Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27955157C>A | CA251632 | OCA2 | c.1842+1G>T (n.1842+1G>T) c.1770+1G>T (n.1770+1G>T) c.1866+1G>T (n.1866+1G>T) c.1794+1G>T (n.1794+1G>T) c.1728+1G>T (n.1728+1G>T) c.1865+2G>T (n.1865+2G>T) c.1671+1G>T (n.1671+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27955157C= | CA2166399768 | OCA2 | c.1842+1G= (n.1842+1G=) c.1770+1G= (n.1770+1G=) c.1866+1G= (n.1866+1G=) c.1794+1G= (n.1794+1G=) c.1728+1G= (n.1728+1G=) c.1865+2G= (n.1865+2G=) c.1671+1G= (n.1671+1G=) | |
15 | g.27955157C>G | CA391365123 | OCA2 | c.1842+1G>C (n.1842+1G>C) c.1770+1G>C (n.1770+1G>C) c.1866+1G>C (n.1866+1G>C) c.1794+1G>C (n.1794+1G>C) c.1728+1G>C (n.1728+1G>C) c.1865+2G>C (n.1865+2G>C) c.1671+1G>C (n.1671+1G>C) | |
15 | g.27955157C>T | CA391365124 | OCA2 | c.1842+1G>A (n.1842+1G>A) c.1770+1G>A (n.1770+1G>A) c.1866+1G>A (n.1866+1G>A) c.1794+1G>A (n.1794+1G>A) c.1728+1G>A (n.1728+1G>A) c.1865+2G>A (n.1865+2G>A) c.1671+1G>A (n.1671+1G>A) | dbSNP gnomAD v4 |
15 | g.27955158C>A | CA391365125 | OCA2 | c.1842G>T (p.Lys614Asn) c.1770G>T (p.Lys590Asn) c.1866G>T (p.Lys622Asn) c.1794G>T (p.Lys598Asn) c.1728G>T (p.Lys576Asn) c.1865+1G>T (n.1865+1G>T) c.1671G>T (p.Lys557Asn) | gnomAD v4 |
15 | g.27955158C= | CA2166399773 | OCA2 | c.1842G= (p.Lys614=) c.1770G= (p.Lys590=) c.1866G= (p.Lys622=) c.1794G= (p.Lys598=) c.1728G= (p.Lys576=) c.1865+1G= (n.1865+1G=) c.1671G= (p.Lys557=) | |
15 | g.27955158C>G | CA391365126 | OCA2 | c.1842G>C (p.Lys614Asn) c.1770G>C (p.Lys590Asn) c.1866G>C (p.Lys622Asn) c.1794G>C (p.Lys598Asn) c.1728G>C (p.Lys576Asn) c.1865+1G>C (n.1865+1G>C) c.1671G>C (p.Lys557Asn) | gnomAD v4 |
15 | g.27955158C>T | CA267882377 | OCA2 | c.1842G>A (p.Lys614=) c.1770G>A (p.Lys590=) c.1866G>A (p.Lys622=) c.1794G>A (p.Lys598=) c.1728G>A (p.Lys576=) c.1865+1G>A (n.1865+1G>A) c.1671G>A (p.Lys557=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27955158_27955159delinsCT | CA2166399772 | OCA2 | c.1841_1842delinsAG (p.Lys614=) c.1769_1770delinsAG (p.Lys590=) c.1865_1866delinsAG (p.Lys622=) c.1793_1794delinsAG (p.Lys598=) c.1727_1728delinsAG (p.Lys576=) c.1865_1865+1delinsAG c.1670_1671delinsAG (p.Lys557=) | |
15 | g.27955159T>A | CA391365127 | OCA2 | c.1841A>T (p.Lys614Met) c.1769A>T (p.Lys590Met) c.1865A>T (p.Lys622Met) c.1793A>T (p.Lys598Met) c.1727A>T (p.Lys576Met) c.1865A>T (p.Lys622Ile) c.1670A>T (p.Lys557Met) | |
15 | g.27955159T>C | CA7438891 | OCA2 | c.1841A>G (p.Lys614Arg) c.1769A>G (p.Lys590Arg) c.1865A>G (p.Lys622Arg) c.1793A>G (p.Lys598Arg) c.1727A>G (p.Lys576Arg) c.1670A>G (p.Lys557Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27955159T>G | CA391365128 | OCA2 | c.1841A>C (p.Lys614Thr) c.1769A>C (p.Lys590Thr) c.1865A>C (p.Lys622Thr) c.1793A>C (p.Lys598Thr) c.1727A>C (p.Lys576Thr) c.1670A>C (p.Lys557Thr) | |
15 | g.27955159T= | CA2166399781 | OCA2 | c.1841A= (p.Lys614=) c.1769A= (p.Lys590=) c.1865A= (p.Lys622=) c.1793A= (p.Lys598=) c.1727A= (p.Lys576=) c.1670A= (p.Lys557=) | |
15 | g.27955165dup | CA616709123 | OCA2 | c.1841dup (p.His615AlafsTer2) c.1769dup (p.His591AlafsTer2) c.1865dup (p.His623AlafsTer2) c.1793dup (p.His599AlafsTer2) c.1727dup (p.His577AlafsTer2) c.1865dup (p.Ala623SerfsTer14) c.1670dup (p.His558AlafsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27955165del | CA488959888 | OCA2 | c.1841del (p.Lys614SerfsTer14) c.1769del (p.Lys590SerfsTer14) c.1865del (p.Lys622SerfsTer14) c.1793del (p.Lys598SerfsTer14) c.1727del (p.Lys576SerfsTer14) c.1865del (p.Ala623HisfsTer?) c.1670del (p.Lys557SerfsTer14) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.27955160T>A | CA391365129 | OCA2 | c.1840A>T (p.Lys614Ter) c.1768A>T (p.Lys590Ter) c.1864A>T (p.Lys622Ter) c.1792A>T (p.Lys598Ter) c.1726A>T (p.Lys576Ter) c.1669A>T (p.Lys557Ter) | |
15 | g.27955160T>C | CA391365130 | OCA2 | c.1840A>G (p.Lys614Glu) c.1768A>G (p.Lys590Glu) c.1864A>G (p.Lys622Glu) c.1792A>G (p.Lys598Glu) c.1726A>G (p.Lys576Glu) c.1669A>G (p.Lys557Glu) | gnomAD v4 |
15 | g.27955160T>G | CA391365131 | OCA2 | c.1840A>C (p.Lys614Gln) c.1768A>C (p.Lys590Gln) c.1864A>C (p.Lys622Gln) c.1792A>C (p.Lys598Gln) c.1726A>C (p.Lys576Gln) c.1669A>C (p.Lys557Gln) | |
15 | g.27955161T>A | CA391365132 | OCA2 | c.1839A>T (p.Lys613Asn) c.1767A>T (p.Lys589Asn) c.1863A>T (p.Lys621Asn) c.1791A>T (p.Lys597Asn) c.1725A>T (p.Lys575Asn) c.1668A>T (p.Lys556Asn) | |
15 | g.27955161T>C | CA488959890 | OCA2 | c.1839A>G (p.Lys613=) c.1767A>G (p.Lys589=) c.1863A>G (p.Lys621=) c.1791A>G (p.Lys597=) c.1725A>G (p.Lys575=) c.1668A>G (p.Lys556=) | |
15 | g.27955161T>G | CA391365133 | OCA2 | c.1839A>C (p.Lys613Asn) c.1767A>C (p.Lys589Asn) c.1863A>C (p.Lys621Asn) c.1791A>C (p.Lys597Asn) c.1725A>C (p.Lys575Asn) c.1668A>C (p.Lys556Asn) | COSMIC |
15 | g.27955162T>A | CA391365135 | OCA2 | c.1838A>T (p.Lys613Ile) c.1766A>T (p.Lys589Ile) c.1862A>T (p.Lys621Ile) c.1790A>T (p.Lys597Ile) c.1724A>T (p.Lys575Ile) c.1667A>T (p.Lys556Ile) | |
15 | g.27955162T>C | CA7438892 | OCA2 | c.1838A>G (p.Lys613Arg) c.1766A>G (p.Lys589Arg) c.1862A>G (p.Lys621Arg) c.1790A>G (p.Lys597Arg) c.1724A>G (p.Lys575Arg) c.1667A>G (p.Lys556Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27955162T>G | CA391365134 | OCA2 | c.1838A>C (p.Lys613Thr) c.1766A>C (p.Lys589Thr) c.1862A>C (p.Lys621Thr) c.1790A>C (p.Lys597Thr) c.1724A>C (p.Lys575Thr) c.1667A>C (p.Lys556Thr) | |
15 | g.27955162T= | CA2166399784 | OCA2 | c.1838A= (p.Lys613=) c.1766A= (p.Lys589=) c.1862A= (p.Lys621=) c.1790A= (p.Lys597=) c.1724A= (p.Lys575=) c.1667A= (p.Lys556=) | |
15 | g.27955163T>A | CA391365136 | OCA2 | c.1837A>T (p.Lys613Ter) c.1765A>T (p.Lys589Ter) c.1861A>T (p.Lys621Ter) c.1789A>T (p.Lys597Ter) c.1723A>T (p.Lys575Ter) c.1666A>T (p.Lys556Ter) | |
15 | g.27955163T>C | CA391365137 | OCA2 | c.1837A>G (p.Lys613Glu) c.1765A>G (p.Lys589Glu) c.1861A>G (p.Lys621Glu) c.1789A>G (p.Lys597Glu) c.1723A>G (p.Lys575Glu) c.1666A>G (p.Lys556Glu) | |
15 | g.27955163T>G | CA391365138 | OCA2 | c.1837A>C (p.Lys613Gln) c.1765A>C (p.Lys589Gln) c.1861A>C (p.Lys621Gln) c.1789A>C (p.Lys597Gln) c.1723A>C (p.Lys575Gln) c.1666A>C (p.Lys556Gln) | |
15 | g.27955164T>A | CA391365139 | OCA2 | c.1836A>T (p.Gln612His) c.1764A>T (p.Gln588His) c.1860A>T (p.Gln620His) c.1788A>T (p.Gln596His) c.1722A>T (p.Gln574His) c.1665A>T (p.Gln555His) | |
15 | g.27955164T>C | CA488959893 | OCA2 | c.1836A>G (p.Gln612=) c.1764A>G (p.Gln588=) c.1860A>G (p.Gln620=) c.1788A>G (p.Gln596=) c.1722A>G (p.Gln574=) c.1665A>G (p.Gln555=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.27955164T>G | CA391365140 | OCA2 | c.1836A>C (p.Gln612His) c.1764A>C (p.Gln588His) c.1860A>C (p.Gln620His) c.1788A>C (p.Gln596His) c.1722A>C (p.Gln574His) c.1665A>C (p.Gln555His) | |
15 | g.27955164T= | CA2166399787 | OCA2 | c.1836A= (p.Gln612=) c.1764A= (p.Gln588=) c.1860A= (p.Gln620=) c.1788A= (p.Gln596=) c.1722A= (p.Gln574=) c.1665A= (p.Gln555=) | |
15 | g.27955165T>A | CA391365141 | OCA2 | c.1835A>T (p.Gln612Leu) c.1763A>T (p.Gln588Leu) c.1859A>T (p.Gln620Leu) c.1787A>T (p.Gln596Leu) c.1721A>T (p.Gln574Leu) c.1664A>T (p.Gln555Leu) | |
15 | g.27955165T>C | CA391365142 | OCA2 | c.1835A>G (p.Gln612Arg) c.1763A>G (p.Gln588Arg) c.1859A>G (p.Gln620Arg) c.1787A>G (p.Gln596Arg) c.1721A>G (p.Gln574Arg) c.1664A>G (p.Gln555Arg) | |
15 | g.27955165T>G | CA391365143 | OCA2 | c.1835A>C (p.Gln612Pro) c.1763A>C (p.Gln588Pro) c.1859A>C (p.Gln620Pro) c.1787A>C (p.Gln596Pro) c.1721A>C (p.Gln574Pro) c.1664A>C (p.Gln555Pro) | |
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) | |
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=) | 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) | 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) |