Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.104828948_104828951delinsCAAG | CA1869920028 | ABCA1 | c.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 | |
9 | g.104828953_104828955del | CA120479 | ABCA1 | c.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 |
9 | g.104828951G>A | CA374322079 | ABCA1 | c.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 |
9 | g.104828951G>C | CA374322077 | ABCA1 | c.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 | |
9 | g.104828951G= | CA1869920044 | ABCA1 | c.2080C= (p.Leu694=) n.253C= c.1900C= (p.Leu634=) c.2155C= (p.Leu719=) c.1717C= (p.Leu573=) c.2017C= (p.Leu673=) n.2468C= | |
9 | g.104828951G>T | CA374322078 | ABCA1 | c.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 |
9 | g.104828952A>C | CA466510121 | ABCA1 | c.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 | |
9 | g.104828952A>G | CA466510125 | ABCA1 | c.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 | |
9 | g.104828952A>T | CA466510122 | ABCA1 | c.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 | |
9 | g.104828953A>C | CA374322080 | ABCA1 | c.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 | |
9 | g.104828953A>G | CA374322081 | ABCA1 | c.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 | |
9 | g.104828953A>T | CA374322082 | ABCA1 | c.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 | |
9 | g.104828954G>A | CA5168832 | ABCA1 | c.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 |
9 | g.104828954G>C | CA374322083 | ABCA1 | c.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 | |
9 | g.104828954G= | CA1869920060 | ABCA1 | c.2077C= (p.Leu693=) n.250C= c.1897C= (p.Leu633=) c.2152C= (p.Leu718=) c.1714C= (p.Leu572=) c.2014C= (p.Leu672=) n.2465C= | |
9 | g.104828954G>T | CA374322084 | ABCA1 | c.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 | |
9 | g.104828955A>C | CA466510136 | ABCA1 | c.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 | |
9 | g.104828955A>G | CA466510138 | ABCA1 | c.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 | |
9 | g.104828955A>T | CA466510140 | ABCA1 | c.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 | |
9 | g.104828956G>A | CA374322085 | ABCA1 | c.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 |
9 | g.104828956G>C | CA374322086 | ABCA1 | c.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 | |
9 | g.104828956G>T | CA374322087 | ABCA1 | c.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 | |
9 | g.104828957G>A | CA374322088 | ABCA1 | c.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 | |
9 | g.104828957G>C | CA374322089 | ABCA1 | c.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 | |
9 | g.104828957G>T | CA374322090 | ABCA1 | c.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 |
9 | g.104828958A>C | CA374322091 | ABCA1 | c.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 | |
9 | g.104828958A>G | CA466510152 | ABCA1 | c.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 | |
9 | g.104828958A>T | CA466510154 | ABCA1 | c.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 | |
9 | g.104828959dup | CA2579406926 | ABCA1 | c.2073dup (p.Pro692SerfsTer23) n.246dup c.1893dup (p.Pro632SerfsTer23) c.2148dup (p.Pro717SerfsTer23) c.1710dup (p.Pro571SerfsTer23) c.2010dup (p.Pro671SerfsTer23) n.2461dup | |
9 | g.104828959A>C | CA374322094 | ABCA1 | c.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 | |
9 | g.104828959A>G | CA374322092 | ABCA1 | c.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 | |
9 | g.104828959A>T | CA374322093 | ABCA1 | c.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 | |
9 | g.104828960T>A | CA374322095 | ABCA1 | c.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 | |
9 | g.104828960T>C | CA374322096 | ABCA1 | c.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 | |
9 | g.104828960T>G | CA374322097 | ABCA1 | c.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 | |
9 | g.104828961G>A | CA466510168 | ABCA1 | c.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 |
9 | g.104828961G>C | CA466510165 | ABCA1 | c.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 | |
9 | g.104828961G>T | CA466510164 | ABCA1 | c.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 | |
9 | g.104828962A>C | CA374322098 | ABCA1 | c.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 | |
9 | g.104828962A>G | CA374322099 | ABCA1 | c.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 | |
9 | g.104828962A>T | CA374322100 | ABCA1 | c.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 | |
9 | g.104828963G>A | CA374322102 | ABCA1 | c.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 | |
9 | g.104828963G>C | CA5168833 | ABCA1 | c.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 |
9 | g.104828963G= | CA1869920065 | ABCA1 | c.2068C= (p.Leu690=) n.241C= c.1888C= (p.Leu630=) c.2143C= (p.Leu715=) c.1705C= (p.Leu569=) c.2005C= (p.Leu669=) n.2456C= | |
9 | g.104828963G>T | CA374322101 | ABCA1 | c.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 | |
9 | g.104828964G>A | CA466510179 | ABCA1 | c.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 |
9 | g.104828964G>C | CA5168834 | ABCA1 | c.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 |
9 | g.104828964G= | CA1869920076 | ABCA1 | c.2067C= (p.Ser689=) n.240C= c.1887C= (p.Ser629=) c.2142C= (p.Ser714=) c.1704C= (p.Ser568=) c.2004C= (p.Ser668=) n.2455C= | |
9 | g.104828964G>T | CA374322103 | ABCA1 | c.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 | |
9 | g.104828965C>A | CA374322104 | ABCA1 | c.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 |
9 | g.104828965C>G | CA374322105 | ABCA1 | c.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 | |
9 | g.104828965C>T | CA374322106 | ABCA1 | c.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 | |
9 | g.104828966T>A | CA374322109 | ABCA1 | c.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 | |
9 | g.104828966T>C | CA374322107 | ABCA1 | c.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 | |
9 | g.104828966T>G | CA374322108 | ABCA1 | c.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 | |
9 | g.104828967A>C | CA374322110 | ABCA1 | c.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 | |
9 | g.104828967A>G | CA466510193 | ABCA1 | c.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 | |
9 | g.104828967A>T | CA374322111 | ABCA1 | c.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 | |
9 | g.104828968C>A | CA197394979 | ABCA1 | c.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 |
9 | g.104828968C= | CA1869920081 | ABCA1 | c.2063G= (p.Ser688=) n.236G= c.1883G= (p.Ser628=) c.2138G= (p.Ser713=) c.1700G= (p.Ser567=) c.2000G= (p.Ser667=) n.2451G= | |
9 | g.104828968C>G | CA374322112 | ABCA1 | c.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 | |
9 | g.104828968C>T | CA374322113 | ABCA1 | c.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 |
9 | g.104828969T>A | CA374322114 | ABCA1 | c.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 | |
9 | g.104828969T>C | CA374322115 | ABCA1 | c.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 | |
9 | g.104828969T>G | CA374322116 | ABCA1 | c.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 | |
9 | g.104828970A>C | CA374322117 | ABCA1 | c.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 | |
9 | g.104828970A>G | CA466510206 | ABCA1 | c.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 |
9 | g.104828970A>T | CA466510208 | ABCA1 | c.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 | |
9 | g.104828971A= | CA1869920085 | ABCA1 | c.2060T= (p.Ile687=) n.233T= c.1880T= (p.Ile627=) c.2135T= (p.Ile712=) c.1697T= (p.Ile566=) c.1997T= (p.Ile666=) n.2448T= | |
9 | g.104828971A>C | CA374322118 | ABCA1 | c.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 |
9 | g.104828971A>G | CA374322119 | ABCA1 | c.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 | |
9 | g.104828971A>T | CA374322120 | ABCA1 | c.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 | |
9 | g.104828972T>A | CA374322123 | ABCA1 | c.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 |
9 | g.104828972T>C | CA374322121 | ABCA1 | c.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 |
9 | g.104828972T>G | CA374322122 | ABCA1 | c.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 | |
9 | g.104828972T= | CA1869920089 | ABCA1 | c.2059A= (p.Ile687=) n.232A= c.1879A= (p.Ile627=) c.2134A= (p.Ile712=) c.1696A= (p.Ile566=) c.1996A= (p.Ile666=) n.2447A= | |
9 | g.104828973G>A | CA466510220 | ABCA1 | c.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 | |
9 | g.104828973G>C | CA374322124 | ABCA1 | c.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 | |
9 | g.104828973G= | CA1869920093 | ABCA1 | c.2058C= (p.Phe686=) n.231C= c.1878C= (p.Phe626=) c.2133C= (p.Phe711=) c.1695C= (p.Phe565=) c.1995C= (p.Phe665=) n.2446C= | |
9 | g.104828973G>T | CA5168835 | ABCA1 | c.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 |
9 | g.104828974A>C | CA374322125 | ABCA1 | c.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 | |
9 | g.104828974A>G | CA374322126 | ABCA1 | c.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 | |
9 | g.104828974A>T | CA374322127 | ABCA1 | c.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 | |
9 | g.104828975A>C | CA374322130 | ABCA1 | c.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 | |
9 | g.104828975A>G | CA374322129 | ABCA1 | c.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 | |
9 | g.104828975A>T | CA374322128 | ABCA1 | c.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 | |
9 | g.104828976C>A | CA5168836 | ABCA1 | c.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 |
9 | g.104828976C= | CA1869920103 | ABCA1 | c.2055G= (p.Trp685=) n.228G= c.1875G= (p.Trp625=) c.2130G= (p.Trp710=) c.1692G= (p.Trp564=) c.1992G= (p.Trp664=) n.2443G= | |
9 | g.104828976C>G | CA374322131 | ABCA1 | c.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 | |
9 | g.104828976C>T | CA374322132 | ABCA1 | c.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 |
9 | g.104828977C>A | CA374322133 | ABCA1 | c.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 | |
9 | g.104828977C>G | CA374322134 | ABCA1 | c.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 | |
9 | g.104828977C>T | CA374322135 | ABCA1 | c.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 | |
9 | g.104828978A= | CA1869920108 | ABCA1 | c.2053T= (p.Trp685=) n.226T= c.1873T= (p.Trp625=) c.2128T= (p.Trp710=) c.1690T= (p.Trp564=) c.1990T= (p.Trp664=) n.2441T= | |
9 | g.104828978A>C | CA374322138 | ABCA1 | c.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 | |
9 | g.104828978A>G | CA374322136 | ABCA1 | c.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 | |
9 | g.104828978A>T | CA374322137 | ABCA1 | c.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 |
9 | g.104828979G>A | CA466510244 | ABCA1 | c.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 | |
9 | g.104828979G>C | CA374322139 | ABCA1 | c.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 |
9 | g.104828979G>T | CA374322140 | ABCA1 | c.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 | |
9 | g.104828980C>A | CA374322141 | ABCA1 | c.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 |
9 | g.104828980C= | CA1869920111 | ABCA1 | c.2051G= (p.Ser684=) n.224G= c.1871G= (p.Ser624=) c.2126G= (p.Ser709=) c.1688G= (p.Ser563=) c.1988G= (p.Ser663=) n.2439G= | |
9 | g.104828980C>G | CA374322142 | ABCA1 | c.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 | |
9 | g.104828980C>T | CA374322143 | ABCA1 | c.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 |
9 | g.104828981T>A | CA374322144 | ABCA1 | c.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 | |
9 | g.104828981T>C | CA374322145 | ABCA1 | c.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 |
9 | g.104828981T>G | CA374322146 | ABCA1 | c.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 | |
9 | g.104828982A>C | CA374322147 | ABCA1 | c.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 | |
9 | g.104828982A>G | CA466510259 | ABCA1 | c.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 | |
9 | g.104828982A>T | CA374322148 | ABCA1 | c.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 | |
9 | g.104828983A>C | CA374322149 | ABCA1 | c.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 | |
9 | g.104828983A>G | CA374322150 | ABCA1 | c.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 | |
9 | g.104828983A>T | CA374322151 | ABCA1 | c.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 | |
9 | g.104828984A>C | CA374322154 | ABCA1 | c.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 | |
9 | g.104828984A>G | CA374322152 | ABCA1 | c.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 | |
9 | g.104828984A>T | CA374322153 | ABCA1 | c.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 | |
9 | g.104828985C>A | CA374322155 | ABCA1 | c.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 | |
9 | g.104828985C= | CA1869920116 | ABCA1 | c.2046G= (p.Trp682=) n.219G= c.1866G= (p.Trp622=) c.2121G= (p.Trp707=) c.1683G= (p.Trp561=) c.1983G= (p.Trp661=) n.2434G= | |
9 | g.104828985C>G | CA374322156 | ABCA1 | c.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 | |
9 | g.104828985C>T | CA374322157 | ABCA1 | c.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 |
9 | g.104828986C>A | CA374322158 | ABCA1 | c.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 | |
9 | g.104828986C>G | CA374322159 | ABCA1 | c.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 | |
9 | g.104828986C>T | CA374322160 | ABCA1 | c.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 | |
9 | g.104828987A= | CA1869920140 | ABCA1 | c.2044T= (p.Trp682=) n.217T= c.1864T= (p.Trp622=) c.2119T= (p.Trp707=) c.1681T= (p.Trp561=) c.1981T= (p.Trp661=) n.2432T= | |
9 | g.104828987A>C | CA374322161 | ABCA1 | c.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 | |
9 | g.104828987A>G | CA5168837 | ABCA1 | c.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 |
9 | g.104828987A>T | CA374322162 | ABCA1 | c.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 | |
9 | g.104828988G>A | CA466510286 | ABCA1 | c.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 | |
9 | g.104828988G>C | CA466510288 | ABCA1 | c.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 |
9 | g.104828988G= | CA1869920146 | ABCA1 | c.2043C= (p.Leu681=) n.216C= c.1863C= (p.Leu621=) c.2118C= (p.Leu706=) c.1680C= (p.Leu560=) c.1980C= (p.Leu660=) n.2431C= | |
9 | g.104828988G>T | CA197395006 | ABCA1 | c.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 |
9 | g.104828989A= | CA1869920156 | ABCA1 | c.2042T= (p.Leu681=) n.215T= c.1862T= (p.Leu621=) c.2117T= (p.Leu706=) c.1679T= (p.Leu560=) c.1979T= (p.Leu660=) n.2430T= | |
9 | g.104828989A>C | CA374322163 | ABCA1 | c.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 | |
9 | g.104828989A>G | CA374322164 | ABCA1 | c.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 |
9 | g.104828989A>T | CA374322165 | ABCA1 | c.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 | |
9 | g.104828990G>A | CA374322168 | ABCA1 | c.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 | |
9 | g.104828990G>C | CA374322167 | ABCA1 | c.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 | |
9 | g.104828990G>T | CA374322166 | ABCA1 | c.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 | |
9 | g.104828991G>A | CA466510297 | ABCA1 | c.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 | |
9 | g.104828991G>C | CA374322169 | ABCA1 | c.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 |
9 | g.104828991G= | CA1869920162 | ABCA1 | c.2040C= (p.Ile680=) n.213C= c.1860C= (p.Ile620=) c.2115C= (p.Ile705=) c.1677C= (p.Ile559=) c.1977C= (p.Ile659=) n.2428C= | |
9 | g.104828991G>T | CA5168838 | ABCA1 | c.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 |
9 | g.104828992A>C | CA374322170 | ABCA1 | c.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 | |
9 | g.104828992A>G | CA374322171 | ABCA1 | c.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 | |
9 | g.104828992A>T | CA374322172 | ABCA1 | c.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 | |
9 | g.104828993T>A | CA374322173 | ABCA1 | c.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 | |
9 | g.104828993T>C | CA374322174 | ABCA1 | c.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 | |
9 | g.104828993T>G | CA374322175 | ABCA1 | c.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 | |
9 | g.104828994G>A | CA466510312 | ABCA1 | c.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 | |
9 | g.104828994G>C | CA374322176 | ABCA1 | c.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 | |
9 | g.104828994G>T | CA374322177 | ABCA1 | c.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 | |
9 | g.104828995C>A | CA374322178 | ABCA1 | c.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 | |
9 | g.104828995C>G | CA374322179 | ABCA1 | c.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 | |
9 | g.104828995C>T | CA374322180 | ABCA1 | c.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 | |
9 | g.104828996T>A | CA374322182 | ABCA1 | c.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 | |
9 | g.104828996T>C | CA374322183 | ABCA1 | c.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 | |
9 | g.104828996T>G | CA374322181 | ABCA1 | c.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 | |
9 | g.104828997G>A | CA5168839 | ABCA1 | c.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 |
9 | g.104828997G>C | CA374322185 | ABCA1 | c.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 | |
9 | g.104828997G= | CA1869920167 | ABCA1 | c.2034C= (p.Asn678=) n.207C= c.1854C= (p.Asn618=) c.2109C= (p.Asn703=) c.1671C= (p.Asn557=) c.1971C= (p.Asn657=) n.2422C= | |
9 | g.104828997G>T | CA374322184 | ABCA1 | c.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 | |
9 | g.104828998T>A | CA374322186 | ABCA1 | c.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 | |
9 | g.104828998T>C | CA374322188 | ABCA1 | c.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 |
9 | g.104828998T>G | CA374322187 | ABCA1 | c.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 | |
9 | g.104828999T>A | CA374322189 | ABCA1 | c.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 | |
9 | g.104828999T>C | CA374322190 | ABCA1 | c.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 |
9 | g.104828999T>G | CA374322191 | ABCA1 | c.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 | |
9 | g.104829000G>A | CA466510335 | ABCA1 | c.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 | |
9 | g.104829000G>C | CA374322192 | ABCA1 | c.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 | |
9 | g.104829000G= | CA1869920172 | ABCA1 | c.2031C= (p.Asp677=) n.204C= c.1851C= (p.Asp617=) c.2106C= (p.Asp702=) c.1668C= (p.Asp556=) c.1968C= (p.Asp656=) n.2419C= | |
9 | g.104829000G>T | CA374322193 | ABCA1 | c.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 |
9 | g.104829001T>A | CA374322194 | ABCA1 | c.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 | |
9 | g.104829001T>C | CA374322195 | ABCA1 | c.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 |
9 | g.104829001T>G | CA374322196 | ABCA1 | c.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 | |
9 | g.104829002C>A | CA374322197 | ABCA1 | c.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 | |
9 | g.104829002C>G | CA374322198 | ABCA1 | c.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 | |
9 | g.104829002C>T | CA374322199 | ABCA1 | c.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 | |
9 | g.104829003del | CA2695203295 | ABCA1 | c.2029del (p.Asp677ThrfsTer19) n.202del c.1849del (p.Asp617ThrfsTer19) c.2104del (p.Asp702ThrfsTer19) c.1666del (p.Asp556ThrfsTer19) c.1966del (p.Asp656ThrfsTer19) n.2417del | |
9 | g.104829003C>A | CA466510353 | ABCA1 | c.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 | |
9 | g.104829003C>G | CA466510351 | ABCA1 | c.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 | |
9 | g.104829003C>T | CA466510349 | ABCA1 | c.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 | |
9 | g.104829004A= | CA1869920176 | ABCA1 | c.2027T= (p.Leu676=) n.200T= c.1847T= (p.Leu616=) c.2102T= (p.Leu701=) c.1664T= (p.Leu555=) c.1964T= (p.Leu655=) n.2415T= | |
9 | g.104829004A>C | CA374322201 | ABCA1 | c.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 | |
9 | g.104829004A>G | CA5168840 | ABCA1 | c.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 |
9 | g.104829004A>T | CA374322200 | ABCA1 | c.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 | |
9 | g.104829005G>A | CA466510360 | ABCA1 | c.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 |
9 | g.104829005G>C | CA374322202 | ABCA1 | c.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 |
9 | g.104829005G= | CA1869920181 | ABCA1 | c.2026C= (p.Leu676=) n.199C= c.1846C= (p.Leu616=) c.2101C= (p.Leu701=) c.1663C= (p.Leu555=) c.1963C= (p.Leu655=) n.2414C= | |
9 | g.104829005G>T | CA374322203 | ABCA1 | c.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 |
9 | g.104829006G>A | CA466510369 | ABCA1 | c.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 |
9 | g.104829006G>C | CA466510367 | ABCA1 | c.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 | |
9 | g.104829006G>T | CA466510366 | ABCA1 | c.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 | |
9 | g.104829007C>A | CA374322204 | ABCA1 | c.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 | |
9 | g.104829007C>G | CA374322205 | ABCA1 | c.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 | |
9 | g.104829007C>T | CA374322206 | ABCA1 | c.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 | |
9 | g.104829008C>A | CA374322207 | ABCA1 | c.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 | |
9 | g.104829008C= | CA1869920187 | ABCA1 | c.2023G= (p.Gly675=) n.196G= c.1843G= (p.Gly615=) c.2098G= (p.Gly700=) c.1660G= (p.Gly554=) c.1960G= (p.Gly654=) n.2411G= | |
9 | g.104829008C>G | CA374322208 | ABCA1 | c.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 |
9 | g.104829008C>T | CA374322209 | ABCA1 | c.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 |
9 | g.104829009C>A | CA374322210 | ABCA1 | c.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 | |
9 | g.104829009C>G | CA374322211 | ABCA1 | c.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 |
9 | g.104829009C>T | CA374322212 | ABCA1 | c.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 | |
9 | g.104829010A>C | CA374322215 | ABCA1 | c.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 | |
9 | g.104829010A>G | CA374322214 | ABCA1 | c.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 |
9 | g.104829010A>T | CA374322213 | ABCA1 | c.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 |
9 | g.104829011T>A | CA374322216 | ABCA1 | c.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 | |
9 | g.104829011T>C | CA374322217 | ABCA1 | c.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 | |
9 | g.104829011T>G | CA5168841 | ABCA1 | c.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 |
9 | g.104829011T= | CA1869920194 | ABCA1 | c.2020A= (p.Met674=) n.193A= c.1840A= (p.Met614=) c.2095A= (p.Met699=) c.1657A= (p.Met553=) c.1957A= (p.Met653=) n.2408A= | |
9 | g.104829012G>A | CA466510392 | ABCA1 | c.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 |
9 | g.104829012G>C | CA374322218 | ABCA1 | c.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 | |
9 | g.104829012G= | CA1869920200 | ABCA1 | c.2019C= (p.Ile673=) n.192C= c.1839C= (p.Ile613=) c.2094C= (p.Ile698=) c.1656C= (p.Ile552=) c.1956C= (p.Ile652=) n.2407C= | |
9 | g.104829012G>T | CA466510394 | ABCA1 | c.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 | |
9 | g.104829013A= | CA1869920203 | ABCA1 | c.2018T= (p.Ile673=) n.191T= c.1838T= (p.Ile613=) c.2093T= (p.Ile698=) c.1655T= (p.Ile552=) c.1955T= (p.Ile652=) n.2406T= | |
9 | g.104829013A>C | CA374322219 | ABCA1 | c.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 | |
9 | g.104829013A>G | CA374322220 | ABCA1 | c.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 |
9 | g.104829013A>T | CA374322221 | ABCA1 | c.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 | |
9 | g.104829014T>A | CA374322222 | ABCA1 | c.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 | |
9 | g.104829014T>C | CA374322223 | ABCA1 | c.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 |
9 | g.104829014T>G | CA197395020 | ABCA1 | c.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 |
9 | g.104829014T= | CA1869920206 | ABCA1 | c.2017A= (p.Ile673=) n.190A= c.1837A= (p.Ile613=) c.2092A= (p.Ile698=) c.1654A= (p.Ile552=) c.1954A= (p.Ile652=) n.2405A= | |
9 | g.104829015C>A | CA466510407 | ABCA1 | c.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 | |
9 | g.104829015C>G | CA466510409 | ABCA1 | c.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 | |
9 | g.104829015C>T | CA466510411 | ABCA1 | c.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 | |
9 | g.104829016C>A | CA374322224 | ABCA1 | c.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 | |
9 | g.104829016C= | CA1869920213 | ABCA1 | c.2015G= (p.Arg672=) n.188G= c.1835G= (p.Arg612=) c.2090G= (p.Arg697=) c.1652G= (p.Arg551=) c.1952G= (p.Arg651=) n.2403G= | |
9 | g.104829016C>G | CA374322225 | ABCA1 | c.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 | |
9 | g.104829016C>T | CA5168842 | ABCA1 | c.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 |
9 | g.104829017G>A | CA5168843 | ABCA1 | c.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 |
9 | g.104829017G>C | CA374322226 | ABCA1 | c.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 | |
9 | g.104829017G= | CA1869920219 | ABCA1 | c.2014C= (p.Arg672=) n.187C= c.1834C= (p.Arg612=) c.2089C= (p.Arg697=) c.1651C= (p.Arg551=) c.1951C= (p.Arg651=) n.2402C= | |
9 | g.104829017G>T | CA466510417 | ABCA1 | c.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 |
9 | g.104829018C>A | CA374322227 | ABCA1 | c.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 | |
9 | g.104829018C= | CA1869920222 | ABCA1 | c.2013G= (p.Met671=) n.186G= c.1833G= (p.Met611=) c.2088G= (p.Met696=) c.1650G= (p.Met550=) c.1950G= (p.Met650=) n.2401G= | |
9 | g.104829018C>G | CA374322228 | ABCA1 | c.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 | |
9 | g.104829018C>T | CA374322229 | ABCA1 | c.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 |
9 | g.104829019A>C | CA374322230 | ABCA1 | c.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 | |
9 | g.104829019A>G | CA374322231 | ABCA1 | c.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 | |
9 | g.104829019A>T | CA374322232 | ABCA1 | c.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 | |
9 | g.104829020T>A | CA5168844 | ABCA1 | c.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 |
9 | g.104829020T>C | CA374322233 | ABCA1 | c.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 |
9 | g.104829020T>G | CA374322234 | ABCA1 | c.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 | |
9 | g.104829020T= | CA1869920223 | ABCA1 | c.2011A= (p.Met671=) n.184A= c.1831A= (p.Met611=) c.2086A= (p.Met696=) c.1648A= (p.Met550=) c.1948A= (p.Met650=) n.2399A= | |
9 | g.104829021G>A | CA466510440 | ABCA1 | c.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 |
9 | g.104829021G>C | CA466510442 | ABCA1 | c.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 |
9 | g.104829021G= | CA1869920225 | ABCA1 | c.2010C= (p.Thr670=) n.183C= c.1830C= (p.Thr610=) c.2085C= (p.Thr695=) c.1647C= (p.Thr549=) c.1947C= (p.Thr649=) n.2398C= | |
9 | g.104829021G>T | CA466510444 | ABCA1 | c.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 | |
9 | g.104829022G>A | CA374322235 | ABCA1 | c.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 | |
9 | g.104829022G>C | CA374322236 | ABCA1 | c.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 | |
9 | g.104829022G>T | CA374322237 | ABCA1 | c.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 |
9 | g.104829023T>A | CA374322240 | ABCA1 | c.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 | |
9 | g.104829023T>C | CA374322239 | ABCA1 | c.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 |
9 | g.104829023T>G | CA374322238 | ABCA1 | c.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 | |
9 | g.104829024C>A | CA374322241 | ABCA1 | c.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 | |
9 | g.104829024C>G | CA374322242 | ABCA1 | c.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 | |
9 | g.104829024C>T | CA466510458 | ABCA1 | c.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 | |
9 | g.104829025T>A | CA374322243 | ABCA1 | c.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 | |
9 | g.104829025T>C | CA374322244 | ABCA1 | c.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 | |
9 | g.104829025T>G | CA374322245 | ABCA1 | c.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 | |
9 | g.104829026C>A | CA374322246 | ABCA1 | c.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 | |
9 | g.104829026C= | CA1869920227 | ABCA1 | c.2005G= (p.Glu669=) n.178G= c.1825G= (p.Glu609=) c.2080G= (p.Glu694=) c.1642G= (p.Glu548=) c.1942G= (p.Glu648=) n.2393G= | |
9 | g.104829026C>G | CA374322247 | ABCA1 | c.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 |
9 | g.104829026C>T | CA374322248 | ABCA1 | c.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 | |
9 | g.104829027T>A | CA374322249 | ABCA1 | c.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 | |
9 | g.104829027T>C | CA466510470 | ABCA1 | c.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 | |
9 | g.104829027T>G | CA374322250 | ABCA1 | c.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 | |
9 | g.104829028T>A | CA374322251 | ABCA1 | c.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 | |
9 | g.104829028T>C | CA374322252 | ABCA1 | c.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 | |
9 | g.104829028T>G | CA374322253 | ABCA1 | c.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 | |
9 | g.104829029T>A | CA374322256 | ABCA1 | c.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 | |
9 | g.104829029T>C | CA374322255 | ABCA1 | c.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 | |
9 | g.104829029T>G | CA374322254 | ABCA1 | c.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 | |
9 | g.104829030C>A | CA466510484 | ABCA1 | c.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 | |
9 | g.104829030C= | CA1869920229 | ABCA1 | c.2001G= (p.Leu667=) n.174G= c.1821G= (p.Leu607=) c.2076G= (p.Leu692=) c.1638G= (p.Leu546=) c.1938G= (p.Leu646=) n.2389G= | |
9 | g.104829030C>G | CA466510482 | ABCA1 | c.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 |
9 | g.104829030C>T | CA466510480 | ABCA1 | c.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 |
9 | g.104829031A>C | CA374322257 | ABCA1 | c.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 | |
9 | g.104829031A>G | CA374322258 | ABCA1 | c.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 | |
9 | g.104829031A>T | CA374322259 | ABCA1 | c.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 | |
9 | g.104829032G>A | CA466510489 | ABCA1 | c.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 | |
9 | g.104829032G>C | CA374322260 | ABCA1 | c.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 | |
9 | g.104829032G>T | CA374322261 | ABCA1 | c.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 |
9 | g.104829033C>A | CA466510494 | ABCA1 | c.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 | |
9 | g.104829033C>G | CA466510496 | ABCA1 | c.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 | |
9 | g.104829033C>T | CA466510498 | ABCA1 | c.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 | ClinVar |
9 | g.104829034dup | CA2691056106 | ABCA1 | c.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 |
9 | g.104829034C>A | CA374322262 | ABCA1 | c.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 | |
9 | g.104829034C= | CA1869920230 | ABCA1 | c.1997G= (p.Arg666=) n.170G= c.1817G= (p.Arg606=) c.2072G= (p.Arg691=) c.1634G= (p.Arg545=) c.1934G= (p.Arg645=) n.2385G= | |
9 | g.104829034C>G | CA374322263 | ABCA1 | c.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 | |
9 | g.104829034C>T | CA5168845 | ABCA1 | c.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 |
9 | g.104829035G>A | CA5168846 | ABCA1 | c.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 |
9 | g.104829035G>C | CA374322264 | ABCA1 | c.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 | |
9 | g.104829035G= | CA1869920231 | ABCA1 | c.1996C= (p.Arg666=) n.169C= c.1816C= (p.Arg606=) c.2071C= (p.Arg691=) c.1633C= (p.Arg545=) c.1933C= (p.Arg645=) n.2384C= | |
9 | g.104829035G>T | CA197395053 | ABCA1 | c.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 |
9 | g.104829036T>A | CA466510509 | ABCA1 | c.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 | |
9 | g.104829036T>C | CA197395056 | ABCA1 | c.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 |
9 | g.104829036T>G | CA466510511 | ABCA1 | c.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 | |
9 | g.104829036T= | CA1869920239 | ABCA1 | c.1995A= (p.Ala665=) n.168A= c.1815A= (p.Ala605=) c.2070A= (p.Ala690=) c.1632A= (p.Ala544=) c.1932A= (p.Ala644=) n.2383A= | |
9 | g.104829037G>A | CA5168847 | ABCA1 | c.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 |
9 | g.104829037G>C | CA374322265 | ABCA1 | c.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 |
9 | g.104829037G= | CA1869920241 | ABCA1 | c.1994C= (p.Ala665=) n.167C= c.1814C= (p.Ala605=) c.2069C= (p.Ala690=) c.1631C= (p.Ala544=) c.1931C= (p.Ala644=) n.2382C= | |
9 | g.104829037G>T | CA374322266 | ABCA1 | c.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 | |
9 | g.104829038C>A | CA374322268 | ABCA1 | c.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 |
9 | g.104829038C= | CA1869920248 | ABCA1 | c.1993G= (p.Ala665=) n.166G= c.1813G= (p.Ala605=) c.2068G= (p.Ala690=) c.1630G= (p.Ala544=) c.1930G= (p.Ala644=) n.2381G= | |
9 | g.104829038C>G | CA374322269 | ABCA1 | c.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 | |
9 | g.104829038C>T | CA374322267 | ABCA1 | c.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 | |
9 | g.104829039C>A | CA374322270 | ABCA1 | c.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 | |
9 | g.104829039C= | CA1869920272 | ABCA1 | c.1992G= (p.Glu664=) n.165G= c.1812G= (p.Glu604=) c.2067G= (p.Glu689=) c.1629G= (p.Glu543=) c.1929G= (p.Glu643=) n.2380G= | |
9 | g.104829039C>G | CA374322271 | ABCA1 | c.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 | |
9 | g.104829039C>T | CA5168848 | ABCA1 | c.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 |
9 | g.104829040T>A | CA374322272 | ABCA1 | c.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 | |
9 | g.104829040T>C | CA374322273 | ABCA1 | c.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 | |
9 | g.104829040T>G | CA374322274 | ABCA1 | c.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 | |
9 | g.104829041C>A | CA374322275 | ABCA1 | c.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 | |
9 | g.104829041C>G | CA374322276 | ABCA1 | c.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 | |
9 | g.104829041C>T | CA374322277 | ABCA1 | c.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 | |
9 | g.104829042C>A | CA374322278 | ABCA1 | c.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 |
9 | g.104829042C>G | CA374322279 | ABCA1 | c.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 | |
9 | g.104829042C>T | CA466510537 | ABCA1 | c.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 |
9 | g.104829043T>A | CA374322282 | ABCA1 | c.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 | |
9 | g.104829043T>C | CA374322281 | ABCA1 | c.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 | |
9 | g.104829043T>G | CA374322280 | ABCA1 | c.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 | |
9 | g.104829044T>A | CA374322283 | ABCA1 | c.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 | |
9 | g.104829044T>C | CA197395067 | ABCA1 | c.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 |
9 | g.104829044T>G | CA374322284 | ABCA1 | c.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 | |
9 | g.104829044T= | CA1869920278 | ABCA1 | c.1987A= (p.Lys663=) n.160A= c.1807A= (p.Lys603=) c.2062A= (p.Lys688=) c.1624A= (p.Lys542=) c.1924A= (p.Lys642=) n.2375A= | |
9 | g.104829045C>A | CA374322285 | ABCA1 | c.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 | |
9 | g.104829045C>G | CA374322286 | ABCA1 | c.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 | |
9 | g.104829045C>T | CA466510554 | ABCA1 | c.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 | |
9 | g.104829046T>A | CA374322287 | ABCA1 | c.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 |
9 | g.104829046T>C | CA374322288 | ABCA1 | c.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 | |
9 | g.104829046T>G | CA374322289 | ABCA1 | c.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 | |
9 | g.104829046T= | CA1869920279 | ABCA1 | c.1985A= (p.Glu662=) n.158A= c.1805A= (p.Glu602=) c.2060A= (p.Glu687=) c.1622A= (p.Glu541=) c.1922A= (p.Glu641=) n.2373A= | |
9 | g.104829047C>A | CA374322290 | ABCA1 | c.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 |
9 | g.104829047C>G | CA374322291 | ABCA1 | c.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 | |
9 | g.104829047C>T | CA374322292 | ABCA1 | c.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 | |
9 | g.104829048A= | CA1869920281 | ABCA1 | c.1983T= (p.Tyr661=) n.156T= c.1803T= (p.Tyr601=) c.2058T= (p.Tyr686=) c.1620T= (p.Tyr540=) c.1920T= (p.Tyr640=) n.2371T= | |
9 | g.104829048A>C | CA374322293 | ABCA1 | c.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 |
9 | g.104829048A>G | CA466510565 | ABCA1 | c.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 |
9 | g.104829048A>T | CA374322294 | ABCA1 | c.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 | |
9 | g.104829049T>A | CA374322296 | ABCA1 | c.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 | |
9 | g.104829049T>C | CA374322297 | ABCA1 | c.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 |
9 | g.104829049T>G | CA374322295 | ABCA1 | c.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 | |
9 | g.104829050A= | CA1869920284 | ABCA1 | c.1981T= (p.Tyr661=) n.154T= c.1801T= (p.Tyr601=) c.2056T= (p.Tyr686=) c.1618T= (p.Tyr540=) c.1918T= (p.Tyr640=) n.2369T= | |
9 | g.104829050A>C | CA374322299 | ABCA1 | c.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 |
9 | g.104829050A>G | CA374322298 | ABCA1 | c.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 | |
9 | g.104829050A>T | CA374322300 | ABCA1 | c.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 | |
9 | g.104829051C>A | CA466510579 | ABCA1 | c.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 | |
9 | g.104829051C= | CA1869920286 | ABCA1 | c.1980G= (p.Val660=) n.153G= c.1800G= (p.Val600=) c.2055G= (p.Val685=) c.1617G= (p.Val539=) c.1917G= (p.Val639=) n.2368G= | |
9 | g.104829051C>G | CA466510575 | ABCA1 | c.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 | |
9 | g.104829051C>T | CA466510577 | ABCA1 | c.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 |
9 | g.104829051_104829052delinsCA | CA1869920285 | ABCA1 | c.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 |