| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 15 | g.27926250C>T | CA391361472 | OCA2 | c.1956G>A (p.Trp652Ter) c.1884G>A (p.Trp628Ter) c.1980G>A (p.Trp660Ter) c.1908G>A (p.Trp636Ter) c.1842G>A (p.Trp614Ter) c.1785G>A (p.Trp595Ter) | |
| 15 | g.27926251C>A | CA391361478 | OCA2 | c.1955G>T (p.Trp652Leu) c.1883G>T (p.Trp628Leu) c.1979G>T (p.Trp660Leu) c.1907G>T (p.Trp636Leu) c.1841G>T (p.Trp614Leu) c.1784G>T (p.Trp595Leu) | |
| 15 | g.27926251C>G | CA391361481 | OCA2 | c.1955G>C (p.Trp652Ser) c.1883G>C (p.Trp628Ser) c.1979G>C (p.Trp660Ser) c.1907G>C (p.Trp636Ser) c.1841G>C (p.Trp614Ser) c.1784G>C (p.Trp595Ser) | |
| 15 | g.27926251C>T | CA391361484 | OCA2 | c.1955G>A (p.Trp652Ter) c.1883G>A (p.Trp628Ter) c.1979G>A (p.Trp660Ter) c.1907G>A (p.Trp636Ter) c.1841G>A (p.Trp614Ter) c.1784G>A (p.Trp595Ter) | |
| 15 | g.27926252A= | CA2166365103 | OCA2 | c.1954T= (p.Trp652=) c.1882T= (p.Trp628=) c.1978T= (p.Trp660=) c.1906T= (p.Trp636=) c.1840T= (p.Trp614=) c.1783T= (p.Trp595=) | |
| 15 | g.27926252A>C | CA391361486 | OCA2 | c.1954T>G (p.Trp652Gly) c.1882T>G (p.Trp628Gly) c.1978T>G (p.Trp660Gly) c.1906T>G (p.Trp636Gly) c.1840T>G (p.Trp614Gly) c.1783T>G (p.Trp595Gly) | |
| 15 | g.27926252A>G | CA391361487 | OCA2 | c.1954T>C (p.Trp652Arg) c.1882T>C (p.Trp628Arg) c.1978T>C (p.Trp660Arg) c.1906T>C (p.Trp636Arg) c.1840T>C (p.Trp614Arg) c.1783T>C (p.Trp595Arg) | |
| 15 | g.27926252A>T | CA10605608 | OCA2 | c.1954T>A (p.Trp652Arg) c.1882T>A (p.Trp628Arg) c.1978T>A (p.Trp660Arg) c.1906T>A (p.Trp636Arg) c.1840T>A (p.Trp614Arg) c.1783T>A (p.Trp595Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926253T>A | CA488959336 | OCA2 | c.1953A>T (p.Gly651=) c.1881A>T (p.Gly627=) c.1977A>T (p.Gly659=) c.1905A>T (p.Gly635=) c.1839A>T (p.Gly613=) c.1782A>T (p.Gly594=) | |
| 15 | g.27926253T>C | CA488959337 | OCA2 | c.1953A>G (p.Gly651=) c.1881A>G (p.Gly627=) c.1977A>G (p.Gly659=) c.1905A>G (p.Gly635=) c.1839A>G (p.Gly613=) c.1782A>G (p.Gly594=) | |
| 15 | g.27926253T>G | CA488959338 | OCA2 | c.1953A>C (p.Gly651=) c.1881A>C (p.Gly627=) c.1977A>C (p.Gly659=) c.1905A>C (p.Gly635=) c.1839A>C (p.Gly613=) c.1782A>C (p.Gly594=) | |
| 15 | g.27926254C>A | CA391361490 | OCA2 | c.1952G>T (p.Gly651Val) c.1880G>T (p.Gly627Val) c.1976G>T (p.Gly659Val) c.1904G>T (p.Gly635Val) c.1838G>T (p.Gly613Val) c.1781G>T (p.Gly594Val) | |
| 15 | g.27926254C>G | CA391361492 | OCA2 | c.1952G>C (p.Gly651Ala) c.1880G>C (p.Gly627Ala) c.1976G>C (p.Gly659Ala) c.1904G>C (p.Gly635Ala) c.1838G>C (p.Gly613Ala) c.1781G>C (p.Gly594Ala) | |
| 15 | g.27926254C>T | CA391361495 | OCA2 | c.1952G>A (p.Gly651Glu) c.1880G>A (p.Gly627Glu) c.1976G>A (p.Gly659Glu) c.1904G>A (p.Gly635Glu) c.1838G>A (p.Gly613Glu) c.1781G>A (p.Gly594Glu) | gnomAD v4 |
| 15 | g.27926255C>A | CA391361499 | OCA2 | c.1952-1G>T (n.1952-1G>T) c.1880-1G>T (n.1880-1G>T) c.1976-1G>T (n.1976-1G>T) c.1904-1G>T (n.1904-1G>T) c.1838-1G>T (n.1838-1G>T) c.1781-1G>T (n.1781-1G>T) | COSMIC |
| 15 | g.27926255C>G | CA391361501 | OCA2 | c.1952-1G>C (n.1952-1G>C) c.1880-1G>C (n.1880-1G>C) c.1976-1G>C (n.1976-1G>C) c.1904-1G>C (n.1904-1G>C) c.1838-1G>C (n.1838-1G>C) c.1781-1G>C (n.1781-1G>C) | |
| 15 | g.27926255C>T | CA391361503 | OCA2 | c.1952-1G>A (n.1952-1G>A) c.1880-1G>A (n.1880-1G>A) c.1976-1G>A (n.1976-1G>A) c.1904-1G>A (n.1904-1G>A) c.1838-1G>A (n.1838-1G>A) c.1781-1G>A (n.1781-1G>A) | |
| 15 | g.27926256T>A | CA391361517 | OCA2 | c.1952-2A>T (n.1952-2A>T) c.1880-2A>T (n.1880-2A>T) c.1976-2A>T (n.1976-2A>T) c.1904-2A>T (n.1904-2A>T) c.1838-2A>T (n.1838-2A>T) c.1781-2A>T (n.1781-2A>T) | |
| 15 | g.27926256T>C | CA391361510 | OCA2 | c.1952-2A>G (n.1952-2A>G) c.1880-2A>G (n.1880-2A>G) c.1976-2A>G (n.1976-2A>G) c.1904-2A>G (n.1904-2A>G) c.1838-2A>G (n.1838-2A>G) c.1781-2A>G (n.1781-2A>G) | |
| 15 | g.27926256T>G | CA391361513 | OCA2 | c.1952-2A>C (n.1952-2A>C) c.1880-2A>C (n.1880-2A>C) c.1976-2A>C (n.1976-2A>C) c.1904-2A>C (n.1904-2A>C) c.1838-2A>C (n.1838-2A>C) c.1781-2A>C (n.1781-2A>C) | |
| 15 | g.27926257G>A | CA2575652944 | OCA2 | c.1952-3C>T (n.1952-3C>T) c.1880-3C>T (n.1880-3C>T) c.1976-3C>T (n.1976-3C>T) c.1904-3C>T (n.1904-3C>T) c.1838-3C>T (n.1838-3C>T) c.1781-3C>T (n.1781-3C>T) | |
| 15 | g.27926257G>T | CA2695219759 | OCA2 | c.1952-3C>A (n.1952-3C>A) c.1880-3C>A (n.1880-3C>A) c.1976-3C>A (n.1976-3C>A) c.1904-3C>A (n.1904-3C>A) c.1838-3C>A (n.1838-3C>A) c.1781-3C>A (n.1781-3C>A) |