Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
9g.104829019A>CCA374322230ABCA1c.2012T>G (p.Met671Arg)
n.185T>G
c.1832T>G (p.Met611Arg)
c.2087T>G (p.Met696Arg)
c.1649T>G (p.Met550Arg)
c.1949T>G (p.Met650Arg)
n.2400T>G
9g.104829019A>GCA374322231ABCA1c.2012T>C (p.Met671Thr)
n.185T>C
c.1832T>C (p.Met611Thr)
c.2087T>C (p.Met696Thr)
c.1649T>C (p.Met550Thr)
c.1949T>C (p.Met650Thr)
n.2400T>C
9g.104829019A>TCA374322232ABCA1c.2012T>A (p.Met671Lys)
n.185T>A
c.1832T>A (p.Met611Lys)
c.2087T>A (p.Met696Lys)
c.1649T>A (p.Met550Lys)
c.1949T>A (p.Met650Lys)
n.2400T>A
9g.104829020T>ACA5168844ABCA1c.2011A>T (p.Met671Leu)
n.184A>T
c.1831A>T (p.Met611Leu)
c.2086A>T (p.Met696Leu)
c.1648A>T (p.Met550Leu)
c.1948A>T (p.Met650Leu)
n.2399A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829020T>CCA374322233ABCA1c.2011A>G (p.Met671Val)
n.184A>G
c.1831A>G (p.Met611Val)
c.2086A>G (p.Met696Val)
c.1648A>G (p.Met550Val)
c.1948A>G (p.Met650Val)
n.2399A>G
 gnomAD v4
9g.104829020T>GCA374322234ABCA1c.2011A>C (p.Met671Leu)
n.184A>C
c.1831A>C (p.Met611Leu)
c.2086A>C (p.Met696Leu)
c.1648A>C (p.Met550Leu)
c.1948A>C (p.Met650Leu)
n.2399A>C
9g.104829020T=CA1869920223ABCA1c.2011A= (p.Met671=)
n.184A=
c.1831A= (p.Met611=)
c.2086A= (p.Met696=)
c.1648A= (p.Met550=)
c.1948A= (p.Met650=)
n.2399A=
9g.104829021G>ACA466510440ABCA1c.2010C>T (p.Thr670=)
n.183C>T
c.1830C>T (p.Thr610=)
c.2085C>T (p.Thr695=)
c.1647C>T (p.Thr549=)
c.1947C>T (p.Thr649=)
n.2398C>T
 dbSNP gnomAD v4
9g.104829021G>CCA466510442ABCA1c.2010C>G (p.Thr670=)
n.183C>G
c.1830C>G (p.Thr610=)
c.2085C>G (p.Thr695=)
c.1647C>G (p.Thr549=)
c.1947C>G (p.Thr649=)
n.2398C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.104829021G=CA1869920225ABCA1c.2010C= (p.Thr670=)
n.183C=
c.1830C= (p.Thr610=)
c.2085C= (p.Thr695=)
c.1647C= (p.Thr549=)
c.1947C= (p.Thr649=)
n.2398C=
9g.104829021G>TCA466510444ABCA1c.2010C>A (p.Thr670=)
n.183C>A
c.1830C>A (p.Thr610=)
c.2085C>A (p.Thr695=)
c.1647C>A (p.Thr549=)
c.1947C>A (p.Thr649=)
n.2398C>A
9g.104829022G>ACA374322235ABCA1c.2009C>T (p.Thr670Ile)
n.182C>T
c.1829C>T (p.Thr610Ile)
c.2084C>T (p.Thr695Ile)
c.1646C>T (p.Thr549Ile)
c.1946C>T (p.Thr649Ile)
n.2397C>T
9g.104829022G>CCA374322236ABCA1c.2009C>G (p.Thr670Ser)
n.182C>G
c.1829C>G (p.Thr610Ser)
c.2084C>G (p.Thr695Ser)
c.1646C>G (p.Thr549Ser)
c.1946C>G (p.Thr649Ser)
n.2397C>G
9g.104829022G>TCA374322237ABCA1c.2009C>A (p.Thr670Asn)
n.182C>A
c.1829C>A (p.Thr610Asn)
c.2084C>A (p.Thr695Asn)
c.1646C>A (p.Thr549Asn)
c.1946C>A (p.Thr649Asn)
n.2397C>A
 gnomAD v4
9g.104829023T>ACA374322240ABCA1c.2008A>T (p.Thr670Ser)
n.181A>T
c.1828A>T (p.Thr610Ser)
c.2083A>T (p.Thr695Ser)
c.1645A>T (p.Thr549Ser)
c.1945A>T (p.Thr649Ser)
n.2396A>T
9g.104829023T>CCA374322239ABCA1c.2008A>G (p.Thr670Ala)
n.181A>G
c.1828A>G (p.Thr610Ala)
c.2083A>G (p.Thr695Ala)
c.1645A>G (p.Thr549Ala)
c.1945A>G (p.Thr649Ala)
n.2396A>G
 gnomAD v4
9g.104829023T>GCA374322238ABCA1c.2008A>C (p.Thr670Pro)
n.181A>C
c.1828A>C (p.Thr610Pro)
c.2083A>C (p.Thr695Pro)
c.1645A>C (p.Thr549Pro)
c.1945A>C (p.Thr649Pro)
n.2396A>C
9g.104829024C>ACA374322241ABCA1c.2007G>T (p.Glu669Asp)
n.180G>T
c.1827G>T (p.Glu609Asp)
c.2082G>T (p.Glu694Asp)
c.1644G>T (p.Glu548Asp)
c.1944G>T (p.Glu648Asp)
n.2395G>T
9g.104829024C>GCA374322242ABCA1c.2007G>C (p.Glu669Asp)
n.180G>C
c.1827G>C (p.Glu609Asp)
c.2082G>C (p.Glu694Asp)
c.1644G>C (p.Glu548Asp)
c.1944G>C (p.Glu648Asp)
n.2395G>C
9g.104829024C>TCA466510458ABCA1c.2007G>A (p.Glu669=)
n.180G>A
c.1827G>A (p.Glu609=)
c.2082G>A (p.Glu694=)
c.1644G>A (p.Glu548=)
c.1944G>A (p.Glu648=)
n.2395G>A
9g.104829025T>ACA374322243ABCA1c.2006A>T (p.Glu669Val)
n.179A>T
c.1826A>T (p.Glu609Val)
c.2081A>T (p.Glu694Val)
c.1643A>T (p.Glu548Val)
c.1943A>T (p.Glu648Val)
n.2394A>T
9g.104829025T>CCA374322244ABCA1c.2006A>G (p.Glu669Gly)
n.179A>G
c.1826A>G (p.Glu609Gly)
c.2081A>G (p.Glu694Gly)
c.1643A>G (p.Glu548Gly)
c.1943A>G (p.Glu648Gly)
n.2394A>G
9g.104829025T>GCA374322245ABCA1c.2006A>C (p.Glu669Ala)
n.179A>C
c.1826A>C (p.Glu609Ala)
c.2081A>C (p.Glu694Ala)
c.1643A>C (p.Glu548Ala)
c.1943A>C (p.Glu648Ala)
n.2394A>C
9g.104829026C>ACA374322246ABCA1c.2005G>T (p.Glu669Ter)
n.178G>T
c.1825G>T (p.Glu609Ter)
c.2080G>T (p.Glu694Ter)
c.1642G>T (p.Glu548Ter)
c.1942G>T (p.Glu648Ter)
n.2393G>T
9g.104829026C=CA1869920227ABCA1c.2005G= (p.Glu669=)
n.178G=
c.1825G= (p.Glu609=)
c.2080G= (p.Glu694=)
c.1642G= (p.Glu548=)
c.1942G= (p.Glu648=)
n.2393G=
9g.104829026C>GCA374322247ABCA1c.2005G>C (p.Glu669Gln)
n.178G>C
c.1825G>C (p.Glu609Gln)
c.2080G>C (p.Glu694Gln)
c.1642G>C (p.Glu548Gln)
c.1942G>C (p.Glu648Gln)
n.2393G>C
 ClinVar dbSNP gnomAD v2
9g.104829026C>TCA374322248ABCA1c.2005G>A (p.Glu669Lys)
n.178G>A
c.1825G>A (p.Glu609Lys)
c.2080G>A (p.Glu694Lys)
c.1642G>A (p.Glu548Lys)
c.1942G>A (p.Glu648Lys)
n.2393G>A
9g.104829027T>ACA374322249ABCA1c.2004A>T (p.Lys668Asn)
n.177A>T
c.1824A>T (p.Lys608Asn)
c.2079A>T (p.Lys693Asn)
c.1641A>T (p.Lys547Asn)
c.1941A>T (p.Lys647Asn)
n.2392A>T
9g.104829027T>CCA466510470ABCA1c.2004A>G (p.Lys668=)
n.177A>G
c.1824A>G (p.Lys608=)
c.2079A>G (p.Lys693=)
c.1641A>G (p.Lys547=)
c.1941A>G (p.Lys647=)
n.2392A>G
9g.104829027T>GCA374322250ABCA1c.2004A>C (p.Lys668Asn)
n.177A>C
c.1824A>C (p.Lys608Asn)
c.2079A>C (p.Lys693Asn)
c.1641A>C (p.Lys547Asn)
c.1941A>C (p.Lys647Asn)
n.2392A>C
9g.104829028T>ACA374322251ABCA1c.2003A>T (p.Lys668Ile)
n.176A>T
c.1823A>T (p.Lys608Ile)
c.2078A>T (p.Lys693Ile)
c.1640A>T (p.Lys547Ile)
c.1940A>T (p.Lys647Ile)
n.2391A>T
9g.104829028T>CCA374322252ABCA1c.2003A>G (p.Lys668Arg)
n.176A>G
c.1823A>G (p.Lys608Arg)
c.2078A>G (p.Lys693Arg)
c.1640A>G (p.Lys547Arg)
c.1940A>G (p.Lys647Arg)
n.2391A>G
9g.104829028T>GCA374322253ABCA1c.2003A>C (p.Lys668Thr)
n.176A>C
c.1823A>C (p.Lys608Thr)
c.2078A>C (p.Lys693Thr)
c.1640A>C (p.Lys547Thr)
c.1940A>C (p.Lys647Thr)
n.2391A>C
9g.104829029T>ACA374322256ABCA1c.2002A>T (p.Lys668Ter)
n.175A>T
c.1822A>T (p.Lys608Ter)
c.2077A>T (p.Lys693Ter)
c.1639A>T (p.Lys547Ter)
c.1939A>T (p.Lys647Ter)
n.2390A>T
9g.104829029T>CCA374322255ABCA1c.2002A>G (p.Lys668Glu)
n.175A>G
c.1822A>G (p.Lys608Glu)
c.2077A>G (p.Lys693Glu)
c.1639A>G (p.Lys547Glu)
c.1939A>G (p.Lys647Glu)
n.2390A>G
9g.104829029T>GCA374322254ABCA1c.2002A>C (p.Lys668Gln)
n.175A>C
c.1822A>C (p.Lys608Gln)
c.2077A>C (p.Lys693Gln)
c.1639A>C (p.Lys547Gln)
c.1939A>C (p.Lys647Gln)
n.2390A>C
9g.104829030C>ACA466510484ABCA1c.2001G>T (p.Leu667=)
n.174G>T
c.1821G>T (p.Leu607=)
c.2076G>T (p.Leu692=)
c.1638G>T (p.Leu546=)
c.1938G>T (p.Leu646=)
n.2389G>T
9g.104829030C=CA1869920229ABCA1c.2001G= (p.Leu667=)
n.174G=
c.1821G= (p.Leu607=)
c.2076G= (p.Leu692=)
c.1638G= (p.Leu546=)
c.1938G= (p.Leu646=)
n.2389G=
9g.104829030C>GCA466510482ABCA1c.2001G>C (p.Leu667=)
n.174G>C
c.1821G>C (p.Leu607=)
c.2076G>C (p.Leu692=)
c.1638G>C (p.Leu546=)
c.1938G>C (p.Leu646=)
n.2389G>C
 ClinVar
9g.104829030C>TCA466510480ABCA1c.2001G>A (p.Leu667=)
n.174G>A
c.1821G>A (p.Leu607=)
c.2076G>A (p.Leu692=)
c.1638G>A (p.Leu546=)
c.1938G>A (p.Leu646=)
n.2389G>A
 dbSNP
9g.104829031A>CCA374322257ABCA1c.2000T>G (p.Leu667Arg)
n.173T>G
c.1820T>G (p.Leu607Arg)
c.2075T>G (p.Leu692Arg)
c.1637T>G (p.Leu546Arg)
c.1937T>G (p.Leu646Arg)
n.2388T>G
9g.104829031A>GCA374322258ABCA1c.2000T>C (p.Leu667Pro)
n.173T>C
c.1820T>C (p.Leu607Pro)
c.2075T>C (p.Leu692Pro)
c.1637T>C (p.Leu546Pro)
c.1937T>C (p.Leu646Pro)
n.2388T>C
9g.104829031A>TCA374322259ABCA1c.2000T>A (p.Leu667Gln)
n.173T>A
c.1820T>A (p.Leu607Gln)
c.2075T>A (p.Leu692Gln)
c.1637T>A (p.Leu546Gln)
c.1937T>A (p.Leu646Gln)
n.2388T>A
9g.104829032G>ACA466510489ABCA1c.1999C>T (p.Leu667=)
n.172C>T
c.1819C>T (p.Leu607=)
c.2074C>T (p.Leu692=)
c.1636C>T (p.Leu546=)
c.1936C>T (p.Leu646=)
n.2387C>T
9g.104829032G>CCA374322260ABCA1c.1999C>G (p.Leu667Val)
n.172C>G
c.1819C>G (p.Leu607Val)
c.2074C>G (p.Leu692Val)
c.1636C>G (p.Leu546Val)
c.1936C>G (p.Leu646Val)
n.2387C>G
9g.104829032G>TCA374322261ABCA1c.1999C>A (p.Leu667Met)
n.172C>A
c.1819C>A (p.Leu607Met)
c.2074C>A (p.Leu692Met)
c.1636C>A (p.Leu546Met)
c.1936C>A (p.Leu646Met)
n.2387C>A
 gnomAD v4
9g.104829033C>ACA466510494ABCA1c.1998G>T (p.Arg666=)
n.171G>T
c.1818G>T (p.Arg606=)
c.2073G>T (p.Arg691=)
c.1635G>T (p.Arg545=)
c.1935G>T (p.Arg645=)
n.2386G>T
9g.104829033C>GCA466510496ABCA1c.1998G>C (p.Arg666=)
n.171G>C
c.1818G>C (p.Arg606=)
c.2073G>C (p.Arg691=)
c.1635G>C (p.Arg545=)
c.1935G>C (p.Arg645=)
n.2386G>C
9g.104829033C>TCA466510498ABCA1c.1998G>A (p.Arg666=)
n.171G>A
c.1818G>A (p.Arg606=)
c.2073G>A (p.Arg691=)
c.1635G>A (p.Arg545=)
c.1935G>A (p.Arg645=)
n.2386G>A
9g.104829034dupCA2691056106ABCA1c.1998dup (p.Leu667AlafsTer18)
n.171dup
c.1818dup (p.Leu607AlafsTer18)
c.2073dup (p.Leu692AlafsTer18)
c.1635dup (p.Leu546AlafsTer18)
c.1935dup (p.Leu646AlafsTer18)
n.2386dup
 gnomAD v4
9g.104829034C>ACA374322262ABCA1c.1997G>T (p.Arg666Leu)
n.170G>T
c.1817G>T (p.Arg606Leu)
c.2072G>T (p.Arg691Leu)
c.1634G>T (p.Arg545Leu)
c.1934G>T (p.Arg645Leu)
n.2385G>T
9g.104829034C=CA1869920230ABCA1c.1997G= (p.Arg666=)
n.170G=
c.1817G= (p.Arg606=)
c.2072G= (p.Arg691=)
c.1634G= (p.Arg545=)
c.1934G= (p.Arg645=)
n.2385G=
9g.104829034C>GCA374322263ABCA1c.1997G>C (p.Arg666Pro)
n.170G>C
c.1817G>C (p.Arg606Pro)
c.2072G>C (p.Arg691Pro)
c.1634G>C (p.Arg545Pro)
c.1934G>C (p.Arg645Pro)
n.2385G>C
9g.104829034C>TCA5168845ABCA1c.1997G>A (p.Arg666Gln)
n.170G>A
c.1817G>A (p.Arg606Gln)
c.2072G>A (p.Arg691Gln)
c.1634G>A (p.Arg545Gln)
c.1934G>A (p.Arg645Gln)
n.2385G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829035G>ACA5168846ABCA1c.1996C>T (p.Arg666Trp)
n.169C>T
c.1816C>T (p.Arg606Trp)
c.2071C>T (p.Arg691Trp)
c.1633C>T (p.Arg545Trp)
c.1933C>T (p.Arg645Trp)
n.2384C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829035G>CCA374322264ABCA1c.1996C>G (p.Arg666Gly)
n.169C>G
c.1816C>G (p.Arg606Gly)
c.2071C>G (p.Arg691Gly)
c.1633C>G (p.Arg545Gly)
c.1933C>G (p.Arg645Gly)
n.2384C>G
9g.104829035G=CA1869920231ABCA1c.1996C= (p.Arg666=)
n.169C=
c.1816C= (p.Arg606=)
c.2071C= (p.Arg691=)
c.1633C= (p.Arg545=)
c.1933C= (p.Arg645=)
n.2384C=
9g.104829035G>TCA197395053ABCA1c.1996C>A (p.Arg666=)
n.169C>A
c.1816C>A (p.Arg606=)
c.2071C>A (p.Arg691=)
c.1633C>A (p.Arg545=)
c.1933C>A (p.Arg645=)
n.2384C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829036T>ACA466510509ABCA1c.1995A>T (p.Ala665=)
n.168A>T
c.1815A>T (p.Ala605=)
c.2070A>T (p.Ala690=)
c.1632A>T (p.Ala544=)
c.1932A>T (p.Ala644=)
n.2383A>T
9g.104829036T>CCA197395056ABCA1c.1995A>G (p.Ala665=)
n.168A>G
c.1815A>G (p.Ala605=)
c.2070A>G (p.Ala690=)
c.1632A>G (p.Ala544=)
c.1932A>G (p.Ala644=)
n.2383A>G
 dbSNP
9g.104829036T>GCA466510511ABCA1c.1995A>C (p.Ala665=)
n.168A>C
c.1815A>C (p.Ala605=)
c.2070A>C (p.Ala690=)
c.1632A>C (p.Ala544=)
c.1932A>C (p.Ala644=)
n.2383A>C
9g.104829036T=CA1869920239ABCA1c.1995A= (p.Ala665=)
n.168A=
c.1815A= (p.Ala605=)
c.2070A= (p.Ala690=)
c.1632A= (p.Ala544=)
c.1932A= (p.Ala644=)
n.2383A=
9g.104829037G>ACA5168847ABCA1c.1994C>T (p.Ala665Val)
n.167C>T
c.1814C>T (p.Ala605Val)
c.2069C>T (p.Ala690Val)
c.1631C>T (p.Ala544Val)
c.1931C>T (p.Ala644Val)
n.2382C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829037G>CCA374322265ABCA1c.1994C>G (p.Ala665Gly)
n.167C>G
c.1814C>G (p.Ala605Gly)
c.2069C>G (p.Ala690Gly)
c.1631C>G (p.Ala544Gly)
c.1931C>G (p.Ala644Gly)
n.2382C>G
 dbSNP gnomAD v2
9g.104829037G=CA1869920241ABCA1c.1994C= (p.Ala665=)
n.167C=
c.1814C= (p.Ala605=)
c.2069C= (p.Ala690=)
c.1631C= (p.Ala544=)
c.1931C= (p.Ala644=)
n.2382C=
9g.104829037G>TCA374322266ABCA1c.1994C>A (p.Ala665Glu)
n.167C>A
c.1814C>A (p.Ala605Glu)
c.2069C>A (p.Ala690Glu)
c.1631C>A (p.Ala544Glu)
c.1931C>A (p.Ala644Glu)
n.2382C>A
9g.104829038C>ACA374322268ABCA1c.1993G>T (p.Ala665Ser)
n.166G>T
c.1813G>T (p.Ala605Ser)
c.2068G>T (p.Ala690Ser)
c.1630G>T (p.Ala544Ser)
c.1930G>T (p.Ala644Ser)
n.2381G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829038C=CA1869920248ABCA1c.1993G= (p.Ala665=)
n.166G=
c.1813G= (p.Ala605=)
c.2068G= (p.Ala690=)
c.1630G= (p.Ala544=)
c.1930G= (p.Ala644=)
n.2381G=
9g.104829038C>GCA374322269ABCA1c.1993G>C (p.Ala665Pro)
n.166G>C
c.1813G>C (p.Ala605Pro)
c.2068G>C (p.Ala690Pro)
c.1630G>C (p.Ala544Pro)
c.1930G>C (p.Ala644Pro)
n.2381G>C
9g.104829038C>TCA374322267ABCA1c.1993G>A (p.Ala665Thr)
n.166G>A
c.1813G>A (p.Ala605Thr)
c.2068G>A (p.Ala690Thr)
c.1630G>A (p.Ala544Thr)
c.1930G>A (p.Ala644Thr)
n.2381G>A
9g.104829039C>ACA374322270ABCA1c.1992G>T (p.Glu664Asp)
n.165G>T
c.1812G>T (p.Glu604Asp)
c.2067G>T (p.Glu689Asp)
c.1629G>T (p.Glu543Asp)
c.1929G>T (p.Glu643Asp)
n.2380G>T
9g.104829039C=CA1869920272ABCA1c.1992G= (p.Glu664=)
n.165G=
c.1812G= (p.Glu604=)
c.2067G= (p.Glu689=)
c.1629G= (p.Glu543=)
c.1929G= (p.Glu643=)
n.2380G=
9g.104829039C>GCA374322271ABCA1c.1992G>C (p.Glu664Asp)
n.165G>C
c.1812G>C (p.Glu604Asp)
c.2067G>C (p.Glu689Asp)
c.1629G>C (p.Glu543Asp)
c.1929G>C (p.Glu643Asp)
n.2380G>C
9g.104829039C>TCA5168848ABCA1c.1992G>A (p.Glu664=)
n.165G>A
c.1812G>A (p.Glu604=)
c.2067G>A (p.Glu689=)
c.1629G>A (p.Glu543=)
c.1929G>A (p.Glu643=)
n.2380G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.104829040T>ACA374322272ABCA1c.1991A>T (p.Glu664Val)
n.164A>T
c.1811A>T (p.Glu604Val)
c.2066A>T (p.Glu689Val)
c.1628A>T (p.Glu543Val)
c.1928A>T (p.Glu643Val)
n.2379A>T
9g.104829040T>CCA374322273ABCA1c.1991A>G (p.Glu664Gly)
n.164A>G
c.1811A>G (p.Glu604Gly)
c.2066A>G (p.Glu689Gly)
c.1628A>G (p.Glu543Gly)
c.1928A>G (p.Glu643Gly)
n.2379A>G
9g.104829040T>GCA374322274ABCA1c.1991A>C (p.Glu664Ala)
n.164A>C
c.1811A>C (p.Glu604Ala)
c.2066A>C (p.Glu689Ala)
c.1628A>C (p.Glu543Ala)
c.1928A>C (p.Glu643Ala)
n.2379A>C
9g.104829041C>ACA374322275ABCA1c.1990G>T (p.Glu664Ter)
n.163G>T
c.1810G>T (p.Glu604Ter)
c.2065G>T (p.Glu689Ter)
c.1627G>T (p.Glu543Ter)
c.1927G>T (p.Glu643Ter)
n.2378G>T
9g.104829041C>GCA374322276ABCA1c.1990G>C (p.Glu664Gln)
n.163G>C
c.1810G>C (p.Glu604Gln)
c.2065G>C (p.Glu689Gln)
c.1627G>C (p.Glu543Gln)
c.1927G>C (p.Glu643Gln)
n.2378G>C
9g.104829041C>TCA374322277ABCA1c.1990G>A (p.Glu664Lys)
n.163G>A
c.1810G>A (p.Glu604Lys)
c.2065G>A (p.Glu689Lys)
c.1627G>A (p.Glu543Lys)
c.1927G>A (p.Glu643Lys)
n.2378G>A
9g.104829042C>ACA374322278ABCA1c.1989G>T (p.Lys663Asn)
n.162G>T
c.1809G>T (p.Lys603Asn)
c.2064G>T (p.Lys688Asn)
c.1626G>T (p.Lys542Asn)
c.1926G>T (p.Lys642Asn)
n.2377G>T
 gnomAD v4
9g.104829042C>GCA374322279ABCA1c.1989G>C (p.Lys663Asn)
n.162G>C
c.1809G>C (p.Lys603Asn)
c.2064G>C (p.Lys688Asn)
c.1626G>C (p.Lys542Asn)
c.1926G>C (p.Lys642Asn)
n.2377G>C
9g.104829042C>TCA466510537ABCA1c.1989G>A (p.Lys663=)
n.162G>A
c.1809G>A (p.Lys603=)
c.2064G>A (p.Lys688=)
c.1626G>A (p.Lys542=)
c.1926G>A (p.Lys642=)
n.2377G>A
 gnomAD v4
9g.104829043T>ACA374322282ABCA1c.1988A>T (p.Lys663Met)
n.161A>T
c.1808A>T (p.Lys603Met)
c.2063A>T (p.Lys688Met)
c.1625A>T (p.Lys542Met)
c.1925A>T (p.Lys642Met)
n.2376A>T
9g.104829043T>CCA374322281ABCA1c.1988A>G (p.Lys663Arg)
n.161A>G
c.1808A>G (p.Lys603Arg)
c.2063A>G (p.Lys688Arg)
c.1625A>G (p.Lys542Arg)
c.1925A>G (p.Lys642Arg)
n.2376A>G
9g.104829043T>GCA374322280ABCA1c.1988A>C (p.Lys663Thr)
n.161A>C
c.1808A>C (p.Lys603Thr)
c.2063A>C (p.Lys688Thr)
c.1625A>C (p.Lys542Thr)
c.1925A>C (p.Lys642Thr)
n.2376A>C
9g.104829044T>ACA374322283ABCA1c.1987A>T (p.Lys663Ter)
n.160A>T
c.1807A>T (p.Lys603Ter)
c.2062A>T (p.Lys688Ter)
c.1624A>T (p.Lys542Ter)
c.1924A>T (p.Lys642Ter)
n.2375A>T
9g.104829044T>CCA197395067ABCA1c.1987A>G (p.Lys663Glu)
n.160A>G
c.1807A>G (p.Lys603Glu)
c.2062A>G (p.Lys688Glu)
c.1624A>G (p.Lys542Glu)
c.1924A>G (p.Lys642Glu)
n.2375A>G
 dbSNP gnomAD v2 gnomAD v4
9g.104829044T>GCA374322284ABCA1c.1987A>C (p.Lys663Gln)
n.160A>C
c.1807A>C (p.Lys603Gln)
c.2062A>C (p.Lys688Gln)
c.1624A>C (p.Lys542Gln)
c.1924A>C (p.Lys642Gln)
n.2375A>C
9g.104829044T=CA1869920278ABCA1c.1987A= (p.Lys663=)
n.160A=
c.1807A= (p.Lys603=)
c.2062A= (p.Lys688=)
c.1624A= (p.Lys542=)
c.1924A= (p.Lys642=)
n.2375A=
9g.104829045C>ACA374322285ABCA1c.1986G>T (p.Glu662Asp)
n.159G>T
c.1806G>T (p.Glu602Asp)
c.2061G>T (p.Glu687Asp)
c.1623G>T (p.Glu541Asp)
c.1923G>T (p.Glu641Asp)
n.2374G>T
9g.104829045C>GCA374322286ABCA1c.1986G>C (p.Glu662Asp)
n.159G>C
c.1806G>C (p.Glu602Asp)
c.2061G>C (p.Glu687Asp)
c.1623G>C (p.Glu541Asp)
c.1923G>C (p.Glu641Asp)
n.2374G>C
9g.104829045C>TCA466510554ABCA1c.1986G>A (p.Glu662=)
n.159G>A
c.1806G>A (p.Glu602=)
c.2061G>A (p.Glu687=)
c.1623G>A (p.Glu541=)
c.1923G>A (p.Glu641=)
n.2374G>A
9g.104829046T>ACA374322287ABCA1c.1985A>T (p.Glu662Val)
n.158A>T
c.1805A>T (p.Glu602Val)
c.2060A>T (p.Glu687Val)
c.1622A>T (p.Glu541Val)
c.1922A>T (p.Glu641Val)
n.2373A>T
 dbSNP
9g.104829046T>CCA374322288ABCA1c.1985A>G (p.Glu662Gly)
n.158A>G
c.1805A>G (p.Glu602Gly)
c.2060A>G (p.Glu687Gly)
c.1622A>G (p.Glu541Gly)
c.1922A>G (p.Glu641Gly)
n.2373A>G
9g.104829046T>GCA374322289ABCA1c.1985A>C (p.Glu662Ala)
n.158A>C
c.1805A>C (p.Glu602Ala)
c.2060A>C (p.Glu687Ala)
c.1622A>C (p.Glu541Ala)
c.1922A>C (p.Glu641Ala)
n.2373A>C
9g.104829046T=CA1869920279ABCA1c.1985A= (p.Glu662=)
n.158A=
c.1805A= (p.Glu602=)
c.2060A= (p.Glu687=)
c.1622A= (p.Glu541=)
c.1922A= (p.Glu641=)
n.2373A=
9g.104829047C>ACA374322290ABCA1c.1984G>T (p.Glu662Ter)
n.157G>T
c.1804G>T (p.Glu602Ter)
c.2059G>T (p.Glu687Ter)
c.1621G>T (p.Glu541Ter)
c.1921G>T (p.Glu641Ter)
n.2372G>T
 COSMIC
9g.104829047C>GCA374322291ABCA1c.1984G>C (p.Glu662Gln)
n.157G>C
c.1804G>C (p.Glu602Gln)
c.2059G>C (p.Glu687Gln)
c.1621G>C (p.Glu541Gln)
c.1921G>C (p.Glu641Gln)
n.2372G>C
9g.104829047C>TCA374322292ABCA1c.1984G>A (p.Glu662Lys)
n.157G>A
c.1804G>A (p.Glu602Lys)
c.2059G>A (p.Glu687Lys)
c.1621G>A (p.Glu541Lys)
c.1921G>A (p.Glu641Lys)
n.2372G>A
9g.104829048A=CA1869920281ABCA1c.1983T= (p.Tyr661=)
n.156T=
c.1803T= (p.Tyr601=)
c.2058T= (p.Tyr686=)
c.1620T= (p.Tyr540=)
c.1920T= (p.Tyr640=)
n.2371T=
9g.104829048A>CCA374322293ABCA1c.1983T>G (p.Tyr661Ter)
n.156T>G
c.1803T>G (p.Tyr601Ter)
c.2058T>G (p.Tyr686Ter)
c.1620T>G (p.Tyr540Ter)
c.1920T>G (p.Tyr640Ter)
n.2371T>G
 dbSNP gnomAD v3 gnomAD v4
9g.104829048A>GCA466510565ABCA1c.1983T>C (p.Tyr661=)
n.156T>C
c.1803T>C (p.Tyr601=)
c.2058T>C (p.Tyr686=)
c.1620T>C (p.Tyr540=)
c.1920T>C (p.Tyr640=)
n.2371T>C
 dbSNP
9g.104829048A>TCA374322294ABCA1c.1983T>A (p.Tyr661Ter)
n.156T>A
c.1803T>A (p.Tyr601Ter)
c.2058T>A (p.Tyr686Ter)
c.1620T>A (p.Tyr540Ter)
c.1920T>A (p.Tyr640Ter)
n.2371T>A
9g.104829049T>ACA374322296ABCA1c.1982A>T (p.Tyr661Phe)
n.155A>T
c.1802A>T (p.Tyr601Phe)
c.2057A>T (p.Tyr686Phe)
c.1619A>T (p.Tyr540Phe)
c.1919A>T (p.Tyr640Phe)
n.2370A>T
9g.104829049T>CCA374322297ABCA1c.1982A>G (p.Tyr661Cys)
n.155A>G
c.1802A>G (p.Tyr601Cys)
c.2057A>G (p.Tyr686Cys)
c.1619A>G (p.Tyr540Cys)
c.1919A>G (p.Tyr640Cys)
n.2370A>G
 gnomAD v4
9g.104829049T>GCA374322295ABCA1c.1982A>C (p.Tyr661Ser)
n.155A>C
c.1802A>C (p.Tyr601Ser)
c.2057A>C (p.Tyr686Ser)
c.1619A>C (p.Tyr540Ser)
c.1919A>C (p.Tyr640Ser)
n.2370A>C
9g.104829050A=CA1869920284ABCA1c.1981T= (p.Tyr661=)
n.154T=
c.1801T= (p.Tyr601=)
c.2056T= (p.Tyr686=)
c.1618T= (p.Tyr540=)
c.1918T= (p.Tyr640=)
n.2369T=
9g.104829050A>CCA374322299ABCA1c.1981T>G (p.Tyr661Asp)
n.154T>G
c.1801T>G (p.Tyr601Asp)
c.2056T>G (p.Tyr686Asp)
c.1618T>G (p.Tyr540Asp)
c.1918T>G (p.Tyr640Asp)
n.2369T>G
 dbSNP gnomAD v4
9g.104829050A>GCA374322298ABCA1c.1981T>C (p.Tyr661His)
n.154T>C
c.1801T>C (p.Tyr601His)
c.2056T>C (p.Tyr686His)
c.1618T>C (p.Tyr540His)
c.1918T>C (p.Tyr640His)
n.2369T>C
9g.104829050A>TCA374322300ABCA1c.1981T>A (p.Tyr661Asn)
n.154T>A
c.1801T>A (p.Tyr601Asn)
c.2056T>A (p.Tyr686Asn)
c.1618T>A (p.Tyr540Asn)
c.1918T>A (p.Tyr640Asn)
n.2369T>A
9g.104829051C>ACA466510579ABCA1c.1980G>T (p.Val660=)
n.153G>T
c.1800G>T (p.Val600=)
c.2055G>T (p.Val685=)
c.1617G>T (p.Val539=)
c.1917G>T (p.Val639=)
n.2368G>T
9g.104829051C=CA1869920286ABCA1c.1980G= (p.Val660=)
n.153G=
c.1800G= (p.Val600=)
c.2055G= (p.Val685=)
c.1617G= (p.Val539=)
c.1917G= (p.Val639=)
n.2368G=
9g.104829051C>GCA466510575ABCA1c.1980G>C (p.Val660=)
n.153G>C
c.1800G>C (p.Val600=)
c.2055G>C (p.Val685=)
c.1617G>C (p.Val539=)
c.1917G>C (p.Val639=)
n.2368G>C
9g.104829051C>TCA466510577ABCA1c.1980G>A (p.Val660=)
n.153G>A
c.1800G>A (p.Val600=)
c.2055G>A (p.Val685=)
c.1617G>A (p.Val539=)
c.1917G>A (p.Val639=)
n.2368G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.104829051_104829052delinsCACA1869920285ABCA1c.1979_1980delinsTG (p.Val660=)
n.152_153delinsTG
c.1799_1800delinsTG (p.Val600=)
c.2054_2055delinsTG (p.Val685=)
c.1616_1617delinsTG (p.Val539=)
c.1916_1917delinsTG (p.Val639=)
n.2367_2368delinsTG
9g.104829052delCA197395069ABCA1c.1979del (p.Val660GlyfsTer8)
n.152del
c.1799del (p.Val600GlyfsTer8)
c.2054del (p.Val685GlyfsTer8)
c.1616del (p.Val539GlyfsTer8)
c.1916del (p.Val639GlyfsTer8)
n.2367del
 dbSNP
9g.104829052A>CCA374322301ABCA1c.1979T>G (p.Val660Gly)
n.152T>G
c.1799T>G (p.Val600Gly)
c.2054T>G (p.Val685Gly)
c.1616T>G (p.Val539Gly)
c.1916T>G (p.Val639Gly)
n.2367T>G
9g.104829052A>GCA374322303ABCA1c.1979T>C (p.Val660Ala)
n.152T>C
c.1799T>C (p.Val600Ala)
c.2054T>C (p.Val685Ala)
c.1616T>C (p.Val539Ala)
c.1916T>C (p.Val639Ala)
n.2367T>C
9g.104829052A>TCA374322302ABCA1c.1979T>A (p.Val660Glu)
n.152T>A
c.1799T>A (p.Val600Glu)
c.2054T>A (p.Val685Glu)
c.1616T>A (p.Val539Glu)
c.1916T>A (p.Val639Glu)
n.2367T>A
9g.104829053C>ACA5168850ABCA1c.1978G>T (p.Val660Leu)
n.151G>T
c.1798G>T (p.Val600Leu)
c.2053G>T (p.Val685Leu)
c.1615G>T (p.Val539Leu)
c.1915G>T (p.Val639Leu)
n.2366G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.104829053C=CA1869920291ABCA1c.1978G= (p.Val660=)
n.151G=
c.1798G= (p.Val600=)
c.2053G= (p.Val685=)
c.1615G= (p.Val539=)
c.1915G= (p.Val639=)
n.2366G=
9g.104829053C>GCA374322304ABCA1c.1978G>C (p.Val660Leu)
n.151G>C
c.1798G>C (p.Val600Leu)
c.2053G>C (p.Val685Leu)
c.1615G>C (p.Val539Leu)
c.1915G>C (p.Val639Leu)
n.2366G>C
 dbSNP
9g.104829053C>TCA5168849ABCA1c.1978G>A (p.Val660Met)
n.151G>A
c.1798G>A (p.Val600Met)
c.2053G>A (p.Val685Met)
c.1615G>A (p.Val539Met)
c.1915G>A (p.Val639Met)
n.2366G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched