Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18784924G>A | CA404877868 | COMP | c.1886C>T (p.Ala629Val) c.1727C>T (p.Ala576Val) c.1787C>T (p.Ala596Val) | |
19 | g.18784924G>C | CA404877873 | COMP | c.1886C>G (p.Ala629Gly) c.1727C>G (p.Ala576Gly) c.1787C>G (p.Ala596Gly) | |
19 | g.18784924G>T | CA404877870 | COMP | c.1886C>A (p.Ala629Asp) c.1727C>A (p.Ala576Asp) c.1787C>A (p.Ala596Asp) | |
19 | g.18784925C>A | CA404877877 | COMP | c.1885G>T (p.Ala629Ser) c.1726G>T (p.Ala576Ser) c.1786G>T (p.Ala596Ser) | |
19 | g.18784925C>G | CA404877880 | COMP | c.1885G>C (p.Ala629Pro) c.1726G>C (p.Ala576Pro) c.1786G>C (p.Ala596Pro) | |
19 | g.18784925C>T | CA404877881 | COMP | c.1885G>A (p.Ala629Thr) c.1726G>A (p.Ala576Thr) c.1786G>A (p.Ala596Thr) | |
19 | g.18784926A>C | CA506052350 | COMP | c.1884T>G (p.Arg628=) c.1725T>G (p.Arg575=) c.1785T>G (p.Arg595=) | |
19 | g.18784926A>G | CA506052351 | COMP | c.1884T>C (p.Arg628=) c.1725T>C (p.Arg575=) c.1785T>C (p.Arg595=) | |
19 | g.18784926A>T | CA506052352 | COMP | c.1884T>A (p.Arg628=) c.1725T>A (p.Arg575=) c.1785T>A (p.Arg595=) | |
19 | g.18784927C>A | CA404877882 | COMP | c.1883G>T (p.Arg628Leu) c.1724G>T (p.Arg575Leu) c.1784G>T (p.Arg595Leu) | |
19 | g.18784927C= | CA2326524878 | COMP | c.1883G= (p.Arg628=) c.1724G= (p.Arg575=) c.1784G= (p.Arg595=) | |
19 | g.18784927C>G | CA404877884 | COMP | c.1883G>C (p.Arg628Pro) c.1724G>C (p.Arg575Pro) c.1784G>C (p.Arg595Pro) | ClinVar dbSNP COSMIC |
19 | g.18784927C>T | CA404877887 | COMP | c.1883G>A (p.Arg628His) c.1724G>A (p.Arg575His) c.1784G>A (p.Arg595His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18784928G>A | CA404877890 | COMP | c.1882C>T (p.Arg628Cys) c.1723C>T (p.Arg575Cys) c.1783C>T (p.Arg595Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784928G>C | CA404877891 | COMP | c.1882C>G (p.Arg628Gly) c.1723C>G (p.Arg575Gly) c.1783C>G (p.Arg595Gly) | |
19 | g.18784928G= | CA2326524879 | COMP | c.1882C= (p.Arg628=) c.1723C= (p.Arg575=) c.1783C= (p.Arg595=) | |
19 | g.18784928G>T | CA404877893 | COMP | c.1882C>A (p.Arg628Ser) c.1723C>A (p.Arg575Ser) c.1783C>A (p.Arg595Ser) | |
19 | g.18784929G>A | CA9316247 | COMP | c.1881C>T (p.Phe627=) c.1722C>T (p.Phe574=) c.1782C>T (p.Phe594=) | dbSNP ExAC gnomAD v2 |
19 | g.18784929G>C | CA404877899 | COMP | c.1881C>G (p.Phe627Leu) c.1722C>G (p.Phe574Leu) c.1782C>G (p.Phe594Leu) | |
19 | g.18784929G= | CA2326524880 | COMP | c.1881C= (p.Phe627=) c.1722C= (p.Phe574=) c.1782C= (p.Phe594=) | |
19 | g.18784929G>T | CA404877900 | COMP | c.1881C>A (p.Phe627Leu) c.1722C>A (p.Phe574Leu) c.1782C>A (p.Phe594Leu) | |
19 | g.18784930A>C | CA404877903 | COMP | c.1880T>G (p.Phe627Cys) c.1721T>G (p.Phe574Cys) c.1781T>G (p.Phe594Cys) | |
19 | g.18784930A>G | CA404877909 | COMP | c.1880T>C (p.Phe627Ser) c.1721T>C (p.Phe574Ser) c.1781T>C (p.Phe594Ser) | |
19 | g.18784930A>T | CA404877906 | COMP | c.1880T>A (p.Phe627Tyr) c.1721T>A (p.Phe574Tyr) c.1781T>A (p.Phe594Tyr) | |
19 | g.18784931A= | CA2326524881 | COMP | c.1879T= (p.Phe627=) c.1720T= (p.Phe574=) c.1780T= (p.Phe594=) | |
19 | g.18784931A>C | CA404877911 | COMP | c.1879T>G (p.Phe627Val) c.1720T>G (p.Phe574Val) c.1780T>G (p.Phe594Val) | |
19 | g.18784931A>G | CA9316248 | COMP | c.1879T>C (p.Phe627Leu) c.1720T>C (p.Phe574Leu) c.1780T>C (p.Phe594Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18784931A>T | CA404877915 | COMP | c.1879T>A (p.Phe627Ile) c.1720T>A (p.Phe574Ile) c.1780T>A (p.Phe594Ile) | |
19 | g.18784932G>A | CA506052353 | COMP | c.1878C>T (p.Pro626=) c.1719C>T (p.Pro573=) c.1779C>T (p.Pro593=) | gnomAD v4 |
19 | g.18784932G>C | CA506052354 | COMP | c.1878C>G (p.Pro626=) c.1719C>G (p.Pro573=) c.1779C>G (p.Pro593=) | |
19 | g.18784932G>T | CA506052355 | COMP | c.1878C>A (p.Pro626=) c.1719C>A (p.Pro573=) c.1779C>A (p.Pro593=) | gnomAD v4 |
19 | g.18784935del | CA2583621573 | COMP | c.1878del (p.Phe627SerfsTer14) c.1719del (p.Phe574SerfsTer14) c.1779del (p.Phe594SerfsTer14) | gnomAD v4 |
19 | g.18784933G>A | CA404877917 | COMP | c.1877C>T (p.Pro626Leu) c.1718C>T (p.Pro573Leu) c.1778C>T (p.Pro593Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.18784933G>C | CA404877920 | COMP | c.1877C>G (p.Pro626Arg) c.1718C>G (p.Pro573Arg) c.1778C>G (p.Pro593Arg) | |
19 | g.18784933G= | CA2326524882 | COMP | c.1877C= (p.Pro626=) c.1718C= (p.Pro573=) c.1778C= (p.Pro593=) | |
19 | g.18784933G>T | CA404877923 | COMP | c.1877C>A (p.Pro626His) c.1718C>A (p.Pro573His) c.1778C>A (p.Pro593His) | |
19 | g.18784934G>A | CA404877932 | COMP | c.1876C>T (p.Pro626Ser) c.1717C>T (p.Pro573Ser) c.1777C>T (p.Pro593Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18784934G>C | CA404877926 | COMP | c.1876C>G (p.Pro626Ala) c.1717C>G (p.Pro573Ala) c.1777C>G (p.Pro593Ala) | |
19 | g.18784934G= | CA2326524883 | COMP | c.1876C= (p.Pro626=) c.1717C= (p.Pro573=) c.1777C= (p.Pro593=) | |
19 | g.18784934G>T | CA404877929 | COMP | c.1876C>A (p.Pro626Thr) c.1717C>A (p.Pro573Thr) c.1777C>A (p.Pro593Thr) | dbSNP |
19 | g.18784935G>A | CA506052356 | COMP | c.1875C>T (p.Asn625=) c.1716C>T (p.Asn572=) c.1776C>T (p.Asn592=) | |
19 | g.18784935G>C | CA404877934 | COMP | c.1875C>G (p.Asn625Lys) c.1716C>G (p.Asn572Lys) c.1776C>G (p.Asn592Lys) | |
19 | g.18784935G= | CA2326524884 | COMP | c.1875C= (p.Asn625=) c.1716C= (p.Asn572=) c.1776C= (p.Asn592=) | |
19 | g.18784935G>T | CA9316249 | COMP | c.1875C>A (p.Asn625Lys) c.1716C>A (p.Asn572Lys) c.1776C>A (p.Asn592Lys) | dbSNP ExAC |
19 | g.18784936T>A | CA9316251 | COMP | c.1874A>T (p.Asn625Ile) c.1715A>T (p.Asn572Ile) c.1775A>T (p.Asn592Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.18784936T>C | CA404877942 | COMP | c.1874A>G (p.Asn625Ser) c.1715A>G (p.Asn572Ser) c.1775A>G (p.Asn592Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18784936T>G | CA9316250 | COMP | c.1874A>C (p.Asn625Thr) c.1715A>C (p.Asn572Thr) c.1775A>C (p.Asn592Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.18784936T= | CA2326524885 | COMP | c.1874A= (p.Asn625=) c.1715A= (p.Asn572=) c.1775A= (p.Asn592=) | |
19 | g.18784937T>A | CA404877946 | COMP | c.1873A>T (p.Asn625Tyr) c.1714A>T (p.Asn572Tyr) c.1774A>T (p.Asn592Tyr) | |
19 | g.18784937T>C | CA9316253 | COMP | c.1873A>G (p.Asn625Asp) c.1714A>G (p.Asn572Asp) c.1774A>G (p.Asn592Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18784937T>G | CA404877948 | COMP | c.1873A>C (p.Asn625His) c.1714A>C (p.Asn572His) c.1774A>C (p.Asn592His) | |
19 | g.18784937T= | CA2326524886 | COMP | c.1873A= (p.Asn625=) c.1714A= (p.Asn572=) c.1774A= (p.Asn592=) | |
19 | g.18784937_18784938del | CA2583621574 | COMP | c.1872_1873del (p.Asn625ProfsTer?) c.1713_1714del (p.Asn572ProfsTer?) c.1773_1774del (p.Asn592ProfsTer?) | gnomAD v4 |
19 | g.18784938C>A | CA506052357 | COMP | c.1872G>T (p.Ala624=) c.1713G>T (p.Ala571=) c.1773G>T (p.Ala591=) | |
19 | g.18784938C= | CA2326524887 | COMP | c.1872G= (p.Ala624=) c.1713G= (p.Ala571=) c.1773G= (p.Ala591=) | |
19 | g.18784938C>G | CA506052358 | COMP | c.1872G>C (p.Ala624=) c.1713G>C (p.Ala571=) c.1773G>C (p.Ala591=) | |
19 | g.18784938C>T | CA9316254 | COMP | c.1872G>A (p.Ala624=) c.1713G>A (p.Ala571=) c.1773G>A (p.Ala591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784938dup | CA9316252 | COMP | c.1872dup (p.Asn625GlufsTer?) c.1713dup (p.Asn572GlufsTer?) c.1773dup (p.Asn592GlufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.18784939G>A | CA9316256 | COMP | c.1871C>T (p.Ala624Val) c.1712C>T (p.Ala571Val) c.1772C>T (p.Ala591Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784939G>C | CA9316255 | COMP | c.1871C>G (p.Ala624Gly) c.1712C>G (p.Ala571Gly) c.1772C>G (p.Ala591Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784939G= | CA2326524888 | COMP | c.1871C= (p.Ala624=) c.1712C= (p.Ala571=) c.1772C= (p.Ala591=) | |
19 | g.18784939G>T | CA404877958 | COMP | c.1871C>A (p.Ala624Glu) c.1712C>A (p.Ala571Glu) c.1772C>A (p.Ala591Glu) | |
19 | g.18784940C>A | CA404877964 | COMP | c.1870G>T (p.Ala624Ser) c.1711G>T (p.Ala571Ser) c.1771G>T (p.Ala591Ser) | |
19 | g.18784940C>G | CA404877966 | COMP | c.1870G>C (p.Ala624Pro) c.1711G>C (p.Ala571Pro) c.1771G>C (p.Ala591Pro) | |
19 | g.18784940C>T | CA404877969 | COMP | c.1870G>A (p.Ala624Thr) c.1711G>A (p.Ala571Thr) c.1771G>A (p.Ala591Thr) | ClinVar dbSNP |
19 | g.18784941_18784942insCCC | CA2741617857 | COMP | c.1870_1871insGGG (p.Gln623_Ala624insGly) c.1711_1712insGGG (p.Gln570_Ala571insGly) c.1771_1772insGGG (p.Gln590_Ala591insGly) | |
19 | g.18784941_18784942insCCCCC | CA306253542 | COMP | c.1870_1871insGGGGG (p.Ala624GlyfsTer19) c.1711_1712insGGGGG (p.Ala571GlyfsTer19) c.1771_1772insGGGGG (p.Ala591GlyfsTer19) | dbSNP |
19 | g.18784941C>A | CA404877972 | COMP | c.1869G>T (p.Gln623His) c.1710G>T (p.Gln570His) c.1770G>T (p.Gln590His) | |
19 | g.18784941C>G | CA404877975 | COMP | c.1869G>C (p.Gln623His) c.1710G>C (p.Gln570His) c.1770G>C (p.Gln590His) | |
19 | g.18784941C>T | CA506052359 | COMP | c.1869G>A (p.Gln623=) c.1710G>A (p.Gln570=) c.1770G>A (p.Gln590=) | |
19 | g.18784942T>A | CA404877985 | COMP | c.1868A>T (p.Gln623Leu) c.1709A>T (p.Gln570Leu) c.1769A>T (p.Gln590Leu) | |
19 | g.18784942T>C | CA404877988 | COMP | c.1868A>G (p.Gln623Arg) c.1709A>G (p.Gln570Arg) c.1769A>G (p.Gln590Arg) | |
19 | g.18784942T>G | CA404877982 | COMP | c.1868A>C (p.Gln623Pro) c.1709A>C (p.Gln570Pro) c.1769A>C (p.Gln590Pro) | gnomAD v4 |
19 | g.18784943G>A | CA404877991 | COMP | c.1867C>T (p.Gln623Ter) c.1708C>T (p.Gln570Ter) c.1768C>T (p.Gln590Ter) | gnomAD v4 |
19 | g.18784943G>C | CA404877997 | COMP | c.1867C>G (p.Gln623Glu) c.1708C>G (p.Gln570Glu) c.1768C>G (p.Gln590Glu) | |
19 | g.18784943G>T | CA404877994 | COMP | c.1867C>A (p.Gln623Lys) c.1708C>A (p.Gln570Lys) c.1768C>A (p.Gln590Lys) | |
19 | g.18784944C>A | CA404878002 | COMP | c.1866G>T (p.Trp622Cys) c.1707G>T (p.Trp569Cys) c.1767G>T (p.Trp589Cys) | |
19 | g.18784944C>G | CA404878004 | COMP | c.1866G>C (p.Trp622Cys) c.1707G>C (p.Trp569Cys) c.1767G>C (p.Trp589Cys) | |
19 | g.18784944C>T | CA404878006 | COMP | c.1866G>A (p.Trp622Ter) c.1707G>A (p.Trp569Ter) c.1767G>A (p.Trp589Ter) | |
19 | g.18784945C>A | CA404878008 | COMP | c.1865G>T (p.Trp622Leu) c.1706G>T (p.Trp569Leu) c.1766G>T (p.Trp589Leu) | |
19 | g.18784945C>G | CA404878010 | COMP | c.1865G>C (p.Trp622Ser) c.1706G>C (p.Trp569Ser) c.1766G>C (p.Trp589Ser) | |
19 | g.18784945C>T | CA404878013 | COMP | c.1865G>A (p.Trp622Ter) c.1706G>A (p.Trp569Ter) c.1766G>A (p.Trp589Ter) | |
19 | g.18784946A>C | CA404878017 | COMP | c.1864T>G (p.Trp622Gly) c.1705T>G (p.Trp569Gly) c.1765T>G (p.Trp589Gly) | |
19 | g.18784946A>G | CA404878018 | COMP | c.1864T>C (p.Trp622Arg) c.1705T>C (p.Trp569Arg) c.1765T>C (p.Trp589Arg) | |
19 | g.18784946A>T | CA404878021 | COMP | c.1864T>A (p.Trp622Arg) c.1705T>A (p.Trp569Arg) c.1765T>A (p.Trp589Arg) | |
19 | g.18784947A= | CA2326524889 | COMP | c.1863T= (p.Tyr621=) c.1704T= (p.Tyr568=) c.1764T= (p.Tyr588=) | |
19 | g.18784947A>C | CA404878023 | COMP | c.1863T>G (p.Tyr621Ter) c.1704T>G (p.Tyr568Ter) c.1764T>G (p.Tyr588Ter) | |
19 | g.18784947A>G | CA506052360 | COMP | c.1863T>C (p.Tyr621=) c.1704T>C (p.Tyr568=) c.1764T>C (p.Tyr588=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18784947A>T | CA404878026 | COMP | c.1863T>A (p.Tyr621Ter) c.1704T>A (p.Tyr568Ter) c.1764T>A (p.Tyr588Ter) | |
19 | g.18784948T>A | CA404878033 | COMP | c.1862A>T (p.Tyr621Phe) c.1703A>T (p.Tyr568Phe) c.1763A>T (p.Tyr588Phe) | |
19 | g.18784948T>C | CA404878031 | COMP | c.1862A>G (p.Tyr621Cys) c.1703A>G (p.Tyr568Cys) c.1763A>G (p.Tyr588Cys) | |
19 | g.18784948T>G | CA404878029 | COMP | c.1862A>C (p.Tyr621Ser) c.1703A>C (p.Tyr568Ser) c.1763A>C (p.Tyr588Ser) | |
19 | g.18784949A>C | CA404878036 | COMP | c.1861T>G (p.Tyr621Asp) c.1702T>G (p.Tyr568Asp) c.1762T>G (p.Tyr588Asp) | |
19 | g.18784949A>G | CA404878038 | COMP | c.1861T>C (p.Tyr621His) c.1702T>C (p.Tyr568His) c.1762T>C (p.Tyr588His) | gnomAD v3 gnomAD v4 |
19 | g.18784949A>T | CA404878041 | COMP | c.1861T>A (p.Tyr621Asn) c.1702T>A (p.Tyr568Asn) c.1762T>A (p.Tyr588Asn) | |
19 | g.18784950del | CA2583621575 | COMP | c.1860del (p.Tyr621IlefsTer20) c.1701del (p.Tyr568IlefsTer20) c.1761del (p.Tyr588IlefsTer20) | gnomAD v4 |
19 | g.18784950C>A | CA506052362 | COMP | c.1860G>T (p.Thr620=) c.1701G>T (p.Thr567=) c.1761G>T (p.Thr587=) | |
19 | g.18784950C= | CA2326524890 | COMP | c.1860G= (p.Thr620=) c.1701G= (p.Thr567=) c.1761G= (p.Thr587=) | |
19 | g.18784950C>G | CA506052361 | COMP | c.1860G>C (p.Thr620=) c.1701G>C (p.Thr567=) c.1761G>C (p.Thr587=) | gnomAD v4 |
19 | g.18784950C>T | CA9316257 | COMP | c.1860G>A (p.Thr620=) c.1701G>A (p.Thr567=) c.1761G>A (p.Thr587=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784951G>A | CA9316258 | COMP | c.1859C>T (p.Thr620Met) c.1700C>T (p.Thr567Met) c.1760C>T (p.Thr587Met) | dbSNP ExAC gnomAD v2 |
19 | g.18784951G>C | CA404878046 | COMP | c.1859C>G (p.Thr620Arg) c.1700C>G (p.Thr567Arg) c.1760C>G (p.Thr587Arg) | gnomAD v4 |
19 | g.18784951G= | CA2326524891 | COMP | c.1859C= (p.Thr620=) c.1700C= (p.Thr567=) c.1760C= (p.Thr587=) | |
19 | g.18784951G>T | CA404878049 | COMP | c.1859C>A (p.Thr620Lys) c.1700C>A (p.Thr567Lys) c.1760C>A (p.Thr587Lys) | |
19 | g.18784952T>A | CA404878053 | COMP | c.1858A>T (p.Thr620Ser) c.1699A>T (p.Thr567Ser) c.1759A>T (p.Thr587Ser) | |
19 | g.18784952T>C | CA404878054 | COMP | c.1858A>G (p.Thr620Ala) c.1699A>G (p.Thr567Ala) c.1759A>G (p.Thr587Ala) | |
19 | g.18784952T>G | CA404878057 | COMP | c.1858A>C (p.Thr620Pro) c.1699A>C (p.Thr567Pro) c.1759A>C (p.Thr587Pro) | |
19 | g.18784953T>A | CA404878060 | COMP | c.1857A>T (p.Gln619His) c.1698A>T (p.Gln566His) c.1758A>T (p.Gln586His) | |
19 | g.18784953T>C | CA506052363 | COMP | c.1857A>G (p.Gln619=) c.1698A>G (p.Gln566=) c.1758A>G (p.Gln586=) | |
19 | g.18784953T>G | CA404878061 | COMP | c.1857A>C (p.Gln619His) c.1698A>C (p.Gln566His) c.1758A>C (p.Gln586His) | |
19 | g.18784954T>A | CA404878069 | COMP | c.1856A>T (p.Gln619Leu) c.1697A>T (p.Gln566Leu) c.1757A>T (p.Gln586Leu) | |
19 | g.18784954T>C | CA404878067 | COMP | c.1856A>G (p.Gln619Arg) c.1697A>G (p.Gln566Arg) c.1757A>G (p.Gln586Arg) | |
19 | g.18784954T>G | CA404878064 | COMP | c.1856A>C (p.Gln619Pro) c.1697A>C (p.Gln566Pro) c.1757A>C (p.Gln586Pro) | |
19 | g.18784955G>A | CA404878077 | COMP | c.1855C>T (p.Gln619Ter) c.1696C>T (p.Gln566Ter) c.1756C>T (p.Gln586Ter) | |
19 | g.18784955G>C | CA404878073 | COMP | c.1855C>G (p.Gln619Glu) c.1696C>G (p.Gln566Glu) c.1756C>G (p.Gln586Glu) | |
19 | g.18784955G>T | CA404878076 | COMP | c.1855C>A (p.Gln619Lys) c.1696C>A (p.Gln566Lys) c.1756C>A (p.Gln586Lys) | |
19 | g.18784955dup | CA2583621576 | COMP | c.1855dup (p.Gln619ProfsTer?) c.1696dup (p.Gln566ProfsTer?) c.1756dup (p.Gln586ProfsTer?) | gnomAD v4 |
19 | g.18784956C>A | CA404878080 | COMP | c.1854G>T (p.Glu618Asp) c.1695G>T (p.Glu565Asp) c.1755G>T (p.Glu585Asp) | |
19 | g.18784956C>G | CA404878083 | COMP | c.1854G>C (p.Glu618Asp) c.1695G>C (p.Glu565Asp) c.1755G>C (p.Glu585Asp) | ClinVar |
19 | g.18784956C>T | CA506052364 | COMP | c.1854G>A (p.Glu618=) c.1695G>A (p.Glu565=) c.1755G>A (p.Glu585=) | gnomAD v4 |
19 | g.18784957T>A | CA404878085 | COMP | c.1853A>T (p.Glu618Val) c.1694A>T (p.Glu565Val) c.1754A>T (p.Glu585Val) | |
19 | g.18784957T>C | CA404878087 | COMP | c.1853A>G (p.Glu618Gly) c.1694A>G (p.Glu565Gly) c.1754A>G (p.Glu585Gly) | |
19 | g.18784957T>G | CA404878089 | COMP | c.1853A>C (p.Glu618Ala) c.1694A>C (p.Glu565Ala) c.1754A>C (p.Glu585Ala) | |
19 | g.18784958C>A | CA404878093 | COMP | c.1852G>T (p.Glu618Ter) c.1693G>T (p.Glu565Ter) c.1753G>T (p.Glu585Ter) | |
19 | g.18784958C>G | CA404878094 | COMP | c.1852G>C (p.Glu618Gln) c.1693G>C (p.Glu565Gln) c.1753G>C (p.Glu585Gln) | |
19 | g.18784958C>T | CA404878097 | COMP | c.1852G>A (p.Glu618Lys) c.1693G>A (p.Glu565Lys) c.1753G>A (p.Glu585Lys) | gnomAD v4 |
19 | g.18784959C>A | CA404878100 | COMP | c.1851G>T (p.Met617Ile) c.1692G>T (p.Met564Ile) c.1752G>T (p.Met584Ile) | |
19 | g.18784959C= | CA2326524892 | COMP | c.1851G= (p.Met617=) c.1692G= (p.Met564=) c.1752G= (p.Met584=) | |
19 | g.18784959C>G | CA404878102 | COMP | c.1851G>C (p.Met617Ile) c.1692G>C (p.Met564Ile) c.1752G>C (p.Met584Ile) | |
19 | g.18784959C>T | CA306253563 | COMP | c.1851G>A (p.Met617Ile) c.1692G>A (p.Met564Ile) c.1752G>A (p.Met584Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18784960A= | CA2326524893 | COMP | c.1850T= (p.Met617=) c.1691T= (p.Met564=) c.1751T= (p.Met584=) | |
19 | g.18784960A>C | CA404878111 | COMP | c.1850T>G (p.Met617Arg) c.1691T>G (p.Met564Arg) c.1751T>G (p.Met584Arg) | |
19 | g.18784960A>G | CA9316259 | COMP | c.1850T>C (p.Met617Thr) c.1691T>C (p.Met564Thr) c.1751T>C (p.Met584Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18784960A>T | CA404878108 | COMP | c.1850T>A (p.Met617Lys) c.1691T>A (p.Met564Lys) c.1751T>A (p.Met584Lys) | |
19 | g.18784961T>A | CA404878113 | COMP | c.1849A>T (p.Met617Leu) c.1690A>T (p.Met564Leu) c.1750A>T (p.Met584Leu) | |
19 | g.18784961T>C | CA404878115 | COMP | c.1849A>G (p.Met617Val) c.1690A>G (p.Met564Val) c.1750A>G (p.Met584Val) | |
19 | g.18784961T>G | CA9316260 | COMP | c.1849A>C (p.Met617Leu) c.1690A>C (p.Met564Leu) c.1750A>C (p.Met584Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784961T= | CA2326524894 | COMP | c.1849A= (p.Met617=) c.1690A= (p.Met564=) c.1750A= (p.Met584=) | |
19 | g.18784962C>A | CA404878117 | COMP | c.1848G>T (p.Gln616His) c.1689G>T (p.Gln563His) c.1749G>T (p.Gln583His) | |
19 | g.18784962C>G | CA404878118 | COMP | c.1848G>C (p.Gln616His) c.1689G>C (p.Gln563His) c.1749G>C (p.Gln583His) | |
19 | g.18784962C>T | CA506052365 | COMP | c.1848G>A (p.Gln616=) c.1689G>A (p.Gln563=) c.1749G>A (p.Gln583=) | |
19 | g.18784963T>A | CA404878121 | COMP | c.1847A>T (p.Gln616Leu) c.1688A>T (p.Gln563Leu) c.1748A>T (p.Gln583Leu) | |
19 | g.18784963T>C | CA404878122 | COMP | c.1847A>G (p.Gln616Arg) c.1688A>G (p.Gln563Arg) c.1748A>G (p.Gln583Arg) | |
19 | g.18784963T>G | CA404878124 | COMP | c.1847A>C (p.Gln616Pro) c.1688A>C (p.Gln563Pro) c.1748A>C (p.Gln583Pro) | |
19 | g.18784964G>A | CA404878127 | COMP | c.1846C>T (p.Gln616Ter) c.1687C>T (p.Gln563Ter) c.1747C>T (p.Gln583Ter) | |
19 | g.18784964G>C | CA404878128 | COMP | c.1846C>G (p.Gln616Glu) c.1687C>G (p.Gln563Glu) c.1747C>G (p.Gln583Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18784964G= | CA2326524895 | COMP | c.1846C= (p.Gln616=) c.1687C= (p.Gln563=) c.1747C= (p.Gln583=) | |
19 | g.18784964G>T | CA404878129 | COMP | c.1846C>A (p.Gln616Lys) c.1687C>A (p.Gln563Lys) c.1747C>A (p.Gln583Lys) | |
19 | g.18784965C>A | CA404878131 | COMP | c.1845G>T (p.Lys615Asn) c.1686G>T (p.Lys562Asn) c.1746G>T (p.Lys582Asn) | |
19 | g.18784965C= | CA2326524896 | COMP | c.1845G= (p.Lys615=) c.1686G= (p.Lys562=) c.1746G= (p.Lys582=) | |
19 | g.18784965C>G | CA404878133 | COMP | c.1845G>C (p.Lys615Asn) c.1686G>C (p.Lys562Asn) c.1746G>C (p.Lys582Asn) | |
19 | g.18784965C>T | CA506052366 | COMP | c.1845G>A (p.Lys615=) c.1686G>A (p.Lys562=) c.1746G>A (p.Lys582=) | dbSNP gnomAD v4 |
19 | g.18784966T>A | CA404878137 | COMP | c.1844A>T (p.Lys615Met) c.1685A>T (p.Lys562Met) c.1745A>T (p.Lys582Met) | |
19 | g.18784966T>C | CA9316261 | COMP | c.1844A>G (p.Lys615Arg) c.1685A>G (p.Lys562Arg) c.1745A>G (p.Lys582Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18784966T>G | CA404878135 | COMP | c.1844A>C (p.Lys615Thr) c.1685A>C (p.Lys562Thr) c.1745A>C (p.Lys582Thr) | |
19 | g.18784966T= | CA2326524897 | COMP | c.1844A= (p.Lys615=) c.1685A= (p.Lys562=) c.1745A= (p.Lys582=) | |
19 | g.18784967T>A | CA404878142 | COMP | c.1843A>T (p.Lys615Ter) c.1684A>T (p.Lys562Ter) c.1744A>T (p.Lys582Ter) | |
19 | g.18784967T>C | CA404878145 | COMP | c.1843A>G (p.Lys615Glu) c.1684A>G (p.Lys562Glu) c.1744A>G (p.Lys582Glu) | dbSNP |
19 | g.18784967T>G | CA404878143 | COMP | c.1843A>C (p.Lys615Gln) c.1684A>C (p.Lys562Gln) c.1744A>C (p.Lys582Gln) | |
19 | g.18784967T= | CA2326524898 | COMP | c.1843A= (p.Lys615=) c.1684A= (p.Lys562=) c.1744A= (p.Lys582=) | |
19 | g.18784968C>A | CA404878148 | COMP | c.1842G>T (p.Trp614Cys) c.1683G>T (p.Trp561Cys) c.1743G>T (p.Trp581Cys) | |
19 | g.18784968C>G | CA404878149 | COMP | c.1842G>C (p.Trp614Cys) c.1683G>C (p.Trp561Cys) c.1743G>C (p.Trp581Cys) | |
19 | g.18784968C>T | CA404878151 | COMP | c.1842G>A (p.Trp614Ter) c.1683G>A (p.Trp561Ter) c.1743G>A (p.Trp581Ter) | |
19 | g.18784969C>A | CA404878154 | COMP | c.1841G>T (p.Trp614Leu) c.1682G>T (p.Trp561Leu) c.1742G>T (p.Trp581Leu) | |
19 | g.18784969C>G | CA404878155 | COMP | c.1841G>C (p.Trp614Ser) c.1682G>C (p.Trp561Ser) c.1742G>C (p.Trp581Ser) | |
19 | g.18784969C>T | CA404878157 | COMP | c.1841G>A (p.Trp614Ter) c.1682G>A (p.Trp561Ter) c.1742G>A (p.Trp581Ter) | |
19 | g.18784970A>C | CA404878159 | COMP | c.1840T>G (p.Trp614Gly) c.1681T>G (p.Trp561Gly) c.1741T>G (p.Trp581Gly) | |
19 | g.18784970A>G | CA404878160 | COMP | c.1840T>C (p.Trp614Arg) c.1681T>C (p.Trp561Arg) c.1741T>C (p.Trp581Arg) | |
19 | g.18784970A>T | CA404878162 | COMP | c.1840T>A (p.Trp614Arg) c.1681T>A (p.Trp561Arg) c.1741T>A (p.Trp581Arg) | |
19 | g.18784971C>A | CA404878164 | COMP | c.1839G>T (p.Met613Ile) c.1680G>T (p.Met560Ile) c.1740G>T (p.Met580Ile) | |
19 | g.18784971C= | CA2326524899 | COMP | c.1839G= (p.Met613=) c.1680G= (p.Met560=) c.1740G= (p.Met580=) | |
19 | g.18784971C>G | CA404878166 | COMP | c.1839G>C (p.Met613Ile) c.1680G>C (p.Met560Ile) c.1740G>C (p.Met580Ile) | |
19 | g.18784971C>T | CA404878168 | COMP | c.1839G>A (p.Met613Ile) c.1680G>A (p.Met560Ile) c.1740G>A (p.Met580Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18784972A= | CA2326524900 | COMP | c.1838T= (p.Met613=) c.1679T= (p.Met560=) c.1739T= (p.Met580=) | |
19 | g.18784972A>C | CA404878169 | COMP | c.1838T>G (p.Met613Arg) c.1679T>G (p.Met560Arg) c.1739T>G (p.Met580Arg) | |
19 | g.18784972A>G | CA404878171 | COMP | c.1838T>C (p.Met613Thr) c.1679T>C (p.Met560Thr) c.1739T>C (p.Met580Thr) | dbSNP |
19 | g.18784972A>T | CA404878170 | COMP | c.1838T>A (p.Met613Lys) c.1679T>A (p.Met560Lys) c.1739T>A (p.Met580Lys) | |
19 | g.18784973T>A | CA404878172 | COMP | c.1837A>T (p.Met613Leu) c.1678A>T (p.Met560Leu) c.1738A>T (p.Met580Leu) | |
19 | g.18784973T>C | CA404878173 | COMP | c.1837A>G (p.Met613Val) c.1678A>G (p.Met560Val) c.1738A>G (p.Met580Val) | |
19 | g.18784973T>G | CA404878174 | COMP | c.1837A>C (p.Met613Leu) c.1678A>C (p.Met560Leu) c.1738A>C (p.Met580Leu) | |
19 | g.18784974G>A | CA506052367 | COMP | c.1836C>T (p.Val612=) c.1677C>T (p.Val559=) c.1737C>T (p.Val579=) | |
19 | g.18784974G>C | CA10642486 | COMP | c.1836C>G (p.Val612=) c.1677C>G (p.Val559=) c.1737C>G (p.Val579=) | ClinVar dbSNP |
19 | g.18784974G= | CA2326524901 | COMP | c.1836C= (p.Val612=) c.1677C= (p.Val559=) c.1737C= (p.Val579=) | |
19 | g.18784974G>T | CA506052368 | COMP | c.1836C>A (p.Val612=) c.1677C>A (p.Val559=) c.1737C>A (p.Val579=) | |
19 | g.18784975A= | CA2326524902 | COMP | c.1835T= (p.Val612=) c.1676T= (p.Val559=) c.1736T= (p.Val579=) | |
19 | g.18784975A>C | CA404878176 | COMP | c.1835T>G (p.Val612Gly) c.1676T>G (p.Val559Gly) c.1736T>G (p.Val579Gly) | dbSNP |
19 | g.18784975A>G | CA404878179 | COMP | c.1835T>C (p.Val612Ala) c.1676T>C (p.Val559Ala) c.1736T>C (p.Val579Ala) | |
19 | g.18784975A>T | CA404878181 | COMP | c.1835T>A (p.Val612Asp) c.1676T>A (p.Val559Asp) c.1736T>A (p.Val579Asp) | |
19 | g.18784976C>A | CA404878183 | COMP | c.1834G>T (p.Val612Phe) c.1675G>T (p.Val559Phe) c.1735G>T (p.Val579Phe) | |
19 | g.18784976C>G | CA404878184 | COMP | c.1834G>C (p.Val612Leu) c.1675G>C (p.Val559Leu) c.1735G>C (p.Val579Leu) | gnomAD v4 |
19 | g.18784976C>T | CA404878185 | COMP | c.1834G>A (p.Val612Ile) c.1675G>A (p.Val559Ile) c.1735G>A (p.Val579Ile) | |
19 | g.18784977C>A | CA506052369 | COMP | c.1833G>T (p.Val611=) c.1674G>T (p.Val558=) c.1734G>T (p.Val578=) | |
19 | g.18784977C= | CA2326524903 | COMP | c.1833G= (p.Val611=) c.1674G= (p.Val558=) c.1734G= (p.Val578=) | |
19 | g.18784977C>G | CA506052370 | COMP | c.1833G>C (p.Val611=) c.1674G>C (p.Val558=) c.1734G>C (p.Val578=) | |
19 | g.18784977C>T | CA306253618 | COMP | c.1833G>A (p.Val611=) c.1674G>A (p.Val558=) c.1734G>A (p.Val578=) | dbSNP |
19 | g.18784978A= | CA2326524904 | COMP | c.1832T= (p.Val611=) c.1673T= (p.Val558=) c.1733T= (p.Val578=) | |
19 | g.18784978A>C | CA404878187 | COMP | c.1832T>G (p.Val611Gly) c.1673T>G (p.Val558Gly) c.1733T>G (p.Val578Gly) | |
19 | g.18784978A>G | CA404878188 | COMP | c.1832T>C (p.Val611Ala) c.1673T>C (p.Val558Ala) c.1733T>C (p.Val578Ala) | dbSNP |
19 | g.18784978A>T | CA404878186 | COMP | c.1832T>A (p.Val611Glu) c.1673T>A (p.Val558Glu) c.1733T>A (p.Val578Glu) | |
19 | g.18784979C>A | CA404878191 | COMP | c.1831G>T (p.Val611Leu) c.1672G>T (p.Val558Leu) c.1732G>T (p.Val578Leu) | |
19 | g.18784979C>G | CA404878195 | COMP | c.1831G>C (p.Val611Leu) c.1672G>C (p.Val558Leu) c.1732G>C (p.Val578Leu) | |
19 | g.18784979C>T | CA404878198 | COMP | c.1831G>A (p.Val611Met) c.1672G>A (p.Val558Met) c.1732G>A (p.Val578Met) | |
19 | g.18784980G>A | CA9316262 | COMP | c.1830C>T (p.Tyr610=) c.1671C>T (p.Tyr557=) c.1731C>T (p.Tyr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784980G>C | CA404878202 | COMP | c.1830C>G (p.Tyr610Ter) c.1671C>G (p.Tyr557Ter) c.1731C>G (p.Tyr577Ter) | |
19 | g.18784980G= | CA2326524905 | COMP | c.1830C= (p.Tyr610=) c.1671C= (p.Tyr557=) c.1731C= (p.Tyr577=) | |
19 | g.18784980G>T | CA404878206 | COMP | c.1830C>A (p.Tyr610Ter) c.1671C>A (p.Tyr557Ter) c.1731C>A (p.Tyr577Ter) | |
19 | g.18784981T>A | CA9316263 | COMP | c.1829A>T (p.Tyr610Phe) c.1670A>T (p.Tyr557Phe) c.1730A>T (p.Tyr577Phe) | dbSNP ExAC gnomAD v2 |
19 | g.18784981T>C | CA404878213 | COMP | c.1829A>G (p.Tyr610Cys) c.1670A>G (p.Tyr557Cys) c.1730A>G (p.Tyr577Cys) | ClinVar dbSNP |
19 | g.18784981T>G | CA404878217 | COMP | c.1829A>C (p.Tyr610Ser) c.1670A>C (p.Tyr557Ser) c.1730A>C (p.Tyr577Ser) | |
19 | g.18784981T= | CA2326524906 | COMP | c.1829A= (p.Tyr610=) c.1670A= (p.Tyr557=) c.1730A= (p.Tyr577=) | |
19 | g.18784982A= | CA2326524907 | COMP | c.1828T= (p.Tyr610=) c.1669T= (p.Tyr557=) c.1729T= (p.Tyr577=) | |
19 | g.18784982A>C | CA404878220 | COMP | c.1828T>G (p.Tyr610Asp) c.1669T>G (p.Tyr557Asp) c.1729T>G (p.Tyr577Asp) | |
19 | g.18784982A>G | CA404878222 | COMP | c.1828T>C (p.Tyr610His) c.1669T>C (p.Tyr557His) c.1729T>C (p.Tyr577His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18784982A>T | CA404878226 | COMP | c.1828T>A (p.Tyr610Asn) c.1669T>A (p.Tyr557Asn) c.1729T>A (p.Tyr577Asn) | |
19 | g.18784982dup | CA2739276625 | COMP | c.1828dup (p.Tyr610LeufsTer?) c.1669dup (p.Tyr557LeufsTer?) c.1729dup (p.Tyr577LeufsTer?) | ClinVar |
19 | g.18784983G>A | CA506052371 | COMP | c.1827C>T (p.Phe609=) c.1668C>T (p.Phe556=) c.1728C>T (p.Phe576=) | |
19 | g.18784983G>C | CA404878233 | COMP | c.1827C>G (p.Phe609Leu) c.1668C>G (p.Phe556Leu) c.1728C>G (p.Phe576Leu) | |
19 | g.18784983G>T | CA404878235 | COMP | c.1827C>A (p.Phe609Leu) c.1668C>A (p.Phe556Leu) c.1728C>A (p.Phe576Leu) | |
19 | g.18784984A>C | CA404878238 | COMP | c.1826T>G (p.Phe609Cys) c.1667T>G (p.Phe556Cys) c.1727T>G (p.Phe576Cys) | |
19 | g.18784984A>G | CA404878245 | COMP | c.1826T>C (p.Phe609Ser) c.1667T>C (p.Phe556Ser) c.1727T>C (p.Phe576Ser) | |
19 | g.18784984A>T | CA404878243 | COMP | c.1826T>A (p.Phe609Tyr) c.1667T>A (p.Phe556Tyr) c.1727T>A (p.Phe576Tyr) | |
19 | g.18784985A= | CA2326524908 | COMP | c.1825T= (p.Phe609=) c.1666T= (p.Phe556=) c.1726T= (p.Phe576=) | |
19 | g.18784985A>C | CA404878251 | COMP | c.1825T>G (p.Phe609Val) c.1666T>G (p.Phe556Val) c.1726T>G (p.Phe576Val) | |
19 | g.18784985A>G | CA9316264 | COMP | c.1825T>C (p.Phe609Leu) c.1666T>C (p.Phe556Leu) c.1726T>C (p.Phe576Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784985A>T | CA404878256 | COMP | c.1825T>A (p.Phe609Ile) c.1666T>A (p.Phe556Ile) c.1726T>A (p.Phe576Ile) | |
19 | g.18784986G>A | CA506052372 | COMP | c.1824C>T (p.Ser608=) c.1665C>T (p.Ser555=) c.1725C>T (p.Ser575=) | COSMIC |
19 | g.18784986G>C | CA404878261 | COMP | c.1824C>G (p.Ser608Arg) c.1665C>G (p.Ser555Arg) c.1725C>G (p.Ser575Arg) | |
19 | g.18784986G>T | CA404878265 | COMP | c.1824C>A (p.Ser608Arg) c.1665C>A (p.Ser555Arg) c.1725C>A (p.Ser575Arg) | |
19 | g.18784987C>A | CA404878269 | COMP | c.1823G>T (p.Ser608Ile) c.1664G>T (p.Ser555Ile) c.1724G>T (p.Ser575Ile) | |
19 | g.18784987C>G | CA404878273 | COMP | c.1823G>C (p.Ser608Thr) c.1664G>C (p.Ser555Thr) c.1724G>C (p.Ser575Thr) | |
19 | g.18784987C>T | CA404878283 | COMP | c.1823G>A (p.Ser608Asn) c.1664G>A (p.Ser555Asn) c.1724G>A (p.Ser575Asn) | |
19 | g.18784988T>A | CA404878293 | COMP | c.1822A>T (p.Ser608Cys) c.1663A>T (p.Ser555Cys) c.1723A>T (p.Ser575Cys) | |
19 | g.18784988T>C | CA404878295 | COMP | c.1822A>G (p.Ser608Gly) c.1663A>G (p.Ser555Gly) c.1723A>G (p.Ser575Gly) | |
19 | g.18784988T>G | CA404878297 | COMP | c.1822A>C (p.Ser608Arg) c.1663A>C (p.Ser555Arg) c.1723A>C (p.Ser575Arg) | |
19 | g.18784989G>A | CA506052373 | COMP | c.1821C>T (p.Ser607=) c.1662C>T (p.Ser554=) c.1722C>T (p.Ser574=) | |
19 | g.18784989G>C | CA506052374 | COMP | c.1821C>G (p.Ser607=) c.1662C>G (p.Ser554=) c.1722C>G (p.Ser574=) | |
19 | g.18784989G>T | CA506052375 | COMP | c.1821C>A (p.Ser607=) c.1662C>A (p.Ser554=) c.1722C>A (p.Ser574=) | |
19 | g.18784990G>A | CA404878302 | COMP | c.1820C>T (p.Ser607Phe) c.1661C>T (p.Ser554Phe) c.1721C>T (p.Ser574Phe) | |
19 | g.18784990G>C | CA404878307 | COMP | c.1820C>G (p.Ser607Cys) c.1661C>G (p.Ser554Cys) c.1721C>G (p.Ser574Cys) | |
19 | g.18784990G>T | CA404878304 | COMP | c.1820C>A (p.Ser607Tyr) c.1661C>A (p.Ser554Tyr) c.1721C>A (p.Ser574Tyr) | |
19 | g.18784991_18784992del | CA2583621577 | COMP | c.1819_1820del (p.Ser607GlnfsTer?) c.1660_1661del (p.Ser554GlnfsTer?) c.1720_1721del (p.Ser574GlnfsTer?) | gnomAD v4 |
19 | g.18784991A>C | CA404878311 | COMP | c.1819T>G (p.Ser607Ala) c.1660T>G (p.Ser554Ala) c.1720T>G (p.Ser574Ala) | |
19 | g.18784991A>G | CA404878320 | COMP | c.1819T>C (p.Ser607Pro) c.1660T>C (p.Ser554Pro) c.1720T>C (p.Ser574Pro) | |
19 | g.18784991A>T | CA404878317 | COMP | c.1819T>A (p.Ser607Thr) c.1660T>A (p.Ser554Thr) c.1720T>A (p.Ser574Thr) | |
19 | g.18784992G>A | CA506052376 | COMP | c.1818C>T (p.Ser606=) c.1659C>T (p.Ser553=) c.1719C>T (p.Ser573=) | |
19 | g.18784992G>C | CA404878321 | COMP | c.1818C>G (p.Ser606Arg) c.1659C>G (p.Ser553Arg) c.1719C>G (p.Ser573Arg) | |
19 | g.18784992G= | CA2326524909 | COMP | c.1818C= (p.Ser606=) c.1659C= (p.Ser553=) c.1719C= (p.Ser573=) | |
19 | g.18784992G>T | CA404878322 | COMP | c.1818C>A (p.Ser606Arg) c.1659C>A (p.Ser553Arg) c.1719C>A (p.Ser573Arg) | |
19 | g.18784993C>A | CA404878325 | COMP | c.1817G>T (p.Ser606Ile) c.1658G>T (p.Ser553Ile) c.1718G>T (p.Ser573Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18784993C= | CA2326524910 | COMP | c.1817G= (p.Ser606=) c.1658G= (p.Ser553=) c.1718G= (p.Ser573=) | |
19 | g.18784993C>G | CA404878354 | COMP | c.1817G>C (p.Ser606Thr) c.1658G>C (p.Ser553Thr) c.1718G>C (p.Ser573Thr) | |
19 | g.18784993C>T | CA404878339 | COMP | c.1817G>A (p.Ser606Asn) c.1658G>A (p.Ser553Asn) c.1718G>A (p.Ser573Asn) | |
19 | g.18784993dup | CA632626796 | COMP | c.1817dup (p.Ser606ArgfsTer?) c.1658dup (p.Ser553ArgfsTer?) c.1718dup (p.Ser573ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18784994T>A | CA404878358 | COMP | c.1816A>T (p.Ser606Cys) c.1657A>T (p.Ser553Cys) c.1717A>T (p.Ser573Cys) | gnomAD v4 |
19 | g.18784994T>C | CA404878359 | COMP | c.1816A>G (p.Ser606Gly) c.1657A>G (p.Ser553Gly) c.1717A>G (p.Ser573Gly) | |
19 | g.18784994T>G | CA404878360 | COMP | c.1816A>C (p.Ser606Arg) c.1657A>C (p.Ser553Arg) c.1717A>C (p.Ser573Arg) | |
19 | g.18784995G>A | CA506052379 | COMP | c.1815C>T (p.Asp605=) c.1656C>T (p.Asp552=) c.1716C>T (p.Asp572=) | gnomAD v4 |
19 | g.18784995G>C | CA404878365 | COMP | c.1815C>G (p.Asp605Glu) c.1656C>G (p.Asp552Glu) c.1716C>G (p.Asp572Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18784995G= | CA2326524911 | COMP | c.1815C= (p.Asp605=) c.1656C= (p.Asp552=) c.1716C= (p.Asp572=) | |
19 | g.18784995G>T | CA404878367 | COMP | c.1815C>A (p.Asp605Glu) c.1656C>A (p.Asp552Glu) c.1716C>A (p.Asp572Glu) | |
19 | g.18784996T>A | CA404878370 | COMP | c.1814A>T (p.Asp605Val) c.1655A>T (p.Asp552Val) c.1715A>T (p.Asp572Val) | |
19 | g.18784996T>C | CA404878373 | COMP | c.1814A>G (p.Asp605Gly) c.1655A>G (p.Asp552Gly) c.1715A>G (p.Asp572Gly) | |
19 | g.18784996T>G | CA404878377 | COMP | c.1814A>C (p.Asp605Ala) c.1655A>C (p.Asp552Ala) c.1715A>C (p.Asp572Ala) | |
19 | g.18784997C>A | CA404878380 | COMP | c.1813G>T (p.Asp605Tyr) c.1654G>T (p.Asp552Tyr) c.1714G>T (p.Asp572Tyr) | |
19 | g.18784997C= | CA2326524912 | COMP | c.1813G= (p.Asp605=) c.1654G= (p.Asp552=) c.1714G= (p.Asp572=) | |
19 | g.18784997C>G | CA404878381 | COMP | c.1813G>C (p.Asp605His) c.1654G>C (p.Asp552His) c.1714G>C (p.Asp572His) | |
19 | g.18784997C>T | CA344888 | COMP | c.1813G>A (p.Asp605Asn) c.1654G>A (p.Asp552Asn) c.1714G>A (p.Asp572Asn) | ClinVar dbSNP |
19 | g.18784998C>A | CA404878400 | COMP | c.1812G>T (p.Gln604His) c.1653G>T (p.Gln551His) c.1713G>T (p.Gln571His) | |
19 | g.18784998C>G | CA404878383 | COMP | c.1812G>C (p.Gln604His) c.1653G>C (p.Gln551His) c.1713G>C (p.Gln571His) | |
19 | g.18784998C>T | CA506052380 | COMP | c.1812G>A (p.Gln604=) c.1653G>A (p.Gln551=) c.1713G>A (p.Gln571=) | |
19 | g.18784999T>A | CA404878409 | COMP | c.1811A>T (p.Gln604Leu) c.1652A>T (p.Gln551Leu) c.1712A>T (p.Gln571Leu) | |
19 | g.18784999T>C | CA404878412 | COMP | c.1811A>G (p.Gln604Arg) c.1652A>G (p.Gln551Arg) c.1712A>G (p.Gln571Arg) | ClinVar dbSNP |
19 | g.18784999T>G | CA404878417 | COMP | c.1811A>C (p.Gln604Pro) c.1652A>C (p.Gln551Pro) c.1712A>C (p.Gln571Pro) | dbSNP |
19 | g.18784999T= | CA2326524913 | COMP | c.1811A= (p.Gln604=) c.1652A= (p.Gln551=) c.1712A= (p.Gln571=) | |
19 | g.18785000G>A | CA404878418 | COMP | c.1810C>T (p.Gln604Ter) c.1651C>T (p.Gln551Ter) c.1711C>T (p.Gln571Ter) | |
19 | g.18785000G>C | CA404878422 | COMP | c.1810C>G (p.Gln604Glu) c.1651C>G (p.Gln551Glu) c.1711C>G (p.Gln571Glu) | |
19 | g.18785000G>T | CA404878429 | COMP | c.1810C>A (p.Gln604Lys) c.1651C>A (p.Gln551Lys) c.1711C>A (p.Gln571Lys) | |
19 | g.18785001del | CA2583621578 | COMP | c.1810del (p.Gln604ArgfsTer?) c.1651del (p.Gln551ArgfsTer?) c.1711del (p.Gln571ArgfsTer?) | gnomAD v4 |
19 | g.18785001G>A | CA506052381 | COMP | c.1809C>T (p.Tyr603=) c.1650C>T (p.Tyr550=) c.1710C>T (p.Tyr570=) | |
19 | g.18785001G>C | CA404878437 | COMP | c.1809C>G (p.Tyr603Ter) c.1650C>G (p.Tyr550Ter) c.1710C>G (p.Tyr570Ter) | |
19 | g.18785001G>T | CA404878438 | COMP | c.1809C>A (p.Tyr603Ter) c.1650C>A (p.Tyr550Ter) c.1710C>A (p.Tyr570Ter) | |
19 | g.18785002T>A | CA404878442 | COMP | c.1808A>T (p.Tyr603Phe) c.1649A>T (p.Tyr550Phe) c.1709A>T (p.Tyr570Phe) | |
19 | g.18785002T>C | CA404878450 | COMP | c.1808A>G (p.Tyr603Cys) c.1649A>G (p.Tyr550Cys) c.1709A>G (p.Tyr570Cys) | |
19 | g.18785002T>G | CA404878453 | COMP | c.1808A>C (p.Tyr603Ser) c.1649A>C (p.Tyr550Ser) c.1709A>C (p.Tyr570Ser) | |
19 | g.18785003A= | CA2326524914 | COMP | c.1807T= (p.Tyr603=) c.1648T= (p.Tyr550=) c.1708T= (p.Tyr570=) | |
19 | g.18785003A>C | CA404878467 | COMP | c.1807T>G (p.Tyr603Asp) c.1648T>G (p.Tyr550Asp) c.1708T>G (p.Tyr570Asp) | |
19 | g.18785003A>G | CA404878462 | COMP | c.1807T>C (p.Tyr603His) c.1648T>C (p.Tyr550His) c.1708T>C (p.Tyr570His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785003A>T | CA404878459 | COMP | c.1807T>A (p.Tyr603Asn) c.1648T>A (p.Tyr550Asn) c.1708T>A (p.Tyr570Asn) | |
19 | g.18785004G>A | CA9316265 | COMP | c.1806C>T (p.Gly602=) c.1647C>T (p.Gly549=) c.1707C>T (p.Gly569=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785004G>C | CA506052383 | COMP | c.1806C>G (p.Gly602=) c.1647C>G (p.Gly549=) c.1707C>G (p.Gly569=) | |
19 | g.18785004G= | CA2326524915 | COMP | c.1806C= (p.Gly602=) c.1647C= (p.Gly549=) c.1707C= (p.Gly569=) | |
19 | g.18785004G>T | CA506052382 | COMP | c.1806C>A (p.Gly602=) c.1647C>A (p.Gly549=) c.1707C>A (p.Gly569=) | |
19 | g.18785005C>A | CA404878469 | COMP | c.1805G>T (p.Gly602Val) c.1646G>T (p.Gly549Val) c.1706G>T (p.Gly569Val) | |
19 | g.18785005C>G | CA404878472 | COMP | c.1805G>C (p.Gly602Ala) c.1646G>C (p.Gly549Ala) c.1706G>C (p.Gly569Ala) | |
19 | g.18785005C>T | CA404878483 | COMP | c.1805G>A (p.Gly602Asp) c.1646G>A (p.Gly549Asp) c.1706G>A (p.Gly569Asp) | gnomAD v4 |
19 | g.18785006C>A | CA404878489 | COMP | c.1804G>T (p.Gly602Cys) c.1645G>T (p.Gly549Cys) c.1705G>T (p.Gly569Cys) | |
19 | g.18785006C>G | CA404878493 | COMP | c.1804G>C (p.Gly602Arg) c.1645G>C (p.Gly549Arg) c.1705G>C (p.Gly569Arg) | |
19 | g.18785006C>T | CA404878501 | COMP | c.1804G>A (p.Gly602Ser) c.1645G>A (p.Gly549Ser) c.1705G>A (p.Gly569Ser) | |
19 | g.18785007A= | CA2326524916 | COMP | c.1803T= (p.Phe601=) c.1644T= (p.Phe548=) c.1704T= (p.Phe568=) | |
19 | g.18785007A>C | CA404878502 | COMP | c.1803T>G (p.Phe601Leu) c.1644T>G (p.Phe548Leu) c.1704T>G (p.Phe568Leu) | |
19 | g.18785007A>G | CA9316266 | COMP | c.1803T>C (p.Phe601=) c.1644T>C (p.Phe548=) c.1704T>C (p.Phe568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785007A>T | CA404878503 | COMP | c.1803T>A (p.Phe601Leu) c.1644T>A (p.Phe548Leu) c.1704T>A (p.Phe568Leu) | COSMIC |
19 | g.18785008A>C | CA404878507 | COMP | c.1802T>G (p.Phe601Cys) c.1643T>G (p.Phe548Cys) c.1703T>G (p.Phe568Cys) | |
19 | g.18785008A>G | CA404878509 | COMP | c.1802T>C (p.Phe601Ser) c.1643T>C (p.Phe548Ser) c.1703T>C (p.Phe568Ser) | gnomAD v4 |
19 | g.18785008A>T | CA404878526 | COMP | c.1802T>A (p.Phe601Tyr) c.1643T>A (p.Phe548Tyr) c.1703T>A (p.Phe568Tyr) | |
19 | g.18785009A>C | CA404878541 | COMP | c.1801T>G (p.Phe601Val) c.1642T>G (p.Phe548Val) c.1702T>G (p.Phe568Val) | |
19 | g.18785009A>G | CA404878566 | COMP | c.1801T>C (p.Phe601Leu) c.1642T>C (p.Phe548Leu) c.1702T>C (p.Phe568Leu) | |
19 | g.18785009A>T | CA404878562 | COMP | c.1801T>A (p.Phe601Ile) c.1642T>A (p.Phe548Ile) c.1702T>A (p.Phe568Ile) | |
19 | g.18785010G>A | CA9316267 | COMP | c.1800C>T (p.Ile600=) c.1641C>T (p.Ile547=) c.1701C>T (p.Ile567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785010G>C | CA306253652 | COMP | c.1800C>G (p.Ile600Met) c.1641C>G (p.Ile547Met) c.1701C>G (p.Ile567Met) | dbSNP |
19 | g.18785010G= | CA2326524917 | COMP | c.1800C= (p.Ile600=) c.1641C= (p.Ile547=) c.1701C= (p.Ile567=) | |
19 | g.18785010G>T | CA506052385 | COMP | c.1800C>A (p.Ile600=) c.1641C>A (p.Ile547=) c.1701C>A (p.Ile567=) | |
19 | g.18785011A>C | CA404878579 | COMP | c.1799T>G (p.Ile600Ser) c.1640T>G (p.Ile547Ser) c.1700T>G (p.Ile567Ser) | |
19 | g.18785011A>G | CA404878584 | COMP | c.1799T>C (p.Ile600Thr) c.1640T>C (p.Ile547Thr) c.1700T>C (p.Ile567Thr) | dbSNP gnomAD v4 |
19 | g.18785011A>T | CA404878585 | COMP | c.1799T>A (p.Ile600Asn) c.1640T>A (p.Ile547Asn) c.1700T>A (p.Ile567Asn) | |
19 | g.18785012T>A | CA404878586 | COMP | c.1798A>T (p.Ile600Phe) c.1639A>T (p.Ile547Phe) c.1699A>T (p.Ile567Phe) | |
19 | g.18785012T>C | CA404878587 | COMP | c.1798A>G (p.Ile600Val) c.1639A>G (p.Ile547Val) c.1699A>G (p.Ile567Val) | |
19 | g.18785012T>G | CA404878589 | COMP | c.1798A>C (p.Ile600Leu) c.1639A>C (p.Ile547Leu) c.1699A>C (p.Ile567Leu) | |
19 | g.18785013G>A | CA506052389 | COMP | c.1797C>T (p.Phe599=) c.1638C>T (p.Phe546=) c.1698C>T (p.Phe566=) | |
19 | g.18785013G>C | CA404878595 | COMP | c.1797C>G (p.Phe599Leu) c.1638C>G (p.Phe546Leu) c.1698C>G (p.Phe566Leu) | |
19 | g.18785013G>T | CA404878610 | COMP | c.1797C>A (p.Phe599Leu) c.1638C>A (p.Phe546Leu) c.1698C>A (p.Phe566Leu) | |
19 | g.18785014A>C | CA404878616 | COMP | c.1796T>G (p.Phe599Cys) c.1637T>G (p.Phe546Cys) c.1697T>G (p.Phe566Cys) | |
19 | g.18785014A>G | CA404878620 | COMP | c.1796T>C (p.Phe599Ser) c.1637T>C (p.Phe546Ser) c.1697T>C (p.Phe566Ser) | |
19 | g.18785014A>T | CA404878614 | COMP | c.1796T>A (p.Phe599Tyr) c.1637T>A (p.Phe546Tyr) c.1697T>A (p.Phe566Tyr) | |
19 | g.18785015A>C | CA404878624 | COMP | c.1795T>G (p.Phe599Val) c.1636T>G (p.Phe546Val) c.1696T>G (p.Phe566Val) | |
19 | g.18785015A>G | CA404878625 | COMP | c.1795T>C (p.Phe599Leu) c.1636T>C (p.Phe546Leu) c.1696T>C (p.Phe566Leu) | |
19 | g.18785015A>T | CA404878626 | COMP | c.1795T>A (p.Phe599Ile) c.1636T>A (p.Phe546Ile) c.1696T>A (p.Phe566Ile) | |
19 | g.18785016G>A | CA506052394 | COMP | c.1794C>T (p.Gly598=) c.1635C>T (p.Gly545=) c.1695C>T (p.Gly565=) | gnomAD v4 |
19 | g.18785016G>C | CA506052395 | COMP | c.1794C>G (p.Gly598=) c.1635C>G (p.Gly545=) c.1695C>G (p.Gly565=) | gnomAD v4 |
19 | g.18785016G>T | CA506052396 | COMP | c.1794C>A (p.Gly598=) c.1635C>A (p.Gly545=) c.1695C>A (p.Gly565=) | |
19 | g.18785017C>A | CA404878629 | COMP | c.1793G>T (p.Gly598Val) c.1634G>T (p.Gly545Val) c.1694G>T (p.Gly565Val) | |
19 | g.18785017C>G | CA404878632 | COMP | c.1793G>C (p.Gly598Ala) c.1634G>C (p.Gly545Ala) c.1694G>C (p.Gly565Ala) | |
19 | g.18785017C>T | CA404878636 | COMP | c.1793G>A (p.Gly598Asp) c.1634G>A (p.Gly545Asp) c.1694G>A (p.Gly565Asp) | ClinVar |
19 | g.18785019dup | CA2583621579 | COMP | c.1793dup (p.Phe599LeufsTer?) c.1634dup (p.Phe546LeufsTer?) c.1694dup (p.Phe566LeufsTer?) | gnomAD v4 |
19 | g.18785018C>A | CA404878647 | COMP | c.1792G>T (p.Gly598Cys) c.1633G>T (p.Gly545Cys) c.1693G>T (p.Gly565Cys) | |
19 | g.18785018C= | CA2326524918 | COMP | c.1792G= (p.Gly598=) c.1633G= (p.Gly545=) c.1693G= (p.Gly565=) | |
19 | g.18785018C>G | CA404878651 | COMP | c.1792G>C (p.Gly598Arg) c.1633G>C (p.Gly545Arg) c.1693G>C (p.Gly565Arg) | |
19 | g.18785018C>T | CA404878659 | COMP | c.1792G>A (p.Gly598Ser) c.1633G>A (p.Gly545Ser) c.1693G>A (p.Gly565Ser) | dbSNP |
19 | g.18785019C>A | CA506052400 | COMP | c.1791G>T (p.Ala597=) c.1632G>T (p.Ala544=) c.1692G>T (p.Ala564=) | gnomAD v4 |
19 | g.18785019C= | CA2326524919 | COMP | c.1791G= (p.Ala597=) c.1632G= (p.Ala544=) c.1692G= (p.Ala564=) | |
19 | g.18785019C>G | CA506052401 | COMP | c.1791G>C (p.Ala597=) c.1632G>C (p.Ala544=) c.1692G>C (p.Ala564=) | |
19 | g.18785019C>T | CA506052405 | COMP | c.1791G>A (p.Ala597=) c.1632G>A (p.Ala544=) c.1692G>A (p.Ala564=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18785020G>A | CA404878663 | COMP | c.1790C>T (p.Ala597Val) c.1631C>T (p.Ala544Val) c.1691C>T (p.Ala564Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18785020G>C | CA404878669 | COMP | c.1790C>G (p.Ala597Gly) c.1631C>G (p.Ala544Gly) c.1691C>G (p.Ala564Gly) | |
19 | g.18785020G= | CA2326524920 | COMP | c.1790C= (p.Ala597=) c.1631C= (p.Ala544=) c.1691C= (p.Ala564=) | |
19 | g.18785020G>T | CA404878671 | COMP | c.1790C>A (p.Ala597Glu) c.1631C>A (p.Ala544Glu) c.1691C>A (p.Ala564Glu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18785021C>A | CA404878689 | COMP | c.1789G>T (p.Ala597Ser) c.1630G>T (p.Ala544Ser) c.1690G>T (p.Ala564Ser) | |
19 | g.18785021C>G | CA404878687 | COMP | c.1789G>C (p.Ala597Pro) c.1630G>C (p.Ala544Pro) c.1690G>C (p.Ala564Pro) | |
19 | g.18785021C>T | CA404878680 | COMP | c.1789G>A (p.Ala597Thr) c.1630G>A (p.Ala544Thr) c.1690G>A (p.Ala564Thr) | gnomAD v4 |
19 | g.18785022A= | CA2326524921 | COMP | c.1788T= (p.Tyr596=) c.1629T= (p.Tyr543=) c.1689T= (p.Tyr563=) | |
19 | g.18785022A>C | CA404878693 | COMP | c.1788T>G (p.Tyr596Ter) c.1629T>G (p.Tyr543Ter) c.1689T>G (p.Tyr563Ter) | gnomAD v4 |
19 | g.18785022A>G | CA9316268 | COMP | c.1788T>C (p.Tyr596=) c.1629T>C (p.Tyr543=) c.1689T>C (p.Tyr563=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18785022A>T | CA404878711 | COMP | c.1788T>A (p.Tyr596Ter) c.1629T>A (p.Tyr543Ter) c.1689T>A (p.Tyr563Ter) | |
19 | g.18785023T>A | CA404878716 | COMP | c.1787A>T (p.Tyr596Phe) c.1628A>T (p.Tyr543Phe) c.1688A>T (p.Tyr563Phe) | |
19 | g.18785023T>C | CA404878717 | COMP | c.1787A>G (p.Tyr596Cys) c.1628A>G (p.Tyr543Cys) c.1688A>G (p.Tyr563Cys) | |
19 | g.18785023T>G | CA404878718 | COMP | c.1787A>C (p.Tyr596Ser) c.1628A>C (p.Tyr543Ser) c.1688A>C (p.Tyr563Ser) | |
19 | g.18785024A>C | CA404878723 | COMP | c.1786T>G (p.Tyr596Asp) c.1627T>G (p.Tyr543Asp) c.1687T>G (p.Tyr563Asp) | gnomAD v4 |
19 | g.18785024A>G | CA404878730 | COMP | c.1786T>C (p.Tyr596His) c.1627T>C (p.Tyr543His) c.1687T>C (p.Tyr563His) | gnomAD v4 |
19 | g.18785024A>T | CA404878736 | COMP | c.1786T>A (p.Tyr596Asn) c.1627T>A (p.Tyr543Asn) c.1687T>A (p.Tyr563Asn) |