Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189894381C>ACA355751482TP63c.1922C>A (p.Ala641Asp)
c.1640C>A (p.Ala547Asp)
c.*150C>A (n.*150C>A)
c.1910C>A (p.Ala637Asp)
c.1385C>A (p.Ala462Asp)
c.1628C>A (p.Ala543Asp)
c.*160C>A (n.*160C>A)
c.1871C>A (p.Ala624Asp)
c.1919C>A (p.Ala640Asp)
c.1916C>A (p.Ala639Asp)
c.1883C>A (p.Ala628Asp)
3g.189894381C=CA1428535268TP63c.1922C= (p.Ala641=)
c.1640C= (p.Ala547=)
c.*150C= (n.*150C=)
c.1910C= (p.Ala637=)
c.1385C= (p.Ala462=)
c.1628C= (p.Ala543=)
c.*160C= (n.*160C=)
c.1871C= (p.Ala624=)
c.1919C= (p.Ala640=)
c.1916C= (p.Ala639=)
c.1883C= (p.Ala628=)
3g.189894381C>GCA355751483TP63c.1922C>G (p.Ala641Gly)
c.1640C>G (p.Ala547Gly)
c.*150C>G (n.*150C>G)
c.1910C>G (p.Ala637Gly)
c.1385C>G (p.Ala462Gly)
c.1628C>G (p.Ala543Gly)
c.*160C>G (n.*160C>G)
c.1871C>G (p.Ala624Gly)
c.1919C>G (p.Ala640Gly)
c.1916C>G (p.Ala639Gly)
c.1883C>G (p.Ala628Gly)
3g.189894381C>TCA16617859TP63c.1922C>T (p.Ala641Val)
c.1640C>T (p.Ala547Val)
c.*150C>T (n.*150C>T)
c.1910C>T (p.Ala637Val)
c.1385C>T (p.Ala462Val)
c.1628C>T (p.Ala543Val)
c.*160C>T (n.*160C>T)
c.1871C>T (p.Ala624Val)
c.1919C>T (p.Ala640Val)
c.1916C>T (p.Ala639Val)
c.1883C>T (p.Ala628Val)
 ClinVar dbSNP
3g.189894382T>ACA437637189TP63c.1923T>A (p.Ala641=)
c.1641T>A (p.Ala547=)
c.*151T>A (n.*151T>A)
c.1911T>A (p.Ala637=)
c.1386T>A (p.Ala462=)
c.1629T>A (p.Ala543=)
c.*161T>A (n.*161T>A)
c.1872T>A (p.Ala624=)
c.1920T>A (p.Ala640=)
c.1917T>A (p.Ala639=)
c.1884T>A (p.Ala628=)
 dbSNP
3g.189894382T>CCA437637188TP63c.1923T>C (p.Ala641=)
c.1641T>C (p.Ala547=)
c.*151T>C (n.*151T>C)
c.1911T>C (p.Ala637=)
c.1386T>C (p.Ala462=)
c.1629T>C (p.Ala543=)
c.*161T>C (n.*161T>C)
c.1872T>C (p.Ala624=)
c.1920T>C (p.Ala640=)
c.1917T>C (p.Ala639=)
c.1884T>C (p.Ala628=)
 dbSNP
3g.189894382T>GCA437637187TP63c.1923T>G (p.Ala641=)
c.1641T>G (p.Ala547=)
c.*151T>G (n.*151T>G)
c.1911T>G (p.Ala637=)
c.1386T>G (p.Ala462=)
c.1629T>G (p.Ala543=)
c.*161T>G (n.*161T>G)
c.1872T>G (p.Ala624=)
c.1920T>G (p.Ala640=)
c.1917T>G (p.Ala639=)
c.1884T>G (p.Ala628=)
3g.189894383G>ACA355751484TP63c.1924G>A (p.Val642Met)
c.1642G>A (p.Val548Met)
c.*152G>A (n.*152G>A)
c.1912G>A (p.Val638Met)
c.1387G>A (p.Val463Met)
c.1630G>A (p.Val544Met)
c.*162G>A (n.*162G>A)
c.1873G>A (p.Val625Met)
c.1921G>A (p.Val641Met)
c.1918G>A (p.Val640Met)
c.1885G>A (p.Val629Met)
 dbSNP
3g.189894383G>CCA355751485TP63c.1924G>C (p.Val642Leu)
c.1642G>C (p.Val548Leu)
c.*152G>C (n.*152G>C)
c.1912G>C (p.Val638Leu)
c.1387G>C (p.Val463Leu)
c.1630G>C (p.Val544Leu)
c.*162G>C (n.*162G>C)
c.1873G>C (p.Val625Leu)
c.1921G>C (p.Val641Leu)
c.1918G>C (p.Val640Leu)
c.1885G>C (p.Val629Leu)
 dbSNP
3g.189894383G>TCA355751486TP63c.1924G>T (p.Val642Leu)
c.1642G>T (p.Val548Leu)
c.*152G>T (n.*152G>T)
c.1912G>T (p.Val638Leu)
c.1387G>T (p.Val463Leu)
c.1630G>T (p.Val544Leu)
c.*162G>T (n.*162G>T)
c.1873G>T (p.Val625Leu)
c.1921G>T (p.Val641Leu)
c.1918G>T (p.Val640Leu)
c.1885G>T (p.Val629Leu)
3g.189894384T>ACA355751487TP63c.1925T>A (p.Val642Glu)
c.1643T>A (p.Val548Glu)
c.*153T>A (n.*153T>A)
c.1913T>A (p.Val638Glu)
c.1388T>A (p.Val463Glu)
c.1631T>A (p.Val544Glu)
c.*163T>A (n.*163T>A)
c.1874T>A (p.Val625Glu)
c.1922T>A (p.Val641Glu)
c.1919T>A (p.Val640Glu)
c.1886T>A (p.Val629Glu)
 dbSNP
3g.189894384T>CCA355751488TP63c.1925T>C (p.Val642Ala)
c.1643T>C (p.Val548Ala)
c.*153T>C (n.*153T>C)
c.1913T>C (p.Val638Ala)
c.1388T>C (p.Val463Ala)
c.1631T>C (p.Val544Ala)
c.*163T>C (n.*163T>C)
c.1874T>C (p.Val625Ala)
c.1922T>C (p.Val641Ala)
c.1919T>C (p.Val640Ala)
c.1886T>C (p.Val629Ala)
3g.189894384T>GCA355751489TP63c.1925T>G (p.Val642Gly)
c.1643T>G (p.Val548Gly)
c.*153T>G (n.*153T>G)
c.1913T>G (p.Val638Gly)
c.1388T>G (p.Val463Gly)
c.1631T>G (p.Val544Gly)
c.*163T>G (n.*163T>G)
c.1874T>G (p.Val625Gly)
c.1922T>G (p.Val641Gly)
c.1919T>G (p.Val640Gly)
c.1886T>G (p.Val629Gly)
 dbSNP
3g.189894385G>ACA437637192TP63c.1926G>A (p.Val642=)
c.1644G>A (p.Val548=)
c.*154G>A (n.*154G>A)
c.1914G>A (p.Val638=)
c.1389G>A (p.Val463=)
c.1632G>A (p.Val544=)
c.*164G>A (n.*164G>A)
c.1875G>A (p.Val625=)
c.1923G>A (p.Val641=)
c.1920G>A (p.Val640=)
c.1887G>A (p.Val629=)
 dbSNP
3g.189894385G>CCA437637194TP63c.1926G>C (p.Val642=)
c.1644G>C (p.Val548=)
c.*154G>C (n.*154G>C)
c.1914G>C (p.Val638=)
c.1389G>C (p.Val463=)
c.1632G>C (p.Val544=)
c.*164G>C (n.*164G>C)
c.1875G>C (p.Val625=)
c.1923G>C (p.Val641=)
c.1920G>C (p.Val640=)
c.1887G>C (p.Val629=)
 dbSNP
3g.189894385G>TCA437637193TP63c.1926G>T (p.Val642=)
c.1644G>T (p.Val548=)
c.*154G>T (n.*154G>T)
c.1914G>T (p.Val638=)
c.1389G>T (p.Val463=)
c.1632G>T (p.Val544=)
c.*164G>T (n.*164G>T)
c.1875G>T (p.Val625=)
c.1923G>T (p.Val641=)
c.1920G>T (p.Val640=)
c.1887G>T (p.Val629=)
3g.189894386C>ACA437637195TP63c.1927C>A (p.Arg643=)
c.1645C>A (p.Arg549=)
c.*155C>A (n.*155C>A)
c.1915C>A (p.Arg639=)
c.1390C>A (p.Arg464=)
c.1633C>A (p.Arg545=)
c.*165C>A (n.*165C>A)
c.1876C>A (p.Arg626=)
c.1924C>A (p.Arg642=)
c.1921C>A (p.Arg641=)
c.1888C>A (p.Arg630=)
 gnomAD v4
3g.189894386C=CA1428535269TP63c.1927C= (p.Arg643=)
c.1645C= (p.Arg549=)
c.*155C= (n.*155C=)
c.1915C= (p.Arg639=)
c.1390C= (p.Arg464=)
c.1633C= (p.Arg545=)
c.*165C= (n.*165C=)
c.1876C= (p.Arg626=)
c.1924C= (p.Arg642=)
c.1921C= (p.Arg641=)
c.1888C= (p.Arg630=)
3g.189894386C>GCA355751490TP63c.1927C>G (p.Arg643Gly)
c.1645C>G (p.Arg549Gly)
c.*155C>G (n.*155C>G)
c.1915C>G (p.Arg639Gly)
c.1390C>G (p.Arg464Gly)
c.1633C>G (p.Arg545Gly)
c.*165C>G (n.*165C>G)
c.1876C>G (p.Arg626Gly)
c.1924C>G (p.Arg642Gly)
c.1921C>G (p.Arg641Gly)
c.1888C>G (p.Arg630Gly)
 dbSNP
3g.189894386C>TCA355751491TP63c.1927C>T (p.Arg643Ter)
c.1645C>T (p.Arg549Ter)
c.*155C>T (n.*155C>T)
c.1915C>T (p.Arg639Ter)
c.1390C>T (p.Arg464Ter)
c.1633C>T (p.Arg545Ter)
c.*165C>T (n.*165C>T)
c.1876C>T (p.Arg626Ter)
c.1924C>T (p.Arg642Ter)
c.1921C>T (p.Arg641Ter)
c.1888C>T (p.Arg630Ter)
 ClinVar dbSNP gnomAD v4
3g.189894387G>ACA355751492TP63c.1928G>A (p.Arg643Gln)
c.1646G>A (p.Arg549Gln)
c.*156G>A (n.*156G>A)
c.1916G>A (p.Arg639Gln)
c.1391G>A (p.Arg464Gln)
c.1634G>A (p.Arg545Gln)
c.*166G>A (n.*166G>A)
c.1877G>A (p.Arg626Gln)
c.1925G>A (p.Arg642Gln)
c.1922G>A (p.Arg641Gln)
c.1889G>A (p.Arg630Gln)
 dbSNP COSMIC COSMIC
3g.189894387G>CCA355751493TP63c.1928G>C (p.Arg643Pro)
c.1646G>C (p.Arg549Pro)
c.*156G>C (n.*156G>C)
c.1916G>C (p.Arg639Pro)
c.1391G>C (p.Arg464Pro)
c.1634G>C (p.Arg545Pro)
c.*166G>C (n.*166G>C)
c.1877G>C (p.Arg626Pro)
c.1925G>C (p.Arg642Pro)
c.1922G>C (p.Arg641Pro)
c.1889G>C (p.Arg630Pro)
 dbSNP
3g.189894387G>TCA355751494TP63c.1928G>T (p.Arg643Leu)
c.1646G>T (p.Arg549Leu)
c.*156G>T (n.*156G>T)
c.1916G>T (p.Arg639Leu)
c.1391G>T (p.Arg464Leu)
c.1634G>T (p.Arg545Leu)
c.*166G>T (n.*166G>T)
c.1877G>T (p.Arg626Leu)
c.1925G>T (p.Arg642Leu)
c.1922G>T (p.Arg641Leu)
c.1889G>T (p.Arg630Leu)
3g.189894388A>CCA437637199TP63c.1929A>C (p.Arg643=)
c.1647A>C (p.Arg549=)
c.*157A>C (n.*157A>C)
c.1917A>C (p.Arg639=)
c.1392A>C (p.Arg464=)
c.1635A>C (p.Arg545=)
c.*167A>C (n.*167A>C)
c.1878A>C (p.Arg626=)
c.1926A>C (p.Arg642=)
c.1923A>C (p.Arg641=)
c.1890A>C (p.Arg630=)
 dbSNP
3g.189894388A>GCA437637200TP63c.1929A>G (p.Arg643=)
c.1647A>G (p.Arg549=)
c.*157A>G (n.*157A>G)
c.1917A>G (p.Arg639=)
c.1392A>G (p.Arg464=)
c.1635A>G (p.Arg545=)
c.*167A>G (n.*167A>G)
c.1878A>G (p.Arg626=)
c.1926A>G (p.Arg642=)
c.1923A>G (p.Arg641=)
c.1890A>G (p.Arg630=)
3g.189894388A>TCA437637201TP63c.1929A>T (p.Arg643=)
c.1647A>T (p.Arg549=)
c.*157A>T (n.*157A>T)
c.1917A>T (p.Arg639=)
c.1392A>T (p.Arg464=)
c.1635A>T (p.Arg545=)
c.*167A>T (n.*167A>T)
c.1878A>T (p.Arg626=)
c.1926A>T (p.Arg642=)
c.1923A>T (p.Arg641=)
c.1890A>T (p.Arg630=)
 dbSNP
3g.189894389T>ACA355751495TP63c.1930T>A (p.Phe644Ile)
c.1648T>A (p.Phe550Ile)
c.*158T>A (n.*158T>A)
c.1918T>A (p.Phe640Ile)
c.1393T>A (p.Phe465Ile)
c.1636T>A (p.Phe546Ile)
c.*168T>A (n.*168T>A)
c.1879T>A (p.Phe627Ile)
c.1927T>A (p.Phe643Ile)
c.1924T>A (p.Phe642Ile)
c.1891T>A (p.Phe631Ile)
 dbSNP
3g.189894389T>CCA2752598TP63c.1930T>C (p.Phe644Leu)
c.1648T>C (p.Phe550Leu)
c.*158T>C (n.*158T>C)
c.1918T>C (p.Phe640Leu)
c.1393T>C (p.Phe465Leu)
c.1636T>C (p.Phe546Leu)
c.*168T>C (n.*168T>C)
c.1879T>C (p.Phe627Leu)
c.1927T>C (p.Phe643Leu)
c.1924T>C (p.Phe642Leu)
c.1891T>C (p.Phe631Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894389T>GCA355751496TP63c.1930T>G (p.Phe644Val)
c.1648T>G (p.Phe550Val)
c.*158T>G (n.*158T>G)
c.1918T>G (p.Phe640Val)
c.1393T>G (p.Phe465Val)
c.1636T>G (p.Phe546Val)
c.*168T>G (n.*168T>G)
c.1879T>G (p.Phe627Val)
c.1927T>G (p.Phe643Val)
c.1924T>G (p.Phe642Val)
c.1891T>G (p.Phe631Val)
 dbSNP
3g.189894389T=CA1428535270TP63c.1930T= (p.Phe644=)
c.1648T= (p.Phe550=)
c.*158T= (n.*158T=)
c.1918T= (p.Phe640=)
c.1393T= (p.Phe465=)
c.1636T= (p.Phe546=)
c.*168T= (n.*168T=)
c.1879T= (p.Phe627=)
c.1927T= (p.Phe643=)
c.1924T= (p.Phe642=)
c.1891T= (p.Phe631=)
3g.189894390T>ACA355751497TP63c.1931T>A (p.Phe644Tyr)
c.1649T>A (p.Phe550Tyr)
c.*159T>A (n.*159T>A)
c.1919T>A (p.Phe640Tyr)
c.1394T>A (p.Phe465Tyr)
c.1637T>A (p.Phe546Tyr)
c.*169T>A (n.*169T>A)
c.1880T>A (p.Phe627Tyr)
c.1928T>A (p.Phe643Tyr)
c.1925T>A (p.Phe642Tyr)
c.1892T>A (p.Phe631Tyr)
 dbSNP
3g.189894390T>CCA355751498TP63c.1931T>C (p.Phe644Ser)
c.1649T>C (p.Phe550Ser)
c.*159T>C (n.*159T>C)
c.1919T>C (p.Phe640Ser)
c.1394T>C (p.Phe465Ser)
c.1637T>C (p.Phe546Ser)
c.*169T>C (n.*169T>C)
c.1880T>C (p.Phe627Ser)
c.1928T>C (p.Phe643Ser)
c.1925T>C (p.Phe642Ser)
c.1892T>C (p.Phe631Ser)
3g.189894390T>GCA355751499TP63c.1931T>G (p.Phe644Cys)
c.1649T>G (p.Phe550Cys)
c.*159T>G (n.*159T>G)
c.1919T>G (p.Phe640Cys)
c.1394T>G (p.Phe465Cys)
c.1637T>G (p.Phe546Cys)
c.*169T>G (n.*169T>G)
c.1880T>G (p.Phe627Cys)
c.1928T>G (p.Phe643Cys)
c.1925T>G (p.Phe642Cys)
c.1892T>G (p.Phe631Cys)
 dbSNP
3g.189894391C>ACA355751500TP63c.1932C>A (p.Phe644Leu)
c.1650C>A (p.Phe550Leu)
c.*160C>A (n.*160C>A)
c.1920C>A (p.Phe640Leu)
c.1395C>A (p.Phe465Leu)
c.1638C>A (p.Phe546Leu)
c.*170C>A (n.*170C>A)
c.1881C>A (p.Phe627Leu)
c.1929C>A (p.Phe643Leu)
c.1926C>A (p.Phe642Leu)
c.1893C>A (p.Phe631Leu)
3g.189894391C>GCA355751501TP63c.1932C>G (p.Phe644Leu)
c.1650C>G (p.Phe550Leu)
c.*160C>G (n.*160C>G)
c.1920C>G (p.Phe640Leu)
c.1395C>G (p.Phe465Leu)
c.1638C>G (p.Phe546Leu)
c.*170C>G (n.*170C>G)
c.1881C>G (p.Phe627Leu)
c.1929C>G (p.Phe643Leu)
c.1926C>G (p.Phe642Leu)
c.1893C>G (p.Phe631Leu)
 dbSNP
3g.189894391C>TCA437637205TP63c.1932C>T (p.Phe644=)
c.1650C>T (p.Phe550=)
c.*160C>T (n.*160C>T)
c.1920C>T (p.Phe640=)
c.1395C>T (p.Phe465=)
c.1638C>T (p.Phe546=)
c.*170C>T (n.*170C>T)
c.1881C>T (p.Phe627=)
c.1929C>T (p.Phe643=)
c.1926C>T (p.Phe642=)
c.1893C>T (p.Phe631=)
 dbSNP
3g.189894392A=CA1428535271TP63c.1933A= (p.Thr645=)
c.1651A= (p.Thr551=)
c.*161A= (n.*161A=)
c.1921A= (p.Thr641=)
c.1396A= (p.Thr466=)
c.1639A= (p.Thr547=)
c.*171A= (n.*171A=)
c.1882A= (p.Thr628=)
c.1930A= (p.Thr644=)
c.1927A= (p.Thr643=)
c.1894A= (p.Thr632=)
3g.189894392A>CCA355751504TP63c.1933A>C (p.Thr645Pro)
c.1651A>C (p.Thr551Pro)
c.*161A>C (n.*161A>C)
c.1921A>C (p.Thr641Pro)
c.1396A>C (p.Thr466Pro)
c.1639A>C (p.Thr547Pro)
c.*171A>C (n.*171A>C)
c.1882A>C (p.Thr628Pro)
c.1930A>C (p.Thr644Pro)
c.1927A>C (p.Thr643Pro)
c.1894A>C (p.Thr632Pro)
 dbSNP
3g.189894392A>GCA355751503TP63c.1933A>G (p.Thr645Ala)
c.1651A>G (p.Thr551Ala)
c.*161A>G (n.*161A>G)
c.1921A>G (p.Thr641Ala)
c.1396A>G (p.Thr466Ala)
c.1639A>G (p.Thr547Ala)
c.*171A>G (n.*171A>G)
c.1882A>G (p.Thr628Ala)
c.1930A>G (p.Thr644Ala)
c.1927A>G (p.Thr643Ala)
c.1894A>G (p.Thr632Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.189894392A>TCA355751502TP63c.1933A>T (p.Thr645Ser)
c.1651A>T (p.Thr551Ser)
c.*161A>T (n.*161A>T)
c.1921A>T (p.Thr641Ser)
c.1396A>T (p.Thr466Ser)
c.1639A>T (p.Thr547Ser)
c.*171A>T (n.*171A>T)
c.1882A>T (p.Thr628Ser)
c.1930A>T (p.Thr644Ser)
c.1927A>T (p.Thr643Ser)
c.1894A>T (p.Thr632Ser)
 dbSNP
3g.189894393C>ACA355751505TP63c.1934C>A (p.Thr645Asn)
c.1652C>A (p.Thr551Asn)
c.*162C>A (n.*162C>A)
c.1922C>A (p.Thr641Asn)
c.1397C>A (p.Thr466Asn)
c.1640C>A (p.Thr547Asn)
c.*172C>A (n.*172C>A)
c.1883C>A (p.Thr628Asn)
c.1931C>A (p.Thr644Asn)
c.1928C>A (p.Thr643Asn)
c.1895C>A (p.Thr632Asn)
 dbSNP
3g.189894393C>GCA355751506TP63c.1934C>G (p.Thr645Ser)
c.1652C>G (p.Thr551Ser)
c.*162C>G (n.*162C>G)
c.1922C>G (p.Thr641Ser)
c.1397C>G (p.Thr466Ser)
c.1640C>G (p.Thr547Ser)
c.*172C>G (n.*172C>G)
c.1883C>G (p.Thr628Ser)
c.1931C>G (p.Thr644Ser)
c.1928C>G (p.Thr643Ser)
c.1895C>G (p.Thr632Ser)
 dbSNP gnomAD v4
3g.189894393C>TCA355751507TP63c.1934C>T (p.Thr645Ile)
c.1652C>T (p.Thr551Ile)
c.*162C>T (n.*162C>T)
c.1922C>T (p.Thr641Ile)
c.1397C>T (p.Thr466Ile)
c.1640C>T (p.Thr547Ile)
c.*172C>T (n.*172C>T)
c.1883C>T (p.Thr628Ile)
c.1931C>T (p.Thr644Ile)
c.1928C>T (p.Thr643Ile)
c.1895C>T (p.Thr632Ile)
 dbSNP
3g.189894393_189894394delinsTTCA645537855TP63c.1934_1935delinsTT (p.Thr645Ile)
c.1652_1653delinsTT (p.Thr551Ile)
c.*162_*163delinsTT (n.*162_*163delinsTT)
c.1922_1923delinsTT (p.Thr641Ile)
c.1397_1398delinsTT (p.Thr466Ile)
c.1640_1641delinsTT (p.Thr547Ile)
c.*172_*173delinsTT (n.*172_*173delinsTT)
c.1883_1884delinsTT (p.Thr628Ile)
c.1931_1932delinsTT (p.Thr644Ile)
c.1928_1929delinsTT (p.Thr643Ile)
c.1895_1896delinsTT (p.Thr632Ile)
 COSMIC
3g.189894394C>ACA437637209TP63c.1935C>A (p.Thr645=)
c.1653C>A (p.Thr551=)
c.*163C>A (n.*163C>A)
c.1923C>A (p.Thr641=)
c.1398C>A (p.Thr466=)
c.1641C>A (p.Thr547=)
c.*173C>A (n.*173C>A)
c.1884C>A (p.Thr628=)
c.1932C>A (p.Thr644=)
c.1929C>A (p.Thr643=)
c.1896C>A (p.Thr632=)
 dbSNP
3g.189894394C>GCA437637210TP63c.1935C>G (p.Thr645=)
c.1653C>G (p.Thr551=)
c.*163C>G (n.*163C>G)
c.1923C>G (p.Thr641=)
c.1398C>G (p.Thr466=)
c.1641C>G (p.Thr547=)
c.*173C>G (n.*173C>G)
c.1884C>G (p.Thr628=)
c.1932C>G (p.Thr644=)
c.1929C>G (p.Thr643=)
c.1896C>G (p.Thr632=)
 dbSNP
3g.189894394C>TCA437637212TP63c.1935C>T (p.Thr645=)
c.1653C>T (p.Thr551=)
c.*163C>T (n.*163C>T)
c.1923C>T (p.Thr641=)
c.1398C>T (p.Thr466=)
c.1641C>T (p.Thr547=)
c.*173C>T (n.*173C>T)
c.1884C>T (p.Thr628=)
c.1932C>T (p.Thr644=)
c.1929C>T (p.Thr643=)
c.1896C>T (p.Thr632=)
 dbSNP gnomAD v4
3g.189894395C>ACA355751508TP63c.1936C>A (p.Leu646Ile)
c.1654C>A (p.Leu552Ile)
c.*164C>A (n.*164C>A)
c.1924C>A (p.Leu642Ile)
c.1399C>A (p.Leu467Ile)
c.1642C>A (p.Leu548Ile)
c.*174C>A (n.*174C>A)
c.1885C>A (p.Leu629Ile)
c.1933C>A (p.Leu645Ile)
c.1930C>A (p.Leu644Ile)
c.1897C>A (p.Leu633Ile)
 dbSNP
3g.189894395C=CA1428535272TP63c.1936C= (p.Leu646=)
c.1654C= (p.Leu552=)
c.*164C= (n.*164C=)
c.1924C= (p.Leu642=)
c.1399C= (p.Leu467=)
c.1642C= (p.Leu548=)
c.*174C= (n.*174C=)
c.1885C= (p.Leu629=)
c.1933C= (p.Leu645=)
c.1930C= (p.Leu644=)
c.1897C= (p.Leu633=)
3g.189894395C>GCA355751509TP63c.1936C>G (p.Leu646Val)
c.1654C>G (p.Leu552Val)
c.*164C>G (n.*164C>G)
c.1924C>G (p.Leu642Val)
c.1399C>G (p.Leu467Val)
c.1642C>G (p.Leu548Val)
c.*174C>G (n.*174C>G)
c.1885C>G (p.Leu629Val)
c.1933C>G (p.Leu645Val)
c.1930C>G (p.Leu644Val)
c.1897C>G (p.Leu633Val)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189894395C>TCA355751510TP63c.1936C>T (p.Leu646Phe)
c.1654C>T (p.Leu552Phe)
c.*164C>T (n.*164C>T)
c.1924C>T (p.Leu642Phe)
c.1399C>T (p.Leu467Phe)
c.1642C>T (p.Leu548Phe)
c.*174C>T (n.*174C>T)
c.1885C>T (p.Leu629Phe)
c.1933C>T (p.Leu645Phe)
c.1930C>T (p.Leu644Phe)
c.1897C>T (p.Leu633Phe)
 dbSNP
3g.189894396T>ACA355751513TP63c.1937T>A (p.Leu646His)
c.1655T>A (p.Leu552His)
c.*165T>A (n.*165T>A)
c.1925T>A (p.Leu642His)
c.1400T>A (p.Leu467His)
c.1643T>A (p.Leu548His)
c.*175T>A (n.*175T>A)
c.1886T>A (p.Leu629His)
c.1934T>A (p.Leu645His)
c.1931T>A (p.Leu644His)
c.1898T>A (p.Leu633His)
 dbSNP
3g.189894396T>CCA355751512TP63c.1937T>C (p.Leu646Pro)
c.1655T>C (p.Leu552Pro)
c.*165T>C (n.*165T>C)
c.1925T>C (p.Leu642Pro)
c.1400T>C (p.Leu467Pro)
c.1643T>C (p.Leu548Pro)
c.*175T>C (n.*175T>C)
c.1886T>C (p.Leu629Pro)
c.1934T>C (p.Leu645Pro)
c.1931T>C (p.Leu644Pro)
c.1898T>C (p.Leu633Pro)
 dbSNP
3g.189894396T>GCA355751511TP63c.1937T>G (p.Leu646Arg)
c.1655T>G (p.Leu552Arg)
c.*165T>G (n.*165T>G)
c.1925T>G (p.Leu642Arg)
c.1400T>G (p.Leu467Arg)
c.1643T>G (p.Leu548Arg)
c.*175T>G (n.*175T>G)
c.1886T>G (p.Leu629Arg)
c.1934T>G (p.Leu645Arg)
c.1931T>G (p.Leu644Arg)
c.1898T>G (p.Leu633Arg)
3g.189894397C>ACA437637215TP63c.1938C>A (p.Leu646=)
c.1656C>A (p.Leu552=)
c.*166C>A (n.*166C>A)
c.1926C>A (p.Leu642=)
c.1401C>A (p.Leu467=)
c.1644C>A (p.Leu548=)
c.*176C>A (n.*176C>A)
c.1887C>A (p.Leu629=)
c.1935C>A (p.Leu645=)
c.1932C>A (p.Leu644=)
c.1899C>A (p.Leu633=)
 dbSNP
3g.189894397C=CA1428535273TP63c.1938C= (p.Leu646=)
c.1656C= (p.Leu552=)
c.*166C= (n.*166C=)
c.1926C= (p.Leu642=)
c.1401C= (p.Leu467=)
c.1644C= (p.Leu548=)
c.*176C= (n.*176C=)
c.1887C= (p.Leu629=)
c.1935C= (p.Leu645=)
c.1932C= (p.Leu644=)
c.1899C= (p.Leu633=)
3g.189894397C>GCA437637216TP63c.1938C>G (p.Leu646=)
c.1656C>G (p.Leu552=)
c.*166C>G (n.*166C>G)
c.1926C>G (p.Leu642=)
c.1401C>G (p.Leu467=)
c.1644C>G (p.Leu548=)
c.*176C>G (n.*176C>G)
c.1887C>G (p.Leu629=)
c.1935C>G (p.Leu645=)
c.1932C>G (p.Leu644=)
c.1899C>G (p.Leu633=)
 dbSNP
3g.189894397C>TCA437637217TP63c.1938C>T (p.Leu646=)
c.1656C>T (p.Leu552=)
c.*166C>T (n.*166C>T)
c.1926C>T (p.Leu642=)
c.1401C>T (p.Leu467=)
c.1644C>T (p.Leu548=)
c.*176C>T (n.*176C>T)
c.1887C>T (p.Leu629=)
c.1935C>T (p.Leu645=)
c.1932C>T (p.Leu644=)
c.1899C>T (p.Leu633=)
 dbSNP COSMIC COSMIC
3g.189894398C>ACA355751514TP63c.1939C>A (p.Arg647Ser)
c.1657C>A (p.Arg553Ser)
c.*167C>A (n.*167C>A)
c.1927C>A (p.Arg643Ser)
c.1402C>A (p.Arg468Ser)
c.1645C>A (p.Arg549Ser)
c.*177C>A (n.*177C>A)
c.1888C>A (p.Arg630Ser)
c.1936C>A (p.Arg646Ser)
c.1933C>A (p.Arg645Ser)
c.1900C>A (p.Arg634Ser)
 dbSNP
3g.189894398C=CA1428535274TP63c.1939C= (p.Arg647=)
c.1657C= (p.Arg553=)
c.*167C= (n.*167C=)
c.1927C= (p.Arg643=)
c.1402C= (p.Arg468=)
c.1645C= (p.Arg549=)
c.*177C= (n.*177C=)
c.1888C= (p.Arg630=)
c.1936C= (p.Arg646=)
c.1933C= (p.Arg645=)
c.1900C= (p.Arg634=)
3g.189894398C>GCA355751515TP63c.1939C>G (p.Arg647Gly)
c.1657C>G (p.Arg553Gly)
c.*167C>G (n.*167C>G)
c.1927C>G (p.Arg643Gly)
c.1402C>G (p.Arg468Gly)
c.1645C>G (p.Arg549Gly)
c.*177C>G (n.*177C>G)
c.1888C>G (p.Arg630Gly)
c.1936C>G (p.Arg646Gly)
c.1933C>G (p.Arg645Gly)
c.1900C>G (p.Arg634Gly)
 dbSNP
3g.189894398C>TCA89713324TP63c.1939C>T (p.Arg647Cys)
c.1657C>T (p.Arg553Cys)
c.*167C>T (n.*167C>T)
c.1927C>T (p.Arg643Cys)
c.1402C>T (p.Arg468Cys)
c.1645C>T (p.Arg549Cys)
c.*177C>T (n.*177C>T)
c.1888C>T (p.Arg630Cys)
c.1936C>T (p.Arg646Cys)
c.1933C>T (p.Arg645Cys)
c.1900C>T (p.Arg634Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189894399G>ACA89713326TP63c.1940G>A (p.Arg647His)
c.1658G>A (p.Arg553His)
c.*168G>A (n.*168G>A)
c.1928G>A (p.Arg643His)
c.1403G>A (p.Arg468His)
c.1646G>A (p.Arg549His)
c.*178G>A (n.*178G>A)
c.1889G>A (p.Arg630His)
c.1937G>A (p.Arg646His)
c.1934G>A (p.Arg645His)
c.1901G>A (p.Arg634His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894399G>CCA355751516TP63c.1940G>C (p.Arg647Pro)
c.1658G>C (p.Arg553Pro)
c.*168G>C (n.*168G>C)
c.1928G>C (p.Arg643Pro)
c.1403G>C (p.Arg468Pro)
c.1646G>C (p.Arg549Pro)
c.*178G>C (n.*178G>C)
c.1889G>C (p.Arg630Pro)
c.1937G>C (p.Arg646Pro)
c.1934G>C (p.Arg645Pro)
c.1901G>C (p.Arg634Pro)
3g.189894399G=CA1428535275TP63c.1940G= (p.Arg647=)
c.1658G= (p.Arg553=)
c.*168G= (n.*168G=)
c.1928G= (p.Arg643=)
c.1403G= (p.Arg468=)
c.1646G= (p.Arg549=)
c.*178G= (n.*178G=)
c.1889G= (p.Arg630=)
c.1937G= (p.Arg646=)
c.1934G= (p.Arg645=)
c.1901G= (p.Arg634=)
3g.189894399G>TCA355751517TP63c.1940G>T (p.Arg647Leu)
c.1658G>T (p.Arg553Leu)
c.*168G>T (n.*168G>T)
c.1928G>T (p.Arg643Leu)
c.1403G>T (p.Arg468Leu)
c.1646G>T (p.Arg549Leu)
c.*178G>T (n.*178G>T)
c.1889G>T (p.Arg630Leu)
c.1937G>T (p.Arg646Leu)
c.1934G>T (p.Arg645Leu)
c.1901G>T (p.Arg634Leu)
 gnomAD v4
3g.189894400C>ACA437637219TP63c.1941C>A (p.Arg647=)
c.1659C>A (p.Arg553=)
c.*169C>A (n.*169C>A)
c.1929C>A (p.Arg643=)
c.1404C>A (p.Arg468=)
c.1647C>A (p.Arg549=)
c.*179C>A (n.*179C>A)
c.1890C>A (p.Arg630=)
c.1938C>A (p.Arg646=)
c.1935C>A (p.Arg645=)
c.1902C>A (p.Arg634=)
 dbSNP
3g.189894400C>GCA437637223TP63c.1941C>G (p.Arg647=)
c.1659C>G (p.Arg553=)
c.*169C>G (n.*169C>G)
c.1929C>G (p.Arg643=)
c.1404C>G (p.Arg468=)
c.1647C>G (p.Arg549=)
c.*179C>G (n.*179C>G)
c.1890C>G (p.Arg630=)
c.1938C>G (p.Arg646=)
c.1935C>G (p.Arg645=)
c.1902C>G (p.Arg634=)
 dbSNP
3g.189894400C>TCA437637218TP63c.1941C>T (p.Arg647=)
c.1659C>T (p.Arg553=)
c.*169C>T (n.*169C>T)
c.1929C>T (p.Arg643=)
c.1404C>T (p.Arg468=)
c.1647C>T (p.Arg549=)
c.*179C>T (n.*179C>T)
c.1890C>T (p.Arg630=)
c.1938C>T (p.Arg646=)
c.1935C>T (p.Arg645=)
c.1902C>T (p.Arg634=)
 dbSNP gnomAD v4
3g.189894401C>ACA355751518TP63c.1942C>A (p.Gln648Lys)
c.1660C>A (p.Gln554Lys)
c.*170C>A (n.*170C>A)
c.1930C>A (p.Gln644Lys)
c.1405C>A (p.Gln469Lys)
c.1648C>A (p.Gln550Lys)
c.*180C>A (n.*180C>A)
c.1891C>A (p.Gln631Lys)
c.1939C>A (p.Gln647Lys)
c.1936C>A (p.Gln646Lys)
c.1903C>A (p.Gln635Lys)
 dbSNP
3g.189894401C>GCA355751520TP63c.1942C>G (p.Gln648Glu)
c.1660C>G (p.Gln554Glu)
c.*170C>G (n.*170C>G)
c.1930C>G (p.Gln644Glu)
c.1405C>G (p.Gln469Glu)
c.1648C>G (p.Gln550Glu)
c.*180C>G (n.*180C>G)
c.1891C>G (p.Gln631Glu)
c.1939C>G (p.Gln647Glu)
c.1936C>G (p.Gln646Glu)
c.1903C>G (p.Gln635Glu)
 dbSNP
3g.189894401C>TCA355751519TP63c.1942C>T (p.Gln648Ter)
c.1660C>T (p.Gln554Ter)
c.*170C>T (n.*170C>T)
c.1930C>T (p.Gln644Ter)
c.1405C>T (p.Gln469Ter)
c.1648C>T (p.Gln550Ter)
c.*180C>T (n.*180C>T)
c.1891C>T (p.Gln631Ter)
c.1939C>T (p.Gln647Ter)
c.1936C>T (p.Gln646Ter)
c.1903C>T (p.Gln635Ter)
3g.189894402A>CCA355751521TP63c.1943A>C (p.Gln648Pro)
c.1661A>C (p.Gln554Pro)
c.*171A>C (n.*171A>C)
c.1931A>C (p.Gln644Pro)
c.1406A>C (p.Gln469Pro)
c.1649A>C (p.Gln550Pro)
c.*181A>C (n.*181A>C)
c.1892A>C (p.Gln631Pro)
c.1940A>C (p.Gln647Pro)
c.1937A>C (p.Gln646Pro)
c.1904A>C (p.Gln635Pro)
3g.189894402A>GCA355751522TP63c.1943A>G (p.Gln648Arg)
c.1661A>G (p.Gln554Arg)
c.*171A>G (n.*171A>G)
c.1931A>G (p.Gln644Arg)
c.1406A>G (p.Gln469Arg)
c.1649A>G (p.Gln550Arg)
c.*181A>G (n.*181A>G)
c.1892A>G (p.Gln631Arg)
c.1940A>G (p.Gln647Arg)
c.1937A>G (p.Gln646Arg)
c.1904A>G (p.Gln635Arg)
 dbSNP
3g.189894402A>TCA355751523TP63c.1943A>T (p.Gln648Leu)
c.1661A>T (p.Gln554Leu)
c.*171A>T (n.*171A>T)
c.1931A>T (p.Gln644Leu)
c.1406A>T (p.Gln469Leu)
c.1649A>T (p.Gln550Leu)
c.*181A>T (n.*181A>T)
c.1892A>T (p.Gln631Leu)
c.1940A>T (p.Gln647Leu)
c.1937A>T (p.Gln646Leu)
c.1904A>T (p.Gln635Leu)
 dbSNP
3g.189894403G>ACA437637228TP63c.1944G>A (p.Gln648=)
c.1662G>A (p.Gln554=)
c.*172G>A (n.*172G>A)
c.1932G>A (p.Gln644=)
c.1407G>A (p.Gln469=)
c.1650G>A (p.Gln550=)
c.*182G>A (n.*182G>A)
c.1893G>A (p.Gln631=)
c.1941G>A (p.Gln647=)
c.1938G>A (p.Gln646=)
c.1905G>A (p.Gln635=)
 dbSNP gnomAD v4
3g.189894403G>CCA355751524TP63c.1944G>C (p.Gln648His)
c.1662G>C (p.Gln554His)
c.*172G>C (n.*172G>C)
c.1932G>C (p.Gln644His)
c.1407G>C (p.Gln469His)
c.1650G>C (p.Gln550His)
c.*182G>C (n.*182G>C)
c.1893G>C (p.Gln631His)
c.1941G>C (p.Gln647His)
c.1938G>C (p.Gln646His)
c.1905G>C (p.Gln635His)
 dbSNP
3g.189894403G=CA1428535276TP63c.1944G= (p.Gln648=)
c.1662G= (p.Gln554=)
c.*172G= (n.*172G=)
c.1932G= (p.Gln644=)
c.1407G= (p.Gln469=)
c.1650G= (p.Gln550=)
c.*182G= (n.*182G=)
c.1893G= (p.Gln631=)
c.1941G= (p.Gln647=)
c.1938G= (p.Gln646=)
c.1905G= (p.Gln635=)
3g.189894403G>TCA355751525TP63c.1944G>T (p.Gln648His)
c.1662G>T (p.Gln554His)
c.*172G>T (n.*172G>T)
c.1932G>T (p.Gln644His)
c.1407G>T (p.Gln469His)
c.1650G>T (p.Gln550His)
c.*182G>T (n.*182G>T)
c.1893G>T (p.Gln631His)
c.1941G>T (p.Gln647His)
c.1938G>T (p.Gln646His)
c.1905G>T (p.Gln635His)
3g.189894404A>CCA355751526TP63c.1945A>C (p.Thr649Pro)
c.1663A>C (p.Thr555Pro)
c.*173A>C (n.*173A>C)
c.1933A>C (p.Thr645Pro)
c.1408A>C (p.Thr470Pro)
c.1651A>C (p.Thr551Pro)
c.*183A>C (n.*183A>C)
c.1894A>C (p.Thr632Pro)
c.1942A>C (p.Thr648Pro)
c.1939A>C (p.Thr647Pro)
c.1906A>C (p.Thr636Pro)
3g.189894404A>GCA355751527TP63c.1945A>G (p.Thr649Ala)
c.1663A>G (p.Thr555Ala)
c.*173A>G (n.*173A>G)
c.1933A>G (p.Thr645Ala)
c.1408A>G (p.Thr470Ala)
c.1651A>G (p.Thr551Ala)
c.*183A>G (n.*183A>G)
c.1894A>G (p.Thr632Ala)
c.1942A>G (p.Thr648Ala)
c.1939A>G (p.Thr647Ala)
c.1906A>G (p.Thr636Ala)
3g.189894404A>TCA355751528TP63c.1945A>T (p.Thr649Ser)
c.1663A>T (p.Thr555Ser)
c.*173A>T (n.*173A>T)
c.1933A>T (p.Thr645Ser)
c.1408A>T (p.Thr470Ser)
c.1651A>T (p.Thr551Ser)
c.*183A>T (n.*183A>T)
c.1894A>T (p.Thr632Ser)
c.1942A>T (p.Thr648Ser)
c.1939A>T (p.Thr647Ser)
c.1906A>T (p.Thr636Ser)
3g.189894405C>ACA355751529TP63c.1946C>A (p.Thr649Asn)
c.1664C>A (p.Thr555Asn)
c.*174C>A (n.*174C>A)
c.1934C>A (p.Thr645Asn)
c.1409C>A (p.Thr470Asn)
c.1652C>A (p.Thr551Asn)
c.*184C>A (n.*184C>A)
c.1895C>A (p.Thr632Asn)
c.1943C>A (p.Thr648Asn)
c.1940C>A (p.Thr647Asn)
c.1907C>A (p.Thr636Asn)
 dbSNP
3g.189894405C=CA1428535277TP63c.1946C= (p.Thr649=)
c.1664C= (p.Thr555=)
c.*174C= (n.*174C=)
c.1934C= (p.Thr645=)
c.1409C= (p.Thr470=)
c.1652C= (p.Thr551=)
c.*184C= (n.*184C=)
c.1895C= (p.Thr632=)
c.1943C= (p.Thr648=)
c.1940C= (p.Thr647=)
c.1907C= (p.Thr636=)
3g.189894405C>GCA355751530TP63c.1946C>G (p.Thr649Ser)
c.1664C>G (p.Thr555Ser)
c.*174C>G (n.*174C>G)
c.1934C>G (p.Thr645Ser)
c.1409C>G (p.Thr470Ser)
c.1652C>G (p.Thr551Ser)
c.*184C>G (n.*184C>G)
c.1895C>G (p.Thr632Ser)
c.1943C>G (p.Thr648Ser)
c.1940C>G (p.Thr647Ser)
c.1907C>G (p.Thr636Ser)
 dbSNP
3g.189894405C>TCA2752599TP63c.1946C>T (p.Thr649Ile)
c.1664C>T (p.Thr555Ile)
c.*174C>T (n.*174C>T)
c.1934C>T (p.Thr645Ile)
c.1409C>T (p.Thr470Ile)
c.1652C>T (p.Thr551Ile)
c.*184C>T (n.*184C>T)
c.1895C>T (p.Thr632Ile)
c.1943C>T (p.Thr648Ile)
c.1940C>T (p.Thr647Ile)
c.1907C>T (p.Thr636Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894406delCA2704981753TP63c.1947del (p.Ile650SerfsTer?)
c.1665del (p.Ile556SerfsTer?)
c.*175del (n.*175del)
c.1935del (p.Ile646SerfsTer?)
c.1410del (p.Ile471SerfsTer?)
c.1653del (p.Ile552SerfsTer?)
c.*185del (n.*185del)
c.1896del (p.Ile633SerfsTer?)
c.1944del (p.Ile649SerfsTer?)
c.1941del (p.Ile648SerfsTer?)
c.1908del (p.Ile637SerfsTer?)
 dbSNP
3g.189894406C>ACA437637229TP63c.1947C>A (p.Thr649=)
c.1665C>A (p.Thr555=)
c.*175C>A (n.*175C>A)
c.1935C>A (p.Thr645=)
c.1410C>A (p.Thr470=)
c.1653C>A (p.Thr551=)
c.*185C>A (n.*185C>A)
c.1896C>A (p.Thr632=)
c.1944C>A (p.Thr648=)
c.1941C>A (p.Thr647=)
c.1908C>A (p.Thr636=)
 dbSNP
3g.189894406C=CA1428535278TP63c.1947C= (p.Thr649=)
c.1665C= (p.Thr555=)
c.*175C= (n.*175C=)
c.1935C= (p.Thr645=)
c.1410C= (p.Thr470=)
c.1653C= (p.Thr551=)
c.*185C= (n.*185C=)
c.1896C= (p.Thr632=)
c.1944C= (p.Thr648=)
c.1941C= (p.Thr647=)
c.1908C= (p.Thr636=)
3g.189894406C>GCA437637230TP63c.1947C>G (p.Thr649=)
c.1665C>G (p.Thr555=)
c.*175C>G (n.*175C>G)
c.1935C>G (p.Thr645=)
c.1410C>G (p.Thr470=)
c.1653C>G (p.Thr551=)
c.*185C>G (n.*185C>G)
c.1896C>G (p.Thr632=)
c.1944C>G (p.Thr648=)
c.1941C>G (p.Thr647=)
c.1908C>G (p.Thr636=)
 dbSNP
3g.189894406C>TCA2752600TP63c.1947C>T (p.Thr649=)
c.1665C>T (p.Thr555=)
c.*175C>T (n.*175C>T)
c.1935C>T (p.Thr645=)
c.1410C>T (p.Thr470=)
c.1653C>T (p.Thr551=)
c.*185C>T (n.*185C>T)
c.1896C>T (p.Thr632=)
c.1944C>T (p.Thr648=)
c.1941C>T (p.Thr647=)
c.1908C>T (p.Thr636=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894407A=CA1428535279TP63c.1948A= (p.Ile650=)
c.1666A= (p.Ile556=)
c.*176A= (n.*176A=)
c.1936A= (p.Ile646=)
c.1411A= (p.Ile471=)
c.1654A= (p.Ile552=)
c.*186A= (n.*186A=)
c.1897A= (p.Ile633=)
c.1945A= (p.Ile649=)
c.1942A= (p.Ile648=)
c.1909A= (p.Ile637=)
3g.189894407A>CCA355751531TP63c.1948A>C (p.Ile650Leu)
c.1666A>C (p.Ile556Leu)
c.*176A>C (n.*176A>C)
c.1936A>C (p.Ile646Leu)
c.1411A>C (p.Ile471Leu)
c.1654A>C (p.Ile552Leu)
c.*186A>C (n.*186A>C)
c.1897A>C (p.Ile633Leu)
c.1945A>C (p.Ile649Leu)
c.1942A>C (p.Ile648Leu)
c.1909A>C (p.Ile637Leu)
 dbSNP
3g.189894407A>GCA89713339TP63c.1948A>G (p.Ile650Val)
c.1666A>G (p.Ile556Val)
c.*176A>G (n.*176A>G)
c.1936A>G (p.Ile646Val)
c.1411A>G (p.Ile471Val)
c.1654A>G (p.Ile552Val)
c.*186A>G (n.*186A>G)
c.1897A>G (p.Ile633Val)
c.1945A>G (p.Ile649Val)
c.1942A>G (p.Ile648Val)
c.1909A>G (p.Ile637Val)
 dbSNP gnomAD v4
3g.189894407A>TCA355751532TP63c.1948A>T (p.Ile650Phe)
c.1666A>T (p.Ile556Phe)
c.*176A>T (n.*176A>T)
c.1936A>T (p.Ile646Phe)
c.1411A>T (p.Ile471Phe)
c.1654A>T (p.Ile552Phe)
c.*186A>T (n.*186A>T)
c.1897A>T (p.Ile633Phe)
c.1945A>T (p.Ile649Phe)
c.1942A>T (p.Ile648Phe)
c.1909A>T (p.Ile637Phe)
 dbSNP
3g.189894408T>ACA355751533TP63c.1949T>A (p.Ile650Asn)
c.1667T>A (p.Ile556Asn)
c.*177T>A (n.*177T>A)
c.1937T>A (p.Ile646Asn)
c.1412T>A (p.Ile471Asn)
c.1655T>A (p.Ile552Asn)
c.*187T>A (n.*187T>A)
c.1898T>A (p.Ile633Asn)
c.1946T>A (p.Ile649Asn)
c.1943T>A (p.Ile648Asn)
c.1910T>A (p.Ile637Asn)
3g.189894408T>CCA355751534TP63c.1949T>C (p.Ile650Thr)
c.1667T>C (p.Ile556Thr)
c.*177T>C (n.*177T>C)
c.1937T>C (p.Ile646Thr)
c.1412T>C (p.Ile471Thr)
c.1655T>C (p.Ile552Thr)
c.*187T>C (n.*187T>C)
c.1898T>C (p.Ile633Thr)
c.1946T>C (p.Ile649Thr)
c.1943T>C (p.Ile648Thr)
c.1910T>C (p.Ile637Thr)
 dbSNP
3g.189894408T>GCA355751535TP63c.1949T>G (p.Ile650Ser)
c.1667T>G (p.Ile556Ser)
c.*177T>G (n.*177T>G)
c.1937T>G (p.Ile646Ser)
c.1412T>G (p.Ile471Ser)
c.1655T>G (p.Ile552Ser)
c.*187T>G (n.*187T>G)
c.1898T>G (p.Ile633Ser)
c.1946T>G (p.Ile649Ser)
c.1943T>G (p.Ile648Ser)
c.1910T>G (p.Ile637Ser)
3g.189894409C>ACA437637234TP63c.1950C>A (p.Ile650=)
c.1668C>A (p.Ile556=)
c.*178C>A (n.*178C>A)
c.1938C>A (p.Ile646=)
c.1413C>A (p.Ile471=)
c.1656C>A (p.Ile552=)
c.*188C>A (n.*188C>A)
c.1899C>A (p.Ile633=)
c.1947C>A (p.Ile649=)
c.1944C>A (p.Ile648=)
c.1911C>A (p.Ile637=)
 dbSNP
3g.189894409C=CA1428535280TP63c.1950C= (p.Ile650=)
c.1668C= (p.Ile556=)
c.*178C= (n.*178C=)
c.1938C= (p.Ile646=)
c.1413C= (p.Ile471=)
c.1656C= (p.Ile552=)
c.*188C= (n.*188C=)
c.1899C= (p.Ile633=)
c.1947C= (p.Ile649=)
c.1944C= (p.Ile648=)
c.1911C= (p.Ile637=)
3g.189894409C>GCA89713343TP63c.1950C>G (p.Ile650Met)
c.1668C>G (p.Ile556Met)
c.*178C>G (n.*178C>G)
c.1938C>G (p.Ile646Met)
c.1413C>G (p.Ile471Met)
c.1656C>G (p.Ile552Met)
c.*188C>G (n.*188C>G)
c.1899C>G (p.Ile633Met)
c.1947C>G (p.Ile649Met)
c.1944C>G (p.Ile648Met)
c.1911C>G (p.Ile637Met)
 dbSNP gnomAD v3 gnomAD v4
3g.189894409C>TCA437637236TP63c.1950C>T (p.Ile650=)
c.1668C>T (p.Ile556=)
c.*178C>T (n.*178C>T)
c.1938C>T (p.Ile646=)
c.1413C>T (p.Ile471=)
c.1656C>T (p.Ile552=)
c.*188C>T (n.*188C>T)
c.1899C>T (p.Ile633=)
c.1947C>T (p.Ile649=)
c.1944C>T (p.Ile648=)
c.1911C>T (p.Ile637=)
3g.189894410T>ACA355751537TP63c.1951T>A (p.Ser651Thr)
c.1669T>A (p.Ser557Thr)
c.*179T>A (n.*179T>A)
c.1939T>A (p.Ser647Thr)
c.1414T>A (p.Ser472Thr)
c.1657T>A (p.Ser553Thr)
c.*189T>A (n.*189T>A)
c.1900T>A (p.Ser634Thr)
c.1948T>A (p.Ser650Thr)
c.1945T>A (p.Ser649Thr)
c.1912T>A (p.Ser638Thr)
 dbSNP
3g.189894410T>CCA355751538TP63c.1951T>C (p.Ser651Pro)
c.1669T>C (p.Ser557Pro)
c.*179T>C (n.*179T>C)
c.1939T>C (p.Ser647Pro)
c.1414T>C (p.Ser472Pro)
c.1657T>C (p.Ser553Pro)
c.*189T>C (n.*189T>C)
c.1900T>C (p.Ser634Pro)
c.1948T>C (p.Ser650Pro)
c.1945T>C (p.Ser649Pro)
c.1912T>C (p.Ser638Pro)
3g.189894410T>GCA355751539TP63c.1951T>G (p.Ser651Ala)
c.1669T>G (p.Ser557Ala)
c.*179T>G (n.*179T>G)
c.1939T>G (p.Ser647Ala)
c.1414T>G (p.Ser472Ala)
c.1657T>G (p.Ser553Ala)
c.*189T>G (n.*189T>G)
c.1900T>G (p.Ser634Ala)
c.1948T>G (p.Ser650Ala)
c.1945T>G (p.Ser649Ala)
c.1912T>G (p.Ser638Ala)
3g.189894411C>ACA355751540TP63c.1952C>A (p.Ser651Tyr)
c.1670C>A (p.Ser557Tyr)
c.*180C>A (n.*180C>A)
c.1940C>A (p.Ser647Tyr)
c.1415C>A (p.Ser472Tyr)
c.1658C>A (p.Ser553Tyr)
c.*190C>A (n.*190C>A)
c.1901C>A (p.Ser634Tyr)
c.1949C>A (p.Ser650Tyr)
c.1946C>A (p.Ser649Tyr)
c.1913C>A (p.Ser638Tyr)
3g.189894411C=CA1428535281TP63c.1952C= (p.Ser651=)
c.1670C= (p.Ser557=)
c.*180C= (n.*180C=)
c.1940C= (p.Ser647=)
c.1415C= (p.Ser472=)
c.1658C= (p.Ser553=)
c.*190C= (n.*190C=)
c.1901C= (p.Ser634=)
c.1949C= (p.Ser650=)
c.1946C= (p.Ser649=)
c.1913C= (p.Ser638=)
3g.189894411C>GCA355751541TP63c.1952C>G (p.Ser651Cys)
c.1670C>G (p.Ser557Cys)
c.*180C>G (n.*180C>G)
c.1940C>G (p.Ser647Cys)
c.1415C>G (p.Ser472Cys)
c.1658C>G (p.Ser553Cys)
c.*190C>G (n.*190C>G)
c.1901C>G (p.Ser634Cys)
c.1949C>G (p.Ser650Cys)
c.1946C>G (p.Ser649Cys)
c.1913C>G (p.Ser638Cys)
 COSMIC COSMIC
3g.189894411C>TCA355751542TP63c.1952C>T (p.Ser651Phe)
c.1670C>T (p.Ser557Phe)
c.*180C>T (n.*180C>T)
c.1940C>T (p.Ser647Phe)
c.1415C>T (p.Ser472Phe)
c.1658C>T (p.Ser553Phe)
c.*190C>T (n.*190C>T)
c.1901C>T (p.Ser634Phe)
c.1949C>T (p.Ser650Phe)
c.1946C>T (p.Ser649Phe)
c.1913C>T (p.Ser638Phe)
 gnomAD v4
3g.189894412T>ACA437637242TP63c.1953T>A (p.Ser651=)
c.1671T>A (p.Ser557=)
c.*181T>A (n.*181T>A)
c.1941T>A (p.Ser647=)
c.1416T>A (p.Ser472=)
c.1659T>A (p.Ser553=)
c.*191T>A (n.*191T>A)
c.1902T>A (p.Ser634=)
c.1950T>A (p.Ser650=)
c.1947T>A (p.Ser649=)
c.1914T>A (p.Ser638=)
 dbSNP
3g.189894412T>CCA437637243TP63c.1953T>C (p.Ser651=)
c.1671T>C (p.Ser557=)
c.*181T>C (n.*181T>C)
c.1941T>C (p.Ser647=)
c.1416T>C (p.Ser472=)
c.1659T>C (p.Ser553=)
c.*191T>C (n.*191T>C)
c.1902T>C (p.Ser634=)
c.1950T>C (p.Ser650=)
c.1947T>C (p.Ser649=)
c.1914T>C (p.Ser638=)
3g.189894412T>GCA437637244TP63c.1953T>G (p.Ser651=)
c.1671T>G (p.Ser557=)
c.*181T>G (n.*181T>G)
c.1941T>G (p.Ser647=)
c.1416T>G (p.Ser472=)
c.1659T>G (p.Ser553=)
c.*191T>G (n.*191T>G)
c.1902T>G (p.Ser634=)
c.1950T>G (p.Ser650=)
c.1947T>G (p.Ser649=)
c.1914T>G (p.Ser638=)
3g.189894414dupCA89713344TP63c.1955dup (p.Pro654ThrfsTer4)
c.1673dup (p.Pro560ThrfsTer4)
c.*183dup (n.*183dup)
c.1943dup (p.Pro650ThrfsTer4)
c.1418dup (p.Pro475ThrfsTer4)
c.1661dup (p.Pro556ThrfsTer4)
c.*193dup (n.*193dup)
c.1904dup (p.Pro637ThrfsTer4)
c.1952dup (p.Pro653ThrfsTer4)
c.1949dup (p.Pro652ThrfsTer4)
c.1916dup (p.Pro641ThrfsTer4)
 dbSNP
3g.189894413T>ACA355751543TP63c.1954T>A (p.Phe652Ile)
c.1672T>A (p.Phe558Ile)
c.*182T>A (n.*182T>A)
c.1942T>A (p.Phe648Ile)
c.1417T>A (p.Phe473Ile)
c.1660T>A (p.Phe554Ile)
c.*192T>A (n.*192T>A)
c.1903T>A (p.Phe635Ile)
c.1951T>A (p.Phe651Ile)
c.1948T>A (p.Phe650Ile)
c.1915T>A (p.Phe639Ile)
3g.189894413T>CCA355751544TP63c.1954T>C (p.Phe652Leu)
c.1672T>C (p.Phe558Leu)
c.*182T>C (n.*182T>C)
c.1942T>C (p.Phe648Leu)
c.1417T>C (p.Phe473Leu)
c.1660T>C (p.Phe554Leu)
c.*192T>C (n.*192T>C)
c.1903T>C (p.Phe635Leu)
c.1951T>C (p.Phe651Leu)
c.1948T>C (p.Phe650Leu)
c.1915T>C (p.Phe639Leu)
3g.189894413T>GCA355751545TP63c.1954T>G (p.Phe652Val)
c.1672T>G (p.Phe558Val)
c.*182T>G (n.*182T>G)
c.1942T>G (p.Phe648Val)
c.1417T>G (p.Phe473Val)
c.1660T>G (p.Phe554Val)
c.*192T>G (n.*192T>G)
c.1903T>G (p.Phe635Val)
c.1951T>G (p.Phe651Val)
c.1948T>G (p.Phe650Val)
c.1915T>G (p.Phe639Val)
3g.189894414T>ACA355751548TP63c.1955T>A (p.Phe652Tyr)
c.1673T>A (p.Phe558Tyr)
c.*183T>A (n.*183T>A)
c.1943T>A (p.Phe648Tyr)
c.1418T>A (p.Phe473Tyr)
c.1661T>A (p.Phe554Tyr)
c.*193T>A (n.*193T>A)
c.1904T>A (p.Phe635Tyr)
c.1952T>A (p.Phe651Tyr)
c.1949T>A (p.Phe650Tyr)
c.1916T>A (p.Phe639Tyr)
3g.189894414T>CCA355751546TP63c.1955T>C (p.Phe652Ser)
c.1673T>C (p.Phe558Ser)
c.*183T>C (n.*183T>C)
c.1943T>C (p.Phe648Ser)
c.1418T>C (p.Phe473Ser)
c.1661T>C (p.Phe554Ser)
c.*193T>C (n.*193T>C)
c.1904T>C (p.Phe635Ser)
c.1952T>C (p.Phe651Ser)
c.1949T>C (p.Phe650Ser)
c.1916T>C (p.Phe639Ser)
3g.189894414T>GCA355751547TP63c.1955T>G (p.Phe652Cys)
c.1673T>G (p.Phe558Cys)
c.*183T>G (n.*183T>G)
c.1943T>G (p.Phe648Cys)
c.1418T>G (p.Phe473Cys)
c.1661T>G (p.Phe554Cys)
c.*193T>G (n.*193T>G)
c.1904T>G (p.Phe635Cys)
c.1952T>G (p.Phe651Cys)
c.1949T>G (p.Phe650Cys)
c.1916T>G (p.Phe639Cys)
3g.189894415C>ACA355751549TP63c.1956C>A (p.Phe652Leu)
c.1674C>A (p.Phe558Leu)
c.*184C>A (n.*184C>A)
c.1944C>A (p.Phe648Leu)
c.1419C>A (p.Phe473Leu)
c.1662C>A (p.Phe554Leu)
c.*194C>A (n.*194C>A)
c.1905C>A (p.Phe635Leu)
c.1953C>A (p.Phe651Leu)
c.1950C>A (p.Phe650Leu)
c.1917C>A (p.Phe639Leu)
 dbSNP
3g.189894415C>GCA355751550TP63c.1956C>G (p.Phe652Leu)
c.1674C>G (p.Phe558Leu)
c.*184C>G (n.*184C>G)
c.1944C>G (p.Phe648Leu)
c.1419C>G (p.Phe473Leu)
c.1662C>G (p.Phe554Leu)
c.*194C>G (n.*194C>G)
c.1905C>G (p.Phe635Leu)
c.1953C>G (p.Phe651Leu)
c.1950C>G (p.Phe650Leu)
c.1917C>G (p.Phe639Leu)
 dbSNP
3g.189894415C>TCA437637246TP63c.1956C>T (p.Phe652=)
c.1674C>T (p.Phe558=)
c.*184C>T (n.*184C>T)
c.1944C>T (p.Phe648=)
c.1419C>T (p.Phe473=)
c.1662C>T (p.Phe554=)
c.*194C>T (n.*194C>T)
c.1905C>T (p.Phe635=)
c.1953C>T (p.Phe651=)
c.1950C>T (p.Phe650=)
c.1917C>T (p.Phe639=)
 dbSNP COSMIC COSMIC
3g.189894417delCA2704981778TP63c.1958del (p.Pro653HisfsTer?)
c.1676del (p.Pro559HisfsTer?)
c.*186del (n.*186del)
c.1946del (p.Pro649HisfsTer?)
c.1421del (p.Pro474HisfsTer?)
c.1664del (p.Pro555HisfsTer?)
c.*196del (n.*196del)
c.1907del (p.Pro636HisfsTer?)
c.1955del (p.Pro652HisfsTer?)
c.1952del (p.Pro651HisfsTer?)
c.1919del (p.Pro640HisfsTer?)
 dbSNP
3g.189894416C>ACA355751551TP63c.1957C>A (p.Pro653Thr)
c.1675C>A (p.Pro559Thr)
c.*185C>A (n.*185C>A)
c.1945C>A (p.Pro649Thr)
c.1420C>A (p.Pro474Thr)
c.1663C>A (p.Pro555Thr)
c.*195C>A (n.*195C>A)
c.1906C>A (p.Pro636Thr)
c.1954C>A (p.Pro652Thr)
c.1951C>A (p.Pro651Thr)
c.1918C>A (p.Pro640Thr)
 dbSNP
3g.189894416C>GCA355751552TP63c.1957C>G (p.Pro653Ala)
c.1675C>G (p.Pro559Ala)
c.*185C>G (n.*185C>G)
c.1945C>G (p.Pro649Ala)
c.1420C>G (p.Pro474Ala)
c.1663C>G (p.Pro555Ala)
c.*195C>G (n.*195C>G)
c.1906C>G (p.Pro636Ala)
c.1954C>G (p.Pro652Ala)
c.1951C>G (p.Pro651Ala)
c.1918C>G (p.Pro640Ala)
 dbSNP
3g.189894416C>TCA355751553TP63c.1957C>T (p.Pro653Ser)
c.1675C>T (p.Pro559Ser)
c.*185C>T (n.*185C>T)
c.1945C>T (p.Pro649Ser)
c.1420C>T (p.Pro474Ser)
c.1663C>T (p.Pro555Ser)
c.*195C>T (n.*195C>T)
c.1906C>T (p.Pro636Ser)
c.1954C>T (p.Pro652Ser)
c.1951C>T (p.Pro651Ser)
c.1918C>T (p.Pro640Ser)
 dbSNP
3g.189894417C>ACA355751554TP63c.1958C>A (p.Pro653Gln)
c.1676C>A (p.Pro559Gln)
c.*186C>A (n.*186C>A)
c.1946C>A (p.Pro649Gln)
c.1421C>A (p.Pro474Gln)
c.1664C>A (p.Pro555Gln)
c.*196C>A (n.*196C>A)
c.1907C>A (p.Pro636Gln)
c.1955C>A (p.Pro652Gln)
c.1952C>A (p.Pro651Gln)
c.1919C>A (p.Pro640Gln)
 dbSNP
3g.189894417C=CA1428535282TP63c.1958C= (p.Pro653=)
c.1676C= (p.Pro559=)
c.*186C= (n.*186C=)
c.1946C= (p.Pro649=)
c.1421C= (p.Pro474=)
c.1664C= (p.Pro555=)
c.*196C= (n.*196C=)
c.1907C= (p.Pro636=)
c.1955C= (p.Pro652=)
c.1952C= (p.Pro651=)
c.1919C= (p.Pro640=)
3g.189894417C>GCA355751555TP63c.1958C>G (p.Pro653Arg)
c.1676C>G (p.Pro559Arg)
c.*186C>G (n.*186C>G)
c.1946C>G (p.Pro649Arg)
c.1421C>G (p.Pro474Arg)
c.1664C>G (p.Pro555Arg)
c.*196C>G (n.*196C>G)
c.1907C>G (p.Pro636Arg)
c.1955C>G (p.Pro652Arg)
c.1952C>G (p.Pro651Arg)
c.1919C>G (p.Pro640Arg)
 dbSNP
3g.189894417C>TCA355751556TP63c.1958C>T (p.Pro653Leu)
c.1676C>T (p.Pro559Leu)
c.*186C>T (n.*186C>T)
c.1946C>T (p.Pro649Leu)
c.1421C>T (p.Pro474Leu)
c.1664C>T (p.Pro555Leu)
c.*196C>T (n.*196C>T)
c.1907C>T (p.Pro636Leu)
c.1955C>T (p.Pro652Leu)
c.1952C>T (p.Pro651Leu)
c.1919C>T (p.Pro640Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.189894418A=CA1428535284TP63c.1959A= (p.Pro653=)
c.1677A= (p.Pro559=)
c.*187A= (n.*187A=)
c.1947A= (p.Pro649=)
c.1422A= (p.Pro474=)
c.1665A= (p.Pro555=)
c.*197A= (n.*197A=)
c.1908A= (p.Pro636=)
c.1956A= (p.Pro652=)
c.1953A= (p.Pro651=)
c.1920A= (p.Pro640=)
3g.189894418A>CCA437637251TP63c.1959A>C (p.Pro653=)
c.1677A>C (p.Pro559=)
c.*187A>C (n.*187A>C)
c.1947A>C (p.Pro649=)
c.1422A>C (p.Pro474=)
c.1665A>C (p.Pro555=)
c.*197A>C (n.*197A>C)
c.1908A>C (p.Pro636=)
c.1956A>C (p.Pro652=)
c.1953A>C (p.Pro651=)
c.1920A>C (p.Pro640=)
3g.189894418A>GCA89713345TP63c.1959A>G (p.Pro653=)
c.1677A>G (p.Pro559=)
c.*187A>G (n.*187A>G)
c.1947A>G (p.Pro649=)
c.1422A>G (p.Pro474=)
c.1665A>G (p.Pro555=)
c.*197A>G (n.*197A>G)
c.1908A>G (p.Pro636=)
c.1956A>G (p.Pro652=)
c.1953A>G (p.Pro651=)
c.1920A>G (p.Pro640=)
 dbSNP gnomAD v3 gnomAD v4
3g.189894418A>TCA437637252TP63c.1959A>T (p.Pro653=)
c.1677A>T (p.Pro559=)
c.*187A>T (n.*187A>T)
c.1947A>T (p.Pro649=)
c.1422A>T (p.Pro474=)
c.1665A>T (p.Pro555=)
c.*197A>T (n.*197A>T)
c.1908A>T (p.Pro636=)
c.1956A>T (p.Pro652=)
c.1953A>T (p.Pro651=)
c.1920A>T (p.Pro640=)
3g.189894418_189894419delinsACCA1428535283TP63c.1959_1960delinsAC (p.Pro653=)
c.1677_1678delinsAC (p.Pro559=)
c.*187_*188delinsAC (n.*187_*188delinsAC)
c.1947_1948delinsAC (p.Pro649=)
c.1422_1423delinsAC (p.Pro474=)
c.1665_1666delinsAC (p.Pro555=)
c.*197_*198delinsAC (n.*197_*198delinsAC)
c.1908_1909delinsAC (p.Pro636=)
c.1956_1957delinsAC (p.Pro652=)
c.1953_1954delinsAC (p.Pro651=)
c.1920_1921delinsAC (p.Pro640=)
3g.189894419C>ACA355751557TP63c.1960C>A (p.Pro654Thr)
c.1678C>A (p.Pro560Thr)
c.*188C>A (n.*188C>A)
c.1948C>A (p.Pro650Thr)
c.1423C>A (p.Pro475Thr)
c.1666C>A (p.Pro556Thr)
c.*198C>A (n.*198C>A)
c.1909C>A (p.Pro637Thr)
c.1957C>A (p.Pro653Thr)
c.1954C>A (p.Pro652Thr)
c.1921C>A (p.Pro641Thr)
 dbSNP
3g.189894419C>GCA355751558TP63c.1960C>G (p.Pro654Ala)
c.1678C>G (p.Pro560Ala)
c.*188C>G (n.*188C>G)
c.1948C>G (p.Pro650Ala)
c.1423C>G (p.Pro475Ala)
c.1666C>G (p.Pro556Ala)
c.*198C>G (n.*198C>G)
c.1909C>G (p.Pro637Ala)
c.1957C>G (p.Pro653Ala)
c.1954C>G (p.Pro652Ala)
c.1921C>G (p.Pro641Ala)
 dbSNP
3g.189894419C>TCA355751559TP63c.1960C>T (p.Pro654Ser)
c.1678C>T (p.Pro560Ser)
c.*188C>T (n.*188C>T)
c.1948C>T (p.Pro650Ser)
c.1423C>T (p.Pro475Ser)
c.1666C>T (p.Pro556Ser)
c.*198C>T (n.*198C>T)
c.1909C>T (p.Pro637Ser)
c.1957C>T (p.Pro653Ser)
c.1954C>T (p.Pro652Ser)
c.1921C>T (p.Pro641Ser)
 dbSNP gnomAD v4
3g.189894422delCA347443TP63c.1963del (p.Arg655GlufsTer?)
c.1681del (p.Arg561GlufsTer?)
c.*191del (n.*191del)
c.1951del (p.Arg651GlufsTer?)
c.1426del (p.Arg476GlufsTer?)
c.1669del (p.Arg557GlufsTer?)
c.*201del (n.*201del)
c.1912del (p.Arg638GlufsTer?)
c.1960del (p.Arg654GlufsTer?)
c.1957del (p.Arg653GlufsTer?)
c.1924del (p.Arg642GlufsTer?)
 dbSNP
3g.189894420C>ACA355751560TP63c.1961C>A (p.Pro654His)
c.1679C>A (p.Pro560His)
c.*189C>A (n.*189C>A)
c.1949C>A (p.Pro650His)
c.1424C>A (p.Pro475His)
c.1667C>A (p.Pro556His)
c.*199C>A (n.*199C>A)
c.1910C>A (p.Pro637His)
c.1958C>A (p.Pro653His)
c.1955C>A (p.Pro652His)
c.1922C>A (p.Pro641His)
 dbSNP
3g.189894420C>GCA355751562TP63c.1961C>G (p.Pro654Arg)
c.1679C>G (p.Pro560Arg)
c.*189C>G (n.*189C>G)
c.1949C>G (p.Pro650Arg)
c.1424C>G (p.Pro475Arg)
c.1667C>G (p.Pro556Arg)
c.*199C>G (n.*199C>G)
c.1910C>G (p.Pro637Arg)
c.1958C>G (p.Pro653Arg)
c.1955C>G (p.Pro652Arg)
c.1922C>G (p.Pro641Arg)
 dbSNP gnomAD v4
3g.189894420C>TCA355751561TP63c.1961C>T (p.Pro654Leu)
c.1679C>T (p.Pro560Leu)
c.*189C>T (n.*189C>T)
c.1949C>T (p.Pro650Leu)
c.1424C>T (p.Pro475Leu)
c.1667C>T (p.Pro556Leu)
c.*199C>T (n.*199C>T)
c.1910C>T (p.Pro637Leu)
c.1958C>T (p.Pro653Leu)
c.1955C>T (p.Pro652Leu)
c.1922C>T (p.Pro641Leu)
 dbSNP
3g.189894421C>ACA437637256TP63c.1962C>A (p.Pro654=)
c.1680C>A (p.Pro560=)
c.*190C>A (n.*190C>A)
c.1950C>A (p.Pro650=)
c.1425C>A (p.Pro475=)
c.1668C>A (p.Pro556=)
c.*200C>A (n.*200C>A)
c.1911C>A (p.Pro637=)
c.1959C>A (p.Pro653=)
c.1956C>A (p.Pro652=)
c.1923C>A (p.Pro641=)
 dbSNP
3g.189894421C>GCA437637255TP63c.1962C>G (p.Pro654=)
c.1680C>G (p.Pro560=)
c.*190C>G (n.*190C>G)
c.1950C>G (p.Pro650=)
c.1425C>G (p.Pro475=)
c.1668C>G (p.Pro556=)
c.*200C>G (n.*200C>G)
c.1911C>G (p.Pro637=)
c.1959C>G (p.Pro653=)
c.1956C>G (p.Pro652=)
c.1923C>G (p.Pro641=)
 dbSNP gnomAD v4
3g.189894421C>TCA437637254TP63c.1962C>T (p.Pro654=)
c.1680C>T (p.Pro560=)
c.*190C>T (n.*190C>T)
c.1950C>T (p.Pro650=)
c.1425C>T (p.Pro475=)
c.1668C>T (p.Pro556=)
c.*200C>T (n.*200C>T)
c.1911C>T (p.Pro637=)
c.1959C>T (p.Pro653=)
c.1956C>T (p.Pro652=)
c.1923C>T (p.Pro641=)
 dbSNP gnomAD v4
3g.189894422C>ACA437637257TP63c.1963C>A (p.Arg655=)
c.1681C>A (p.Arg561=)
c.*191C>A (n.*191C>A)
c.1951C>A (p.Arg651=)
c.1426C>A (p.Arg476=)
c.1669C>A (p.Arg557=)
c.*201C>A (n.*201C>A)
c.1912C>A (p.Arg638=)
c.1960C>A (p.Arg654=)
c.1957C>A (p.Arg653=)
c.1924C>A (p.Arg642=)
 dbSNP
3g.189894422C=CA1428535285TP63c.1963C= (p.Arg655=)
c.1681C= (p.Arg561=)
c.*191C= (n.*191C=)
c.1951C= (p.Arg651=)
c.1426C= (p.Arg476=)
c.1669C= (p.Arg557=)
c.*201C= (n.*201C=)
c.1912C= (p.Arg638=)
c.1960C= (p.Arg654=)
c.1957C= (p.Arg653=)
c.1924C= (p.Arg642=)
3g.189894422C>GCA2752601TP63c.1963C>G (p.Arg655Gly)
c.1681C>G (p.Arg561Gly)
c.*191C>G (n.*191C>G)
c.1951C>G (p.Arg651Gly)
c.1426C>G (p.Arg476Gly)
c.1669C>G (p.Arg557Gly)
c.*201C>G (n.*201C>G)
c.1912C>G (p.Arg638Gly)
c.1960C>G (p.Arg654Gly)
c.1957C>G (p.Arg653Gly)
c.1924C>G (p.Arg642Gly)
 dbSNP ExAC gnomAD v2
3g.189894422C>TCA355751563TP63c.1963C>T (p.Arg655Ter)
c.1681C>T (p.Arg561Ter)
c.*191C>T (n.*191C>T)
c.1951C>T (p.Arg651Ter)
c.1426C>T (p.Arg476Ter)
c.1669C>T (p.Arg557Ter)
c.*201C>T (n.*201C>T)
c.1912C>T (p.Arg638Ter)
c.1960C>T (p.Arg654Ter)
c.1957C>T (p.Arg653Ter)
c.1924C>T (p.Arg642Ter)
 ClinVar dbSNP gnomAD v4
3g.189894423G>ACA2752602TP63c.1964G>A (p.Arg655Gln)
c.1682G>A (p.Arg561Gln)
c.*192G>A (n.*192G>A)
c.1952G>A (p.Arg651Gln)
c.1427G>A (p.Arg476Gln)
c.1670G>A (p.Arg557Gln)
c.*202G>A (n.*202G>A)
c.1913G>A (p.Arg638Gln)
c.1961G>A (p.Arg654Gln)
c.1958G>A (p.Arg653Gln)
c.1925G>A (p.Arg642Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.189894423G>CCA355751565TP63c.1964G>C (p.Arg655Pro)
c.1682G>C (p.Arg561Pro)
c.*192G>C (n.*192G>C)
c.1952G>C (p.Arg651Pro)
c.1427G>C (p.Arg476Pro)
c.1670G>C (p.Arg557Pro)
c.*202G>C (n.*202G>C)
c.1913G>C (p.Arg638Pro)
c.1961G>C (p.Arg654Pro)
c.1958G>C (p.Arg653Pro)
c.1925G>C (p.Arg642Pro)
 dbSNP
3g.189894423G=CA1428535286TP63c.1964G= (p.Arg655=)
c.1682G= (p.Arg561=)
c.*192G= (n.*192G=)
c.1952G= (p.Arg651=)
c.1427G= (p.Arg476=)
c.1670G= (p.Arg557=)
c.*202G= (n.*202G=)
c.1913G= (p.Arg638=)
c.1961G= (p.Arg654=)
c.1958G= (p.Arg653=)
c.1925G= (p.Arg642=)
3g.189894423G>TCA355751564TP63c.1964G>T (p.Arg655Leu)
c.1682G>T (p.Arg561Leu)
c.*192G>T (n.*192G>T)
c.1952G>T (p.Arg651Leu)
c.1427G>T (p.Arg476Leu)
c.1670G>T (p.Arg557Leu)
c.*202G>T (n.*202G>T)
c.1913G>T (p.Arg638Leu)
c.1961G>T (p.Arg654Leu)
c.1958G>T (p.Arg653Leu)
c.1925G>T (p.Arg642Leu)
 dbSNP COSMIC
3g.189894424A>CCA437637259TP63c.1965A>C (p.Arg655=)
c.1683A>C (p.Arg561=)
c.*193A>C (n.*193A>C)
c.1953A>C (p.Arg651=)
c.1428A>C (p.Arg476=)
c.1671A>C (p.Arg557=)
c.*203A>C (n.*203A>C)
c.1914A>C (p.Arg638=)
c.1962A>C (p.Arg654=)
c.1959A>C (p.Arg653=)
c.1926A>C (p.Arg642=)
3g.189894424A>GCA437637260TP63c.1965A>G (p.Arg655=)
c.1683A>G (p.Arg561=)
c.*193A>G (n.*193A>G)
c.1953A>G (p.Arg651=)
c.1428A>G (p.Arg476=)
c.1671A>G (p.Arg557=)
c.*203A>G (n.*203A>G)
c.1914A>G (p.Arg638=)
c.1962A>G (p.Arg654=)
c.1959A>G (p.Arg653=)
c.1926A>G (p.Arg642=)
 dbSNP
3g.189894424A>TCA437637261TP63c.1965A>T (p.Arg655=)
c.1683A>T (p.Arg561=)
c.*193A>T (n.*193A>T)
c.1953A>T (p.Arg651=)
c.1428A>T (p.Arg476=)
c.1671A>T (p.Arg557=)
c.*203A>T (n.*203A>T)
c.1914A>T (p.Arg638=)
c.1962A>T (p.Arg654=)
c.1959A>T (p.Arg653=)
c.1926A>T (p.Arg642=)
 dbSNP
3g.189894425G>ACA355751566TP63c.1966G>A (p.Asp656Asn)
c.1684G>A (p.Asp562Asn)
c.*194G>A (n.*194G>A)
c.1954G>A (p.Asp652Asn)
c.1429G>A (p.Asp477Asn)
c.1672G>A (p.Asp558Asn)
c.*204G>A (n.*204G>A)
c.1915G>A (p.Asp639Asn)
c.1963G>A (p.Asp655Asn)
c.1960G>A (p.Asp654Asn)
c.1927G>A (p.Asp643Asn)
 dbSNP gnomAD v4
3g.189894425G>CCA355751567TP63c.1966G>C (p.Asp656His)
c.1684G>C (p.Asp562His)
c.*194G>C (n.*194G>C)
c.1954G>C (p.Asp652His)
c.1429G>C (p.Asp477His)
c.1672G>C (p.Asp558His)
c.*204G>C (n.*204G>C)
c.1915G>C (p.Asp639His)
c.1963G>C (p.Asp655His)
c.1960G>C (p.Asp654His)
c.1927G>C (p.Asp643His)
 dbSNP gnomAD v4
3g.189894425G>TCA355751568TP63c.1966G>T (p.Asp656Tyr)
c.1684G>T (p.Asp562Tyr)
c.*194G>T (n.*194G>T)
c.1954G>T (p.Asp652Tyr)
c.1429G>T (p.Asp477Tyr)
c.1672G>T (p.Asp558Tyr)
c.*204G>T (n.*204G>T)
c.1915G>T (p.Asp639Tyr)
c.1963G>T (p.Asp655Tyr)
c.1960G>T (p.Asp654Tyr)
c.1927G>T (p.Asp643Tyr)
3g.189894426A>CCA355751569TP63c.1967A>C (p.Asp656Ala)
c.1685A>C (p.Asp562Ala)
c.*195A>C (n.*195A>C)
c.1955A>C (p.Asp652Ala)
c.1430A>C (p.Asp477Ala)
c.1673A>C (p.Asp558Ala)
c.*205A>C (n.*205A>C)
c.1916A>C (p.Asp639Ala)
c.1964A>C (p.Asp655Ala)
c.1961A>C (p.Asp654Ala)
c.1928A>C (p.Asp643Ala)
 dbSNP
3g.189894426A>GCA355751570TP63c.1967A>G (p.Asp656Gly)
c.1685A>G (p.Asp562Gly)
c.*195A>G (n.*195A>G)
c.1955A>G (p.Asp652Gly)
c.1430A>G (p.Asp477Gly)
c.1673A>G (p.Asp558Gly)
c.*205A>G (n.*205A>G)
c.1916A>G (p.Asp639Gly)
c.1964A>G (p.Asp655Gly)
c.1961A>G (p.Asp654Gly)
c.1928A>G (p.Asp643Gly)
 dbSNP
3g.189894426A>TCA355751571TP63c.1967A>T (p.Asp656Val)
c.1685A>T (p.Asp562Val)
c.*195A>T (n.*195A>T)
c.1955A>T (p.Asp652Val)
c.1430A>T (p.Asp477Val)
c.1673A>T (p.Asp558Val)
c.*205A>T (n.*205A>T)
c.1916A>T (p.Asp639Val)
c.1964A>T (p.Asp655Val)
c.1961A>T (p.Asp654Val)
c.1928A>T (p.Asp643Val)
 dbSNP
3g.189894427T>ACA355751572TP63c.1968T>A (p.Asp656Glu)
c.1686T>A (p.Asp562Glu)
c.*196T>A (n.*196T>A)
c.1956T>A (p.Asp652Glu)
c.1431T>A (p.Asp477Glu)
c.1674T>A (p.Asp558Glu)
c.*206T>A (n.*206T>A)
c.1917T>A (p.Asp639Glu)
c.1965T>A (p.Asp655Glu)
c.1962T>A (p.Asp654Glu)
c.1929T>A (p.Asp643Glu)
 dbSNP
3g.189894427T>CCA437637265TP63c.1968T>C (p.Asp656=)
c.1686T>C (p.Asp562=)
c.*196T>C (n.*196T>C)
c.1956T>C (p.Asp652=)
c.1431T>C (p.Asp477=)
c.1674T>C (p.Asp558=)
c.*206T>C (n.*206T>C)
c.1917T>C (p.Asp639=)
c.1965T>C (p.Asp655=)
c.1962T>C (p.Asp654=)
c.1929T>C (p.Asp643=)
3g.189894427T>GCA355751573TP63c.1968T>G (p.Asp656Glu)
c.1686T>G (p.Asp562Glu)
c.*196T>G (n.*196T>G)
c.1956T>G (p.Asp652Glu)
c.1431T>G (p.Asp477Glu)
c.1674T>G (p.Asp558Glu)
c.*206T>G (n.*206T>G)
c.1917T>G (p.Asp639Glu)
c.1965T>G (p.Asp655Glu)
c.1962T>G (p.Asp654Glu)
c.1929T>G (p.Asp643Glu)
3g.189894428G>ACA355751574TP63c.1969G>A (p.Glu657Lys)
c.1687G>A (p.Glu563Lys)
c.*197G>A (n.*197G>A)
c.1957G>A (p.Glu653Lys)
c.1432G>A (p.Glu478Lys)
c.1675G>A (p.Glu559Lys)
c.*207G>A (n.*207G>A)
c.1918G>A (p.Glu640Lys)
c.1966G>A (p.Glu656Lys)
c.1963G>A (p.Glu655Lys)
c.1930G>A (p.Glu644Lys)
 dbSNP gnomAD v4 COSMIC
3g.189894428G>CCA355751575TP63c.1969G>C (p.Glu657Gln)
c.1687G>C (p.Glu563Gln)
c.*197G>C (n.*197G>C)
c.1957G>C (p.Glu653Gln)
c.1432G>C (p.Glu478Gln)
c.1675G>C (p.Glu559Gln)
c.*207G>C (n.*207G>C)
c.1918G>C (p.Glu640Gln)
c.1966G>C (p.Glu656Gln)
c.1963G>C (p.Glu655Gln)
c.1930G>C (p.Glu644Gln)
 dbSNP
3g.189894428G>TCA355751576TP63c.1969G>T (p.Glu657Ter)
c.1687G>T (p.Glu563Ter)
c.*197G>T (n.*197G>T)
c.1957G>T (p.Glu653Ter)
c.1432G>T (p.Glu478Ter)
c.1675G>T (p.Glu559Ter)
c.*207G>T (n.*207G>T)
c.1918G>T (p.Glu640Ter)
c.1966G>T (p.Glu656Ter)
c.1963G>T (p.Glu655Ter)
c.1930G>T (p.Glu644Ter)
3g.189894429A=CA1428535287TP63c.1970A= (p.Glu657=)
c.1688A= (p.Glu563=)
c.*198A= (n.*198A=)
c.1958A= (p.Glu653=)
c.1433A= (p.Glu478=)
c.1676A= (p.Glu559=)
c.*208A= (n.*208A=)
c.1919A= (p.Glu640=)
c.1967A= (p.Glu656=)
c.1964A= (p.Glu655=)
c.1931A= (p.Glu644=)
3g.189894429A>CCA355751579TP63c.1970A>C (p.Glu657Ala)
c.1688A>C (p.Glu563Ala)
c.*198A>C (n.*198A>C)
c.1958A>C (p.Glu653Ala)
c.1433A>C (p.Glu478Ala)
c.1676A>C (p.Glu559Ala)
c.*208A>C (n.*208A>C)
c.1919A>C (p.Glu640Ala)
c.1967A>C (p.Glu656Ala)
c.1964A>C (p.Glu655Ala)
c.1931A>C (p.Glu644Ala)
3g.189894429A>GCA355751578TP63c.1970A>G (p.Glu657Gly)
c.1688A>G (p.Glu563Gly)
c.*198A>G (n.*198A>G)
c.1958A>G (p.Glu653Gly)
c.1433A>G (p.Glu478Gly)
c.1676A>G (p.Glu559Gly)
c.*208A>G (n.*208A>G)
c.1919A>G (p.Glu640Gly)
c.1967A>G (p.Glu656Gly)
c.1964A>G (p.Glu655Gly)
c.1931A>G (p.Glu644Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189894429A>TCA355751577TP63c.1970A>T (p.Glu657Val)
c.1688A>T (p.Glu563Val)
c.*198A>T (n.*198A>T)
c.1958A>T (p.Glu653Val)
c.1433A>T (p.Glu478Val)
c.1676A>T (p.Glu559Val)
c.*208A>T (n.*208A>T)
c.1919A>T (p.Glu640Val)
c.1967A>T (p.Glu656Val)
c.1964A>T (p.Glu655Val)
c.1931A>T (p.Glu644Val)
 dbSNP
3g.189894430G>ACA437637267TP63c.1971G>A (p.Glu657=)
c.1689G>A (p.Glu563=)
c.*199G>A (n.*199G>A)
c.1959G>A (p.Glu653=)
c.1434G>A (p.Glu478=)
c.1677G>A (p.Glu559=)
c.*209G>A (n.*209G>A)
c.1920G>A (p.Glu640=)
c.1968G>A (p.Glu656=)
c.1965G>A (p.Glu655=)
c.1932G>A (p.Glu644=)
 ClinVar dbSNP
3g.189894430G>CCA355751580TP63c.1971G>C (p.Glu657Asp)
c.1689G>C (p.Glu563Asp)
c.*199G>C (n.*199G>C)
c.1959G>C (p.Glu653Asp)
c.1434G>C (p.Glu478Asp)
c.1677G>C (p.Glu559Asp)
c.*209G>C (n.*209G>C)
c.1920G>C (p.Glu640Asp)
c.1968G>C (p.Glu656Asp)
c.1965G>C (p.Glu655Asp)
c.1932G>C (p.Glu644Asp)
 dbSNP
3g.189894430G=CA1428535288TP63c.1971G= (p.Glu657=)
c.1689G= (p.Glu563=)
c.*199G= (n.*199G=)
c.1959G= (p.Glu653=)
c.1434G= (p.Glu478=)
c.1677G= (p.Glu559=)
c.*209G= (n.*209G=)
c.1920G= (p.Glu640=)
c.1968G= (p.Glu656=)
c.1965G= (p.Glu655=)
c.1932G= (p.Glu644=)
3g.189894430G>TCA355751581TP63c.1971G>T (p.Glu657Asp)
c.1689G>T (p.Glu563Asp)
c.*199G>T (n.*199G>T)
c.1959G>T (p.Glu653Asp)
c.1434G>T (p.Glu478Asp)
c.1677G>T (p.Glu559Asp)
c.*209G>T (n.*209G>T)
c.1920G>T (p.Glu640Asp)
c.1968G>T (p.Glu656Asp)
c.1965G>T (p.Glu655Asp)
c.1932G>T (p.Glu644Asp)
 COSMIC COSMIC
3g.189894431T>ACA355751582TP63c.1972T>A (p.Trp658Arg)
c.1690T>A (p.Trp564Arg)
c.*200T>A (n.*200T>A)
c.1960T>A (p.Trp654Arg)
c.1435T>A (p.Trp479Arg)
c.1678T>A (p.Trp560Arg)
c.*210T>A (n.*210T>A)
c.1921T>A (p.Trp641Arg)
c.1969T>A (p.Trp657Arg)
c.1966T>A (p.Trp656Arg)
c.1933T>A (p.Trp645Arg)
 dbSNP
3g.189894431T>CCA355751583TP63c.1972T>C (p.Trp658Arg)
c.1690T>C (p.Trp564Arg)
c.*200T>C (n.*200T>C)
c.1960T>C (p.Trp654Arg)
c.1435T>C (p.Trp479Arg)
c.1678T>C (p.Trp560Arg)
c.*210T>C (n.*210T>C)
c.1921T>C (p.Trp641Arg)
c.1969T>C (p.Trp657Arg)
c.1966T>C (p.Trp656Arg)
c.1933T>C (p.Trp645Arg)
3g.189894431T>GCA355751584TP63c.1972T>G (p.Trp658Gly)
c.1690T>G (p.Trp564Gly)
c.*200T>G (n.*200T>G)
c.1960T>G (p.Trp654Gly)
c.1435T>G (p.Trp479Gly)
c.1678T>G (p.Trp560Gly)
c.*210T>G (n.*210T>G)
c.1921T>G (p.Trp641Gly)
c.1969T>G (p.Trp657Gly)
c.1966T>G (p.Trp656Gly)
c.1933T>G (p.Trp645Gly)
3g.189894432G>ACA355751585TP63c.1973G>A (p.Trp658Ter)
c.1691G>A (p.Trp564Ter)
c.*201G>A (n.*201G>A)
c.1961G>A (p.Trp654Ter)
c.1436G>A (p.Trp479Ter)
c.1679G>A (p.Trp560Ter)
c.*211G>A (n.*211G>A)
c.1922G>A (p.Trp641Ter)
c.1970G>A (p.Trp657Ter)
c.1967G>A (p.Trp656Ter)
c.1934G>A (p.Trp645Ter)
 ClinVar dbSNP COSMIC
3g.189894432G>CCA355751586TP63c.1973G>C (p.Trp658Ser)
c.1691G>C (p.Trp564Ser)
c.*201G>C (n.*201G>C)
c.1961G>C (p.Trp654Ser)
c.1436G>C (p.Trp479Ser)
c.1679G>C (p.Trp560Ser)
c.*211G>C (n.*211G>C)
c.1922G>C (p.Trp641Ser)
c.1970G>C (p.Trp657Ser)
c.1967G>C (p.Trp656Ser)
c.1934G>C (p.Trp645Ser)
3g.189894432G>TCA355751587TP63c.1973G>T (p.Trp658Leu)
c.1691G>T (p.Trp564Leu)
c.*201G>T (n.*201G>T)
c.1961G>T (p.Trp654Leu)
c.1436G>T (p.Trp479Leu)
c.1679G>T (p.Trp560Leu)
c.*211G>T (n.*211G>T)
c.1922G>T (p.Trp641Leu)
c.1970G>T (p.Trp657Leu)
c.1967G>T (p.Trp656Leu)
c.1934G>T (p.Trp645Leu)
3g.189894433G>ACA355751588TP63c.1974G>A (p.Trp658Ter)
c.1692G>A (p.Trp564Ter)
c.*202G>A (n.*202G>A)
c.1962G>A (p.Trp654Ter)
c.1437G>A (p.Trp479Ter)
c.1680G>A (p.Trp560Ter)
c.*212G>A (n.*212G>A)
c.1923G>A (p.Trp641Ter)
c.1971G>A (p.Trp657Ter)
c.1968G>A (p.Trp656Ter)
c.1935G>A (p.Trp645Ter)
 dbSNP
3g.189894433G>CCA355751589TP63c.1974G>C (p.Trp658Cys)
c.1692G>C (p.Trp564Cys)
c.*202G>C (n.*202G>C)
c.1962G>C (p.Trp654Cys)
c.1437G>C (p.Trp479Cys)
c.1680G>C (p.Trp560Cys)
c.*212G>C (n.*212G>C)
c.1923G>C (p.Trp641Cys)
c.1971G>C (p.Trp657Cys)
c.1968G>C (p.Trp656Cys)
c.1935G>C (p.Trp645Cys)
 dbSNP
3g.189894433G>TCA355751590TP63c.1974G>T (p.Trp658Cys)
c.1692G>T (p.Trp564Cys)
c.*202G>T (n.*202G>T)
c.1962G>T (p.Trp654Cys)
c.1437G>T (p.Trp479Cys)
c.1680G>T (p.Trp560Cys)
c.*212G>T (n.*212G>T)
c.1923G>T (p.Trp641Cys)
c.1971G>T (p.Trp657Cys)
c.1968G>T (p.Trp656Cys)
c.1935G>T (p.Trp645Cys)
3g.189894434A>CCA355751593TP63c.1975A>C (p.Asn659His)
c.1693A>C (p.Asn565His)
c.*203A>C (n.*203A>C)
c.1963A>C (p.Asn655His)
c.1438A>C (p.Asn480His)
c.1681A>C (p.Asn561His)
c.*213A>C (n.*213A>C)
c.1924A>C (p.Asn642His)
c.1972A>C (p.Asn658His)
c.1969A>C (p.Asn657His)
c.1936A>C (p.Asn646His)
3g.189894434A>GCA355751592TP63c.1975A>G (p.Asn659Asp)
c.1693A>G (p.Asn565Asp)
c.*203A>G (n.*203A>G)
c.1963A>G (p.Asn655Asp)
c.1438A>G (p.Asn480Asp)
c.1681A>G (p.Asn561Asp)
c.*213A>G (n.*213A>G)
c.1924A>G (p.Asn642Asp)
c.1972A>G (p.Asn658Asp)
c.1969A>G (p.Asn657Asp)
c.1936A>G (p.Asn646Asp)
 dbSNP
3g.189894434A>TCA355751591TP63c.1975A>T (p.Asn659Tyr)
c.1693A>T (p.Asn565Tyr)
c.*203A>T (n.*203A>T)
c.1963A>T (p.Asn655Tyr)
c.1438A>T (p.Asn480Tyr)
c.1681A>T (p.Asn561Tyr)
c.*213A>T (n.*213A>T)
c.1924A>T (p.Asn642Tyr)
c.1972A>T (p.Asn658Tyr)
c.1969A>T (p.Asn657Tyr)
c.1936A>T (p.Asn646Tyr)
3g.189894435delCA2580070521TP63c.1976del (p.Asn659MetfsTer?)
c.1694del (p.Asn565MetfsTer?)
c.*204del (n.*204del)
c.1964del (p.Asn655MetfsTer?)
c.1439del (p.Asn480MetfsTer?)
c.1682del (p.Asn561MetfsTer?)
c.*214del (n.*214del)
c.1925del (p.Asn642MetfsTer?)
c.1973del (p.Asn658MetfsTer?)
c.1970del (p.Asn657MetfsTer?)
c.1937del (p.Asn646MetfsTer?)
 ClinVar dbSNP
3g.189894435A=CA1428535289TP63c.1976A= (p.Asn659=)
c.1694A= (p.Asn565=)
c.*204A= (n.*204A=)
c.1964A= (p.Asn655=)
c.1439A= (p.Asn480=)
c.1682A= (p.Asn561=)
c.*214A= (n.*214A=)
c.1925A= (p.Asn642=)
c.1973A= (p.Asn658=)
c.1970A= (p.Asn657=)
c.1937A= (p.Asn646=)
3g.189894435A>CCA355751594TP63c.1976A>C (p.Asn659Thr)
c.1694A>C (p.Asn565Thr)
c.*204A>C (n.*204A>C)
c.1964A>C (p.Asn655Thr)
c.1439A>C (p.Asn480Thr)
c.1682A>C (p.Asn561Thr)
c.*214A>C (n.*214A>C)
c.1925A>C (p.Asn642Thr)
c.1973A>C (p.Asn658Thr)
c.1970A>C (p.Asn657Thr)
c.1937A>C (p.Asn646Thr)
 dbSNP
3g.189894435A>GCA355751595TP63c.1976A>G (p.Asn659Ser)
c.1694A>G (p.Asn565Ser)
c.*204A>G (n.*204A>G)
c.1964A>G (p.Asn655Ser)
c.1439A>G (p.Asn480Ser)
c.1682A>G (p.Asn561Ser)
c.*214A>G (n.*214A>G)
c.1925A>G (p.Asn642Ser)
c.1973A>G (p.Asn658Ser)
c.1970A>G (p.Asn657Ser)
c.1937A>G (p.Asn646Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.189894435A>TCA355751596TP63c.1976A>T (p.Asn659Ile)
c.1694A>T (p.Asn565Ile)
c.*204A>T (n.*204A>T)
c.1964A>T (p.Asn655Ile)
c.1439A>T (p.Asn480Ile)
c.1682A>T (p.Asn561Ile)
c.*214A>T (n.*214A>T)
c.1925A>T (p.Asn642Ile)
c.1973A>T (p.Asn658Ile)
c.1970A>T (p.Asn657Ile)
c.1937A>T (p.Asn646Ile)
3g.189894436T>ACA355751597TP63c.1977T>A (p.Asn659Lys)
c.1695T>A (p.Asn565Lys)
c.*205T>A (n.*205T>A)
c.1965T>A (p.Asn655Lys)
c.1440T>A (p.Asn480Lys)
c.1683T>A (p.Asn561Lys)
c.*215T>A (n.*215T>A)
c.1926T>A (p.Asn642Lys)
c.1974T>A (p.Asn658Lys)
c.1971T>A (p.Asn657Lys)
c.1938T>A (p.Asn646Lys)
 dbSNP
3g.189894436T>CCA437637279TP63c.1977T>C (p.Asn659=)
c.1695T>C (p.Asn565=)
c.*205T>C (n.*205T>C)
c.1965T>C (p.Asn655=)
c.1440T>C (p.Asn480=)
c.1683T>C (p.Asn561=)
c.*215T>C (n.*215T>C)
c.1926T>C (p.Asn642=)
c.1974T>C (p.Asn658=)
c.1971T>C (p.Asn657=)
c.1938T>C (p.Asn646=)
 dbSNP gnomAD v2 gnomAD v4
3g.189894436T>GCA355751598TP63c.1977T>G (p.Asn659Lys)
c.1695T>G (p.Asn565Lys)
c.*205T>G (n.*205T>G)
c.1965T>G (p.Asn655Lys)
c.1440T>G (p.Asn480Lys)
c.1683T>G (p.Asn561Lys)
c.*215T>G (n.*215T>G)
c.1926T>G (p.Asn642Lys)
c.1974T>G (p.Asn658Lys)
c.1971T>G (p.Asn657Lys)
c.1938T>G (p.Asn646Lys)
3g.189894436T=CA1428535290TP63c.1977T= (p.Asn659=)
c.1695T= (p.Asn565=)
c.*205T= (n.*205T=)
c.1965T= (p.Asn655=)
c.1440T= (p.Asn480=)
c.1683T= (p.Asn561=)
c.*215T= (n.*215T=)
c.1926T= (p.Asn642=)
c.1974T= (p.Asn658=)
c.1971T= (p.Asn657=)
c.1938T= (p.Asn646=)
3g.189894437G>ACA355751599TP63c.1978G>A (p.Asp660Asn)
c.1696G>A (p.Asp566Asn)
c.*206G>A (n.*206G>A)
c.1966G>A (p.Asp656Asn)
c.1441G>A (p.Asp481Asn)
c.1684G>A (p.Asp562Asn)
c.*216G>A (n.*216G>A)
c.1927G>A (p.Asp643Asn)
c.1975G>A (p.Asp659Asn)
c.1972G>A (p.Asp658Asn)
c.1939G>A (p.Asp647Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.189894437G>CCA355751600TP63c.1978G>C (p.Asp660His)
c.1696G>C (p.Asp566His)
c.*206G>C (n.*206G>C)
c.1966G>C (p.Asp656His)
c.1441G>C (p.Asp481His)
c.1684G>C (p.Asp562His)
c.*216G>C (n.*216G>C)
c.1927G>C (p.Asp643His)
c.1975G>C (p.Asp659His)
c.1972G>C (p.Asp658His)
c.1939G>C (p.Asp647His)
 dbSNP
3g.189894437G=CA1428535291TP63c.1978G= (p.Asp660=)
c.1696G= (p.Asp566=)
c.*206G= (n.*206G=)
c.1966G= (p.Asp656=)
c.1441G= (p.Asp481=)
c.1684G= (p.Asp562=)
c.*216G= (n.*216G=)
c.1927G= (p.Asp643=)
c.1975G= (p.Asp659=)
c.1972G= (p.Asp658=)
c.1939G= (p.Asp647=)
3g.189894437G>TCA355751601TP63c.1978G>T (p.Asp660Tyr)
c.1696G>T (p.Asp566Tyr)
c.*206G>T (n.*206G>T)
c.1966G>T (p.Asp656Tyr)
c.1441G>T (p.Asp481Tyr)
c.1684G>T (p.Asp562Tyr)
c.*216G>T (n.*216G>T)
c.1927G>T (p.Asp643Tyr)
c.1975G>T (p.Asp659Tyr)
c.1972G>T (p.Asp658Tyr)
c.1939G>T (p.Asp647Tyr)
 gnomAD v4
3g.189894438A>CCA355751602TP63c.1979A>C (p.Asp660Ala)
c.1697A>C (p.Asp566Ala)
c.*207A>C (n.*207A>C)
c.1967A>C (p.Asp656Ala)
c.1442A>C (p.Asp481Ala)
c.1685A>C (p.Asp562Ala)
c.*217A>C (n.*217A>C)
c.1928A>C (p.Asp643Ala)
c.1976A>C (p.Asp659Ala)
c.1973A>C (p.Asp658Ala)
c.1940A>C (p.Asp647Ala)
 dbSNP
3g.189894438A>GCA355751603TP63c.1979A>G (p.Asp660Gly)
c.1697A>G (p.Asp566Gly)
c.*207A>G (n.*207A>G)
c.1967A>G (p.Asp656Gly)
c.1442A>G (p.Asp481Gly)
c.1685A>G (p.Asp562Gly)
c.*217A>G (n.*217A>G)
c.1928A>G (p.Asp643Gly)
c.1976A>G (p.Asp659Gly)
c.1973A>G (p.Asp658Gly)
c.1940A>G (p.Asp647Gly)
 dbSNP
3g.189894438A>TCA355751604TP63c.1979A>T (p.Asp660Val)
c.1697A>T (p.Asp566Val)
c.*207A>T (n.*207A>T)
c.1967A>T (p.Asp656Val)
c.1442A>T (p.Asp481Val)
c.1685A>T (p.Asp562Val)
c.*217A>T (n.*217A>T)
c.1928A>T (p.Asp643Val)
c.1976A>T (p.Asp659Val)
c.1973A>T (p.Asp658Val)
c.1940A>T (p.Asp647Val)
 dbSNP
3g.189894439C>ACA355751605TP63c.1980C>A (p.Asp660Glu)
c.1698C>A (p.Asp566Glu)
c.*208C>A (n.*208C>A)
c.1968C>A (p.Asp656Glu)
c.1443C>A (p.Asp481Glu)
c.1686C>A (p.Asp562Glu)
c.*218C>A (n.*218C>A)
c.1929C>A (p.Asp643Glu)
c.1977C>A (p.Asp659Glu)
c.1974C>A (p.Asp658Glu)
c.1941C>A (p.Asp647Glu)
 dbSNP
3g.189894439C=CA1428535292TP63c.1980C= (p.Asp660=)
c.1698C= (p.Asp566=)
c.*208C= (n.*208C=)
c.1968C= (p.Asp656=)
c.1443C= (p.Asp481=)
c.1686C= (p.Asp562=)
c.*218C= (n.*218C=)
c.1929C= (p.Asp643=)
c.1977C= (p.Asp659=)
c.1974C= (p.Asp658=)
c.1941C= (p.Asp647=)
3g.189894439C>GCA355751606TP63c.1980C>G (p.Asp660Glu)
c.1698C>G (p.Asp566Glu)
c.*208C>G (n.*208C>G)
c.1968C>G (p.Asp656Glu)
c.1443C>G (p.Asp481Glu)
c.1686C>G (p.Asp562Glu)
c.*218C>G (n.*218C>G)
c.1929C>G (p.Asp643Glu)
c.1977C>G (p.Asp659Glu)
c.1974C>G (p.Asp658Glu)
c.1941C>G (p.Asp647Glu)
 dbSNP
3g.189894439C>TCA437637285TP63c.1980C>T (p.Asp660=)
c.1698C>T (p.Asp566=)
c.*208C>T (n.*208C>T)
c.1968C>T (p.Asp656=)
c.1443C>T (p.Asp481=)
c.1686C>T (p.Asp562=)
c.*218C>T (n.*218C>T)
c.1929C>T (p.Asp643=)
c.1977C>T (p.Asp659=)
c.1974C>T (p.Asp658=)
c.1941C>T (p.Asp647=)
 dbSNP
3g.189894440T>ACA355751607TP63c.1981T>A (p.Phe661Ile)
c.1699T>A (p.Phe567Ile)
c.*209T>A (n.*209T>A)
c.1969T>A (p.Phe657Ile)
c.1444T>A (p.Phe482Ile)
c.1687T>A (p.Phe563Ile)
c.*219T>A (n.*219T>A)
c.1930T>A (p.Phe644Ile)
c.1978T>A (p.Phe660Ile)
c.1975T>A (p.Phe659Ile)
c.1942T>A (p.Phe648Ile)
 dbSNP
3g.189894440T>CCA355751609TP63c.1981T>C (p.Phe661Leu)
c.1699T>C (p.Phe567Leu)
c.*209T>C (n.*209T>C)
c.1969T>C (p.Phe657Leu)
c.1444T>C (p.Phe482Leu)
c.1687T>C (p.Phe563Leu)
c.*219T>C (n.*219T>C)
c.1930T>C (p.Phe644Leu)
c.1978T>C (p.Phe660Leu)
c.1975T>C (p.Phe659Leu)
c.1942T>C (p.Phe648Leu)
 dbSNP
3g.189894440T>GCA355751608TP63c.1981T>G (p.Phe661Val)
c.1699T>G (p.Phe567Val)
c.*209T>G (n.*209T>G)
c.1969T>G (p.Phe657Val)
c.1444T>G (p.Phe482Val)
c.1687T>G (p.Phe563Val)
c.*219T>G (n.*219T>G)
c.1930T>G (p.Phe644Val)
c.1978T>G (p.Phe660Val)
c.1975T>G (p.Phe659Val)
c.1942T>G (p.Phe648Val)
3g.189894441T>ACA355751610TP63c.1982T>A (p.Phe661Tyr)
c.1700T>A (p.Phe567Tyr)
c.*210T>A (n.*210T>A)
c.1970T>A (p.Phe657Tyr)
c.1445T>A (p.Phe482Tyr)
c.1688T>A (p.Phe563Tyr)
c.*220T>A (n.*220T>A)
c.1931T>A (p.Phe644Tyr)
c.1979T>A (p.Phe660Tyr)
c.1976T>A (p.Phe659Tyr)
c.1943T>A (p.Phe648Tyr)
 dbSNP
3g.189894441T>CCA355751611TP63c.1982T>C (p.Phe661Ser)
c.1700T>C (p.Phe567Ser)
c.*210T>C (n.*210T>C)
c.1970T>C (p.Phe657Ser)
c.1445T>C (p.Phe482Ser)
c.1688T>C (p.Phe563Ser)
c.*220T>C (n.*220T>C)
c.1931T>C (p.Phe644Ser)
c.1979T>C (p.Phe660Ser)
c.1976T>C (p.Phe659Ser)
c.1943T>C (p.Phe648Ser)
3g.189894441T>GCA355751612TP63c.1982T>G (p.Phe661Cys)
c.1700T>G (p.Phe567Cys)
c.*210T>G (n.*210T>G)
c.1970T>G (p.Phe657Cys)
c.1445T>G (p.Phe482Cys)
c.1688T>G (p.Phe563Cys)
c.*220T>G (n.*220T>G)
c.1931T>G (p.Phe644Cys)
c.1979T>G (p.Phe660Cys)
c.1976T>G (p.Phe659Cys)
c.1943T>G (p.Phe648Cys)
3g.189894442C>ACA355751613TP63c.1983C>A (p.Phe661Leu)
c.1701C>A (p.Phe567Leu)
c.*211C>A (n.*211C>A)
c.1971C>A (p.Phe657Leu)
c.1446C>A (p.Phe482Leu)
c.1689C>A (p.Phe563Leu)
c.*221C>A (n.*221C>A)
c.1932C>A (p.Phe644Leu)
c.1980C>A (p.Phe660Leu)
c.1977C>A (p.Phe659Leu)
c.1944C>A (p.Phe648Leu)
3g.189894442C>GCA355751614TP63c.1983C>G (p.Phe661Leu)
c.1701C>G (p.Phe567Leu)
c.*211C>G (n.*211C>G)
c.1971C>G (p.Phe657Leu)
c.1446C>G (p.Phe482Leu)
c.1689C>G (p.Phe563Leu)
c.*221C>G (n.*221C>G)
c.1932C>G (p.Phe644Leu)
c.1980C>G (p.Phe660Leu)
c.1977C>G (p.Phe659Leu)
c.1944C>G (p.Phe648Leu)
3g.189894442C>TCA437637291TP63c.1983C>T (p.Phe661=)
c.1701C>T (p.Phe567=)
c.*211C>T (n.*211C>T)
c.1971C>T (p.Phe657=)
c.1446C>T (p.Phe482=)
c.1689C>T (p.Phe563=)
c.*221C>T (n.*221C>T)
c.1932C>T (p.Phe644=)
c.1980C>T (p.Phe660=)
c.1977C>T (p.Phe659=)
c.1944C>T (p.Phe648=)
3g.189894443A=CA1428535293TP63c.1984A= (p.Asn662=)
c.1702A= (p.Asn568=)
c.*212A= (n.*212A=)
c.1972A= (p.Asn658=)
c.1447A= (p.Asn483=)
c.1690A= (p.Asn564=)
c.*222A= (n.*222A=)
c.1933A= (p.Asn645=)
c.1981A= (p.Asn661=)
c.1978A= (p.Asn660=)
c.1945A= (p.Asn649=)
3g.189894443A>CCA355751615TP63c.1984A>C (p.Asn662His)
c.1702A>C (p.Asn568His)
c.*212A>C (n.*212A>C)
c.1972A>C (p.Asn658His)
c.1447A>C (p.Asn483His)
c.1690A>C (p.Asn564His)
c.*222A>C (n.*222A>C)
c.1933A>C (p.Asn645His)
c.1981A>C (p.Asn661His)
c.1978A>C (p.Asn660His)
c.1945A>C (p.Asn649His)
3g.189894443A>GCA2752603TP63c.1984A>G (p.Asn662Asp)
c.1702A>G (p.Asn568Asp)
c.*212A>G (n.*212A>G)
c.1972A>G (p.Asn658Asp)
c.1447A>G (p.Asn483Asp)
c.1690A>G (p.Asn564Asp)
c.*222A>G (n.*222A>G)
c.1933A>G (p.Asn645Asp)
c.1981A>G (p.Asn661Asp)
c.1978A>G (p.Asn660Asp)
c.1945A>G (p.Asn649Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894443A>TCA355751616TP63c.1984A>T (p.Asn662Tyr)
c.1702A>T (p.Asn568Tyr)
c.*212A>T (n.*212A>T)
c.1972A>T (p.Asn658Tyr)
c.1447A>T (p.Asn483Tyr)
c.1690A>T (p.Asn564Tyr)
c.*222A>T (n.*222A>T)
c.1933A>T (p.Asn645Tyr)
c.1981A>T (p.Asn661Tyr)
c.1978A>T (p.Asn660Tyr)
c.1945A>T (p.Asn649Tyr)
 gnomAD v4
3g.189894444A=CA1428535294TP63c.1985A= (p.Asn662=)
c.1703A= (p.Asn568=)
c.*213A= (n.*213A=)
c.1973A= (p.Asn658=)
c.1448A= (p.Asn483=)
c.1691A= (p.Asn564=)
c.*223A= (n.*223A=)
c.1934A= (p.Asn645=)
c.1982A= (p.Asn661=)
c.1979A= (p.Asn660=)
c.1946A= (p.Asn649=)
3g.189894444A>CCA355751617TP63c.1985A>C (p.Asn662Thr)
c.1703A>C (p.Asn568Thr)
c.*213A>C (n.*213A>C)
c.1973A>C (p.Asn658Thr)
c.1448A>C (p.Asn483Thr)
c.1691A>C (p.Asn564Thr)
c.*223A>C (n.*223A>C)
c.1934A>C (p.Asn645Thr)
c.1982A>C (p.Asn661Thr)
c.1979A>C (p.Asn660Thr)
c.1946A>C (p.Asn649Thr)
 dbSNP
3g.189894444A>GCA2752604TP63c.1985A>G (p.Asn662Ser)
c.1703A>G (p.Asn568Ser)
c.*213A>G (n.*213A>G)
c.1973A>G (p.Asn658Ser)
c.1448A>G (p.Asn483Ser)
c.1691A>G (p.Asn564Ser)
c.*223A>G (n.*223A>G)
c.1934A>G (p.Asn645Ser)
c.1982A>G (p.Asn661Ser)
c.1979A>G (p.Asn660Ser)
c.1946A>G (p.Asn649Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.189894444A>TCA355751618TP63c.1985A>T (p.Asn662Ile)
c.1703A>T (p.Asn568Ile)
c.*213A>T (n.*213A>T)
c.1973A>T (p.Asn658Ile)
c.1448A>T (p.Asn483Ile)
c.1691A>T (p.Asn564Ile)
c.*223A>T (n.*223A>T)
c.1934A>T (p.Asn645Ile)
c.1982A>T (p.Asn661Ile)
c.1979A>T (p.Asn660Ile)
c.1946A>T (p.Asn649Ile)
 dbSNP
3g.189894445C>ACA355751620TP63c.1986C>A (p.Asn662Lys)
c.1704C>A (p.Asn568Lys)
c.*214C>A (n.*214C>A)
c.1974C>A (p.Asn658Lys)
c.1449C>A (p.Asn483Lys)
c.1692C>A (p.Asn564Lys)
c.*224C>A (n.*224C>A)
c.1935C>A (p.Asn645Lys)
c.1983C>A (p.Asn661Lys)
c.1980C>A (p.Asn660Lys)
c.1947C>A (p.Asn649Lys)
 dbSNP
3g.189894445C=CA1428535295TP63c.1986C= (p.Asn662=)
c.1704C= (p.Asn568=)
c.*214C= (n.*214C=)
c.1974C= (p.Asn658=)
c.1449C= (p.Asn483=)
c.1692C= (p.Asn564=)
c.*224C= (n.*224C=)
c.1935C= (p.Asn645=)
c.1983C= (p.Asn661=)
c.1980C= (p.Asn660=)
c.1947C= (p.Asn649=)
3g.189894445C>GCA355751619TP63c.1986C>G (p.Asn662Lys)
c.1704C>G (p.Asn568Lys)
c.*214C>G (n.*214C>G)
c.1974C>G (p.Asn658Lys)
c.1449C>G (p.Asn483Lys)
c.1692C>G (p.Asn564Lys)
c.*224C>G (n.*224C>G)
c.1935C>G (p.Asn645Lys)
c.1983C>G (p.Asn661Lys)
c.1980C>G (p.Asn660Lys)
c.1947C>G (p.Asn649Lys)
 dbSNP
3g.189894445C>TCA2752605TP63c.1986C>T (p.Asn662=)
c.1704C>T (p.Asn568=)
c.*214C>T (n.*214C>T)
c.1974C>T (p.Asn658=)
c.1449C>T (p.Asn483=)
c.1692C>T (p.Asn564=)
c.*224C>T (n.*224C>T)
c.1935C>T (p.Asn645=)
c.1983C>T (p.Asn661=)
c.1980C>T (p.Asn660=)
c.1947C>T (p.Asn649=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894446T>ACA355751622TP63c.1987T>A (p.Phe663Ile)
c.1705T>A (p.Phe569Ile)
c.*215T>A (n.*215T>A)
c.1975T>A (p.Phe659Ile)
c.1450T>A (p.Phe484Ile)
c.1693T>A (p.Phe565Ile)
c.*225T>A (n.*225T>A)
c.1936T>A (p.Phe646Ile)
c.1984T>A (p.Phe662Ile)
c.1981T>A (p.Phe661Ile)
c.1948T>A (p.Phe650Ile)
3g.189894446T>CCA355751621TP63c.1987T>C (p.Phe663Leu)
c.1705T>C (p.Phe569Leu)
c.*215T>C (n.*215T>C)
c.1975T>C (p.Phe659Leu)
c.1450T>C (p.Phe484Leu)
c.1693T>C (p.Phe565Leu)
c.*225T>C (n.*225T>C)
c.1936T>C (p.Phe646Leu)
c.1984T>C (p.Phe662Leu)
c.1981T>C (p.Phe661Leu)
c.1948T>C (p.Phe650Leu)
3g.189894446T>GCA355751623TP63c.1987T>G (p.Phe663Val)
c.1705T>G (p.Phe569Val)
c.*215T>G (n.*215T>G)
c.1975T>G (p.Phe659Val)
c.1450T>G (p.Phe484Val)
c.1693T>G (p.Phe565Val)
c.*225T>G (n.*225T>G)
c.1936T>G (p.Phe646Val)
c.1984T>G (p.Phe662Val)
c.1981T>G (p.Phe661Val)
c.1948T>G (p.Phe650Val)
3g.189894447T>ACA355751624TP63c.1988T>A (p.Phe663Tyr)
c.1706T>A (p.Phe569Tyr)
c.*216T>A (n.*216T>A)
c.1976T>A (p.Phe659Tyr)
c.1451T>A (p.Phe484Tyr)
c.1694T>A (p.Phe565Tyr)
c.*226T>A (n.*226T>A)
c.1937T>A (p.Phe646Tyr)
c.1985T>A (p.Phe662Tyr)
c.1982T>A (p.Phe661Tyr)
c.1949T>A (p.Phe650Tyr)
 dbSNP gnomAD v4
3g.189894447T>CCA355751625TP63c.1988T>C (p.Phe663Ser)
c.1706T>C (p.Phe569Ser)
c.*216T>C (n.*216T>C)
c.1976T>C (p.Phe659Ser)
c.1451T>C (p.Phe484Ser)
c.1694T>C (p.Phe565Ser)
c.*226T>C (n.*226T>C)
c.1937T>C (p.Phe646Ser)
c.1985T>C (p.Phe662Ser)
c.1982T>C (p.Phe661Ser)
c.1949T>C (p.Phe650Ser)
3g.189894447T>GCA355751626TP63c.1988T>G (p.Phe663Cys)
c.1706T>G (p.Phe569Cys)
c.*216T>G (n.*216T>G)
c.1976T>G (p.Phe659Cys)
c.1451T>G (p.Phe484Cys)
c.1694T>G (p.Phe565Cys)
c.*226T>G (n.*226T>G)
c.1937T>G (p.Phe646Cys)
c.1985T>G (p.Phe662Cys)
c.1982T>G (p.Phe661Cys)
c.1949T>G (p.Phe650Cys)
3g.189894448T>ACA355751627TP63c.1989T>A (p.Phe663Leu)
c.1707T>A (p.Phe569Leu)
c.*217T>A (n.*217T>A)
c.1977T>A (p.Phe659Leu)
c.1452T>A (p.Phe484Leu)
c.1695T>A (p.Phe565Leu)
c.*227T>A (n.*227T>A)
c.1938T>A (p.Phe646Leu)
c.1986T>A (p.Phe662Leu)
c.1983T>A (p.Phe661Leu)
c.1950T>A (p.Phe650Leu)
3g.189894448T>CCA437637315TP63c.1989T>C (p.Phe663=)
c.1707T>C (p.Phe569=)
c.*217T>C (n.*217T>C)
c.1977T>C (p.Phe659=)
c.1452T>C (p.Phe484=)
c.1695T>C (p.Phe565=)
c.*227T>C (n.*227T>C)
c.1938T>C (p.Phe646=)
c.1986T>C (p.Phe662=)
c.1983T>C (p.Phe661=)
c.1950T>C (p.Phe650=)
 dbSNP
3g.189894448T>GCA355751628TP63c.1989T>G (p.Phe663Leu)
c.1707T>G (p.Phe569Leu)
c.*217T>G (n.*217T>G)
c.1977T>G (p.Phe659Leu)
c.1452T>G (p.Phe484Leu)
c.1695T>G (p.Phe565Leu)
c.*227T>G (n.*227T>G)
c.1938T>G (p.Phe646Leu)
c.1986T>G (p.Phe662Leu)
c.1983T>G (p.Phe661Leu)
c.1950T>G (p.Phe650Leu)
3g.189894449G>ACA355751629TP63c.1990G>A (p.Asp664Asn)
c.1708G>A (p.Asp570Asn)
c.*218G>A (n.*218G>A)
c.1978G>A (p.Asp660Asn)
c.1453G>A (p.Asp485Asn)
c.1696G>A (p.Asp566Asn)
c.*228G>A (n.*228G>A)
c.1939G>A (p.Asp647Asn)
c.1987G>A (p.Asp663Asn)
c.1984G>A (p.Asp662Asn)
c.1951G>A (p.Asp651Asn)
 dbSNP
3g.189894449G>CCA355751630TP63c.1990G>C (p.Asp664His)
c.1708G>C (p.Asp570His)
c.*218G>C (n.*218G>C)
c.1978G>C (p.Asp660His)
c.1453G>C (p.Asp485His)
c.1696G>C (p.Asp566His)
c.*228G>C (n.*228G>C)
c.1939G>C (p.Asp647His)
c.1987G>C (p.Asp663His)
c.1984G>C (p.Asp662His)
c.1951G>C (p.Asp651His)
 dbSNP
3g.189894449G>TCA355751631TP63c.1990G>T (p.Asp664Tyr)
c.1708G>T (p.Asp570Tyr)
c.*218G>T (n.*218G>T)
c.1978G>T (p.Asp660Tyr)
c.1453G>T (p.Asp485Tyr)
c.1696G>T (p.Asp566Tyr)
c.*228G>T (n.*228G>T)
c.1939G>T (p.Asp647Tyr)
c.1987G>T (p.Asp663Tyr)
c.1984G>T (p.Asp662Tyr)
c.1951G>T (p.Asp651Tyr)
3g.189894450A=CA1428535296TP63c.1991A= (p.Asp664=)
c.1709A= (p.Asp570=)
c.*219A= (n.*219A=)
c.1979A= (p.Asp660=)
c.1454A= (p.Asp485=)
c.1697A= (p.Asp566=)
c.*229A= (n.*229A=)
c.1940A= (p.Asp647=)
c.1988A= (p.Asp663=)
c.1985A= (p.Asp662=)
c.1952A= (p.Asp651=)
3g.189894450A>CCA355751632TP63c.1991A>C (p.Asp664Ala)
c.1709A>C (p.Asp570Ala)
c.*219A>C (n.*219A>C)
c.1979A>C (p.Asp660Ala)
c.1454A>C (p.Asp485Ala)
c.1697A>C (p.Asp566Ala)
c.*229A>C (n.*229A>C)
c.1940A>C (p.Asp647Ala)
c.1988A>C (p.Asp663Ala)
c.1985A>C (p.Asp662Ala)
c.1952A>C (p.Asp651Ala)
3g.189894450A>GCA89713363TP63c.1991A>G (p.Asp664Gly)
c.1709A>G (p.Asp570Gly)
c.*219A>G (n.*219A>G)
c.1979A>G (p.Asp660Gly)
c.1454A>G (p.Asp485Gly)
c.1697A>G (p.Asp566Gly)
c.*229A>G (n.*229A>G)
c.1940A>G (p.Asp647Gly)
c.1988A>G (p.Asp663Gly)
c.1985A>G (p.Asp662Gly)
c.1952A>G (p.Asp651Gly)
 dbSNP
3g.189894450A>TCA355751633TP63c.1991A>T (p.Asp664Val)
c.1709A>T (p.Asp570Val)
c.*219A>T (n.*219A>T)
c.1979A>T (p.Asp660Val)
c.1454A>T (p.Asp485Val)
c.1697A>T (p.Asp566Val)
c.*229A>T (n.*229A>T)
c.1940A>T (p.Asp647Val)
c.1988A>T (p.Asp663Val)
c.1985A>T (p.Asp662Val)
c.1952A>T (p.Asp651Val)
 dbSNP
3g.189894451C>ACA355751634TP63c.1992C>A (p.Asp664Glu)
c.1710C>A (p.Asp570Glu)
c.*220C>A (n.*220C>A)
c.1980C>A (p.Asp660Glu)
c.1455C>A (p.Asp485Glu)
c.1698C>A (p.Asp566Glu)
c.*230C>A (n.*230C>A)
c.1941C>A (p.Asp647Glu)
c.1989C>A (p.Asp663Glu)
c.1986C>A (p.Asp662Glu)
c.1953C>A (p.Asp651Glu)
 dbSNP
3g.189894451C>GCA355751635TP63c.1992C>G (p.Asp664Glu)
c.1710C>G (p.Asp570Glu)
c.*220C>G (n.*220C>G)
c.1980C>G (p.Asp660Glu)
c.1455C>G (p.Asp485Glu)
c.1698C>G (p.Asp566Glu)
c.*230C>G (n.*230C>G)
c.1941C>G (p.Asp647Glu)
c.1989C>G (p.Asp663Glu)
c.1986C>G (p.Asp662Glu)
c.1953C>G (p.Asp651Glu)
 dbSNP
3g.189894451C>TCA437637319TP63c.1992C>T (p.Asp664=)
c.1710C>T (p.Asp570=)
c.*220C>T (n.*220C>T)
c.1980C>T (p.Asp660=)
c.1455C>T (p.Asp485=)
c.1698C>T (p.Asp566=)
c.*230C>T (n.*230C>T)
c.1941C>T (p.Asp647=)
c.1989C>T (p.Asp663=)
c.1986C>T (p.Asp662=)
c.1953C>T (p.Asp651=)
 dbSNP gnomAD v4
3g.189894452A>CCA355751638TP63c.1993A>C (p.Met665Leu)
c.1711A>C (p.Met571Leu)
c.*221A>C (n.*221A>C)
c.1981A>C (p.Met661Leu)
c.1456A>C (p.Met486Leu)
c.1699A>C (p.Met567Leu)
c.*231A>C (n.*231A>C)
c.1942A>C (p.Met648Leu)
c.1990A>C (p.Met664Leu)
c.1987A>C (p.Met663Leu)
c.1954A>C (p.Met652Leu)
 dbSNP
3g.189894452A>GCA355751636TP63c.1993A>G (p.Met665Val)
c.1711A>G (p.Met571Val)
c.*221A>G (n.*221A>G)
c.1981A>G (p.Met661Val)
c.1456A>G (p.Met486Val)
c.1699A>G (p.Met567Val)
c.*231A>G (n.*231A>G)
c.1942A>G (p.Met648Val)
c.1990A>G (p.Met664Val)
c.1987A>G (p.Met663Val)
c.1954A>G (p.Met652Val)
 dbSNP gnomAD v4
3g.189894452A>TCA355751637TP63c.1993A>T (p.Met665Leu)
c.1711A>T (p.Met571Leu)
c.*221A>T (n.*221A>T)
c.1981A>T (p.Met661Leu)
c.1456A>T (p.Met486Leu)
c.1699A>T (p.Met567Leu)
c.*231A>T (n.*231A>T)
c.1942A>T (p.Met648Leu)
c.1990A>T (p.Met664Leu)
c.1987A>T (p.Met663Leu)
c.1954A>T (p.Met652Leu)
3g.189894453T>ACA355751639TP63c.1994T>A (p.Met665Lys)
c.1712T>A (p.Met571Lys)
c.*222T>A (n.*222T>A)
c.1982T>A (p.Met661Lys)
c.1457T>A (p.Met486Lys)
c.1700T>A (p.Met567Lys)
c.*232T>A (n.*232T>A)
c.1943T>A (p.Met648Lys)
c.1991T>A (p.Met664Lys)
c.1988T>A (p.Met663Lys)
c.1955T>A (p.Met652Lys)
3g.189894453T>CCA355751640TP63c.1994T>C (p.Met665Thr)
c.1712T>C (p.Met571Thr)
c.*222T>C (n.*222T>C)
c.1982T>C (p.Met661Thr)
c.1457T>C (p.Met486Thr)
c.1700T>C (p.Met567Thr)
c.*232T>C (n.*232T>C)
c.1943T>C (p.Met648Thr)
c.1991T>C (p.Met664Thr)
c.1988T>C (p.Met663Thr)
c.1955T>C (p.Met652Thr)
 gnomAD v4
3g.189894453T>GCA10618214TP63c.1994T>G (p.Met665Arg)
c.1712T>G (p.Met571Arg)
c.*222T>G (n.*222T>G)
c.1982T>G (p.Met661Arg)
c.1457T>G (p.Met486Arg)
c.1700T>G (p.Met567Arg)
c.*232T>G (n.*232T>G)
c.1943T>G (p.Met648Arg)
c.1991T>G (p.Met664Arg)
c.1988T>G (p.Met663Arg)
c.1955T>G (p.Met652Arg)
 ClinVar dbSNP
3g.189894453T=CA1428535297TP63c.1994T= (p.Met665=)
c.1712T= (p.Met571=)
c.*222T= (n.*222T=)
c.1982T= (p.Met661=)
c.1457T= (p.Met486=)
c.1700T= (p.Met567=)
c.*232T= (n.*232T=)
c.1943T= (p.Met648=)
c.1991T= (p.Met664=)
c.1988T= (p.Met663=)
c.1955T= (p.Met652=)
3g.189894454G>ACA355751641TP63c.1995G>A (p.Met665Ile)
c.1713G>A (p.Met571Ile)
c.*223G>A (n.*223G>A)
c.1983G>A (p.Met661Ile)
c.1458G>A (p.Met486Ile)
c.1701G>A (p.Met567Ile)
c.*233G>A (n.*233G>A)
c.1944G>A (p.Met648Ile)
c.1992G>A (p.Met664Ile)
c.1989G>A (p.Met663Ile)
c.1956G>A (p.Met652Ile)
 COSMIC
3g.189894454G>CCA355751642TP63c.1995G>C (p.Met665Ile)
c.1713G>C (p.Met571Ile)
c.*223G>C (n.*223G>C)
c.1983G>C (p.Met661Ile)
c.1458G>C (p.Met486Ile)
c.1701G>C (p.Met567Ile)
c.*233G>C (n.*233G>C)
c.1944G>C (p.Met648Ile)
c.1992G>C (p.Met664Ile)
c.1989G>C (p.Met663Ile)
c.1956G>C (p.Met652Ile)
3g.189894454G>TCA355751643TP63c.1995G>T (p.Met665Ile)
c.1713G>T (p.Met571Ile)
c.*223G>T (n.*223G>T)
c.1983G>T (p.Met661Ile)
c.1458G>T (p.Met486Ile)
c.1701G>T (p.Met567Ile)
c.*233G>T (n.*233G>T)
c.1944G>T (p.Met648Ile)
c.1992G>T (p.Met664Ile)
c.1989G>T (p.Met663Ile)
c.1956G>T (p.Met652Ile)
3g.189894454_189894455delCA2704982906TP63c.1995_1996del (p.Met665IlefsTer6)
c.1713_1714del (p.Met571IlefsTer6)
c.*223_*224del (n.*223_*224del)
c.1983_1984del (p.Met661IlefsTer6)
c.1458_1459del (p.Met486IlefsTer6)
c.1701_1702del (p.Met567IlefsTer6)
c.*233_*234del (n.*233_*234del)
c.1944_1945del (p.Met648IlefsTer6)
c.1992_1993del (p.Met664IlefsTer6)
c.1989_1990del (p.Met663IlefsTer6)
c.1956_1957del (p.Met652IlefsTer6)
 dbSNP
3g.189894455G>ACA355751644TP63c.1996G>A (p.Asp666Asn)
c.1714G>A (p.Asp572Asn)
c.*224G>A (n.*224G>A)
c.1984G>A (p.Asp662Asn)
c.1459G>A (p.Asp487Asn)
c.1702G>A (p.Asp568Asn)
c.*234G>A (n.*234G>A)
c.1945G>A (p.Asp649Asn)
c.1993G>A (p.Asp665Asn)
c.1990G>A (p.Asp664Asn)
c.1957G>A (p.Asp653Asn)
 dbSNP gnomAD v4
3g.189894455G>CCA355751645TP63c.1996G>C (p.Asp666His)
c.1714G>C (p.Asp572His)
c.*224G>C (n.*224G>C)
c.1984G>C (p.Asp662His)
c.1459G>C (p.Asp487His)
c.1702G>C (p.Asp568His)
c.*234G>C (n.*234G>C)
c.1945G>C (p.Asp649His)
c.1993G>C (p.Asp665His)
c.1990G>C (p.Asp664His)
c.1957G>C (p.Asp653His)
 dbSNP
3g.189894455G>TCA355751646TP63c.1996G>T (p.Asp666Tyr)
c.1714G>T (p.Asp572Tyr)
c.*224G>T (n.*224G>T)
c.1984G>T (p.Asp662Tyr)
c.1459G>T (p.Asp487Tyr)
c.1702G>T (p.Asp568Tyr)
c.*234G>T (n.*234G>T)
c.1945G>T (p.Asp649Tyr)
c.1993G>T (p.Asp665Tyr)
c.1990G>T (p.Asp664Tyr)
c.1957G>T (p.Asp653Tyr)
3g.189894456A>CCA355751647TP63c.1997A>C (p.Asp666Ala)
c.1715A>C (p.Asp572Ala)
c.*225A>C (n.*225A>C)
c.1985A>C (p.Asp662Ala)
c.1460A>C (p.Asp487Ala)
c.1703A>C (p.Asp568Ala)
c.*235A>C (n.*235A>C)
c.1946A>C (p.Asp649Ala)
c.1994A>C (p.Asp665Ala)
c.1991A>C (p.Asp664Ala)
c.1958A>C (p.Asp653Ala)
3g.189894456A>GCA355751648TP63c.1997A>G (p.Asp666Gly)
c.1715A>G (p.Asp572Gly)
c.*225A>G (n.*225A>G)
c.1985A>G (p.Asp662Gly)
c.1460A>G (p.Asp487Gly)
c.1703A>G (p.Asp568Gly)
c.*235A>G (n.*235A>G)
c.1946A>G (p.Asp649Gly)
c.1994A>G (p.Asp665Gly)
c.1991A>G (p.Asp664Gly)
c.1958A>G (p.Asp653Gly)
3g.189894456A>TCA355751649TP63c.1997A>T (p.Asp666Val)
c.1715A>T (p.Asp572Val)
c.*225A>T (n.*225A>T)
c.1985A>T (p.Asp662Val)
c.1460A>T (p.Asp487Val)
c.1703A>T (p.Asp568Val)
c.*235A>T (n.*235A>T)
c.1946A>T (p.Asp649Val)
c.1994A>T (p.Asp665Val)
c.1991A>T (p.Asp664Val)
c.1958A>T (p.Asp653Val)
 dbSNP gnomAD v4
3g.189894457T>ACA355751650TP63c.1998T>A (p.Asp666Glu)
c.1716T>A (p.Asp572Glu)
c.*226T>A (n.*226T>A)
c.1986T>A (p.Asp662Glu)
c.1461T>A (p.Asp487Glu)
c.1704T>A (p.Asp568Glu)
c.*236T>A (n.*236T>A)
c.1947T>A (p.Asp649Glu)
c.1995T>A (p.Asp665Glu)
c.1992T>A (p.Asp664Glu)
c.1959T>A (p.Asp653Glu)
3g.189894457T>CCA437637332TP63c.1998T>C (p.Asp666=)
c.1716T>C (p.Asp572=)
c.*226T>C (n.*226T>C)
c.1986T>C (p.Asp662=)
c.1461T>C (p.Asp487=)
c.1704T>C (p.Asp568=)
c.*236T>C (n.*236T>C)
c.1947T>C (p.Asp649=)
c.1995T>C (p.Asp665=)
c.1992T>C (p.Asp664=)
c.1959T>C (p.Asp653=)
3g.189894457T>GCA355751651TP63c.1998T>G (p.Asp666Glu)
c.1716T>G (p.Asp572Glu)
c.*226T>G (n.*226T>G)
c.1986T>G (p.Asp662Glu)
c.1461T>G (p.Asp487Glu)
c.1704T>G (p.Asp568Glu)
c.*236T>G (n.*236T>G)
c.1947T>G (p.Asp649Glu)
c.1995T>G (p.Asp665Glu)
c.1992T>G (p.Asp664Glu)
c.1959T>G (p.Asp653Glu)
3g.189894458G>ACA355751652TP63c.1999G>A (p.Ala667Thr)
c.1717G>A (p.Ala573Thr)
c.*227G>A (n.*227G>A)
c.1987G>A (p.Ala663Thr)
c.1462G>A (p.Ala488Thr)
c.1705G>A (p.Ala569Thr)
c.*237G>A (n.*237G>A)
c.1948G>A (p.Ala650Thr)
c.1996G>A (p.Ala666Thr)
c.1993G>A (p.Ala665Thr)
c.1960G>A (p.Ala654Thr)
 dbSNP
3g.189894458G>CCA355751653TP63c.1999G>C (p.Ala667Pro)
c.1717G>C (p.Ala573Pro)
c.*227G>C (n.*227G>C)
c.1987G>C (p.Ala663Pro)
c.1462G>C (p.Ala488Pro)
c.1705G>C (p.Ala569Pro)
c.*237G>C (n.*237G>C)
c.1948G>C (p.Ala650Pro)
c.1996G>C (p.Ala666Pro)
c.1993G>C (p.Ala665Pro)
c.1960G>C (p.Ala654Pro)
3g.189894458G>TCA355751654TP63c.1999G>T (p.Ala667Ser)
c.1717G>T (p.Ala573Ser)
c.*227G>T (n.*227G>T)
c.1987G>T (p.Ala663Ser)
c.1462G>T (p.Ala488Ser)
c.1705G>T (p.Ala569Ser)
c.*237G>T (n.*237G>T)
c.1948G>T (p.Ala650Ser)
c.1996G>T (p.Ala666Ser)
c.1993G>T (p.Ala665Ser)
c.1960G>T (p.Ala654Ser)
3g.189894459C>ACA355751655TP63c.2000C>A (p.Ala667Asp)
c.1718C>A (p.Ala573Asp)
c.*228C>A (n.*228C>A)
c.1988C>A (p.Ala663Asp)
c.1463C>A (p.Ala488Asp)
c.1706C>A (p.Ala569Asp)
c.*238C>A (n.*238C>A)
c.1949C>A (p.Ala650Asp)
c.1997C>A (p.Ala666Asp)
c.1994C>A (p.Ala665Asp)
c.1961C>A (p.Ala654Asp)
 dbSNP
3g.189894459C>GCA355751656TP63c.2000C>G (p.Ala667Gly)
c.1718C>G (p.Ala573Gly)
c.*228C>G (n.*228C>G)
c.1988C>G (p.Ala663Gly)
c.1463C>G (p.Ala488Gly)
c.1706C>G (p.Ala569Gly)
c.*238C>G (n.*238C>G)
c.1949C>G (p.Ala650Gly)
c.1997C>G (p.Ala666Gly)
c.1994C>G (p.Ala665Gly)
c.1961C>G (p.Ala654Gly)
 dbSNP
3g.189894459C>TCA355751657TP63c.2000C>T (p.Ala667Val)
c.1718C>T (p.Ala573Val)
c.*228C>T (n.*228C>T)
c.1988C>T (p.Ala663Val)
c.1463C>T (p.Ala488Val)
c.1706C>T (p.Ala569Val)
c.*238C>T (n.*238C>T)
c.1949C>T (p.Ala650Val)
c.1997C>T (p.Ala666Val)
c.1994C>T (p.Ala665Val)
c.1961C>T (p.Ala654Val)
 dbSNP gnomAD v4 COSMIC COSMIC
3g.189894460T>ACA437637333TP63c.2001T>A (p.Ala667=)
c.1719T>A (p.Ala573=)
c.*229T>A (n.*229T>A)
c.1989T>A (p.Ala663=)
c.1464T>A (p.Ala488=)
c.1707T>A (p.Ala569=)
c.*239T>A (n.*239T>A)
c.1950T>A (p.Ala650=)
c.1998T>A (p.Ala666=)
c.1995T>A (p.Ala665=)
c.1962T>A (p.Ala654=)
 dbSNP
3g.189894460T>CCA437637335TP63c.2001T>C (p.Ala667=)
c.1719T>C (p.Ala573=)
c.*229T>C (n.*229T>C)
c.1989T>C (p.Ala663=)
c.1464T>C (p.Ala488=)
c.1707T>C (p.Ala569=)
c.*239T>C (n.*239T>C)
c.1950T>C (p.Ala650=)
c.1998T>C (p.Ala666=)
c.1995T>C (p.Ala665=)
c.1962T>C (p.Ala654=)
 dbSNP
3g.189894460T>GCA437637338TP63c.2001T>G (p.Ala667=)
c.1719T>G (p.Ala573=)
c.*229T>G (n.*229T>G)
c.1989T>G (p.Ala663=)
c.1464T>G (p.Ala488=)
c.1707T>G (p.Ala569=)
c.*239T>G (n.*239T>G)
c.1950T>G (p.Ala650=)
c.1998T>G (p.Ala666=)
c.1995T>G (p.Ala665=)
c.1962T>G (p.Ala654=)
3g.189894461C>ACA355751658TP63c.2002C>A (p.Arg668Ser)
c.1720C>A (p.Arg574Ser)
c.*230C>A (n.*230C>A)
c.1990C>A (p.Arg664Ser)
c.1465C>A (p.Arg489Ser)
c.1708C>A (p.Arg570Ser)
c.*240C>A (n.*240C>A)
c.1951C>A (p.Arg651Ser)
c.1999C>A (p.Arg667Ser)
c.1996C>A (p.Arg666Ser)
c.1963C>A (p.Arg655Ser)
 dbSNP gnomAD v4
3g.189894461C=CA1428535298TP63c.2002C= (p.Arg668=)
c.1720C= (p.Arg574=)
c.*230C= (n.*230C=)
c.1990C= (p.Arg664=)
c.1465C= (p.Arg489=)
c.1708C= (p.Arg570=)
c.*240C= (n.*240C=)
c.1951C= (p.Arg651=)
c.1999C= (p.Arg667=)
c.1996C= (p.Arg666=)
c.1963C= (p.Arg655=)
3g.189894461C>GCA355751659TP63c.2002C>G (p.Arg668Gly)
c.1720C>G (p.Arg574Gly)
c.*230C>G (n.*230C>G)
c.1990C>G (p.Arg664Gly)
c.1465C>G (p.Arg489Gly)
c.1708C>G (p.Arg570Gly)
c.*240C>G (n.*240C>G)
c.1951C>G (p.Arg651Gly)
c.1999C>G (p.Arg667Gly)
c.1996C>G (p.Arg666Gly)
c.1963C>G (p.Arg655Gly)
 dbSNP
3g.189894461C>TCA2752606TP63c.2002C>T (p.Arg668Cys)
c.1720C>T (p.Arg574Cys)
c.*230C>T (n.*230C>T)
c.1990C>T (p.Arg664Cys)
c.1465C>T (p.Arg489Cys)
c.1708C>T (p.Arg570Cys)
c.*240C>T (n.*240C>T)
c.1951C>T (p.Arg651Cys)
c.1999C>T (p.Arg667Cys)
c.1996C>T (p.Arg666Cys)
c.1963C>T (p.Arg655Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894462G>ACA2752607TP63c.2003G>A (p.Arg668His)
c.1721G>A (p.Arg574His)
c.*231G>A (n.*231G>A)
c.1991G>A (p.Arg664His)
c.1466G>A (p.Arg489His)
c.1709G>A (p.Arg570His)
c.*241G>A (n.*241G>A)
c.1952G>A (p.Arg651His)
c.2000G>A (p.Arg667His)
c.1997G>A (p.Arg666His)
c.1964G>A (p.Arg655His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894462G>CCA355751660TP63c.2003G>C (p.Arg668Pro)
c.1721G>C (p.Arg574Pro)
c.*231G>C (n.*231G>C)
c.1991G>C (p.Arg664Pro)
c.1466G>C (p.Arg489Pro)
c.1709G>C (p.Arg570Pro)
c.*241G>C (n.*241G>C)
c.1952G>C (p.Arg651Pro)
c.2000G>C (p.Arg667Pro)
c.1997G>C (p.Arg666Pro)
c.1964G>C (p.Arg655Pro)
3g.189894462G=CA1428535299TP63c.2003G= (p.Arg668=)
c.1721G= (p.Arg574=)
c.*231G= (n.*231G=)
c.1991G= (p.Arg664=)
c.1466G= (p.Arg489=)
c.1709G= (p.Arg570=)
c.*241G= (n.*241G=)
c.1952G= (p.Arg651=)
c.2000G= (p.Arg667=)
c.1997G= (p.Arg666=)
c.1964G= (p.Arg655=)
3g.189894462G>TCA355751661TP63c.2003G>T (p.Arg668Leu)
c.1721G>T (p.Arg574Leu)
c.*231G>T (n.*231G>T)
c.1991G>T (p.Arg664Leu)
c.1466G>T (p.Arg489Leu)
c.1709G>T (p.Arg570Leu)
c.*241G>T (n.*241G>T)
c.1952G>T (p.Arg651Leu)
c.2000G>T (p.Arg667Leu)
c.1997G>T (p.Arg666Leu)
c.1964G>T (p.Arg655Leu)
 dbSNP
3g.189894463C>ACA437637340TP63c.2004C>A (p.Arg668=)
c.1722C>A (p.Arg574=)
c.*232C>A (n.*232C>A)
c.1992C>A (p.Arg664=)
c.1467C>A (p.Arg489=)
c.1710C>A (p.Arg570=)
c.*242C>A (n.*242C>A)
c.1953C>A (p.Arg651=)
c.2001C>A (p.Arg667=)
c.1998C>A (p.Arg666=)
c.1965C>A (p.Arg655=)
 dbSNP
3g.189894463C=CA1428535300TP63c.2004C= (p.Arg668=)
c.1722C= (p.Arg574=)
c.*232C= (n.*232C=)
c.1992C= (p.Arg664=)
c.1467C= (p.Arg489=)
c.1710C= (p.Arg570=)
c.*242C= (n.*242C=)
c.1953C= (p.Arg651=)
c.2001C= (p.Arg667=)
c.1998C= (p.Arg666=)
c.1965C= (p.Arg655=)
3g.189894463C>GCA437637342TP63c.2004C>G (p.Arg668=)
c.1722C>G (p.Arg574=)
c.*232C>G (n.*232C>G)
c.1992C>G (p.Arg664=)
c.1467C>G (p.Arg489=)
c.1710C>G (p.Arg570=)
c.*242C>G (n.*242C>G)
c.1953C>G (p.Arg651=)
c.2001C>G (p.Arg667=)
c.1998C>G (p.Arg666=)
c.1965C>G (p.Arg655=)
 dbSNP
3g.189894463C>TCA437637339TP63c.2004C>T (p.Arg668=)
c.1722C>T (p.Arg574=)
c.*232C>T (n.*232C>T)
c.1992C>T (p.Arg664=)
c.1467C>T (p.Arg489=)
c.1710C>T (p.Arg570=)
c.*242C>T (n.*242C>T)
c.1953C>T (p.Arg651=)
c.2001C>T (p.Arg667=)
c.1998C>T (p.Arg666=)
c.1965C>T (p.Arg655=)
 dbSNP gnomAD v2
3g.189894464C>ACA355751662TP63c.2005C>A (p.Arg669Ser)
c.1723C>A (p.Arg575Ser)
c.*233C>A (n.*233C>A)
c.1993C>A (p.Arg665Ser)
c.1468C>A (p.Arg490Ser)
c.1711C>A (p.Arg571Ser)
c.*243C>A (n.*243C>A)
c.1954C>A (p.Arg652Ser)
c.2002C>A (p.Arg668Ser)
c.1999C>A (p.Arg667Ser)
c.1966C>A (p.Arg656Ser)
3g.189894464C=CA1428535301TP63c.2005C= (p.Arg669=)
c.1723C= (p.Arg575=)
c.*233C= (n.*233C=)
c.1993C= (p.Arg665=)
c.1468C= (p.Arg490=)
c.1711C= (p.Arg571=)
c.*243C= (n.*243C=)
c.1954C= (p.Arg652=)
c.2002C= (p.Arg668=)
c.1999C= (p.Arg667=)
c.1966C= (p.Arg656=)
3g.189894464C>GCA355751663TP63c.2005C>G (p.Arg669Gly)
c.1723C>G (p.Arg575Gly)
c.*233C>G (n.*233C>G)
c.1993C>G (p.Arg665Gly)
c.1468C>G (p.Arg490Gly)
c.1711C>G (p.Arg571Gly)
c.*243C>G (n.*243C>G)
c.1954C>G (p.Arg652Gly)
c.2002C>G (p.Arg668Gly)
c.1999C>G (p.Arg667Gly)
c.1966C>G (p.Arg656Gly)
3g.189894464C>TCA2752608TP63c.2005C>T (p.Arg669Cys)
c.1723C>T (p.Arg575Cys)
c.*233C>T (n.*233C>T)
c.1993C>T (p.Arg665Cys)
c.1468C>T (p.Arg490Cys)
c.1711C>T (p.Arg571Cys)
c.*243C>T (n.*243C>T)
c.1954C>T (p.Arg652Cys)
c.2002C>T (p.Arg668Cys)
c.1999C>T (p.Arg667Cys)
c.1966C>T (p.Arg656Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894465G>ACA2752609TP63c.2006G>A (p.Arg669His)
c.1724G>A (p.Arg575His)
c.*234G>A (n.*234G>A)
c.1994G>A (p.Arg665His)
c.1469G>A (p.Arg490His)
c.1712G>A (p.Arg571His)
c.*244G>A (n.*244G>A)
c.1955G>A (p.Arg652His)
c.2003G>A (p.Arg668His)
c.2000G>A (p.Arg667His)
c.1967G>A (p.Arg656His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894465G>CCA355751664TP63c.2006G>C (p.Arg669Pro)
c.1724G>C (p.Arg575Pro)
c.*234G>C (n.*234G>C)
c.1994G>C (p.Arg665Pro)
c.1469G>C (p.Arg490Pro)
c.1712G>C (p.Arg571Pro)
c.*244G>C (n.*244G>C)
c.1955G>C (p.Arg652Pro)
c.2003G>C (p.Arg668Pro)
c.2000G>C (p.Arg667Pro)
c.1967G>C (p.Arg656Pro)
3g.189894465G=CA1428535302TP63c.2006G= (p.Arg669=)
c.1724G= (p.Arg575=)
c.*234G= (n.*234G=)
c.1994G= (p.Arg665=)
c.1469G= (p.Arg490=)
c.1712G= (p.Arg571=)
c.*244G= (n.*244G=)
c.1955G= (p.Arg652=)
c.2003G= (p.Arg668=)
c.2000G= (p.Arg667=)
c.1967G= (p.Arg656=)
3g.189894465G>TCA355751665TP63c.2006G>T (p.Arg669Leu)
c.1724G>T (p.Arg575Leu)
c.*234G>T (n.*234G>T)
c.1994G>T (p.Arg665Leu)
c.1469G>T (p.Arg490Leu)
c.1712G>T (p.Arg571Leu)
c.*244G>T (n.*244G>T)
c.1955G>T (p.Arg652Leu)
c.2003G>T (p.Arg668Leu)
c.2000G>T (p.Arg667Leu)
c.1967G>T (p.Arg656Leu)
 dbSNP
3g.189894466C>ACA437637343TP63c.2007C>A (p.Arg669=)
c.1725C>A (p.Arg575=)
c.*235C>A (n.*235C>A)
c.1995C>A (p.Arg665=)
c.1470C>A (p.Arg490=)
c.1713C>A (p.Arg571=)
c.*245C>A (n.*245C>A)
c.1956C>A (p.Arg652=)
c.2004C>A (p.Arg668=)
c.2001C>A (p.Arg667=)
c.1968C>A (p.Arg656=)
3g.189894466C>GCA437637344TP63c.2007C>G (p.Arg669=)
c.1725C>G (p.Arg575=)
c.*235C>G (n.*235C>G)
c.1995C>G (p.Arg665=)
c.1470C>G (p.Arg490=)
c.1713C>G (p.Arg571=)
c.*245C>G (n.*245C>G)
c.1956C>G (p.Arg652=)
c.2004C>G (p.Arg668=)
c.2001C>G (p.Arg667=)
c.1968C>G (p.Arg656=)
3g.189894466C>TCA437637345TP63c.2007C>T (p.Arg669=)
c.1725C>T (p.Arg575=)
c.*235C>T (n.*235C>T)
c.1995C>T (p.Arg665=)
c.1470C>T (p.Arg490=)
c.1713C>T (p.Arg571=)
c.*245C>T (n.*245C>T)
c.1956C>T (p.Arg652=)
c.2004C>T (p.Arg668=)
c.2001C>T (p.Arg667=)
c.1968C>T (p.Arg656=)
 gnomAD v4
3g.189894466_189894467delinsATCA645537856TP63c.2007_2008delinsAT (p.Asn670Tyr)
c.1725_1726delinsAT (p.Asn576Tyr)
c.*235_*236delinsAT (n.*235_*236delinsAT)
c.1995_1996delinsAT (p.Asn666Tyr)
c.1470_1471delinsAT (p.Asn491Tyr)
c.1713_1714delinsAT (p.Asn572Tyr)
c.*245_*246delinsAT (n.*245_*246delinsAT)
c.1956_1957delinsAT (p.Asn653Tyr)
c.2004_2005delinsAT (p.Asn669Tyr)
c.2001_2002delinsAT (p.Asn668Tyr)
c.1968_1969delinsAT (p.Asn657Tyr)
 COSMIC
3g.189894467A=CA1428535303TP63c.2008A= (p.Asn670=)
c.1726A= (p.Asn576=)
c.*236A= (n.*236A=)
c.1996A= (p.Asn666=)
c.1471A= (p.Asn491=)
c.1714A= (p.Asn572=)
c.*246A= (n.*246A=)
c.1957A= (p.Asn653=)
c.2005A= (p.Asn669=)
c.2002A= (p.Asn668=)
c.1969A= (p.Asn657=)
3g.189894467A>CCA2752610TP63c.2008A>C (p.Asn670His)
c.1726A>C (p.Asn576His)
c.*236A>C (n.*236A>C)
c.1996A>C (p.Asn666His)
c.1471A>C (p.Asn491His)
c.1714A>C (p.Asn572His)
c.*246A>C (n.*246A>C)
c.1957A>C (p.Asn653His)
c.2005A>C (p.Asn669His)
c.2002A>C (p.Asn668His)
c.1969A>C (p.Asn657His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894467A>GCA355751666TP63c.2008A>G (p.Asn670Asp)
c.1726A>G (p.Asn576Asp)
c.*236A>G (n.*236A>G)
c.1996A>G (p.Asn666Asp)
c.1471A>G (p.Asn491Asp)
c.1714A>G (p.Asn572Asp)
c.*246A>G (n.*246A>G)
c.1957A>G (p.Asn653Asp)
c.2005A>G (p.Asn669Asp)
c.2002A>G (p.Asn668Asp)
c.1969A>G (p.Asn657Asp)
3g.189894467A>TCA355751667TP63c.2008A>T (p.Asn670Tyr)
c.1726A>T (p.Asn576Tyr)
c.*236A>T (n.*236A>T)
c.1996A>T (p.Asn666Tyr)
c.1471A>T (p.Asn491Tyr)
c.1714A>T (p.Asn572Tyr)
c.*246A>T (n.*246A>T)
c.1957A>T (p.Asn653Tyr)
c.2005A>T (p.Asn669Tyr)
c.2002A>T (p.Asn668Tyr)
c.1969A>T (p.Asn657Tyr)
3g.189894468A=CA1428535304TP63c.2009A= (p.Asn670=)
c.1727A= (p.Asn576=)
c.*237A= (n.*237A=)
c.1997A= (p.Asn666=)
c.1472A= (p.Asn491=)
c.1715A= (p.Asn572=)
c.*247A= (n.*247A=)
c.1958A= (p.Asn653=)
c.2006A= (p.Asn669=)
c.2003A= (p.Asn668=)
c.1970A= (p.Asn657=)
3g.189894468A>CCA355751668TP63c.2009A>C (p.Asn670Thr)
c.1727A>C (p.Asn576Thr)
c.*237A>C (n.*237A>C)
c.1997A>C (p.Asn666Thr)
c.1472A>C (p.Asn491Thr)
c.1715A>C (p.Asn572Thr)
c.*247A>C (n.*247A>C)
c.1958A>C (p.Asn653Thr)
c.2006A>C (p.Asn669Thr)
c.2003A>C (p.Asn668Thr)
c.1970A>C (p.Asn657Thr)
3g.189894468A>GCA2752611TP63c.2009A>G (p.Asn670Ser)
c.1727A>G (p.Asn576Ser)
c.*237A>G (n.*237A>G)
c.1997A>G (p.Asn666Ser)
c.1472A>G (p.Asn491Ser)
c.1715A>G (p.Asn572Ser)
c.*247A>G (n.*247A>G)
c.1958A>G (p.Asn653Ser)
c.2006A>G (p.Asn669Ser)
c.2003A>G (p.Asn668Ser)
c.1970A>G (p.Asn657Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894468A>TCA355751669TP63c.2009A>T (p.Asn670Ile)
c.1727A>T (p.Asn576Ile)
c.*237A>T (n.*237A>T)
c.1997A>T (p.Asn666Ile)
c.1472A>T (p.Asn491Ile)
c.1715A>T (p.Asn572Ile)
c.*247A>T (n.*247A>T)
c.1958A>T (p.Asn653Ile)
c.2006A>T (p.Asn669Ile)
c.2003A>T (p.Asn668Ile)
c.1970A>T (p.Asn657Ile)
3g.189894469T>ACA355751670TP63c.2010T>A (p.Asn670Lys)
c.1728T>A (p.Asn576Lys)
c.*238T>A (n.*238T>A)
c.1998T>A (p.Asn666Lys)
c.1473T>A (p.Asn491Lys)
c.1716T>A (p.Asn572Lys)
c.*248T>A (n.*248T>A)
c.1959T>A (p.Asn653Lys)
c.2007T>A (p.Asn669Lys)
c.2004T>A (p.Asn668Lys)
c.1971T>A (p.Asn657Lys)
3g.189894469T>CCA437637349TP63c.2010T>C (p.Asn670=)
c.1728T>C (p.Asn576=)
c.*238T>C (n.*238T>C)
c.1998T>C (p.Asn666=)
c.1473T>C (p.Asn491=)
c.1716T>C (p.Asn572=)
c.*248T>C (n.*248T>C)
c.1959T>C (p.Asn653=)
c.2007T>C (p.Asn669=)
c.2004T>C (p.Asn668=)
c.1971T>C (p.Asn657=)
3g.189894469T>GCA355751671TP63c.2010T>G (p.Asn670Lys)
c.1728T>G (p.Asn576Lys)
c.*238T>G (n.*238T>G)
c.1998T>G (p.Asn666Lys)
c.1473T>G (p.Asn491Lys)
c.1716T>G (p.Asn572Lys)
c.*248T>G (n.*248T>G)
c.1959T>G (p.Asn653Lys)
c.2007T>G (p.Asn669Lys)
c.2004T>G (p.Asn668Lys)
c.1971T>G (p.Asn657Lys)
3g.189894470A>CCA355751672TP63c.2011A>C (p.Lys671Gln)
c.1729A>C (p.Lys577Gln)
c.*239A>C (n.*239A>C)
c.1999A>C (p.Lys667Gln)
c.1474A>C (p.Lys492Gln)
c.1717A>C (p.Lys573Gln)
c.*249A>C (n.*249A>C)
c.1960A>C (p.Lys654Gln)
c.2008A>C (p.Lys670Gln)
c.2005A>C (p.Lys669Gln)
c.1972A>C (p.Lys658Gln)
3g.189894470A>GCA355751673TP63c.2011A>G (p.Lys671Glu)
c.1729A>G (p.Lys577Glu)
c.*239A>G (n.*239A>G)
c.1999A>G (p.Lys667Glu)
c.1474A>G (p.Lys492Glu)
c.1717A>G (p.Lys573Glu)
c.*249A>G (n.*249A>G)
c.1960A>G (p.Lys654Glu)
c.2008A>G (p.Lys670Glu)
c.2005A>G (p.Lys669Glu)
c.1972A>G (p.Lys658Glu)
3g.189894470A>TCA355751674TP63c.2011A>T (p.Lys671Ter)
c.1729A>T (p.Lys577Ter)
c.*239A>T (n.*239A>T)
c.1999A>T (p.Lys667Ter)
c.1474A>T (p.Lys492Ter)
c.1717A>T (p.Lys573Ter)
c.*249A>T (n.*249A>T)
c.1960A>T (p.Lys654Ter)
c.2008A>T (p.Lys670Ter)
c.2005A>T (p.Lys669Ter)
c.1972A>T (p.Lys658Ter)
3g.189894471A>CCA355751676TP63c.2012A>C (p.Lys671Thr)
c.1730A>C (p.Lys577Thr)
c.*240A>C (n.*240A>C)
c.2000A>C (p.Lys667Thr)
c.1475A>C (p.Lys492Thr)
c.1718A>C (p.Lys573Thr)
c.*250A>C (n.*250A>C)
c.1961A>C (p.Lys654Thr)
c.2009A>C (p.Lys670Thr)
c.2006A>C (p.Lys669Thr)
c.1973A>C (p.Lys658Thr)
3g.189894471A>GCA355751677TP63c.2012A>G (p.Lys671Arg)
c.1730A>G (p.Lys577Arg)
c.*240A>G (n.*240A>G)
c.2000A>G (p.Lys667Arg)
c.1475A>G (p.Lys492Arg)
c.1718A>G (p.Lys573Arg)
c.*250A>G (n.*250A>G)
c.1961A>G (p.Lys654Arg)
c.2009A>G (p.Lys670Arg)
c.2006A>G (p.Lys669Arg)
c.1973A>G (p.Lys658Arg)
3g.189894471A>TCA355751675TP63c.2012A>T (p.Lys671Met)
c.1730A>T (p.Lys577Met)
c.*240A>T (n.*240A>T)
c.2000A>T (p.Lys667Met)
c.1475A>T (p.Lys492Met)
c.1718A>T (p.Lys573Met)
c.*250A>T (n.*250A>T)
c.1961A>T (p.Lys654Met)
c.2009A>T (p.Lys670Met)
c.2006A>T (p.Lys669Met)
c.1973A>T (p.Lys658Met)
3g.189894472G>ACA437637353TP63c.2013G>A (p.Lys671=)
c.1731G>A (p.Lys577=)
c.*241G>A (n.*241G>A)
c.2001G>A (p.Lys667=)
c.1476G>A (p.Lys492=)
c.1719G>A (p.Lys573=)
c.*251G>A (n.*251G>A)
c.1962G>A (p.Lys654=)
c.2010G>A (p.Lys670=)
c.2007G>A (p.Lys669=)
c.1974G>A (p.Lys658=)
 gnomAD v4
3g.189894472G>CCA2752612TP63c.2013G>C (p.Lys671Asn)
c.1731G>C (p.Lys577Asn)
c.*241G>C (n.*241G>C)
c.2001G>C (p.Lys667Asn)
c.1476G>C (p.Lys492Asn)
c.1719G>C (p.Lys573Asn)
c.*251G>C (n.*251G>C)
c.1962G>C (p.Lys654Asn)
c.2010G>C (p.Lys670Asn)
c.2007G>C (p.Lys669Asn)
c.1974G>C (p.Lys658Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189894472G=CA1428535305TP63c.2013G= (p.Lys671=)
c.1731G= (p.Lys577=)
c.*241G= (n.*241G=)
c.2001G= (p.Lys667=)
c.1476G= (p.Lys492=)
c.1719G= (p.Lys573=)
c.*251G= (n.*251G=)
c.1962G= (p.Lys654=)
c.2010G= (p.Lys670=)
c.2007G= (p.Lys669=)
c.1974G= (p.Lys658=)
3g.189894472G>TCA355751678TP63c.2013G>T (p.Lys671Asn)
c.1731G>T (p.Lys577Asn)
c.*241G>T (n.*241G>T)
c.2001G>T (p.Lys667Asn)
c.1476G>T (p.Lys492Asn)
c.1719G>T (p.Lys573Asn)
c.*251G>T (n.*251G>T)
c.1962G>T (p.Lys654Asn)
c.2010G>T (p.Lys670Asn)
c.2007G>T (p.Lys669Asn)
c.1974G>T (p.Lys658Asn)
3g.189894473C>ACA355751679TP63c.2014C>A (p.Gln672Lys)
c.1732C>A (p.Gln578Lys)
c.*242C>A (n.*242C>A)
c.2002C>A (p.Gln668Lys)
c.1477C>A (p.Gln493Lys)
c.1720C>A (p.Gln574Lys)
c.*252C>A (n.*252C>A)
c.1963C>A (p.Gln655Lys)
c.2011C>A (p.Gln671Lys)
c.2008C>A (p.Gln670Lys)
c.1975C>A (p.Gln659Lys)
3g.189894473C>GCA355751681TP63c.2014C>G (p.Gln672Glu)
c.1732C>G (p.Gln578Glu)
c.*242C>G (n.*242C>G)
c.2002C>G (p.Gln668Glu)
c.1477C>G (p.Gln493Glu)
c.1720C>G (p.Gln574Glu)
c.*252C>G (n.*252C>G)
c.1963C>G (p.Gln655Glu)
c.2011C>G (p.Gln671Glu)
c.2008C>G (p.Gln670Glu)
c.1975C>G (p.Gln659Glu)
3g.189894473C>TCA355751680TP63c.2014C>T (p.Gln672Ter)
c.1732C>T (p.Gln578Ter)
c.*242C>T (n.*242C>T)
c.2002C>T (p.Gln668Ter)
c.1477C>T (p.Gln493Ter)
c.1720C>T (p.Gln574Ter)
c.*252C>T (n.*252C>T)
c.1963C>T (p.Gln655Ter)
c.2011C>T (p.Gln671Ter)
c.2008C>T (p.Gln670Ter)
c.1975C>T (p.Gln659Ter)
 ClinVar
3g.189894474A=CA1428535306TP63c.2015A= (p.Gln672=)
c.1733A= (p.Gln578=)
c.*243A= (n.*243A=)
c.2003A= (p.Gln668=)
c.1478A= (p.Gln493=)
c.1721A= (p.Gln574=)
c.*253A= (n.*253A=)
c.1964A= (p.Gln655=)
c.2012A= (p.Gln671=)
c.2009A= (p.Gln670=)
c.1976A= (p.Gln659=)
3g.189894474A>CCA355751682TP63c.2015A>C (p.Gln672Pro)
c.1733A>C (p.Gln578Pro)
c.*243A>C (n.*243A>C)
c.2003A>C (p.Gln668Pro)
c.1478A>C (p.Gln493Pro)
c.1721A>C (p.Gln574Pro)
c.*253A>C (n.*253A>C)
c.1964A>C (p.Gln655Pro)
c.2012A>C (p.Gln671Pro)
c.2009A>C (p.Gln670Pro)
c.1976A>C (p.Gln659Pro)
 dbSNP
3g.189894474A>GCA355751683TP63c.2015A>G (p.Gln672Arg)
c.1733A>G (p.Gln578Arg)
c.*243A>G (n.*243A>G)
c.2003A>G (p.Gln668Arg)
c.1478A>G (p.Gln493Arg)
c.1721A>G (p.Gln574Arg)
c.*253A>G (n.*253A>G)
c.1964A>G (p.Gln655Arg)
c.2012A>G (p.Gln671Arg)
c.2009A>G (p.Gln670Arg)
c.1976A>G (p.Gln659Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.189894474A>TCA355751684TP63c.2015A>T (p.Gln672Leu)
c.1733A>T (p.Gln578Leu)
c.*243A>T (n.*243A>T)
c.2003A>T (p.Gln668Leu)
c.1478A>T (p.Gln493Leu)
c.1721A>T (p.Gln574Leu)
c.*253A>T (n.*253A>T)
c.1964A>T (p.Gln655Leu)
c.2012A>T (p.Gln671Leu)
c.2009A>T (p.Gln670Leu)
c.1976A>T (p.Gln659Leu)
3g.189894475A>CCA355751685TP63c.2016A>C (p.Gln672His)
c.1734A>C (p.Gln578His)
c.*244A>C (n.*244A>C)
c.2004A>C (p.Gln668His)
c.1479A>C (p.Gln493His)
c.1722A>C (p.Gln574His)
c.*254A>C (n.*254A>C)
c.1965A>C (p.Gln655His)
c.2013A>C (p.Gln671His)
c.2010A>C (p.Gln670His)
c.1977A>C (p.Gln659His)
3g.189894475A>GCA437637356TP63c.2016A>G (p.Gln672=)
c.1734A>G (p.Gln578=)
c.*244A>G (n.*244A>G)
c.2004A>G (p.Gln668=)
c.1479A>G (p.Gln493=)
c.1722A>G (p.Gln574=)
c.*254A>G (n.*254A>G)
c.1965A>G (p.Gln655=)
c.2013A>G (p.Gln671=)
c.2010A>G (p.Gln670=)
c.1977A>G (p.Gln659=)
3g.189894475A>TCA355751686TP63c.2016A>T (p.Gln672His)
c.1734A>T (p.Gln578His)
c.*244A>T (n.*244A>T)
c.2004A>T (p.Gln668His)
c.1479A>T (p.Gln493His)
c.1722A>T (p.Gln574His)
c.*254A>T (n.*254A>T)
c.1965A>T (p.Gln655His)
c.2013A>T (p.Gln671His)
c.2010A>T (p.Gln670His)
c.1977A>T (p.Gln659His)
 gnomAD v4
3g.189894476C>ACA355751687TP63c.2017C>A (p.Gln673Lys)
c.1735C>A (p.Gln579Lys)
c.*245C>A (n.*245C>A)
c.2005C>A (p.Gln669Lys)
c.1480C>A (p.Gln494Lys)
c.1723C>A (p.Gln575Lys)
c.*255C>A (n.*255C>A)
c.1966C>A (p.Gln656Lys)
c.2014C>A (p.Gln672Lys)
c.2011C>A (p.Gln671Lys)
c.1978C>A (p.Gln660Lys)
3g.189894476C>GCA355751688TP63c.2017C>G (p.Gln673Glu)
c.1735C>G (p.Gln579Glu)
c.*245C>G (n.*245C>G)
c.2005C>G (p.Gln669Glu)
c.1480C>G (p.Gln494Glu)
c.1723C>G (p.Gln575Glu)
c.*255C>G (n.*255C>G)
c.1966C>G (p.Gln656Glu)
c.2014C>G (p.Gln672Glu)
c.2011C>G (p.Gln671Glu)
c.1978C>G (p.Gln660Glu)
3g.189894476C>TCA355751689TP63c.2017C>T (p.Gln673Ter)
c.1735C>T (p.Gln579Ter)
c.*245C>T (n.*245C>T)
c.2005C>T (p.Gln669Ter)
c.1480C>T (p.Gln494Ter)
c.1723C>T (p.Gln575Ter)
c.*255C>T (n.*255C>T)
c.1966C>T (p.Gln656Ter)
c.2014C>T (p.Gln672Ter)
c.2011C>T (p.Gln671Ter)
c.1978C>T (p.Gln660Ter)
 ClinVar
3g.189894477A>CCA355751690TP63c.2018A>C (p.Gln673Pro)
c.1736A>C (p.Gln579Pro)
c.*246A>C (n.*246A>C)
c.2006A>C (p.Gln669Pro)
c.1481A>C (p.Gln494Pro)
c.1724A>C (p.Gln575Pro)
c.*256A>C (n.*256A>C)
c.1967A>C (p.Gln656Pro)
c.2015A>C (p.Gln672Pro)
c.2012A>C (p.Gln671Pro)
c.1979A>C (p.Gln660Pro)
3g.189894477A>GCA355751691TP63c.2018A>G (p.Gln673Arg)
c.1736A>G (p.Gln579Arg)
c.*246A>G (n.*246A>G)
c.2006A>G (p.Gln669Arg)
c.1481A>G (p.Gln494Arg)
c.1724A>G (p.Gln575Arg)
c.*256A>G (n.*256A>G)
c.1967A>G (p.Gln656Arg)
c.2015A>G (p.Gln672Arg)
c.2012A>G (p.Gln671Arg)
c.1979A>G (p.Gln660Arg)
 ClinVar gnomAD v4
3g.189894477A>TCA355751692TP63c.2018A>T (p.Gln673Leu)
c.1736A>T (p.Gln579Leu)
c.*246A>T (n.*246A>T)
c.2006A>T (p.Gln669Leu)
c.1481A>T (p.Gln494Leu)
c.1724A>T (p.Gln575Leu)
c.*256A>T (n.*256A>T)
c.1967A>T (p.Gln656Leu)
c.2015A>T (p.Gln672Leu)
c.2012A>T (p.Gln671Leu)
c.1979A>T (p.Gln660Leu)
3g.189894478G>ACA437637360TP63c.2019G>A (p.Gln673=)
c.1737G>A (p.Gln579=)
c.*247G>A (n.*247G>A)
c.2007G>A (p.Gln669=)
c.1482G>A (p.Gln494=)
c.1725G>A (p.Gln575=)
c.*257G>A (n.*257G>A)
c.1968G>A (p.Gln656=)
c.2016G>A (p.Gln672=)
c.2013G>A (p.Gln671=)
c.1980G>A (p.Gln660=)
 dbSNP gnomAD v4
3g.189894478G>CCA355751695TP63c.2019G>C (p.Gln673His)
c.1737G>C (p.Gln579His)
c.*247G>C (n.*247G>C)
c.2007G>C (p.Gln669His)
c.1482G>C (p.Gln494His)
c.1725G>C (p.Gln575His)
c.*257G>C (n.*257G>C)
c.1968G>C (p.Gln656His)
c.2016G>C (p.Gln672His)
c.2013G>C (p.Gln671His)
c.1980G>C (p.Gln660His)
3g.189894478G=CA1428535307TP63c.2019G= (p.Gln673=)
c.1737G= (p.Gln579=)
c.*247G= (n.*247G=)
c.2007G= (p.Gln669=)
c.1482G= (p.Gln494=)
c.1725G= (p.Gln575=)
c.*257G= (n.*257G=)
c.1968G= (p.Gln656=)
c.2016G= (p.Gln672=)
c.2013G= (p.Gln671=)
c.1980G= (p.Gln660=)
3g.189894478G>TCA355751694TP63c.2019G>T (p.Gln673His)
c.1737G>T (p.Gln579His)
c.*247G>T (n.*247G>T)
c.2007G>T (p.Gln669His)
c.1482G>T (p.Gln494His)
c.1725G>T (p.Gln575His)
c.*257G>T (n.*257G>T)
c.1968G>T (p.Gln656His)
c.2016G>T (p.Gln672His)
c.2013G>T (p.Gln671His)
c.1980G>T (p.Gln660His)
3g.189894479C>ACA355751696TP63c.2020C>A (p.Arg674Ser)
c.1738C>A (p.Arg580Ser)
c.*248C>A (n.*248C>A)
c.2008C>A (p.Arg670Ser)
c.1483C>A (p.Arg495Ser)
c.1726C>A (p.Arg576Ser)
c.*258C>A (n.*258C>A)
c.1969C>A (p.Arg657Ser)
c.2017C>A (p.Arg673Ser)
c.2014C>A (p.Arg672Ser)
c.1981C>A (p.Arg661Ser)
3g.189894479C=CA1428535308TP63c.2020C= (p.Arg674=)
c.1738C= (p.Arg580=)
c.*248C= (n.*248C=)
c.2008C= (p.Arg670=)
c.1483C= (p.Arg495=)
c.1726C= (p.Arg576=)
c.*258C= (n.*258C=)
c.1969C= (p.Arg657=)
c.2017C= (p.Arg673=)
c.2014C= (p.Arg672=)
c.1981C= (p.Arg661=)
3g.189894479C>GCA355751697TP63c.2020C>G (p.Arg674Gly)
c.1738C>G (p.Arg580Gly)
c.*248C>G (n.*248C>G)
c.2008C>G (p.Arg670Gly)
c.1483C>G (p.Arg495Gly)
c.1726C>G (p.Arg576Gly)
c.*258C>G (n.*258C>G)
c.1969C>G (p.Arg657Gly)
c.2017C>G (p.Arg673Gly)
c.2014C>G (p.Arg672Gly)
c.1981C>G (p.Arg661Gly)
3g.189894479C>TCA89713392TP63c.2020C>T (p.Arg674Cys)
c.1738C>T (p.Arg580Cys)
c.*248C>T (n.*248C>T)
c.2008C>T (p.Arg670Cys)
c.1483C>T (p.Arg495Cys)
c.1726C>T (p.Arg576Cys)
c.*258C>T (n.*258C>T)
c.1969C>T (p.Arg657Cys)
c.2017C>T (p.Arg673Cys)
c.2014C>T (p.Arg672Cys)
c.1981C>T (p.Arg661Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189894480G>ACA2752613TP63c.2021G>A (p.Arg674His)
c.1739G>A (p.Arg580His)
c.*249G>A (n.*249G>A)
c.2009G>A (p.Arg670His)
c.1484G>A (p.Arg495His)
c.1727G>A (p.Arg576His)
c.*259G>A (n.*259G>A)
c.1970G>A (p.Arg657His)
c.2018G>A (p.Arg673His)
c.2015G>A (p.Arg672His)
c.1982G>A (p.Arg661His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189894480G>CCA2752614TP63c.2021G>C (p.Arg674Pro)
c.1739G>C (p.Arg580Pro)
c.*249G>C (n.*249G>C)
c.2009G>C (p.Arg670Pro)
c.1484G>C (p.Arg495Pro)
c.1727G>C (p.Arg576Pro)
c.*259G>C (n.*259G>C)
c.1970G>C (p.Arg657Pro)
c.2018G>C (p.Arg673Pro)
c.2015G>C (p.Arg672Pro)
c.1982G>C (p.Arg661Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894480G=CA1428535309TP63c.2021G= (p.Arg674=)
c.1739G= (p.Arg580=)
c.*249G= (n.*249G=)
c.2009G= (p.Arg670=)
c.1484G= (p.Arg495=)
c.1727G= (p.Arg576=)
c.*259G= (n.*259G=)
c.1970G= (p.Arg657=)
c.2018G= (p.Arg673=)
c.2015G= (p.Arg672=)
c.1982G= (p.Arg661=)
3g.189894480G>TCA2752615TP63c.2021G>T (p.Arg674Leu)
c.1739G>T (p.Arg580Leu)
c.*249G>T (n.*249G>T)
c.2009G>T (p.Arg670Leu)
c.1484G>T (p.Arg495Leu)
c.1727G>T (p.Arg576Leu)
c.*259G>T (n.*259G>T)
c.1970G>T (p.Arg657Leu)
c.2018G>T (p.Arg673Leu)
c.2015G>T (p.Arg672Leu)
c.1982G>T (p.Arg661Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189894481C>ACA437637365TP63c.2022C>A (p.Arg674=)
c.1740C>A (p.Arg580=)
c.*250C>A (n.*250C>A)
c.2010C>A (p.Arg670=)
c.1485C>A (p.Arg495=)
c.1728C>A (p.Arg576=)
c.*260C>A (n.*260C>A)
c.1971C>A (p.Arg657=)
c.2019C>A (p.Arg673=)
c.2016C>A (p.Arg672=)
c.1983C>A (p.Arg661=)
3g.189894481C=CA1428535310TP63c.2022C= (p.Arg674=)
c.1740C= (p.Arg580=)
c.*250C= (n.*250C=)
c.2010C= (p.Arg670=)
c.1485C= (p.Arg495=)
c.1728C= (p.Arg576=)
c.*260C= (n.*260C=)
c.1971C= (p.Arg657=)
c.2019C= (p.Arg673=)
c.2016C= (p.Arg672=)
c.1983C= (p.Arg661=)
3g.189894481C>GCA437637366TP63c.2022C>G (p.Arg674=)
c.1740C>G (p.Arg580=)
c.*250C>G (n.*250C>G)
c.2010C>G (p.Arg670=)
c.1485C>G (p.Arg495=)
c.1728C>G (p.Arg576=)
c.*260C>G (n.*260C>G)
c.1971C>G (p.Arg657=)
c.2019C>G (p.Arg673=)
c.2016C>G (p.Arg672=)
c.1983C>G (p.Arg661=)
3g.189894481C>TCA437637367TP63c.2022C>T (p.Arg674=)
c.1740C>T (p.Arg580=)
c.*250C>T (n.*250C>T)
c.2010C>T (p.Arg670=)
c.1485C>T (p.Arg495=)
c.1728C>T (p.Arg576=)
c.*260C>T (n.*260C>T)
c.1971C>T (p.Arg657=)
c.2019C>T (p.Arg673=)
c.2016C>T (p.Arg672=)
c.1983C>T (p.Arg661=)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched