Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.162435214A=CA1303221175KCNH7c.1938T= (p.Cys646=)
c.1917T= (p.Cys639=)
c.1638T= (p.Cys546=)
c.1611T= (p.Cys537=)
c.1962T= (p.Cys654=)
2g.162435214A>CCA349220669KCNH7c.1938T>G (p.Cys646Trp)
c.1917T>G (p.Cys639Trp)
c.1638T>G (p.Cys546Trp)
c.1611T>G (p.Cys537Trp)
c.1962T>G (p.Cys654Trp)
dbSNP
2g.162435214A>GCA429731564KCNH7c.1938T>C (p.Cys646=)
c.1917T>C (p.Cys639=)
c.1638T>C (p.Cys546=)
c.1611T>C (p.Cys537=)
c.1962T>C (p.Cys654=)
dbSNP
2g.162435214A>TCA349220670KCNH7c.1938T>A (p.Cys646Ter)
c.1917T>A (p.Cys639Ter)
c.1638T>A (p.Cys546Ter)
c.1611T>A (p.Cys537Ter)
c.1962T>A (p.Cys654Ter)
2g.162435215C>ACA349220671KCNH7c.1937G>T (p.Cys646Phe)
c.1916G>T (p.Cys639Phe)
c.1637G>T (p.Cys546Phe)
c.1610G>T (p.Cys537Phe)
c.1961G>T (p.Cys654Phe)
2g.162435215C=CA1303221178KCNH7c.1937G= (p.Cys646=)
c.1916G= (p.Cys639=)
c.1637G= (p.Cys546=)
c.1610G= (p.Cys537=)
c.1961G= (p.Cys654=)
2g.162435215C>GCA349220672KCNH7c.1937G>C (p.Cys646Ser)
c.1916G>C (p.Cys639Ser)
c.1637G>C (p.Cys546Ser)
c.1610G>C (p.Cys537Ser)
c.1961G>C (p.Cys654Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.162435215C>TCA349220673KCNH7c.1937G>A (p.Cys646Tyr)
c.1916G>A (p.Cys639Tyr)
c.1637G>A (p.Cys546Tyr)
c.1610G>A (p.Cys537Tyr)
c.1961G>A (p.Cys654Tyr)
gnomAD v4
2g.162435216A>CCA349220675KCNH7c.1936T>G (p.Cys646Gly)
c.1915T>G (p.Cys639Gly)
c.1636T>G (p.Cys546Gly)
c.1609T>G (p.Cys537Gly)
c.1960T>G (p.Cys654Gly)
2g.162435216A>GCA349220676KCNH7c.1936T>C (p.Cys646Arg)
c.1915T>C (p.Cys639Arg)
c.1636T>C (p.Cys546Arg)
c.1609T>C (p.Cys537Arg)
c.1960T>C (p.Cys654Arg)
2g.162435216A>TCA349220674KCNH7c.1936T>A (p.Cys646Ser)
c.1915T>A (p.Cys639Ser)
c.1636T>A (p.Cys546Ser)
c.1609T>A (p.Cys537Ser)
c.1960T>A (p.Cys654Ser)
2g.162435217A=CA1303221182KCNH7c.1935T= (p.Ile645=)
c.1914T= (p.Ile638=)
c.1635T= (p.Ile545=)
c.1608T= (p.Ile536=)
c.1959T= (p.Ile653=)
2g.162435217A>CCA349220677KCNH7c.1935T>G (p.Ile645Met)
c.1914T>G (p.Ile638Met)
c.1635T>G (p.Ile545Met)
c.1608T>G (p.Ile536Met)
c.1959T>G (p.Ile653Met)
2g.162435217A>GCA429731565KCNH7c.1935T>C (p.Ile645=)
c.1914T>C (p.Ile638=)
c.1635T>C (p.Ile545=)
c.1608T>C (p.Ile536=)
c.1959T>C (p.Ile653=)
2g.162435217A>TCA429731566KCNH7c.1935T>A (p.Ile645=)
c.1914T>A (p.Ile638=)
c.1635T>A (p.Ile545=)
c.1608T>A (p.Ile536=)
c.1959T>A (p.Ile653=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435218A>CCA349220678KCNH7c.1934T>G (p.Ile645Ser)
c.1913T>G (p.Ile638Ser)
c.1634T>G (p.Ile545Ser)
c.1607T>G (p.Ile536Ser)
c.1958T>G (p.Ile653Ser)
2g.162435218A>GCA349220680KCNH7c.1934T>C (p.Ile645Thr)
c.1913T>C (p.Ile638Thr)
c.1634T>C (p.Ile545Thr)
c.1607T>C (p.Ile536Thr)
c.1958T>C (p.Ile653Thr)
2g.162435218A>TCA349220679KCNH7c.1934T>A (p.Ile645Asn)
c.1913T>A (p.Ile638Asn)
c.1634T>A (p.Ile545Asn)
c.1607T>A (p.Ile536Asn)
c.1958T>A (p.Ile653Asn)
2g.162435219T>ACA349220681KCNH7c.1933A>T (p.Ile645Phe)
c.1912A>T (p.Ile638Phe)
c.1633A>T (p.Ile545Phe)
c.1606A>T (p.Ile536Phe)
c.1957A>T (p.Ile653Phe)
2g.162435219T>CCA349220683KCNH7c.1933A>G (p.Ile645Val)
c.1912A>G (p.Ile638Val)
c.1633A>G (p.Ile545Val)
c.1606A>G (p.Ile536Val)
c.1957A>G (p.Ile653Val)
gnomAD v4
2g.162435219T>GCA349220682KCNH7c.1933A>C (p.Ile645Leu)
c.1912A>C (p.Ile638Leu)
c.1633A>C (p.Ile545Leu)
c.1606A>C (p.Ile536Leu)
c.1957A>C (p.Ile653Leu)
2g.162435220T>ACA429731567KCNH7c.1932A>T (p.Ser644=)
c.1911A>T (p.Ser637=)
c.1632A>T (p.Ser544=)
c.1605A>T (p.Ser535=)
c.1956A>T (p.Ser652=)
2g.162435220T>CCA429731568KCNH7c.1932A>G (p.Ser644=)
c.1911A>G (p.Ser637=)
c.1632A>G (p.Ser544=)
c.1605A>G (p.Ser535=)
c.1956A>G (p.Ser652=)
2g.162435220T>GCA429731569KCNH7c.1932A>C (p.Ser644=)
c.1911A>C (p.Ser637=)
c.1632A>C (p.Ser544=)
c.1605A>C (p.Ser535=)
c.1956A>C (p.Ser652=)
2g.162435221G>ACA349220684KCNH7c.1931C>T (p.Ser644Leu)
c.1910C>T (p.Ser637Leu)
c.1631C>T (p.Ser544Leu)
c.1604C>T (p.Ser535Leu)
c.1955C>T (p.Ser652Leu)
2g.162435221G>CCA349220685KCNH7c.1931C>G (p.Ser644Ter)
c.1910C>G (p.Ser637Ter)
c.1631C>G (p.Ser544Ter)
c.1604C>G (p.Ser535Ter)
c.1955C>G (p.Ser652Ter)
2g.162435221G>TCA349220686KCNH7c.1931C>A (p.Ser644Ter)
c.1910C>A (p.Ser637Ter)
c.1631C>A (p.Ser544Ter)
c.1604C>A (p.Ser535Ter)
c.1955C>A (p.Ser652Ter)
2g.162435222A>CCA349220687KCNH7c.1930T>G (p.Ser644Ala)
c.1909T>G (p.Ser637Ala)
c.1630T>G (p.Ser544Ala)
c.1603T>G (p.Ser535Ala)
c.1954T>G (p.Ser652Ala)
2g.162435222A>GCA349220688KCNH7c.1930T>C (p.Ser644Pro)
c.1909T>C (p.Ser637Pro)
c.1630T>C (p.Ser544Pro)
c.1603T>C (p.Ser535Pro)
c.1954T>C (p.Ser652Pro)
2g.162435222A>TCA349220689KCNH7c.1930T>A (p.Ser644Thr)
c.1909T>A (p.Ser637Thr)
c.1630T>A (p.Ser544Thr)
c.1603T>A (p.Ser535Thr)
c.1954T>A (p.Ser652Thr)
2g.162435223A>CCA349220690KCNH7c.1929T>G (p.Phe643Leu)
c.1908T>G (p.Phe636Leu)
c.1629T>G (p.Phe543Leu)
c.1602T>G (p.Phe534Leu)
c.1953T>G (p.Phe651Leu)
2g.162435223A>GCA429731570KCNH7c.1929T>C (p.Phe643=)
c.1908T>C (p.Phe636=)
c.1629T>C (p.Phe543=)
c.1602T>C (p.Phe534=)
c.1953T>C (p.Phe651=)
2g.162435223A>TCA349220691KCNH7c.1929T>A (p.Phe643Leu)
c.1908T>A (p.Phe636Leu)
c.1629T>A (p.Phe543Leu)
c.1602T>A (p.Phe534Leu)
c.1953T>A (p.Phe651Leu)
2g.162435224A>CCA349220692KCNH7c.1928T>G (p.Phe643Cys)
c.1907T>G (p.Phe636Cys)
c.1628T>G (p.Phe543Cys)
c.1601T>G (p.Phe534Cys)
c.1952T>G (p.Phe651Cys)
2g.162435224A>GCA349220693KCNH7c.1928T>C (p.Phe643Ser)
c.1907T>C (p.Phe636Ser)
c.1628T>C (p.Phe543Ser)
c.1601T>C (p.Phe534Ser)
c.1952T>C (p.Phe651Ser)
2g.162435224A>TCA349220694KCNH7c.1928T>A (p.Phe643Tyr)
c.1907T>A (p.Phe636Tyr)
c.1628T>A (p.Phe543Tyr)
c.1601T>A (p.Phe534Tyr)
c.1952T>A (p.Phe651Tyr)
2g.162435225A=CA1303221184KCNH7c.1927T= (p.Phe643=)
c.1906T= (p.Phe636=)
c.1627T= (p.Phe543=)
c.1600T= (p.Phe534=)
c.1951T= (p.Phe651=)
2g.162435225A>CCA349220695KCNH7c.1927T>G (p.Phe643Val)
c.1906T>G (p.Phe636Val)
c.1627T>G (p.Phe543Val)
c.1600T>G (p.Phe534Val)
c.1951T>G (p.Phe651Val)
2g.162435225A>GCA349220697KCNH7c.1927T>C (p.Phe643Leu)
c.1906T>C (p.Phe636Leu)
c.1627T>C (p.Phe543Leu)
c.1600T>C (p.Phe534Leu)
c.1951T>C (p.Phe651Leu)
dbSNP gnomAD v2 gnomAD v4
2g.162435225A>TCA349220696KCNH7c.1927T>A (p.Phe643Ile)
c.1906T>A (p.Phe636Ile)
c.1627T>A (p.Phe543Ile)
c.1600T>A (p.Phe534Ile)
c.1951T>A (p.Phe651Ile)
2g.162435226G>ACA429731571KCNH7c.1926C>T (p.Ile642=)
c.1905C>T (p.Ile635=)
c.1626C>T (p.Ile542=)
c.1599C>T (p.Ile533=)
c.1950C>T (p.Ile650=)
dbSNP COSMIC COSMIC
2g.162435226G>CCA349220698KCNH7c.1926C>G (p.Ile642Met)
c.1905C>G (p.Ile635Met)
c.1626C>G (p.Ile542Met)
c.1599C>G (p.Ile533Met)
c.1950C>G (p.Ile650Met)
2g.162435226G=CA1303221186KCNH7c.1926C= (p.Ile642=)
c.1905C= (p.Ile635=)
c.1626C= (p.Ile542=)
c.1599C= (p.Ile533=)
c.1950C= (p.Ile650=)
2g.162435226G>TCA429731572KCNH7c.1926C>A (p.Ile642=)
c.1905C>A (p.Ile635=)
c.1626C>A (p.Ile542=)
c.1599C>A (p.Ile533=)
c.1950C>A (p.Ile650=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435227A>CCA349220699KCNH7c.1925T>G (p.Ile642Ser)
c.1904T>G (p.Ile635Ser)
c.1625T>G (p.Ile542Ser)
c.1598T>G (p.Ile533Ser)
c.1949T>G (p.Ile650Ser)
2g.162435227A>GCA349220700KCNH7c.1925T>C (p.Ile642Thr)
c.1904T>C (p.Ile635Thr)
c.1625T>C (p.Ile542Thr)
c.1598T>C (p.Ile533Thr)
c.1949T>C (p.Ile650Thr)
2g.162435227A>TCA349220701KCNH7c.1925T>A (p.Ile642Asn)
c.1904T>A (p.Ile635Asn)
c.1625T>A (p.Ile542Asn)
c.1598T>A (p.Ile533Asn)
c.1949T>A (p.Ile650Asn)
2g.162435228T>ACA349220702KCNH7c.1924A>T (p.Ile642Phe)
c.1903A>T (p.Ile635Phe)
c.1624A>T (p.Ile542Phe)
c.1597A>T (p.Ile533Phe)
c.1948A>T (p.Ile650Phe)
2g.162435228T>CCA349220703KCNH7c.1924A>G (p.Ile642Val)
c.1903A>G (p.Ile635Val)
c.1624A>G (p.Ile542Val)
c.1597A>G (p.Ile533Val)
c.1948A>G (p.Ile650Val)
2g.162435228T>GCA349220704KCNH7c.1924A>C (p.Ile642Leu)
c.1903A>C (p.Ile635Leu)
c.1624A>C (p.Ile542Leu)
c.1597A>C (p.Ile533Leu)
c.1948A>C (p.Ile650Leu)
2g.162435229T>ACA349220705KCNH7c.1923A>T (p.Lys641Asn)
c.1902A>T (p.Lys634Asn)
c.1623A>T (p.Lys541Asn)
c.1596A>T (p.Lys532Asn)
c.1947A>T (p.Lys649Asn)
2g.162435229T>CCA429731573KCNH7c.1923A>G (p.Lys641=)
c.1902A>G (p.Lys634=)
c.1623A>G (p.Lys541=)
c.1596A>G (p.Lys532=)
c.1947A>G (p.Lys649=)
dbSNP gnomAD v4
2g.162435229T>GCA349220706KCNH7c.1923A>C (p.Lys641Asn)
c.1902A>C (p.Lys634Asn)
c.1623A>C (p.Lys541Asn)
c.1596A>C (p.Lys532Asn)
c.1947A>C (p.Lys649Asn)
2g.162435229T=CA1303221192KCNH7c.1923A= (p.Lys641=)
c.1902A= (p.Lys634=)
c.1623A= (p.Lys541=)
c.1596A= (p.Lys532=)
c.1947A= (p.Lys649=)
2g.162435230T>ACA349220708KCNH7c.1922A>T (p.Lys641Ile)
c.1901A>T (p.Lys634Ile)
c.1622A>T (p.Lys541Ile)
c.1595A>T (p.Lys532Ile)
c.1946A>T (p.Lys649Ile)
2g.162435230T>CCA349220709KCNH7c.1922A>G (p.Lys641Arg)
c.1901A>G (p.Lys634Arg)
c.1622A>G (p.Lys541Arg)
c.1595A>G (p.Lys532Arg)
c.1946A>G (p.Lys649Arg)
2g.162435230T>GCA349220707KCNH7c.1922A>C (p.Lys641Thr)
c.1901A>C (p.Lys634Thr)
c.1622A>C (p.Lys541Thr)
c.1595A>C (p.Lys532Thr)
c.1946A>C (p.Lys649Thr)
2g.162435231T>ACA349220710KCNH7c.1921A>T (p.Lys641Ter)
c.1900A>T (p.Lys634Ter)
c.1621A>T (p.Lys541Ter)
c.1594A>T (p.Lys532Ter)
c.1945A>T (p.Lys649Ter)
2g.162435231T>CCA349220711KCNH7c.1921A>G (p.Lys641Glu)
c.1900A>G (p.Lys634Glu)
c.1621A>G (p.Lys541Glu)
c.1594A>G (p.Lys532Glu)
c.1945A>G (p.Lys649Glu)
2g.162435231T>GCA349220712KCNH7c.1921A>C (p.Lys641Gln)
c.1900A>C (p.Lys634Gln)
c.1621A>C (p.Lys541Gln)
c.1594A>C (p.Lys532Gln)
c.1945A>C (p.Lys649Gln)
2g.162435232C>ACA349220713KCNH7c.1920G>T (p.Glu640Asp)
c.1899G>T (p.Glu633Asp)
c.1620G>T (p.Glu540Asp)
c.1593G>T (p.Glu531Asp)
c.1944G>T (p.Glu648Asp)
2g.162435232C>GCA349220714KCNH7c.1920G>C (p.Glu640Asp)
c.1899G>C (p.Glu633Asp)
c.1620G>C (p.Glu540Asp)
c.1593G>C (p.Glu531Asp)
c.1944G>C (p.Glu648Asp)
2g.162435232C>TCA429731574KCNH7c.1920G>A (p.Glu640=)
c.1899G>A (p.Glu633=)
c.1620G>A (p.Glu540=)
c.1593G>A (p.Glu531=)
c.1944G>A (p.Glu648=)
2g.162435233T>ACA349220715KCNH7c.1919A>T (p.Glu640Val)
c.1898A>T (p.Glu633Val)
c.1619A>T (p.Glu540Val)
c.1592A>T (p.Glu531Val)
c.1943A>T (p.Glu648Val)
2g.162435233T>CCA349220716KCNH7c.1919A>G (p.Glu640Gly)
c.1898A>G (p.Glu633Gly)
c.1619A>G (p.Glu540Gly)
c.1592A>G (p.Glu531Gly)
c.1943A>G (p.Glu648Gly)
2g.162435233T>GCA349220717KCNH7c.1919A>C (p.Glu640Ala)
c.1898A>C (p.Glu633Ala)
c.1619A>C (p.Glu540Ala)
c.1592A>C (p.Glu531Ala)
c.1943A>C (p.Glu648Ala)
2g.162435234C>ACA349220718KCNH7c.1918G>T (p.Glu640Ter)
c.1897G>T (p.Glu633Ter)
c.1618G>T (p.Glu540Ter)
c.1591G>T (p.Glu531Ter)
c.1942G>T (p.Glu648Ter)
2g.162435234C>GCA349220719KCNH7c.1918G>C (p.Glu640Gln)
c.1897G>C (p.Glu633Gln)
c.1618G>C (p.Glu540Gln)
c.1591G>C (p.Glu531Gln)
c.1942G>C (p.Glu648Gln)
2g.162435234C>TCA349220720KCNH7c.1918G>A (p.Glu640Lys)
c.1897G>A (p.Glu633Lys)
c.1618G>A (p.Glu540Lys)
c.1591G>A (p.Glu531Lys)
c.1942G>A (p.Glu648Lys)
COSMIC COSMIC
2g.162435235C>ACA429731575KCNH7c.1917G>T (p.Ser639=)
c.1896G>T (p.Ser632=)
c.1617G>T (p.Ser539=)
c.1590G>T (p.Ser530=)
c.1941G>T (p.Ser647=)
2g.162435235C=CA1303221194KCNH7c.1917G= (p.Ser639=)
c.1896G= (p.Ser632=)
c.1617G= (p.Ser539=)
c.1590G= (p.Ser530=)
c.1941G= (p.Ser647=)
2g.162435235C>GCA429731576KCNH7c.1917G>C (p.Ser639=)
c.1896G>C (p.Ser632=)
c.1617G>C (p.Ser539=)
c.1590G>C (p.Ser530=)
c.1941G>C (p.Ser647=)
2g.162435235C>TCA1935611KCNH7c.1917G>A (p.Ser639=)
c.1896G>A (p.Ser632=)
c.1617G>A (p.Ser539=)
c.1590G>A (p.Ser530=)
c.1941G>A (p.Ser647=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435236G>ACA1935612KCNH7c.1916C>T (p.Ser639Leu)
c.1895C>T (p.Ser632Leu)
c.1616C>T (p.Ser539Leu)
c.1589C>T (p.Ser530Leu)
c.1940C>T (p.Ser647Leu)
dbSNP ExAC gnomAD v4 COSMIC COSMIC
2g.162435236G>CCA349220721KCNH7c.1916C>G (p.Ser639Trp)
c.1895C>G (p.Ser632Trp)
c.1616C>G (p.Ser539Trp)
c.1589C>G (p.Ser530Trp)
c.1940C>G (p.Ser647Trp)
dbSNP COSMIC COSMIC
2g.162435236G=CA1303221199KCNH7c.1916C= (p.Ser639=)
c.1895C= (p.Ser632=)
c.1616C= (p.Ser539=)
c.1589C= (p.Ser530=)
c.1940C= (p.Ser647=)
2g.162435236G>TCA349220722KCNH7c.1916C>A (p.Ser639Ter)
c.1895C>A (p.Ser632Ter)
c.1616C>A (p.Ser539Ter)
c.1589C>A (p.Ser530Ter)
c.1940C>A (p.Ser647Ter)
2g.162435237A>CCA349220723KCNH7c.1915T>G (p.Ser639Ala)
c.1894T>G (p.Ser632Ala)
c.1615T>G (p.Ser539Ala)
c.1588T>G (p.Ser530Ala)
c.1939T>G (p.Ser647Ala)
2g.162435237A>GCA349220724KCNH7c.1915T>C (p.Ser639Pro)
c.1894T>C (p.Ser632Pro)
c.1615T>C (p.Ser539Pro)
c.1588T>C (p.Ser530Pro)
c.1939T>C (p.Ser647Pro)
2g.162435237A>TCA349220725KCNH7c.1915T>A (p.Ser639Thr)
c.1894T>A (p.Ser632Thr)
c.1615T>A (p.Ser539Thr)
c.1588T>A (p.Ser530Thr)
c.1939T>A (p.Ser647Thr)
2g.162435238A=CA1303221205KCNH7c.1914T= (p.Asn638=)
c.1893T= (p.Asn631=)
c.1614T= (p.Asn538=)
c.1587T= (p.Asn529=)
c.1938T= (p.Asn646=)
2g.162435238A>CCA349220726KCNH7c.1914T>G (p.Asn638Lys)
c.1893T>G (p.Asn631Lys)
c.1614T>G (p.Asn538Lys)
c.1587T>G (p.Asn529Lys)
c.1938T>G (p.Asn646Lys)
2g.162435238A>GCA1935613KCNH7c.1914T>C (p.Asn638=)
c.1893T>C (p.Asn631=)
c.1614T>C (p.Asn538=)
c.1587T>C (p.Asn529=)
c.1938T>C (p.Asn646=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435238A>TCA349220727KCNH7c.1914T>A (p.Asn638Lys)
c.1893T>A (p.Asn631Lys)
c.1614T>A (p.Asn538Lys)
c.1587T>A (p.Asn529Lys)
c.1938T>A (p.Asn646Lys)
2g.162435239T>ACA349220728KCNH7c.1913A>T (p.Asn638Ile)
c.1892A>T (p.Asn631Ile)
c.1613A>T (p.Asn538Ile)
c.1586A>T (p.Asn529Ile)
c.1937A>T (p.Asn646Ile)
gnomAD v4
2g.162435239T>CCA349220729KCNH7c.1913A>G (p.Asn638Ser)
c.1892A>G (p.Asn631Ser)
c.1613A>G (p.Asn538Ser)
c.1586A>G (p.Asn529Ser)
c.1937A>G (p.Asn646Ser)
2g.162435239T>GCA349220730KCNH7c.1913A>C (p.Asn638Thr)
c.1892A>C (p.Asn631Thr)
c.1613A>C (p.Asn538Thr)
c.1586A>C (p.Asn529Thr)
c.1937A>C (p.Asn646Thr)
2g.162435240T>ACA349220731KCNH7c.1912A>T (p.Asn638Tyr)
c.1891A>T (p.Asn631Tyr)
c.1612A>T (p.Asn538Tyr)
c.1585A>T (p.Asn529Tyr)
c.1936A>T (p.Asn646Tyr)
2g.162435240T>CCA349220732KCNH7c.1912A>G (p.Asn638Asp)
c.1891A>G (p.Asn631Asp)
c.1612A>G (p.Asn538Asp)
c.1585A>G (p.Asn529Asp)
c.1936A>G (p.Asn646Asp)
2g.162435240T>GCA349220733KCNH7c.1912A>C (p.Asn638His)
c.1891A>C (p.Asn631His)
c.1612A>C (p.Asn538His)
c.1585A>C (p.Asn529His)
c.1936A>C (p.Asn646His)
2g.162435241C>ACA429731582KCNH7c.1911G>T (p.Thr637=)
c.1890G>T (p.Thr630=)
c.1611G>T (p.Thr537=)
c.1584G>T (p.Thr528=)
c.1935G>T (p.Thr645=)
2g.162435241C=CA1303221209KCNH7c.1911G= (p.Thr637=)
c.1890G= (p.Thr630=)
c.1611G= (p.Thr537=)
c.1584G= (p.Thr528=)
c.1935G= (p.Thr645=)
2g.162435241C>GCA429731585KCNH7c.1911G>C (p.Thr637=)
c.1890G>C (p.Thr630=)
c.1611G>C (p.Thr537=)
c.1584G>C (p.Thr528=)
c.1935G>C (p.Thr645=)
2g.162435241C>TCA1935614KCNH7c.1911G>A (p.Thr637=)
c.1890G>A (p.Thr630=)
c.1611G>A (p.Thr537=)
c.1584G>A (p.Thr528=)
c.1935G>A (p.Thr645=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.162435242G>ACA349220735KCNH7c.1910C>T (p.Thr637Met)
c.1889C>T (p.Thr630Met)
c.1610C>T (p.Thr537Met)
c.1583C>T (p.Thr528Met)
c.1934C>T (p.Thr645Met)
COSMIC COSMIC
2g.162435242G>CCA349220736KCNH7c.1910C>G (p.Thr637Arg)
c.1889C>G (p.Thr630Arg)
c.1610C>G (p.Thr537Arg)
c.1583C>G (p.Thr528Arg)
c.1934C>G (p.Thr645Arg)
2g.162435242G>TCA349220734KCNH7c.1910C>A (p.Thr637Lys)
c.1889C>A (p.Thr630Lys)
c.1610C>A (p.Thr537Lys)
c.1583C>A (p.Thr528Lys)
c.1934C>A (p.Thr645Lys)
2g.162435243T>ACA349220739KCNH7c.1909A>T (p.Thr637Ser)
c.1888A>T (p.Thr630Ser)
c.1609A>T (p.Thr537Ser)
c.1582A>T (p.Thr528Ser)
c.1933A>T (p.Thr645Ser)
2g.162435243T>CCA349220737KCNH7c.1909A>G (p.Thr637Ala)
c.1888A>G (p.Thr630Ala)
c.1609A>G (p.Thr537Ala)
c.1582A>G (p.Thr528Ala)
c.1933A>G (p.Thr645Ala)
2g.162435243T>GCA349220738KCNH7c.1909A>C (p.Thr637Pro)
c.1888A>C (p.Thr630Pro)
c.1609A>C (p.Thr537Pro)
c.1582A>C (p.Thr528Pro)
c.1933A>C (p.Thr645Pro)
2g.162435244G>ACA1935615KCNH7c.1908C>T (p.Asn636=)
c.1887C>T (p.Asn629=)
c.1608C>T (p.Asn536=)
c.1581C>T (p.Asn527=)
c.1932C>T (p.Asn644=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435244G>CCA349220740KCNH7c.1908C>G (p.Asn636Lys)
c.1887C>G (p.Asn629Lys)
c.1608C>G (p.Asn536Lys)
c.1581C>G (p.Asn527Lys)
c.1932C>G (p.Asn644Lys)
2g.162435244G=CA1303221213KCNH7c.1908C= (p.Asn636=)
c.1887C= (p.Asn629=)
c.1608C= (p.Asn536=)
c.1581C= (p.Asn527=)
c.1932C= (p.Asn644=)
2g.162435244G>TCA349220741KCNH7c.1908C>A (p.Asn636Lys)
c.1887C>A (p.Asn629Lys)
c.1608C>A (p.Asn536Lys)
c.1581C>A (p.Asn527Lys)
c.1932C>A (p.Asn644Lys)
2g.162435245T>ACA349220744KCNH7c.1907A>T (p.Asn636Ile)
c.1886A>T (p.Asn629Ile)
c.1607A>T (p.Asn536Ile)
c.1580A>T (p.Asn527Ile)
c.1931A>T (p.Asn644Ile)
2g.162435245T>CCA349220743KCNH7c.1907A>G (p.Asn636Ser)
c.1886A>G (p.Asn629Ser)
c.1607A>G (p.Asn536Ser)
c.1580A>G (p.Asn527Ser)
c.1931A>G (p.Asn644Ser)
2g.162435245T>GCA349220742KCNH7c.1907A>C (p.Asn636Thr)
c.1886A>C (p.Asn629Thr)
c.1607A>C (p.Asn536Thr)
c.1580A>C (p.Asn527Thr)
c.1931A>C (p.Asn644Thr)
2g.162435246T>ACA349220745KCNH7c.1906A>T (p.Asn636Tyr)
c.1885A>T (p.Asn629Tyr)
c.1606A>T (p.Asn536Tyr)
c.1579A>T (p.Asn527Tyr)
c.1930A>T (p.Asn644Tyr)
2g.162435246T>CCA349220746KCNH7c.1906A>G (p.Asn636Asp)
c.1885A>G (p.Asn629Asp)
c.1606A>G (p.Asn536Asp)
c.1579A>G (p.Asn527Asp)
c.1930A>G (p.Asn644Asp)
2g.162435246T>GCA349220747KCNH7c.1906A>C (p.Asn636His)
c.1885A>C (p.Asn629His)
c.1606A>C (p.Asn536His)
c.1579A>C (p.Asn527His)
c.1930A>C (p.Asn644His)
2g.162435247A=CA1303221216KCNH7c.1905T= (p.Pro635=)
c.1884T= (p.Pro628=)
c.1605T= (p.Pro535=)
c.1578T= (p.Pro526=)
c.1929T= (p.Pro643=)
2g.162435247A>CCA429731591KCNH7c.1905T>G (p.Pro635=)
c.1884T>G (p.Pro628=)
c.1605T>G (p.Pro535=)
c.1578T>G (p.Pro526=)
c.1929T>G (p.Pro643=)
dbSNP gnomAD v3 gnomAD v4
2g.162435247A>GCA429731593KCNH7c.1905T>C (p.Pro635=)
c.1884T>C (p.Pro628=)
c.1605T>C (p.Pro535=)
c.1578T>C (p.Pro526=)
c.1929T>C (p.Pro643=)
2g.162435247A>TCA429731592KCNH7c.1905T>A (p.Pro635=)
c.1884T>A (p.Pro628=)
c.1605T>A (p.Pro535=)
c.1578T>A (p.Pro526=)
c.1929T>A (p.Pro643=)
2g.162435248G>ACA349220748KCNH7c.1904C>T (p.Pro635Leu)
c.1883C>T (p.Pro628Leu)
c.1604C>T (p.Pro535Leu)
c.1577C>T (p.Pro526Leu)
c.1928C>T (p.Pro643Leu)
2g.162435248G>CCA349220749KCNH7c.1904C>G (p.Pro635Arg)
c.1883C>G (p.Pro628Arg)
c.1604C>G (p.Pro535Arg)
c.1577C>G (p.Pro526Arg)
c.1928C>G (p.Pro643Arg)
2g.162435248G>TCA349220750KCNH7c.1904C>A (p.Pro635His)
c.1883C>A (p.Pro628His)
c.1604C>A (p.Pro535His)
c.1577C>A (p.Pro526His)
c.1928C>A (p.Pro643His)
2g.162435249G>ACA349220751KCNH7c.1903C>T (p.Pro635Ser)
c.1882C>T (p.Pro628Ser)
c.1603C>T (p.Pro535Ser)
c.1576C>T (p.Pro526Ser)
c.1927C>T (p.Pro643Ser)
2g.162435249G>CCA349220753KCNH7c.1903C>G (p.Pro635Ala)
c.1882C>G (p.Pro628Ala)
c.1603C>G (p.Pro535Ala)
c.1576C>G (p.Pro526Ala)
c.1927C>G (p.Pro643Ala)
2g.162435249G>TCA349220752KCNH7c.1903C>A (p.Pro635Thr)
c.1882C>A (p.Pro628Thr)
c.1603C>A (p.Pro535Thr)
c.1576C>A (p.Pro526Thr)
c.1927C>A (p.Pro643Thr)
2g.162435250A>CCA429731595KCNH7c.1902T>G (p.Ser634=)
c.1881T>G (p.Ser627=)
c.1602T>G (p.Ser534=)
c.1575T>G (p.Ser525=)
c.1926T>G (p.Ser642=)
2g.162435250A>GCA429731596KCNH7c.1902T>C (p.Ser634=)
c.1881T>C (p.Ser627=)
c.1602T>C (p.Ser534=)
c.1575T>C (p.Ser525=)
c.1926T>C (p.Ser642=)
2g.162435250A>TCA429731597KCNH7c.1902T>A (p.Ser634=)
c.1881T>A (p.Ser627=)
c.1602T>A (p.Ser534=)
c.1575T>A (p.Ser525=)
c.1926T>A (p.Ser642=)
2g.162435251G>ACA59809324KCNH7c.1901C>T (p.Ser634Phe)
c.1880C>T (p.Ser627Phe)
c.1601C>T (p.Ser534Phe)
c.1574C>T (p.Ser525Phe)
c.1925C>T (p.Ser642Phe)
dbSNP
2g.162435251G>CCA349220754KCNH7c.1901C>G (p.Ser634Cys)
c.1880C>G (p.Ser627Cys)
c.1601C>G (p.Ser534Cys)
c.1574C>G (p.Ser525Cys)
c.1925C>G (p.Ser642Cys)
2g.162435251G=CA1303221221KCNH7c.1901C= (p.Ser634=)
c.1880C= (p.Ser627=)
c.1601C= (p.Ser534=)
c.1574C= (p.Ser525=)
c.1925C= (p.Ser642=)
2g.162435251G>TCA349220755KCNH7c.1901C>A (p.Ser634Tyr)
c.1880C>A (p.Ser627Tyr)
c.1601C>A (p.Ser534Tyr)
c.1574C>A (p.Ser525Tyr)
c.1925C>A (p.Ser642Tyr)
2g.162435252A>CCA349220756KCNH7c.1900T>G (p.Ser634Ala)
c.1879T>G (p.Ser627Ala)
c.1600T>G (p.Ser534Ala)
c.1573T>G (p.Ser525Ala)
c.1924T>G (p.Ser642Ala)
2g.162435252A>GCA349220757KCNH7c.1900T>C (p.Ser634Pro)
c.1879T>C (p.Ser627Pro)
c.1600T>C (p.Ser534Pro)
c.1573T>C (p.Ser525Pro)
c.1924T>C (p.Ser642Pro)
2g.162435252A>TCA349220758KCNH7c.1900T>A (p.Ser634Thr)
c.1879T>A (p.Ser627Thr)
c.1600T>A (p.Ser534Thr)
c.1573T>A (p.Ser525Thr)
c.1924T>A (p.Ser642Thr)
2g.162435253C>ACA429731604KCNH7c.1899G>T (p.Val633=)
c.1878G>T (p.Val626=)
c.1599G>T (p.Val533=)
c.1572G>T (p.Val524=)
c.1923G>T (p.Val641=)
2g.162435253C>GCA429731606KCNH7c.1899G>C (p.Val633=)
c.1878G>C (p.Val626=)
c.1599G>C (p.Val533=)
c.1572G>C (p.Val524=)
c.1923G>C (p.Val641=)
2g.162435253C>TCA429731607KCNH7c.1899G>A (p.Val633=)
c.1878G>A (p.Val626=)
c.1599G>A (p.Val533=)
c.1572G>A (p.Val524=)
c.1923G>A (p.Val641=)
2g.162435254A>CCA349220759KCNH7c.1898T>G (p.Val633Gly)
c.1877T>G (p.Val626Gly)
c.1598T>G (p.Val533Gly)
c.1571T>G (p.Val524Gly)
c.1922T>G (p.Val641Gly)
2g.162435254A>GCA349220760KCNH7c.1898T>C (p.Val633Ala)
c.1877T>C (p.Val626Ala)
c.1598T>C (p.Val533Ala)
c.1571T>C (p.Val524Ala)
c.1922T>C (p.Val641Ala)
2g.162435254A>TCA349220761KCNH7c.1898T>A (p.Val633Glu)
c.1877T>A (p.Val626Glu)
c.1598T>A (p.Val533Glu)
c.1571T>A (p.Val524Glu)
c.1922T>A (p.Val641Glu)
2g.162435255C>ACA349220762KCNH7c.1897G>T (p.Val633Leu)
c.1876G>T (p.Val626Leu)
c.1597G>T (p.Val533Leu)
c.1570G>T (p.Val524Leu)
c.1921G>T (p.Val641Leu)
2g.162435255C>GCA349220763KCNH7c.1897G>C (p.Val633Leu)
c.1876G>C (p.Val626Leu)
c.1597G>C (p.Val533Leu)
c.1570G>C (p.Val524Leu)
c.1921G>C (p.Val641Leu)
2g.162435255C>TCA349220764KCNH7c.1897G>A (p.Val633Met)
c.1876G>A (p.Val626Met)
c.1597G>A (p.Val533Met)
c.1570G>A (p.Val524Met)
c.1921G>A (p.Val641Met)
2g.162435255_162435256insCAAAAGGTCTTTTTGAACCTTAGGGACA2511075709KCNH7c.1896_1897insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val633SerfsTer26)
c.1875_1876insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val626SerfsTer26)
c.1596_1597insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val533SerfsTer26)
c.1569_1570insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val524SerfsTer26)
c.1920_1921insTCCCTAAGGTTCAAAAAGACCTTTTG (p.Val641SerfsTer26)
2g.162435256A>CCA349220765KCNH7c.1896T>G (p.Asn632Lys)
c.1875T>G (p.Asn625Lys)
c.1596T>G (p.Asn532Lys)
c.1569T>G (p.Asn523Lys)
c.1920T>G (p.Asn640Lys)
2g.162435256A>GCA429731614KCNH7c.1896T>C (p.Asn632=)
c.1875T>C (p.Asn625=)
c.1596T>C (p.Asn532=)
c.1569T>C (p.Asn523=)
c.1920T>C (p.Asn640=)
2g.162435256A>TCA349220766KCNH7c.1896T>A (p.Asn632Lys)
c.1875T>A (p.Asn625Lys)
c.1596T>A (p.Asn532Lys)
c.1569T>A (p.Asn523Lys)
c.1920T>A (p.Asn640Lys)
2g.162435257T>ACA349220767KCNH7c.1895A>T (p.Asn632Ile)
c.1874A>T (p.Asn625Ile)
c.1595A>T (p.Asn532Ile)
c.1568A>T (p.Asn523Ile)
c.1919A>T (p.Asn640Ile)
2g.162435257T>CCA349220769KCNH7c.1895A>G (p.Asn632Ser)
c.1874A>G (p.Asn625Ser)
c.1595A>G (p.Asn532Ser)
c.1568A>G (p.Asn523Ser)
c.1919A>G (p.Asn640Ser)
2g.162435257T>GCA349220768KCNH7c.1895A>C (p.Asn632Thr)
c.1874A>C (p.Asn625Thr)
c.1595A>C (p.Asn532Thr)
c.1568A>C (p.Asn523Thr)
c.1919A>C (p.Asn640Thr)
2g.162435258T>ACA349220770KCNH7c.1894A>T (p.Asn632Tyr)
c.1873A>T (p.Asn625Tyr)
c.1594A>T (p.Asn532Tyr)
c.1567A>T (p.Asn523Tyr)
c.1918A>T (p.Asn640Tyr)
2g.162435258T>CCA349220771KCNH7c.1894A>G (p.Asn632Asp)
c.1873A>G (p.Asn625Asp)
c.1594A>G (p.Asn532Asp)
c.1567A>G (p.Asn523Asp)
c.1918A>G (p.Asn640Asp)
2g.162435258T>GCA349220772KCNH7c.1894A>C (p.Asn632His)
c.1873A>C (p.Asn625His)
c.1594A>C (p.Asn532His)
c.1567A>C (p.Asn523His)
c.1918A>C (p.Asn640His)
2g.162435259C>ACA429731617KCNH7c.1893G>T (p.Gly631=)
c.1872G>T (p.Gly624=)
c.1593G>T (p.Gly531=)
c.1566G>T (p.Gly522=)
c.1917G>T (p.Gly639=)
2g.162435259C>GCA429731618KCNH7c.1893G>C (p.Gly631=)
c.1872G>C (p.Gly624=)
c.1593G>C (p.Gly531=)
c.1566G>C (p.Gly522=)
c.1917G>C (p.Gly639=)
2g.162435259C>TCA429731619KCNH7c.1893G>A (p.Gly631=)
c.1872G>A (p.Gly624=)
c.1593G>A (p.Gly531=)
c.1566G>A (p.Gly522=)
c.1917G>A (p.Gly639=)
gnomAD v4 COSMIC COSMIC
2g.162435260C>ACA349220773KCNH7c.1892G>T (p.Gly631Val)
c.1871G>T (p.Gly624Val)
c.1592G>T (p.Gly531Val)
c.1565G>T (p.Gly522Val)
c.1916G>T (p.Gly639Val)
2g.162435260C>GCA349220774KCNH7c.1892G>C (p.Gly631Ala)
c.1871G>C (p.Gly624Ala)
c.1592G>C (p.Gly531Ala)
c.1565G>C (p.Gly522Ala)
c.1916G>C (p.Gly639Ala)
2g.162435260C>TCA349220775KCNH7c.1892G>A (p.Gly631Glu)
c.1871G>A (p.Gly624Glu)
c.1592G>A (p.Gly531Glu)
c.1565G>A (p.Gly522Glu)
c.1916G>A (p.Gly639Glu)
COSMIC COSMIC
2g.162435261C>ACA349220776KCNH7c.1891G>T (p.Gly631Trp)
c.1870G>T (p.Gly624Trp)
c.1591G>T (p.Gly531Trp)
c.1564G>T (p.Gly522Trp)
c.1915G>T (p.Gly639Trp)
2g.162435261C>GCA349220777KCNH7c.1891G>C (p.Gly631Arg)
c.1870G>C (p.Gly624Arg)
c.1591G>C (p.Gly531Arg)
c.1564G>C (p.Gly522Arg)
c.1915G>C (p.Gly639Arg)
2g.162435261C>TCA349220778KCNH7c.1891G>A (p.Gly631Arg)
c.1870G>A (p.Gly624Arg)
c.1591G>A (p.Gly531Arg)
c.1564G>A (p.Gly522Arg)
c.1915G>A (p.Gly639Arg)
2g.162435262G>ACA429731622KCNH7c.1890C>T (p.Phe630=)
c.1869C>T (p.Phe623=)
c.1590C>T (p.Phe530=)
c.1563C>T (p.Phe521=)
c.1914C>T (p.Phe638=)
gnomAD v4
2g.162435262G>CCA349220779KCNH7c.1890C>G (p.Phe630Leu)
c.1869C>G (p.Phe623Leu)
c.1590C>G (p.Phe530Leu)
c.1563C>G (p.Phe521Leu)
c.1914C>G (p.Phe638Leu)
2g.162435262G>TCA349220780KCNH7c.1890C>A (p.Phe630Leu)
c.1869C>A (p.Phe623Leu)
c.1590C>A (p.Phe530Leu)
c.1563C>A (p.Phe521Leu)
c.1914C>A (p.Phe638Leu)
2g.162435263A>CCA349220783KCNH7c.1889T>G (p.Phe630Cys)
c.1868T>G (p.Phe623Cys)
c.1589T>G (p.Phe530Cys)
c.1562T>G (p.Phe521Cys)
c.1913T>G (p.Phe638Cys)
2g.162435263A>GCA349220782KCNH7c.1889T>C (p.Phe630Ser)
c.1868T>C (p.Phe623Ser)
c.1589T>C (p.Phe530Ser)
c.1562T>C (p.Phe521Ser)
c.1913T>C (p.Phe638Ser)
2g.162435263A>TCA349220781KCNH7c.1889T>A (p.Phe630Tyr)
c.1868T>A (p.Phe623Tyr)
c.1589T>A (p.Phe530Tyr)
c.1562T>A (p.Phe521Tyr)
c.1913T>A (p.Phe638Tyr)
2g.162435264A>CCA349220784KCNH7c.1888T>G (p.Phe630Val)
c.1867T>G (p.Phe623Val)
c.1588T>G (p.Phe530Val)
c.1561T>G (p.Phe521Val)
c.1912T>G (p.Phe638Val)
2g.162435264A>GCA349220785KCNH7c.1888T>C (p.Phe630Leu)
c.1867T>C (p.Phe623Leu)
c.1588T>C (p.Phe530Leu)
c.1561T>C (p.Phe521Leu)
c.1912T>C (p.Phe638Leu)
2g.162435264A>TCA349220786KCNH7c.1888T>A (p.Phe630Ile)
c.1867T>A (p.Phe623Ile)
c.1588T>A (p.Phe530Ile)
c.1561T>A (p.Phe521Ile)
c.1912T>A (p.Phe638Ile)
2g.162435265T>ACA429731626KCNH7c.1887A>T (p.Gly629=)
c.1866A>T (p.Gly622=)
c.1587A>T (p.Gly529=)
c.1560A>T (p.Gly520=)
c.1911A>T (p.Gly637=)
2g.162435265T>CCA429731627KCNH7c.1887A>G (p.Gly629=)
c.1866A>G (p.Gly622=)
c.1587A>G (p.Gly529=)
c.1560A>G (p.Gly520=)
c.1911A>G (p.Gly637=)
2g.162435265T>GCA429731628KCNH7c.1887A>C (p.Gly629=)
c.1866A>C (p.Gly622=)
c.1587A>C (p.Gly529=)
c.1560A>C (p.Gly520=)
c.1911A>C (p.Gly637=)
2g.162435266C>ACA349220787KCNH7c.1886G>T (p.Gly629Val)
c.1865G>T (p.Gly622Val)
c.1586G>T (p.Gly529Val)
c.1559G>T (p.Gly520Val)
c.1910G>T (p.Gly637Val)
gnomAD v4
2g.162435266C>GCA349220788KCNH7c.1886G>C (p.Gly629Ala)
c.1865G>C (p.Gly622Ala)
c.1586G>C (p.Gly529Ala)
c.1559G>C (p.Gly520Ala)
c.1910G>C (p.Gly637Ala)
2g.162435266C>TCA349220789KCNH7c.1886G>A (p.Gly629Glu)
c.1865G>A (p.Gly622Glu)
c.1586G>A (p.Gly529Glu)
c.1559G>A (p.Gly520Glu)
c.1910G>A (p.Gly637Glu)
COSMIC COSMIC
2g.162435267C>ACA349220790KCNH7c.1885G>T (p.Gly629Ter)
c.1864G>T (p.Gly622Ter)
c.1585G>T (p.Gly529Ter)
c.1558G>T (p.Gly520Ter)
c.1909G>T (p.Gly637Ter)
2g.162435267C>GCA349220791KCNH7c.1885G>C (p.Gly629Arg)
c.1864G>C (p.Gly622Arg)
c.1585G>C (p.Gly529Arg)
c.1558G>C (p.Gly520Arg)
c.1909G>C (p.Gly637Arg)
2g.162435267C>TCA349220792KCNH7c.1885G>A (p.Gly629Arg)
c.1864G>A (p.Gly622Arg)
c.1585G>A (p.Gly529Arg)
c.1558G>A (p.Gly520Arg)
c.1909G>A (p.Gly637Arg)
2g.162435268T>ACA429731630KCNH7c.1884A>T (p.Val628=)
c.1863A>T (p.Val621=)
c.1584A>T (p.Val528=)
c.1557A>T (p.Val519=)
c.1908A>T (p.Val636=)
2g.162435268T>CCA429731634KCNH7c.1884A>G (p.Val628=)
c.1863A>G (p.Val621=)
c.1584A>G (p.Val528=)
c.1557A>G (p.Val519=)
c.1908A>G (p.Val636=)
2g.162435268T>GCA429731632KCNH7c.1884A>C (p.Val628=)
c.1863A>C (p.Val621=)
c.1584A>C (p.Val528=)
c.1557A>C (p.Val519=)
c.1908A>C (p.Val636=)
2g.162435269A>CCA349220793KCNH7c.1883T>G (p.Val628Gly)
c.1862T>G (p.Val621Gly)
c.1583T>G (p.Val528Gly)
c.1556T>G (p.Val519Gly)
c.1907T>G (p.Val636Gly)
2g.162435269A>GCA349220794KCNH7c.1883T>C (p.Val628Ala)
c.1862T>C (p.Val621Ala)
c.1583T>C (p.Val528Ala)
c.1556T>C (p.Val519Ala)
c.1907T>C (p.Val636Ala)
2g.162435269A>TCA349220795KCNH7c.1883T>A (p.Val628Glu)
c.1862T>A (p.Val621Glu)
c.1583T>A (p.Val528Glu)
c.1556T>A (p.Val519Glu)
c.1907T>A (p.Val636Glu)
2g.162435270C>ACA349220798KCNH7c.1882G>T (p.Val628Leu)
c.1861G>T (p.Val621Leu)
c.1582G>T (p.Val528Leu)
c.1555G>T (p.Val519Leu)
c.1906G>T (p.Val636Leu)
2g.162435270C>GCA349220797KCNH7c.1882G>C (p.Val628Leu)
c.1861G>C (p.Val621Leu)
c.1582G>C (p.Val528Leu)
c.1555G>C (p.Val519Leu)
c.1906G>C (p.Val636Leu)
2g.162435270C>TCA349220796KCNH7c.1882G>A (p.Val628Ile)
c.1861G>A (p.Val621Ile)
c.1582G>A (p.Val528Ile)
c.1555G>A (p.Val519Ile)
c.1906G>A (p.Val636Ile)
2g.162435271A>CCA349220799KCNH7c.1881T>G (p.Ser627Arg)
c.1860T>G (p.Ser620Arg)
c.1581T>G (p.Ser527Arg)
c.1554T>G (p.Ser518Arg)
c.1905T>G (p.Ser635Arg)
2g.162435271A>GCA429731640KCNH7c.1881T>C (p.Ser627=)
c.1860T>C (p.Ser620=)
c.1581T>C (p.Ser527=)
c.1554T>C (p.Ser518=)
c.1905T>C (p.Ser635=)
gnomAD v4
2g.162435271A>TCA349220800KCNH7c.1881T>A (p.Ser627Arg)
c.1860T>A (p.Ser620Arg)
c.1581T>A (p.Ser527Arg)
c.1554T>A (p.Ser518Arg)
c.1905T>A (p.Ser635Arg)
2g.162435272C>ACA349220801KCNH7c.1880G>T (p.Ser627Ile)
c.1859G>T (p.Ser620Ile)
c.1580G>T (p.Ser527Ile)
c.1553G>T (p.Ser518Ile)
c.1904G>T (p.Ser635Ile)
2g.162435272C>GCA349220803KCNH7c.1880G>C (p.Ser627Thr)
c.1859G>C (p.Ser620Thr)
c.1580G>C (p.Ser527Thr)
c.1553G>C (p.Ser518Thr)
c.1904G>C (p.Ser635Thr)
2g.162435272C>TCA349220802KCNH7c.1880G>A (p.Ser627Asn)
c.1859G>A (p.Ser620Asn)
c.1580G>A (p.Ser527Asn)
c.1553G>A (p.Ser518Asn)
c.1904G>A (p.Ser635Asn)
2g.162435273T>ACA349220804KCNH7c.1879A>T (p.Ser627Cys)
c.1858A>T (p.Ser620Cys)
c.1579A>T (p.Ser527Cys)
c.1552A>T (p.Ser518Cys)
c.1903A>T (p.Ser635Cys)
2g.162435273T>CCA349220805KCNH7c.1879A>G (p.Ser627Gly)
c.1858A>G (p.Ser620Gly)
c.1579A>G (p.Ser527Gly)
c.1552A>G (p.Ser518Gly)
c.1903A>G (p.Ser635Gly)
2g.162435273T>GCA349220806KCNH7c.1879A>C (p.Ser627Arg)
c.1858A>C (p.Ser620Arg)
c.1579A>C (p.Ser527Arg)
c.1552A>C (p.Ser518Arg)
c.1903A>C (p.Ser635Arg)
2g.162435274G>ACA429731642KCNH7c.1878C>T (p.Thr626=)
c.1857C>T (p.Thr619=)
c.1578C>T (p.Thr526=)
c.1551C>T (p.Thr517=)
c.1902C>T (p.Thr634=)
2g.162435274G>CCA429731643KCNH7c.1878C>G (p.Thr626=)
c.1857C>G (p.Thr619=)
c.1578C>G (p.Thr526=)
c.1551C>G (p.Thr517=)
c.1902C>G (p.Thr634=)
2g.162435274G=CA1303221223KCNH7c.1878C= (p.Thr626=)
c.1857C= (p.Thr619=)
c.1578C= (p.Thr526=)
c.1551C= (p.Thr517=)
c.1902C= (p.Thr634=)
2g.162435274G>TCA429731645KCNH7c.1878C>A (p.Thr626=)
c.1857C>A (p.Thr619=)
c.1578C>A (p.Thr526=)
c.1551C>A (p.Thr517=)
c.1902C>A (p.Thr634=)
dbSNP gnomAD v2 gnomAD v4
2g.162435275G>ACA349220807KCNH7c.1877C>T (p.Thr626Ile)
c.1856C>T (p.Thr619Ile)
c.1577C>T (p.Thr526Ile)
c.1550C>T (p.Thr517Ile)
c.1901C>T (p.Thr634Ile)
2g.162435275G>CCA349220808KCNH7c.1877C>G (p.Thr626Ser)
c.1856C>G (p.Thr619Ser)
c.1577C>G (p.Thr526Ser)
c.1550C>G (p.Thr517Ser)
c.1901C>G (p.Thr634Ser)
2g.162435275G>TCA349220809KCNH7c.1877C>A (p.Thr626Asn)
c.1856C>A (p.Thr619Asn)
c.1577C>A (p.Thr526Asn)
c.1550C>A (p.Thr517Asn)
c.1901C>A (p.Thr634Asn)
2g.162435276T>ACA349220810KCNH7c.1876A>T (p.Thr626Ser)
c.1855A>T (p.Thr619Ser)
c.1576A>T (p.Thr526Ser)
c.1549A>T (p.Thr517Ser)
c.1900A>T (p.Thr634Ser)
2g.162435276T>CCA349220811KCNH7c.1876A>G (p.Thr626Ala)
c.1855A>G (p.Thr619Ala)
c.1576A>G (p.Thr526Ala)
c.1549A>G (p.Thr517Ala)
c.1900A>G (p.Thr634Ala)
2g.162435276T>GCA349220812KCNH7c.1876A>C (p.Thr626Pro)
c.1855A>C (p.Thr619Pro)
c.1576A>C (p.Thr526Pro)
c.1549A>C (p.Thr517Pro)
c.1900A>C (p.Thr634Pro)
2g.162435277T>ACA349220813KCNH7c.1875A>T (p.Leu625Phe)
c.1854A>T (p.Leu618Phe)
c.1575A>T (p.Leu525Phe)
c.1548A>T (p.Leu516Phe)
c.1899A>T (p.Leu633Phe)
2g.162435277T>CCA429731647KCNH7c.1875A>G (p.Leu625=)
c.1854A>G (p.Leu618=)
c.1575A>G (p.Leu525=)
c.1548A>G (p.Leu516=)
c.1899A>G (p.Leu633=)
2g.162435277T>GCA349220814KCNH7c.1875A>C (p.Leu625Phe)
c.1854A>C (p.Leu618Phe)
c.1575A>C (p.Leu525Phe)
c.1548A>C (p.Leu516Phe)
c.1899A>C (p.Leu633Phe)
2g.162435278A>CCA349220817KCNH7c.1874T>G (p.Leu625Ter)
c.1853T>G (p.Leu618Ter)
c.1574T>G (p.Leu525Ter)
c.1547T>G (p.Leu516Ter)
c.1898T>G (p.Leu633Ter)
2g.162435278A>GCA349220816KCNH7c.1874T>C (p.Leu625Ser)
c.1853T>C (p.Leu618Ser)
c.1574T>C (p.Leu525Ser)
c.1547T>C (p.Leu516Ser)
c.1898T>C (p.Leu633Ser)
2g.162435278A>TCA349220815KCNH7c.1874T>A (p.Leu625Ter)
c.1853T>A (p.Leu618Ter)
c.1574T>A (p.Leu525Ter)
c.1547T>A (p.Leu516Ter)
c.1898T>A (p.Leu633Ter)
2g.162435279A>CCA349220818KCNH7c.1873T>G (p.Leu625Val)
c.1852T>G (p.Leu618Val)
c.1573T>G (p.Leu525Val)
c.1546T>G (p.Leu516Val)
c.1897T>G (p.Leu633Val)
2g.162435279A>GCA429731651KCNH7c.1873T>C (p.Leu625=)
c.1852T>C (p.Leu618=)
c.1573T>C (p.Leu525=)
c.1546T>C (p.Leu516=)
c.1897T>C (p.Leu633=)
2g.162435279A>TCA349220819KCNH7c.1873T>A (p.Leu625Ile)
c.1852T>A (p.Leu618Ile)
c.1573T>A (p.Leu525Ile)
c.1546T>A (p.Leu516Ile)
c.1897T>A (p.Leu633Ile)
2g.162435280A>CCA349220820KCNH7c.1872T>G (p.Ser624Arg)
c.1851T>G (p.Ser617Arg)
c.1572T>G (p.Ser524Arg)
c.1545T>G (p.Ser515Arg)
c.1896T>G (p.Ser632Arg)
2g.162435280A>GCA429731652KCNH7c.1872T>C (p.Ser624=)
c.1851T>C (p.Ser617=)
c.1572T>C (p.Ser524=)
c.1545T>C (p.Ser515=)
c.1896T>C (p.Ser632=)
2g.162435280A>TCA349220821KCNH7c.1872T>A (p.Ser624Arg)
c.1851T>A (p.Ser617Arg)
c.1572T>A (p.Ser524Arg)
c.1545T>A (p.Ser515Arg)
c.1896T>A (p.Ser632Arg)
2g.162435281C>ACA349220822KCNH7c.1871G>T (p.Ser624Ile)
c.1850G>T (p.Ser617Ile)
c.1571G>T (p.Ser524Ile)
c.1544G>T (p.Ser515Ile)
c.1895G>T (p.Ser632Ile)
2g.162435281C>GCA349220823KCNH7c.1871G>C (p.Ser624Thr)
c.1850G>C (p.Ser617Thr)
c.1571G>C (p.Ser524Thr)
c.1544G>C (p.Ser515Thr)
c.1895G>C (p.Ser632Thr)
2g.162435281C>TCA349220824KCNH7c.1871G>A (p.Ser624Asn)
c.1850G>A (p.Ser617Asn)
c.1571G>A (p.Ser524Asn)
c.1544G>A (p.Ser515Asn)
c.1895G>A (p.Ser632Asn)
COSMIC COSMIC
2g.162435282T>ACA349220825KCNH7c.1870A>T (p.Ser624Cys)
c.1849A>T (p.Ser617Cys)
c.1570A>T (p.Ser524Cys)
c.1543A>T (p.Ser515Cys)
c.1894A>T (p.Ser632Cys)
2g.162435282T>CCA349220826KCNH7c.1870A>G (p.Ser624Gly)
c.1849A>G (p.Ser617Gly)
c.1570A>G (p.Ser524Gly)
c.1543A>G (p.Ser515Gly)
c.1894A>G (p.Ser632Gly)
2g.162435282T>GCA349220827KCNH7c.1870A>C (p.Ser624Arg)
c.1849A>C (p.Ser617Arg)
c.1570A>C (p.Ser524Arg)
c.1543A>C (p.Ser515Arg)
c.1894A>C (p.Ser632Arg)
2g.162435283G>ACA429731655KCNH7c.1869C>T (p.Ser623=)
c.1848C>T (p.Ser616=)
c.1569C>T (p.Ser523=)
c.1542C>T (p.Ser514=)
c.1893C>T (p.Ser631=)
2g.162435283G>CCA349220828KCNH7c.1869C>G (p.Ser623Arg)
c.1848C>G (p.Ser616Arg)
c.1569C>G (p.Ser523Arg)
c.1542C>G (p.Ser514Arg)
c.1893C>G (p.Ser631Arg)
2g.162435283G>TCA349220829KCNH7c.1869C>A (p.Ser623Arg)
c.1848C>A (p.Ser616Arg)
c.1569C>A (p.Ser523Arg)
c.1542C>A (p.Ser514Arg)
c.1893C>A (p.Ser631Arg)
2g.162435284C>ACA349220832KCNH7c.1868G>T (p.Ser623Ile)
c.1847G>T (p.Ser616Ile)
c.1568G>T (p.Ser523Ile)
c.1541G>T (p.Ser514Ile)
c.1892G>T (p.Ser631Ile)
2g.162435284C>GCA349220831KCNH7c.1868G>C (p.Ser623Thr)
c.1847G>C (p.Ser616Thr)
c.1568G>C (p.Ser523Thr)
c.1541G>C (p.Ser514Thr)
c.1892G>C (p.Ser631Thr)
2g.162435284C>TCA349220830KCNH7c.1868G>A (p.Ser623Asn)
c.1847G>A (p.Ser616Asn)
c.1568G>A (p.Ser523Asn)
c.1541G>A (p.Ser514Asn)
c.1892G>A (p.Ser631Asn)
2g.162435285T>ACA349220833KCNH7c.1867A>T (p.Ser623Cys)
c.1846A>T (p.Ser616Cys)
c.1567A>T (p.Ser523Cys)
c.1540A>T (p.Ser514Cys)
c.1891A>T (p.Ser631Cys)
2g.162435285T>CCA349220834KCNH7c.1867A>G (p.Ser623Gly)
c.1846A>G (p.Ser616Gly)
c.1567A>G (p.Ser523Gly)
c.1540A>G (p.Ser514Gly)
c.1891A>G (p.Ser631Gly)
2g.162435285T>GCA349220835KCNH7c.1867A>C (p.Ser623Arg)
c.1846A>C (p.Ser616Arg)
c.1567A>C (p.Ser523Arg)
c.1540A>C (p.Ser514Arg)
c.1891A>C (p.Ser631Arg)
2g.162435286G>ACA429731661KCNH7c.1866C>T (p.Phe622=)
c.1845C>T (p.Phe615=)
c.1566C>T (p.Phe522=)
c.1539C>T (p.Phe513=)
c.1890C>T (p.Phe630=)
COSMIC COSMIC
2g.162435286G>CCA349220836KCNH7c.1866C>G (p.Phe622Leu)
c.1845C>G (p.Phe615Leu)
c.1566C>G (p.Phe522Leu)
c.1539C>G (p.Phe513Leu)
c.1890C>G (p.Phe630Leu)
2g.162435286G>TCA349220837KCNH7c.1866C>A (p.Phe622Leu)
c.1845C>A (p.Phe615Leu)
c.1566C>A (p.Phe522Leu)
c.1539C>A (p.Phe513Leu)
c.1890C>A (p.Phe630Leu)
2g.162435287A>CCA349220840KCNH7c.1865T>G (p.Phe622Cys)
c.1844T>G (p.Phe615Cys)
c.1565T>G (p.Phe522Cys)
c.1538T>G (p.Phe513Cys)
c.1889T>G (p.Phe630Cys)
2g.162435287A>GCA349220839KCNH7c.1865T>C (p.Phe622Ser)
c.1844T>C (p.Phe615Ser)
c.1565T>C (p.Phe522Ser)
c.1538T>C (p.Phe513Ser)
c.1889T>C (p.Phe630Ser)
2g.162435287A>TCA349220838KCNH7c.1865T>A (p.Phe622Tyr)
c.1844T>A (p.Phe615Tyr)
c.1565T>A (p.Phe522Tyr)
c.1538T>A (p.Phe513Tyr)
c.1889T>A (p.Phe630Tyr)
2g.162435288A>CCA349220841KCNH7c.1864T>G (p.Phe622Val)
c.1843T>G (p.Phe615Val)
c.1564T>G (p.Phe522Val)
c.1537T>G (p.Phe513Val)
c.1888T>G (p.Phe630Val)
2g.162435288A>GCA349220842KCNH7c.1864T>C (p.Phe622Leu)
c.1843T>C (p.Phe615Leu)
c.1564T>C (p.Phe522Leu)
c.1537T>C (p.Phe513Leu)
c.1888T>C (p.Phe630Leu)
2g.162435288A>TCA349220843KCNH7c.1864T>A (p.Phe622Ile)
c.1843T>A (p.Phe615Ile)
c.1564T>A (p.Phe522Ile)
c.1537T>A (p.Phe513Ile)
c.1888T>A (p.Phe630Ile)
2g.162435289G>ACA429731663KCNH7c.1863C>T (p.Thr621=)
c.1842C>T (p.Thr614=)
c.1563C>T (p.Thr521=)
c.1536C>T (p.Thr512=)
c.1887C>T (p.Thr629=)
gnomAD v4
2g.162435289G>CCA429731664KCNH7c.1863C>G (p.Thr621=)
c.1842C>G (p.Thr614=)
c.1563C>G (p.Thr521=)
c.1536C>G (p.Thr512=)
c.1887C>G (p.Thr629=)
2g.162435289G>TCA429731665KCNH7c.1863C>A (p.Thr621=)
c.1842C>A (p.Thr614=)
c.1563C>A (p.Thr521=)
c.1536C>A (p.Thr512=)
c.1887C>A (p.Thr629=)
2g.162435290G>ACA349220844KCNH7c.1862C>T (p.Thr621Ile)
c.1841C>T (p.Thr614Ile)
c.1562C>T (p.Thr521Ile)
c.1535C>T (p.Thr512Ile)
c.1886C>T (p.Thr629Ile)
2g.162435290G>CCA349220845KCNH7c.1862C>G (p.Thr621Ser)
c.1841C>G (p.Thr614Ser)
c.1562C>G (p.Thr521Ser)
c.1535C>G (p.Thr512Ser)
c.1886C>G (p.Thr629Ser)
2g.162435290G>TCA349220846KCNH7c.1862C>A (p.Thr621Asn)
c.1841C>A (p.Thr614Asn)
c.1562C>A (p.Thr521Asn)
c.1535C>A (p.Thr512Asn)
c.1886C>A (p.Thr629Asn)
2g.162435291T>ACA349220847KCNH7c.1861A>T (p.Thr621Ser)
c.1840A>T (p.Thr614Ser)
c.1561A>T (p.Thr521Ser)
c.1534A>T (p.Thr512Ser)
c.1885A>T (p.Thr629Ser)
2g.162435291T>CCA349220849KCNH7c.1861A>G (p.Thr621Ala)
c.1840A>G (p.Thr614Ala)
c.1561A>G (p.Thr521Ala)
c.1534A>G (p.Thr512Ala)
c.1885A>G (p.Thr629Ala)
2g.162435291T>GCA349220848KCNH7c.1861A>C (p.Thr621Pro)
c.1840A>C (p.Thr614Pro)
c.1561A>C (p.Thr521Pro)
c.1534A>C (p.Thr512Pro)
c.1885A>C (p.Thr629Pro)
2g.162435292A>CCA349220850KCNH7c.1860T>G (p.Phe620Leu)
c.1839T>G (p.Phe613Leu)
c.1560T>G (p.Phe520Leu)
c.1533T>G (p.Phe511Leu)
c.1884T>G (p.Phe628Leu)
2g.162435292A>GCA429731669KCNH7c.1860T>C (p.Phe620=)
c.1839T>C (p.Phe613=)
c.1560T>C (p.Phe520=)
c.1533T>C (p.Phe511=)
c.1884T>C (p.Phe628=)
2g.162435292A>TCA349220851KCNH7c.1860T>A (p.Phe620Leu)
c.1839T>A (p.Phe613Leu)
c.1560T>A (p.Phe520Leu)
c.1533T>A (p.Phe511Leu)
c.1884T>A (p.Phe628Leu)
2g.162435293A>CCA349220852KCNH7c.1859T>G (p.Phe620Cys)
c.1838T>G (p.Phe613Cys)
c.1559T>G (p.Phe520Cys)
c.1532T>G (p.Phe511Cys)
c.1883T>G (p.Phe628Cys)
2g.162435293A>GCA349220853KCNH7c.1859T>C (p.Phe620Ser)
c.1838T>C (p.Phe613Ser)
c.1559T>C (p.Phe520Ser)
c.1532T>C (p.Phe511Ser)
c.1883T>C (p.Phe628Ser)
2g.162435293A>TCA349220854KCNH7c.1859T>A (p.Phe620Tyr)
c.1838T>A (p.Phe613Tyr)
c.1559T>A (p.Phe520Tyr)
c.1532T>A (p.Phe511Tyr)
c.1883T>A (p.Phe628Tyr)
2g.162435294A>CCA349220855KCNH7c.1858T>G (p.Phe620Val)
c.1837T>G (p.Phe613Val)
c.1558T>G (p.Phe520Val)
c.1531T>G (p.Phe511Val)
c.1882T>G (p.Phe628Val)
2g.162435294A>GCA349220856KCNH7c.1858T>C (p.Phe620Leu)
c.1837T>C (p.Phe613Leu)
c.1558T>C (p.Phe520Leu)
c.1531T>C (p.Phe511Leu)
c.1882T>C (p.Phe628Leu)
2g.162435294A>TCA349220857KCNH7c.1858T>A (p.Phe620Ile)
c.1837T>A (p.Phe613Ile)
c.1558T>A (p.Phe520Ile)
c.1531T>A (p.Phe511Ile)
c.1882T>A (p.Phe628Ile)
2g.162435295A>CCA349220858KCNH7c.1857T>G (p.Tyr619Ter)
c.1836T>G (p.Tyr612Ter)
c.1557T>G (p.Tyr519Ter)
c.1530T>G (p.Tyr510Ter)
c.1881T>G (p.Tyr627Ter)
2g.162435295A>GCA429731671KCNH7c.1857T>C (p.Tyr619=)
c.1836T>C (p.Tyr612=)
c.1557T>C (p.Tyr519=)
c.1530T>C (p.Tyr510=)
c.1881T>C (p.Tyr627=)
COSMIC COSMIC
2g.162435295A>TCA349220859KCNH7c.1857T>A (p.Tyr619Ter)
c.1836T>A (p.Tyr612Ter)
c.1557T>A (p.Tyr519Ter)
c.1530T>A (p.Tyr510Ter)
c.1881T>A (p.Tyr627Ter)
2g.162435296T>ACA349220862KCNH7c.1856A>T (p.Tyr619Phe)
c.1835A>T (p.Tyr612Phe)
c.1556A>T (p.Tyr519Phe)
c.1529A>T (p.Tyr510Phe)
c.1880A>T (p.Tyr627Phe)
2g.162435296T>CCA349220861KCNH7c.1856A>G (p.Tyr619Cys)
c.1835A>G (p.Tyr612Cys)
c.1556A>G (p.Tyr519Cys)
c.1529A>G (p.Tyr510Cys)
c.1880A>G (p.Tyr627Cys)
2g.162435296T>GCA349220860KCNH7c.1856A>C (p.Tyr619Ser)
c.1835A>C (p.Tyr612Ser)
c.1556A>C (p.Tyr519Ser)
c.1529A>C (p.Tyr510Ser)
c.1880A>C (p.Tyr627Ser)
2g.162435296_162435297delinsTACA1303221225KCNH7c.1855_1856delinsTA (p.Tyr619=)
c.1834_1835delinsTA (p.Tyr612=)
c.1555_1556delinsTA (p.Tyr519=)
c.1528_1529delinsTA (p.Tyr510=)
c.1879_1880delinsTA (p.Tyr627=)
2g.162435297A>CCA349220863KCNH7c.1855T>G (p.Tyr619Asp)
c.1834T>G (p.Tyr612Asp)
c.1555T>G (p.Tyr519Asp)
c.1528T>G (p.Tyr510Asp)
c.1879T>G (p.Tyr627Asp)
2g.162435297A>GCA349220864KCNH7c.1855T>C (p.Tyr619His)
c.1834T>C (p.Tyr612His)
c.1555T>C (p.Tyr519His)
c.1528T>C (p.Tyr510His)
c.1879T>C (p.Tyr627His)
2g.162435297A>TCA349220865KCNH7c.1855T>A (p.Tyr619Asn)
c.1834T>A (p.Tyr612Asn)
c.1555T>A (p.Tyr519Asn)
c.1528T>A (p.Tyr510Asn)
c.1879T>A (p.Tyr627Asn)
2g.162435299delCA537510005KCNH7c.1855del (p.Tyr619IlefsTer7)
c.1834del (p.Tyr612IlefsTer7)
c.1555del (p.Tyr519IlefsTer7)
c.1528del (p.Tyr510IlefsTer7)
c.1879del (p.Tyr627IlefsTer7)
dbSNP gnomAD v2
2g.162435298A>CCA429731674KCNH7c.1854T>G (p.Leu618=)
c.1833T>G (p.Leu611=)
c.1554T>G (p.Leu518=)
c.1527T>G (p.Leu509=)
c.1878T>G (p.Leu626=)
2g.162435298A>GCA429731673KCNH7c.1854T>C (p.Leu618=)
c.1833T>C (p.Leu611=)
c.1554T>C (p.Leu518=)
c.1527T>C (p.Leu509=)
c.1878T>C (p.Leu626=)
2g.162435298A>TCA429731672KCNH7c.1854T>A (p.Leu618=)
c.1833T>A (p.Leu611=)
c.1554T>A (p.Leu518=)
c.1527T>A (p.Leu509=)
c.1878T>A (p.Leu626=)
2g.162435299A>CCA349220866KCNH7c.1853T>G (p.Leu618Arg)
c.1832T>G (p.Leu611Arg)
c.1553T>G (p.Leu518Arg)
c.1526T>G (p.Leu509Arg)
c.1877T>G (p.Leu626Arg)
2g.162435299A>GCA349220867KCNH7c.1853T>C (p.Leu618Pro)
c.1832T>C (p.Leu611Pro)
c.1553T>C (p.Leu518Pro)
c.1526T>C (p.Leu509Pro)
c.1877T>C (p.Leu626Pro)
2g.162435299A>TCA349220868KCNH7c.1853T>A (p.Leu618His)
c.1832T>A (p.Leu611His)
c.1553T>A (p.Leu518His)
c.1526T>A (p.Leu509His)
c.1877T>A (p.Leu626His)
2g.162435300G>ACA349220871KCNH7c.1852C>T (p.Leu618Phe)
c.1831C>T (p.Leu611Phe)
c.1552C>T (p.Leu518Phe)
c.1525C>T (p.Leu509Phe)
c.1876C>T (p.Leu626Phe)
2g.162435300G>CCA349220870KCNH7c.1852C>G (p.Leu618Val)
c.1831C>G (p.Leu611Val)
c.1552C>G (p.Leu518Val)
c.1525C>G (p.Leu509Val)
c.1876C>G (p.Leu626Val)
2g.162435300G>TCA349220869KCNH7c.1852C>A (p.Leu618Ile)
c.1831C>A (p.Leu611Ile)
c.1552C>A (p.Leu518Ile)
c.1525C>A (p.Leu509Ile)
c.1876C>A (p.Leu626Ile)
2g.162435301T>ACA429731677KCNH7c.1851A>T (p.Ala617=)
c.1830A>T (p.Ala610=)
c.1551A>T (p.Ala517=)
c.1524A>T (p.Ala508=)
c.1875A>T (p.Ala625=)
2g.162435301T>CCA429731678KCNH7c.1851A>G (p.Ala617=)
c.1830A>G (p.Ala610=)
c.1551A>G (p.Ala517=)
c.1524A>G (p.Ala508=)
c.1875A>G (p.Ala625=)
gnomAD v4
2g.162435301T>GCA429731679KCNH7c.1851A>C (p.Ala617=)
c.1830A>C (p.Ala610=)
c.1551A>C (p.Ala517=)
c.1524A>C (p.Ala508=)
c.1875A>C (p.Ala625=)
2g.162435302G>ACA349220872KCNH7c.1850C>T (p.Ala617Val)
c.1829C>T (p.Ala610Val)
c.1550C>T (p.Ala517Val)
c.1523C>T (p.Ala508Val)
c.1874C>T (p.Ala625Val)
2g.162435302G>CCA349220873KCNH7c.1850C>G (p.Ala617Gly)
c.1829C>G (p.Ala610Gly)
c.1550C>G (p.Ala517Gly)
c.1523C>G (p.Ala508Gly)
c.1874C>G (p.Ala625Gly)
2g.162435302G>TCA349220874KCNH7c.1850C>A (p.Ala617Glu)
c.1829C>A (p.Ala610Glu)
c.1550C>A (p.Ala517Glu)
c.1523C>A (p.Ala508Glu)
c.1874C>A (p.Ala625Glu)
2g.162435303C>ACA349220875KCNH7c.1849G>T (p.Ala617Ser)
c.1828G>T (p.Ala610Ser)
c.1549G>T (p.Ala517Ser)
c.1522G>T (p.Ala508Ser)
c.1873G>T (p.Ala625Ser)
2g.162435303C>GCA349220876KCNH7c.1849G>C (p.Ala617Pro)
c.1828G>C (p.Ala610Pro)
c.1549G>C (p.Ala517Pro)
c.1522G>C (p.Ala508Pro)
c.1873G>C (p.Ala625Pro)
2g.162435303C>TCA349220877KCNH7c.1849G>A (p.Ala617Thr)
c.1828G>A (p.Ala610Thr)
c.1549G>A (p.Ala517Thr)
c.1522G>A (p.Ala508Thr)
c.1873G>A (p.Ala625Thr)
COSMIC COSMIC
2g.162435304T>ACA429731680KCNH7c.1848A>T (p.Thr616=)
c.1827A>T (p.Thr609=)
c.1548A>T (p.Thr516=)
c.1521A>T (p.Thr507=)
c.1872A>T (p.Thr624=)
2g.162435304T>CCA59809326KCNH7c.1848A>G (p.Thr616=)
c.1827A>G (p.Thr609=)
c.1548A>G (p.Thr516=)
c.1521A>G (p.Thr507=)
c.1872A>G (p.Thr624=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435304T>GCA429731681KCNH7c.1848A>C (p.Thr616=)
c.1827A>C (p.Thr609=)
c.1548A>C (p.Thr516=)
c.1521A>C (p.Thr507=)
c.1872A>C (p.Thr624=)
dbSNP
2g.162435304T=CA1303221230KCNH7c.1848A= (p.Thr616=)
c.1827A= (p.Thr609=)
c.1548A= (p.Thr516=)
c.1521A= (p.Thr507=)
c.1872A= (p.Thr624=)
2g.162435305G>ACA349220878KCNH7c.1847C>T (p.Thr616Ile)
c.1826C>T (p.Thr609Ile)
c.1547C>T (p.Thr516Ile)
c.1520C>T (p.Thr507Ile)
c.1871C>T (p.Thr624Ile)
2g.162435305G>CCA349220880KCNH7c.1847C>G (p.Thr616Arg)
c.1826C>G (p.Thr609Arg)
c.1547C>G (p.Thr516Arg)
c.1520C>G (p.Thr507Arg)
c.1871C>G (p.Thr624Arg)
2g.162435305G>TCA349220879KCNH7c.1847C>A (p.Thr616Lys)
c.1826C>A (p.Thr609Lys)
c.1547C>A (p.Thr516Lys)
c.1520C>A (p.Thr507Lys)
c.1871C>A (p.Thr624Lys)
2g.162435306T>ACA349220881KCNH7c.1846A>T (p.Thr616Ser)
c.1825A>T (p.Thr609Ser)
c.1546A>T (p.Thr516Ser)
c.1519A>T (p.Thr507Ser)
c.1870A>T (p.Thr624Ser)
2g.162435306T>CCA349220882KCNH7c.1846A>G (p.Thr616Ala)
c.1825A>G (p.Thr609Ala)
c.1546A>G (p.Thr516Ala)
c.1519A>G (p.Thr507Ala)
c.1870A>G (p.Thr624Ala)
2g.162435306T>GCA349220883KCNH7c.1846A>C (p.Thr616Pro)
c.1825A>C (p.Thr609Pro)
c.1546A>C (p.Thr516Pro)
c.1519A>C (p.Thr507Pro)
c.1870A>C (p.Thr624Pro)
2g.162435307G>ACA429731685KCNH7c.1845C>T (p.Val615=)
c.1824C>T (p.Val608=)
c.1545C>T (p.Val515=)
c.1518C>T (p.Val506=)
c.1869C>T (p.Val623=)
gnomAD v4
2g.162435307G>CCA429731686KCNH7c.1845C>G (p.Val615=)
c.1824C>G (p.Val608=)
c.1545C>G (p.Val515=)
c.1518C>G (p.Val506=)
c.1869C>G (p.Val623=)
2g.162435307G>TCA429731687KCNH7c.1845C>A (p.Val615=)
c.1824C>A (p.Val608=)
c.1545C>A (p.Val515=)
c.1518C>A (p.Val506=)
c.1869C>A (p.Val623=)
2g.162435308A>CCA349220884KCNH7c.1844T>G (p.Val615Gly)
c.1823T>G (p.Val608Gly)
c.1544T>G (p.Val515Gly)
c.1517T>G (p.Val506Gly)
c.1868T>G (p.Val623Gly)
2g.162435308A>GCA349220885KCNH7c.1844T>C (p.Val615Ala)
c.1823T>C (p.Val608Ala)
c.1544T>C (p.Val515Ala)
c.1517T>C (p.Val506Ala)
c.1868T>C (p.Val623Ala)
dbSNP
2g.162435308A>TCA349220886KCNH7c.1844T>A (p.Val615Asp)
c.1823T>A (p.Val608Asp)
c.1544T>A (p.Val515Asp)
c.1517T>A (p.Val506Asp)
c.1868T>A (p.Val623Asp)
2g.162435309C>ACA349220887KCNH7c.1843G>T (p.Val615Phe)
c.1822G>T (p.Val608Phe)
c.1543G>T (p.Val515Phe)
c.1516G>T (p.Val506Phe)
c.1867G>T (p.Val623Phe)
gnomAD v4 COSMIC COSMIC
2g.162435309C>GCA349220888KCNH7c.1843G>C (p.Val615Leu)
c.1822G>C (p.Val608Leu)
c.1543G>C (p.Val515Leu)
c.1516G>C (p.Val506Leu)
c.1867G>C (p.Val623Leu)
gnomAD v4
2g.162435309C>TCA349220889KCNH7c.1843G>A (p.Val615Ile)
c.1822G>A (p.Val608Ile)
c.1543G>A (p.Val515Ile)
c.1516G>A (p.Val506Ile)
c.1867G>A (p.Val623Ile)
gnomAD v4
2g.162435310G>ACA1935616KCNH7c.1842C>T (p.Tyr614=)
c.1821C>T (p.Tyr607=)
c.1542C>T (p.Tyr514=)
c.1515C>T (p.Tyr505=)
c.1866C>T (p.Tyr622=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.162435310G>CCA349220890KCNH7c.1842C>G (p.Tyr614Ter)
c.1821C>G (p.Tyr607Ter)
c.1542C>G (p.Tyr514Ter)
c.1515C>G (p.Tyr505Ter)
c.1866C>G (p.Tyr622Ter)
2g.162435310G=CA1303221235KCNH7c.1842C= (p.Tyr614=)
c.1821C= (p.Tyr607=)
c.1542C= (p.Tyr514=)
c.1515C= (p.Tyr505=)
c.1866C= (p.Tyr622=)
2g.162435310G>TCA349220891KCNH7c.1842C>A (p.Tyr614Ter)
c.1821C>A (p.Tyr607Ter)
c.1542C>A (p.Tyr514Ter)
c.1515C>A (p.Tyr505Ter)
c.1866C>A (p.Tyr622Ter)
2g.162435311T>ACA349220892KCNH7c.1841A>T (p.Tyr614Phe)
c.1820A>T (p.Tyr607Phe)
c.1541A>T (p.Tyr514Phe)
c.1514A>T (p.Tyr505Phe)
c.1865A>T (p.Tyr622Phe)
2g.162435311T>CCA349220894KCNH7c.1841A>G (p.Tyr614Cys)
c.1820A>G (p.Tyr607Cys)
c.1541A>G (p.Tyr514Cys)
c.1514A>G (p.Tyr505Cys)
c.1865A>G (p.Tyr622Cys)
2g.162435311T>GCA349220893KCNH7c.1841A>C (p.Tyr614Ser)
c.1820A>C (p.Tyr607Ser)
c.1541A>C (p.Tyr514Ser)
c.1514A>C (p.Tyr505Ser)
c.1865A>C (p.Tyr622Ser)
2g.162435312A>CCA349220895KCNH7c.1840T>G (p.Tyr614Asp)
c.1819T>G (p.Tyr607Asp)
c.1540T>G (p.Tyr514Asp)
c.1513T>G (p.Tyr505Asp)
c.1864T>G (p.Tyr622Asp)
2g.162435312A>GCA349220896KCNH7c.1840T>C (p.Tyr614His)
c.1819T>C (p.Tyr607His)
c.1540T>C (p.Tyr514His)
c.1513T>C (p.Tyr505His)
c.1864T>C (p.Tyr622His)
2g.162435312A>TCA349220897KCNH7c.1840T>A (p.Tyr614Asn)
c.1819T>A (p.Tyr607Asn)
c.1540T>A (p.Tyr514Asn)
c.1513T>A (p.Tyr505Asn)
c.1864T>A (p.Tyr622Asn)
2g.162435313T>ACA349220898KCNH7c.1839A>T (p.Lys613Asn)
c.1818A>T (p.Lys606Asn)
c.1539A>T (p.Lys513Asn)
c.1512A>T (p.Lys504Asn)
c.1863A>T (p.Lys621Asn)
2g.162435313T>CCA429731691KCNH7c.1839A>G (p.Lys613=)
c.1818A>G (p.Lys606=)
c.1539A>G (p.Lys513=)
c.1512A>G (p.Lys504=)
c.1863A>G (p.Lys621=)
2g.162435313T>GCA349220899KCNH7c.1839A>C (p.Lys613Asn)
c.1818A>C (p.Lys606Asn)
c.1539A>C (p.Lys513Asn)
c.1512A>C (p.Lys504Asn)
c.1863A>C (p.Lys621Asn)
2g.162435314T>ACA349220902KCNH7c.1838A>T (p.Lys613Ile)
c.1817A>T (p.Lys606Ile)
c.1538A>T (p.Lys513Ile)
c.1511A>T (p.Lys504Ile)
c.1862A>T (p.Lys621Ile)
2g.162435314T>CCA349220901KCNH7c.1838A>G (p.Lys613Arg)
c.1817A>G (p.Lys606Arg)
c.1538A>G (p.Lys513Arg)
c.1511A>G (p.Lys504Arg)
c.1862A>G (p.Lys621Arg)
2g.162435314T>GCA349220900KCNH7c.1838A>C (p.Lys613Thr)
c.1817A>C (p.Lys606Thr)
c.1538A>C (p.Lys513Thr)
c.1511A>C (p.Lys504Thr)
c.1862A>C (p.Lys621Thr)

Number of alleles fetched