| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43877785_43877786delinsAC | CA913189456 | ABCG8 | c.1894_1895delinsAC (p.Val632Thr) c.1891_1892delinsAC (p.Val631Thr) c.1906_1907delinsAC (p.Val636Thr) c.1903_1904delinsAC (p.Val635Thr) c.1678_1679delinsAC (p.Val560Thr) n.2396_2397delinsAC n.2410_2411delinsAC | ClinVar |
| 2 | g.43877786T>A | CA346671177 | ABCG8 | c.1895T>A (p.Val632Asp) c.1892T>A (p.Val631Asp) c.1907T>A (p.Val636Asp) c.1904T>A (p.Val635Asp) c.1679T>A (p.Val560Asp) n.2397T>A n.2411T>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.43877786T>C | CA1637715 | ABCG8 | c.1895T>C (p.Val632Ala) c.1892T>C (p.Val631Ala) c.1907T>C (p.Val636Ala) c.1904T>C (p.Val635Ala) c.1679T>C (p.Val560Ala) n.2397T>C n.2411T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43877786T>G | CA1637716 | ABCG8 | c.1895T>G (p.Val632Gly) c.1892T>G (p.Val631Gly) c.1907T>G (p.Val636Gly) c.1904T>G (p.Val635Gly) c.1679T>G (p.Val560Gly) n.2397T>G n.2411T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43877786T= | CA2493965129 | ABCG8 | c.1895T= (p.Val632=) c.1892T= (p.Val631=) c.1907T= (p.Val636=) c.1904T= (p.Val635=) c.1679T= (p.Val560=) n.2397T= n.2411T= | |
| 2 | g.43877787C>A | CA425908285 | ABCG8 | c.1896C>A (p.Val632=) c.1893C>A (p.Val631=) c.1908C>A (p.Val636=) c.1905C>A (p.Val635=) c.1680C>A (p.Val560=) n.2398C>A n.2412C>A | |
| 2 | g.43877787C>G | CA425908286 | ABCG8 | c.1896C>G (p.Val632=) c.1893C>G (p.Val631=) c.1908C>G (p.Val636=) c.1905C>G (p.Val635=) c.1680C>G (p.Val560=) n.2398C>G n.2412C>G | |
| 2 | g.43877787C>T | CA425908287 | ABCG8 | c.1896C>T (p.Val632=) c.1893C>T (p.Val631=) c.1908C>T (p.Val636=) c.1905C>T (p.Val635=) c.1680C>T (p.Val560=) n.2398C>T n.2412C>T | dbSNP |
| 2 | g.43877788A= | CA2493965130 | ABCG8 | c.1897A= (p.Met633=) c.1894A= (p.Met632=) c.1909A= (p.Met637=) c.1906A= (p.Met636=) c.1681A= (p.Met561=) n.2399A= n.2413A= | |
| 2 | g.43877788A>C | CA346671181 | ABCG8 | c.1897A>C (p.Met633Leu) c.1894A>C (p.Met632Leu) c.1909A>C (p.Met637Leu) c.1906A>C (p.Met636Leu) c.1681A>C (p.Met561Leu) n.2399A>C n.2413A>C | |
| 2 | g.43877788A>G | CA1637717 | ABCG8 | c.1897A>G (p.Met633Val) c.1894A>G (p.Met632Val) c.1909A>G (p.Met637Val) c.1906A>G (p.Met636Val) c.1681A>G (p.Met561Val) n.2399A>G n.2413A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.43877788A>T | CA346671183 | ABCG8 | c.1897A>T (p.Met633Leu) c.1894A>T (p.Met632Leu) c.1909A>T (p.Met637Leu) c.1906A>T (p.Met636Leu) c.1681A>T (p.Met561Leu) n.2399A>T n.2413A>T | |
| 2 | g.43877789T>A | CA346671186 | ABCG8 | c.1898T>A (p.Met633Lys) c.1895T>A (p.Met632Lys) c.1910T>A (p.Met637Lys) c.1907T>A (p.Met636Lys) c.1682T>A (p.Met561Lys) n.2400T>A n.2414T>A | |
| 2 | g.43877789T>C | CA46474660 | ABCG8 | c.1898T>C (p.Met633Thr) c.1895T>C (p.Met632Thr) c.1910T>C (p.Met637Thr) c.1907T>C (p.Met636Thr) c.1682T>C (p.Met561Thr) n.2400T>C n.2414T>C | ClinVar dbSNP |
| 2 | g.43877789T>G | CA346671184 | ABCG8 | c.1898T>G (p.Met633Arg) c.1895T>G (p.Met632Arg) c.1910T>G (p.Met637Arg) c.1907T>G (p.Met636Arg) c.1682T>G (p.Met561Arg) n.2400T>G n.2414T>G | |
| 2 | g.43877789T= | CA2493965131 | ABCG8 | c.1898T= (p.Met633=) c.1895T= (p.Met632=) c.1910T= (p.Met637=) c.1907T= (p.Met636=) c.1682T= (p.Met561=) n.2400T= n.2414T= | |
| 2 | g.43877790G>A | CA346671190 | ABCG8 | c.1899G>A (p.Met633Ile) c.1896G>A (p.Met632Ile) c.1911G>A (p.Met637Ile) c.1908G>A (p.Met636Ile) c.1683G>A (p.Met561Ile) n.2401G>A n.2415G>A | |
| 2 | g.43877790G>C | CA346671188 | ABCG8 | c.1899G>C (p.Met633Ile) c.1896G>C (p.Met632Ile) c.1911G>C (p.Met637Ile) c.1908G>C (p.Met636Ile) c.1683G>C (p.Met561Ile) n.2401G>C n.2415G>C | |
| 2 | g.43877790G>T | CA346671191 | ABCG8 | c.1899G>T (p.Met633Ile) c.1896G>T (p.Met632Ile) c.1911G>T (p.Met637Ile) c.1908G>T (p.Met636Ile) c.1683G>T (p.Met561Ile) n.2401G>T n.2415G>T | |
| 2 | g.43877791G>A | CA346671193 | ABCG8 | c.1900G>A (p.Glu634Lys) c.1897G>A (p.Glu633Lys) c.1912G>A (p.Glu638Lys) c.1909G>A (p.Glu637Lys) c.1684G>A (p.Glu562Lys) n.2402G>A n.2416G>A | |
| 2 | g.43877791G>C | CA346671195 | ABCG8 | c.1900G>C (p.Glu634Gln) c.1897G>C (p.Glu633Gln) c.1912G>C (p.Glu638Gln) c.1909G>C (p.Glu637Gln) c.1684G>C (p.Glu562Gln) n.2402G>C n.2416G>C | |
| 2 | g.43877791G>T | CA346671197 | ABCG8 | c.1900G>T (p.Glu634Ter) c.1897G>T (p.Glu633Ter) c.1912G>T (p.Glu638Ter) c.1909G>T (p.Glu637Ter) c.1684G>T (p.Glu562Ter) n.2402G>T n.2416G>T | |
| 2 | g.43877792A>C | CA346671199 | ABCG8 | c.1901A>C (p.Glu634Ala) c.1898A>C (p.Glu633Ala) c.1913A>C (p.Glu638Ala) c.1910A>C (p.Glu637Ala) c.1685A>C (p.Glu562Ala) n.2403A>C n.2417A>C | |
| 2 | g.43877792A>G | CA346671201 | ABCG8 | c.1901A>G (p.Glu634Gly) c.1898A>G (p.Glu633Gly) c.1913A>G (p.Glu638Gly) c.1910A>G (p.Glu637Gly) c.1685A>G (p.Glu562Gly) n.2403A>G n.2417A>G | |
| 2 | g.43877792A>T | CA346671203 | ABCG8 | c.1901A>T (p.Glu634Val) c.1898A>T (p.Glu633Val) c.1913A>T (p.Glu638Val) c.1910A>T (p.Glu637Val) c.1685A>T (p.Glu562Val) n.2403A>T n.2417A>T | |
| 2 | g.43877793G>A | CA425908288 | ABCG8 | c.1902G>A (p.Glu634=) c.1899G>A (p.Glu633=) c.1914G>A (p.Glu638=) c.1911G>A (p.Glu637=) c.1686G>A (p.Glu562=) n.2404G>A n.2418G>A | |
| 2 | g.43877793G>C | CA346671204 | ABCG8 | c.1902G>C (p.Glu634Asp) c.1899G>C (p.Glu633Asp) c.1914G>C (p.Glu638Asp) c.1911G>C (p.Glu637Asp) c.1686G>C (p.Glu562Asp) n.2404G>C n.2418G>C | |
| 2 | g.43877793G>T | CA346671206 | ABCG8 | c.1902G>T (p.Glu634Asp) c.1899G>T (p.Glu633Asp) c.1914G>T (p.Glu638Asp) c.1911G>T (p.Glu637Asp) c.1686G>T (p.Glu562Asp) n.2404G>T n.2418G>T | |
| 2 | g.43877793_43877806delinsGCTGGACTCGTACC | CA2493965132 | ABCG8 | c.1902_1915delinsGCTGGACTCGTACC (p.Glu634=) c.1899_1912delinsGCTGGACTCGTACC (p.Glu633=) c.1914_1927delinsGCTGGACTCGTACC (p.Glu638=) c.1911_1924delinsGCTGGACTCGTACC (p.Glu637=) c.1686_1699delinsGCTGGACTCGTACC (p.Glu562=) n.2404_2417delinsGCTGGACTCGTACC n.2418_2431delinsGCTGGACTCGTACC | |
| 2 | g.43877794C>A | CA346671209 | ABCG8 | c.1903C>A (p.Leu635Met) c.1900C>A (p.Leu634Met) c.1915C>A (p.Leu639Met) c.1912C>A (p.Leu638Met) c.1687C>A (p.Leu563Met) n.2405C>A n.2419C>A | |
| 2 | g.43877794C= | CA2493965133 | ABCG8 | c.1903C= (p.Leu635=) c.1900C= (p.Leu634=) c.1915C= (p.Leu639=) c.1912C= (p.Leu638=) c.1687C= (p.Leu563=) n.2405C= n.2419C= | |
| 2 | g.43877794C>G | CA346671211 | ABCG8 | c.1903C>G (p.Leu635Val) c.1900C>G (p.Leu634Val) c.1915C>G (p.Leu639Val) c.1912C>G (p.Leu638Val) c.1687C>G (p.Leu563Val) n.2405C>G n.2419C>G | dbSNP gnomAD v4 |
| 2 | g.43877794C>T | CA425908289 | ABCG8 | c.1903C>T (p.Leu635=) c.1900C>T (p.Leu634=) c.1915C>T (p.Leu639=) c.1912C>T (p.Leu638=) c.1687C>T (p.Leu563=) n.2405C>T n.2419C>T | |
| 2 | g.43877796_43877808del | CA1637718 | ABCG8 | c.1905_1917del (p.Asp636SerfsTer23) c.1902_1914del (p.Asp635SerfsTer23) c.1917_1929del (p.Asp640SerfsTer23) c.1914_1926del (p.Asp639SerfsTer23) c.1689_1701del (p.Asp564SerfsTer23) n.2407_2419del n.2421_2433del | dbSNP ExAC gnomAD v2 |
| 2 | g.43877795T>A | CA346671214 | ABCG8 | c.1904T>A (p.Leu635Gln) c.1901T>A (p.Leu634Gln) c.1916T>A (p.Leu639Gln) c.1913T>A (p.Leu638Gln) c.1688T>A (p.Leu563Gln) n.2406T>A n.2420T>A | |
| 2 | g.43877795T>C | CA1637719 | ABCG8 | c.1904T>C (p.Leu635Pro) c.1901T>C (p.Leu634Pro) c.1916T>C (p.Leu639Pro) c.1913T>C (p.Leu638Pro) c.1688T>C (p.Leu563Pro) n.2406T>C n.2420T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.43877795T>G | CA346671212 | ABCG8 | c.1904T>G (p.Leu635Arg) c.1901T>G (p.Leu634Arg) c.1916T>G (p.Leu639Arg) c.1913T>G (p.Leu638Arg) c.1688T>G (p.Leu563Arg) n.2406T>G n.2420T>G | |
| 2 | g.43877795T= | CA2493965135 | ABCG8 | c.1904T= (p.Leu635=) c.1901T= (p.Leu634=) c.1916T= (p.Leu639=) c.1913T= (p.Leu638=) c.1688T= (p.Leu563=) n.2406T= n.2420T= | |
| 2 | g.43877795_43877796delinsTG | CA2493965134 | ABCG8 | c.1904_1905delinsTG (p.Leu635=) c.1901_1902delinsTG (p.Leu634=) c.1916_1917delinsTG (p.Leu639=) c.1913_1914delinsTG (p.Leu638=) c.1688_1689delinsTG (p.Leu563=) n.2406_2407delinsTG n.2420_2421delinsTG | |
| 2 | g.43877796G>A | CA425908290 | ABCG8 | c.1905G>A (p.Leu635=) c.1902G>A (p.Leu634=) c.1917G>A (p.Leu639=) c.1914G>A (p.Leu638=) c.1689G>A (p.Leu563=) n.2407G>A n.2421G>A | |
| 2 | g.43877796G>C | CA425908291 | ABCG8 | c.1905G>C (p.Leu635=) c.1902G>C (p.Leu634=) c.1917G>C (p.Leu639=) c.1914G>C (p.Leu638=) c.1689G>C (p.Leu563=) n.2407G>C n.2421G>C | |
| 2 | g.43877796G>T | CA425908292 | ABCG8 | c.1905G>T (p.Leu635=) c.1902G>T (p.Leu634=) c.1917G>T (p.Leu639=) c.1914G>T (p.Leu638=) c.1689G>T (p.Leu563=) n.2407G>T n.2421G>T | |
| 2 | g.43877797del | CA1637720 | ABCG8 | c.1906del (p.Asp636ThrfsTer27) c.1903del (p.Asp635ThrfsTer27) c.1918del (p.Asp640ThrfsTer27) c.1915del (p.Asp639ThrfsTer27) c.1690del (p.Asp564ThrfsTer27) n.2408del n.2422del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.43877797G>A | CA346671217 | ABCG8 | c.1906G>A (p.Asp636Asn) c.1903G>A (p.Asp635Asn) c.1918G>A (p.Asp640Asn) c.1915G>A (p.Asp639Asn) c.1690G>A (p.Asp564Asn) n.2408G>A n.2422G>A | dbSNP COSMIC |
| 2 | g.43877797G>C | CA346671219 | ABCG8 | c.1906G>C (p.Asp636His) c.1903G>C (p.Asp635His) c.1918G>C (p.Asp640His) c.1915G>C (p.Asp639His) c.1690G>C (p.Asp564His) n.2408G>C n.2422G>C | |
| 2 | g.43877797G>T | CA346671221 | ABCG8 | c.1906G>T (p.Asp636Tyr) c.1903G>T (p.Asp635Tyr) c.1918G>T (p.Asp640Tyr) c.1915G>T (p.Asp639Tyr) c.1690G>T (p.Asp564Tyr) n.2408G>T n.2422G>T | gnomAD v4 |
| 2 | g.43877798A>C | CA346671222 | ABCG8 | c.1907A>C (p.Asp636Ala) c.1904A>C (p.Asp635Ala) c.1919A>C (p.Asp640Ala) c.1916A>C (p.Asp639Ala) c.1691A>C (p.Asp564Ala) n.2409A>C n.2423A>C | |
| 2 | g.43877798A>G | CA346671223 | ABCG8 | c.1907A>G (p.Asp636Gly) c.1904A>G (p.Asp635Gly) c.1919A>G (p.Asp640Gly) c.1916A>G (p.Asp639Gly) c.1691A>G (p.Asp564Gly) n.2409A>G n.2423A>G | |
| 2 | g.43877798A>T | CA346671225 | ABCG8 | c.1907A>T (p.Asp636Val) c.1904A>T (p.Asp635Val) c.1919A>T (p.Asp640Val) c.1916A>T (p.Asp639Val) c.1691A>T (p.Asp564Val) n.2409A>T n.2423A>T | |
| 2 | g.43877799C>A | CA346671226 | ABCG8 | c.1908C>A (p.Asp636Glu) c.1905C>A (p.Asp635Glu) c.1920C>A (p.Asp640Glu) c.1917C>A (p.Asp639Glu) c.1692C>A (p.Asp564Glu) n.2410C>A n.2424C>A |