Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27926128T>A | CA391360816 | OCA2 | c.2078A>T (p.Glu693Val) c.2006A>T (p.Glu669Val) c.2102A>T (p.Glu701Val) c.2030A>T (p.Glu677Val) c.1964A>T (p.Glu655Val) c.1907A>T (p.Glu636Val) | dbSNP gnomAD v4 COSMIC |
15 | g.27926128T>C | CA391360817 | OCA2 | c.2078A>G (p.Glu693Gly) c.2006A>G (p.Glu669Gly) c.2102A>G (p.Glu701Gly) c.2030A>G (p.Glu677Gly) c.1964A>G (p.Glu655Gly) c.1907A>G (p.Glu636Gly) | |
15 | g.27926128T>G | CA391360818 | OCA2 | c.2078A>C (p.Glu693Ala) c.2006A>C (p.Glu669Ala) c.2102A>C (p.Glu701Ala) c.2030A>C (p.Glu677Ala) c.1964A>C (p.Glu655Ala) c.1907A>C (p.Glu636Ala) | |
15 | g.27926128T= | CA2166365047 | OCA2 | c.2078A= (p.Glu693=) c.2006A= (p.Glu669=) c.2102A= (p.Glu701=) c.2030A= (p.Glu677=) c.1964A= (p.Glu655=) c.1907A= (p.Glu636=) | |
15 | g.27926129C>A | CA391360822 | OCA2 | c.2077G>T (p.Glu693Ter) c.2005G>T (p.Glu669Ter) c.2101G>T (p.Glu701Ter) c.2029G>T (p.Glu677Ter) c.1963G>T (p.Glu655Ter) c.1906G>T (p.Glu636Ter) | |
15 | g.27926129C>G | CA391360824 | OCA2 | c.2077G>C (p.Glu693Gln) c.2005G>C (p.Glu669Gln) c.2101G>C (p.Glu701Gln) c.2029G>C (p.Glu677Gln) c.1963G>C (p.Glu655Gln) c.1906G>C (p.Glu636Gln) | |
15 | g.27926129C>T | CA391360825 | OCA2 | c.2077G>A (p.Glu693Lys) c.2005G>A (p.Glu669Lys) c.2101G>A (p.Glu701Lys) c.2029G>A (p.Glu677Lys) c.1963G>A (p.Glu655Lys) c.1906G>A (p.Glu636Lys) | |
15 | g.27926130C>A | CA391360830 | OCA2 | c.2076G>T (p.Met692Ile) c.2004G>T (p.Met668Ile) c.2100G>T (p.Met700Ile) c.2028G>T (p.Met676Ile) c.1962G>T (p.Met654Ile) c.1905G>T (p.Met635Ile) | |
15 | g.27926130C= | CA2166365048 | OCA2 | c.2076G= (p.Met692=) c.2004G= (p.Met668=) c.2100G= (p.Met700=) c.2028G= (p.Met676=) c.1962G= (p.Met654=) c.1905G= (p.Met635=) | |
15 | g.27926130C>G | CA391360827 | OCA2 | c.2076G>C (p.Met692Ile) c.2004G>C (p.Met668Ile) c.2100G>C (p.Met700Ile) c.2028G>C (p.Met676Ile) c.1962G>C (p.Met654Ile) c.1905G>C (p.Met635Ile) | |
15 | g.27926130C>T | CA391360826 | OCA2 | c.2076G>A (p.Met692Ile) c.2004G>A (p.Met668Ile) c.2100G>A (p.Met700Ile) c.2028G>A (p.Met676Ile) c.1962G>A (p.Met654Ile) c.1905G>A (p.Met635Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.27926131A>C | CA391360835 | OCA2 | c.2075T>G (p.Met692Arg) c.2003T>G (p.Met668Arg) c.2099T>G (p.Met700Arg) c.2027T>G (p.Met676Arg) c.1961T>G (p.Met654Arg) c.1904T>G (p.Met635Arg) | |
15 | g.27926131A>G | CA391360843 | OCA2 | c.2075T>C (p.Met692Thr) c.2003T>C (p.Met668Thr) c.2099T>C (p.Met700Thr) c.2027T>C (p.Met676Thr) c.1961T>C (p.Met654Thr) c.1904T>C (p.Met635Thr) | |
15 | g.27926131A>T | CA391360845 | OCA2 | c.2075T>A (p.Met692Lys) c.2003T>A (p.Met668Lys) c.2099T>A (p.Met700Lys) c.2027T>A (p.Met676Lys) c.1961T>A (p.Met654Lys) c.1904T>A (p.Met635Lys) | |
15 | g.27926132T>A | CA391360849 | OCA2 | c.2074A>T (p.Met692Leu) c.2002A>T (p.Met668Leu) c.2098A>T (p.Met700Leu) c.2026A>T (p.Met676Leu) c.1960A>T (p.Met654Leu) c.1903A>T (p.Met635Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27926132T>C | CA391360851 | OCA2 | c.2074A>G (p.Met692Val) c.2002A>G (p.Met668Val) c.2098A>G (p.Met700Val) c.2026A>G (p.Met676Val) c.1960A>G (p.Met654Val) c.1903A>G (p.Met635Val) | dbSNP |
15 | g.27926132T>G | CA391360852 | OCA2 | c.2074A>C (p.Met692Leu) c.2002A>C (p.Met668Leu) c.2098A>C (p.Met700Leu) c.2026A>C (p.Met676Leu) c.1960A>C (p.Met654Leu) c.1903A>C (p.Met635Leu) | |
15 | g.27926132T= | CA2166365049 | OCA2 | c.2074A= (p.Met692=) c.2002A= (p.Met668=) c.2098A= (p.Met700=) c.2026A= (p.Met676=) c.1960A= (p.Met654=) c.1903A= (p.Met635=) | |
15 | g.27926133C>A | CA488959249 | OCA2 | c.2073G>T (p.Leu691=) c.2001G>T (p.Leu667=) c.2097G>T (p.Leu699=) c.2025G>T (p.Leu675=) c.1959G>T (p.Leu653=) c.1902G>T (p.Leu634=) | |
15 | g.27926133C= | CA2166365050 | OCA2 | c.2073G= (p.Leu691=) c.2001G= (p.Leu667=) c.2097G= (p.Leu699=) c.2025G= (p.Leu675=) c.1959G= (p.Leu653=) c.1902G= (p.Leu634=) | |
15 | g.27926133C>G | CA488959250 | OCA2 | c.2073G>C (p.Leu691=) c.2001G>C (p.Leu667=) c.2097G>C (p.Leu699=) c.2025G>C (p.Leu675=) c.1959G>C (p.Leu653=) c.1902G>C (p.Leu634=) | |
15 | g.27926133C>T | CA7438776 | OCA2 | c.2073G>A (p.Leu691=) c.2001G>A (p.Leu667=) c.2097G>A (p.Leu699=) c.2025G>A (p.Leu675=) c.1959G>A (p.Leu653=) c.1902G>A (p.Leu634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27926134A>C | CA391360856 | OCA2 | c.2072T>G (p.Leu691Arg) c.2000T>G (p.Leu667Arg) c.2096T>G (p.Leu699Arg) c.2024T>G (p.Leu675Arg) c.1958T>G (p.Leu653Arg) c.1901T>G (p.Leu634Arg) | |
15 | g.27926134A>G | CA391360859 | OCA2 | c.2072T>C (p.Leu691Pro) c.2000T>C (p.Leu667Pro) c.2096T>C (p.Leu699Pro) c.2024T>C (p.Leu675Pro) c.1958T>C (p.Leu653Pro) c.1901T>C (p.Leu634Pro) | |
15 | g.27926134A>T | CA391360861 | OCA2 | c.2072T>A (p.Leu691Gln) c.2000T>A (p.Leu667Gln) c.2096T>A (p.Leu699Gln) c.2024T>A (p.Leu675Gln) c.1958T>A (p.Leu653Gln) c.1901T>A (p.Leu634Gln) | |
15 | g.27926135G>A | CA7438777 | OCA2 | c.2071C>T (p.Leu691=) c.1999C>T (p.Leu667=) c.2095C>T (p.Leu699=) c.2023C>T (p.Leu675=) c.1957C>T (p.Leu653=) c.1900C>T (p.Leu634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27926135G>C | CA391360867 | OCA2 | c.2071C>G (p.Leu691Val) c.1999C>G (p.Leu667Val) c.2095C>G (p.Leu699Val) c.2023C>G (p.Leu675Val) c.1957C>G (p.Leu653Val) c.1900C>G (p.Leu634Val) | |
15 | g.27926135G= | CA2166365051 | OCA2 | c.2071C= (p.Leu691=) c.1999C= (p.Leu667=) c.2095C= (p.Leu699=) c.2023C= (p.Leu675=) c.1957C= (p.Leu653=) c.1900C= (p.Leu634=) | |
15 | g.27926135G>T | CA391360869 | OCA2 | c.2071C>A (p.Leu691Met) c.1999C>A (p.Leu667Met) c.2095C>A (p.Leu699Met) c.2023C>A (p.Leu675Met) c.1957C>A (p.Leu653Met) c.1900C>A (p.Leu634Met) | |
15 | g.27926136A>C | CA488959251 | OCA2 | c.2070T>G (p.Val690=) c.1998T>G (p.Val666=) c.2094T>G (p.Val698=) c.2022T>G (p.Val674=) c.1956T>G (p.Val652=) c.1899T>G (p.Val633=) | |
15 | g.27926136A>G | CA488959253 | OCA2 | c.2070T>C (p.Val690=) c.1998T>C (p.Val666=) c.2094T>C (p.Val698=) c.2022T>C (p.Val674=) c.1956T>C (p.Val652=) c.1899T>C (p.Val633=) | |
15 | g.27926136A>T | CA488959252 | OCA2 | c.2070T>A (p.Val690=) c.1998T>A (p.Val666=) c.2094T>A (p.Val698=) c.2022T>A (p.Val674=) c.1956T>A (p.Val652=) c.1899T>A (p.Val633=) | |
15 | g.27926137A= | CA2166365052 | OCA2 | c.2069T= (p.Val690=) c.1997T= (p.Val666=) c.2093T= (p.Val698=) c.2021T= (p.Val674=) c.1955T= (p.Val652=) c.1898T= (p.Val633=) | |
15 | g.27926137A>C | CA391360879 | OCA2 | c.2069T>G (p.Val690Gly) c.1997T>G (p.Val666Gly) c.2093T>G (p.Val698Gly) c.2021T>G (p.Val674Gly) c.1955T>G (p.Val652Gly) c.1898T>G (p.Val633Gly) | |
15 | g.27926137A>G | CA391360876 | OCA2 | c.2069T>C (p.Val690Ala) c.1997T>C (p.Val666Ala) c.2093T>C (p.Val698Ala) c.2021T>C (p.Val674Ala) c.1955T>C (p.Val652Ala) c.1898T>C (p.Val633Ala) | ClinVar dbSNP gnomAD v4 |
15 | g.27926137A>T | CA391360873 | OCA2 | c.2069T>A (p.Val690Asp) c.1997T>A (p.Val666Asp) c.2093T>A (p.Val698Asp) c.2021T>A (p.Val674Asp) c.1955T>A (p.Val652Asp) c.1898T>A (p.Val633Asp) | |
15 | g.27926138C>A | CA391360888 | OCA2 | c.2068G>T (p.Val690Phe) c.1996G>T (p.Val666Phe) c.2092G>T (p.Val698Phe) c.2020G>T (p.Val674Phe) c.1954G>T (p.Val652Phe) c.1897G>T (p.Val633Phe) | dbSNP |
15 | g.27926138C= | CA2166365053 | OCA2 | c.2068G= (p.Val690=) c.1996G= (p.Val666=) c.2092G= (p.Val698=) c.2020G= (p.Val674=) c.1954G= (p.Val652=) c.1897G= (p.Val633=) | |
15 | g.27926138C>G | CA391360892 | OCA2 | c.2068G>C (p.Val690Leu) c.1996G>C (p.Val666Leu) c.2092G>C (p.Val698Leu) c.2020G>C (p.Val674Leu) c.1954G>C (p.Val652Leu) c.1897G>C (p.Val633Leu) | gnomAD v4 |
15 | g.27926138C>T | CA391360894 | OCA2 | c.2068G>A (p.Val690Ile) c.1996G>A (p.Val666Ile) c.2092G>A (p.Val698Ile) c.2020G>A (p.Val674Ile) c.1954G>A (p.Val652Ile) c.1897G>A (p.Val633Ile) | |
15 | g.27926139A>C | CA391360898 | OCA2 | c.2067T>G (p.Phe689Leu) c.1995T>G (p.Phe665Leu) c.2091T>G (p.Phe697Leu) c.2019T>G (p.Phe673Leu) c.1953T>G (p.Phe651Leu) c.1896T>G (p.Phe632Leu) | |
15 | g.27926139A>G | CA488959254 | OCA2 | c.2067T>C (p.Phe689=) c.1995T>C (p.Phe665=) c.2091T>C (p.Phe697=) c.2019T>C (p.Phe673=) c.1953T>C (p.Phe651=) c.1896T>C (p.Phe632=) | gnomAD v4 |
15 | g.27926139A>T | CA391360901 | OCA2 | c.2067T>A (p.Phe689Leu) c.1995T>A (p.Phe665Leu) c.2091T>A (p.Phe697Leu) c.2019T>A (p.Phe673Leu) c.1953T>A (p.Phe651Leu) c.1896T>A (p.Phe632Leu) | |
15 | g.27926140A>C | CA391360904 | OCA2 | c.2066T>G (p.Phe689Cys) c.1994T>G (p.Phe665Cys) c.2090T>G (p.Phe697Cys) c.2018T>G (p.Phe673Cys) c.1952T>G (p.Phe651Cys) c.1895T>G (p.Phe632Cys) | |
15 | g.27926140A>G | CA391360907 | OCA2 | c.2066T>C (p.Phe689Ser) c.1994T>C (p.Phe665Ser) c.2090T>C (p.Phe697Ser) c.2018T>C (p.Phe673Ser) c.1952T>C (p.Phe651Ser) c.1895T>C (p.Phe632Ser) | |
15 | g.27926140A>T | CA391360909 | OCA2 | c.2066T>A (p.Phe689Tyr) c.1994T>A (p.Phe665Tyr) c.2090T>A (p.Phe697Tyr) c.2018T>A (p.Phe673Tyr) c.1952T>A (p.Phe651Tyr) c.1895T>A (p.Phe632Tyr) | |
15 | g.27926141A>C | CA391360912 | OCA2 | c.2065T>G (p.Phe689Val) c.1993T>G (p.Phe665Val) c.2089T>G (p.Phe697Val) c.2017T>G (p.Phe673Val) c.1951T>G (p.Phe651Val) c.1894T>G (p.Phe632Val) | |
15 | g.27926141A>G | CA391360915 | OCA2 | c.2065T>C (p.Phe689Leu) c.1993T>C (p.Phe665Leu) c.2089T>C (p.Phe697Leu) c.2017T>C (p.Phe673Leu) c.1951T>C (p.Phe651Leu) c.1894T>C (p.Phe632Leu) | |
15 | g.27926141A>T | CA391360917 | OCA2 | c.2065T>A (p.Phe689Ile) c.1993T>A (p.Phe665Ile) c.2089T>A (p.Phe697Ile) c.2017T>A (p.Phe673Ile) c.1951T>A (p.Phe651Ile) c.1894T>A (p.Phe632Ile) | |
15 | g.27926142G>A | CA488959255 | OCA2 | c.2064C>T (p.Leu688=) c.1992C>T (p.Leu664=) c.2088C>T (p.Leu696=) c.2016C>T (p.Leu672=) c.1950C>T (p.Leu650=) c.1893C>T (p.Leu631=) | ClinVar |
15 | g.27926142G>C | CA488959256 | OCA2 | c.2064C>G (p.Leu688=) c.1992C>G (p.Leu664=) c.2088C>G (p.Leu696=) c.2016C>G (p.Leu672=) c.1950C>G (p.Leu650=) c.1893C>G (p.Leu631=) | gnomAD v4 |
15 | g.27926142G>T | CA488959257 | OCA2 | c.2064C>A (p.Leu688=) c.1992C>A (p.Leu664=) c.2088C>A (p.Leu696=) c.2016C>A (p.Leu672=) c.1950C>A (p.Leu650=) c.1893C>A (p.Leu631=) | |
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?) | 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 |
15 | g.27926161A>T | CA391361039 | OCA2 | c.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) | |
15 | g.27926162G>A | CA391361041 | OCA2 | c.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) | |
15 | g.27926162G>C | CA391361042 | OCA2 | c.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 |
15 | g.27926162G>T | CA391361044 | OCA2 | c.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) | |
15 | g.27926164del | CA488959270 | OCA2 | c.2044del (p.Leu682PhefsTer10) c.1972del (p.Leu658PhefsTer10) c.2068del (p.Leu690PhefsTer10) c.1996del (p.Leu666PhefsTer10) c.1930del (p.Leu644PhefsTer10) c.1873del (p.Leu625PhefsTer10) | |
15 | g.27926163G>A | CA488959271 | OCA2 | c.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 |
15 | g.27926163G>C | CA7438789 | OCA2 | c.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 |
15 | g.27926163G= | CA2166365067 | OCA2 | c.2043C= (p.Thr681=) c.1971C= (p.Thr657=) c.2067C= (p.Thr689=) c.1995C= (p.Thr665=) c.1929C= (p.Thr643=) c.1872C= (p.Thr624=) | |
15 | g.27926163G>T | CA7438790 | OCA2 | c.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 |
15 | g.27926164G>A | CA391361050 | OCA2 | c.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) | |
15 | g.27926164G>C | CA391361051 | OCA2 | c.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 |
15 | g.27926164G= | CA2166365068 | OCA2 | c.2042C= (p.Thr681=) c.1970C= (p.Thr657=) c.2066C= (p.Thr689=) c.1994C= (p.Thr665=) c.1928C= (p.Thr643=) c.1871C= (p.Thr624=) | |
15 | g.27926164G>T | CA391361053 | OCA2 | c.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) | |
15 | g.27926165T>A | CA391361056 | OCA2 | c.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) | |
15 | g.27926165T>C | CA391361057 | OCA2 | c.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) | |
15 | g.27926165T>G | CA391361060 | OCA2 | c.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) | |
15 | g.27926166del | CA2730411292 | OCA2 | c.2041del (p.Thr681ProfsTer11) c.1969del (p.Thr657ProfsTer11) c.2065del (p.Thr689ProfsTer11) c.1993del (p.Thr665ProfsTer11) c.1927del (p.Thr643ProfsTer11) c.1870del (p.Thr624ProfsTer11) | dbSNP |
15 | g.27926166T>A | CA488959272 | OCA2 | c.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=) | |
15 | g.27926166T>C | CA488959274 | OCA2 | c.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=) | |
15 | g.27926166T>G | CA488959273 | OCA2 | c.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=) | |
15 | g.27926167G>A | CA391361062 | OCA2 | c.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 |
15 | g.27926167G>C | CA391361064 | OCA2 | c.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) | |
15 | g.27926167G>T | CA391361066 | OCA2 | c.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 |
15 | g.27926167_27926174delinsCTA | CA2695197228 | OCA2 | c.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 |
15 | g.27926168C>A | CA391361068 | OCA2 | c.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) | |
15 | g.27926168C>G | CA391361070 | OCA2 | c.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) | |
15 | g.27926168C>T | CA391361071 | OCA2 | c.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) | |
15 | g.27926170del | CA2627379631 | OCA2 | c.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 |
15 | g.27926169C>A | CA391361073 | OCA2 | c.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 |
15 | g.27926169C= | CA2166365069 | OCA2 | c.2037G= (p.Trp679=) c.1965G= (p.Trp655=) c.2061G= (p.Trp687=) c.1989G= (p.Trp663=) c.1923G= (p.Trp641=) c.1866G= (p.Trp622=) | |
15 | g.27926169C>G | CA251639 | OCA2 | c.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 |
15 | g.27926169C>T | CA391361075 | OCA2 | c.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) | |
15 | g.27926170C>A | CA391361077 | OCA2 | c.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 |
15 | g.27926170C= | CA2166365070 | OCA2 | c.2036G= (p.Trp679=) c.1964G= (p.Trp655=) c.2060G= (p.Trp687=) c.1988G= (p.Trp663=) c.1922G= (p.Trp641=) c.1865G= (p.Trp622=) | |
15 | g.27926170C>G | CA391361079 | OCA2 | c.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) | |
15 | g.27926170C>T | CA391361081 | OCA2 | c.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 |
15 | g.27926171A= | CA2166365071 | OCA2 | c.2035T= (p.Trp679=) c.1963T= (p.Trp655=) c.2059T= (p.Trp687=) c.1987T= (p.Trp663=) c.1921T= (p.Trp641=) c.1864T= (p.Trp622=) | |
15 | g.27926171A>C | CA391361083 | OCA2 | c.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) | |
15 | g.27926171A>G | CA7438791 | OCA2 | c.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 |
15 | g.27926171A>T | CA391361086 | OCA2 | c.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) | |
15 | g.27926172T>A | CA391361087 | OCA2 | c.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) | |
15 | g.27926172T>C | CA488959275 | OCA2 | c.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=) | |
15 | g.27926172T>G | CA391361089 | OCA2 | c.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) | |
15 | g.27926173T>A | CA391361092 | OCA2 | c.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) | |
15 | g.27926173T>C | CA391361097 | OCA2 | c.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) | |
15 | g.27926173T>G | CA391361098 | OCA2 | c.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) | |
15 | g.27926174C>A | CA391361105 | OCA2 | c.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) | |
15 | g.27926174C= | CA2166365072 | OCA2 | c.2032G= (p.Glu678=) c.1960G= (p.Glu654=) c.2056G= (p.Glu686=) c.1984G= (p.Glu662=) c.1918G= (p.Glu640=) c.1861G= (p.Glu621=) | |
15 | g.27926174C>G | CA391361103 | OCA2 | c.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) | |
15 | g.27926174C>T | CA391361101 | OCA2 | c.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 |
15 | g.27926175C>A | CA488959276 | OCA2 | c.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=) | |
15 | g.27926175C= | CA2166365073 | OCA2 | c.2031G= (p.Val677=) c.1959G= (p.Val653=) c.2055G= (p.Val685=) c.1983G= (p.Val661=) c.1917G= (p.Val639=) c.1860G= (p.Val620=) | |
15 | g.27926175C>G | CA488959277 | OCA2 | c.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=) | |
15 | g.27926175C>T | CA488959278 | OCA2 | c.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 |
15 | g.27926176A>C | CA391361108 | OCA2 | c.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) | |
15 | g.27926176A>G | CA391361109 | OCA2 | c.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 |
15 | g.27926176A>T | CA391361110 | OCA2 | c.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) | |
15 | g.27926177C>A | CA391361113 | OCA2 | c.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) | |
15 | g.27926177C= | CA2166365074 | OCA2 | c.2029G= (p.Val677=) c.1957G= (p.Val653=) c.2053G= (p.Val685=) c.1981G= (p.Val661=) c.1915G= (p.Val639=) c.1858G= (p.Val620=) | |
15 | g.27926177C>G | CA391361115 | OCA2 | c.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) | |
15 | g.27926177C>T | CA391361117 | OCA2 | c.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 |
15 | g.27926178T>A | CA391361120 | OCA2 | c.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) | |
15 | g.27926178T>C | CA488959279 | OCA2 | c.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=) | |
15 | g.27926178T>G | CA391361121 | OCA2 | c.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) | |
15 | g.27926178_27926179delinsTC | CA2166365075 | OCA2 | c.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=) | |
15 | g.27926179del | CA616704970 | OCA2 | c.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 |
15 | g.27926179C>A | CA391361124 | OCA2 | c.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 |
15 | g.27926179C>G | CA391361125 | OCA2 | c.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) | |
15 | g.27926179C>T | CA391361126 | OCA2 | c.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) | |
15 | g.27926180T>A | CA391361128 | OCA2 | c.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) | |
15 | g.27926180T>C | CA391361130 | OCA2 | c.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 |
15 | g.27926180T>G | CA488959280 | OCA2 | c.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=) | |
15 | g.27926181G>A | CA488959281 | OCA2 | c.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=) | |
15 | g.27926181G>C | CA391361133 | OCA2 | c.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) | |
15 | g.27926181G>T | CA391361131 | OCA2 | c.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) | |
15 | g.27926182T>A | CA391361135 | OCA2 | c.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) | |
15 | g.27926182T>C | CA391361138 | OCA2 | c.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) | |
15 | g.27926182T>G | CA391361136 | OCA2 | c.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) | |
15 | g.27926183G>A | CA391361140 | OCA2 | c.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 |
15 | g.27926183G>C | CA391361143 | OCA2 | c.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) | |
15 | g.27926183G>T | CA391361142 | OCA2 | c.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) | |
15 | g.27926184T>A | CA488959282 | OCA2 | c.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=) | |
15 | g.27926184T>C | CA7438792 | OCA2 | c.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 |
15 | g.27926184T>G | CA488959283 | OCA2 | c.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=) | |
15 | g.27926184T= | CA2166365076 | OCA2 | c.2022A= (p.Leu674=) c.1950A= (p.Leu650=) c.2046A= (p.Leu682=) c.1974A= (p.Leu658=) c.1908A= (p.Leu636=) c.1851A= (p.Leu617=) | |
15 | g.27926185A>C | CA391361152 | OCA2 | c.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) | |
15 | g.27926185A>G | CA391361148 | OCA2 | c.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) | |
15 | g.27926185A>T | CA391361150 | OCA2 | c.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 |
15 | g.27926185dup | CA2166365077 | OCA2 | c.2021dup (p.His675ThrfsTer?) c.1949dup (p.His651ThrfsTer?) c.2045dup (p.His683ThrfsTer?) c.1973dup (p.His659ThrfsTer?) c.1907dup (p.His637ThrfsTer?) c.1850dup (p.His618ThrfsTer?) | dbSNP |
15 | g.27926186G>A | CA488959284 | OCA2 | c.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=) | |
15 | g.27926186G>C | CA241133 | OCA2 | c.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 |
15 | g.27926186G= | CA2166365078 | OCA2 | c.2020C= (p.Leu674=) c.1948C= (p.Leu650=) c.2044C= (p.Leu682=) c.1972C= (p.Leu658=) c.1906C= (p.Leu636=) c.1849C= (p.Leu617=) | |
15 | g.27926186G>T | CA391361154 | OCA2 | c.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 |
15 | g.27926187A>C | CA391361157 | OCA2 | c.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) | |
15 | g.27926187A>G | CA488959285 | OCA2 | c.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=) | |
15 | g.27926187A>T | CA488959286 | OCA2 | c.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=) | |
15 | g.27926188A>C | CA391361159 | OCA2 | c.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) | |
15 | g.27926188A>G | CA391361161 | OCA2 | c.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) | |
15 | g.27926188A>T | CA391361163 | OCA2 | c.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 |
15 | g.27926189T>A | CA391361165 | OCA2 | c.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) | |
15 | g.27926189T>C | CA391361167 | OCA2 | c.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 |
15 | g.27926189T>G | CA391361169 | OCA2 | c.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) | |
15 | g.27926189T= | CA2166365079 | OCA2 | c.2017A= (p.Ile673=) c.1945A= (p.Ile649=) c.2041A= (p.Ile681=) c.1969A= (p.Ile657=) c.1903A= (p.Ile635=) c.1846A= (p.Ile616=) | |
15 | g.27926190T>A | CA488959287 | OCA2 | c.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=) | |
15 | g.27926190T>C | CA391361171 | OCA2 | c.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 |
15 | g.27926190T>G | CA488959288 | OCA2 | c.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=) | |
15 | g.27926190T= | CA2166365080 | OCA2 | c.2016A= (p.Ile672=) c.1944A= (p.Ile648=) c.2040A= (p.Ile680=) c.1968A= (p.Ile656=) c.1902A= (p.Ile634=) c.1845A= (p.Ile615=) | |
15 | g.27926190_27926192delinsA | CA2695197229 | OCA2 | c.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 |
15 | g.27926191A>C | CA391361181 | OCA2 | c.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) | |
15 | g.27926191A>G | CA391361177 | OCA2 | c.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) | |
15 | g.27926191A>T | CA391361179 | OCA2 | c.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) | |
15 | g.27926192_27926196del | CA2739278386 | OCA2 | c.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 |
15 | g.27926192T>A | CA391361184 | OCA2 | c.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) | |
15 | g.27926192T>C | CA391361186 | OCA2 | c.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 |
15 | g.27926192T>G | CA391361188 | OCA2 | c.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) | |
15 | g.27926192T= | CA2166365081 | OCA2 | c.2014A= (p.Ile672=) c.1942A= (p.Ile648=) c.2038A= (p.Ile680=) c.1966A= (p.Ile656=) c.1900A= (p.Ile634=) c.1843A= (p.Ile615=) | |
15 | g.27926193C>A | CA391361190 | OCA2 | c.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) | |
15 | g.27926193C>G | CA391361192 | OCA2 | c.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) | |
15 | g.27926193C>T | CA488959290 | OCA2 | c.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 |
15 | g.27926194T>A | CA277382 | OCA2 | c.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 |
15 | g.27926194T>C | CA391361195 | OCA2 | c.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 |
15 | g.27926194T>G | CA391361198 | OCA2 | c.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 |
15 | g.27926194T= | CA2166365082 | OCA2 | c.2012A= (p.Glu671=) c.1940A= (p.Glu647=) c.2036A= (p.Glu679=) c.1964A= (p.Glu655=) c.1898A= (p.Glu633=) c.1841A= (p.Glu614=) | |
15 | g.27926195C>A | CA391361200 | OCA2 | c.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) | |
15 | g.27926195C>G | CA391361201 | OCA2 | c.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) | |
15 | g.27926195C>T | CA391361203 | OCA2 | c.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 |
15 | g.27926196A= | CA2166365083 | OCA2 | c.2010T= (p.Phe670=) c.1938T= (p.Phe646=) c.2034T= (p.Phe678=) c.1962T= (p.Phe654=) c.1896T= (p.Phe632=) c.1839T= (p.Phe613=) | |
15 | g.27926196A>C | CA391361211 | OCA2 | c.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) | |
15 | g.27926196A>G | CA7438793 | OCA2 | c.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 |
15 | g.27926196A>T | CA391361207 | OCA2 | c.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) | |
15 | g.27926197A>C | CA391361213 | OCA2 | c.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) | |
15 | g.27926197A>G | CA391361215 | OCA2 | c.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) | |
15 | g.27926197A>T | CA391361217 | OCA2 | c.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) | |
15 | g.27926198A>C | CA391361219 | OCA2 | c.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) | |
15 | g.27926198A>G | CA391361220 | OCA2 | c.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) | |
15 | g.27926198A>T | CA391361221 | OCA2 | c.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) | |
15 | g.27926199A>C | CA391361222 | OCA2 | c.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) | |
15 | g.27926199A>G | CA488959291 | OCA2 | c.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 |
15 | g.27926199A>T | CA391361225 | OCA2 | c.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) | |
15 | g.27926200T>A | CA391361230 | OCA2 | c.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) | |
15 | g.27926200T>C | CA391361231 | OCA2 | c.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) | |
15 | g.27926200T>G | CA391361232 | OCA2 | c.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) | |
15 | g.27926201C>A | CA7438794 | OCA2 | c.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 |
15 | g.27926201C= | CA2166365084 | OCA2 | c.2005G= (p.Asp669=) c.1933G= (p.Asp645=) c.2029G= (p.Asp677=) c.1957G= (p.Asp653=) c.1891G= (p.Asp631=) c.1834G= (p.Asp612=) | |
15 | g.27926201C>G | CA391361239 | OCA2 | c.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) | |
15 | g.27926201C>T | CA391361234 | OCA2 | c.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) | |
15 | g.27926202A>C | CA391361242 | OCA2 | c.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) | |
15 | g.27926202A>G | CA488959293 | OCA2 | c.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 |
15 | g.27926202A>T | CA391361243 | OCA2 | c.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) | |
15 | g.27926203T>A | CA391361244 | OCA2 | c.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) | |
15 | g.27926203T>C | CA391361246 | OCA2 | c.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 |
15 | g.27926203T>G | CA391361248 | OCA2 | c.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) | |
15 | g.27926204G>A | CA391361250 | OCA2 | c.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) | |
15 | g.27926204G>C | CA391361252 | OCA2 | c.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) | |
15 | g.27926204G>T | CA391361254 | OCA2 | c.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) | |
15 | g.27926205A>C | CA391361257 | OCA2 | c.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) | |
15 | g.27926205A>G | CA488959295 | OCA2 | c.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=) | |
15 | g.27926205A>T | CA488959296 | OCA2 | c.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=) | |
15 | g.27926206A>C | CA391361259 | OCA2 | c.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 |
15 | g.27926206A>G | CA391361260 | OCA2 | c.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 |
15 | g.27926206A>T | CA391361262 | OCA2 | c.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) | |
15 | g.27926207del | CA2627379634 | OCA2 | c.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 |
15 | g.27926207T>A | CA7438795 | OCA2 | c.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 |
15 | g.27926207T>C | CA391361267 | OCA2 | c.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 |
15 | g.27926207T>G | CA391361265 | OCA2 | c.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) | |
15 | g.27926207T= | CA2166365085 | OCA2 | c.1999A= (p.Ile667=) c.1927A= (p.Ile643=) c.2023A= (p.Ile675=) c.1951A= (p.Ile651=) c.1885A= (p.Ile629=) c.1828A= (p.Ile610=) | |
15 | g.27926208A= | CA2166365086 | OCA2 | c.1998T= (p.Asp666=) c.1926T= (p.Asp642=) c.2022T= (p.Asp674=) c.1950T= (p.Asp650=) c.1884T= (p.Asp628=) c.1827T= (p.Asp609=) | |
15 | g.27926208A>C | CA391361270 | OCA2 | c.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 |
15 | g.27926208A>G | CA488959298 | OCA2 | c.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=) | |
15 | g.27926208A>T | CA391361271 | OCA2 | c.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) | |
15 | g.27926209T>A | CA391361272 | OCA2 | c.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) | |
15 | g.27926209T>C | CA391361274 | OCA2 | c.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) | |
15 | g.27926209T>G | CA391361276 | OCA2 | c.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) | |
15 | g.27926210C>A | CA391361277 | OCA2 | c.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) | |
15 | g.27926210C>G | CA391361278 | OCA2 | c.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) | |
15 | g.27926210C>T | CA391361279 | OCA2 | c.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) | |
15 | g.27926211A= | CA2166365087 | OCA2 | c.1995T= (p.Ala665=) c.1923T= (p.Ala641=) c.2019T= (p.Ala673=) c.1947T= (p.Ala649=) c.1881T= (p.Ala627=) c.1824T= (p.Ala608=) | |
15 | g.27926211A>C | CA488959299 | OCA2 | c.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=) | |
15 | g.27926211A>G | CA488959300 | OCA2 | c.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=) | |
15 | g.27926211A>T | CA488959301 | OCA2 | c.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 |
15 | g.27926211_27926212del | CA2695219757 | OCA2 | c.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) | |
15 | g.27926212G>A | CA391361281 | OCA2 | c.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) | |
15 | g.27926212G>C | CA391361282 | OCA2 | c.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) | |
15 | g.27926212G>T | CA391361284 | OCA2 | c.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) | |
15 | g.27926213C>A | CA391361285 | OCA2 | c.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 |
15 | g.27926213C>G | CA391361286 | OCA2 | c.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) | |
15 | g.27926213C>T | CA391361287 | OCA2 | c.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) | |
15 | g.27926214T>A | CA391361292 | OCA2 | c.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) | |
15 | g.27926214T>C | CA488959305 | OCA2 | c.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=) | |
15 | g.27926214T>G | CA391361289 | OCA2 | c.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 |
15 | g.27926214T= | CA2166365088 | OCA2 | c.1992A= (p.Leu664=) c.1920A= (p.Leu640=) c.2016A= (p.Leu672=) c.1944A= (p.Leu648=) c.1878A= (p.Leu626=) c.1821A= (p.Leu607=) | |
15 | g.27926215A>C | CA391361294 | OCA2 | c.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) | |
15 | g.27926215A>G | CA391361296 | OCA2 | c.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) | |
15 | g.27926215A>T | CA391361298 | OCA2 | c.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) | |
15 | g.27926216A>C | CA391361300 | OCA2 | c.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) | |
15 | g.27926216A>G | CA488959307 | OCA2 | c.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=) | |
15 | g.27926216A>T | CA391361303 | OCA2 | c.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) | |
15 | g.27926217A>C | CA391361305 | OCA2 | c.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) | |
15 | g.27926217A>G | CA488959308 | OCA2 | c.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=) | |
15 | g.27926217A>T | CA488959309 | OCA2 | c.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=) | |
15 | g.27926218A>C | CA391361307 | OCA2 | c.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) | |
15 | g.27926218A>G | CA391361308 | OCA2 | c.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) | |
15 | g.27926218A>T | CA391361310 | OCA2 | c.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) | |
15 | g.27926219T>A | CA391361313 | OCA2 | c.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) | |
15 | g.27926219T>C | CA391361314 | OCA2 | c.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 |
15 | g.27926219T>G | CA391361316 | OCA2 | c.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) | |
15 | g.27926220T>A | CA488959311 | OCA2 | c.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=) | |
15 | g.27926220T>C | CA488959312 | OCA2 | c.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=) | |
15 | g.27926220T>G | CA488959313 | OCA2 | c.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=) | |
15 | g.27926221A>C | CA391361319 | OCA2 | c.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) | |
15 | g.27926221A>G | CA391361320 | OCA2 | c.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) | |
15 | g.27926221A>T | CA391361318 | OCA2 | c.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 |
15 | g.27926222G>A | CA488959314 | OCA2 | c.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=) | |
15 | g.27926222G>C | CA391361322 | OCA2 | c.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) | |
15 | g.27926222G>T | CA391361323 | OCA2 | c.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) | |
15 | g.27926223C>A | CA391361326 | OCA2 | c.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 |
15 | g.27926223C>G | CA391361328 | OCA2 | c.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) | |
15 | g.27926223C>T | CA488959315 | OCA2 | c.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=) | |
15 | g.27926224A>C | CA391361330 | OCA2 | c.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) | |
15 | g.27926224A>G | CA391361331 | OCA2 | c.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) | |
15 | g.27926224A>T | CA391361332 | OCA2 | c.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) | |
15 | g.27926225A>C | CA391361333 | OCA2 | c.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) | |
15 | g.27926225A>G | CA488959316 | OCA2 | c.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 |
15 | g.27926225A>T | CA391361334 | OCA2 | c.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) | |
15 | g.27926226C>A | CA391361335 | OCA2 | c.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 |
15 | g.27926226C= | CA2166365089 | OCA2 | c.1980G= (p.Trp660=) c.1908G= (p.Trp636=) c.2004G= (p.Trp668=) c.1932G= (p.Trp644=) c.1866G= (p.Trp622=) c.1809G= (p.Trp603=) | |
15 | g.27926226C>G | CA391361336 | OCA2 | c.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) | |
15 | g.27926226C>T | CA391361338 | OCA2 | c.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 |
15 | g.27926227C>A | CA391361342 | OCA2 | c.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) | |
15 | g.27926227C= | CA2166365090 | OCA2 | c.1979G= (p.Trp660=) c.1907G= (p.Trp636=) c.2003G= (p.Trp668=) c.1931G= (p.Trp644=) c.1865G= (p.Trp622=) c.1808G= (p.Trp603=) | |
15 | g.27926227C>G | CA391361344 | OCA2 | c.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 |
15 | g.27926227C>T | CA391361340 | OCA2 | c.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 |
15 | g.27926228del | CA2740097237 | OCA2 | c.1978del (p.Trp660GlyfsTer3) c.1906del (p.Trp636GlyfsTer3) c.2002del (p.Trp668GlyfsTer3) c.1930del (p.Trp644GlyfsTer3) c.1864del (p.Trp622GlyfsTer3) c.1807del (p.Trp603GlyfsTer3) | ClinVar |
15 | g.27926228A>C | CA391361346 | OCA2 | c.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) | |
15 | g.27926228A>G | CA391361351 | OCA2 | c.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) | |
15 | g.27926228A>T | CA391361353 | OCA2 | c.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) |