Phe)
c.1678C>T (p.Leu560Phe)
c.1978C>T (p.Leu660Phe)
n.2429C>T
9g.104828990G>CCA374322167ABCA1c.2041C>G (p.Leu681Val)
n.214C>G
c.1861C>G (p.Leu621Val)
c.2116C>G (p.Leu706Val)
c.1678C>G (p.Leu560Val)
c.1978C>G (p.Leu660Val)
n.2429C>G
9g.104828990G>TCA374322166ABCA1c.2041C>A (p.Leu681Ile)
n.214C>A
c.1861C>A (p.Leu621Ile)
c.2116C>A (p.Leu706Ile)
c.1678C>A (p.Leu560Ile)
c.1978C>A (p.Leu660Ile)
n.2429C>A
9g.104828991G>ACA466510297ABCA1c.2040C>T (p.Ile680=)
n.213C>T
c.1860C>T (p.Ile620=)
c.2115C>T (p.Ile705=)
c.1677C>T (p.Ile559=)
c.1977C>T (p.Ile659=)
n.2428C>T
9g.104828991G>CCA374322169ABCA1c.2040C>G (p.Ile680Met)
n.213C>G
c.1860C>G (p.Ile620Met)
c.2115C>G (p.Ile705Met)
c.1677C>G (p.Ile559Met)
c.1977C>G (p.Ile659Met)
n.2428C>G
 dbSNP
9g.104828991G=CA1869920162ABCA1c.2040C= (p.Ile680=)
n.213C=
c.1860C= (p.Ile620=)
c.2115C= (p.Ile705=)
c.1677C= (p.Ile559=)
c.1977C= (p.Ile659=)
n.2428C=
9g.104828991G>TCA5168838ABCA1c.2040C>A (p.Ile680=)
n.213C>A
c.1860C>A (p.Ile620=)
c.2115C>A (p.Ile705=)
c.1677C>A (p.Ile559=)
c.1977C>A (p.Ile659=)
n.2428C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828992A>CCA374322170ABCA1c.2039T>G (p.Ile680Ser)
n.212T>G
c.1859T>G (p.Ile620Ser)
c.2114T>G (p.Ile705Ser)
c.1676T>G (p.Ile559Ser)
c.1976T>G (p.Ile659Ser)
n.2427T>G
9g.104828992A>GCA374322171ABCA1c.2039T>C (p.Ile680Thr)
n.212T>C
c.1859T>C (p.Ile620Thr)
c.2114T>C (p.Ile705Thr)
c.1676T>C (p.Ile559Thr)
c.1976T>C (p.Ile659Thr)
n.2427T>C
9g.104828992A>TCA374322172ABCA1c.2039T>A (p.Ile680Asn)
n.212T>A
c.1859T>A (p.Ile620Asn)
c.2114T>A (p.Ile705Asn)
c.1676T>A (p.Ile559Asn)
c.1976T>A (p.Ile659Asn)
n.2427T>A
9g.104828993T>ACA374322173ABCA1c.2038A>T (p.Ile680Phe)
n.211A>T
c.1858A>T (p.Ile620Phe)
c.2113A>T (p.Ile705Phe)
c.1675A>T (p.Ile559Phe)
c.1975A>T (p.Ile659Phe)
n.2426A>T
9g.104828993T>CCA374322174ABCA1c.2038A>G (p.Ile680Val)
n.211A>G
c.1858A>G (p.Ile620Val)
c.2113A>G (p.Ile705Val)
c.1675A>G (p.Ile559Val)
c.1975A>G (p.Ile659Val)
n.2426A>G
9g.104828993T>GCA374322175ABCA1c.2038A>C (p.Ile680Leu)
n.211A>C
c.1858A>C (p.Ile620Leu)
c.2113A>C (p.Ile705Leu)
c.1675A>C (p.Ile559Leu)
c.1975A>C (p.Ile659Leu)
n.2426A>C
9g.104828994G>ACA466510312ABCA1c.2037C>T (p.Ser679=)
n.210C>T
c.1857C>T (p.Ser619=)
c.2112C>T (p.Ser704=)
c.1674C>T (p.Ser558=)
c.1974C>T (p.Ser658=)
n.2425C>T
9g.104828994G>CCA374322176ABCA1c.2037C>G (p.Ser679Arg)
n.210C>G
c.1857C>G (p.Ser619Arg)
c.2112C>G (p.Ser704Arg)
c.1674C>G (p.Ser558Arg)
c.1974C>G (p.Ser658Arg)
n.2425C>G
9g.104828994G>TCA374322177ABCA1c.2037C>A (p.Ser679Arg)
n.210C>A
c.1857C>A (p.Ser619Arg)
c.2112C>A (p.Ser704Arg)
c.1674C>A (p.Ser558Arg)
c.1974C>A (p.Ser658Arg)
n.2425C>A
9g.104828995C>ACA374322178ABCA1c.2036G>T (p.Ser679Ile)
n.209G>T
c.1856G>T (p.Ser619Ile)
c.2111G>T (p.Ser704Ile)
c.1673G>T (p.Ser558Ile)
c.1973G>T (p.Ser658Ile)
n.2424G>T
9g.104828995C>GCA374322179ABCA1c.2036G>C (p.Ser679Thr)
n.209G>C
c.1856G>C (p.Ser619Thr)
c.2111G>C (p.Ser704Thr)
c.1673G>C (p.Ser558Thr)
c.1973G>C (p.Ser658Thr)
n.2424G>C
9g.104828995C>TCA374322180ABCA1c.2036G>A (p.Ser679Asn)
n.209G>A
c.1856G>A (p.Ser619Asn)
c.2111G>A (p.Ser704Asn)
c.1673G>A (p.Ser558Asn)
c.1973G>A (p.Ser658Asn)
n.2424G>A
9g.104828996T>ACA374322182ABCA1c.2035A>T (p.Ser679Cys)
n.208A>T
c.1855A>T (p.Ser619Cys)
c.2110A>T (p.Ser704Cys)
c.1672A>T (p.Ser558Cys)
c.1972A>T (p.Ser658Cys)
n.2423A>T
9g.104828996T>CCA374322183ABCA1c.2035A>G (p.Ser679Gly)
n.208A>G
c.1855A>G (p.Ser619Gly)
c.2110A>G (p.Ser704Gly)
c.1672A>G (p.Ser558Gly)
c.1972A>G (p.Ser658Gly)
n.2423A>G
9g.104828996T>GCA374322181ABCA1c.2035A>C (p.Ser679Arg)
n.208A>C
c.1855A>C (p.Ser619Arg)
c.2110A>C (p.Ser704Arg)
c.1672A>C (p.Ser558Arg)
c.1972A>C (p.Ser658Arg)
n.2423A>C
9g.104828997G>ACA5168839ABCA1c.2034C>T (p.Asn678=)
n.207C>T
c.1854C>T (p.Asn618=)
c.2109C>T (p.Asn703=)
c.1671C>T (p.Asn557=)
c.1971C>T (p.Asn657=)
n.2422C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104828997G>CCA374322185ABCA1c.2034C>G (p.Asn678Lys)
n.207C>G
c.1854C>G (p.Asn618Lys)
c.2109C>G (p.Asn703Lys)
c.1671C>G (p.Asn557Lys)
c.1971C>G (p.Asn657Lys)
n.2422C>G
9g.104828997G=CA1869920167ABCA1c.2034C= (p.Asn678=)
n.207C=
c.1854C= (p.Asn618=)
c.2109C= (p.Asn703=)
c.1671C= (p.Asn557=)
c.1971C= (p.Asn657=)
n.2422C=
9g.104828997G>TCA374322184ABCA1c.2034C>A (p.Asn678Lys)
n.207C>A
c.1854C>A (p.Asn618Lys)
c.2109C>A (p.Asn703Lys)
c.1671C>A (p.Asn557Lys)
c.1971C>A (p.Asn657Lys)
n.2422C>A
9g.104828998T>ACA374322186ABCA1c.2033A>T (p.Asn678Ile)
n.206A>T
c.1853A>T (p.Asn618Ile)
c.2108A>T (p.Asn703Ile)
c.1670A>T (p.Asn557Ile)
c.1970A>T (p.Asn657Ile)
n.2421A>T
9g.104828998T>CCA374322188ABCA1c.2033A>G (p.Asn678Ser)
n.206A>G
c.1853A>G (p.Asn618Ser)
c.2108A>G (p.Asn703Ser)
c.1670A>G (p.Asn557Ser)
c.1970A>G (p.Asn657Ser)
n.2421A>G
 dbSNP gnomAD v4
9g.104828998T>GCA374322187ABCA1c.2033A>C (p.Asn678Thr)
n.206A>C
c.1853A>C (p.Asn618Thr)
c.2108A>C (p.Asn703Thr)
c.1670A>C (p.Asn557Thr)
c.1970A>C (p.Asn657Thr)
n.2421A>C
9g.104828999T>ACA374322189ABCA1c.2032A>T (p.Asn678Tyr)
n.205A>T
c.1852A>T (p.Asn618Tyr)
c.2107A>T (p.Asn703Tyr)
c.1669A>T (p.Asn557Tyr)
c.1969A>T (p.Asn657Tyr)
n.2420A>T
9g.104828999T>CCA374322190ABCA1c.2032A>G (p.Asn678Asp)
n.205A>G
c.1852A>G (p.Asn618Asp)
c.2107A>G (p.Asn703Asp)
c.1669A>G (p.Asn557Asp)
c.1969A>G (p.Asn657Asp)
n.2420A>G
 gnomAD v4
9g.104828999T>GCA374322191ABCA1c.2032A>C (p.Asn678His)
n.205A>C
c.1852A>C (p.Asn618His)
c.2107A>C (p.Asn703His)
c.1669A>C (p.Asn557His)
c.1969A>C (p.Asn657His)
n.2420A>C
9g.104829000G>ACA466510335ABCA1c.2031C>T (p.Asp677=)
n.204C>T
c.1851C>T (p.Asp617=)
c.2106C>T (p.Asp702=)
c.1668C>T (p.Asp556=)
c.1968C>T (p.Asp656=)
n.2419C>T
9g.104829000G>CCA374322192ABCA1c.2031C>G (p.Asp677Glu)
n.204C>G
c.1851C>G (p.Asp617Glu)
c.2106C>G (p.Asp702Glu)
c.1668C>G (p.Asp556Glu)
c.1968C>G (p.Asp656Glu)
n.2419C>G
9g.104829000G=CA1869920172ABCA1c.2031C= (p.Asp677=)
n.204C=
c.1851C= (p.Asp617=)
c.2106C= (p.Asp702=)
c.1668C= (p.Asp556=)
c.1968C= (p.Asp656=)
n.2419C=
9g.104829000G>TCA374322193ABCA1c.2031C>A (p.Asp677Glu)
n.204C>A
c.1851C>A (p.Asp617Glu)
c.2106C>A (p.Asp702Glu)
c.1668C>A (p.Asp556Glu)
c.1968C>A (p.Asp656Glu)
n.2419C>A
 dbSNP gnomAD v4
9g.104829001T>ACA374322194ABCA1c.2030A>T (p.Asp677Val)
n.203A>T
c.1850A>T (p.Asp617Val)
c.2105A>T (p.Asp702Val)
c.1667A>T (p.Asp556Val)
c.1967A>T (p.Asp656Val)
n.2418A>T
9g.104829001T>CCA374322195ABCA1c.2030A>G (p.Asp677Gly)
n.203A>G
c.1850A>G (p.Asp617Gly)
c.2105A>G (p.Asp702Gly)
c.1667A>G (p.Asp556Gly)
c.1967A>G (p.Asp656Gly)
n.2418A>G
 gnomAD v4
9g.104829001T>GCA374322196ABCA1c.2030A>C (p.Asp677Ala)
n.203A>C
c.1850A>C (p.Asp617Ala)
c.2105A>C (p.Asp702Ala)
c.1667A>C (p.Asp556Ala)
c.1967A>C (p.Asp656Ala)
n.2418A>C
9g.104829002C>ACA374322197ABCA1c.2029G>T (p.Asp677Tyr)
n.202G>T
c.1849G>T (p.Asp617Tyr)
c.2104G>T (p.Asp702Tyr)
c.1666G>T (p.Asp556Tyr)
c.1966G>T (p.Asp656Tyr)
n.2417G>T
9g.104829002C>GCA374322198ABCA1c.2029G>C (p.Asp677His)
n.202G>C
c.1849G>C (p.Asp617His)
c.2104G>C (p.Asp702His)
c.1666G>C (p.Asp556His)
c.1966G>C (p.Asp656His)
n.2417G>C
9g.104829002C>TCA374322199ABCA1c.2029G>A (p.Asp677Asn)
n.202G>A
c.1849G>A (p.Asp617Asn)
c.2104G>A (p.Asp702Asn)
c.1666G>A (p.Asp556Asn)
c.1966G>A (p.Asp656Asn)
n.2417G>A
9g.104829003delCA2695203295ABCA1c.2029del (p.Asp677ThrfsTer19)
n.202del
c.1849del (p.Asp617ThrfsTer19)
c.2104del (p.Asp702ThrfsTer19)
c.1666del (p.Asp556ThrfsTer19)
c.1966del (p.Asp656ThrfsTer19)
n.2417del
9g.104829003C>ACA466510353ABCA1c.2028G>T (p.Leu676=)
n.201G>T
c.1848G>T (p.Leu616=)
c.2103G>T (p.Leu701=)
c.1665G>T (p.Leu555=)
c.1965G>T (p.Leu655=)
n.2416G>T
9g.104829003C>GCA466510351ABCA1c.2028G>C (p.Leu676=)
n.201G>C
c.1848G>C (p.Leu616=)
c.2103G>C (p.Leu701=)
c.1665G>C (p.Leu555=)
c.1965G>C (p.Leu655=)
n.2416G>C
9g.104829003C>TCA466510349ABCA1c.2028G>A (p.Leu676=)
n.201G>A
c.1848G>A (p.Leu616=)
c.2103G>A (p.Leu701=)
c.1665G>A (p.Leu555=)
c.1965G>A (p.Leu655=)
n.2416G>A
9g.104829004A=CA1869920176ABCA1c.2027T= (p.Leu676=)
n.200T=
c.1847T= (p.Leu616=)
c.2102T= (p.Leu701=)
c.1664T= (p.Leu555=)
c.1964T= (p.Leu655=)
n.2415T=
9g.104829004A>CCA374322201ABCA1c.2027T>G (p.Leu676Arg)
n.200T>G
c.1847T>G (p.Leu616Arg)
c.2102T>G (p.Leu701Arg)
c.1664T>G (p.Leu555Arg)
c.1964T>G (p.Leu655Arg)
n.2415T>G
9g.104829004A>GCA5168840ABCA1c.2027T>C (p.Leu676Pro)
n.200T>C
c.1847T>C (p.Leu616Pro)
c.2102T>C (p.Leu701Pro)
c.1664T>C (p.Leu555Pro)
c.1964T>C (p.Leu655Pro)
n.2415T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829004A>TCA374322200ABCA1c.2027T>A (p.Leu676Gln)
n.200T>A
c.1847T>A (p.Leu616Gln)
c.2102T>A (p.Leu701Gln)
c.1664T>A (p.Leu555Gln)
c.1964T>A (p.Leu655Gln)
n.2415T>A
9g.104829005G>ACA466510360ABCA1c.2026C>T (p.Leu676=)
n.199C>T
c.1846C>T (p.Leu616=)
c.2101C>T (p.Leu701=)
c.1663C>T (p.Leu555=)
c.1963C>T (p.Leu655=)
n.2414C>T
 dbSNP gnomAD v4
9g.104829005G>CCA374322202ABCA1c.2026C>G (p.Leu676Val)
n.199C>G
c.1846C>G (p.Leu616Val)
c.2101C>G (p.Leu701Val)
c.1663C>G (p.Leu555Val)
c.1963C>G (p.Leu655Val)
n.2414C>G
 gnomAD v4
9g.104829005G=CA1869920181ABCA1c.2026C= (p.Leu676=)
n.199C=
c.1846C= (p.Leu616=)
c.2101C= (p.Leu701=)
c.1663C= (p.Leu555=)
c.1963C= (p.Leu655=)
n.2414C=
9g.104829005G>TCA374322203ABCA1c.2026C>A (p.Leu676Met)
n.199C>A
c.1846C>A (p.Leu616Met)
c.2101C>A (p.Leu701Met)
c.1663C>A (p.Leu555Met)
c.1963C>A (p.Leu655Met)
n.2414C>A
 COSMIC
9g.104829006G>ACA466510369ABCA1c.2025C>T (p.Gly675=)
n.198C>T
c.1845C>T (p.Gly615=)
c.2100C>T (p.Gly700=)
c.1662C>T (p.Gly554=)
c.1962C>T (p.Gly654=)
n.2413C>T
 gnomAD v4
9g.104829006G>CCA466510367ABCA1c.2025C>G (p.Gly675=)
n.198C>G
c.1845C>G (p.Gly615=)
c.2100C>G (p.Gly700=)
c.1662C>G (p.Gly554=)
c.1962C>G (p.Gly654=)
n.2413C>G
9g.104829006G>TCA466510366ABCA1c.2025C>A (p.Gly675=)
n.198C>A
c.1845C>A (p.Gly615=)
c.2100C>A (p.Gly700=)
c.1662C>A (p.Gly554=)
c.1962C>A (p.Gly654=)
n.2413C>A
9g.104829007C>ACA374322204ABCA1c.2024G>T (p.Gly675Val)
n.197G>T
c.1844G>T (p.Gly615Val)
c.2099G>T (p.Gly700Val)
c.1661G>T (p.Gly554Val)
c.1961G>T (p.Gly654Val)
n.2412G>T
9g.104829007C>GCA374322205ABCA1c.2024G>C (p.Gly675Ala)
n.197G>C
c.1844G>C (p.Gly615Ala)
c.2099G>C (p.Gly700Ala)
c.1661G>C (p.Gly554Ala)
c.1961G>C (p.Gly654Ala)
n.2412G>C
9g.104829007C>TCA374322206ABCA1c.2024G>A (p.Gly675Asp)
n.197G>A
c.1844G>A (p.Gly615Asp)
c.2099G>A (p.Gly700Asp)
c.1661G>A (p.Gly554Asp)
c.1961G>A (p.Gly654Asp)
n.2412G>A
9g.104829008C>ACA374322207ABCA1c.2023G>T (p.Gly675Cys)
n.196G>T
c.1843G>T (p.Gly615Cys)
c.2098G>T (p.Gly700Cys)
c.1660G>T (p.Gly554Cys)
c.1960G>T (p.Gly654Cys)
n.2411G>T
9g.104829008C=CA1869920187ABCA1c.2023G= (p.Gly675=)
n.196G=
c.1843G= (p.Gly615=)
c.2098G= (p.Gly700=)
c.1660G= (p.Gly554=)
c.1960G= (p.Gly654=)
n.2411G=
9g.104829008C>GCA374322208ABCA1c.2023G>C (p.Gly675Arg)
n.196G>C
c.1843G>C (p.Gly615Arg)
c.2098G>C (p.Gly700Arg)
c.1660G>C (p.Gly554Arg)
c.1960G>C (p.Gly654Arg)
n.2411G>C
 COSMIC
9g.104829008C>TCA374322209ABCA1c.2023G>A (p.Gly675Ser)
n.196G>A
c.1843G>A (p.Gly615Ser)
c.2098G>A (p.Gly700Ser)
c.1660G>A (p.Gly554Ser)
c.1960G>A (p.Gly654Ser)
n.2411G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829009C>ACA374322210ABCA1c.2022G>T (p.Met674Ile)
n.195G>T
c.1842G>T (p.Met614Ile)
c.2097G>T (p.Met699Ile)
c.1659G>T (p.Met553Ile)
c.1959G>T (p.Met653Ile)
n.2410G>T
9g.104829009C>GCA374322211ABCA1c.2022G>C (p.Met674Ile)
n.195G>C
c.1842G>C (p.Met614Ile)
c.2097G>C (p.Met699Ile)
c.1659G>C (p.Met553Ile)
c.1959G>C (p.Met653Ile)
n.2410G>C
 gnomAD v4
9g.104829009C>TCA374322212ABCA1c.2022G>A (p.Met674Ile)
n.195G>A
c.1842G>A (p.Met614Ile)
c.2097G>A (p.Met699Ile)
c.1659G>A (p.Met553Ile)
c.1959G>A (p.Met653Ile)
n.2410G>A
9g.104829010A>CCA374322215ABCA1c.2021T>G (p.Met674Arg)
n.194T>G
c.1841T>G (p.Met614Arg)
c.2096T>G (p.Met699Arg)
c.1658T>G (p.Met553Arg)
c.1958T>G (p.Met653Arg)
n.2409T>G
9g.104829010A>GCA374322214ABCA1c.2021T>C (p.Met674Thr)
n.194T>C
c.1841T>C (p.Met614Thr)
c.2096T>C (p.Met699Thr)
c.1658T>C (p.Met553Thr)
c.1958T>C (p.Met653Thr)
n.2409T>C
 gnomAD v4
9g.104829010A>TCA374322213ABCA1c.2021T>A (p.Met674Lys)
n.194T>A
c.1841T>A (p.Met614Lys)
c.2096T>A (p.Met699Lys)
c.1658T>A (p.Met553Lys)
c.1958T>A (p.Met653Lys)
n.2409T>A
 ClinVar
9g.104829011T>ACA374322216ABCA1c.2020A>T (p.Met674Leu)
n.193A>T
c.1840A>T (p.Met614Leu)
c.2095A>T (p.Met699Leu)
c.1657A>T (p.Met553Leu)
c.1957A>T (p.Met653Leu)
n.2408A>T
9g.104829011T>CCA374322217ABCA1c.2020A>G (p.Met674Val)
n.193A>G
c.1840A>G (p.Met614Val)
c.2095A>G (p.Met699Val)
c.1657A>G (p.Met553Val)
c.1957A>G (p.Met653Val)
n.2408A>G
9g.104829011T>GCA5168841ABCA1c.2020A>C (p.Met674Leu)
n.193A>C
c.1840A>C (p.Met614Leu)
c.2095A>C (p.Met699Leu)
c.1657A>C (p.Met553Leu)
c.1957A>C (p.Met653Leu)
n.2408A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829011T=CA1869920194ABCA1c.2020A= (p.Met674=)
n.193A=
c.1840A= (p.Met614=)
c.2095A= (p.Met699=)
c.1657A= (p.Met553=)
c.1957A= (p.Met653=)
n.2408A=
9g.104829012G>ACA466510392ABCA1c.2019C>T (p.Ile673=)
n.192C>T
c.1839C>T (p.Ile613=)
c.2094C>T (p.Ile698=)
c.1656C>T (p.Ile552=)
c.1956C>T (p.Ile652=)
n.2407C>T
 dbSNP
9g.104829012G>CCA374322218ABCA1c.2019C>G (p.Ile673Met)
n.192C>G
c.1839C>G (p.Ile613Met)
c.2094C>G (p.Ile698Met)
c.1656C>G (p.Ile552Met)
c.1956C>G (p.Ile652Met)
n.2407C>G
9g.104829012G=CA1869920200ABCA1c.2019C= (p.Ile673=)
n.192C=
c.1839C= (p.Ile613=)
c.2094C= (p.Ile698=)
c.1656C= (p.Ile552=)
c.1956C= (p.Ile652=)
n.2407C=
9g.104829012G>TCA466510394ABCA1c.2019C>A (p.Ile673=)
n.192C>A
c.1839C>A (p.Ile613=)
c.2094C>A (p.Ile698=)
c.1656C>A (p.Ile552=)
c.1956C>A (p.Ile652=)
n.2407C>A
9g.104829013A=CA1869920203ABCA1c.2018T= (p.Ile673=)
n.191T=
c.1838T= (p.Ile613=)
c.2093T= (p.Ile698=)
c.1655T= (p.Ile552=)
c.1955T= (p.Ile652=)
n.2406T=
9g.104829013A>CCA374322219ABCA1c.2018T>G (p.Ile673Ser)
n.191T>G
c.1838T>G (p.Ile613Ser)
c.2093T>G (p.Ile698Ser)
c.1655T>G (p.Ile552Ser)
c.1955T>G (p.Ile652Ser)
n.2406T>G
9g.104829013A>GCA374322220ABCA1c.2018T>C (p.Ile673Thr)
n.191T>C
c.1838T>C (p.Ile613Thr)
c.2093T>C (p.Ile698Thr)
c.1655T>C (p.Ile552Thr)
c.1955T>C (p.Ile652Thr)
n.2406T>C
 dbSNP gnomAD v3 gnomAD v4
9g.104829013A>TCA374322221ABCA1c.2018T>A (p.Ile673Asn)
n.191T>A
c.1838T>A (p.Ile613Asn)
c.2093T>A (p.Ile698Asn)
c.1655T>A (p.Ile552Asn)
c.1955T>A (p.Ile652Asn)
n.2406T>A
9g.104829014T>ACA374322222ABCA1c.2017A>T (p.Ile673Phe)
n.190A>T
c.1837A>T (p.Ile613Phe)
c.2092A>T (p.Ile698Phe)
c.1654A>T (p.Ile552Phe)
c.1954A>T (p.Ile652Phe)
n.2405A>T
9g.104829014T>CCA374322223ABCA1c.2017A>G (p.Ile673Val)
n.190A>G
c.1837A>G (p.Ile613Val)
c.2092A>G (p.Ile698Val)
c.1654A>G (p.Ile552Val)
c.1954A>G (p.Ile652Val)
n.2405A>G
 dbSNP gnomAD v3 gnomAD v4
9g.104829014T>GCA197395020ABCA1c.2017A>C (p.Ile673Leu)
n.190A>C
c.1837A>C (p.Ile613Leu)
c.2092A>C (p.Ile698Leu)
c.1654A>C (p.Ile552Leu)
c.1954A>C (p.Ile652Leu)
n.2405A>C
 dbSNP
9g.104829014T=CA1869920206ABCA1c.2017A= (p.Ile673=)
n.190A=
c.1837A= (p.Ile613=)
c.2092A= (p.Ile698=)
c.1654A= (p.Ile552=)
c.1954A= (p.Ile652=)
n.2405A=
9g.104829015C>ACA466510407ABCA1c.2016G>T (p.Arg672=)
n.189G>T
c.1836G>T (p.Arg612=)
c.2091G>T (p.Arg697=)
c.1653G>T (p.Arg551=)
c.1953G>T (p.Arg651=)
n.2404G>T
9g.104829015C>GCA466510409ABCA1c.2016G>C (p.Arg672=)
n.189G>C
c.1836G>C (p.Arg612=)
c.2091G>C (p.Arg697=)
c.1653G>C (p.Arg551=)
c.1953G>C (p.Arg651=)
n.2404G>C
9g.104829015C>TCA466510411ABCA1c.2016G>A (p.Arg672=)
n.189G>A
c.1836G>A (p.Arg612=)
c.2091G>A (p.Arg697=)
c.1653G>A (p.Arg551=)
c.1953G>A (p.Arg651=)
n.2404G>A
9g.104829016C>ACA374322224ABCA1c.2015G>T (p.Arg672Leu)
n.188G>T
c.1835G>T (p.Arg612Leu)
c.2090G>T (p.Arg697Leu)
c.1652G>T (p.Arg551Leu)
c.1952G>T (p.Arg651Leu)
n.2403G>T
9g.104829016C=CA1869920213ABCA1c.2015G= (p.Arg672=)
n.188G=
c.1835G= (p.Arg612=)
c.2090G= (p.Arg697=)
c.1652G= (p.Arg551=)
c.1952G= (p.Arg651=)
n.2403G=
9g.104829016C>GCA374322225ABCA1c.2015G>C (p.Arg672Pro)
n.188G>C
c.1835G>C (p.Arg612Pro)
c.2090G>C (p.Arg697Pro)
c.1652G>C (p.Arg551Pro)
c.1952G>C (p.Arg651Pro)
n.2403G>C
9g.104829016C>TCA5168842ABCA1c.2015G>A (p.Arg672Gln)
n.188G>A
c.1835G>A (p.Arg612Gln)
c.2090G>A (p.Arg697Gln)
c.1652G>A (p.Arg551Gln)
c.1952G>A (p.Arg651Gln)
n.2403G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829017G>ACA5168843ABCA1c.2014C>T (p.Arg672Trp)
n.187C>T
c.1834C>T (p.Arg612Trp)
c.2089C>T (p.Arg697Trp)
c.1651C>T (p.Arg551Trp)
c.1951C>T (p.Arg651Trp)
n.2402C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829017G>CCA374322226ABCA1c.2014C>G (p.Arg672Gly)
n.187C>G
c.1834C>G (p.Arg612Gly)
c.2089C>G (p.Arg697Gly)
c.1651C>G (p.Arg551Gly)
c.1951C>G (p.Arg651Gly)
n.2402C>G
9g.104829017G=CA1869920219ABCA1c.2014C= (p.Arg672=)
n.187C=
c.1834C= (p.Arg612=)
c.2089C= (p.Arg697=)
c.1651C= (p.Arg551=)
c.1951C= (p.Arg651=)
n.2402C=
9g.104829017G>TCA466510417ABCA1c.2014C>A (p.Arg672=)
n.187C>A
c.1834C>A (p.Arg612=)
c.2089C>A (p.Arg697=)
c.1651C>A (p.Arg551=)
c.1951C>A (p.Arg651=)
n.2402C>A
 gnomAD v4
9g.104829018C>ACA374322227ABCA1c.2013G>T (p.Met671Ile)
n.186G>T
c.1833G>T (p.Met611Ile)
c.2088G>T (p.Met696Ile)
c.1650G>T (p.Met550Ile)
c.1950G>T (p.Met650Ile)
n.2401G>T
9g.104829018C=CA1869920222ABCA1c.2013G= (p.Met671=)
n.186G=
c.1833G= (p.Met611=)
c.2088G= (p.Met696=)
c.1650G= (p.Met550=)
c.1950G= (p.Met650=)
n.2401G=
9g.104829018C>GCA374322228ABCA1c.2013G>C (p.Met671Ile)
n.186G>C
c.1833G>C (p.Met611Ile)
c.2088G>C (p.Met696Ile)
c.1650G>C (p.Met550Ile)
c.1950G>C (p.Met650Ile)
n.2401G>C
9g.104829018C>TCA374322229ABCA1c.2013G>A (p.Met671Ile)
n.186G>A
c.1833G>A (p.Met611Ile)
c.2088G>A (p.Met696Ile)
c.1650G>A (p.Met550Ile)
c.1950G>A (p.Met650Ile)
n.2401G>A
 dbSNP gnomAD v4

Number of alleles fetched