Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68158136C>ACA381588523KMT5Bc.1997G>T (p.Gly666Val)
n.2562G>T
c.*1834G>T (n.*1834G>T)
c.*1877G>T (n.*1877G>T)
c.1694G>T (p.Gly565Val)
c.*1418G>T (n.*1418G>T)
c.2210G>T (p.Gly737Val)
c.1490G>T (p.Gly497Val)
c.2141G>T (p.Gly714Val)
c.968G>T (p.Gly323Val)
11g.68158136C>GCA381588519KMT5Bc.1997G>C (p.Gly666Ala)
n.2562G>C
c.*1834G>C (n.*1834G>C)
c.*1877G>C (n.*1877G>C)
c.1694G>C (p.Gly565Ala)
c.*1418G>C (n.*1418G>C)
c.2210G>C (p.Gly737Ala)
c.1490G>C (p.Gly497Ala)
c.2141G>C (p.Gly714Ala)
c.968G>C (p.Gly323Ala)
11g.68158136C>TCA381588521KMT5Bc.1997G>A (p.Gly666Glu)
n.2562G>A
c.*1834G>A (n.*1834G>A)
c.*1877G>A (n.*1877G>A)
c.1694G>A (p.Gly565Glu)
c.*1418G>A (n.*1418G>A)
c.2210G>A (p.Gly737Glu)
c.1490G>A (p.Gly497Glu)
c.2141G>A (p.Gly714Glu)
c.968G>A (p.Gly323Glu)
11g.68158137C>ACA381588525KMT5Bc.1996G>T (p.Gly666Ter)
n.2561G>T
c.*1833G>T (n.*1833G>T)
c.*1876G>T (n.*1876G>T)
c.1693G>T (p.Gly565Ter)
c.*1417G>T (n.*1417G>T)
c.2209G>T (p.Gly737Ter)
c.1489G>T (p.Gly497Ter)
c.2140G>T (p.Gly714Ter)
c.967G>T (p.Gly323Ter)
11g.68158137C>GCA381588527KMT5Bc.1996G>C (p.Gly666Arg)
n.2561G>C
c.*1833G>C (n.*1833G>C)
c.*1876G>C (n.*1876G>C)
c.1693G>C (p.Gly565Arg)
c.*1417G>C (n.*1417G>C)
c.2209G>C (p.Gly737Arg)
c.1489G>C (p.Gly497Arg)
c.2140G>C (p.Gly714Arg)
c.967G>C (p.Gly323Arg)
11g.68158137C>TCA381588529KMT5Bc.1996G>A (p.Gly666Arg)
n.2561G>A
c.*1833G>A (n.*1833G>A)
c.*1876G>A (n.*1876G>A)
c.1693G>A (p.Gly565Arg)
c.*1417G>A (n.*1417G>A)
c.2209G>A (p.Gly737Arg)
c.1489G>A (p.Gly497Arg)
c.2140G>A (p.Gly714Arg)
c.967G>A (p.Gly323Arg)
COSMIC COSMIC
11g.68158138A>CCA381588531KMT5Bc.1995T>G (p.Asp665Glu)
n.2560T>G
c.*1832T>G (n.*1832T>G)
c.*1875T>G (n.*1875T>G)
c.1692T>G (p.Asp564Glu)
c.*1416T>G (n.*1416T>G)
c.2208T>G (p.Asp736Glu)
c.1488T>G (p.Asp496Glu)
c.2139T>G (p.Asp713Glu)
c.966T>G (p.Asp322Glu)
11g.68158138A>GCA475514972KMT5Bc.1995T>C (p.Asp665=)
n.2560T>C
c.*1832T>C (n.*1832T>C)
c.*1875T>C (n.*1875T>C)
c.1692T>C (p.Asp564=)
c.*1416T>C (n.*1416T>C)
c.2208T>C (p.Asp736=)
c.1488T>C (p.Asp496=)
c.2139T>C (p.Asp713=)
c.966T>C (p.Asp322=)
11g.68158138A>TCA381588533KMT5Bc.1995T>A (p.Asp665Glu)
n.2560T>A
c.*1832T>A (n.*1832T>A)
c.*1875T>A (n.*1875T>A)
c.1692T>A (p.Asp564Glu)
c.*1416T>A (n.*1416T>A)
c.2208T>A (p.Asp736Glu)
c.1488T>A (p.Asp496Glu)
c.2139T>A (p.Asp713Glu)
c.966T>A (p.Asp322Glu)
11g.68158139T>ACA381588536KMT5Bc.1994A>T (p.Asp665Val)
n.2559A>T
c.*1831A>T (n.*1831A>T)
c.*1874A>T (n.*1874A>T)
c.1691A>T (p.Asp564Val)
c.*1415A>T (n.*1415A>T)
c.2207A>T (p.Asp736Val)
c.1487A>T (p.Asp496Val)
c.2138A>T (p.Asp713Val)
c.965A>T (p.Asp322Val)
11g.68158139T>CCA381588537KMT5Bc.1994A>G (p.Asp665Gly)
n.2559A>G
c.*1831A>G (n.*1831A>G)
c.*1874A>G (n.*1874A>G)
c.1691A>G (p.Asp564Gly)
c.*1415A>G (n.*1415A>G)
c.2207A>G (p.Asp736Gly)
c.1487A>G (p.Asp496Gly)
c.2138A>G (p.Asp713Gly)
c.965A>G (p.Asp322Gly)
gnomAD v4
11g.68158139T>GCA381588539KMT5Bc.1994A>C (p.Asp665Ala)
n.2559A>C
c.*1831A>C (n.*1831A>C)
c.*1874A>C (n.*1874A>C)
c.1691A>C (p.Asp564Ala)
c.*1415A>C (n.*1415A>C)
c.2207A>C (p.Asp736Ala)
c.1487A>C (p.Asp496Ala)
c.2138A>C (p.Asp713Ala)
c.965A>C (p.Asp322Ala)
11g.68158140C>ACA381588542KMT5Bc.1993G>T (p.Asp665Tyr)
n.2558G>T
c.*1830G>T (n.*1830G>T)
c.*1873G>T (n.*1873G>T)
c.1690G>T (p.Asp564Tyr)
c.*1414G>T (n.*1414G>T)
c.2206G>T (p.Asp736Tyr)
c.1486G>T (p.Asp496Tyr)
c.2137G>T (p.Asp713Tyr)
c.964G>T (p.Asp322Tyr)
gnomAD v4
11g.68158140C>GCA381588543KMT5Bc.1993G>C (p.Asp665His)
n.2558G>C
c.*1830G>C (n.*1830G>C)
c.*1873G>C (n.*1873G>C)
c.1690G>C (p.Asp564His)
c.*1414G>C (n.*1414G>C)
c.2206G>C (p.Asp736His)
c.1486G>C (p.Asp496His)
c.2137G>C (p.Asp713His)
c.964G>C (p.Asp322His)
11g.68158140C>TCA381588544KMT5Bc.1993G>A (p.Asp665Asn)
n.2558G>A
c.*1830G>A (n.*1830G>A)
c.*1873G>A (n.*1873G>A)
c.1690G>A (p.Asp564Asn)
c.*1414G>A (n.*1414G>A)
c.2206G>A (p.Asp736Asn)
c.1486G>A (p.Asp496Asn)
c.2137G>A (p.Asp713Asn)
c.964G>A (p.Asp322Asn)
11g.68158141A>CCA381588548KMT5Bc.1992T>G (p.Asn664Lys)
n.2557T>G
c.*1829T>G (n.*1829T>G)
c.*1872T>G (n.*1872T>G)
c.1689T>G (p.Asn563Lys)
c.*1413T>G (n.*1413T>G)
c.2205T>G (p.Asn735Lys)
c.1485T>G (p.Asn495Lys)
c.2136T>G (p.Asn712Lys)
c.963T>G (p.Asn321Lys)
11g.68158141A>GCA475514976KMT5Bc.1992T>C (p.Asn664=)
n.2557T>C
c.*1829T>C (n.*1829T>C)
c.*1872T>C (n.*1872T>C)
c.1689T>C (p.Asn563=)
c.*1413T>C (n.*1413T>C)
c.2205T>C (p.Asn735=)
c.1485T>C (p.Asn495=)
c.2136T>C (p.Asn712=)
c.963T>C (p.Asn321=)
11g.68158141A>TCA381588546KMT5Bc.1992T>A (p.Asn664Lys)
n.2557T>A
c.*1829T>A (n.*1829T>A)
c.*1872T>A (n.*1872T>A)
c.1689T>A (p.Asn563Lys)
c.*1413T>A (n.*1413T>A)
c.2205T>A (p.Asn735Lys)
c.1485T>A (p.Asn495Lys)
c.2136T>A (p.Asn712Lys)
c.963T>A (p.Asn321Lys)
11g.68158142T>ACA381588550KMT5Bc.1991A>T (p.Asn664Ile)
n.2556A>T
c.*1828A>T (n.*1828A>T)
c.*1871A>T (n.*1871A>T)
c.1688A>T (p.Asn563Ile)
c.*1412A>T (n.*1412A>T)
c.2204A>T (p.Asn735Ile)
c.1484A>T (p.Asn495Ile)
c.2135A>T (p.Asn712Ile)
c.962A>T (p.Asn321Ile)
11g.68158142T>CCA381588552KMT5Bc.1991A>G (p.Asn664Ser)
n.2556A>G
c.*1828A>G (n.*1828A>G)
c.*1871A>G (n.*1871A>G)
c.1688A>G (p.Asn563Ser)
c.*1412A>G (n.*1412A>G)
c.2204A>G (p.Asn735Ser)
c.1484A>G (p.Asn495Ser)
c.2135A>G (p.Asn712Ser)
c.962A>G (p.Asn321Ser)
gnomAD v4
11g.68158142T>GCA381588554KMT5Bc.1991A>C (p.Asn664Thr)
n.2556A>C
c.*1828A>C (n.*1828A>C)
c.*1871A>C (n.*1871A>C)
c.1688A>C (p.Asn563Thr)
c.*1412A>C (n.*1412A>C)
c.2204A>C (p.Asn735Thr)
c.1484A>C (p.Asn495Thr)
c.2135A>C (p.Asn712Thr)
c.962A>C (p.Asn321Thr)
gnomAD v4
11g.68158143T>ACA381588555KMT5Bc.1990A>T (p.Asn664Tyr)
n.2555A>T
c.*1827A>T (n.*1827A>T)
c.*1870A>T (n.*1870A>T)
c.1687A>T (p.Asn563Tyr)
c.*1411A>T (n.*1411A>T)
c.2203A>T (p.Asn735Tyr)
c.1483A>T (p.Asn495Tyr)
c.2134A>T (p.Asn712Tyr)
c.961A>T (p.Asn321Tyr)
11g.68158143T>CCA381588556KMT5Bc.1990A>G (p.Asn664Asp)
n.2555A>G
c.*1827A>G (n.*1827A>G)
c.*1870A>G (n.*1870A>G)
c.1687A>G (p.Asn563Asp)
c.*1411A>G (n.*1411A>G)
c.2203A>G (p.Asn735Asp)
c.1483A>G (p.Asn495Asp)
c.2134A>G (p.Asn712Asp)
c.961A>G (p.Asn321Asp)
11g.68158143T>GCA381588557KMT5Bc.1990A>C (p.Asn664His)
n.2555A>C
c.*1827A>C (n.*1827A>C)
c.*1870A>C (n.*1870A>C)
c.1687A>C (p.Asn563His)
c.*1411A>C (n.*1411A>C)
c.2203A>C (p.Asn735His)
c.1483A>C (p.Asn495His)
c.2134A>C (p.Asn712His)
c.961A>C (p.Asn321His)
11g.68158144C>ACA381588558KMT5Bc.1989G>T (p.Glu663Asp)
n.2554G>T
c.*1826G>T (n.*1826G>T)
c.*1869G>T (n.*1869G>T)
c.1686G>T (p.Glu562Asp)
c.*1410G>T (n.*1410G>T)
c.2202G>T (p.Glu734Asp)
c.1482G>T (p.Glu494Asp)
c.2133G>T (p.Glu711Asp)
c.960G>T (p.Glu320Asp)
11g.68158144C>GCA381588559KMT5Bc.1989G>C (p.Glu663Asp)
n.2554G>C
c.*1826G>C (n.*1826G>C)
c.*1869G>C (n.*1869G>C)
c.1686G>C (p.Glu562Asp)
c.*1410G>C (n.*1410G>C)
c.2202G>C (p.Glu734Asp)
c.1482G>C (p.Glu494Asp)
c.2133G>C (p.Glu711Asp)
c.960G>C (p.Glu320Asp)
11g.68158144C>TCA475514981KMT5Bc.1989G>A (p.Glu663=)
n.2554G>A
c.*1826G>A (n.*1826G>A)
c.*1869G>A (n.*1869G>A)
c.1686G>A (p.Glu562=)
c.*1410G>A (n.*1410G>A)
c.2202G>A (p.Glu734=)
c.1482G>A (p.Glu494=)
c.2133G>A (p.Glu711=)
c.960G>A (p.Glu320=)
11g.68158145T>ACA381588560KMT5Bc.1988A>T (p.Glu663Val)
n.2553A>T
c.*1825A>T (n.*1825A>T)
c.*1868A>T (n.*1868A>T)
c.1685A>T (p.Glu562Val)
c.*1409A>T (n.*1409A>T)
c.2201A>T (p.Glu734Val)
c.1481A>T (p.Glu494Val)
c.2132A>T (p.Glu711Val)
c.959A>T (p.Glu320Val)
11g.68158145T>CCA381588561KMT5Bc.1988A>G (p.Glu663Gly)
n.2553A>G
c.*1825A>G (n.*1825A>G)
c.*1868A>G (n.*1868A>G)
c.1685A>G (p.Glu562Gly)
c.*1409A>G (n.*1409A>G)
c.2201A>G (p.Glu734Gly)
c.1481A>G (p.Glu494Gly)
c.2132A>G (p.Glu711Gly)
c.959A>G (p.Glu320Gly)
11g.68158145T>GCA381588562KMT5Bc.1988A>C (p.Glu663Ala)
n.2553A>C
c.*1825A>C (n.*1825A>C)
c.*1868A>C (n.*1868A>C)
c.1685A>C (p.Glu562Ala)
c.*1409A>C (n.*1409A>C)
c.2201A>C (p.Glu734Ala)
c.1481A>C (p.Glu494Ala)
c.2132A>C (p.Glu711Ala)
c.959A>C (p.Glu320Ala)
11g.68158146C>ACA381588563KMT5Bc.1987G>T (p.Glu663Ter)
n.2552G>T
c.*1824G>T (n.*1824G>T)
c.*1867G>T (n.*1867G>T)
c.1684G>T (p.Glu562Ter)
c.*1408G>T (n.*1408G>T)
c.2200G>T (p.Glu734Ter)
c.1480G>T (p.Glu494Ter)
c.2131G>T (p.Glu711Ter)
c.958G>T (p.Glu320Ter)
11g.68158146C=CA1980500596KMT5Bc.1987G= (p.Glu663=)
n.2552G=
c.*1824G= (n.*1824G=)
c.*1867G= (n.*1867G=)
c.1684G= (p.Glu562=)
c.*1408G= (n.*1408G=)
c.2200G= (p.Glu734=)
c.1480G= (p.Glu494=)
c.2131G= (p.Glu711=)
c.958G= (p.Glu320=)
11g.68158146C>GCA6148040KMT5Bc.1987G>C (p.Glu663Gln)
n.2552G>C
c.*1824G>C (n.*1824G>C)
c.*1867G>C (n.*1867G>C)
c.1684G>C (p.Glu562Gln)
c.*1408G>C (n.*1408G>C)
c.2200G>C (p.Glu734Gln)
c.1480G>C (p.Glu494Gln)
c.2131G>C (p.Glu711Gln)
c.958G>C (p.Glu320Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158146C>TCA381588564KMT5Bc.1987G>A (p.Glu663Lys)
n.2552G>A
c.*1824G>A (n.*1824G>A)
c.*1867G>A (n.*1867G>A)
c.1684G>A (p.Glu562Lys)
c.*1408G>A (n.*1408G>A)
c.2200G>A (p.Glu734Lys)
c.1480G>A (p.Glu494Lys)
c.2131G>A (p.Glu711Lys)
c.958G>A (p.Glu320Lys)
11g.68158147T>ACA381588566KMT5Bc.1986A>T (p.Gln662His)
n.2551A>T
c.*1823A>T (n.*1823A>T)
c.*1866A>T (n.*1866A>T)
c.1683A>T (p.Gln561His)
c.*1407A>T (n.*1407A>T)
c.2199A>T (p.Gln733His)
c.1479A>T (p.Gln493His)
c.2130A>T (p.Gln710His)
c.957A>T (p.Gln319His)
11g.68158147T>CCA224248231KMT5Bc.1986A>G (p.Gln662=)
n.2551A>G
c.*1823A>G (n.*1823A>G)
c.*1866A>G (n.*1866A>G)
c.1683A>G (p.Gln561=)
c.*1407A>G (n.*1407A>G)
c.2199A>G (p.Gln733=)
c.1479A>G (p.Gln493=)
c.2130A>G (p.Gln710=)
c.957A>G (p.Gln319=)
dbSNP
11g.68158147T>GCA381588565KMT5Bc.1986A>C (p.Gln662His)
n.2551A>C
c.*1823A>C (n.*1823A>C)
c.*1866A>C (n.*1866A>C)
c.1683A>C (p.Gln561His)
c.*1407A>C (n.*1407A>C)
c.2199A>C (p.Gln733His)
c.1479A>C (p.Gln493His)
c.2130A>C (p.Gln710His)
c.957A>C (p.Gln319His)
11g.68158147T=CA1980500599KMT5Bc.1986A= (p.Gln662=)
n.2551A=
c.*1823A= (n.*1823A=)
c.*1866A= (n.*1866A=)
c.1683A= (p.Gln561=)
c.*1407A= (n.*1407A=)
c.2199A= (p.Gln733=)
c.1479A= (p.Gln493=)
c.2130A= (p.Gln710=)
c.957A= (p.Gln319=)
11g.68158148T>ACA381588567KMT5Bc.1985A>T (p.Gln662Leu)
n.2550A>T
c.*1822A>T (n.*1822A>T)
c.*1865A>T (n.*1865A>T)
c.1682A>T (p.Gln561Leu)
c.*1406A>T (n.*1406A>T)
c.2198A>T (p.Gln733Leu)
c.1478A>T (p.Gln493Leu)
c.2129A>T (p.Gln710Leu)
c.956A>T (p.Gln319Leu)
11g.68158148T>CCA381588568KMT5Bc.1985A>G (p.Gln662Arg)
n.2550A>G
c.*1822A>G (n.*1822A>G)
c.*1865A>G (n.*1865A>G)
c.1682A>G (p.Gln561Arg)
c.*1406A>G (n.*1406A>G)
c.2198A>G (p.Gln733Arg)
c.1478A>G (p.Gln493Arg)
c.2129A>G (p.Gln710Arg)
c.956A>G (p.Gln319Arg)
11g.68158148T>GCA381588569KMT5Bc.1985A>C (p.Gln662Pro)
n.2550A>C
c.*1822A>C (n.*1822A>C)
c.*1865A>C (n.*1865A>C)
c.1682A>C (p.Gln561Pro)
c.*1406A>C (n.*1406A>C)
c.2198A>C (p.Gln733Pro)
c.1478A>C (p.Gln493Pro)
c.2129A>C (p.Gln710Pro)
c.956A>C (p.Gln319Pro)
11g.68158149G>ACA381588570KMT5Bc.1984C>T (p.Gln662Ter)
n.2549C>T
c.*1821C>T (n.*1821C>T)
c.*1864C>T (n.*1864C>T)
c.1681C>T (p.Gln561Ter)
c.*1405C>T (n.*1405C>T)
c.2197C>T (p.Gln733Ter)
c.1477C>T (p.Gln493Ter)
c.2128C>T (p.Gln710Ter)
c.955C>T (p.Gln319Ter)
11g.68158149G>CCA381588571KMT5Bc.1984C>G (p.Gln662Glu)
n.2549C>G
c.*1821C>G (n.*1821C>G)
c.*1864C>G (n.*1864C>G)
c.1681C>G (p.Gln561Glu)
c.*1405C>G (n.*1405C>G)
c.2197C>G (p.Gln733Glu)
c.1477C>G (p.Gln493Glu)
c.2128C>G (p.Gln710Glu)
c.955C>G (p.Gln319Glu)
11g.68158149G>TCA381588572KMT5Bc.1984C>A (p.Gln662Lys)
n.2549C>A
c.*1821C>A (n.*1821C>A)
c.*1864C>A (n.*1864C>A)
c.1681C>A (p.Gln561Lys)
c.*1405C>A (n.*1405C>A)
c.2197C>A (p.Gln733Lys)
c.1477C>A (p.Gln493Lys)
c.2128C>A (p.Gln710Lys)
c.955C>A (p.Gln319Lys)
11g.68158150G>ACA475514987KMT5Bc.1983C>T (p.Asp661=)
n.2548C>T
c.*1820C>T (n.*1820C>T)
c.*1863C>T (n.*1863C>T)
c.1680C>T (p.Asp560=)
c.*1404C>T (n.*1404C>T)
c.2196C>T (p.Asp732=)
c.1476C>T (p.Asp492=)
c.2127C>T (p.Asp709=)
c.954C>T (p.Asp318=)
11g.68158150G>CCA381588573KMT5Bc.1983C>G (p.Asp661Glu)
n.2548C>G
c.*1820C>G (n.*1820C>G)
c.*1863C>G (n.*1863C>G)
c.1680C>G (p.Asp560Glu)
c.*1404C>G (n.*1404C>G)
c.2196C>G (p.Asp732Glu)
c.1476C>G (p.Asp492Glu)
c.2127C>G (p.Asp709Glu)
c.954C>G (p.Asp318Glu)
11g.68158150G>TCA381588574KMT5Bc.1983C>A (p.Asp661Glu)
n.2548C>A
c.*1820C>A (n.*1820C>A)
c.*1863C>A (n.*1863C>A)
c.1680C>A (p.Asp560Glu)
c.*1404C>A (n.*1404C>A)
c.2196C>A (p.Asp732Glu)
c.1476C>A (p.Asp492Glu)
c.2127C>A (p.Asp709Glu)
c.954C>A (p.Asp318Glu)
11g.68158150_68158151insAGTCTCGAACA2741184562KMT5Bc.1982_1983insTTCGAGACT (p.Asp661_Gln662insSerArgLeu)
n.2547_2548insTTCGAGACT
c.*1819_*1820insTTCGAGACT (n.*1819_*1820insTTCGAGACT)
c.*1862_*1863insTTCGAGACT (n.*1862_*1863insTTCGAGACT)
c.1679_1680insTTCGAGACT (p.Asp560_Gln561insSerArgLeu)
c.*1403_*1404insTTCGAGACT (n.*1403_*1404insTTCGAGACT)
c.2195_2196insTTCGAGACT (p.Asp732_Gln733insSerArgLeu)
c.1475_1476insTTCGAGACT (p.Asp492_Gln493insSerArgLeu)
c.2126_2127insTTCGAGACT (p.Asp709_Gln710insSerArgLeu)
c.953_954insTTCGAGACT (p.Asp318_Gln319insSerArgLeu)
11g.68158151T>ACA381588575KMT5Bc.1982A>T (p.Asp661Val)
n.2547A>T
c.*1819A>T (n.*1819A>T)
c.*1862A>T (n.*1862A>T)
c.1679A>T (p.Asp560Val)
c.*1403A>T (n.*1403A>T)
c.2195A>T (p.Asp732Val)
c.1475A>T (p.Asp492Val)
c.2126A>T (p.Asp709Val)
c.953A>T (p.Asp318Val)
11g.68158151T>CCA381588576KMT5Bc.1982A>G (p.Asp661Gly)
n.2547A>G
c.*1819A>G (n.*1819A>G)
c.*1862A>G (n.*1862A>G)
c.1679A>G (p.Asp560Gly)
c.*1403A>G (n.*1403A>G)
c.2195A>G (p.Asp732Gly)
c.1475A>G (p.Asp492Gly)
c.2126A>G (p.Asp709Gly)
c.953A>G (p.Asp318Gly)
11g.68158151T>GCA381588577KMT5Bc.1982A>C (p.Asp661Ala)
n.2547A>C
c.*1819A>C (n.*1819A>C)
c.*1862A>C (n.*1862A>C)
c.1679A>C (p.Asp560Ala)
c.*1403A>C (n.*1403A>C)
c.2195A>C (p.Asp732Ala)
c.1475A>C (p.Asp492Ala)
c.2126A>C (p.Asp709Ala)
c.953A>C (p.Asp318Ala)
11g.68158152C>ACA381588578KMT5Bc.1981G>T (p.Asp661Tyr)
n.2546G>T
c.*1818G>T (n.*1818G>T)
c.*1861G>T (n.*1861G>T)
c.1678G>T (p.Asp560Tyr)
c.*1402G>T (n.*1402G>T)
c.2194G>T (p.Asp732Tyr)
c.1474G>T (p.Asp492Tyr)
c.2125G>T (p.Asp709Tyr)
c.952G>T (p.Asp318Tyr)
gnomAD v4
11g.68158152C>GCA381588579KMT5Bc.1981G>C (p.Asp661His)
n.2546G>C
c.*1818G>C (n.*1818G>C)
c.*1861G>C (n.*1861G>C)
c.1678G>C (p.Asp560His)
c.*1402G>C (n.*1402G>C)
c.2194G>C (p.Asp732His)
c.1474G>C (p.Asp492His)
c.2125G>C (p.Asp709His)
c.952G>C (p.Asp318His)
11g.68158152C>TCA381588580KMT5Bc.1981G>A (p.Asp661Asn)
n.2546G>A
c.*1818G>A (n.*1818G>A)
c.*1861G>A (n.*1861G>A)
c.1678G>A (p.Asp560Asn)
c.*1402G>A (n.*1402G>A)
c.2194G>A (p.Asp732Asn)
c.1474G>A (p.Asp492Asn)
c.2125G>A (p.Asp709Asn)
c.952G>A (p.Asp318Asn)
11g.68158153A>CCA381588581KMT5Bc.1980T>G (p.Asn660Lys)
n.2545T>G
c.*1817T>G (n.*1817T>G)
c.*1860T>G (n.*1860T>G)
c.1677T>G (p.Asn559Lys)
c.*1401T>G (n.*1401T>G)
c.2193T>G (p.Asn731Lys)
c.1473T>G (p.Asn491Lys)
c.2124T>G (p.Asn708Lys)
c.951T>G (p.Asn317Lys)
11g.68158153A>GCA475514992KMT5Bc.1980T>C (p.Asn660=)
n.2545T>C
c.*1817T>C (n.*1817T>C)
c.*1860T>C (n.*1860T>C)
c.1677T>C (p.Asn559=)
c.*1401T>C (n.*1401T>C)
c.2193T>C (p.Asn731=)
c.1473T>C (p.Asn491=)
c.2124T>C (p.Asn708=)
c.951T>C (p.Asn317=)
COSMIC COSMIC
11g.68158153A>TCA381588582KMT5Bc.1980T>A (p.Asn660Lys)
n.2545T>A
c.*1817T>A (n.*1817T>A)
c.*1860T>A (n.*1860T>A)
c.1677T>A (p.Asn559Lys)
c.*1401T>A (n.*1401T>A)
c.2193T>A (p.Asn731Lys)
c.1473T>A (p.Asn491Lys)
c.2124T>A (p.Asn708Lys)
c.951T>A (p.Asn317Lys)
11g.68158154T>ACA381588583KMT5Bc.1979A>T (p.Asn660Ile)
n.2544A>T
c.*1816A>T (n.*1816A>T)
c.*1859A>T (n.*1859A>T)
c.1676A>T (p.Asn559Ile)
c.*1400A>T (n.*1400A>T)
c.2192A>T (p.Asn731Ile)
c.1472A>T (p.Asn491Ile)
c.2123A>T (p.Asn708Ile)
c.950A>T (p.Asn317Ile)
dbSNP
11g.68158154T>CCA381588585KMT5Bc.1979A>G (p.Asn660Ser)
n.2544A>G
c.*1816A>G (n.*1816A>G)
c.*1859A>G (n.*1859A>G)
c.1676A>G (p.Asn559Ser)
c.*1400A>G (n.*1400A>G)
c.2192A>G (p.Asn731Ser)
c.1472A>G (p.Asn491Ser)
c.2123A>G (p.Asn708Ser)
c.950A>G (p.Asn317Ser)
11g.68158154T>GCA381588584KMT5Bc.1979A>C (p.Asn660Thr)
n.2544A>C
c.*1816A>C (n.*1816A>C)
c.*1859A>C (n.*1859A>C)
c.1676A>C (p.Asn559Thr)
c.*1400A>C (n.*1400A>C)
c.2192A>C (p.Asn731Thr)
c.1472A>C (p.Asn491Thr)
c.2123A>C (p.Asn708Thr)
c.950A>C (p.Asn317Thr)
11g.68158154T=CA1980500600KMT5Bc.1979A= (p.Asn660=)
n.2544A=
c.*1816A= (n.*1816A=)
c.*1859A= (n.*1859A=)
c.1676A= (p.Asn559=)
c.*1400A= (n.*1400A=)
c.2192A= (p.Asn731=)
c.1472A= (p.Asn491=)
c.2123A= (p.Asn708=)
c.950A= (p.Asn317=)
11g.68158156delCA2580615743KMT5Bc.1979del (p.Asn660MetfsTer8)
n.2544del
c.*1816del (n.*1816del)
c.*1859del (n.*1859del)
c.1676del (p.Asn559MetfsTer8)
c.*1400del (n.*1400del)
c.2192del (p.Asn731MetfsTer8)
c.1472del (p.Asn491MetfsTer8)
c.2123del (p.Asn708MetfsTer8)
c.950del (p.Asn317MetfsTer8)
ClinVar
11g.68158155T>ACA381588586KMT5Bc.1978A>T (p.Asn660Tyr)
n.2543A>T
c.*1815A>T (n.*1815A>T)
c.*1858A>T (n.*1858A>T)
c.1675A>T (p.Asn559Tyr)
c.*1399A>T (n.*1399A>T)
c.2191A>T (p.Asn731Tyr)
c.1471A>T (p.Asn491Tyr)
c.2122A>T (p.Asn708Tyr)
c.949A>T (p.Asn317Tyr)
11g.68158155T>CCA381588588KMT5Bc.1978A>G (p.Asn660Asp)
n.2543A>G
c.*1815A>G (n.*1815A>G)
c.*1858A>G (n.*1858A>G)
c.1675A>G (p.Asn559Asp)
c.*1399A>G (n.*1399A>G)
c.2191A>G (p.Asn731Asp)
c.1471A>G (p.Asn491Asp)
c.2122A>G (p.Asn708Asp)
c.949A>G (p.Asn317Asp)
dbSNP gnomAD v4
11g.68158155T>GCA381588587KMT5Bc.1978A>C (p.Asn660His)
n.2543A>C
c.*1815A>C (n.*1815A>C)
c.*1858A>C (n.*1858A>C)
c.1675A>C (p.Asn559His)
c.*1399A>C (n.*1399A>C)
c.2191A>C (p.Asn731His)
c.1471A>C (p.Asn491His)
c.2122A>C (p.Asn708His)
c.949A>C (p.Asn317His)
gnomAD v4
11g.68158156T>ACA475514996KMT5Bc.1977A>T (p.Thr659=)
n.2542A>T
c.*1814A>T (n.*1814A>T)
c.*1857A>T (n.*1857A>T)
c.1674A>T (p.Thr558=)
c.*1398A>T (n.*1398A>T)
c.2190A>T (p.Thr730=)
c.1470A>T (p.Thr490=)
c.2121A>T (p.Thr707=)
c.948A>T (p.Thr316=)
11g.68158156T>CCA475514997KMT5Bc.1977A>G (p.Thr659=)
n.2542A>G
c.*1814A>G (n.*1814A>G)
c.*1857A>G (n.*1857A>G)
c.1674A>G (p.Thr558=)
c.*1398A>G (n.*1398A>G)
c.2190A>G (p.Thr730=)
c.1470A>G (p.Thr490=)
c.2121A>G (p.Thr707=)
c.948A>G (p.Thr316=)
11g.68158156T>GCA475514998KMT5Bc.1977A>C (p.Thr659=)
n.2542A>C
c.*1814A>C (n.*1814A>C)
c.*1857A>C (n.*1857A>C)
c.1674A>C (p.Thr558=)
c.*1398A>C (n.*1398A>C)
c.2190A>C (p.Thr730=)
c.1470A>C (p.Thr490=)
c.2121A>C (p.Thr707=)
c.948A>C (p.Thr316=)
11g.68158157G>ACA6148041KMT5Bc.1976C>T (p.Thr659Ile)
n.2541C>T
c.*1813C>T (n.*1813C>T)
c.*1856C>T (n.*1856C>T)
c.1673C>T (p.Thr558Ile)
c.*1397C>T (n.*1397C>T)
c.2189C>T (p.Thr730Ile)
c.1469C>T (p.Thr490Ile)
c.2120C>T (p.Thr707Ile)
c.947C>T (p.Thr316Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158157G>CCA381588589KMT5Bc.1976C>G (p.Thr659Arg)
n.2541C>G
c.*1813C>G (n.*1813C>G)
c.*1856C>G (n.*1856C>G)
c.1673C>G (p.Thr558Arg)
c.*1397C>G (n.*1397C>G)
c.2189C>G (p.Thr730Arg)
c.1469C>G (p.Thr490Arg)
c.2120C>G (p.Thr707Arg)
c.947C>G (p.Thr316Arg)
11g.68158157G=CA1980500602KMT5Bc.1976C= (p.Thr659=)
n.2541C=
c.*1813C= (n.*1813C=)
c.*1856C= (n.*1856C=)
c.1673C= (p.Thr558=)
c.*1397C= (n.*1397C=)
c.2189C= (p.Thr730=)
c.1469C= (p.Thr490=)
c.2120C= (p.Thr707=)
c.947C= (p.Thr316=)
11g.68158157G>TCA381588590KMT5Bc.1976C>A (p.Thr659Lys)
n.2541C>A
c.*1813C>A (n.*1813C>A)
c.*1856C>A (n.*1856C>A)
c.1673C>A (p.Thr558Lys)
c.*1397C>A (n.*1397C>A)
c.2189C>A (p.Thr730Lys)
c.1469C>A (p.Thr490Lys)
c.2120C>A (p.Thr707Lys)
c.947C>A (p.Thr316Lys)
11g.68158158T>ACA381588591KMT5Bc.1975A>T (p.Thr659Ser)
n.2540A>T
c.*1812A>T (n.*1812A>T)
c.*1855A>T (n.*1855A>T)
c.1672A>T (p.Thr558Ser)
c.*1396A>T (n.*1396A>T)
c.2188A>T (p.Thr730Ser)
c.1468A>T (p.Thr490Ser)
c.2119A>T (p.Thr707Ser)
c.946A>T (p.Thr316Ser)
11g.68158158T>CCA381588592KMT5Bc.1975A>G (p.Thr659Ala)
n.2540A>G
c.*1812A>G (n.*1812A>G)
c.*1855A>G (n.*1855A>G)
c.1672A>G (p.Thr558Ala)
c.*1396A>G (n.*1396A>G)
c.2188A>G (p.Thr730Ala)
c.1468A>G (p.Thr490Ala)
c.2119A>G (p.Thr707Ala)
c.946A>G (p.Thr316Ala)
11g.68158158T>GCA381588593KMT5Bc.1975A>C (p.Thr659Pro)
n.2540A>C
c.*1812A>C (n.*1812A>C)
c.*1855A>C (n.*1855A>C)
c.1672A>C (p.Thr558Pro)
c.*1396A>C (n.*1396A>C)
c.2188A>C (p.Thr730Pro)
c.1468A>C (p.Thr490Pro)
c.2119A>C (p.Thr707Pro)
c.946A>C (p.Thr316Pro)
11g.68158159T>ACA381588594KMT5Bc.1974A>T (p.Lys658Asn)
n.2539A>T
c.*1811A>T (n.*1811A>T)
c.*1854A>T (n.*1854A>T)
c.1671A>T (p.Lys557Asn)
c.*1395A>T (n.*1395A>T)
c.2187A>T (p.Lys729Asn)
c.1467A>T (p.Lys489Asn)
c.2118A>T (p.Lys706Asn)
c.945A>T (p.Lys315Asn)
11g.68158159T>CCA475515002KMT5Bc.1974A>G (p.Lys658=)
n.2539A>G
c.*1811A>G (n.*1811A>G)
c.*1854A>G (n.*1854A>G)
c.1671A>G (p.Lys557=)
c.*1395A>G (n.*1395A>G)
c.2187A>G (p.Lys729=)
c.1467A>G (p.Lys489=)
c.2118A>G (p.Lys706=)
c.945A>G (p.Lys315=)
11g.68158159T>GCA381588595KMT5Bc.1974A>C (p.Lys658Asn)
n.2539A>C
c.*1811A>C (n.*1811A>C)
c.*1854A>C (n.*1854A>C)
c.1671A>C (p.Lys557Asn)
c.*1395A>C (n.*1395A>C)
c.2187A>C (p.Lys729Asn)
c.1467A>C (p.Lys489Asn)
c.2118A>C (p.Lys706Asn)
c.945A>C (p.Lys315Asn)
11g.68158160T>ACA381588596KMT5Bc.1973A>T (p.Lys658Ile)
n.2538A>T
c.*1810A>T (n.*1810A>T)
c.*1853A>T (n.*1853A>T)
c.1670A>T (p.Lys557Ile)
c.*1394A>T (n.*1394A>T)
c.2186A>T (p.Lys729Ile)
c.1466A>T (p.Lys489Ile)
c.2117A>T (p.Lys706Ile)
c.944A>T (p.Lys315Ile)
11g.68158160T>CCA6148043KMT5Bc.1973A>G (p.Lys658Arg)
n.2538A>G
c.*1810A>G (n.*1810A>G)
c.*1853A>G (n.*1853A>G)
c.1670A>G (p.Lys557Arg)
c.*1394A>G (n.*1394A>G)
c.2186A>G (p.Lys729Arg)
c.1466A>G (p.Lys489Arg)
c.2117A>G (p.Lys706Arg)
c.944A>G (p.Lys315Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158160T>GCA381588597KMT5Bc.1973A>C (p.Lys658Thr)
n.2538A>C
c.*1810A>C (n.*1810A>C)
c.*1853A>C (n.*1853A>C)
c.1670A>C (p.Lys557Thr)
c.*1394A>C (n.*1394A>C)
c.2186A>C (p.Lys729Thr)
c.1466A>C (p.Lys489Thr)
c.2117A>C (p.Lys706Thr)
c.944A>C (p.Lys315Thr)
11g.68158160T=CA1980500607KMT5Bc.1973A= (p.Lys658=)
n.2538A=
c.*1810A= (n.*1810A=)
c.*1853A= (n.*1853A=)
c.1670A= (p.Lys557=)
c.*1394A= (n.*1394A=)
c.2186A= (p.Lys729=)
c.1466A= (p.Lys489=)
c.2117A= (p.Lys706=)
c.944A= (p.Lys315=)
11g.68158160_68158163delinsTTGCCA1980500608KMT5Bc.1970_1973delinsGCAA (p.Ser657=)
n.2535_2538delinsGCAA
c.*1807_*1810delinsGCAA (n.*1807_*1810delinsGCAA)
c.*1850_*1853delinsGCAA (n.*1850_*1853delinsGCAA)
c.1667_1670delinsGCAA (p.Ser556=)
c.*1391_*1394delinsGCAA (n.*1391_*1394delinsGCAA)
c.2183_2186delinsGCAA (p.Ser728=)
c.1463_1466delinsGCAA (p.Ser488=)
c.2114_2117delinsGCAA (p.Ser705=)
c.941_944delinsGCAA (p.Ser314=)
11g.68158161T>ACA381588600KMT5Bc.1972A>T (p.Lys658Ter)
n.2537A>T
c.*1809A>T (n.*1809A>T)
c.*1852A>T (n.*1852A>T)
c.1669A>T (p.Lys557Ter)
c.*1393A>T (n.*1393A>T)
c.2185A>T (p.Lys729Ter)
c.1465A>T (p.Lys489Ter)
c.2116A>T (p.Lys706Ter)
c.943A>T (p.Lys315Ter)
11g.68158161T>CCA381588598KMT5Bc.1972A>G (p.Lys658Glu)
n.2537A>G
c.*1809A>G (n.*1809A>G)
c.*1852A>G (n.*1852A>G)
c.1669A>G (p.Lys557Glu)
c.*1393A>G (n.*1393A>G)
c.2185A>G (p.Lys729Glu)
c.1465A>G (p.Lys489Glu)
c.2116A>G (p.Lys706Glu)
c.943A>G (p.Lys315Glu)
11g.68158161T>GCA381588599KMT5Bc.1972A>C (p.Lys658Gln)
n.2537A>C
c.*1809A>C (n.*1809A>C)
c.*1852A>C (n.*1852A>C)
c.1669A>C (p.Lys557Gln)
c.*1393A>C (n.*1393A>C)
c.2185A>C (p.Lys729Gln)
c.1465A>C (p.Lys489Gln)
c.2116A>C (p.Lys706Gln)
c.943A>C (p.Lys315Gln)
11g.68158168_68158170delCA6148042KMT5Bc.1970_1972del (p.Ser657del)
n.2535_2537del
c.*1807_*1809del (n.*1807_*1809del)
c.*1850_*1852del (n.*1850_*1852del)
c.1667_1669del (p.Ser556del)
c.*1391_*1393del (n.*1391_*1393del)
c.2183_2185del (p.Ser728del)
c.1463_1465del (p.Ser488del)
c.2114_2116del (p.Ser705del)
c.941_943del (p.Ser314del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158162G>ACA224248266KMT5Bc.1971C>T (p.Ser657=)
n.2536C>T
c.*1808C>T (n.*1808C>T)
c.*1851C>T (n.*1851C>T)
c.1668C>T (p.Ser556=)
c.*1392C>T (n.*1392C>T)
c.2184C>T (p.Ser728=)
c.1464C>T (p.Ser488=)
c.2115C>T (p.Ser705=)
c.942C>T (p.Ser314=)
dbSNP
11g.68158162G>CCA381588601KMT5Bc.1971C>G (p.Ser657Arg)
n.2536C>G
c.*1808C>G (n.*1808C>G)
c.*1851C>G (n.*1851C>G)
c.1668C>G (p.Ser556Arg)
c.*1392C>G (n.*1392C>G)
c.2184C>G (p.Ser728Arg)
c.1464C>G (p.Ser488Arg)
c.2115C>G (p.Ser705Arg)
c.942C>G (p.Ser314Arg)
11g.68158162G=CA1980500613KMT5Bc.1971C= (p.Ser657=)
n.2536C=
c.*1808C= (n.*1808C=)
c.*1851C= (n.*1851C=)
c.1668C= (p.Ser556=)
c.*1392C= (n.*1392C=)
c.2184C= (p.Ser728=)
c.1464C= (p.Ser488=)
c.2115C= (p.Ser705=)
c.942C= (p.Ser314=)
11g.68158162G>TCA381588602KMT5Bc.1971C>A (p.Ser657Arg)
n.2536C>A
c.*1808C>A (n.*1808C>A)
c.*1851C>A (n.*1851C>A)
c.1668C>A (p.Ser556Arg)
c.*1392C>A (n.*1392C>A)
c.2184C>A (p.Ser728Arg)
c.1464C>A (p.Ser488Arg)
c.2115C>A (p.Ser705Arg)
c.942C>A (p.Ser314Arg)
11g.68158163C>ACA381588603KMT5Bc.1970G>T (p.Ser657Ile)
n.2535G>T
c.*1807G>T (n.*1807G>T)
c.*1850G>T (n.*1850G>T)
c.1667G>T (p.Ser556Ile)
c.*1391G>T (n.*1391G>T)
c.2183G>T (p.Ser728Ile)
c.1463G>T (p.Ser488Ile)
c.2114G>T (p.Ser705Ile)
c.941G>T (p.Ser314Ile)
11g.68158163C>GCA381588604KMT5Bc.1970G>C (p.Ser657Thr)
n.2535G>C
c.*1807G>C (n.*1807G>C)
c.*1850G>C (n.*1850G>C)
c.1667G>C (p.Ser556Thr)
c.*1391G>C (n.*1391G>C)
c.2183G>C (p.Ser728Thr)
c.1463G>C (p.Ser488Thr)
c.2114G>C (p.Ser705Thr)
c.941G>C (p.Ser314Thr)
11g.68158163C>TCA381588605KMT5Bc.1970G>A (p.Ser657Asn)
n.2535G>A
c.*1807G>A (n.*1807G>A)
c.*1850G>A (n.*1850G>A)
c.1667G>A (p.Ser556Asn)
c.*1391G>A (n.*1391G>A)
c.2183G>A (p.Ser728Asn)
c.1463G>A (p.Ser488Asn)
c.2114G>A (p.Ser705Asn)
c.941G>A (p.Ser314Asn)
11g.68158164T>ACA381588606KMT5Bc.1969A>T (p.Ser657Cys)
n.2534A>T
c.*1806A>T (n.*1806A>T)
c.*1849A>T (n.*1849A>T)
c.1666A>T (p.Ser556Cys)
c.*1390A>T (n.*1390A>T)
c.2182A>T (p.Ser728Cys)
c.1462A>T (p.Ser488Cys)
c.2113A>T (p.Ser705Cys)
c.940A>T (p.Ser314Cys)
11g.68158164T>CCA381588607KMT5Bc.1969A>G (p.Ser657Gly)
n.2534A>G
c.*1806A>G (n.*1806A>G)
c.*1849A>G (n.*1849A>G)
c.1666A>G (p.Ser556Gly)
c.*1390A>G (n.*1390A>G)
c.2182A>G (p.Ser728Gly)
c.1462A>G (p.Ser488Gly)
c.2113A>G (p.Ser705Gly)
c.940A>G (p.Ser314Gly)
11g.68158164T>GCA224248276KMT5Bc.1969A>C (p.Ser657Arg)
n.2534A>C
c.*1806A>C (n.*1806A>C)
c.*1849A>C (n.*1849A>C)
c.1666A>C (p.Ser556Arg)
c.*1390A>C (n.*1390A>C)
c.2182A>C (p.Ser728Arg)
c.1462A>C (p.Ser488Arg)
c.2113A>C (p.Ser705Arg)
c.940A>C (p.Ser314Arg)
dbSNP gnomAD v3 gnomAD v4
11g.68158164T=CA1980500616KMT5Bc.1969A= (p.Ser657=)
n.2534A=
c.*1806A= (n.*1806A=)
c.*1849A= (n.*1849A=)
c.1666A= (p.Ser556=)
c.*1390A= (n.*1390A=)
c.2182A= (p.Ser728=)
c.1462A= (p.Ser488=)
c.2113A= (p.Ser705=)
c.940A= (p.Ser314=)
11g.68158165G>ACA475515010KMT5Bc.1968C>T (p.Ser656=)
n.2533C>T
c.*1805C>T (n.*1805C>T)
c.*1848C>T (n.*1848C>T)
c.1665C>T (p.Ser555=)
c.*1389C>T (n.*1389C>T)
c.2181C>T (p.Ser727=)
c.1461C>T (p.Ser487=)
c.2112C>T (p.Ser704=)
c.939C>T (p.Ser313=)
11g.68158165G>CCA381588608KMT5Bc.1968C>G (p.Ser656Arg)
n.2533C>G
c.*1805C>G (n.*1805C>G)
c.*1848C>G (n.*1848C>G)
c.1665C>G (p.Ser555Arg)
c.*1389C>G (n.*1389C>G)
c.2181C>G (p.Ser727Arg)
c.1461C>G (p.Ser487Arg)
c.2112C>G (p.Ser704Arg)
c.939C>G (p.Ser313Arg)
11g.68158165G>TCA381588609KMT5Bc.1968C>A (p.Ser656Arg)
n.2533C>A
c.*1805C>A (n.*1805C>A)
c.*1848C>A (n.*1848C>A)
c.1665C>A (p.Ser555Arg)
c.*1389C>A (n.*1389C>A)
c.2181C>A (p.Ser727Arg)
c.1461C>A (p.Ser487Arg)
c.2112C>A (p.Ser704Arg)
c.939C>A (p.Ser313Arg)
11g.68158166C>ACA381588610KMT5Bc.1967G>T (p.Ser656Ile)
n.2532G>T
c.*1804G>T (n.*1804G>T)
c.*1847G>T (n.*1847G>T)
c.1664G>T (p.Ser555Ile)
c.*1388G>T (n.*1388G>T)
c.2180G>T (p.Ser727Ile)
c.1460G>T (p.Ser487Ile)
c.2111G>T (p.Ser704Ile)
c.938G>T (p.Ser313Ile)
11g.68158166C=CA1980500618KMT5Bc.1967G= (p.Ser656=)
n.2532G=
c.*1804G= (n.*1804G=)
c.*1847G= (n.*1847G=)
c.1664G= (p.Ser555=)
c.*1388G= (n.*1388G=)
c.2180G= (p.Ser727=)
c.1460G= (p.Ser487=)
c.2111G= (p.Ser704=)
c.938G= (p.Ser313=)
11g.68158166C>GCA381588611KMT5Bc.1967G>C (p.Ser656Thr)
n.2532G>C
c.*1804G>C (n.*1804G>C)
c.*1847G>C (n.*1847G>C)
c.1664G>C (p.Ser555Thr)
c.*1388G>C (n.*1388G>C)
c.2180G>C (p.Ser727Thr)
c.1460G>C (p.Ser487Thr)
c.2111G>C (p.Ser704Thr)
c.938G>C (p.Ser313Thr)
11g.68158166C>TCA381588612KMT5Bc.1967G>A (p.Ser656Asn)
n.2532G>A
c.*1804G>A (n.*1804G>A)
c.*1847G>A (n.*1847G>A)
c.1664G>A (p.Ser555Asn)
c.*1388G>A (n.*1388G>A)
c.2180G>A (p.Ser727Asn)
c.1460G>A (p.Ser487Asn)
c.2111G>A (p.Ser704Asn)
c.938G>A (p.Ser313Asn)
dbSNP
11g.68158167T>ACA381588613KMT5Bc.1966A>T (p.Ser656Cys)
n.2531A>T
c.*1803A>T (n.*1803A>T)
c.*1846A>T (n.*1846A>T)
c.1663A>T (p.Ser555Cys)
c.*1387A>T (n.*1387A>T)
c.2179A>T (p.Ser727Cys)
c.1459A>T (p.Ser487Cys)
c.2110A>T (p.Ser704Cys)
c.937A>T (p.Ser313Cys)
gnomAD v4
11g.68158167T>CCA6148044KMT5Bc.1966A>G (p.Ser656Gly)
n.2531A>G
c.*1803A>G (n.*1803A>G)
c.*1846A>G (n.*1846A>G)
c.1663A>G (p.Ser555Gly)
c.*1387A>G (n.*1387A>G)
c.2179A>G (p.Ser727Gly)
c.1459A>G (p.Ser487Gly)
c.2110A>G (p.Ser704Gly)
c.937A>G (p.Ser313Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158167T>GCA381588614KMT5Bc.1966A>C (p.Ser656Arg)
n.2531A>C
c.*1803A>C (n.*1803A>C)
c.*1846A>C (n.*1846A>C)
c.1663A>C (p.Ser555Arg)
c.*1387A>C (n.*1387A>C)
c.2179A>C (p.Ser727Arg)
c.1459A>C (p.Ser487Arg)
c.2110A>C (p.Ser704Arg)
c.937A>C (p.Ser313Arg)
11g.68158167T=CA1980500620KMT5Bc.1966A= (p.Ser656=)
n.2531A=
c.*1803A= (n.*1803A=)
c.*1846A= (n.*1846A=)
c.1663A= (p.Ser555=)
c.*1387A= (n.*1387A=)
c.2179A= (p.Ser727=)
c.1459A= (p.Ser487=)
c.2110A= (p.Ser704=)
c.937A= (p.Ser313=)
11g.68158168G>ACA475515015KMT5Bc.1965C>T (p.Ser655=)
n.2530C>T
c.*1802C>T (n.*1802C>T)
c.*1845C>T (n.*1845C>T)
c.1662C>T (p.Ser554=)
c.*1386C>T (n.*1386C>T)
c.2178C>T (p.Ser726=)
c.1458C>T (p.Ser486=)
c.2109C>T (p.Ser703=)
c.936C>T (p.Ser312=)
gnomAD v4
11g.68158168G>CCA381588615KMT5Bc.1965C>G (p.Ser655Arg)
n.2530C>G
c.*1802C>G (n.*1802C>G)
c.*1845C>G (n.*1845C>G)
c.1662C>G (p.Ser554Arg)
c.*1386C>G (n.*1386C>G)
c.2178C>G (p.Ser726Arg)
c.1458C>G (p.Ser486Arg)
c.2109C>G (p.Ser703Arg)
c.936C>G (p.Ser312Arg)
11g.68158168G>TCA381588616KMT5Bc.1965C>A (p.Ser655Arg)
n.2530C>A
c.*1802C>A (n.*1802C>A)
c.*1845C>A (n.*1845C>A)
c.1662C>A (p.Ser554Arg)
c.*1386C>A (n.*1386C>A)
c.2178C>A (p.Ser726Arg)
c.1458C>A (p.Ser486Arg)
c.2109C>A (p.Ser703Arg)
c.936C>A (p.Ser312Arg)
11g.68158169delCA2695214894KMT5Bc.1964del (p.Ser655ThrfsTer13)
n.2529del
c.*1801del (n.*1801del)
c.*1844del (n.*1844del)
c.1661del (p.Ser554ThrfsTer13)
c.*1385del (n.*1385del)
c.2177del (p.Ser726ThrfsTer13)
c.1457del (p.Ser486ThrfsTer13)
c.2108del (p.Ser703ThrfsTer13)
c.935del (p.Ser312ThrfsTer13)
11g.68158169C>ACA381588617KMT5Bc.1964G>T (p.Ser655Ile)
n.2529G>T
c.*1801G>T (n.*1801G>T)
c.*1844G>T (n.*1844G>T)
c.1661G>T (p.Ser554Ile)
c.*1385G>T (n.*1385G>T)
c.2177G>T (p.Ser726Ile)
c.1457G>T (p.Ser486Ile)
c.2108G>T (p.Ser703Ile)
c.935G>T (p.Ser312Ile)
11g.68158169C>GCA381588618KMT5Bc.1964G>C (p.Ser655Thr)
n.2529G>C
c.*1801G>C (n.*1801G>C)
c.*1844G>C (n.*1844G>C)
c.1661G>C (p.Ser554Thr)
c.*1385G>C (n.*1385G>C)
c.2177G>C (p.Ser726Thr)
c.1457G>C (p.Ser486Thr)
c.2108G>C (p.Ser703Thr)
c.935G>C (p.Ser312Thr)
11g.68158169C>TCA381588619KMT5Bc.1964G>A (p.Ser655Asn)
n.2529G>A
c.*1801G>A (n.*1801G>A)
c.*1844G>A (n.*1844G>A)
c.1661G>A (p.Ser554Asn)
c.*1385G>A (n.*1385G>A)
c.2177G>A (p.Ser726Asn)
c.1457G>A (p.Ser486Asn)
c.2108G>A (p.Ser703Asn)
c.935G>A (p.Ser312Asn)
11g.68158169_68158170delinsGCA2580615744KMT5Bc.1963_1964delinsC (p.Ser655ProfsTer13)
n.2528_2529delinsC
c.*1800_*1801delinsC (n.*1800_*1801delinsC)
c.*1843_*1844delinsC (n.*1843_*1844delinsC)
c.1660_1661delinsC (p.Ser554ProfsTer13)
c.*1384_*1385delinsC (n.*1384_*1385delinsC)
c.2176_2177delinsC (p.Ser726ProfsTer13)
c.1456_1457delinsC (p.Ser486ProfsTer13)
c.2107_2108delinsC (p.Ser703ProfsTer13)
c.934_935delinsC (p.Ser312ProfsTer13)
ClinVar
11g.68158170T>ACA381588622KMT5Bc.1963A>T (p.Ser655Cys)
n.2528A>T
c.*1800A>T (n.*1800A>T)
c.*1843A>T (n.*1843A>T)
c.1660A>T (p.Ser554Cys)
c.*1384A>T (n.*1384A>T)
c.2176A>T (p.Ser726Cys)
c.1456A>T (p.Ser486Cys)
c.2107A>T (p.Ser703Cys)
c.934A>T (p.Ser312Cys)
11g.68158170T>CCA381588621KMT5Bc.1963A>G (p.Ser655Gly)
n.2528A>G
c.*1800A>G (n.*1800A>G)
c.*1843A>G (n.*1843A>G)
c.1660A>G (p.Ser554Gly)
c.*1384A>G (n.*1384A>G)
c.2176A>G (p.Ser726Gly)
c.1456A>G (p.Ser486Gly)
c.2107A>G (p.Ser703Gly)
c.934A>G (p.Ser312Gly)
11g.68158170T>GCA381588620KMT5Bc.1963A>C (p.Ser655Arg)
n.2528A>C
c.*1800A>C (n.*1800A>C)
c.*1843A>C (n.*1843A>C)
c.1660A>C (p.Ser554Arg)
c.*1384A>C (n.*1384A>C)
c.2176A>C (p.Ser726Arg)
c.1456A>C (p.Ser486Arg)
c.2107A>C (p.Ser703Arg)
c.934A>C (p.Ser312Arg)
11g.68158171A>CCA381588623KMT5Bc.1962T>G (p.Asp654Glu)
n.2527T>G
c.*1799T>G (n.*1799T>G)
c.*1842T>G (n.*1842T>G)
c.1659T>G (p.Asp553Glu)
c.*1383T>G (n.*1383T>G)
c.2175T>G (p.Asp725Glu)
c.1455T>G (p.Asp485Glu)
c.2106T>G (p.Asp702Glu)
c.933T>G (p.Asp311Glu)
11g.68158171A>GCA475515021KMT5Bc.1962T>C (p.Asp654=)
n.2527T>C
c.*1799T>C (n.*1799T>C)
c.*1842T>C (n.*1842T>C)
c.1659T>C (p.Asp553=)
c.*1383T>C (n.*1383T>C)
c.2175T>C (p.Asp725=)
c.1455T>C (p.Asp485=)
c.2106T>C (p.Asp702=)
c.933T>C (p.Asp311=)
11g.68158171A>TCA381588624KMT5Bc.1962T>A (p.Asp654Glu)
n.2527T>A
c.*1799T>A (n.*1799T>A)
c.*1842T>A (n.*1842T>A)
c.1659T>A (p.Asp553Glu)
c.*1383T>A (n.*1383T>A)
c.2175T>A (p.Asp725Glu)
c.1455T>A (p.Asp485Glu)
c.2106T>A (p.Asp702Glu)
c.933T>A (p.Asp311Glu)
11g.68158172T>ACA381588625KMT5Bc.1961A>T (p.Asp654Val)
n.2526A>T
c.*1798A>T (n.*1798A>T)
c.*1841A>T (n.*1841A>T)
c.1658A>T (p.Asp553Val)
c.*1382A>T (n.*1382A>T)
c.2174A>T (p.Asp725Val)
c.1454A>T (p.Asp485Val)
c.2105A>T (p.Asp702Val)
c.932A>T (p.Asp311Val)
11g.68158172T>CCA381588626KMT5Bc.1961A>G (p.Asp654Gly)
n.2526A>G
c.*1798A>G (n.*1798A>G)
c.*1841A>G (n.*1841A>G)
c.1658A>G (p.Asp553Gly)
c.*1382A>G (n.*1382A>G)
c.2174A>G (p.Asp725Gly)
c.1454A>G (p.Asp485Gly)
c.2105A>G (p.Asp702Gly)
c.932A>G (p.Asp311Gly)
COSMIC COSMIC
11g.68158172T>GCA381588627KMT5Bc.1961A>C (p.Asp654Ala)
n.2526A>C
c.*1798A>C (n.*1798A>C)
c.*1841A>C (n.*1841A>C)
c.1658A>C (p.Asp553Ala)
c.*1382A>C (n.*1382A>C)
c.2174A>C (p.Asp725Ala)
c.1454A>C (p.Asp485Ala)
c.2105A>C (p.Asp702Ala)
c.932A>C (p.Asp311Ala)
11g.68158173C>ACA381588628KMT5Bc.1960G>T (p.Asp654Tyr)
n.2525G>T
c.*1797G>T (n.*1797G>T)
c.*1840G>T (n.*1840G>T)
c.1657G>T (p.Asp553Tyr)
c.*1381G>T (n.*1381G>T)
c.2173G>T (p.Asp725Tyr)
c.1453G>T (p.Asp485Tyr)
c.2104G>T (p.Asp702Tyr)
c.931G>T (p.Asp311Tyr)
11g.68158173C=CA1980500622KMT5Bc.1960G= (p.Asp654=)
n.2525G=
c.*1797G= (n.*1797G=)
c.*1840G= (n.*1840G=)
c.1657G= (p.Asp553=)
c.*1381G= (n.*1381G=)
c.2173G= (p.Asp725=)
c.1453G= (p.Asp485=)
c.2104G= (p.Asp702=)
c.931G= (p.Asp311=)
11g.68158173C>GCA381588629KMT5Bc.1960G>C (p.Asp654His)
n.2525G>C
c.*1797G>C (n.*1797G>C)
c.*1840G>C (n.*1840G>C)
c.1657G>C (p.Asp553His)
c.*1381G>C (n.*1381G>C)
c.2173G>C (p.Asp725His)
c.1453G>C (p.Asp485His)
c.2104G>C (p.Asp702His)
c.931G>C (p.Asp311His)
dbSNP gnomAD v2
11g.68158173C>TCA381588630KMT5Bc.1960G>A (p.Asp654Asn)
n.2525G>A
c.*1797G>A (n.*1797G>A)
c.*1840G>A (n.*1840G>A)
c.1657G>A (p.Asp553Asn)
c.*1381G>A (n.*1381G>A)
c.2173G>A (p.Asp725Asn)
c.1453G>A (p.Asp485Asn)
c.2104G>A (p.Asp702Asn)
c.931G>A (p.Asp311Asn)
11g.68158174A=CA1980500626KMT5Bc.1959T= (p.His653=)
n.2524T=
c.*1796T= (n.*1796T=)
c.*1839T= (n.*1839T=)
c.1656T= (p.His552=)
c.*1380T= (n.*1380T=)
c.2172T= (p.His724=)
c.1452T= (p.His484=)
c.2103T= (p.His701=)
c.930T= (p.His310=)
11g.68158174A>CCA381588631KMT5Bc.1959T>G (p.His653Gln)
n.2524T>G
c.*1796T>G (n.*1796T>G)
c.*1839T>G (n.*1839T>G)
c.1656T>G (p.His552Gln)
c.*1380T>G (n.*1380T>G)
c.2172T>G (p.His724Gln)
c.1452T>G (p.His484Gln)
c.2103T>G (p.His701Gln)
c.930T>G (p.His310Gln)
11g.68158174A>GCA475515026KMT5Bc.1959T>C (p.His653=)
n.2524T>C
c.*1796T>C (n.*1796T>C)
c.*1839T>C (n.*1839T>C)
c.1656T>C (p.His552=)
c.*1380T>C (n.*1380T>C)
c.2172T>C (p.His724=)
c.1452T>C (p.His484=)
c.2103T>C (p.His701=)
c.930T>C (p.His310=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158174A>TCA381588632KMT5Bc.1959T>A (p.His653Gln)
n.2524T>A
c.*1796T>A (n.*1796T>A)
c.*1839T>A (n.*1839T>A)
c.1656T>A (p.His552Gln)
c.*1380T>A (n.*1380T>A)
c.2172T>A (p.His724Gln)
c.1452T>A (p.His484Gln)
c.2103T>A (p.His701Gln)
c.930T>A (p.His310Gln)
11g.68158175T>ACA381588633KMT5Bc.1958A>T (p.His653Leu)
n.2523A>T
c.*1795A>T (n.*1795A>T)
c.*1838A>T (n.*1838A>T)
c.1655A>T (p.His552Leu)
c.*1379A>T (n.*1379A>T)
c.2171A>T (p.His724Leu)
c.1451A>T (p.His484Leu)
c.2102A>T (p.His701Leu)
c.929A>T (p.His310Leu)
dbSNP gnomAD v2 gnomAD v4
11g.68158175T>CCA381588634KMT5Bc.1958A>G (p.His653Arg)
n.2523A>G
c.*1795A>G (n.*1795A>G)
c.*1838A>G (n.*1838A>G)
c.1655A>G (p.His552Arg)
c.*1379A>G (n.*1379A>G)
c.2171A>G (p.His724Arg)
c.1451A>G (p.His484Arg)
c.2102A>G (p.His701Arg)
c.929A>G (p.His310Arg)
dbSNP gnomAD v2 gnomAD v4
11g.68158175T>GCA381588635KMT5Bc.1958A>C (p.His653Pro)
n.2523A>C
c.*1795A>C (n.*1795A>C)
c.*1838A>C (n.*1838A>C)
c.1655A>C (p.His552Pro)
c.*1379A>C (n.*1379A>C)
c.2171A>C (p.His724Pro)
c.1451A>C (p.His484Pro)
c.2102A>C (p.His701Pro)
c.929A>C (p.His310Pro)
11g.68158175T=CA1980500627KMT5Bc.1958A= (p.His653=)
n.2523A=
c.*1795A= (n.*1795A=)
c.*1838A= (n.*1838A=)
c.1655A= (p.His552=)
c.*1379A= (n.*1379A=)
c.2171A= (p.His724=)
c.1451A= (p.His484=)
c.2102A= (p.His701=)
c.929A= (p.His310=)
11g.68158176G>ACA381588637KMT5Bc.1957C>T (p.His653Tyr)
n.2522C>T
c.*1794C>T (n.*1794C>T)
c.*1837C>T (n.*1837C>T)
c.1654C>T (p.His552Tyr)
c.*1378C>T (n.*1378C>T)
c.2170C>T (p.His724Tyr)
c.1450C>T (p.His484Tyr)
c.2101C>T (p.His701Tyr)
c.928C>T (p.His310Tyr)
11g.68158176G>CCA381588638KMT5Bc.1957C>G (p.His653Asp)
n.2522C>G
c.*1794C>G (n.*1794C>G)
c.*1837C>G (n.*1837C>G)
c.1654C>G (p.His552Asp)
c.*1378C>G (n.*1378C>G)
c.2170C>G (p.His724Asp)
c.1450C>G (p.His484Asp)
c.2101C>G (p.His701Asp)
c.928C>G (p.His310Asp)
11g.68158176G>TCA381588636KMT5Bc.1957C>A (p.His653Asn)
n.2522C>A
c.*1794C>A (n.*1794C>A)
c.*1837C>A (n.*1837C>A)
c.1654C>A (p.His552Asn)
c.*1378C>A (n.*1378C>A)
c.2170C>A (p.His724Asn)
c.1450C>A (p.His484Asn)
c.2101C>A (p.His701Asn)
c.928C>A (p.His310Asn)
gnomAD v4
11g.68158177A=CA1980500631KMT5Bc.1956T= (p.Arg652=)
n.2521T=
c.*1793T= (n.*1793T=)
c.*1836T= (n.*1836T=)
c.1653T= (p.Arg551=)
c.*1377T= (n.*1377T=)
c.2169T= (p.Arg723=)
c.1449T= (p.Arg483=)
c.2100T= (p.Arg700=)
c.927T= (p.Arg309=)
11g.68158177A>CCA475515028KMT5Bc.1956T>G (p.Arg652=)
n.2521T>G
c.*1793T>G (n.*1793T>G)
c.*1836T>G (n.*1836T>G)
c.1653T>G (p.Arg551=)
c.*1377T>G (n.*1377T>G)
c.2169T>G (p.Arg723=)
c.1449T>G (p.Arg483=)
c.2100T>G (p.Arg700=)
c.927T>G (p.Arg309=)
11g.68158177A>GCA475515029KMT5Bc.1956T>C (p.Arg652=)
n.2521T>C
c.*1793T>C (n.*1793T>C)
c.*1836T>C (n.*1836T>C)
c.1653T>C (p.Arg551=)
c.*1377T>C (n.*1377T>C)
c.2169T>C (p.Arg723=)
c.1449T>C (p.Arg483=)
c.2100T>C (p.Arg700=)
c.927T>C (p.Arg309=)
11g.68158177A>TCA6148045KMT5Bc.1956T>A (p.Arg652=)
n.2521T>A
c.*1793T>A (n.*1793T>A)
c.*1836T>A (n.*1836T>A)
c.1653T>A (p.Arg551=)
c.*1377T>A (n.*1377T>A)
c.2169T>A (p.Arg723=)
c.1449T>A (p.Arg483=)
c.2100T>A (p.Arg700=)
c.927T>A (p.Arg309=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158178C>ACA381588639KMT5Bc.1955G>T (p.Arg652Leu)
n.2520G>T
c.*1792G>T (n.*1792G>T)
c.*1835G>T (n.*1835G>T)
c.1652G>T (p.Arg551Leu)
c.*1376G>T (n.*1376G>T)
c.2168G>T (p.Arg723Leu)
c.1448G>T (p.Arg483Leu)
c.2099G>T (p.Arg700Leu)
c.926G>T (p.Arg309Leu)
11g.68158178C=CA1980500635KMT5Bc.1955G= (p.Arg652=)
n.2520G=
c.*1792G= (n.*1792G=)
c.*1835G= (n.*1835G=)
c.1652G= (p.Arg551=)
c.*1376G= (n.*1376G=)
c.2168G= (p.Arg723=)
c.1448G= (p.Arg483=)
c.2099G= (p.Arg700=)
c.926G= (p.Arg309=)
11g.68158178C>GCA381588640KMT5Bc.1955G>C (p.Arg652Pro)
n.2520G>C
c.*1792G>C (n.*1792G>C)
c.*1835G>C (n.*1835G>C)
c.1652G>C (p.Arg551Pro)
c.*1376G>C (n.*1376G>C)
c.2168G>C (p.Arg723Pro)
c.1448G>C (p.Arg483Pro)
c.2099G>C (p.Arg700Pro)
c.926G>C (p.Arg309Pro)
11g.68158178C>TCA381588641KMT5Bc.1955G>A (p.Arg652His)
n.2520G>A
c.*1792G>A (n.*1792G>A)
c.*1835G>A (n.*1835G>A)
c.1652G>A (p.Arg551His)
c.*1376G>A (n.*1376G>A)
c.2168G>A (p.Arg723His)
c.1448G>A (p.Arg483His)
c.2099G>A (p.Arg700His)
c.926G>A (p.Arg309His)
dbSNP gnomAD v4
11g.68158179G>ACA381588642KMT5Bc.1954C>T (p.Arg652Cys)
n.2519C>T
c.*1791C>T (n.*1791C>T)
c.*1834C>T (n.*1834C>T)
c.1651C>T (p.Arg551Cys)
c.*1375C>T (n.*1375C>T)
c.2167C>T (p.Arg723Cys)
c.1447C>T (p.Arg483Cys)
c.2098C>T (p.Arg700Cys)
c.925C>T (p.Arg309Cys)
dbSNP gnomAD v4
11g.68158179G>CCA381588643KMT5Bc.1954C>G (p.Arg652Gly)
n.2519C>G
c.*1791C>G (n.*1791C>G)
c.*1834C>G (n.*1834C>G)
c.1651C>G (p.Arg551Gly)
c.*1375C>G (n.*1375C>G)
c.2167C>G (p.Arg723Gly)
c.1447C>G (p.Arg483Gly)
c.2098C>G (p.Arg700Gly)
c.925C>G (p.Arg309Gly)
11g.68158179G=CA1980500644KMT5Bc.1954C= (p.Arg652=)
n.2519C=
c.*1791C= (n.*1791C=)
c.*1834C= (n.*1834C=)
c.1651C= (p.Arg551=)
c.*1375C= (n.*1375C=)
c.2167C= (p.Arg723=)
c.1447C= (p.Arg483=)
c.2098C= (p.Arg700=)
c.925C= (p.Arg309=)
11g.68158179G>TCA381588644KMT5Bc.1954C>A (p.Arg652Ser)
n.2519C>A
c.*1791C>A (n.*1791C>A)
c.*1834C>A (n.*1834C>A)
c.1651C>A (p.Arg551Ser)
c.*1375C>A (n.*1375C>A)
c.2167C>A (p.Arg723Ser)
c.1447C>A (p.Arg483Ser)
c.2098C>A (p.Arg700Ser)
c.925C>A (p.Arg309Ser)
11g.68158180C>ACA381588646KMT5Bc.1953G>T (p.Arg651Ser)
n.2518G>T
c.*1790G>T (n.*1790G>T)
c.*1833G>T (n.*1833G>T)
c.1650G>T (p.Arg550Ser)
c.*1374G>T (n.*1374G>T)
c.2166G>T (p.Arg722Ser)
c.1446G>T (p.Arg482Ser)
c.2097G>T (p.Arg699Ser)
c.924G>T (p.Arg308Ser)
11g.68158180C>GCA381588645KMT5Bc.1953G>C (p.Arg651Ser)
n.2518G>C
c.*1790G>C (n.*1790G>C)
c.*1833G>C (n.*1833G>C)
c.1650G>C (p.Arg550Ser)
c.*1374G>C (n.*1374G>C)
c.2166G>C (p.Arg722Ser)
c.1446G>C (p.Arg482Ser)
c.2097G>C (p.Arg699Ser)
c.924G>C (p.Arg308Ser)
11g.68158180C>TCA475515033KMT5Bc.1953G>A (p.Arg651=)
n.2518G>A
c.*1790G>A (n.*1790G>A)
c.*1833G>A (n.*1833G>A)
c.1650G>A (p.Arg550=)
c.*1374G>A (n.*1374G>A)
c.2166G>A (p.Arg722=)
c.1446G>A (p.Arg482=)
c.2097G>A (p.Arg699=)
c.924G>A (p.Arg308=)
gnomAD v4
11g.68158181C>ACA381588647KMT5Bc.1952G>T (p.Arg651Met)
n.2517G>T
c.*1789G>T (n.*1789G>T)
c.*1832G>T (n.*1832G>T)
c.1649G>T (p.Arg550Met)
c.*1373G>T (n.*1373G>T)
c.2165G>T (p.Arg722Met)
c.1445G>T (p.Arg482Met)
c.2096G>T (p.Arg699Met)
c.923G>T (p.Arg308Met)
11g.68158181C>GCA381588648KMT5Bc.1952G>C (p.Arg651Thr)
n.2517G>C
c.*1789G>C (n.*1789G>C)
c.*1832G>C (n.*1832G>C)
c.1649G>C (p.Arg550Thr)
c.*1373G>C (n.*1373G>C)
c.2165G>C (p.Arg722Thr)
c.1445G>C (p.Arg482Thr)
c.2096G>C (p.Arg699Thr)
c.923G>C (p.Arg308Thr)
ClinVar dbSNP
11g.68158181C>TCA381588649KMT5Bc.1952G>A (p.Arg651Lys)
n.2517G>A
c.*1789G>A (n.*1789G>A)
c.*1832G>A (n.*1832G>A)
c.1649G>A (p.Arg550Lys)
c.*1373G>A (n.*1373G>A)
c.2165G>A (p.Arg722Lys)
c.1445G>A (p.Arg482Lys)
c.2096G>A (p.Arg699Lys)
c.923G>A (p.Arg308Lys)
11g.68158182T>ACA381588650KMT5Bc.1951A>T (p.Arg651Trp)
n.2516A>T
c.*1788A>T (n.*1788A>T)
c.*1831A>T (n.*1831A>T)
c.1648A>T (p.Arg550Trp)
c.*1372A>T (n.*1372A>T)
c.2164A>T (p.Arg722Trp)
c.1444A>T (p.Arg482Trp)
c.2095A>T (p.Arg699Trp)
c.922A>T (p.Arg308Trp)
11g.68158182T>CCA381588651KMT5Bc.1951A>G (p.Arg651Gly)
n.2516A>G
c.*1788A>G (n.*1788A>G)
c.*1831A>G (n.*1831A>G)
c.1648A>G (p.Arg550Gly)
c.*1372A>G (n.*1372A>G)
c.2164A>G (p.Arg722Gly)
c.1444A>G (p.Arg482Gly)
c.2095A>G (p.Arg699Gly)
c.922A>G (p.Arg308Gly)
11g.68158182T>GCA475515037KMT5Bc.1951A>C (p.Arg651=)
n.2516A>C
c.*1788A>C (n.*1788A>C)
c.*1831A>C (n.*1831A>C)
c.1648A>C (p.Arg550=)
c.*1372A>C (n.*1372A>C)
c.2164A>C (p.Arg722=)
c.1444A>C (p.Arg482=)
c.2095A>C (p.Arg699=)
c.922A>C (p.Arg308=)
11g.68158183A=CA1980500648KMT5Bc.1950T= (p.Arg650=)
n.2515T=
c.*1787T= (n.*1787T=)
c.*1830T= (n.*1830T=)
c.1647T= (p.Arg549=)
c.*1371T= (n.*1371T=)
c.2163T= (p.Arg721=)
c.1443T= (p.Arg481=)
c.2094T= (p.Arg698=)
c.921T= (p.Arg307=)
11g.68158183A>CCA475515038KMT5Bc.1950T>G (p.Arg650=)
n.2515T>G
c.*1787T>G (n.*1787T>G)
c.*1830T>G (n.*1830T>G)
c.1647T>G (p.Arg549=)
c.*1371T>G (n.*1371T>G)
c.2163T>G (p.Arg721=)
c.1443T>G (p.Arg481=)
c.2094T>G (p.Arg698=)
c.921T>G (p.Arg307=)
11g.68158183A>GCA6148046KMT5Bc.1950T>C (p.Arg650=)
n.2515T>C
c.*1787T>C (n.*1787T>C)
c.*1830T>C (n.*1830T>C)
c.1647T>C (p.Arg549=)
c.*1371T>C (n.*1371T>C)
c.2163T>C (p.Arg721=)
c.1443T>C (p.Arg481=)
c.2094T>C (p.Arg698=)
c.921T>C (p.Arg307=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158183A>TCA475515039KMT5Bc.1950T>A (p.Arg650=)
n.2515T>A
c.*1787T>A (n.*1787T>A)
c.*1830T>A (n.*1830T>A)
c.1647T>A (p.Arg549=)
c.*1371T>A (n.*1371T>A)
c.2163T>A (p.Arg721=)
c.1443T>A (p.Arg481=)
c.2094T>A (p.Arg698=)
c.921T>A (p.Arg307=)
11g.68158184C>ACA381588652KMT5Bc.1949G>T (p.Arg650Leu)
n.2514G>T
c.*1786G>T (n.*1786G>T)
c.*1829G>T (n.*1829G>T)
c.1646G>T (p.Arg549Leu)
c.*1370G>T (n.*1370G>T)
c.2162G>T (p.Arg721Leu)
c.1442G>T (p.Arg481Leu)
c.2093G>T (p.Arg698Leu)
c.920G>T (p.Arg307Leu)
11g.68158184C=CA1980500653KMT5Bc.1949G= (p.Arg650=)
n.2514G=
c.*1786G= (n.*1786G=)
c.*1829G= (n.*1829G=)
c.1646G= (p.Arg549=)
c.*1370G= (n.*1370G=)
c.2162G= (p.Arg721=)
c.1442G= (p.Arg481=)
c.2093G= (p.Arg698=)
c.920G= (p.Arg307=)
11g.68158184C>GCA381588654KMT5Bc.1949G>C (p.Arg650Pro)
n.2514G>C
c.*1786G>C (n.*1786G>C)
c.*1829G>C (n.*1829G>C)
c.1646G>C (p.Arg549Pro)
c.*1370G>C (n.*1370G>C)
c.2162G>C (p.Arg721Pro)
c.1442G>C (p.Arg481Pro)
c.2093G>C (p.Arg698Pro)
c.920G>C (p.Arg307Pro)
11g.68158184C>TCA381588653KMT5Bc.1949G>A (p.Arg650His)
n.2514G>A
c.*1786G>A (n.*1786G>A)
c.*1829G>A (n.*1829G>A)
c.1646G>A (p.Arg549His)
c.*1370G>A (n.*1370G>A)
c.2162G>A (p.Arg721His)
c.1442G>A (p.Arg481His)
c.2093G>A (p.Arg698His)
c.920G>A (p.Arg307His)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.68158185G>ACA381588655KMT5Bc.1948C>T (p.Arg650Cys)
n.2513C>T
c.*1785C>T (n.*1785C>T)
c.*1828C>T (n.*1828C>T)
c.1645C>T (p.Arg549Cys)
c.*1369C>T (n.*1369C>T)
c.2161C>T (p.Arg721Cys)
c.1441C>T (p.Arg481Cys)
c.2092C>T (p.Arg698Cys)
c.919C>T (p.Arg307Cys)
dbSNP gnomAD v4 COSMIC COSMIC
11g.68158185G>CCA381588656KMT5Bc.1948C>G (p.Arg650Gly)
n.2513C>G
c.*1785C>G (n.*1785C>G)
c.*1828C>G (n.*1828C>G)
c.1645C>G (p.Arg549Gly)
c.*1369C>G (n.*1369C>G)
c.2161C>G (p.Arg721Gly)
c.1441C>G (p.Arg481Gly)
c.2092C>G (p.Arg698Gly)
c.919C>G (p.Arg307Gly)
11g.68158185G=CA1980500657KMT5Bc.1948C= (p.Arg650=)
n.2513C=
c.*1785C= (n.*1785C=)
c.*1828C= (n.*1828C=)
c.1645C= (p.Arg549=)
c.*1369C= (n.*1369C=)
c.2161C= (p.Arg721=)
c.1441C= (p.Arg481=)
c.2092C= (p.Arg698=)
c.919C= (p.Arg307=)
11g.68158185G>TCA381588657KMT5Bc.1948C>A (p.Arg650Ser)
n.2513C>A
c.*1785C>A (n.*1785C>A)
c.*1828C>A (n.*1828C>A)
c.1645C>A (p.Arg549Ser)
c.*1369C>A (n.*1369C>A)
c.2161C>A (p.Arg721Ser)
c.1441C>A (p.Arg481Ser)
c.2092C>A (p.Arg698Ser)
c.919C>A (p.Arg307Ser)
11g.68158186A=CA1980500661KMT5Bc.1947T= (p.Leu649=)
n.2512T=
c.*1784T= (n.*1784T=)
c.*1827T= (n.*1827T=)
c.1644T= (p.Leu548=)
c.*1368T= (n.*1368T=)
c.2160T= (p.Leu720=)
c.1440T= (p.Leu480=)
c.2091T= (p.Leu697=)
c.918T= (p.Leu306=)
11g.68158186A>CCA6148048KMT5Bc.1947T>G (p.Leu649=)
n.2512T>G
c.*1784T>G (n.*1784T>G)
c.*1827T>G (n.*1827T>G)
c.1644T>G (p.Leu548=)
c.*1368T>G (n.*1368T>G)
c.2160T>G (p.Leu720=)
c.1440T>G (p.Leu480=)
c.2091T>G (p.Leu697=)
c.918T>G (p.Leu306=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158186A>GCA6148047KMT5Bc.1947T>C (p.Leu649=)
n.2512T>C
c.*1784T>C (n.*1784T>C)
c.*1827T>C (n.*1827T>C)
c.1644T>C (p.Leu548=)
c.*1368T>C (n.*1368T>C)
c.2160T>C (p.Leu720=)
c.1440T>C (p.Leu480=)
c.2091T>C (p.Leu697=)
c.918T>C (p.Leu306=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158186A>TCA475514800KMT5Bc.1947T>A (p.Leu649=)
n.2512T>A
c.*1784T>A (n.*1784T>A)
c.*1827T>A (n.*1827T>A)
c.1644T>A (p.Leu548=)
c.*1368T>A (n.*1368T>A)
c.2160T>A (p.Leu720=)
c.1440T>A (p.Leu480=)
c.2091T>A (p.Leu697=)
c.918T>A (p.Leu306=)
11g.68158187A>CCA381589441KMT5Bc.1946T>G (p.Leu649Arg)
n.2511T>G
c.*1783T>G (n.*1783T>G)
c.*1826T>G (n.*1826T>G)
c.1643T>G (p.Leu548Arg)
c.*1367T>G (n.*1367T>G)
c.2159T>G (p.Leu720Arg)
c.1439T>G (p.Leu480Arg)
c.2090T>G (p.Leu697Arg)
c.917T>G (p.Leu306Arg)
11g.68158187A>GCA381589443KMT5Bc.1946T>C (p.Leu649Pro)
n.2511T>C
c.*1783T>C (n.*1783T>C)
c.*1826T>C (n.*1826T>C)
c.1643T>C (p.Leu548Pro)
c.*1367T>C (n.*1367T>C)
c.2159T>C (p.Leu720Pro)
c.1439T>C (p.Leu480Pro)
c.2090T>C (p.Leu697Pro)
c.917T>C (p.Leu306Pro)
11g.68158187A>TCA381589444KMT5Bc.1946T>A (p.Leu649His)
n.2511T>A
c.*1783T>A (n.*1783T>A)
c.*1826T>A (n.*1826T>A)
c.1643T>A (p.Leu548His)
c.*1367T>A (n.*1367T>A)
c.2159T>A (p.Leu720His)
c.1439T>A (p.Leu480His)
c.2090T>A (p.Leu697His)
c.917T>A (p.Leu306His)
11g.68158189_68158190delCA645596787KMT5Bc.1945_1946del (p.Leu649SerfsTer2)
n.2510_2511del
c.*1782_*1783del (n.*1782_*1783del)
c.*1825_*1826del (n.*1825_*1826del)
c.1642_1643del (p.Leu548SerfsTer2)
c.*1366_*1367del (n.*1366_*1367del)
c.2158_2159del (p.Leu720SerfsTer2)
c.1438_1439del (p.Leu480SerfsTer2)
c.2089_2090del (p.Leu697SerfsTer2)
c.916_917del (p.Leu306SerfsTer2)
COSMIC COSMIC
11g.68158188G>ACA381589446KMT5Bc.1945C>T (p.Leu649Phe)
n.2510C>T
c.*1782C>T (n.*1782C>T)
c.*1825C>T (n.*1825C>T)
c.1642C>T (p.Leu548Phe)
c.*1366C>T (n.*1366C>T)
c.2158C>T (p.Leu720Phe)
c.1438C>T (p.Leu480Phe)
c.2089C>T (p.Leu697Phe)
c.916C>T (p.Leu306Phe)
11g.68158188G>CCA381589449KMT5Bc.1945C>G (p.Leu649Val)
n.2510C>G
c.*1782C>G (n.*1782C>G)
c.*1825C>G (n.*1825C>G)
c.1642C>G (p.Leu548Val)
c.*1366C>G (n.*1366C>G)
c.2158C>G (p.Leu720Val)
c.1438C>G (p.Leu480Val)
c.2089C>G (p.Leu697Val)
c.916C>G (p.Leu306Val)
11g.68158188G>TCA381589452KMT5Bc.1945C>A (p.Leu649Ile)
n.2510C>A
c.*1782C>A (n.*1782C>A)
c.*1825C>A (n.*1825C>A)
c.1642C>A (p.Leu548Ile)
c.*1366C>A (n.*1366C>A)
c.2158C>A (p.Leu720Ile)
c.1438C>A (p.Leu480Ile)
c.2089C>A (p.Leu697Ile)
c.916C>A (p.Leu306Ile)
11g.68158189A=CA1980500671KMT5Bc.1944T= (p.Thr648=)
n.2509T=
c.*1781T= (n.*1781T=)
c.*1824T= (n.*1824T=)
c.1641T= (p.Thr547=)
c.*1365T= (n.*1365T=)
c.2157T= (p.Thr719=)
c.1437T= (p.Thr479=)
c.2088T= (p.Thr696=)
c.915T= (p.Thr305=)
11g.68158189A>CCA475514805KMT5Bc.1944T>G (p.Thr648=)
n.2509T>G
c.*1781T>G (n.*1781T>G)
c.*1824T>G (n.*1824T>G)
c.1641T>G (p.Thr547=)
c.*1365T>G (n.*1365T>G)
c.2157T>G (p.Thr719=)
c.1437T>G (p.Thr479=)
c.2088T>G (p.Thr696=)
c.915T>G (p.Thr305=)
dbSNP gnomAD v4
11g.68158189A>GCA475514804KMT5Bc.1944T>C (p.Thr648=)
n.2509T>C
c.*1781T>C (n.*1781T>C)
c.*1824T>C (n.*1824T>C)
c.1641T>C (p.Thr547=)
c.*1365T>C (n.*1365T>C)
c.2157T>C (p.Thr719=)
c.1437T>C (p.Thr479=)
c.2088T>C (p.Thr696=)
c.915T>C (p.Thr305=)
11g.68158189A>TCA475514803KMT5Bc.1944T>A (p.Thr648=)
n.2509T>A
c.*1781T>A (n.*1781T>A)
c.*1824T>A (n.*1824T>A)
c.1641T>A (p.Thr547=)
c.*1365T>A (n.*1365T>A)
c.2157T>A (p.Thr719=)
c.1437T>A (p.Thr479=)
c.2088T>A (p.Thr696=)
c.915T>A (p.Thr305=)
11g.68158190G>ACA381589461KMT5Bc.1943C>T (p.Thr648Ile)
n.2508C>T
c.*1780C>T (n.*1780C>T)
c.*1823C>T (n.*1823C>T)
c.1640C>T (p.Thr547Ile)
c.*1364C>T (n.*1364C>T)
c.2156C>T (p.Thr719Ile)
c.1436C>T (p.Thr479Ile)
c.2087C>T (p.Thr696Ile)
c.914C>T (p.Thr305Ile)
11g.68158190G>CCA381589456KMT5Bc.1943C>G (p.Thr648Ser)
n.2508C>G
c.*1780C>G (n.*1780C>G)
c.*1823C>G (n.*1823C>G)
c.1640C>G (p.Thr547Ser)
c.*1364C>G (n.*1364C>G)
c.2156C>G (p.Thr719Ser)
c.1436C>G (p.Thr479Ser)
c.2087C>G (p.Thr696Ser)
c.914C>G (p.Thr305Ser)
11g.68158190G>TCA381589455KMT5Bc.1943C>A (p.Thr648Asn)
n.2508C>A
c.*1780C>A (n.*1780C>A)
c.*1823C>A (n.*1823C>A)
c.1640C>A (p.Thr547Asn)
c.*1364C>A (n.*1364C>A)
c.2156C>A (p.Thr719Asn)
c.1436C>A (p.Thr479Asn)
c.2087C>A (p.Thr696Asn)
c.914C>A (p.Thr305Asn)
11g.68158191T>ACA381589465KMT5Bc.1942A>T (p.Thr648Ser)
n.2507A>T
c.*1779A>T (n.*1779A>T)
c.*1822A>T (n.*1822A>T)
c.1639A>T (p.Thr547Ser)
c.*1363A>T (n.*1363A>T)
c.2155A>T (p.Thr719Ser)
c.1435A>T (p.Thr479Ser)
c.2086A>T (p.Thr696Ser)
c.913A>T (p.Thr305Ser)
11g.68158191T>CCA381589467KMT5Bc.1942A>G (p.Thr648Ala)
n.2507A>G
c.*1779A>G (n.*1779A>G)
c.*1822A>G (n.*1822A>G)
c.1639A>G (p.Thr547Ala)
c.*1363A>G (n.*1363A>G)
c.2155A>G (p.Thr719Ala)
c.1435A>G (p.Thr479Ala)
c.2086A>G (p.Thr696Ala)
c.913A>G (p.Thr305Ala)
11g.68158191T>GCA381589476KMT5Bc.1942A>C (p.Thr648Pro)
n.2507A>C
c.*1779A>C (n.*1779A>C)
c.*1822A>C (n.*1822A>C)
c.1639A>C (p.Thr547Pro)
c.*1363A>C (n.*1363A>C)
c.2155A>C (p.Thr719Pro)
c.1435A>C (p.Thr479Pro)
c.2086A>C (p.Thr696Pro)
c.913A>C (p.Thr305Pro)
11g.68158192C>ACA381589480KMT5Bc.1941G>T (p.Leu647Phe)
n.2506G>T
c.*1778G>T (n.*1778G>T)
c.*1821G>T (n.*1821G>T)
c.1638G>T (p.Leu546Phe)
c.*1362G>T (n.*1362G>T)
c.2154G>T (p.Leu718Phe)
c.1434G>T (p.Leu478Phe)
c.2085G>T (p.Leu695Phe)
c.912G>T (p.Leu304Phe)
11g.68158192C=CA1980500677KMT5Bc.1941G= (p.Leu647=)
n.2506G=
c.*1778G= (n.*1778G=)
c.*1821G= (n.*1821G=)
c.1638G= (p.Leu546=)
c.*1362G= (n.*1362G=)
c.2154G= (p.Leu718=)
c.1434G= (p.Leu478=)
c.2085G= (p.Leu695=)
c.912G= (p.Leu304=)
11g.68158192C>GCA381589483KMT5Bc.1941G>C (p.Leu647Phe)
n.2506G>C
c.*1778G>C (n.*1778G>C)
c.*1821G>C (n.*1821G>C)
c.1638G>C (p.Leu546Phe)
c.*1362G>C (n.*1362G>C)
c.2154G>C (p.Leu718Phe)
c.1434G>C (p.Leu478Phe)
c.2085G>C (p.Leu695Phe)
c.912G>C (p.Leu304Phe)
11g.68158192C>TCA475514808KMT5Bc.1941G>A (p.Leu647=)
n.2506G>A
c.*1778G>A (n.*1778G>A)
c.*1821G>A (n.*1821G>A)
c.1638G>A (p.Leu546=)
c.*1362G>A (n.*1362G>A)
c.2154G>A (p.Leu718=)
c.1434G>A (p.Leu478=)
c.2085G>A (p.Leu695=)
c.912G>A (p.Leu304=)
dbSNP gnomAD v3 gnomAD v4
11g.68158193A>CCA381589492KMT5Bc.1940T>G (p.Leu647Trp)
n.2505T>G
c.*1777T>G (n.*1777T>G)
c.*1820T>G (n.*1820T>G)
c.1637T>G (p.Leu546Trp)
c.*1361T>G (n.*1361T>G)
c.2153T>G (p.Leu718Trp)
c.1433T>G (p.Leu478Trp)
c.2084T>G (p.Leu695Trp)
c.911T>G (p.Leu304Trp)
11g.68158193A>GCA381589494KMT5Bc.1940T>C (p.Leu647Ser)
n.2505T>C
c.*1777T>C (n.*1777T>C)
c.*1820T>C (n.*1820T>C)
c.1637T>C (p.Leu546Ser)
c.*1361T>C (n.*1361T>C)
c.2153T>C (p.Leu718Ser)
c.1433T>C (p.Leu478Ser)
c.2084T>C (p.Leu695Ser)
c.911T>C (p.Leu304Ser)
11g.68158193A>TCA381589496KMT5Bc.1940T>A (p.Leu647Ter)
n.2505T>A
c.*1777T>A (n.*1777T>A)
c.*1820T>A (n.*1820T>A)
c.1637T>A (p.Leu546Ter)
c.*1361T>A (n.*1361T>A)
c.2153T>A (p.Leu718Ter)
c.1433T>A (p.Leu478Ter)
c.2084T>A (p.Leu695Ter)
c.911T>A (p.Leu304Ter)
11g.68158194A>CCA381589505KMT5Bc.1939T>G (p.Leu647Val)
n.2504T>G
c.*1776T>G (n.*1776T>G)
c.*1819T>G (n.*1819T>G)
c.1636T>G (p.Leu546Val)
c.*1360T>G (n.*1360T>G)
c.2152T>G (p.Leu718Val)
c.1432T>G (p.Leu478Val)
c.2083T>G (p.Leu695Val)
c.910T>G (p.Leu304Val)
11g.68158194A>GCA475514810KMT5Bc.1939T>C (p.Leu647=)
n.2504T>C
c.*1776T>C (n.*1776T>C)
c.*1819T>C (n.*1819T>C)
c.1636T>C (p.Leu546=)
c.*1360T>C (n.*1360T>C)
c.2152T>C (p.Leu718=)
c.1432T>C (p.Leu478=)
c.2083T>C (p.Leu695=)
c.910T>C (p.Leu304=)
gnomAD v4
11g.68158194A>TCA381589508KMT5Bc.1939T>A (p.Leu647Met)
n.2504T>A
c.*1776T>A (n.*1776T>A)
c.*1819T>A (n.*1819T>A)
c.1636T>A (p.Leu546Met)
c.*1360T>A (n.*1360T>A)
c.2152T>A (p.Leu718Met)
c.1432T>A (p.Leu478Met)
c.2083T>A (p.Leu695Met)
c.910T>A (p.Leu304Met)
11g.68158195T>ACA381589511KMT5Bc.1938A>T (p.Lys646Asn)
n.2503A>T
c.*1775A>T (n.*1775A>T)
c.*1818A>T (n.*1818A>T)
c.1635A>T (p.Lys545Asn)
c.*1359A>T (n.*1359A>T)
c.2151A>T (p.Lys717Asn)
c.1431A>T (p.Lys477Asn)
c.2082A>T (p.Lys694Asn)
c.909A>T (p.Lys303Asn)
11g.68158195T>CCA475514812KMT5Bc.1938A>G (p.Lys646=)
n.2503A>G
c.*1775A>G (n.*1775A>G)
c.*1818A>G (n.*1818A>G)
c.1635A>G (p.Lys545=)
c.*1359A>G (n.*1359A>G)
c.2151A>G (p.Lys717=)
c.1431A>G (p.Lys477=)
c.2082A>G (p.Lys694=)
c.909A>G (p.Lys303=)
gnomAD v4 COSMIC COSMIC
11g.68158195T>GCA381589514KMT5Bc.1938A>C (p.Lys646Asn)
n.2503A>C
c.*1775A>C (n.*1775A>C)
c.*1818A>C (n.*1818A>C)
c.1635A>C (p.Lys545Asn)
c.*1359A>C (n.*1359A>C)
c.2151A>C (p.Lys717Asn)
c.1431A>C (p.Lys477Asn)
c.2082A>C (p.Lys694Asn)
c.909A>C (p.Lys303Asn)
11g.68158196T>ACA381589520KMT5Bc.1937A>T (p.Lys646Ile)
n.2502A>T
c.*1774A>T (n.*1774A>T)
c.*1817A>T (n.*1817A>T)
c.1634A>T (p.Lys545Ile)
c.*1358A>T (n.*1358A>T)
c.2150A>T (p.Lys717Ile)
c.1430A>T (p.Lys477Ile)
c.2081A>T (p.Lys694Ile)
c.908A>T (p.Lys303Ile)
11g.68158196T>CCA381589522KMT5Bc.1937A>G (p.Lys646Arg)
n.2502A>G
c.*1774A>G (n.*1774A>G)
c.*1817A>G (n.*1817A>G)
c.1634A>G (p.Lys545Arg)
c.*1358A>G (n.*1358A>G)
c.2150A>G (p.Lys717Arg)
c.1430A>G (p.Lys477Arg)
c.2081A>G (p.Lys694Arg)
c.908A>G (p.Lys303Arg)
ClinVar gnomAD v4
11g.68158196T>GCA381589517KMT5Bc.1937A>C (p.Lys646Thr)
n.2502A>C
c.*1774A>C (n.*1774A>C)
c.*1817A>C (n.*1817A>C)
c.1634A>C (p.Lys545Thr)
c.*1358A>C (n.*1358A>C)
c.2150A>C (p.Lys717Thr)
c.1430A>C (p.Lys477Thr)
c.2081A>C (p.Lys694Thr)
c.908A>C (p.Lys303Thr)
11g.68158197T>ACA381589525KMT5Bc.1936A>T (p.Lys646Ter)
n.2501A>T
c.*1773A>T (n.*1773A>T)
c.*1816A>T (n.*1816A>T)
c.1633A>T (p.Lys545Ter)
c.*1357A>T (n.*1357A>T)
c.2149A>T (p.Lys717Ter)
c.1429A>T (p.Lys477Ter)
c.2080A>T (p.Lys694Ter)
c.907A>T (p.Lys303Ter)
11g.68158197T>CCA381589529KMT5Bc.1936A>G (p.Lys646Glu)
n.2501A>G
c.*1773A>G (n.*1773A>G)
c.*1816A>G (n.*1816A>G)
c.1633A>G (p.Lys545Glu)
c.*1357A>G (n.*1357A>G)
c.2149A>G (p.Lys717Glu)
c.1429A>G (p.Lys477Glu)
c.2080A>G (p.Lys694Glu)
c.907A>G (p.Lys303Glu)
11g.68158197T>GCA381589533KMT5Bc.1936A>C (p.Lys646Gln)
n.2501A>C
c.*1773A>C (n.*1773A>C)
c.*1816A>C (n.*1816A>C)
c.1633A>C (p.Lys545Gln)
c.*1357A>C (n.*1357A>C)
c.2149A>C (p.Lys717Gln)
c.1429A>C (p.Lys477Gln)
c.2080A>C (p.Lys694Gln)
c.907A>C (p.Lys303Gln)
11g.68158198G>ACA475514816KMT5Bc.1935C>T (p.Pro645=)
n.2500C>T
c.*1772C>T (n.*1772C>T)
c.*1815C>T (n.*1815C>T)
c.1632C>T (p.Pro544=)
c.*1356C>T (n.*1356C>T)
c.2148C>T (p.Pro716=)
c.1428C>T (p.Pro476=)
c.2079C>T (p.Pro693=)
c.906C>T (p.Pro302=)
gnomAD v4 COSMIC
11g.68158198G>CCA475514817KMT5Bc.1935C>G (p.Pro645=)
n.2500C>G
c.*1772C>G (n.*1772C>G)
c.*1815C>G (n.*1815C>G)
c.1632C>G (p.Pro544=)
c.*1356C>G (n.*1356C>G)
c.2148C>G (p.Pro716=)
c.1428C>G (p.Pro476=)
c.2079C>G (p.Pro693=)
c.906C>G (p.Pro302=)
11g.68158198G>TCA475514818KMT5Bc.1935C>A (p.Pro645=)
n.2500C>A
c.*1772C>A (n.*1772C>A)
c.*1815C>A (n.*1815C>A)
c.1632C>A (p.Pro544=)
c.*1356C>A (n.*1356C>A)
c.2148C>A (p.Pro716=)
c.1428C>A (p.Pro476=)
c.2079C>A (p.Pro693=)
c.906C>A (p.Pro302=)
11g.68158199G>ACA381589536KMT5Bc.1934C>T (p.Pro645Leu)
n.2499C>T
c.*1771C>T (n.*1771C>T)
c.*1814C>T (n.*1814C>T)
c.1631C>T (p.Pro544Leu)
c.*1355C>T (n.*1355C>T)
c.2147C>T (p.Pro716Leu)
c.1427C>T (p.Pro476Leu)
c.2078C>T (p.Pro693Leu)
c.905C>T (p.Pro302Leu)
11g.68158199G>CCA381589540KMT5Bc.1934C>G (p.Pro645Arg)
n.2499C>G
c.*1771C>G (n.*1771C>G)
c.*1814C>G (n.*1814C>G)
c.1631C>G (p.Pro544Arg)
c.*1355C>G (n.*1355C>G)
c.2147C>G (p.Pro716Arg)
c.1427C>G (p.Pro476Arg)
c.2078C>G (p.Pro693Arg)
c.905C>G (p.Pro302Arg)
11g.68158199G>TCA381589543KMT5Bc.1934C>A (p.Pro645His)
n.2499C>A
c.*1771C>A (n.*1771C>A)
c.*1814C>A (n.*1814C>A)
c.1631C>A (p.Pro544His)
c.*1355C>A (n.*1355C>A)
c.2147C>A (p.Pro716His)
c.1427C>A (p.Pro476His)
c.2078C>A (p.Pro693His)
c.905C>A (p.Pro302His)
11g.68158200G>ACA381589546KMT5Bc.1933C>T (p.Pro645Ser)
n.2498C>T
c.*1770C>T (n.*1770C>T)
c.*1813C>T (n.*1813C>T)
c.1630C>T (p.Pro544Ser)
c.*1354C>T (n.*1354C>T)
c.2146C>T (p.Pro716Ser)
c.1426C>T (p.Pro476Ser)
c.2077C>T (p.Pro693Ser)
c.904C>T (p.Pro302Ser)
11g.68158200G>CCA381589550KMT5Bc.1933C>G (p.Pro645Ala)
n.2498C>G
c.*1770C>G (n.*1770C>G)
c.*1813C>G (n.*1813C>G)
c.1630C>G (p.Pro544Ala)
c.*1354C>G (n.*1354C>G)
c.2146C>G (p.Pro716Ala)
c.1426C>G (p.Pro476Ala)
c.2077C>G (p.Pro693Ala)
c.904C>G (p.Pro302Ala)
11g.68158200G>TCA381589548KMT5Bc.1933C>A (p.Pro645Thr)
n.2498C>A
c.*1770C>A (n.*1770C>A)
c.*1813C>A (n.*1813C>A)
c.1630C>A (p.Pro544Thr)
c.*1354C>A (n.*1354C>A)
c.2146C>A (p.Pro716Thr)
c.1426C>A (p.Pro476Thr)
c.2077C>A (p.Pro693Thr)
c.904C>A (p.Pro302Thr)
11g.68158201A>CCA381589553KMT5Bc.1932T>G (p.Ile644Met)
n.2497T>G
c.*1769T>G (n.*1769T>G)
c.*1812T>G (n.*1812T>G)
c.1629T>G (p.Ile543Met)
c.*1353T>G (n.*1353T>G)
c.2145T>G (p.Ile715Met)
c.1425T>G (p.Ile475Met)
c.2076T>G (p.Ile692Met)
c.903T>G (p.Ile301Met)
11g.68158201A>GCA475514820KMT5Bc.1932T>C (p.Ile644=)
n.2497T>C
c.*1769T>C (n.*1769T>C)
c.*1812T>C (n.*1812T>C)
c.1629T>C (p.Ile543=)
c.*1353T>C (n.*1353T>C)
c.2145T>C (p.Ile715=)
c.1425T>C (p.Ile475=)
c.2076T>C (p.Ile692=)
c.903T>C (p.Ile301=)
11g.68158201A>TCA475514821KMT5Bc.1932T>A (p.Ile644=)
n.2497T>A
c.*1769T>A (n.*1769T>A)
c.*1812T>A (n.*1812T>A)
c.1629T>A (p.Ile543=)
c.*1353T>A (n.*1353T>A)
c.2145T>A (p.Ile715=)
c.1425T>A (p.Ile475=)
c.2076T>A (p.Ile692=)
c.903T>A (p.Ile301=)
11g.68158202A>CCA381589554KMT5Bc.1931T>G (p.Ile644Ser)
n.2496T>G
c.*1768T>G (n.*1768T>G)
c.*1811T>G (n.*1811T>G)
c.1628T>G (p.Ile543Ser)
c.*1352T>G (n.*1352T>G)
c.2144T>G (p.Ile715Ser)
c.1424T>G (p.Ile475Ser)
c.2075T>G (p.Ile692Ser)
c.902T>G (p.Ile301Ser)
11g.68158202A>GCA381589555KMT5Bc.1931T>C (p.Ile644Thr)
n.2496T>C
c.*1768T>C (n.*1768T>C)
c.*1811T>C (n.*1811T>C)
c.1628T>C (p.Ile543Thr)
c.*1352T>C (n.*1352T>C)
c.2144T>C (p.Ile715Thr)
c.1424T>C (p.Ile475Thr)
c.2075T>C (p.Ile692Thr)
c.902T>C (p.Ile301Thr)
11g.68158202A>TCA381589556KMT5Bc.1931T>A (p.Ile644Asn)
n.2496T>A
c.*1768T>A (n.*1768T>A)
c.*1811T>A (n.*1811T>A)
c.1628T>A (p.Ile543Asn)
c.*1352T>A (n.*1352T>A)
c.2144T>A (p.Ile715Asn)
c.1424T>A (p.Ile475Asn)
c.2075T>A (p.Ile692Asn)
c.902T>A (p.Ile301Asn)
11g.68158203T>ACA381589561KMT5Bc.1930A>T (p.Ile644Phe)
n.2495A>T
c.*1767A>T (n.*1767A>T)
c.*1810A>T (n.*1810A>T)
c.1627A>T (p.Ile543Phe)
c.*1351A>T (n.*1351A>T)
c.2143A>T (p.Ile715Phe)
c.1423A>T (p.Ile475Phe)
c.2074A>T (p.Ile692Phe)
c.901A>T (p.Ile301Phe)
11g.68158203T>CCA381589559KMT5Bc.1930A>G (p.Ile644Val)
n.2495A>G
c.*1767A>G (n.*1767A>G)
c.*1810A>G (n.*1810A>G)
c.1627A>G (p.Ile543Val)
c.*1351A>G (n.*1351A>G)
c.2143A>G (p.Ile715Val)
c.1423A>G (p.Ile475Val)
c.2074A>G (p.Ile692Val)
c.901A>G (p.Ile301Val)
dbSNP gnomAD v2
11g.68158203T>GCA381589558KMT5Bc.1930A>C (p.Ile644Leu)
n.2495A>C
c.*1767A>C (n.*1767A>C)
c.*1810A>C (n.*1810A>C)
c.1627A>C (p.Ile543Leu)
c.*1351A>C (n.*1351A>C)
c.2143A>C (p.Ile715Leu)
c.1423A>C (p.Ile475Leu)
c.2074A>C (p.Ile692Leu)
c.901A>C (p.Ile301Leu)
11g.68158203T=CA1980500680KMT5Bc.1930A= (p.Ile644=)
n.2495A=
c.*1767A= (n.*1767A=)
c.*1810A= (n.*1810A=)
c.1627A= (p.Ile543=)
c.*1351A= (n.*1351A=)
c.2143A= (p.Ile715=)
c.1423A= (p.Ile475=)
c.2074A= (p.Ile692=)
c.901A= (p.Ile301=)
11g.68158204C>ACA475514823KMT5Bc.1929G>T (p.Gly643=)
n.2494G>T
c.*1766G>T (n.*1766G>T)
c.*1809G>T (n.*1809G>T)
c.1626G>T (p.Gly542=)
c.*1350G>T (n.*1350G>T)
c.2142G>T (p.Gly714=)
c.1422G>T (p.Gly474=)
c.2073G>T (p.Gly691=)
c.900G>T (p.Gly300=)
11g.68158204C=CA1980500684KMT5Bc.1929G= (p.Gly643=)
n.2494G=
c.*1766G= (n.*1766G=)
c.*1809G= (n.*1809G=)
c.1626G= (p.Gly542=)
c.*1350G= (n.*1350G=)
c.2142G= (p.Gly714=)
c.1422G= (p.Gly474=)
c.2073G= (p.Gly691=)
c.900G= (p.Gly300=)
11g.68158204C>GCA475514824KMT5Bc.1929G>C (p.Gly643=)
n.2494G>C
c.*1766G>C (n.*1766G>C)
c.*1809G>C (n.*1809G>C)
c.1626G>C (p.Gly542=)
c.*1350G>C (n.*1350G>C)
c.2142G>C (p.Gly714=)
c.1422G>C (p.Gly474=)
c.2073G>C (p.Gly691=)
c.900G>C (p.Gly300=)
11g.68158204C>TCA6148049KMT5Bc.1929G>A (p.Gly643=)
n.2494G>A
c.*1766G>A (n.*1766G>A)
c.*1809G>A (n.*1809G>A)
c.1626G>A (p.Gly542=)
c.*1350G>A (n.*1350G>A)
c.2142G>A (p.Gly714=)
c.1422G>A (p.Gly474=)
c.2073G>A (p.Gly691=)
c.900G>A (p.Gly300=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158205C>ACA381589567KMT5Bc.1928G>T (p.Gly643Val)
n.2493G>T
c.*1765G>T (n.*1765G>T)
c.*1808G>T (n.*1808G>T)
c.1625G>T (p.Gly542Val)
c.*1349G>T (n.*1349G>T)
c.2141G>T (p.Gly714Val)
c.1421G>T (p.Gly474Val)
c.2072G>T (p.Gly691Val)
c.899G>T (p.Gly300Val)
11g.68158205C=CA1980500692KMT5Bc.1928G= (p.Gly643=)
n.2493G=
c.*1765G= (n.*1765G=)
c.*1808G= (n.*1808G=)
c.1625G= (p.Gly542=)
c.*1349G= (n.*1349G=)
c.2141G= (p.Gly714=)
c.1421G= (p.Gly474=)
c.2072G= (p.Gly691=)
c.899G= (p.Gly300=)
11g.68158205C>GCA381589566KMT5Bc.1928G>C (p.Gly643Ala)
n.2493G>C
c.*1765G>C (n.*1765G>C)
c.*1808G>C (n.*1808G>C)
c.1625G>C (p.Gly542Ala)
c.*1349G>C (n.*1349G>C)
c.2141G>C (p.Gly714Ala)
c.1421G>C (p.Gly474Ala)
c.2072G>C (p.Gly691Ala)
c.899G>C (p.Gly300Ala)
gnomAD v4
11g.68158205C>TCA6148050KMT5Bc.1928G>A (p.Gly643Glu)
n.2493G>A
c.*1765G>A (n.*1765G>A)
c.*1808G>A (n.*1808G>A)
c.1625G>A (p.Gly542Glu)
c.*1349G>A (n.*1349G>A)
c.2141G>A (p.Gly714Glu)
c.1421G>A (p.Gly474Glu)
c.2072G>A (p.Gly691Glu)
c.899G>A (p.Gly300Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158206C>ACA381589569KMT5Bc.1927G>T (p.Gly643Trp)
n.2492G>T
c.*1764G>T (n.*1764G>T)
c.*1807G>T (n.*1807G>T)
c.1624G>T (p.Gly542Trp)
c.*1348G>T (n.*1348G>T)
c.2140G>T (p.Gly714Trp)
c.1420G>T (p.Gly474Trp)
c.2071G>T (p.Gly691Trp)
c.898G>T (p.Gly300Trp)
11g.68158206C>GCA381589571KMT5Bc.1927G>C (p.Gly643Arg)
n.2492G>C
c.*1764G>C (n.*1764G>C)
c.*1807G>C (n.*1807G>C)
c.1624G>C (p.Gly542Arg)
c.*1348G>C (n.*1348G>C)
c.2140G>C (p.Gly714Arg)
c.1420G>C (p.Gly474Arg)
c.2071G>C (p.Gly691Arg)
c.898G>C (p.Gly300Arg)
11g.68158206C>TCA381589570KMT5Bc.1927G>A (p.Gly643Arg)
n.2492G>A
c.*1764G>A (n.*1764G>A)
c.*1807G>A (n.*1807G>A)
c.1624G>A (p.Gly542Arg)
c.*1348G>A (n.*1348G>A)
c.2140G>A (p.Gly714Arg)
c.1420G>A (p.Gly474Arg)
c.2071G>A (p.Gly691Arg)
c.898G>A (p.Gly300Arg)
11g.68158207A=CA1980500698KMT5Bc.1926T= (p.Ser642=)
n.2491T=
c.*1763T= (n.*1763T=)
c.*1806T= (n.*1806T=)
c.1623T= (p.Ser541=)
c.*1347T= (n.*1347T=)
c.2139T= (p.Ser713=)
c.1419T= (p.Ser473=)
c.2070T= (p.Ser690=)
c.897T= (p.Ser299=)
11g.68158207A>CCA475514829KMT5Bc.1926T>G (p.Ser642=)
n.2491T>G
c.*1763T>G (n.*1763T>G)
c.*1806T>G (n.*1806T>G)
c.1623T>G (p.Ser541=)
c.*1347T>G (n.*1347T>G)
c.2139T>G (p.Ser713=)
c.1419T>G (p.Ser473=)
c.2070T>G (p.Ser690=)
c.897T>G (p.Ser299=)
11g.68158207A>GCA475514831KMT5Bc.1926T>C (p.Ser642=)
n.2491T>C
c.*1763T>C (n.*1763T>C)
c.*1806T>C (n.*1806T>C)
c.1623T>C (p.Ser541=)
c.*1347T>C (n.*1347T>C)
c.2139T>C (p.Ser713=)
c.1419T>C (p.Ser473=)
c.2070T>C (p.Ser690=)
c.897T>C (p.Ser299=)
dbSNP
11g.68158207A>TCA475514830KMT5Bc.1926T>A (p.Ser642=)
n.2491T>A
c.*1763T>A (n.*1763T>A)
c.*1806T>A (n.*1806T>A)
c.1623T>A (p.Ser541=)
c.*1347T>A (n.*1347T>A)
c.2139T>A (p.Ser713=)
c.1419T>A (p.Ser473=)
c.2070T>A (p.Ser690=)
c.897T>A (p.Ser299=)
11g.68158208G>ACA381589574KMT5Bc.1925C>T (p.Ser642Phe)
n.2490C>T
c.*1762C>T (n.*1762C>T)
c.*1805C>T (n.*1805C>T)
c.1622C>T (p.Ser541Phe)
c.*1346C>T (n.*1346C>T)
c.2138C>T (p.Ser713Phe)
c.1418C>T (p.Ser473Phe)
c.2069C>T (p.Ser690Phe)
c.896C>T (p.Ser299Phe)
11g.68158208G>CCA381589576KMT5Bc.1925C>G (p.Ser642Cys)
n.2490C>G
c.*1762C>G (n.*1762C>G)
c.*1805C>G (n.*1805C>G)
c.1622C>G (p.Ser541Cys)
c.*1346C>G (n.*1346C>G)
c.2138C>G (p.Ser713Cys)
c.1418C>G (p.Ser473Cys)
c.2069C>G (p.Ser690Cys)
c.896C>G (p.Ser299Cys)
11g.68158208G>TCA381589578KMT5Bc.1925C>A (p.Ser642Tyr)
n.2490C>A
c.*1762C>A (n.*1762C>A)
c.*1805C>A (n.*1805C>A)
c.1622C>A (p.Ser541Tyr)
c.*1346C>A (n.*1346C>A)
c.2138C>A (p.Ser713Tyr)
c.1418C>A (p.Ser473Tyr)
c.2069C>A (p.Ser690Tyr)
c.896C>A (p.Ser299Tyr)
11g.68158209A>CCA381589581KMT5Bc.1924T>G (p.Ser642Ala)
n.2489T>G
c.*1761T>G (n.*1761T>G)
c.*1804T>G (n.*1804T>G)
c.1621T>G (p.Ser541Ala)
c.*1345T>G (n.*1345T>G)
c.2137T>G (p.Ser713Ala)
c.1417T>G (p.Ser473Ala)
c.2068T>G (p.Ser690Ala)
c.895T>G (p.Ser299Ala)
11g.68158209A>GCA381589584KMT5Bc.1924T>C (p.Ser642Pro)
n.2489T>C
c.*1761T>C (n.*1761T>C)
c.*1804T>C (n.*1804T>C)
c.1621T>C (p.Ser541Pro)
c.*1345T>C (n.*1345T>C)
c.2137T>C (p.Ser713Pro)
c.1417T>C (p.Ser473Pro)
c.2068T>C (p.Ser690Pro)
c.895T>C (p.Ser299Pro)
11g.68158209A>TCA381589587KMT5Bc.1924T>A (p.Ser642Thr)
n.2489T>A
c.*1761T>A (n.*1761T>A)
c.*1804T>A (n.*1804T>A)
c.1621T>A (p.Ser541Thr)
c.*1345T>A (n.*1345T>A)
c.2137T>A (p.Ser713Thr)
c.1417T>A (p.Ser473Thr)
c.2068T>A (p.Ser690Thr)
c.895T>A (p.Ser299Thr)
11g.68158210G>ACA6148051KMT5Bc.1923C>T (p.Asn641=)
n.2488C>T
c.*1760C>T (n.*1760C>T)
c.*1803C>T (n.*1803C>T)
c.1620C>T (p.Asn540=)
c.*1344C>T (n.*1344C>T)
c.2136C>T (p.Asn712=)
c.1416C>T (p.Asn472=)
c.2067C>T (p.Asn689=)
c.894C>T (p.Asn298=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158210G>CCA381589590KMT5Bc.1923C>G (p.Asn641Lys)
n.2488C>G
c.*1760C>G (n.*1760C>G)
c.*1803C>G (n.*1803C>G)
c.1620C>G (p.Asn540Lys)
c.*1344C>G (n.*1344C>G)
c.2136C>G (p.Asn712Lys)
c.1416C>G (p.Asn472Lys)
c.2067C>G (p.Asn689Lys)
c.894C>G (p.Asn298Lys)
gnomAD v4
11g.68158210G=CA1980500703KMT5Bc.1923C= (p.Asn641=)
n.2488C=
c.*1760C= (n.*1760C=)
c.*1803C= (n.*1803C=)
c.1620C= (p.Asn540=)
c.*1344C= (n.*1344C=)
c.2136C= (p.Asn712=)
c.1416C= (p.Asn472=)
c.2067C= (p.Asn689=)
c.894C= (p.Asn298=)
11g.68158210G>TCA381589597KMT5Bc.1923C>A (p.Asn641Lys)
n.2488C>A
c.*1760C>A (n.*1760C>A)
c.*1803C>A (n.*1803C>A)
c.1620C>A (p.Asn540Lys)
c.*1344C>A (n.*1344C>A)
c.2136C>A (p.Asn712Lys)
c.1416C>A (p.Asn472Lys)
c.2067C>A (p.Asn689Lys)
c.894C>A (p.Asn298Lys)
COSMIC COSMIC
11g.68158211T>ACA381589600KMT5Bc.1922A>T (p.Asn641Ile)
n.2487A>T
c.*1759A>T (n.*1759A>T)
c.*1802A>T (n.*1802A>T)
c.1619A>T (p.Asn540Ile)
c.*1343A>T (n.*1343A>T)
c.2135A>T (p.Asn712Ile)
c.1415A>T (p.Asn472Ile)
c.2066A>T (p.Asn689Ile)
c.893A>T (p.Asn298Ile)
11g.68158211T>CCA381589615KMT5Bc.1922A>G (p.Asn641Ser)
n.2487A>G
c.*1759A>G (n.*1759A>G)
c.*1802A>G (n.*1802A>G)
c.1619A>G (p.Asn540Ser)
c.*1343A>G (n.*1343A>G)
c.2135A>G (p.Asn712Ser)
c.1415A>G (p.Asn472Ser)
c.2066A>G (p.Asn689Ser)
c.893A>G (p.Asn298Ser)
11g.68158211T>GCA381589618KMT5Bc.1922A>C (p.Asn641Thr)
n.2487A>C
c.*1759A>C (n.*1759A>C)
c.*1802A>C (n.*1802A>C)
c.1619A>C (p.Asn540Thr)
c.*1343A>C (n.*1343A>C)
c.2135A>C (p.Asn712Thr)
c.1415A>C (p.Asn472Thr)
c.2066A>C (p.Asn689Thr)
c.893A>C (p.Asn298Thr)
11g.68158212T>ACA381589626KMT5Bc.1921A>T (p.Asn641Tyr)
n.2486A>T
c.*1758A>T (n.*1758A>T)
c.*1801A>T (n.*1801A>T)
c.1618A>T (p.Asn540Tyr)
c.*1342A>T (n.*1342A>T)
c.2134A>T (p.Asn712Tyr)
c.1414A>T (p.Asn472Tyr)
c.2065A>T (p.Asn689Tyr)
c.892A>T (p.Asn298Tyr)
11g.68158212T>CCA381589621KMT5Bc.1921A>G (p.Asn641Asp)
n.2486A>G
c.*1758A>G (n.*1758A>G)
c.*1801A>G (n.*1801A>G)
c.1618A>G (p.Asn540Asp)
c.*1342A>G (n.*1342A>G)
c.2134A>G (p.Asn712Asp)
c.1414A>G (p.Asn472Asp)
c.2065A>G (p.Asn689Asp)
c.892A>G (p.Asn298Asp)
11g.68158212T>GCA381589623KMT5Bc.1921A>C (p.Asn641His)
n.2486A>C
c.*1758A>C (n.*1758A>C)
c.*1801A>C (n.*1801A>C)
c.1618A>C (p.Asn540His)
c.*1342A>C (n.*1342A>C)
c.2134A>C (p.Asn712His)
c.1414A>C (p.Asn472His)
c.2065A>C (p.Asn689His)
c.892A>C (p.Asn298His)
11g.68158213A=CA1980500708KMT5Bc.1920T= (p.Asn640=)
n.2485T=
c.*1757T= (n.*1757T=)
c.*1800T= (n.*1800T=)
c.1617T= (p.Asn539=)
c.*1341T= (n.*1341T=)
c.2133T= (p.Asn711=)
c.1413T= (p.Asn471=)
c.2064T= (p.Asn688=)
c.891T= (p.Asn297=)
11g.68158213A>CCA381589628KMT5Bc.1920T>G (p.Asn640Lys)
n.2485T>G
c.*1757T>G (n.*1757T>G)
c.*1800T>G (n.*1800T>G)
c.1617T>G (p.Asn539Lys)
c.*1341T>G (n.*1341T>G)
c.2133T>G (p.Asn711Lys)
c.1413T>G (p.Asn471Lys)
c.2064T>G (p.Asn688Lys)
c.891T>G (p.Asn297Lys)
11g.68158213A>GCA475514836KMT5Bc.1920T>C (p.Asn640=)
n.2485T>C
c.*1757T>C (n.*1757T>C)
c.*1800T>C (n.*1800T>C)
c.1617T>C (p.Asn539=)
c.*1341T>C (n.*1341T>C)
c.2133T>C (p.Asn711=)
c.1413T>C (p.Asn471=)
c.2064T>C (p.Asn688=)
c.891T>C (p.Asn297=)
dbSNP gnomAD v4
11g.68158213A>TCA381589630KMT5Bc.1920T>A (p.Asn640Lys)
n.2485T>A
c.*1757T>A (n.*1757T>A)
c.*1800T>A (n.*1800T>A)
c.1617T>A (p.Asn539Lys)
c.*1341T>A (n.*1341T>A)
c.2133T>A (p.Asn711Lys)
c.1413T>A (p.Asn471Lys)
c.2064T>A (p.Asn688Lys)
c.891T>A (p.Asn297Lys)
11g.68158214T>ACA381589633KMT5Bc.1919A>T (p.Asn640Ile)
n.2484A>T
c.*1756A>T (n.*1756A>T)
c.*1799A>T (n.*1799A>T)
c.1616A>T (p.Asn539Ile)
c.*1340A>T (n.*1340A>T)
c.2132A>T (p.Asn711Ile)
c.1412A>T (p.Asn471Ile)
c.2063A>T (p.Asn688Ile)
c.890A>T (p.Asn297Ile)
11g.68158214T>CCA381589636KMT5Bc.1919A>G (p.Asn640Ser)
n.2484A>G
c.*1756A>G (n.*1756A>G)
c.*1799A>G (n.*1799A>G)
c.1616A>G (p.Asn539Ser)
c.*1340A>G (n.*1340A>G)
c.2132A>G (p.Asn711Ser)
c.1412A>G (p.Asn471Ser)
c.2063A>G (p.Asn688Ser)
c.890A>G (p.Asn297Ser)
dbSNP gnomAD v2 gnomAD v4
11g.68158214T>GCA381589639KMT5Bc.1919A>C (p.Asn640Thr)
n.2484A>C
c.*1756A>C (n.*1756A>C)
c.*1799A>C (n.*1799A>C)
c.1616A>C (p.Asn539Thr)
c.*1340A>C (n.*1340A>C)
c.2132A>C (p.Asn711Thr)
c.1412A>C (p.Asn471Thr)
c.2063A>C (p.Asn688Thr)
c.890A>C (p.Asn297Thr)
11g.68158214T=CA1980500712KMT5Bc.1919A= (p.Asn640=)
n.2484A=
c.*1756A= (n.*1756A=)
c.*1799A= (n.*1799A=)
c.1616A= (p.Asn539=)
c.*1340A= (n.*1340A=)
c.2132A= (p.Asn711=)
c.1412A= (p.Asn471=)
c.2063A= (p.Asn688=)
c.890A= (p.Asn297=)
11g.68158215T>ACA381589644KMT5Bc.1918A>T (p.Asn640Tyr)
n.2483A>T
c.*1755A>T (n.*1755A>T)
c.*1798A>T (n.*1798A>T)
c.1615A>T (p.Asn539Tyr)
c.*1339A>T (n.*1339A>T)
c.2131A>T (p.Asn711Tyr)
c.1411A>T (p.Asn471Tyr)
c.2062A>T (p.Asn688Tyr)
c.889A>T (p.Asn297Tyr)
11g.68158215T>CCA381589645KMT5Bc.1918A>G (p.Asn640Asp)
n.2483A>G
c.*1755A>G (n.*1755A>G)
c.*1798A>G (n.*1798A>G)
c.1615A>G (p.Asn539Asp)
c.*1339A>G (n.*1339A>G)
c.2131A>G (p.Asn711Asp)
c.1411A>G (p.Asn471Asp)
c.2062A>G (p.Asn688Asp)
c.889A>G (p.Asn297Asp)
11g.68158215T>GCA381589648KMT5Bc.1918A>C (p.Asn640His)
n.2483A>C
c.*1755A>C (n.*1755A>C)
c.*1798A>C (n.*1798A>C)
c.1615A>C (p.Asn539His)
c.*1339A>C (n.*1339A>C)
c.2131A>C (p.Asn711His)
c.1411A>C (p.Asn471His)
c.2062A>C (p.Asn688His)
c.889A>C (p.Asn297His)
11g.68158216T>ACA381589650KMT5Bc.1917A>T (p.Glu639Asp)
n.2482A>T
c.*1754A>T (n.*1754A>T)
c.*1797A>T (n.*1797A>T)
c.1614A>T (p.Glu538Asp)
c.*1338A>T (n.*1338A>T)
c.2130A>T (p.Glu710Asp)
c.1410A>T (p.Glu470Asp)
c.2061A>T (p.Glu687Asp)
c.888A>T (p.Glu296Asp)
11g.68158216T>CCA475514839KMT5Bc.1917A>G (p.Glu639=)
n.2482A>G
c.*1754A>G (n.*1754A>G)
c.*1797A>G (n.*1797A>G)
c.1614A>G (p.Glu538=)
c.*1338A>G (n.*1338A>G)
c.2130A>G (p.Glu710=)
c.1410A>G (p.Glu470=)
c.2061A>G (p.Glu687=)
c.888A>G (p.Glu296=)
11g.68158216T>GCA381589652KMT5Bc.1917A>C (p.Glu639Asp)
n.2482A>C
c.*1754A>C (n.*1754A>C)
c.*1797A>C (n.*1797A>C)
c.1614A>C (p.Glu538Asp)
c.*1338A>C (n.*1338A>C)
c.2130A>C (p.Glu710Asp)
c.1410A>C (p.Glu470Asp)
c.2061A>C (p.Glu687Asp)
c.888A>C (p.Glu296Asp)
11g.68158217T>ACA381589659KMT5Bc.1916A>T (p.Glu639Val)
n.2481A>T
c.*1753A>T (n.*1753A>T)
c.*1796A>T (n.*1796A>T)
c.1613A>T (p.Glu538Val)
c.*1337A>T (n.*1337A>T)
c.2129A>T (p.Glu710Val)
c.1409A>T (p.Glu470Val)
c.2060A>T (p.Glu687Val)
c.887A>T (p.Glu296Val)
11g.68158217T>CCA381589658KMT5Bc.1916A>G (p.Glu639Gly)
n.2481A>G
c.*1753A>G (n.*1753A>G)
c.*1796A>G (n.*1796A>G)
c.1613A>G (p.Glu538Gly)
c.*1337A>G (n.*1337A>G)
c.2129A>G (p.Glu710Gly)
c.1409A>G (p.Glu470Gly)
c.2060A>G (p.Glu687Gly)
c.887A>G (p.Glu296Gly)
gnomAD v4
11g.68158217T>GCA381589655KMT5Bc.1916A>C (p.Glu639Ala)
n.2481A>C
c.*1753A>C (n.*1753A>C)
c.*1796A>C (n.*1796A>C)
c.1613A>C (p.Glu538Ala)
c.*1337A>C (n.*1337A>C)
c.2129A>C (p.Glu710Ala)
c.1409A>C (p.Glu470Ala)
c.2060A>C (p.Glu687Ala)
c.887A>C (p.Glu296Ala)
11g.68158218C>ACA381589663KMT5Bc.1915G>T (p.Glu639Ter)
n.2480G>T
c.*1752G>T (n.*1752G>T)
c.*1795G>T (n.*1795G>T)
c.1612G>T (p.Glu538Ter)
c.*1336G>T (n.*1336G>T)
c.2128G>T (p.Glu710Ter)
c.1408G>T (p.Glu470Ter)
c.2059G>T (p.Glu687Ter)
c.886G>T (p.Glu296Ter)
11g.68158218C>GCA381589665KMT5Bc.1915G>C (p.Glu639Gln)
n.2480G>C
c.*1752G>C (n.*1752G>C)
c.*1795G>C (n.*1795G>C)
c.1612G>C (p.Glu538Gln)
c.*1336G>C (n.*1336G>C)
c.2128G>C (p.Glu710Gln)
c.1408G>C (p.Glu470Gln)
c.2059G>C (p.Glu687Gln)
c.886G>C (p.Glu296Gln)
11g.68158218C>TCA381589669KMT5Bc.1915G>A (p.Glu639Lys)
n.2480G>A
c.*1752G>A (n.*1752G>A)
c.*1795G>A (n.*1795G>A)
c.1612G>A (p.Glu538Lys)
c.*1336G>A (n.*1336G>A)
c.2128G>A (p.Glu710Lys)
c.1408G>A (p.Glu470Lys)
c.2059G>A (p.Glu687Lys)
c.886G>A (p.Glu296Lys)
11g.68158219T>ACA475514840KMT5Bc.1914A>T (p.Leu638=)
n.2479A>T
c.*1751A>T (n.*1751A>T)
c.*1794A>T (n.*1794A>T)
c.1611A>T (p.Leu537=)
c.*1335A>T (n.*1335A>T)
c.2127A>T (p.Leu709=)
c.1407A>T (p.Leu469=)
c.2058A>T (p.Leu686=)
c.885A>T (p.Leu295=)
11g.68158219T>CCA475514841KMT5Bc.1914A>G (p.Leu638=)
n.2479A>G
c.*1751A>G (n.*1751A>G)
c.*1794A>G (n.*1794A>G)
c.1611A>G (p.Leu537=)
c.*1335A>G (n.*1335A>G)
c.2127A>G (p.Leu709=)
c.1407A>G (p.Leu469=)
c.2058A>G (p.Leu686=)
c.885A>G (p.Leu295=)
11g.68158219T>GCA475514842KMT5Bc.1914A>C (p.Leu638=)
n.2479A>C
c.*1751A>C (n.*1751A>C)
c.*1794A>C (n.*1794A>C)
c.1611A>C (p.Leu537=)
c.*1335A>C (n.*1335A>C)
c.2127A>C (p.Leu709=)
c.1407A>C (p.Leu469=)
c.2058A>C (p.Leu686=)
c.885A>C (p.Leu295=)
11g.68158220A>CCA381589673KMT5Bc.1913T>G (p.Leu638Arg)
n.2478T>G
c.*1750T>G (n.*1750T>G)
c.*1793T>G (n.*1793T>G)
c.1610T>G (p.Leu537Arg)
c.*1334T>G (n.*1334T>G)
c.2126T>G (p.Leu709Arg)
c.1406T>G (p.Leu469Arg)
c.2057T>G (p.Leu686Arg)
c.884T>G (p.Leu295Arg)
11g.68158220A>GCA381589675KMT5Bc.1913T>C (p.Leu638Pro)
n.2478T>C
c.*1750T>C (n.*1750T>C)
c.*1793T>C (n.*1793T>C)
c.1610T>C (p.Leu537Pro)
c.*1334T>C (n.*1334T>C)
c.2126T>C (p.Leu709Pro)
c.1406T>C (p.Leu469Pro)
c.2057T>C (p.Leu686Pro)
c.884T>C (p.Leu295Pro)
11g.68158220A>TCA381589676KMT5Bc.1913T>A (p.Leu638Gln)
n.2478T>A
c.*1750T>A (n.*1750T>A)
c.*1793T>A (n.*1793T>A)
c.1610T>A (p.Leu537Gln)
c.*1334T>A (n.*1334T>A)
c.2126T>A (p.Leu709Gln)
c.1406T>A (p.Leu469Gln)
c.2057T>A (p.Leu686Gln)
c.884T>A (p.Leu295Gln)
11g.68158221G>ACA475514844KMT5Bc.1912C>T (p.Leu638=)
n.2477C>T
c.*1749C>T (n.*1749C>T)
c.*1792C>T (n.*1792C>T)
c.1609C>T (p.Leu537=)
c.*1333C>T (n.*1333C>T)
c.2125C>T (p.Leu709=)
c.1405C>T (p.Leu469=)
c.2056C>T (p.Leu686=)
c.883C>T (p.Leu295=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158221G>CCA381589680KMT5Bc.1912C>G (p.Leu638Val)
n.2477C>G
c.*1749C>G (n.*1749C>G)
c.*1792C>G (n.*1792C>G)
c.1609C>G (p.Leu537Val)
c.*1333C>G (n.*1333C>G)
c.2125C>G (p.Leu709Val)
c.1405C>G (p.Leu469Val)
c.2056C>G (p.Leu686Val)
c.883C>G (p.Leu295Val)
11g.68158221G=CA1980500729KMT5Bc.1912C= (p.Leu638=)
n.2477C=
c.*1749C= (n.*1749C=)
c.*1792C= (n.*1792C=)
c.1609C= (p.Leu537=)
c.*1333C= (n.*1333C=)
c.2125C= (p.Leu709=)
c.1405C= (p.Leu469=)
c.2056C= (p.Leu686=)
c.883C= (p.Leu295=)
11g.68158221G>TCA381589681KMT5Bc.1912C>A (p.Leu638Ile)
n.2477C>A
c.*1749C>A (n.*1749C>A)
c.*1792C>A (n.*1792C>A)
c.1609C>A (p.Leu537Ile)
c.*1333C>A (n.*1333C>A)
c.2125C>A (p.Leu709Ile)
c.1405C>A (p.Leu469Ile)
c.2056C>A (p.Leu686Ile)
c.883C>A (p.Leu295Ile)
COSMIC COSMIC
11g.68158222G>ACA475514847KMT5Bc.1911C>T (p.Ile637=)
n.2476C>T
c.*1748C>T (n.*1748C>T)
c.*1791C>T (n.*1791C>T)
c.1608C>T (p.Ile536=)
c.*1332C>T (n.*1332C>T)
c.2124C>T (p.Ile708=)
c.1404C>T (p.Ile468=)
c.2055C>T (p.Ile685=)
c.882C>T (p.Ile294=)
gnomAD v4
11g.68158222G>CCA381589686KMT5Bc.1911C>G (p.Ile637Met)
n.2476C>G
c.*1748C>G (n.*1748C>G)
c.*1791C>G (n.*1791C>G)
c.1608C>G (p.Ile536Met)
c.*1332C>G (n.*1332C>G)
c.2124C>G (p.Ile708Met)
c.1404C>G (p.Ile468Met)
c.2055C>G (p.Ile685Met)
c.882C>G (p.Ile294Met)
gnomAD v4
11g.68158222G>TCA475514848KMT5Bc.1911C>A (p.Ile637=)
n.2476C>A
c.*1748C>A (n.*1748C>A)
c.*1791C>A (n.*1791C>A)
c.1608C>A (p.Ile536=)
c.*1332C>A (n.*1332C>A)
c.2124C>A (p.Ile708=)
c.1404C>A (p.Ile468=)
c.2055C>A (p.Ile685=)
c.882C>A (p.Ile294=)
11g.68158223A>CCA381589691KMT5Bc.1910T>G (p.Ile637Ser)
n.2475T>G
c.*1747T>G (n.*1747T>G)
c.*1790T>G (n.*1790T>G)
c.1607T>G (p.Ile536Ser)
c.*1331T>G (n.*1331T>G)
c.2123T>G (p.Ile708Ser)
c.1403T>G (p.Ile468Ser)
c.2054T>G (p.Ile685Ser)
c.881T>G (p.Ile294Ser)
11g.68158223A>GCA381589693KMT5Bc.1910T>C (p.Ile637Thr)
n.2475T>C
c.*1747T>C (n.*1747T>C)
c.*1790T>C (n.*1790T>C)
c.1607T>C (p.Ile536Thr)
c.*1331T>C (n.*1331T>C)
c.2123T>C (p.Ile708Thr)
c.1403T>C (p.Ile468Thr)
c.2054T>C (p.Ile685Thr)
c.881T>C (p.Ile294Thr)
11g.68158223A>TCA381589696KMT5Bc.1910T>A (p.Ile637Asn)
n.2475T>A
c.*1747T>A (n.*1747T>A)
c.*1790T>A (n.*1790T>A)
c.1607T>A (p.Ile536Asn)
c.*1331T>A (n.*1331T>A)
c.2123T>A (p.Ile708Asn)
c.1403T>A (p.Ile468Asn)
c.2054T>A (p.Ile685Asn)
c.881T>A (p.Ile294Asn)
11g.68158224T>ACA381589707KMT5Bc.1909A>T (p.Ile637Phe)
n.2474A>T
c.*1746A>T (n.*1746A>T)
c.*1789A>T (n.*1789A>T)
c.1606A>T (p.Ile536Phe)
c.*1330A>T (n.*1330A>T)
c.2122A>T (p.Ile708Phe)
c.1402A>T (p.Ile468Phe)
c.2053A>T (p.Ile685Phe)
c.880A>T (p.Ile294Phe)
11g.68158224T>CCA381589703KMT5Bc.1909A>G (p.Ile637Val)
n.2474A>G
c.*1746A>G (n.*1746A>G)
c.*1789A>G (n.*1789A>G)
c.1606A>G (p.Ile536Val)
c.*1330A>G (n.*1330A>G)
c.2122A>G (p.Ile708Val)
c.1402A>G (p.Ile468Val)
c.2053A>G (p.Ile685Val)
c.880A>G (p.Ile294Val)
11g.68158224T>GCA381589699KMT5Bc.1909A>C (p.Ile637Leu)
n.2474A>C
c.*1746A>C (n.*1746A>C)
c.*1789A>C (n.*1789A>C)
c.1606A>C (p.Ile536Leu)
c.*1330A>C (n.*1330A>C)
c.2122A>C (p.Ile708Leu)
c.1402A>C (p.Ile468Leu)
c.2053A>C (p.Ile685Leu)
c.880A>C (p.Ile294Leu)
11g.68158225T>ACA381589709KMT5Bc.1908A>T (p.Leu636Phe)
n.2473A>T
c.*1745A>T (n.*1745A>T)
c.*1788A>T (n.*1788A>T)
c.1605A>T (p.Leu535Phe)
c.*1329A>T (n.*1329A>T)
c.2121A>T (p.Leu707Phe)
c.1401A>T (p.Leu467Phe)
c.2052A>T (p.Leu684Phe)
c.879A>T (p.Leu293Phe)
COSMIC COSMIC
11g.68158225T>CCA475514852KMT5Bc.1908A>G (p.Leu636=)
n.2473A>G
c.*1745A>G (n.*1745A>G)
c.*1788A>G (n.*1788A>G)
c.1605A>G (p.Leu535=)
c.*1329A>G (n.*1329A>G)
c.2121A>G (p.Leu707=)
c.1401A>G (p.Leu467=)
c.2052A>G (p.Leu684=)
c.879A>G (p.Leu293=)
11g.68158225T>GCA381589712KMT5Bc.1908A>C (p.Leu636Phe)
n.2473A>C
c.*1745A>C (n.*1745A>C)
c.*1788A>C (n.*1788A>C)
c.1605A>C (p.Leu535Phe)
c.*1329A>C (n.*1329A>C)
c.2121A>C (p.Leu707Phe)
c.1401A>C (p.Leu467Phe)
c.2052A>C (p.Leu684Phe)
c.879A>C (p.Leu293Phe)
11g.68158226A>CCA381589717KMT5Bc.1907T>G (p.Leu636Ter)
n.2472T>G
c.*1744T>G (n.*1744T>G)
c.*1787T>G (n.*1787T>G)
c.1604T>G (p.Leu535Ter)
c.*1328T>G (n.*1328T>G)
c.2120T>G (p.Leu707Ter)
c.1400T>G (p.Leu467Ter)
c.2051T>G (p.Leu684Ter)
c.878T>G (p.Leu293Ter)
11g.68158226A>GCA381589719KMT5Bc.1907T>C (p.Leu636Ser)
n.2472T>C
c.*1744T>C (n.*1744T>C)
c.*1787T>C (n.*1787T>C)
c.1604T>C (p.Leu535Ser)
c.*1328T>C (n.*1328T>C)
c.2120T>C (p.Leu707Ser)
c.1400T>C (p.Leu467Ser)
c.2051T>C (p.Leu684Ser)
c.878T>C (p.Leu293Ser)
11g.68158226A>TCA381589726KMT5Bc.1907T>A (p.Leu636Ter)
n.2472T>A
c.*1744T>A (n.*1744T>A)
c.*1787T>A (n.*1787T>A)
c.1604T>A (p.Leu535Ter)
c.*1328T>A (n.*1328T>A)
c.2120T>A (p.Leu707Ter)
c.1400T>A (p.Leu467Ter)
c.2051T>A (p.Leu684Ter)
c.878T>A (p.Leu293Ter)
11g.68158227A>CCA381589729KMT5Bc.1906T>G (p.Leu636Val)
n.2471T>G
c.*1743T>G (n.*1743T>G)
c.*1786T>G (n.*1786T>G)
c.1603T>G (p.Leu535Val)
c.*1327T>G (n.*1327T>G)
c.2119T>G (p.Leu707Val)
c.1399T>G (p.Leu467Val)
c.2050T>G (p.Leu684Val)
c.877T>G (p.Leu293Val)
11g.68158227A>GCA475514853KMT5Bc.1906T>C (p.Leu636=)
n.2471T>C
c.*1743T>C (n.*1743T>C)
c.*1786T>C (n.*1786T>C)
c.1603T>C (p.Leu535=)
c.*1327T>C (n.*1327T>C)
c.2119T>C (p.Leu707=)
c.1399T>C (p.Leu467=)
c.2050T>C (p.Leu684=)
c.877T>C (p.Leu293=)
11g.68158227A>TCA381589731KMT5Bc.1906T>A (p.Leu636Ile)
n.2471T>A
c.*1743T>A (n.*1743T>A)
c.*1786T>A (n.*1786T>A)
c.1603T>A (p.Leu535Ile)
c.*1327T>A (n.*1327T>A)
c.2119T>A (p.Leu707Ile)
c.1399T>A (p.Leu467Ile)
c.2050T>A (p.Leu684Ile)
c.877T>A (p.Leu293Ile)
11g.68158228C>ACA381589735KMT5Bc.1905G>T (p.Gln635His)
n.2470G>T
c.*1742G>T (n.*1742G>T)
c.*1785G>T (n.*1785G>T)
c.1602G>T (p.Gln534His)
c.*1326G>T (n.*1326G>T)
c.2118G>T (p.Gln706His)
c.1398G>T (p.Gln466His)
c.2049G>T (p.Gln683His)
c.876G>T (p.Gln292His)
11g.68158228C>GCA381589736KMT5Bc.1905G>C (p.Gln635His)
n.2470G>C
c.*1742G>C (n.*1742G>C)
c.*1785G>C (n.*1785G>C)
c.1602G>C (p.Gln534His)
c.*1326G>C (n.*1326G>C)
c.2118G>C (p.Gln706His)
c.1398G>C (p.Gln466His)
c.2049G>C (p.Gln683His)
c.876G>C (p.Gln292His)
11g.68158228C>TCA475514854KMT5Bc.1905G>A (p.Gln635=)
n.2470G>A
c.*1742G>A (n.*1742G>A)
c.*1785G>A (n.*1785G>A)
c.1602G>A (p.Gln534=)
c.*1326G>A (n.*1326G>A)
c.2118G>A (p.Gln706=)
c.1398G>A (p.Gln466=)
c.2049G>A (p.Gln683=)
c.876G>A (p.Gln292=)
11g.68158229T>ACA381589741KMT5Bc.1904A>T (p.Gln635Leu)
n.2469A>T
c.*1741A>T (n.*1741A>T)
c.*1784A>T (n.*1784A>T)
c.1601A>T (p.Gln534Leu)
c.*1325A>T (n.*1325A>T)
c.2117A>T (p.Gln706Leu)
c.1397A>T (p.Gln466Leu)
c.2048A>T (p.Gln683Leu)
c.875A>T (p.Gln292Leu)
11g.68158229T>CCA381589747KMT5Bc.1904A>G (p.Gln635Arg)
n.2469A>G
c.*1741A>G (n.*1741A>G)
c.*1784A>G (n.*1784A>G)
c.1601A>G (p.Gln534Arg)
c.*1325A>G (n.*1325A>G)
c.2117A>G (p.Gln706Arg)
c.1397A>G (p.Gln466Arg)
c.2048A>G (p.Gln683Arg)
c.875A>G (p.Gln292Arg)
11g.68158229T>GCA381589767KMT5Bc.1904A>C (p.Gln635Pro)
n.2469A>C
c.*1741A>C (n.*1741A>C)
c.*1784A>C (n.*1784A>C)
c.1601A>C (p.Gln534Pro)
c.*1325A>C (n.*1325A>C)
c.2117A>C (p.Gln706Pro)
c.1397A>C (p.Gln466Pro)
c.2048A>C (p.Gln683Pro)
c.875A>C (p.Gln292Pro)
11g.68158230G>ACA381589779KMT5Bc.1903C>T (p.Gln635Ter)
n.2468C>T
c.*1740C>T (n.*1740C>T)
c.*1783C>T (n.*1783C>T)
c.1600C>T (p.Gln534Ter)
c.*1324C>T (n.*1324C>T)
c.2116C>T (p.Gln706Ter)
c.1396C>T (p.Gln466Ter)
c.2047C>T (p.Gln683Ter)
c.874C>T (p.Gln292Ter)
11g.68158230G>CCA381589776KMT5Bc.1903C>G (p.Gln635Glu)
n.2468C>G
c.*1740C>G (n.*1740C>G)
c.*1783C>G (n.*1783C>G)
c.1600C>G (p.Gln534Glu)
c.*1324C>G (n.*1324C>G)
c.2116C>G (p.Gln706Glu)
c.1396C>G (p.Gln466Glu)
c.2047C>G (p.Gln683Glu)
c.874C>G (p.Gln292Glu)
11g.68158230G>TCA381589772KMT5Bc.1903C>A (p.Gln635Lys)
n.2468C>A
c.*1740C>A (n.*1740C>A)
c.*1783C>A (n.*1783C>A)
c.1600C>A (p.Gln534Lys)
c.*1324C>A (n.*1324C>A)
c.2116C>A (p.Gln706Lys)
c.1396C>A (p.Gln466Lys)
c.2047C>A (p.Gln683Lys)
c.874C>A (p.Gln292Lys)
11g.68158231T>ACA475514858KMT5Bc.1902A>T (p.Ala634=)
n.2467A>T
c.*1739A>T (n.*1739A>T)
c.*1782A>T (n.*1782A>T)
c.1599A>T (p.Ala533=)
c.*1323A>T (n.*1323A>T)
c.2115A>T (p.Ala705=)
c.1395A>T (p.Ala465=)
c.2046A>T (p.Ala682=)
c.873A>T (p.Ala291=)
11g.68158231T>CCA475514856KMT5Bc.1902A>G (p.Ala634=)
n.2467A>G
c.*1739A>G (n.*1739A>G)
c.*1782A>G (n.*1782A>G)
c.1599A>G (p.Ala533=)
c.*1323A>G (n.*1323A>G)
c.2115A>G (p.Ala705=)
c.1395A>G (p.Ala465=)
c.2046A>G (p.Ala682=)
c.873A>G (p.Ala291=)
gnomAD v4
11g.68158231T>GCA475514855KMT5Bc.1902A>C (p.Ala634=)
n.2467A>C
c.*1739A>C (n.*1739A>C)
c.*1782A>C (n.*1782A>C)
c.1599A>C (p.Ala533=)
c.*1323A>C (n.*1323A>C)
c.2115A>C (p.Ala705=)
c.1395A>C (p.Ala465=)
c.2046A>C (p.Ala682=)
c.873A>C (p.Ala291=)
11g.68158232G>ACA381589783KMT5Bc.1901C>T (p.Ala634Val)
n.2466C>T
c.*1738C>T (n.*1738C>T)
c.*1781C>T (n.*1781C>T)
c.1598C>T (p.Ala533Val)
c.*1322C>T (n.*1322C>T)
c.2114C>T (p.Ala705Val)
c.1394C>T (p.Ala465Val)
c.2045C>T (p.Ala682Val)
c.872C>T (p.Ala291Val)
dbSNP
11g.68158232G>CCA381589787KMT5Bc.1901C>G (p.Ala634Gly)
n.2466C>G
c.*1738C>G (n.*1738C>G)
c.*1781C>G (n.*1781C>G)
c.1598C>G (p.Ala533Gly)
c.*1322C>G (n.*1322C>G)
c.2114C>G (p.Ala705Gly)
c.1394C>G (p.Ala465Gly)
c.2045C>G (p.Ala682Gly)
c.872C>G (p.Ala291Gly)
11g.68158232G=CA1980500734KMT5Bc.1901C= (p.Ala634=)
n.2466C=
c.*1738C= (n.*1738C=)
c.*1781C= (n.*1781C=)
c.1598C= (p.Ala533=)
c.*1322C= (n.*1322C=)
c.2114C= (p.Ala705=)
c.1394C= (p.Ala465=)
c.2045C= (p.Ala682=)
c.872C= (p.Ala291=)
11g.68158232G>TCA381589785KMT5Bc.1901C>A (p.Ala634Glu)
n.2466C>A
c.*1738C>A (n.*1738C>A)
c.*1781C>A (n.*1781C>A)
c.1598C>A (p.Ala533Glu)
c.*1322C>A (n.*1322C>A)
c.2114C>A (p.Ala705Glu)
c.1394C>A (p.Ala465Glu)
c.2045C>A (p.Ala682Glu)
c.872C>A (p.Ala291Glu)
11g.68158233C>ACA381589804KMT5Bc.1900G>T (p.Ala634Ser)
n.2465G>T
c.*1737G>T (n.*1737G>T)
c.*1780G>T (n.*1780G>T)
c.1597G>T (p.Ala533Ser)
c.*1321G>T (n.*1321G>T)
c.2113G>T (p.Ala705Ser)
c.1393G>T (p.Ala465Ser)
c.2044G>T (p.Ala682Ser)
c.871G>T (p.Ala291Ser)
11g.68158233C>GCA381589805KMT5Bc.1900G>C (p.Ala634Pro)
n.2465G>C
c.*1737G>C (n.*1737G>C)
c.*1780G>C (n.*1780G>C)
c.1597G>C (p.Ala533Pro)
c.*1321G>C (n.*1321G>C)
c.2113G>C (p.Ala705Pro)
c.1393G>C (p.Ala465Pro)
c.2044G>C (p.Ala682Pro)
c.871G>C (p.Ala291Pro)
11g.68158233C>TCA381589808KMT5Bc.1900G>A (p.Ala634Thr)
n.2465G>A
c.*1737G>A (n.*1737G>A)
c.*1780G>A (n.*1780G>A)
c.1597G>A (p.Ala533Thr)
c.*1321G>A (n.*1321G>A)
c.2113G>A (p.Ala705Thr)
c.1393G>A (p.Ala465Thr)
c.2044G>A (p.Ala682Thr)
c.871G>A (p.Ala291Thr)
11g.68158234A>CCA381589811KMT5Bc.1899T>G (p.Asp633Glu)
n.2464T>G
c.*1736T>G (n.*1736T>G)
c.*1779T>G (n.*1779T>G)
c.1596T>G (p.Asp532Glu)
c.*1320T>G (n.*1320T>G)
c.2112T>G (p.Asp704Glu)
c.1392T>G (p.Asp464Glu)
c.2043T>G (p.Asp681Glu)
c.870T>G (p.Asp290Glu)
11g.68158234A>GCA475514860KMT5Bc.1899T>C (p.Asp633=)
n.2464T>C
c.*1736T>C (n.*1736T>C)
c.*1779T>C (n.*1779T>C)
c.1596T>C (p.Asp532=)
c.*1320T>C (n.*1320T>C)
c.2112T>C (p.Asp704=)
c.1392T>C (p.Asp464=)
c.2043T>C (p.Asp681=)
c.870T>C (p.Asp290=)
dbSNP
11g.68158234A>TCA381589815KMT5Bc.1899T>A (p.Asp633Glu)
n.2464T>A
c.*1736T>A (n.*1736T>A)
c.*1779T>A (n.*1779T>A)
c.1596T>A (p.Asp532Glu)
c.*1320T>A (n.*1320T>A)
c.2112T>A (p.Asp704Glu)
c.1392T>A (p.Asp464Glu)
c.2043T>A (p.Asp681Glu)
c.870T>A (p.Asp290Glu)
11g.68158235T>ACA381589826KMT5Bc.1898A>T (p.Asp633Val)
n.2463A>T
c.*1735A>T (n.*1735A>T)
c.*1778A>T (n.*1778A>T)
c.1595A>T (p.Asp532Val)
c.*1319A>T (n.*1319A>T)
c.2111A>T (p.Asp704Val)
c.1391A>T (p.Asp464Val)
c.2042A>T (p.Asp681Val)
c.869A>T (p.Asp290Val)
11g.68158235T>CCA381589830KMT5Bc.1898A>G (p.Asp633Gly)
n.2463A>G
c.*1735A>G (n.*1735A>G)
c.*1778A>G (n.*1778A>G)
c.1595A>G (p.Asp532Gly)
c.*1319A>G (n.*1319A>G)
c.2111A>G (p.Asp704Gly)
c.1391A>G (p.Asp464Gly)
c.2042A>G (p.Asp681Gly)
c.869A>G (p.Asp290Gly)
11g.68158235T>GCA381589831KMT5Bc.1898A>C (p.Asp633Ala)
n.2463A>C
c.*1735A>C (n.*1735A>C)
c.*1778A>C (n.*1778A>C)
c.1595A>C (p.Asp532Ala)
c.*1319A>C (n.*1319A>C)
c.2111A>C (p.Asp704Ala)
c.1391A>C (p.Asp464Ala)
c.2042A>C (p.Asp681Ala)
c.869A>C (p.Asp290Ala)
11g.68158236C>ACA381589832KMT5Bc.1897G>T (p.Asp633Tyr)
n.2462G>T
c.*1734G>T (n.*1734G>T)
c.*1777G>T (n.*1777G>T)
c.1594G>T (p.Asp532Tyr)
c.*1318G>T (n.*1318G>T)
c.2110G>T (p.Asp704Tyr)
c.1390G>T (p.Asp464Tyr)
c.2041G>T (p.Asp681Tyr)
c.868G>T (p.Asp290Tyr)
11g.68158236C>GCA381589833KMT5Bc.1897G>C (p.Asp633His)
n.2462G>C
c.*1734G>C (n.*1734G>C)
c.*1777G>C (n.*1777G>C)
c.1594G>C (p.Asp532His)
c.*1318G>C (n.*1318G>C)
c.2110G>C (p.Asp704His)
c.1390G>C (p.Asp464His)
c.2041G>C (p.Asp681His)
c.868G>C (p.Asp290His)
11g.68158236C>TCA381589834KMT5Bc.1897G>A (p.Asp633Asn)
n.2462G>A
c.*1734G>A (n.*1734G>A)
c.*1777G>A (n.*1777G>A)
c.1594G>A (p.Asp532Asn)
c.*1318G>A (n.*1318G>A)
c.2110G>A (p.Asp704Asn)
c.1390G>A (p.Asp464Asn)
c.2041G>A (p.Asp681Asn)
c.868G>A (p.Asp290Asn)

Number of alleles fetched