| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.55954295A= | CA2038177587 | PMEL | c.1905T= (p.Ser635=) c.1926T= (p.Ser642=) n.484T= c.792T= (p.Ser264=) c.1647T= (p.Ser549=) c.1800T= (p.Ser600=) c.1779T= (p.Ser593=) | |
| 12 | g.55954295A>C | CA385214731 | PMEL | c.1905T>G (p.Ser635Arg) c.1926T>G (p.Ser642Arg) n.484T>G c.792T>G (p.Ser264Arg) c.1647T>G (p.Ser549Arg) c.1800T>G (p.Ser600Arg) c.1779T>G (p.Ser593Arg) | |
| 12 | g.55954295A>G | CA6619815 | PMEL | c.1905T>C (p.Ser635=) c.1926T>C (p.Ser642=) n.484T>C c.792T>C (p.Ser264=) c.1647T>C (p.Ser549=) c.1800T>C (p.Ser600=) c.1779T>C (p.Ser593=) | dbSNP ExAC gnomAD v4 |
| 12 | g.55954295A>T | CA385214732 | PMEL | c.1905T>A (p.Ser635Arg) c.1926T>A (p.Ser642Arg) n.484T>A c.792T>A (p.Ser264Arg) c.1647T>A (p.Ser549Arg) c.1800T>A (p.Ser600Arg) c.1779T>A (p.Ser593Arg) | |
| 12 | g.55954295_55954301delinsACTGCTG | CA2038177589 | PMEL | c.1899_1905delinsCAGCAGT (p.Ser633=) c.1920_1926delinsCAGCAGT (p.Ser640=) n.478_484delinsCAGCAGT c.786_792delinsCAGCAGT (p.Ser262=) c.1641_1647delinsCAGCAGT (p.Ser547=) c.1794_1800delinsCAGCAGT (p.Ser598=) c.1773_1779delinsCAGCAGT (p.Ser591=) | |
| 12 | g.55954296C>A | CA385214733 | PMEL | c.1904G>T (p.Ser635Ile) c.1925G>T (p.Ser642Ile) n.483G>T c.791G>T (p.Ser264Ile) c.1646G>T (p.Ser549Ile) c.1799G>T (p.Ser600Ile) c.1778G>T (p.Ser593Ile) | |
| 12 | g.55954296C>G | CA385214734 | PMEL | c.1904G>C (p.Ser635Thr) c.1925G>C (p.Ser642Thr) n.483G>C c.791G>C (p.Ser264Thr) c.1646G>C (p.Ser549Thr) c.1799G>C (p.Ser600Thr) c.1778G>C (p.Ser593Thr) | |
| 12 | g.55954296C>T | CA385214735 | PMEL | c.1904G>A (p.Ser635Asn) c.1925G>A (p.Ser642Asn) n.483G>A c.791G>A (p.Ser264Asn) c.1646G>A (p.Ser549Asn) c.1799G>A (p.Ser600Asn) c.1778G>A (p.Ser593Asn) | gnomAD v4 |
| 12 | g.55954301_55954303del | CA6619814 | PMEL | c.1902_1904del (p.Ser635del) c.1923_1925del (p.Ser642del) n.481_483del c.789_791del (p.Ser264del) c.1644_1646del (p.Ser549del) c.1797_1799del (p.Ser600del) c.1776_1778del (p.Ser593del) | dbSNP ExAC gnomAD v2 |
| 12 | g.55954298_55954303del | CA6619813 | PMEL | c.1899_1904del (p.Ser634_Ser635del) c.1920_1925del (p.Ser641_Ser642del) n.478_483del c.786_791del (p.Ser263_Ser264del) c.1641_1646del (p.Ser548_Ser549del) c.1794_1799del (p.Ser599_Ser600del) c.1773_1778del (p.Ser592_Ser593del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.55954297T>A | CA385214736 | PMEL | c.1903A>T (p.Ser635Cys) c.1924A>T (p.Ser642Cys) n.482A>T c.790A>T (p.Ser264Cys) c.1645A>T (p.Ser549Cys) c.1798A>T (p.Ser600Cys) c.1777A>T (p.Ser593Cys) | |
| 12 | g.55954297T>C | CA385214737 | PMEL | c.1903A>G (p.Ser635Gly) c.1924A>G (p.Ser642Gly) n.482A>G c.790A>G (p.Ser264Gly) c.1645A>G (p.Ser549Gly) c.1798A>G (p.Ser600Gly) c.1777A>G (p.Ser593Gly) | |
| 12 | g.55954297T>G | CA385214738 | PMEL | c.1903A>C (p.Ser635Arg) c.1924A>C (p.Ser642Arg) n.482A>C c.790A>C (p.Ser264Arg) c.1645A>C (p.Ser549Arg) c.1798A>C (p.Ser600Arg) c.1777A>C (p.Ser593Arg) | |
| 12 | g.55954298G>A | CA480178472 | PMEL | c.1902C>T (p.Ser634=) c.1923C>T (p.Ser641=) n.481C>T c.789C>T (p.Ser263=) c.1644C>T (p.Ser548=) c.1797C>T (p.Ser599=) c.1776C>T (p.Ser592=) | |
| 12 | g.55954298G>C | CA385214739 | PMEL | c.1902C>G (p.Ser634Arg) c.1923C>G (p.Ser641Arg) n.481C>G c.789C>G (p.Ser263Arg) c.1644C>G (p.Ser548Arg) c.1797C>G (p.Ser599Arg) c.1776C>G (p.Ser592Arg) | |
| 12 | g.55954298G>T | CA385214740 | PMEL | c.1902C>A (p.Ser634Arg) c.1923C>A (p.Ser641Arg) n.481C>A c.789C>A (p.Ser263Arg) c.1644C>A (p.Ser548Arg) c.1797C>A (p.Ser599Arg) c.1776C>A (p.Ser592Arg) | |
| 12 | g.55954299C>A | CA385214743 | PMEL | c.1901G>T (p.Ser634Ile) c.1922G>T (p.Ser641Ile) n.480G>T c.788G>T (p.Ser263Ile) c.1643G>T (p.Ser548Ile) c.1796G>T (p.Ser599Ile) c.1775G>T (p.Ser592Ile) | |
| 12 | g.55954299C>G | CA385214742 | PMEL | c.1901G>C (p.Ser634Thr) c.1922G>C (p.Ser641Thr) n.480G>C c.788G>C (p.Ser263Thr) c.1643G>C (p.Ser548Thr) c.1796G>C (p.Ser599Thr) c.1775G>C (p.Ser592Thr) | |
| 12 | g.55954299C>T | CA385214741 | PMEL | c.1901G>A (p.Ser634Asn) c.1922G>A (p.Ser641Asn) n.480G>A c.788G>A (p.Ser263Asn) c.1643G>A (p.Ser548Asn) c.1796G>A (p.Ser599Asn) c.1775G>A (p.Ser592Asn) | |
| 12 | g.55954300T>A | CA385214744 | PMEL | c.1900A>T (p.Ser634Cys) c.1921A>T (p.Ser641Cys) n.479A>T c.787A>T (p.Ser263Cys) c.1642A>T (p.Ser548Cys) c.1795A>T (p.Ser599Cys) c.1774A>T (p.Ser592Cys) | |
| 12 | g.55954300T>C | CA385214746 | PMEL | c.1900A>G (p.Ser634Gly) c.1921A>G (p.Ser641Gly) n.479A>G c.787A>G (p.Ser263Gly) c.1642A>G (p.Ser548Gly) c.1795A>G (p.Ser599Gly) c.1774A>G (p.Ser592Gly) | dbSNP |
| 12 | g.55954300T>G | CA385214745 | PMEL | c.1900A>C (p.Ser634Arg) c.1921A>C (p.Ser641Arg) n.479A>C c.787A>C (p.Ser263Arg) c.1642A>C (p.Ser548Arg) c.1795A>C (p.Ser599Arg) c.1774A>C (p.Ser592Arg) | |
| 12 | g.55954300T= | CA2038177601 | PMEL | c.1900A= (p.Ser634=) c.1921A= (p.Ser641=) n.479A= c.787A= (p.Ser263=) c.1642A= (p.Ser548=) c.1795A= (p.Ser599=) c.1774A= (p.Ser592=) | |
| 12 | g.55954301G>A | CA480178482 | PMEL | c.1899C>T (p.Ser633=) c.1920C>T (p.Ser640=) n.478C>T c.786C>T (p.Ser262=) c.1641C>T (p.Ser547=) c.1794C>T (p.Ser598=) c.1773C>T (p.Ser591=) | |
| 12 | g.55954301G>C | CA385214747 | PMEL | c.1899C>G (p.Ser633Arg) c.1920C>G (p.Ser640Arg) n.478C>G c.786C>G (p.Ser262Arg) c.1641C>G (p.Ser547Arg) c.1794C>G (p.Ser598Arg) c.1773C>G (p.Ser591Arg) | |
| 12 | g.55954301G>T | CA385214748 | PMEL | c.1899C>A (p.Ser633Arg) c.1920C>A (p.Ser640Arg) n.478C>A c.786C>A (p.Ser262Arg) c.1641C>A (p.Ser547Arg) c.1794C>A (p.Ser598Arg) c.1773C>A (p.Ser591Arg) | |
| 12 | g.55954302C>A | CA385214749 | PMEL | c.1898G>T (p.Ser633Ile) c.1919G>T (p.Ser640Ile) n.477G>T c.785G>T (p.Ser262Ile) c.1640G>T (p.Ser547Ile) c.1793G>T (p.Ser598Ile) c.1772G>T (p.Ser591Ile) | |
| 12 | g.55954302C= | CA2038177606 | PMEL | c.1898G= (p.Ser633=) c.1919G= (p.Ser640=) n.477G= c.785G= (p.Ser262=) c.1640G= (p.Ser547=) c.1793G= (p.Ser598=) c.1772G= (p.Ser591=) | |
| 12 | g.55954302C>G | CA385214751 | PMEL | c.1898G>C (p.Ser633Thr) c.1919G>C (p.Ser640Thr) n.477G>C c.785G>C (p.Ser262Thr) c.1640G>C (p.Ser547Thr) c.1793G>C (p.Ser598Thr) c.1772G>C (p.Ser591Thr) | |
| 12 | g.55954302C>T | CA385214750 | PMEL | c.1898G>A (p.Ser633Asn) c.1919G>A (p.Ser640Asn) n.477G>A c.785G>A (p.Ser262Asn) c.1640G>A (p.Ser547Asn) c.1793G>A (p.Ser598Asn) c.1772G>A (p.Ser591Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954302_55954304delinsCTA | CA2038177604 | PMEL | c.1896_1898delinsTAG (p.His632=) c.1917_1919delinsTAG (p.His639=) n.475_477delinsTAG c.783_785delinsTAG (p.His261=) c.1638_1640delinsTAG (p.His546=) c.1791_1793delinsTAG (p.His597=) c.1770_1772delinsTAG (p.His590=) | |
| 12 | g.55954303T>A | CA385214752 | PMEL | c.1897A>T (p.Ser633Cys) c.1918A>T (p.Ser640Cys) n.476A>T c.784A>T (p.Ser262Cys) c.1639A>T (p.Ser547Cys) c.1792A>T (p.Ser598Cys) c.1771A>T (p.Ser591Cys) | |
| 12 | g.55954303T>C | CA385214754 | PMEL | c.1897A>G (p.Ser633Gly) c.1918A>G (p.Ser640Gly) n.476A>G c.784A>G (p.Ser262Gly) c.1639A>G (p.Ser547Gly) c.1792A>G (p.Ser598Gly) c.1771A>G (p.Ser591Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.55954303T>G | CA385214753 | PMEL | c.1897A>C (p.Ser633Arg) c.1918A>C (p.Ser640Arg) n.476A>C c.784A>C (p.Ser262Arg) c.1639A>C (p.Ser547Arg) c.1792A>C (p.Ser598Arg) c.1771A>C (p.Ser591Arg) | |
| 12 | g.55954303T= | CA2038177609 | PMEL | c.1897A= (p.Ser633=) c.1918A= (p.Ser640=) n.476A= c.784A= (p.Ser262=) c.1639A= (p.Ser547=) c.1792A= (p.Ser598=) c.1771A= (p.Ser591=) | |
| 12 | g.55954304_55954305del | CA605248680 | PMEL | c.1896_1897del (p.His632GlnfsTer19) c.1917_1918del (p.His639GlnfsTer19) n.475_476del c.783_784del (p.His261GlnfsTer19) c.1638_1639del (p.His546GlnfsTer19) c.1791_1792del (p.His597GlnfsTer19) c.1770_1771del (p.His590GlnfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.55954304A>C | CA385214755 | PMEL | c.1896T>G (p.His632Gln) c.1917T>G (p.His639Gln) n.475T>G c.783T>G (p.His261Gln) c.1638T>G (p.His546Gln) c.1791T>G (p.His597Gln) c.1770T>G (p.His590Gln) | |
| 12 | g.55954304A>G | CA480178493 | PMEL | c.1896T>C (p.His632=) c.1917T>C (p.His639=) n.475T>C c.783T>C (p.His261=) c.1638T>C (p.His546=) c.1791T>C (p.His597=) c.1770T>C (p.His590=) | gnomAD v4 |
| 12 | g.55954304A>T | CA385214756 | PMEL | c.1896T>A (p.His632Gln) c.1917T>A (p.His639Gln) n.475T>A c.783T>A (p.His261Gln) c.1638T>A (p.His546Gln) c.1791T>A (p.His597Gln) c.1770T>A (p.His590Gln) | |
| 12 | g.55954305T>A | CA385214757 | PMEL | c.1895A>T (p.His632Leu) c.1916A>T (p.His639Leu) n.474A>T c.782A>T (p.His261Leu) c.1637A>T (p.His546Leu) c.1790A>T (p.His597Leu) c.1769A>T (p.His590Leu) | |
| 12 | g.55954305T>C | CA385214759 | PMEL | c.1895A>G (p.His632Arg) c.1916A>G (p.His639Arg) n.474A>G c.782A>G (p.His261Arg) c.1637A>G (p.His546Arg) c.1790A>G (p.His597Arg) c.1769A>G (p.His590Arg) | gnomAD v4 |
| 12 | g.55954305T>G | CA385214758 | PMEL | c.1895A>C (p.His632Pro) c.1916A>C (p.His639Pro) n.474A>C c.782A>C (p.His261Pro) c.1637A>C (p.His546Pro) c.1790A>C (p.His597Pro) c.1769A>C (p.His590Pro) | |
| 12 | g.55954306G>A | CA385214760 | PMEL | c.1894C>T (p.His632Tyr) c.1915C>T (p.His639Tyr) n.473C>T c.781C>T (p.His261Tyr) c.1636C>T (p.His546Tyr) c.1789C>T (p.His597Tyr) c.1768C>T (p.His590Tyr) | |
| 12 | g.55954306G>C | CA385214761 | PMEL | c.1894C>G (p.His632Asp) c.1915C>G (p.His639Asp) n.473C>G c.781C>G (p.His261Asp) c.1636C>G (p.His546Asp) c.1789C>G (p.His597Asp) c.1768C>G (p.His590Asp) | |
| 12 | g.55954306G>T | CA385214762 | PMEL | c.1894C>A (p.His632Asn) c.1915C>A (p.His639Asn) n.473C>A c.781C>A (p.His261Asn) c.1636C>A (p.His546Asn) c.1789C>A (p.His597Asn) c.1768C>A (p.His590Asn) | |
| 12 | g.55954307T>A | CA480178502 | PMEL | c.1893A>T (p.Pro631=) c.1914A>T (p.Pro638=) n.472A>T c.780A>T (p.Pro260=) c.1635A>T (p.Pro545=) c.1788A>T (p.Pro596=) c.1767A>T (p.Pro589=) | |
| 12 | g.55954307T>C | CA480178503 | PMEL | c.1893A>G (p.Pro631=) c.1914A>G (p.Pro638=) n.472A>G c.780A>G (p.Pro260=) c.1635A>G (p.Pro545=) c.1788A>G (p.Pro596=) c.1767A>G (p.Pro589=) | |
| 12 | g.55954307T>G | CA480178504 | PMEL | c.1893A>C (p.Pro631=) c.1914A>C (p.Pro638=) n.472A>C c.780A>C (p.Pro260=) c.1635A>C (p.Pro545=) c.1788A>C (p.Pro596=) c.1767A>C (p.Pro589=) | |
| 12 | g.55954308G>A | CA385214763 | PMEL | c.1892C>T (p.Pro631Leu) c.1913C>T (p.Pro638Leu) n.471C>T c.779C>T (p.Pro260Leu) c.1634C>T (p.Pro545Leu) c.1787C>T (p.Pro596Leu) c.1766C>T (p.Pro589Leu) | gnomAD v4 |
| 12 | g.55954308G>C | CA6619816 | PMEL | c.1892C>G (p.Pro631Arg) c.1913C>G (p.Pro638Arg) n.471C>G c.779C>G (p.Pro260Arg) c.1634C>G (p.Pro545Arg) c.1787C>G (p.Pro596Arg) c.1766C>G (p.Pro589Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |