| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 15 | g.27926229G>A | CA488959317 | OCA2 | c.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=) | |
| 15 | g.27926229G>C | CA391361354 | OCA2 | c.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) | |
| 15 | g.27926229G>T | CA488959318 | OCA2 | c.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=) | |
| 15 | g.27926230A= | CA2166365091 | OCA2 | c.1976T= (p.Ile659=) c.1904T= (p.Ile635=) c.2000T= (p.Ile667=) c.1928T= (p.Ile643=) c.1862T= (p.Ile621=) c.1805T= (p.Ile602=) | |
| 15 | g.27926230A>C | CA391361366 | OCA2 | c.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) | |
| 15 | g.27926230A>G | CA391361364 | OCA2 | c.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 |
| 15 | g.27926230A>T | CA391361362 | OCA2 | c.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) | |
| 15 | g.27926231T>A | CA391361368 | OCA2 | c.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) | |
| 15 | g.27926231T>C | CA391361370 | OCA2 | c.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 |
| 15 | g.27926231T>G | CA391361372 | OCA2 | c.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) | |
| 15 | g.27926232G>A | CA488959319 | OCA2 | c.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=) | |
| 15 | g.27926232G>C | CA488959321 | OCA2 | c.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=) | |
| 15 | g.27926232G>T | CA488959320 | OCA2 | c.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=) | |
| 15 | g.27926233G>A | CA267867207 | OCA2 | c.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 |
| 15 | g.27926233G>C | CA7438796 | OCA2 | c.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 |
| 15 | g.27926233G= | CA2166365092 | OCA2 | c.1973C= (p.Ala658=) c.1901C= (p.Ala634=) c.1997C= (p.Ala666=) c.1925C= (p.Ala642=) c.1859C= (p.Ala620=) c.1802C= (p.Ala601=) | |
| 15 | g.27926233G>T | CA391361377 | OCA2 | c.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) | |
| 15 | g.27926234C>A | CA391361382 | OCA2 | c.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) | |
| 15 | g.27926234C= | CA2166365093 | OCA2 | c.1972G= (p.Ala658=) c.1900G= (p.Ala634=) c.1996G= (p.Ala666=) c.1924G= (p.Ala642=) c.1858G= (p.Ala620=) c.1801G= (p.Ala601=) | |
| 15 | g.27926234C>G | CA391361380 | OCA2 | c.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) | |
| 15 | g.27926234C>T | CA391361379 | OCA2 | c.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 |
| 15 | g.27926235A= | CA2166365094 | OCA2 | c.1971T= (p.Gly657=) c.1899T= (p.Gly633=) c.1995T= (p.Gly665=) c.1923T= (p.Gly641=) c.1857T= (p.Gly619=) c.1800T= (p.Gly600=) | |
| 15 | g.27926235A>C | CA488959322 | OCA2 | c.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=) | |
| 15 | g.27926235A>G | CA488959324 | OCA2 | c.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 |
| 15 | g.27926235A>T | CA488959323 | OCA2 | c.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=) | |
| 15 | g.27926236C>A | CA391361384 | OCA2 | c.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 |
| 15 | g.27926236C= | CA2166365095 | OCA2 | c.1970G= (p.Gly657=) c.1898G= (p.Gly633=) c.1994G= (p.Gly665=) c.1922G= (p.Gly641=) c.1856G= (p.Gly619=) c.1799G= (p.Gly600=) | |
| 15 | g.27926236C>G | CA267867223 | OCA2 | c.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 |
| 15 | g.27926236C>T | CA267867230 | OCA2 | c.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 |
| 15 | g.27926237C>A | CA391361386 | OCA2 | c.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) | |
| 15 | g.27926237C= | CA2166365096 | OCA2 | c.1969G= (p.Gly657=) c.1897G= (p.Gly633=) c.1993G= (p.Gly665=) c.1921G= (p.Gly641=) c.1855G= (p.Gly619=) c.1798G= (p.Gly600=) | |
| 15 | g.27926237C>G | CA10575784 | OCA2 | c.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 |
| 15 | g.27926237C>T | CA391361388 | OCA2 | c.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) | |
| 15 | g.27926238C>A | CA488959325 | OCA2 | c.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=) | |
| 15 | g.27926238C= | CA2166365097 | OCA2 | c.1968G= (p.Leu656=) c.1896G= (p.Leu632=) c.1992G= (p.Leu664=) c.1920G= (p.Leu640=) c.1854G= (p.Leu618=) c.1797G= (p.Leu599=) | |
| 15 | g.27926238C>G | CA488959326 | OCA2 | c.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=) | |
| 15 | g.27926238C>T | CA488959327 | OCA2 | c.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 |
| 15 | g.27926239A>C | CA391361389 | OCA2 | c.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) | |
| 15 | g.27926239A>G | CA391361390 | OCA2 | c.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) | |
| 15 | g.27926239A>T | CA391361391 | OCA2 | c.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) | |
| 15 | g.27926240G>A | CA488959328 | OCA2 | c.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 |
| 15 | g.27926240G>C | CA391361393 | OCA2 | c.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 |
| 15 | g.27926240G>T | CA391361395 | OCA2 | c.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) | |
| 15 | g.27926241A= | CA2166365098 | OCA2 | c.1965T= (p.Ile655=) c.1893T= (p.Ile631=) c.1989T= (p.Ile663=) c.1917T= (p.Ile639=) c.1851T= (p.Ile617=) c.1794T= (p.Ile598=) | |
| 15 | g.27926241A>C | CA391361397 | OCA2 | c.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) | |
| 15 | g.27926241A>G | CA488959330 | OCA2 | c.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 |
| 15 | g.27926241A>T | CA488959329 | OCA2 | c.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=) | |
| 15 | g.27926242A= | CA2166365099 | OCA2 | c.1964T= (p.Ile655=) c.1892T= (p.Ile631=) c.1988T= (p.Ile663=) c.1916T= (p.Ile639=) c.1850T= (p.Ile617=) c.1793T= (p.Ile598=) | |
| 15 | g.27926242A>C | CA391361399 | OCA2 | c.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) | |
| 15 | g.27926242A>G | CA391361401 | OCA2 | c.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 |
| 15 | g.27926242A>T | CA7438797 | OCA2 | c.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 |
| 15 | g.27926243T>A | CA391361404 | OCA2 | c.1963A>T (p.Ile655Phe) c.1891A>T (p.Ile631Phe) c.1987A>T (p.Ile663Phe) c.1915A>T (p.Ile639Phe) c.1849A>T (p.Ile617Phe) c.1792A>T (p.Ile598Phe) | |
| 15 | g.27926243T>C | CA391361406 | OCA2 | c.1963A>G (p.Ile655Val) c.1891A>G (p.Ile631Val) c.1987A>G (p.Ile663Val) c.1915A>G (p.Ile639Val) c.1849A>G (p.Ile617Val) c.1792A>G (p.Ile598Val) | gnomAD v4 |
| 15 | g.27926243T>G | CA391361408 | OCA2 | c.1963A>C (p.Ile655Leu) c.1891A>C (p.Ile631Leu) c.1987A>C (p.Ile663Leu) c.1915A>C (p.Ile639Leu) c.1849A>C (p.Ile617Leu) c.1792A>C (p.Ile598Leu) | |
| 15 | g.27926243dup | CA2695219758 | OCA2 | c.1963dup (p.Ile655AsnfsTer12) c.1891dup (p.Ile631AsnfsTer12) c.1987dup (p.Ile663AsnfsTer12) c.1915dup (p.Ile639AsnfsTer12) c.1849dup (p.Ile617AsnfsTer12) c.1792dup (p.Ile598AsnfsTer12) | |
| 15 | g.27926244A>C | CA488959331 | OCA2 | c.1962T>G (p.Ala654=) c.1890T>G (p.Ala630=) c.1986T>G (p.Ala662=) c.1914T>G (p.Ala638=) c.1848T>G (p.Ala616=) c.1791T>G (p.Ala597=) | |
| 15 | g.27926244A>G | CA488959332 | OCA2 | c.1962T>C (p.Ala654=) c.1890T>C (p.Ala630=) c.1986T>C (p.Ala662=) c.1914T>C (p.Ala638=) c.1848T>C (p.Ala616=) c.1791T>C (p.Ala597=) | gnomAD v4 |
| 15 | g.27926244A>T | CA488959333 | OCA2 | c.1962T>A (p.Ala654=) c.1890T>A (p.Ala630=) c.1986T>A (p.Ala662=) c.1914T>A (p.Ala638=) c.1848T>A (p.Ala616=) c.1791T>A (p.Ala597=) | |
| 15 | g.27926245G>A | CA391361409 | OCA2 | c.1961C>T (p.Ala654Val) c.1889C>T (p.Ala630Val) c.1985C>T (p.Ala662Val) c.1913C>T (p.Ala638Val) c.1847C>T (p.Ala616Val) c.1790C>T (p.Ala597Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926245G>C | CA391361416 | OCA2 | c.1961C>G (p.Ala654Gly) c.1889C>G (p.Ala630Gly) c.1985C>G (p.Ala662Gly) c.1913C>G (p.Ala638Gly) c.1847C>G (p.Ala616Gly) c.1790C>G (p.Ala597Gly) | gnomAD v4 |
| 15 | g.27926245G= | CA2166365101 | OCA2 | c.1961C= (p.Ala654=) c.1889C= (p.Ala630=) c.1985C= (p.Ala662=) c.1913C= (p.Ala638=) c.1847C= (p.Ala616=) c.1790C= (p.Ala597=) | |
| 15 | g.27926245G>T | CA391361411 | OCA2 | c.1961C>A (p.Ala654Asp) c.1889C>A (p.Ala630Asp) c.1985C>A (p.Ala662Asp) c.1913C>A (p.Ala638Asp) c.1847C>A (p.Ala616Asp) c.1790C>A (p.Ala597Asp) | |
| 15 | g.27926245_27926246delinsGC | CA2166365100 | OCA2 | c.1960_1961delinsGC (p.Ala654=) c.1888_1889delinsGC (p.Ala630=) c.1984_1985delinsGC (p.Ala662=) c.1912_1913delinsGC (p.Ala638=) c.1846_1847delinsGC (p.Ala616=) c.1789_1790delinsGC (p.Ala597=) | |
| 15 | g.27926246del | CA251636 | OCA2 | c.1960del (p.Ala654LeufsTer9) c.1888del (p.Ala630LeufsTer9) c.1984del (p.Ala662LeufsTer9) c.1912del (p.Ala638LeufsTer9) c.1846del (p.Ala616LeufsTer9) c.1789del (p.Ala597LeufsTer9) | ClinVar dbSNP |
| 15 | g.27926246C>A | CA391361420 | OCA2 | c.1960G>T (p.Ala654Ser) c.1888G>T (p.Ala630Ser) c.1984G>T (p.Ala662Ser) c.1912G>T (p.Ala638Ser) c.1846G>T (p.Ala616Ser) c.1789G>T (p.Ala597Ser) | |
| 15 | g.27926246C= | CA2166365102 | OCA2 | c.1960G= (p.Ala654=) c.1888G= (p.Ala630=) c.1984G= (p.Ala662=) c.1912G= (p.Ala638=) c.1846G= (p.Ala616=) c.1789G= (p.Ala597=) | |
| 15 | g.27926246C>G | CA391361425 | OCA2 | c.1960G>C (p.Ala654Pro) c.1888G>C (p.Ala630Pro) c.1984G>C (p.Ala662Pro) c.1912G>C (p.Ala638Pro) c.1846G>C (p.Ala616Pro) c.1789G>C (p.Ala597Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.27926246C>T | CA7438798 | OCA2 | c.1960G>A (p.Ala654Thr) c.1888G>A (p.Ala630Thr) c.1984G>A (p.Ala662Thr) c.1912G>A (p.Ala638Thr) c.1846G>A (p.Ala616Thr) c.1789G>A (p.Ala597Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926247A>C | CA391361439 | OCA2 | c.1959T>G (p.Ile653Met) c.1887T>G (p.Ile629Met) c.1983T>G (p.Ile661Met) c.1911T>G (p.Ile637Met) c.1845T>G (p.Ile615Met) c.1788T>G (p.Ile596Met) | gnomAD v4 |
| 15 | g.27926247A>G | CA488959334 | OCA2 | c.1959T>C (p.Ile653=) c.1887T>C (p.Ile629=) c.1983T>C (p.Ile661=) c.1911T>C (p.Ile637=) c.1845T>C (p.Ile615=) c.1788T>C (p.Ile596=) | |
| 15 | g.27926247A>T | CA488959335 | OCA2 | c.1959T>A (p.Ile653=) c.1887T>A (p.Ile629=) c.1983T>A (p.Ile661=) c.1911T>A (p.Ile637=) c.1845T>A (p.Ile615=) c.1788T>A (p.Ile596=) | |
| 15 | g.27926248A>C | CA391361443 | OCA2 | c.1958T>G (p.Ile653Ser) c.1886T>G (p.Ile629Ser) c.1982T>G (p.Ile661Ser) c.1910T>G (p.Ile637Ser) c.1844T>G (p.Ile615Ser) c.1787T>G (p.Ile596Ser) | |
| 15 | g.27926248A>G | CA391361448 | OCA2 | c.1958T>C (p.Ile653Thr) c.1886T>C (p.Ile629Thr) c.1982T>C (p.Ile661Thr) c.1910T>C (p.Ile637Thr) c.1844T>C (p.Ile615Thr) c.1787T>C (p.Ile596Thr) | |
| 15 | g.27926248A>T | CA391361458 | OCA2 | c.1958T>A (p.Ile653Asn) c.1886T>A (p.Ile629Asn) c.1982T>A (p.Ile661Asn) c.1910T>A (p.Ile637Asn) c.1844T>A (p.Ile615Asn) c.1787T>A (p.Ile596Asn) | |
| 15 | g.27926249T>A | CA391361464 | OCA2 | c.1957A>T (p.Ile653Phe) c.1885A>T (p.Ile629Phe) c.1981A>T (p.Ile661Phe) c.1909A>T (p.Ile637Phe) c.1843A>T (p.Ile615Phe) c.1786A>T (p.Ile596Phe) | |
| 15 | g.27926249T>C | CA391361467 | OCA2 | c.1957A>G (p.Ile653Val) c.1885A>G (p.Ile629Val) c.1981A>G (p.Ile661Val) c.1909A>G (p.Ile637Val) c.1843A>G (p.Ile615Val) c.1786A>G (p.Ile596Val) | |
| 15 | g.27926249T>G | CA391361469 | OCA2 | c.1957A>C (p.Ile653Leu) c.1885A>C (p.Ile629Leu) c.1981A>C (p.Ile661Leu) c.1909A>C (p.Ile637Leu) c.1843A>C (p.Ile615Leu) c.1786A>C (p.Ile596Leu) | gnomAD v4 |
| 15 | g.27926250C>A | CA391361470 | OCA2 | c.1956G>T (p.Trp652Cys) c.1884G>T (p.Trp628Cys) c.1980G>T (p.Trp660Cys) c.1908G>T (p.Trp636Cys) c.1842G>T (p.Trp614Cys) c.1785G>T (p.Trp595Cys) | COSMIC |
| 15 | g.27926250C>G | CA391361475 | OCA2 | c.1956G>C (p.Trp652Cys) c.1884G>C (p.Trp628Cys) c.1980G>C (p.Trp660Cys) c.1908G>C (p.Trp636Cys) c.1842G>C (p.Trp614Cys) c.1785G>C (p.Trp595Cys) | |
| 15 | g.27926250C>T | CA391361472 | OCA2 | c.1956G>A (p.Trp652Ter) c.1884G>A (p.Trp628Ter) c.1980G>A (p.Trp660Ter) c.1908G>A (p.Trp636Ter) c.1842G>A (p.Trp614Ter) c.1785G>A (p.Trp595Ter) | |
| 15 | g.27926251C>A | CA391361478 | OCA2 | c.1955G>T (p.Trp652Leu) c.1883G>T (p.Trp628Leu) c.1979G>T (p.Trp660Leu) c.1907G>T (p.Trp636Leu) c.1841G>T (p.Trp614Leu) c.1784G>T (p.Trp595Leu) | |
| 15 | g.27926251C>G | CA391361481 | OCA2 | c.1955G>C (p.Trp652Ser) c.1883G>C (p.Trp628Ser) c.1979G>C (p.Trp660Ser) c.1907G>C (p.Trp636Ser) c.1841G>C (p.Trp614Ser) c.1784G>C (p.Trp595Ser) | |
| 15 | g.27926251C>T | CA391361484 | OCA2 | c.1955G>A (p.Trp652Ter) c.1883G>A (p.Trp628Ter) c.1979G>A (p.Trp660Ter) c.1907G>A (p.Trp636Ter) c.1841G>A (p.Trp614Ter) c.1784G>A (p.Trp595Ter) | |
| 15 | g.27926252A= | CA2166365103 | OCA2 | c.1954T= (p.Trp652=) c.1882T= (p.Trp628=) c.1978T= (p.Trp660=) c.1906T= (p.Trp636=) c.1840T= (p.Trp614=) c.1783T= (p.Trp595=) | |
| 15 | g.27926252A>C | CA391361486 | OCA2 | c.1954T>G (p.Trp652Gly) c.1882T>G (p.Trp628Gly) c.1978T>G (p.Trp660Gly) c.1906T>G (p.Trp636Gly) c.1840T>G (p.Trp614Gly) c.1783T>G (p.Trp595Gly) | |
| 15 | g.27926252A>G | CA391361487 | OCA2 | c.1954T>C (p.Trp652Arg) c.1882T>C (p.Trp628Arg) c.1978T>C (p.Trp660Arg) c.1906T>C (p.Trp636Arg) c.1840T>C (p.Trp614Arg) c.1783T>C (p.Trp595Arg) | |
| 15 | g.27926252A>T | CA10605608 | OCA2 | c.1954T>A (p.Trp652Arg) c.1882T>A (p.Trp628Arg) c.1978T>A (p.Trp660Arg) c.1906T>A (p.Trp636Arg) c.1840T>A (p.Trp614Arg) c.1783T>A (p.Trp595Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926253T>A | CA488959336 | OCA2 | c.1953A>T (p.Gly651=) c.1881A>T (p.Gly627=) c.1977A>T (p.Gly659=) c.1905A>T (p.Gly635=) c.1839A>T (p.Gly613=) c.1782A>T (p.Gly594=) | |
| 15 | g.27926253T>C | CA488959337 | OCA2 | c.1953A>G (p.Gly651=) c.1881A>G (p.Gly627=) c.1977A>G (p.Gly659=) c.1905A>G (p.Gly635=) c.1839A>G (p.Gly613=) c.1782A>G (p.Gly594=) | |
| 15 | g.27926253T>G | CA488959338 | OCA2 | c.1953A>C (p.Gly651=) c.1881A>C (p.Gly627=) c.1977A>C (p.Gly659=) c.1905A>C (p.Gly635=) c.1839A>C (p.Gly613=) c.1782A>C (p.Gly594=) | |
| 15 | g.27926254C>A | CA391361490 | OCA2 | c.1952G>T (p.Gly651Val) c.1880G>T (p.Gly627Val) c.1976G>T (p.Gly659Val) c.1904G>T (p.Gly635Val) c.1838G>T (p.Gly613Val) c.1781G>T (p.Gly594Val) | |
| 15 | g.27926254C>G | CA391361492 | OCA2 | c.1952G>C (p.Gly651Ala) c.1880G>C (p.Gly627Ala) c.1976G>C (p.Gly659Ala) c.1904G>C (p.Gly635Ala) c.1838G>C (p.Gly613Ala) c.1781G>C (p.Gly594Ala) | |
| 15 | g.27926254C>T | CA391361495 | OCA2 | c.1952G>A (p.Gly651Glu) c.1880G>A (p.Gly627Glu) c.1976G>A (p.Gly659Glu) c.1904G>A (p.Gly635Glu) c.1838G>A (p.Gly613Glu) c.1781G>A (p.Gly594Glu) | gnomAD v4 |
| 15 | g.27926255C>A | CA391361499 | OCA2 | c.1952-1G>T (n.1952-1G>T) c.1880-1G>T (n.1880-1G>T) c.1976-1G>T (n.1976-1G>T) c.1904-1G>T (n.1904-1G>T) c.1838-1G>T (n.1838-1G>T) c.1781-1G>T (n.1781-1G>T) | COSMIC |
| 15 | g.27926255C>G | CA391361501 | OCA2 | c.1952-1G>C (n.1952-1G>C) c.1880-1G>C (n.1880-1G>C) c.1976-1G>C (n.1976-1G>C) c.1904-1G>C (n.1904-1G>C) c.1838-1G>C (n.1838-1G>C) c.1781-1G>C (n.1781-1G>C) | |
| 15 | g.27926255C>T | CA391361503 | OCA2 | c.1952-1G>A (n.1952-1G>A) c.1880-1G>A (n.1880-1G>A) c.1976-1G>A (n.1976-1G>A) c.1904-1G>A (n.1904-1G>A) c.1838-1G>A (n.1838-1G>A) c.1781-1G>A (n.1781-1G>A) | |
| 15 | g.27926256T>A | CA391361517 | OCA2 | c.1952-2A>T (n.1952-2A>T) c.1880-2A>T (n.1880-2A>T) c.1976-2A>T (n.1976-2A>T) c.1904-2A>T (n.1904-2A>T) c.1838-2A>T (n.1838-2A>T) c.1781-2A>T (n.1781-2A>T) | |
| 15 | g.27926256T>C | CA391361510 | OCA2 | c.1952-2A>G (n.1952-2A>G) c.1880-2A>G (n.1880-2A>G) c.1976-2A>G (n.1976-2A>G) c.1904-2A>G (n.1904-2A>G) c.1838-2A>G (n.1838-2A>G) c.1781-2A>G (n.1781-2A>G) | |
| 15 | g.27926256T>G | CA391361513 | OCA2 | c.1952-2A>C (n.1952-2A>C) c.1880-2A>C (n.1880-2A>C) c.1976-2A>C (n.1976-2A>C) c.1904-2A>C (n.1904-2A>C) c.1838-2A>C (n.1838-2A>C) c.1781-2A>C (n.1781-2A>C) | |
| 15 | g.27926257G>A | CA2575652944 | OCA2 | c.1952-3C>T (n.1952-3C>T) c.1880-3C>T (n.1880-3C>T) c.1976-3C>T (n.1976-3C>T) c.1904-3C>T (n.1904-3C>T) c.1838-3C>T (n.1838-3C>T) c.1781-3C>T (n.1781-3C>T) | |
| 15 | g.27926257G>T | CA2695219759 | OCA2 | c.1952-3C>A (n.1952-3C>A) c.1880-3C>A (n.1880-3C>A) c.1976-3C>A (n.1976-3C>A) c.1904-3C>A (n.1904-3C>A) c.1838-3C>A (n.1838-3C>A) c.1781-3C>A (n.1781-3C>A) | |
| 15 | g.27926261A>C | CA2580089210 | OCA2 | c.1952-7T>G (n.1952-7T>G) c.1880-7T>G (n.1880-7T>G) c.1976-7T>G (n.1976-7T>G) c.1904-7T>G (n.1904-7T>G) c.1838-7T>G (n.1838-7T>G) c.1781-7T>G (n.1781-7T>G) | ClinVar |
| 15 | g.27926261A>G | CA2627379636 | OCA2 | c.1952-7T>C (n.1952-7T>C) c.1880-7T>C (n.1880-7T>C) c.1976-7T>C (n.1976-7T>C) c.1904-7T>C (n.1904-7T>C) c.1838-7T>C (n.1838-7T>C) c.1781-7T>C (n.1781-7T>C) | gnomAD v4 |
| 15 | g.27926262T>C | CA711678715 | OCA2 | c.1952-8A>G (n.1952-8A>G) c.1880-8A>G (n.1880-8A>G) c.1976-8A>G (n.1976-8A>G) c.1904-8A>G (n.1904-8A>G) c.1838-8A>G (n.1838-8A>G) c.1781-8A>G (n.1781-8A>G) | dbSNP |
| 15 | g.27926262T= | CA2166365104 | OCA2 | c.1952-8A= (n.1952-8A=) c.1880-8A= (n.1880-8A=) c.1976-8A= (n.1976-8A=) c.1904-8A= (n.1904-8A=) c.1838-8A= (n.1838-8A=) c.1781-8A= (n.1781-8A=) | |
| 15 | g.27926264A= | CA2166365105 | OCA2 | c.1952-10T= (n.1952-10T=) c.1880-10T= (n.1880-10T=) c.1976-10T= (n.1976-10T=) c.1904-10T= (n.1904-10T=) c.1838-10T= (n.1838-10T=) c.1781-10T= (n.1781-10T=) | |
| 15 | g.27926264A>T | CA2166365106 | OCA2 | c.1952-10T>A (n.1952-10T>A) c.1880-10T>A (n.1880-10T>A) c.1976-10T>A (n.1976-10T>A) c.1904-10T>A (n.1904-10T>A) c.1838-10T>A (n.1838-10T>A) c.1781-10T>A (n.1781-10T>A) | dbSNP gnomAD v4 |
| 15 | g.27926265G>A | CA2575652945 | OCA2 | c.1952-11C>T (n.1952-11C>T) c.1880-11C>T (n.1880-11C>T) c.1976-11C>T (n.1976-11C>T) c.1904-11C>T (n.1904-11C>T) c.1838-11C>T (n.1838-11C>T) c.1781-11C>T (n.1781-11C>T) | ClinVar gnomAD v4 |
| 15 | g.27926268A= | CA2166365107 | OCA2 | c.1952-14T= (n.1952-14T=) c.1880-14T= (n.1880-14T=) c.1976-14T= (n.1976-14T=) c.1904-14T= (n.1904-14T=) c.1838-14T= (n.1838-14T=) c.1781-14T= (n.1781-14T=) | |
| 15 | g.27926268A>G | CA7438799 | OCA2 | c.1952-14T>C (n.1952-14T>C) c.1880-14T>C (n.1880-14T>C) c.1976-14T>C (n.1976-14T>C) c.1904-14T>C (n.1904-14T>C) c.1838-14T>C (n.1838-14T>C) c.1781-14T>C (n.1781-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926268A>T | CA616704983 | OCA2 | c.1952-14T>A (n.1952-14T>A) c.1880-14T>A (n.1880-14T>A) c.1976-14T>A (n.1976-14T>A) c.1904-14T>A (n.1904-14T>A) c.1838-14T>A (n.1838-14T>A) c.1781-14T>A (n.1781-14T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.27926270T>C | CA7438800 | OCA2 | c.1952-16A>G (n.1952-16A>G) c.1880-16A>G (n.1880-16A>G) c.1976-16A>G (n.1976-16A>G) c.1904-16A>G (n.1904-16A>G) c.1838-16A>G (n.1838-16A>G) c.1781-16A>G (n.1781-16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926270T>G | CA2166365108 | OCA2 | c.1952-16A>C (n.1952-16A>C) c.1880-16A>C (n.1880-16A>C) c.1976-16A>C (n.1976-16A>C) c.1904-16A>C (n.1904-16A>C) c.1838-16A>C (n.1838-16A>C) c.1781-16A>C (n.1781-16A>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.27926270T= | CA2166365109 | OCA2 | c.1952-16A= (n.1952-16A=) c.1880-16A= (n.1880-16A=) c.1976-16A= (n.1976-16A=) c.1904-16A= (n.1904-16A=) c.1838-16A= (n.1838-16A=) c.1781-16A= (n.1781-16A=) | |
| 15 | g.27926272G= | CA2166365110 | OCA2 | c.1952-18C= (n.1952-18C=) c.1880-18C= (n.1880-18C=) c.1976-18C= (n.1976-18C=) c.1904-18C= (n.1904-18C=) c.1838-18C= (n.1838-18C=) c.1781-18C= (n.1781-18C=) | |
| 15 | g.27926272G>T | CA7438801 | OCA2 | c.1952-18C>A (n.1952-18C>A) c.1880-18C>A (n.1880-18C>A) c.1976-18C>A (n.1976-18C>A) c.1904-18C>A (n.1904-18C>A) c.1838-18C>A (n.1838-18C>A) c.1781-18C>A (n.1781-18C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926273A= | CA2166365111 | OCA2 | c.1952-19T= (n.1952-19T=) c.1880-19T= (n.1880-19T=) c.1976-19T= (n.1976-19T=) c.1904-19T= (n.1904-19T=) c.1838-19T= (n.1838-19T=) c.1781-19T= (n.1781-19T=) | |
| 15 | g.27926273A>C | CA2580089212 | OCA2 | c.1952-19T>G (n.1952-19T>G) c.1880-19T>G (n.1880-19T>G) c.1976-19T>G (n.1976-19T>G) c.1904-19T>G (n.1904-19T>G) c.1838-19T>G (n.1838-19T>G) c.1781-19T>G (n.1781-19T>G) | ClinVar |
| 15 | g.27926273A>G | CA7438802 | OCA2 | c.1952-19T>C (n.1952-19T>C) c.1880-19T>C (n.1880-19T>C) c.1976-19T>C (n.1976-19T>C) c.1904-19T>C (n.1904-19T>C) c.1838-19T>C (n.1838-19T>C) c.1781-19T>C (n.1781-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926274C>T | CA2627379646 | OCA2 | c.1952-20G>A (n.1952-20G>A) c.1880-20G>A (n.1880-20G>A) c.1976-20G>A (n.1976-20G>A) c.1904-20G>A (n.1904-20G>A) c.1838-20G>A (n.1838-20G>A) c.1781-20G>A (n.1781-20G>A) | gnomAD v4 |
| 15 | g.27926274_27926276delinsCAT | CA2166365112 | OCA2 | c.1952-22_1952-20delinsATG (n.1952-22_1952-20delinsATG) c.1880-22_1880-20delinsATG (n.1880-22_1880-20delinsATG) c.1976-22_1976-20delinsATG (n.1976-22_1976-20delinsATG) c.1904-22_1904-20delinsATG (n.1904-22_1904-20delinsATG) c.1838-22_1838-20delinsATG (n.1838-22_1838-20delinsATG) c.1781-22_1781-20delinsATG (n.1781-22_1781-20delinsATG) | |
| 15 | g.27926275A>G | CA2627379648 | OCA2 | c.1952-21T>C (n.1952-21T>C) c.1880-21T>C (n.1880-21T>C) c.1976-21T>C (n.1976-21T>C) c.1904-21T>C (n.1904-21T>C) c.1838-21T>C (n.1838-21T>C) c.1781-21T>C (n.1781-21T>C) | gnomAD v4 |
| 15 | g.27926276_27926277del | CA7438803 | OCA2 | c.1952-22_1952-21del (n.1952-22_1952-21del) c.1880-22_1880-21del (n.1880-22_1880-21del) c.1976-22_1976-21del (n.1976-22_1976-21del) c.1904-22_1904-21del (n.1904-22_1904-21del) c.1838-22_1838-21del (n.1838-22_1838-21del) c.1781-22_1781-21del (n.1781-22_1781-21del) | dbSNP ExAC gnomAD v4 |
| 15 | g.27926278_27926283del | CA2627379647 | OCA2 | c.1952-26_1952-21del (n.1952-26_1952-21del) c.1880-26_1880-21del (n.1880-26_1880-21del) c.1976-26_1976-21del (n.1976-26_1976-21del) c.1904-26_1904-21del (n.1904-26_1904-21del) c.1838-26_1838-21del (n.1838-26_1838-21del) c.1781-26_1781-21del (n.1781-26_1781-21del) | gnomAD v4 |
| 15 | g.27926275_27926276insACC | CA2803504092 | OCA2 | c.1952-22_1952-21insGGT (n.1952-22_1952-21insGGT) c.1880-22_1880-21insGGT (n.1880-22_1880-21insGGT) c.1976-22_1976-21insGGT (n.1976-22_1976-21insGGT) c.1904-22_1904-21insGGT (n.1904-22_1904-21insGGT) c.1838-22_1838-21insGGT (n.1838-22_1838-21insGGT) c.1781-22_1781-21insGGT (n.1781-22_1781-21insGGT) | |
| 15 | g.27926276T>C | CA7438804 | OCA2 | c.1952-22A>G (n.1952-22A>G) c.1880-22A>G (n.1880-22A>G) c.1976-22A>G (n.1976-22A>G) c.1904-22A>G (n.1904-22A>G) c.1838-22A>G (n.1838-22A>G) c.1781-22A>G (n.1781-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926276T>G | CA7438805 | OCA2 | c.1952-22A>C (n.1952-22A>C) c.1880-22A>C (n.1880-22A>C) c.1976-22A>C (n.1976-22A>C) c.1904-22A>C (n.1904-22A>C) c.1838-22A>C (n.1838-22A>C) c.1781-22A>C (n.1781-22A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27926276T= | CA2166365113 | OCA2 | c.1952-22A= (n.1952-22A=) c.1880-22A= (n.1880-22A=) c.1976-22A= (n.1976-22A=) c.1904-22A= (n.1904-22A=) c.1838-22A= (n.1838-22A=) c.1781-22A= (n.1781-22A=) | |
| 15 | g.27926277A= | CA2166365114 | OCA2 | c.1952-23T= (n.1952-23T=) c.1880-23T= (n.1880-23T=) c.1976-23T= (n.1976-23T=) c.1904-23T= (n.1904-23T=) c.1838-23T= (n.1838-23T=) c.1781-23T= (n.1781-23T=) | |
| 15 | g.27926277A>G | CA7438806 | OCA2 | c.1952-23T>C (n.1952-23T>C) c.1880-23T>C (n.1880-23T>C) c.1976-23T>C (n.1976-23T>C) c.1904-23T>C (n.1904-23T>C) c.1838-23T>C (n.1838-23T>C) c.1781-23T>C (n.1781-23T>C) | dbSNP ExAC gnomAD v4 |
| 15 | g.27926278G>A | CA267867275 | OCA2 | c.1952-24C>T (n.1952-24C>T) c.1880-24C>T (n.1880-24C>T) c.1976-24C>T (n.1976-24C>T) c.1904-24C>T (n.1904-24C>T) c.1838-24C>T (n.1838-24C>T) c.1781-24C>T (n.1781-24C>T) | dbSNP gnomAD v4 |
| 15 | g.27926278G= | CA2166365115 | OCA2 | c.1952-24C= (n.1952-24C=) c.1880-24C= (n.1880-24C=) c.1976-24C= (n.1976-24C=) c.1904-24C= (n.1904-24C=) c.1838-24C= (n.1838-24C=) c.1781-24C= (n.1781-24C=) | |
| 15 | g.27926279A>T | CA2627379650 | OCA2 | c.1952-25T>A (n.1952-25T>A) c.1880-25T>A (n.1880-25T>A) c.1976-25T>A (n.1976-25T>A) c.1904-25T>A (n.1904-25T>A) c.1838-25T>A (n.1838-25T>A) c.1781-25T>A (n.1781-25T>A) | gnomAD v4 |
| 15 | g.27926280G>A | CA2627379651 | OCA2 | c.1952-26C>T (n.1952-26C>T) c.1880-26C>T (n.1880-26C>T) c.1976-26C>T (n.1976-26C>T) c.1904-26C>T (n.1904-26C>T) c.1838-26C>T (n.1838-26C>T) c.1781-26C>T (n.1781-26C>T) | gnomAD v4 |
| 15 | g.27926282T>C | CA7438807 | OCA2 | c.1952-28A>G (n.1952-28A>G) c.1880-28A>G (n.1880-28A>G) c.1976-28A>G (n.1976-28A>G) c.1904-28A>G (n.1904-28A>G) c.1838-28A>G (n.1838-28A>G) c.1781-28A>G (n.1781-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926282T= | CA2166365116 | OCA2 | c.1952-28A= (n.1952-28A=) c.1880-28A= (n.1880-28A=) c.1976-28A= (n.1976-28A=) c.1904-28A= (n.1904-28A=) c.1838-28A= (n.1838-28A=) c.1781-28A= (n.1781-28A=) | |
| 15 | g.27926283A= | CA2166365117 | OCA2 | c.1952-29T= (n.1952-29T=) c.1880-29T= (n.1880-29T=) c.1976-29T= (n.1976-29T=) c.1904-29T= (n.1904-29T=) c.1838-29T= (n.1838-29T=) c.1781-29T= (n.1781-29T=) | |
| 15 | g.27926283A>G | CA7438808 | OCA2 | c.1952-29T>C (n.1952-29T>C) c.1880-29T>C (n.1880-29T>C) c.1976-29T>C (n.1976-29T>C) c.1904-29T>C (n.1904-29T>C) c.1838-29T>C (n.1838-29T>C) c.1781-29T>C (n.1781-29T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926284T>C | CA7438809 | OCA2 | c.1952-30A>G (n.1952-30A>G) c.1880-30A>G (n.1880-30A>G) c.1976-30A>G (n.1976-30A>G) c.1904-30A>G (n.1904-30A>G) c.1838-30A>G (n.1838-30A>G) c.1781-30A>G (n.1781-30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.27926284T= | CA2166365118 | OCA2 | c.1952-30A= (n.1952-30A=) c.1880-30A= (n.1880-30A=) c.1976-30A= (n.1976-30A=) c.1904-30A= (n.1904-30A=) c.1838-30A= (n.1838-30A=) c.1781-30A= (n.1781-30A=) | |
| 15 | g.27926286G>A | CA2627379655 | OCA2 | c.1952-32C>T (n.1952-32C>T) c.1880-32C>T (n.1880-32C>T) c.1976-32C>T (n.1976-32C>T) c.1904-32C>T (n.1904-32C>T) c.1838-32C>T (n.1838-32C>T) c.1781-32C>T (n.1781-32C>T) | gnomAD v4 |
| 15 | g.27926286G>C | CA2627379656 | OCA2 | c.1952-32C>G (n.1952-32C>G) c.1880-32C>G (n.1880-32C>G) c.1976-32C>G (n.1976-32C>G) c.1904-32C>G (n.1904-32C>G) c.1838-32C>G (n.1838-32C>G) c.1781-32C>G (n.1781-32C>G) | gnomAD v4 |
| 15 | g.27926286G= | CA2166365119 | OCA2 | c.1952-32C= (n.1952-32C=) c.1880-32C= (n.1880-32C=) c.1976-32C= (n.1976-32C=) c.1904-32C= (n.1904-32C=) c.1838-32C= (n.1838-32C=) c.1781-32C= (n.1781-32C=) | |
| 15 | g.27926286G>T | CA2166365120 | OCA2 | c.1952-32C>A (n.1952-32C>A) c.1880-32C>A (n.1880-32C>A) c.1976-32C>A (n.1976-32C>A) c.1904-32C>A (n.1904-32C>A) c.1838-32C>A (n.1838-32C>A) c.1781-32C>A (n.1781-32C>A) | dbSNP |
| 15 | g.27926287T>C | CA2575652946 | OCA2 | c.1952-33A>G (n.1952-33A>G) c.1880-33A>G (n.1880-33A>G) c.1976-33A>G (n.1976-33A>G) c.1904-33A>G (n.1904-33A>G) c.1838-33A>G (n.1838-33A>G) c.1781-33A>G (n.1781-33A>G) | gnomAD v4 |
| 15 | g.27926287_27926288insACA | CA2803504093 | OCA2 | c.1952-34_1952-33insTGT (n.1952-34_1952-33insTGT) c.1880-34_1880-33insTGT (n.1880-34_1880-33insTGT) c.1976-34_1976-33insTGT (n.1976-34_1976-33insTGT) c.1904-34_1904-33insTGT (n.1904-34_1904-33insTGT) c.1838-34_1838-33insTGT (n.1838-34_1838-33insTGT) c.1781-34_1781-33insTGT (n.1781-34_1781-33insTGT) | |
| 15 | g.27926288T>C | CA2627379659 | OCA2 | c.1952-34A>G (n.1952-34A>G) c.1880-34A>G (n.1880-34A>G) c.1976-34A>G (n.1976-34A>G) c.1904-34A>G (n.1904-34A>G) c.1838-34A>G (n.1838-34A>G) c.1781-34A>G (n.1781-34A>G) | gnomAD v4 |
| 15 | g.27926289_27926290insAGAT | CA2803504094 | OCA2 | c.1952-36_1952-35insATCT (n.1952-36_1952-35insATCT) c.1880-36_1880-35insATCT (n.1880-36_1880-35insATCT) c.1976-36_1976-35insATCT (n.1976-36_1976-35insATCT) c.1904-36_1904-35insATCT (n.1904-36_1904-35insATCT) c.1838-36_1838-35insATCT (n.1838-36_1838-35insATCT) c.1781-36_1781-35insATCT (n.1781-36_1781-35insATCT) | |
| 15 | g.27926290C= | CA2166365121 | OCA2 | c.1952-36G= (n.1952-36G=) c.1880-36G= (n.1880-36G=) c.1976-36G= (n.1976-36G=) c.1904-36G= (n.1904-36G=) c.1838-36G= (n.1838-36G=) c.1781-36G= (n.1781-36G=) | |
| 15 | g.27926290C>T | CA616705031 | OCA2 | c.1952-36G>A (n.1952-36G>A) c.1880-36G>A (n.1880-36G>A) c.1976-36G>A (n.1976-36G>A) c.1904-36G>A (n.1904-36G>A) c.1838-36G>A (n.1838-36G>A) c.1781-36G>A (n.1781-36G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |