Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18784940C>ACA404877964COMPc.1870G>T (p.Ala624Ser)
c.1711G>T (p.Ala571Ser)
c.1771G>T (p.Ala591Ser)
19g.18784940C>GCA404877966COMPc.1870G>C (p.Ala624Pro)
c.1711G>C (p.Ala571Pro)
c.1771G>C (p.Ala591Pro)
19g.18784940C>TCA404877969COMPc.1870G>A (p.Ala624Thr)
c.1711G>A (p.Ala571Thr)
c.1771G>A (p.Ala591Thr)
 ClinVar dbSNP
19g.18784941_18784942insCCCCA2741617857COMPc.1870_1871insGGG (p.Gln623_Ala624insGly)
c.1711_1712insGGG (p.Gln570_Ala571insGly)
c.1771_1772insGGG (p.Gln590_Ala591insGly)
19g.18784941_18784942insCCCCCCA306253542COMPc.1870_1871insGGGGG (p.Ala624GlyfsTer19)
c.1711_1712insGGGGG (p.Ala571GlyfsTer19)
c.1771_1772insGGGGG (p.Ala591GlyfsTer19)
 dbSNP
19g.18784941C>ACA404877972COMPc.1869G>T (p.Gln623His)
c.1710G>T (p.Gln570His)
c.1770G>T (p.Gln590His)
19g.18784941C>GCA404877975COMPc.1869G>C (p.Gln623His)
c.1710G>C (p.Gln570His)
c.1770G>C (p.Gln590His)
19g.18784941C>TCA506052359COMPc.1869G>A (p.Gln623=)
c.1710G>A (p.Gln570=)
c.1770G>A (p.Gln590=)
19g.18784942T>ACA404877985COMPc.1868A>T (p.Gln623Leu)
c.1709A>T (p.Gln570Leu)
c.1769A>T (p.Gln590Leu)
19g.18784942T>CCA404877988COMPc.1868A>G (p.Gln623Arg)
c.1709A>G (p.Gln570Arg)
c.1769A>G (p.Gln590Arg)
19g.18784942T>GCA404877982COMPc.1868A>C (p.Gln623Pro)
c.1709A>C (p.Gln570Pro)
c.1769A>C (p.Gln590Pro)
 gnomAD v4
19g.18784943G>ACA404877991COMPc.1867C>T (p.Gln623Ter)
c.1708C>T (p.Gln570Ter)
c.1768C>T (p.Gln590Ter)
 gnomAD v4
19g.18784943G>CCA404877997COMPc.1867C>G (p.Gln623Glu)
c.1708C>G (p.Gln570Glu)
c.1768C>G (p.Gln590Glu)
19g.18784943G>TCA404877994COMPc.1867C>A (p.Gln623Lys)
c.1708C>A (p.Gln570Lys)
c.1768C>A (p.Gln590Lys)
19g.18784944C>ACA404878002COMPc.1866G>T (p.Trp622Cys)
c.1707G>T (p.Trp569Cys)
c.1767G>T (p.Trp589Cys)
19g.18784944C>GCA404878004COMPc.1866G>C (p.Trp622Cys)
c.1707G>C (p.Trp569Cys)
c.1767G>C (p.Trp589Cys)
19g.18784944C>TCA404878006COMPc.1866G>A (p.Trp622Ter)
c.1707G>A (p.Trp569Ter)
c.1767G>A (p.Trp589Ter)
19g.18784945C>ACA404878008COMPc.1865G>T (p.Trp622Leu)
c.1706G>T (p.Trp569Leu)
c.1766G>T (p.Trp589Leu)
19g.18784945C>GCA404878010COMPc.1865G>C (p.Trp622Ser)
c.1706G>C (p.Trp569Ser)
c.1766G>C (p.Trp589Ser)
19g.18784945C>TCA404878013COMPc.1865G>A (p.Trp622Ter)
c.1706G>A (p.Trp569Ter)
c.1766G>A (p.Trp589Ter)
19g.18784946A>CCA404878017COMPc.1864T>G (p.Trp622Gly)
c.1705T>G (p.Trp569Gly)
c.1765T>G (p.Trp589Gly)
19g.18784946A>GCA404878018COMPc.1864T>C (p.Trp622Arg)
c.1705T>C (p.Trp569Arg)
c.1765T>C (p.Trp589Arg)
19g.18784946A>TCA404878021COMPc.1864T>A (p.Trp622Arg)
c.1705T>A (p.Trp569Arg)
c.1765T>A (p.Trp589Arg)
19g.18784947A=CA2326524889COMPc.1863T= (p.Tyr621=)
c.1704T= (p.Tyr568=)
c.1764T= (p.Tyr588=)
19g.18784947A>CCA404878023COMPc.1863T>G (p.Tyr621Ter)
c.1704T>G (p.Tyr568Ter)
c.1764T>G (p.Tyr588Ter)
19g.18784947A>GCA506052360COMPc.1863T>C (p.Tyr621=)
c.1704T>C (p.Tyr568=)
c.1764T>C (p.Tyr588=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18784947A>TCA404878026COMPc.1863T>A (p.Tyr621Ter)
c.1704T>A (p.Tyr568Ter)
c.1764T>A (p.Tyr588Ter)
19g.18784948T>ACA404878033COMPc.1862A>T (p.Tyr621Phe)
c.1703A>T (p.Tyr568Phe)
c.1763A>T (p.Tyr588Phe)
19g.18784948T>CCA404878031COMPc.1862A>G (p.Tyr621Cys)
c.1703A>G (p.Tyr568Cys)
c.1763A>G (p.Tyr588Cys)
19g.18784948T>GCA404878029COMPc.1862A>C (p.Tyr621Ser)
c.1703A>C (p.Tyr568Ser)
c.1763A>C (p.Tyr588Ser)
19g.18784949A>CCA404878036COMPc.1861T>G (p.Tyr621Asp)
c.1702T>G (p.Tyr568Asp)
c.1762T>G (p.Tyr588Asp)
19g.18784949A>GCA404878038COMPc.1861T>C (p.Tyr621His)
c.1702T>C (p.Tyr568His)
c.1762T>C (p.Tyr588His)
 gnomAD v3 gnomAD v4
19g.18784949A>TCA404878041COMPc.1861T>A (p.Tyr621Asn)
c.1702T>A (p.Tyr568Asn)
c.1762T>A (p.Tyr588Asn)
19g.18784950delCA2583621575COMPc.1860del (p.Tyr621IlefsTer20)
c.1701del (p.Tyr568IlefsTer20)
c.1761del (p.Tyr588IlefsTer20)
 gnomAD v4
19g.18784950C>ACA506052362COMPc.1860G>T (p.Thr620=)
c.1701G>T (p.Thr567=)
c.1761G>T (p.Thr587=)
19g.18784950C=CA2326524890COMPc.1860G= (p.Thr620=)
c.1701G= (p.Thr567=)
c.1761G= (p.Thr587=)
19g.18784950C>GCA506052361COMPc.1860G>C (p.Thr620=)
c.1701G>C (p.Thr567=)
c.1761G>C (p.Thr587=)
 gnomAD v4
19g.18784950C>TCA9316257COMPc.1860G>A (p.Thr620=)
c.1701G>A (p.Thr567=)
c.1761G>A (p.Thr587=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784951G>ACA9316258COMPc.1859C>T (p.Thr620Met)
c.1700C>T (p.Thr567Met)
c.1760C>T (p.Thr587Met)
 dbSNP ExAC gnomAD v2
19g.18784951G>CCA404878046COMPc.1859C>G (p.Thr620Arg)
c.1700C>G (p.Thr567Arg)
c.1760C>G (p.Thr587Arg)
 gnomAD v4
19g.18784951G=CA2326524891COMPc.1859C= (p.Thr620=)
c.1700C= (p.Thr567=)
c.1760C= (p.Thr587=)
19g.18784951G>TCA404878049COMPc.1859C>A (p.Thr620Lys)
c.1700C>A (p.Thr567Lys)
c.1760C>A (p.Thr587Lys)
19g.18784952T>ACA404878053COMPc.1858A>T (p.Thr620Ser)
c.1699A>T (p.Thr567Ser)
c.1759A>T (p.Thr587Ser)
19g.18784952T>CCA404878054COMPc.1858A>G (p.Thr620Ala)
c.1699A>G (p.Thr567Ala)
c.1759A>G (p.Thr587Ala)
19g.18784952T>GCA404878057COMPc.1858A>C (p.Thr620Pro)
c.1699A>C (p.Thr567Pro)
c.1759A>C (p.Thr587Pro)
19g.18784953T>ACA404878060COMPc.1857A>T (p.Gln619His)
c.1698A>T (p.Gln566His)
c.1758A>T (p.Gln586His)
19g.18784953T>CCA506052363COMPc.1857A>G (p.Gln619=)
c.1698A>G (p.Gln566=)
c.1758A>G (p.Gln586=)
19g.18784953T>GCA404878061COMPc.1857A>C (p.Gln619His)
c.1698A>C (p.Gln566His)
c.1758A>C (p.Gln586His)
19g.18784954T>ACA404878069COMPc.1856A>T (p.Gln619Leu)
c.1697A>T (p.Gln566Leu)
c.1757A>T (p.Gln586Leu)
19g.18784954T>CCA404878067COMPc.1856A>G (p.Gln619Arg)
c.1697A>G (p.Gln566Arg)
c.1757A>G (p.Gln586Arg)
19g.18784954T>GCA404878064COMPc.1856A>C (p.Gln619Pro)
c.1697A>C (p.Gln566Pro)
c.1757A>C (p.Gln586Pro)
19g.18784955G>ACA404878077COMPc.1855C>T (p.Gln619Ter)
c.1696C>T (p.Gln566Ter)
c.1756C>T (p.Gln586Ter)
19g.18784955G>CCA404878073COMPc.1855C>G (p.Gln619Glu)
c.1696C>G (p.Gln566Glu)
c.1756C>G (p.Gln586Glu)
19g.18784955G>TCA404878076COMPc.1855C>A (p.Gln619Lys)
c.1696C>A (p.Gln566Lys)
c.1756C>A (p.Gln586Lys)
19g.18784955dupCA2583621576COMPc.1855dup (p.Gln619ProfsTer?)
c.1696dup (p.Gln566ProfsTer?)
c.1756dup (p.Gln586ProfsTer?)
 gnomAD v4
19g.18784956C>ACA404878080COMPc.1854G>T (p.Glu618Asp)
c.1695G>T (p.Glu565Asp)
c.1755G>T (p.Glu585Asp)
19g.18784956C>GCA404878083COMPc.1854G>C (p.Glu618Asp)
c.1695G>C (p.Glu565Asp)
c.1755G>C (p.Glu585Asp)
 ClinVar
19g.18784956C>TCA506052364COMPc.1854G>A (p.Glu618=)
c.1695G>A (p.Glu565=)
c.1755G>A (p.Glu585=)
 gnomAD v4
19g.18784957T>ACA404878085COMPc.1853A>T (p.Glu618Val)
c.1694A>T (p.Glu565Val)
c.1754A>T (p.Glu585Val)
19g.18784957T>CCA404878087COMPc.1853A>G (p.Glu618Gly)
c.1694A>G (p.Glu565Gly)
c.1754A>G (p.Glu585Gly)
19g.18784957T>GCA404878089COMPc.1853A>C (p.Glu618Ala)
c.1694A>C (p.Glu565Ala)
c.1754A>C (p.Glu585Ala)
19g.18784958C>ACA404878093COMPc.1852G>T (p.Glu618Ter)
c.1693G>T (p.Glu565Ter)
c.1753G>T (p.Glu585Ter)
19g.18784958C>GCA404878094COMPc.1852G>C (p.Glu618Gln)
c.1693G>C (p.Glu565Gln)
c.1753G>C (p.Glu585Gln)
19g.18784958C>TCA404878097COMPc.1852G>A (p.Glu618Lys)
c.1693G>A (p.Glu565Lys)
c.1753G>A (p.Glu585Lys)
 gnomAD v4
19g.18784959C>ACA404878100COMPc.1851G>T (p.Met617Ile)
c.1692G>T (p.Met564Ile)
c.1752G>T (p.Met584Ile)
19g.18784959C=CA2326524892COMPc.1851G= (p.Met617=)
c.1692G= (p.Met564=)
c.1752G= (p.Met584=)
19g.18784959C>GCA404878102COMPc.1851G>C (p.Met617Ile)
c.1692G>C (p.Met564Ile)
c.1752G>C (p.Met584Ile)
19g.18784959C>TCA306253563COMPc.1851G>A (p.Met617Ile)
c.1692G>A (p.Met564Ile)
c.1752G>A (p.Met584Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.18784960A=CA2326524893COMPc.1850T= (p.Met617=)
c.1691T= (p.Met564=)
c.1751T= (p.Met584=)
19g.18784960A>CCA404878111COMPc.1850T>G (p.Met617Arg)
c.1691T>G (p.Met564Arg)
c.1751T>G (p.Met584Arg)
19g.18784960A>GCA9316259COMPc.1850T>C (p.Met617Thr)
c.1691T>C (p.Met564Thr)
c.1751T>C (p.Met584Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784960A>TCA404878108COMPc.1850T>A (p.Met617Lys)
c.1691T>A (p.Met564Lys)
c.1751T>A (p.Met584Lys)
19g.18784961T>ACA404878113COMPc.1849A>T (p.Met617Leu)
c.1690A>T (p.Met564Leu)
c.1750A>T (p.Met584Leu)
19g.18784961T>CCA404878115COMPc.1849A>G (p.Met617Val)
c.1690A>G (p.Met564Val)
c.1750A>G (p.Met584Val)
19g.18784961T>GCA9316260COMPc.1849A>C (p.Met617Leu)
c.1690A>C (p.Met564Leu)
c.1750A>C (p.Met584Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784961T=CA2326524894COMPc.1849A= (p.Met617=)
c.1690A= (p.Met564=)
c.1750A= (p.Met584=)
19g.18784962C>ACA404878117COMPc.1848G>T (p.Gln616His)
c.1689G>T (p.Gln563His)
c.1749G>T (p.Gln583His)
19g.18784962C>GCA404878118COMPc.1848G>C (p.Gln616His)
c.1689G>C (p.Gln563His)
c.1749G>C (p.Gln583His)
19g.18784962C>TCA506052365COMPc.1848G>A (p.Gln616=)
c.1689G>A (p.Gln563=)
c.1749G>A (p.Gln583=)
19g.18784963T>ACA404878121COMPc.1847A>T (p.Gln616Leu)
c.1688A>T (p.Gln563Leu)
c.1748A>T (p.Gln583Leu)
19g.18784963T>CCA404878122COMPc.1847A>G (p.Gln616Arg)
c.1688A>G (p.Gln563Arg)
c.1748A>G (p.Gln583Arg)
19g.18784963T>GCA404878124COMPc.1847A>C (p.Gln616Pro)
c.1688A>C (p.Gln563Pro)
c.1748A>C (p.Gln583Pro)
19g.18784964G>ACA404878127COMPc.1846C>T (p.Gln616Ter)
c.1687C>T (p.Gln563Ter)
c.1747C>T (p.Gln583Ter)
19g.18784964G>CCA404878128COMPc.1846C>G (p.Gln616Glu)
c.1687C>G (p.Gln563Glu)
c.1747C>G (p.Gln583Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18784964G=CA2326524895COMPc.1846C= (p.Gln616=)
c.1687C= (p.Gln563=)
c.1747C= (p.Gln583=)
19g.18784964G>TCA404878129COMPc.1846C>A (p.Gln616Lys)
c.1687C>A (p.Gln563Lys)
c.1747C>A (p.Gln583Lys)
19g.18784965C>ACA404878131COMPc.1845G>T (p.Lys615Asn)
c.1686G>T (p.Lys562Asn)
c.1746G>T (p.Lys582Asn)
19g.18784965C=CA2326524896COMPc.1845G= (p.Lys615=)
c.1686G= (p.Lys562=)
c.1746G= (p.Lys582=)
19g.18784965C>GCA404878133COMPc.1845G>C (p.Lys615Asn)
c.1686G>C (p.Lys562Asn)
c.1746G>C (p.Lys582Asn)
19g.18784965C>TCA506052366COMPc.1845G>A (p.Lys615=)
c.1686G>A (p.Lys562=)
c.1746G>A (p.Lys582=)
 dbSNP gnomAD v4
19g.18784966T>ACA404878137COMPc.1844A>T (p.Lys615Met)
c.1685A>T (p.Lys562Met)
c.1745A>T (p.Lys582Met)
19g.18784966T>CCA9316261COMPc.1844A>G (p.Lys615Arg)
c.1685A>G (p.Lys562Arg)
c.1745A>G (p.Lys582Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18784966T>GCA404878135COMPc.1844A>C (p.Lys615Thr)
c.1685A>C (p.Lys562Thr)
c.1745A>C (p.Lys582Thr)
19g.18784966T=CA2326524897COMPc.1844A= (p.Lys615=)
c.1685A= (p.Lys562=)
c.1745A= (p.Lys582=)
19g.18784967T>ACA404878142COMPc.1843A>T (p.Lys615Ter)
c.1684A>T (p.Lys562Ter)
c.1744A>T (p.Lys582Ter)
19g.18784967T>CCA404878145COMPc.1843A>G (p.Lys615Glu)
c.1684A>G (p.Lys562Glu)
c.1744A>G (p.Lys582Glu)
 dbSNP
19g.18784967T>GCA404878143COMPc.1843A>C (p.Lys615Gln)
c.1684A>C (p.Lys562Gln)
c.1744A>C (p.Lys582Gln)
19g.18784967T=CA2326524898COMPc.1843A= (p.Lys615=)
c.1684A= (p.Lys562=)
c.1744A= (p.Lys582=)
19g.18784968C>ACA404878148COMPc.1842G>T (p.Trp614Cys)
c.1683G>T (p.Trp561Cys)
c.1743G>T (p.Trp581Cys)
19g.18784968C>GCA404878149COMPc.1842G>C (p.Trp614Cys)
c.1683G>C (p.Trp561Cys)
c.1743G>C (p.Trp581Cys)
19g.18784968C>TCA404878151COMPc.1842G>A (p.Trp614Ter)
c.1683G>A (p.Trp561Ter)
c.1743G>A (p.Trp581Ter)
19g.18784969C>ACA404878154COMPc.1841G>T (p.Trp614Leu)
c.1682G>T (p.Trp561Leu)
c.1742G>T (p.Trp581Leu)
19g.18784969C>GCA404878155COMPc.1841G>C (p.Trp614Ser)
c.1682G>C (p.Trp561Ser)
c.1742G>C (p.Trp581Ser)
19g.18784969C>TCA404878157COMPc.1841G>A (p.Trp614Ter)
c.1682G>A (p.Trp561Ter)
c.1742G>A (p.Trp581Ter)
19g.18784970A>CCA404878159COMPc.1840T>G (p.Trp614Gly)
c.1681T>G (p.Trp561Gly)
c.1741T>G (p.Trp581Gly)
19g.18784970A>GCA404878160COMPc.1840T>C (p.Trp614Arg)
c.1681T>C (p.Trp561Arg)
c.1741T>C (p.Trp581Arg)
19g.18784970A>TCA404878162COMPc.1840T>A (p.Trp614Arg)
c.1681T>A (p.Trp561Arg)
c.1741T>A (p.Trp581Arg)
19g.18784971C>ACA404878164COMPc.1839G>T (p.Met613Ile)
c.1680G>T (p.Met560Ile)
c.1740G>T (p.Met580Ile)
19g.18784971C=CA2326524899COMPc.1839G= (p.Met613=)
c.1680G= (p.Met560=)
c.1740G= (p.Met580=)
19g.18784971C>GCA404878166COMPc.1839G>C (p.Met613Ile)
c.1680G>C (p.Met560Ile)
c.1740G>C (p.Met580Ile)
19g.18784971C>TCA404878168COMPc.1839G>A (p.Met613Ile)
c.1680G>A (p.Met560Ile)
c.1740G>A (p.Met580Ile)
 dbSNP gnomAD v2 gnomAD v4
19g.18784972A=CA2326524900COMPc.1838T= (p.Met613=)
c.1679T= (p.Met560=)
c.1739T= (p.Met580=)
19g.18784972A>CCA404878169COMPc.1838T>G (p.Met613Arg)
c.1679T>G (p.Met560Arg)
c.1739T>G (p.Met580Arg)
19g.18784972A>GCA404878171COMPc.1838T>C (p.Met613Thr)
c.1679T>C (p.Met560Thr)
c.1739T>C (p.Met580Thr)
 dbSNP
19g.18784972A>TCA404878170COMPc.1838T>A (p.Met613Lys)
c.1679T>A (p.Met560Lys)
c.1739T>A (p.Met580Lys)
19g.18784973T>ACA404878172COMPc.1837A>T (p.Met613Leu)
c.1678A>T (p.Met560Leu)
c.1738A>T (p.Met580Leu)
19g.18784973T>CCA404878173COMPc.1837A>G (p.Met613Val)
c.1678A>G (p.Met560Val)
c.1738A>G (p.Met580Val)
19g.18784973T>GCA404878174COMPc.1837A>C (p.Met613Leu)
c.1678A>C (p.Met560Leu)
c.1738A>C (p.Met580Leu)
19g.18784974G>ACA506052367COMPc.1836C>T (p.Val612=)
c.1677C>T (p.Val559=)
c.1737C>T (p.Val579=)
19g.18784974G>CCA10642486COMPc.1836C>G (p.Val612=)
c.1677C>G (p.Val559=)
c.1737C>G (p.Val579=)
 ClinVar dbSNP
19g.18784974G=CA2326524901COMPc.1836C= (p.Val612=)
c.1677C= (p.Val559=)
c.1737C= (p.Val579=)
19g.18784974G>TCA506052368COMPc.1836C>A (p.Val612=)
c.1677C>A (p.Val559=)
c.1737C>A (p.Val579=)
19g.18784975A=CA2326524902COMPc.1835T= (p.Val612=)
c.1676T= (p.Val559=)
c.1736T= (p.Val579=)
19g.18784975A>CCA404878176COMPc.1835T>G (p.Val612Gly)
c.1676T>G (p.Val559Gly)
c.1736T>G (p.Val579Gly)
 dbSNP
19g.18784975A>GCA404878179COMPc.1835T>C (p.Val612Ala)
c.1676T>C (p.Val559Ala)
c.1736T>C (p.Val579Ala)
19g.18784975A>TCA404878181COMPc.1835T>A (p.Val612Asp)
c.1676T>A (p.Val559Asp)
c.1736T>A (p.Val579Asp)
19g.18784976C>ACA404878183COMPc.1834G>T (p.Val612Phe)
c.1675G>T (p.Val559Phe)
c.1735G>T (p.Val579Phe)
19g.18784976C>GCA404878184COMPc.1834G>C (p.Val612Leu)
c.1675G>C (p.Val559Leu)
c.1735G>C (p.Val579Leu)
 gnomAD v4
19g.18784976C>TCA404878185COMPc.1834G>A (p.Val612Ile)
c.1675G>A (p.Val559Ile)
c.1735G>A (p.Val579Ile)
19g.18784977C>ACA506052369COMPc.1833G>T (p.Val611=)
c.1674G>T (p.Val558=)
c.1734G>T (p.Val578=)
19g.18784977C=CA2326524903COMPc.1833G= (p.Val611=)
c.1674G= (p.Val558=)
c.1734G= (p.Val578=)
19g.18784977C>GCA506052370COMPc.1833G>C (p.Val611=)
c.1674G>C (p.Val558=)
c.1734G>C (p.Val578=)
19g.18784977C>TCA306253618COMPc.1833G>A (p.Val611=)
c.1674G>A (p.Val558=)
c.1734G>A (p.Val578=)
 dbSNP
19g.18784978A=CA2326524904COMPc.1832T= (p.Val611=)
c.1673T= (p.Val558=)
c.1733T= (p.Val578=)
19g.18784978A>CCA404878187COMPc.1832T>G (p.Val611Gly)
c.1673T>G (p.Val558Gly)
c.1733T>G (p.Val578Gly)
19g.18784978A>GCA404878188COMPc.1832T>C (p.Val611Ala)
c.1673T>C (p.Val558Ala)
c.1733T>C (p.Val578Ala)
 dbSNP
19g.18784978A>TCA404878186COMPc.1832T>A (p.Val611Glu)
c.1673T>A (p.Val558Glu)
c.1733T>A (p.Val578Glu)
19g.18784979C>ACA404878191COMPc.1831G>T (p.Val611Leu)
c.1672G>T (p.Val558Leu)
c.1732G>T (p.Val578Leu)
19g.18784979C>GCA404878195COMPc.1831G>C (p.Val611Leu)
c.1672G>C (p.Val558Leu)
c.1732G>C (p.Val578Leu)
19g.18784979C>TCA404878198COMPc.1831G>A (p.Val611Met)
c.1672G>A (p.Val558Met)
c.1732G>A (p.Val578Met)
19g.18784980G>ACA9316262COMPc.1830C>T (p.Tyr610=)
c.1671C>T (p.Tyr557=)
c.1731C>T (p.Tyr577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784980G>CCA404878202COMPc.1830C>G (p.Tyr610Ter)
c.1671C>G (p.Tyr557Ter)
c.1731C>G (p.Tyr577Ter)
19g.18784980G=CA2326524905COMPc.1830C= (p.Tyr610=)
c.1671C= (p.Tyr557=)
c.1731C= (p.Tyr577=)
19g.18784980G>TCA404878206COMPc.1830C>A (p.Tyr610Ter)
c.1671C>A (p.Tyr557Ter)
c.1731C>A (p.Tyr577Ter)
19g.18784981T>ACA9316263COMPc.1829A>T (p.Tyr610Phe)
c.1670A>T (p.Tyr557Phe)
c.1730A>T (p.Tyr577Phe)
 dbSNP ExAC gnomAD v2
19g.18784981T>CCA404878213COMPc.1829A>G (p.Tyr610Cys)
c.1670A>G (p.Tyr557Cys)
c.1730A>G (p.Tyr577Cys)
 ClinVar dbSNP
19g.18784981T>GCA404878217COMPc.1829A>C (p.Tyr610Ser)
c.1670A>C (p.Tyr557Ser)
c.1730A>C (p.Tyr577Ser)
19g.18784981T=CA2326524906COMPc.1829A= (p.Tyr610=)
c.1670A= (p.Tyr557=)
c.1730A= (p.Tyr577=)
19g.18784982A=CA2326524907COMPc.1828T= (p.Tyr610=)
c.1669T= (p.Tyr557=)
c.1729T= (p.Tyr577=)
19g.18784982A>CCA404878220COMPc.1828T>G (p.Tyr610Asp)
c.1669T>G (p.Tyr557Asp)
c.1729T>G (p.Tyr577Asp)
19g.18784982A>GCA404878222COMPc.1828T>C (p.Tyr610His)
c.1669T>C (p.Tyr557His)
c.1729T>C (p.Tyr577His)
 dbSNP gnomAD v2 gnomAD v4
19g.18784982A>TCA404878226COMPc.1828T>A (p.Tyr610Asn)
c.1669T>A (p.Tyr557Asn)
c.1729T>A (p.Tyr577Asn)
19g.18784982dupCA2739276625COMPc.1828dup (p.Tyr610LeufsTer?)
c.1669dup (p.Tyr557LeufsTer?)
c.1729dup (p.Tyr577LeufsTer?)
 ClinVar
19g.18784983G>ACA506052371COMPc.1827C>T (p.Phe609=)
c.1668C>T (p.Phe556=)
c.1728C>T (p.Phe576=)
19g.18784983G>CCA404878233COMPc.1827C>G (p.Phe609Leu)
c.1668C>G (p.Phe556Leu)
c.1728C>G (p.Phe576Leu)
19g.18784983G>TCA404878235COMPc.1827C>A (p.Phe609Leu)
c.1668C>A (p.Phe556Leu)
c.1728C>A (p.Phe576Leu)
19g.18784984A>CCA404878238COMPc.1826T>G (p.Phe609Cys)
c.1667T>G (p.Phe556Cys)
c.1727T>G (p.Phe576Cys)
19g.18784984A>GCA404878245COMPc.1826T>C (p.Phe609Ser)
c.1667T>C (p.Phe556Ser)
c.1727T>C (p.Phe576Ser)
19g.18784984A>TCA404878243COMPc.1826T>A (p.Phe609Tyr)
c.1667T>A (p.Phe556Tyr)
c.1727T>A (p.Phe576Tyr)
19g.18784985A=CA2326524908COMPc.1825T= (p.Phe609=)
c.1666T= (p.Phe556=)
c.1726T= (p.Phe576=)
19g.18784985A>CCA404878251COMPc.1825T>G (p.Phe609Val)
c.1666T>G (p.Phe556Val)
c.1726T>G (p.Phe576Val)
19g.18784985A>GCA9316264COMPc.1825T>C (p.Phe609Leu)
c.1666T>C (p.Phe556Leu)
c.1726T>C (p.Phe576Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18784985A>TCA404878256COMPc.1825T>A (p.Phe609Ile)
c.1666T>A (p.Phe556Ile)
c.1726T>A (p.Phe576Ile)
19g.18784986G>ACA506052372COMPc.1824C>T (p.Ser608=)
c.1665C>T (p.Ser555=)
c.1725C>T (p.Ser575=)
 COSMIC
19g.18784986G>CCA404878261COMPc.1824C>G (p.Ser608Arg)
c.1665C>G (p.Ser555Arg)
c.1725C>G (p.Ser575Arg)
19g.18784986G>TCA404878265COMPc.1824C>A (p.Ser608Arg)
c.1665C>A (p.Ser555Arg)
c.1725C>A (p.Ser575Arg)
19g.18784987C>ACA404878269COMPc.1823G>T (p.Ser608Ile)
c.1664G>T (p.Ser555Ile)
c.1724G>T (p.Ser575Ile)
19g.18784987C>GCA404878273COMPc.1823G>C (p.Ser608Thr)
c.1664G>C (p.Ser555Thr)
c.1724G>C (p.Ser575Thr)
19g.18784987C>TCA404878283COMPc.1823G>A (p.Ser608Asn)
c.1664G>A (p.Ser555Asn)
c.1724G>A (p.Ser575Asn)
19g.18784988T>ACA404878293COMPc.1822A>T (p.Ser608Cys)
c.1663A>T (p.Ser555Cys)
c.1723A>T (p.Ser575Cys)
19g.18784988T>CCA404878295COMPc.1822A>G (p.Ser608Gly)
c.1663A>G (p.Ser555Gly)
c.1723A>G (p.Ser575Gly)
19g.18784988T>GCA404878297COMPc.1822A>C (p.Ser608Arg)
c.1663A>C (p.Ser555Arg)
c.1723A>C (p.Ser575Arg)
19g.18784989G>ACA506052373COMPc.1821C>T (p.Ser607=)
c.1662C>T (p.Ser554=)
c.1722C>T (p.Ser574=)
19g.18784989G>CCA506052374COMPc.1821C>G (p.Ser607=)
c.1662C>G (p.Ser554=)
c.1722C>G (p.Ser574=)
19g.18784989G>TCA506052375COMPc.1821C>A (p.Ser607=)
c.1662C>A (p.Ser554=)
c.1722C>A (p.Ser574=)
19g.18784990G>ACA404878302COMPc.1820C>T (p.Ser607Phe)
c.1661C>T (p.Ser554Phe)
c.1721C>T (p.Ser574Phe)
19g.18784990G>CCA404878307COMPc.1820C>G (p.Ser607Cys)
c.1661C>G (p.Ser554Cys)
c.1721C>G (p.Ser574Cys)
19g.18784990G>TCA404878304COMPc.1820C>A (p.Ser607Tyr)
c.1661C>A (p.Ser554Tyr)
c.1721C>A (p.Ser574Tyr)
19g.18784991_18784992delCA2583621577COMPc.1819_1820del (p.Ser607GlnfsTer?)
c.1660_1661del (p.Ser554GlnfsTer?)
c.1720_1721del (p.Ser574GlnfsTer?)
 gnomAD v4
19g.18784991A>CCA404878311COMPc.1819T>G (p.Ser607Ala)
c.1660T>G (p.Ser554Ala)
c.1720T>G (p.Ser574Ala)
19g.18784991A>GCA404878320COMPc.1819T>C (p.Ser607Pro)
c.1660T>C (p.Ser554Pro)
c.1720T>C (p.Ser574Pro)
19g.18784991A>TCA404878317COMPc.1819T>A (p.Ser607Thr)
c.1660T>A (p.Ser554Thr)
c.1720T>A (p.Ser574Thr)
19g.18784992G>ACA506052376COMPc.1818C>T (p.Ser606=)
c.1659C>T (p.Ser553=)
c.1719C>T (p.Ser573=)
19g.18784992G>CCA404878321COMPc.1818C>G (p.Ser606Arg)
c.1659C>G (p.Ser553Arg)
c.1719C>G (p.Ser573Arg)
19g.18784992G=CA2326524909COMPc.1818C= (p.Ser606=)
c.1659C= (p.Ser553=)
c.1719C= (p.Ser573=)
19g.18784992G>TCA404878322COMPc.1818C>A (p.Ser606Arg)
c.1659C>A (p.Ser553Arg)
c.1719C>A (p.Ser573Arg)
19g.18784993C>ACA404878325COMPc.1817G>T (p.Ser606Ile)
c.1658G>T (p.Ser553Ile)
c.1718G>T (p.Ser573Ile)
 dbSNP gnomAD v3 gnomAD v4
19g.18784993C=CA2326524910COMPc.1817G= (p.Ser606=)
c.1658G= (p.Ser553=)
c.1718G= (p.Ser573=)
19g.18784993C>GCA404878354COMPc.1817G>C (p.Ser606Thr)
c.1658G>C (p.Ser553Thr)
c.1718G>C (p.Ser573Thr)
19g.18784993C>TCA404878339COMPc.1817G>A (p.Ser606Asn)
c.1658G>A (p.Ser553Asn)
c.1718G>A (p.Ser573Asn)
19g.18784993dupCA632626796COMPc.1817dup (p.Ser606ArgfsTer?)
c.1658dup (p.Ser553ArgfsTer?)
c.1718dup (p.Ser573ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.18784994T>ACA404878358COMPc.1816A>T (p.Ser606Cys)
c.1657A>T (p.Ser553Cys)
c.1717A>T (p.Ser573Cys)
 gnomAD v4
19g.18784994T>CCA404878359COMPc.1816A>G (p.Ser606Gly)
c.1657A>G (p.Ser553Gly)
c.1717A>G (p.Ser573Gly)
19g.18784994T>GCA404878360COMPc.1816A>C (p.Ser606Arg)
c.1657A>C (p.Ser553Arg)
c.1717A>C (p.Ser573Arg)
19g.18784995G>ACA506052379COMPc.1815C>T (p.Asp605=)
c.1656C>T (p.Asp552=)
c.1716C>T (p.Asp572=)
 gnomAD v4
19g.18784995G>CCA404878365COMPc.1815C>G (p.Asp605Glu)
c.1656C>G (p.Asp552Glu)
c.1716C>G (p.Asp572Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18784995G=CA2326524911COMPc.1815C= (p.Asp605=)
c.1656C= (p.Asp552=)
c.1716C= (p.Asp572=)
19g.18784995G>TCA404878367COMPc.1815C>A (p.Asp605Glu)
c.1656C>A (p.Asp552Glu)
c.1716C>A (p.Asp572Glu)
19g.18784996T>ACA404878370COMPc.1814A>T (p.Asp605Val)
c.1655A>T (p.Asp552Val)
c.1715A>T (p.Asp572Val)
19g.18784996T>CCA404878373COMPc.1814A>G (p.Asp605Gly)
c.1655A>G (p.Asp552Gly)
c.1715A>G (p.Asp572Gly)
19g.18784996T>GCA404878377COMPc.1814A>C (p.Asp605Ala)
c.1655A>C (p.Asp552Ala)
c.1715A>C (p.Asp572Ala)
19g.18784997C>ACA404878380COMPc.1813G>T (p.Asp605Tyr)
c.1654G>T (p.Asp552Tyr)
c.1714G>T (p.Asp572Tyr)
19g.18784997C=CA2326524912COMPc.1813G= (p.Asp605=)
c.1654G= (p.Asp552=)
c.1714G= (p.Asp572=)
19g.18784997C>GCA404878381COMPc.1813G>C (p.Asp605His)
c.1654G>C (p.Asp552His)
c.1714G>C (p.Asp572His)
19g.18784997C>TCA344888COMPc.1813G>A (p.Asp605Asn)
c.1654G>A (p.Asp552Asn)
c.1714G>A (p.Asp572Asn)
 ClinVar dbSNP
19g.18784998C>ACA404878400COMPc.1812G>T (p.Gln604His)
c.1653G>T (p.Gln551His)
c.1713G>T (p.Gln571His)
19g.18784998C>GCA404878383COMPc.1812G>C (p.Gln604His)
c.1653G>C (p.Gln551His)
c.1713G>C (p.Gln571His)
19g.18784998C>TCA506052380COMPc.1812G>A (p.Gln604=)
c.1653G>A (p.Gln551=)
c.1713G>A (p.Gln571=)
19g.18784999T>ACA404878409COMPc.1811A>T (p.Gln604Leu)
c.1652A>T (p.Gln551Leu)
c.1712A>T (p.Gln571Leu)
19g.18784999T>CCA404878412COMPc.1811A>G (p.Gln604Arg)
c.1652A>G (p.Gln551Arg)
c.1712A>G (p.Gln571Arg)
 ClinVar dbSNP
19g.18784999T>GCA404878417COMPc.1811A>C (p.Gln604Pro)
c.1652A>C (p.Gln551Pro)
c.1712A>C (p.Gln571Pro)
 dbSNP
19g.18784999T=CA2326524913COMPc.1811A= (p.Gln604=)
c.1652A= (p.Gln551=)
c.1712A= (p.Gln571=)
19g.18785000G>ACA404878418COMPc.1810C>T (p.Gln604Ter)
c.1651C>T (p.Gln551Ter)
c.1711C>T (p.Gln571Ter)
19g.18785000G>CCA404878422COMPc.1810C>G (p.Gln604Glu)
c.1651C>G (p.Gln551Glu)
c.1711C>G (p.Gln571Glu)
19g.18785000G>TCA404878429COMPc.1810C>A (p.Gln604Lys)
c.1651C>A (p.Gln551Lys)
c.1711C>A (p.Gln571Lys)
19g.18785001delCA2583621578COMPc.1810del (p.Gln604ArgfsTer?)
c.1651del (p.Gln551ArgfsTer?)
c.1711del (p.Gln571ArgfsTer?)
 gnomAD v4
19g.18785001G>ACA506052381COMPc.1809C>T (p.Tyr603=)
c.1650C>T (p.Tyr550=)
c.1710C>T (p.Tyr570=)
19g.18785001G>CCA404878437COMPc.1809C>G (p.Tyr603Ter)
c.1650C>G (p.Tyr550Ter)
c.1710C>G (p.Tyr570Ter)
19g.18785001G>TCA404878438COMPc.1809C>A (p.Tyr603Ter)
c.1650C>A (p.Tyr550Ter)
c.1710C>A (p.Tyr570Ter)
19g.18785002T>ACA404878442COMPc.1808A>T (p.Tyr603Phe)
c.1649A>T (p.Tyr550Phe)
c.1709A>T (p.Tyr570Phe)
19g.18785002T>CCA404878450COMPc.1808A>G (p.Tyr603Cys)
c.1649A>G (p.Tyr550Cys)
c.1709A>G (p.Tyr570Cys)
19g.18785002T>GCA404878453COMPc.1808A>C (p.Tyr603Ser)
c.1649A>C (p.Tyr550Ser)
c.1709A>C (p.Tyr570Ser)
19g.18785003A=CA2326524914COMPc.1807T= (p.Tyr603=)
c.1648T= (p.Tyr550=)
c.1708T= (p.Tyr570=)
19g.18785003A>CCA404878467COMPc.1807T>G (p.Tyr603Asp)
c.1648T>G (p.Tyr550Asp)
c.1708T>G (p.Tyr570Asp)
19g.18785003A>GCA404878462COMPc.1807T>C (p.Tyr603His)
c.1648T>C (p.Tyr550His)
c.1708T>C (p.Tyr570His)
 dbSNP gnomAD v2 gnomAD v4
19g.18785003A>TCA404878459COMPc.1807T>A (p.Tyr603Asn)
c.1648T>A (p.Tyr550Asn)
c.1708T>A (p.Tyr570Asn)
19g.18785004G>ACA9316265COMPc.1806C>T (p.Gly602=)
c.1647C>T (p.Gly549=)
c.1707C>T (p.Gly569=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785004G>CCA506052383COMPc.1806C>G (p.Gly602=)
c.1647C>G (p.Gly549=)
c.1707C>G (p.Gly569=)
19g.18785004G=CA2326524915COMPc.1806C= (p.Gly602=)
c.1647C= (p.Gly549=)
c.1707C= (p.Gly569=)
19g.18785004G>TCA506052382COMPc.1806C>A (p.Gly602=)
c.1647C>A (p.Gly549=)
c.1707C>A (p.Gly569=)
19g.18785005C>ACA404878469COMPc.1805G>T (p.Gly602Val)
c.1646G>T (p.Gly549Val)
c.1706G>T (p.Gly569Val)
19g.18785005C>GCA404878472COMPc.1805G>C (p.Gly602Ala)
c.1646G>C (p.Gly549Ala)
c.1706G>C (p.Gly569Ala)
19g.18785005C>TCA404878483COMPc.1805G>A (p.Gly602Asp)
c.1646G>A (p.Gly549Asp)
c.1706G>A (p.Gly569Asp)
 gnomAD v4
19g.18785006C>ACA404878489COMPc.1804G>T (p.Gly602Cys)
c.1645G>T (p.Gly549Cys)
c.1705G>T (p.Gly569Cys)
19g.18785006C>GCA404878493COMPc.1804G>C (p.Gly602Arg)
c.1645G>C (p.Gly549Arg)
c.1705G>C (p.Gly569Arg)
19g.18785006C>TCA404878501COMPc.1804G>A (p.Gly602Ser)
c.1645G>A (p.Gly549Ser)
c.1705G>A (p.Gly569Ser)
19g.18785007A=CA2326524916COMPc.1803T= (p.Phe601=)
c.1644T= (p.Phe548=)
c.1704T= (p.Phe568=)
19g.18785007A>CCA404878502COMPc.1803T>G (p.Phe601Leu)
c.1644T>G (p.Phe548Leu)
c.1704T>G (p.Phe568Leu)
19g.18785007A>GCA9316266COMPc.1803T>C (p.Phe601=)
c.1644T>C (p.Phe548=)
c.1704T>C (p.Phe568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785007A>TCA404878503COMPc.1803T>A (p.Phe601Leu)
c.1644T>A (p.Phe548Leu)
c.1704T>A (p.Phe568Leu)
 COSMIC
19g.18785008A>CCA404878507COMPc.1802T>G (p.Phe601Cys)
c.1643T>G (p.Phe548Cys)
c.1703T>G (p.Phe568Cys)
19g.18785008A>GCA404878509COMPc.1802T>C (p.Phe601Ser)
c.1643T>C (p.Phe548Ser)
c.1703T>C (p.Phe568Ser)
 gnomAD v4
19g.18785008A>TCA404878526COMPc.1802T>A (p.Phe601Tyr)
c.1643T>A (p.Phe548Tyr)
c.1703T>A (p.Phe568Tyr)
19g.18785009A>CCA404878541COMPc.1801T>G (p.Phe601Val)
c.1642T>G (p.Phe548Val)
c.1702T>G (p.Phe568Val)
19g.18785009A>GCA404878566COMPc.1801T>C (p.Phe601Leu)
c.1642T>C (p.Phe548Leu)
c.1702T>C (p.Phe568Leu)
19g.18785009A>TCA404878562COMPc.1801T>A (p.Phe601Ile)
c.1642T>A (p.Phe548Ile)
c.1702T>A (p.Phe568Ile)
19g.18785010G>ACA9316267COMPc.1800C>T (p.Ile600=)
c.1641C>T (p.Ile547=)
c.1701C>T (p.Ile567=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785010G>CCA306253652COMPc.1800C>G (p.Ile600Met)
c.1641C>G (p.Ile547Met)
c.1701C>G (p.Ile567Met)
 dbSNP
19g.18785010G=CA2326524917COMPc.1800C= (p.Ile600=)
c.1641C= (p.Ile547=)
c.1701C= (p.Ile567=)
19g.18785010G>TCA506052385COMPc.1800C>A (p.Ile600=)
c.1641C>A (p.Ile547=)
c.1701C>A (p.Ile567=)
19g.18785011A>CCA404878579COMPc.1799T>G (p.Ile600Ser)
c.1640T>G (p.Ile547Ser)
c.1700T>G (p.Ile567Ser)
19g.18785011A>GCA404878584COMPc.1799T>C (p.Ile600Thr)
c.1640T>C (p.Ile547Thr)
c.1700T>C (p.Ile567Thr)
 dbSNP gnomAD v4
19g.18785011A>TCA404878585COMPc.1799T>A (p.Ile600Asn)
c.1640T>A (p.Ile547Asn)
c.1700T>A (p.Ile567Asn)
19g.18785012T>ACA404878586COMPc.1798A>T (p.Ile600Phe)
c.1639A>T (p.Ile547Phe)
c.1699A>T (p.Ile567Phe)
19g.18785012T>CCA404878587COMPc.1798A>G (p.Ile600Val)
c.1639A>G (p.Ile547Val)
c.1699A>G (p.Ile567Val)
19g.18785012T>GCA404878589COMPc.1798A>C (p.Ile600Leu)
c.1639A>C (p.Ile547Leu)
c.1699A>C (p.Ile567Leu)
19g.18785013G>ACA506052389COMPc.1797C>T (p.Phe599=)
c.1638C>T (p.Phe546=)
c.1698C>T (p.Phe566=)
19g.18785013G>CCA404878595COMPc.1797C>G (p.Phe599Leu)
c.1638C>G (p.Phe546Leu)
c.1698C>G (p.Phe566Leu)
19g.18785013G>TCA404878610COMPc.1797C>A (p.Phe599Leu)
c.1638C>A (p.Phe546Leu)
c.1698C>A (p.Phe566Leu)
19g.18785014A>CCA404878616COMPc.1796T>G (p.Phe599Cys)
c.1637T>G (p.Phe546Cys)
c.1697T>G (p.Phe566Cys)
19g.18785014A>GCA404878620COMPc.1796T>C (p.Phe599Ser)
c.1637T>C (p.Phe546Ser)
c.1697T>C (p.Phe566Ser)
19g.18785014A>TCA404878614COMPc.1796T>A (p.Phe599Tyr)
c.1637T>A (p.Phe546Tyr)
c.1697T>A (p.Phe566Tyr)
19g.18785015A>CCA404878624COMPc.1795T>G (p.Phe599Val)
c.1636T>G (p.Phe546Val)
c.1696T>G (p.Phe566Val)
19g.18785015A>GCA404878625COMPc.1795T>C (p.Phe599Leu)
c.1636T>C (p.Phe546Leu)
c.1696T>C (p.Phe566Leu)
19g.18785015A>TCA404878626COMPc.1795T>A (p.Phe599Ile)
c.1636T>A (p.Phe546Ile)
c.1696T>A (p.Phe566Ile)
19g.18785016G>ACA506052394COMPc.1794C>T (p.Gly598=)
c.1635C>T (p.Gly545=)
c.1695C>T (p.Gly565=)
 gnomAD v4
19g.18785016G>CCA506052395COMPc.1794C>G (p.Gly598=)
c.1635C>G (p.Gly545=)
c.1695C>G (p.Gly565=)
 gnomAD v4
19g.18785016G>TCA506052396COMPc.1794C>A (p.Gly598=)
c.1635C>A (p.Gly545=)
c.1695C>A (p.Gly565=)
19g.18785017C>ACA404878629COMPc.1793G>T (p.Gly598Val)
c.1634G>T (p.Gly545Val)
c.1694G>T (p.Gly565Val)
19g.18785017C>GCA404878632COMPc.1793G>C (p.Gly598Ala)
c.1634G>C (p.Gly545Ala)
c.1694G>C (p.Gly565Ala)
19g.18785017C>TCA404878636COMPc.1793G>A (p.Gly598Asp)
c.1634G>A (p.Gly545Asp)
c.1694G>A (p.Gly565Asp)
 ClinVar
19g.18785019dupCA2583621579COMPc.1793dup (p.Phe599LeufsTer?)
c.1634dup (p.Phe546LeufsTer?)
c.1694dup (p.Phe566LeufsTer?)
 gnomAD v4
19g.18785018C>ACA404878647COMPc.1792G>T (p.Gly598Cys)
c.1633G>T (p.Gly545Cys)
c.1693G>T (p.Gly565Cys)
19g.18785018C=CA2326524918COMPc.1792G= (p.Gly598=)
c.1633G= (p.Gly545=)
c.1693G= (p.Gly565=)
19g.18785018C>GCA404878651COMPc.1792G>C (p.Gly598Arg)
c.1633G>C (p.Gly545Arg)
c.1693G>C (p.Gly565Arg)
19g.18785018C>TCA404878659COMPc.1792G>A (p.Gly598Ser)
c.1633G>A (p.Gly545Ser)
c.1693G>A (p.Gly565Ser)
 dbSNP
19g.18785019C>ACA506052400COMPc.1791G>T (p.Ala597=)
c.1632G>T (p.Ala544=)
c.1692G>T (p.Ala564=)
 gnomAD v4
19g.18785019C=CA2326524919COMPc.1791G= (p.Ala597=)
c.1632G= (p.Ala544=)
c.1692G= (p.Ala564=)
19g.18785019C>GCA506052401COMPc.1791G>C (p.Ala597=)
c.1632G>C (p.Ala544=)
c.1692G>C (p.Ala564=)
19g.18785019C>TCA506052405COMPc.1791G>A (p.Ala597=)
c.1632G>A (p.Ala544=)
c.1692G>A (p.Ala564=)
 dbSNP gnomAD v2 gnomAD v4
19g.18785020G>ACA404878663COMPc.1790C>T (p.Ala597Val)
c.1631C>T (p.Ala544Val)
c.1691C>T (p.Ala564Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18785020G>CCA404878669COMPc.1790C>G (p.Ala597Gly)
c.1631C>G (p.Ala544Gly)
c.1691C>G (p.Ala564Gly)
19g.18785020G=CA2326524920COMPc.1790C= (p.Ala597=)
c.1631C= (p.Ala544=)
c.1691C= (p.Ala564=)
19g.18785020G>TCA404878671COMPc.1790C>A (p.Ala597Glu)
c.1631C>A (p.Ala544Glu)
c.1691C>A (p.Ala564Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18785021C>ACA404878689COMPc.1789G>T (p.Ala597Ser)
c.1630G>T (p.Ala544Ser)
c.1690G>T (p.Ala564Ser)
19g.18785021C>GCA404878687COMPc.1789G>C (p.Ala597Pro)
c.1630G>C (p.Ala544Pro)
c.1690G>C (p.Ala564Pro)
19g.18785021C>TCA404878680COMPc.1789G>A (p.Ala597Thr)
c.1630G>A (p.Ala544Thr)
c.1690G>A (p.Ala564Thr)
 gnomAD v4
19g.18785022A=CA2326524921COMPc.1788T= (p.Tyr596=)
c.1629T= (p.Tyr543=)
c.1689T= (p.Tyr563=)
19g.18785022A>CCA404878693COMPc.1788T>G (p.Tyr596Ter)
c.1629T>G (p.Tyr543Ter)
c.1689T>G (p.Tyr563Ter)
 gnomAD v4
19g.18785022A>GCA9316268COMPc.1788T>C (p.Tyr596=)
c.1629T>C (p.Tyr543=)
c.1689T>C (p.Tyr563=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18785022A>TCA404878711COMPc.1788T>A (p.Tyr596Ter)
c.1629T>A (p.Tyr543Ter)
c.1689T>A (p.Tyr563Ter)
19g.18785023T>ACA404878716COMPc.1787A>T (p.Tyr596Phe)
c.1628A>T (p.Tyr543Phe)
c.1688A>T (p.Tyr563Phe)
19g.18785023T>CCA404878717COMPc.1787A>G (p.Tyr596Cys)
c.1628A>G (p.Tyr543Cys)
c.1688A>G (p.Tyr563Cys)
19g.18785023T>GCA404878718COMPc.1787A>C (p.Tyr596Ser)
c.1628A>C (p.Tyr543Ser)
c.1688A>C (p.Tyr563Ser)
19g.18785024A>CCA404878723COMPc.1786T>G (p.Tyr596Asp)
c.1627T>G (p.Tyr543Asp)
c.1687T>G (p.Tyr563Asp)
 gnomAD v4
19g.18785024A>GCA404878730COMPc.1786T>C (p.Tyr596His)
c.1627T>C (p.Tyr543His)
c.1687T>C (p.Tyr563His)
 gnomAD v4
19g.18785024A>TCA404878736COMPc.1786T>A (p.Tyr596Asn)
c.1627T>A (p.Tyr543Asn)
c.1687T>A (p.Tyr563Asn)
19g.18785025G>ACA506052413COMPc.1785C>T (p.Asp595=)
c.1626C>T (p.Asp542=)
c.1686C>T (p.Asp562=)
19g.18785025G>CCA404878741COMPc.1785C>G (p.Asp595Glu)
c.1626C>G (p.Asp542Glu)
c.1686C>G (p.Asp562Glu)
19g.18785025G>TCA404878742COMPc.1785C>A (p.Asp595Glu)
c.1626C>A (p.Asp542Glu)
c.1686C>A (p.Asp562Glu)
19g.18785026T>ACA404878743COMPc.1784A>T (p.Asp595Val)
c.1625A>T (p.Asp542Val)
c.1685A>T (p.Asp562Val)
19g.18785026T>CCA404878746COMPc.1784A>G (p.Asp595Gly)
c.1625A>G (p.Asp542Gly)
c.1685A>G (p.Asp562Gly)
19g.18785026T>GCA404878749COMPc.1784A>C (p.Asp595Ala)
c.1625A>C (p.Asp542Ala)
c.1685A>C (p.Asp562Ala)
19g.18785027C>ACA404878778COMPc.1783G>T (p.Asp595Tyr)
c.1624G>T (p.Asp542Tyr)
c.1684G>T (p.Asp562Tyr)
 gnomAD v4 COSMIC
19g.18785027C=CA2326524922COMPc.1783G= (p.Asp595=)
c.1624G= (p.Asp542=)
c.1684G= (p.Asp562=)
19g.18785027C>GCA404878779COMPc.1783G>C (p.Asp595His)
c.1624G>C (p.Asp542His)
c.1684G>C (p.Asp562His)
19g.18785027C>TCA404878759COMPc.1783G>A (p.Asp595Asn)
c.1624G>A (p.Asp542Asn)
c.1684G>A (p.Asp562Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.18785028G>ACA9316269COMPc.1782C>T (p.Asp594=)
c.1623C>T (p.Asp541=)
c.1683C>T (p.Asp561=)
 dbSNP ExAC gnomAD v4
19g.18785028G>CCA404878783COMPc.1782C>G (p.Asp594Glu)
c.1623C>G (p.Asp541Glu)
c.1683C>G (p.Asp561Glu)
 gnomAD v4
19g.18785028G=CA2326524923COMPc.1782C= (p.Asp594=)
c.1623C= (p.Asp541=)
c.1683C= (p.Asp561=)
19g.18785028G>TCA404878785COMPc.1782C>A (p.Asp594Glu)
c.1623C>A (p.Asp541Glu)
c.1683C>A (p.Asp561Glu)
19g.18785029T>ACA404878791COMPc.1781A>T (p.Asp594Val)
c.1622A>T (p.Asp541Val)
c.1682A>T (p.Asp561Val)
19g.18785029T>CCA404878794COMPc.1781A>G (p.Asp594Gly)
c.1622A>G (p.Asp541Gly)
c.1682A>G (p.Asp561Gly)
19g.18785029T>GCA404878800COMPc.1781A>C (p.Asp594Ala)
c.1622A>C (p.Asp541Ala)
c.1682A>C (p.Asp561Ala)
19g.18785030C>ACA404878806COMPc.1780G>T (p.Asp594Tyr)
c.1621G>T (p.Asp541Tyr)
c.1681G>T (p.Asp561Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.18785030C=CA2326524924COMPc.1780G= (p.Asp594=)
c.1621G= (p.Asp541=)
c.1681G= (p.Asp561=)
19g.18785030C>GCA404878810COMPc.1780G>C (p.Asp594His)
c.1621G>C (p.Asp541His)
c.1681G>C (p.Asp561His)
19g.18785030C>TCA404878811COMPc.1780G>A (p.Asp594Asn)
c.1621G>A (p.Asp541Asn)
c.1681G>A (p.Asp561Asn)
 gnomAD v4
19g.18785031A>CCA404878813COMPc.1779T>G (p.Asp593Glu)
c.1620T>G (p.Asp540Glu)
c.1680T>G (p.Asp560Glu)
19g.18785031A>GCA506052420COMPc.1779T>C (p.Asp593=)
c.1620T>C (p.Asp540=)
c.1680T>C (p.Asp560=)
 gnomAD v4
19g.18785031A>TCA404878816COMPc.1779T>A (p.Asp593Glu)
c.1620T>A (p.Asp540Glu)
c.1680T>A (p.Asp560Glu)
19g.18785032T>ACA404878834COMPc.1778A>T (p.Asp593Val)
c.1619A>T (p.Asp540Val)
c.1679A>T (p.Asp560Val)
19g.18785032T>CCA404878831COMPc.1778A>G (p.Asp593Gly)
c.1619A>G (p.Asp540Gly)
c.1679A>G (p.Asp560Gly)
 gnomAD v4
19g.18785032T>GCA404878828COMPc.1778A>C (p.Asp593Ala)
c.1619A>C (p.Asp540Ala)
c.1679A>C (p.Asp560Ala)
19g.18785033C>ACA404878838COMPc.1777G>T (p.Asp593Tyr)
c.1618G>T (p.Asp540Tyr)
c.1678G>T (p.Asp560Tyr)
19g.18785033C>GCA404878842COMPc.1777G>C (p.Asp593His)
c.1618G>C (p.Asp540His)
c.1678G>C (p.Asp560His)
19g.18785033C>TCA404878845COMPc.1777G>A (p.Asp593Asn)
c.1618G>A (p.Asp540Asn)
c.1678G>A (p.Asp560Asn)
19g.18785034C>ACA506052421COMPc.1776G>T (p.Thr592=)
c.1617G>T (p.Thr539=)
c.1677G>T (p.Thr559=)
19g.18785034C=CA2326524925COMPc.1776G= (p.Thr592=)
c.1617G= (p.Thr539=)
c.1677G= (p.Thr559=)
19g.18785034C>GCA506052422COMPc.1776G>C (p.Thr592=)
c.1617G>C (p.Thr539=)
c.1677G>C (p.Thr559=)
19g.18785034C>TCA9316270COMPc.1776G>A (p.Thr592=)
c.1617G>A (p.Thr539=)
c.1677G>A (p.Thr559=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785035G>ACA404878846COMPc.1775C>T (p.Thr592Met)
c.1616C>T (p.Thr539Met)
c.1676C>T (p.Thr559Met)
 ClinVar
19g.18785035G>CCA404878848COMPc.1775C>G (p.Thr592Arg)
c.1616C>G (p.Thr539Arg)
c.1676C>G (p.Thr559Arg)
 ClinVar
19g.18785035G>TCA404878850COMPc.1775C>A (p.Thr592Lys)
c.1616C>A (p.Thr539Lys)
c.1676C>A (p.Thr559Lys)
19g.18785036T>ACA404878853COMPc.1774A>T (p.Thr592Ser)
c.1615A>T (p.Thr539Ser)
c.1675A>T (p.Thr559Ser)
19g.18785036T>CCA404878859COMPc.1774A>G (p.Thr592Ala)
c.1615A>G (p.Thr539Ala)
c.1675A>G (p.Thr559Ala)
19g.18785036T>GCA404878861COMPc.1774A>C (p.Thr592Pro)
c.1615A>C (p.Thr539Pro)
c.1675A>C (p.Thr559Pro)
19g.18785037G>ACA506052424COMPc.1773C>T (p.Val591=)
c.1614C>T (p.Val538=)
c.1674C>T (p.Val558=)
19g.18785037G>CCA506052426COMPc.1773C>G (p.Val591=)
c.1614C>G (p.Val538=)
c.1674C>G (p.Val558=)
 gnomAD v4
19g.18785037G>TCA506052425COMPc.1773C>A (p.Val591=)
c.1614C>A (p.Val538=)
c.1674C>A (p.Val558=)
19g.18785038A>CCA404878864COMPc.1772T>G (p.Val591Gly)
c.1613T>G (p.Val538Gly)
c.1673T>G (p.Val558Gly)
19g.18785038A>GCA404878865COMPc.1772T>C (p.Val591Ala)
c.1613T>C (p.Val538Ala)
c.1673T>C (p.Val558Ala)
19g.18785038A>TCA404878867COMPc.1772T>A (p.Val591Asp)
c.1613T>A (p.Val538Asp)
c.1673T>A (p.Val558Asp)
19g.18785039C>ACA404878870COMPc.1771G>T (p.Val591Phe)
c.1612G>T (p.Val538Phe)
c.1672G>T (p.Val558Phe)
19g.18785039C=CA2326524926COMPc.1771G= (p.Val591=)
c.1612G= (p.Val538=)
c.1672G= (p.Val558=)
19g.18785039C>GCA404878872COMPc.1771G>C (p.Val591Leu)
c.1612G>C (p.Val538Leu)
c.1672G>C (p.Val558Leu)
19g.18785039C>TCA9316271COMPc.1771G>A (p.Val591Ile)
c.1612G>A (p.Val538Ile)
c.1672G>A (p.Val558Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18785040C>ACA506052428COMPc.1770G>T (p.Thr590=)
c.1611G>T (p.Thr537=)
c.1671G>T (p.Thr557=)
19g.18785040C=CA2326524927COMPc.1770G= (p.Thr590=)
c.1611G= (p.Thr537=)
c.1671G= (p.Thr557=)
19g.18785040C>GCA506052429COMPc.1770G>C (p.Thr590=)
c.1611G>C (p.Thr537=)
c.1671G>C (p.Thr557=)
 dbSNP
19g.18785040C>TCA9316272COMPc.1770G>A (p.Thr590=)
c.1611G>A (p.Thr537=)
c.1671G>A (p.Thr557=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched