UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.27955166G>A | CA391365144 | OCA2 | c.1834C>T (p.Gln612Ter) c.1762C>T (p.Gln588Ter) c.1858C>T (p.Gln620Ter) c.1786C>T (p.Gln596Ter) c.1720C>T (p.Gln574Ter) c.1663C>T (p.Gln555Ter) | ClinVar |
| 15 | g.27955166G>C | CA391365145 | OCA2 | c.1834C>G (p.Gln612Glu) c.1762C>G (p.Gln588Glu) c.1858C>G (p.Gln620Glu) c.1786C>G (p.Gln596Glu) c.1720C>G (p.Gln574Glu) c.1663C>G (p.Gln555Glu) | |
| 15 | g.27955166G>T | CA391365146 | OCA2 | c.1834C>A (p.Gln612Lys) c.1762C>A (p.Gln588Lys) c.1858C>A (p.Gln620Lys) c.1786C>A (p.Gln596Lys) c.1720C>A (p.Gln574Lys) c.1663C>A (p.Gln555Lys) | |
| 15 | g.27955166_27955169del | CA968029634 | OCA2 | c.1831_1834del (p.Leu611LysfsTer16) c.1759_1762del (p.Leu587LysfsTer16) c.1855_1858del (p.Leu619LysfsTer16) c.1783_1786del (p.Leu595LysfsTer16) c.1717_1720del (p.Leu573LysfsTer16) c.1855_1858del (p.Leu619LysfsTer?) c.1660_1663del (p.Leu554LysfsTer16) | gnomAD v3 gnomAD v4 |
| 15 | g.27955167G>A | CA488959897 | OCA2 | c.1833C>T (p.Leu611=) c.1761C>T (p.Leu587=) c.1857C>T (p.Leu619=) c.1785C>T (p.Leu595=) c.1719C>T (p.Leu573=) c.1662C>T (p.Leu554=) | |
| 15 | g.27955167G>C | CA488959898 | OCA2 | c.1833C>G (p.Leu611=) c.1761C>G (p.Leu587=) c.1857C>G (p.Leu619=) c.1785C>G (p.Leu595=) c.1719C>G (p.Leu573=) c.1662C>G (p.Leu554=) | ClinVar COSMIC COSMIC |
| 15 | g.27955167G>T | CA488959899 | OCA2 | c.1833C>A (p.Leu611=) c.1761C>A (p.Leu587=) c.1857C>A (p.Leu619=) c.1785C>A (p.Leu595=) c.1719C>A (p.Leu573=) c.1662C>A (p.Leu554=) | |
| 15 | g.27955168A= | CA2166399790 | OCA2 | c.1832T= (p.Leu611=) c.1760T= (p.Leu587=) c.1856T= (p.Leu619=) c.1784T= (p.Leu595=) c.1718T= (p.Leu573=) c.1661T= (p.Leu554=) | |
| 15 | g.27955168A>C | CA391365147 | OCA2 | c.1832T>G (p.Leu611Arg) c.1760T>G (p.Leu587Arg) c.1856T>G (p.Leu619Arg) c.1784T>G (p.Leu595Arg) c.1718T>G (p.Leu573Arg) c.1661T>G (p.Leu554Arg) | |
| 15 | g.27955168A>G | CA7438893 | OCA2 | c.1832T>C (p.Leu611Pro) c.1760T>C (p.Leu587Pro) c.1856T>C (p.Leu619Pro) c.1784T>C (p.Leu595Pro) c.1718T>C (p.Leu573Pro) c.1661T>C (p.Leu554Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27955168A>T | CA391365148 | OCA2 | c.1832T>A (p.Leu611His) c.1760T>A (p.Leu587His) c.1856T>A (p.Leu619His) c.1784T>A (p.Leu595His) c.1718T>A (p.Leu573His) c.1661T>A (p.Leu554His) | |
| 15 | g.27955169G>A | CA391365150 | OCA2 | c.1831C>T (p.Leu611Phe) c.1759C>T (p.Leu587Phe) c.1855C>T (p.Leu619Phe) c.1783C>T (p.Leu595Phe) c.1717C>T (p.Leu573Phe) c.1660C>T (p.Leu554Phe) | |
| 15 | g.27955169G>C | CA7438894 | OCA2 | c.1831C>G (p.Leu611Val) c.1759C>G (p.Leu587Val) c.1855C>G (p.Leu619Val) c.1783C>G (p.Leu595Val) c.1717C>G (p.Leu573Val) c.1660C>G (p.Leu554Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.27955169G= | CA2166399793 | OCA2 | c.1831C= (p.Leu611=) c.1759C= (p.Leu587=) c.1855C= (p.Leu619=) c.1783C= (p.Leu595=) c.1717C= (p.Leu573=) c.1660C= (p.Leu554=) | |
| 15 | g.27955169G>T | CA391365149 | OCA2 | c.1831C>A (p.Leu611Ile) c.1759C>A (p.Leu587Ile) c.1855C>A (p.Leu619Ile) c.1783C>A (p.Leu595Ile) c.1717C>A (p.Leu573Ile) c.1660C>A (p.Leu554Ile) | |
| 15 | g.27955170T>A | CA391365151 | OCA2 | c.1830A>T (p.Glu610Asp) c.1758A>T (p.Glu586Asp) c.1854A>T (p.Glu618Asp) c.1782A>T (p.Glu594Asp) c.1716A>T (p.Glu572Asp) c.1659A>T (p.Glu553Asp) | |
| 15 | g.27955170T>C | CA488959901 | OCA2 | c.1830A>G (p.Glu610=) c.1758A>G (p.Glu586=) c.1854A>G (p.Glu618=) c.1782A>G (p.Glu594=) c.1716A>G (p.Glu572=) c.1659A>G (p.Glu553=) | |
| 15 | g.27955170T>G | CA391365152 | OCA2 | c.1830A>C (p.Glu610Asp) c.1758A>C (p.Glu586Asp) c.1854A>C (p.Glu618Asp) c.1782A>C (p.Glu594Asp) c.1716A>C (p.Glu572Asp) c.1659A>C (p.Glu553Asp) | |
| 15 | g.27955171T>A | CA391365153 | OCA2 | c.1829A>T (p.Glu610Val) c.1757A>T (p.Glu586Val) c.1853A>T (p.Glu618Val) c.1781A>T (p.Glu594Val) c.1715A>T (p.Glu572Val) c.1658A>T (p.Glu553Val) | |
| 15 | g.27955171T>C | CA391365154 | OCA2 | c.1829A>G (p.Glu610Gly) c.1757A>G (p.Glu586Gly) c.1853A>G (p.Glu618Gly) c.1781A>G (p.Glu594Gly) c.1715A>G (p.Glu572Gly) c.1658A>G (p.Glu553Gly) | |
| 15 | g.27955171T>G | CA391365155 | OCA2 | c.1829A>C (p.Glu610Ala) c.1757A>C (p.Glu586Ala) c.1853A>C (p.Glu618Ala) c.1781A>C (p.Glu594Ala) c.1715A>C (p.Glu572Ala) c.1658A>C (p.Glu553Ala) | |
| 15 | g.27955172C>A | CA391365156 | OCA2 | c.1828G>T (p.Glu610Ter) c.1756G>T (p.Glu586Ter) c.1852G>T (p.Glu618Ter) c.1780G>T (p.Glu594Ter) c.1714G>T (p.Glu572Ter) c.1657G>T (p.Glu553Ter) | ClinVar COSMIC COSMIC |
| 15 | g.27955172C>G | CA391365157 | OCA2 | c.1828G>C (p.Glu610Gln) c.1756G>C (p.Glu586Gln) c.1852G>C (p.Glu618Gln) c.1780G>C (p.Glu594Gln) c.1714G>C (p.Glu572Gln) c.1657G>C (p.Glu553Gln) | |
| 15 | g.27955172C>T | CA391365158 | OCA2 | c.1828G>A (p.Glu610Lys) c.1756G>A (p.Glu586Lys) c.1852G>A (p.Glu618Lys) c.1780G>A (p.Glu594Lys) c.1714G>A (p.Glu572Lys) c.1657G>A (p.Glu553Lys) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.27955173T>A | CA391365159 | OCA2 | c.1827A>T (p.Gln609His) c.1755A>T (p.Gln585His) c.1851A>T (p.Gln617His) c.1779A>T (p.Gln593His) c.1713A>T (p.Gln571His) c.1656A>T (p.Gln552His) | |
| 15 | g.27955173T>C | CA488959904 | OCA2 | c.1827A>G (p.Gln609=) c.1755A>G (p.Gln585=) c.1851A>G (p.Gln617=) c.1779A>G (p.Gln593=) c.1713A>G (p.Gln571=) c.1656A>G (p.Gln552=) | gnomAD v4 COSMIC COSMIC |
| 15 | g.27955173T>G | CA391365160 | OCA2 | c.1827A>C (p.Gln609His) c.1755A>C (p.Gln585His) c.1851A>C (p.Gln617His) c.1779A>C (p.Gln593His) c.1713A>C (p.Gln571His) c.1656A>C (p.Gln552His) | |
| 15 | g.27955174T>A | CA391365161 | OCA2 | c.1826A>T (p.Gln609Leu) c.1754A>T (p.Gln585Leu) c.1850A>T (p.Gln617Leu) c.1778A>T (p.Gln593Leu) c.1712A>T (p.Gln571Leu) c.1655A>T (p.Gln552Leu) | |
| 15 | g.27955174T>C | CA391365162 | OCA2 | c.1826A>G (p.Gln609Arg) c.1754A>G (p.Gln585Arg) c.1850A>G (p.Gln617Arg) c.1778A>G (p.Gln593Arg) c.1712A>G (p.Gln571Arg) c.1655A>G (p.Gln552Arg) | |
| 15 | g.27955174T>G | CA391365163 | OCA2 | c.1826A>C (p.Gln609Pro) c.1754A>C (p.Gln585Pro) c.1850A>C (p.Gln617Pro) c.1778A>C (p.Gln593Pro) c.1712A>C (p.Gln571Pro) c.1655A>C (p.Gln552Pro) | gnomAD v4 |
| 15 | g.27955175G>A | CA391365166 | OCA2 | c.1825C>T (p.Gln609Ter) c.1753C>T (p.Gln585Ter) c.1849C>T (p.Gln617Ter) c.1777C>T (p.Gln593Ter) c.1711C>T (p.Gln571Ter) c.1654C>T (p.Gln552Ter) | gnomAD v4 |
| 15 | g.27955175G>C | CA391365164 | OCA2 | c.1825C>G (p.Gln609Glu) c.1753C>G (p.Gln585Glu) c.1849C>G (p.Gln617Glu) c.1777C>G (p.Gln593Glu) c.1711C>G (p.Gln571Glu) c.1654C>G (p.Gln552Glu) | |
| 15 | g.27955175G>T | CA391365165 | OCA2 | c.1825C>A (p.Gln609Lys) c.1753C>A (p.Gln585Lys) c.1849C>A (p.Gln617Lys) c.1777C>A (p.Gln593Lys) c.1711C>A (p.Gln571Lys) c.1654C>A (p.Gln552Lys) | |
| 15 | g.27955176G>A | CA488959907 | OCA2 | c.1824C>T (p.Ile608=) c.1752C>T (p.Ile584=) c.1848C>T (p.Ile616=) c.1776C>T (p.Ile592=) c.1710C>T (p.Ile570=) c.1653C>T (p.Ile551=) | gnomAD v4 |
| 15 | g.27955176G>C | CA391365167 | OCA2 | c.1824C>G (p.Ile608Met) c.1752C>G (p.Ile584Met) c.1848C>G (p.Ile616Met) c.1776C>G (p.Ile592Met) c.1710C>G (p.Ile570Met) c.1653C>G (p.Ile551Met) | |
| 15 | g.27955176G>T | CA488959910 | OCA2 | c.1824C>A (p.Ile608=) c.1752C>A (p.Ile584=) c.1848C>A (p.Ile616=) c.1776C>A (p.Ile592=) c.1710C>A (p.Ile570=) c.1653C>A (p.Ile551=) | |
| 15 | g.27955177A>C | CA391365168 | OCA2 | c.1823T>G (p.Ile608Ser) c.1751T>G (p.Ile584Ser) c.1847T>G (p.Ile616Ser) c.1775T>G (p.Ile592Ser) c.1709T>G (p.Ile570Ser) c.1652T>G (p.Ile551Ser) | |
| 15 | g.27955177A>G | CA391365169 | OCA2 | c.1823T>C (p.Ile608Thr) c.1751T>C (p.Ile584Thr) c.1847T>C (p.Ile616Thr) c.1775T>C (p.Ile592Thr) c.1709T>C (p.Ile570Thr) c.1652T>C (p.Ile551Thr) | |
| 15 | g.27955177A>T | CA391365170 | OCA2 | c.1823T>A (p.Ile608Asn) c.1751T>A (p.Ile584Asn) c.1847T>A (p.Ile616Asn) c.1775T>A (p.Ile592Asn) c.1709T>A (p.Ile570Asn) c.1652T>A (p.Ile551Asn) | |
| 15 | g.27955178T>A | CA391365171 | OCA2 | c.1822A>T (p.Ile608Phe) c.1750A>T (p.Ile584Phe) c.1846A>T (p.Ile616Phe) c.1774A>T (p.Ile592Phe) c.1708A>T (p.Ile570Phe) c.1651A>T (p.Ile551Phe) | |
| 15 | g.27955178T>C | CA391365172 | OCA2 | c.1822A>G (p.Ile608Val) c.1750A>G (p.Ile584Val) c.1846A>G (p.Ile616Val) c.1774A>G (p.Ile592Val) c.1708A>G (p.Ile570Val) c.1651A>G (p.Ile551Val) | gnomAD v4 |
| 15 | g.27955178T>G | CA391365173 | OCA2 | c.1822A>C (p.Ile608Leu) c.1750A>C (p.Ile584Leu) c.1846A>C (p.Ile616Leu) c.1774A>C (p.Ile592Leu) c.1708A>C (p.Ile570Leu) c.1651A>C (p.Ile551Leu) | |
| 15 | g.27955179A>C | CA391365174 | OCA2 | c.1821T>G (p.Asn607Lys) c.1749T>G (p.Asn583Lys) c.1845T>G (p.Asn615Lys) c.1773T>G (p.Asn591Lys) c.1707T>G (p.Asn569Lys) c.1650T>G (p.Asn550Lys) | |
| 15 | g.27955179A>G | CA488959912 | OCA2 | c.1821T>C (p.Asn607=) c.1749T>C (p.Asn583=) c.1845T>C (p.Asn615=) c.1773T>C (p.Asn591=) c.1707T>C (p.Asn569=) c.1650T>C (p.Asn550=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.27955179A>T | CA391365175 | OCA2 | c.1821T>A (p.Asn607Lys) c.1749T>A (p.Asn583Lys) c.1845T>A (p.Asn615Lys) c.1773T>A (p.Asn591Lys) c.1707T>A (p.Asn569Lys) c.1650T>A (p.Asn550Lys) | |
| 15 | g.27955180T>A | CA391365176 | OCA2 | c.1820A>T (p.Asn607Ile) c.1748A>T (p.Asn583Ile) c.1844A>T (p.Asn615Ile) c.1772A>T (p.Asn591Ile) c.1706A>T (p.Asn569Ile) c.1649A>T (p.Asn550Ile) | |
| 15 | g.27955180T>C | CA391365177 | OCA2 | c.1820A>G (p.Asn607Ser) c.1748A>G (p.Asn583Ser) c.1844A>G (p.Asn615Ser) c.1772A>G (p.Asn591Ser) c.1706A>G (p.Asn569Ser) c.1649A>G (p.Asn550Ser) | dbSNP gnomAD v4 |
| 15 | g.27955180T>G | CA391365178 | OCA2 | c.1820A>C (p.Asn607Thr) c.1748A>C (p.Asn583Thr) c.1844A>C (p.Asn615Thr) c.1772A>C (p.Asn591Thr) c.1706A>C (p.Asn569Thr) c.1649A>C (p.Asn550Thr) | |
| 15 | g.27955180T= | CA2166399798 | OCA2 | c.1820A= (p.Asn607=) c.1748A= (p.Asn583=) c.1844A= (p.Asn615=) c.1772A= (p.Asn591=) c.1706A= (p.Asn569=) c.1649A= (p.Asn550=) | |
| 15 | g.27955181T>A | CA391365179 | OCA2 | c.1819A>T (p.Asn607Tyr) c.1747A>T (p.Asn583Tyr) c.1843A>T (p.Asn615Tyr) c.1771A>T (p.Asn591Tyr) c.1705A>T (p.Asn569Tyr) c.1648A>T (p.Asn550Tyr) |