| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27926237C>A | CA391361386 | OCA2 | c.1969G>T (p.Gly657Cys) c.1897G>T (p.Gly633Cys) c.1993G>T (p.Gly665Cys) c.1921G>T (p.Gly641Cys) c.1855G>T (p.Gly619Cys) c.1798G>T (p.Gly600Cys) | |
| 15 | g.27926237C= | CA2166365096 | OCA2 | c.1969G= (p.Gly657=) c.1897G= (p.Gly633=) c.1993G= (p.Gly665=) c.1921G= (p.Gly641=) c.1855G= (p.Gly619=) c.1798G= (p.Gly600=) | |
| 15 | g.27926237C>G | CA10575784 | OCA2 | c.1969G>C (p.Gly657Arg) c.1897G>C (p.Gly633Arg) c.1993G>C (p.Gly665Arg) c.1921G>C (p.Gly641Arg) c.1855G>C (p.Gly619Arg) c.1798G>C (p.Gly600Arg) | ClinVar dbSNP |
| 15 | g.27926237C>T | CA391361388 | OCA2 | c.1969G>A (p.Gly657Ser) c.1897G>A (p.Gly633Ser) c.1993G>A (p.Gly665Ser) c.1921G>A (p.Gly641Ser) c.1855G>A (p.Gly619Ser) c.1798G>A (p.Gly600Ser) | |
| 15 | g.27926238C>A | CA488959325 | OCA2 | c.1968G>T (p.Leu656=) c.1896G>T (p.Leu632=) c.1992G>T (p.Leu664=) c.1920G>T (p.Leu640=) c.1854G>T (p.Leu618=) c.1797G>T (p.Leu599=) | |
| 15 | g.27926238C= | CA2166365097 | OCA2 | c.1968G= (p.Leu656=) c.1896G= (p.Leu632=) c.1992G= (p.Leu664=) c.1920G= (p.Leu640=) c.1854G= (p.Leu618=) c.1797G= (p.Leu599=) | |
| 15 | g.27926238C>G | CA488959326 | OCA2 | c.1968G>C (p.Leu656=) c.1896G>C (p.Leu632=) c.1992G>C (p.Leu664=) c.1920G>C (p.Leu640=) c.1854G>C (p.Leu618=) c.1797G>C (p.Leu599=) | |
| 15 | g.27926238C>T | CA488959327 | OCA2 | c.1968G>A (p.Leu656=) c.1896G>A (p.Leu632=) c.1992G>A (p.Leu664=) c.1920G>A (p.Leu640=) c.1854G>A (p.Leu618=) c.1797G>A (p.Leu599=) | dbSNP |
| 15 | g.27926239A>C | CA391361389 | OCA2 | c.1967T>G (p.Leu656Arg) c.1895T>G (p.Leu632Arg) c.1991T>G (p.Leu664Arg) c.1919T>G (p.Leu640Arg) c.1853T>G (p.Leu618Arg) c.1796T>G (p.Leu599Arg) | |
| 15 | g.27926239A>G | CA391361390 | OCA2 | c.1967T>C (p.Leu656Pro) c.1895T>C (p.Leu632Pro) c.1991T>C (p.Leu664Pro) c.1919T>C (p.Leu640Pro) c.1853T>C (p.Leu618Pro) c.1796T>C (p.Leu599Pro) | |
| 15 | g.27926239A>T | CA391361391 | OCA2 | c.1967T>A (p.Leu656Gln) c.1895T>A (p.Leu632Gln) c.1991T>A (p.Leu664Gln) c.1919T>A (p.Leu640Gln) c.1853T>A (p.Leu618Gln) c.1796T>A (p.Leu599Gln) | |
| 15 | g.27926240G>A | CA488959328 | OCA2 | c.1966C>T (p.Leu656=) c.1894C>T (p.Leu632=) c.1990C>T (p.Leu664=) c.1918C>T (p.Leu640=) c.1852C>T (p.Leu618=) c.1795C>T (p.Leu599=) | COSMIC |
| 15 | g.27926240G>C | CA391361393 | OCA2 | c.1966C>G (p.Leu656Val) c.1894C>G (p.Leu632Val) c.1990C>G (p.Leu664Val) c.1918C>G (p.Leu640Val) c.1852C>G (p.Leu618Val) c.1795C>G (p.Leu599Val) | gnomAD v4 |
| 15 | g.27926240G>T | CA391361395 | OCA2 | c.1966C>A (p.Leu656Met) c.1894C>A (p.Leu632Met) c.1990C>A (p.Leu664Met) c.1918C>A (p.Leu640Met) c.1852C>A (p.Leu618Met) c.1795C>A (p.Leu599Met) | |
| 15 | g.27926241A= | CA2166365098 | OCA2 | c.1965T= (p.Ile655=) c.1893T= (p.Ile631=) c.1989T= (p.Ile663=) c.1917T= (p.Ile639=) c.1851T= (p.Ile617=) c.1794T= (p.Ile598=) | |
| 15 | g.27926241A>C | CA391361397 | OCA2 | c.1965T>G (p.Ile655Met) c.1893T>G (p.Ile631Met) c.1989T>G (p.Ile663Met) c.1917T>G (p.Ile639Met) c.1851T>G (p.Ile617Met) c.1794T>G (p.Ile598Met) | |
| 15 | g.27926241A>G | CA488959330 | OCA2 | c.1965T>C (p.Ile655=) c.1893T>C (p.Ile631=) c.1989T>C (p.Ile663=) c.1917T>C (p.Ile639=) c.1851T>C (p.Ile617=) c.1794T>C (p.Ile598=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926241A>T | CA488959329 | OCA2 | c.1965T>A (p.Ile655=) c.1893T>A (p.Ile631=) c.1989T>A (p.Ile663=) c.1917T>A (p.Ile639=) c.1851T>A (p.Ile617=) c.1794T>A (p.Ile598=) | |
| 15 | g.27926242A= | CA2166365099 | OCA2 | c.1964T= (p.Ile655=) c.1892T= (p.Ile631=) c.1988T= (p.Ile663=) c.1916T= (p.Ile639=) c.1850T= (p.Ile617=) c.1793T= (p.Ile598=) | |
| 15 | g.27926242A>C | CA391361399 | OCA2 | c.1964T>G (p.Ile655Ser) c.1892T>G (p.Ile631Ser) c.1988T>G (p.Ile663Ser) c.1916T>G (p.Ile639Ser) c.1850T>G (p.Ile617Ser) c.1793T>G (p.Ile598Ser) | |
| 15 | g.27926242A>G | CA391361401 | OCA2 | c.1964T>C (p.Ile655Thr) c.1892T>C (p.Ile631Thr) c.1988T>C (p.Ile663Thr) c.1916T>C (p.Ile639Thr) c.1850T>C (p.Ile617Thr) c.1793T>C (p.Ile598Thr) | gnomAD v4 |
| 15 | g.27926242A>T | CA7438797 | OCA2 | c.1964T>A (p.Ile655Asn) c.1892T>A (p.Ile631Asn) c.1988T>A (p.Ile663Asn) c.1916T>A (p.Ile639Asn) c.1850T>A (p.Ile617Asn) c.1793T>A (p.Ile598Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926243T>A | CA391361404 | OCA2 | c.1963A>T (p.Ile655Phe) c.1891A>T (p.Ile631Phe) c.1987A>T (p.Ile663Phe) c.1915A>T (p.Ile639Phe) c.1849A>T (p.Ile617Phe) c.1792A>T (p.Ile598Phe) | |
| 15 | g.27926243T>C | CA391361406 | OCA2 | c.1963A>G (p.Ile655Val) c.1891A>G (p.Ile631Val) c.1987A>G (p.Ile663Val) c.1915A>G (p.Ile639Val) c.1849A>G (p.Ile617Val) c.1792A>G (p.Ile598Val) | gnomAD v4 |
| 15 | g.27926243T>G | CA391361408 | OCA2 | c.1963A>C (p.Ile655Leu) c.1891A>C (p.Ile631Leu) c.1987A>C (p.Ile663Leu) c.1915A>C (p.Ile639Leu) c.1849A>C (p.Ile617Leu) c.1792A>C (p.Ile598Leu) | |
| 15 | g.27926243dup | CA2695219758 | OCA2 | c.1963dup (p.Ile655AsnfsTer12) c.1891dup (p.Ile631AsnfsTer12) c.1987dup (p.Ile663AsnfsTer12) c.1915dup (p.Ile639AsnfsTer12) c.1849dup (p.Ile617AsnfsTer12) c.1792dup (p.Ile598AsnfsTer12) | |
| 15 | g.27926244A>C | CA488959331 | OCA2 | c.1962T>G (p.Ala654=) c.1890T>G (p.Ala630=) c.1986T>G (p.Ala662=) c.1914T>G (p.Ala638=) c.1848T>G (p.Ala616=) c.1791T>G (p.Ala597=) | |
| 15 | g.27926244A>G | CA488959332 | OCA2 | c.1962T>C (p.Ala654=) c.1890T>C (p.Ala630=) c.1986T>C (p.Ala662=) c.1914T>C (p.Ala638=) c.1848T>C (p.Ala616=) c.1791T>C (p.Ala597=) | gnomAD v4 |
| 15 | g.27926244A>T | CA488959333 | OCA2 | c.1962T>A (p.Ala654=) c.1890T>A (p.Ala630=) c.1986T>A (p.Ala662=) c.1914T>A (p.Ala638=) c.1848T>A (p.Ala616=) c.1791T>A (p.Ala597=) | |
| 15 | g.27926245G>A | CA391361409 | OCA2 | c.1961C>T (p.Ala654Val) c.1889C>T (p.Ala630Val) c.1985C>T (p.Ala662Val) c.1913C>T (p.Ala638Val) c.1847C>T (p.Ala616Val) c.1790C>T (p.Ala597Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926245G>C | CA391361416 | OCA2 | c.1961C>G (p.Ala654Gly) c.1889C>G (p.Ala630Gly) c.1985C>G (p.Ala662Gly) c.1913C>G (p.Ala638Gly) c.1847C>G (p.Ala616Gly) c.1790C>G (p.Ala597Gly) | gnomAD v4 |
| 15 | g.27926245G= | CA2166365101 | OCA2 | c.1961C= (p.Ala654=) c.1889C= (p.Ala630=) c.1985C= (p.Ala662=) c.1913C= (p.Ala638=) c.1847C= (p.Ala616=) c.1790C= (p.Ala597=) | |
| 15 | g.27926245G>T | CA391361411 | OCA2 | c.1961C>A (p.Ala654Asp) c.1889C>A (p.Ala630Asp) c.1985C>A (p.Ala662Asp) c.1913C>A (p.Ala638Asp) c.1847C>A (p.Ala616Asp) c.1790C>A (p.Ala597Asp) | |
| 15 | g.27926245_27926246delinsGC | CA2166365100 | OCA2 | c.1960_1961delinsGC (p.Ala654=) c.1888_1889delinsGC (p.Ala630=) c.1984_1985delinsGC (p.Ala662=) c.1912_1913delinsGC (p.Ala638=) c.1846_1847delinsGC (p.Ala616=) c.1789_1790delinsGC (p.Ala597=) | |
| 15 | g.27926246del | CA251636 | OCA2 | c.1960del (p.Ala654LeufsTer9) c.1888del (p.Ala630LeufsTer9) c.1984del (p.Ala662LeufsTer9) c.1912del (p.Ala638LeufsTer9) c.1846del (p.Ala616LeufsTer9) c.1789del (p.Ala597LeufsTer9) | ClinVar dbSNP |
| 15 | g.27926246C>A | CA391361420 | OCA2 | c.1960G>T (p.Ala654Ser) c.1888G>T (p.Ala630Ser) c.1984G>T (p.Ala662Ser) c.1912G>T (p.Ala638Ser) c.1846G>T (p.Ala616Ser) c.1789G>T (p.Ala597Ser) | |
| 15 | g.27926246C= | CA2166365102 | OCA2 | c.1960G= (p.Ala654=) c.1888G= (p.Ala630=) c.1984G= (p.Ala662=) c.1912G= (p.Ala638=) c.1846G= (p.Ala616=) c.1789G= (p.Ala597=) | |
| 15 | g.27926246C>G | CA391361425 | OCA2 | c.1960G>C (p.Ala654Pro) c.1888G>C (p.Ala630Pro) c.1984G>C (p.Ala662Pro) c.1912G>C (p.Ala638Pro) c.1846G>C (p.Ala616Pro) c.1789G>C (p.Ala597Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926246C>T | CA7438798 | OCA2 | c.1960G>A (p.Ala654Thr) c.1888G>A (p.Ala630Thr) c.1984G>A (p.Ala662Thr) c.1912G>A (p.Ala638Thr) c.1846G>A (p.Ala616Thr) c.1789G>A (p.Ala597Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926247A>C | CA391361439 | OCA2 | c.1959T>G (p.Ile653Met) c.1887T>G (p.Ile629Met) c.1983T>G (p.Ile661Met) c.1911T>G (p.Ile637Met) c.1845T>G (p.Ile615Met) c.1788T>G (p.Ile596Met) | gnomAD v4 |
| 15 | g.27926247A>G | CA488959334 | OCA2 | c.1959T>C (p.Ile653=) c.1887T>C (p.Ile629=) c.1983T>C (p.Ile661=) c.1911T>C (p.Ile637=) c.1845T>C (p.Ile615=) c.1788T>C (p.Ile596=) | |
| 15 | g.27926247A>T | CA488959335 | OCA2 | c.1959T>A (p.Ile653=) c.1887T>A (p.Ile629=) c.1983T>A (p.Ile661=) c.1911T>A (p.Ile637=) c.1845T>A (p.Ile615=) c.1788T>A (p.Ile596=) | |
| 15 | g.27926248A>C | CA391361443 | OCA2 | c.1958T>G (p.Ile653Ser) c.1886T>G (p.Ile629Ser) c.1982T>G (p.Ile661Ser) c.1910T>G (p.Ile637Ser) c.1844T>G (p.Ile615Ser) c.1787T>G (p.Ile596Ser) | |
| 15 | g.27926248A>G | CA391361448 | OCA2 | c.1958T>C (p.Ile653Thr) c.1886T>C (p.Ile629Thr) c.1982T>C (p.Ile661Thr) c.1910T>C (p.Ile637Thr) c.1844T>C (p.Ile615Thr) c.1787T>C (p.Ile596Thr) | |
| 15 | g.27926248A>T | CA391361458 | OCA2 | c.1958T>A (p.Ile653Asn) c.1886T>A (p.Ile629Asn) c.1982T>A (p.Ile661Asn) c.1910T>A (p.Ile637Asn) c.1844T>A (p.Ile615Asn) c.1787T>A (p.Ile596Asn) | |
| 15 | g.27926249T>A | CA391361464 | OCA2 | c.1957A>T (p.Ile653Phe) c.1885A>T (p.Ile629Phe) c.1981A>T (p.Ile661Phe) c.1909A>T (p.Ile637Phe) c.1843A>T (p.Ile615Phe) c.1786A>T (p.Ile596Phe) | |
| 15 | g.27926249T>C | CA391361467 | OCA2 | c.1957A>G (p.Ile653Val) c.1885A>G (p.Ile629Val) c.1981A>G (p.Ile661Val) c.1909A>G (p.Ile637Val) c.1843A>G (p.Ile615Val) c.1786A>G (p.Ile596Val) | |
| 15 | g.27926249T>G | CA391361469 | OCA2 | c.1957A>C (p.Ile653Leu) c.1885A>C (p.Ile629Leu) c.1981A>C (p.Ile661Leu) c.1909A>C (p.Ile637Leu) c.1843A>C (p.Ile615Leu) c.1786A>C (p.Ile596Leu) | gnomAD v4 |
| 15 | g.27926250C>A | CA391361470 | OCA2 | c.1956G>T (p.Trp652Cys) c.1884G>T (p.Trp628Cys) c.1980G>T (p.Trp660Cys) c.1908G>T (p.Trp636Cys) c.1842G>T (p.Trp614Cys) c.1785G>T (p.Trp595Cys) | COSMIC |
| 15 | g.27926250C>G | CA391361475 | OCA2 | c.1956G>C (p.Trp652Cys) c.1884G>C (p.Trp628Cys) c.1980G>C (p.Trp660Cys) c.1908G>C (p.Trp636Cys) c.1842G>C (p.Trp614Cys) c.1785G>C (p.Trp595Cys) |