| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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?) | ClinVar 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=) | |
| 15 | g.27926155A>C | CA7438785 | OCA2 | c.2051T>G (p.Phe684Cys) c.1979T>G (p.Phe660Cys) c.2075T>G (p.Phe692Cys) c.2003T>G (p.Phe668Cys) c.1937T>G (p.Phe646Cys) c.1880T>G (p.Phe627Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926155A>G | CA391361017 | OCA2 | c.2051T>C (p.Phe684Ser) c.1979T>C (p.Phe660Ser) c.2075T>C (p.Phe692Ser) c.2003T>C (p.Phe668Ser) c.1937T>C (p.Phe646Ser) c.1880T>C (p.Phe627Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926155A>T | CA391361015 | OCA2 | c.2051T>A (p.Phe684Tyr) c.1979T>A (p.Phe660Tyr) c.2075T>A (p.Phe692Tyr) c.2003T>A (p.Phe668Tyr) c.1937T>A (p.Phe646Tyr) c.1880T>A (p.Phe627Tyr) | |
| 15 | g.27926156A= | CA2166365064 | OCA2 | c.2050T= (p.Phe684=) c.1978T= (p.Phe660=) c.2074T= (p.Phe692=) c.2002T= (p.Phe668=) c.1936T= (p.Phe646=) c.1879T= (p.Phe627=) | |
| 15 | g.27926156A>C | CA391361020 | OCA2 | c.2050T>G (p.Phe684Val) c.1978T>G (p.Phe660Val) c.2074T>G (p.Phe692Val) c.2002T>G (p.Phe668Val) c.1936T>G (p.Phe646Val) c.1879T>G (p.Phe627Val) | |
| 15 | g.27926156A>G | CA391361024 | OCA2 | c.2050T>C (p.Phe684Leu) c.1978T>C (p.Phe660Leu) c.2074T>C (p.Phe692Leu) c.2002T>C (p.Phe668Leu) c.1936T>C (p.Phe646Leu) c.1879T>C (p.Phe627Leu) | |
| 15 | g.27926156A>T | CA7438786 | OCA2 | c.2050T>A (p.Phe684Ile) c.1978T>A (p.Phe660Ile) c.2074T>A (p.Phe692Ile) c.2002T>A (p.Phe668Ile) c.1936T>A (p.Phe646Ile) c.1879T>A (p.Phe627Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926156_27926157insG | CA7438787 | OCA2 | c.2049_2050insC (p.Phe684LeufsTer?) c.1977_1978insC (p.Phe660LeufsTer?) c.2073_2074insC (p.Phe692LeufsTer?) c.2001_2002insC (p.Phe668LeufsTer?) c.1935_1936insC (p.Phe646LeufsTer?) c.2073_2074insC (p.Phe692LeufsTer22) c.1878_1879insC (p.Phe627LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926157C>A | CA488959264 | OCA2 | c.2049G>T (p.Leu683=) c.1977G>T (p.Leu659=) c.2073G>T (p.Leu691=) c.2001G>T (p.Leu667=) c.1935G>T (p.Leu645=) c.1878G>T (p.Leu626=) | |
| 15 | g.27926157C>G | CA488959265 | OCA2 | c.2049G>C (p.Leu683=) c.1977G>C (p.Leu659=) c.2073G>C (p.Leu691=) c.2001G>C (p.Leu667=) c.1935G>C (p.Leu645=) c.1878G>C (p.Leu626=) | |
| 15 | g.27926157C>T | CA488959263 | OCA2 | c.2049G>A (p.Leu683=) c.1977G>A (p.Leu659=) c.2073G>A (p.Leu691=) c.2001G>A (p.Leu667=) c.1935G>A (p.Leu645=) c.1878G>A (p.Leu626=) | |
| 15 | g.27926158A= | CA2166365065 | OCA2 | c.2048T= (p.Leu683=) c.1976T= (p.Leu659=) c.2072T= (p.Leu691=) c.2000T= (p.Leu667=) c.1934T= (p.Leu645=) c.1877T= (p.Leu626=) | |
| 15 | g.27926158A>C | CA391361027 | OCA2 | c.2048T>G (p.Leu683Arg) c.1976T>G (p.Leu659Arg) c.2072T>G (p.Leu691Arg) c.2000T>G (p.Leu667Arg) c.1934T>G (p.Leu645Arg) c.1877T>G (p.Leu626Arg) | |
| 15 | g.27926158A>G | CA7438788 | OCA2 | c.2048T>C (p.Leu683Pro) c.1976T>C (p.Leu659Pro) c.2072T>C (p.Leu691Pro) c.2000T>C (p.Leu667Pro) c.1934T>C (p.Leu645Pro) c.1877T>C (p.Leu626Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926158A>T | CA391361029 | OCA2 | c.2048T>A (p.Leu683Gln) c.1976T>A (p.Leu659Gln) c.2072T>A (p.Leu691Gln) c.2000T>A (p.Leu667Gln) c.1934T>A (p.Leu645Gln) c.1877T>A (p.Leu626Gln) | |
| 15 | g.27926159G>A | CA488959266 | OCA2 | c.2047C>T (p.Leu683=) c.1975C>T (p.Leu659=) c.2071C>T (p.Leu691=) c.1999C>T (p.Leu667=) c.1933C>T (p.Leu645=) c.1876C>T (p.Leu626=) | |
| 15 | g.27926159G>C | CA391361031 | OCA2 | c.2047C>G (p.Leu683Val) c.1975C>G (p.Leu659Val) c.2071C>G (p.Leu691Val) c.1999C>G (p.Leu667Val) c.1933C>G (p.Leu645Val) c.1876C>G (p.Leu626Val) | |
| 15 | g.27926159G>T | CA391361033 | OCA2 | c.2047C>A (p.Leu683Met) c.1975C>A (p.Leu659Met) c.2071C>A (p.Leu691Met) c.1999C>A (p.Leu667Met) c.1933C>A (p.Leu645Met) c.1876C>A (p.Leu626Met) | |
| 15 | g.27926160A>C | CA488959267 | OCA2 | c.2046T>G (p.Leu682=) c.1974T>G (p.Leu658=) c.2070T>G (p.Leu690=) c.1998T>G (p.Leu666=) c.1932T>G (p.Leu644=) c.1875T>G (p.Leu625=) | |
| 15 | g.27926160A>G | CA488959268 | OCA2 | c.2046T>C (p.Leu682=) c.1974T>C (p.Leu658=) c.2070T>C (p.Leu690=) c.1998T>C (p.Leu666=) c.1932T>C (p.Leu644=) c.1875T>C (p.Leu625=) | |
| 15 | g.27926160A>T | CA488959269 | OCA2 | c.2046T>A (p.Leu682=) c.1974T>A (p.Leu658=) c.2070T>A (p.Leu690=) c.1998T>A (p.Leu666=) c.1932T>A (p.Leu644=) c.1875T>A (p.Leu625=) | |
| 15 | g.27926161A= | CA2166365066 | OCA2 | c.2045T= (p.Leu682=) c.1973T= (p.Leu658=) c.2069T= (p.Leu690=) c.1997T= (p.Leu666=) c.1931T= (p.Leu644=) c.1874T= (p.Leu625=) | |
| 15 | g.27926161A>C | CA391361035 | OCA2 | c.2045T>G (p.Leu682Arg) c.1973T>G (p.Leu658Arg) c.2069T>G (p.Leu690Arg) c.1997T>G (p.Leu666Arg) c.1931T>G (p.Leu644Arg) c.1874T>G (p.Leu625Arg) | |
| 15 | g.27926161A>G | CA391361037 | OCA2 | c.2045T>C (p.Leu682Pro) c.1973T>C (p.Leu658Pro) c.2069T>C (p.Leu690Pro) c.1997T>C (p.Leu666Pro) c.1931T>C (p.Leu644Pro) c.1874T>C (p.Leu625Pro) | dbSNP gnomAD v3 gnomAD v4 |