Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68157966C>ACA381587567KMT5Bc.2167G>T (p.Gly723Trp)
n.2732G>T
c.*2004G>T (n.*2004G>T)
c.*2047G>T (n.*2047G>T)
c.1864G>T (p.Gly622Trp)
c.*1588G>T (n.*1588G>T)
c.2380G>T (p.Gly794Trp)
c.1660G>T (p.Gly554Trp)
c.2311G>T (p.Gly771Trp)
c.1138G>T (p.Gly380Trp)
11g.68157966C=CA1980500328KMT5Bc.2167G= (p.Gly723=)
n.2732G=
c.*2004G= (n.*2004G=)
c.*2047G= (n.*2047G=)
c.1864G= (p.Gly622=)
c.*1588G= (n.*1588G=)
c.2380G= (p.Gly794=)
c.1660G= (p.Gly554=)
c.2311G= (p.Gly771=)
c.1138G= (p.Gly380=)
11g.68157966C>GCA381587580KMT5Bc.2167G>C (p.Gly723Arg)
n.2732G>C
c.*2004G>C (n.*2004G>C)
c.*2047G>C (n.*2047G>C)
c.1864G>C (p.Gly622Arg)
c.*1588G>C (n.*1588G>C)
c.2380G>C (p.Gly794Arg)
c.1660G>C (p.Gly554Arg)
c.2311G>C (p.Gly771Arg)
c.1138G>C (p.Gly380Arg)
11g.68157966C>TCA381587582KMT5Bc.2167G>A (p.Gly723Arg)
n.2732G>A
c.*2004G>A (n.*2004G>A)
c.*2047G>A (n.*2047G>A)
c.1864G>A (p.Gly622Arg)
c.*1588G>A (n.*1588G>A)
c.2380G>A (p.Gly794Arg)
c.1660G>A (p.Gly554Arg)
c.2311G>A (p.Gly771Arg)
c.1138G>A (p.Gly380Arg)
dbSNP gnomAD v3 gnomAD v4
11g.68157967C>ACA381587584KMT5Bc.2166G>T (p.Glu722Asp)
n.2731G>T
c.*2003G>T (n.*2003G>T)
c.*2046G>T (n.*2046G>T)
c.1863G>T (p.Glu621Asp)
c.*1587G>T (n.*1587G>T)
c.2379G>T (p.Glu793Asp)
c.1659G>T (p.Glu553Asp)
c.2310G>T (p.Glu770Asp)
c.1137G>T (p.Glu379Asp)
11g.68157967C>GCA381587586KMT5Bc.2166G>C (p.Glu722Asp)
n.2731G>C
c.*2003G>C (n.*2003G>C)
c.*2046G>C (n.*2046G>C)
c.1863G>C (p.Glu621Asp)
c.*1587G>C (n.*1587G>C)
c.2379G>C (p.Glu793Asp)
c.1659G>C (p.Glu553Asp)
c.2310G>C (p.Glu770Asp)
c.1137G>C (p.Glu379Asp)
11g.68157967C>TCA475514733KMT5Bc.2166G>A (p.Glu722=)
n.2731G>A
c.*2003G>A (n.*2003G>A)
c.*2046G>A (n.*2046G>A)
c.1863G>A (p.Glu621=)
c.*1587G>A (n.*1587G>A)
c.2379G>A (p.Glu793=)
c.1659G>A (p.Glu553=)
c.2310G>A (p.Glu770=)
c.1137G>A (p.Glu379=)
11g.68157968T>ACA381587590KMT5Bc.2165A>T (p.Glu722Val)
n.2730A>T
c.*2002A>T (n.*2002A>T)
c.*2045A>T (n.*2045A>T)
c.1862A>T (p.Glu621Val)
c.*1586A>T (n.*1586A>T)
c.2378A>T (p.Glu793Val)
c.1658A>T (p.Glu553Val)
c.2309A>T (p.Glu770Val)
c.1136A>T (p.Glu379Val)
11g.68157968T>CCA381587594KMT5Bc.2165A>G (p.Glu722Gly)
n.2730A>G
c.*2002A>G (n.*2002A>G)
c.*2045A>G (n.*2045A>G)
c.1862A>G (p.Glu621Gly)
c.*1586A>G (n.*1586A>G)
c.2378A>G (p.Glu793Gly)
c.1658A>G (p.Glu553Gly)
c.2309A>G (p.Glu770Gly)
c.1136A>G (p.Glu379Gly)
11g.68157968T>GCA381587597KMT5Bc.2165A>C (p.Glu722Ala)
n.2730A>C
c.*2002A>C (n.*2002A>C)
c.*2045A>C (n.*2045A>C)
c.1862A>C (p.Glu621Ala)
c.*1586A>C (n.*1586A>C)
c.2378A>C (p.Glu793Ala)
c.1658A>C (p.Glu553Ala)
c.2309A>C (p.Glu770Ala)
c.1136A>C (p.Glu379Ala)
11g.68157969C>ACA381587600KMT5Bc.2164G>T (p.Glu722Ter)
n.2729G>T
c.*2001G>T (n.*2001G>T)
c.*2044G>T (n.*2044G>T)
c.1861G>T (p.Glu621Ter)
c.*1585G>T (n.*1585G>T)
c.2377G>T (p.Glu793Ter)
c.1657G>T (p.Glu553Ter)
c.2308G>T (p.Glu770Ter)
c.1135G>T (p.Glu379Ter)
11g.68157969C=CA1980500343KMT5Bc.2164G= (p.Glu722=)
n.2729G=
c.*2001G= (n.*2001G=)
c.*2044G= (n.*2044G=)
c.1861G= (p.Glu621=)
c.*1585G= (n.*1585G=)
c.2377G= (p.Glu793=)
c.1657G= (p.Glu553=)
c.2308G= (p.Glu770=)
c.1135G= (p.Glu379=)
11g.68157969C>GCA381587606KMT5Bc.2164G>C (p.Glu722Gln)
n.2729G>C
c.*2001G>C (n.*2001G>C)
c.*2044G>C (n.*2044G>C)
c.1861G>C (p.Glu621Gln)
c.*1585G>C (n.*1585G>C)
c.2377G>C (p.Glu793Gln)
c.1657G>C (p.Glu553Gln)
c.2308G>C (p.Glu770Gln)
c.1135G>C (p.Glu379Gln)
dbSNP gnomAD v2 gnomAD v4
11g.68157969C>TCA381587603KMT5Bc.2164G>A (p.Glu722Lys)
n.2729G>A
c.*2001G>A (n.*2001G>A)
c.*2044G>A (n.*2044G>A)
c.1861G>A (p.Glu621Lys)
c.*1585G>A (n.*1585G>A)
c.2377G>A (p.Glu793Lys)
c.1657G>A (p.Glu553Lys)
c.2308G>A (p.Glu770Lys)
c.1135G>A (p.Glu379Lys)
11g.68157970T>ACA475514734KMT5Bc.2163A>T (p.Thr721=)
n.2728A>T
c.*2000A>T (n.*2000A>T)
c.*2043A>T (n.*2043A>T)
c.1860A>T (p.Thr620=)
c.*1584A>T (n.*1584A>T)
c.2376A>T (p.Thr792=)
c.1656A>T (p.Thr552=)
c.2307A>T (p.Thr769=)
c.1134A>T (p.Thr378=)
11g.68157970T>CCA6148018KMT5Bc.2163A>G (p.Thr721=)
n.2728A>G
c.*2000A>G (n.*2000A>G)
c.*2043A>G (n.*2043A>G)
c.1860A>G (p.Thr620=)
c.*1584A>G (n.*1584A>G)
c.2376A>G (p.Thr792=)
c.1656A>G (p.Thr552=)
c.2307A>G (p.Thr769=)
c.1134A>G (p.Thr378=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157970T>GCA475514735KMT5Bc.2163A>C (p.Thr721=)
n.2728A>C
c.*2000A>C (n.*2000A>C)
c.*2043A>C (n.*2043A>C)
c.1860A>C (p.Thr620=)
c.*1584A>C (n.*1584A>C)
c.2376A>C (p.Thr792=)
c.1656A>C (p.Thr552=)
c.2307A>C (p.Thr769=)
c.1134A>C (p.Thr378=)
gnomAD v4
11g.68157970T=CA1980500344KMT5Bc.2163A= (p.Thr721=)
n.2728A=
c.*2000A= (n.*2000A=)
c.*2043A= (n.*2043A=)
c.1860A= (p.Thr620=)
c.*1584A= (n.*1584A=)
c.2376A= (p.Thr792=)
c.1656A= (p.Thr552=)
c.2307A= (p.Thr769=)
c.1134A= (p.Thr378=)
11g.68157971G>ACA381587615KMT5Bc.2162C>T (p.Thr721Ile)
n.2727C>T
c.*1999C>T (n.*1999C>T)
c.*2042C>T (n.*2042C>T)
c.1859C>T (p.Thr620Ile)
c.*1583C>T (n.*1583C>T)
c.2375C>T (p.Thr792Ile)
c.1655C>T (p.Thr552Ile)
c.2306C>T (p.Thr769Ile)
c.1133C>T (p.Thr378Ile)
11g.68157971G>CCA381587609KMT5Bc.2162C>G (p.Thr721Arg)
n.2727C>G
c.*1999C>G (n.*1999C>G)
c.*2042C>G (n.*2042C>G)
c.1859C>G (p.Thr620Arg)
c.*1583C>G (n.*1583C>G)
c.2375C>G (p.Thr792Arg)
c.1655C>G (p.Thr552Arg)
c.2306C>G (p.Thr769Arg)
c.1133C>G (p.Thr378Arg)
11g.68157971G>TCA381587612KMT5Bc.2162C>A (p.Thr721Lys)
n.2727C>A
c.*1999C>A (n.*1999C>A)
c.*2042C>A (n.*2042C>A)
c.1859C>A (p.Thr620Lys)
c.*1583C>A (n.*1583C>A)
c.2375C>A (p.Thr792Lys)
c.1655C>A (p.Thr552Lys)
c.2306C>A (p.Thr769Lys)
c.1133C>A (p.Thr378Lys)
11g.68157972T>ACA381587619KMT5Bc.2161A>T (p.Thr721Ser)
n.2726A>T
c.*1998A>T (n.*1998A>T)
c.*2041A>T (n.*2041A>T)
c.1858A>T (p.Thr620Ser)
c.*1582A>T (n.*1582A>T)
c.2374A>T (p.Thr792Ser)
c.1654A>T (p.Thr552Ser)
c.2305A>T (p.Thr769Ser)
c.1132A>T (p.Thr378Ser)
11g.68157972T>CCA381587621KMT5Bc.2161A>G (p.Thr721Ala)
n.2726A>G
c.*1998A>G (n.*1998A>G)
c.*2041A>G (n.*2041A>G)
c.1858A>G (p.Thr620Ala)
c.*1582A>G (n.*1582A>G)
c.2374A>G (p.Thr792Ala)
c.1654A>G (p.Thr552Ala)
c.2305A>G (p.Thr769Ala)
c.1132A>G (p.Thr378Ala)
11g.68157972T>GCA381587623KMT5Bc.2161A>C (p.Thr721Pro)
n.2726A>C
c.*1998A>C (n.*1998A>C)
c.*2041A>C (n.*2041A>C)
c.1858A>C (p.Thr620Pro)
c.*1582A>C (n.*1582A>C)
c.2374A>C (p.Thr792Pro)
c.1654A>C (p.Thr552Pro)
c.2305A>C (p.Thr769Pro)
c.1132A>C (p.Thr378Pro)
11g.68157973A=CA1980500347KMT5Bc.2160T= (p.Tyr720=)
n.2725T=
c.*1997T= (n.*1997T=)
c.*2040T= (n.*2040T=)
c.1857T= (p.Tyr619=)
c.*1581T= (n.*1581T=)
c.2373T= (p.Tyr791=)
c.1653T= (p.Tyr551=)
c.2304T= (p.Tyr768=)
c.1131T= (p.Tyr377=)
11g.68157973A>CCA381587625KMT5Bc.2160T>G (p.Tyr720Ter)
n.2725T>G
c.*1997T>G (n.*1997T>G)
c.*2040T>G (n.*2040T>G)
c.1857T>G (p.Tyr619Ter)
c.*1581T>G (n.*1581T>G)
c.2373T>G (p.Tyr791Ter)
c.1653T>G (p.Tyr551Ter)
c.2304T>G (p.Tyr768Ter)
c.1131T>G (p.Tyr377Ter)
11g.68157973A>GCA6148019KMT5Bc.2160T>C (p.Tyr720=)
n.2725T>C
c.*1997T>C (n.*1997T>C)
c.*2040T>C (n.*2040T>C)
c.1857T>C (p.Tyr619=)
c.*1581T>C (n.*1581T>C)
c.2373T>C (p.Tyr791=)
c.1653T>C (p.Tyr551=)
c.2304T>C (p.Tyr768=)
c.1131T>C (p.Tyr377=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157973A>TCA381587630KMT5Bc.2160T>A (p.Tyr720Ter)
n.2725T>A
c.*1997T>A (n.*1997T>A)
c.*2040T>A (n.*2040T>A)
c.1857T>A (p.Tyr619Ter)
c.*1581T>A (n.*1581T>A)
c.2373T>A (p.Tyr791Ter)
c.1653T>A (p.Tyr551Ter)
c.2304T>A (p.Tyr768Ter)
c.1131T>A (p.Tyr377Ter)
11g.68157974T>ACA381587634KMT5Bc.2159A>T (p.Tyr720Phe)
n.2724A>T
c.*1996A>T (n.*1996A>T)
c.*2039A>T (n.*2039A>T)
c.1856A>T (p.Tyr619Phe)
c.*1580A>T (n.*1580A>T)
c.2372A>T (p.Tyr791Phe)
c.1652A>T (p.Tyr551Phe)
c.2303A>T (p.Tyr768Phe)
c.1130A>T (p.Tyr377Phe)
11g.68157974T>CCA381587637KMT5Bc.2159A>G (p.Tyr720Cys)
n.2724A>G
c.*1996A>G (n.*1996A>G)
c.*2039A>G (n.*2039A>G)
c.1856A>G (p.Tyr619Cys)
c.*1580A>G (n.*1580A>G)
c.2372A>G (p.Tyr791Cys)
c.1652A>G (p.Tyr551Cys)
c.2303A>G (p.Tyr768Cys)
c.1130A>G (p.Tyr377Cys)
11g.68157974T>GCA381587639KMT5Bc.2159A>C (p.Tyr720Ser)
n.2724A>C
c.*1996A>C (n.*1996A>C)
c.*2039A>C (n.*2039A>C)
c.1856A>C (p.Tyr619Ser)
c.*1580A>C (n.*1580A>C)
c.2372A>C (p.Tyr791Ser)
c.1652A>C (p.Tyr551Ser)
c.2303A>C (p.Tyr768Ser)
c.1130A>C (p.Tyr377Ser)
11g.68157975A>CCA381587662KMT5Bc.2158T>G (p.Tyr720Asp)
n.2723T>G
c.*1995T>G (n.*1995T>G)
c.*2038T>G (n.*2038T>G)
c.1855T>G (p.Tyr619Asp)
c.*1579T>G (n.*1579T>G)
c.2371T>G (p.Tyr791Asp)
c.1651T>G (p.Tyr551Asp)
c.2302T>G (p.Tyr768Asp)
c.1129T>G (p.Tyr377Asp)
11g.68157975A>GCA381587657KMT5Bc.2158T>C (p.Tyr720His)
n.2723T>C
c.*1995T>C (n.*1995T>C)
c.*2038T>C (n.*2038T>C)
c.1855T>C (p.Tyr619His)
c.*1579T>C (n.*1579T>C)
c.2371T>C (p.Tyr791His)
c.1651T>C (p.Tyr551His)
c.2302T>C (p.Tyr768His)
c.1129T>C (p.Tyr377His)
11g.68157975A>TCA381587654KMT5Bc.2158T>A (p.Tyr720Asn)
n.2723T>A
c.*1995T>A (n.*1995T>A)
c.*2038T>A (n.*2038T>A)
c.1855T>A (p.Tyr619Asn)
c.*1579T>A (n.*1579T>A)
c.2371T>A (p.Tyr791Asn)
c.1651T>A (p.Tyr551Asn)
c.2302T>A (p.Tyr768Asn)
c.1129T>A (p.Tyr377Asn)
11g.68157976A>CCA475514736KMT5Bc.2157T>G (p.Ser719=)
n.2722T>G
c.*1994T>G (n.*1994T>G)
c.*2037T>G (n.*2037T>G)
c.1854T>G (p.Ser618=)
c.*1578T>G (n.*1578T>G)
c.2370T>G (p.Ser790=)
c.1650T>G (p.Ser550=)
c.2301T>G (p.Ser767=)
c.1128T>G (p.Ser376=)
11g.68157976A>GCA475514737KMT5Bc.2157T>C (p.Ser719=)
n.2722T>C
c.*1994T>C (n.*1994T>C)
c.*2037T>C (n.*2037T>C)
c.1854T>C (p.Ser618=)
c.*1578T>C (n.*1578T>C)
c.2370T>C (p.Ser790=)
c.1650T>C (p.Ser550=)
c.2301T>C (p.Ser767=)
c.1128T>C (p.Ser376=)
11g.68157976A>TCA475514738KMT5Bc.2157T>A (p.Ser719=)
n.2722T>A
c.*1994T>A (n.*1994T>A)
c.*2037T>A (n.*2037T>A)
c.1854T>A (p.Ser618=)
c.*1578T>A (n.*1578T>A)
c.2370T>A (p.Ser790=)
c.1650T>A (p.Ser550=)
c.2301T>A (p.Ser767=)
c.1128T>A (p.Ser376=)
11g.68157977G>ACA381587665KMT5Bc.2156C>T (p.Ser719Phe)
n.2721C>T
c.*1993C>T (n.*1993C>T)
c.*2036C>T (n.*2036C>T)
c.1853C>T (p.Ser618Phe)
c.*1577C>T (n.*1577C>T)
c.2369C>T (p.Ser790Phe)
c.1649C>T (p.Ser550Phe)
c.2300C>T (p.Ser767Phe)
c.1127C>T (p.Ser376Phe)
gnomAD v4 COSMIC
11g.68157977G>CCA381587668KMT5Bc.2156C>G (p.Ser719Cys)
n.2721C>G
c.*1993C>G (n.*1993C>G)
c.*2036C>G (n.*2036C>G)
c.1853C>G (p.Ser618Cys)
c.*1577C>G (n.*1577C>G)
c.2369C>G (p.Ser790Cys)
c.1649C>G (p.Ser550Cys)
c.2300C>G (p.Ser767Cys)
c.1127C>G (p.Ser376Cys)
11g.68157977G>TCA381587669KMT5Bc.2156C>A (p.Ser719Tyr)
n.2721C>A
c.*1993C>A (n.*1993C>A)
c.*2036C>A (n.*2036C>A)
c.1853C>A (p.Ser618Tyr)
c.*1577C>A (n.*1577C>A)
c.2369C>A (p.Ser790Tyr)
c.1649C>A (p.Ser550Tyr)
c.2300C>A (p.Ser767Tyr)
c.1127C>A (p.Ser376Tyr)
11g.68157978A=CA1980500350KMT5Bc.2155T= (p.Ser719=)
n.2720T=
c.*1992T= (n.*1992T=)
c.*2035T= (n.*2035T=)
c.1852T= (p.Ser618=)
c.*1576T= (n.*1576T=)
c.2368T= (p.Ser790=)
c.1648T= (p.Ser550=)
c.2299T= (p.Ser767=)
c.1126T= (p.Ser376=)
11g.68157978A>CCA6148020KMT5Bc.2155T>G (p.Ser719Ala)
n.2720T>G
c.*1992T>G (n.*1992T>G)
c.*2035T>G (n.*2035T>G)
c.1852T>G (p.Ser618Ala)
c.*1576T>G (n.*1576T>G)
c.2368T>G (p.Ser790Ala)
c.1648T>G (p.Ser550Ala)
c.2299T>G (p.Ser767Ala)
c.1126T>G (p.Ser376Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157978A>GCA381587676KMT5Bc.2155T>C (p.Ser719Pro)
n.2720T>C
c.*1992T>C (n.*1992T>C)
c.*2035T>C (n.*2035T>C)
c.1852T>C (p.Ser618Pro)
c.*1576T>C (n.*1576T>C)
c.2368T>C (p.Ser790Pro)
c.1648T>C (p.Ser550Pro)
c.2299T>C (p.Ser767Pro)
c.1126T>C (p.Ser376Pro)
11g.68157978A>TCA381587679KMT5Bc.2155T>A (p.Ser719Thr)
n.2720T>A
c.*1992T>A (n.*1992T>A)
c.*2035T>A (n.*2035T>A)
c.1852T>A (p.Ser618Thr)
c.*1576T>A (n.*1576T>A)
c.2368T>A (p.Ser790Thr)
c.1648T>A (p.Ser550Thr)
c.2299T>A (p.Ser767Thr)
c.1126T>A (p.Ser376Thr)
11g.68157979C>ACA475514739KMT5Bc.2154G>T (p.Gly718=)
n.2719G>T
c.*1991G>T (n.*1991G>T)
c.*2034G>T (n.*2034G>T)
c.1851G>T (p.Gly617=)
c.*1575G>T (n.*1575G>T)
c.2367G>T (p.Gly789=)
c.1647G>T (p.Gly549=)
c.2298G>T (p.Gly766=)
c.1125G>T (p.Gly375=)
gnomAD v4
11g.68157979C>GCA475514740KMT5Bc.2154G>C (p.Gly718=)
n.2719G>C
c.*1991G>C (n.*1991G>C)
c.*2034G>C (n.*2034G>C)
c.1851G>C (p.Gly617=)
c.*1575G>C (n.*1575G>C)
c.2367G>C (p.Gly789=)
c.1647G>C (p.Gly549=)
c.2298G>C (p.Gly766=)
c.1125G>C (p.Gly375=)
11g.68157979C>TCA475514741KMT5Bc.2154G>A (p.Gly718=)
n.2719G>A
c.*1991G>A (n.*1991G>A)
c.*2034G>A (n.*2034G>A)
c.1851G>A (p.Gly617=)
c.*1575G>A (n.*1575G>A)
c.2367G>A (p.Gly789=)
c.1647G>A (p.Gly549=)
c.2298G>A (p.Gly766=)
c.1125G>A (p.Gly375=)
11g.68157980C>ACA381587682KMT5Bc.2153G>T (p.Gly718Val)
n.2718G>T
c.*1990G>T (n.*1990G>T)
c.*2033G>T (n.*2033G>T)
c.1850G>T (p.Gly617Val)
c.*1574G>T (n.*1574G>T)
c.2366G>T (p.Gly789Val)
c.1646G>T (p.Gly549Val)
c.2297G>T (p.Gly766Val)
c.1124G>T (p.Gly375Val)
11g.68157980C=CA1980500353KMT5Bc.2153G= (p.Gly718=)
n.2718G=
c.*1990G= (n.*1990G=)
c.*2033G= (n.*2033G=)
c.1850G= (p.Gly617=)
c.*1574G= (n.*1574G=)
c.2366G= (p.Gly789=)
c.1646G= (p.Gly549=)
c.2297G= (p.Gly766=)
c.1124G= (p.Gly375=)
11g.68157980C>GCA381587685KMT5Bc.2153G>C (p.Gly718Ala)
n.2718G>C
c.*1990G>C (n.*1990G>C)
c.*2033G>C (n.*2033G>C)
c.1850G>C (p.Gly617Ala)
c.*1574G>C (n.*1574G>C)
c.2366G>C (p.Gly789Ala)
c.1646G>C (p.Gly549Ala)
c.2297G>C (p.Gly766Ala)
c.1124G>C (p.Gly375Ala)
gnomAD v4
11g.68157980C>TCA6148021KMT5Bc.2153G>A (p.Gly718Glu)
n.2718G>A
c.*1990G>A (n.*1990G>A)
c.*2033G>A (n.*2033G>A)
c.1850G>A (p.Gly617Glu)
c.*1574G>A (n.*1574G>A)
c.2366G>A (p.Gly789Glu)
c.1646G>A (p.Gly549Glu)
c.2297G>A (p.Gly766Glu)
c.1124G>A (p.Gly375Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68157981C>ACA381587695KMT5Bc.2152G>T (p.Gly718Trp)
n.2717G>T
c.*1989G>T (n.*1989G>T)
c.*2032G>T (n.*2032G>T)
c.1849G>T (p.Gly617Trp)
c.*1573G>T (n.*1573G>T)
c.2365G>T (p.Gly789Trp)
c.1645G>T (p.Gly549Trp)
c.2296G>T (p.Gly766Trp)
c.1123G>T (p.Gly375Trp)
ClinVar
11g.68157981C=CA1980500362KMT5Bc.2152G= (p.Gly718=)
n.2717G=
c.*1989G= (n.*1989G=)
c.*2032G= (n.*2032G=)
c.1849G= (p.Gly617=)
c.*1573G= (n.*1573G=)
c.2365G= (p.Gly789=)
c.1645G= (p.Gly549=)
c.2296G= (p.Gly766=)
c.1123G= (p.Gly375=)
11g.68157981C>GCA381587700KMT5Bc.2152G>C (p.Gly718Arg)
n.2717G>C
c.*1989G>C (n.*1989G>C)
c.*2032G>C (n.*2032G>C)
c.1849G>C (p.Gly617Arg)
c.*1573G>C (n.*1573G>C)
c.2365G>C (p.Gly789Arg)
c.1645G>C (p.Gly549Arg)
c.2296G>C (p.Gly766Arg)
c.1123G>C (p.Gly375Arg)
11g.68157981C>TCA381587703KMT5Bc.2152G>A (p.Gly718Arg)
n.2717G>A
c.*1989G>A (n.*1989G>A)
c.*2032G>A (n.*2032G>A)
c.1849G>A (p.Gly617Arg)
c.*1573G>A (n.*1573G>A)
c.2365G>A (p.Gly789Arg)
c.1645G>A (p.Gly549Arg)
c.2296G>A (p.Gly766Arg)
c.1123G>A (p.Gly375Arg)
dbSNP gnomAD v3 gnomAD v4
11g.68157981_68157984delinsCCCTCA1980500358KMT5Bc.2149_2152delinsAGGG (p.Arg717=)
n.2714_2717delinsAGGG
c.*1986_*1989delinsAGGG (n.*1986_*1989delinsAGGG)
c.*2029_*2032delinsAGGG (n.*2029_*2032delinsAGGG)
c.1846_1849delinsAGGG (p.Arg616=)
c.*1570_*1573delinsAGGG (n.*1570_*1573delinsAGGG)
c.2362_2365delinsAGGG (p.Arg788=)
c.1642_1645delinsAGGG (p.Arg548=)
c.2293_2296delinsAGGG (p.Arg765=)
c.1120_1123delinsAGGG (p.Arg374=)
11g.68157982C>ACA381587712KMT5Bc.2151G>T (p.Arg717Ser)
n.2716G>T
c.*1988G>T (n.*1988G>T)
c.*2031G>T (n.*2031G>T)
c.1848G>T (p.Arg616Ser)
c.*1572G>T (n.*1572G>T)
c.2364G>T (p.Arg788Ser)
c.1644G>T (p.Arg548Ser)
c.2295G>T (p.Arg765Ser)
c.1122G>T (p.Arg374Ser)
11g.68157982C>GCA381587709KMT5Bc.2151G>C (p.Arg717Ser)
n.2716G>C
c.*1988G>C (n.*1988G>C)
c.*2031G>C (n.*2031G>C)
c.1848G>C (p.Arg616Ser)
c.*1572G>C (n.*1572G>C)
c.2364G>C (p.Arg788Ser)
c.1644G>C (p.Arg548Ser)
c.2295G>C (p.Arg765Ser)
c.1122G>C (p.Arg374Ser)
11g.68157982C>TCA475514742KMT5Bc.2151G>A (p.Arg717=)
n.2716G>A
c.*1988G>A (n.*1988G>A)
c.*2031G>A (n.*2031G>A)
c.1848G>A (p.Arg616=)
c.*1572G>A (n.*1572G>A)
c.2364G>A (p.Arg788=)
c.1644G>A (p.Arg548=)
c.2295G>A (p.Arg765=)
c.1122G>A (p.Arg374=)
gnomAD v4
11g.68157982_68157984delCA679570361KMT5Bc.2149_2151del (p.Arg717del)
n.2714_2716del
c.*1986_*1988del (n.*1986_*1988del)
c.*2029_*2031del (n.*2029_*2031del)
c.1846_1848del (p.Arg616del)
c.*1570_*1572del (n.*1570_*1572del)
c.2362_2364del (p.Arg788del)
c.1642_1644del (p.Arg548del)
c.2293_2295del (p.Arg765del)
c.1120_1122del (p.Arg374del)
dbSNP gnomAD v3 gnomAD v4
11g.68157983C>ACA381587716KMT5Bc.2150G>T (p.Arg717Met)
n.2715G>T
c.*1987G>T (n.*1987G>T)
c.*2030G>T (n.*2030G>T)
c.1847G>T (p.Arg616Met)
c.*1571G>T (n.*1571G>T)
c.2363G>T (p.Arg788Met)
c.1643G>T (p.Arg548Met)
c.2294G>T (p.Arg765Met)
c.1121G>T (p.Arg374Met)
11g.68157983C>GCA381587719KMT5Bc.2150G>C (p.Arg717Thr)
n.2715G>C
c.*1987G>C (n.*1987G>C)
c.*2030G>C (n.*2030G>C)
c.1847G>C (p.Arg616Thr)
c.*1571G>C (n.*1571G>C)
c.2363G>C (p.Arg788Thr)
c.1643G>C (p.Arg548Thr)
c.2294G>C (p.Arg765Thr)
c.1121G>C (p.Arg374Thr)
11g.68157983C>TCA381587727KMT5Bc.2150G>A (p.Arg717Lys)
n.2715G>A
c.*1987G>A (n.*1987G>A)
c.*2030G>A (n.*2030G>A)
c.1847G>A (p.Arg616Lys)
c.*1571G>A (n.*1571G>A)
c.2363G>A (p.Arg788Lys)
c.1643G>A (p.Arg548Lys)
c.2294G>A (p.Arg765Lys)
c.1121G>A (p.Arg374Lys)
11g.68157984T>ACA381587730KMT5Bc.2149A>T (p.Arg717Trp)
n.2714A>T
c.*1986A>T (n.*1986A>T)
c.*2029A>T (n.*2029A>T)
c.1846A>T (p.Arg616Trp)
c.*1570A>T (n.*1570A>T)
c.2362A>T (p.Arg788Trp)
c.1642A>T (p.Arg548Trp)
c.2293A>T (p.Arg765Trp)
c.1120A>T (p.Arg374Trp)
11g.68157984T>CCA381587732KMT5Bc.2149A>G (p.Arg717Gly)
n.2714A>G
c.*1986A>G (n.*1986A>G)
c.*2029A>G (n.*2029A>G)
c.1846A>G (p.Arg616Gly)
c.*1570A>G (n.*1570A>G)
c.2362A>G (p.Arg788Gly)
c.1642A>G (p.Arg548Gly)
c.2293A>G (p.Arg765Gly)
c.1120A>G (p.Arg374Gly)
gnomAD v4
11g.68157984T>GCA475514743KMT5Bc.2149A>C (p.Arg717=)
n.2714A>C
c.*1986A>C (n.*1986A>C)
c.*2029A>C (n.*2029A>C)
c.1846A>C (p.Arg616=)
c.*1570A>C (n.*1570A>C)
c.2362A>C (p.Arg788=)
c.1642A>C (p.Arg548=)
c.2293A>C (p.Arg765=)
c.1120A>C (p.Arg374=)
dbSNP gnomAD v3 gnomAD v4
11g.68157984T=CA1980500371KMT5Bc.2149A= (p.Arg717=)
n.2714A=
c.*1986A= (n.*1986A=)
c.*2029A= (n.*2029A=)
c.1846A= (p.Arg616=)
c.*1570A= (n.*1570A=)
c.2362A= (p.Arg788=)
c.1642A= (p.Arg548=)
c.2293A= (p.Arg765=)
c.1120A= (p.Arg374=)
11g.68157985A>CCA381587734KMT5Bc.2148T>G (p.Asn716Lys)
n.2713T>G
c.*1985T>G (n.*1985T>G)
c.*2028T>G (n.*2028T>G)
c.1845T>G (p.Asn615Lys)
c.*1569T>G (n.*1569T>G)
c.2361T>G (p.Asn787Lys)
c.1641T>G (p.Asn547Lys)
c.2292T>G (p.Asn764Lys)
c.1119T>G (p.Asn373Lys)
11g.68157985A>GCA475514744KMT5Bc.2148T>C (p.Asn716=)
n.2713T>C
c.*1985T>C (n.*1985T>C)
c.*2028T>C (n.*2028T>C)
c.1845T>C (p.Asn615=)
c.*1569T>C (n.*1569T>C)
c.2361T>C (p.Asn787=)
c.1641T>C (p.Asn547=)
c.2292T>C (p.Asn764=)
c.1119T>C (p.Asn373=)
11g.68157985A>TCA381587747KMT5Bc.2148T>A (p.Asn716Lys)
n.2713T>A
c.*1985T>A (n.*1985T>A)
c.*2028T>A (n.*2028T>A)
c.1845T>A (p.Asn615Lys)
c.*1569T>A (n.*1569T>A)
c.2361T>A (p.Asn787Lys)
c.1641T>A (p.Asn547Lys)
c.2292T>A (p.Asn764Lys)
c.1119T>A (p.Asn373Lys)
11g.68157986T>ACA381587751KMT5Bc.2147A>T (p.Asn716Ile)
n.2712A>T
c.*1984A>T (n.*1984A>T)
c.*2027A>T (n.*2027A>T)
c.1844A>T (p.Asn615Ile)
c.*1568A>T (n.*1568A>T)
c.2360A>T (p.Asn787Ile)
c.1640A>T (p.Asn547Ile)
c.2291A>T (p.Asn764Ile)
c.1118A>T (p.Asn373Ile)
11g.68157986T>CCA381587754KMT5Bc.2147A>G (p.Asn716Ser)
n.2712A>G
c.*1984A>G (n.*1984A>G)
c.*2027A>G (n.*2027A>G)
c.1844A>G (p.Asn615Ser)
c.*1568A>G (n.*1568A>G)
c.2360A>G (p.Asn787Ser)
c.1640A>G (p.Asn547Ser)
c.2291A>G (p.Asn764Ser)
c.1118A>G (p.Asn373Ser)
11g.68157986T>GCA381587766KMT5Bc.2147A>C (p.Asn716Thr)
n.2712A>C
c.*1984A>C (n.*1984A>C)
c.*2027A>C (n.*2027A>C)
c.1844A>C (p.Asn615Thr)
c.*1568A>C (n.*1568A>C)
c.2360A>C (p.Asn787Thr)
c.1640A>C (p.Asn547Thr)
c.2291A>C (p.Asn764Thr)
c.1118A>C (p.Asn373Thr)
11g.68157987T>ACA381587767KMT5Bc.2146A>T (p.Asn716Tyr)
n.2711A>T
c.*1983A>T (n.*1983A>T)
c.*2026A>T (n.*2026A>T)
c.1843A>T (p.Asn615Tyr)
c.*1567A>T (n.*1567A>T)
c.2359A>T (p.Asn787Tyr)
c.1639A>T (p.Asn547Tyr)
c.2290A>T (p.Asn764Tyr)
c.1117A>T (p.Asn373Tyr)
11g.68157987T>CCA381587768KMT5Bc.2146A>G (p.Asn716Asp)
n.2711A>G
c.*1983A>G (n.*1983A>G)
c.*2026A>G (n.*2026A>G)
c.1843A>G (p.Asn615Asp)
c.*1567A>G (n.*1567A>G)
c.2359A>G (p.Asn787Asp)
c.1639A>G (p.Asn547Asp)
c.2290A>G (p.Asn764Asp)
c.1117A>G (p.Asn373Asp)
dbSNP gnomAD v4
11g.68157987T>GCA381587769KMT5Bc.2146A>C (p.Asn716His)
n.2711A>C
c.*1983A>C (n.*1983A>C)
c.*2026A>C (n.*2026A>C)
c.1843A>C (p.Asn615His)
c.*1567A>C (n.*1567A>C)
c.2359A>C (p.Asn787His)
c.1639A>C (p.Asn547His)
c.2290A>C (p.Asn764His)
c.1117A>C (p.Asn373His)
11g.68157987T=CA1980500373KMT5Bc.2146A= (p.Asn716=)
n.2711A=
c.*1983A= (n.*1983A=)
c.*2026A= (n.*2026A=)
c.1843A= (p.Asn615=)
c.*1567A= (n.*1567A=)
c.2359A= (p.Asn787=)
c.1639A= (p.Asn547=)
c.2290A= (p.Asn764=)
c.1117A= (p.Asn373=)
11g.68157988T>ACA381587778KMT5Bc.2145A>T (p.Glu715Asp)
n.2710A>T
c.*1982A>T (n.*1982A>T)
c.*2025A>T (n.*2025A>T)
c.1842A>T (p.Glu614Asp)
c.*1566A>T (n.*1566A>T)
c.2358A>T (p.Glu786Asp)
c.1638A>T (p.Glu546Asp)
c.2289A>T (p.Glu763Asp)
c.1116A>T (p.Glu372Asp)
11g.68157988T>CCA475514745KMT5Bc.2145A>G (p.Glu715=)
n.2710A>G
c.*1982A>G (n.*1982A>G)
c.*2025A>G (n.*2025A>G)
c.1842A>G (p.Glu614=)
c.*1566A>G (n.*1566A>G)
c.2358A>G (p.Glu786=)
c.1638A>G (p.Glu546=)
c.2289A>G (p.Glu763=)
c.1116A>G (p.Glu372=)
11g.68157988T>GCA381587772KMT5Bc.2145A>C (p.Glu715Asp)
n.2710A>C
c.*1982A>C (n.*1982A>C)
c.*2025A>C (n.*2025A>C)
c.1842A>C (p.Glu614Asp)
c.*1566A>C (n.*1566A>C)
c.2358A>C (p.Glu786Asp)
c.1638A>C (p.Glu546Asp)
c.2289A>C (p.Glu763Asp)
c.1116A>C (p.Glu372Asp)
11g.68157989T>ACA381587781KMT5Bc.2144A>T (p.Glu715Val)
n.2709A>T
c.*1981A>T (n.*1981A>T)
c.*2024A>T (n.*2024A>T)
c.1841A>T (p.Glu614Val)
c.*1565A>T (n.*1565A>T)
c.2357A>T (p.Glu786Val)
c.1637A>T (p.Glu546Val)
c.2288A>T (p.Glu763Val)
c.1115A>T (p.Glu372Val)
11g.68157989T>CCA381587783KMT5Bc.2144A>G (p.Glu715Gly)
n.2709A>G
c.*1981A>G (n.*1981A>G)
c.*2024A>G (n.*2024A>G)
c.1841A>G (p.Glu614Gly)
c.*1565A>G (n.*1565A>G)
c.2357A>G (p.Glu786Gly)
c.1637A>G (p.Glu546Gly)
c.2288A>G (p.Glu763Gly)
c.1115A>G (p.Glu372Gly)
11g.68157989T>GCA381587799KMT5Bc.2144A>C (p.Glu715Ala)
n.2709A>C
c.*1981A>C (n.*1981A>C)
c.*2024A>C (n.*2024A>C)
c.1841A>C (p.Glu614Ala)
c.*1565A>C (n.*1565A>C)
c.2357A>C (p.Glu786Ala)
c.1637A>C (p.Glu546Ala)
c.2288A>C (p.Glu763Ala)
c.1115A>C (p.Glu372Ala)
11g.68157991_68157993delCA2574900137KMT5Bc.2142_2144del (p.Glu715del)
n.2707_2709del
c.*1979_*1981del (n.*1979_*1981del)
c.*2022_*2024del (n.*2022_*2024del)
c.1839_1841del (p.Glu614del)
c.*1563_*1565del (n.*1563_*1565del)
c.2355_2357del (p.Glu786del)
c.1635_1637del (p.Glu546del)
c.2286_2288del (p.Glu763del)
c.1113_1115del (p.Glu372del)
11g.68157990C>ACA381587802KMT5Bc.2143G>T (p.Glu715Ter)
n.2708G>T
c.*1980G>T (n.*1980G>T)
c.*2023G>T (n.*2023G>T)
c.1840G>T (p.Glu614Ter)
c.*1564G>T (n.*1564G>T)
c.2356G>T (p.Glu786Ter)
c.1636G>T (p.Glu546Ter)
c.2287G>T (p.Glu763Ter)
c.1114G>T (p.Glu372Ter)
11g.68157990C>GCA381587805KMT5Bc.2143G>C (p.Glu715Gln)
n.2708G>C
c.*1980G>C (n.*1980G>C)
c.*2023G>C (n.*2023G>C)
c.1840G>C (p.Glu614Gln)
c.*1564G>C (n.*1564G>C)
c.2356G>C (p.Glu786Gln)
c.1636G>C (p.Glu546Gln)
c.2287G>C (p.Glu763Gln)
c.1114G>C (p.Glu372Gln)
dbSNP
11g.68157990C>TCA381587809KMT5Bc.2143G>A (p.Glu715Lys)
n.2708G>A
c.*1980G>A (n.*1980G>A)
c.*2023G>A (n.*2023G>A)
c.1840G>A (p.Glu614Lys)
c.*1564G>A (n.*1564G>A)
c.2356G>A (p.Glu786Lys)
c.1636G>A (p.Glu546Lys)
c.2287G>A (p.Glu763Lys)
c.1114G>A (p.Glu372Lys)
11g.68157991C>ACA381587810KMT5Bc.2142G>T (p.Glu714Asp)
n.2707G>T
c.*1979G>T (n.*1979G>T)
c.*2022G>T (n.*2022G>T)
c.1839G>T (p.Glu613Asp)
c.*1563G>T (n.*1563G>T)
c.2355G>T (p.Glu785Asp)
c.1635G>T (p.Glu545Asp)
c.2286G>T (p.Glu762Asp)
c.1113G>T (p.Glu371Asp)
11g.68157991C>GCA381587813KMT5Bc.2142G>C (p.Glu714Asp)
n.2707G>C
c.*1979G>C (n.*1979G>C)
c.*2022G>C (n.*2022G>C)
c.1839G>C (p.Glu613Asp)
c.*1563G>C (n.*1563G>C)
c.2355G>C (p.Glu785Asp)
c.1635G>C (p.Glu545Asp)
c.2286G>C (p.Glu762Asp)
c.1113G>C (p.Glu371Asp)
11g.68157991C>TCA475514746KMT5Bc.2142G>A (p.Glu714=)
n.2707G>A
c.*1979G>A (n.*1979G>A)
c.*2022G>A (n.*2022G>A)
c.1839G>A (p.Glu613=)
c.*1563G>A (n.*1563G>A)
c.2355G>A (p.Glu785=)
c.1635G>A (p.Glu545=)
c.2286G>A (p.Glu762=)
c.1113G>A (p.Glu371=)
gnomAD v4
11g.68157992T>ACA381587814KMT5Bc.2141A>T (p.Glu714Val)
n.2706A>T
c.*1978A>T (n.*1978A>T)
c.*2021A>T (n.*2021A>T)
c.1838A>T (p.Glu613Val)
c.*1562A>T (n.*1562A>T)
c.2354A>T (p.Glu785Val)
c.1634A>T (p.Glu545Val)
c.2285A>T (p.Glu762Val)
c.1112A>T (p.Glu371Val)
11g.68157992T>CCA381587815KMT5Bc.2141A>G (p.Glu714Gly)
n.2706A>G
c.*1978A>G (n.*1978A>G)
c.*2021A>G (n.*2021A>G)
c.1838A>G (p.Glu613Gly)
c.*1562A>G (n.*1562A>G)
c.2354A>G (p.Glu785Gly)
c.1634A>G (p.Glu545Gly)
c.2285A>G (p.Glu762Gly)
c.1112A>G (p.Glu371Gly)
11g.68157992T>GCA381587816KMT5Bc.2141A>C (p.Glu714Ala)
n.2706A>C
c.*1978A>C (n.*1978A>C)
c.*2021A>C (n.*2021A>C)
c.1838A>C (p.Glu613Ala)
c.*1562A>C (n.*1562A>C)
c.2354A>C (p.Glu785Ala)
c.1634A>C (p.Glu545Ala)
c.2285A>C (p.Glu762Ala)
c.1112A>C (p.Glu371Ala)
11g.68157993C>ACA381587819KMT5Bc.2140G>T (p.Glu714Ter)
n.2705G>T
c.*1977G>T (n.*1977G>T)
c.*2020G>T (n.*2020G>T)
c.1837G>T (p.Glu613Ter)
c.*1561G>T (n.*1561G>T)
c.2353G>T (p.Glu785Ter)
c.1633G>T (p.Glu545Ter)
c.2284G>T (p.Glu762Ter)
c.1111G>T (p.Glu371Ter)
11g.68157993C>GCA381587822KMT5Bc.2140G>C (p.Glu714Gln)
n.2705G>C
c.*1977G>C (n.*1977G>C)
c.*2020G>C (n.*2020G>C)
c.1837G>C (p.Glu613Gln)
c.*1561G>C (n.*1561G>C)
c.2353G>C (p.Glu785Gln)
c.1633G>C (p.Glu545Gln)
c.2284G>C (p.Glu762Gln)
c.1111G>C (p.Glu371Gln)
11g.68157993C>TCA381587826KMT5Bc.2140G>A (p.Glu714Lys)
n.2705G>A
c.*1977G>A (n.*1977G>A)
c.*2020G>A (n.*2020G>A)
c.1837G>A (p.Glu613Lys)
c.*1561G>A (n.*1561G>A)
c.2353G>A (p.Glu785Lys)
c.1633G>A (p.Glu545Lys)
c.2284G>A (p.Glu762Lys)
c.1111G>A (p.Glu371Lys)
11g.68157994A>CCA381587831KMT5Bc.2139T>G (p.Asp713Glu)
n.2704T>G
c.*1976T>G (n.*1976T>G)
c.*2019T>G (n.*2019T>G)
c.1836T>G (p.Asp612Glu)
c.*1560T>G (n.*1560T>G)
c.2352T>G (p.Asp784Glu)
c.1632T>G (p.Asp544Glu)
c.2283T>G (p.Asp761Glu)
c.1110T>G (p.Asp370Glu)
11g.68157994A>GCA475514747KMT5Bc.2139T>C (p.Asp713=)
n.2704T>C
c.*1976T>C (n.*1976T>C)
c.*2019T>C (n.*2019T>C)
c.1836T>C (p.Asp612=)
c.*1560T>C (n.*1560T>C)
c.2352T>C (p.Asp784=)
c.1632T>C (p.Asp544=)
c.2283T>C (p.Asp761=)
c.1110T>C (p.Asp370=)
gnomAD v4
11g.68157994A>TCA381587843KMT5Bc.2139T>A (p.Asp713Glu)
n.2704T>A
c.*1976T>A (n.*1976T>A)
c.*2019T>A (n.*2019T>A)
c.1836T>A (p.Asp612Glu)
c.*1560T>A (n.*1560T>A)
c.2352T>A (p.Asp784Glu)
c.1632T>A (p.Asp544Glu)
c.2283T>A (p.Asp761Glu)
c.1110T>A (p.Asp370Glu)
11g.68157995T>ACA381587847KMT5Bc.2138A>T (p.Asp713Val)
n.2703A>T
c.*1975A>T (n.*1975A>T)
c.*2018A>T (n.*2018A>T)
c.1835A>T (p.Asp612Val)
c.*1559A>T (n.*1559A>T)
c.2351A>T (p.Asp784Val)
c.1631A>T (p.Asp544Val)
c.2282A>T (p.Asp761Val)
c.1109A>T (p.Asp370Val)
11g.68157995T>CCA381587854KMT5Bc.2138A>G (p.Asp713Gly)
n.2703A>G
c.*1975A>G (n.*1975A>G)
c.*2018A>G (n.*2018A>G)
c.1835A>G (p.Asp612Gly)
c.*1559A>G (n.*1559A>G)
c.2351A>G (p.Asp784Gly)
c.1631A>G (p.Asp544Gly)
c.2282A>G (p.Asp761Gly)
c.1109A>G (p.Asp370Gly)
gnomAD v4
11g.68157995T>GCA381587852KMT5Bc.2138A>C (p.Asp713Ala)
n.2703A>C
c.*1975A>C (n.*1975A>C)
c.*2018A>C (n.*2018A>C)
c.1835A>C (p.Asp612Ala)
c.*1559A>C (n.*1559A>C)
c.2351A>C (p.Asp784Ala)
c.1631A>C (p.Asp544Ala)
c.2282A>C (p.Asp761Ala)
c.1109A>C (p.Asp370Ala)
11g.68157996C>ACA381587860KMT5Bc.2137G>T (p.Asp713Tyr)
n.2702G>T
c.*1974G>T (n.*1974G>T)
c.*2017G>T (n.*2017G>T)
c.1834G>T (p.Asp612Tyr)
c.*1558G>T (n.*1558G>T)
c.2350G>T (p.Asp784Tyr)
c.1630G>T (p.Asp544Tyr)
c.2281G>T (p.Asp761Tyr)
c.1108G>T (p.Asp370Tyr)
11g.68157996C>GCA381587864KMT5Bc.2137G>C (p.Asp713His)
n.2702G>C
c.*1974G>C (n.*1974G>C)
c.*2017G>C (n.*2017G>C)
c.1834G>C (p.Asp612His)
c.*1558G>C (n.*1558G>C)
c.2350G>C (p.Asp784His)
c.1630G>C (p.Asp544His)
c.2281G>C (p.Asp761His)
c.1108G>C (p.Asp370His)
11g.68157996C>TCA381587862KMT5Bc.2137G>A (p.Asp713Asn)
n.2702G>A
c.*1974G>A (n.*1974G>A)
c.*2017G>A (n.*2017G>A)
c.1834G>A (p.Asp612Asn)
c.*1558G>A (n.*1558G>A)
c.2350G>A (p.Asp784Asn)
c.1630G>A (p.Asp544Asn)
c.2281G>A (p.Asp761Asn)
c.1108G>A (p.Asp370Asn)
11g.68157997T>ACA475514748KMT5Bc.2136A>T (p.Arg712=)
n.2701A>T
c.*1973A>T (n.*1973A>T)
c.*2016A>T (n.*2016A>T)
c.1833A>T (p.Arg611=)
c.*1557A>T (n.*1557A>T)
c.2349A>T (p.Arg783=)
c.1629A>T (p.Arg543=)
c.2280A>T (p.Arg760=)
c.1107A>T (p.Arg369=)
11g.68157997T>CCA475514749KMT5Bc.2136A>G (p.Arg712=)
n.2701A>G
c.*1973A>G (n.*1973A>G)
c.*2016A>G (n.*2016A>G)
c.1833A>G (p.Arg611=)
c.*1557A>G (n.*1557A>G)
c.2349A>G (p.Arg783=)
c.1629A>G (p.Arg543=)
c.2280A>G (p.Arg760=)
c.1107A>G (p.Arg369=)
dbSNP
11g.68157997T>GCA475514750KMT5Bc.2136A>C (p.Arg712=)
n.2701A>C
c.*1973A>C (n.*1973A>C)
c.*2016A>C (n.*2016A>C)
c.1833A>C (p.Arg611=)
c.*1557A>C (n.*1557A>C)
c.2349A>C (p.Arg783=)
c.1629A>C (p.Arg543=)
c.2280A>C (p.Arg760=)
c.1107A>C (p.Arg369=)
11g.68157997T=CA1980500375KMT5Bc.2136A= (p.Arg712=)
n.2701A=
c.*1973A= (n.*1973A=)
c.*2016A= (n.*2016A=)
c.1833A= (p.Arg611=)
c.*1557A= (n.*1557A=)
c.2349A= (p.Arg783=)
c.1629A= (p.Arg543=)
c.2280A= (p.Arg760=)
c.1107A= (p.Arg369=)
11g.68157998C>ACA381587866KMT5Bc.2135G>T (p.Arg712Leu)
n.2700G>T
c.*1972G>T (n.*1972G>T)
c.*2015G>T (n.*2015G>T)
c.1832G>T (p.Arg611Leu)
c.*1556G>T (n.*1556G>T)
c.2348G>T (p.Arg783Leu)
c.1628G>T (p.Arg543Leu)
c.2279G>T (p.Arg760Leu)
c.1106G>T (p.Arg369Leu)
11g.68157998C=CA1980500381KMT5Bc.2135G= (p.Arg712=)
n.2700G=
c.*1972G= (n.*1972G=)
c.*2015G= (n.*2015G=)
c.1832G= (p.Arg611=)
c.*1556G= (n.*1556G=)
c.2348G= (p.Arg783=)
c.1628G= (p.Arg543=)
c.2279G= (p.Arg760=)
c.1106G= (p.Arg369=)
11g.68157998C>GCA381587870KMT5Bc.2135G>C (p.Arg712Pro)
n.2700G>C
c.*1972G>C (n.*1972G>C)
c.*2015G>C (n.*2015G>C)
c.1832G>C (p.Arg611Pro)
c.*1556G>C (n.*1556G>C)
c.2348G>C (p.Arg783Pro)
c.1628G>C (p.Arg543Pro)
c.2279G>C (p.Arg760Pro)
c.1106G>C (p.Arg369Pro)
gnomAD v4
11g.68157998C>TCA6148022KMT5Bc.2135G>A (p.Arg712Gln)
n.2700G>A
c.*1972G>A (n.*1972G>A)
c.*2015G>A (n.*2015G>A)
c.1832G>A (p.Arg611Gln)
c.*1556G>A (n.*1556G>A)
c.2348G>A (p.Arg783Gln)
c.1628G>A (p.Arg543Gln)
c.2279G>A (p.Arg760Gln)
c.1106G>A (p.Arg369Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68157999G>ACA381587874KMT5Bc.2134C>T (p.Arg712Ter)
n.2699C>T
c.*1971C>T (n.*1971C>T)
c.*2014C>T (n.*2014C>T)
c.1831C>T (p.Arg611Ter)
c.*1555C>T (n.*1555C>T)
c.2347C>T (p.Arg783Ter)
c.1627C>T (p.Arg543Ter)
c.2278C>T (p.Arg760Ter)
c.1105C>T (p.Arg369Ter)
ClinVar dbSNP COSMIC COSMIC
11g.68157999G>CCA381587881KMT5Bc.2134C>G (p.Arg712Gly)
n.2699C>G
c.*1971C>G (n.*1971C>G)
c.*2014C>G (n.*2014C>G)
c.1831C>G (p.Arg611Gly)
c.*1555C>G (n.*1555C>G)
c.2347C>G (p.Arg783Gly)
c.1627C>G (p.Arg543Gly)
c.2278C>G (p.Arg760Gly)
c.1105C>G (p.Arg369Gly)
11g.68157999G=CA1980500390KMT5Bc.2134C= (p.Arg712=)
n.2699C=
c.*1971C= (n.*1971C=)
c.*2014C= (n.*2014C=)
c.1831C= (p.Arg611=)
c.*1555C= (n.*1555C=)
c.2347C= (p.Arg783=)
c.1627C= (p.Arg543=)
c.2278C= (p.Arg760=)
c.1105C= (p.Arg369=)
11g.68157999G>TCA475514751KMT5Bc.2134C>A (p.Arg712=)
n.2699C>A
c.*1971C>A (n.*1971C>A)
c.*2014C>A (n.*2014C>A)
c.1831C>A (p.Arg611=)
c.*1555C>A (n.*1555C>A)
c.2347C>A (p.Arg783=)
c.1627C>A (p.Arg543=)
c.2278C>A (p.Arg760=)
c.1105C>A (p.Arg369=)
gnomAD v4
11g.68158000T>ACA381587885KMT5Bc.2133A>T (p.Lys711Asn)
n.2698A>T
c.*1970A>T (n.*1970A>T)
c.*2013A>T (n.*2013A>T)
c.1830A>T (p.Lys610Asn)
c.*1554A>T (n.*1554A>T)
c.2346A>T (p.Lys782Asn)
c.1626A>T (p.Lys542Asn)
c.2277A>T (p.Lys759Asn)
c.1104A>T (p.Lys368Asn)
11g.68158000T>CCA475514752KMT5Bc.2133A>G (p.Lys711=)
n.2698A>G
c.*1970A>G (n.*1970A>G)
c.*2013A>G (n.*2013A>G)
c.1830A>G (p.Lys610=)
c.*1554A>G (n.*1554A>G)
c.2346A>G (p.Lys782=)
c.1626A>G (p.Lys542=)
c.2277A>G (p.Lys759=)
c.1104A>G (p.Lys368=)
11g.68158000T>GCA381587888KMT5Bc.2133A>C (p.Lys711Asn)
n.2698A>C
c.*1970A>C (n.*1970A>C)
c.*2013A>C (n.*2013A>C)
c.1830A>C (p.Lys610Asn)
c.*1554A>C (n.*1554A>C)
c.2346A>C (p.Lys782Asn)
c.1626A>C (p.Lys542Asn)
c.2277A>C (p.Lys759Asn)
c.1104A>C (p.Lys368Asn)
11g.68158001T>ACA381587891KMT5Bc.2132A>T (p.Lys711Ile)
n.2697A>T
c.*1969A>T (n.*1969A>T)
c.*2012A>T (n.*2012A>T)
c.1829A>T (p.Lys610Ile)
c.*1553A>T (n.*1553A>T)
c.2345A>T (p.Lys782Ile)
c.1625A>T (p.Lys542Ile)
c.2276A>T (p.Lys759Ile)
c.1103A>T (p.Lys368Ile)
11g.68158001T>CCA381587894KMT5Bc.2132A>G (p.Lys711Arg)
n.2697A>G
c.*1969A>G (n.*1969A>G)
c.*2012A>G (n.*2012A>G)
c.1829A>G (p.Lys610Arg)
c.*1553A>G (n.*1553A>G)
c.2345A>G (p.Lys782Arg)
c.1625A>G (p.Lys542Arg)
c.2276A>G (p.Lys759Arg)
c.1103A>G (p.Lys368Arg)
11g.68158001T>GCA381587897KMT5Bc.2132A>C (p.Lys711Thr)
n.2697A>C
c.*1969A>C (n.*1969A>C)
c.*2012A>C (n.*2012A>C)
c.1829A>C (p.Lys610Thr)
c.*1553A>C (n.*1553A>C)
c.2345A>C (p.Lys782Thr)
c.1625A>C (p.Lys542Thr)
c.2276A>C (p.Lys759Thr)
c.1103A>C (p.Lys368Thr)
11g.68158002T>ACA381587900KMT5Bc.2131A>T (p.Lys711Ter)
n.2696A>T
c.*1968A>T (n.*1968A>T)
c.*2011A>T (n.*2011A>T)
c.1828A>T (p.Lys610Ter)
c.*1552A>T (n.*1552A>T)
c.2344A>T (p.Lys782Ter)
c.1624A>T (p.Lys542Ter)
c.2275A>T (p.Lys759Ter)
c.1102A>T (p.Lys368Ter)
11g.68158002T>CCA381587902KMT5Bc.2131A>G (p.Lys711Glu)
n.2696A>G
c.*1968A>G (n.*1968A>G)
c.*2011A>G (n.*2011A>G)
c.1828A>G (p.Lys610Glu)
c.*1552A>G (n.*1552A>G)
c.2344A>G (p.Lys782Glu)
c.1624A>G (p.Lys542Glu)
c.2275A>G (p.Lys759Glu)
c.1102A>G (p.Lys368Glu)
11g.68158002T>GCA381587905KMT5Bc.2131A>C (p.Lys711Gln)
n.2696A>C
c.*1968A>C (n.*1968A>C)
c.*2011A>C (n.*2011A>C)
c.1828A>C (p.Lys610Gln)
c.*1552A>C (n.*1552A>C)
c.2344A>C (p.Lys782Gln)
c.1624A>C (p.Lys542Gln)
c.2275A>C (p.Lys759Gln)
c.1102A>C (p.Lys368Gln)
11g.68158003T>ACA475514753KMT5Bc.2130A>T (p.Leu710=)
n.2695A>T
c.*1967A>T (n.*1967A>T)
c.*2010A>T (n.*2010A>T)
c.1827A>T (p.Leu609=)
c.*1551A>T (n.*1551A>T)
c.2343A>T (p.Leu781=)
c.1623A>T (p.Leu541=)
c.2274A>T (p.Leu758=)
c.1101A>T (p.Leu367=)
11g.68158003T>CCA475514754KMT5Bc.2130A>G (p.Leu710=)
n.2695A>G
c.*1967A>G (n.*1967A>G)
c.*2010A>G (n.*2010A>G)
c.1827A>G (p.Leu609=)
c.*1551A>G (n.*1551A>G)
c.2343A>G (p.Leu781=)
c.1623A>G (p.Leu541=)
c.2274A>G (p.Leu758=)
c.1101A>G (p.Leu367=)
11g.68158003T>GCA475514755KMT5Bc.2130A>C (p.Leu710=)
n.2695A>C
c.*1967A>C (n.*1967A>C)
c.*2010A>C (n.*2010A>C)
c.1827A>C (p.Leu609=)
c.*1551A>C (n.*1551A>C)
c.2343A>C (p.Leu781=)
c.1623A>C (p.Leu541=)
c.2274A>C (p.Leu758=)
c.1101A>C (p.Leu367=)
11g.68158004A>CCA381587910KMT5Bc.2129T>G (p.Leu710Arg)
n.2694T>G
c.*1966T>G (n.*1966T>G)
c.*2009T>G (n.*2009T>G)
c.1826T>G (p.Leu609Arg)
c.*1550T>G (n.*1550T>G)
c.2342T>G (p.Leu781Arg)
c.1622T>G (p.Leu541Arg)
c.2273T>G (p.Leu758Arg)
c.1100T>G (p.Leu367Arg)
11g.68158004A>GCA381587909KMT5Bc.2129T>C (p.Leu710Pro)
n.2694T>C
c.*1966T>C (n.*1966T>C)
c.*2009T>C (n.*2009T>C)
c.1826T>C (p.Leu609Pro)
c.*1550T>C (n.*1550T>C)
c.2342T>C (p.Leu781Pro)
c.1622T>C (p.Leu541Pro)
c.2273T>C (p.Leu758Pro)
c.1100T>C (p.Leu367Pro)
11g.68158004A>TCA381587908KMT5Bc.2129T>A (p.Leu710Gln)
n.2694T>A
c.*1966T>A (n.*1966T>A)
c.*2009T>A (n.*2009T>A)
c.1826T>A (p.Leu609Gln)
c.*1550T>A (n.*1550T>A)
c.2342T>A (p.Leu781Gln)
c.1622T>A (p.Leu541Gln)
c.2273T>A (p.Leu758Gln)
c.1100T>A (p.Leu367Gln)
11g.68158005G>ACA475514756KMT5Bc.2128C>T (p.Leu710=)
n.2693C>T
c.*1965C>T (n.*1965C>T)
c.*2008C>T (n.*2008C>T)
c.1825C>T (p.Leu609=)
c.*1549C>T (n.*1549C>T)
c.2341C>T (p.Leu781=)
c.1621C>T (p.Leu541=)
c.2272C>T (p.Leu758=)
c.1099C>T (p.Leu367=)
11g.68158005G>CCA381587914KMT5Bc.2128C>G (p.Leu710Val)
n.2693C>G
c.*1965C>G (n.*1965C>G)
c.*2008C>G (n.*2008C>G)
c.1825C>G (p.Leu609Val)
c.*1549C>G (n.*1549C>G)
c.2341C>G (p.Leu781Val)
c.1621C>G (p.Leu541Val)
c.2272C>G (p.Leu758Val)
c.1099C>G (p.Leu367Val)
11g.68158005G>TCA381587917KMT5Bc.2128C>A (p.Leu710Ile)
n.2693C>A
c.*1965C>A (n.*1965C>A)
c.*2008C>A (n.*2008C>A)
c.1825C>A (p.Leu609Ile)
c.*1549C>A (n.*1549C>A)
c.2341C>A (p.Leu781Ile)
c.1621C>A (p.Leu541Ile)
c.2272C>A (p.Leu758Ile)
c.1099C>A (p.Leu367Ile)
11g.68158006C>ACA381587919KMT5Bc.2127G>T (p.Gln709His)
n.2692G>T
c.*1964G>T (n.*1964G>T)
c.*2007G>T (n.*2007G>T)
c.1824G>T (p.Gln608His)
c.*1548G>T (n.*1548G>T)
c.2340G>T (p.Gln780His)
c.1620G>T (p.Gln540His)
c.2271G>T (p.Gln757His)
c.1098G>T (p.Gln366His)
11g.68158006C=CA1980500396KMT5Bc.2127G= (p.Gln709=)
n.2692G=
c.*1964G= (n.*1964G=)
c.*2007G= (n.*2007G=)
c.1824G= (p.Gln608=)
c.*1548G= (n.*1548G=)
c.2340G= (p.Gln780=)
c.1620G= (p.Gln540=)
c.2271G= (p.Gln757=)
c.1098G= (p.Gln366=)
11g.68158006C>GCA381587920KMT5Bc.2127G>C (p.Gln709His)
n.2692G>C
c.*1964G>C (n.*1964G>C)
c.*2007G>C (n.*2007G>C)
c.1824G>C (p.Gln608His)
c.*1548G>C (n.*1548G>C)
c.2340G>C (p.Gln780His)
c.1620G>C (p.Gln540His)
c.2271G>C (p.Gln757His)
c.1098G>C (p.Gln366His)
11g.68158006C>TCA475514757KMT5Bc.2127G>A (p.Gln709=)
n.2692G>A
c.*1964G>A (n.*1964G>A)
c.*2007G>A (n.*2007G>A)
c.1824G>A (p.Gln608=)
c.*1548G>A (n.*1548G>A)
c.2340G>A (p.Gln780=)
c.1620G>A (p.Gln540=)
c.2271G>A (p.Gln757=)
c.1098G>A (p.Gln366=)
dbSNP gnomAD v4
11g.68158007T>ACA381587922KMT5Bc.2126A>T (p.Gln709Leu)
n.2691A>T
c.*1963A>T (n.*1963A>T)
c.*2006A>T (n.*2006A>T)
c.1823A>T (p.Gln608Leu)
c.*1547A>T (n.*1547A>T)
c.2339A>T (p.Gln780Leu)
c.1619A>T (p.Gln540Leu)
c.2270A>T (p.Gln757Leu)
c.1097A>T (p.Gln366Leu)
11g.68158007T>CCA381587924KMT5Bc.2126A>G (p.Gln709Arg)
n.2691A>G
c.*1963A>G (n.*1963A>G)
c.*2006A>G (n.*2006A>G)
c.1823A>G (p.Gln608Arg)
c.*1547A>G (n.*1547A>G)
c.2339A>G (p.Gln780Arg)
c.1619A>G (p.Gln540Arg)
c.2270A>G (p.Gln757Arg)
c.1097A>G (p.Gln366Arg)
dbSNP gnomAD v3 gnomAD v4
11g.68158007T>GCA381587927KMT5Bc.2126A>C (p.Gln709Pro)
n.2691A>C
c.*1963A>C (n.*1963A>C)
c.*2006A>C (n.*2006A>C)
c.1823A>C (p.Gln608Pro)
c.*1547A>C (n.*1547A>C)
c.2339A>C (p.Gln780Pro)
c.1619A>C (p.Gln540Pro)
c.2270A>C (p.Gln757Pro)
c.1097A>C (p.Gln366Pro)
11g.68158007T=CA1980500398KMT5Bc.2126A= (p.Gln709=)
n.2691A=
c.*1963A= (n.*1963A=)
c.*2006A= (n.*2006A=)
c.1823A= (p.Gln608=)
c.*1547A= (n.*1547A=)
c.2339A= (p.Gln780=)
c.1619A= (p.Gln540=)
c.2270A= (p.Gln757=)
c.1097A= (p.Gln366=)
11g.68158008G>ACA381587930KMT5Bc.2125C>T (p.Gln709Ter)
n.2690C>T
c.*1962C>T (n.*1962C>T)
c.*2005C>T (n.*2005C>T)
c.1822C>T (p.Gln608Ter)
c.*1546C>T (n.*1546C>T)
c.2338C>T (p.Gln780Ter)
c.1618C>T (p.Gln540Ter)
c.2269C>T (p.Gln757Ter)
c.1096C>T (p.Gln366Ter)
11g.68158008G>CCA381587931KMT5Bc.2125C>G (p.Gln709Glu)
n.2690C>G
c.*1962C>G (n.*1962C>G)
c.*2005C>G (n.*2005C>G)
c.1822C>G (p.Gln608Glu)
c.*1546C>G (n.*1546C>G)
c.2338C>G (p.Gln780Glu)
c.1618C>G (p.Gln540Glu)
c.2269C>G (p.Gln757Glu)
c.1096C>G (p.Gln366Glu)
11g.68158008G>TCA381587934KMT5Bc.2125C>A (p.Gln709Lys)
n.2690C>A
c.*1962C>A (n.*1962C>A)
c.*2005C>A (n.*2005C>A)
c.1822C>A (p.Gln608Lys)
c.*1546C>A (n.*1546C>A)
c.2338C>A (p.Gln780Lys)
c.1618C>A (p.Gln540Lys)
c.2269C>A (p.Gln757Lys)
c.1096C>A (p.Gln366Lys)
11g.68158009G>ACA475514758KMT5Bc.2124C>T (p.Ile708=)
n.2689C>T
c.*1961C>T (n.*1961C>T)
c.*2004C>T (n.*2004C>T)
c.1821C>T (p.Ile607=)
c.*1545C>T (n.*1545C>T)
c.2337C>T (p.Ile779=)
c.1617C>T (p.Ile539=)
c.2268C>T (p.Ile756=)
c.1095C>T (p.Ile365=)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.68158009G>CCA381587937KMT5Bc.2124C>G (p.Ile708Met)
n.2689C>G
c.*1961C>G (n.*1961C>G)
c.*2004C>G (n.*2004C>G)
c.1821C>G (p.Ile607Met)
c.*1545C>G (n.*1545C>G)
c.2337C>G (p.Ile779Met)
c.1617C>G (p.Ile539Met)
c.2268C>G (p.Ile756Met)
c.1095C>G (p.Ile365Met)
11g.68158009G=CA1980500403KMT5Bc.2124C= (p.Ile708=)
n.2689C=
c.*1961C= (n.*1961C=)
c.*2004C= (n.*2004C=)
c.1821C= (p.Ile607=)
c.*1545C= (n.*1545C=)
c.2337C= (p.Ile779=)
c.1617C= (p.Ile539=)
c.2268C= (p.Ile756=)
c.1095C= (p.Ile365=)
11g.68158009G>TCA475514759KMT5Bc.2124C>A (p.Ile708=)
n.2689C>A
c.*1961C>A (n.*1961C>A)
c.*2004C>A (n.*2004C>A)
c.1821C>A (p.Ile607=)
c.*1545C>A (n.*1545C>A)
c.2337C>A (p.Ile779=)
c.1617C>A (p.Ile539=)
c.2268C>A (p.Ile756=)
c.1095C>A (p.Ile365=)
11g.68158010A>CCA381587942KMT5Bc.2123T>G (p.Ile708Ser)
n.2688T>G
c.*1960T>G (n.*1960T>G)
c.*2003T>G (n.*2003T>G)
c.1820T>G (p.Ile607Ser)
c.*1544T>G (n.*1544T>G)
c.2336T>G (p.Ile779Ser)
c.1616T>G (p.Ile539Ser)
c.2267T>G (p.Ile756Ser)
c.1094T>G (p.Ile365Ser)
11g.68158010A>GCA381587944KMT5Bc.2123T>C (p.Ile708Thr)
n.2688T>C
c.*1960T>C (n.*1960T>C)
c.*2003T>C (n.*2003T>C)
c.1820T>C (p.Ile607Thr)
c.*1544T>C (n.*1544T>C)
c.2336T>C (p.Ile779Thr)
c.1616T>C (p.Ile539Thr)
c.2267T>C (p.Ile756Thr)
c.1094T>C (p.Ile365Thr)
11g.68158010A>TCA381587939KMT5Bc.2123T>A (p.Ile708Asn)
n.2688T>A
c.*1960T>A (n.*1960T>A)
c.*2003T>A (n.*2003T>A)
c.1820T>A (p.Ile607Asn)
c.*1544T>A (n.*1544T>A)
c.2336T>A (p.Ile779Asn)
c.1616T>A (p.Ile539Asn)
c.2267T>A (p.Ile756Asn)
c.1094T>A (p.Ile365Asn)
11g.68158011T>ACA381587949KMT5Bc.2122A>T (p.Ile708Phe)
n.2687A>T
c.*1959A>T (n.*1959A>T)
c.*2002A>T (n.*2002A>T)
c.1819A>T (p.Ile607Phe)
c.*1543A>T (n.*1543A>T)
c.2335A>T (p.Ile779Phe)
c.1615A>T (p.Ile539Phe)
c.2266A>T (p.Ile756Phe)
c.1093A>T (p.Ile365Phe)
11g.68158011T>CCA381587950KMT5Bc.2122A>G (p.Ile708Val)
n.2687A>G
c.*1959A>G (n.*1959A>G)
c.*2002A>G (n.*2002A>G)
c.1819A>G (p.Ile607Val)
c.*1543A>G (n.*1543A>G)
c.2335A>G (p.Ile779Val)
c.1615A>G (p.Ile539Val)
c.2266A>G (p.Ile756Val)
c.1093A>G (p.Ile365Val)
gnomAD v4
11g.68158011T>GCA381587953KMT5Bc.2122A>C (p.Ile708Leu)
n.2687A>C
c.*1959A>C (n.*1959A>C)
c.*2002A>C (n.*2002A>C)
c.1819A>C (p.Ile607Leu)
c.*1543A>C (n.*1543A>C)
c.2335A>C (p.Ile779Leu)
c.1615A>C (p.Ile539Leu)
c.2266A>C (p.Ile756Leu)
c.1093A>C (p.Ile365Leu)
11g.68158012T>ACA381587957KMT5Bc.2121A>T (p.Lys707Asn)
n.2686A>T
c.*1958A>T (n.*1958A>T)
c.*2001A>T (n.*2001A>T)
c.1818A>T (p.Lys606Asn)
c.*1542A>T (n.*1542A>T)
c.2334A>T (p.Lys778Asn)
c.1614A>T (p.Lys538Asn)
c.2265A>T (p.Lys755Asn)
c.1092A>T (p.Lys364Asn)
11g.68158012T>CCA475514760KMT5Bc.2121A>G (p.Lys707=)
n.2686A>G
c.*1958A>G (n.*1958A>G)
c.*2001A>G (n.*2001A>G)
c.1818A>G (p.Lys606=)
c.*1542A>G (n.*1542A>G)
c.2334A>G (p.Lys778=)
c.1614A>G (p.Lys538=)
c.2265A>G (p.Lys755=)
c.1092A>G (p.Lys364=)
11g.68158012T>GCA381587961KMT5Bc.2121A>C (p.Lys707Asn)
n.2686A>C
c.*1958A>C (n.*1958A>C)
c.*2001A>C (n.*2001A>C)
c.1818A>C (p.Lys606Asn)
c.*1542A>C (n.*1542A>C)
c.2334A>C (p.Lys778Asn)
c.1614A>C (p.Lys538Asn)
c.2265A>C (p.Lys755Asn)
c.1092A>C (p.Lys364Asn)
11g.68158013T>ACA381587962KMT5Bc.2120A>T (p.Lys707Ile)
n.2685A>T
c.*1957A>T (n.*1957A>T)
c.*2000A>T (n.*2000A>T)
c.1817A>T (p.Lys606Ile)
c.*1541A>T (n.*1541A>T)
c.2333A>T (p.Lys778Ile)
c.1613A>T (p.Lys538Ile)
c.2264A>T (p.Lys755Ile)
c.1091A>T (p.Lys364Ile)
11g.68158013T>CCA381587965KMT5Bc.2120A>G (p.Lys707Arg)
n.2685A>G
c.*1957A>G (n.*1957A>G)
c.*2000A>G (n.*2000A>G)
c.1817A>G (p.Lys606Arg)
c.*1541A>G (n.*1541A>G)
c.2333A>G (p.Lys778Arg)
c.1613A>G (p.Lys538Arg)
c.2264A>G (p.Lys755Arg)
c.1091A>G (p.Lys364Arg)
COSMIC COSMIC
11g.68158013T>GCA381587968KMT5Bc.2120A>C (p.Lys707Thr)
n.2685A>C
c.*1957A>C (n.*1957A>C)
c.*2000A>C (n.*2000A>C)
c.1817A>C (p.Lys606Thr)
c.*1541A>C (n.*1541A>C)
c.2333A>C (p.Lys778Thr)
c.1613A>C (p.Lys538Thr)
c.2264A>C (p.Lys755Thr)
c.1091A>C (p.Lys364Thr)
11g.68158014T>ACA381587971KMT5Bc.2119A>T (p.Lys707Ter)
n.2684A>T
c.*1956A>T (n.*1956A>T)
c.*1999A>T (n.*1999A>T)
c.1816A>T (p.Lys606Ter)
c.*1540A>T (n.*1540A>T)
c.2332A>T (p.Lys778Ter)
c.1612A>T (p.Lys538Ter)
c.2263A>T (p.Lys755Ter)
c.1090A>T (p.Lys364Ter)
11g.68158014T>CCA381587974KMT5Bc.2119A>G (p.Lys707Glu)
n.2684A>G
c.*1956A>G (n.*1956A>G)
c.*1999A>G (n.*1999A>G)
c.1816A>G (p.Lys606Glu)
c.*1540A>G (n.*1540A>G)
c.2332A>G (p.Lys778Glu)
c.1612A>G (p.Lys538Glu)
c.2263A>G (p.Lys755Glu)
c.1090A>G (p.Lys364Glu)
gnomAD v4
11g.68158014T>GCA381587977KMT5Bc.2119A>C (p.Lys707Gln)
n.2684A>C
c.*1956A>C (n.*1956A>C)
c.*1999A>C (n.*1999A>C)
c.1816A>C (p.Lys606Gln)
c.*1540A>C (n.*1540A>C)
c.2332A>C (p.Lys778Gln)
c.1612A>C (p.Lys538Gln)
c.2263A>C (p.Lys755Gln)
c.1090A>C (p.Lys364Gln)
dbSNP gnomAD v3 gnomAD v4
11g.68158014T=CA1980500408KMT5Bc.2119A= (p.Lys707=)
n.2684A=
c.*1956A= (n.*1956A=)
c.*1999A= (n.*1999A=)
c.1816A= (p.Lys606=)
c.*1540A= (n.*1540A=)
c.2332A= (p.Lys778=)
c.1612A= (p.Lys538=)
c.2263A= (p.Lys755=)
c.1090A= (p.Lys364=)
11g.68158015T>ACA381587980KMT5Bc.2118A>T (p.Leu706Phe)
n.2683A>T
c.*1955A>T (n.*1955A>T)
c.*1998A>T (n.*1998A>T)
c.1815A>T (p.Leu605Phe)
c.*1539A>T (n.*1539A>T)
c.2331A>T (p.Leu777Phe)
c.1611A>T (p.Leu537Phe)
c.2262A>T (p.Leu754Phe)
c.1089A>T (p.Leu363Phe)
dbSNP
11g.68158015T>CCA6148023KMT5Bc.2118A>G (p.Leu706=)
n.2683A>G
c.*1955A>G (n.*1955A>G)
c.*1998A>G (n.*1998A>G)
c.1815A>G (p.Leu605=)
c.*1539A>G (n.*1539A>G)
c.2331A>G (p.Leu777=)
c.1611A>G (p.Leu537=)
c.2262A>G (p.Leu754=)
c.1089A>G (p.Leu363=)
dbSNP ExAC
11g.68158015T>GCA381587978KMT5Bc.2118A>C (p.Leu706Phe)
n.2683A>C
c.*1955A>C (n.*1955A>C)
c.*1998A>C (n.*1998A>C)
c.1815A>C (p.Leu605Phe)
c.*1539A>C (n.*1539A>C)
c.2331A>C (p.Leu777Phe)
c.1611A>C (p.Leu537Phe)
c.2262A>C (p.Leu754Phe)
c.1089A>C (p.Leu363Phe)
11g.68158015T=CA1980500413KMT5Bc.2118A= (p.Leu706=)
n.2683A=
c.*1955A= (n.*1955A=)
c.*1998A= (n.*1998A=)
c.1815A= (p.Leu605=)
c.*1539A= (n.*1539A=)
c.2331A= (p.Leu777=)
c.1611A= (p.Leu537=)
c.2262A= (p.Leu754=)
c.1089A= (p.Leu363=)
11g.68158016A>CCA381587984KMT5Bc.2117T>G (p.Leu706Ter)
n.2682T>G
c.*1954T>G (n.*1954T>G)
c.*1997T>G (n.*1997T>G)
c.1814T>G (p.Leu605Ter)
c.*1538T>G (n.*1538T>G)
c.2330T>G (p.Leu777Ter)
c.1610T>G (p.Leu537Ter)
c.2261T>G (p.Leu754Ter)
c.1088T>G (p.Leu363Ter)
11g.68158016A>GCA381587987KMT5Bc.2117T>C (p.Leu706Ser)
n.2682T>C
c.*1954T>C (n.*1954T>C)
c.*1997T>C (n.*1997T>C)
c.1814T>C (p.Leu605Ser)
c.*1538T>C (n.*1538T>C)
c.2330T>C (p.Leu777Ser)
c.1610T>C (p.Leu537Ser)
c.2261T>C (p.Leu754Ser)
c.1088T>C (p.Leu363Ser)
gnomAD v4
11g.68158016A>TCA381587989KMT5Bc.2117T>A (p.Leu706Ter)
n.2682T>A
c.*1954T>A (n.*1954T>A)
c.*1997T>A (n.*1997T>A)
c.1814T>A (p.Leu605Ter)
c.*1538T>A (n.*1538T>A)
c.2330T>A (p.Leu777Ter)
c.1610T>A (p.Leu537Ter)
c.2261T>A (p.Leu754Ter)
c.1088T>A (p.Leu363Ter)
11g.68158017A>CCA381587993KMT5Bc.2116T>G (p.Leu706Val)
n.2681T>G
c.*1953T>G (n.*1953T>G)
c.*1996T>G (n.*1996T>G)
c.1813T>G (p.Leu605Val)
c.*1537T>G (n.*1537T>G)
c.2329T>G (p.Leu777Val)
c.1609T>G (p.Leu537Val)
c.2260T>G (p.Leu754Val)
c.1087T>G (p.Leu363Val)
11g.68158017A>GCA475514761KMT5Bc.2116T>C (p.Leu706=)
n.2681T>C
c.*1953T>C (n.*1953T>C)
c.*1996T>C (n.*1996T>C)
c.1813T>C (p.Leu605=)
c.*1537T>C (n.*1537T>C)
c.2329T>C (p.Leu777=)
c.1609T>C (p.Leu537=)
c.2260T>C (p.Leu754=)
c.1087T>C (p.Leu363=)
11g.68158017A>TCA381587996KMT5Bc.2116T>A (p.Leu706Ile)
n.2681T>A
c.*1953T>A (n.*1953T>A)
c.*1996T>A (n.*1996T>A)
c.1813T>A (p.Leu605Ile)
c.*1537T>A (n.*1537T>A)
c.2329T>A (p.Leu777Ile)
c.1609T>A (p.Leu537Ile)
c.2260T>A (p.Leu754Ile)
c.1087T>A (p.Leu363Ile)
11g.68158018T>ACA381588000KMT5Bc.2115A>T (p.Lys705Asn)
n.2680A>T
c.*1952A>T (n.*1952A>T)
c.*1995A>T (n.*1995A>T)
c.1812A>T (p.Lys604Asn)
c.*1536A>T (n.*1536A>T)
c.2328A>T (p.Lys776Asn)
c.1608A>T (p.Lys536Asn)
c.2259A>T (p.Lys753Asn)
c.1086A>T (p.Lys362Asn)
gnomAD v4
11g.68158018T>CCA224248013KMT5Bc.2115A>G (p.Lys705=)
n.2680A>G
c.*1952A>G (n.*1952A>G)
c.*1995A>G (n.*1995A>G)
c.1812A>G (p.Lys604=)
c.*1536A>G (n.*1536A>G)
c.2328A>G (p.Lys776=)
c.1608A>G (p.Lys536=)
c.2259A>G (p.Lys753=)
c.1086A>G (p.Lys362=)
dbSNP
11g.68158018T>GCA381587998KMT5Bc.2115A>C (p.Lys705Asn)
n.2680A>C
c.*1952A>C (n.*1952A>C)
c.*1995A>C (n.*1995A>C)
c.1812A>C (p.Lys604Asn)
c.*1536A>C (n.*1536A>C)
c.2328A>C (p.Lys776Asn)
c.1608A>C (p.Lys536Asn)
c.2259A>C (p.Lys753Asn)
c.1086A>C (p.Lys362Asn)
11g.68158018T=CA1980500415KMT5Bc.2115A= (p.Lys705=)
n.2680A=
c.*1952A= (n.*1952A=)
c.*1995A= (n.*1995A=)
c.1812A= (p.Lys604=)
c.*1536A= (n.*1536A=)
c.2328A= (p.Lys776=)
c.1608A= (p.Lys536=)
c.2259A= (p.Lys753=)
c.1086A= (p.Lys362=)
11g.68158019T>ACA381588003KMT5Bc.2114A>T (p.Lys705Ile)
n.2679A>T
c.*1951A>T (n.*1951A>T)
c.*1994A>T (n.*1994A>T)
c.1811A>T (p.Lys604Ile)
c.*1535A>T (n.*1535A>T)
c.2327A>T (p.Lys776Ile)
c.1607A>T (p.Lys536Ile)
c.2258A>T (p.Lys753Ile)
c.1085A>T (p.Lys362Ile)
11g.68158019T>CCA381588005KMT5Bc.2114A>G (p.Lys705Arg)
n.2679A>G
c.*1951A>G (n.*1951A>G)
c.*1994A>G (n.*1994A>G)
c.1811A>G (p.Lys604Arg)
c.*1535A>G (n.*1535A>G)
c.2327A>G (p.Lys776Arg)
c.1607A>G (p.Lys536Arg)
c.2258A>G (p.Lys753Arg)
c.1085A>G (p.Lys362Arg)
11g.68158019T>GCA381588006KMT5Bc.2114A>C (p.Lys705Thr)
n.2679A>C
c.*1951A>C (n.*1951A>C)
c.*1994A>C (n.*1994A>C)
c.1811A>C (p.Lys604Thr)
c.*1535A>C (n.*1535A>C)
c.2327A>C (p.Lys776Thr)
c.1607A>C (p.Lys536Thr)
c.2258A>C (p.Lys753Thr)
c.1085A>C (p.Lys362Thr)
gnomAD v4
11g.68158020T>ACA381588007KMT5Bc.2113A>T (p.Lys705Ter)
n.2678A>T
c.*1950A>T (n.*1950A>T)
c.*1993A>T (n.*1993A>T)
c.1810A>T (p.Lys604Ter)
c.*1534A>T (n.*1534A>T)
c.2326A>T (p.Lys776Ter)
c.1606A>T (p.Lys536Ter)
c.2257A>T (p.Lys753Ter)
c.1084A>T (p.Lys362Ter)
11g.68158020T>CCA381588008KMT5Bc.2113A>G (p.Lys705Glu)
n.2678A>G
c.*1950A>G (n.*1950A>G)
c.*1993A>G (n.*1993A>G)
c.1810A>G (p.Lys604Glu)
c.*1534A>G (n.*1534A>G)
c.2326A>G (p.Lys776Glu)
c.1606A>G (p.Lys536Glu)
c.2257A>G (p.Lys753Glu)
c.1084A>G (p.Lys362Glu)
COSMIC
11g.68158020T>GCA381588009KMT5Bc.2113A>C (p.Lys705Gln)
n.2678A>C
c.*1950A>C (n.*1950A>C)
c.*1993A>C (n.*1993A>C)
c.1810A>C (p.Lys604Gln)
c.*1534A>C (n.*1534A>C)
c.2326A>C (p.Lys776Gln)
c.1606A>C (p.Lys536Gln)
c.2257A>C (p.Lys753Gln)
c.1084A>C (p.Lys362Gln)
11g.68158021T>ACA475514762KMT5Bc.2112A>T (p.Thr704=)
n.2677A>T
c.*1949A>T (n.*1949A>T)
c.*1992A>T (n.*1992A>T)
c.1809A>T (p.Thr603=)
c.*1533A>T (n.*1533A>T)
c.2325A>T (p.Thr775=)
c.1605A>T (p.Thr535=)
c.2256A>T (p.Thr752=)
c.1083A>T (p.Thr361=)
11g.68158021T>CCA475514763KMT5Bc.2112A>G (p.Thr704=)
n.2677A>G
c.*1949A>G (n.*1949A>G)
c.*1992A>G (n.*1992A>G)
c.1809A>G (p.Thr603=)
c.*1533A>G (n.*1533A>G)
c.2325A>G (p.Thr775=)
c.1605A>G (p.Thr535=)
c.2256A>G (p.Thr752=)
c.1083A>G (p.Thr361=)
11g.68158021T>GCA475514764KMT5Bc.2112A>C (p.Thr704=)
n.2677A>C
c.*1949A>C (n.*1949A>C)
c.*1992A>C (n.*1992A>C)
c.1809A>C (p.Thr603=)
c.*1533A>C (n.*1533A>C)
c.2325A>C (p.Thr775=)
c.1605A>C (p.Thr535=)
c.2256A>C (p.Thr752=)
c.1083A>C (p.Thr361=)
11g.68158022G>ACA381588016KMT5Bc.2111C>T (p.Thr704Ile)
n.2676C>T
c.*1948C>T (n.*1948C>T)
c.*1991C>T (n.*1991C>T)
c.1808C>T (p.Thr603Ile)
c.*1532C>T (n.*1532C>T)
c.2324C>T (p.Thr775Ile)
c.1604C>T (p.Thr535Ile)
c.2255C>T (p.Thr752Ile)
c.1082C>T (p.Thr361Ile)
11g.68158022G>CCA381588014KMT5Bc.2111C>G (p.Thr704Arg)
n.2676C>G
c.*1948C>G (n.*1948C>G)
c.*1991C>G (n.*1991C>G)
c.1808C>G (p.Thr603Arg)
c.*1532C>G (n.*1532C>G)
c.2324C>G (p.Thr775Arg)
c.1604C>G (p.Thr535Arg)
c.2255C>G (p.Thr752Arg)
c.1082C>G (p.Thr361Arg)
11g.68158022G>TCA381588012KMT5Bc.2111C>A (p.Thr704Lys)
n.2676C>A
c.*1948C>A (n.*1948C>A)
c.*1991C>A (n.*1991C>A)
c.1808C>A (p.Thr603Lys)
c.*1532C>A (n.*1532C>A)
c.2324C>A (p.Thr775Lys)
c.1604C>A (p.Thr535Lys)
c.2255C>A (p.Thr752Lys)
c.1082C>A (p.Thr361Lys)
11g.68158023T>ACA381588019KMT5Bc.2110A>T (p.Thr704Ser)
n.2675A>T
c.*1947A>T (n.*1947A>T)
c.*1990A>T (n.*1990A>T)
c.1807A>T (p.Thr603Ser)
c.*1531A>T (n.*1531A>T)
c.2323A>T (p.Thr775Ser)
c.1603A>T (p.Thr535Ser)
c.2254A>T (p.Thr752Ser)
c.1081A>T (p.Thr361Ser)
11g.68158023T>CCA381588024KMT5Bc.2110A>G (p.Thr704Ala)
n.2675A>G
c.*1947A>G (n.*1947A>G)
c.*1990A>G (n.*1990A>G)
c.1807A>G (p.Thr603Ala)
c.*1531A>G (n.*1531A>G)
c.2323A>G (p.Thr775Ala)
c.1603A>G (p.Thr535Ala)
c.2254A>G (p.Thr752Ala)
c.1081A>G (p.Thr361Ala)
11g.68158023T>GCA381588022KMT5Bc.2110A>C (p.Thr704Pro)
n.2675A>C
c.*1947A>C (n.*1947A>C)
c.*1990A>C (n.*1990A>C)
c.1807A>C (p.Thr603Pro)
c.*1531A>C (n.*1531A>C)
c.2323A>C (p.Thr775Pro)
c.1603A>C (p.Thr535Pro)
c.2254A>C (p.Thr752Pro)
c.1081A>C (p.Thr361Pro)
11g.68158024A>CCA475514765KMT5Bc.2109T>G (p.Ser703=)
n.2674T>G
c.*1946T>G (n.*1946T>G)
c.*1989T>G (n.*1989T>G)
c.1806T>G (p.Ser602=)
c.*1530T>G (n.*1530T>G)
c.2322T>G (p.Ser774=)
c.1602T>G (p.Ser534=)
c.2253T>G (p.Ser751=)
c.1080T>G (p.Ser360=)
11g.68158024A>GCA475514766KMT5Bc.2109T>C (p.Ser703=)
n.2674T>C
c.*1946T>C (n.*1946T>C)
c.*1989T>C (n.*1989T>C)
c.1806T>C (p.Ser602=)
c.*1530T>C (n.*1530T>C)
c.2322T>C (p.Ser774=)
c.1602T>C (p.Ser534=)
c.2253T>C (p.Ser751=)
c.1080T>C (p.Ser360=)
11g.68158024A>TCA475514767KMT5Bc.2109T>A (p.Ser703=)
n.2674T>A
c.*1946T>A (n.*1946T>A)
c.*1989T>A (n.*1989T>A)
c.1806T>A (p.Ser602=)
c.*1530T>A (n.*1530T>A)
c.2322T>A (p.Ser774=)
c.1602T>A (p.Ser534=)
c.2253T>A (p.Ser751=)
c.1080T>A (p.Ser360=)
11g.68158025G>ACA381588027KMT5Bc.2108C>T (p.Ser703Phe)
n.2673C>T
c.*1945C>T (n.*1945C>T)
c.*1988C>T (n.*1988C>T)
c.1805C>T (p.Ser602Phe)
c.*1529C>T (n.*1529C>T)
c.2321C>T (p.Ser774Phe)
c.1601C>T (p.Ser534Phe)
c.2252C>T (p.Ser751Phe)
c.1079C>T (p.Ser360Phe)
11g.68158025G>CCA381588030KMT5Bc.2108C>G (p.Ser703Cys)
n.2673C>G
c.*1945C>G (n.*1945C>G)
c.*1988C>G (n.*1988C>G)
c.1805C>G (p.Ser602Cys)
c.*1529C>G (n.*1529C>G)
c.2321C>G (p.Ser774Cys)
c.1601C>G (p.Ser534Cys)
c.2252C>G (p.Ser751Cys)
c.1079C>G (p.Ser360Cys)
dbSNP gnomAD v3 gnomAD v4
11g.68158025G=CA1980500431KMT5Bc.2108C= (p.Ser703=)
n.2673C=
c.*1945C= (n.*1945C=)
c.*1988C= (n.*1988C=)
c.1805C= (p.Ser602=)
c.*1529C= (n.*1529C=)
c.2321C= (p.Ser774=)
c.1601C= (p.Ser534=)
c.2252C= (p.Ser751=)
c.1079C= (p.Ser360=)
11g.68158025G>TCA381588033KMT5Bc.2108C>A (p.Ser703Tyr)
n.2673C>A
c.*1945C>A (n.*1945C>A)
c.*1988C>A (n.*1988C>A)
c.1805C>A (p.Ser602Tyr)
c.*1529C>A (n.*1529C>A)
c.2321C>A (p.Ser774Tyr)
c.1601C>A (p.Ser534Tyr)
c.2252C>A (p.Ser751Tyr)
c.1079C>A (p.Ser360Tyr)
11g.68158026A>CCA381588035KMT5Bc.2107T>G (p.Ser703Ala)
n.2672T>G
c.*1944T>G (n.*1944T>G)
c.*1987T>G (n.*1987T>G)
c.1804T>G (p.Ser602Ala)
c.*1528T>G (n.*1528T>G)
c.2320T>G (p.Ser774Ala)
c.1600T>G (p.Ser534Ala)
c.2251T>G (p.Ser751Ala)
c.1078T>G (p.Ser360Ala)
11g.68158026A>GCA381588038KMT5Bc.2107T>C (p.Ser703Pro)
n.2672T>C
c.*1944T>C (n.*1944T>C)
c.*1987T>C (n.*1987T>C)
c.1804T>C (p.Ser602Pro)
c.*1528T>C (n.*1528T>C)
c.2320T>C (p.Ser774Pro)
c.1600T>C (p.Ser534Pro)
c.2251T>C (p.Ser751Pro)
c.1078T>C (p.Ser360Pro)
11g.68158026A>TCA381588040KMT5Bc.2107T>A (p.Ser703Thr)
n.2672T>A
c.*1944T>A (n.*1944T>A)
c.*1987T>A (n.*1987T>A)
c.1804T>A (p.Ser602Thr)
c.*1528T>A (n.*1528T>A)
c.2320T>A (p.Ser774Thr)
c.1600T>A (p.Ser534Thr)
c.2251T>A (p.Ser751Thr)
c.1078T>A (p.Ser360Thr)
11g.68158026_68158028delCA2724554195KMT5Bc.2105_2107del (p.Ser702_Ser703delinsThr)
n.2670_2672del
c.*1942_*1944del (n.*1942_*1944del)
c.*1985_*1987del (n.*1985_*1987del)
c.1802_1804del (p.Ser601_Ser602delinsThr)
c.*1526_*1528del (n.*1526_*1528del)
c.2318_2320del (p.Ser773_Ser774delinsThr)
c.1598_1600del (p.Ser533_Ser534delinsThr)
c.2249_2251del (p.Ser750_Ser751delinsThr)
c.1076_1078del (p.Ser359_Ser360delinsThr)
dbSNP
11g.68158027A>CCA381588042KMT5Bc.2106T>G (p.Ser702Arg)
n.2671T>G
c.*1943T>G (n.*1943T>G)
c.*1986T>G (n.*1986T>G)
c.1803T>G (p.Ser601Arg)
c.*1527T>G (n.*1527T>G)
c.2319T>G (p.Ser773Arg)
c.1599T>G (p.Ser533Arg)
c.2250T>G (p.Ser750Arg)
c.1077T>G (p.Ser359Arg)
11g.68158027A>GCA475514769KMT5Bc.2106T>C (p.Ser702=)
n.2671T>C
c.*1943T>C (n.*1943T>C)
c.*1986T>C (n.*1986T>C)
c.1803T>C (p.Ser601=)
c.*1527T>C (n.*1527T>C)
c.2319T>C (p.Ser773=)
c.1599T>C (p.Ser533=)
c.2250T>C (p.Ser750=)
c.1077T>C (p.Ser359=)
gnomAD v4
11g.68158027A>TCA381588044KMT5Bc.2106T>A (p.Ser702Arg)
n.2671T>A
c.*1943T>A (n.*1943T>A)
c.*1986T>A (n.*1986T>A)
c.1803T>A (p.Ser601Arg)
c.*1527T>A (n.*1527T>A)
c.2319T>A (p.Ser773Arg)
c.1599T>A (p.Ser533Arg)
c.2250T>A (p.Ser750Arg)
c.1077T>A (p.Ser359Arg)
11g.68158028C>ACA381588047KMT5Bc.2105G>T (p.Ser702Ile)
n.2670G>T
c.*1942G>T (n.*1942G>T)
c.*1985G>T (n.*1985G>T)
c.1802G>T (p.Ser601Ile)
c.*1526G>T (n.*1526G>T)
c.2318G>T (p.Ser773Ile)
c.1598G>T (p.Ser533Ile)
c.2249G>T (p.Ser750Ile)
c.1076G>T (p.Ser359Ile)
11g.68158028C>GCA381588049KMT5Bc.2105G>C (p.Ser702Thr)
n.2670G>C
c.*1942G>C (n.*1942G>C)
c.*1985G>C (n.*1985G>C)
c.1802G>C (p.Ser601Thr)
c.*1526G>C (n.*1526G>C)
c.2318G>C (p.Ser773Thr)
c.1598G>C (p.Ser533Thr)
c.2249G>C (p.Ser750Thr)
c.1076G>C (p.Ser359Thr)
11g.68158028C>TCA381588052KMT5Bc.2105G>A (p.Ser702Asn)
n.2670G>A
c.*1942G>A (n.*1942G>A)
c.*1985G>A (n.*1985G>A)
c.1802G>A (p.Ser601Asn)
c.*1526G>A (n.*1526G>A)
c.2318G>A (p.Ser773Asn)
c.1598G>A (p.Ser533Asn)
c.2249G>A (p.Ser750Asn)
c.1076G>A (p.Ser359Asn)
11g.68158029T>ACA381588060KMT5Bc.2104A>T (p.Ser702Cys)
n.2669A>T
c.*1941A>T (n.*1941A>T)
c.*1984A>T (n.*1984A>T)
c.1801A>T (p.Ser601Cys)
c.*1525A>T (n.*1525A>T)
c.2317A>T (p.Ser773Cys)
c.1597A>T (p.Ser533Cys)
c.2248A>T (p.Ser750Cys)
c.1075A>T (p.Ser359Cys)
11g.68158029T>CCA381588056KMT5Bc.2104A>G (p.Ser702Gly)
n.2669A>G
c.*1941A>G (n.*1941A>G)
c.*1984A>G (n.*1984A>G)
c.1801A>G (p.Ser601Gly)
c.*1525A>G (n.*1525A>G)
c.2317A>G (p.Ser773Gly)
c.1597A>G (p.Ser533Gly)
c.2248A>G (p.Ser750Gly)
c.1075A>G (p.Ser359Gly)
11g.68158029T>GCA381588059KMT5Bc.2104A>C (p.Ser702Arg)
n.2669A>C
c.*1941A>C (n.*1941A>C)
c.*1984A>C (n.*1984A>C)
c.1801A>C (p.Ser601Arg)
c.*1525A>C (n.*1525A>C)
c.2317A>C (p.Ser773Arg)
c.1597A>C (p.Ser533Arg)
c.2248A>C (p.Ser750Arg)
c.1075A>C (p.Ser359Arg)
11g.68158030A>CCA381588063KMT5Bc.2103T>G (p.Ser701Arg)
n.2668T>G
c.*1940T>G (n.*1940T>G)
c.*1983T>G (n.*1983T>G)
c.1800T>G (p.Ser600Arg)
c.*1524T>G (n.*1524T>G)
c.2316T>G (p.Ser772Arg)
c.1596T>G (p.Ser532Arg)
c.2247T>G (p.Ser749Arg)
c.1074T>G (p.Ser358Arg)
11g.68158030A>GCA475514770KMT5Bc.2103T>C (p.Ser701=)
n.2668T>C
c.*1940T>C (n.*1940T>C)
c.*1983T>C (n.*1983T>C)
c.1800T>C (p.Ser600=)
c.*1524T>C (n.*1524T>C)
c.2316T>C (p.Ser772=)
c.1596T>C (p.Ser532=)
c.2247T>C (p.Ser749=)
c.1074T>C (p.Ser358=)
11g.68158030A>TCA381588064KMT5Bc.2103T>A (p.Ser701Arg)
n.2668T>A
c.*1940T>A (n.*1940T>A)
c.*1983T>A (n.*1983T>A)
c.1800T>A (p.Ser600Arg)
c.*1524T>A (n.*1524T>A)
c.2316T>A (p.Ser772Arg)
c.1596T>A (p.Ser532Arg)
c.2247T>A (p.Ser749Arg)
c.1074T>A (p.Ser358Arg)
11g.68158031C>ACA381588068KMT5Bc.2102G>T (p.Ser701Ile)
n.2667G>T
c.*1939G>T (n.*1939G>T)
c.*1982G>T (n.*1982G>T)
c.1799G>T (p.Ser600Ile)
c.*1523G>T (n.*1523G>T)
c.2315G>T (p.Ser772Ile)
c.1595G>T (p.Ser532Ile)
c.2246G>T (p.Ser749Ile)
c.1073G>T (p.Ser358Ile)
11g.68158031C>GCA381588071KMT5Bc.2102G>C (p.Ser701Thr)
n.2667G>C
c.*1939G>C (n.*1939G>C)
c.*1982G>C (n.*1982G>C)
c.1799G>C (p.Ser600Thr)
c.*1523G>C (n.*1523G>C)
c.2315G>C (p.Ser772Thr)
c.1595G>C (p.Ser532Thr)
c.2246G>C (p.Ser749Thr)
c.1073G>C (p.Ser358Thr)
11g.68158031C>TCA381588073KMT5Bc.2102G>A (p.Ser701Asn)
n.2667G>A
c.*1939G>A (n.*1939G>A)
c.*1982G>A (n.*1982G>A)
c.1799G>A (p.Ser600Asn)
c.*1523G>A (n.*1523G>A)
c.2315G>A (p.Ser772Asn)
c.1595G>A (p.Ser532Asn)
c.2246G>A (p.Ser749Asn)
c.1073G>A (p.Ser358Asn)
11g.68158032T>ACA381588076KMT5Bc.2101A>T (p.Ser701Cys)
n.2666A>T
c.*1938A>T (n.*1938A>T)
c.*1981A>T (n.*1981A>T)
c.1798A>T (p.Ser600Cys)
c.*1522A>T (n.*1522A>T)
c.2314A>T (p.Ser772Cys)
c.1594A>T (p.Ser532Cys)
c.2245A>T (p.Ser749Cys)
c.1072A>T (p.Ser358Cys)
11g.68158032T>CCA381588078KMT5Bc.2101A>G (p.Ser701Gly)
n.2666A>G
c.*1938A>G (n.*1938A>G)
c.*1981A>G (n.*1981A>G)
c.1798A>G (p.Ser600Gly)
c.*1522A>G (n.*1522A>G)
c.2314A>G (p.Ser772Gly)
c.1594A>G (p.Ser532Gly)
c.2245A>G (p.Ser749Gly)
c.1072A>G (p.Ser358Gly)
11g.68158032T>GCA381588081KMT5Bc.2101A>C (p.Ser701Arg)
n.2666A>C
c.*1938A>C (n.*1938A>C)
c.*1981A>C (n.*1981A>C)
c.1798A>C (p.Ser600Arg)
c.*1522A>C (n.*1522A>C)
c.2314A>C (p.Ser772Arg)
c.1594A>C (p.Ser532Arg)
c.2245A>C (p.Ser749Arg)
c.1072A>C (p.Ser358Arg)
11g.68158033G>ACA475514771KMT5Bc.2100C>T (p.Gly700=)
n.2665C>T
c.*1937C>T (n.*1937C>T)
c.*1980C>T (n.*1980C>T)
c.1797C>T (p.Gly599=)
c.*1521C>T (n.*1521C>T)
c.2313C>T (p.Gly771=)
c.1593C>T (p.Gly531=)
c.2244C>T (p.Gly748=)
c.1071C>T (p.Gly357=)
dbSNP gnomAD v2 gnomAD v4
11g.68158033G>CCA475514772KMT5Bc.2100C>G (p.Gly700=)
n.2665C>G
c.*1937C>G (n.*1937C>G)
c.*1980C>G (n.*1980C>G)
c.1797C>G (p.Gly599=)
c.*1521C>G (n.*1521C>G)
c.2313C>G (p.Gly771=)
c.1593C>G (p.Gly531=)
c.2244C>G (p.Gly748=)
c.1071C>G (p.Gly357=)
11g.68158033G=CA1980500437KMT5Bc.2100C= (p.Gly700=)
n.2665C=
c.*1937C= (n.*1937C=)
c.*1980C= (n.*1980C=)
c.1797C= (p.Gly599=)
c.*1521C= (n.*1521C=)
c.2313C= (p.Gly771=)
c.1593C= (p.Gly531=)
c.2244C= (p.Gly748=)
c.1071C= (p.Gly357=)
11g.68158033G>TCA475514773KMT5Bc.2100C>A (p.Gly700=)
n.2665C>A
c.*1937C>A (n.*1937C>A)
c.*1980C>A (n.*1980C>A)
c.1797C>A (p.Gly599=)
c.*1521C>A (n.*1521C>A)
c.2313C>A (p.Gly771=)
c.1593C>A (p.Gly531=)
c.2244C>A (p.Gly748=)
c.1071C>A (p.Gly357=)
11g.68158034C>ACA381588084KMT5Bc.2099G>T (p.Gly700Val)
n.2664G>T
c.*1936G>T (n.*1936G>T)
c.*1979G>T (n.*1979G>T)
c.1796G>T (p.Gly599Val)
c.*1520G>T (n.*1520G>T)
c.2312G>T (p.Gly771Val)
c.1592G>T (p.Gly531Val)
c.2243G>T (p.Gly748Val)
c.1070G>T (p.Gly357Val)
11g.68158034C>GCA381588086KMT5Bc.2099G>C (p.Gly700Ala)
n.2664G>C
c.*1936G>C (n.*1936G>C)
c.*1979G>C (n.*1979G>C)
c.1796G>C (p.Gly599Ala)
c.*1520G>C (n.*1520G>C)
c.2312G>C (p.Gly771Ala)
c.1592G>C (p.Gly531Ala)
c.2243G>C (p.Gly748Ala)
c.1070G>C (p.Gly357Ala)
11g.68158034C>TCA381588089KMT5Bc.2099G>A (p.Gly700Asp)
n.2664G>A
c.*1936G>A (n.*1936G>A)
c.*1979G>A (n.*1979G>A)
c.1796G>A (p.Gly599Asp)
c.*1520G>A (n.*1520G>A)
c.2312G>A (p.Gly771Asp)
c.1592G>A (p.Gly531Asp)
c.2243G>A (p.Gly748Asp)
c.1070G>A (p.Gly357Asp)
gnomAD v4
11g.68158035C>ACA381588094KMT5Bc.2098G>T (p.Gly700Cys)
n.2663G>T
c.*1935G>T (n.*1935G>T)
c.*1978G>T (n.*1978G>T)
c.1795G>T (p.Gly599Cys)
c.*1519G>T (n.*1519G>T)
c.2311G>T (p.Gly771Cys)
c.1591G>T (p.Gly531Cys)
c.2242G>T (p.Gly748Cys)
c.1069G>T (p.Gly357Cys)
11g.68158035C=CA1980500441KMT5Bc.2098G= (p.Gly700=)
n.2663G=
c.*1935G= (n.*1935G=)
c.*1978G= (n.*1978G=)
c.1795G= (p.Gly599=)
c.*1519G= (n.*1519G=)
c.2311G= (p.Gly771=)
c.1591G= (p.Gly531=)
c.2242G= (p.Gly748=)
c.1069G= (p.Gly357=)
11g.68158035C>GCA381588097KMT5Bc.2098G>C (p.Gly700Arg)
n.2663G>C
c.*1935G>C (n.*1935G>C)
c.*1978G>C (n.*1978G>C)
c.1795G>C (p.Gly599Arg)
c.*1519G>C (n.*1519G>C)
c.2311G>C (p.Gly771Arg)
c.1591G>C (p.Gly531Arg)
c.2242G>C (p.Gly748Arg)
c.1069G>C (p.Gly357Arg)
11g.68158035C>TCA6148024KMT5Bc.2098G>A (p.Gly700Ser)
n.2663G>A
c.*1935G>A (n.*1935G>A)
c.*1978G>A (n.*1978G>A)
c.1795G>A (p.Gly599Ser)
c.*1519G>A (n.*1519G>A)
c.2311G>A (p.Gly771Ser)
c.1591G>A (p.Gly531Ser)
c.2242G>A (p.Gly748Ser)
c.1069G>A (p.Gly357Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.68158036T>ACA475514776KMT5Bc.2097A>T (p.Ser699=)
n.2662A>T
c.*1934A>T (n.*1934A>T)
c.*1977A>T (n.*1977A>T)
c.1794A>T (p.Ser598=)
c.*1518A>T (n.*1518A>T)
c.2310A>T (p.Ser770=)
c.1590A>T (p.Ser530=)
c.2241A>T (p.Ser747=)
c.1068A>T (p.Ser356=)
11g.68158036T>CCA475514777KMT5Bc.2097A>G (p.Ser699=)
n.2662A>G
c.*1934A>G (n.*1934A>G)
c.*1977A>G (n.*1977A>G)
c.1794A>G (p.Ser598=)
c.*1518A>G (n.*1518A>G)
c.2310A>G (p.Ser770=)
c.1590A>G (p.Ser530=)
c.2241A>G (p.Ser747=)
c.1068A>G (p.Ser356=)
gnomAD v4
11g.68158036T>GCA475514779KMT5Bc.2097A>C (p.Ser699=)
n.2662A>C
c.*1934A>C (n.*1934A>C)
c.*1977A>C (n.*1977A>C)
c.1794A>C (p.Ser598=)
c.*1518A>C (n.*1518A>C)
c.2310A>C (p.Ser770=)
c.1590A>C (p.Ser530=)
c.2241A>C (p.Ser747=)
c.1068A>C (p.Ser356=)
11g.68158037G>ACA381588100KMT5Bc.2096C>T (p.Ser699Leu)
n.2661C>T
c.*1933C>T (n.*1933C>T)
c.*1976C>T (n.*1976C>T)
c.1793C>T (p.Ser598Leu)
c.*1517C>T (n.*1517C>T)
c.2309C>T (p.Ser770Leu)
c.1589C>T (p.Ser530Leu)
c.2240C>T (p.Ser747Leu)
c.1067C>T (p.Ser356Leu)
11g.68158037G>CCA381588105KMT5Bc.2096C>G (p.Ser699Ter)
n.2661C>G
c.*1933C>G (n.*1933C>G)
c.*1976C>G (n.*1976C>G)
c.1793C>G (p.Ser598Ter)
c.*1517C>G (n.*1517C>G)
c.2309C>G (p.Ser770Ter)
c.1589C>G (p.Ser530Ter)
c.2240C>G (p.Ser747Ter)
c.1067C>G (p.Ser356Ter)
11g.68158037G>TCA381588106KMT5Bc.2096C>A (p.Ser699Ter)
n.2661C>A
c.*1933C>A (n.*1933C>A)
c.*1976C>A (n.*1976C>A)
c.1793C>A (p.Ser598Ter)
c.*1517C>A (n.*1517C>A)
c.2309C>A (p.Ser770Ter)
c.1589C>A (p.Ser530Ter)
c.2240C>A (p.Ser747Ter)
c.1067C>A (p.Ser356Ter)
11g.68158038A>CCA381588109KMT5Bc.2095T>G (p.Ser699Ala)
n.2660T>G
c.*1932T>G (n.*1932T>G)
c.*1975T>G (n.*1975T>G)
c.1792T>G (p.Ser598Ala)
c.*1516T>G (n.*1516T>G)
c.2308T>G (p.Ser770Ala)
c.1588T>G (p.Ser530Ala)
c.2239T>G (p.Ser747Ala)
c.1066T>G (p.Ser356Ala)
11g.68158038A>GCA381588111KMT5Bc.2095T>C (p.Ser699Pro)
n.2660T>C
c.*1932T>C (n.*1932T>C)
c.*1975T>C (n.*1975T>C)
c.1792T>C (p.Ser598Pro)
c.*1516T>C (n.*1516T>C)
c.2308T>C (p.Ser770Pro)
c.1588T>C (p.Ser530Pro)
c.2239T>C (p.Ser747Pro)
c.1066T>C (p.Ser356Pro)
11g.68158038A>TCA381588114KMT5Bc.2095T>A (p.Ser699Thr)
n.2660T>A
c.*1932T>A (n.*1932T>A)
c.*1975T>A (n.*1975T>A)
c.1792T>A (p.Ser598Thr)
c.*1516T>A (n.*1516T>A)
c.2308T>A (p.Ser770Thr)
c.1588T>A (p.Ser530Thr)
c.2239T>A (p.Ser747Thr)
c.1066T>A (p.Ser356Thr)
11g.68158039T>ACA475514780KMT5Bc.2094A>T (p.Gly698=)
n.2659A>T
c.*1931A>T (n.*1931A>T)
c.*1974A>T (n.*1974A>T)
c.1791A>T (p.Gly597=)
c.*1515A>T (n.*1515A>T)
c.2307A>T (p.Gly769=)
c.1587A>T (p.Gly529=)
c.2238A>T (p.Gly746=)
c.1065A>T (p.Gly355=)
11g.68158039T>CCA475514782KMT5Bc.2094A>G (p.Gly698=)
n.2659A>G
c.*1931A>G (n.*1931A>G)
c.*1974A>G (n.*1974A>G)
c.1791A>G (p.Gly597=)
c.*1515A>G (n.*1515A>G)
c.2307A>G (p.Gly769=)
c.1587A>G (p.Gly529=)
c.2238A>G (p.Gly746=)
c.1065A>G (p.Gly355=)
11g.68158039T>GCA475514781KMT5Bc.2094A>C (p.Gly698=)
n.2659A>C
c.*1931A>C (n.*1931A>C)
c.*1974A>C (n.*1974A>C)
c.1791A>C (p.Gly597=)
c.*1515A>C (n.*1515A>C)
c.2307A>C (p.Gly769=)
c.1587A>C (p.Gly529=)
c.2238A>C (p.Gly746=)
c.1065A>C (p.Gly355=)
11g.68158040C>ACA381588117KMT5Bc.2093G>T (p.Gly698Val)
n.2658G>T
c.*1930G>T (n.*1930G>T)
c.*1973G>T (n.*1973G>T)
c.1790G>T (p.Gly597Val)
c.*1514G>T (n.*1514G>T)
c.2306G>T (p.Gly769Val)
c.1586G>T (p.Gly529Val)
c.2237G>T (p.Gly746Val)
c.1064G>T (p.Gly355Val)
11g.68158040C>GCA381588119KMT5Bc.2093G>C (p.Gly698Ala)
n.2658G>C
c.*1930G>C (n.*1930G>C)
c.*1973G>C (n.*1973G>C)
c.1790G>C (p.Gly597Ala)
c.*1514G>C (n.*1514G>C)
c.2306G>C (p.Gly769Ala)
c.1586G>C (p.Gly529Ala)
c.2237G>C (p.Gly746Ala)
c.1064G>C (p.Gly355Ala)
COSMIC COSMIC
11g.68158040C>TCA381588120KMT5Bc.2093G>A (p.Gly698Glu)
n.2658G>A
c.*1930G>A (n.*1930G>A)
c.*1973G>A (n.*1973G>A)
c.1790G>A (p.Gly597Glu)
c.*1514G>A (n.*1514G>A)
c.2306G>A (p.Gly769Glu)
c.1586G>A (p.Gly529Glu)
c.2237G>A (p.Gly746Glu)
c.1064G>A (p.Gly355Glu)
gnomAD v4
11g.68158041C>ACA381588121KMT5Bc.2092G>T (p.Gly698Ter)
n.2657G>T
c.*1929G>T (n.*1929G>T)
c.*1972G>T (n.*1972G>T)
c.1789G>T (p.Gly597Ter)
c.*1513G>T (n.*1513G>T)
c.2305G>T (p.Gly769Ter)
c.1585G>T (p.Gly529Ter)
c.2236G>T (p.Gly746Ter)
c.1063G>T (p.Gly355Ter)
11g.68158041C>GCA381588123KMT5Bc.2092G>C (p.Gly698Arg)
n.2657G>C
c.*1929G>C (n.*1929G>C)
c.*1972G>C (n.*1972G>C)
c.1789G>C (p.Gly597Arg)
c.*1513G>C (n.*1513G>C)
c.2305G>C (p.Gly769Arg)
c.1585G>C (p.Gly529Arg)
c.2236G>C (p.Gly746Arg)
c.1063G>C (p.Gly355Arg)
11g.68158041C>TCA381588126KMT5Bc.2092G>A (p.Gly698Arg)
n.2657G>A
c.*1929G>A (n.*1929G>A)
c.*1972G>A (n.*1972G>A)
c.1789G>A (p.Gly597Arg)
c.*1513G>A (n.*1513G>A)
c.2305G>A (p.Gly769Arg)
c.1585G>A (p.Gly529Arg)
c.2236G>A (p.Gly746Arg)
c.1063G>A (p.Gly355Arg)
11g.68158042T>ACA475514786KMT5Bc.2091A>T (p.Ser697=)
n.2656A>T
c.*1928A>T (n.*1928A>T)
c.*1971A>T (n.*1971A>T)
c.1788A>T (p.Ser596=)
c.*1512A>T (n.*1512A>T)
c.2304A>T (p.Ser768=)
c.1584A>T (p.Ser528=)
c.2235A>T (p.Ser745=)
c.1062A>T (p.Ser354=)
11g.68158042T>CCA475514787KMT5Bc.2091A>G (p.Ser697=)
n.2656A>G
c.*1928A>G (n.*1928A>G)
c.*1971A>G (n.*1971A>G)
c.1788A>G (p.Ser596=)
c.*1512A>G (n.*1512A>G)
c.2304A>G (p.Ser768=)
c.1584A>G (p.Ser528=)
c.2235A>G (p.Ser745=)
c.1062A>G (p.Ser354=)
11g.68158042T>GCA475514788KMT5Bc.2091A>C (p.Ser697=)
n.2656A>C
c.*1928A>C (n.*1928A>C)
c.*1971A>C (n.*1971A>C)
c.1788A>C (p.Ser596=)
c.*1512A>C (n.*1512A>C)
c.2304A>C (p.Ser768=)
c.1584A>C (p.Ser528=)
c.2235A>C (p.Ser745=)
c.1062A>C (p.Ser354=)
11g.68158043delCA2614700511KMT5Bc.2090del (p.Ser697Ter)
n.2655del
c.*1927del (n.*1927del)
c.*1970del (n.*1970del)
c.1787del (p.Ser596Ter)
c.*1511del (n.*1511del)
c.2303del (p.Ser768Ter)
c.1583del (p.Ser528Ter)
c.2234del (p.Ser745Ter)
c.1061del (p.Ser354Ter)
gnomAD v4
11g.68158043G>ACA6148025KMT5Bc.2090C>T (p.Ser697Leu)
n.2655C>T
c.*1927C>T (n.*1927C>T)
c.*1970C>T (n.*1970C>T)
c.1787C>T (p.Ser596Leu)
c.*1511C>T (n.*1511C>T)
c.2303C>T (p.Ser768Leu)
c.1583C>T (p.Ser528Leu)
c.2234C>T (p.Ser745Leu)
c.1061C>T (p.Ser354Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.68158043G>CCA381588129KMT5Bc.2090C>G (p.Ser697Ter)
n.2655C>G
c.*1927C>G (n.*1927C>G)
c.*1970C>G (n.*1970C>G)
c.1787C>G (p.Ser596Ter)
c.*1511C>G (n.*1511C>G)
c.2303C>G (p.Ser768Ter)
c.1583C>G (p.Ser528Ter)
c.2234C>G (p.Ser745Ter)
c.1061C>G (p.Ser354Ter)
11g.68158043G=CA1980500447KMT5Bc.2090C= (p.Ser697=)
n.2655C=
c.*1927C= (n.*1927C=)
c.*1970C= (n.*1970C=)
c.1787C= (p.Ser596=)
c.*1511C= (n.*1511C=)
c.2303C= (p.Ser768=)
c.1583C= (p.Ser528=)
c.2234C= (p.Ser745=)
c.1061C= (p.Ser354=)
11g.68158043G>TCA381588128KMT5Bc.2090C>A (p.Ser697Ter)
n.2655C>A
c.*1927C>A (n.*1927C>A)
c.*1970C>A (n.*1970C>A)
c.1787C>A (p.Ser596Ter)
c.*1511C>A (n.*1511C>A)
c.2303C>A (p.Ser768Ter)
c.1583C>A (p.Ser528Ter)
c.2234C>A (p.Ser745Ter)
c.1061C>A (p.Ser354Ter)
11g.68158044A>CCA381588130KMT5Bc.2089T>G (p.Ser697Ala)
n.2654T>G
c.*1926T>G (n.*1926T>G)
c.*1969T>G (n.*1969T>G)
c.1786T>G (p.Ser596Ala)
c.*1510T>G (n.*1510T>G)
c.2302T>G (p.Ser768Ala)
c.1582T>G (p.Ser528Ala)
c.2233T>G (p.Ser745Ala)
c.1060T>G (p.Ser354Ala)
11g.68158044A>GCA381588131KMT5Bc.2089T>C (p.Ser697Pro)
n.2654T>C
c.*1926T>C (n.*1926T>C)
c.*1969T>C (n.*1969T>C)
c.1786T>C (p.Ser596Pro)
c.*1510T>C (n.*1510T>C)
c.2302T>C (p.Ser768Pro)
c.1582T>C (p.Ser528Pro)
c.2233T>C (p.Ser745Pro)
c.1060T>C (p.Ser354Pro)
gnomAD v4
11g.68158044A>TCA381588133KMT5Bc.2089T>A (p.Ser697Thr)
n.2654T>A
c.*1926T>A (n.*1926T>A)
c.*1969T>A (n.*1969T>A)
c.1786T>A (p.Ser596Thr)
c.*1510T>A (n.*1510T>A)
c.2302T>A (p.Ser768Thr)
c.1582T>A (p.Ser528Thr)
c.2233T>A (p.Ser745Thr)
c.1060T>A (p.Ser354Thr)
11g.68158045G>ACA475514790KMT5Bc.2088C>T (p.Asn696=)
n.2653C>T
c.*1925C>T (n.*1925C>T)
c.*1968C>T (n.*1968C>T)
c.1785C>T (p.Asn595=)
c.*1509C>T (n.*1509C>T)
c.2301C>T (p.Asn767=)
c.1581C>T (p.Asn527=)
c.2232C>T (p.Asn744=)
c.1059C>T (p.Asn353=)
11g.68158045G>CCA381588135KMT5Bc.2088C>G (p.Asn696Lys)
n.2653C>G
c.*1925C>G (n.*1925C>G)
c.*1968C>G (n.*1968C>G)
c.1785C>G (p.Asn595Lys)
c.*1509C>G (n.*1509C>G)
c.2301C>G (p.Asn767Lys)
c.1581C>G (p.Asn527Lys)
c.2232C>G (p.Asn744Lys)
c.1059C>G (p.Asn353Lys)
11g.68158045G>TCA381588136KMT5Bc.2088C>A (p.Asn696Lys)
n.2653C>A
c.*1925C>A (n.*1925C>A)
c.*1968C>A (n.*1968C>A)
c.1785C>A (p.Asn595Lys)
c.*1509C>A (n.*1509C>A)
c.2301C>A (p.Asn767Lys)
c.1581C>A (p.Asn527Lys)
c.2232C>A (p.Asn744Lys)
c.1059C>A (p.Asn353Lys)
11g.68158046T>ACA381588142KMT5Bc.2087A>T (p.Asn696Ile)
n.2652A>T
c.*1924A>T (n.*1924A>T)
c.*1967A>T (n.*1967A>T)
c.1784A>T (p.Asn595Ile)
c.*1508A>T (n.*1508A>T)
c.2300A>T (p.Asn767Ile)
c.1580A>T (p.Asn527Ile)
c.2231A>T (p.Asn744Ile)
c.1058A>T (p.Asn353Ile)
11g.68158046T>CCA381588139KMT5Bc.2087A>G (p.Asn696Ser)
n.2652A>G
c.*1924A>G (n.*1924A>G)
c.*1967A>G (n.*1967A>G)
c.1784A>G (p.Asn595Ser)
c.*1508A>G (n.*1508A>G)
c.2300A>G (p.Asn767Ser)
c.1580A>G (p.Asn527Ser)
c.2231A>G (p.Asn744Ser)
c.1058A>G (p.Asn353Ser)
11g.68158046T>GCA381588141KMT5Bc.2087A>C (p.Asn696Thr)
n.2652A>C
c.*1924A>C (n.*1924A>C)
c.*1967A>C (n.*1967A>C)
c.1784A>C (p.Asn595Thr)
c.*1508A>C (n.*1508A>C)
c.2300A>C (p.Asn767Thr)
c.1580A>C (p.Asn527Thr)
c.2231A>C (p.Asn744Thr)
c.1058A>C (p.Asn353Thr)
11g.68158047T>ACA381588143KMT5Bc.2086A>T (p.Asn696Tyr)
n.2651A>T
c.*1923A>T (n.*1923A>T)
c.*1966A>T (n.*1966A>T)
c.1783A>T (p.Asn595Tyr)
c.*1507A>T (n.*1507A>T)
c.2299A>T (p.Asn767Tyr)
c.1579A>T (p.Asn527Tyr)
c.2230A>T (p.Asn744Tyr)
c.1057A>T (p.Asn353Tyr)
11g.68158047T>CCA381588144KMT5Bc.2086A>G (p.Asn696Asp)
n.2651A>G
c.*1923A>G (n.*1923A>G)
c.*1966A>G (n.*1966A>G)
c.1783A>G (p.Asn595Asp)
c.*1507A>G (n.*1507A>G)
c.2299A>G (p.Asn767Asp)
c.1579A>G (p.Asn527Asp)
c.2230A>G (p.Asn744Asp)
c.1057A>G (p.Asn353Asp)
11g.68158047T>GCA381588145KMT5Bc.2086A>C (p.Asn696His)
n.2651A>C
c.*1923A>C (n.*1923A>C)
c.*1966A>C (n.*1966A>C)
c.1783A>C (p.Asn595His)
c.*1507A>C (n.*1507A>C)
c.2299A>C (p.Asn767His)
c.1579A>C (p.Asn527His)
c.2230A>C (p.Asn744His)
c.1057A>C (p.Asn353His)
11g.68158048A>CCA381588146KMT5Bc.2085T>G (p.Phe695Leu)
n.2650T>G
c.*1922T>G (n.*1922T>G)
c.*1965T>G (n.*1965T>G)
c.1782T>G (p.Phe594Leu)
c.*1506T>G (n.*1506T>G)
c.2298T>G (p.Phe766Leu)
c.1578T>G (p.Phe526Leu)
c.2229T>G (p.Phe743Leu)
c.1056T>G (p.Phe352Leu)
11g.68158048A>GCA475514793KMT5Bc.2085T>C (p.Phe695=)
n.2650T>C
c.*1922T>C (n.*1922T>C)
c.*1965T>C (n.*1965T>C)
c.1782T>C (p.Phe594=)
c.*1506T>C (n.*1506T>C)
c.2298T>C (p.Phe766=)
c.1578T>C (p.Phe526=)
c.2229T>C (p.Phe743=)
c.1056T>C (p.Phe352=)
11g.68158048A>TCA381588147KMT5Bc.2085T>A (p.Phe695Leu)
n.2650T>A
c.*1922T>A (n.*1922T>A)
c.*1965T>A (n.*1965T>A)
c.1782T>A (p.Phe594Leu)
c.*1506T>A (n.*1506T>A)
c.2298T>A (p.Phe766Leu)
c.1578T>A (p.Phe526Leu)
c.2229T>A (p.Phe743Leu)
c.1056T>A (p.Phe352Leu)
11g.68158049A>CCA381588152KMT5Bc.2084T>G (p.Phe695Cys)
n.2649T>G
c.*1921T>G (n.*1921T>G)
c.*1964T>G (n.*1964T>G)
c.1781T>G (p.Phe594Cys)
c.*1505T>G (n.*1505T>G)
c.2297T>G (p.Phe766Cys)
c.1577T>G (p.Phe526Cys)
c.2228T>G (p.Phe743Cys)
c.1055T>G (p.Phe352Cys)
11g.68158049A>GCA381588151KMT5Bc.2084T>C (p.Phe695Ser)
n.2649T>C
c.*1921T>C (n.*1921T>C)
c.*1964T>C (n.*1964T>C)
c.1781T>C (p.Phe594Ser)
c.*1505T>C (n.*1505T>C)
c.2297T>C (p.Phe766Ser)
c.1577T>C (p.Phe526Ser)
c.2228T>C (p.Phe743Ser)
c.1055T>C (p.Phe352Ser)
11g.68158049A>TCA381588149KMT5Bc.2084T>A (p.Phe695Tyr)
n.2649T>A
c.*1921T>A (n.*1921T>A)
c.*1964T>A (n.*1964T>A)
c.1781T>A (p.Phe594Tyr)
c.*1505T>A (n.*1505T>A)
c.2297T>A (p.Phe766Tyr)
c.1577T>A (p.Phe526Tyr)
c.2228T>A (p.Phe743Tyr)
c.1055T>A (p.Phe352Tyr)
11g.68158050A>CCA381588153KMT5Bc.2083T>G (p.Phe695Val)
n.2648T>G
c.*1920T>G (n.*1920T>G)
c.*1963T>G (n.*1963T>G)
c.1780T>G (p.Phe594Val)
c.*1504T>G (n.*1504T>G)
c.2296T>G (p.Phe766Val)
c.1576T>G (p.Phe526Val)
c.2227T>G (p.Phe743Val)
c.1054T>G (p.Phe352Val)
11g.68158050A>GCA381588155KMT5Bc.2083T>C (p.Phe695Leu)
n.2648T>C
c.*1920T>C (n.*1920T>C)
c.*1963T>C (n.*1963T>C)
c.1780T>C (p.Phe594Leu)
c.*1504T>C (n.*1504T>C)
c.2296T>C (p.Phe766Leu)
c.1576T>C (p.Phe526Leu)
c.2227T>C (p.Phe743Leu)
c.1054T>C (p.Phe352Leu)
11g.68158050A>TCA381588154KMT5Bc.2083T>A (p.Phe695Ile)
n.2648T>A
c.*1920T>A (n.*1920T>A)
c.*1963T>A (n.*1963T>A)
c.1780T>A (p.Phe594Ile)
c.*1504T>A (n.*1504T>A)
c.2296T>A (p.Phe766Ile)
c.1576T>A (p.Phe526Ile)
c.2227T>A (p.Phe743Ile)
c.1054T>A (p.Phe352Ile)
11g.68158051T>ACA475514797KMT5Bc.2082A>T (p.Gly694=)
n.2647A>T
c.*1919A>T (n.*1919A>T)
c.*1962A>T (n.*1962A>T)
c.1779A>T (p.Gly593=)
c.*1503A>T (n.*1503A>T)
c.2295A>T (p.Gly765=)
c.1575A>T (p.Gly525=)
c.2226A>T (p.Gly742=)
c.1053A>T (p.Gly351=)
11g.68158051T>CCA475514798KMT5Bc.2082A>G (p.Gly694=)
n.2647A>G
c.*1919A>G (n.*1919A>G)
c.*1962A>G (n.*1962A>G)
c.1779A>G (p.Gly593=)
c.*1503A>G (n.*1503A>G)
c.2295A>G (p.Gly765=)
c.1575A>G (p.Gly525=)
c.2226A>G (p.Gly742=)
c.1053A>G (p.Gly351=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158051T>GCA475514799KMT5Bc.2082A>C (p.Gly694=)
n.2647A>C
c.*1919A>C (n.*1919A>C)
c.*1962A>C (n.*1962A>C)
c.1779A>C (p.Gly593=)
c.*1503A>C (n.*1503A>C)
c.2295A>C (p.Gly765=)
c.1575A>C (p.Gly525=)
c.2226A>C (p.Gly742=)
c.1053A>C (p.Gly351=)
11g.68158051T=CA1980500456KMT5Bc.2082A= (p.Gly694=)
n.2647A=
c.*1919A= (n.*1919A=)
c.*1962A= (n.*1962A=)
c.1779A= (p.Gly593=)
c.*1503A= (n.*1503A=)
c.2295A= (p.Gly765=)
c.1575A= (p.Gly525=)
c.2226A= (p.Gly742=)
c.1053A= (p.Gly351=)
11g.68158052C>ACA381588156KMT5Bc.2081G>T (p.Gly694Val)
n.2646G>T
c.*1918G>T (n.*1918G>T)
c.*1961G>T (n.*1961G>T)
c.1778G>T (p.Gly593Val)
c.*1502G>T (n.*1502G>T)
c.2294G>T (p.Gly765Val)
c.1574G>T (p.Gly525Val)
c.2225G>T (p.Gly742Val)
c.1052G>T (p.Gly351Val)
11g.68158052C>GCA381588157KMT5Bc.2081G>C (p.Gly694Ala)
n.2646G>C
c.*1918G>C (n.*1918G>C)
c.*1961G>C (n.*1961G>C)
c.1778G>C (p.Gly593Ala)
c.*1502G>C (n.*1502G>C)
c.2294G>C (p.Gly765Ala)
c.1574G>C (p.Gly525Ala)
c.2225G>C (p.Gly742Ala)
c.1052G>C (p.Gly351Ala)
11g.68158052C>TCA381588158KMT5Bc.2081G>A (p.Gly694Glu)
n.2646G>A
c.*1918G>A (n.*1918G>A)
c.*1961G>A (n.*1961G>A)
c.1778G>A (p.Gly593Glu)
c.*1502G>A (n.*1502G>A)
c.2294G>A (p.Gly765Glu)
c.1574G>A (p.Gly525Glu)
c.2225G>A (p.Gly742Glu)
c.1052G>A (p.Gly351Glu)
11g.68158053C>ACA381588159KMT5Bc.2080G>T (p.Gly694Ter)
n.2645G>T
c.*1917G>T (n.*1917G>T)
c.*1960G>T (n.*1960G>T)
c.1777G>T (p.Gly593Ter)
c.*1501G>T (n.*1501G>T)
c.2293G>T (p.Gly765Ter)
c.1573G>T (p.Gly525Ter)
c.2224G>T (p.Gly742Ter)
c.1051G>T (p.Gly351Ter)
11g.68158053C>GCA381588160KMT5Bc.2080G>C (p.Gly694Arg)
n.2645G>C
c.*1917G>C (n.*1917G>C)
c.*1960G>C (n.*1960G>C)
c.1777G>C (p.Gly593Arg)
c.*1501G>C (n.*1501G>C)
c.2293G>C (p.Gly765Arg)
c.1573G>C (p.Gly525Arg)
c.2224G>C (p.Gly742Arg)
c.1051G>C (p.Gly351Arg)
11g.68158053C>TCA381588161KMT5Bc.2080G>A (p.Gly694Arg)
n.2645G>A
c.*1917G>A (n.*1917G>A)
c.*1960G>A (n.*1960G>A)
c.1777G>A (p.Gly593Arg)
c.*1501G>A (n.*1501G>A)
c.2293G>A (p.Gly765Arg)
c.1573G>A (p.Gly525Arg)
c.2224G>A (p.Gly742Arg)
c.1051G>A (p.Gly351Arg)
11g.68158054A=CA1980500460KMT5Bc.2079T= (p.Asn693=)
n.2644T=
c.*1916T= (n.*1916T=)
c.*1959T= (n.*1959T=)
c.1776T= (p.Asn592=)
c.*1500T= (n.*1500T=)
c.2292T= (p.Asn764=)
c.1572T= (p.Asn524=)
c.2223T= (p.Asn741=)
c.1050T= (p.Asn350=)
11g.68158054A>CCA381588162KMT5Bc.2079T>G (p.Asn693Lys)
n.2644T>G
c.*1916T>G (n.*1916T>G)
c.*1959T>G (n.*1959T>G)
c.1776T>G (p.Asn592Lys)
c.*1500T>G (n.*1500T>G)
c.2292T>G (p.Asn764Lys)
c.1572T>G (p.Asn524Lys)
c.2223T>G (p.Asn741Lys)
c.1050T>G (p.Asn350Lys)
dbSNP
11g.68158054A>GCA475514801KMT5Bc.2079T>C (p.Asn693=)
n.2644T>C
c.*1916T>C (n.*1916T>C)
c.*1959T>C (n.*1959T>C)
c.1776T>C (p.Asn592=)
c.*1500T>C (n.*1500T>C)
c.2292T>C (p.Asn764=)
c.1572T>C (p.Asn524=)
c.2223T>C (p.Asn741=)
c.1050T>C (p.Asn350=)
gnomAD v4
11g.68158054A>TCA381588163KMT5Bc.2079T>A (p.Asn693Lys)
n.2644T>A
c.*1916T>A (n.*1916T>A)
c.*1959T>A (n.*1959T>A)
c.1776T>A (p.Asn592Lys)
c.*1500T>A (n.*1500T>A)
c.2292T>A (p.Asn764Lys)
c.1572T>A (p.Asn524Lys)
c.2223T>A (p.Asn741Lys)
c.1050T>A (p.Asn350Lys)
11g.68158055T>ACA381588164KMT5Bc.2078A>T (p.Asn693Ile)
n.2643A>T
c.*1915A>T (n.*1915A>T)
c.*1958A>T (n.*1958A>T)
c.1775A>T (p.Asn592Ile)
c.*1499A>T (n.*1499A>T)
c.2291A>T (p.Asn764Ile)
c.1571A>T (p.Asn524Ile)
c.2222A>T (p.Asn741Ile)
c.1049A>T (p.Asn350Ile)
11g.68158055T>CCA381588165KMT5Bc.2078A>G (p.Asn693Ser)
n.2643A>G
c.*1915A>G (n.*1915A>G)
c.*1958A>G (n.*1958A>G)
c.1775A>G (p.Asn592Ser)
c.*1499A>G (n.*1499A>G)
c.2291A>G (p.Asn764Ser)
c.1571A>G (p.Asn524Ser)
c.2222A>G (p.Asn741Ser)
c.1049A>G (p.Asn350Ser)
gnomAD v4
11g.68158055T>GCA381588166KMT5Bc.2078A>C (p.Asn693Thr)
n.2643A>C
c.*1915A>C (n.*1915A>C)
c.*1958A>C (n.*1958A>C)
c.1775A>C (p.Asn592Thr)
c.*1499A>C (n.*1499A>C)
c.2291A>C (p.Asn764Thr)
c.1571A>C (p.Asn524Thr)
c.2222A>C (p.Asn741Thr)
c.1049A>C (p.Asn350Thr)
11g.68158056T>ACA381588167KMT5Bc.2077A>T (p.Asn693Tyr)
n.2642A>T
c.*1914A>T (n.*1914A>T)
c.*1957A>T (n.*1957A>T)
c.1774A>T (p.Asn592Tyr)
c.*1498A>T (n.*1498A>T)
c.2290A>T (p.Asn764Tyr)
c.1570A>T (p.Asn524Tyr)
c.2221A>T (p.Asn741Tyr)
c.1048A>T (p.Asn350Tyr)
11g.68158056T>CCA381588168KMT5Bc.2077A>G (p.Asn693Asp)
n.2642A>G
c.*1914A>G (n.*1914A>G)
c.*1957A>G (n.*1957A>G)
c.1774A>G (p.Asn592Asp)
c.*1498A>G (n.*1498A>G)
c.2290A>G (p.Asn764Asp)
c.1570A>G (p.Asn524Asp)
c.2221A>G (p.Asn741Asp)
c.1048A>G (p.Asn350Asp)
11g.68158056T>GCA381588169KMT5Bc.2077A>C (p.Asn693His)
n.2642A>C
c.*1914A>C (n.*1914A>C)
c.*1957A>C (n.*1957A>C)
c.1774A>C (p.Asn592His)
c.*1498A>C (n.*1498A>C)
c.2290A>C (p.Asn764His)
c.1570A>C (p.Asn524His)
c.2221A>C (p.Asn741His)
c.1048A>C (p.Asn350His)
11g.68158057A>CCA381588171KMT5Bc.2076T>G (p.Asn692Lys)
n.2641T>G
c.*1913T>G (n.*1913T>G)
c.*1956T>G (n.*1956T>G)
c.1773T>G (p.Asn591Lys)
c.*1497T>G (n.*1497T>G)
c.2289T>G (p.Asn763Lys)
c.1569T>G (p.Asn523Lys)
c.2220T>G (p.Asn740Lys)
c.1047T>G (p.Asn349Lys)
11g.68158057A>GCA475514802KMT5Bc.2076T>C (p.Asn692=)
n.2641T>C
c.*1913T>C (n.*1913T>C)
c.*1956T>C (n.*1956T>C)
c.1773T>C (p.Asn591=)
c.*1497T>C (n.*1497T>C)
c.2289T>C (p.Asn763=)
c.1569T>C (p.Asn523=)
c.2220T>C (p.Asn740=)
c.1047T>C (p.Asn349=)
gnomAD v4
11g.68158057A>TCA381588173KMT5Bc.2076T>A (p.Asn692Lys)
n.2641T>A
c.*1913T>A (n.*1913T>A)
c.*1956T>A (n.*1956T>A)
c.1773T>A (p.Asn591Lys)
c.*1497T>A (n.*1497T>A)
c.2289T>A (p.Asn763Lys)
c.1569T>A (p.Asn523Lys)
c.2220T>A (p.Asn740Lys)
c.1047T>A (p.Asn349Lys)
11g.68158058T>ACA381588175KMT5Bc.2075A>T (p.Asn692Ile)
n.2640A>T
c.*1912A>T (n.*1912A>T)
c.*1955A>T (n.*1955A>T)
c.1772A>T (p.Asn591Ile)
c.*1496A>T (n.*1496A>T)
c.2288A>T (p.Asn763Ile)
c.1568A>T (p.Asn523Ile)
c.2219A>T (p.Asn740Ile)
c.1046A>T (p.Asn349Ile)
11g.68158058T>CCA381588177KMT5Bc.2075A>G (p.Asn692Ser)
n.2640A>G
c.*1912A>G (n.*1912A>G)
c.*1955A>G (n.*1955A>G)
c.1772A>G (p.Asn591Ser)
c.*1496A>G (n.*1496A>G)
c.2288A>G (p.Asn763Ser)
c.1568A>G (p.Asn523Ser)
c.2219A>G (p.Asn740Ser)
c.1046A>G (p.Asn349Ser)
dbSNP gnomAD v2 gnomAD v4
11g.68158058T>GCA381588179KMT5Bc.2075A>C (p.Asn692Thr)
n.2640A>C
c.*1912A>C (n.*1912A>C)
c.*1955A>C (n.*1955A>C)
c.1772A>C (p.Asn591Thr)
c.*1496A>C (n.*1496A>C)
c.2288A>C (p.Asn763Thr)
c.1568A>C (p.Asn523Thr)
c.2219A>C (p.Asn740Thr)
c.1046A>C (p.Asn349Thr)
11g.68158058T=CA1980500464KMT5Bc.2075A= (p.Asn692=)
n.2640A=
c.*1912A= (n.*1912A=)
c.*1955A= (n.*1955A=)
c.1772A= (p.Asn591=)
c.*1496A= (n.*1496A=)
c.2288A= (p.Asn763=)
c.1568A= (p.Asn523=)
c.2219A= (p.Asn740=)
c.1046A= (p.Asn349=)
11g.68158059T>ACA381588181KMT5Bc.2074A>T (p.Asn692Tyr)
n.2639A>T
c.*1911A>T (n.*1911A>T)
c.*1954A>T (n.*1954A>T)
c.1771A>T (p.Asn591Tyr)
c.*1495A>T (n.*1495A>T)
c.2287A>T (p.Asn763Tyr)
c.1567A>T (p.Asn523Tyr)
c.2218A>T (p.Asn740Tyr)
c.1045A>T (p.Asn349Tyr)
11g.68158059T>CCA224248021KMT5Bc.2074A>G (p.Asn692Asp)
n.2639A>G
c.*1911A>G (n.*1911A>G)
c.*1954A>G (n.*1954A>G)
c.1771A>G (p.Asn591Asp)
c.*1495A>G (n.*1495A>G)
c.2287A>G (p.Asn763Asp)
c.1567A>G (p.Asn523Asp)
c.2218A>G (p.Asn740Asp)
c.1045A>G (p.Asn349Asp)
dbSNP gnomAD v3 gnomAD v4
11g.68158059T>GCA381588184KMT5Bc.2074A>C (p.Asn692His)
n.2639A>C
c.*1911A>C (n.*1911A>C)
c.*1954A>C (n.*1954A>C)
c.1771A>C (p.Asn591His)
c.*1495A>C (n.*1495A>C)
c.2287A>C (p.Asn763His)
c.1567A>C (p.Asn523His)
c.2218A>C (p.Asn740His)
c.1045A>C (p.Asn349His)
11g.68158059T=CA1980500470KMT5Bc.2074A= (p.Asn692=)
n.2639A=
c.*1911A= (n.*1911A=)
c.*1954A= (n.*1954A=)
c.1771A= (p.Asn591=)
c.*1495A= (n.*1495A=)
c.2287A= (p.Asn763=)
c.1567A= (p.Asn523=)
c.2218A= (p.Asn740=)
c.1045A= (p.Asn349=)
11g.68158060A>CCA475514890KMT5Bc.2073T>G (p.Leu691=)
n.2638T>G
c.*1910T>G (n.*1910T>G)
c.*1953T>G (n.*1953T>G)
c.1770T>G (p.Leu590=)
c.*1494T>G (n.*1494T>G)
c.2286T>G (p.Leu762=)
c.1566T>G (p.Leu522=)
c.2217T>G (p.Leu739=)
c.1044T>G (p.Leu348=)
11g.68158060A>GCA475514891KMT5Bc.2073T>C (p.Leu691=)
n.2638T>C
c.*1910T>C (n.*1910T>C)
c.*1953T>C (n.*1953T>C)
c.1770T>C (p.Leu590=)
c.*1494T>C (n.*1494T>C)
c.2286T>C (p.Leu762=)
c.1566T>C (p.Leu522=)
c.2217T>C (p.Leu739=)
c.1044T>C (p.Leu348=)
11g.68158060A>TCA475514892KMT5Bc.2073T>A (p.Leu691=)
n.2638T>A
c.*1910T>A (n.*1910T>A)
c.*1953T>A (n.*1953T>A)
c.1770T>A (p.Leu590=)
c.*1494T>A (n.*1494T>A)
c.2286T>A (p.Leu762=)
c.1566T>A (p.Leu522=)
c.2217T>A (p.Leu739=)
c.1044T>A (p.Leu348=)
11g.68158061A=CA1980500473KMT5Bc.2072T= (p.Leu691=)
n.2637T=
c.*1909T= (n.*1909T=)
c.*1952T= (n.*1952T=)
c.1769T= (p.Leu590=)
c.*1493T= (n.*1493T=)
c.2285T= (p.Leu762=)
c.1565T= (p.Leu522=)
c.2216T= (p.Leu739=)
c.1043T= (p.Leu348=)
11g.68158061A>CCA381588186KMT5Bc.2072T>G (p.Leu691Arg)
n.2637T>G
c.*1909T>G (n.*1909T>G)
c.*1952T>G (n.*1952T>G)
c.1769T>G (p.Leu590Arg)
c.*1493T>G (n.*1493T>G)
c.2285T>G (p.Leu762Arg)
c.1565T>G (p.Leu522Arg)
c.2216T>G (p.Leu739Arg)
c.1043T>G (p.Leu348Arg)
11g.68158061A>GCA224248027KMT5Bc.2072T>C (p.Leu691Pro)
n.2637T>C
c.*1909T>C (n.*1909T>C)
c.*1952T>C (n.*1952T>C)
c.1769T>C (p.Leu590Pro)
c.*1493T>C (n.*1493T>C)
c.2285T>C (p.Leu762Pro)
c.1565T>C (p.Leu522Pro)
c.2216T>C (p.Leu739Pro)
c.1043T>C (p.Leu348Pro)
dbSNP gnomAD v4
11g.68158061A>TCA381588189KMT5Bc.2072T>A (p.Leu691His)
n.2637T>A
c.*1909T>A (n.*1909T>A)
c.*1952T>A (n.*1952T>A)
c.1769T>A (p.Leu590His)
c.*1493T>A (n.*1493T>A)
c.2285T>A (p.Leu762His)
c.1565T>A (p.Leu522His)
c.2216T>A (p.Leu739His)
c.1043T>A (p.Leu348His)
11g.68158062G>ACA224248029KMT5Bc.2071C>T (p.Leu691Phe)
n.2636C>T
c.*1908C>T (n.*1908C>T)
c.*1951C>T (n.*1951C>T)
c.1768C>T (p.Leu590Phe)
c.*1492C>T (n.*1492C>T)
c.2284C>T (p.Leu762Phe)
c.1564C>T (p.Leu522Phe)
c.2215C>T (p.Leu739Phe)
c.1042C>T (p.Leu348Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.68158062G>CCA381588191KMT5Bc.2071C>G (p.Leu691Val)
n.2636C>G
c.*1908C>G (n.*1908C>G)
c.*1951C>G (n.*1951C>G)
c.1768C>G (p.Leu590Val)
c.*1492C>G (n.*1492C>G)
c.2284C>G (p.Leu762Val)
c.1564C>G (p.Leu522Val)
c.2215C>G (p.Leu739Val)
c.1042C>G (p.Leu348Val)
11g.68158062G=CA1980500474KMT5Bc.2071C= (p.Leu691=)
n.2636C=
c.*1908C= (n.*1908C=)
c.*1951C= (n.*1951C=)
c.1768C= (p.Leu590=)
c.*1492C= (n.*1492C=)
c.2284C= (p.Leu762=)
c.1564C= (p.Leu522=)
c.2215C= (p.Leu739=)
c.1042C= (p.Leu348=)
11g.68158062G>TCA381588193KMT5Bc.2071C>A (p.Leu691Ile)
n.2636C>A
c.*1908C>A (n.*1908C>A)
c.*1951C>A (n.*1951C>A)
c.1768C>A (p.Leu590Ile)
c.*1492C>A (n.*1492C>A)
c.2284C>A (p.Leu762Ile)
c.1564C>A (p.Leu522Ile)
c.2215C>A (p.Leu739Ile)
c.1042C>A (p.Leu348Ile)
11g.68158063C>ACA381588195KMT5Bc.2070G>T (p.Lys690Asn)
n.2635G>T
c.*1907G>T (n.*1907G>T)
c.*1950G>T (n.*1950G>T)
c.1767G>T (p.Lys589Asn)
c.*1491G>T (n.*1491G>T)
c.2283G>T (p.Lys761Asn)
c.1563G>T (p.Lys521Asn)
c.2214G>T (p.Lys738Asn)
c.1041G>T (p.Lys347Asn)
COSMIC COSMIC
11g.68158063C>GCA381588197KMT5Bc.2070G>C (p.Lys690Asn)
n.2635G>C
c.*1907G>C (n.*1907G>C)
c.*1950G>C (n.*1950G>C)
c.1767G>C (p.Lys589Asn)
c.*1491G>C (n.*1491G>C)
c.2283G>C (p.Lys761Asn)
c.1563G>C (p.Lys521Asn)
c.2214G>C (p.Lys738Asn)
c.1041G>C (p.Lys347Asn)
11g.68158063C>TCA475514897KMT5Bc.2070G>A (p.Lys690=)
n.2635G>A
c.*1907G>A (n.*1907G>A)
c.*1950G>A (n.*1950G>A)
c.1767G>A (p.Lys589=)
c.*1491G>A (n.*1491G>A)
c.2283G>A (p.Lys761=)
c.1563G>A (p.Lys521=)
c.2214G>A (p.Lys738=)
c.1041G>A (p.Lys347=)
11g.68158064T>ACA381588199KMT5Bc.2069A>T (p.Lys690Met)
n.2634A>T
c.*1906A>T (n.*1906A>T)
c.*1949A>T (n.*1949A>T)
c.1766A>T (p.Lys589Met)
c.*1490A>T (n.*1490A>T)
c.2282A>T (p.Lys761Met)
c.1562A>T (p.Lys521Met)
c.2213A>T (p.Lys738Met)
c.1040A>T (p.Lys347Met)
11g.68158064T>CCA381588200KMT5Bc.2069A>G (p.Lys690Arg)
n.2634A>G
c.*1906A>G (n.*1906A>G)
c.*1949A>G (n.*1949A>G)
c.1766A>G (p.Lys589Arg)
c.*1490A>G (n.*1490A>G)
c.2282A>G (p.Lys761Arg)
c.1562A>G (p.Lys521Arg)
c.2213A>G (p.Lys738Arg)
c.1040A>G (p.Lys347Arg)
11g.68158064T>GCA381588202KMT5Bc.2069A>C (p.Lys690Thr)
n.2634A>C
c.*1906A>C (n.*1906A>C)
c.*1949A>C (n.*1949A>C)
c.1766A>C (p.Lys589Thr)
c.*1490A>C (n.*1490A>C)
c.2282A>C (p.Lys761Thr)
c.1562A>C (p.Lys521Thr)
c.2213A>C (p.Lys738Thr)
c.1040A>C (p.Lys347Thr)
11g.68158065T>ACA381588205KMT5Bc.2068A>T (p.Lys690Ter)
n.2633A>T
c.*1905A>T (n.*1905A>T)
c.*1948A>T (n.*1948A>T)
c.1765A>T (p.Lys589Ter)
c.*1489A>T (n.*1489A>T)
c.2281A>T (p.Lys761Ter)
c.1561A>T (p.Lys521Ter)
c.2212A>T (p.Lys738Ter)
c.1039A>T (p.Lys347Ter)
11g.68158065T>CCA381588207KMT5Bc.2068A>G (p.Lys690Glu)
n.2633A>G
c.*1905A>G (n.*1905A>G)
c.*1948A>G (n.*1948A>G)
c.1765A>G (p.Lys589Glu)
c.*1489A>G (n.*1489A>G)
c.2281A>G (p.Lys761Glu)
c.1561A>G (p.Lys521Glu)
c.2212A>G (p.Lys738Glu)
c.1039A>G (p.Lys347Glu)
11g.68158065T>GCA381588209KMT5Bc.2068A>C (p.Lys690Gln)
n.2633A>C
c.*1905A>C (n.*1905A>C)
c.*1948A>C (n.*1948A>C)
c.1765A>C (p.Lys589Gln)
c.*1489A>C (n.*1489A>C)
c.2281A>C (p.Lys761Gln)
c.1561A>C (p.Lys521Gln)
c.2212A>C (p.Lys738Gln)
c.1039A>C (p.Lys347Gln)
11g.68158066T>ACA475514898KMT5Bc.2067A>T (p.Ala689=)
n.2632A>T
c.*1904A>T (n.*1904A>T)
c.*1947A>T (n.*1947A>T)
c.1764A>T (p.Ala588=)
c.*1488A>T (n.*1488A>T)
c.2280A>T (p.Ala760=)
c.1560A>T (p.Ala520=)
c.2211A>T (p.Ala737=)
c.1038A>T (p.Ala346=)
11g.68158066T>CCA475514899KMT5Bc.2067A>G (p.Ala689=)
n.2632A>G
c.*1904A>G (n.*1904A>G)
c.*1947A>G (n.*1947A>G)
c.1764A>G (p.Ala588=)
c.*1488A>G (n.*1488A>G)
c.2280A>G (p.Ala760=)
c.1560A>G (p.Ala520=)
c.2211A>G (p.Ala737=)
c.1038A>G (p.Ala346=)
11g.68158066T>GCA475514900KMT5Bc.2067A>C (p.Ala689=)
n.2632A>C
c.*1904A>C (n.*1904A>C)
c.*1947A>C (n.*1947A>C)
c.1764A>C (p.Ala588=)
c.*1488A>C (n.*1488A>C)
c.2280A>C (p.Ala760=)
c.1560A>C (p.Ala520=)
c.2211A>C (p.Ala737=)
c.1038A>C (p.Ala346=)

Number of alleles fetched