| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |