Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.162435177A>GCA2577140039KCNH7c.1954+21T>C (n.1954+21T>C)
c.1933+21T>C (n.1933+21T>C)
c.1654+21T>C (n.1654+21T>C)
c.1627+21T>C (n.1627+21T>C)
c.1978+21T>C (n.1978+21T>C)
gnomAD v4
2g.162435178C>ACA59809300KCNH7c.1954+20G>T (n.1954+20G>T)
c.1933+20G>T (n.1933+20G>T)
c.1654+20G>T (n.1654+20G>T)
c.1627+20G>T (n.1627+20G>T)
c.1978+20G>T (n.1978+20G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435178C=CA1303221152KCNH7c.1954+20G= (n.1954+20G=)
c.1933+20G= (n.1933+20G=)
c.1654+20G= (n.1654+20G=)
c.1627+20G= (n.1627+20G=)
c.1978+20G= (n.1978+20G=)
2g.162435178C>TCA759835004KCNH7c.1954+20G>A (n.1954+20G>A)
c.1933+20G>A (n.1933+20G>A)
c.1654+20G>A (n.1654+20G>A)
c.1627+20G>A (n.1627+20G>A)
c.1978+20G>A (n.1978+20G>A)
dbSNP gnomAD v3 gnomAD v4
2g.162435179A>GCA2700919213KCNH7c.1954+19T>C (n.1954+19T>C)
c.1933+19T>C (n.1933+19T>C)
c.1654+19T>C (n.1654+19T>C)
c.1627+19T>C (n.1627+19T>C)
c.1978+19T>C (n.1978+19T>C)
dbSNP
2g.162435180G>ACA2517038537KCNH7c.1954+18C>T (n.1954+18C>T)
c.1933+18C>T (n.1933+18C>T)
c.1654+18C>T (n.1654+18C>T)
c.1627+18C>T (n.1627+18C>T)
c.1978+18C>T (n.1978+18C>T)
gnomAD v4
2g.162435180G>TCA2661696320KCNH7c.1954+18C>A (n.1954+18C>A)
c.1933+18C>A (n.1933+18C>A)
c.1654+18C>A (n.1654+18C>A)
c.1627+18C>A (n.1627+18C>A)
c.1978+18C>A (n.1978+18C>A)
gnomAD v4
2g.162435182delCA2577140040KCNH7c.1954+17del (n.1954+17del)
c.1933+17del (n.1933+17del)
c.1654+17del (n.1654+17del)
c.1627+17del (n.1627+17del)
c.1978+17del (n.1978+17del)
2g.162435186A>GCA2661696321KCNH7c.1954+12T>C (n.1954+12T>C)
c.1933+12T>C (n.1933+12T>C)
c.1654+12T>C (n.1654+12T>C)
c.1627+12T>C (n.1627+12T>C)
c.1978+12T>C (n.1978+12T>C)
gnomAD v4
2g.162435188A=CA1303221156KCNH7c.1954+10T= (n.1954+10T=)
c.1933+10T= (n.1933+10T=)
c.1654+10T= (n.1654+10T=)
c.1627+10T= (n.1627+10T=)
c.1978+10T= (n.1978+10T=)
2g.162435189G>ACA537509995KCNH7c.1954+9C>T (n.1954+9C>T)
c.1933+9C>T (n.1933+9C>T)
c.1654+9C>T (n.1654+9C>T)
c.1627+9C>T (n.1627+9C>T)
c.1978+9C>T (n.1978+9C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.162435189G=CA1303221159KCNH7c.1954+9C= (n.1954+9C=)
c.1933+9C= (n.1933+9C=)
c.1654+9C= (n.1654+9C=)
c.1627+9C= (n.1627+9C=)
c.1978+9C= (n.1978+9C=)
2g.162435189G>TCA2561001832KCNH7c.1954+9C>A (n.1954+9C>A)
c.1933+9C>A (n.1933+9C>A)
c.1654+9C>A (n.1654+9C>A)
c.1627+9C>A (n.1627+9C>A)
c.1978+9C>A (n.1978+9C>A)
2g.162435189dupCA1935608KCNH7c.1954+9dup (n.1954+9dup)
c.1933+9dup (n.1933+9dup)
c.1654+9dup (n.1654+9dup)
c.1627+9dup (n.1627+9dup)
c.1978+9dup (n.1978+9dup)
dbSNP ExAC gnomAD v2
2g.162435190C>TCA2577140041KCNH7c.1954+8G>A (n.1954+8G>A)
c.1933+8G>A (n.1933+8G>A)
c.1654+8G>A (n.1654+8G>A)
c.1627+8G>A (n.1627+8G>A)
c.1978+8G>A (n.1978+8G>A)
c.1986G>A (p.Ter662=)
2g.162435191T>GCA537509996KCNH7c.1954+7A>C (n.1954+7A>C)
c.1933+7A>C (n.1933+7A>C)
c.1654+7A>C (n.1654+7A>C)
c.1627+7A>C (n.1627+7A>C)
c.1978+7A>C (n.1978+7A>C)
c.1985A>C (p.Ter662Ser)
dbSNP gnomAD v2 gnomAD v4
2g.162435191T=CA1303221161KCNH7c.1954+7A= (n.1954+7A=)
c.1933+7A= (n.1933+7A=)
c.1654+7A= (n.1654+7A=)
c.1627+7A= (n.1627+7A=)
c.1978+7A= (n.1978+7A=)
c.1985A= (p.Ter662=)
2g.162435193C=CA1303221163KCNH7c.1954+5G= (n.1954+5G=)
c.1933+5G= (n.1933+5G=)
c.1654+5G= (n.1654+5G=)
c.1627+5G= (n.1627+5G=)
c.1978+5G= (n.1978+5G=)
c.1983G= (p.Lys661=)
2g.162435193C>TCA1935609KCNH7c.1954+5G>A (n.1954+5G>A)
c.1933+5G>A (n.1933+5G>A)
c.1654+5G>A (n.1654+5G>A)
c.1627+5G>A (n.1627+5G>A)
c.1978+5G>A (n.1978+5G>A)
c.1983G>A (p.Lys661=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435196A>CCA349220626KCNH7c.1954+2T>G (n.1954+2T>G)
c.1933+2T>G (n.1933+2T>G)
c.1654+2T>G (n.1654+2T>G)
c.1627+2T>G (n.1627+2T>G)
c.1978+2T>G (n.1978+2T>G)
c.1980T>G (p.Cys660Trp)
2g.162435196A>GCA349220627KCNH7c.1954+2T>C (n.1954+2T>C)
c.1933+2T>C (n.1933+2T>C)
c.1654+2T>C (n.1654+2T>C)
c.1627+2T>C (n.1627+2T>C)
c.1978+2T>C (n.1978+2T>C)
c.1980T>C (p.Cys660=)
2g.162435196A>TCA349220628KCNH7c.1954+2T>A (n.1954+2T>A)
c.1933+2T>A (n.1933+2T>A)
c.1654+2T>A (n.1654+2T>A)
c.1627+2T>A (n.1627+2T>A)
c.1978+2T>A (n.1978+2T>A)
c.1980T>A (p.Cys660Ter)
2g.162435197_162435198delCA2577140042KCNH7c.1954+1_1954+2del
c.1933+1_1933+2del
c.1654+1_1654+2del
c.1627+1_1627+2del
c.1978+1_1978+2del
c.1979_1980del (p.Cys660Ter)
2g.162435197C>ACA349220631KCNH7c.1954+1G>T (n.1954+1G>T)
c.1933+1G>T (n.1933+1G>T)
c.1654+1G>T (n.1654+1G>T)
c.1627+1G>T (n.1627+1G>T)
c.1978+1G>T (n.1978+1G>T)
c.1979G>T (p.Cys660Phe)
2g.162435197C>GCA349220629KCNH7c.1954+1G>C (n.1954+1G>C)
c.1933+1G>C (n.1933+1G>C)
c.1654+1G>C (n.1654+1G>C)
c.1627+1G>C (n.1627+1G>C)
c.1978+1G>C (n.1978+1G>C)
c.1979G>C (p.Cys660Ser)
2g.162435197C>TCA349220630KCNH7c.1954+1G>A (n.1954+1G>A)
c.1933+1G>A (n.1933+1G>A)
c.1654+1G>A (n.1654+1G>A)
c.1627+1G>A (n.1627+1G>A)
c.1978+1G>A (n.1978+1G>A)
c.1979G>A (p.Cys660Tyr)
2g.162435198A>CCA349220632KCNH7c.1954T>G (p.Ser652Ala)
c.1933T>G (p.Ser645Ala)
c.1654T>G (p.Ser552Ala)
c.1627T>G (p.Ser543Ala)
c.1978T>G (p.Ser660Ala)
c.1978T>G (p.Cys660Gly)
2g.162435198A>GCA349220633KCNH7c.1954T>C (p.Ser652Pro)
c.1933T>C (p.Ser645Pro)
c.1654T>C (p.Ser552Pro)
c.1627T>C (p.Ser543Pro)
c.1978T>C (p.Ser660Pro)
c.1978T>C (p.Cys660Arg)
2g.162435198A>TCA349220634KCNH7c.1954T>A (p.Ser652Thr)
c.1933T>A (p.Ser645Thr)
c.1654T>A (p.Ser552Thr)
c.1627T>A (p.Ser543Thr)
c.1978T>A (p.Ser660Thr)
c.1978T>A (p.Cys660Ser)
2g.162435199G>ACA429731466KCNH7c.1953C>T (p.Gly651=)
c.1932C>T (p.Gly644=)
c.1653C>T (p.Gly551=)
c.1626C>T (p.Gly542=)
c.1977C>T (p.Gly659=)
COSMIC COSMIC
2g.162435199G>CCA429731468KCNH7c.1953C>G (p.Gly651=)
c.1932C>G (p.Gly644=)
c.1653C>G (p.Gly551=)
c.1626C>G (p.Gly542=)
c.1977C>G (p.Gly659=)
dbSNP gnomAD v2 gnomAD v4
2g.162435199G=CA1303221166KCNH7c.1953C= (p.Gly651=)
c.1932C= (p.Gly644=)
c.1653C= (p.Gly551=)
c.1626C= (p.Gly542=)
c.1977C= (p.Gly659=)
2g.162435199G>TCA429731467KCNH7c.1953C>A (p.Gly651=)
c.1932C>A (p.Gly644=)
c.1653C>A (p.Gly551=)
c.1626C>A (p.Gly542=)
c.1977C>A (p.Gly659=)
2g.162435200C>ACA349220635KCNH7c.1952G>T (p.Gly651Val)
c.1931G>T (p.Gly644Val)
c.1652G>T (p.Gly551Val)
c.1625G>T (p.Gly542Val)
c.1976G>T (p.Gly659Val)
2g.162435200C>GCA349220636KCNH7c.1952G>C (p.Gly651Ala)
c.1931G>C (p.Gly644Ala)
c.1652G>C (p.Gly551Ala)
c.1625G>C (p.Gly542Ala)
c.1976G>C (p.Gly659Ala)
2g.162435200C>TCA349220637KCNH7c.1952G>A (p.Gly651Asp)
c.1931G>A (p.Gly644Asp)
c.1652G>A (p.Gly551Asp)
c.1625G>A (p.Gly542Asp)
c.1976G>A (p.Gly659Asp)
COSMIC COSMIC
2g.162435201C>ACA349220638KCNH7c.1951G>T (p.Gly651Cys)
c.1930G>T (p.Gly644Cys)
c.1651G>T (p.Gly551Cys)
c.1624G>T (p.Gly542Cys)
c.1975G>T (p.Gly659Cys)
2g.162435201C=CA1303221168KCNH7c.1951G= (p.Gly651=)
c.1930G= (p.Gly644=)
c.1651G= (p.Gly551=)
c.1624G= (p.Gly542=)
c.1975G= (p.Gly659=)
2g.162435201C>GCA349220639KCNH7c.1951G>C (p.Gly651Arg)
c.1930G>C (p.Gly644Arg)
c.1651G>C (p.Gly551Arg)
c.1624G>C (p.Gly542Arg)
c.1975G>C (p.Gly659Arg)
2g.162435201C>TCA1935610KCNH7c.1951G>A (p.Gly651Ser)
c.1930G>A (p.Gly644Ser)
c.1651G>A (p.Gly551Ser)
c.1624G>A (p.Gly542Ser)
c.1975G>A (p.Gly659Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.162435202A>CCA349220640KCNH7c.1950T>G (p.Ile650Met)
c.1929T>G (p.Ile643Met)
c.1650T>G (p.Ile550Met)
c.1623T>G (p.Ile541Met)
c.1974T>G (p.Ile658Met)
2g.162435202A>GCA429731472KCNH7c.1950T>C (p.Ile650=)
c.1929T>C (p.Ile643=)
c.1650T>C (p.Ile550=)
c.1623T>C (p.Ile541=)
c.1974T>C (p.Ile658=)
2g.162435202A>TCA429731474KCNH7c.1950T>A (p.Ile650=)
c.1929T>A (p.Ile643=)
c.1650T>A (p.Ile550=)
c.1623T>A (p.Ile541=)
c.1974T>A (p.Ile658=)
2g.162435203A>CCA349220641KCNH7c.1949T>G (p.Ile650Ser)
c.1928T>G (p.Ile643Ser)
c.1649T>G (p.Ile550Ser)
c.1622T>G (p.Ile541Ser)
c.1973T>G (p.Ile658Ser)
2g.162435203A>GCA349220642KCNH7c.1949T>C (p.Ile650Thr)
c.1928T>C (p.Ile643Thr)
c.1649T>C (p.Ile550Thr)
c.1622T>C (p.Ile541Thr)
c.1973T>C (p.Ile658Thr)
gnomAD v4
2g.162435203A>TCA349220643KCNH7c.1949T>A (p.Ile650Asn)
c.1928T>A (p.Ile643Asn)
c.1649T>A (p.Ile550Asn)
c.1622T>A (p.Ile541Asn)
c.1973T>A (p.Ile658Asn)
2g.162435204T>ACA349220644KCNH7c.1948A>T (p.Ile650Phe)
c.1927A>T (p.Ile643Phe)
c.1648A>T (p.Ile550Phe)
c.1621A>T (p.Ile541Phe)
c.1972A>T (p.Ile658Phe)
2g.162435204T>CCA349220646KCNH7c.1948A>G (p.Ile650Val)
c.1927A>G (p.Ile643Val)
c.1648A>G (p.Ile550Val)
c.1621A>G (p.Ile541Val)
c.1972A>G (p.Ile658Val)
2g.162435204T>GCA349220645KCNH7c.1948A>C (p.Ile650Leu)
c.1927A>C (p.Ile643Leu)
c.1648A>C (p.Ile550Leu)
c.1621A>C (p.Ile541Leu)
c.1972A>C (p.Ile658Leu)
2g.162435205C>ACA349220647KCNH7c.1947G>T (p.Leu649Phe)
c.1926G>T (p.Leu642Phe)
c.1647G>T (p.Leu549Phe)
c.1620G>T (p.Leu540Phe)
c.1971G>T (p.Leu657Phe)
2g.162435205C=CA1303221172KCNH7c.1947G= (p.Leu649=)
c.1926G= (p.Leu642=)
c.1647G= (p.Leu549=)
c.1620G= (p.Leu540=)
c.1971G= (p.Leu657=)
2g.162435205C>GCA349220648KCNH7c.1947G>C (p.Leu649Phe)
c.1926G>C (p.Leu642Phe)
c.1647G>C (p.Leu549Phe)
c.1620G>C (p.Leu540Phe)
c.1971G>C (p.Leu657Phe)
2g.162435205C>TCA429731559KCNH7c.1947G>A (p.Leu649=)
c.1926G>A (p.Leu642=)
c.1647G>A (p.Leu549=)
c.1620G>A (p.Leu540=)
c.1971G>A (p.Leu657=)
dbSNP gnomAD v4
2g.162435206A>CCA349220649KCNH7c.1946T>G (p.Leu649Trp)
c.1925T>G (p.Leu642Trp)
c.1646T>G (p.Leu549Trp)
c.1619T>G (p.Leu540Trp)
c.1970T>G (p.Leu657Trp)
2g.162435206A>GCA349220650KCNH7c.1946T>C (p.Leu649Ser)
c.1925T>C (p.Leu642Ser)
c.1646T>C (p.Leu549Ser)
c.1619T>C (p.Leu540Ser)
c.1970T>C (p.Leu657Ser)
2g.162435206A>TCA349220651KCNH7c.1946T>A (p.Leu649Ter)
c.1925T>A (p.Leu642Ter)
c.1646T>A (p.Leu549Ter)
c.1619T>A (p.Leu540Ter)
c.1970T>A (p.Leu657Ter)
2g.162435207A>CCA349220652KCNH7c.1945T>G (p.Leu649Val)
c.1924T>G (p.Leu642Val)
c.1645T>G (p.Leu549Val)
c.1618T>G (p.Leu540Val)
c.1969T>G (p.Leu657Val)
2g.162435207A>GCA429731560KCNH7c.1945T>C (p.Leu649=)
c.1924T>C (p.Leu642=)
c.1645T>C (p.Leu549=)
c.1618T>C (p.Leu540=)
c.1969T>C (p.Leu657=)
2g.162435207A>TCA349220653KCNH7c.1945T>A (p.Leu649Met)
c.1924T>A (p.Leu642Met)
c.1645T>A (p.Leu549Met)
c.1618T>A (p.Leu540Met)
c.1969T>A (p.Leu657Met)
2g.162435208C>ACA349220654KCNH7c.1944G>T (p.Met648Ile)
c.1923G>T (p.Met641Ile)
c.1644G>T (p.Met548Ile)
c.1617G>T (p.Met539Ile)
c.1968G>T (p.Met656Ile)
2g.162435208C>GCA349220655KCNH7c.1944G>C (p.Met648Ile)
c.1923G>C (p.Met641Ile)
c.1644G>C (p.Met548Ile)
c.1617G>C (p.Met539Ile)
c.1968G>C (p.Met656Ile)
2g.162435208C>TCA349220656KCNH7c.1944G>A (p.Met648Ile)
c.1923G>A (p.Met641Ile)
c.1644G>A (p.Met548Ile)
c.1617G>A (p.Met539Ile)
c.1968G>A (p.Met656Ile)
2g.162435209A>CCA349220657KCNH7c.1943T>G (p.Met648Arg)
c.1922T>G (p.Met641Arg)
c.1643T>G (p.Met548Arg)
c.1616T>G (p.Met539Arg)
c.1967T>G (p.Met656Arg)
2g.162435209A>GCA349220658KCNH7c.1943T>C (p.Met648Thr)
c.1922T>C (p.Met641Thr)
c.1643T>C (p.Met548Thr)
c.1616T>C (p.Met539Thr)
c.1967T>C (p.Met656Thr)
2g.162435209A>TCA349220659KCNH7c.1943T>A (p.Met648Lys)
c.1922T>A (p.Met641Lys)
c.1643T>A (p.Met548Lys)
c.1616T>A (p.Met539Lys)
c.1967T>A (p.Met656Lys)
2g.162435210T>ACA349220660KCNH7c.1942A>T (p.Met648Leu)
c.1921A>T (p.Met641Leu)
c.1642A>T (p.Met548Leu)
c.1615A>T (p.Met539Leu)
c.1966A>T (p.Met656Leu)
2g.162435210T>CCA349220662KCNH7c.1942A>G (p.Met648Val)
c.1921A>G (p.Met641Val)
c.1642A>G (p.Met548Val)
c.1615A>G (p.Met539Val)
c.1966A>G (p.Met656Val)
2g.162435210T>GCA349220661KCNH7c.1942A>C (p.Met648Leu)
c.1921A>C (p.Met641Leu)
c.1642A>C (p.Met548Leu)
c.1615A>C (p.Met539Leu)
c.1966A>C (p.Met656Leu)
2g.162435211G>ACA429731561KCNH7c.1941C>T (p.Val647=)
c.1920C>T (p.Val640=)
c.1641C>T (p.Val547=)
c.1614C>T (p.Val538=)
c.1965C>T (p.Val655=)
2g.162435211G>CCA429731562KCNH7c.1941C>G (p.Val647=)
c.1920C>G (p.Val640=)
c.1641C>G (p.Val547=)
c.1614C>G (p.Val538=)
c.1965C>G (p.Val655=)
gnomAD v4
2g.162435211G>TCA429731563KCNH7c.1941C>A (p.Val647=)
c.1920C>A (p.Val640=)
c.1641C>A (p.Val547=)
c.1614C>A (p.Val538=)
c.1965C>A (p.Val655=)
2g.162435212A>CCA349220663KCNH7c.1940T>G (p.Val647Gly)
c.1919T>G (p.Val640Gly)
c.1640T>G (p.Val547Gly)
c.1613T>G (p.Val538Gly)
c.1964T>G (p.Val655Gly)
2g.162435212A>GCA349220664KCNH7c.1940T>C (p.Val647Ala)
c.1919T>C (p.Val640Ala)
c.1640T>C (p.Val547Ala)
c.1613T>C (p.Val538Ala)
c.1964T>C (p.Val655Ala)
2g.162435212A>TCA349220665KCNH7c.1940T>A (p.Val647Asp)
c.1919T>A (p.Val640Asp)
c.1640T>A (p.Val547Asp)
c.1613T>A (p.Val538Asp)
c.1964T>A (p.Val655Asp)
COSMIC
2g.162435213C>ACA349220666KCNH7c.1939G>T (p.Val647Phe)
c.1918G>T (p.Val640Phe)
c.1639G>T (p.Val547Phe)
c.1612G>T (p.Val538Phe)
c.1963G>T (p.Val655Phe)
2g.162435213C>GCA349220667KCNH7c.1939G>C (p.Val647Leu)
c.1918G>C (p.Val640Leu)
c.1639G>C (p.Val547Leu)
c.1612G>C (p.Val538Leu)
c.1963G>C (p.Val655Leu)
2g.162435213C>TCA349220668KCNH7c.1939G>A (p.Val647Ile)
c.1918G>A (p.Val640Ile)
c.1639G>A (p.Val547Ile)
c.1612G>A (p.Val538Ile)
c.1963G>A (p.Val655Ile)
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)

Number of alleles fetched