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