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
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
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
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
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.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
dbSNP ExAC gnomAD
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
gnomAD
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
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

Number of alleles fetched