Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53985085A>CCA413252557PHF8c.1969T>G (p.Ser657Ala)
c.2272T>G (p.Ser758Ala)
c.*727T>G (n.*727T>G)
c.*1714T>G (n.*1714T>G)
n.1636T>G
c.2221T>G (p.Ser741Ala)
c.2380T>G (p.Ser794Ala)
c.1983T>G
c.1562T>G
c.699T>G (p.Ala233=)
c.2077T>G (p.Ser693Ala)
Xg.53985085A>GCA413252559PHF8c.1969T>C (p.Ser657Pro)
c.2272T>C (p.Ser758Pro)
c.*727T>C (n.*727T>C)
c.*1714T>C (n.*1714T>C)
n.1636T>C
c.2221T>C (p.Ser741Pro)
c.2380T>C (p.Ser794Pro)
c.1983T>C
c.1562T>C
c.699T>C (p.Ala233=)
c.2077T>C (p.Ser693Pro)
Xg.53985085A>TCA413252561PHF8c.1969T>A (p.Ser657Thr)
c.2272T>A (p.Ser758Thr)
c.*727T>A (n.*727T>A)
c.*1714T>A (n.*1714T>A)
n.1636T>A
c.2221T>A (p.Ser741Thr)
c.2380T>A (p.Ser794Thr)
c.1983T>A
c.1562T>A
c.699T>A (p.Ala233=)
c.2077T>A (p.Ser693Thr)
Xg.53985086G>ACA413252564PHF8c.1968C>T (p.Ser656=)
c.2271C>T (p.Ser757=)
c.*726C>T (n.*726C>T)
c.*1713C>T (n.*1713C>T)
n.1635C>T
c.2220C>T (p.Ser740=)
c.2379C>T (p.Ser793=)
c.1982C>T
c.1561C>T
c.698C>T (p.Ala233Val)
c.2076C>T (p.Ser692=)
Xg.53985086G>CCA413252566PHF8c.1968C>G (p.Ser656Arg)
c.2271C>G (p.Ser757Arg)
c.*726C>G (n.*726C>G)
c.*1713C>G (n.*1713C>G)
n.1635C>G
c.2220C>G (p.Ser740Arg)
c.2379C>G (p.Ser793Arg)
c.1982C>G
c.1561C>G
c.698C>G (p.Ala233Gly)
c.2076C>G (p.Ser692Arg)
Xg.53985086G>TCA413252568PHF8c.1968C>A (p.Ser656Arg)
c.2271C>A (p.Ser757Arg)
c.*726C>A (n.*726C>A)
c.*1713C>A (n.*1713C>A)
n.1635C>A
c.2220C>A (p.Ser740Arg)
c.2379C>A (p.Ser793Arg)
c.1982C>A
c.1561C>A
c.698C>A (p.Ala233Asp)
c.2076C>A (p.Ser692Arg)
 gnomAD v4
Xg.53985087C>ACA413252573PHF8c.1967G>T (p.Ser656Ile)
c.2270G>T (p.Ser757Ile)
c.*725G>T (n.*725G>T)
c.*1712G>T (n.*1712G>T)
n.1634G>T
c.2219G>T (p.Ser740Ile)
c.2378G>T (p.Ser793Ile)
c.1981G>T
c.1560G>T
c.697G>T (p.Ala233Ser)
c.2075G>T (p.Ser692Ile)
Xg.53985087C>GCA413252576PHF8c.1967G>C (p.Ser656Thr)
c.2270G>C (p.Ser757Thr)
c.*725G>C (n.*725G>C)
c.*1712G>C (n.*1712G>C)
n.1634G>C
c.2219G>C (p.Ser740Thr)
c.2378G>C (p.Ser793Thr)
c.1981G>C
c.1560G>C
c.697G>C (p.Ala233Pro)
c.2075G>C (p.Ser692Thr)
Xg.53985087C>TCA413252571PHF8c.1967G>A (p.Ser656Asn)
c.2270G>A (p.Ser757Asn)
c.*725G>A (n.*725G>A)
c.*1712G>A (n.*1712G>A)
n.1634G>A
c.2219G>A (p.Ser740Asn)
c.2378G>A (p.Ser793Asn)
c.1981G>A
c.1560G>A
c.697G>A (p.Ala233Thr)
c.2075G>A (p.Ser692Asn)
Xg.53985088T>ACA413252579PHF8c.1966A>T (p.Ser656Cys)
c.2269A>T (p.Ser757Cys)
c.*724A>T (n.*724A>T)
c.*1711A>T (n.*1711A>T)
n.1633A>T
c.2218A>T (p.Ser740Cys)
c.2377A>T (p.Ser793Cys)
c.1980A>T
c.1559A>T
c.696A>T (p.Gly232=)
c.2074A>T (p.Ser692Cys)
Xg.53985088T>CCA413252581PHF8c.1966A>G (p.Ser656Gly)
c.2269A>G (p.Ser757Gly)
c.*724A>G (n.*724A>G)
c.*1711A>G (n.*1711A>G)
n.1633A>G
c.2218A>G (p.Ser740Gly)
c.2377A>G (p.Ser793Gly)
c.1980A>G
c.1559A>G
c.696A>G (p.Gly232=)
c.2074A>G (p.Ser692Gly)
Xg.53985088T>GCA413252583PHF8c.1966A>C (p.Ser656Arg)
c.2269A>C (p.Ser757Arg)
c.*724A>C (n.*724A>C)
c.*1711A>C (n.*1711A>C)
n.1633A>C
c.2218A>C (p.Ser740Arg)
c.2377A>C (p.Ser793Arg)
c.1980A>C
c.1559A>C
c.696A>C (p.Gly232=)
c.2074A>C (p.Ser692Arg)
Xg.53985089C>ACA413252586PHF8c.1965G>T (p.Gly655=)
c.2268G>T (p.Gly756=)
c.*723G>T (n.*723G>T)
c.*1710G>T (n.*1710G>T)
n.1632G>T
c.2217G>T (p.Gly739=)
c.2376G>T (p.Gly792=)
c.1979G>T
c.1558G>T
c.695G>T (p.Gly232Val)
c.2073G>T (p.Gly691=)
Xg.53985089C>GCA413252588PHF8c.1965G>C (p.Gly655=)
c.2268G>C (p.Gly756=)
c.*723G>C (n.*723G>C)
c.*1710G>C (n.*1710G>C)
n.1632G>C
c.2217G>C (p.Gly739=)
c.2376G>C (p.Gly792=)
c.1979G>C
c.1558G>C
c.695G>C (p.Gly232Ala)
c.2073G>C (p.Gly691=)
Xg.53985089C>TCA413252590PHF8c.1965G>A (p.Gly655=)
c.2268G>A (p.Gly756=)
c.*723G>A (n.*723G>A)
c.*1710G>A (n.*1710G>A)
n.1632G>A
c.2217G>A (p.Gly739=)
c.2376G>A (p.Gly792=)
c.1979G>A
c.1558G>A
c.695G>A (p.Gly232Glu)
c.2073G>A (p.Gly691=)
Xg.53985090C>ACA413252597PHF8c.1964G>T (p.Gly655Val)
c.2267G>T (p.Gly756Val)
c.*722G>T (n.*722G>T)
c.*1709G>T (n.*1709G>T)
n.1631G>T
c.2216G>T (p.Gly739Val)
c.2375G>T (p.Gly792Val)
c.1978G>T
c.1557G>T
c.694G>T (p.Gly232Ter)
c.2072G>T (p.Gly691Val)
Xg.53985090C>GCA413252595PHF8c.1964G>C (p.Gly655Ala)
c.2267G>C (p.Gly756Ala)
c.*722G>C (n.*722G>C)
c.*1709G>C (n.*1709G>C)
n.1631G>C
c.2216G>C (p.Gly739Ala)
c.2375G>C (p.Gly792Ala)
c.1978G>C
c.1557G>C
c.694G>C (p.Gly232Arg)
c.2072G>C (p.Gly691Ala)
Xg.53985090C>TCA413252594PHF8c.1964G>A (p.Gly655Glu)
c.2267G>A (p.Gly756Glu)
c.*722G>A (n.*722G>A)
c.*1709G>A (n.*1709G>A)
n.1631G>A
c.2216G>A (p.Gly739Glu)
c.2375G>A (p.Gly792Glu)
c.1978G>A
c.1557G>A
c.694G>A (p.Gly232Arg)
c.2072G>A (p.Gly691Glu)
Xg.53985091C>ACA413252600PHF8c.1963G>T (p.Gly655Trp)
c.2266G>T (p.Gly756Trp)
c.*721G>T (n.*721G>T)
c.*1708G>T (n.*1708G>T)
n.1630G>T
c.2215G>T (p.Gly739Trp)
c.2374G>T (p.Gly792Trp)
c.1977G>T
c.1556G>T
c.693G>T (p.Val231=)
c.2071G>T (p.Gly691Trp)
Xg.53985091C>GCA413252602PHF8c.1963G>C (p.Gly655Arg)
c.2266G>C (p.Gly756Arg)
c.*721G>C (n.*721G>C)
c.*1708G>C (n.*1708G>C)
n.1630G>C
c.2215G>C (p.Gly739Arg)
c.2374G>C (p.Gly792Arg)
c.1977G>C
c.1556G>C
c.693G>C (p.Val231=)
c.2071G>C (p.Gly691Arg)
Xg.53985091C>TCA413252604PHF8c.1963G>A (p.Gly655Arg)
c.2266G>A (p.Gly756Arg)
c.*721G>A (n.*721G>A)
c.*1708G>A (n.*1708G>A)
n.1630G>A
c.2215G>A (p.Gly739Arg)
c.2374G>A (p.Gly792Arg)
c.1977G>A
c.1556G>A
c.693G>A (p.Val231=)
c.2071G>A (p.Gly691Arg)
Xg.53985092A>CCA413252607PHF8c.1962T>G (p.Ser654Arg)
c.2265T>G (p.Ser755Arg)
c.*720T>G (n.*720T>G)
c.*1707T>G (n.*1707T>G)
n.1629T>G
c.2214T>G (p.Ser738Arg)
c.2373T>G (p.Ser791Arg)
c.1976T>G
c.1555T>G
c.692T>G (p.Val231Gly)
c.2070T>G (p.Ser690Arg)
Xg.53985092A>GCA413252609PHF8c.1962T>C (p.Ser654=)
c.2265T>C (p.Ser755=)
c.*720T>C (n.*720T>C)
c.*1707T>C (n.*1707T>C)
n.1629T>C
c.2214T>C (p.Ser738=)
c.2373T>C (p.Ser791=)
c.1976T>C
c.1555T>C
c.692T>C (p.Val231Ala)
c.2070T>C (p.Ser690=)
Xg.53985092A>TCA413252611PHF8c.1962T>A (p.Ser654Arg)
c.2265T>A (p.Ser755Arg)
c.*720T>A (n.*720T>A)
c.*1707T>A (n.*1707T>A)
n.1629T>A
c.2214T>A (p.Ser738Arg)
c.2373T>A (p.Ser791Arg)
c.1976T>A
c.1555T>A
c.692T>A (p.Val231Glu)
c.2070T>A (p.Ser690Arg)
Xg.53985093C>ACA413252614PHF8c.1961G>T (p.Ser654Ile)
c.2264G>T (p.Ser755Ile)
c.*719G>T (n.*719G>T)
c.*1706G>T (n.*1706G>T)
n.1628G>T
c.2213G>T (p.Ser738Ile)
c.2372G>T (p.Ser791Ile)
c.1975G>T
c.1554G>T
c.691G>T (p.Val231Leu)
c.2069G>T (p.Ser690Ile)
Xg.53985093C>GCA413252619PHF8c.1961G>C (p.Ser654Thr)
c.2264G>C (p.Ser755Thr)
c.*719G>C (n.*719G>C)
c.*1706G>C (n.*1706G>C)
n.1628G>C
c.2213G>C (p.Ser738Thr)
c.2372G>C (p.Ser791Thr)
c.1975G>C
c.1554G>C
c.691G>C (p.Val231Leu)
c.2069G>C (p.Ser690Thr)
Xg.53985093C>TCA413252616PHF8c.1961G>A (p.Ser654Asn)
c.2264G>A (p.Ser755Asn)
c.*719G>A (n.*719G>A)
c.*1706G>A (n.*1706G>A)
n.1628G>A
c.2213G>A (p.Ser738Asn)
c.2372G>A (p.Ser791Asn)
c.1975G>A
c.1554G>A
c.691G>A (p.Val231Met)
c.2069G>A (p.Ser690Asn)
Xg.53985094T>ACA413252622PHF8c.1960A>T (p.Ser654Cys)
c.2263A>T (p.Ser755Cys)
c.*718A>T (n.*718A>T)
c.*1705A>T (n.*1705A>T)
n.1627A>T
c.2212A>T (p.Ser738Cys)
c.2371A>T (p.Ser791Cys)
c.1974A>T
c.1553A>T
c.690A>T (p.Ala230=)
c.2068A>T (p.Ser690Cys)
Xg.53985094T>CCA413252624PHF8c.1960A>G (p.Ser654Gly)
c.2263A>G (p.Ser755Gly)
c.*718A>G (n.*718A>G)
c.*1705A>G (n.*1705A>G)
n.1627A>G
c.2212A>G (p.Ser738Gly)
c.2371A>G (p.Ser791Gly)
c.1974A>G
c.1553A>G
c.690A>G (p.Ala230=)
c.2068A>G (p.Ser690Gly)
 gnomAD v4
Xg.53985094T>GCA413252626PHF8c.1960A>C (p.Ser654Arg)
c.2263A>C (p.Ser755Arg)
c.*718A>C (n.*718A>C)
c.*1705A>C (n.*1705A>C)
n.1627A>C
c.2212A>C (p.Ser738Arg)
c.2371A>C (p.Ser791Arg)
c.1974A>C
c.1553A>C
c.690A>C (p.Ala230=)
c.2068A>C (p.Ser690Arg)
Xg.53985095G>ACA413252629PHF8c.1959C>T (p.Ser653=)
c.2262C>T (p.Ser754=)
c.*717C>T (n.*717C>T)
c.*1704C>T (n.*1704C>T)
n.1626C>T
c.2211C>T (p.Ser737=)
c.2370C>T (p.Ser790=)
c.1973C>T
c.1552C>T
c.689C>T (p.Ala230Val)
c.2067C>T (p.Ser689=)
Xg.53985095G>CCA413252632PHF8c.1959C>G (p.Ser653Arg)
c.2262C>G (p.Ser754Arg)
c.*717C>G (n.*717C>G)
c.*1704C>G (n.*1704C>G)
n.1626C>G
c.2211C>G (p.Ser737Arg)
c.2370C>G (p.Ser790Arg)
c.1973C>G
c.1552C>G
c.689C>G (p.Ala230Gly)
c.2067C>G (p.Ser689Arg)
Xg.53985095G>TCA413252634PHF8c.1959C>A (p.Ser653Arg)
c.2262C>A (p.Ser754Arg)
c.*717C>A (n.*717C>A)
c.*1704C>A (n.*1704C>A)
n.1626C>A
c.2211C>A (p.Ser737Arg)
c.2370C>A (p.Ser790Arg)
c.1973C>A
c.1552C>A
c.689C>A (p.Ala230Glu)
c.2067C>A (p.Ser689Arg)
Xg.53985096C>ACA413252638PHF8c.1958G>T (p.Ser653Ile)
c.2261G>T (p.Ser754Ile)
c.*716G>T (n.*716G>T)
c.*1703G>T (n.*1703G>T)
n.1625G>T
c.2210G>T (p.Ser737Ile)
c.2369G>T (p.Ser790Ile)
c.1972G>T
c.1551G>T
c.688G>T (p.Ala230Ser)
c.2066G>T (p.Ser689Ile)
Xg.53985096C=CA2430030692PHF8c.1958G= (p.Ser653=)
c.2261G= (p.Ser754=)
c.*716G= (n.*716G=)
c.*1703G= (n.*1703G=)
n.1625G=
c.2210G= (p.Ser737=)
c.2369G= (p.Ser790=)
c.1972G=
c.1551G=
c.688G= (p.Ala230=)
c.2066G= (p.Ser689=)
Xg.53985096C>GCA413252640PHF8c.1958G>C (p.Ser653Thr)
c.2261G>C (p.Ser754Thr)
c.*716G>C (n.*716G>C)
c.*1703G>C (n.*1703G>C)
n.1625G>C
c.2210G>C (p.Ser737Thr)
c.2369G>C (p.Ser790Thr)
c.1972G>C
c.1551G>C
c.688G>C (p.Ala230Pro)
c.2066G>C (p.Ser689Thr)
Xg.53985096C>TCA329924351PHF8c.1958G>A (p.Ser653Asn)
c.2261G>A (p.Ser754Asn)
c.*716G>A (n.*716G>A)
c.*1703G>A (n.*1703G>A)
n.1625G>A
c.2210G>A (p.Ser737Asn)
c.2369G>A (p.Ser790Asn)
c.1972G>A
c.1551G>A
c.688G>A (p.Ala230Thr)
c.2066G>A (p.Ser689Asn)
 dbSNP
Xg.53985097T>ACA413252643PHF8c.1957A>T (p.Ser653Cys)
c.2260A>T (p.Ser754Cys)
c.*715A>T (n.*715A>T)
c.*1702A>T (n.*1702A>T)
n.1624A>T
c.2209A>T (p.Ser737Cys)
c.2368A>T (p.Ser790Cys)
c.1971A>T
c.1550A>T
c.687A>T (p.Glu229Asp)
c.2065A>T (p.Ser689Cys)
Xg.53985097T>CCA413252644PHF8c.1957A>G (p.Ser653Gly)
c.2260A>G (p.Ser754Gly)
c.*715A>G (n.*715A>G)
c.*1702A>G (n.*1702A>G)
n.1624A>G
c.2209A>G (p.Ser737Gly)
c.2368A>G (p.Ser790Gly)
c.1971A>G
c.1550A>G
c.687A>G (p.Glu229=)
c.2065A>G (p.Ser689Gly)
Xg.53985097T>GCA413252645PHF8c.1957A>C (p.Ser653Arg)
c.2260A>C (p.Ser754Arg)
c.*715A>C (n.*715A>C)
c.*1702A>C (n.*1702A>C)
n.1624A>C
c.2209A>C (p.Ser737Arg)
c.2368A>C (p.Ser790Arg)
c.1971A>C
c.1550A>C
c.687A>C (p.Glu229Asp)
c.2065A>C (p.Ser689Arg)
Xg.53985098T>ACA413252646PHF8c.1956A>T (p.Arg652=)
c.2259A>T (p.Arg753=)
c.*714A>T (n.*714A>T)
c.*1701A>T (n.*1701A>T)
n.1623A>T
c.2208A>T (p.Arg736=)
c.2367A>T (p.Arg789=)
c.1970A>T
c.1549A>T
c.686A>T (p.Glu229Val)
c.2064A>T (p.Arg688=)
Xg.53985098T>CCA413252648PHF8c.1956A>G (p.Arg652=)
c.2259A>G (p.Arg753=)
c.*714A>G (n.*714A>G)
c.*1701A>G (n.*1701A>G)
n.1623A>G
c.2208A>G (p.Arg736=)
c.2367A>G (p.Arg789=)
c.1970A>G
c.1549A>G
c.686A>G (p.Glu229Gly)
c.2064A>G (p.Arg688=)
Xg.53985098T>GCA413252647PHF8c.1956A>C (p.Arg652=)
c.2259A>C (p.Arg753=)
c.*714A>C (n.*714A>C)
c.*1701A>C (n.*1701A>C)
n.1623A>C
c.2208A>C (p.Arg736=)
c.2367A>C (p.Arg789=)
c.1970A>C
c.1549A>C
c.686A>C (p.Glu229Ala)
c.2064A>C (p.Arg688=)
 gnomAD v4
Xg.53985099C>ACA413252649PHF8c.1955G>T (p.Arg652Leu)
c.2258G>T (p.Arg753Leu)
c.*713G>T (n.*713G>T)
c.*1700G>T (n.*1700G>T)
n.1622G>T
c.2207G>T (p.Arg736Leu)
c.2366G>T (p.Arg789Leu)
c.1969G>T
c.1548G>T
c.685G>T (p.Glu229Ter)
c.2063G>T (p.Arg688Leu)
Xg.53985099C=CA2430030693PHF8c.1955G= (p.Arg652=)
c.2258G= (p.Arg753=)
c.*713G= (n.*713G=)
c.*1700G= (n.*1700G=)
n.1622G=
c.2207G= (p.Arg736=)
c.2366G= (p.Arg789=)
c.1969G=
c.1548G=
c.685G= (p.Glu229=)
c.2063G= (p.Arg688=)
Xg.53985099C>GCA413252650PHF8c.1955G>C (p.Arg652Pro)
c.2258G>C (p.Arg753Pro)
c.*713G>C (n.*713G>C)
c.*1700G>C (n.*1700G>C)
n.1622G>C
c.2207G>C (p.Arg736Pro)
c.2366G>C (p.Arg789Pro)
c.1969G>C
c.1548G>C
c.685G>C (p.Glu229Gln)
c.2063G>C (p.Arg688Pro)
 dbSNP
Xg.53985099C>TCA413252651PHF8c.1955G>A (p.Arg652Gln)
c.2258G>A (p.Arg753Gln)
c.*713G>A (n.*713G>A)
c.*1700G>A (n.*1700G>A)
n.1622G>A
c.2207G>A (p.Arg736Gln)
c.2366G>A (p.Arg789Gln)
c.1969G>A
c.1548G>A
c.685G>A (p.Glu229Lys)
c.2063G>A (p.Arg688Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985100G>ACA413252654PHF8c.1954C>T (p.Arg652Ter)
c.2257C>T (p.Arg753Ter)
c.*712C>T (n.*712C>T)
c.*1699C>T (n.*1699C>T)
n.1621C>T
c.2206C>T (p.Arg736Ter)
c.2365C>T (p.Arg789Ter)
c.1968C>T
c.1547C>T
c.684C>T (p.Ile228=)
c.2062C>T (p.Arg688Ter)
 ClinVar
Xg.53985100G>CCA413252656PHF8c.1954C>G (p.Arg652Gly)
c.2257C>G (p.Arg753Gly)
c.*712C>G (n.*712C>G)
c.*1699C>G (n.*1699C>G)
n.1621C>G
c.2206C>G (p.Arg736Gly)
c.2365C>G (p.Arg789Gly)
c.1968C>G
c.1547C>G
c.684C>G (p.Ile228Met)
c.2062C>G (p.Arg688Gly)
 gnomAD v4
Xg.53985100G>TCA516688975PHF8c.1954C>A (p.Arg652=)
c.2257C>A (p.Arg753=)
c.*712C>A (n.*712C>A)
c.*1699C>A (n.*1699C>A)
n.1621C>A
c.2206C>A (p.Arg736=)
c.2365C>A (p.Arg789=)
c.1968C>A
c.1547C>A
c.684C>A (p.Ile228=)
c.2062C>A (p.Arg688=)
Xg.53985101A>CCA413252658PHF8c.1953T>G (p.Asp651Glu)
c.2256T>G (p.Asp752Glu)
c.*711T>G (n.*711T>G)
c.*1698T>G (n.*1698T>G)
n.1620T>G
c.2205T>G (p.Asp735Glu)
c.2364T>G (p.Asp788Glu)
c.1967T>G
c.1546T>G
c.683T>G (p.Ile228Ser)
c.2061T>G (p.Asp687Glu)
 gnomAD v4
Xg.53985101A>GCA413252661PHF8c.1953T>C (p.Asp651=)
c.2256T>C (p.Asp752=)
c.*711T>C (n.*711T>C)
c.*1698T>C (n.*1698T>C)
n.1620T>C
c.2205T>C (p.Asp735=)
c.2364T>C (p.Asp788=)
c.1967T>C
c.1546T>C
c.683T>C (p.Ile228Thr)
c.2061T>C (p.Asp687=)
Xg.53985101A>TCA413252663PHF8c.1953T>A (p.Asp651Glu)
c.2256T>A (p.Asp752Glu)
c.*711T>A (n.*711T>A)
c.*1698T>A (n.*1698T>A)
n.1620T>A
c.2205T>A (p.Asp735Glu)
c.2364T>A (p.Asp788Glu)
c.1967T>A
c.1546T>A
c.683T>A (p.Ile228Asn)
c.2061T>A (p.Asp687Glu)
Xg.53985102T>ACA413252665PHF8c.1952A>T (p.Asp651Val)
c.2255A>T (p.Asp752Val)
c.*710A>T (n.*710A>T)
c.*1697A>T (n.*1697A>T)
n.1619A>T
c.2204A>T (p.Asp735Val)
c.2363A>T (p.Asp788Val)
c.1966A>T
c.1545A>T
c.682A>T (p.Ile228Phe)
c.2060A>T (p.Asp687Val)
Xg.53985102T>CCA413252667PHF8c.1952A>G (p.Asp651Gly)
c.2255A>G (p.Asp752Gly)
c.*710A>G (n.*710A>G)
c.*1697A>G (n.*1697A>G)
n.1619A>G
c.2204A>G (p.Asp735Gly)
c.2363A>G (p.Asp788Gly)
c.1966A>G
c.1545A>G
c.682A>G (p.Ile228Val)
c.2060A>G (p.Asp687Gly)
Xg.53985102T>GCA413252670PHF8c.1952A>C (p.Asp651Ala)
c.2255A>C (p.Asp752Ala)
c.*710A>C (n.*710A>C)
c.*1697A>C (n.*1697A>C)
n.1619A>C
c.2204A>C (p.Asp735Ala)
c.2363A>C (p.Asp788Ala)
c.1966A>C
c.1545A>C
c.682A>C (p.Ile228Leu)
c.2060A>C (p.Asp687Ala)
Xg.53985103C>ACA413252678PHF8c.1951G>T (p.Asp651Tyr)
c.2254G>T (p.Asp752Tyr)
c.*709G>T (n.*709G>T)
c.*1696G>T (n.*1696G>T)
n.1618G>T
c.2203G>T (p.Asp735Tyr)
c.2362G>T (p.Asp788Tyr)
c.1965G>T
c.1544G>T
c.681G>T (p.Arg227Ser)
c.2059G>T (p.Asp687Tyr)
Xg.53985103C>GCA413252676PHF8c.1951G>C (p.Asp651His)
c.2254G>C (p.Asp752His)
c.*709G>C (n.*709G>C)
c.*1696G>C (n.*1696G>C)
n.1618G>C
c.2203G>C (p.Asp735His)
c.2362G>C (p.Asp788His)
c.1965G>C
c.1544G>C
c.681G>C (p.Arg227Ser)
c.2059G>C (p.Asp687His)
Xg.53985103C>TCA413252673PHF8c.1951G>A (p.Asp651Asn)
c.2254G>A (p.Asp752Asn)
c.*709G>A (n.*709G>A)
c.*1696G>A (n.*1696G>A)
n.1618G>A
c.2203G>A (p.Asp735Asn)
c.2362G>A (p.Asp788Asn)
c.1965G>A
c.1544G>A
c.681G>A (p.Arg227=)
c.2059G>A (p.Asp687Asn)
Xg.53985104C>ACA413252681PHF8c.1950G>T (p.Gln650His)
c.2253G>T (p.Gln751His)
c.*708G>T (n.*708G>T)
c.*1695G>T (n.*1695G>T)
n.1617G>T
c.2202G>T (p.Gln734His)
c.2361G>T (p.Gln787His)
c.1964G>T
c.1543G>T
c.680G>T (p.Arg227Met)
c.2058G>T (p.Gln686His)
Xg.53985104C>GCA413252683PHF8c.1950G>C (p.Gln650His)
c.2253G>C (p.Gln751His)
c.*708G>C (n.*708G>C)
c.*1695G>C (n.*1695G>C)
n.1617G>C
c.2202G>C (p.Gln734His)
c.2361G>C (p.Gln787His)
c.1964G>C
c.1543G>C
c.680G>C (p.Arg227Thr)
c.2058G>C (p.Gln686His)
Xg.53985104C>TCA413252686PHF8c.1950G>A (p.Gln650=)
c.2253G>A (p.Gln751=)
c.*708G>A (n.*708G>A)
c.*1695G>A (n.*1695G>A)
n.1617G>A
c.2202G>A (p.Gln734=)
c.2361G>A (p.Gln787=)
c.1964G>A
c.1543G>A
c.680G>A (p.Arg227Lys)
c.2058G>A (p.Gln686=)
Xg.53985105T>ACA413252689PHF8c.1949A>T (p.Gln650Leu)
c.2252A>T (p.Gln751Leu)
c.*707A>T (n.*707A>T)
c.*1694A>T (n.*1694A>T)
n.1616A>T
c.2201A>T (p.Gln734Leu)
c.2360A>T (p.Gln787Leu)
c.1963A>T
c.1542A>T
c.679A>T (p.Arg227Trp)
c.2057A>T (p.Gln686Leu)
Xg.53985105T>CCA413252691PHF8c.1949A>G (p.Gln650Arg)
c.2252A>G (p.Gln751Arg)
c.*707A>G (n.*707A>G)
c.*1694A>G (n.*1694A>G)
n.1616A>G
c.2201A>G (p.Gln734Arg)
c.2360A>G (p.Gln787Arg)
c.1963A>G
c.1542A>G
c.679A>G (p.Arg227Gly)
c.2057A>G (p.Gln686Arg)
 gnomAD v4
Xg.53985105T>GCA413252694PHF8c.1949A>C (p.Gln650Pro)
c.2252A>C (p.Gln751Pro)
c.*707A>C (n.*707A>C)
c.*1694A>C (n.*1694A>C)
n.1616A>C
c.2201A>C (p.Gln734Pro)
c.2360A>C (p.Gln787Pro)
c.1963A>C
c.1542A>C
c.679A>C (p.Arg227=)
c.2057A>C (p.Gln686Pro)
Xg.53985106G>ACA413252697PHF8c.1948C>T (p.Gln650Ter)
c.2251C>T (p.Gln751Ter)
c.*706C>T (n.*706C>T)
c.*1693C>T (n.*1693C>T)
n.1615C>T
c.2200C>T (p.Gln734Ter)
c.2359C>T (p.Gln787Ter)
c.1962C>T
c.1541C>T
c.678C>T (p.Asp226=)
c.2056C>T (p.Gln686Ter)
Xg.53985106G>CCA413252699PHF8c.1948C>G (p.Gln650Glu)
c.2251C>G (p.Gln751Glu)
c.*706C>G (n.*706C>G)
c.*1693C>G (n.*1693C>G)
n.1615C>G
c.2200C>G (p.Gln734Glu)
c.2359C>G (p.Gln787Glu)
c.1962C>G
c.1541C>G
c.678C>G (p.Asp226Glu)
c.2056C>G (p.Gln686Glu)
Xg.53985106G>TCA413252701PHF8c.1948C>A (p.Gln650Lys)
c.2251C>A (p.Gln751Lys)
c.*706C>A (n.*706C>A)
c.*1693C>A (n.*1693C>A)
n.1615C>A
c.2200C>A (p.Gln734Lys)
c.2359C>A (p.Gln787Lys)
c.1962C>A
c.1541C>A
c.678C>A (p.Asp226Glu)
c.2056C>A (p.Gln686Lys)
Xg.53985107T>ACA413252704PHF8c.1947A>T (p.Gly649=)
c.2250A>T (p.Gly750=)
c.*705A>T (n.*705A>T)
c.*1692A>T (n.*1692A>T)
n.1614A>T
c.2199A>T (p.Gly733=)
c.2358A>T (p.Gly786=)
c.1961A>T
c.1540A>T
c.677A>T (p.Asp226Val)
c.2055A>T (p.Gly685=)
Xg.53985107T>CCA413252706PHF8c.1947A>G (p.Gly649=)
c.2250A>G (p.Gly750=)
c.*705A>G (n.*705A>G)
c.*1692A>G (n.*1692A>G)
n.1614A>G
c.2199A>G (p.Gly733=)
c.2358A>G (p.Gly786=)
c.1961A>G
c.1540A>G
c.677A>G (p.Asp226Gly)
c.2055A>G (p.Gly685=)
Xg.53985107T>GCA413252708PHF8c.1947A>C (p.Gly649=)
c.2250A>C (p.Gly750=)
c.*705A>C (n.*705A>C)
c.*1692A>C (n.*1692A>C)
n.1614A>C
c.2199A>C (p.Gly733=)
c.2358A>C (p.Gly786=)
c.1961A>C
c.1540A>C
c.677A>C (p.Asp226Ala)
c.2055A>C (p.Gly685=)
Xg.53985108C>ACA413252711PHF8c.1946G>T (p.Gly649Val)
c.2249G>T (p.Gly750Val)
c.*704G>T (n.*704G>T)
c.*1691G>T (n.*1691G>T)
n.1613G>T
c.2198G>T (p.Gly733Val)
c.2357G>T (p.Gly786Val)
c.1960G>T
c.1539G>T
c.676G>T (p.Asp226Tyr)
c.2054G>T (p.Gly685Val)
Xg.53985108C>GCA413252716PHF8c.1946G>C (p.Gly649Ala)
c.2249G>C (p.Gly750Ala)
c.*704G>C (n.*704G>C)
c.*1691G>C (n.*1691G>C)
n.1613G>C
c.2198G>C (p.Gly733Ala)
c.2357G>C (p.Gly786Ala)
c.1960G>C
c.1539G>C
c.676G>C (p.Asp226His)
c.2054G>C (p.Gly685Ala)
Xg.53985108C>TCA413252714PHF8c.1946G>A (p.Gly649Glu)
c.2249G>A (p.Gly750Glu)
c.*704G>A (n.*704G>A)
c.*1691G>A (n.*1691G>A)
n.1613G>A
c.2198G>A (p.Gly733Glu)
c.2357G>A (p.Gly786Glu)
c.1960G>A
c.1539G>A
c.676G>A (p.Asp226Asn)
c.2054G>A (p.Gly685Glu)
Xg.53985109C>ACA413252719PHF8c.1945G>T (p.Gly649Ter)
c.2248G>T (p.Gly750Ter)
c.*703G>T (n.*703G>T)
c.*1690G>T (n.*1690G>T)
n.1612G>T
c.2197G>T (p.Gly733Ter)
c.2356G>T (p.Gly786Ter)
c.1959G>T
c.1538G>T
c.675G>T (p.Gly225=)
c.2053G>T (p.Gly685Ter)
Xg.53985109C>GCA413252723PHF8c.1945G>C (p.Gly649Arg)
c.2248G>C (p.Gly750Arg)
c.*703G>C (n.*703G>C)
c.*1690G>C (n.*1690G>C)
n.1612G>C
c.2197G>C (p.Gly733Arg)
c.2356G>C (p.Gly786Arg)
c.1959G>C
c.1538G>C
c.675G>C (p.Gly225=)
c.2053G>C (p.Gly685Arg)
Xg.53985109C>TCA413252721PHF8c.1945G>A (p.Gly649Arg)
c.2248G>A (p.Gly750Arg)
c.*703G>A (n.*703G>A)
c.*1690G>A (n.*1690G>A)
n.1612G>A
c.2197G>A (p.Gly733Arg)
c.2356G>A (p.Gly786Arg)
c.1959G>A
c.1538G>A
c.675G>A (p.Gly225=)
c.2053G>A (p.Gly685Arg)
 gnomAD v4
Xg.53985110C>ACA413252727PHF8c.1944G>T (p.Gly648=)
c.2247G>T (p.Gly749=)
c.*702G>T (n.*702G>T)
c.*1689G>T (n.*1689G>T)
n.1611G>T
c.2196G>T (p.Gly732=)
c.2355G>T (p.Gly785=)
c.1958G>T
c.1537G>T
c.674G>T (p.Gly225Val)
c.2052G>T (p.Gly684=)
Xg.53985110C=CA2430030694PHF8c.1944G= (p.Gly648=)
c.2247G= (p.Gly749=)
c.*702G= (n.*702G=)
c.*1689G= (n.*1689G=)
n.1611G=
c.2196G= (p.Gly732=)
c.2355G= (p.Gly785=)
c.1958G=
c.1537G=
c.674G= (p.Gly225=)
c.2052G= (p.Gly684=)
Xg.53985110C>GCA413252729PHF8c.1944G>C (p.Gly648=)
c.2247G>C (p.Gly749=)
c.*702G>C (n.*702G>C)
c.*1689G>C (n.*1689G>C)
n.1611G>C
c.2196G>C (p.Gly732=)
c.2355G>C (p.Gly785=)
c.1958G>C
c.1537G>C
c.674G>C (p.Gly225Ala)
c.2052G>C (p.Gly684=)
Xg.53985110C>TCA10423318PHF8c.1944G>A (p.Gly648=)
c.2247G>A (p.Gly749=)
c.*702G>A (n.*702G>A)
c.*1689G>A (n.*1689G>A)
n.1611G>A
c.2196G>A (p.Gly732=)
c.2355G>A (p.Gly785=)
c.1958G>A
c.1537G>A
c.674G>A (p.Gly225Glu)
c.2052G>A (p.Gly684=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985111C>ACA413252734PHF8c.1943G>T (p.Gly648Val)
c.2246G>T (p.Gly749Val)
c.*701G>T (n.*701G>T)
c.*1688G>T (n.*1688G>T)
n.1610G>T
c.2195G>T (p.Gly732Val)
c.2354G>T (p.Gly785Val)
c.1957G>T
c.1536G>T
c.673G>T (p.Gly225Trp)
c.2051G>T (p.Gly684Val)
Xg.53985111C>GCA413252736PHF8c.1943G>C (p.Gly648Ala)
c.2246G>C (p.Gly749Ala)
c.*701G>C (n.*701G>C)
c.*1688G>C (n.*1688G>C)
n.1610G>C
c.2195G>C (p.Gly732Ala)
c.2354G>C (p.Gly785Ala)
c.1957G>C
c.1536G>C
c.673G>C (p.Gly225Arg)
c.2051G>C (p.Gly684Ala)
 ClinVar gnomAD v4
Xg.53985111C>TCA413252739PHF8c.1943G>A (p.Gly648Glu)
c.2246G>A (p.Gly749Glu)
c.*701G>A (n.*701G>A)
c.*1688G>A (n.*1688G>A)
n.1610G>A
c.2195G>A (p.Gly732Glu)
c.2354G>A (p.Gly785Glu)
c.1957G>A
c.1536G>A
c.673G>A (p.Gly225Arg)
c.2051G>A (p.Gly684Glu)
Xg.53985112C>ACA413252747PHF8c.1942G>T (p.Gly648Trp)
c.2245G>T (p.Gly749Trp)
c.*700G>T (n.*700G>T)
c.*1687G>T (n.*1687G>T)
n.1609G>T
c.2194G>T (p.Gly732Trp)
c.2353G>T (p.Gly785Trp)
c.1956G>T
c.1535G>T
c.672G>T (p.Leu224=)
c.2050G>T (p.Gly684Trp)
 gnomAD v4
Xg.53985112C=CA2430030695PHF8c.1942G= (p.Gly648=)
c.2245G= (p.Gly749=)
c.*700G= (n.*700G=)
c.*1687G= (n.*1687G=)
n.1609G=
c.2194G= (p.Gly732=)
c.2353G= (p.Gly785=)
c.1956G=
c.1535G=
c.672G= (p.Leu224=)
c.2050G= (p.Gly684=)
Xg.53985112C>GCA413252745PHF8c.1942G>C (p.Gly648Arg)
c.2245G>C (p.Gly749Arg)
c.*700G>C (n.*700G>C)
c.*1687G>C (n.*1687G>C)
n.1609G>C
c.2194G>C (p.Gly732Arg)
c.2353G>C (p.Gly785Arg)
c.1956G>C
c.1535G>C
c.672G>C (p.Leu224=)
c.2050G>C (p.Gly684Arg)
Xg.53985112C>TCA413252742PHF8c.1942G>A (p.Gly648Arg)
c.2245G>A (p.Gly749Arg)
c.*700G>A (n.*700G>A)
c.*1687G>A (n.*1687G>A)
n.1609G>A
c.2194G>A (p.Gly732Arg)
c.2353G>A (p.Gly785Arg)
c.1956G>A
c.1535G>A
c.672G>A (p.Leu224=)
c.2050G>A (p.Gly684Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985113A>CCA413252750PHF8c.1941T>G (p.Thr647=)
c.2244T>G (p.Thr748=)
c.*699T>G (n.*699T>G)
c.*1686T>G (n.*1686T>G)
n.1608T>G
c.2193T>G (p.Thr731=)
c.2352T>G (p.Thr784=)
c.1955T>G
c.1534T>G
c.671T>G (p.Leu224Arg)
c.2049T>G (p.Thr683=)
Xg.53985113A>GCA413252751PHF8c.1941T>C (p.Thr647=)
c.2244T>C (p.Thr748=)
c.*699T>C (n.*699T>C)
c.*1686T>C (n.*1686T>C)
n.1608T>C
c.2193T>C (p.Thr731=)
c.2352T>C (p.Thr784=)
c.1955T>C
c.1534T>C
c.671T>C (p.Leu224Pro)
c.2049T>C (p.Thr683=)
Xg.53985113A>TCA413252754PHF8c.1941T>A (p.Thr647=)
c.2244T>A (p.Thr748=)
c.*699T>A (n.*699T>A)
c.*1686T>A (n.*1686T>A)
n.1608T>A
c.2193T>A (p.Thr731=)
c.2352T>A (p.Thr784=)
c.1955T>A
c.1534T>A
c.671T>A (p.Leu224Gln)
c.2049T>A (p.Thr683=)
Xg.53985114G>ACA413252757PHF8c.1940C>T (p.Thr647Ile)
c.2243C>T (p.Thr748Ile)
c.*698C>T (n.*698C>T)
c.*1685C>T (n.*1685C>T)
n.1607C>T
c.2192C>T (p.Thr731Ile)
c.2351C>T (p.Thr784Ile)
c.1954C>T
c.1533C>T
c.670C>T (p.Leu224=)
c.2048C>T (p.Thr683Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985114G>CCA413252759PHF8c.1940C>G (p.Thr647Ser)
c.2243C>G (p.Thr748Ser)
c.*698C>G (n.*698C>G)
c.*1685C>G (n.*1685C>G)
n.1607C>G
c.2192C>G (p.Thr731Ser)
c.2351C>G (p.Thr784Ser)
c.1954C>G
c.1533C>G
c.670C>G (p.Leu224Val)
c.2048C>G (p.Thr683Ser)
Xg.53985114G=CA2430030696PHF8c.1940C= (p.Thr647=)
c.2243C= (p.Thr748=)
c.*698C= (n.*698C=)
c.*1685C= (n.*1685C=)
n.1607C=
c.2192C= (p.Thr731=)
c.2351C= (p.Thr784=)
c.1954C=
c.1533C=
c.670C= (p.Leu224=)
c.2048C= (p.Thr683=)
Xg.53985114G>TCA413252762PHF8c.1940C>A (p.Thr647Asn)
c.2243C>A (p.Thr748Asn)
c.*698C>A (n.*698C>A)
c.*1685C>A (n.*1685C>A)
n.1607C>A
c.2192C>A (p.Thr731Asn)
c.2351C>A (p.Thr784Asn)
c.1954C>A
c.1533C>A
c.670C>A (p.Leu224Met)
c.2048C>A (p.Thr683Asn)
Xg.53985115T>ACA413252764PHF8c.1939A>T (p.Thr647Ser)
c.2242A>T (p.Thr748Ser)
c.*697A>T (n.*697A>T)
c.*1684A>T (n.*1684A>T)
n.1606A>T
c.2191A>T (p.Thr731Ser)
c.2350A>T (p.Thr784Ser)
c.1953A>T
c.1532A>T
c.669A>T (p.Gly223=)
c.2047A>T (p.Thr683Ser)
Xg.53985115T>CCA413252768PHF8c.1939A>G (p.Thr647Ala)
c.2242A>G (p.Thr748Ala)
c.*697A>G (n.*697A>G)
c.*1684A>G (n.*1684A>G)
n.1606A>G
c.2191A>G (p.Thr731Ala)
c.2350A>G (p.Thr784Ala)
c.1953A>G
c.1532A>G
c.669A>G (p.Gly223=)
c.2047A>G (p.Thr683Ala)
Xg.53985115T>GCA413252766PHF8c.1939A>C (p.Thr647Pro)
c.2242A>C (p.Thr748Pro)
c.*697A>C (n.*697A>C)
c.*1684A>C (n.*1684A>C)
n.1606A>C
c.2191A>C (p.Thr731Pro)
c.2350A>C (p.Thr784Pro)
c.1953A>C
c.1532A>C
c.669A>C (p.Gly223=)
c.2047A>C (p.Thr683Pro)
Xg.53985116C>ACA413252771PHF8c.1938G>T (p.Trp646Cys)
c.2241G>T (p.Trp747Cys)
c.*696G>T (n.*696G>T)
c.*1683G>T (n.*1683G>T)
n.1605G>T
c.2190G>T (p.Trp730Cys)
c.2349G>T (p.Trp783Cys)
c.1952G>T
c.1531G>T
c.668G>T (p.Gly223Val)
c.2046G>T (p.Trp682Cys)
 gnomAD v4
Xg.53985116C>GCA413252773PHF8c.1938G>C (p.Trp646Cys)
c.2241G>C (p.Trp747Cys)
c.*696G>C (n.*696G>C)
c.*1683G>C (n.*1683G>C)
n.1605G>C
c.2190G>C (p.Trp730Cys)
c.2349G>C (p.Trp783Cys)
c.1952G>C
c.1531G>C
c.668G>C (p.Gly223Ala)
c.2046G>C (p.Trp682Cys)
Xg.53985116C>TCA413252775PHF8c.1938G>A (p.Trp646Ter)
c.2241G>A (p.Trp747Ter)
c.*696G>A (n.*696G>A)
c.*1683G>A (n.*1683G>A)
n.1605G>A
c.2190G>A (p.Trp730Ter)
c.2349G>A (p.Trp783Ter)
c.1952G>A
c.1531G>A
c.668G>A (p.Gly223Glu)
c.2046G>A (p.Trp682Ter)
Xg.53985117C>ACA413252778PHF8c.1937G>T (p.Trp646Leu)
c.2240G>T (p.Trp747Leu)
c.*695G>T (n.*695G>T)
c.*1682G>T (n.*1682G>T)
n.1604G>T
c.2189G>T (p.Trp730Leu)
c.2348G>T (p.Trp783Leu)
c.1951G>T
c.1530G>T
c.667G>T (p.Gly223Ter)
c.2045G>T (p.Trp682Leu)
Xg.53985117C>GCA413252779PHF8c.1937G>C (p.Trp646Ser)
c.2240G>C (p.Trp747Ser)
c.*695G>C (n.*695G>C)
c.*1682G>C (n.*1682G>C)
n.1604G>C
c.2189G>C (p.Trp730Ser)
c.2348G>C (p.Trp783Ser)
c.1951G>C
c.1530G>C
c.667G>C (p.Gly223Arg)
c.2045G>C (p.Trp682Ser)
Xg.53985117C>TCA413252782PHF8c.1937G>A (p.Trp646Ter)
c.2240G>A (p.Trp747Ter)
c.*695G>A (n.*695G>A)
c.*1682G>A (n.*1682G>A)
n.1604G>A
c.2189G>A (p.Trp730Ter)
c.2348G>A (p.Trp783Ter)
c.1951G>A
c.1530G>A
c.667G>A (p.Gly223Arg)
c.2045G>A (p.Trp682Ter)
Xg.53985118A>CCA413252785PHF8c.1936T>G (p.Trp646Gly)
c.2239T>G (p.Trp747Gly)
c.*694T>G (n.*694T>G)
c.*1681T>G (n.*1681T>G)
n.1603T>G
c.2188T>G (p.Trp730Gly)
c.2347T>G (p.Trp783Gly)
c.1950T>G
c.1529T>G
c.666T>G (p.Gly222=)
c.2044T>G (p.Trp682Gly)
Xg.53985118A>GCA413252787PHF8c.1936T>C (p.Trp646Arg)
c.2239T>C (p.Trp747Arg)
c.*694T>C (n.*694T>C)
c.*1681T>C (n.*1681T>C)
n.1603T>C
c.2188T>C (p.Trp730Arg)
c.2347T>C (p.Trp783Arg)
c.1950T>C
c.1529T>C
c.666T>C (p.Gly222=)
c.2044T>C (p.Trp682Arg)
Xg.53985118A>TCA413252789PHF8c.1936T>A (p.Trp646Arg)
c.2239T>A (p.Trp747Arg)
c.*694T>A (n.*694T>A)
c.*1681T>A (n.*1681T>A)
n.1603T>A
c.2188T>A (p.Trp730Arg)
c.2347T>A (p.Trp783Arg)
c.1950T>A
c.1529T>A
c.666T>A (p.Gly222=)
c.2044T>A (p.Trp682Arg)
Xg.53985119C>ACA413252791PHF8c.1935G>T (p.Trp645Cys)
c.2238G>T (p.Trp746Cys)
c.*693G>T (n.*693G>T)
c.*1680G>T (n.*1680G>T)
n.1602G>T
c.2187G>T (p.Trp729Cys)
c.2346G>T (p.Trp782Cys)
c.1949G>T
c.1528G>T
c.665G>T (p.Gly222Val)
c.2043G>T (p.Trp681Cys)
Xg.53985119C>GCA413252793PHF8c.1935G>C (p.Trp645Cys)
c.2238G>C (p.Trp746Cys)
c.*693G>C (n.*693G>C)
c.*1680G>C (n.*1680G>C)
n.1602G>C
c.2187G>C (p.Trp729Cys)
c.2346G>C (p.Trp782Cys)
c.1949G>C
c.1528G>C
c.665G>C (p.Gly222Ala)
c.2043G>C (p.Trp681Cys)
 gnomAD v4
Xg.53985119C>TCA413252795PHF8c.1935G>A (p.Trp645Ter)
c.2238G>A (p.Trp746Ter)
c.*693G>A (n.*693G>A)
c.*1680G>A (n.*1680G>A)
n.1602G>A
c.2187G>A (p.Trp729Ter)
c.2346G>A (p.Trp782Ter)
c.1949G>A
c.1528G>A
c.665G>A (p.Gly222Asp)
c.2043G>A (p.Trp681Ter)
Xg.53985120C>ACA413252797PHF8c.1934G>T (p.Trp645Leu)
c.2237G>T (p.Trp746Leu)
c.*692G>T (n.*692G>T)
c.*1679G>T (n.*1679G>T)
n.1601G>T
c.2186G>T (p.Trp729Leu)
c.2345G>T (p.Trp782Leu)
c.1948G>T
c.1527G>T
c.664G>T (p.Gly222Cys)
c.2042G>T (p.Trp681Leu)
 gnomAD v4
Xg.53985120C>GCA413252801PHF8c.1934G>C (p.Trp645Ser)
c.2237G>C (p.Trp746Ser)
c.*692G>C (n.*692G>C)
c.*1679G>C (n.*1679G>C)
n.1601G>C
c.2186G>C (p.Trp729Ser)
c.2345G>C (p.Trp782Ser)
c.1948G>C
c.1527G>C
c.664G>C (p.Gly222Arg)
c.2042G>C (p.Trp681Ser)
Xg.53985120C>TCA413252800PHF8c.1934G>A (p.Trp645Ter)
c.2237G>A (p.Trp746Ter)
c.*692G>A (n.*692G>A)
c.*1679G>A (n.*1679G>A)
n.1601G>A
c.2186G>A (p.Trp729Ter)
c.2345G>A (p.Trp782Ter)
c.1948G>A
c.1527G>A
c.664G>A (p.Gly222Ser)
c.2042G>A (p.Trp681Ter)
Xg.53985121A>CCA413252805PHF8c.1933T>G (p.Trp645Gly)
c.2236T>G (p.Trp746Gly)
c.*691T>G (n.*691T>G)
c.*1678T>G (n.*1678T>G)
n.1600T>G
c.2185T>G (p.Trp729Gly)
c.2344T>G (p.Trp782Gly)
c.1947T>G
c.1526T>G
c.663T>G (p.Pro221=)
c.2041T>G (p.Trp681Gly)
Xg.53985121A>GCA413252807PHF8c.1933T>C (p.Trp645Arg)
c.2236T>C (p.Trp746Arg)
c.*691T>C (n.*691T>C)
c.*1678T>C (n.*1678T>C)
n.1600T>C
c.2185T>C (p.Trp729Arg)
c.2344T>C (p.Trp782Arg)
c.1947T>C
c.1526T>C
c.663T>C (p.Pro221=)
c.2041T>C (p.Trp681Arg)
Xg.53985121A>TCA413252812PHF8c.1933T>A (p.Trp645Arg)
c.2236T>A (p.Trp746Arg)
c.*691T>A (n.*691T>A)
c.*1678T>A (n.*1678T>A)
n.1600T>A
c.2185T>A (p.Trp729Arg)
c.2344T>A (p.Trp782Arg)
c.1947T>A
c.1526T>A
c.663T>A (p.Pro221=)
c.2041T>A (p.Trp681Arg)
Xg.53985122G>ACA413252816PHF8c.1932C>T (p.Ala644=)
c.2235C>T (p.Ala745=)
c.*690C>T (n.*690C>T)
c.*1677C>T (n.*1677C>T)
n.1599C>T
c.2184C>T (p.Ala728=)
c.2343C>T (p.Ala781=)
c.1946C>T
c.1525C>T
c.662C>T (p.Pro221Leu)
c.2040C>T (p.Ala680=)
 gnomAD v4
Xg.53985122G>CCA413252818PHF8c.1932C>G (p.Ala644=)
c.2235C>G (p.Ala745=)
c.*690C>G (n.*690C>G)
c.*1677C>G (n.*1677C>G)
n.1599C>G
c.2184C>G (p.Ala728=)
c.2343C>G (p.Ala781=)
c.1946C>G
c.1525C>G
c.662C>G (p.Pro221Arg)
c.2040C>G (p.Ala680=)
Xg.53985122G>TCA413252820PHF8c.1932C>A (p.Ala644=)
c.2235C>A (p.Ala745=)
c.*690C>A (n.*690C>A)
c.*1677C>A (n.*1677C>A)
n.1599C>A
c.2184C>A (p.Ala728=)
c.2343C>A (p.Ala781=)
c.1946C>A
c.1525C>A
c.662C>A (p.Pro221His)
c.2040C>A (p.Ala680=)
Xg.53985123G>ACA413252823PHF8c.1931C>T (p.Ala644Val)
c.2234C>T (p.Ala745Val)
c.*689C>T (n.*689C>T)
c.*1676C>T (n.*1676C>T)
n.1598C>T
c.2183C>T (p.Ala728Val)
c.2342C>T (p.Ala781Val)
c.1945C>T
c.1524C>T
c.661C>T (p.Pro221Ser)
c.2039C>T (p.Ala680Val)
 ClinVar dbSNP gnomAD v4
Xg.53985123G>CCA413252825PHF8c.1931C>G (p.Ala644Gly)
c.2234C>G (p.Ala745Gly)
c.*689C>G (n.*689C>G)
c.*1676C>G (n.*1676C>G)
n.1598C>G
c.2183C>G (p.Ala728Gly)
c.2342C>G (p.Ala781Gly)
c.1945C>G
c.1524C>G
c.661C>G (p.Pro221Ala)
c.2039C>G (p.Ala680Gly)
Xg.53985123G=CA2430030697PHF8c.1931C= (p.Ala644=)
c.2234C= (p.Ala745=)
c.*689C= (n.*689C=)
c.*1676C= (n.*1676C=)
n.1598C=
c.2183C= (p.Ala728=)
c.2342C= (p.Ala781=)
c.1945C=
c.1524C=
c.661C= (p.Pro221=)
c.2039C= (p.Ala680=)
Xg.53985123G>TCA413252827PHF8c.1931C>A (p.Ala644Asp)
c.2234C>A (p.Ala745Asp)
c.*689C>A (n.*689C>A)
c.*1676C>A (n.*1676C>A)
n.1598C>A
c.2183C>A (p.Ala728Asp)
c.2342C>A (p.Ala781Asp)
c.1945C>A
c.1524C>A
c.661C>A (p.Pro221Thr)
c.2039C>A (p.Ala680Asp)
Xg.53985124C>ACA413252830PHF8c.1930G>T (p.Ala644Ser)
c.2233G>T (p.Ala745Ser)
c.*688G>T (n.*688G>T)
c.*1675G>T (n.*1675G>T)
n.1597G>T
c.2182G>T (p.Ala728Ser)
c.2341G>T (p.Ala781Ser)
c.1944G>T
c.1523G>T
c.660G>T (p.Arg220Ser)
c.2038G>T (p.Ala680Ser)
Xg.53985124C>GCA413252832PHF8c.1930G>C (p.Ala644Pro)
c.2233G>C (p.Ala745Pro)
c.*688G>C (n.*688G>C)
c.*1675G>C (n.*1675G>C)
n.1597G>C
c.2182G>C (p.Ala728Pro)
c.2341G>C (p.Ala781Pro)
c.1944G>C
c.1523G>C
c.660G>C (p.Arg220Ser)
c.2038G>C (p.Ala680Pro)
Xg.53985124C>TCA413252835PHF8c.1930G>A (p.Ala644Thr)
c.2233G>A (p.Ala745Thr)
c.*688G>A (n.*688G>A)
c.*1675G>A (n.*1675G>A)
n.1597G>A
c.2182G>A (p.Ala728Thr)
c.2341G>A (p.Ala781Thr)
c.1944G>A
c.1523G>A
c.660G>A (p.Arg220=)
c.2038G>A (p.Ala680Thr)
Xg.53985125C>ACA413252838PHF8c.1929G>T (p.Gln643His)
c.2232G>T (p.Gln744His)
c.*687G>T (n.*687G>T)
c.*1674G>T (n.*1674G>T)
n.1596G>T
c.2181G>T (p.Gln727His)
c.2340G>T (p.Gln780His)
c.1943G>T
c.1522G>T
c.659G>T (p.Arg220Met)
c.2037G>T (p.Gln679His)
Xg.53985125C>GCA413252836PHF8c.1929G>C (p.Gln643His)
c.2232G>C (p.Gln744His)
c.*687G>C (n.*687G>C)
c.*1674G>C (n.*1674G>C)
n.1596G>C
c.2181G>C (p.Gln727His)
c.2340G>C (p.Gln780His)
c.1943G>C
c.1522G>C
c.659G>C (p.Arg220Thr)
c.2037G>C (p.Gln679His)
Xg.53985125C>TCA413252837PHF8c.1929G>A (p.Gln643=)
c.2232G>A (p.Gln744=)
c.*687G>A (n.*687G>A)
c.*1674G>A (n.*1674G>A)
n.1596G>A
c.2181G>A (p.Gln727=)
c.2340G>A (p.Gln780=)
c.1943G>A
c.1522G>A
c.659G>A (p.Arg220Lys)
c.2037G>A (p.Gln679=)
Xg.53985126T>ACA413252840PHF8c.1928A>T (p.Gln643Leu)
c.2231A>T (p.Gln744Leu)
c.*686A>T (n.*686A>T)
c.*1673A>T (n.*1673A>T)
n.1595A>T
c.2180A>T (p.Gln727Leu)
c.2339A>T (p.Gln780Leu)
c.1942A>T
c.1521A>T
c.658A>T (p.Arg220Trp)
c.2036A>T (p.Gln679Leu)
Xg.53985126T>CCA413252842PHF8c.1928A>G (p.Gln643Arg)
c.2231A>G (p.Gln744Arg)
c.*686A>G (n.*686A>G)
c.*1673A>G (n.*1673A>G)
n.1595A>G
c.2180A>G (p.Gln727Arg)
c.2339A>G (p.Gln780Arg)
c.1942A>G
c.1521A>G
c.658A>G (p.Arg220Gly)
c.2036A>G (p.Gln679Arg)
Xg.53985126T>GCA413252843PHF8c.1928A>C (p.Gln643Pro)
c.2231A>C (p.Gln744Pro)
c.*686A>C (n.*686A>C)
c.*1673A>C (n.*1673A>C)
n.1595A>C
c.2180A>C (p.Gln727Pro)
c.2339A>C (p.Gln780Pro)
c.1942A>C
c.1521A>C
c.658A>C (p.Arg220=)
c.2036A>C (p.Gln679Pro)
Xg.53985127G>ACA413252845PHF8c.1927C>T (p.Gln643Ter)
c.2230C>T (p.Gln744Ter)
c.*685C>T (n.*685C>T)
c.*1672C>T (n.*1672C>T)
n.1594C>T
c.2179C>T (p.Gln727Ter)
c.2338C>T (p.Gln780Ter)
c.1941C>T
c.1520C>T
c.657C>T (p.Cys219=)
c.2035C>T (p.Gln679Ter)
Xg.53985127G>CCA413252846PHF8c.1927C>G (p.Gln643Glu)
c.2230C>G (p.Gln744Glu)
c.*685C>G (n.*685C>G)
c.*1672C>G (n.*1672C>G)
n.1594C>G
c.2179C>G (p.Gln727Glu)
c.2338C>G (p.Gln780Glu)
c.1941C>G
c.1520C>G
c.657C>G (p.Cys219Trp)
c.2035C>G (p.Gln679Glu)
Xg.53985127G>TCA413252847PHF8c.1927C>A (p.Gln643Lys)
c.2230C>A (p.Gln744Lys)
c.*685C>A (n.*685C>A)
c.*1672C>A (n.*1672C>A)
n.1594C>A
c.2179C>A (p.Gln727Lys)
c.2338C>A (p.Gln780Lys)
c.1941C>A
c.1520C>A
c.657C>A (p.Cys219Ter)
c.2035C>A (p.Gln679Lys)
Xg.53985128C>ACA413252850PHF8c.1926G>T (p.Leu642=)
c.2229G>T (p.Leu743=)
c.*684G>T (n.*684G>T)
c.*1671G>T (n.*1671G>T)
n.1593G>T
c.2178G>T (p.Leu726=)
c.2337G>T (p.Leu779=)
c.1940G>T
c.1519G>T
c.656G>T (p.Cys219Phe)
c.2034G>T (p.Leu678=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985128C=CA2430030698PHF8c.1926G= (p.Leu642=)
c.2229G= (p.Leu743=)
c.*684G= (n.*684G=)
c.*1671G= (n.*1671G=)
n.1593G=
c.2178G= (p.Leu726=)
c.2337G= (p.Leu779=)
c.1940G=
c.1519G=
c.656G= (p.Cys219=)
c.2034G= (p.Leu678=)
Xg.53985128C>GCA413252853PHF8c.1926G>C (p.Leu642=)
c.2229G>C (p.Leu743=)
c.*684G>C (n.*684G>C)
c.*1671G>C (n.*1671G>C)
n.1593G>C
c.2178G>C (p.Leu726=)
c.2337G>C (p.Leu779=)
c.1940G>C
c.1519G>C
c.656G>C (p.Cys219Ser)
c.2034G>C (p.Leu678=)
Xg.53985128C>TCA413252855PHF8c.1926G>A (p.Leu642=)
c.2229G>A (p.Leu743=)
c.*684G>A (n.*684G>A)
c.*1671G>A (n.*1671G>A)
n.1593G>A
c.2178G>A (p.Leu726=)
c.2337G>A (p.Leu779=)
c.1940G>A
c.1519G>A
c.656G>A (p.Cys219Tyr)
c.2034G>A (p.Leu678=)
 gnomAD v4
Xg.53985129A>CCA413252858PHF8c.1925T>G (p.Leu642Arg)
c.2228T>G (p.Leu743Arg)
c.*683T>G (n.*683T>G)
c.*1670T>G (n.*1670T>G)
n.1592T>G
c.2177T>G (p.Leu726Arg)
c.2336T>G (p.Leu779Arg)
c.1939T>G
c.1518T>G
c.655T>G (p.Cys219Gly)
c.2033T>G (p.Leu678Arg)
Xg.53985129A>GCA413252860PHF8c.1925T>C (p.Leu642Pro)
c.2228T>C (p.Leu743Pro)
c.*683T>C (n.*683T>C)
c.*1670T>C (n.*1670T>C)
n.1592T>C
c.2177T>C (p.Leu726Pro)
c.2336T>C (p.Leu779Pro)
c.1939T>C
c.1518T>C
c.655T>C (p.Cys219Arg)
c.2033T>C (p.Leu678Pro)
Xg.53985129A>TCA413252862PHF8c.1925T>A (p.Leu642Gln)
c.2228T>A (p.Leu743Gln)
c.*683T>A (n.*683T>A)
c.*1670T>A (n.*1670T>A)
n.1592T>A
c.2177T>A (p.Leu726Gln)
c.2336T>A (p.Leu779Gln)
c.1939T>A
c.1518T>A
c.655T>A (p.Cys219Ser)
c.2033T>A (p.Leu678Gln)
Xg.53985130G>ACA329924352PHF8c.1924C>T (p.Leu642=)
c.2227C>T (p.Leu743=)
c.*682C>T (n.*682C>T)
c.*1669C>T (n.*1669C>T)
n.1591C>T
c.2176C>T (p.Leu726=)
c.2335C>T (p.Leu779=)
c.1938C>T
c.1517C>T
c.654C>T (p.Ala218=)
c.2032C>T (p.Leu678=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985130G>CCA413252864PHF8c.1924C>G (p.Leu642Val)
c.2227C>G (p.Leu743Val)
c.*682C>G (n.*682C>G)
c.*1669C>G (n.*1669C>G)
n.1591C>G
c.2176C>G (p.Leu726Val)
c.2335C>G (p.Leu779Val)
c.1938C>G
c.1517C>G
c.654C>G (p.Ala218=)
c.2032C>G (p.Leu678Val)
Xg.53985130G=CA2430030699PHF8c.1924C= (p.Leu642=)
c.2227C= (p.Leu743=)
c.*682C= (n.*682C=)
c.*1669C= (n.*1669C=)
n.1591C=
c.2176C= (p.Leu726=)
c.2335C= (p.Leu779=)
c.1938C=
c.1517C=
c.654C= (p.Ala218=)
c.2032C= (p.Leu678=)
Xg.53985130G>TCA413252866PHF8c.1924C>A (p.Leu642Met)
c.2227C>A (p.Leu743Met)
c.*682C>A (n.*682C>A)
c.*1669C>A (n.*1669C>A)
n.1591C>A
c.2176C>A (p.Leu726Met)
c.2335C>A (p.Leu779Met)
c.1938C>A
c.1517C>A
c.654C>A (p.Ala218=)
c.2032C>A (p.Leu678Met)
 gnomAD v4
Xg.53985131G>ACA413252869PHF8c.1923C>T (p.Ser641=)
c.2226C>T (p.Ser742=)
c.*681C>T (n.*681C>T)
c.*1668C>T (n.*1668C>T)
n.1590C>T
c.2175C>T (p.Ser725=)
c.2334C>T (p.Ser778=)
c.1937C>T
c.1516C>T
c.653C>T (p.Ala218Val)
c.2031C>T (p.Ser677=)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985131G>CCA413252871PHF8c.1923C>G (p.Ser641Arg)
c.2226C>G (p.Ser742Arg)
c.*681C>G (n.*681C>G)
c.*1668C>G (n.*1668C>G)
n.1590C>G
c.2175C>G (p.Ser725Arg)
c.2334C>G (p.Ser778Arg)
c.1937C>G
c.1516C>G
c.653C>G (p.Ala218Gly)
c.2031C>G (p.Ser677Arg)
Xg.53985131G=CA2430030700PHF8c.1923C= (p.Ser641=)
c.2226C= (p.Ser742=)
c.*681C= (n.*681C=)
c.*1668C= (n.*1668C=)
n.1590C=
c.2175C= (p.Ser725=)
c.2334C= (p.Ser778=)
c.1937C=
c.1516C=
c.653C= (p.Ala218=)
c.2031C= (p.Ser677=)
Xg.53985131G>TCA413252873PHF8c.1923C>A (p.Ser641Arg)
c.2226C>A (p.Ser742Arg)
c.*681C>A (n.*681C>A)
c.*1668C>A (n.*1668C>A)
n.1590C>A
c.2175C>A (p.Ser725Arg)
c.2334C>A (p.Ser778Arg)
c.1937C>A
c.1516C>A
c.653C>A (p.Ala218Asp)
c.2031C>A (p.Ser677Arg)
Xg.53985132C>ACA413252877PHF8c.1922G>T (p.Ser641Ile)
c.2225G>T (p.Ser742Ile)
c.*680G>T (n.*680G>T)
c.*1667G>T (n.*1667G>T)
n.1589G>T
c.2174G>T (p.Ser725Ile)
c.2333G>T (p.Ser778Ile)
c.1936G>T
c.1515G>T
c.652G>T (p.Ala218Ser)
c.2030G>T (p.Ser677Ile)
Xg.53985132C>GCA413252879PHF8c.1922G>C (p.Ser641Thr)
c.2225G>C (p.Ser742Thr)
c.*680G>C (n.*680G>C)
c.*1667G>C (n.*1667G>C)
n.1589G>C
c.2174G>C (p.Ser725Thr)
c.2333G>C (p.Ser778Thr)
c.1936G>C
c.1515G>C
c.652G>C (p.Ala218Pro)
c.2030G>C (p.Ser677Thr)
Xg.53985132C>TCA413252881PHF8c.1922G>A (p.Ser641Asn)
c.2225G>A (p.Ser742Asn)
c.*680G>A (n.*680G>A)
c.*1667G>A (n.*1667G>A)
n.1589G>A
c.2174G>A (p.Ser725Asn)
c.2333G>A (p.Ser778Asn)
c.1936G>A
c.1515G>A
c.652G>A (p.Ala218Thr)
c.2030G>A (p.Ser677Asn)
Xg.53985132dupCA658799761PHF8c.1922dup (p.Ser641ArgfsTer26)
c.2225dup (p.Ser742ArgfsTer26)
c.*680dup (n.*680dup)
c.*1667dup (n.*1667dup)
n.1589dup
c.2174dup (p.Ser725ArgfsTer26)
c.2333dup (p.Ser778ArgfsTer26)
c.1936dup
c.1515dup
c.652dup (p.Ala218GlyfsTer?)
c.2030dup (p.Ser677ArgfsTer26)
 ClinVar dbSNP
Xg.53985133T>ACA413252888PHF8c.1921A>T (p.Ser641Cys)
c.2224A>T (p.Ser742Cys)
c.*679A>T (n.*679A>T)
c.*1666A>T (n.*1666A>T)
n.1588A>T
c.2173A>T (p.Ser725Cys)
c.2332A>T (p.Ser778Cys)
c.1935A>T
c.1514A>T
c.651A>T (p.Leu217=)
c.2029A>T (p.Ser677Cys)
Xg.53985133T>CCA413252886PHF8c.1921A>G (p.Ser641Gly)
c.2224A>G (p.Ser742Gly)
c.*679A>G (n.*679A>G)
c.*1666A>G (n.*1666A>G)
n.1588A>G
c.2173A>G (p.Ser725Gly)
c.2332A>G (p.Ser778Gly)
c.1935A>G
c.1514A>G
c.651A>G (p.Leu217=)
c.2029A>G (p.Ser677Gly)
Xg.53985133T>GCA413252884PHF8c.1921A>C (p.Ser641Arg)
c.2224A>C (p.Ser742Arg)
c.*679A>C (n.*679A>C)
c.*1666A>C (n.*1666A>C)
n.1588A>C
c.2173A>C (p.Ser725Arg)
c.2332A>C (p.Ser778Arg)
c.1935A>C
c.1514A>C
c.651A>C (p.Leu217=)
c.2029A>C (p.Ser677Arg)
Xg.53985134A>CCA413252890PHF8c.1920T>G (p.Ser640=)
c.2223T>G (p.Ser741=)
c.*678T>G (n.*678T>G)
c.*1665T>G (n.*1665T>G)
n.1587T>G
c.2172T>G (p.Ser724=)
c.2331T>G (p.Ser777=)
c.1934T>G
c.1513T>G
c.650T>G (p.Leu217Arg)
c.2028T>G (p.Ser676=)
 gnomAD v4
Xg.53985134A>GCA413252892PHF8c.1920T>C (p.Ser640=)
c.2223T>C (p.Ser741=)
c.*678T>C (n.*678T>C)
c.*1665T>C (n.*1665T>C)
n.1587T>C
c.2172T>C (p.Ser724=)
c.2331T>C (p.Ser777=)
c.1934T>C
c.1513T>C
c.650T>C (p.Leu217Pro)
c.2028T>C (p.Ser676=)
Xg.53985134A>TCA413252895PHF8c.1920T>A (p.Ser640=)
c.2223T>A (p.Ser741=)
c.*678T>A (n.*678T>A)
c.*1665T>A (n.*1665T>A)
n.1587T>A
c.2172T>A (p.Ser724=)
c.2331T>A (p.Ser777=)
c.1934T>A
c.1513T>A
c.650T>A (p.Leu217Gln)
c.2028T>A (p.Ser676=)
Xg.53985135G>ACA413252899PHF8c.1919C>T (p.Ser640Phe)
c.2222C>T (p.Ser741Phe)
c.*677C>T (n.*677C>T)
c.*1664C>T (n.*1664C>T)
n.1586C>T
c.2171C>T (p.Ser724Phe)
c.2330C>T (p.Ser777Phe)
c.1933C>T
c.1512C>T
c.649C>T (p.Leu217=)
c.2027C>T (p.Ser676Phe)
Xg.53985135G>CCA413252901PHF8c.1919C>G (p.Ser640Cys)
c.2222C>G (p.Ser741Cys)
c.*677C>G (n.*677C>G)
c.*1664C>G (n.*1664C>G)
n.1586C>G
c.2171C>G (p.Ser724Cys)
c.2330C>G (p.Ser777Cys)
c.1933C>G
c.1512C>G
c.649C>G (p.Leu217Val)
c.2027C>G (p.Ser676Cys)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985135G>TCA413252903PHF8c.1919C>A (p.Ser640Tyr)
c.2222C>A (p.Ser741Tyr)
c.*677C>A (n.*677C>A)
c.*1664C>A (n.*1664C>A)
n.1586C>A
c.2171C>A (p.Ser724Tyr)
c.2330C>A (p.Ser777Tyr)
c.1933C>A
c.1512C>A
c.649C>A (p.Leu217Ile)
c.2027C>A (p.Ser676Tyr)
Xg.53985139_53985150delCA2693828192PHF8c.1908_1919del (p.Pro637_Ser640del)
c.2211_2222del (p.Pro738_Ser741del)
c.*666_*677del (n.*666_*677del)
c.*1653_*1664del (n.*1653_*1664del)
n.1575_1586del
c.2160_2171del (p.Pro721_Ser724del)
c.2319_2330del (p.Pro774_Ser777del)
c.1922_1933del
c.1501_1512del
c.638_649del (p.His213_Pro216del)
c.2016_2027del (p.Pro673_Ser676del)
 gnomAD v4
Xg.53985136A>CCA413252906PHF8c.1918T>G (p.Ser640Ala)
c.2221T>G (p.Ser741Ala)
c.*676T>G (n.*676T>G)
c.*1663T>G (n.*1663T>G)
n.1585T>G
c.2170T>G (p.Ser724Ala)
c.2329T>G (p.Ser777Ala)
c.1932T>G
c.1511T>G
c.648T>G (p.Pro216=)
c.2026T>G (p.Ser676Ala)
Xg.53985136A>GCA413252911PHF8c.1918T>C (p.Ser640Pro)
c.2221T>C (p.Ser741Pro)
c.*676T>C (n.*676T>C)
c.*1663T>C (n.*1663T>C)
n.1585T>C
c.2170T>C (p.Ser724Pro)
c.2329T>C (p.Ser777Pro)
c.1932T>C
c.1511T>C
c.648T>C (p.Pro216=)
c.2026T>C (p.Ser676Pro)
Xg.53985136A>TCA413252908PHF8c.1918T>A (p.Ser640Thr)
c.2221T>A (p.Ser741Thr)
c.*676T>A (n.*676T>A)
c.*1663T>A (n.*1663T>A)
n.1585T>A
c.2170T>A (p.Ser724Thr)
c.2329T>A (p.Ser777Thr)
c.1932T>A
c.1511T>A
c.648T>A (p.Pro216=)
c.2026T>A (p.Ser676Thr)
Xg.53985137G>ACA10423319PHF8c.1917C>T (p.Thr639=)
c.2220C>T (p.Thr740=)
c.*675C>T (n.*675C>T)
c.*1662C>T (n.*1662C>T)
n.1584C>T
c.2169C>T (p.Thr723=)
c.2328C>T (p.Thr776=)
c.1931C>T
c.1510C>T
c.647C>T (p.Pro216Leu)
c.2025C>T (p.Thr675=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985137G>CCA413252915PHF8c.1917C>G (p.Thr639=)
c.2220C>G (p.Thr740=)
c.*675C>G (n.*675C>G)
c.*1662C>G (n.*1662C>G)
n.1584C>G
c.2169C>G (p.Thr723=)
c.2328C>G (p.Thr776=)
c.1931C>G
c.1510C>G
c.647C>G (p.Pro216Arg)
c.2025C>G (p.Thr675=)
 dbSNP
Xg.53985137G=CA2430030701PHF8c.1917C= (p.Thr639=)
c.2220C= (p.Thr740=)
c.*675C= (n.*675C=)
c.*1662C= (n.*1662C=)
n.1584C=
c.2169C= (p.Thr723=)
c.2328C= (p.Thr776=)
c.1931C=
c.1510C=
c.647C= (p.Pro216=)
c.2025C= (p.Thr675=)
Xg.53985137G>TCA413252917PHF8c.1917C>A (p.Thr639=)
c.2220C>A (p.Thr740=)
c.*675C>A (n.*675C>A)
c.*1662C>A (n.*1662C>A)
n.1584C>A
c.2169C>A (p.Thr723=)
c.2328C>A (p.Thr776=)
c.1931C>A
c.1510C>A
c.647C>A (p.Pro216His)
c.2025C>A (p.Thr675=)
Xg.53985138G>ACA413252919PHF8c.1916C>T (p.Thr639Ile)
c.2219C>T (p.Thr740Ile)
c.*674C>T (n.*674C>T)
c.*1661C>T (n.*1661C>T)
n.1583C>T
c.2168C>T (p.Thr723Ile)
c.2327C>T (p.Thr776Ile)
c.1930C>T
c.1509C>T
c.646C>T (p.Pro216Ser)
c.2024C>T (p.Thr675Ile)
 gnomAD v4
Xg.53985138G>CCA413252921PHF8c.1916C>G (p.Thr639Ser)
c.2219C>G (p.Thr740Ser)
c.*674C>G (n.*674C>G)
c.*1661C>G (n.*1661C>G)
n.1583C>G
c.2168C>G (p.Thr723Ser)
c.2327C>G (p.Thr776Ser)
c.1930C>G
c.1509C>G
c.646C>G (p.Pro216Ala)
c.2024C>G (p.Thr675Ser)
Xg.53985138G>TCA413252923PHF8c.1916C>A (p.Thr639Asn)
c.2219C>A (p.Thr740Asn)
c.*674C>A (n.*674C>A)
c.*1661C>A (n.*1661C>A)
n.1583C>A
c.2168C>A (p.Thr723Asn)
c.2327C>A (p.Thr776Asn)
c.1930C>A
c.1509C>A
c.646C>A (p.Pro216Thr)
c.2024C>A (p.Thr675Asn)
Xg.53985139T>ACA413252926PHF8c.1915A>T (p.Thr639Ser)
c.2218A>T (p.Thr740Ser)
c.*673A>T (n.*673A>T)
c.*1660A>T (n.*1660A>T)
n.1582A>T
c.2167A>T (p.Thr723Ser)
c.2326A>T (p.Thr776Ser)
c.1929A>T
c.1508A>T
c.645A>T (p.Leu215=)
c.2023A>T (p.Thr675Ser)
Xg.53985139T>CCA10423320PHF8c.1915A>G (p.Thr639Ala)
c.2218A>G (p.Thr740Ala)
c.*673A>G (n.*673A>G)
c.*1660A>G (n.*1660A>G)
n.1582A>G
c.2167A>G (p.Thr723Ala)
c.2326A>G (p.Thr776Ala)
c.1929A>G
c.1508A>G
c.645A>G (p.Leu215=)
c.2023A>G (p.Thr675Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985139T>GCA413252930PHF8c.1915A>C (p.Thr639Pro)
c.2218A>C (p.Thr740Pro)
c.*673A>C (n.*673A>C)
c.*1660A>C (n.*1660A>C)
n.1582A>C
c.2167A>C (p.Thr723Pro)
c.2326A>C (p.Thr776Pro)
c.1929A>C
c.1508A>C
c.645A>C (p.Leu215=)
c.2023A>C (p.Thr675Pro)
Xg.53985139T=CA2430030702PHF8c.1915A= (p.Thr639=)
c.2218A= (p.Thr740=)
c.*673A= (n.*673A=)
c.*1660A= (n.*1660A=)
n.1582A=
c.2167A= (p.Thr723=)
c.2326A= (p.Thr776=)
c.1929A=
c.1508A=
c.645A= (p.Leu215=)
c.2023A= (p.Thr675=)
Xg.53985140A=CA2430030703PHF8c.1914T= (p.Ala638=)
c.2217T= (p.Ala739=)
c.*672T= (n.*672T=)
c.*1659T= (n.*1659T=)
n.1581T=
c.2166T= (p.Ala722=)
c.2325T= (p.Ala775=)
c.1928T=
c.1507T=
c.644T= (p.Leu215=)
c.2022T= (p.Ala674=)
Xg.53985140A>CCA413252934PHF8c.1914T>G (p.Ala638=)
c.2217T>G (p.Ala739=)
c.*672T>G (n.*672T>G)
c.*1659T>G (n.*1659T>G)
n.1581T>G
c.2166T>G (p.Ala722=)
c.2325T>G (p.Ala775=)
c.1928T>G
c.1507T>G
c.644T>G (p.Leu215Arg)
c.2022T>G (p.Ala674=)
Xg.53985140A>GCA413252935PHF8c.1914T>C (p.Ala638=)
c.2217T>C (p.Ala739=)
c.*672T>C (n.*672T>C)
c.*1659T>C (n.*1659T>C)
n.1581T>C
c.2166T>C (p.Ala722=)
c.2325T>C (p.Ala775=)
c.1928T>C
c.1507T>C
c.644T>C (p.Leu215Pro)
c.2022T>C (p.Ala674=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985140A>TCA413252937PHF8c.1914T>A (p.Ala638=)
c.2217T>A (p.Ala739=)
c.*672T>A (n.*672T>A)
c.*1659T>A (n.*1659T>A)
n.1581T>A
c.2166T>A (p.Ala722=)
c.2325T>A (p.Ala775=)
c.1928T>A
c.1507T>A
c.644T>A (p.Leu215Gln)
c.2022T>A (p.Ala674=)
Xg.53985141G>ACA413252940PHF8c.1913C>T (p.Ala638Val)
c.2216C>T (p.Ala739Val)
c.*671C>T (n.*671C>T)
c.*1658C>T (n.*1658C>T)
n.1580C>T
c.2165C>T (p.Ala722Val)
c.2324C>T (p.Ala775Val)
c.1927C>T
c.1506C>T
c.643C>T (p.Leu215=)
c.2021C>T (p.Ala674Val)
Xg.53985141G>CCA413252944PHF8c.1913C>G (p.Ala638Gly)
c.2216C>G (p.Ala739Gly)
c.*671C>G (n.*671C>G)
c.*1658C>G (n.*1658C>G)
n.1580C>G
c.2165C>G (p.Ala722Gly)
c.2324C>G (p.Ala775Gly)
c.1927C>G
c.1506C>G
c.643C>G (p.Leu215Val)
c.2021C>G (p.Ala674Gly)
Xg.53985141G>TCA413252942PHF8c.1913C>A (p.Ala638Asp)
c.2216C>A (p.Ala739Asp)
c.*671C>A (n.*671C>A)
c.*1658C>A (n.*1658C>A)
n.1580C>A
c.2165C>A (p.Ala722Asp)
c.2324C>A (p.Ala775Asp)
c.1927C>A
c.1506C>A
c.643C>A (p.Leu215Ile)
c.2021C>A (p.Ala674Asp)
 gnomAD v4
Xg.53985142C>ACA413252946PHF8c.1912G>T (p.Ala638Ser)
c.2215G>T (p.Ala739Ser)
c.*670G>T (n.*670G>T)
c.*1657G>T (n.*1657G>T)
n.1579G>T
c.2164G>T (p.Ala722Ser)
c.2323G>T (p.Ala775Ser)
c.1926G>T
c.1505G>T
c.642G>T (p.Arg214=)
c.2020G>T (p.Ala674Ser)
Xg.53985142C>GCA413252948PHF8c.1912G>C (p.Ala638Pro)
c.2215G>C (p.Ala739Pro)
c.*670G>C (n.*670G>C)
c.*1657G>C (n.*1657G>C)
n.1579G>C
c.2164G>C (p.Ala722Pro)
c.2323G>C (p.Ala775Pro)
c.1926G>C
c.1505G>C
c.642G>C (p.Arg214=)
c.2020G>C (p.Ala674Pro)
Xg.53985142C>TCA413252950PHF8c.1912G>A (p.Ala638Thr)
c.2215G>A (p.Ala739Thr)
c.*670G>A (n.*670G>A)
c.*1657G>A (n.*1657G>A)
n.1579G>A
c.2164G>A (p.Ala722Thr)
c.2323G>A (p.Ala775Thr)
c.1926G>A
c.1505G>A
c.642G>A (p.Arg214=)
c.2020G>A (p.Ala674Thr)
Xg.53985143C>ACA413252952PHF8c.1911G>T (p.Pro637=)
c.2214G>T (p.Pro738=)
c.*669G>T (n.*669G>T)
c.*1656G>T (n.*1656G>T)
n.1578G>T
c.2163G>T (p.Pro721=)
c.2322G>T (p.Pro774=)
c.1925G>T
c.1504G>T
c.641G>T (p.Arg214Leu)
c.2019G>T (p.Pro673=)
Xg.53985143C=CA2430030704PHF8c.1911G= (p.Pro637=)
c.2214G= (p.Pro738=)
c.*669G= (n.*669G=)
c.*1656G= (n.*1656G=)
n.1578G=
c.2163G= (p.Pro721=)
c.2322G= (p.Pro774=)
c.1925G=
c.1504G=
c.641G= (p.Arg214=)
c.2019G= (p.Pro673=)
Xg.53985143C>GCA413252955PHF8c.1911G>C (p.Pro637=)
c.2214G>C (p.Pro738=)
c.*669G>C (n.*669G>C)
c.*1656G>C (n.*1656G>C)
n.1578G>C
c.2163G>C (p.Pro721=)
c.2322G>C (p.Pro774=)
c.1925G>C
c.1504G>C
c.641G>C (p.Arg214Pro)
c.2019G>C (p.Pro673=)
Xg.53985143C>TCA10423321PHF8c.1911G>A (p.Pro637=)
c.2214G>A (p.Pro738=)
c.*669G>A (n.*669G>A)
c.*1656G>A (n.*1656G>A)
n.1578G>A
c.2163G>A (p.Pro721=)
c.2322G>A (p.Pro774=)
c.1925G>A
c.1504G>A
c.641G>A (p.Arg214Gln)
c.2019G>A (p.Pro673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985144G>ACA10423322PHF8c.1910C>T (p.Pro637Leu)
c.2213C>T (p.Pro738Leu)
c.*668C>T (n.*668C>T)
c.*1655C>T (n.*1655C>T)
n.1577C>T
c.2162C>T (p.Pro721Leu)
c.2321C>T (p.Pro774Leu)
c.1924C>T
c.1503C>T
c.640C>T (p.Arg214Trp)
c.2018C>T (p.Pro673Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985144G>CCA413252957PHF8c.1910C>G (p.Pro637Arg)
c.2213C>G (p.Pro738Arg)
c.*668C>G (n.*668C>G)
c.*1655C>G (n.*1655C>G)
n.1577C>G
c.2162C>G (p.Pro721Arg)
c.2321C>G (p.Pro774Arg)
c.1924C>G
c.1503C>G
c.640C>G (p.Arg214Gly)
c.2018C>G (p.Pro673Arg)
Xg.53985144G=CA2430030705PHF8c.1910C= (p.Pro637=)
c.2213C= (p.Pro738=)
c.*668C= (n.*668C=)
c.*1655C= (n.*1655C=)
n.1577C=
c.2162C= (p.Pro721=)
c.2321C= (p.Pro774=)
c.1924C=
c.1503C=
c.640C= (p.Arg214=)
c.2018C= (p.Pro673=)
Xg.53985144G>TCA413252959PHF8c.1910C>A (p.Pro637Gln)
c.2213C>A (p.Pro738Gln)
c.*668C>A (n.*668C>A)
c.*1655C>A (n.*1655C>A)
n.1577C>A
c.2162C>A (p.Pro721Gln)
c.2321C>A (p.Pro774Gln)
c.1924C>A
c.1503C>A
c.640C>A (p.Arg214=)
c.2018C>A (p.Pro673Gln)
 gnomAD v4
Xg.53985145G>ACA413252962PHF8c.1909C>T (p.Pro637Ser)
c.2212C>T (p.Pro738Ser)
c.*667C>T (n.*667C>T)
c.*1654C>T (n.*1654C>T)
n.1576C>T
c.2161C>T (p.Pro721Ser)
c.2320C>T (p.Pro774Ser)
c.1923C>T
c.1502C>T
c.639C>T (p.His213=)
c.2017C>T (p.Pro673Ser)
Xg.53985145G>CCA413252964PHF8c.1909C>G (p.Pro637Ala)
c.2212C>G (p.Pro738Ala)
c.*667C>G (n.*667C>G)
c.*1654C>G (n.*1654C>G)
n.1576C>G
c.2161C>G (p.Pro721Ala)
c.2320C>G (p.Pro774Ala)
c.1923C>G
c.1502C>G
c.639C>G (p.His213Gln)
c.2017C>G (p.Pro673Ala)
Xg.53985145G>TCA413252965PHF8c.1909C>A (p.Pro637Thr)
c.2212C>A (p.Pro738Thr)
c.*667C>A (n.*667C>A)
c.*1654C>A (n.*1654C>A)
n.1576C>A
c.2161C>A (p.Pro721Thr)
c.2320C>A (p.Pro774Thr)
c.1923C>A
c.1502C>A
c.639C>A (p.His213Gln)
c.2017C>A (p.Pro673Thr)
Xg.53985146T>ACA413252972PHF8c.1908A>T (p.Ser636=)
c.2211A>T (p.Ser737=)
c.*666A>T (n.*666A>T)
c.*1653A>T (n.*1653A>T)
n.1575A>T
c.2160A>T (p.Ser720=)
c.2319A>T (p.Ser773=)
c.1922A>T
c.1501A>T
c.638A>T (p.His213Leu)
c.2016A>T (p.Ser672=)
Xg.53985146T>CCA10423323PHF8c.1908A>G (p.Ser636=)
c.2211A>G (p.Ser737=)
c.*666A>G (n.*666A>G)
c.*1653A>G (n.*1653A>G)
n.1575A>G
c.2160A>G (p.Ser720=)
c.2319A>G (p.Ser773=)
c.1922A>G
c.1501A>G
c.638A>G (p.His213Arg)
c.2016A>G (p.Ser672=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985146T>GCA413252968PHF8c.1908A>C (p.Ser636=)
c.2211A>C (p.Ser737=)
c.*666A>C (n.*666A>C)
c.*1653A>C (n.*1653A>C)
n.1575A>C
c.2160A>C (p.Ser720=)
c.2319A>C (p.Ser773=)
c.1922A>C
c.1501A>C
c.638A>C (p.His213Pro)
c.2016A>C (p.Ser672=)
Xg.53985146T=CA2430030706PHF8c.1908A= (p.Ser636=)
c.2211A= (p.Ser737=)
c.*666A= (n.*666A=)
c.*1653A= (n.*1653A=)
n.1575A=
c.2160A= (p.Ser720=)
c.2319A= (p.Ser773=)
c.1922A=
c.1501A=
c.638A= (p.His213=)
c.2016A= (p.Ser672=)
Xg.53985147G>ACA413252974PHF8c.1907C>T (p.Ser636Leu)
c.2210C>T (p.Ser737Leu)
c.*665C>T (n.*665C>T)
c.*1652C>T (n.*1652C>T)
n.1574C>T
c.2159C>T (p.Ser720Leu)
c.2318C>T (p.Ser773Leu)
c.1921C>T
c.1500C>T
c.637C>T (p.His213Tyr)
c.2015C>T (p.Ser672Leu)
Xg.53985147G>CCA201396PHF8c.1907C>G (p.Ser636Ter)
c.2210C>G (p.Ser737Ter)
c.*665C>G (n.*665C>G)
c.*1652C>G (n.*1652C>G)
n.1574C>G
c.2159C>G (p.Ser720Ter)
c.2318C>G (p.Ser773Ter)
c.1921C>G
c.1500C>G
c.637C>G (p.His213Asp)
c.2015C>G (p.Ser672Ter)
 ClinVar dbSNP
Xg.53985147G=CA2430030707PHF8c.1907C= (p.Ser636=)
c.2210C= (p.Ser737=)
c.*665C= (n.*665C=)
c.*1652C= (n.*1652C=)
n.1574C=
c.2159C= (p.Ser720=)
c.2318C= (p.Ser773=)
c.1921C=
c.1500C=
c.637C= (p.His213=)
c.2015C= (p.Ser672=)
Xg.53985147G>TCA413252979PHF8c.1907C>A (p.Ser636Ter)
c.2210C>A (p.Ser737Ter)
c.*665C>A (n.*665C>A)
c.*1652C>A (n.*1652C>A)
n.1574C>A
c.2159C>A (p.Ser720Ter)
c.2318C>A (p.Ser773Ter)
c.1921C>A
c.1500C>A
c.637C>A (p.His213Asn)
c.2015C>A (p.Ser672Ter)
Xg.53985148A>CCA413252982PHF8c.1906T>G (p.Ser636Ala)
c.2209T>G (p.Ser737Ala)
c.*664T>G (n.*664T>G)
c.*1651T>G (n.*1651T>G)
n.1573T>G
c.2158T>G (p.Ser720Ala)
c.2317T>G (p.Ser773Ala)
c.1920T>G
c.1499T>G
c.636T>G (p.Pro212=)
c.2014T>G (p.Ser672Ala)
Xg.53985148A>GCA413252984PHF8c.1906T>C (p.Ser636Pro)
c.2209T>C (p.Ser737Pro)
c.*664T>C (n.*664T>C)
c.*1651T>C (n.*1651T>C)
n.1573T>C
c.2158T>C (p.Ser720Pro)
c.2317T>C (p.Ser773Pro)
c.1920T>C
c.1499T>C
c.636T>C (p.Pro212=)
c.2014T>C (p.Ser672Pro)
Xg.53985148A>TCA413252986PHF8c.1906T>A (p.Ser636Thr)
c.2209T>A (p.Ser737Thr)
c.*664T>A (n.*664T>A)
c.*1651T>A (n.*1651T>A)
n.1573T>A
c.2158T>A (p.Ser720Thr)
c.2317T>A (p.Ser773Thr)
c.1920T>A
c.1499T>A
c.636T>A (p.Pro212=)
c.2014T>A (p.Ser672Thr)
Xg.53985149G>ACA413252989PHF8c.1905C>T (p.Ser635=)
c.2208C>T (p.Ser736=)
c.*663C>T (n.*663C>T)
c.*1650C>T (n.*1650C>T)
n.1572C>T
c.2157C>T (p.Ser719=)
c.2316C>T (p.Ser772=)
c.1919C>T
c.1498C>T
c.635C>T (p.Pro212Leu)
c.2013C>T (p.Ser671=)
Xg.53985149G>CCA413252990PHF8c.1905C>G (p.Ser635=)
c.2208C>G (p.Ser736=)
c.*663C>G (n.*663C>G)
c.*1650C>G (n.*1650C>G)
n.1572C>G
c.2157C>G (p.Ser719=)
c.2316C>G (p.Ser772=)
c.1919C>G
c.1498C>G
c.635C>G (p.Pro212Arg)
c.2013C>G (p.Ser671=)
Xg.53985149G>TCA413252993PHF8c.1905C>A (p.Ser635=)
c.2208C>A (p.Ser736=)
c.*663C>A (n.*663C>A)
c.*1650C>A (n.*1650C>A)
n.1572C>A
c.2157C>A (p.Ser719=)
c.2316C>A (p.Ser772=)
c.1919C>A
c.1498C>A
c.635C>A (p.Pro212His)
c.2013C>A (p.Ser671=)
Xg.53985150G>ACA413252996PHF8c.1904C>T (p.Ser635Phe)
c.2207C>T (p.Ser736Phe)
c.*662C>T (n.*662C>T)
c.*1649C>T (n.*1649C>T)
n.1571C>T
c.2156C>T (p.Ser719Phe)
c.2315C>T (p.Ser772Phe)
c.1918C>T
c.1497C>T
c.634C>T (p.Pro212Ser)
c.2012C>T (p.Ser671Phe)
Xg.53985150G>CCA413252998PHF8c.1904C>G (p.Ser635Cys)
c.2207C>G (p.Ser736Cys)
c.*662C>G (n.*662C>G)
c.*1649C>G (n.*1649C>G)
n.1571C>G
c.2156C>G (p.Ser719Cys)
c.2315C>G (p.Ser772Cys)
c.1918C>G
c.1497C>G
c.634C>G (p.Pro212Ala)
c.2012C>G (p.Ser671Cys)
Xg.53985150G>TCA413253000PHF8c.1904C>A (p.Ser635Tyr)
c.2207C>A (p.Ser736Tyr)
c.*662C>A (n.*662C>A)
c.*1649C>A (n.*1649C>A)
n.1571C>A
c.2156C>A (p.Ser719Tyr)
c.2315C>A (p.Ser772Tyr)
c.1918C>A
c.1497C>A
c.634C>A (p.Pro212Thr)
c.2012C>A (p.Ser671Tyr)
Xg.53985151A>CCA413253003PHF8c.1903T>G (p.Ser635Ala)
c.2206T>G (p.Ser736Ala)
c.*661T>G (n.*661T>G)
c.*1648T>G (n.*1648T>G)
n.1570T>G
c.2155T>G (p.Ser719Ala)
c.2314T>G (p.Ser772Ala)
c.1917T>G
c.1496T>G
c.633T>G (p.Arg211=)
c.2011T>G (p.Ser671Ala)
Xg.53985151A>GCA413253010PHF8c.1903T>C (p.Ser635Pro)
c.2206T>C (p.Ser736Pro)
c.*661T>C (n.*661T>C)
c.*1648T>C (n.*1648T>C)
n.1570T>C
c.2155T>C (p.Ser719Pro)
c.2314T>C (p.Ser772Pro)
c.1917T>C
c.1496T>C
c.633T>C (p.Arg211=)
c.2011T>C (p.Ser671Pro)
Xg.53985151A>TCA413253007PHF8c.1903T>A (p.Ser635Thr)
c.2206T>A (p.Ser736Thr)
c.*661T>A (n.*661T>A)
c.*1648T>A (n.*1648T>A)
n.1570T>A
c.2155T>A (p.Ser719Thr)
c.2314T>A (p.Ser772Thr)
c.1917T>A
c.1496T>A
c.633T>A (p.Arg211=)
c.2011T>A (p.Ser671Thr)
Xg.53985152C>ACA413253013PHF8c.1902G>T (p.Ser634=)
c.2205G>T (p.Ser735=)
c.*660G>T (n.*660G>T)
c.*1647G>T (n.*1647G>T)
n.1569G>T
c.2154G>T (p.Ser718=)
c.2313G>T (p.Ser771=)
c.1916G>T
c.1495G>T
c.632G>T (p.Arg211Leu)
c.2010G>T (p.Ser670=)
Xg.53985152C=CA2430030708PHF8c.1902G= (p.Ser634=)
c.2205G= (p.Ser735=)
c.*660G= (n.*660G=)
c.*1647G= (n.*1647G=)
n.1569G=
c.2154G= (p.Ser718=)
c.2313G= (p.Ser771=)
c.1916G=
c.1495G=
c.632G= (p.Arg211=)
c.2010G= (p.Ser670=)
Xg.53985152C>GCA413253018PHF8c.1902G>C (p.Ser634=)
c.2205G>C (p.Ser735=)
c.*660G>C (n.*660G>C)
c.*1647G>C (n.*1647G>C)
n.1569G>C
c.2154G>C (p.Ser718=)
c.2313G>C (p.Ser771=)
c.1916G>C
c.1495G>C
c.632G>C (p.Arg211Pro)
c.2010G>C (p.Ser670=)
Xg.53985152C>TCA10423324PHF8c.1902G>A (p.Ser634=)
c.2205G>A (p.Ser735=)
c.*660G>A (n.*660G>A)
c.*1647G>A (n.*1647G>A)
n.1569G>A
c.2154G>A (p.Ser718=)
c.2313G>A (p.Ser771=)
c.1916G>A
c.1495G>A
c.632G>A (p.Arg211His)
c.2010G>A (p.Ser670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985153G>ACA329924353PHF8c.1901C>T (p.Ser634Leu)
c.2204C>T (p.Ser735Leu)
c.*659C>T (n.*659C>T)
c.*1646C>T (n.*1646C>T)
n.1568C>T
c.2153C>T (p.Ser718Leu)
c.2312C>T (p.Ser771Leu)
c.1915C>T
c.1494C>T
c.631C>T (p.Arg211Cys)
c.2009C>T (p.Ser670Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985153G>CCA413253024PHF8c.1901C>G (p.Ser634Trp)
c.2204C>G (p.Ser735Trp)
c.*659C>G (n.*659C>G)
c.*1646C>G (n.*1646C>G)
n.1568C>G
c.2153C>G (p.Ser718Trp)
c.2312C>G (p.Ser771Trp)
c.1915C>G
c.1494C>G
c.631C>G (p.Arg211Gly)
c.2009C>G (p.Ser670Trp)
Xg.53985153G=CA2430030709PHF8c.1901C= (p.Ser634=)
c.2204C= (p.Ser735=)
c.*659C= (n.*659C=)
c.*1646C= (n.*1646C=)
n.1568C=
c.2153C= (p.Ser718=)
c.2312C= (p.Ser771=)
c.1915C=
c.1494C=
c.631C= (p.Arg211=)
c.2009C= (p.Ser670=)
Xg.53985153G>TCA413253022PHF8c.1901C>A (p.Ser634Ter)
c.2204C>A (p.Ser735Ter)
c.*659C>A (n.*659C>A)
c.*1646C>A (n.*1646C>A)
n.1568C>A
c.2153C>A (p.Ser718Ter)
c.2312C>A (p.Ser771Ter)
c.1915C>A
c.1494C>A
c.631C>A (p.Arg211Ser)
c.2009C>A (p.Ser670Ter)
Xg.53985154A>CCA413253028PHF8c.1900T>G (p.Ser634Ala)
c.2203T>G (p.Ser735Ala)
c.*658T>G (n.*658T>G)
c.*1645T>G (n.*1645T>G)
n.1567T>G
c.2152T>G (p.Ser718Ala)
c.2311T>G (p.Ser771Ala)
c.1914T>G
c.1493T>G
c.630T>G (p.His210Gln)
c.2008T>G (p.Ser670Ala)
Xg.53985154A>GCA413253030PHF8c.1900T>C (p.Ser634Pro)
c.2203T>C (p.Ser735Pro)
c.*658T>C (n.*658T>C)
c.*1645T>C (n.*1645T>C)
n.1567T>C
c.2152T>C (p.Ser718Pro)
c.2311T>C (p.Ser771Pro)
c.1914T>C
c.1493T>C
c.630T>C (p.His210=)
c.2008T>C (p.Ser670Pro)
Xg.53985154A>TCA413253032PHF8c.1900T>A (p.Ser634Thr)
c.2203T>A (p.Ser735Thr)
c.*658T>A (n.*658T>A)
c.*1645T>A (n.*1645T>A)
n.1567T>A
c.2152T>A (p.Ser718Thr)
c.2311T>A (p.Ser771Thr)
c.1914T>A
c.1493T>A
c.630T>A (p.His210Gln)
c.2008T>A (p.Ser670Thr)
Xg.53985155T>ACA413253035PHF8c.1899A>T (p.Ser633=)
c.2202A>T (p.Ser734=)
c.*657A>T (n.*657A>T)
c.*1644A>T (n.*1644A>T)
n.1566A>T
c.2151A>T (p.Ser717=)
c.2310A>T (p.Ser770=)
c.1913A>T
c.1492A>T
c.629A>T (p.His210Leu)
c.2007A>T (p.Ser669=)
Xg.53985155T>CCA413253037PHF8c.1899A>G (p.Ser633=)
c.2202A>G (p.Ser734=)
c.*657A>G (n.*657A>G)
c.*1644A>G (n.*1644A>G)
n.1566A>G
c.2151A>G (p.Ser717=)
c.2310A>G (p.Ser770=)
c.1913A>G
c.1492A>G
c.629A>G (p.His210Arg)
c.2007A>G (p.Ser669=)
 gnomAD v4
Xg.53985155T>GCA413253039PHF8c.1899A>C (p.Ser633=)
c.2202A>C (p.Ser734=)
c.*657A>C (n.*657A>C)
c.*1644A>C (n.*1644A>C)
n.1566A>C
c.2151A>C (p.Ser717=)
c.2310A>C (p.Ser770=)
c.1913A>C
c.1492A>C
c.629A>C (p.His210Pro)
c.2007A>C (p.Ser669=)
Xg.53985156G>ACA413253044PHF8c.1898C>T (p.Ser633Leu)
c.2201C>T (p.Ser734Leu)
c.*656C>T (n.*656C>T)
c.*1643C>T (n.*1643C>T)
n.1565C>T
c.2150C>T (p.Ser717Leu)
c.2309C>T (p.Ser770Leu)
c.1912C>T
c.1491C>T
c.628C>T (p.His210Tyr)
c.2006C>T (p.Ser669Leu)
 gnomAD v4
Xg.53985156G>CCA413253046PHF8c.1898C>G (p.Ser633Ter)
c.2201C>G (p.Ser734Ter)
c.*656C>G (n.*656C>G)
c.*1643C>G (n.*1643C>G)
n.1565C>G
c.2150C>G (p.Ser717Ter)
c.2309C>G (p.Ser770Ter)
c.1912C>G
c.1491C>G
c.628C>G (p.His210Asp)
c.2006C>G (p.Ser669Ter)
Xg.53985156G>TCA413253048PHF8c.1898C>A (p.Ser633Ter)
c.2201C>A (p.Ser734Ter)
c.*656C>A (n.*656C>A)
c.*1643C>A (n.*1643C>A)
n.1565C>A
c.2150C>A (p.Ser717Ter)
c.2309C>A (p.Ser770Ter)
c.1912C>A
c.1491C>A
c.628C>A (p.His210Asn)
c.2006C>A (p.Ser669Ter)
Xg.53985157A>CCA413253050PHF8c.1897T>G (p.Ser633Ala)
c.2200T>G (p.Ser734Ala)
c.*655T>G (n.*655T>G)
c.*1642T>G (n.*1642T>G)
n.1564T>G
c.2149T>G (p.Ser717Ala)
c.2308T>G (p.Ser770Ala)
c.1911T>G
c.1490T>G
c.627T>G (p.Pro209=)
c.2005T>G (p.Ser669Ala)
Xg.53985157A>GCA413253052PHF8c.1897T>C (p.Ser633Pro)
c.2200T>C (p.Ser734Pro)
c.*655T>C (n.*655T>C)
c.*1642T>C (n.*1642T>C)
n.1564T>C
c.2149T>C (p.Ser717Pro)
c.2308T>C (p.Ser770Pro)
c.1911T>C
c.1490T>C
c.627T>C (p.Pro209=)
c.2005T>C (p.Ser669Pro)
 gnomAD v4
Xg.53985157A>TCA413253054PHF8c.1897T>A (p.Ser633Thr)
c.2200T>A (p.Ser734Thr)
c.*655T>A (n.*655T>A)
c.*1642T>A (n.*1642T>A)
n.1564T>A
c.2149T>A (p.Ser717Thr)
c.2308T>A (p.Ser770Thr)
c.1911T>A
c.1490T>A
c.627T>A (p.Pro209=)
c.2005T>A (p.Ser669Thr)
Xg.53985158G>ACA10423325PHF8c.1896C>T (p.Ser632=)
c.2199C>T (p.Ser733=)
c.*654C>T (n.*654C>T)
c.*1641C>T (n.*1641C>T)
n.1563C>T
c.2148C>T (p.Ser716=)
c.2307C>T (p.Ser769=)
c.1910C>T
c.1489C>T
c.626C>T (p.Pro209Leu)
c.2004C>T (p.Ser668=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985158G>CCA413253060PHF8c.1896C>G (p.Ser632=)
c.2199C>G (p.Ser733=)
c.*654C>G (n.*654C>G)
c.*1641C>G (n.*1641C>G)
n.1563C>G
c.2148C>G (p.Ser716=)
c.2307C>G (p.Ser769=)
c.1910C>G
c.1489C>G
c.626C>G (p.Pro209Arg)
c.2004C>G (p.Ser668=)
 gnomAD v4
Xg.53985158G=CA2430030710PHF8c.1896C= (p.Ser632=)
c.2199C= (p.Ser733=)
c.*654C= (n.*654C=)
c.*1641C= (n.*1641C=)
n.1563C=
c.2148C= (p.Ser716=)
c.2307C= (p.Ser769=)
c.1910C=
c.1489C=
c.626C= (p.Pro209=)
c.2004C= (p.Ser668=)
Xg.53985158G>TCA413253057PHF8c.1896C>A (p.Ser632=)
c.2199C>A (p.Ser733=)
c.*654C>A (n.*654C>A)
c.*1641C>A (n.*1641C>A)
n.1563C>A
c.2148C>A (p.Ser716=)
c.2307C>A (p.Ser769=)
c.1910C>A
c.1489C>A
c.626C>A (p.Pro209His)
c.2004C>A (p.Ser668=)
Xg.53985159G>ACA413253063PHF8c.1895C>T (p.Ser632Phe)
c.2198C>T (p.Ser733Phe)
c.*653C>T (n.*653C>T)
c.*1640C>T (n.*1640C>T)
n.1562C>T
c.2147C>T (p.Ser716Phe)
c.2306C>T (p.Ser769Phe)
c.1909C>T
c.1488C>T
c.625C>T (p.Pro209Ser)
c.2003C>T (p.Ser668Phe)
Xg.53985159G>CCA413253066PHF8c.1895C>G (p.Ser632Cys)
c.2198C>G (p.Ser733Cys)
c.*653C>G (n.*653C>G)
c.*1640C>G (n.*1640C>G)
n.1562C>G
c.2147C>G (p.Ser716Cys)
c.2306C>G (p.Ser769Cys)
c.1909C>G
c.1488C>G
c.625C>G (p.Pro209Ala)
c.2003C>G (p.Ser668Cys)
Xg.53985159G>TCA413253068PHF8c.1895C>A (p.Ser632Tyr)
c.2198C>A (p.Ser733Tyr)
c.*653C>A (n.*653C>A)
c.*1640C>A (n.*1640C>A)
n.1562C>A
c.2147C>A (p.Ser716Tyr)
c.2306C>A (p.Ser769Tyr)
c.1909C>A
c.1488C>A
c.625C>A (p.Pro209Thr)
c.2003C>A (p.Ser668Tyr)
Xg.53985160A=CA2430030711PHF8c.1894T= (p.Ser632=)
c.2197T= (p.Ser733=)
c.*652T= (n.*652T=)
c.*1639T= (n.*1639T=)
n.1561T=
c.2146T= (p.Ser716=)
c.2305T= (p.Ser769=)
c.1908T=
c.1487T=
c.624T= (p.Ser208=)
c.2002T= (p.Ser668=)
Xg.53985160A>CCA413253073PHF8c.1894T>G (p.Ser632Ala)
c.2197T>G (p.Ser733Ala)
c.*652T>G (n.*652T>G)
c.*1639T>G (n.*1639T>G)
n.1561T>G
c.2146T>G (p.Ser716Ala)
c.2305T>G (p.Ser769Ala)
c.1908T>G
c.1487T>G
c.624T>G (p.Ser208Arg)
c.2002T>G (p.Ser668Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985160A>GCA413253075PHF8c.1894T>C (p.Ser632Pro)
c.2197T>C (p.Ser733Pro)
c.*652T>C (n.*652T>C)
c.*1639T>C (n.*1639T>C)
n.1561T>C
c.2146T>C (p.Ser716Pro)
c.2305T>C (p.Ser769Pro)
c.1908T>C
c.1487T>C
c.624T>C (p.Ser208=)
c.2002T>C (p.Ser668Pro)
Xg.53985160A>TCA413253077PHF8c.1894T>A (p.Ser632Thr)
c.2197T>A (p.Ser733Thr)
c.*652T>A (n.*652T>A)
c.*1639T>A (n.*1639T>A)
n.1561T>A
c.2146T>A (p.Ser716Thr)
c.2305T>A (p.Ser769Thr)
c.1908T>A
c.1487T>A
c.624T>A (p.Ser208Arg)
c.2002T>A (p.Ser668Thr)
Xg.53985161C>ACA413253079PHF8c.1893G>T (p.Gln631His)
c.2196G>T (p.Gln732His)
c.*651G>T (n.*651G>T)
c.*1638G>T (n.*1638G>T)
n.1560G>T
c.2145G>T (p.Gln715His)
c.2304G>T (p.Gln768His)
c.1907G>T
c.1486G>T
c.623G>T (p.Ser208Ile)
c.2001G>T (p.Gln667His)
Xg.53985161C>GCA413253081PHF8c.1893G>C (p.Gln631His)
c.2196G>C (p.Gln732His)
c.*651G>C (n.*651G>C)
c.*1638G>C (n.*1638G>C)
n.1560G>C
c.2145G>C (p.Gln715His)
c.2304G>C (p.Gln768His)
c.1907G>C
c.1486G>C
c.623G>C (p.Ser208Thr)
c.2001G>C (p.Gln667His)
Xg.53985161C>TCA413253082PHF8c.1893G>A (p.Gln631=)
c.2196G>A (p.Gln732=)
c.*651G>A (n.*651G>A)
c.*1638G>A (n.*1638G>A)
n.1560G>A
c.2145G>A (p.Gln715=)
c.2304G>A (p.Gln768=)
c.1907G>A
c.1486G>A
c.623G>A (p.Ser208Asn)
c.2001G>A (p.Gln667=)
Xg.53985162T>ACA329924354PHF8c.1892A>T (p.Gln631Leu)
c.2195A>T (p.Gln732Leu)
c.*650A>T (n.*650A>T)
c.*1637A>T (n.*1637A>T)
n.1559A>T
c.2144A>T (p.Gln715Leu)
c.2303A>T (p.Gln768Leu)
c.1906A>T
c.1485A>T
c.622A>T (p.Ser208Cys)
c.2000A>T (p.Gln667Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985162T>CCA413253085PHF8c.1892A>G (p.Gln631Arg)
c.2195A>G (p.Gln732Arg)
c.*650A>G (n.*650A>G)
c.*1637A>G (n.*1637A>G)
n.1559A>G
c.2144A>G (p.Gln715Arg)
c.2303A>G (p.Gln768Arg)
c.1906A>G
c.1485A>G
c.622A>G (p.Ser208Gly)
c.2000A>G (p.Gln667Arg)
Xg.53985162T>GCA413253083PHF8c.1892A>C (p.Gln631Pro)
c.2195A>C (p.Gln732Pro)
c.*650A>C (n.*650A>C)
c.*1637A>C (n.*1637A>C)
n.1559A>C
c.2144A>C (p.Gln715Pro)
c.2303A>C (p.Gln768Pro)
c.1906A>C
c.1485A>C
c.622A>C (p.Ser208Arg)
c.2000A>C (p.Gln667Pro)
Xg.53985162T=CA2430030712PHF8c.1892A= (p.Gln631=)
c.2195A= (p.Gln732=)
c.*650A= (n.*650A=)
c.*1637A= (n.*1637A=)
n.1559A=
c.2144A= (p.Gln715=)
c.2303A= (p.Gln768=)
c.1906A=
c.1485A=
c.622A= (p.Ser208=)
c.2000A= (p.Gln667=)
Xg.53985163G>ACA413253088PHF8c.1891C>T (p.Gln631Ter)
c.2194C>T (p.Gln732Ter)
c.*649C>T (n.*649C>T)
c.*1636C>T (n.*1636C>T)
n.1558C>T
c.2143C>T (p.Gln715Ter)
c.2302C>T (p.Gln768Ter)
c.1905C>T
c.1484C>T
c.621C>T (p.Cys207=)
c.1999C>T (p.Gln667Ter)
Xg.53985163G>CCA413253090PHF8c.1891C>G (p.Gln631Glu)
c.2194C>G (p.Gln732Glu)
c.*649C>G (n.*649C>G)
c.*1636C>G (n.*1636C>G)
n.1558C>G
c.2143C>G (p.Gln715Glu)
c.2302C>G (p.Gln768Glu)
c.1905C>G
c.1484C>G
c.621C>G (p.Cys207Trp)
c.1999C>G (p.Gln667Glu)
Xg.53985163G>TCA413253091PHF8c.1891C>A (p.Gln631Lys)
c.2194C>A (p.Gln732Lys)
c.*649C>A (n.*649C>A)
c.*1636C>A (n.*1636C>A)
n.1558C>A
c.2143C>A (p.Gln715Lys)
c.2302C>A (p.Gln768Lys)
c.1905C>A
c.1484C>A
c.621C>A (p.Cys207Ter)
c.1999C>A (p.Gln667Lys)
 gnomAD v4
Xg.53985164C>ACA413253094PHF8c.1890G>T (p.Leu630=)
c.2193G>T (p.Leu731=)
c.*648G>T (n.*648G>T)
c.*1635G>T (n.*1635G>T)
n.1557G>T
c.2142G>T (p.Leu714=)
c.2301G>T (p.Leu767=)
c.1904G>T
c.1483G>T
c.620G>T (p.Cys207Phe)
c.1998G>T (p.Leu666=)
Xg.53985164C>GCA413253096PHF8c.1890G>C (p.Leu630=)
c.2193G>C (p.Leu731=)
c.*648G>C (n.*648G>C)
c.*1635G>C (n.*1635G>C)
n.1557G>C
c.2142G>C (p.Leu714=)
c.2301G>C (p.Leu767=)
c.1904G>C
c.1483G>C
c.620G>C (p.Cys207Ser)
c.1998G>C (p.Leu666=)
Xg.53985164C>TCA413253098PHF8c.1890G>A (p.Leu630=)
c.2193G>A (p.Leu731=)
c.*648G>A (n.*648G>A)
c.*1635G>A (n.*1635G>A)
n.1557G>A
c.2142G>A (p.Leu714=)
c.2301G>A (p.Leu767=)
c.1904G>A
c.1483G>A
c.620G>A (p.Cys207Tyr)
c.1998G>A (p.Leu666=)
Xg.53985165A=CA2430030713PHF8c.1889T= (p.Leu630=)
c.2192T= (p.Leu731=)
c.*647T= (n.*647T=)
c.*1634T= (n.*1634T=)
n.1556T=
c.2141T= (p.Leu714=)
c.2300T= (p.Leu767=)
c.1903T=
c.1482T=
c.619T= (p.Cys207=)
c.1997T= (p.Leu666=)
Xg.53985165A>CCA413253100PHF8c.1889T>G (p.Leu630Arg)
c.2192T>G (p.Leu731Arg)
c.*647T>G (n.*647T>G)
c.*1634T>G (n.*1634T>G)
n.1556T>G
c.2141T>G (p.Leu714Arg)
c.2300T>G (p.Leu767Arg)
c.1903T>G
c.1482T>G
c.619T>G (p.Cys207Gly)
c.1997T>G (p.Leu666Arg)
Xg.53985165A>GCA413253102PHF8c.1889T>C (p.Leu630Pro)
c.2192T>C (p.Leu731Pro)
c.*647T>C (n.*647T>C)
c.*1634T>C (n.*1634T>C)
n.1556T>C
c.2141T>C (p.Leu714Pro)
c.2300T>C (p.Leu767Pro)
c.1903T>C
c.1482T>C
c.619T>C (p.Cys207Arg)
c.1997T>C (p.Leu666Pro)
 dbSNP
Xg.53985165A>TCA413253104PHF8c.1889T>A (p.Leu630Gln)
c.2192T>A (p.Leu731Gln)
c.*647T>A (n.*647T>A)
c.*1634T>A (n.*1634T>A)
n.1556T>A
c.2141T>A (p.Leu714Gln)
c.2300T>A (p.Leu767Gln)
c.1903T>A
c.1482T>A
c.619T>A (p.Cys207Ser)
c.1997T>A (p.Leu666Gln)
Xg.53985166G>ACA516689338PHF8c.1888C>T (p.Leu630=)
c.2191C>T (p.Leu731=)
c.*646C>T (n.*646C>T)
c.*1633C>T (n.*1633C>T)
n.1555C>T
c.2140C>T (p.Leu714=)
c.2299C>T (p.Leu767=)
c.1902C>T
c.1481C>T
c.618C>T (p.Thr206=)
c.1996C>T (p.Leu666=)
Xg.53985166G>CCA413253106PHF8c.1888C>G (p.Leu630Val)
c.2191C>G (p.Leu731Val)
c.*646C>G (n.*646C>G)
c.*1633C>G (n.*1633C>G)
n.1555C>G
c.2140C>G (p.Leu714Val)
c.2299C>G (p.Leu767Val)
c.1902C>G
c.1481C>G
c.618C>G (p.Thr206=)
c.1996C>G (p.Leu666Val)
Xg.53985166G>TCA413253108PHF8c.1888C>A (p.Leu630Met)
c.2191C>A (p.Leu731Met)
c.*646C>A (n.*646C>A)
c.*1633C>A (n.*1633C>A)
n.1555C>A
c.2140C>A (p.Leu714Met)
c.2299C>A (p.Leu767Met)
c.1902C>A
c.1481C>A
c.618C>A (p.Thr206=)
c.1996C>A (p.Leu666Met)
Xg.53985167G>ACA329924355PHF8c.1887C>T (p.Asn629=)
c.2190C>T (p.Asn730=)
c.*645C>T (n.*645C>T)
c.*1632C>T (n.*1632C>T)
n.1554C>T
c.2139C>T (p.Asn713=)
c.2298C>T (p.Asn766=)
c.1901C>T
c.1480C>T
c.617C>T (p.Thr206Ile)
c.1995C>T (p.Asn665=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53985167G>CCA413253112PHF8c.1887C>G (p.Asn629Lys)
c.2190C>G (p.Asn730Lys)
c.*645C>G (n.*645C>G)
c.*1632C>G (n.*1632C>G)
n.1554C>G
c.2139C>G (p.Asn713Lys)
c.2298C>G (p.Asn766Lys)
c.1901C>G
c.1480C>G
c.617C>G (p.Thr206Ser)
c.1995C>G (p.Asn665Lys)
Xg.53985167G=CA2430030714PHF8c.1887C= (p.Asn629=)
c.2190C= (p.Asn730=)
c.*645C= (n.*645C=)
c.*1632C= (n.*1632C=)
n.1554C=
c.2139C= (p.Asn713=)
c.2298C= (p.Asn766=)
c.1901C=
c.1480C=
c.617C= (p.Thr206=)
c.1995C= (p.Asn665=)
Xg.53985167G>TCA413253111PHF8c.1887C>A (p.Asn629Lys)
c.2190C>A (p.Asn730Lys)
c.*645C>A (n.*645C>A)
c.*1632C>A (n.*1632C>A)
n.1554C>A
c.2139C>A (p.Asn713Lys)
c.2298C>A (p.Asn766Lys)
c.1901C>A
c.1480C>A
c.617C>A (p.Thr206Asn)
c.1995C>A (p.Asn665Lys)
Xg.53985168T>ACA413253116PHF8c.1886A>T (p.Asn629Ile)
c.2189A>T (p.Asn730Ile)
c.*644A>T (n.*644A>T)
c.*1631A>T (n.*1631A>T)
n.1553A>T
c.2138A>T (p.Asn713Ile)
c.2297A>T (p.Asn766Ile)
c.1900A>T
c.1479A>T
c.616A>T (p.Thr206Ser)
c.1994A>T (p.Asn665Ile)
Xg.53985168T>CCA413253118PHF8c.1886A>G (p.Asn629Ser)
c.2189A>G (p.Asn730Ser)
c.*644A>G (n.*644A>G)
c.*1631A>G (n.*1631A>G)
n.1553A>G
c.2138A>G (p.Asn713Ser)
c.2297A>G (p.Asn766Ser)
c.1900A>G
c.1479A>G
c.616A>G (p.Thr206Ala)
c.1994A>G (p.Asn665Ser)
 gnomAD v4
Xg.53985168T>GCA413253120PHF8c.1886A>C (p.Asn629Thr)
c.2189A>C (p.Asn730Thr)
c.*644A>C (n.*644A>C)
c.*1631A>C (n.*1631A>C)
n.1553A>C
c.2138A>C (p.Asn713Thr)
c.2297A>C (p.Asn766Thr)
c.1900A>C
c.1479A>C
c.616A>C (p.Thr206Pro)
c.1994A>C (p.Asn665Thr)
Xg.53985169T>ACA413253123PHF8c.1885A>T (p.Asn629Tyr)
c.2188A>T (p.Asn730Tyr)
c.*643A>T (n.*643A>T)
c.*1630A>T (n.*1630A>T)
n.1552A>T
c.2137A>T (p.Asn713Tyr)
c.2296A>T (p.Asn766Tyr)
c.1899A>T
c.1478A>T
c.615A>T (p.Pro205=)
c.1993A>T (p.Asn665Tyr)
Xg.53985169T>CCA413253124PHF8c.1885A>G (p.Asn629Asp)
c.2188A>G (p.Asn730Asp)
c.*643A>G (n.*643A>G)
c.*1630A>G (n.*1630A>G)
n.1552A>G
c.2137A>G (p.Asn713Asp)
c.2296A>G (p.Asn766Asp)
c.1899A>G
c.1478A>G
c.615A>G (p.Pro205=)
c.1993A>G (p.Asn665Asp)
Xg.53985169T>GCA413253126PHF8c.1885A>C (p.Asn629His)
c.2188A>C (p.Asn730His)
c.*643A>C (n.*643A>C)
c.*1630A>C (n.*1630A>C)
n.1552A>C
c.2137A>C (p.Asn713His)
c.2296A>C (p.Asn766His)
c.1899A>C
c.1478A>C
c.615A>C (p.Pro205=)
c.1993A>C (p.Asn665His)
Xg.53985170G>ACA413253129PHF8c.1884C>T (p.Ala628=)
c.2187C>T (p.Ala729=)
c.*642C>T (n.*642C>T)
c.*1629C>T (n.*1629C>T)
n.1551C>T
c.2136C>T (p.Ala712=)
c.2295C>T (p.Ala765=)
c.1898C>T
c.1477C>T
c.614C>T (p.Pro205Leu)
c.1992C>T (p.Ala664=)
Xg.53985170G>CCA413253130PHF8c.1884C>G (p.Ala628=)
c.2187C>G (p.Ala729=)
c.*642C>G (n.*642C>G)
c.*1629C>G (n.*1629C>G)
n.1551C>G
c.2136C>G (p.Ala712=)
c.2295C>G (p.Ala765=)
c.1898C>G
c.1477C>G
c.614C>G (p.Pro205Arg)
c.1992C>G (p.Ala664=)
Xg.53985170G>TCA413253132PHF8c.1884C>A (p.Ala628=)
c.2187C>A (p.Ala729=)
c.*642C>A (n.*642C>A)
c.*1629C>A (n.*1629C>A)
n.1551C>A
c.2136C>A (p.Ala712=)
c.2295C>A (p.Ala765=)
c.1898C>A
c.1477C>A
c.614C>A (p.Pro205Gln)
c.1992C>A (p.Ala664=)
Xg.53985171G>ACA413253135PHF8c.1883C>T (p.Ala628Val)
c.2186C>T (p.Ala729Val)
c.*641C>T (n.*641C>T)
c.*1628C>T (n.*1628C>T)
n.1550C>T
c.2135C>T (p.Ala712Val)
c.2294C>T (p.Ala765Val)
c.1897C>T
c.1476C>T
c.613C>T (p.Pro205Ser)
c.1991C>T (p.Ala664Val)
Xg.53985171G>CCA413253136PHF8c.1883C>G (p.Ala628Gly)
c.2186C>G (p.Ala729Gly)
c.*641C>G (n.*641C>G)
c.*1628C>G (n.*1628C>G)
n.1550C>G
c.2135C>G (p.Ala712Gly)
c.2294C>G (p.Ala765Gly)
c.1897C>G
c.1476C>G
c.613C>G (p.Pro205Ala)
c.1991C>G (p.Ala664Gly)
Xg.53985171G>TCA413253139PHF8c.1883C>A (p.Ala628Asp)
c.2186C>A (p.Ala729Asp)
c.*641C>A (n.*641C>A)
c.*1628C>A (n.*1628C>A)
n.1550C>A
c.2135C>A (p.Ala712Asp)
c.2294C>A (p.Ala765Asp)
c.1897C>A
c.1476C>A
c.613C>A (p.Pro205Thr)
c.1991C>A (p.Ala664Asp)
Xg.53985172C>ACA413253143PHF8c.1882G>T (p.Ala628Ser)
c.2185G>T (p.Ala729Ser)
c.*640G>T (n.*640G>T)
c.*1627G>T (n.*1627G>T)
n.1549G>T
c.2134G>T (p.Ala712Ser)
c.2293G>T (p.Ala765Ser)
c.1896G>T
c.1475G>T
c.612G>T (p.Trp204Cys)
c.1990G>T (p.Ala664Ser)
Xg.53985172C>GCA413253145PHF8c.1882G>C (p.Ala628Pro)
c.2185G>C (p.Ala729Pro)
c.*640G>C (n.*640G>C)
c.*1627G>C (n.*1627G>C)
n.1549G>C
c.2134G>C (p.Ala712Pro)
c.2293G>C (p.Ala765Pro)
c.1896G>C
c.1475G>C
c.612G>C (p.Trp204Cys)
c.1990G>C (p.Ala664Pro)
Xg.53985172C>TCA413253141PHF8c.1882G>A (p.Ala628Thr)
c.2185G>A (p.Ala729Thr)
c.*640G>A (n.*640G>A)
c.*1627G>A (n.*1627G>A)
n.1549G>A
c.2134G>A (p.Ala712Thr)
c.2293G>A (p.Ala765Thr)
c.1896G>A
c.1475G>A
c.612G>A (p.Trp204Ter)
c.1990G>A (p.Ala664Thr)
 gnomAD v4
Xg.53985173C>ACA413253146PHF8c.1881G>T (p.Met627Ile)
c.2184G>T (p.Met728Ile)
c.*639G>T (n.*639G>T)
c.*1626G>T (n.*1626G>T)
n.1548G>T
c.2133G>T (p.Met711Ile)
c.2292G>T (p.Met764Ile)
c.1895G>T
c.1474G>T
c.611G>T (p.Trp204Leu)
c.1989G>T (p.Met663Ile)
Xg.53985173C>GCA413253147PHF8c.1881G>C (p.Met627Ile)
c.2184G>C (p.Met728Ile)
c.*639G>C (n.*639G>C)
c.*1626G>C (n.*1626G>C)
n.1548G>C
c.2133G>C (p.Met711Ile)
c.2292G>C (p.Met764Ile)
c.1895G>C
c.1474G>C
c.611G>C (p.Trp204Ser)
c.1989G>C (p.Met663Ile)
Xg.53985173C>TCA413253150PHF8c.1881G>A (p.Met627Ile)
c.2184G>A (p.Met728Ile)
c.*639G>A (n.*639G>A)
c.*1626G>A (n.*1626G>A)
n.1548G>A
c.2133G>A (p.Met711Ile)
c.2292G>A (p.Met764Ile)
c.1895G>A
c.1474G>A
c.611G>A (p.Trp204Ter)
c.1989G>A (p.Met663Ile)
Xg.53985174A>CCA413253153PHF8c.1880T>G (p.Met627Arg)
c.2183T>G (p.Met728Arg)
c.*638T>G (n.*638T>G)
c.*1625T>G (n.*1625T>G)
n.1547T>G
c.2132T>G (p.Met711Arg)
c.2291T>G (p.Met764Arg)
c.1894T>G
c.1473T>G
c.610T>G (p.Trp204Gly)
c.1988T>G (p.Met663Arg)
Xg.53985174A>GCA413253155PHF8c.1880T>C (p.Met627Thr)
c.2183T>C (p.Met728Thr)
c.*638T>C (n.*638T>C)
c.*1625T>C (n.*1625T>C)
n.1547T>C
c.2132T>C (p.Met711Thr)
c.2291T>C (p.Met764Thr)
c.1894T>C
c.1473T>C
c.610T>C (p.Trp204Arg)
c.1988T>C (p.Met663Thr)
Xg.53985174A>TCA413253157PHF8c.1880T>A (p.Met627Lys)
c.2183T>A (p.Met728Lys)
c.*638T>A (n.*638T>A)
c.*1625T>A (n.*1625T>A)
n.1547T>A
c.2132T>A (p.Met711Lys)
c.2291T>A (p.Met764Lys)
c.1894T>A
c.1473T>A
c.610T>A (p.Trp204Arg)
c.1988T>A (p.Met663Lys)
Xg.53985175T>ACA413253159PHF8c.1879A>T (p.Met627Leu)
c.2182A>T (p.Met728Leu)
c.*637A>T (n.*637A>T)
c.*1624A>T (n.*1624A>T)
n.1546A>T
c.2131A>T (p.Met711Leu)
c.2290A>T (p.Met764Leu)
c.1893A>T
c.1472A>T
c.609A>T (p.Ala203=)
c.1987A>T (p.Met663Leu)
Xg.53985175T>CCA413253161PHF8c.1879A>G (p.Met627Val)
c.2182A>G (p.Met728Val)
c.*637A>G (n.*637A>G)
c.*1624A>G (n.*1624A>G)
n.1546A>G
c.2131A>G (p.Met711Val)
c.2290A>G (p.Met764Val)
c.1893A>G
c.1472A>G
c.609A>G (p.Ala203=)
c.1987A>G (p.Met663Val)
Xg.53985175T>GCA413253163PHF8c.1879A>C (p.Met627Leu)
c.2182A>C (p.Met728Leu)
c.*637A>C (n.*637A>C)
c.*1624A>C (n.*1624A>C)
n.1546A>C
c.2131A>C (p.Met711Leu)
c.2290A>C (p.Met764Leu)
c.1893A>C
c.1472A>C
c.609A>C (p.Ala203=)
c.1987A>C (p.Met663Leu)
Xg.53985176G>ACA413253165PHF8c.1878C>T (p.Cys626=)
c.2181C>T (p.Cys727=)
c.*636C>T (n.*636C>T)
c.*1623C>T (n.*1623C>T)
n.1545C>T
c.2130C>T (p.Cys710=)
c.2289C>T (p.Cys763=)
c.1892C>T
c.1471C>T
c.608C>T (p.Ala203Val)
c.1986C>T (p.Cys662=)
 gnomAD v4
Xg.53985176G>CCA413253167PHF8c.1878C>G (p.Cys626Trp)
c.2181C>G (p.Cys727Trp)
c.*636C>G (n.*636C>G)
c.*1623C>G (n.*1623C>G)
n.1545C>G
c.2130C>G (p.Cys710Trp)
c.2289C>G (p.Cys763Trp)
c.1892C>G
c.1471C>G
c.608C>G (p.Ala203Gly)
c.1986C>G (p.Cys662Trp)
Xg.53985176G>TCA413253169PHF8c.1878C>A (p.Cys626Ter)
c.2181C>A (p.Cys727Ter)
c.*636C>A (n.*636C>A)
c.*1623C>A (n.*1623C>A)
n.1545C>A
c.2130C>A (p.Cys710Ter)
c.2289C>A (p.Cys763Ter)
c.1892C>A
c.1471C>A
c.608C>A (p.Ala203Glu)
c.1986C>A (p.Cys662Ter)
Xg.53985177C>ACA413253175PHF8c.1877G>T (p.Cys626Phe)
c.2180G>T (p.Cys727Phe)
c.*635G>T (n.*635G>T)
c.*1622G>T (n.*1622G>T)
n.1544G>T
c.2129G>T (p.Cys710Phe)
c.2288G>T (p.Cys763Phe)
c.1891G>T
c.1470G>T
c.607G>T (p.Ala203Ser)
c.1985G>T (p.Cys662Phe)
Xg.53985177C>GCA413253173PHF8c.1877G>C (p.Cys626Ser)
c.2180G>C (p.Cys727Ser)
c.*635G>C (n.*635G>C)
c.*1622G>C (n.*1622G>C)
n.1544G>C
c.2129G>C (p.Cys710Ser)
c.2288G>C (p.Cys763Ser)
c.1891G>C
c.1470G>C
c.607G>C (p.Ala203Pro)
c.1985G>C (p.Cys662Ser)
Xg.53985177C>TCA413253171PHF8c.1877G>A (p.Cys626Tyr)
c.2180G>A (p.Cys727Tyr)
c.*635G>A (n.*635G>A)
c.*1622G>A (n.*1622G>A)
n.1544G>A
c.2129G>A (p.Cys710Tyr)
c.2288G>A (p.Cys763Tyr)
c.1891G>A
c.1470G>A
c.607G>A (p.Ala203Thr)
c.1985G>A (p.Cys662Tyr)
Xg.53985178A>CCA413253177PHF8c.1876T>G (p.Cys626Gly)
c.2179T>G (p.Cys727Gly)
c.*634T>G (n.*634T>G)
c.*1621T>G (n.*1621T>G)
n.1543T>G
c.2128T>G (p.Cys710Gly)
c.2287T>G (p.Cys763Gly)
c.1890T>G
c.1469T>G
c.606T>G (p.Cys202Trp)
c.1984T>G (p.Cys662Gly)
Xg.53985178A>GCA413253179PHF8c.1876T>C (p.Cys626Arg)
c.2179T>C (p.Cys727Arg)
c.*634T>C (n.*634T>C)
c.*1621T>C (n.*1621T>C)
n.1543T>C
c.2128T>C (p.Cys710Arg)
c.2287T>C (p.Cys763Arg)
c.1890T>C
c.1469T>C
c.606T>C (p.Cys202=)
c.1984T>C (p.Cys662Arg)
Xg.53985178A>TCA413253181PHF8c.1876T>A (p.Cys626Ser)
c.2179T>A (p.Cys727Ser)
c.*634T>A (n.*634T>A)
c.*1621T>A (n.*1621T>A)
n.1543T>A
c.2128T>A (p.Cys710Ser)
c.2287T>A (p.Cys763Ser)
c.1890T>A
c.1469T>A
c.606T>A (p.Cys202Ter)
c.1984T>A (p.Cys662Ser)
Xg.53985179C>ACA413253183PHF8c.1875G>T (p.Leu625=)
c.2178G>T (p.Leu726=)
c.*633G>T (n.*633G>T)
c.*1620G>T (n.*1620G>T)
n.1542G>T
c.2127G>T (p.Leu709=)
c.2286G>T (p.Leu762=)
c.1889G>T
c.1468G>T
c.605G>T (p.Cys202Phe)
c.1983G>T (p.Leu661=)
Xg.53985179C>GCA413253186PHF8c.1875G>C (p.Leu625=)
c.2178G>C (p.Leu726=)
c.*633G>C (n.*633G>C)
c.*1620G>C (n.*1620G>C)
n.1542G>C
c.2127G>C (p.Leu709=)
c.2286G>C (p.Leu762=)
c.1889G>C
c.1468G>C
c.605G>C (p.Cys202Ser)
c.1983G>C (p.Leu661=)
Xg.53985179C>TCA413253188PHF8c.1875G>A (p.Leu625=)
c.2178G>A (p.Leu726=)
c.*633G>A (n.*633G>A)
c.*1620G>A (n.*1620G>A)
n.1542G>A
c.2127G>A (p.Leu709=)
c.2286G>A (p.Leu762=)
c.1889G>A
c.1468G>A
c.605G>A (p.Cys202Tyr)
c.1983G>A (p.Leu661=)
 gnomAD v4
Xg.53985180A>CCA413253190PHF8c.1874T>G (p.Leu625Arg)
c.2177T>G (p.Leu726Arg)
c.*632T>G (n.*632T>G)
c.*1619T>G (n.*1619T>G)
n.1541T>G
c.2126T>G (p.Leu709Arg)
c.2285T>G (p.Leu762Arg)
c.1888T>G
c.1467T>G
c.604T>G (p.Cys202Gly)
c.1982T>G (p.Leu661Arg)
Xg.53985180A>GCA413253192PHF8c.1874T>C (p.Leu625Pro)
c.2177T>C (p.Leu726Pro)
c.*632T>C (n.*632T>C)
c.*1619T>C (n.*1619T>C)
n.1541T>C
c.2126T>C (p.Leu709Pro)
c.2285T>C (p.Leu762Pro)
c.1888T>C
c.1467T>C
c.604T>C (p.Cys202Arg)
c.1982T>C (p.Leu661Pro)
Xg.53985180A>TCA413253194PHF8c.1874T>A (p.Leu625Gln)
c.2177T>A (p.Leu726Gln)
c.*632T>A (n.*632T>A)
c.*1619T>A (n.*1619T>A)
n.1541T>A
c.2126T>A (p.Leu709Gln)
c.2285T>A (p.Leu762Gln)
c.1888T>A
c.1467T>A
c.604T>A (p.Cys202Ser)
c.1982T>A (p.Leu661Gln)
Xg.53985181G>ACA516689369PHF8c.1873C>T (p.Leu625=)
c.2176C>T (p.Leu726=)
c.*631C>T (n.*631C>T)
c.*1618C>T (n.*1618C>T)
n.1540C>T
c.2125C>T (p.Leu709=)
c.2284C>T (p.Leu762=)
c.1887C>T
c.1466C>T
c.603C>T (p.Cys201=)
c.1981C>T (p.Leu661=)
 gnomAD v4
Xg.53985181G>CCA413253196PHF8c.1873C>G (p.Leu625Val)
c.2176C>G (p.Leu726Val)
c.*631C>G (n.*631C>G)
c.*1618C>G (n.*1618C>G)
n.1540C>G
c.2125C>G (p.Leu709Val)
c.2284C>G (p.Leu762Val)
c.1887C>G
c.1466C>G
c.603C>G (p.Cys201Trp)
c.1981C>G (p.Leu661Val)
Xg.53985181G>TCA413253198PHF8c.1873C>A (p.Leu625Met)
c.2176C>A (p.Leu726Met)
c.*631C>A (n.*631C>A)
c.*1618C>A (n.*1618C>A)
n.1540C>A
c.2125C>A (p.Leu709Met)
c.2284C>A (p.Leu762Met)
c.1887C>A
c.1466C>A
c.603C>A (p.Cys201Ter)
c.1981C>A (p.Leu661Met)
Xg.53985182C>ACA413253201PHF8c.1872G>T (p.Met624Ile)
c.2175G>T (p.Met725Ile)
c.*630G>T (n.*630G>T)
c.*1617G>T (n.*1617G>T)
n.1539G>T
c.2124G>T (p.Met708Ile)
c.2283G>T (p.Met761Ile)
c.1886G>T
c.1465G>T
c.602G>T (p.Cys201Phe)
c.1980G>T (p.Met660Ile)
Xg.53985182C>GCA413253202PHF8c.1872G>C (p.Met624Ile)
c.2175G>C (p.Met725Ile)
c.*630G>C (n.*630G>C)
c.*1617G>C (n.*1617G>C)
n.1539G>C
c.2124G>C (p.Met708Ile)
c.2283G>C (p.Met761Ile)
c.1886G>C
c.1465G>C
c.602G>C (p.Cys201Ser)
c.1980G>C (p.Met660Ile)
Xg.53985182C>TCA413253204PHF8c.1872G>A (p.Met624Ile)
c.2175G>A (p.Met725Ile)
c.*630G>A (n.*630G>A)
c.*1617G>A (n.*1617G>A)
n.1539G>A
c.2124G>A (p.Met708Ile)
c.2283G>A (p.Met761Ile)
c.1886G>A
c.1465G>A
c.602G>A (p.Cys201Tyr)
c.1980G>A (p.Met660Ile)
 gnomAD v4
Xg.53985183A>CCA413253208PHF8c.1871T>G (p.Met624Arg)
c.2174T>G (p.Met725Arg)
c.*629T>G (n.*629T>G)
c.*1616T>G (n.*1616T>G)
n.1538T>G
c.2123T>G (p.Met708Arg)
c.2282T>G (p.Met761Arg)
c.1885T>G
c.1464T>G
c.601T>G (p.Cys201Gly)
c.1979T>G (p.Met660Arg)
Xg.53985183A>GCA413253210PHF8c.1871T>C (p.Met624Thr)
c.2174T>C (p.Met725Thr)
c.*629T>C (n.*629T>C)
c.*1616T>C (n.*1616T>C)
n.1538T>C
c.2123T>C (p.Met708Thr)
c.2282T>C (p.Met761Thr)
c.1885T>C
c.1464T>C
c.601T>C (p.Cys201Arg)
c.1979T>C (p.Met660Thr)
Xg.53985183A>TCA413253207PHF8c.1871T>A (p.Met624Lys)
c.2174T>A (p.Met725Lys)
c.*629T>A (n.*629T>A)
c.*1616T>A (n.*1616T>A)
n.1538T>A
c.2123T>A (p.Met708Lys)
c.2282T>A (p.Met761Lys)
c.1885T>A
c.1464T>A
c.601T>A (p.Cys201Ser)
c.1979T>A (p.Met660Lys)
Xg.53985184T>ACA413253213PHF8c.1870A>T (p.Met624Leu)
c.2173A>T (p.Met725Leu)
c.*628A>T (n.*628A>T)
c.*1615A>T (n.*1615A>T)
n.1537A>T
c.2122A>T (p.Met708Leu)
c.2281A>T (p.Met761Leu)
c.1884A>T
c.1463A>T
c.600A>T (p.Ala200=)
c.1978A>T (p.Met660Leu)
Xg.53985184T>CCA413253214PHF8c.1870A>G (p.Met624Val)
c.2173A>G (p.Met725Val)
c.*628A>G (n.*628A>G)
c.*1615A>G (n.*1615A>G)
n.1537A>G
c.2122A>G (p.Met708Val)
c.2281A>G (p.Met761Val)
c.1884A>G
c.1463A>G
c.600A>G (p.Ala200=)
c.1978A>G (p.Met660Val)
Xg.53985184T>GCA413253215PHF8c.1870A>C (p.Met624Leu)
c.2173A>C (p.Met725Leu)
c.*628A>C (n.*628A>C)
c.*1615A>C (n.*1615A>C)
n.1537A>C
c.2122A>C (p.Met708Leu)
c.2281A>C (p.Met761Leu)
c.1884A>C
c.1463A>C
c.600A>C (p.Ala200=)
c.1978A>C (p.Met660Leu)
Xg.53985185G>ACA413253217PHF8c.1869C>T (p.Gly623=)
c.2172C>T (p.Gly724=)
c.*627C>T (n.*627C>T)
c.*1614C>T (n.*1614C>T)
n.1536C>T
c.2121C>T (p.Gly707=)
c.2280C>T (p.Gly760=)
c.1883C>T
c.1462C>T
c.599C>T (p.Ala200Val)
c.1977C>T (p.Gly659=)
Xg.53985185G>CCA413253218PHF8c.1869C>G (p.Gly623=)
c.2172C>G (p.Gly724=)
c.*627C>G (n.*627C>G)
c.*1614C>G (n.*1614C>G)
n.1536C>G
c.2121C>G (p.Gly707=)
c.2280C>G (p.Gly760=)
c.1883C>G
c.1462C>G
c.599C>G (p.Ala200Gly)
c.1977C>G (p.Gly659=)
Xg.53985185G>TCA413253220PHF8c.1869C>A (p.Gly623=)
c.2172C>A (p.Gly724=)
c.*627C>A (n.*627C>A)
c.*1614C>A (n.*1614C>A)
n.1536C>A
c.2121C>A (p.Gly707=)
c.2280C>A (p.Gly760=)
c.1883C>A
c.1462C>A
c.599C>A (p.Ala200Glu)
c.1977C>A (p.Gly659=)
 gnomAD v4

Number of alleles fetched