Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55954301_55954303delCA6619814PMELc.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
12g.55954298_55954303delCA6619813PMELc.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
12g.55954302C>ACA385214749PMELc.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)
12g.55954302C=CA2038177606PMELc.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=)
12g.55954302C>GCA385214751PMELc.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)
12g.55954302C>TCA385214750PMELc.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
12g.55954302_55954304delinsCTACA2038177604PMELc.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=)
12g.55954303T>ACA385214752PMELc.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)
12g.55954303T>CCA385214754PMELc.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
12g.55954303T>GCA385214753PMELc.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)
12g.55954303T=CA2038177609PMELc.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=)
12g.55954304_55954305delCA605248680PMELc.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
12g.55954304A>CCA385214755PMELc.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)
12g.55954304A>GCA480178493PMELc.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
12g.55954304A>TCA385214756PMELc.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)
12g.55954305T>ACA385214757PMELc.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)
12g.55954305T>CCA385214759PMELc.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
12g.55954305T>GCA385214758PMELc.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)
12g.55954306G>ACA385214760PMELc.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)
12g.55954306G>CCA385214761PMELc.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)
12g.55954306G>TCA385214762PMELc.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)
12g.55954307T>ACA480178502PMELc.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=)
12g.55954307T>CCA480178503PMELc.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=)
12g.55954307T>GCA480178504PMELc.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=)
12g.55954308G>ACA385214763PMELc.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
12g.55954308G>CCA6619816PMELc.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
12g.55954308G=CA2038177613PMELc.1892C= (p.Pro631=)
c.1913C= (p.Pro638=)
n.471C=
c.779C= (p.Pro260=)
c.1634C= (p.Pro545=)
c.1787C= (p.Pro596=)
c.1766C= (p.Pro589=)
12g.55954308G>TCA385214764PMELc.1892C>A (p.Pro631Gln)
c.1913C>A (p.Pro638Gln)
n.471C>A
c.779C>A (p.Pro260Gln)
c.1634C>A (p.Pro545Gln)
c.1787C>A (p.Pro596Gln)
c.1766C>A (p.Pro589Gln)
12g.55954309G>ACA6619817PMELc.1891C>T (p.Pro631Ser)
c.1912C>T (p.Pro638Ser)
n.470C>T
c.778C>T (p.Pro260Ser)
c.1633C>T (p.Pro545Ser)
c.1786C>T (p.Pro596Ser)
c.1765C>T (p.Pro589Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55954309G>CCA385214765PMELc.1891C>G (p.Pro631Ala)
c.1912C>G (p.Pro638Ala)
n.470C>G
c.778C>G (p.Pro260Ala)
c.1633C>G (p.Pro545Ala)
c.1786C>G (p.Pro596Ala)
c.1765C>G (p.Pro589Ala)
12g.55954309G=CA2038177617PMELc.1891C= (p.Pro631=)
c.1912C= (p.Pro638=)
n.470C=
c.778C= (p.Pro260=)
c.1633C= (p.Pro545=)
c.1786C= (p.Pro596=)
c.1765C= (p.Pro589=)
12g.55954309G>TCA385214766PMELc.1891C>A (p.Pro631Thr)
c.1912C>A (p.Pro638Thr)
n.470C>A
c.778C>A (p.Pro260Thr)
c.1633C>A (p.Pro545Thr)
c.1786C>A (p.Pro596Thr)
c.1765C>A (p.Pro589Thr)
12g.55954310C>ACA385214767PMELc.1890G>T (p.Leu630Phe)
c.1911G>T (p.Leu637Phe)
n.469G>T
c.777G>T (p.Leu259Phe)
c.1632G>T (p.Leu544Phe)
c.1785G>T (p.Leu595Phe)
c.1764G>T (p.Leu588Phe)
12g.55954310C>GCA385214768PMELc.1890G>C (p.Leu630Phe)
c.1911G>C (p.Leu637Phe)
n.469G>C
c.777G>C (p.Leu259Phe)
c.1632G>C (p.Leu544Phe)
c.1785G>C (p.Leu595Phe)
c.1764G>C (p.Leu588Phe)
12g.55954310C>TCA480178511PMELc.1890G>A (p.Leu630=)
c.1911G>A (p.Leu637=)
n.469G>A
c.777G>A (p.Leu259=)
c.1632G>A (p.Leu544=)
c.1785G>A (p.Leu595=)
c.1764G>A (p.Leu588=)
 COSMIC COSMIC
12g.55954311A>CCA385214771PMELc.1889T>G (p.Leu630Trp)
c.1910T>G (p.Leu637Trp)
n.468T>G
c.776T>G (p.Leu259Trp)
c.1631T>G (p.Leu544Trp)
c.1784T>G (p.Leu595Trp)
c.1763T>G (p.Leu588Trp)
12g.55954311A>GCA385214769PMELc.1889T>C (p.Leu630Ser)
c.1910T>C (p.Leu637Ser)
n.468T>C
c.776T>C (p.Leu259Ser)
c.1631T>C (p.Leu544Ser)
c.1784T>C (p.Leu595Ser)
c.1763T>C (p.Leu588Ser)
12g.55954311A>TCA385214770PMELc.1889T>A (p.Leu630Ter)
c.1910T>A (p.Leu637Ter)
n.468T>A
c.776T>A (p.Leu259Ter)
c.1631T>A (p.Leu544Ter)
c.1784T>A (p.Leu595Ter)
c.1763T>A (p.Leu588Ter)
12g.55954312A>CCA385214772PMELc.1888T>G (p.Leu630Val)
c.1909T>G (p.Leu637Val)
n.467T>G
c.775T>G (p.Leu259Val)
c.1630T>G (p.Leu544Val)
c.1783T>G (p.Leu595Val)
c.1762T>G (p.Leu588Val)
12g.55954312A>GCA480178516PMELc.1888T>C (p.Leu630=)
c.1909T>C (p.Leu637=)
n.467T>C
c.775T>C (p.Leu259=)
c.1630T>C (p.Leu544=)
c.1783T>C (p.Leu595=)
c.1762T>C (p.Leu588=)
12g.55954312A>TCA385214773PMELc.1888T>A (p.Leu630Met)
c.1909T>A (p.Leu637Met)
n.467T>A
c.775T>A (p.Leu259Met)
c.1630T>A (p.Leu544Met)
c.1783T>A (p.Leu595Met)
c.1762T>A (p.Leu588Met)
12g.55954313C>ACA385214774PMELc.1887G>T (p.Gln629His)
c.1908G>T (p.Gln636His)
n.466G>T
c.774G>T (p.Gln258His)
c.1629G>T (p.Gln543His)
c.1782G>T (p.Gln594His)
c.1761G>T (p.Gln587His)
12g.55954313C=CA2038177624PMELc.1887G= (p.Gln629=)
c.1908G= (p.Gln636=)
n.466G=
c.774G= (p.Gln258=)
c.1629G= (p.Gln543=)
c.1782G= (p.Gln594=)
c.1761G= (p.Gln587=)
12g.55954313C>GCA385214775PMELc.1887G>C (p.Gln629His)
c.1908G>C (p.Gln636His)
n.466G>C
c.774G>C (p.Gln258His)
c.1629G>C (p.Gln543His)
c.1782G>C (p.Gln594His)
c.1761G>C (p.Gln587His)
 dbSNP gnomAD v2 gnomAD v4
12g.55954313C>TCA480178519PMELc.1887G>A (p.Gln629=)
c.1908G>A (p.Gln636=)
n.466G>A
c.774G>A (p.Gln258=)
c.1629G>A (p.Gln543=)
c.1782G>A (p.Gln594=)
c.1761G>A (p.Gln587=)
 gnomAD v4
12g.55954314T>ACA385214776PMELc.1886A>T (p.Gln629Leu)
c.1907A>T (p.Gln636Leu)
n.465A>T
c.773A>T (p.Gln258Leu)
c.1628A>T (p.Gln543Leu)
c.1781A>T (p.Gln594Leu)
c.1760A>T (p.Gln587Leu)
12g.55954314T>CCA385214777PMELc.1886A>G (p.Gln629Arg)
c.1907A>G (p.Gln636Arg)
n.465A>G
c.773A>G (p.Gln258Arg)
c.1628A>G (p.Gln543Arg)
c.1781A>G (p.Gln594Arg)
c.1760A>G (p.Gln587Arg)
 gnomAD v4
12g.55954314T>GCA385214778PMELc.1886A>C (p.Gln629Pro)
c.1907A>C (p.Gln636Pro)
n.465A>C
c.773A>C (p.Gln258Pro)
c.1628A>C (p.Gln543Pro)
c.1781A>C (p.Gln594Pro)
c.1760A>C (p.Gln587Pro)
12g.55954315G>ACA385214779PMELc.1885C>T (p.Gln629Ter)
c.1906C>T (p.Gln636Ter)
n.464C>T
c.772C>T (p.Gln258Ter)
c.1627C>T (p.Gln543Ter)
c.1780C>T (p.Gln594Ter)
c.1759C>T (p.Gln587Ter)
12g.55954315G>CCA385214780PMELc.1885C>G (p.Gln629Glu)
c.1906C>G (p.Gln636Glu)
n.464C>G
c.772C>G (p.Gln258Glu)
c.1627C>G (p.Gln543Glu)
c.1780C>G (p.Gln594Glu)
c.1759C>G (p.Gln587Glu)
 gnomAD v4
12g.55954315G>TCA385214781PMELc.1885C>A (p.Gln629Lys)
c.1906C>A (p.Gln636Lys)
n.464C>A
c.772C>A (p.Gln258Lys)
c.1627C>A (p.Gln543Lys)
c.1780C>A (p.Gln594Lys)
c.1759C>A (p.Gln587Lys)
12g.55954316G>ACA480178528PMELc.1884C>T (p.Pro628=)
c.1905C>T (p.Pro635=)
n.463C>T
c.771C>T (p.Pro257=)
c.1626C>T (p.Pro542=)
c.1779C>T (p.Pro593=)
c.1758C>T (p.Pro586=)
12g.55954316G>CCA480178530PMELc.1884C>G (p.Pro628=)
c.1905C>G (p.Pro635=)
n.463C>G
c.771C>G (p.Pro257=)
c.1626C>G (p.Pro542=)
c.1779C>G (p.Pro593=)
c.1758C>G (p.Pro586=)
12g.55954316G>TCA480178531PMELc.1884C>A (p.Pro628=)
c.1905C>A (p.Pro635=)
n.463C>A
c.771C>A (p.Pro257=)
c.1626C>A (p.Pro542=)
c.1779C>A (p.Pro593=)
c.1758C>A (p.Pro586=)
12g.55954317G>ACA385214783PMELc.1883C>T (p.Pro628Leu)
c.1904C>T (p.Pro635Leu)
n.462C>T
c.770C>T (p.Pro257Leu)
c.1625C>T (p.Pro542Leu)
c.1778C>T (p.Pro593Leu)
c.1757C>T (p.Pro586Leu)
12g.55954317G>CCA385214784PMELc.1883C>G (p.Pro628Arg)
c.1904C>G (p.Pro635Arg)
n.462C>G
c.770C>G (p.Pro257Arg)
c.1625C>G (p.Pro542Arg)
c.1778C>G (p.Pro593Arg)
c.1757C>G (p.Pro586Arg)
12g.55954317G>TCA385214782PMELc.1883C>A (p.Pro628His)
c.1904C>A (p.Pro635His)
n.462C>A
c.770C>A (p.Pro257His)
c.1625C>A (p.Pro542His)
c.1778C>A (p.Pro593His)
c.1757C>A (p.Pro586His)
12g.55954318G>ACA385214785PMELc.1882C>T (p.Pro628Ser)
c.1903C>T (p.Pro635Ser)
n.461C>T
c.769C>T (p.Pro257Ser)
c.1624C>T (p.Pro542Ser)
c.1777C>T (p.Pro593Ser)
c.1756C>T (p.Pro586Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.55954318G>CCA385214786PMELc.1882C>G (p.Pro628Ala)
c.1903C>G (p.Pro635Ala)
n.461C>G
c.769C>G (p.Pro257Ala)
c.1624C>G (p.Pro542Ala)
c.1777C>G (p.Pro593Ala)
c.1756C>G (p.Pro586Ala)
12g.55954318G=CA2038177629PMELc.1882C= (p.Pro628=)
c.1903C= (p.Pro635=)
n.461C=
c.769C= (p.Pro257=)
c.1624C= (p.Pro542=)
c.1777C= (p.Pro593=)
c.1756C= (p.Pro586=)
12g.55954318G>TCA385214787PMELc.1882C>A (p.Pro628Thr)
c.1903C>A (p.Pro635Thr)
n.461C>A
c.769C>A (p.Pro257Thr)
c.1624C>A (p.Pro542Thr)
c.1777C>A (p.Pro593Thr)
c.1756C>A (p.Pro586Thr)
12g.55954319T>ACA480178540PMELc.1881A>T (p.Val627=)
c.1902A>T (p.Val634=)
n.460A>T
c.768A>T (p.Val256=)
c.1623A>T (p.Val541=)
c.1776A>T (p.Val592=)
c.1755A>T (p.Val585=)
 dbSNP
12g.55954319T>CCA480178542PMELc.1881A>G (p.Val627=)
c.1902A>G (p.Val634=)
n.460A>G
c.768A>G (p.Val256=)
c.1623A>G (p.Val541=)
c.1776A>G (p.Val592=)
c.1755A>G (p.Val585=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.55954319T>GCA480178543PMELc.1881A>C (p.Val627=)
c.1902A>C (p.Val634=)
n.460A>C
c.768A>C (p.Val256=)
c.1623A>C (p.Val541=)
c.1776A>C (p.Val592=)
c.1755A>C (p.Val585=)
 dbSNP
12g.55954319T=CA2038177633PMELc.1881A= (p.Val627=)
c.1902A= (p.Val634=)
n.460A=
c.768A= (p.Val256=)
c.1623A= (p.Val541=)
c.1776A= (p.Val592=)
c.1755A= (p.Val585=)
12g.55954320A>CCA385214788PMELc.1880T>G (p.Val627Gly)
c.1901T>G (p.Val634Gly)
n.459T>G
c.767T>G (p.Val256Gly)
c.1622T>G (p.Val541Gly)
c.1775T>G (p.Val592Gly)
c.1754T>G (p.Val585Gly)
12g.55954320A>GCA385214789PMELc.1880T>C (p.Val627Ala)
c.1901T>C (p.Val634Ala)
n.459T>C
c.767T>C (p.Val256Ala)
c.1622T>C (p.Val541Ala)
c.1775T>C (p.Val592Ala)
c.1754T>C (p.Val585Ala)
12g.55954320A>TCA385214790PMELc.1880T>A (p.Val627Glu)
c.1901T>A (p.Val634Glu)
n.459T>A
c.767T>A (p.Val256Glu)
c.1622T>A (p.Val541Glu)
c.1775T>A (p.Val592Glu)
c.1754T>A (p.Val585Glu)
 gnomAD v4
12g.55954321C>ACA385214791PMELc.1879G>T (p.Val627Leu)
c.1900G>T (p.Val634Leu)
n.458G>T
c.766G>T (p.Val256Leu)
c.1621G>T (p.Val541Leu)
c.1774G>T (p.Val592Leu)
c.1753G>T (p.Val585Leu)
12g.55954321C=CA2038177639PMELc.1879G= (p.Val627=)
c.1900G= (p.Val634=)
n.458G=
c.766G= (p.Val256=)
c.1621G= (p.Val541=)
c.1774G= (p.Val592=)
c.1753G= (p.Val585=)
12g.55954321C>GCA385214792PMELc.1879G>C (p.Val627Leu)
c.1900G>C (p.Val634Leu)
n.458G>C
c.766G>C (p.Val256Leu)
c.1621G>C (p.Val541Leu)
c.1774G>C (p.Val592Leu)
c.1753G>C (p.Val585Leu)
12g.55954321C>TCA6619818PMELc.1879G>A (p.Val627Ile)
c.1900G>A (p.Val634Ile)
n.458G>A
c.766G>A (p.Val256Ile)
c.1621G>A (p.Val541Ile)
c.1774G>A (p.Val592Ile)
c.1753G>A (p.Val585Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.55954322G>ACA6619819PMELc.1878C>T (p.Ser626=)
c.1899C>T (p.Ser633=)
n.457C>T
c.765C>T (p.Ser255=)
c.1620C>T (p.Ser540=)
c.1773C>T (p.Ser591=)
c.1752C>T (p.Ser584=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.55954322G>CCA480178553PMELc.1878C>G (p.Ser626=)
c.1899C>G (p.Ser633=)
n.457C>G
c.765C>G (p.Ser255=)
c.1620C>G (p.Ser540=)
c.1773C>G (p.Ser591=)
c.1752C>G (p.Ser584=)
12g.55954322G=CA2038177647PMELc.1878C= (p.Ser626=)
c.1899C= (p.Ser633=)
n.457C=
c.765C= (p.Ser255=)
c.1620C= (p.Ser540=)
c.1773C= (p.Ser591=)
c.1752C= (p.Ser584=)
12g.55954322G>TCA480178554PMELc.1878C>A (p.Ser626=)
c.1899C>A (p.Ser633=)
n.457C>A
c.765C>A (p.Ser255=)
c.1620C>A (p.Ser540=)
c.1773C>A (p.Ser591=)
c.1752C>A (p.Ser584=)
12g.55954323G>ACA385214793PMELc.1877C>T (p.Ser626Phe)
c.1898C>T (p.Ser633Phe)
n.456C>T
c.764C>T (p.Ser255Phe)
c.1619C>T (p.Ser540Phe)
c.1772C>T (p.Ser591Phe)
c.1751C>T (p.Ser584Phe)
 gnomAD v4
12g.55954323G>CCA237587850PMELc.1877C>G (p.Ser626Cys)
c.1898C>G (p.Ser633Cys)
n.456C>G
c.764C>G (p.Ser255Cys)
c.1619C>G (p.Ser540Cys)
c.1772C>G (p.Ser591Cys)
c.1751C>G (p.Ser584Cys)
 dbSNP
12g.55954323G=CA2038177655PMELc.1877C= (p.Ser626=)
c.1898C= (p.Ser633=)
n.456C=
c.764C= (p.Ser255=)
c.1619C= (p.Ser540=)
c.1772C= (p.Ser591=)
c.1751C= (p.Ser584=)
12g.55954323G>TCA385214794PMELc.1877C>A (p.Ser626Tyr)
c.1898C>A (p.Ser633Tyr)
n.456C>A
c.764C>A (p.Ser255Tyr)
c.1619C>A (p.Ser540Tyr)
c.1772C>A (p.Ser591Tyr)
c.1751C>A (p.Ser584Tyr)
12g.55954324A>CCA385214795PMELc.1876T>G (p.Ser626Ala)
c.1897T>G (p.Ser633Ala)
n.455T>G
c.763T>G (p.Ser255Ala)
c.1618T>G (p.Ser540Ala)
c.1771T>G (p.Ser591Ala)
c.1750T>G (p.Ser584Ala)
12g.55954324A>GCA385214797PMELc.1876T>C (p.Ser626Pro)
c.1897T>C (p.Ser633Pro)
n.455T>C
c.763T>C (p.Ser255Pro)
c.1618T>C (p.Ser540Pro)
c.1771T>C (p.Ser591Pro)
c.1750T>C (p.Ser584Pro)
12g.55954324A>TCA385214796PMELc.1876T>A (p.Ser626Thr)
c.1897T>A (p.Ser633Thr)
n.455T>A
c.763T>A (p.Ser255Thr)
c.1618T>A (p.Ser540Thr)
c.1771T>A (p.Ser591Thr)
c.1750T>A (p.Ser584Thr)
12g.55954325G>ACA480178565PMELc.1875C>T (p.Phe625=)
c.1896C>T (p.Phe632=)
n.454C>T
c.762C>T (p.Phe254=)
c.1617C>T (p.Phe539=)
c.1770C>T (p.Phe590=)
c.1749C>T (p.Phe583=)
 gnomAD v4
12g.55954325G>CCA385214798PMELc.1875C>G (p.Phe625Leu)
c.1896C>G (p.Phe632Leu)
n.454C>G
c.762C>G (p.Phe254Leu)
c.1617C>G (p.Phe539Leu)
c.1770C>G (p.Phe590Leu)
c.1749C>G (p.Phe583Leu)
12g.55954325G>TCA385214799PMELc.1875C>A (p.Phe625Leu)
c.1896C>A (p.Phe632Leu)
n.454C>A
c.762C>A (p.Phe254Leu)
c.1617C>A (p.Phe539Leu)
c.1770C>A (p.Phe590Leu)
c.1749C>A (p.Phe583Leu)
12g.55954326A>CCA385214800PMELc.1874T>G (p.Phe625Cys)
c.1895T>G (p.Phe632Cys)
n.453T>G
c.761T>G (p.Phe254Cys)
c.1616T>G (p.Phe539Cys)
c.1769T>G (p.Phe590Cys)
c.1748T>G (p.Phe583Cys)
12g.55954326A>GCA385214801PMELc.1874T>C (p.Phe625Ser)
c.1895T>C (p.Phe632Ser)
n.453T>C
c.761T>C (p.Phe254Ser)
c.1616T>C (p.Phe539Ser)
c.1769T>C (p.Phe590Ser)
c.1748T>C (p.Phe583Ser)
12g.55954326A>TCA385214802PMELc.1874T>A (p.Phe625Tyr)
c.1895T>A (p.Phe632Tyr)
n.453T>A
c.761T>A (p.Phe254Tyr)
c.1616T>A (p.Phe539Tyr)
c.1769T>A (p.Phe590Tyr)
c.1748T>A (p.Phe583Tyr)
12g.55954327A>CCA385214803PMELc.1873T>G (p.Phe625Val)
c.1894T>G (p.Phe632Val)
n.452T>G
c.760T>G (p.Phe254Val)
c.1615T>G (p.Phe539Val)
c.1768T>G (p.Phe590Val)
c.1747T>G (p.Phe583Val)
12g.55954327A>GCA385214804PMELc.1873T>C (p.Phe625Leu)
c.1894T>C (p.Phe632Leu)
n.452T>C
c.760T>C (p.Phe254Leu)
c.1615T>C (p.Phe539Leu)
c.1768T>C (p.Phe590Leu)
c.1747T>C (p.Phe583Leu)
12g.55954327A>TCA385214805PMELc.1873T>A (p.Phe625Ile)
c.1894T>A (p.Phe632Ile)
n.452T>A
c.760T>A (p.Phe254Ile)
c.1615T>A (p.Phe539Ile)
c.1768T>A (p.Phe590Ile)
c.1747T>A (p.Phe583Ile)
12g.55954328G>ACA6619820PMELc.1872C>T (p.Asp624=)
c.1893C>T (p.Asp631=)
n.451C>T
c.759C>T (p.Asp253=)
c.1614C>T (p.Asp538=)
c.1767C>T (p.Asp589=)
c.1746C>T (p.Asp582=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954328G>CCA385214806PMELc.1872C>G (p.Asp624Glu)
c.1893C>G (p.Asp631Glu)
n.451C>G
c.759C>G (p.Asp253Glu)
c.1614C>G (p.Asp538Glu)
c.1767C>G (p.Asp589Glu)
c.1746C>G (p.Asp582Glu)
12g.55954328G=CA2038177659PMELc.1872C= (p.Asp624=)
c.1893C= (p.Asp631=)
n.451C=
c.759C= (p.Asp253=)
c.1614C= (p.Asp538=)
c.1767C= (p.Asp589=)
c.1746C= (p.Asp582=)
12g.55954328G>TCA385214807PMELc.1872C>A (p.Asp624Glu)
c.1893C>A (p.Asp631Glu)
n.451C>A
c.759C>A (p.Asp253Glu)
c.1614C>A (p.Asp538Glu)
c.1767C>A (p.Asp589Glu)
c.1746C>A (p.Asp582Glu)
 dbSNP
12g.55954329T>ACA385214810PMELc.1871A>T (p.Asp624Val)
c.1892A>T (p.Asp631Val)
n.450A>T
c.758A>T (p.Asp253Val)
c.1613A>T (p.Asp538Val)
c.1766A>T (p.Asp589Val)
c.1745A>T (p.Asp582Val)
12g.55954329T>CCA385214809PMELc.1871A>G (p.Asp624Gly)
c.1892A>G (p.Asp631Gly)
n.450A>G
c.758A>G (p.Asp253Gly)
c.1613A>G (p.Asp538Gly)
c.1766A>G (p.Asp589Gly)
c.1745A>G (p.Asp582Gly)
12g.55954329T>GCA385214808PMELc.1871A>C (p.Asp624Ala)
c.1892A>C (p.Asp631Ala)
n.450A>C
c.758A>C (p.Asp253Ala)
c.1613A>C (p.Asp538Ala)
c.1766A>C (p.Asp589Ala)
c.1745A>C (p.Asp582Ala)
12g.55954330C>ACA385214811PMELc.1870G>T (p.Asp624Tyr)
c.1891G>T (p.Asp631Tyr)
n.449G>T
c.757G>T (p.Asp253Tyr)
c.1612G>T (p.Asp538Tyr)
c.1765G>T (p.Asp589Tyr)
c.1744G>T (p.Asp582Tyr)
12g.55954330C>GCA385214813PMELc.1870G>C (p.Asp624His)
c.1891G>C (p.Asp631His)
n.449G>C
c.757G>C (p.Asp253His)
c.1612G>C (p.Asp538His)
c.1765G>C (p.Asp589His)
c.1744G>C (p.Asp582His)
12g.55954330C>TCA385214812PMELc.1870G>A (p.Asp624Asn)
c.1891G>A (p.Asp631Asn)
n.449G>A
c.757G>A (p.Asp253Asn)
c.1612G>A (p.Asp538Asn)
c.1765G>A (p.Asp589Asn)
c.1744G>A (p.Asp582Asn)
 gnomAD v4
12g.55954331T>ACA385214814PMELc.1869A>T (p.Gln623His)
c.1890A>T (p.Gln630His)
n.448A>T
c.756A>T (p.Gln252His)
c.1611A>T (p.Gln537His)
c.1764A>T (p.Gln588His)
c.1743A>T (p.Gln581His)
12g.55954331T>CCA480178584PMELc.1869A>G (p.Gln623=)
c.1890A>G (p.Gln630=)
n.448A>G
c.756A>G (p.Gln252=)
c.1611A>G (p.Gln537=)
c.1764A>G (p.Gln588=)
c.1743A>G (p.Gln581=)
12g.55954331T>GCA385214815PMELc.1869A>C (p.Gln623His)
c.1890A>C (p.Gln630His)
n.448A>C
c.756A>C (p.Gln252His)
c.1611A>C (p.Gln537His)
c.1764A>C (p.Gln588His)
c.1743A>C (p.Gln581His)
12g.55954332T>ACA385214816PMELc.1868A>T (p.Gln623Leu)
c.1889A>T (p.Gln630Leu)
n.447A>T
c.755A>T (p.Gln252Leu)
c.1610A>T (p.Gln537Leu)
c.1763A>T (p.Gln588Leu)
c.1742A>T (p.Gln581Leu)
12g.55954332T>CCA385214817PMELc.1868A>G (p.Gln623Arg)
c.1889A>G (p.Gln630Arg)
n.447A>G
c.755A>G (p.Gln252Arg)
c.1610A>G (p.Gln537Arg)
c.1763A>G (p.Gln588Arg)
c.1742A>G (p.Gln581Arg)
12g.55954332T>GCA385214818PMELc.1868A>C (p.Gln623Pro)
c.1889A>C (p.Gln630Pro)
n.447A>C
c.755A>C (p.Gln252Pro)
c.1610A>C (p.Gln537Pro)
c.1763A>C (p.Gln588Pro)
c.1742A>C (p.Gln581Pro)
12g.55954333G>ACA385214819PMELc.1867C>T (p.Gln623Ter)
c.1888C>T (p.Gln630Ter)
n.446C>T
c.754C>T (p.Gln252Ter)
c.1609C>T (p.Gln537Ter)
c.1762C>T (p.Gln588Ter)
c.1741C>T (p.Gln581Ter)
12g.55954333G>CCA385214820PMELc.1867C>G (p.Gln623Glu)
c.1888C>G (p.Gln630Glu)
n.446C>G
c.754C>G (p.Gln252Glu)
c.1609C>G (p.Gln537Glu)
c.1762C>G (p.Gln588Glu)
c.1741C>G (p.Gln581Glu)
12g.55954333G>TCA385214821PMELc.1867C>A (p.Gln623Lys)
c.1888C>A (p.Gln630Lys)
n.446C>A
c.754C>A (p.Gln252Lys)
c.1609C>A (p.Gln537Lys)
c.1762C>A (p.Gln588Lys)
c.1741C>A (p.Gln581Lys)
12g.55954334C>ACA385214822PMELc.1866G>T (p.Lys622Asn)
c.1887G>T (p.Lys629Asn)
n.445G>T
c.753G>T (p.Lys251Asn)
c.1608G>T (p.Lys536Asn)
c.1761G>T (p.Lys587Asn)
c.1740G>T (p.Lys580Asn)
12g.55954334C>GCA385214823PMELc.1866G>C (p.Lys622Asn)
c.1887G>C (p.Lys629Asn)
n.445G>C
c.753G>C (p.Lys251Asn)
c.1608G>C (p.Lys536Asn)
c.1761G>C (p.Lys587Asn)
c.1740G>C (p.Lys580Asn)
12g.55954334C>TCA480178595PMELc.1866G>A (p.Lys622=)
c.1887G>A (p.Lys629=)
n.445G>A
c.753G>A (p.Lys251=)
c.1608G>A (p.Lys536=)
c.1761G>A (p.Lys587=)
c.1740G>A (p.Lys580=)
12g.55954335T>ACA385214824PMELc.1865A>T (p.Lys622Met)
c.1886A>T (p.Lys629Met)
n.444A>T
c.752A>T (p.Lys251Met)
c.1607A>T (p.Lys536Met)
c.1760A>T (p.Lys587Met)
c.1739A>T (p.Lys580Met)
12g.55954335T>CCA385214825PMELc.1865A>G (p.Lys622Arg)
c.1886A>G (p.Lys629Arg)
n.444A>G
c.752A>G (p.Lys251Arg)
c.1607A>G (p.Lys536Arg)
c.1760A>G (p.Lys587Arg)
c.1739A>G (p.Lys580Arg)
12g.55954335T>GCA385214826PMELc.1865A>C (p.Lys622Thr)
c.1886A>C (p.Lys629Thr)
n.444A>C
c.752A>C (p.Lys251Thr)
c.1607A>C (p.Lys536Thr)
c.1760A>C (p.Lys587Thr)
c.1739A>C (p.Lys580Thr)
12g.55954336T>ACA385214827PMELc.1864A>T (p.Lys622Ter)
c.1885A>T (p.Lys629Ter)
n.443A>T
c.751A>T (p.Lys251Ter)
c.1606A>T (p.Lys536Ter)
c.1759A>T (p.Lys587Ter)
c.1738A>T (p.Lys580Ter)
12g.55954336T>CCA385214829PMELc.1864A>G (p.Lys622Glu)
c.1885A>G (p.Lys629Glu)
n.443A>G
c.751A>G (p.Lys251Glu)
c.1606A>G (p.Lys536Glu)
c.1759A>G (p.Lys587Glu)
c.1738A>G (p.Lys580Glu)
12g.55954336T>GCA385214828PMELc.1864A>C (p.Lys622Gln)
c.1885A>C (p.Lys629Gln)
n.443A>C
c.751A>C (p.Lys251Gln)
c.1606A>C (p.Lys536Gln)
c.1759A>C (p.Lys587Gln)
c.1738A>C (p.Lys580Gln)
12g.55954337C>ACA385214830PMELc.1863G>T (p.Met621Ile)
c.1884G>T (p.Met628Ile)
n.442G>T
c.750G>T (p.Met250Ile)
c.1605G>T (p.Met535Ile)
c.1758G>T (p.Met586Ile)
c.1737G>T (p.Met579Ile)
12g.55954337C>GCA385214831PMELc.1863G>C (p.Met621Ile)
c.1884G>C (p.Met628Ile)
n.442G>C
c.750G>C (p.Met250Ile)
c.1605G>C (p.Met535Ile)
c.1758G>C (p.Met586Ile)
c.1737G>C (p.Met579Ile)
12g.55954337C>TCA385214832PMELc.1863G>A (p.Met621Ile)
c.1884G>A (p.Met628Ile)
n.442G>A
c.750G>A (p.Met250Ile)
c.1605G>A (p.Met535Ile)
c.1758G>A (p.Met586Ile)
c.1737G>A (p.Met579Ile)
 gnomAD v4
12g.55954338A=CA2038177666PMELc.1862T= (p.Met621=)
c.1883T= (p.Met628=)
n.441T=
c.749T= (p.Met250=)
c.1604T= (p.Met535=)
c.1757T= (p.Met586=)
c.1736T= (p.Met579=)
12g.55954338A>CCA385214833PMELc.1862T>G (p.Met621Arg)
c.1883T>G (p.Met628Arg)
n.441T>G
c.749T>G (p.Met250Arg)
c.1604T>G (p.Met535Arg)
c.1757T>G (p.Met586Arg)
c.1736T>G (p.Met579Arg)
12g.55954338A>GCA385214834PMELc.1862T>C (p.Met621Thr)
c.1883T>C (p.Met628Thr)
n.441T>C
c.749T>C (p.Met250Thr)
c.1604T>C (p.Met535Thr)
c.1757T>C (p.Met586Thr)
c.1736T>C (p.Met579Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.55954338A>TCA385214835PMELc.1862T>A (p.Met621Lys)
c.1883T>A (p.Met628Lys)
n.441T>A
c.749T>A (p.Met250Lys)
c.1604T>A (p.Met535Lys)
c.1757T>A (p.Met586Lys)
c.1736T>A (p.Met579Lys)
12g.55954339T>ACA385214836PMELc.1861A>T (p.Met621Leu)
c.1882A>T (p.Met628Leu)
n.440A>T
c.748A>T (p.Met250Leu)
c.1603A>T (p.Met535Leu)
c.1756A>T (p.Met586Leu)
c.1735A>T (p.Met579Leu)
12g.55954339T>CCA385214837PMELc.1861A>G (p.Met621Val)
c.1882A>G (p.Met628Val)
n.440A>G
c.748A>G (p.Met250Val)
c.1603A>G (p.Met535Val)
c.1756A>G (p.Met586Val)
c.1735A>G (p.Met579Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55954339T>GCA385214838PMELc.1861A>C (p.Met621Leu)
c.1882A>C (p.Met628Leu)
n.440A>C
c.748A>C (p.Met250Leu)
c.1603A>C (p.Met535Leu)
c.1756A>C (p.Met586Leu)
c.1735A>C (p.Met579Leu)
12g.55954339T=CA2038177668PMELc.1861A= (p.Met621=)
c.1882A= (p.Met628=)
n.440A=
c.748A= (p.Met250=)
c.1603A= (p.Met535=)
c.1756A= (p.Met586=)
c.1735A= (p.Met579=)
12g.55954340A=CA2038177670PMELc.1860T= (p.Leu620=)
c.1881T= (p.Leu627=)
n.439T=
c.747T= (p.Leu249=)
c.1602T= (p.Leu534=)
c.1755T= (p.Leu585=)
c.1734T= (p.Leu578=)
12g.55954340A>CCA480178612PMELc.1860T>G (p.Leu620=)
c.1881T>G (p.Leu627=)
n.439T>G
c.747T>G (p.Leu249=)
c.1602T>G (p.Leu534=)
c.1755T>G (p.Leu585=)
c.1734T>G (p.Leu578=)
12g.55954340A>GCA480178613PMELc.1860T>C (p.Leu620=)
c.1881T>C (p.Leu627=)
n.439T>C
c.747T>C (p.Leu249=)
c.1602T>C (p.Leu534=)
c.1755T>C (p.Leu585=)
c.1734T>C (p.Leu578=)
 dbSNP gnomAD v2 gnomAD v4
12g.55954340A>TCA480178615PMELc.1860T>A (p.Leu620=)
c.1881T>A (p.Leu627=)
n.439T>A
c.747T>A (p.Leu249=)
c.1602T>A (p.Leu534=)
c.1755T>A (p.Leu585=)
c.1734T>A (p.Leu578=)
12g.55954341A>CCA385214841PMELc.1859T>G (p.Leu620Arg)
c.1880T>G (p.Leu627Arg)
n.438T>G
c.746T>G (p.Leu249Arg)
c.1601T>G (p.Leu534Arg)
c.1754T>G (p.Leu585Arg)
c.1733T>G (p.Leu578Arg)
 gnomAD v4
12g.55954341A>GCA385214840PMELc.1859T>C (p.Leu620Pro)
c.1880T>C (p.Leu627Pro)
n.438T>C
c.746T>C (p.Leu249Pro)
c.1601T>C (p.Leu534Pro)
c.1754T>C (p.Leu585Pro)
c.1733T>C (p.Leu578Pro)
12g.55954341A>TCA385214839PMELc.1859T>A (p.Leu620His)
c.1880T>A (p.Leu627His)
n.438T>A
c.746T>A (p.Leu249His)
c.1601T>A (p.Leu534His)
c.1754T>A (p.Leu585His)
c.1733T>A (p.Leu578His)
12g.55954342G>ACA6619821PMELc.1858C>T (p.Leu620Phe)
c.1879C>T (p.Leu627Phe)
n.437C>T
c.745C>T (p.Leu249Phe)
c.1600C>T (p.Leu534Phe)
c.1753C>T (p.Leu585Phe)
c.1732C>T (p.Leu578Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954342G>CCA385214842PMELc.1858C>G (p.Leu620Val)
c.1879C>G (p.Leu627Val)
n.437C>G
c.745C>G (p.Leu249Val)
c.1600C>G (p.Leu534Val)
c.1753C>G (p.Leu585Val)
c.1732C>G (p.Leu578Val)
12g.55954342G=CA2038177672PMELc.1858C= (p.Leu620=)
c.1879C= (p.Leu627=)
n.437C=
c.745C= (p.Leu249=)
c.1600C= (p.Leu534=)
c.1753C= (p.Leu585=)
c.1732C= (p.Leu578=)
12g.55954342G>TCA385214843PMELc.1858C>A (p.Leu620Ile)
c.1879C>A (p.Leu627Ile)
n.437C>A
c.745C>A (p.Leu249Ile)
c.1600C>A (p.Leu534Ile)
c.1753C>A (p.Leu585Ile)
c.1732C>A (p.Leu578Ile)
12g.55954343T>ACA385214844PMELc.1857A>T (p.Arg619Ser)
c.1878A>T (p.Arg626Ser)
n.436A>T
c.744A>T (p.Arg248Ser)
c.1599A>T (p.Arg533Ser)
c.1752A>T (p.Arg584Ser)
c.1731A>T (p.Arg577Ser)
12g.55954343T>CCA480178624PMELc.1857A>G (p.Arg619=)
c.1878A>G (p.Arg626=)
n.436A>G
c.744A>G (p.Arg248=)
c.1599A>G (p.Arg533=)
c.1752A>G (p.Arg584=)
c.1731A>G (p.Arg577=)
12g.55954343T>GCA385214845PMELc.1857A>C (p.Arg619Ser)
c.1878A>C (p.Arg626Ser)
n.436A>C
c.744A>C (p.Arg248Ser)
c.1599A>C (p.Arg533Ser)
c.1752A>C (p.Arg584Ser)
c.1731A>C (p.Arg577Ser)
12g.55954344C>ACA385214846PMELc.1856G>T (p.Arg619Ile)
c.1877G>T (p.Arg626Ile)
n.435G>T
c.743G>T (p.Arg248Ile)
c.1598G>T (p.Arg533Ile)
c.1751G>T (p.Arg584Ile)
c.1730G>T (p.Arg577Ile)
12g.55954344C=CA2038177676PMELc.1856G= (p.Arg619=)
c.1877G= (p.Arg626=)
n.435G=
c.743G= (p.Arg248=)
c.1598G= (p.Arg533=)
c.1751G= (p.Arg584=)
c.1730G= (p.Arg577=)
12g.55954344C>GCA385214847PMELc.1856G>C (p.Arg619Thr)
c.1877G>C (p.Arg626Thr)
n.435G>C
c.743G>C (p.Arg248Thr)
c.1598G>C (p.Arg533Thr)
c.1751G>C (p.Arg584Thr)
c.1730G>C (p.Arg577Thr)
 gnomAD v4
12g.55954344C>TCA385214848PMELc.1856G>A (p.Arg619Lys)
c.1877G>A (p.Arg626Lys)
n.435G>A
c.743G>A (p.Arg248Lys)
c.1598G>A (p.Arg533Lys)
c.1751G>A (p.Arg584Lys)
c.1730G>A (p.Arg577Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55954345T>ACA385214849PMELc.1855A>T (p.Arg619Ter)
c.1876A>T (p.Arg626Ter)
n.434A>T
c.742A>T (p.Arg248Ter)
c.1597A>T (p.Arg533Ter)
c.1750A>T (p.Arg584Ter)
c.1729A>T (p.Arg577Ter)
12g.55954345T>CCA385214850PMELc.1855A>G (p.Arg619Gly)
c.1876A>G (p.Arg626Gly)
n.434A>G
c.742A>G (p.Arg248Gly)
c.1597A>G (p.Arg533Gly)
c.1750A>G (p.Arg584Gly)
c.1729A>G (p.Arg577Gly)
12g.55954345T>GCA480178631PMELc.1855A>C (p.Arg619=)
c.1876A>C (p.Arg626=)
n.434A>C
c.742A>C (p.Arg248=)
c.1597A>C (p.Arg533=)
c.1750A>C (p.Arg584=)
c.1729A>C (p.Arg577=)
12g.55954346G>ACA480178636PMELc.1854C>T (p.Arg618=)
c.1875C>T (p.Arg625=)
n.433C>T
c.741C>T (p.Arg247=)
c.1596C>T (p.Arg532=)
c.1749C>T (p.Arg583=)
c.1728C>T (p.Arg576=)
 gnomAD v4
12g.55954346G>CCA480178637PMELc.1854C>G (p.Arg618=)
c.1875C>G (p.Arg625=)
n.433C>G
c.741C>G (p.Arg247=)
c.1596C>G (p.Arg532=)
c.1749C>G (p.Arg583=)
c.1728C>G (p.Arg576=)
12g.55954346G>TCA480178633PMELc.1854C>A (p.Arg618=)
c.1875C>A (p.Arg625=)
n.433C>A
c.741C>A (p.Arg247=)
c.1596C>A (p.Arg532=)
c.1749C>A (p.Arg583=)
c.1728C>A (p.Arg576=)
12g.55954347C>ACA385214851PMELc.1853G>T (p.Arg618Leu)
c.1874G>T (p.Arg625Leu)
n.432G>T
c.740G>T (p.Arg247Leu)
c.1595G>T (p.Arg532Leu)
c.1748G>T (p.Arg583Leu)
c.1727G>T (p.Arg576Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.55954347C=CA2038177681PMELc.1853G= (p.Arg618=)
c.1874G= (p.Arg625=)
n.432G=
c.740G= (p.Arg247=)
c.1595G= (p.Arg532=)
c.1748G= (p.Arg583=)
c.1727G= (p.Arg576=)
12g.55954347C>GCA385214852PMELc.1853G>C (p.Arg618Pro)
c.1874G>C (p.Arg625Pro)
n.432G>C
c.740G>C (p.Arg247Pro)
c.1595G>C (p.Arg532Pro)
c.1748G>C (p.Arg583Pro)
c.1727G>C (p.Arg576Pro)
12g.55954347C>TCA6619822PMELc.1853G>A (p.Arg618His)
c.1874G>A (p.Arg625His)
n.432G>A
c.740G>A (p.Arg247His)
c.1595G>A (p.Arg532His)
c.1748G>A (p.Arg583His)
c.1727G>A (p.Arg576His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.55954348G>ACA6619823PMELc.1852C>T (p.Arg618Cys)
c.1873C>T (p.Arg625Cys)
n.431C>T
c.739C>T (p.Arg247Cys)
c.1594C>T (p.Arg532Cys)
c.1747C>T (p.Arg583Cys)
c.1726C>T (p.Arg576Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954348G>CCA385214853PMELc.1852C>G (p.Arg618Gly)
c.1873C>G (p.Arg625Gly)
n.431C>G
c.739C>G (p.Arg247Gly)
c.1594C>G (p.Arg532Gly)
c.1747C>G (p.Arg583Gly)
c.1726C>G (p.Arg576Gly)
12g.55954348G=CA2038177686PMELc.1852C= (p.Arg618=)
c.1873C= (p.Arg625=)
n.431C=
c.739C= (p.Arg247=)
c.1594C= (p.Arg532=)
c.1747C= (p.Arg583=)
c.1726C= (p.Arg576=)
12g.55954348G>TCA385214854PMELc.1852C>A (p.Arg618Ser)
c.1873C>A (p.Arg625Ser)
n.431C>A
c.739C>A (p.Arg247Ser)
c.1594C>A (p.Arg532Ser)
c.1747C>A (p.Arg583Ser)
c.1726C>A (p.Arg576Ser)
 dbSNP gnomAD v3 gnomAD v4
12g.55954349C>ACA385214855PMELc.1851G>T (p.Arg617Ser)
c.1872G>T (p.Arg624Ser)
n.430G>T
c.738G>T (p.Arg246Ser)
c.1593G>T (p.Arg531Ser)
c.1746G>T (p.Arg582Ser)
c.1725G>T (p.Arg575Ser)
12g.55954349C>GCA385214856PMELc.1851G>C (p.Arg617Ser)
c.1872G>C (p.Arg624Ser)
n.430G>C
c.738G>C (p.Arg246Ser)
c.1593G>C (p.Arg531Ser)
c.1746G>C (p.Arg582Ser)
c.1725G>C (p.Arg575Ser)
12g.55954349C>TCA480178648PMELc.1851G>A (p.Arg617=)
c.1872G>A (p.Arg624=)
n.430G>A
c.738G>A (p.Arg246=)
c.1593G>A (p.Arg531=)
c.1746G>A (p.Arg582=)
c.1725G>A (p.Arg575=)
12g.55954350C>ACA385214857PMELc.1851-1G>T (n.1851-1G>T)
c.1872-1G>T (n.1872-1G>T)
n.430-1G>T
c.738-1G>T (n.738-1G>T)
c.1593-1G>T (n.1593-1G>T)
c.1746-1G>T (n.1746-1G>T)
c.1725-1G>T (n.1725-1G>T)
12g.55954350C>GCA385214858PMELc.1851-1G>C (n.1851-1G>C)
c.1872-1G>C (n.1872-1G>C)
n.430-1G>C
c.738-1G>C (n.738-1G>C)
c.1593-1G>C (n.1593-1G>C)
c.1746-1G>C (n.1746-1G>C)
c.1725-1G>C (n.1725-1G>C)
12g.55954350C>TCA385214859PMELc.1851-1G>A (n.1851-1G>A)
c.1872-1G>A (n.1872-1G>A)
n.430-1G>A
c.738-1G>A (n.738-1G>A)
c.1593-1G>A (n.1593-1G>A)
c.1746-1G>A (n.1746-1G>A)
c.1725-1G>A (n.1725-1G>A)
12g.55954351T>ACA385214860PMELc.1851-2A>T (n.1851-2A>T)
c.1872-2A>T (n.1872-2A>T)
n.430-2A>T
c.738-2A>T (n.738-2A>T)
c.1593-2A>T (n.1593-2A>T)
c.1746-2A>T (n.1746-2A>T)
c.1725-2A>T (n.1725-2A>T)
12g.55954351T>CCA385214861PMELc.1851-2A>G (n.1851-2A>G)
c.1872-2A>G (n.1872-2A>G)
n.430-2A>G
c.738-2A>G (n.738-2A>G)
c.1593-2A>G (n.1593-2A>G)
c.1746-2A>G (n.1746-2A>G)
c.1725-2A>G (n.1725-2A>G)
12g.55954351T>GCA385214862PMELc.1851-2A>C (n.1851-2A>C)
c.1872-2A>C (n.1872-2A>C)
n.430-2A>C
c.738-2A>C (n.738-2A>C)
c.1593-2A>C (n.1593-2A>C)
c.1746-2A>C (n.1746-2A>C)
c.1725-2A>C (n.1725-2A>C)
12g.55954352G>CCA605248681PMELc.1851-3C>G (n.1851-3C>G)
c.1872-3C>G (n.1872-3C>G)
n.430-3C>G
c.738-3C>G (n.738-3C>G)
c.1593-3C>G (n.1593-3C>G)
c.1746-3C>G (n.1746-3C>G)
c.1725-3C>G (n.1725-3C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.55954352G=CA2038177690PMELc.1851-3C= (n.1851-3C=)
c.1872-3C= (n.1872-3C=)
n.430-3C=
c.738-3C= (n.738-3C=)
c.1593-3C= (n.1593-3C=)
c.1746-3C= (n.1746-3C=)
c.1725-3C= (n.1725-3C=)
12g.55954353A=CA2038177693PMELc.1851-4T= (n.1851-4T=)
c.1872-4T= (n.1872-4T=)
n.430-4T=
c.738-4T= (n.738-4T=)
c.1593-4T= (n.1593-4T=)
c.1746-4T= (n.1746-4T=)
c.1725-4T= (n.1725-4T=)
12g.55954353A>GCA2619238039PMELc.1851-4T>C (n.1851-4T>C)
c.1872-4T>C (n.1872-4T>C)
n.430-4T>C
c.738-4T>C (n.738-4T>C)
c.1593-4T>C (n.1593-4T>C)
c.1746-4T>C (n.1746-4T>C)
c.1725-4T>C (n.1725-4T>C)
 gnomAD v4
12g.55954353A>TCA605248682PMELc.1851-4T>A (n.1851-4T>A)
c.1872-4T>A (n.1872-4T>A)
n.430-4T>A
c.738-4T>A (n.738-4T>A)
c.1593-4T>A (n.1593-4T>A)
c.1746-4T>A (n.1746-4T>A)
c.1725-4T>A (n.1725-4T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.55954354T=CA2038177695PMELc.1851-5A= (n.1851-5A=)
c.1872-5A= (n.1872-5A=)
n.430-5A=
c.738-5A= (n.738-5A=)
c.1593-5A= (n.1593-5A=)
c.1746-5A= (n.1746-5A=)
c.1725-5A= (n.1725-5A=)
12g.55954355A=CA2038177697PMELc.1851-6T= (n.1851-6T=)
c.1872-6T= (n.1872-6T=)
n.430-6T=
c.738-6T= (n.738-6T=)
c.1593-6T= (n.1593-6T=)
c.1746-6T= (n.1746-6T=)
c.1725-6T= (n.1725-6T=)
12g.55954355A>GCA2038177698PMELc.1851-6T>C (n.1851-6T>C)
c.1872-6T>C (n.1872-6T>C)
n.430-6T>C
c.738-6T>C (n.738-6T>C)
c.1593-6T>C (n.1593-6T>C)
c.1746-6T>C (n.1746-6T>C)
c.1725-6T>C (n.1725-6T>C)
 dbSNP
12g.55954355dupCA947964346PMELc.1851-6dup (n.1851-6dup)
c.1872-6dup (n.1872-6dup)
n.430-6dup
c.738-6dup (n.738-6dup)
c.1593-6dup (n.1593-6dup)
c.1746-6dup (n.1746-6dup)
c.1725-6dup (n.1725-6dup)
 dbSNP gnomAD v3 gnomAD v4
12g.55954356T>CCA6619824PMELc.1851-7A>G (n.1851-7A>G)
c.1872-7A>G (n.1872-7A>G)
n.430-7A>G
c.738-7A>G (n.738-7A>G)
c.1593-7A>G (n.1593-7A>G)
c.1746-7A>G (n.1746-7A>G)
c.1725-7A>G (n.1725-7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954356T=CA2038177700PMELc.1851-7A= (n.1851-7A=)
c.1872-7A= (n.1872-7A=)
n.430-7A=
c.738-7A= (n.738-7A=)
c.1593-7A= (n.1593-7A=)
c.1746-7A= (n.1746-7A=)
c.1725-7A= (n.1725-7A=)
12g.55954359G>ACA6619825PMELc.1851-10C>T (n.1851-10C>T)
c.1872-10C>T (n.1872-10C>T)
n.430-10C>T
c.738-10C>T (n.738-10C>T)
c.1593-10C>T (n.1593-10C>T)
c.1746-10C>T (n.1746-10C>T)
c.1725-10C>T (n.1725-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954359G=CA2038177705PMELc.1851-10C= (n.1851-10C=)
c.1872-10C= (n.1872-10C=)
n.430-10C=
c.738-10C= (n.738-10C=)
c.1593-10C= (n.1593-10C=)
c.1746-10C= (n.1746-10C=)
c.1725-10C= (n.1725-10C=)
12g.55954361A>GCA2619238051PMELc.1851-12T>C (n.1851-12T>C)
c.1872-12T>C (n.1872-12T>C)
n.430-12T>C
c.738-12T>C (n.738-12T>C)
c.1593-12T>C (n.1593-12T>C)
c.1746-12T>C (n.1746-12T>C)
c.1725-12T>C (n.1725-12T>C)
 gnomAD v4
12g.55954362G>ACA2575185596PMELc.1851-13C>T (n.1851-13C>T)
c.1872-13C>T (n.1872-13C>T)
n.430-13C>T
c.738-13C>T (n.738-13C>T)
c.1593-13C>T (n.1593-13C>T)
c.1746-13C>T (n.1746-13C>T)
c.1725-13C>T (n.1725-13C>T)
12g.55954362G>CCA6619826PMELc.1851-13C>G (n.1851-13C>G)
c.1872-13C>G (n.1872-13C>G)
n.430-13C>G
c.738-13C>G (n.738-13C>G)
c.1593-13C>G (n.1593-13C>G)
c.1746-13C>G (n.1746-13C>G)
c.1725-13C>G (n.1725-13C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55954362G=CA2038177709PMELc.1851-13C= (n.1851-13C=)
c.1872-13C= (n.1872-13C=)
n.430-13C=
c.738-13C= (n.738-13C=)
c.1593-13C= (n.1593-13C=)
c.1746-13C= (n.1746-13C=)
c.1725-13C= (n.1725-13C=)
12g.55954365G>ACA2619238056PMELc.1851-16C>T (n.1851-16C>T)
c.1872-16C>T (n.1872-16C>T)
n.430-16C>T
c.738-16C>T (n.738-16C>T)
c.1593-16C>T (n.1593-16C>T)
c.1746-16C>T (n.1746-16C>T)
c.1725-16C>T (n.1725-16C>T)
 gnomAD v4
12g.55954365G>CCA2575185597PMELc.1851-16C>G (n.1851-16C>G)
c.1872-16C>G (n.1872-16C>G)
n.430-16C>G
c.738-16C>G (n.738-16C>G)
c.1593-16C>G (n.1593-16C>G)
c.1746-16C>G (n.1746-16C>G)
c.1725-16C>G (n.1725-16C>G)
 gnomAD v4
12g.55954366G>ACA2597109193PMELc.1851-17C>T (n.1851-17C>T)
c.1872-17C>T (n.1872-17C>T)
n.430-17C>T
c.738-17C>T (n.738-17C>T)
c.1593-17C>T (n.1593-17C>T)
c.1746-17C>T (n.1746-17C>T)
c.1725-17C>T (n.1725-17C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.55954367G>ACA2619238058PMELc.1851-18C>T (n.1851-18C>T)
c.1872-18C>T (n.1872-18C>T)
n.430-18C>T
c.738-18C>T (n.738-18C>T)
c.1593-18C>T (n.1593-18C>T)
c.1746-18C>T (n.1746-18C>T)
c.1725-18C>T (n.1725-18C>T)
 gnomAD v4
12g.55954368G>ACA2575185598PMELc.1851-19C>T (n.1851-19C>T)
c.1872-19C>T (n.1872-19C>T)
n.430-19C>T
c.738-19C>T (n.738-19C>T)
c.1593-19C>T (n.1593-19C>T)
c.1746-19C>T (n.1746-19C>T)
c.1725-19C>T (n.1725-19C>T)
 gnomAD v4
12g.55954368G>TCA2619238059PMELc.1851-19C>A (n.1851-19C>A)
c.1872-19C>A (n.1872-19C>A)
n.430-19C>A
c.738-19C>A (n.738-19C>A)
c.1593-19C>A (n.1593-19C>A)
c.1746-19C>A (n.1746-19C>A)
c.1725-19C>A (n.1725-19C>A)
 gnomAD v4
12g.55954370A=CA2038177713PMELc.1851-21T= (n.1851-21T=)
c.1872-21T= (n.1872-21T=)
n.430-21T=
c.738-21T= (n.738-21T=)
c.1593-21T= (n.1593-21T=)
c.1746-21T= (n.1746-21T=)
c.1725-21T= (n.1725-21T=)
12g.55954370A>CCA6619827PMELc.1851-21T>G (n.1851-21T>G)
c.1872-21T>G (n.1872-21T>G)
n.430-21T>G
c.738-21T>G (n.738-21T>G)
c.1593-21T>G (n.1593-21T>G)
c.1746-21T>G (n.1746-21T>G)
c.1725-21T>G (n.1725-21T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954372A=CA2038177715PMELc.1851-23T= (n.1851-23T=)
c.1872-23T= (n.1872-23T=)
n.430-23T=
c.738-23T= (n.738-23T=)
c.1593-23T= (n.1593-23T=)
c.1746-23T= (n.1746-23T=)
c.1725-23T= (n.1725-23T=)
12g.55954372A>GCA605248683PMELc.1851-23T>C (n.1851-23T>C)
c.1872-23T>C (n.1872-23T>C)
n.430-23T>C
c.738-23T>C (n.738-23T>C)
c.1593-23T>C (n.1593-23T>C)
c.1746-23T>C (n.1746-23T>C)
c.1725-23T>C (n.1725-23T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.55954376G>ACA2619238063PMELc.1851-27C>T (n.1851-27C>T)
c.1872-27C>T (n.1872-27C>T)
n.430-27C>T
c.738-27C>T (n.738-27C>T)
c.1593-27C>T (n.1593-27C>T)
c.1746-27C>T (n.1746-27C>T)
c.1725-27C>T (n.1725-27C>T)
 gnomAD v4
12g.55954378T>CCA2619238064PMELc.1851-29A>G (n.1851-29A>G)
c.1872-29A>G (n.1872-29A>G)
n.430-29A>G
c.738-29A>G (n.738-29A>G)
c.1593-29A>G (n.1593-29A>G)
c.1746-29A>G (n.1746-29A>G)
c.1725-29A>G (n.1725-29A>G)
 gnomAD v4
12g.55954381C>TCA2619238066PMELc.1851-32G>A (n.1851-32G>A)
c.1872-32G>A (n.1872-32G>A)
n.430-32G>A
c.738-32G>A (n.738-32G>A)
c.1593-32G>A (n.1593-32G>A)
c.1746-32G>A (n.1746-32G>A)
c.1725-32G>A (n.1725-32G>A)
 gnomAD v4
12g.55954383A=CA2038177718PMELc.1851-34T= (n.1851-34T=)
c.1872-34T= (n.1872-34T=)
n.430-34T=
c.738-34T= (n.738-34T=)
c.1593-34T= (n.1593-34T=)
c.1746-34T= (n.1746-34T=)
c.1725-34T= (n.1725-34T=)
12g.55954383A>GCA6619828PMELc.1851-34T>C (n.1851-34T>C)
c.1872-34T>C (n.1872-34T>C)
n.430-34T>C
c.738-34T>C (n.738-34T>C)
c.1593-34T>C (n.1593-34T>C)
c.1746-34T>C (n.1746-34T>C)
c.1725-34T>C (n.1725-34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954384T>CCA6619829PMELc.1851-35A>G (n.1851-35A>G)
c.1872-35A>G (n.1872-35A>G)
n.430-35A>G
c.738-35A>G (n.738-35A>G)
c.1593-35A>G (n.1593-35A>G)
c.1746-35A>G (n.1746-35A>G)
c.1725-35A>G (n.1725-35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954384T=CA2038177722PMELc.1851-35A= (n.1851-35A=)
c.1872-35A= (n.1872-35A=)
n.430-35A=
c.738-35A= (n.738-35A=)
c.1593-35A= (n.1593-35A=)
c.1746-35A= (n.1746-35A=)
c.1725-35A= (n.1725-35A=)
12g.55954387A=CA2038177724PMELc.1851-38T= (n.1851-38T=)
c.1872-38T= (n.1872-38T=)
n.430-38T=
c.738-38T= (n.738-38T=)
c.1593-38T= (n.1593-38T=)
c.1746-38T= (n.1746-38T=)
c.1725-38T= (n.1725-38T=)
12g.55954387A>GCA237587905PMELc.1851-38T>C (n.1851-38T>C)
c.1872-38T>C (n.1872-38T>C)
n.430-38T>C
c.738-38T>C (n.738-38T>C)
c.1593-38T>C (n.1593-38T>C)
c.1746-38T>C (n.1746-38T>C)
c.1725-38T>C (n.1725-38T>C)
 dbSNP gnomAD v4
12g.55954388C=CA2038177727PMELc.1851-39G= (n.1851-39G=)
c.1872-39G= (n.1872-39G=)
n.430-39G=
c.738-39G= (n.738-39G=)
c.1593-39G= (n.1593-39G=)
c.1746-39G= (n.1746-39G=)
c.1725-39G= (n.1725-39G=)
12g.55954388C>TCA6619830PMELc.1851-39G>A (n.1851-39G>A)
c.1872-39G>A (n.1872-39G>A)
n.430-39G>A
c.738-39G>A (n.738-39G>A)
c.1593-39G>A (n.1593-39G>A)
c.1746-39G>A (n.1746-39G>A)
c.1725-39G>A (n.1725-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55954391delCA2619238075PMELc.1851-40del (n.1851-40del)
c.1872-40del (n.1872-40del)
n.430-40del
c.738-40del (n.738-40del)
c.1593-40del (n.1593-40del)
c.1746-40del (n.1746-40del)
c.1725-40del (n.1725-40del)
 gnomAD v4
12g.55954390A=CA2038177729PMELc.1851-41T= (n.1851-41T=)
c.1872-41T= (n.1872-41T=)
n.430-41T=
c.738-41T= (n.738-41T=)
c.1593-41T= (n.1593-41T=)
c.1746-41T= (n.1746-41T=)
c.1725-41T= (n.1725-41T=)
12g.55954390A>GCA6619831PMELc.1851-41T>C (n.1851-41T>C)
c.1872-41T>C (n.1872-41T>C)
n.430-41T>C
c.738-41T>C (n.738-41T>C)
c.1593-41T>C (n.1593-41T>C)
c.1746-41T>C (n.1746-41T>C)
c.1725-41T>C (n.1725-41T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55954392G>ACA2619238077PMELc.1851-43C>T (n.1851-43C>T)
c.1872-43C>T (n.1872-43C>T)
n.430-43C>T
c.738-43C>T (n.738-43C>T)
c.1593-43C>T (n.1593-43C>T)
c.1746-43C>T (n.1746-43C>T)
c.1725-43C>T (n.1725-43C>T)
 gnomAD v4
12g.55954393G>ACA2038177734PMELc.1851-44C>T (n.1851-44C>T)
c.1872-44C>T (n.1872-44C>T)
n.430-44C>T
c.738-44C>T (n.738-44C>T)
c.1593-44C>T (n.1593-44C>T)
c.1746-44C>T (n.1746-44C>T)
c.1725-44C>T (n.1725-44C>T)
 dbSNP gnomAD v4
12g.55954393G>CCA6619832PMELc.1851-44C>G (n.1851-44C>G)
c.1872-44C>G (n.1872-44C>G)
n.430-44C>G
c.738-44C>G (n.738-44C>G)
c.1593-44C>G (n.1593-44C>G)
c.1746-44C>G (n.1746-44C>G)
c.1725-44C>G (n.1725-44C>G)
 dbSNP ExAC gnomAD v2
12g.55954393G=CA2038177732PMELc.1851-44C= (n.1851-44C=)
c.1872-44C= (n.1872-44C=)
n.430-44C=
c.738-44C= (n.738-44C=)
c.1593-44C= (n.1593-44C=)
c.1746-44C= (n.1746-44C=)
c.1725-44C= (n.1725-44C=)
12g.55954394T>CCA2619238079PMELc.1851-45A>G (n.1851-45A>G)
c.1872-45A>G (n.1872-45A>G)
n.430-45A>G
c.738-45A>G (n.738-45A>G)
c.1593-45A>G (n.1593-45A>G)
c.1746-45A>G (n.1746-45A>G)
c.1725-45A>G (n.1725-45A>G)
 gnomAD v4
12g.55954395A>GCA2619238081PMELc.1851-46T>C (n.1851-46T>C)
c.1872-46T>C (n.1872-46T>C)
n.430-46T>C
c.738-46T>C (n.738-46T>C)
c.1593-46T>C (n.1593-46T>C)
c.1746-46T>C (n.1746-46T>C)
c.1725-46T>C (n.1725-46T>C)
 gnomAD v4
12g.55954396G>ACA2572486096PMELc.1851-47C>T (n.1851-47C>T)
c.1872-47C>T (n.1872-47C>T)
n.430-47C>T
c.738-47C>T (n.738-47C>T)
c.1593-47C>T (n.1593-47C>T)
c.1746-47C>T (n.1746-47C>T)
c.1725-47C>T (n.1725-47C>T)
12g.55954396G=CA2038177737PMELc.1851-47C= (n.1851-47C=)
c.1872-47C= (n.1872-47C=)
n.430-47C=
c.738-47C= (n.738-47C=)
c.1593-47C= (n.1593-47C=)
c.1746-47C= (n.1746-47C=)
c.1725-47C= (n.1725-47C=)
12g.55954396G>TCA2038177741PMELc.1851-47C>A (n.1851-47C>A)
c.1872-47C>A (n.1872-47C>A)
n.430-47C>A
c.738-47C>A (n.738-47C>A)
c.1593-47C>A (n.1593-47C>A)
c.1746-47C>A (n.1746-47C>A)
c.1725-47C>A (n.1725-47C>A)
 dbSNP gnomAD v4
12g.55954397C>GCA2619238085PMELc.1851-48G>C (n.1851-48G>C)
c.1872-48G>C (n.1872-48G>C)
n.430-48G>C
c.738-48G>C (n.738-48G>C)
c.1593-48G>C (n.1593-48G>C)
c.1746-48G>C (n.1746-48G>C)
c.1725-48G>C (n.1725-48G>C)
 gnomAD v4
12g.55954398T>CCA2619238086PMELc.1851-49A>G (n.1851-49A>G)
c.1872-49A>G (n.1872-49A>G)
n.430-49A>G
c.738-49A>G (n.738-49A>G)
c.1593-49A>G (n.1593-49A>G)
c.1746-49A>G (n.1746-49A>G)
c.1725-49A>G (n.1725-49A>G)
 gnomAD v4
12g.55954399T>GCA6619833PMELc.1851-50A>C (n.1851-50A>C)
c.1872-50A>C (n.1872-50A>C)
n.430-50A>C
c.738-50A>C (n.738-50A>C)
c.1593-50A>C (n.1593-50A>C)
c.1746-50A>C (n.1746-50A>C)
c.1725-50A>C (n.1725-50A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55954399T=CA2038177744PMELc.1851-50A= (n.1851-50A=)
c.1872-50A= (n.1872-50A=)
n.430-50A=
c.738-50A= (n.738-50A=)
c.1593-50A= (n.1593-50A=)
c.1746-50A= (n.1746-50A=)
c.1725-50A= (n.1725-50A=)
12g.55954400G>CCA2619238090PMELc.1851-51C>G (n.1851-51C>G)
c.1872-51C>G (n.1872-51C>G)
n.430-51C>G
c.738-51C>G (n.738-51C>G)
c.1593-51C>G (n.1593-51C>G)
c.1746-51C>G (n.1746-51C>G)
c.1725-51C>G (n.1725-51C>G)
 gnomAD v4
12g.55954400G>TCA2619238088PMELc.1851-51C>A (n.1851-51C>A)
c.1872-51C>A (n.1872-51C>A)
n.430-51C>A
c.738-51C>A (n.738-51C>A)
c.1593-51C>A (n.1593-51C>A)
c.1746-51C>A (n.1746-51C>A)
c.1725-51C>A (n.1725-51C>A)
 gnomAD v4
12g.55954402C=CA2038177746PMELc.1851-53G= (n.1851-53G=)
c.1872-53G= (n.1872-53G=)
n.430-53G=
c.738-53G= (n.738-53G=)
c.1593-53G= (n.1593-53G=)
c.1746-53G= (n.1746-53G=)
c.1725-53G= (n.1725-53G=)
12g.55954402C>TCA2575185599PMELc.1851-53G>A (n.1851-53G>A)
c.1872-53G>A (n.1872-53G>A)
n.430-53G>A
c.738-53G>A (n.738-53G>A)
c.1593-53G>A (n.1593-53G>A)
c.1746-53G>A (n.1746-53G>A)
c.1725-53G>A (n.1725-53G>A)
 gnomAD v4

Number of alleles fetched