Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27926156dupCA7438784OCA2c.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
15g.27926156delCA7438783OCA2c.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
15g.27926153_27926155delinsAAACA2166365062OCA2c.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=)
15g.27926154_27926155delinsCCA915946478OCA2c.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
15g.27926155A=CA2166365063OCA2c.2051T= (p.Phe684=)
c.1979T= (p.Phe660=)
c.2075T= (p.Phe692=)
c.2003T= (p.Phe668=)
c.1937T= (p.Phe646=)
c.1880T= (p.Phe627=)
15g.27926155A>CCA7438785OCA2c.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
15g.27926155A>GCA391361017OCA2c.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
15g.27926155A>TCA391361015OCA2c.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)
15g.27926156A=CA2166365064OCA2c.2050T= (p.Phe684=)
c.1978T= (p.Phe660=)
c.2074T= (p.Phe692=)
c.2002T= (p.Phe668=)
c.1936T= (p.Phe646=)
c.1879T= (p.Phe627=)
15g.27926156A>CCA391361020OCA2c.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)
15g.27926156A>GCA391361024OCA2c.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)
15g.27926156A>TCA7438786OCA2c.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
15g.27926156_27926157insGCA7438787OCA2c.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
15g.27926157C>ACA488959264OCA2c.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=)
15g.27926157C>GCA488959265OCA2c.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=)
15g.27926157C>TCA488959263OCA2c.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=)
15g.27926158A=CA2166365065OCA2c.2048T= (p.Leu683=)
c.1976T= (p.Leu659=)
c.2072T= (p.Leu691=)
c.2000T= (p.Leu667=)
c.1934T= (p.Leu645=)
c.1877T= (p.Leu626=)
15g.27926158A>CCA391361027OCA2c.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)
15g.27926158A>GCA7438788OCA2c.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
15g.27926158A>TCA391361029OCA2c.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)
15g.27926159G>ACA488959266OCA2c.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=)
15g.27926159G>CCA391361031OCA2c.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)
15g.27926159G>TCA391361033OCA2c.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)
15g.27926160A>CCA488959267OCA2c.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=)
15g.27926160A>GCA488959268OCA2c.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=)
15g.27926160A>TCA488959269OCA2c.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=)
15g.27926161A=CA2166365066OCA2c.2045T= (p.Leu682=)
c.1973T= (p.Leu658=)
c.2069T= (p.Leu690=)
c.1997T= (p.Leu666=)
c.1931T= (p.Leu644=)
c.1874T= (p.Leu625=)
15g.27926161A>CCA391361035OCA2c.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)
15g.27926161A>GCA391361037OCA2c.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
15g.27926161A>TCA391361039OCA2c.2045T>A (p.Leu682His)
c.1973T>A (p.Leu658His)
c.2069T>A (p.Leu690His)
c.1997T>A (p.Leu666His)
c.1931T>A (p.Leu644His)
c.1874T>A (p.Leu625His)
15g.27926162G>ACA391361041OCA2c.2044C>T (p.Leu682Phe)
c.1972C>T (p.Leu658Phe)
c.2068C>T (p.Leu690Phe)
c.1996C>T (p.Leu666Phe)
c.1930C>T (p.Leu644Phe)
c.1873C>T (p.Leu625Phe)
15g.27926162G>CCA391361042OCA2c.2044C>G (p.Leu682Val)
c.1972C>G (p.Leu658Val)
c.2068C>G (p.Leu690Val)
c.1996C>G (p.Leu666Val)
c.1930C>G (p.Leu644Val)
c.1873C>G (p.Leu625Val)
gnomAD v4
15g.27926162G>TCA391361044OCA2c.2044C>A (p.Leu682Ile)
c.1972C>A (p.Leu658Ile)
c.2068C>A (p.Leu690Ile)
c.1996C>A (p.Leu666Ile)
c.1930C>A (p.Leu644Ile)
c.1873C>A (p.Leu625Ile)
15g.27926164delCA488959270OCA2c.2044del (p.Leu682PhefsTer10)
c.1972del (p.Leu658PhefsTer10)
c.2068del (p.Leu690PhefsTer10)
c.1996del (p.Leu666PhefsTer10)
c.1930del (p.Leu644PhefsTer10)
c.1873del (p.Leu625PhefsTer10)
15g.27926163G>ACA488959271OCA2c.2043C>T (p.Thr681=)
c.1971C>T (p.Thr657=)
c.2067C>T (p.Thr689=)
c.1995C>T (p.Thr665=)
c.1929C>T (p.Thr643=)
c.1872C>T (p.Thr624=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926163G>CCA7438789OCA2c.2043C>G (p.Thr681=)
c.1971C>G (p.Thr657=)
c.2067C>G (p.Thr689=)
c.1995C>G (p.Thr665=)
c.1929C>G (p.Thr643=)
c.1872C>G (p.Thr624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926163G=CA2166365067OCA2c.2043C= (p.Thr681=)
c.1971C= (p.Thr657=)
c.2067C= (p.Thr689=)
c.1995C= (p.Thr665=)
c.1929C= (p.Thr643=)
c.1872C= (p.Thr624=)
15g.27926163G>TCA7438790OCA2c.2043C>A (p.Thr681=)
c.1971C>A (p.Thr657=)
c.2067C>A (p.Thr689=)
c.1995C>A (p.Thr665=)
c.1929C>A (p.Thr643=)
c.1872C>A (p.Thr624=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926164G>ACA391361050OCA2c.2042C>T (p.Thr681Ile)
c.1970C>T (p.Thr657Ile)
c.2066C>T (p.Thr689Ile)
c.1994C>T (p.Thr665Ile)
c.1928C>T (p.Thr643Ile)
c.1871C>T (p.Thr624Ile)
15g.27926164G>CCA391361051OCA2c.2042C>G (p.Thr681Ser)
c.1970C>G (p.Thr657Ser)
c.2066C>G (p.Thr689Ser)
c.1994C>G (p.Thr665Ser)
c.1928C>G (p.Thr643Ser)
c.1871C>G (p.Thr624Ser)
dbSNP
15g.27926164G=CA2166365068OCA2c.2042C= (p.Thr681=)
c.1970C= (p.Thr657=)
c.2066C= (p.Thr689=)
c.1994C= (p.Thr665=)
c.1928C= (p.Thr643=)
c.1871C= (p.Thr624=)
15g.27926164G>TCA391361053OCA2c.2042C>A (p.Thr681Asn)
c.1970C>A (p.Thr657Asn)
c.2066C>A (p.Thr689Asn)
c.1994C>A (p.Thr665Asn)
c.1928C>A (p.Thr643Asn)
c.1871C>A (p.Thr624Asn)
15g.27926165T>ACA391361056OCA2c.2041A>T (p.Thr681Ser)
c.1969A>T (p.Thr657Ser)
c.2065A>T (p.Thr689Ser)
c.1993A>T (p.Thr665Ser)
c.1927A>T (p.Thr643Ser)
c.1870A>T (p.Thr624Ser)
15g.27926165T>CCA391361057OCA2c.2041A>G (p.Thr681Ala)
c.1969A>G (p.Thr657Ala)
c.2065A>G (p.Thr689Ala)
c.1993A>G (p.Thr665Ala)
c.1927A>G (p.Thr643Ala)
c.1870A>G (p.Thr624Ala)
15g.27926165T>GCA391361060OCA2c.2041A>C (p.Thr681Pro)
c.1969A>C (p.Thr657Pro)
c.2065A>C (p.Thr689Pro)
c.1993A>C (p.Thr665Pro)
c.1927A>C (p.Thr643Pro)
c.1870A>C (p.Thr624Pro)
15g.27926166delCA2730411292OCA2c.2041del (p.Thr681ProfsTer11)
c.1969del (p.Thr657ProfsTer11)
c.2065del (p.Thr689ProfsTer11)
c.1993del (p.Thr665ProfsTer11)
c.1927del (p.Thr643ProfsTer11)
c.1870del (p.Thr624ProfsTer11)
dbSNP
15g.27926166T>ACA488959272OCA2c.2040A>T (p.Ala680=)
c.1968A>T (p.Ala656=)
c.2064A>T (p.Ala688=)
c.1992A>T (p.Ala664=)
c.1926A>T (p.Ala642=)
c.1869A>T (p.Ala623=)
15g.27926166T>CCA488959274OCA2c.2040A>G (p.Ala680=)
c.1968A>G (p.Ala656=)
c.2064A>G (p.Ala688=)
c.1992A>G (p.Ala664=)
c.1926A>G (p.Ala642=)
c.1869A>G (p.Ala623=)
15g.27926166T>GCA488959273OCA2c.2040A>C (p.Ala680=)
c.1968A>C (p.Ala656=)
c.2064A>C (p.Ala688=)
c.1992A>C (p.Ala664=)
c.1926A>C (p.Ala642=)
c.1869A>C (p.Ala623=)
15g.27926167G>ACA391361062OCA2c.2039C>T (p.Ala680Val)
c.1967C>T (p.Ala656Val)
c.2063C>T (p.Ala688Val)
c.1991C>T (p.Ala664Val)
c.1925C>T (p.Ala642Val)
c.1868C>T (p.Ala623Val)
gnomAD v4
15g.27926167G>CCA391361064OCA2c.2039C>G (p.Ala680Gly)
c.1967C>G (p.Ala656Gly)
c.2063C>G (p.Ala688Gly)
c.1991C>G (p.Ala664Gly)
c.1925C>G (p.Ala642Gly)
c.1868C>G (p.Ala623Gly)
15g.27926167G>TCA391361066OCA2c.2039C>A (p.Ala680Glu)
c.1967C>A (p.Ala656Glu)
c.2063C>A (p.Ala688Glu)
c.1991C>A (p.Ala664Glu)
c.1925C>A (p.Ala642Glu)
c.1868C>A (p.Ala623Glu)
gnomAD v4
15g.27926167_27926174delinsCTACA2695197228OCA2c.2032_2039delinsTAG (p.Glu678Ter)
c.1960_1967delinsTAG (p.Glu654Ter)
c.2056_2063delinsTAG (p.Glu686Ter)
c.1984_1991delinsTAG (p.Glu662Ter)
c.1918_1925delinsTAG (p.Glu640Ter)
c.1861_1868delinsTAG (p.Glu621Ter)
ClinVar
15g.27926168C>ACA391361068OCA2c.2038G>T (p.Ala680Ser)
c.1966G>T (p.Ala656Ser)
c.2062G>T (p.Ala688Ser)
c.1990G>T (p.Ala664Ser)
c.1924G>T (p.Ala642Ser)
c.1867G>T (p.Ala623Ser)
15g.27926168C>GCA391361070OCA2c.2038G>C (p.Ala680Pro)
c.1966G>C (p.Ala656Pro)
c.2062G>C (p.Ala688Pro)
c.1990G>C (p.Ala664Pro)
c.1924G>C (p.Ala642Pro)
c.1867G>C (p.Ala623Pro)
15g.27926168C>TCA391361071OCA2c.2038G>A (p.Ala680Thr)
c.1966G>A (p.Ala656Thr)
c.2062G>A (p.Ala688Thr)
c.1990G>A (p.Ala664Thr)
c.1924G>A (p.Ala642Thr)
c.1867G>A (p.Ala623Thr)
15g.27926170delCA2627379631OCA2c.2038del (p.Ala680GlnfsTer12)
c.1966del (p.Ala656GlnfsTer12)
c.2062del (p.Ala688GlnfsTer12)
c.1990del (p.Ala664GlnfsTer12)
c.1924del (p.Ala642GlnfsTer12)
c.1867del (p.Ala623GlnfsTer12)
gnomAD v4
15g.27926169C>ACA391361073OCA2c.2037G>T (p.Trp679Cys)
c.1965G>T (p.Trp655Cys)
c.2061G>T (p.Trp687Cys)
c.1989G>T (p.Trp663Cys)
c.1923G>T (p.Trp641Cys)
c.1866G>T (p.Trp622Cys)
dbSNP
15g.27926169C=CA2166365069OCA2c.2037G= (p.Trp679=)
c.1965G= (p.Trp655=)
c.2061G= (p.Trp687=)
c.1989G= (p.Trp663=)
c.1923G= (p.Trp641=)
c.1866G= (p.Trp622=)
15g.27926169C>GCA251639OCA2c.2037G>C (p.Trp679Cys)
c.1965G>C (p.Trp655Cys)
c.2061G>C (p.Trp687Cys)
c.1989G>C (p.Trp663Cys)
c.1923G>C (p.Trp641Cys)
c.1866G>C (p.Trp622Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926169C>TCA391361075OCA2c.2037G>A (p.Trp679Ter)
c.1965G>A (p.Trp655Ter)
c.2061G>A (p.Trp687Ter)
c.1989G>A (p.Trp663Ter)
c.1923G>A (p.Trp641Ter)
c.1866G>A (p.Trp622Ter)
15g.27926170C>ACA391361077OCA2c.2036G>T (p.Trp679Leu)
c.1964G>T (p.Trp655Leu)
c.2060G>T (p.Trp687Leu)
c.1988G>T (p.Trp663Leu)
c.1922G>T (p.Trp641Leu)
c.1865G>T (p.Trp622Leu)
dbSNP
15g.27926170C=CA2166365070OCA2c.2036G= (p.Trp679=)
c.1964G= (p.Trp655=)
c.2060G= (p.Trp687=)
c.1988G= (p.Trp663=)
c.1922G= (p.Trp641=)
c.1865G= (p.Trp622=)
15g.27926170C>GCA391361079OCA2c.2036G>C (p.Trp679Ser)
c.1964G>C (p.Trp655Ser)
c.2060G>C (p.Trp687Ser)
c.1988G>C (p.Trp663Ser)
c.1922G>C (p.Trp641Ser)
c.1865G>C (p.Trp622Ser)
15g.27926170C>TCA391361081OCA2c.2036G>A (p.Trp679Ter)
c.1964G>A (p.Trp655Ter)
c.2060G>A (p.Trp687Ter)
c.1988G>A (p.Trp663Ter)
c.1922G>A (p.Trp641Ter)
c.1865G>A (p.Trp622Ter)
dbSNP gnomAD v3 gnomAD v4
15g.27926171A=CA2166365071OCA2c.2035T= (p.Trp679=)
c.1963T= (p.Trp655=)
c.2059T= (p.Trp687=)
c.1987T= (p.Trp663=)
c.1921T= (p.Trp641=)
c.1864T= (p.Trp622=)
15g.27926171A>CCA391361083OCA2c.2035T>G (p.Trp679Gly)
c.1963T>G (p.Trp655Gly)
c.2059T>G (p.Trp687Gly)
c.1987T>G (p.Trp663Gly)
c.1921T>G (p.Trp641Gly)
c.1864T>G (p.Trp622Gly)
15g.27926171A>GCA7438791OCA2c.2035T>C (p.Trp679Arg)
c.1963T>C (p.Trp655Arg)
c.2059T>C (p.Trp687Arg)
c.1987T>C (p.Trp663Arg)
c.1921T>C (p.Trp641Arg)
c.1864T>C (p.Trp622Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926171A>TCA391361086OCA2c.2035T>A (p.Trp679Arg)
c.1963T>A (p.Trp655Arg)
c.2059T>A (p.Trp687Arg)
c.1987T>A (p.Trp663Arg)
c.1921T>A (p.Trp641Arg)
c.1864T>A (p.Trp622Arg)
15g.27926172T>ACA391361087OCA2c.2034A>T (p.Glu678Asp)
c.1962A>T (p.Glu654Asp)
c.2058A>T (p.Glu686Asp)
c.1986A>T (p.Glu662Asp)
c.1920A>T (p.Glu640Asp)
c.1863A>T (p.Glu621Asp)
15g.27926172T>CCA488959275OCA2c.2034A>G (p.Glu678=)
c.1962A>G (p.Glu654=)
c.2058A>G (p.Glu686=)
c.1986A>G (p.Glu662=)
c.1920A>G (p.Glu640=)
c.1863A>G (p.Glu621=)
15g.27926172T>GCA391361089OCA2c.2034A>C (p.Glu678Asp)
c.1962A>C (p.Glu654Asp)
c.2058A>C (p.Glu686Asp)
c.1986A>C (p.Glu662Asp)
c.1920A>C (p.Glu640Asp)
c.1863A>C (p.Glu621Asp)
15g.27926173T>ACA391361092OCA2c.2033A>T (p.Glu678Val)
c.1961A>T (p.Glu654Val)
c.2057A>T (p.Glu686Val)
c.1985A>T (p.Glu662Val)
c.1919A>T (p.Glu640Val)
c.1862A>T (p.Glu621Val)
15g.27926173T>CCA391361097OCA2c.2033A>G (p.Glu678Gly)
c.1961A>G (p.Glu654Gly)
c.2057A>G (p.Glu686Gly)
c.1985A>G (p.Glu662Gly)
c.1919A>G (p.Glu640Gly)
c.1862A>G (p.Glu621Gly)
15g.27926173T>GCA391361098OCA2c.2033A>C (p.Glu678Ala)
c.1961A>C (p.Glu654Ala)
c.2057A>C (p.Glu686Ala)
c.1985A>C (p.Glu662Ala)
c.1919A>C (p.Glu640Ala)
c.1862A>C (p.Glu621Ala)
15g.27926174C>ACA391361105OCA2c.2032G>T (p.Glu678Ter)
c.1960G>T (p.Glu654Ter)
c.2056G>T (p.Glu686Ter)
c.1984G>T (p.Glu662Ter)
c.1918G>T (p.Glu640Ter)
c.1861G>T (p.Glu621Ter)
15g.27926174C=CA2166365072OCA2c.2032G= (p.Glu678=)
c.1960G= (p.Glu654=)
c.2056G= (p.Glu686=)
c.1984G= (p.Glu662=)
c.1918G= (p.Glu640=)
c.1861G= (p.Glu621=)
15g.27926174C>GCA391361103OCA2c.2032G>C (p.Glu678Gln)
c.1960G>C (p.Glu654Gln)
c.2056G>C (p.Glu686Gln)
c.1984G>C (p.Glu662Gln)
c.1918G>C (p.Glu640Gln)
c.1861G>C (p.Glu621Gln)
15g.27926174C>TCA391361101OCA2c.2032G>A (p.Glu678Lys)
c.1960G>A (p.Glu654Lys)
c.2056G>A (p.Glu686Lys)
c.1984G>A (p.Glu662Lys)
c.1918G>A (p.Glu640Lys)
c.1861G>A (p.Glu621Lys)
dbSNP gnomAD v4
15g.27926175C>ACA488959276OCA2c.2031G>T (p.Val677=)
c.1959G>T (p.Val653=)
c.2055G>T (p.Val685=)
c.1983G>T (p.Val661=)
c.1917G>T (p.Val639=)
c.1860G>T (p.Val620=)
15g.27926175C=CA2166365073OCA2c.2031G= (p.Val677=)
c.1959G= (p.Val653=)
c.2055G= (p.Val685=)
c.1983G= (p.Val661=)
c.1917G= (p.Val639=)
c.1860G= (p.Val620=)
15g.27926175C>GCA488959277OCA2c.2031G>C (p.Val677=)
c.1959G>C (p.Val653=)
c.2055G>C (p.Val685=)
c.1983G>C (p.Val661=)
c.1917G>C (p.Val639=)
c.1860G>C (p.Val620=)
15g.27926175C>TCA488959278OCA2c.2031G>A (p.Val677=)
c.1959G>A (p.Val653=)
c.2055G>A (p.Val685=)
c.1983G>A (p.Val661=)
c.1917G>A (p.Val639=)
c.1860G>A (p.Val620=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926176A>CCA391361108OCA2c.2030T>G (p.Val677Gly)
c.1958T>G (p.Val653Gly)
c.2054T>G (p.Val685Gly)
c.1982T>G (p.Val661Gly)
c.1916T>G (p.Val639Gly)
c.1859T>G (p.Val620Gly)
15g.27926176A>GCA391361109OCA2c.2030T>C (p.Val677Ala)
c.1958T>C (p.Val653Ala)
c.2054T>C (p.Val685Ala)
c.1982T>C (p.Val661Ala)
c.1916T>C (p.Val639Ala)
c.1859T>C (p.Val620Ala)
ClinVar dbSNP gnomAD v4
15g.27926176A>TCA391361110OCA2c.2030T>A (p.Val677Glu)
c.1958T>A (p.Val653Glu)
c.2054T>A (p.Val685Glu)
c.1982T>A (p.Val661Glu)
c.1916T>A (p.Val639Glu)
c.1859T>A (p.Val620Glu)
15g.27926177C>ACA391361113OCA2c.2029G>T (p.Val677Leu)
c.1957G>T (p.Val653Leu)
c.2053G>T (p.Val685Leu)
c.1981G>T (p.Val661Leu)
c.1915G>T (p.Val639Leu)
c.1858G>T (p.Val620Leu)
15g.27926177C=CA2166365074OCA2c.2029G= (p.Val677=)
c.1957G= (p.Val653=)
c.2053G= (p.Val685=)
c.1981G= (p.Val661=)
c.1915G= (p.Val639=)
c.1858G= (p.Val620=)
15g.27926177C>GCA391361115OCA2c.2029G>C (p.Val677Leu)
c.1957G>C (p.Val653Leu)
c.2053G>C (p.Val685Leu)
c.1981G>C (p.Val661Leu)
c.1915G>C (p.Val639Leu)
c.1858G>C (p.Val620Leu)
15g.27926177C>TCA391361117OCA2c.2029G>A (p.Val677Met)
c.1957G>A (p.Val653Met)
c.2053G>A (p.Val685Met)
c.1981G>A (p.Val661Met)
c.1915G>A (p.Val639Met)
c.1858G>A (p.Val620Met)
dbSNP gnomAD v3 gnomAD v4
15g.27926178T>ACA391361120OCA2c.2028A>T (p.Arg676Ser)
c.1956A>T (p.Arg652Ser)
c.2052A>T (p.Arg684Ser)
c.1980A>T (p.Arg660Ser)
c.1914A>T (p.Arg638Ser)
c.1857A>T (p.Arg619Ser)
15g.27926178T>CCA488959279OCA2c.2028A>G (p.Arg676=)
c.1956A>G (p.Arg652=)
c.2052A>G (p.Arg684=)
c.1980A>G (p.Arg660=)
c.1914A>G (p.Arg638=)
c.1857A>G (p.Arg619=)
15g.27926178T>GCA391361121OCA2c.2028A>C (p.Arg676Ser)
c.1956A>C (p.Arg652Ser)
c.2052A>C (p.Arg684Ser)
c.1980A>C (p.Arg660Ser)
c.1914A>C (p.Arg638Ser)
c.1857A>C (p.Arg619Ser)
15g.27926178_27926179delinsTCCA2166365075OCA2c.2027_2028delinsGA (p.Arg676=)
c.1955_1956delinsGA (p.Arg652=)
c.2051_2052delinsGA (p.Arg684=)
c.1979_1980delinsGA (p.Arg660=)
c.1913_1914delinsGA (p.Arg638=)
c.1856_1857delinsGA (p.Arg619=)
15g.27926179delCA616704970OCA2c.2027del (p.Arg676LysfsTer16)
c.1955del (p.Arg652LysfsTer16)
c.2051del (p.Arg684LysfsTer16)
c.1979del (p.Arg660LysfsTer16)
c.1913del (p.Arg638LysfsTer16)
c.1856del (p.Arg619LysfsTer16)
dbSNP gnomAD v2 gnomAD v4
15g.27926179C>ACA391361124OCA2c.2027G>T (p.Arg676Ile)
c.1955G>T (p.Arg652Ile)
c.2051G>T (p.Arg684Ile)
c.1979G>T (p.Arg660Ile)
c.1913G>T (p.Arg638Ile)
c.1856G>T (p.Arg619Ile)
gnomAD v4
15g.27926179C>GCA391361125OCA2c.2027G>C (p.Arg676Thr)
c.1955G>C (p.Arg652Thr)
c.2051G>C (p.Arg684Thr)
c.1979G>C (p.Arg660Thr)
c.1913G>C (p.Arg638Thr)
c.1856G>C (p.Arg619Thr)
15g.27926179C>TCA391361126OCA2c.2027G>A (p.Arg676Lys)
c.1955G>A (p.Arg652Lys)
c.2051G>A (p.Arg684Lys)
c.1979G>A (p.Arg660Lys)
c.1913G>A (p.Arg638Lys)
c.1856G>A (p.Arg619Lys)
15g.27926180T>ACA391361128OCA2c.2026A>T (p.Arg676Ter)
c.1954A>T (p.Arg652Ter)
c.2050A>T (p.Arg684Ter)
c.1978A>T (p.Arg660Ter)
c.1912A>T (p.Arg638Ter)
c.1855A>T (p.Arg619Ter)
15g.27926180T>CCA391361130OCA2c.2026A>G (p.Arg676Gly)
c.1954A>G (p.Arg652Gly)
c.2050A>G (p.Arg684Gly)
c.1978A>G (p.Arg660Gly)
c.1912A>G (p.Arg638Gly)
c.1855A>G (p.Arg619Gly)
gnomAD v4 COSMIC
15g.27926180T>GCA488959280OCA2c.2026A>C (p.Arg676=)
c.1954A>C (p.Arg652=)
c.2050A>C (p.Arg684=)
c.1978A>C (p.Arg660=)
c.1912A>C (p.Arg638=)
c.1855A>C (p.Arg619=)
15g.27926181G>ACA488959281OCA2c.2025C>T (p.His675=)
c.1953C>T (p.His651=)
c.2049C>T (p.His683=)
c.1977C>T (p.His659=)
c.1911C>T (p.His637=)
c.1854C>T (p.His618=)
15g.27926181G>CCA391361133OCA2c.2025C>G (p.His675Gln)
c.1953C>G (p.His651Gln)
c.2049C>G (p.His683Gln)
c.1977C>G (p.His659Gln)
c.1911C>G (p.His637Gln)
c.1854C>G (p.His618Gln)
15g.27926181G>TCA391361131OCA2c.2025C>A (p.His675Gln)
c.1953C>A (p.His651Gln)
c.2049C>A (p.His683Gln)
c.1977C>A (p.His659Gln)
c.1911C>A (p.His637Gln)
c.1854C>A (p.His618Gln)
15g.27926182T>ACA391361135OCA2c.2024A>T (p.His675Leu)
c.1952A>T (p.His651Leu)
c.2048A>T (p.His683Leu)
c.1976A>T (p.His659Leu)
c.1910A>T (p.His637Leu)
c.1853A>T (p.His618Leu)
15g.27926182T>CCA391361138OCA2c.2024A>G (p.His675Arg)
c.1952A>G (p.His651Arg)
c.2048A>G (p.His683Arg)
c.1976A>G (p.His659Arg)
c.1910A>G (p.His637Arg)
c.1853A>G (p.His618Arg)
15g.27926182T>GCA391361136OCA2c.2024A>C (p.His675Pro)
c.1952A>C (p.His651Pro)
c.2048A>C (p.His683Pro)
c.1976A>C (p.His659Pro)
c.1910A>C (p.His637Pro)
c.1853A>C (p.His618Pro)
15g.27926183G>ACA391361140OCA2c.2023C>T (p.His675Tyr)
c.1951C>T (p.His651Tyr)
c.2047C>T (p.His683Tyr)
c.1975C>T (p.His659Tyr)
c.1909C>T (p.His637Tyr)
c.1852C>T (p.His618Tyr)
gnomAD v4
15g.27926183G>CCA391361143OCA2c.2023C>G (p.His675Asp)
c.1951C>G (p.His651Asp)
c.2047C>G (p.His683Asp)
c.1975C>G (p.His659Asp)
c.1909C>G (p.His637Asp)
c.1852C>G (p.His618Asp)
15g.27926183G>TCA391361142OCA2c.2023C>A (p.His675Asn)
c.1951C>A (p.His651Asn)
c.2047C>A (p.His683Asn)
c.1975C>A (p.His659Asn)
c.1909C>A (p.His637Asn)
c.1852C>A (p.His618Asn)
15g.27926184T>ACA488959282OCA2c.2022A>T (p.Leu674=)
c.1950A>T (p.Leu650=)
c.2046A>T (p.Leu682=)
c.1974A>T (p.Leu658=)
c.1908A>T (p.Leu636=)
c.1851A>T (p.Leu617=)
15g.27926184T>CCA7438792OCA2c.2022A>G (p.Leu674=)
c.1950A>G (p.Leu650=)
c.2046A>G (p.Leu682=)
c.1974A>G (p.Leu658=)
c.1908A>G (p.Leu636=)
c.1851A>G (p.Leu617=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926184T>GCA488959283OCA2c.2022A>C (p.Leu674=)
c.1950A>C (p.Leu650=)
c.2046A>C (p.Leu682=)
c.1974A>C (p.Leu658=)
c.1908A>C (p.Leu636=)
c.1851A>C (p.Leu617=)
15g.27926184T=CA2166365076OCA2c.2022A= (p.Leu674=)
c.1950A= (p.Leu650=)
c.2046A= (p.Leu682=)
c.1974A= (p.Leu658=)
c.1908A= (p.Leu636=)
c.1851A= (p.Leu617=)
15g.27926185A>CCA391361152OCA2c.2021T>G (p.Leu674Arg)
c.1949T>G (p.Leu650Arg)
c.2045T>G (p.Leu682Arg)
c.1973T>G (p.Leu658Arg)
c.1907T>G (p.Leu636Arg)
c.1850T>G (p.Leu617Arg)
15g.27926185A>GCA391361148OCA2c.2021T>C (p.Leu674Pro)
c.1949T>C (p.Leu650Pro)
c.2045T>C (p.Leu682Pro)
c.1973T>C (p.Leu658Pro)
c.1907T>C (p.Leu636Pro)
c.1850T>C (p.Leu617Pro)
15g.27926185A>TCA391361150OCA2c.2021T>A (p.Leu674Gln)
c.1949T>A (p.Leu650Gln)
c.2045T>A (p.Leu682Gln)
c.1973T>A (p.Leu658Gln)
c.1907T>A (p.Leu636Gln)
c.1850T>A (p.Leu617Gln)
gnomAD v4
15g.27926185dupCA2166365077OCA2c.2021dup (p.His675ThrfsTer?)
c.1949dup (p.His651ThrfsTer?)
c.2045dup (p.His683ThrfsTer?)
c.1973dup (p.His659ThrfsTer?)
c.1907dup (p.His637ThrfsTer?)
c.1850dup (p.His618ThrfsTer?)
dbSNP
15g.27926186G>ACA488959284OCA2c.2020C>T (p.Leu674=)
c.1948C>T (p.Leu650=)
c.2044C>T (p.Leu682=)
c.1972C>T (p.Leu658=)
c.1906C>T (p.Leu636=)
c.1849C>T (p.Leu617=)
15g.27926186G>CCA241133OCA2c.2020C>G (p.Leu674Val)
c.1948C>G (p.Leu650Val)
c.2044C>G (p.Leu682Val)
c.1972C>G (p.Leu658Val)
c.1906C>G (p.Leu636Val)
c.1849C>G (p.Leu617Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926186G=CA2166365078OCA2c.2020C= (p.Leu674=)
c.1948C= (p.Leu650=)
c.2044C= (p.Leu682=)
c.1972C= (p.Leu658=)
c.1906C= (p.Leu636=)
c.1849C= (p.Leu617=)
15g.27926186G>TCA391361154OCA2c.2020C>A (p.Leu674Ile)
c.1948C>A (p.Leu650Ile)
c.2044C>A (p.Leu682Ile)
c.1972C>A (p.Leu658Ile)
c.1906C>A (p.Leu636Ile)
c.1849C>A (p.Leu617Ile)
dbSNP gnomAD v3 gnomAD v4
15g.27926187A>CCA391361157OCA2c.2019T>G (p.Ile673Met)
c.1947T>G (p.Ile649Met)
c.2043T>G (p.Ile681Met)
c.1971T>G (p.Ile657Met)
c.1905T>G (p.Ile635Met)
c.1848T>G (p.Ile616Met)
15g.27926187A>GCA488959285OCA2c.2019T>C (p.Ile673=)
c.1947T>C (p.Ile649=)
c.2043T>C (p.Ile681=)
c.1971T>C (p.Ile657=)
c.1905T>C (p.Ile635=)
c.1848T>C (p.Ile616=)
15g.27926187A>TCA488959286OCA2c.2019T>A (p.Ile673=)
c.1947T>A (p.Ile649=)
c.2043T>A (p.Ile681=)
c.1971T>A (p.Ile657=)
c.1905T>A (p.Ile635=)
c.1848T>A (p.Ile616=)
15g.27926188A>CCA391361159OCA2c.2018T>G (p.Ile673Ser)
c.1946T>G (p.Ile649Ser)
c.2042T>G (p.Ile681Ser)
c.1970T>G (p.Ile657Ser)
c.1904T>G (p.Ile635Ser)
c.1847T>G (p.Ile616Ser)
15g.27926188A>GCA391361161OCA2c.2018T>C (p.Ile673Thr)
c.1946T>C (p.Ile649Thr)
c.2042T>C (p.Ile681Thr)
c.1970T>C (p.Ile657Thr)
c.1904T>C (p.Ile635Thr)
c.1847T>C (p.Ile616Thr)
15g.27926188A>TCA391361163OCA2c.2018T>A (p.Ile673Asn)
c.1946T>A (p.Ile649Asn)
c.2042T>A (p.Ile681Asn)
c.1970T>A (p.Ile657Asn)
c.1904T>A (p.Ile635Asn)
c.1847T>A (p.Ile616Asn)
ClinVar
15g.27926189T>ACA391361165OCA2c.2017A>T (p.Ile673Phe)
c.1945A>T (p.Ile649Phe)
c.2041A>T (p.Ile681Phe)
c.1969A>T (p.Ile657Phe)
c.1903A>T (p.Ile635Phe)
c.1846A>T (p.Ile616Phe)
15g.27926189T>CCA391361167OCA2c.2017A>G (p.Ile673Val)
c.1945A>G (p.Ile649Val)
c.2041A>G (p.Ile681Val)
c.1969A>G (p.Ile657Val)
c.1903A>G (p.Ile635Val)
c.1846A>G (p.Ile616Val)
dbSNP gnomAD v2 gnomAD v4
15g.27926189T>GCA391361169OCA2c.2017A>C (p.Ile673Leu)
c.1945A>C (p.Ile649Leu)
c.2041A>C (p.Ile681Leu)
c.1969A>C (p.Ile657Leu)
c.1903A>C (p.Ile635Leu)
c.1846A>C (p.Ile616Leu)
15g.27926189T=CA2166365079OCA2c.2017A= (p.Ile673=)
c.1945A= (p.Ile649=)
c.2041A= (p.Ile681=)
c.1969A= (p.Ile657=)
c.1903A= (p.Ile635=)
c.1846A= (p.Ile616=)
15g.27926190T>ACA488959287OCA2c.2016A>T (p.Ile672=)
c.1944A>T (p.Ile648=)
c.2040A>T (p.Ile680=)
c.1968A>T (p.Ile656=)
c.1902A>T (p.Ile634=)
c.1845A>T (p.Ile615=)
15g.27926190T>CCA391361171OCA2c.2016A>G (p.Ile672Met)
c.1944A>G (p.Ile648Met)
c.2040A>G (p.Ile680Met)
c.1968A>G (p.Ile656Met)
c.1902A>G (p.Ile634Met)
c.1845A>G (p.Ile615Met)
dbSNP gnomAD v4
15g.27926190T>GCA488959288OCA2c.2016A>C (p.Ile672=)
c.1944A>C (p.Ile648=)
c.2040A>C (p.Ile680=)
c.1968A>C (p.Ile656=)
c.1902A>C (p.Ile634=)
c.1845A>C (p.Ile615=)
15g.27926190T=CA2166365080OCA2c.2016A= (p.Ile672=)
c.1944A= (p.Ile648=)
c.2040A= (p.Ile680=)
c.1968A= (p.Ile656=)
c.1902A= (p.Ile634=)
c.1845A= (p.Ile615=)
15g.27926190_27926192delinsACA2695197229OCA2c.2014_2016delinsT (p.Ile672TyrfsTer?)
c.1942_1944delinsT (p.Ile648TyrfsTer?)
c.2038_2040delinsT (p.Ile680TyrfsTer?)
c.1966_1968delinsT (p.Ile656TyrfsTer?)
c.1900_1902delinsT (p.Ile634TyrfsTer?)
c.1843_1845delinsT (p.Ile615TyrfsTer?)
ClinVar
15g.27926191A>CCA391361181OCA2c.2015T>G (p.Ile672Arg)
c.1943T>G (p.Ile648Arg)
c.2039T>G (p.Ile680Arg)
c.1967T>G (p.Ile656Arg)
c.1901T>G (p.Ile634Arg)
c.1844T>G (p.Ile615Arg)
15g.27926191A>GCA391361177OCA2c.2015T>C (p.Ile672Thr)
c.1943T>C (p.Ile648Thr)
c.2039T>C (p.Ile680Thr)
c.1967T>C (p.Ile656Thr)
c.1901T>C (p.Ile634Thr)
c.1844T>C (p.Ile615Thr)
15g.27926191A>TCA391361179OCA2c.2015T>A (p.Ile672Lys)
c.1943T>A (p.Ile648Lys)
c.2039T>A (p.Ile680Lys)
c.1967T>A (p.Ile656Lys)
c.1901T>A (p.Ile634Lys)
c.1844T>A (p.Ile615Lys)
15g.27926192_27926196delCA2739278386OCA2c.2011_2015del (p.Glu671AsnfsTer?)
c.1939_1943del (p.Glu647AsnfsTer?)
c.2035_2039del (p.Glu679AsnfsTer?)
c.1963_1967del (p.Glu655AsnfsTer?)
c.1897_1901del (p.Glu633AsnfsTer?)
c.1840_1844del (p.Glu614AsnfsTer?)
ClinVar
15g.27926192T>ACA391361184OCA2c.2014A>T (p.Ile672Leu)
c.1942A>T (p.Ile648Leu)
c.2038A>T (p.Ile680Leu)
c.1966A>T (p.Ile656Leu)
c.1900A>T (p.Ile634Leu)
c.1843A>T (p.Ile615Leu)
15g.27926192T>CCA391361186OCA2c.2014A>G (p.Ile672Val)
c.1942A>G (p.Ile648Val)
c.2038A>G (p.Ile680Val)
c.1966A>G (p.Ile656Val)
c.1900A>G (p.Ile634Val)
c.1843A>G (p.Ile615Val)
dbSNP gnomAD v4
15g.27926192T>GCA391361188OCA2c.2014A>C (p.Ile672Leu)
c.1942A>C (p.Ile648Leu)
c.2038A>C (p.Ile680Leu)
c.1966A>C (p.Ile656Leu)
c.1900A>C (p.Ile634Leu)
c.1843A>C (p.Ile615Leu)
15g.27926192T=CA2166365081OCA2c.2014A= (p.Ile672=)
c.1942A= (p.Ile648=)
c.2038A= (p.Ile680=)
c.1966A= (p.Ile656=)
c.1900A= (p.Ile634=)
c.1843A= (p.Ile615=)
15g.27926193C>ACA391361190OCA2c.2013G>T (p.Glu671Asp)
c.1941G>T (p.Glu647Asp)
c.2037G>T (p.Glu679Asp)
c.1965G>T (p.Glu655Asp)
c.1899G>T (p.Glu633Asp)
c.1842G>T (p.Glu614Asp)
15g.27926193C>GCA391361192OCA2c.2013G>C (p.Glu671Asp)
c.1941G>C (p.Glu647Asp)
c.2037G>C (p.Glu679Asp)
c.1965G>C (p.Glu655Asp)
c.1899G>C (p.Glu633Asp)
c.1842G>C (p.Glu614Asp)
15g.27926193C>TCA488959290OCA2c.2013G>A (p.Glu671=)
c.1941G>A (p.Glu647=)
c.2037G>A (p.Glu679=)
c.1965G>A (p.Glu655=)
c.1899G>A (p.Glu633=)
c.1842G>A (p.Glu614=)
gnomAD v4
15g.27926194T>ACA277382OCA2c.2012A>T (p.Glu671Val)
c.1940A>T (p.Glu647Val)
c.2036A>T (p.Glu679Val)
c.1964A>T (p.Glu655Val)
c.1898A>T (p.Glu633Val)
c.1841A>T (p.Glu614Val)
ClinVar dbSNP
15g.27926194T>CCA391361195OCA2c.2012A>G (p.Glu671Gly)
c.1940A>G (p.Glu647Gly)
c.2036A>G (p.Glu679Gly)
c.1964A>G (p.Glu655Gly)
c.1898A>G (p.Glu633Gly)
c.1841A>G (p.Glu614Gly)
dbSNP gnomAD v2 gnomAD v4
15g.27926194T>GCA391361198OCA2c.2012A>C (p.Glu671Ala)
c.1940A>C (p.Glu647Ala)
c.2036A>C (p.Glu679Ala)
c.1964A>C (p.Glu655Ala)
c.1898A>C (p.Glu633Ala)
c.1841A>C (p.Glu614Ala)
gnomAD v4
15g.27926194T=CA2166365082OCA2c.2012A= (p.Glu671=)
c.1940A= (p.Glu647=)
c.2036A= (p.Glu679=)
c.1964A= (p.Glu655=)
c.1898A= (p.Glu633=)
c.1841A= (p.Glu614=)
15g.27926195C>ACA391361200OCA2c.2011G>T (p.Glu671Ter)
c.1939G>T (p.Glu647Ter)
c.2035G>T (p.Glu679Ter)
c.1963G>T (p.Glu655Ter)
c.1897G>T (p.Glu633Ter)
c.1840G>T (p.Glu614Ter)
15g.27926195C>GCA391361201OCA2c.2011G>C (p.Glu671Gln)
c.1939G>C (p.Glu647Gln)
c.2035G>C (p.Glu679Gln)
c.1963G>C (p.Glu655Gln)
c.1897G>C (p.Glu633Gln)
c.1840G>C (p.Glu614Gln)
15g.27926195C>TCA391361203OCA2c.2011G>A (p.Glu671Lys)
c.1939G>A (p.Glu647Lys)
c.2035G>A (p.Glu679Lys)
c.1963G>A (p.Glu655Lys)
c.1897G>A (p.Glu633Lys)
c.1840G>A (p.Glu614Lys)
gnomAD v4
15g.27926196A=CA2166365083OCA2c.2010T= (p.Phe670=)
c.1938T= (p.Phe646=)
c.2034T= (p.Phe678=)
c.1962T= (p.Phe654=)
c.1896T= (p.Phe632=)
c.1839T= (p.Phe613=)
15g.27926196A>CCA391361211OCA2c.2010T>G (p.Phe670Leu)
c.1938T>G (p.Phe646Leu)
c.2034T>G (p.Phe678Leu)
c.1962T>G (p.Phe654Leu)
c.1896T>G (p.Phe632Leu)
c.1839T>G (p.Phe613Leu)
15g.27926196A>GCA7438793OCA2c.2010T>C (p.Phe670=)
c.1938T>C (p.Phe646=)
c.2034T>C (p.Phe678=)
c.1962T>C (p.Phe654=)
c.1896T>C (p.Phe632=)
c.1839T>C (p.Phe613=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926196A>TCA391361207OCA2c.2010T>A (p.Phe670Leu)
c.1938T>A (p.Phe646Leu)
c.2034T>A (p.Phe678Leu)
c.1962T>A (p.Phe654Leu)
c.1896T>A (p.Phe632Leu)
c.1839T>A (p.Phe613Leu)
15g.27926197A>CCA391361213OCA2c.2009T>G (p.Phe670Cys)
c.1937T>G (p.Phe646Cys)
c.2033T>G (p.Phe678Cys)
c.1961T>G (p.Phe654Cys)
c.1895T>G (p.Phe632Cys)
c.1838T>G (p.Phe613Cys)
15g.27926197A>GCA391361215OCA2c.2009T>C (p.Phe670Ser)
c.1937T>C (p.Phe646Ser)
c.2033T>C (p.Phe678Ser)
c.1961T>C (p.Phe654Ser)
c.1895T>C (p.Phe632Ser)
c.1838T>C (p.Phe613Ser)
15g.27926197A>TCA391361217OCA2c.2009T>A (p.Phe670Tyr)
c.1937T>A (p.Phe646Tyr)
c.2033T>A (p.Phe678Tyr)
c.1961T>A (p.Phe654Tyr)
c.1895T>A (p.Phe632Tyr)
c.1838T>A (p.Phe613Tyr)
15g.27926198A>CCA391361219OCA2c.2008T>G (p.Phe670Val)
c.1936T>G (p.Phe646Val)
c.2032T>G (p.Phe678Val)
c.1960T>G (p.Phe654Val)
c.1894T>G (p.Phe632Val)
c.1837T>G (p.Phe613Val)
15g.27926198A>GCA391361220OCA2c.2008T>C (p.Phe670Leu)
c.1936T>C (p.Phe646Leu)
c.2032T>C (p.Phe678Leu)
c.1960T>C (p.Phe654Leu)
c.1894T>C (p.Phe632Leu)
c.1837T>C (p.Phe613Leu)
15g.27926198A>TCA391361221OCA2c.2008T>A (p.Phe670Ile)
c.1936T>A (p.Phe646Ile)
c.2032T>A (p.Phe678Ile)
c.1960T>A (p.Phe654Ile)
c.1894T>A (p.Phe632Ile)
c.1837T>A (p.Phe613Ile)
15g.27926199A>CCA391361222OCA2c.2007T>G (p.Asp669Glu)
c.1935T>G (p.Asp645Glu)
c.2031T>G (p.Asp677Glu)
c.1959T>G (p.Asp653Glu)
c.1893T>G (p.Asp631Glu)
c.1836T>G (p.Asp612Glu)
15g.27926199A>GCA488959291OCA2c.2007T>C (p.Asp669=)
c.1935T>C (p.Asp645=)
c.2031T>C (p.Asp677=)
c.1959T>C (p.Asp653=)
c.1893T>C (p.Asp631=)
c.1836T>C (p.Asp612=)
ClinVar gnomAD v4
15g.27926199A>TCA391361225OCA2c.2007T>A (p.Asp669Glu)
c.1935T>A (p.Asp645Glu)
c.2031T>A (p.Asp677Glu)
c.1959T>A (p.Asp653Glu)
c.1893T>A (p.Asp631Glu)
c.1836T>A (p.Asp612Glu)
15g.27926200T>ACA391361230OCA2c.2006A>T (p.Asp669Val)
c.1934A>T (p.Asp645Val)
c.2030A>T (p.Asp677Val)
c.1958A>T (p.Asp653Val)
c.1892A>T (p.Asp631Val)
c.1835A>T (p.Asp612Val)
15g.27926200T>CCA391361231OCA2c.2006A>G (p.Asp669Gly)
c.1934A>G (p.Asp645Gly)
c.2030A>G (p.Asp677Gly)
c.1958A>G (p.Asp653Gly)
c.1892A>G (p.Asp631Gly)
c.1835A>G (p.Asp612Gly)
15g.27926200T>GCA391361232OCA2c.2006A>C (p.Asp669Ala)
c.1934A>C (p.Asp645Ala)
c.2030A>C (p.Asp677Ala)
c.1958A>C (p.Asp653Ala)
c.1892A>C (p.Asp631Ala)
c.1835A>C (p.Asp612Ala)
15g.27926201C>ACA7438794OCA2c.2005G>T (p.Asp669Tyr)
c.1933G>T (p.Asp645Tyr)
c.2029G>T (p.Asp677Tyr)
c.1957G>T (p.Asp653Tyr)
c.1891G>T (p.Asp631Tyr)
c.1834G>T (p.Asp612Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.27926201C=CA2166365084OCA2c.2005G= (p.Asp669=)
c.1933G= (p.Asp645=)
c.2029G= (p.Asp677=)
c.1957G= (p.Asp653=)
c.1891G= (p.Asp631=)
c.1834G= (p.Asp612=)
15g.27926201C>GCA391361239OCA2c.2005G>C (p.Asp669His)
c.1933G>C (p.Asp645His)
c.2029G>C (p.Asp677His)
c.1957G>C (p.Asp653His)
c.1891G>C (p.Asp631His)
c.1834G>C (p.Asp612His)
15g.27926201C>TCA391361234OCA2c.2005G>A (p.Asp669Asn)
c.1933G>A (p.Asp645Asn)
c.2029G>A (p.Asp677Asn)
c.1957G>A (p.Asp653Asn)
c.1891G>A (p.Asp631Asn)
c.1834G>A (p.Asp612Asn)
15g.27926202A>CCA391361242OCA2c.2004T>G (p.His668Gln)
c.1932T>G (p.His644Gln)
c.2028T>G (p.His676Gln)
c.1956T>G (p.His652Gln)
c.1890T>G (p.His630Gln)
c.1833T>G (p.His611Gln)
15g.27926202A>GCA488959293OCA2c.2004T>C (p.His668=)
c.1932T>C (p.His644=)
c.2028T>C (p.His676=)
c.1956T>C (p.His652=)
c.1890T>C (p.His630=)
c.1833T>C (p.His611=)
gnomAD v4
15g.27926202A>TCA391361243OCA2c.2004T>A (p.His668Gln)
c.1932T>A (p.His644Gln)
c.2028T>A (p.His676Gln)
c.1956T>A (p.His652Gln)
c.1890T>A (p.His630Gln)
c.1833T>A (p.His611Gln)
15g.27926203T>ACA391361244OCA2c.2003A>T (p.His668Leu)
c.1931A>T (p.His644Leu)
c.2027A>T (p.His676Leu)
c.1955A>T (p.His652Leu)
c.1889A>T (p.His630Leu)
c.1832A>T (p.His611Leu)
15g.27926203T>CCA391361246OCA2c.2003A>G (p.His668Arg)
c.1931A>G (p.His644Arg)
c.2027A>G (p.His676Arg)
c.1955A>G (p.His652Arg)
c.1889A>G (p.His630Arg)
c.1832A>G (p.His611Arg)
gnomAD v4
15g.27926203T>GCA391361248OCA2c.2003A>C (p.His668Pro)
c.1931A>C (p.His644Pro)
c.2027A>C (p.His676Pro)
c.1955A>C (p.His652Pro)
c.1889A>C (p.His630Pro)
c.1832A>C (p.His611Pro)
15g.27926204G>ACA391361250OCA2c.2002C>T (p.His668Tyr)
c.1930C>T (p.His644Tyr)
c.2026C>T (p.His676Tyr)
c.1954C>T (p.His652Tyr)
c.1888C>T (p.His630Tyr)
c.1831C>T (p.His611Tyr)
15g.27926204G>CCA391361252OCA2c.2002C>G (p.His668Asp)
c.1930C>G (p.His644Asp)
c.2026C>G (p.His676Asp)
c.1954C>G (p.His652Asp)
c.1888C>G (p.His630Asp)
c.1831C>G (p.His611Asp)
15g.27926204G>TCA391361254OCA2c.2002C>A (p.His668Asn)
c.1930C>A (p.His644Asn)
c.2026C>A (p.His676Asn)
c.1954C>A (p.His652Asn)
c.1888C>A (p.His630Asn)
c.1831C>A (p.His611Asn)
15g.27926205A>CCA391361257OCA2c.2001T>G (p.Ile667Met)
c.1929T>G (p.Ile643Met)
c.2025T>G (p.Ile675Met)
c.1953T>G (p.Ile651Met)
c.1887T>G (p.Ile629Met)
c.1830T>G (p.Ile610Met)
15g.27926205A>GCA488959295OCA2c.2001T>C (p.Ile667=)
c.1929T>C (p.Ile643=)
c.2025T>C (p.Ile675=)
c.1953T>C (p.Ile651=)
c.1887T>C (p.Ile629=)
c.1830T>C (p.Ile610=)
15g.27926205A>TCA488959296OCA2c.2001T>A (p.Ile667=)
c.1929T>A (p.Ile643=)
c.2025T>A (p.Ile675=)
c.1953T>A (p.Ile651=)
c.1887T>A (p.Ile629=)
c.1830T>A (p.Ile610=)
15g.27926206A>CCA391361259OCA2c.2000T>G (p.Ile667Ser)
c.1928T>G (p.Ile643Ser)
c.2024T>G (p.Ile675Ser)
c.1952T>G (p.Ile651Ser)
c.1886T>G (p.Ile629Ser)
c.1829T>G (p.Ile610Ser)
gnomAD v4
15g.27926206A>GCA391361260OCA2c.2000T>C (p.Ile667Thr)
c.1928T>C (p.Ile643Thr)
c.2024T>C (p.Ile675Thr)
c.1952T>C (p.Ile651Thr)
c.1886T>C (p.Ile629Thr)
c.1829T>C (p.Ile610Thr)
gnomAD v4
15g.27926206A>TCA391361262OCA2c.2000T>A (p.Ile667Asn)
c.1928T>A (p.Ile643Asn)
c.2024T>A (p.Ile675Asn)
c.1952T>A (p.Ile651Asn)
c.1886T>A (p.Ile629Asn)
c.1829T>A (p.Ile610Asn)
15g.27926207delCA2627379634OCA2c.1999del (p.Ile667PhefsTer6)
c.1927del (p.Ile643PhefsTer6)
c.2023del (p.Ile675PhefsTer6)
c.1951del (p.Ile651PhefsTer6)
c.1885del (p.Ile629PhefsTer6)
c.1828del (p.Ile610PhefsTer6)
gnomAD v4
15g.27926207T>ACA7438795OCA2c.1999A>T (p.Ile667Phe)
c.1927A>T (p.Ile643Phe)
c.2023A>T (p.Ile675Phe)
c.1951A>T (p.Ile651Phe)
c.1885A>T (p.Ile629Phe)
c.1828A>T (p.Ile610Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.27926207T>CCA391361267OCA2c.1999A>G (p.Ile667Val)
c.1927A>G (p.Ile643Val)
c.2023A>G (p.Ile675Val)
c.1951A>G (p.Ile651Val)
c.1885A>G (p.Ile629Val)
c.1828A>G (p.Ile610Val)
ClinVar dbSNP gnomAD v4
15g.27926207T>GCA391361265OCA2c.1999A>C (p.Ile667Leu)
c.1927A>C (p.Ile643Leu)
c.2023A>C (p.Ile675Leu)
c.1951A>C (p.Ile651Leu)
c.1885A>C (p.Ile629Leu)
c.1828A>C (p.Ile610Leu)
15g.27926207T=CA2166365085OCA2c.1999A= (p.Ile667=)
c.1927A= (p.Ile643=)
c.2023A= (p.Ile675=)
c.1951A= (p.Ile651=)
c.1885A= (p.Ile629=)
c.1828A= (p.Ile610=)
15g.27926208A=CA2166365086OCA2c.1998T= (p.Asp666=)
c.1926T= (p.Asp642=)
c.2022T= (p.Asp674=)
c.1950T= (p.Asp650=)
c.1884T= (p.Asp628=)
c.1827T= (p.Asp609=)
15g.27926208A>CCA391361270OCA2c.1998T>G (p.Asp666Glu)
c.1926T>G (p.Asp642Glu)
c.2022T>G (p.Asp674Glu)
c.1950T>G (p.Asp650Glu)
c.1884T>G (p.Asp628Glu)
c.1827T>G (p.Asp609Glu)
dbSNP
15g.27926208A>GCA488959298OCA2c.1998T>C (p.Asp666=)
c.1926T>C (p.Asp642=)
c.2022T>C (p.Asp674=)
c.1950T>C (p.Asp650=)
c.1884T>C (p.Asp628=)
c.1827T>C (p.Asp609=)
15g.27926208A>TCA391361271OCA2c.1998T>A (p.Asp666Glu)
c.1926T>A (p.Asp642Glu)
c.2022T>A (p.Asp674Glu)
c.1950T>A (p.Asp650Glu)
c.1884T>A (p.Asp628Glu)
c.1827T>A (p.Asp609Glu)
15g.27926209T>ACA391361272OCA2c.1997A>T (p.Asp666Val)
c.1925A>T (p.Asp642Val)
c.2021A>T (p.Asp674Val)
c.1949A>T (p.Asp650Val)
c.1883A>T (p.Asp628Val)
c.1826A>T (p.Asp609Val)
15g.27926209T>CCA391361274OCA2c.1997A>G (p.Asp666Gly)
c.1925A>G (p.Asp642Gly)
c.2021A>G (p.Asp674Gly)
c.1949A>G (p.Asp650Gly)
c.1883A>G (p.Asp628Gly)
c.1826A>G (p.Asp609Gly)
15g.27926209T>GCA391361276OCA2c.1997A>C (p.Asp666Ala)
c.1925A>C (p.Asp642Ala)
c.2021A>C (p.Asp674Ala)
c.1949A>C (p.Asp650Ala)
c.1883A>C (p.Asp628Ala)
c.1826A>C (p.Asp609Ala)
15g.27926210C>ACA391361277OCA2c.1996G>T (p.Asp666Tyr)
c.1924G>T (p.Asp642Tyr)
c.2020G>T (p.Asp674Tyr)
c.1948G>T (p.Asp650Tyr)
c.1882G>T (p.Asp628Tyr)
c.1825G>T (p.Asp609Tyr)
15g.27926210C>GCA391361278OCA2c.1996G>C (p.Asp666His)
c.1924G>C (p.Asp642His)
c.2020G>C (p.Asp674His)
c.1948G>C (p.Asp650His)
c.1882G>C (p.Asp628His)
c.1825G>C (p.Asp609His)
15g.27926210C>TCA391361279OCA2c.1996G>A (p.Asp666Asn)
c.1924G>A (p.Asp642Asn)
c.2020G>A (p.Asp674Asn)
c.1948G>A (p.Asp650Asn)
c.1882G>A (p.Asp628Asn)
c.1825G>A (p.Asp609Asn)
15g.27926211A=CA2166365087OCA2c.1995T= (p.Ala665=)
c.1923T= (p.Ala641=)
c.2019T= (p.Ala673=)
c.1947T= (p.Ala649=)
c.1881T= (p.Ala627=)
c.1824T= (p.Ala608=)
15g.27926211A>CCA488959299OCA2c.1995T>G (p.Ala665=)
c.1923T>G (p.Ala641=)
c.2019T>G (p.Ala673=)
c.1947T>G (p.Ala649=)
c.1881T>G (p.Ala627=)
c.1824T>G (p.Ala608=)
15g.27926211A>GCA488959300OCA2c.1995T>C (p.Ala665=)
c.1923T>C (p.Ala641=)
c.2019T>C (p.Ala673=)
c.1947T>C (p.Ala649=)
c.1881T>C (p.Ala627=)
c.1824T>C (p.Ala608=)
15g.27926211A>TCA488959301OCA2c.1995T>A (p.Ala665=)
c.1923T>A (p.Ala641=)
c.2019T>A (p.Ala673=)
c.1947T>A (p.Ala649=)
c.1881T>A (p.Ala627=)
c.1824T>A (p.Ala608=)
dbSNP gnomAD v2 gnomAD v4
15g.27926211_27926212delCA2695219757OCA2c.1994_1995del (p.Ala665GlyfsTer4)
c.1922_1923del (p.Ala641GlyfsTer4)
c.2018_2019del (p.Ala673GlyfsTer4)
c.1946_1947del (p.Ala649GlyfsTer4)
c.1880_1881del (p.Ala627GlyfsTer4)
c.1823_1824del (p.Ala608GlyfsTer4)
15g.27926212G>ACA391361281OCA2c.1994C>T (p.Ala665Val)
c.1922C>T (p.Ala641Val)
c.2018C>T (p.Ala673Val)
c.1946C>T (p.Ala649Val)
c.1880C>T (p.Ala627Val)
c.1823C>T (p.Ala608Val)
15g.27926212G>CCA391361282OCA2c.1994C>G (p.Ala665Gly)
c.1922C>G (p.Ala641Gly)
c.2018C>G (p.Ala673Gly)
c.1946C>G (p.Ala649Gly)
c.1880C>G (p.Ala627Gly)
c.1823C>G (p.Ala608Gly)
15g.27926212G>TCA391361284OCA2c.1994C>A (p.Ala665Asp)
c.1922C>A (p.Ala641Asp)
c.2018C>A (p.Ala673Asp)
c.1946C>A (p.Ala649Asp)
c.1880C>A (p.Ala627Asp)
c.1823C>A (p.Ala608Asp)
15g.27926213C>ACA391361285OCA2c.1993G>T (p.Ala665Ser)
c.1921G>T (p.Ala641Ser)
c.2017G>T (p.Ala673Ser)
c.1945G>T (p.Ala649Ser)
c.1879G>T (p.Ala627Ser)
c.1822G>T (p.Ala608Ser)
COSMIC
15g.27926213C>GCA391361286OCA2c.1993G>C (p.Ala665Pro)
c.1921G>C (p.Ala641Pro)
c.2017G>C (p.Ala673Pro)
c.1945G>C (p.Ala649Pro)
c.1879G>C (p.Ala627Pro)
c.1822G>C (p.Ala608Pro)
15g.27926213C>TCA391361287OCA2c.1993G>A (p.Ala665Thr)
c.1921G>A (p.Ala641Thr)
c.2017G>A (p.Ala673Thr)
c.1945G>A (p.Ala649Thr)
c.1879G>A (p.Ala627Thr)
c.1822G>A (p.Ala608Thr)
15g.27926214T>ACA391361292OCA2c.1992A>T (p.Leu664Phe)
c.1920A>T (p.Leu640Phe)
c.2016A>T (p.Leu672Phe)
c.1944A>T (p.Leu648Phe)
c.1878A>T (p.Leu626Phe)
c.1821A>T (p.Leu607Phe)
15g.27926214T>CCA488959305OCA2c.1992A>G (p.Leu664=)
c.1920A>G (p.Leu640=)
c.2016A>G (p.Leu672=)
c.1944A>G (p.Leu648=)
c.1878A>G (p.Leu626=)
c.1821A>G (p.Leu607=)
15g.27926214T>GCA391361289OCA2c.1992A>C (p.Leu664Phe)
c.1920A>C (p.Leu640Phe)
c.2016A>C (p.Leu672Phe)
c.1944A>C (p.Leu648Phe)
c.1878A>C (p.Leu626Phe)
c.1821A>C (p.Leu607Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.27926214T=CA2166365088OCA2c.1992A= (p.Leu664=)
c.1920A= (p.Leu640=)
c.2016A= (p.Leu672=)
c.1944A= (p.Leu648=)
c.1878A= (p.Leu626=)
c.1821A= (p.Leu607=)
15g.27926215A>CCA391361294OCA2c.1991T>G (p.Leu664Ter)
c.1919T>G (p.Leu640Ter)
c.2015T>G (p.Leu672Ter)
c.1943T>G (p.Leu648Ter)
c.1877T>G (p.Leu626Ter)
c.1820T>G (p.Leu607Ter)
15g.27926215A>GCA391361296OCA2c.1991T>C (p.Leu664Ser)
c.1919T>C (p.Leu640Ser)
c.2015T>C (p.Leu672Ser)
c.1943T>C (p.Leu648Ser)
c.1877T>C (p.Leu626Ser)
c.1820T>C (p.Leu607Ser)
15g.27926215A>TCA391361298OCA2c.1991T>A (p.Leu664Ter)
c.1919T>A (p.Leu640Ter)
c.2015T>A (p.Leu672Ter)
c.1943T>A (p.Leu648Ter)
c.1877T>A (p.Leu626Ter)
c.1820T>A (p.Leu607Ter)
15g.27926216A>CCA391361300OCA2c.1990T>G (p.Leu664Val)
c.1918T>G (p.Leu640Val)
c.2014T>G (p.Leu672Val)
c.1942T>G (p.Leu648Val)
c.1876T>G (p.Leu626Val)
c.1819T>G (p.Leu607Val)
15g.27926216A>GCA488959307OCA2c.1990T>C (p.Leu664=)
c.1918T>C (p.Leu640=)
c.2014T>C (p.Leu672=)
c.1942T>C (p.Leu648=)
c.1876T>C (p.Leu626=)
c.1819T>C (p.Leu607=)
15g.27926216A>TCA391361303OCA2c.1990T>A (p.Leu664Ile)
c.1918T>A (p.Leu640Ile)
c.2014T>A (p.Leu672Ile)
c.1942T>A (p.Leu648Ile)
c.1876T>A (p.Leu626Ile)
c.1819T>A (p.Leu607Ile)
15g.27926217A>CCA391361305OCA2c.1989T>G (p.Ile663Met)
c.1917T>G (p.Ile639Met)
c.2013T>G (p.Ile671Met)
c.1941T>G (p.Ile647Met)
c.1875T>G (p.Ile625Met)
c.1818T>G (p.Ile606Met)
15g.27926217A>GCA488959308OCA2c.1989T>C (p.Ile663=)
c.1917T>C (p.Ile639=)
c.2013T>C (p.Ile671=)
c.1941T>C (p.Ile647=)
c.1875T>C (p.Ile625=)
c.1818T>C (p.Ile606=)
15g.27926217A>TCA488959309OCA2c.1989T>A (p.Ile663=)
c.1917T>A (p.Ile639=)
c.2013T>A (p.Ile671=)
c.1941T>A (p.Ile647=)
c.1875T>A (p.Ile625=)
c.1818T>A (p.Ile606=)
15g.27926218A>CCA391361307OCA2c.1988T>G (p.Ile663Ser)
c.1916T>G (p.Ile639Ser)
c.2012T>G (p.Ile671Ser)
c.1940T>G (p.Ile647Ser)
c.1874T>G (p.Ile625Ser)
c.1817T>G (p.Ile606Ser)
15g.27926218A>GCA391361308OCA2c.1988T>C (p.Ile663Thr)
c.1916T>C (p.Ile639Thr)
c.2012T>C (p.Ile671Thr)
c.1940T>C (p.Ile647Thr)
c.1874T>C (p.Ile625Thr)
c.1817T>C (p.Ile606Thr)
15g.27926218A>TCA391361310OCA2c.1988T>A (p.Ile663Asn)
c.1916T>A (p.Ile639Asn)
c.2012T>A (p.Ile671Asn)
c.1940T>A (p.Ile647Asn)
c.1874T>A (p.Ile625Asn)
c.1817T>A (p.Ile606Asn)
15g.27926219T>ACA391361313OCA2c.1987A>T (p.Ile663Phe)
c.1915A>T (p.Ile639Phe)
c.2011A>T (p.Ile671Phe)
c.1939A>T (p.Ile647Phe)
c.1873A>T (p.Ile625Phe)
c.1816A>T (p.Ile606Phe)
15g.27926219T>CCA391361314OCA2c.1987A>G (p.Ile663Val)
c.1915A>G (p.Ile639Val)
c.2011A>G (p.Ile671Val)
c.1939A>G (p.Ile647Val)
c.1873A>G (p.Ile625Val)
c.1816A>G (p.Ile606Val)
gnomAD v4
15g.27926219T>GCA391361316OCA2c.1987A>C (p.Ile663Leu)
c.1915A>C (p.Ile639Leu)
c.2011A>C (p.Ile671Leu)
c.1939A>C (p.Ile647Leu)
c.1873A>C (p.Ile625Leu)
c.1816A>C (p.Ile606Leu)
15g.27926220T>ACA488959311OCA2c.1986A>T (p.Leu662=)
c.1914A>T (p.Leu638=)
c.2010A>T (p.Leu670=)
c.1938A>T (p.Leu646=)
c.1872A>T (p.Leu624=)
c.1815A>T (p.Leu605=)
15g.27926220T>CCA488959312OCA2c.1986A>G (p.Leu662=)
c.1914A>G (p.Leu638=)
c.2010A>G (p.Leu670=)
c.1938A>G (p.Leu646=)
c.1872A>G (p.Leu624=)
c.1815A>G (p.Leu605=)
15g.27926220T>GCA488959313OCA2c.1986A>C (p.Leu662=)
c.1914A>C (p.Leu638=)
c.2010A>C (p.Leu670=)
c.1938A>C (p.Leu646=)
c.1872A>C (p.Leu624=)
c.1815A>C (p.Leu605=)
15g.27926221A>CCA391361319OCA2c.1985T>G (p.Leu662Arg)
c.1913T>G (p.Leu638Arg)
c.2009T>G (p.Leu670Arg)
c.1937T>G (p.Leu646Arg)
c.1871T>G (p.Leu624Arg)
c.1814T>G (p.Leu605Arg)
15g.27926221A>GCA391361320OCA2c.1985T>C (p.Leu662Pro)
c.1913T>C (p.Leu638Pro)
c.2009T>C (p.Leu670Pro)
c.1937T>C (p.Leu646Pro)
c.1871T>C (p.Leu624Pro)
c.1814T>C (p.Leu605Pro)
15g.27926221A>TCA391361318OCA2c.1985T>A (p.Leu662Gln)
c.1913T>A (p.Leu638Gln)
c.2009T>A (p.Leu670Gln)
c.1937T>A (p.Leu646Gln)
c.1871T>A (p.Leu624Gln)
c.1814T>A (p.Leu605Gln)
ClinVar dbSNP
15g.27926222G>ACA488959314OCA2c.1984C>T (p.Leu662=)
c.1912C>T (p.Leu638=)
c.2008C>T (p.Leu670=)
c.1936C>T (p.Leu646=)
c.1870C>T (p.Leu624=)
c.1813C>T (p.Leu605=)
15g.27926222G>CCA391361322OCA2c.1984C>G (p.Leu662Val)
c.1912C>G (p.Leu638Val)
c.2008C>G (p.Leu670Val)
c.1936C>G (p.Leu646Val)
c.1870C>G (p.Leu624Val)
c.1813C>G (p.Leu605Val)
15g.27926222G>TCA391361323OCA2c.1984C>A (p.Leu662Ile)
c.1912C>A (p.Leu638Ile)
c.2008C>A (p.Leu670Ile)
c.1936C>A (p.Leu646Ile)
c.1870C>A (p.Leu624Ile)
c.1813C>A (p.Leu605Ile)
15g.27926223C>ACA391361326OCA2c.1983G>T (p.Leu661Phe)
c.1911G>T (p.Leu637Phe)
c.2007G>T (p.Leu669Phe)
c.1935G>T (p.Leu645Phe)
c.1869G>T (p.Leu623Phe)
c.1812G>T (p.Leu604Phe)
ClinVar dbSNP
15g.27926223C>GCA391361328OCA2c.1983G>C (p.Leu661Phe)
c.1911G>C (p.Leu637Phe)
c.2007G>C (p.Leu669Phe)
c.1935G>C (p.Leu645Phe)
c.1869G>C (p.Leu623Phe)
c.1812G>C (p.Leu604Phe)
15g.27926223C>TCA488959315OCA2c.1983G>A (p.Leu661=)
c.1911G>A (p.Leu637=)
c.2007G>A (p.Leu669=)
c.1935G>A (p.Leu645=)
c.1869G>A (p.Leu623=)
c.1812G>A (p.Leu604=)
15g.27926224A>CCA391361330OCA2c.1982T>G (p.Leu661Trp)
c.1910T>G (p.Leu637Trp)
c.2006T>G (p.Leu669Trp)
c.1934T>G (p.Leu645Trp)
c.1868T>G (p.Leu623Trp)
c.1811T>G (p.Leu604Trp)
15g.27926224A>GCA391361331OCA2c.1982T>C (p.Leu661Ser)
c.1910T>C (p.Leu637Ser)
c.2006T>C (p.Leu669Ser)
c.1934T>C (p.Leu645Ser)
c.1868T>C (p.Leu623Ser)
c.1811T>C (p.Leu604Ser)
15g.27926224A>TCA391361332OCA2c.1982T>A (p.Leu661Ter)
c.1910T>A (p.Leu637Ter)
c.2006T>A (p.Leu669Ter)
c.1934T>A (p.Leu645Ter)
c.1868T>A (p.Leu623Ter)
c.1811T>A (p.Leu604Ter)
15g.27926225A>CCA391361333OCA2c.1981T>G (p.Leu661Val)
c.1909T>G (p.Leu637Val)
c.2005T>G (p.Leu669Val)
c.1933T>G (p.Leu645Val)
c.1867T>G (p.Leu623Val)
c.1810T>G (p.Leu604Val)
15g.27926225A>GCA488959316OCA2c.1981T>C (p.Leu661=)
c.1909T>C (p.Leu637=)
c.2005T>C (p.Leu669=)
c.1933T>C (p.Leu645=)
c.1867T>C (p.Leu623=)
c.1810T>C (p.Leu604=)
gnomAD v4
15g.27926225A>TCA391361334OCA2c.1981T>A (p.Leu661Met)
c.1909T>A (p.Leu637Met)
c.2005T>A (p.Leu669Met)
c.1933T>A (p.Leu645Met)
c.1867T>A (p.Leu623Met)
c.1810T>A (p.Leu604Met)
15g.27926226C>ACA391361335OCA2c.1980G>T (p.Trp660Cys)
c.1908G>T (p.Trp636Cys)
c.2004G>T (p.Trp668Cys)
c.1932G>T (p.Trp644Cys)
c.1866G>T (p.Trp622Cys)
c.1809G>T (p.Trp603Cys)
ClinVar dbSNP
15g.27926226C=CA2166365089OCA2c.1980G= (p.Trp660=)
c.1908G= (p.Trp636=)
c.2004G= (p.Trp668=)
c.1932G= (p.Trp644=)
c.1866G= (p.Trp622=)
c.1809G= (p.Trp603=)
15g.27926226C>GCA391361336OCA2c.1980G>C (p.Trp660Cys)
c.1908G>C (p.Trp636Cys)
c.2004G>C (p.Trp668Cys)
c.1932G>C (p.Trp644Cys)
c.1866G>C (p.Trp622Cys)
c.1809G>C (p.Trp603Cys)
15g.27926226C>TCA391361338OCA2c.1980G>A (p.Trp660Ter)
c.1908G>A (p.Trp636Ter)
c.2004G>A (p.Trp668Ter)
c.1932G>A (p.Trp644Ter)
c.1866G>A (p.Trp622Ter)
c.1809G>A (p.Trp603Ter)
ClinVar
15g.27926227C>ACA391361342OCA2c.1979G>T (p.Trp660Leu)
c.1907G>T (p.Trp636Leu)
c.2003G>T (p.Trp668Leu)
c.1931G>T (p.Trp644Leu)
c.1865G>T (p.Trp622Leu)
c.1808G>T (p.Trp603Leu)
15g.27926227C=CA2166365090OCA2c.1979G= (p.Trp660=)
c.1907G= (p.Trp636=)
c.2003G= (p.Trp668=)
c.1931G= (p.Trp644=)
c.1865G= (p.Trp622=)
c.1808G= (p.Trp603=)
15g.27926227C>GCA391361344OCA2c.1979G>C (p.Trp660Ser)
c.1907G>C (p.Trp636Ser)
c.2003G>C (p.Trp668Ser)
c.1931G>C (p.Trp644Ser)
c.1865G>C (p.Trp622Ser)
c.1808G>C (p.Trp603Ser)
dbSNP
15g.27926227C>TCA391361340OCA2c.1979G>A (p.Trp660Ter)
c.1907G>A (p.Trp636Ter)
c.2003G>A (p.Trp668Ter)
c.1931G>A (p.Trp644Ter)
c.1865G>A (p.Trp622Ter)
c.1808G>A (p.Trp603Ter)
ClinVar dbSNP
15g.27926228delCA2740097237OCA2c.1978del (p.Trp660GlyfsTer3)
c.1906del (p.Trp636GlyfsTer3)
c.2002del (p.Trp668GlyfsTer3)
c.1930del (p.Trp644GlyfsTer3)
c.1864del (p.Trp622GlyfsTer3)
c.1807del (p.Trp603GlyfsTer3)
ClinVar
15g.27926228A>CCA391361346OCA2c.1978T>G (p.Trp660Gly)
c.1906T>G (p.Trp636Gly)
c.2002T>G (p.Trp668Gly)
c.1930T>G (p.Trp644Gly)
c.1864T>G (p.Trp622Gly)
c.1807T>G (p.Trp603Gly)
15g.27926228A>GCA391361351OCA2c.1978T>C (p.Trp660Arg)
c.1906T>C (p.Trp636Arg)
c.2002T>C (p.Trp668Arg)
c.1930T>C (p.Trp644Arg)
c.1864T>C (p.Trp622Arg)
c.1807T>C (p.Trp603Arg)
15g.27926228A>TCA391361353OCA2c.1978T>A (p.Trp660Arg)
c.1906T>A (p.Trp636Arg)
c.2002T>A (p.Trp668Arg)
c.1930T>A (p.Trp644Arg)
c.1864T>A (p.Trp622Arg)
c.1807T>A (p.Trp603Arg)
15g.27926229G>ACA488959317OCA2c.1977C>T (p.Ile659=)
c.1905C>T (p.Ile635=)
c.2001C>T (p.Ile667=)
c.1929C>T (p.Ile643=)
c.1863C>T (p.Ile621=)
c.1806C>T (p.Ile602=)
15g.27926229G>CCA391361354OCA2c.1977C>G (p.Ile659Met)
c.1905C>G (p.Ile635Met)
c.2001C>G (p.Ile667Met)
c.1929C>G (p.Ile643Met)
c.1863C>G (p.Ile621Met)
c.1806C>G (p.Ile602Met)
15g.27926229G>TCA488959318OCA2c.1977C>A (p.Ile659=)
c.1905C>A (p.Ile635=)
c.2001C>A (p.Ile667=)
c.1929C>A (p.Ile643=)
c.1863C>A (p.Ile621=)
c.1806C>A (p.Ile602=)
15g.27926230A=CA2166365091OCA2c.1976T= (p.Ile659=)
c.1904T= (p.Ile635=)
c.2000T= (p.Ile667=)
c.1928T= (p.Ile643=)
c.1862T= (p.Ile621=)
c.1805T= (p.Ile602=)
15g.27926230A>CCA391361366OCA2c.1976T>G (p.Ile659Ser)
c.1904T>G (p.Ile635Ser)
c.2000T>G (p.Ile667Ser)
c.1928T>G (p.Ile643Ser)
c.1862T>G (p.Ile621Ser)
c.1805T>G (p.Ile602Ser)
15g.27926230A>GCA391361364OCA2c.1976T>C (p.Ile659Thr)
c.1904T>C (p.Ile635Thr)
c.2000T>C (p.Ile667Thr)
c.1928T>C (p.Ile643Thr)
c.1862T>C (p.Ile621Thr)
c.1805T>C (p.Ile602Thr)
dbSNP gnomAD v4
15g.27926230A>TCA391361362OCA2c.1976T>A (p.Ile659Asn)
c.1904T>A (p.Ile635Asn)
c.2000T>A (p.Ile667Asn)
c.1928T>A (p.Ile643Asn)
c.1862T>A (p.Ile621Asn)
c.1805T>A (p.Ile602Asn)
15g.27926231T>ACA391361368OCA2c.1975A>T (p.Ile659Phe)
c.1903A>T (p.Ile635Phe)
c.1999A>T (p.Ile667Phe)
c.1927A>T (p.Ile643Phe)
c.1861A>T (p.Ile621Phe)
c.1804A>T (p.Ile602Phe)
15g.27926231T>CCA391361370OCA2c.1975A>G (p.Ile659Val)
c.1903A>G (p.Ile635Val)
c.1999A>G (p.Ile667Val)
c.1927A>G (p.Ile643Val)
c.1861A>G (p.Ile621Val)
c.1804A>G (p.Ile602Val)
gnomAD v4 COSMIC
15g.27926231T>GCA391361372OCA2c.1975A>C (p.Ile659Leu)
c.1903A>C (p.Ile635Leu)
c.1999A>C (p.Ile667Leu)
c.1927A>C (p.Ile643Leu)
c.1861A>C (p.Ile621Leu)
c.1804A>C (p.Ile602Leu)
15g.27926232G>ACA488959319OCA2c.1974C>T (p.Ala658=)
c.1902C>T (p.Ala634=)
c.1998C>T (p.Ala666=)
c.1926C>T (p.Ala642=)
c.1860C>T (p.Ala620=)
c.1803C>T (p.Ala601=)
15g.27926232G>CCA488959321OCA2c.1974C>G (p.Ala658=)
c.1902C>G (p.Ala634=)
c.1998C>G (p.Ala666=)
c.1926C>G (p.Ala642=)
c.1860C>G (p.Ala620=)
c.1803C>G (p.Ala601=)
15g.27926232G>TCA488959320OCA2c.1974C>A (p.Ala658=)
c.1902C>A (p.Ala634=)
c.1998C>A (p.Ala666=)
c.1926C>A (p.Ala642=)
c.1860C>A (p.Ala620=)
c.1803C>A (p.Ala601=)
15g.27926233G>ACA267867207OCA2c.1973C>T (p.Ala658Val)
c.1901C>T (p.Ala634Val)
c.1997C>T (p.Ala666Val)
c.1925C>T (p.Ala642Val)
c.1859C>T (p.Ala620Val)
c.1802C>T (p.Ala601Val)
ClinVar dbSNP
15g.27926233G>CCA7438796OCA2c.1973C>G (p.Ala658Gly)
c.1901C>G (p.Ala634Gly)
c.1997C>G (p.Ala666Gly)
c.1925C>G (p.Ala642Gly)
c.1859C>G (p.Ala620Gly)
c.1802C>G (p.Ala601Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.27926233G=CA2166365092OCA2c.1973C= (p.Ala658=)
c.1901C= (p.Ala634=)
c.1997C= (p.Ala666=)
c.1925C= (p.Ala642=)
c.1859C= (p.Ala620=)
c.1802C= (p.Ala601=)
15g.27926233G>TCA391361377OCA2c.1973C>A (p.Ala658Asp)
c.1901C>A (p.Ala634Asp)
c.1997C>A (p.Ala666Asp)
c.1925C>A (p.Ala642Asp)
c.1859C>A (p.Ala620Asp)
c.1802C>A (p.Ala601Asp)
15g.27926234C>ACA391361382OCA2c.1972G>T (p.Ala658Ser)
c.1900G>T (p.Ala634Ser)
c.1996G>T (p.Ala666Ser)
c.1924G>T (p.Ala642Ser)
c.1858G>T (p.Ala620Ser)
c.1801G>T (p.Ala601Ser)
15g.27926234C=CA2166365093OCA2c.1972G= (p.Ala658=)
c.1900G= (p.Ala634=)
c.1996G= (p.Ala666=)
c.1924G= (p.Ala642=)
c.1858G= (p.Ala620=)
c.1801G= (p.Ala601=)
15g.27926234C>GCA391361380OCA2c.1972G>C (p.Ala658Pro)
c.1900G>C (p.Ala634Pro)
c.1996G>C (p.Ala666Pro)
c.1924G>C (p.Ala642Pro)
c.1858G>C (p.Ala620Pro)
c.1801G>C (p.Ala601Pro)
15g.27926234C>TCA391361379OCA2c.1972G>A (p.Ala658Thr)
c.1900G>A (p.Ala634Thr)
c.1996G>A (p.Ala666Thr)
c.1924G>A (p.Ala642Thr)
c.1858G>A (p.Ala620Thr)
c.1801G>A (p.Ala601Thr)
dbSNP gnomAD v3 gnomAD v4
15g.27926235A=CA2166365094OCA2c.1971T= (p.Gly657=)
c.1899T= (p.Gly633=)
c.1995T= (p.Gly665=)
c.1923T= (p.Gly641=)
c.1857T= (p.Gly619=)
c.1800T= (p.Gly600=)
15g.27926235A>CCA488959322OCA2c.1971T>G (p.Gly657=)
c.1899T>G (p.Gly633=)
c.1995T>G (p.Gly665=)
c.1923T>G (p.Gly641=)
c.1857T>G (p.Gly619=)
c.1800T>G (p.Gly600=)
15g.27926235A>GCA488959324OCA2c.1971T>C (p.Gly657=)
c.1899T>C (p.Gly633=)
c.1995T>C (p.Gly665=)
c.1923T>C (p.Gly641=)
c.1857T>C (p.Gly619=)
c.1800T>C (p.Gly600=)
dbSNP
15g.27926235A>TCA488959323OCA2c.1971T>A (p.Gly657=)
c.1899T>A (p.Gly633=)
c.1995T>A (p.Gly665=)
c.1923T>A (p.Gly641=)
c.1857T>A (p.Gly619=)
c.1800T>A (p.Gly600=)
15g.27926236C>ACA391361384OCA2c.1970G>T (p.Gly657Val)
c.1898G>T (p.Gly633Val)
c.1994G>T (p.Gly665Val)
c.1922G>T (p.Gly641Val)
c.1856G>T (p.Gly619Val)
c.1799G>T (p.Gly600Val)
ClinVar
15g.27926236C=CA2166365095OCA2c.1970G= (p.Gly657=)
c.1898G= (p.Gly633=)
c.1994G= (p.Gly665=)
c.1922G= (p.Gly641=)
c.1856G= (p.Gly619=)
c.1799G= (p.Gly600=)
15g.27926236C>GCA267867223OCA2c.1970G>C (p.Gly657Ala)
c.1898G>C (p.Gly633Ala)
c.1994G>C (p.Gly665Ala)
c.1922G>C (p.Gly641Ala)
c.1856G>C (p.Gly619Ala)
c.1799G>C (p.Gly600Ala)
dbSNP gnomAD v3 gnomAD v4
15g.27926236C>TCA267867230OCA2c.1970G>A (p.Gly657Asp)
c.1898G>A (p.Gly633Asp)
c.1994G>A (p.Gly665Asp)
c.1922G>A (p.Gly641Asp)
c.1856G>A (p.Gly619Asp)
c.1799G>A (p.Gly600Asp)
dbSNP
15g.27926237C>ACA391361386OCA2c.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)
15g.27926237C=CA2166365096OCA2c.1969G= (p.Gly657=)
c.1897G= (p.Gly633=)
c.1993G= (p.Gly665=)
c.1921G= (p.Gly641=)
c.1855G= (p.Gly619=)
c.1798G= (p.Gly600=)
15g.27926237C>GCA10575784OCA2c.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
15g.27926237C>TCA391361388OCA2c.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)
15g.27926238C>ACA488959325OCA2c.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=)
15g.27926238C=CA2166365097OCA2c.1968G= (p.Leu656=)
c.1896G= (p.Leu632=)
c.1992G= (p.Leu664=)
c.1920G= (p.Leu640=)
c.1854G= (p.Leu618=)
c.1797G= (p.Leu599=)
15g.27926238C>GCA488959326OCA2c.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=)
15g.27926238C>TCA488959327OCA2c.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
15g.27926239A>CCA391361389OCA2c.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)
15g.27926239A>GCA391361390OCA2c.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)
15g.27926239A>TCA391361391OCA2c.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)
15g.27926240G>ACA488959328OCA2c.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
15g.27926240G>CCA391361393OCA2c.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
15g.27926240G>TCA391361395OCA2c.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)
15g.27926241A=CA2166365098OCA2c.1965T= (p.Ile655=)
c.1893T= (p.Ile631=)
c.1989T= (p.Ile663=)
c.1917T= (p.Ile639=)
c.1851T= (p.Ile617=)
c.1794T= (p.Ile598=)
15g.27926241A>CCA391361397OCA2c.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)
15g.27926241A>GCA488959330OCA2c.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
15g.27926241A>TCA488959329OCA2c.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=)
15g.27926242A=CA2166365099OCA2c.1964T= (p.Ile655=)
c.1892T= (p.Ile631=)
c.1988T= (p.Ile663=)
c.1916T= (p.Ile639=)
c.1850T= (p.Ile617=)
c.1793T= (p.Ile598=)
15g.27926242A>CCA391361399OCA2c.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)
15g.27926242A>GCA391361401OCA2c.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
15g.27926242A>TCA7438797OCA2c.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
15g.27926243T>ACA391361404OCA2c.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)
15g.27926243T>CCA391361406OCA2c.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
15g.27926243T>GCA391361408OCA2c.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)
15g.27926243dupCA2695219758OCA2c.1963dup (p.Ile655AsnfsTer12)
c.1891dup (p.Ile631AsnfsTer12)
c.1987dup (p.Ile663AsnfsTer12)
c.1915dup (p.Ile639AsnfsTer12)
c.1849dup (p.Ile617AsnfsTer12)
c.1792dup (p.Ile598AsnfsTer12)
15g.27926244A>CCA488959331OCA2c.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=)
15g.27926244A>GCA488959332OCA2c.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
15g.27926244A>TCA488959333OCA2c.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=)
15g.27926245G>ACA391361409OCA2c.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
15g.27926245G>CCA391361416OCA2c.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
15g.27926245G=CA2166365101OCA2c.1961C= (p.Ala654=)
c.1889C= (p.Ala630=)
c.1985C= (p.Ala662=)
c.1913C= (p.Ala638=)
c.1847C= (p.Ala616=)
c.1790C= (p.Ala597=)
15g.27926245G>TCA391361411OCA2c.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)
15g.27926245_27926246delinsGCCA2166365100OCA2c.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=)
15g.27926246delCA251636OCA2c.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
15g.27926246C>ACA391361420OCA2c.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)
15g.27926246C=CA2166365102OCA2c.1960G= (p.Ala654=)
c.1888G= (p.Ala630=)
c.1984G= (p.Ala662=)
c.1912G= (p.Ala638=)
c.1846G= (p.Ala616=)
c.1789G= (p.Ala597=)
15g.27926246C>GCA391361425OCA2c.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
15g.27926246C>TCA7438798OCA2c.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
15g.27926247A>CCA391361439OCA2c.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
15g.27926247A>GCA488959334OCA2c.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=)
15g.27926247A>TCA488959335OCA2c.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=)
15g.27926248A>CCA391361443OCA2c.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)
15g.27926248A>GCA391361448OCA2c.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)
15g.27926248A>TCA391361458OCA2c.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)
15g.27926249T>ACA391361464OCA2c.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)
15g.27926249T>CCA391361467OCA2c.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)
15g.27926249T>GCA391361469OCA2c.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
15g.27926250C>ACA391361470OCA2c.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
15g.27926250C>GCA391361475OCA2c.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)
15g.27926250C>TCA391361472OCA2c.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)
15g.27926251C>ACA391361478OCA2c.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)
15g.27926251C>GCA391361481OCA2c.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)
15g.27926251C>TCA391361484OCA2c.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)
15g.27926252A=CA2166365103OCA2c.1954T= (p.Trp652=)
c.1882T= (p.Trp628=)
c.1978T= (p.Trp660=)
c.1906T= (p.Trp636=)
c.1840T= (p.Trp614=)
c.1783T= (p.Trp595=)
15g.27926252A>CCA391361486OCA2c.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)
15g.27926252A>GCA391361487OCA2c.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)
15g.27926252A>TCA10605608OCA2c.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
15g.27926253T>ACA488959336OCA2c.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=)
15g.27926253T>CCA488959337OCA2c.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=)
15g.27926253T>GCA488959338OCA2c.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=)
15g.27926254C>ACA391361490OCA2c.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)
15g.27926254C>GCA391361492OCA2c.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)
15g.27926254C>TCA391361495OCA2c.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
15g.27926255C>ACA391361499OCA2c.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
15g.27926255C>GCA391361501OCA2c.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)
15g.27926255C>TCA391361503OCA2c.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)

Number of alleles fetched