| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27926143A= | CA2166365054 | OCA2 | c.2063T= (p.Leu688=) c.1991T= (p.Leu664=) c.2087T= (p.Leu696=) c.2015T= (p.Leu672=) c.1949T= (p.Leu650=) c.1892T= (p.Leu631=) | |
| 15 | g.27926143A>C | CA391360919 | OCA2 | c.2063T>G (p.Leu688Arg) c.1991T>G (p.Leu664Arg) c.2087T>G (p.Leu696Arg) c.2015T>G (p.Leu672Arg) c.1949T>G (p.Leu650Arg) c.1892T>G (p.Leu631Arg) | |
| 15 | g.27926143A>G | CA7438778 | OCA2 | c.2063T>C (p.Leu688Pro) c.1991T>C (p.Leu664Pro) c.2087T>C (p.Leu696Pro) c.2015T>C (p.Leu672Pro) c.1949T>C (p.Leu650Pro) c.1892T>C (p.Leu631Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926143A>T | CA391360926 | OCA2 | c.2063T>A (p.Leu688His) c.1991T>A (p.Leu664His) c.2087T>A (p.Leu696His) c.2015T>A (p.Leu672His) c.1949T>A (p.Leu650His) c.1892T>A (p.Leu631His) | |
| 15 | g.27926144G>A | CA391360936 | OCA2 | c.2062C>T (p.Leu688Phe) c.1990C>T (p.Leu664Phe) c.2086C>T (p.Leu696Phe) c.2014C>T (p.Leu672Phe) c.1948C>T (p.Leu650Phe) c.1891C>T (p.Leu631Phe) | ClinVar |
| 15 | g.27926144G>C | CA391360933 | OCA2 | c.2062C>G (p.Leu688Val) c.1990C>G (p.Leu664Val) c.2086C>G (p.Leu696Val) c.2014C>G (p.Leu672Val) c.1948C>G (p.Leu650Val) c.1891C>G (p.Leu631Val) | |
| 15 | g.27926144G>T | CA391360929 | OCA2 | c.2062C>A (p.Leu688Ile) c.1990C>A (p.Leu664Ile) c.2086C>A (p.Leu696Ile) c.2014C>A (p.Leu672Ile) c.1948C>A (p.Leu650Ile) c.1891C>A (p.Leu631Ile) | |
| 15 | g.27926145C>A | CA488959258 | OCA2 | c.2061G>T (p.Ala687=) c.1989G>T (p.Ala663=) c.2085G>T (p.Ala695=) c.2013G>T (p.Ala671=) c.1947G>T (p.Ala649=) c.1890G>T (p.Ala630=) | COSMIC |
| 15 | g.27926145C= | CA2166365055 | OCA2 | c.2061G= (p.Ala687=) c.1989G= (p.Ala663=) c.2085G= (p.Ala695=) c.2013G= (p.Ala671=) c.1947G= (p.Ala649=) c.1890G= (p.Ala630=) | |
| 15 | g.27926145C>G | CA488959259 | OCA2 | c.2061G>C (p.Ala687=) c.1989G>C (p.Ala663=) c.2085G>C (p.Ala695=) c.2013G>C (p.Ala671=) c.1947G>C (p.Ala649=) c.1890G>C (p.Ala630=) | |
| 15 | g.27926145C>T | CA7438779 | OCA2 | c.2061G>A (p.Ala687=) c.1989G>A (p.Ala663=) c.2085G>A (p.Ala695=) c.2013G>A (p.Ala671=) c.1947G>A (p.Ala649=) c.1890G>A (p.Ala630=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.27926145_27926148dup | CA2627379624 | OCA2 | c.2058_2061dup (p.Leu688SerfsTer?) c.1986_1989dup (p.Leu664SerfsTer?) c.2082_2085dup (p.Leu696SerfsTer?) c.2010_2013dup (p.Leu672SerfsTer?) c.1944_1947dup (p.Leu650SerfsTer?) c.2082_2085dup (p.Leu696SerfsTer19) c.1887_1890dup (p.Leu631SerfsTer?) | gnomAD v4 |
| 15 | g.27926146G>A | CA7438780 | OCA2 | c.2060C>T (p.Ala687Val) c.1988C>T (p.Ala663Val) c.2084C>T (p.Ala695Val) c.2012C>T (p.Ala671Val) c.1946C>T (p.Ala649Val) c.1889C>T (p.Ala630Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.27926146G>C | CA391360943 | OCA2 | c.2060C>G (p.Ala687Gly) c.1988C>G (p.Ala663Gly) c.2084C>G (p.Ala695Gly) c.2012C>G (p.Ala671Gly) c.1946C>G (p.Ala649Gly) c.1889C>G (p.Ala630Gly) | |
| 15 | g.27926146G= | CA2166365056 | OCA2 | c.2060C= (p.Ala687=) c.1988C= (p.Ala663=) c.2084C= (p.Ala695=) c.2012C= (p.Ala671=) c.1946C= (p.Ala649=) c.1889C= (p.Ala630=) | |
| 15 | g.27926146G>T | CA391360946 | OCA2 | c.2060C>A (p.Ala687Glu) c.1988C>A (p.Ala663Glu) c.2084C>A (p.Ala695Glu) c.2012C>A (p.Ala671Glu) c.1946C>A (p.Ala649Glu) c.1889C>A (p.Ala630Glu) | dbSNP gnomAD v4 |
| 15 | g.27926147C>A | CA391360948 | OCA2 | c.2059G>T (p.Ala687Ser) c.1987G>T (p.Ala663Ser) c.2083G>T (p.Ala695Ser) c.2011G>T (p.Ala671Ser) c.1945G>T (p.Ala649Ser) c.1888G>T (p.Ala630Ser) | |
| 15 | g.27926147C= | CA2166365057 | OCA2 | c.2059G= (p.Ala687=) c.1987G= (p.Ala663=) c.2083G= (p.Ala695=) c.2011G= (p.Ala671=) c.1945G= (p.Ala649=) c.1888G= (p.Ala630=) | |
| 15 | g.27926147C>G | CA391360951 | OCA2 | c.2059G>C (p.Ala687Pro) c.1987G>C (p.Ala663Pro) c.2083G>C (p.Ala695Pro) c.2011G>C (p.Ala671Pro) c.1945G>C (p.Ala649Pro) c.1888G>C (p.Ala630Pro) | |
| 15 | g.27926147C>T | CA391360952 | OCA2 | c.2059G>A (p.Ala687Thr) c.1987G>A (p.Ala663Thr) c.2083G>A (p.Ala695Thr) c.2011G>A (p.Ala671Thr) c.1945G>A (p.Ala649Thr) c.1888G>A (p.Ala630Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926148T>A | CA7438782 | OCA2 | c.2058A>T (p.Ala686=) c.1986A>T (p.Ala662=) c.2082A>T (p.Ala694=) c.2010A>T (p.Ala670=) c.1944A>T (p.Ala648=) c.1887A>T (p.Ala629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926148T>C | CA488959260 | OCA2 | c.2058A>G (p.Ala686=) c.1986A>G (p.Ala662=) c.2082A>G (p.Ala694=) c.2010A>G (p.Ala670=) c.1944A>G (p.Ala648=) c.1887A>G (p.Ala629=) | |
| 15 | g.27926148T>G | CA7438781 | OCA2 | c.2058A>C (p.Ala686=) c.1986A>C (p.Ala662=) c.2082A>C (p.Ala694=) c.2010A>C (p.Ala670=) c.1944A>C (p.Ala648=) c.1887A>C (p.Ala629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926148T= | CA2166365058 | OCA2 | c.2058A= (p.Ala686=) c.1986A= (p.Ala662=) c.2082A= (p.Ala694=) c.2010A= (p.Ala670=) c.1944A= (p.Ala648=) c.1887A= (p.Ala629=) | |
| 15 | g.27926149G>A | CA267867140 | OCA2 | c.2057C>T (p.Ala686Val) c.1985C>T (p.Ala662Val) c.2081C>T (p.Ala694Val) c.2009C>T (p.Ala670Val) c.1943C>T (p.Ala648Val) c.1886C>T (p.Ala629Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926149G>C | CA391360963 | OCA2 | c.2057C>G (p.Ala686Gly) c.1985C>G (p.Ala662Gly) c.2081C>G (p.Ala694Gly) c.2009C>G (p.Ala670Gly) c.1943C>G (p.Ala648Gly) c.1886C>G (p.Ala629Gly) | |
| 15 | g.27926149G= | CA2166365059 | OCA2 | c.2057C= (p.Ala686=) c.1985C= (p.Ala662=) c.2081C= (p.Ala694=) c.2009C= (p.Ala670=) c.1943C= (p.Ala648=) c.1886C= (p.Ala629=) | |
| 15 | g.27926149G>T | CA391360968 | OCA2 | c.2057C>A (p.Ala686Glu) c.1985C>A (p.Ala662Glu) c.2081C>A (p.Ala694Glu) c.2009C>A (p.Ala670Glu) c.1943C>A (p.Ala648Glu) c.1886C>A (p.Ala629Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926150C>A | CA391360973 | OCA2 | c.2056G>T (p.Ala686Ser) c.1984G>T (p.Ala662Ser) c.2080G>T (p.Ala694Ser) c.2008G>T (p.Ala670Ser) c.1942G>T (p.Ala648Ser) c.1885G>T (p.Ala629Ser) | |
| 15 | g.27926150C>G | CA391360971 | OCA2 | c.2056G>C (p.Ala686Pro) c.1984G>C (p.Ala662Pro) c.2080G>C (p.Ala694Pro) c.2008G>C (p.Ala670Pro) c.1942G>C (p.Ala648Pro) c.1885G>C (p.Ala629Pro) | |
| 15 | g.27926150C>T | CA391360970 | OCA2 | c.2056G>A (p.Ala686Thr) c.1984G>A (p.Ala662Thr) c.2080G>A (p.Ala694Thr) c.2008G>A (p.Ala670Thr) c.1942G>A (p.Ala648Thr) c.1885G>A (p.Ala629Thr) | |
| 15 | g.27926150_27926151delinsCA | CA2166365060 | OCA2 | c.2055_2056delinsTG (p.Phe685=) c.1983_1984delinsTG (p.Phe661=) c.2079_2080delinsTG (p.Phe693=) c.2007_2008delinsTG (p.Phe669=) c.1941_1942delinsTG (p.Phe647=) c.1884_1885delinsTG (p.Phe628=) | |
| 15 | g.27926151A>C | CA391360983 | OCA2 | c.2055T>G (p.Phe685Leu) c.1983T>G (p.Phe661Leu) c.2079T>G (p.Phe693Leu) c.2007T>G (p.Phe669Leu) c.1941T>G (p.Phe647Leu) c.1884T>G (p.Phe628Leu) | |
| 15 | g.27926151A>G | CA488959261 | OCA2 | c.2055T>C (p.Phe685=) c.1983T>C (p.Phe661=) c.2079T>C (p.Phe693=) c.2007T>C (p.Phe669=) c.1941T>C (p.Phe647=) c.1884T>C (p.Phe628=) | |
| 15 | g.27926151A>T | CA391360986 | OCA2 | c.2055T>A (p.Phe685Leu) c.1983T>A (p.Phe661Leu) c.2079T>A (p.Phe693Leu) c.2007T>A (p.Phe669Leu) c.1941T>A (p.Phe647Leu) c.1884T>A (p.Phe628Leu) | |
| 15 | g.27926156dup | CA7438784 | OCA2 | c.2055dup (p.Ala686CysfsTer?) c.1983dup (p.Ala662CysfsTer?) c.2079dup (p.Ala694CysfsTer?) c.2007dup (p.Ala670CysfsTer?) c.1941dup (p.Ala648CysfsTer?) c.2079dup (p.Ala694CysfsTer20) c.1884dup (p.Ala629CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926156del | CA7438783 | OCA2 | c.2055del (p.Phe685LeufsTer7) c.1983del (p.Phe661LeufsTer7) c.2079del (p.Phe693LeufsTer7) c.2007del (p.Phe669LeufsTer7) c.1941del (p.Phe647LeufsTer7) c.1884del (p.Phe628LeufsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926152A>C | CA391360994 | OCA2 | c.2054T>G (p.Phe685Cys) c.1982T>G (p.Phe661Cys) c.2078T>G (p.Phe693Cys) c.2006T>G (p.Phe669Cys) c.1940T>G (p.Phe647Cys) c.1883T>G (p.Phe628Cys) | |
| 15 | g.27926152A>G | CA391360997 | OCA2 | c.2054T>C (p.Phe685Ser) c.1982T>C (p.Phe661Ser) c.2078T>C (p.Phe693Ser) c.2006T>C (p.Phe669Ser) c.1940T>C (p.Phe647Ser) c.1883T>C (p.Phe628Ser) | |
| 15 | g.27926152A>T | CA391360999 | OCA2 | c.2054T>A (p.Phe685Tyr) c.1982T>A (p.Phe661Tyr) c.2078T>A (p.Phe693Tyr) c.2006T>A (p.Phe669Tyr) c.1940T>A (p.Phe647Tyr) c.1883T>A (p.Phe628Tyr) | |
| 15 | g.27926153A= | CA2166365061 | OCA2 | c.2053T= (p.Phe685=) c.1981T= (p.Phe661=) c.2077T= (p.Phe693=) c.2005T= (p.Phe669=) c.1939T= (p.Phe647=) c.1882T= (p.Phe628=) | |
| 15 | g.27926153A>C | CA391361001 | OCA2 | c.2053T>G (p.Phe685Val) c.1981T>G (p.Phe661Val) c.2077T>G (p.Phe693Val) c.2005T>G (p.Phe669Val) c.1939T>G (p.Phe647Val) c.1882T>G (p.Phe628Val) | |
| 15 | g.27926153A>G | CA267867154 | OCA2 | c.2053T>C (p.Phe685Leu) c.1981T>C (p.Phe661Leu) c.2077T>C (p.Phe693Leu) c.2005T>C (p.Phe669Leu) c.1939T>C (p.Phe647Leu) c.1882T>C (p.Phe628Leu) | dbSNP |
| 15 | g.27926153A>T | CA391361006 | OCA2 | c.2053T>A (p.Phe685Ile) c.1981T>A (p.Phe661Ile) c.2077T>A (p.Phe693Ile) c.2005T>A (p.Phe669Ile) c.1939T>A (p.Phe647Ile) c.1882T>A (p.Phe628Ile) | |
| 15 | g.27926153_27926155delinsAAA | CA2166365062 | OCA2 | c.2051_2053delinsTTT (p.Phe684=) c.1979_1981delinsTTT (p.Phe660=) c.2075_2077delinsTTT (p.Phe692=) c.2003_2005delinsTTT (p.Phe668=) c.1937_1939delinsTTT (p.Phe646=) c.1880_1882delinsTTT (p.Phe627=) | |
| 15 | g.27926154A>C | CA391361008 | OCA2 | c.2052T>G (p.Phe684Leu) c.1980T>G (p.Phe660Leu) c.2076T>G (p.Phe692Leu) c.2004T>G (p.Phe668Leu) c.1938T>G (p.Phe646Leu) c.1881T>G (p.Phe627Leu) | |
| 15 | g.27926154A>G | CA488959262 | OCA2 | c.2052T>C (p.Phe684=) c.1980T>C (p.Phe660=) c.2076T>C (p.Phe692=) c.2004T>C (p.Phe668=) c.1938T>C (p.Phe646=) c.1881T>C (p.Phe627=) | |
| 15 | g.27926154A>T | CA391361011 | OCA2 | c.2052T>A (p.Phe684Leu) c.1980T>A (p.Phe660Leu) c.2076T>A (p.Phe692Leu) c.2004T>A (p.Phe668Leu) c.1938T>A (p.Phe646Leu) c.1881T>A (p.Phe627Leu) | |
| 15 | g.27926154_27926155delinsC | CA915946478 | OCA2 | c.2051_2052delinsG (p.Phe684CysfsTer8) c.1979_1980delinsG (p.Phe660CysfsTer8) c.2075_2076delinsG (p.Phe692CysfsTer8) c.2003_2004delinsG (p.Phe668CysfsTer8) c.1937_1938delinsG (p.Phe646CysfsTer8) c.1880_1881delinsG (p.Phe627CysfsTer8) | ClinVar dbSNP |
| 15 | g.27926155A= | CA2166365063 | OCA2 | c.2051T= (p.Phe684=) c.1979T= (p.Phe660=) c.2075T= (p.Phe692=) c.2003T= (p.Phe668=) c.1937T= (p.Phe646=) c.1880T= (p.Phe627=) |