Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49039417C>ACA2726053052KMT2Dc.8229+18G>T (n.8229+18G>T)
c.8238+18G>T (n.8238+18G>T)
c.2248+18G>T
c.1902+18G>T (n.1902+18G>T)
c.2338+18G>T
c.8226+18G>T (n.8226+18G>T)
c.8235+18G>T (n.8235+18G>T)
c.8217+18G>T (n.8217+18G>T)
c.8145+18G>T (n.8145+18G>T)
n.10558+18G>T
n.9547+18G>T
 dbSNP
12g.49039417C=CA2034959397KMT2Dc.8229+18G= (n.8229+18G=)
c.8238+18G= (n.8238+18G=)
c.2248+18G=
c.1902+18G= (n.1902+18G=)
c.2338+18G=
c.8226+18G= (n.8226+18G=)
c.8235+18G= (n.8235+18G=)
c.8217+18G= (n.8217+18G=)
c.8145+18G= (n.8145+18G=)
n.10558+18G=
n.9547+18G=
12g.49039417C>TCA6546892KMT2Dc.8229+18G>A (n.8229+18G>A)
c.8238+18G>A (n.8238+18G>A)
c.2248+18G>A
c.1902+18G>A (n.1902+18G>A)
c.2338+18G>A
c.8226+18G>A (n.8226+18G>A)
c.8235+18G>A (n.8235+18G>A)
c.8217+18G>A (n.8217+18G>A)
c.8145+18G>A (n.8145+18G>A)
n.10558+18G>A
n.9547+18G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039418C>ACA2618608368KMT2Dc.8229+17G>T (n.8229+17G>T)
c.8238+17G>T (n.8238+17G>T)
c.2248+17G>T
c.1902+17G>T (n.1902+17G>T)
c.2338+17G>T
c.8226+17G>T (n.8226+17G>T)
c.8235+17G>T (n.8235+17G>T)
c.8217+17G>T (n.8217+17G>T)
c.8145+17G>T (n.8145+17G>T)
n.10558+17G>T
n.9547+17G>T
 dbSNP gnomAD v4
12g.49039418C>TCA2618608369KMT2Dc.8229+17G>A (n.8229+17G>A)
c.8238+17G>A (n.8238+17G>A)
c.2248+17G>A
c.1902+17G>A (n.1902+17G>A)
c.2338+17G>A
c.8226+17G>A (n.8226+17G>A)
c.8235+17G>A (n.8235+17G>A)
c.8217+17G>A (n.8217+17G>A)
c.8145+17G>A (n.8145+17G>A)
n.10558+17G>A
n.9547+17G>A
 gnomAD v4
12g.49039421G>ACA6546893KMT2Dc.8229+14C>T (n.8229+14C>T)
c.8238+14C>T (n.8238+14C>T)
c.2248+14C>T
c.1902+14C>T (n.1902+14C>T)
c.2338+14C>T
c.8226+14C>T (n.8226+14C>T)
c.8235+14C>T (n.8235+14C>T)
c.8217+14C>T (n.8217+14C>T)
c.8145+14C>T (n.8145+14C>T)
n.10558+14C>T
n.9547+14C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039421G=CA2034959398KMT2Dc.8229+14C= (n.8229+14C=)
c.8238+14C= (n.8238+14C=)
c.2248+14C=
c.1902+14C= (n.1902+14C=)
c.2338+14C=
c.8226+14C= (n.8226+14C=)
c.8235+14C= (n.8235+14C=)
c.8217+14C= (n.8217+14C=)
c.8145+14C= (n.8145+14C=)
n.10558+14C=
n.9547+14C=
12g.49039422C>ACA2726057078KMT2Dc.8229+13G>T (n.8229+13G>T)
c.8238+13G>T (n.8238+13G>T)
c.2248+13G>T
c.1902+13G>T (n.1902+13G>T)
c.2338+13G>T
c.8226+13G>T (n.8226+13G>T)
c.8235+13G>T (n.8235+13G>T)
c.8217+13G>T (n.8217+13G>T)
c.8145+13G>T (n.8145+13G>T)
n.10558+13G>T
n.9547+13G>T
 dbSNP
12g.49039422C=CA2034959401KMT2Dc.8229+13G= (n.8229+13G=)
c.8238+13G= (n.8238+13G=)
c.2248+13G=
c.1902+13G= (n.1902+13G=)
c.2338+13G=
c.8226+13G= (n.8226+13G=)
c.8235+13G= (n.8235+13G=)
c.8217+13G= (n.8217+13G=)
c.8145+13G= (n.8145+13G=)
n.10558+13G=
n.9547+13G=
12g.49039422C>GCA6546894KMT2Dc.8229+13G>C (n.8229+13G>C)
c.8238+13G>C (n.8238+13G>C)
c.2248+13G>C
c.1902+13G>C (n.1902+13G>C)
c.2338+13G>C
c.8226+13G>C (n.8226+13G>C)
c.8235+13G>C (n.8235+13G>C)
c.8217+13G>C (n.8217+13G>C)
c.8145+13G>C (n.8145+13G>C)
n.10558+13G>C
n.9547+13G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039424A>TCA2726161314KMT2Dc.8229+11T>A (n.8229+11T>A)
c.8238+11T>A (n.8238+11T>A)
c.2248+11T>A
c.1902+11T>A (n.1902+11T>A)
c.2338+11T>A
c.8226+11T>A (n.8226+11T>A)
c.8235+11T>A (n.8235+11T>A)
c.8217+11T>A (n.8217+11T>A)
c.8145+11T>A (n.8145+11T>A)
n.10558+11T>A
n.9547+11T>A
 dbSNP
12g.49039425C>ACA2575160630KMT2Dc.8229+10G>T (n.8229+10G>T)
c.8238+10G>T (n.8238+10G>T)
c.2248+10G>T
c.1902+10G>T (n.1902+10G>T)
c.2338+10G>T
c.8226+10G>T (n.8226+10G>T)
c.8235+10G>T (n.8235+10G>T)
c.8217+10G>T (n.8217+10G>T)
c.8145+10G>T (n.8145+10G>T)
n.10558+10G>T
n.9547+10G>T
12g.49039427C>ACA2795892999KMT2Dc.8229+8G>T (n.8229+8G>T)
c.8238+8G>T (n.8238+8G>T)
c.2248+8G>T
c.1902+8G>T (n.1902+8G>T)
c.2338+8G>T
c.8226+8G>T (n.8226+8G>T)
c.8235+8G>T (n.8235+8G>T)
c.8217+8G>T (n.8217+8G>T)
c.8145+8G>T (n.8145+8G>T)
n.10558+8G>T
n.9547+8G>T
12g.49039427C=CA2034959404KMT2Dc.8229+8G= (n.8229+8G=)
c.8238+8G= (n.8238+8G=)
c.2248+8G=
c.1902+8G= (n.1902+8G=)
c.2338+8G=
c.8226+8G= (n.8226+8G=)
c.8235+8G= (n.8235+8G=)
c.8217+8G= (n.8217+8G=)
c.8145+8G= (n.8145+8G=)
n.10558+8G=
n.9547+8G=
12g.49039427C>GCA689527951KMT2Dc.8229+8G>C (n.8229+8G>C)
c.8238+8G>C (n.8238+8G>C)
c.2248+8G>C
c.1902+8G>C (n.1902+8G>C)
c.2338+8G>C
c.8226+8G>C (n.8226+8G>C)
c.8235+8G>C (n.8235+8G>C)
c.8217+8G>C (n.8217+8G>C)
c.8145+8G>C (n.8145+8G>C)
n.10558+8G>C
n.9547+8G>C
 dbSNP gnomAD v3 gnomAD v4
12g.49039429A>GCA645579665KMT2Dc.8229+6T>C (n.8229+6T>C)
c.8238+6T>C (n.8238+6T>C)
c.2248+6T>C
c.1902+6T>C (n.1902+6T>C)
c.2338+6T>C
c.8226+6T>C (n.8226+6T>C)
c.8235+6T>C (n.8235+6T>C)
c.8217+6T>C (n.8217+6T>C)
c.8145+6T>C (n.8145+6T>C)
n.10558+6T>C
n.9547+6T>C
 COSMIC COSMIC
12g.49039430C>TCA2618608372KMT2Dc.8229+5G>A (n.8229+5G>A)
c.8238+5G>A (n.8238+5G>A)
c.2248+5G>A
c.1902+5G>A (n.1902+5G>A)
c.2338+5G>A
c.8226+5G>A (n.8226+5G>A)
c.8235+5G>A (n.8235+5G>A)
c.8217+5G>A (n.8217+5G>A)
c.8145+5G>A (n.8145+5G>A)
n.10558+5G>A
n.9547+5G>A
 gnomAD v4
12g.49039431C>ACA2618608374KMT2Dc.8229+4G>T (n.8229+4G>T)
c.8238+4G>T (n.8238+4G>T)
c.2248+4G>T
c.1902+4G>T (n.1902+4G>T)
c.2338+4G>T
c.8226+4G>T (n.8226+4G>T)
c.8235+4G>T (n.8235+4G>T)
c.8217+4G>T (n.8217+4G>T)
c.8145+4G>T (n.8145+4G>T)
n.10558+4G>T
n.9547+4G>T
 gnomAD v4
12g.49039431C=CA2034959407KMT2Dc.8229+4G= (n.8229+4G=)
c.8238+4G= (n.8238+4G=)
c.2248+4G=
c.1902+4G= (n.1902+4G=)
c.2338+4G=
c.8226+4G= (n.8226+4G=)
c.8235+4G= (n.8235+4G=)
c.8217+4G= (n.8217+4G=)
c.8145+4G= (n.8145+4G=)
n.10558+4G=
n.9547+4G=
12g.49039431C>TCA6546895KMT2Dc.8229+4G>A (n.8229+4G>A)
c.8238+4G>A (n.8238+4G>A)
c.2248+4G>A
c.1902+4G>A (n.1902+4G>A)
c.2338+4G>A
c.8226+4G>A (n.8226+4G>A)
c.8235+4G>A (n.8235+4G>A)
c.8217+4G>A (n.8217+4G>A)
c.8145+4G>A (n.8145+4G>A)
n.10558+4G>A
n.9547+4G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039432T>GCA6546896KMT2Dc.8229+3A>C (n.8229+3A>C)
c.8238+3A>C (n.8238+3A>C)
c.2248+3A>C
c.1902+3A>C (n.1902+3A>C)
c.2338+3A>C
c.8226+3A>C (n.8226+3A>C)
c.8235+3A>C (n.8235+3A>C)
c.8217+3A>C (n.8217+3A>C)
c.8145+3A>C (n.8145+3A>C)
n.10558+3A>C
n.9547+3A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039432T=CA2034959409KMT2Dc.8229+3A= (n.8229+3A=)
c.8238+3A= (n.8238+3A=)
c.2248+3A=
c.1902+3A= (n.1902+3A=)
c.2338+3A=
c.8226+3A= (n.8226+3A=)
c.8235+3A= (n.8235+3A=)
c.8217+3A= (n.8217+3A=)
c.8145+3A= (n.8145+3A=)
n.10558+3A=
n.9547+3A=
12g.49039433A>CCA384743228KMT2Dc.8229+2T>G (n.8229+2T>G)
c.8238+2T>G (n.8238+2T>G)
c.2248+2T>G
c.1902+2T>G (n.1902+2T>G)
c.2338+2T>G
c.8226+2T>G (n.8226+2T>G)
c.8235+2T>G (n.8235+2T>G)
c.8217+2T>G (n.8217+2T>G)
c.8145+2T>G (n.8145+2T>G)
n.10558+2T>G
n.9547+2T>G
 dbSNP
12g.49039433A>GCA384743230KMT2Dc.8229+2T>C (n.8229+2T>C)
c.8238+2T>C (n.8238+2T>C)
c.2248+2T>C
c.1902+2T>C (n.1902+2T>C)
c.2338+2T>C
c.8226+2T>C (n.8226+2T>C)
c.8235+2T>C (n.8235+2T>C)
c.8217+2T>C (n.8217+2T>C)
c.8145+2T>C (n.8145+2T>C)
n.10558+2T>C
n.9547+2T>C
 gnomAD v4
12g.49039433A>TCA384743231KMT2Dc.8229+2T>A (n.8229+2T>A)
c.8238+2T>A (n.8238+2T>A)
c.2248+2T>A
c.1902+2T>A (n.1902+2T>A)
c.2338+2T>A
c.8226+2T>A (n.8226+2T>A)
c.8235+2T>A (n.8235+2T>A)
c.8217+2T>A (n.8217+2T>A)
c.8145+2T>A (n.8145+2T>A)
n.10558+2T>A
n.9547+2T>A
12g.49039434C>ACA384743232KMT2Dc.8229+1G>T (n.8229+1G>T)
c.8238+1G>T (n.8238+1G>T)
c.2248+1G>T
c.1902+1G>T (n.1902+1G>T)
c.2338+1G>T
c.8226+1G>T (n.8226+1G>T)
c.8235+1G>T (n.8235+1G>T)
c.8217+1G>T (n.8217+1G>T)
c.8145+1G>T (n.8145+1G>T)
n.10558+1G>T
n.9547+1G>T
12g.49039434C=CA2034959414KMT2Dc.8229+1G= (n.8229+1G=)
c.8238+1G= (n.8238+1G=)
c.2248+1G=
c.1902+1G= (n.1902+1G=)
c.2338+1G=
c.8226+1G= (n.8226+1G=)
c.8235+1G= (n.8235+1G=)
c.8217+1G= (n.8217+1G=)
c.8145+1G= (n.8145+1G=)
n.10558+1G=
n.9547+1G=
12g.49039434C>GCA384743233KMT2Dc.8229+1G>C (n.8229+1G>C)
c.8238+1G>C (n.8238+1G>C)
c.2248+1G>C
c.1902+1G>C (n.1902+1G>C)
c.2338+1G>C
c.8226+1G>C (n.8226+1G>C)
c.8235+1G>C (n.8235+1G>C)
c.8217+1G>C (n.8217+1G>C)
c.8145+1G>C (n.8145+1G>C)
n.10558+1G>C
n.9547+1G>C
12g.49039434C>TCA384743234KMT2Dc.8229+1G>A (n.8229+1G>A)
c.8238+1G>A (n.8238+1G>A)
c.2248+1G>A
c.1902+1G>A (n.1902+1G>A)
c.2338+1G>A
c.8226+1G>A (n.8226+1G>A)
c.8235+1G>A (n.8235+1G>A)
c.8217+1G>A (n.8217+1G>A)
c.8145+1G>A (n.8145+1G>A)
n.10558+1G>A
n.9547+1G>A
 ClinVar dbSNP
12g.49039434_49039435delinsAACA645579666KMT2Dc.8229_8229+1delinsTT
c.8238_8238+1delinsTT
c.2248_2248+1delinsTT
c.1902_1902+1delinsTT
c.2338_2338+1delinsTT
c.8226_8226+1delinsTT
c.8235_8235+1delinsTT
c.8217_8217+1delinsTT
c.8145_8145+1delinsTT
n.10558_10558+1delinsTT
n.9547_9547+1delinsTT
 COSMIC COSMIC
12g.49039435C>ACA384743235KMT2Dc.8229G>T (p.Gln2743His)
c.8238G>T (p.Gln2746His)
c.2248G>T
c.1902G>T (p.Gln634His)
c.2338G>T
c.8226G>T (p.Gln2742His)
c.8235G>T (p.Gln2745His)
c.8217G>T (p.Gln2739His)
c.8145G>T (p.Gln2715His)
n.10558G>T
n.9547G>T
 gnomAD v4
12g.49039435C>GCA384743236KMT2Dc.8229G>C (p.Gln2743His)
c.8238G>C (p.Gln2746His)
c.2248G>C
c.1902G>C (p.Gln634His)
c.2338G>C
c.8226G>C (p.Gln2742His)
c.8235G>C (p.Gln2745His)
c.8217G>C (p.Gln2739His)
c.8145G>C (p.Gln2715His)
n.10558G>C
n.9547G>C
12g.49039435C>TCA479710833KMT2Dc.8229G>A (p.Gln2743=)
c.8238G>A (p.Gln2746=)
c.2248G>A
c.1902G>A (p.Gln634=)
c.2338G>A
c.8226G>A (p.Gln2742=)
c.8235G>A (p.Gln2745=)
c.8217G>A (p.Gln2739=)
c.8145G>A (p.Gln2715=)
n.10558G>A
n.9547G>A
12g.49039436T>ACA384743240KMT2Dc.8228A>T (p.Gln2743Leu)
c.8237A>T (p.Gln2746Leu)
c.2247A>T
c.1901A>T (p.Gln634Leu)
c.2337A>T
c.8225A>T (p.Gln2742Leu)
c.8234A>T (p.Gln2745Leu)
c.8216A>T (p.Gln2739Leu)
c.8144A>T (p.Gln2715Leu)
n.10557A>T
n.9546A>T
12g.49039436T>CCA384743238KMT2Dc.8228A>G (p.Gln2743Arg)
c.8237A>G (p.Gln2746Arg)
c.2247A>G
c.1901A>G (p.Gln634Arg)
c.2337A>G
c.8225A>G (p.Gln2742Arg)
c.8234A>G (p.Gln2745Arg)
c.8216A>G (p.Gln2739Arg)
c.8144A>G (p.Gln2715Arg)
n.10557A>G
n.9546A>G
 ClinVar dbSNP gnomAD v4
12g.49039436T>GCA384743237KMT2Dc.8228A>C (p.Gln2743Pro)
c.8237A>C (p.Gln2746Pro)
c.2247A>C
c.1901A>C (p.Gln634Pro)
c.2337A>C
c.8225A>C (p.Gln2742Pro)
c.8234A>C (p.Gln2745Pro)
c.8216A>C (p.Gln2739Pro)
c.8144A>C (p.Gln2715Pro)
n.10557A>C
n.9546A>C
12g.49039437G>ACA384743242KMT2Dc.8227C>T (p.Gln2743Ter)
c.8236C>T (p.Gln2746Ter)
c.2246C>T
c.1900C>T (p.Gln634Ter)
c.2336C>T
c.8224C>T (p.Gln2742Ter)
c.8233C>T (p.Gln2745Ter)
c.8215C>T (p.Gln2739Ter)
c.8143C>T (p.Gln2715Ter)
n.10556C>T
n.9545C>T
 dbSNP gnomAD v2 COSMIC COSMIC
12g.49039437G>CCA384743243KMT2Dc.8227C>G (p.Gln2743Glu)
c.8236C>G (p.Gln2746Glu)
c.2246C>G
c.1900C>G (p.Gln634Glu)
c.2336C>G
c.8224C>G (p.Gln2742Glu)
c.8233C>G (p.Gln2745Glu)
c.8215C>G (p.Gln2739Glu)
c.8143C>G (p.Gln2715Glu)
n.10556C>G
n.9545C>G
12g.49039437G=CA2034959423KMT2Dc.8227C= (p.Gln2743=)
c.8236C= (p.Gln2746=)
c.2246C=
c.1900C= (p.Gln634=)
c.2336C=
c.8224C= (p.Gln2742=)
c.8233C= (p.Gln2745=)
c.8215C= (p.Gln2739=)
c.8143C= (p.Gln2715=)
n.10556C=
n.9545C=
12g.49039437G>TCA384743245KMT2Dc.8227C>A (p.Gln2743Lys)
c.8236C>A (p.Gln2746Lys)
c.2246C>A
c.1900C>A (p.Gln634Lys)
c.2336C>A
c.8224C>A (p.Gln2742Lys)
c.8233C>A (p.Gln2745Lys)
c.8215C>A (p.Gln2739Lys)
c.8143C>A (p.Gln2715Lys)
n.10556C>A
n.9545C>A
12g.49039437dupCA2596225000KMT2Dc.8227dup (p.Gln2743ProfsTer26)
c.8236dup (p.Gln2746ProfsTer26)
c.2246dup
c.1900dup (p.Gln634ProfsTer26)
c.2336dup
c.8224dup (p.Gln2742ProfsTer26)
c.8233dup (p.Gln2745ProfsTer26)
c.8215dup (p.Gln2739ProfsTer26)
c.8143dup (p.Gln2715ProfsTer26)
n.10556dup
n.9545dup
 gnomAD v3
12g.49039438T>ACA479710838KMT2Dc.8226A>T (p.Thr2742=)
c.8235A>T (p.Thr2745=)
c.2245A>T
c.1899A>T (p.Thr633=)
c.2335A>T
c.8223A>T (p.Thr2741=)
c.8232A>T (p.Thr2744=)
c.8214A>T (p.Thr2738=)
c.8142A>T (p.Thr2714=)
n.10555A>T
n.9544A>T
12g.49039438T>CCA479710839KMT2Dc.8226A>G (p.Thr2742=)
c.8235A>G (p.Thr2745=)
c.2245A>G
c.1899A>G (p.Thr633=)
c.2335A>G
c.8223A>G (p.Thr2741=)
c.8232A>G (p.Thr2744=)
c.8214A>G (p.Thr2738=)
c.8142A>G (p.Thr2714=)
n.10555A>G
n.9544A>G
12g.49039438T>GCA479710840KMT2Dc.8226A>C (p.Thr2742=)
c.8235A>C (p.Thr2745=)
c.2245A>C
c.1899A>C (p.Thr633=)
c.2335A>C
c.8223A>C (p.Thr2741=)
c.8232A>C (p.Thr2744=)
c.8214A>C (p.Thr2738=)
c.8142A>C (p.Thr2714=)
n.10555A>C
n.9544A>C
12g.49039439G>ACA384743248KMT2Dc.8225C>T (p.Thr2742Ile)
c.8234C>T (p.Thr2745Ile)
c.2244C>T
c.1898C>T (p.Thr633Ile)
c.2334C>T
c.8222C>T (p.Thr2741Ile)
c.8231C>T (p.Thr2744Ile)
c.8213C>T (p.Thr2738Ile)
c.8141C>T (p.Thr2714Ile)
n.10554C>T
n.9543C>T
 gnomAD v4
12g.49039439G>CCA384743249KMT2Dc.8225C>G (p.Thr2742Arg)
c.8234C>G (p.Thr2745Arg)
c.2244C>G
c.1898C>G (p.Thr633Arg)
c.2334C>G
c.8222C>G (p.Thr2741Arg)
c.8231C>G (p.Thr2744Arg)
c.8213C>G (p.Thr2738Arg)
c.8141C>G (p.Thr2714Arg)
n.10554C>G
n.9543C>G
12g.49039439G>TCA384743251KMT2Dc.8225C>A (p.Thr2742Lys)
c.8234C>A (p.Thr2745Lys)
c.2244C>A
c.1898C>A (p.Thr633Lys)
c.2334C>A
c.8222C>A (p.Thr2741Lys)
c.8231C>A (p.Thr2744Lys)
c.8213C>A (p.Thr2738Lys)
c.8141C>A (p.Thr2714Lys)
n.10554C>A
n.9543C>A
12g.49039440T>ACA384743253KMT2Dc.8224A>T (p.Thr2742Ser)
c.8233A>T (p.Thr2745Ser)
c.2243A>T
c.1897A>T (p.Thr633Ser)
c.2333A>T
c.8221A>T (p.Thr2741Ser)
c.8230A>T (p.Thr2744Ser)
c.8212A>T (p.Thr2738Ser)
c.8140A>T (p.Thr2714Ser)
n.10553A>T
n.9542A>T
12g.49039440T>CCA384743255KMT2Dc.8224A>G (p.Thr2742Ala)
c.8233A>G (p.Thr2745Ala)
c.2243A>G
c.1897A>G (p.Thr633Ala)
c.2333A>G
c.8221A>G (p.Thr2741Ala)
c.8230A>G (p.Thr2744Ala)
c.8212A>G (p.Thr2738Ala)
c.8140A>G (p.Thr2714Ala)
n.10553A>G
n.9542A>G
12g.49039440T>GCA384743257KMT2Dc.8224A>C (p.Thr2742Pro)
c.8233A>C (p.Thr2745Pro)
c.2243A>C
c.1897A>C (p.Thr633Pro)
c.2333A>C
c.8221A>C (p.Thr2741Pro)
c.8230A>C (p.Thr2744Pro)
c.8212A>C (p.Thr2738Pro)
c.8140A>C (p.Thr2714Pro)
n.10553A>C
n.9542A>C
12g.49039441C>ACA479710842KMT2Dc.8223G>T (p.Gly2741=)
c.8232G>T (p.Gly2744=)
c.2242G>T
c.1896G>T (p.Gly632=)
c.2332G>T
c.8220G>T (p.Gly2740=)
c.8229G>T (p.Gly2743=)
c.8211G>T (p.Gly2737=)
c.8139G>T (p.Gly2713=)
n.10552G>T
n.9541G>T
12g.49039441C>GCA479710843KMT2Dc.8223G>C (p.Gly2741=)
c.8232G>C (p.Gly2744=)
c.2242G>C
c.1896G>C (p.Gly632=)
c.2332G>C
c.8220G>C (p.Gly2740=)
c.8229G>C (p.Gly2743=)
c.8211G>C (p.Gly2737=)
c.8139G>C (p.Gly2713=)
n.10552G>C
n.9541G>C
12g.49039441C>TCA479710844KMT2Dc.8223G>A (p.Gly2741=)
c.8232G>A (p.Gly2744=)
c.2242G>A
c.1896G>A (p.Gly632=)
c.2332G>A
c.8220G>A (p.Gly2740=)
c.8229G>A (p.Gly2743=)
c.8211G>A (p.Gly2737=)
c.8139G>A (p.Gly2713=)
n.10552G>A
n.9541G>A
 gnomAD v4
12g.49039442C>ACA384743262KMT2Dc.8222G>T (p.Gly2741Val)
c.8231G>T (p.Gly2744Val)
c.2241G>T
c.1895G>T (p.Gly632Val)
c.2331G>T
c.8219G>T (p.Gly2740Val)
c.8228G>T (p.Gly2743Val)
c.8210G>T (p.Gly2737Val)
c.8138G>T (p.Gly2713Val)
n.10551G>T
n.9540G>T
 gnomAD v4
12g.49039442C>GCA384743264KMT2Dc.8222G>C (p.Gly2741Ala)
c.8231G>C (p.Gly2744Ala)
c.2241G>C
c.1895G>C (p.Gly632Ala)
c.2331G>C
c.8219G>C (p.Gly2740Ala)
c.8228G>C (p.Gly2743Ala)
c.8210G>C (p.Gly2737Ala)
c.8138G>C (p.Gly2713Ala)
n.10551G>C
n.9540G>C
 dbSNP
12g.49039442C>TCA384743265KMT2Dc.8222G>A (p.Gly2741Glu)
c.8231G>A (p.Gly2744Glu)
c.2241G>A
c.1895G>A (p.Gly632Glu)
c.2331G>A
c.8219G>A (p.Gly2740Glu)
c.8228G>A (p.Gly2743Glu)
c.8210G>A (p.Gly2737Glu)
c.8138G>A (p.Gly2713Glu)
n.10551G>A
n.9540G>A
 gnomAD v4
12g.49039443C>ACA384743271KMT2Dc.8221G>T (p.Gly2741Trp)
c.8230G>T (p.Gly2744Trp)
c.2240G>T
c.1894G>T (p.Gly632Trp)
c.2330G>T
c.8218G>T (p.Gly2740Trp)
c.8227G>T (p.Gly2743Trp)
c.8209G>T (p.Gly2737Trp)
c.8137G>T (p.Gly2713Trp)
n.10550G>T
n.9539G>T
12g.49039443C>GCA384743273KMT2Dc.8221G>C (p.Gly2741Arg)
c.8230G>C (p.Gly2744Arg)
c.2240G>C
c.1894G>C (p.Gly632Arg)
c.2330G>C
c.8218G>C (p.Gly2740Arg)
c.8227G>C (p.Gly2743Arg)
c.8209G>C (p.Gly2737Arg)
c.8137G>C (p.Gly2713Arg)
n.10550G>C
n.9539G>C
12g.49039443C>TCA384743267KMT2Dc.8221G>A (p.Gly2741Arg)
c.8230G>A (p.Gly2744Arg)
c.2240G>A
c.1894G>A (p.Gly632Arg)
c.2330G>A
c.8218G>A (p.Gly2740Arg)
c.8227G>A (p.Gly2743Arg)
c.8209G>A (p.Gly2737Arg)
c.8137G>A (p.Gly2713Arg)
n.10550G>A
n.9539G>A
12g.49039444A>CCA479710846KMT2Dc.8220T>G (p.Ala2740=)
c.8229T>G (p.Ala2743=)
c.2239T>G
c.1893T>G (p.Ala631=)
c.2329T>G
c.8217T>G (p.Ala2739=)
c.8226T>G (p.Ala2742=)
c.8208T>G (p.Ala2736=)
c.8136T>G (p.Ala2712=)
n.10549T>G
n.9538T>G
12g.49039444A>GCA479710847KMT2Dc.8220T>C (p.Ala2740=)
c.8229T>C (p.Ala2743=)
c.2239T>C
c.1893T>C (p.Ala631=)
c.2329T>C
c.8217T>C (p.Ala2739=)
c.8226T>C (p.Ala2742=)
c.8208T>C (p.Ala2736=)
c.8136T>C (p.Ala2712=)
n.10549T>C
n.9538T>C
12g.49039444A>TCA479710848KMT2Dc.8220T>A (p.Ala2740=)
c.8229T>A (p.Ala2743=)
c.2239T>A
c.1893T>A (p.Ala631=)
c.2329T>A
c.8217T>A (p.Ala2739=)
c.8226T>A (p.Ala2742=)
c.8208T>A (p.Ala2736=)
c.8136T>A (p.Ala2712=)
n.10549T>A
n.9538T>A
12g.49039445G>ACA384743285KMT2Dc.8219C>T (p.Ala2740Val)
c.8228C>T (p.Ala2743Val)
c.2238C>T
c.1892C>T (p.Ala631Val)
c.2328C>T
c.8216C>T (p.Ala2739Val)
c.8225C>T (p.Ala2742Val)
c.8207C>T (p.Ala2736Val)
c.8135C>T (p.Ala2712Val)
n.10548C>T
n.9537C>T
 dbSNP gnomAD v4
12g.49039445G>CCA384743287KMT2Dc.8219C>G (p.Ala2740Gly)
c.8228C>G (p.Ala2743Gly)
c.2238C>G
c.1892C>G (p.Ala631Gly)
c.2328C>G
c.8216C>G (p.Ala2739Gly)
c.8225C>G (p.Ala2742Gly)
c.8207C>G (p.Ala2736Gly)
c.8135C>G (p.Ala2712Gly)
n.10548C>G
n.9537C>G
 dbSNP
12g.49039445G>TCA384743288KMT2Dc.8219C>A (p.Ala2740Asp)
c.8228C>A (p.Ala2743Asp)
c.2238C>A
c.1892C>A (p.Ala631Asp)
c.2328C>A
c.8216C>A (p.Ala2739Asp)
c.8225C>A (p.Ala2742Asp)
c.8207C>A (p.Ala2736Asp)
c.8135C>A (p.Ala2712Asp)
n.10548C>A
n.9537C>A
12g.49039446C>ACA384743289KMT2Dc.8218G>T (p.Ala2740Ser)
c.8227G>T (p.Ala2743Ser)
c.2237G>T
c.1891G>T (p.Ala631Ser)
c.2327G>T
c.8215G>T (p.Ala2739Ser)
c.8224G>T (p.Ala2742Ser)
c.8206G>T (p.Ala2736Ser)
c.8134G>T (p.Ala2712Ser)
n.10547G>T
n.9536G>T
 gnomAD v4
12g.49039446C>GCA384743290KMT2Dc.8218G>C (p.Ala2740Pro)
c.8227G>C (p.Ala2743Pro)
c.2237G>C
c.1891G>C (p.Ala631Pro)
c.2327G>C
c.8215G>C (p.Ala2739Pro)
c.8224G>C (p.Ala2742Pro)
c.8206G>C (p.Ala2736Pro)
c.8134G>C (p.Ala2712Pro)
n.10547G>C
n.9536G>C
 dbSNP
12g.49039446C>TCA384743291KMT2Dc.8218G>A (p.Ala2740Thr)
c.8227G>A (p.Ala2743Thr)
c.2237G>A
c.1891G>A (p.Ala631Thr)
c.2327G>A
c.8215G>A (p.Ala2739Thr)
c.8224G>A (p.Ala2742Thr)
c.8206G>A (p.Ala2736Thr)
c.8134G>A (p.Ala2712Thr)
n.10547G>A
n.9536G>A
12g.49039447A>CCA384743292KMT2Dc.8217T>G (p.Phe2739Leu)
c.8226T>G (p.Phe2742Leu)
c.2236T>G
c.1890T>G (p.Phe630Leu)
c.2326T>G
c.8214T>G (p.Phe2738Leu)
c.8223T>G (p.Phe2741Leu)
c.8205T>G (p.Phe2735Leu)
c.8133T>G (p.Phe2711Leu)
n.10546T>G
n.9535T>G
12g.49039447A>GCA479710855KMT2Dc.8217T>C (p.Phe2739=)
c.8226T>C (p.Phe2742=)
c.2236T>C
c.1890T>C (p.Phe630=)
c.2326T>C
c.8214T>C (p.Phe2738=)
c.8223T>C (p.Phe2741=)
c.8205T>C (p.Phe2735=)
c.8133T>C (p.Phe2711=)
n.10546T>C
n.9535T>C
 gnomAD v4
12g.49039447A>TCA384743293KMT2Dc.8217T>A (p.Phe2739Leu)
c.8226T>A (p.Phe2742Leu)
c.2236T>A
c.1890T>A (p.Phe630Leu)
c.2326T>A
c.8214T>A (p.Phe2738Leu)
c.8223T>A (p.Phe2741Leu)
c.8205T>A (p.Phe2735Leu)
c.8133T>A (p.Phe2711Leu)
n.10546T>A
n.9535T>A
12g.49039448A>CCA384743294KMT2Dc.8216T>G (p.Phe2739Cys)
c.8225T>G (p.Phe2742Cys)
c.2235T>G
c.1889T>G (p.Phe630Cys)
c.2325T>G
c.8213T>G (p.Phe2738Cys)
c.8222T>G (p.Phe2741Cys)
c.8204T>G (p.Phe2735Cys)
c.8132T>G (p.Phe2711Cys)
n.10545T>G
n.9534T>G
12g.49039448A>GCA384743295KMT2Dc.8216T>C (p.Phe2739Ser)
c.8225T>C (p.Phe2742Ser)
c.2235T>C
c.1889T>C (p.Phe630Ser)
c.2325T>C
c.8213T>C (p.Phe2738Ser)
c.8222T>C (p.Phe2741Ser)
c.8204T>C (p.Phe2735Ser)
c.8132T>C (p.Phe2711Ser)
n.10545T>C
n.9534T>C
12g.49039448A>TCA384743296KMT2Dc.8216T>A (p.Phe2739Tyr)
c.8225T>A (p.Phe2742Tyr)
c.2235T>A
c.1889T>A (p.Phe630Tyr)
c.2325T>A
c.8213T>A (p.Phe2738Tyr)
c.8222T>A (p.Phe2741Tyr)
c.8204T>A (p.Phe2735Tyr)
c.8132T>A (p.Phe2711Tyr)
n.10545T>A
n.9534T>A
12g.49039449A>CCA384743299KMT2Dc.8215T>G (p.Phe2739Val)
c.8224T>G (p.Phe2742Val)
c.2234T>G
c.1888T>G (p.Phe630Val)
c.2324T>G
c.8212T>G (p.Phe2738Val)
c.8221T>G (p.Phe2741Val)
c.8203T>G (p.Phe2735Val)
c.8131T>G (p.Phe2711Val)
n.10544T>G
n.9533T>G
12g.49039449A>GCA384743300KMT2Dc.8215T>C (p.Phe2739Leu)
c.8224T>C (p.Phe2742Leu)
c.2234T>C
c.1888T>C (p.Phe630Leu)
c.2324T>C
c.8212T>C (p.Phe2738Leu)
c.8221T>C (p.Phe2741Leu)
c.8203T>C (p.Phe2735Leu)
c.8131T>C (p.Phe2711Leu)
n.10544T>C
n.9533T>C
12g.49039449A>TCA384743297KMT2Dc.8215T>A (p.Phe2739Ile)
c.8224T>A (p.Phe2742Ile)
c.2234T>A
c.1888T>A (p.Phe630Ile)
c.2324T>A
c.8212T>A (p.Phe2738Ile)
c.8221T>A (p.Phe2741Ile)
c.8203T>A (p.Phe2735Ile)
c.8131T>A (p.Phe2711Ile)
n.10544T>A
n.9533T>A
12g.49039449_49039450delinsAGCA2034959427KMT2Dc.8214_8215delinsCT (p.Pro2738=)
c.8223_8224delinsCT (p.Pro2741=)
c.2233_2234delinsCT
c.1887_1888delinsCT (p.Pro629=)
c.2323_2324delinsCT
c.8211_8212delinsCT (p.Pro2737=)
c.8220_8221delinsCT (p.Pro2740=)
c.8202_8203delinsCT (p.Pro2734=)
c.8130_8131delinsCT (p.Pro2710=)
n.10543_10544delinsCT
n.9532_9533delinsCT
12g.49039450G>ACA479710857KMT2Dc.8214C>T (p.Pro2738=)
c.8223C>T (p.Pro2741=)
c.2233C>T
c.1887C>T (p.Pro629=)
c.2323C>T
c.8211C>T (p.Pro2737=)
c.8220C>T (p.Pro2740=)
c.8202C>T (p.Pro2734=)
c.8130C>T (p.Pro2710=)
n.10543C>T
n.9532C>T
 gnomAD v4
12g.49039450G>CCA479710858KMT2Dc.8214C>G (p.Pro2738=)
c.8223C>G (p.Pro2741=)
c.2233C>G
c.1887C>G (p.Pro629=)
c.2323C>G
c.8211C>G (p.Pro2737=)
c.8220C>G (p.Pro2740=)
c.8202C>G (p.Pro2734=)
c.8130C>G (p.Pro2710=)
n.10543C>G
n.9532C>G
12g.49039450G>TCA479710859KMT2Dc.8214C>A (p.Pro2738=)
c.8223C>A (p.Pro2741=)
c.2233C>A
c.1887C>A (p.Pro629=)
c.2323C>A
c.8211C>A (p.Pro2737=)
c.8220C>A (p.Pro2740=)
c.8202C>A (p.Pro2734=)
c.8130C>A (p.Pro2710=)
n.10543C>A
n.9532C>A
12g.49039454dupCA645579667KMT2Dc.8214dup (p.Phe2739LeufsTer30)
c.8223dup (p.Phe2742LeufsTer30)
c.2233dup
c.1887dup (p.Phe630LeufsTer30)
c.2323dup
c.8211dup (p.Phe2738LeufsTer30)
c.8220dup (p.Phe2741LeufsTer30)
c.8202dup (p.Phe2735LeufsTer30)
c.8130dup (p.Phe2711LeufsTer30)
n.10543dup
n.9532dup
 COSMIC COSMIC
12g.49039454delCA913190449KMT2Dc.8214del (p.Phe2739LeufsTer18)
c.8223del (p.Phe2742LeufsTer18)
c.2233del
c.1887del (p.Phe630LeufsTer18)
c.2323del
c.8211del (p.Phe2738LeufsTer18)
c.8220del (p.Phe2741LeufsTer18)
c.8202del (p.Phe2735LeufsTer18)
c.8130del (p.Phe2711LeufsTer18)
n.10543del
n.9532del
 ClinVar dbSNP
12g.49039451G>ACA384743304KMT2Dc.8213C>T (p.Pro2738Leu)
c.8222C>T (p.Pro2741Leu)
c.2232C>T
c.1886C>T (p.Pro629Leu)
c.2322C>T
c.8210C>T (p.Pro2737Leu)
c.8219C>T (p.Pro2740Leu)
c.8201C>T (p.Pro2734Leu)
c.8129C>T (p.Pro2710Leu)
n.10542C>T
n.9531C>T
 ClinVar dbSNP gnomAD v4
12g.49039451G>CCA384743309KMT2Dc.8213C>G (p.Pro2738Arg)
c.8222C>G (p.Pro2741Arg)
c.2232C>G
c.1886C>G (p.Pro629Arg)
c.2322C>G
c.8210C>G (p.Pro2737Arg)
c.8219C>G (p.Pro2740Arg)
c.8201C>G (p.Pro2734Arg)
c.8129C>G (p.Pro2710Arg)
n.10542C>G
n.9531C>G
 dbSNP
12g.49039451G=CA2034959435KMT2Dc.8213C= (p.Pro2738=)
c.8222C= (p.Pro2741=)
c.2232C=
c.1886C= (p.Pro629=)
c.2322C=
c.8210C= (p.Pro2737=)
c.8219C= (p.Pro2740=)
c.8201C= (p.Pro2734=)
c.8129C= (p.Pro2710=)
n.10542C=
n.9531C=
12g.49039451G>TCA384743311KMT2Dc.8213C>A (p.Pro2738His)
c.8222C>A (p.Pro2741His)
c.2232C>A
c.1886C>A (p.Pro629His)
c.2322C>A
c.8210C>A (p.Pro2737His)
c.8219C>A (p.Pro2740His)
c.8201C>A (p.Pro2734His)
c.8129C>A (p.Pro2710His)
n.10542C>A
n.9531C>A
 dbSNP
12g.49039452G>ACA384743318KMT2Dc.8212C>T (p.Pro2738Ser)
c.8221C>T (p.Pro2741Ser)
c.2231C>T
c.1885C>T (p.Pro629Ser)
c.2321C>T
c.8209C>T (p.Pro2737Ser)
c.8218C>T (p.Pro2740Ser)
c.8200C>T (p.Pro2734Ser)
c.8128C>T (p.Pro2710Ser)
n.10541C>T
n.9530C>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039452G>CCA384743320KMT2Dc.8212C>G (p.Pro2738Ala)
c.8221C>G (p.Pro2741Ala)
c.2231C>G
c.1885C>G (p.Pro629Ala)
c.2321C>G
c.8209C>G (p.Pro2737Ala)
c.8218C>G (p.Pro2740Ala)
c.8200C>G (p.Pro2734Ala)
c.8128C>G (p.Pro2710Ala)
n.10541C>G
n.9530C>G
 dbSNP
12g.49039452G=CA2034959441KMT2Dc.8212C= (p.Pro2738=)
c.8221C= (p.Pro2741=)
c.2231C=
c.1885C= (p.Pro629=)
c.2321C=
c.8209C= (p.Pro2737=)
c.8218C= (p.Pro2740=)
c.8200C= (p.Pro2734=)
c.8128C= (p.Pro2710=)
n.10541C=
n.9530C=
12g.49039452G>TCA384743322KMT2Dc.8212C>A (p.Pro2738Thr)
c.8221C>A (p.Pro2741Thr)
c.2231C>A
c.1885C>A (p.Pro629Thr)
c.2321C>A
c.8209C>A (p.Pro2737Thr)
c.8218C>A (p.Pro2740Thr)
c.8200C>A (p.Pro2734Thr)
c.8128C>A (p.Pro2710Thr)
n.10541C>A
n.9530C>A
 dbSNP
12g.49039453G>ACA6546897KMT2Dc.8211C>T (p.Thr2737=)
c.8220C>T (p.Thr2740=)
c.2230C>T
c.1884C>T (p.Thr628=)
c.2320C>T
c.8208C>T (p.Thr2736=)
c.8217C>T (p.Thr2739=)
c.8199C>T (p.Thr2733=)
c.8127C>T (p.Thr2709=)
n.10540C>T
n.9529C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039453G>CCA479710864KMT2Dc.8211C>G (p.Thr2737=)
c.8220C>G (p.Thr2740=)
c.2230C>G
c.1884C>G (p.Thr628=)
c.2320C>G
c.8208C>G (p.Thr2736=)
c.8217C>G (p.Thr2739=)
c.8199C>G (p.Thr2733=)
c.8127C>G (p.Thr2709=)
n.10540C>G
n.9529C>G
 dbSNP
12g.49039453G=CA2034959449KMT2Dc.8211C= (p.Thr2737=)
c.8220C= (p.Thr2740=)
c.2230C=
c.1884C= (p.Thr628=)
c.2320C=
c.8208C= (p.Thr2736=)
c.8217C= (p.Thr2739=)
c.8199C= (p.Thr2733=)
c.8127C= (p.Thr2709=)
n.10540C=
n.9529C=
12g.49039453G>TCA6546898KMT2Dc.8211C>A (p.Thr2737=)
c.8220C>A (p.Thr2740=)
c.2230C>A
c.1884C>A (p.Thr628=)
c.2320C>A
c.8208C>A (p.Thr2736=)
c.8217C>A (p.Thr2739=)
c.8199C>A (p.Thr2733=)
c.8127C>A (p.Thr2709=)
n.10540C>A
n.9529C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039454G>ACA6546899KMT2Dc.8210C>T (p.Thr2737Ile)
c.8219C>T (p.Thr2740Ile)
c.2229C>T
c.1883C>T (p.Thr628Ile)
c.2319C>T
c.8207C>T (p.Thr2736Ile)
c.8216C>T (p.Thr2739Ile)
c.8198C>T (p.Thr2733Ile)
c.8126C>T (p.Thr2709Ile)
n.10539C>T
n.9528C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.49039454G>CCA384743332KMT2Dc.8210C>G (p.Thr2737Ser)
c.8219C>G (p.Thr2740Ser)
c.2229C>G
c.1883C>G (p.Thr628Ser)
c.2319C>G
c.8207C>G (p.Thr2736Ser)
c.8216C>G (p.Thr2739Ser)
c.8198C>G (p.Thr2733Ser)
c.8126C>G (p.Thr2709Ser)
n.10539C>G
n.9528C>G
 gnomAD v4
12g.49039454G=CA2034959459KMT2Dc.8210C= (p.Thr2737=)
c.8219C= (p.Thr2740=)
c.2229C=
c.1883C= (p.Thr628=)
c.2319C=
c.8207C= (p.Thr2736=)
c.8216C= (p.Thr2739=)
c.8198C= (p.Thr2733=)
c.8126C= (p.Thr2709=)
n.10539C=
n.9528C=
12g.49039454G>TCA384743336KMT2Dc.8210C>A (p.Thr2737Asn)
c.8219C>A (p.Thr2740Asn)
c.2229C>A
c.1883C>A (p.Thr628Asn)
c.2319C>A
c.8207C>A (p.Thr2736Asn)
c.8216C>A (p.Thr2739Asn)
c.8198C>A (p.Thr2733Asn)
c.8126C>A (p.Thr2709Asn)
n.10539C>A
n.9528C>A
 dbSNP gnomAD v4
12g.49039455_49039458dupCA658656292KMT2Dc.8207_8210dup (p.Pro2738AspfsTer?)
c.8216_8219dup (p.Pro2741AspfsTer?)
c.2226_2229dup
c.1880_1883dup (p.Pro629AspfsTer?)
c.2316_2319dup
c.8204_8207dup (p.Pro2737AspfsTer?)
c.8213_8216dup (p.Pro2740AspfsTer?)
c.8195_8198dup (p.Pro2734AspfsTer?)
c.8123_8126dup (p.Pro2710AspfsTer?)
n.10536_10539dup
n.9525_9528dup
 ClinVar dbSNP
12g.49039455T>ACA384743338KMT2Dc.8209A>T (p.Thr2737Ser)
c.8218A>T (p.Thr2740Ser)
c.2228A>T
c.1882A>T (p.Thr628Ser)
c.2318A>T
c.8206A>T (p.Thr2736Ser)
c.8215A>T (p.Thr2739Ser)
c.8197A>T (p.Thr2733Ser)
c.8125A>T (p.Thr2709Ser)
n.10538A>T
n.9527A>T
 dbSNP
12g.49039455T>CCA384743341KMT2Dc.8209A>G (p.Thr2737Ala)
c.8218A>G (p.Thr2740Ala)
c.2228A>G
c.1882A>G (p.Thr628Ala)
c.2318A>G
c.8206A>G (p.Thr2736Ala)
c.8215A>G (p.Thr2739Ala)
c.8197A>G (p.Thr2733Ala)
c.8125A>G (p.Thr2709Ala)
n.10538A>G
n.9527A>G
12g.49039455T>GCA384743344KMT2Dc.8209A>C (p.Thr2737Pro)
c.8218A>C (p.Thr2740Pro)
c.2228A>C
c.1882A>C (p.Thr628Pro)
c.2318A>C
c.8206A>C (p.Thr2736Pro)
c.8215A>C (p.Thr2739Pro)
c.8197A>C (p.Thr2733Pro)
c.8125A>C (p.Thr2709Pro)
n.10538A>C
n.9527A>C
 dbSNP
12g.49039456C>ACA384743348KMT2Dc.8208G>T (p.Gln2736His)
c.8217G>T (p.Gln2739His)
c.2227G>T
c.1881G>T (p.Gln627His)
c.2317G>T
c.8205G>T (p.Gln2735His)
c.8214G>T (p.Gln2738His)
c.8196G>T (p.Gln2732His)
c.8124G>T (p.Gln2708His)
n.10537G>T
n.9526G>T
 dbSNP
12g.49039456C>GCA384743346KMT2Dc.8208G>C (p.Gln2736His)
c.8217G>C (p.Gln2739His)
c.2227G>C
c.1881G>C (p.Gln627His)
c.2317G>C
c.8205G>C (p.Gln2735His)
c.8214G>C (p.Gln2738His)
c.8196G>C (p.Gln2732His)
c.8124G>C (p.Gln2708His)
n.10537G>C
n.9526G>C
 dbSNP
12g.49039456C>TCA479710868KMT2Dc.8208G>A (p.Gln2736=)
c.8217G>A (p.Gln2739=)
c.2227G>A
c.1881G>A (p.Gln627=)
c.2317G>A
c.8205G>A (p.Gln2735=)
c.8214G>A (p.Gln2738=)
c.8196G>A (p.Gln2732=)
c.8124G>A (p.Gln2708=)
n.10537G>A
n.9526G>A
 dbSNP gnomAD v4
12g.49039457T>ACA384743349KMT2Dc.8207A>T (p.Gln2736Leu)
c.8216A>T (p.Gln2739Leu)
c.2226A>T
c.1880A>T (p.Gln627Leu)
c.2316A>T
c.8204A>T (p.Gln2735Leu)
c.8213A>T (p.Gln2738Leu)
c.8195A>T (p.Gln2732Leu)
c.8123A>T (p.Gln2708Leu)
n.10536A>T
n.9525A>T
12g.49039457T>CCA384743351KMT2Dc.8207A>G (p.Gln2736Arg)
c.8216A>G (p.Gln2739Arg)
c.2226A>G
c.1880A>G (p.Gln627Arg)
c.2316A>G
c.8204A>G (p.Gln2735Arg)
c.8213A>G (p.Gln2738Arg)
c.8195A>G (p.Gln2732Arg)
c.8123A>G (p.Gln2708Arg)
n.10536A>G
n.9525A>G
 dbSNP
12g.49039457T>GCA384743350KMT2Dc.8207A>C (p.Gln2736Pro)
c.8216A>C (p.Gln2739Pro)
c.2226A>C
c.1880A>C (p.Gln627Pro)
c.2316A>C
c.8204A>C (p.Gln2735Pro)
c.8213A>C (p.Gln2738Pro)
c.8195A>C (p.Gln2732Pro)
c.8123A>C (p.Gln2708Pro)
n.10536A>C
n.9525A>C
12g.49039458G>ACA384743354KMT2Dc.8206C>T (p.Gln2736Ter)
c.8215C>T (p.Gln2739Ter)
c.2225C>T
c.1879C>T (p.Gln627Ter)
c.2315C>T
c.8203C>T (p.Gln2735Ter)
c.8212C>T (p.Gln2738Ter)
c.8194C>T (p.Gln2732Ter)
c.8122C>T (p.Gln2708Ter)
n.10535C>T
n.9524C>T
 dbSNP COSMIC COSMIC
12g.49039458G>CCA384743356KMT2Dc.8206C>G (p.Gln2736Glu)
c.8215C>G (p.Gln2739Glu)
c.2225C>G
c.1879C>G (p.Gln627Glu)
c.2315C>G
c.8203C>G (p.Gln2735Glu)
c.8212C>G (p.Gln2738Glu)
c.8194C>G (p.Gln2732Glu)
c.8122C>G (p.Gln2708Glu)
n.10535C>G
n.9524C>G
12g.49039458G>TCA384743360KMT2Dc.8206C>A (p.Gln2736Lys)
c.8215C>A (p.Gln2739Lys)
c.2225C>A
c.1879C>A (p.Gln627Lys)
c.2315C>A
c.8203C>A (p.Gln2735Lys)
c.8212C>A (p.Gln2738Lys)
c.8194C>A (p.Gln2732Lys)
c.8122C>A (p.Gln2708Lys)
n.10535C>A
n.9524C>A
 dbSNP
12g.49039459G>ACA479710871KMT2Dc.8205C>T (p.Gly2735=)
c.8214C>T (p.Gly2738=)
c.2224C>T
c.1878C>T (p.Gly626=)
c.2314C>T
c.8202C>T (p.Gly2734=)
c.8211C>T (p.Gly2737=)
c.8193C>T (p.Gly2731=)
c.8121C>T (p.Gly2707=)
n.10534C>T
n.9523C>T
 dbSNP
12g.49039459G>CCA479710873KMT2Dc.8205C>G (p.Gly2735=)
c.8214C>G (p.Gly2738=)
c.2224C>G
c.1878C>G (p.Gly626=)
c.2314C>G
c.8202C>G (p.Gly2734=)
c.8211C>G (p.Gly2737=)
c.8193C>G (p.Gly2731=)
c.8121C>G (p.Gly2707=)
n.10534C>G
n.9523C>G
 dbSNP
12g.49039459G=CA2034959465KMT2Dc.8205C= (p.Gly2735=)
c.8214C= (p.Gly2738=)
c.2224C=
c.1878C= (p.Gly626=)
c.2314C=
c.8202C= (p.Gly2734=)
c.8211C= (p.Gly2737=)
c.8193C= (p.Gly2731=)
c.8121C= (p.Gly2707=)
n.10534C=
n.9523C=
12g.49039459G>TCA479710872KMT2Dc.8205C>A (p.Gly2735=)
c.8214C>A (p.Gly2738=)
c.2224C>A
c.1878C>A (p.Gly626=)
c.2314C>A
c.8202C>A (p.Gly2734=)
c.8211C>A (p.Gly2737=)
c.8193C>A (p.Gly2731=)
c.8121C>A (p.Gly2707=)
n.10534C>A
n.9523C>A
 gnomAD v4
12g.49039460C>ACA384743363KMT2Dc.8204G>T (p.Gly2735Val)
c.8213G>T (p.Gly2738Val)
c.2223G>T
c.1877G>T (p.Gly626Val)
c.2313G>T
c.8201G>T (p.Gly2734Val)
c.8210G>T (p.Gly2737Val)
c.8192G>T (p.Gly2731Val)
c.8120G>T (p.Gly2707Val)
n.10533G>T
n.9522G>T
12g.49039460C>GCA384743366KMT2Dc.8204G>C (p.Gly2735Ala)
c.8213G>C (p.Gly2738Ala)
c.2223G>C
c.1877G>C (p.Gly626Ala)
c.2313G>C
c.8201G>C (p.Gly2734Ala)
c.8210G>C (p.Gly2737Ala)
c.8192G>C (p.Gly2731Ala)
c.8120G>C (p.Gly2707Ala)
n.10533G>C
n.9522G>C
 dbSNP
12g.49039460C>TCA384743369KMT2Dc.8204G>A (p.Gly2735Asp)
c.8213G>A (p.Gly2738Asp)
c.2223G>A
c.1877G>A (p.Gly626Asp)
c.2313G>A
c.8201G>A (p.Gly2734Asp)
c.8210G>A (p.Gly2737Asp)
c.8192G>A (p.Gly2731Asp)
c.8120G>A (p.Gly2707Asp)
n.10533G>A
n.9522G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49039460_49039473delinsCCTCGACTCAGCTGCA2034959469KMT2Dc.8191_8204delinsCAGCTGAGTCGAGG (p.Gln2731=)
c.8200_8213delinsCAGCTGAGTCGAGG (p.Gln2734=)
c.2210_2223delinsCAGCTGAGTCGAGG
c.1864_1877delinsCAGCTGAGTCGAGG (p.Gln622=)
c.2300_2313delinsCAGCTGAGTCGAGG
c.8188_8201delinsCAGCTGAGTCGAGG (p.Gln2730=)
c.8197_8210delinsCAGCTGAGTCGAGG (p.Gln2733=)
c.8179_8192delinsCAGCTGAGTCGAGG (p.Gln2727=)
c.8107_8120delinsCAGCTGAGTCGAGG (p.Gln2703=)
n.10520_10533delinsCAGCTGAGTCGAGG
n.9509_9522delinsCAGCTGAGTCGAGG
12g.49039461C>ACA6546900KMT2Dc.8203G>T (p.Gly2735Cys)
c.8212G>T (p.Gly2738Cys)
c.2222G>T
c.1876G>T (p.Gly626Cys)
c.2312G>T
c.8200G>T (p.Gly2734Cys)
c.8209G>T (p.Gly2737Cys)
c.8191G>T (p.Gly2731Cys)
c.8119G>T (p.Gly2707Cys)
n.10532G>T
n.9521G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039461C=CA2034959474KMT2Dc.8203G= (p.Gly2735=)
c.8212G= (p.Gly2738=)
c.2222G=
c.1876G= (p.Gly626=)
c.2312G=
c.8200G= (p.Gly2734=)
c.8209G= (p.Gly2737=)
c.8191G= (p.Gly2731=)
c.8119G= (p.Gly2707=)
n.10532G=
n.9521G=
12g.49039461C>GCA384743374KMT2Dc.8203G>C (p.Gly2735Arg)
c.8212G>C (p.Gly2738Arg)
c.2222G>C
c.1876G>C (p.Gly626Arg)
c.2312G>C
c.8200G>C (p.Gly2734Arg)
c.8209G>C (p.Gly2737Arg)
c.8191G>C (p.Gly2731Arg)
c.8119G>C (p.Gly2707Arg)
n.10532G>C
n.9521G>C
12g.49039461C>TCA384743375KMT2Dc.8203G>A (p.Gly2735Ser)
c.8212G>A (p.Gly2738Ser)
c.2222G>A
c.1876G>A (p.Gly626Ser)
c.2312G>A
c.8200G>A (p.Gly2734Ser)
c.8209G>A (p.Gly2737Ser)
c.8191G>A (p.Gly2731Ser)
c.8119G>A (p.Gly2707Ser)
n.10532G>A
n.9521G>A
 ClinVar dbSNP gnomAD v4 COSMIC
12g.49039464_49039476delCA605233696KMT2Dc.8191_8203del (p.Gln2731AlafsTer22)
c.8200_8212del (p.Gln2734AlafsTer22)
c.2210_2222del
c.1864_1876del (p.Gln622AlafsTer22)
c.2300_2312del
c.8188_8200del (p.Gln2730AlafsTer22)
c.8197_8209del (p.Gln2733AlafsTer22)
c.8179_8191del (p.Gln2727AlafsTer22)
c.8107_8119del (p.Gln2703AlafsTer22)
n.10520_10532del
n.9509_9521del
 dbSNP gnomAD v2 gnomAD v4
12g.49039462delCA2618608393KMT2Dc.8202del (p.Gly2735AlafsTer22)
c.8211del (p.Gly2738AlafsTer22)
c.2221del
c.1875del (p.Gly626AlafsTer22)
c.2311del
c.8199del (p.Gly2734AlafsTer22)
c.8208del (p.Gly2737AlafsTer22)
c.8190del (p.Gly2731AlafsTer22)
c.8118del (p.Gly2707AlafsTer22)
n.10531del
n.9520del
 gnomAD v4
12g.49039462T>ACA479710880KMT2Dc.8202A>T (p.Arg2734=)
c.8211A>T (p.Arg2737=)
c.2221A>T
c.1875A>T (p.Arg625=)
c.2311A>T
c.8199A>T (p.Arg2733=)
c.8208A>T (p.Arg2736=)
c.8190A>T (p.Arg2730=)
c.8118A>T (p.Arg2706=)
n.10531A>T
n.9520A>T
12g.49039462T>CCA479710881KMT2Dc.8202A>G (p.Arg2734=)
c.8211A>G (p.Arg2737=)
c.2221A>G
c.1875A>G (p.Arg625=)
c.2311A>G
c.8199A>G (p.Arg2733=)
c.8208A>G (p.Arg2736=)
c.8190A>G (p.Arg2730=)
c.8118A>G (p.Arg2706=)
n.10531A>G
n.9520A>G
12g.49039462T>GCA479710882KMT2Dc.8202A>C (p.Arg2734=)
c.8211A>C (p.Arg2737=)
c.2221A>C
c.1875A>C (p.Arg625=)
c.2311A>C
c.8199A>C (p.Arg2733=)
c.8208A>C (p.Arg2736=)
c.8190A>C (p.Arg2730=)
c.8118A>C (p.Arg2706=)
n.10531A>C
n.9520A>C
12g.49039463C>ACA384743376KMT2Dc.8201G>T (p.Arg2734Leu)
c.8210G>T (p.Arg2737Leu)
c.2220G>T
c.1874G>T (p.Arg625Leu)
c.2310G>T
c.8198G>T (p.Arg2733Leu)
c.8207G>T (p.Arg2736Leu)
c.8189G>T (p.Arg2730Leu)
c.8117G>T (p.Arg2706Leu)
n.10530G>T
n.9519G>T
12g.49039463C=CA2034959478KMT2Dc.8201G= (p.Arg2734=)
c.8210G= (p.Arg2737=)
c.2220G=
c.1874G= (p.Arg625=)
c.2310G=
c.8198G= (p.Arg2733=)
c.8207G= (p.Arg2736=)
c.8189G= (p.Arg2730=)
c.8117G= (p.Arg2706=)
n.10530G=
n.9519G=
12g.49039463C>GCA384743378KMT2Dc.8201G>C (p.Arg2734Pro)
c.8210G>C (p.Arg2737Pro)
c.2220G>C
c.1874G>C (p.Arg625Pro)
c.2310G>C
c.8198G>C (p.Arg2733Pro)
c.8207G>C (p.Arg2736Pro)
c.8189G>C (p.Arg2730Pro)
c.8117G>C (p.Arg2706Pro)
n.10530G>C
n.9519G>C
12g.49039463C>TCA236646334KMT2Dc.8201G>A (p.Arg2734Gln)
c.8210G>A (p.Arg2737Gln)
c.2220G>A
c.1874G>A (p.Arg625Gln)
c.2310G>A
c.8198G>A (p.Arg2733Gln)
c.8207G>A (p.Arg2736Gln)
c.8189G>A (p.Arg2730Gln)
c.8117G>A (p.Arg2706Gln)
n.10530G>A
n.9519G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49039464G>ACA384743388KMT2Dc.8200C>T (p.Arg2734Ter)
c.8209C>T (p.Arg2737Ter)
c.2219C>T
c.1873C>T (p.Arg625Ter)
c.2309C>T
c.8197C>T (p.Arg2733Ter)
c.8206C>T (p.Arg2736Ter)
c.8188C>T (p.Arg2730Ter)
c.8116C>T (p.Arg2706Ter)
n.10529C>T
n.9518C>T
 ClinVar dbSNP COSMIC COSMIC
12g.49039464G>CCA384743382KMT2Dc.8200C>G (p.Arg2734Gly)
c.8209C>G (p.Arg2737Gly)
c.2219C>G
c.1873C>G (p.Arg625Gly)
c.2309C>G
c.8197C>G (p.Arg2733Gly)
c.8206C>G (p.Arg2736Gly)
c.8188C>G (p.Arg2730Gly)
c.8116C>G (p.Arg2706Gly)
n.10529C>G
n.9518C>G
 dbSNP gnomAD v4
12g.49039464G=CA2034959487KMT2Dc.8200C= (p.Arg2734=)
c.8209C= (p.Arg2737=)
c.2219C=
c.1873C= (p.Arg625=)
c.2309C=
c.8197C= (p.Arg2733=)
c.8206C= (p.Arg2736=)
c.8188C= (p.Arg2730=)
c.8116C= (p.Arg2706=)
n.10529C=
n.9518C=
12g.49039464G>TCA479710883KMT2Dc.8200C>A (p.Arg2734=)
c.8209C>A (p.Arg2737=)
c.2219C>A
c.1873C>A (p.Arg625=)
c.2309C>A
c.8197C>A (p.Arg2733=)
c.8206C>A (p.Arg2736=)
c.8188C>A (p.Arg2730=)
c.8116C>A (p.Arg2706=)
n.10529C>A
n.9518C>A
 dbSNP gnomAD v4
12g.49039464_49039465insGGGCA2618608394KMT2Dc.8200_8201insCCC (p.Ser2733_Arg2734insPro)
c.8209_8210insCCC (p.Ser2736_Arg2737insPro)
c.2219_2220insCCC
c.1873_1874insCCC (p.Ser624_Arg625insPro)
c.2309_2310insCCC
c.8197_8198insCCC (p.Ser2732_Arg2733insPro)
c.8206_8207insCCC (p.Ser2735_Arg2736insPro)
c.8188_8189insCCC (p.Ser2729_Arg2730insPro)
c.8116_8117insCCC (p.Ser2705_Arg2706insPro)
n.10529_10530insCCC
n.9518_9519insCCC
 gnomAD v4
12g.49039465A>CCA384743391KMT2Dc.8199T>G (p.Ser2733Arg)
c.8208T>G (p.Ser2736Arg)
c.2218T>G
c.1872T>G (p.Ser624Arg)
c.2308T>G
c.8196T>G (p.Ser2732Arg)
c.8205T>G (p.Ser2735Arg)
c.8187T>G (p.Ser2729Arg)
c.8115T>G (p.Ser2705Arg)
n.10528T>G
n.9517T>G
 gnomAD v4
12g.49039465A>GCA479710887KMT2Dc.8199T>C (p.Ser2733=)
c.8208T>C (p.Ser2736=)
c.2218T>C
c.1872T>C (p.Ser624=)
c.2308T>C
c.8196T>C (p.Ser2732=)
c.8205T>C (p.Ser2735=)
c.8187T>C (p.Ser2729=)
c.8115T>C (p.Ser2705=)
n.10528T>C
n.9517T>C
12g.49039465A>TCA384743393KMT2Dc.8199T>A (p.Ser2733Arg)
c.8208T>A (p.Ser2736Arg)
c.2218T>A
c.1872T>A (p.Ser624Arg)
c.2308T>A
c.8196T>A (p.Ser2732Arg)
c.8205T>A (p.Ser2735Arg)
c.8187T>A (p.Ser2729Arg)
c.8115T>A (p.Ser2705Arg)
n.10528T>A
n.9517T>A
12g.49039466C>ACA384743394KMT2Dc.8198G>T (p.Ser2733Ile)
c.8207G>T (p.Ser2736Ile)
c.2217G>T
c.1871G>T (p.Ser624Ile)
c.2307G>T
c.8195G>T (p.Ser2732Ile)
c.8204G>T (p.Ser2735Ile)
c.8186G>T (p.Ser2729Ile)
c.8114G>T (p.Ser2705Ile)
n.10527G>T
n.9516G>T
12g.49039466C=CA2034959492KMT2Dc.8198G= (p.Ser2733=)
c.8207G= (p.Ser2736=)
c.2217G=
c.1871G= (p.Ser624=)
c.2307G=
c.8195G= (p.Ser2732=)
c.8204G= (p.Ser2735=)
c.8186G= (p.Ser2729=)
c.8114G= (p.Ser2705=)
n.10527G=
n.9516G=
12g.49039466C>GCA6546901KMT2Dc.8198G>C (p.Ser2733Thr)
c.8207G>C (p.Ser2736Thr)
c.2217G>C
c.1871G>C (p.Ser624Thr)
c.2307G>C
c.8195G>C (p.Ser2732Thr)
c.8204G>C (p.Ser2735Thr)
c.8186G>C (p.Ser2729Thr)
c.8114G>C (p.Ser2705Thr)
n.10527G>C
n.9516G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039466C>TCA384743395KMT2Dc.8198G>A (p.Ser2733Asn)
c.8207G>A (p.Ser2736Asn)
c.2217G>A
c.1871G>A (p.Ser624Asn)
c.2307G>A
c.8195G>A (p.Ser2732Asn)
c.8204G>A (p.Ser2735Asn)
c.8186G>A (p.Ser2729Asn)
c.8114G>A (p.Ser2705Asn)
n.10527G>A
n.9516G>A
 gnomAD v4
12g.49039467T>ACA384743397KMT2Dc.8197A>T (p.Ser2733Cys)
c.8206A>T (p.Ser2736Cys)
c.2216A>T
c.1870A>T (p.Ser624Cys)
c.2306A>T
c.8194A>T (p.Ser2732Cys)
c.8203A>T (p.Ser2735Cys)
c.8185A>T (p.Ser2729Cys)
c.8113A>T (p.Ser2705Cys)
n.10526A>T
n.9515A>T
12g.49039467T>CCA384743398KMT2Dc.8197A>G (p.Ser2733Gly)
c.8206A>G (p.Ser2736Gly)
c.2216A>G
c.1870A>G (p.Ser624Gly)
c.2306A>G
c.8194A>G (p.Ser2732Gly)
c.8203A>G (p.Ser2735Gly)
c.8185A>G (p.Ser2729Gly)
c.8113A>G (p.Ser2705Gly)
n.10526A>G
n.9515A>G
12g.49039467T>GCA384743400KMT2Dc.8197A>C (p.Ser2733Arg)
c.8206A>C (p.Ser2736Arg)
c.2216A>C
c.1870A>C (p.Ser624Arg)
c.2306A>C
c.8194A>C (p.Ser2732Arg)
c.8203A>C (p.Ser2735Arg)
c.8185A>C (p.Ser2729Arg)
c.8113A>C (p.Ser2705Arg)
n.10526A>C
n.9515A>C
12g.49039468delCA2695216411KMT2Dc.8196del (p.Ser2733ValfsTer24)
c.8205del (p.Ser2736ValfsTer24)
c.2215del
c.1869del (p.Ser624ValfsTer24)
c.2305del
c.8193del (p.Ser2732ValfsTer24)
c.8202del (p.Ser2735ValfsTer24)
c.8184del (p.Ser2729ValfsTer24)
c.8112del (p.Ser2705ValfsTer24)
n.10525del
n.9514del
12g.49039468C>ACA479710893KMT2Dc.8196G>T (p.Leu2732=)
c.8205G>T (p.Leu2735=)
c.2215G>T
c.1869G>T (p.Leu623=)
c.2305G>T
c.8193G>T (p.Leu2731=)
c.8202G>T (p.Leu2734=)
c.8184G>T (p.Leu2728=)
c.8112G>T (p.Leu2704=)
n.10525G>T
n.9514G>T
12g.49039468C=CA2034959500KMT2Dc.8196G= (p.Leu2732=)
c.8205G= (p.Leu2735=)
c.2215G=
c.1869G= (p.Leu623=)
c.2305G=
c.8193G= (p.Leu2731=)
c.8202G= (p.Leu2734=)
c.8184G= (p.Leu2728=)
c.8112G= (p.Leu2704=)
n.10525G=
n.9514G=
12g.49039468C>GCA479710892KMT2Dc.8196G>C (p.Leu2732=)
c.8205G>C (p.Leu2735=)
c.2215G>C
c.1869G>C (p.Leu623=)
c.2305G>C
c.8193G>C (p.Leu2731=)
c.8202G>C (p.Leu2734=)
c.8184G>C (p.Leu2728=)
c.8112G>C (p.Leu2704=)
n.10525G>C
n.9514G>C
12g.49039468C>TCA479710891KMT2Dc.8196G>A (p.Leu2732=)
c.8205G>A (p.Leu2735=)
c.2215G>A
c.1869G>A (p.Leu623=)
c.2305G>A
c.8193G>A (p.Leu2731=)
c.8202G>A (p.Leu2734=)
c.8184G>A (p.Leu2728=)
c.8112G>A (p.Leu2704=)
n.10525G>A
n.9514G>A
 dbSNP
12g.49039469A>CCA384743403KMT2Dc.8195T>G (p.Leu2732Arg)
c.8204T>G (p.Leu2735Arg)
c.2214T>G
c.1868T>G (p.Leu623Arg)
c.2304T>G
c.8192T>G (p.Leu2731Arg)
c.8201T>G (p.Leu2734Arg)
c.8183T>G (p.Leu2728Arg)
c.8111T>G (p.Leu2704Arg)
n.10524T>G
n.9513T>G
 dbSNP
12g.49039469A>GCA384743404KMT2Dc.8195T>C (p.Leu2732Pro)
c.8204T>C (p.Leu2735Pro)
c.2214T>C
c.1868T>C (p.Leu623Pro)
c.2304T>C
c.8192T>C (p.Leu2731Pro)
c.8201T>C (p.Leu2734Pro)
c.8183T>C (p.Leu2728Pro)
c.8111T>C (p.Leu2704Pro)
n.10524T>C
n.9513T>C
 dbSNP gnomAD v4
12g.49039469A>TCA384743406KMT2Dc.8195T>A (p.Leu2732Gln)
c.8204T>A (p.Leu2735Gln)
c.2214T>A
c.1868T>A (p.Leu623Gln)
c.2304T>A
c.8192T>A (p.Leu2731Gln)
c.8201T>A (p.Leu2734Gln)
c.8183T>A (p.Leu2728Gln)
c.8111T>A (p.Leu2704Gln)
n.10524T>A
n.9513T>A
 dbSNP
12g.49039470G>ACA479710896KMT2Dc.8194C>T (p.Leu2732=)
c.8203C>T (p.Leu2735=)
c.2213C>T
c.1867C>T (p.Leu623=)
c.2303C>T
c.8191C>T (p.Leu2731=)
c.8200C>T (p.Leu2734=)
c.8182C>T (p.Leu2728=)
c.8110C>T (p.Leu2704=)
n.10523C>T
n.9512C>T
 dbSNP gnomAD v3 gnomAD v4
12g.49039470G>CCA384743408KMT2Dc.8194C>G (p.Leu2732Val)
c.8203C>G (p.Leu2735Val)
c.2213C>G
c.1867C>G (p.Leu623Val)
c.2303C>G
c.8191C>G (p.Leu2731Val)
c.8200C>G (p.Leu2734Val)
c.8182C>G (p.Leu2728Val)
c.8110C>G (p.Leu2704Val)
n.10523C>G
n.9512C>G
 dbSNP
12g.49039470G=CA2034959503KMT2Dc.8194C= (p.Leu2732=)
c.8203C= (p.Leu2735=)
c.2213C=
c.1867C= (p.Leu623=)
c.2303C=
c.8191C= (p.Leu2731=)
c.8200C= (p.Leu2734=)
c.8182C= (p.Leu2728=)
c.8110C= (p.Leu2704=)
n.10523C=
n.9512C=
12g.49039470G>TCA384743409KMT2Dc.8194C>A (p.Leu2732Met)
c.8203C>A (p.Leu2735Met)
c.2213C>A
c.1867C>A (p.Leu623Met)
c.2303C>A
c.8191C>A (p.Leu2731Met)
c.8200C>A (p.Leu2734Met)
c.8182C>A (p.Leu2728Met)
c.8110C>A (p.Leu2704Met)
n.10523C>A
n.9512C>A
 dbSNP
12g.49039470_49039471insTGATAAAATCCATCCCCCTTGGTTTACCCCCAGGGAACCA2795893004KMT2Dc.8193_8194insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2732ValfsTer5)
c.8202_8203insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2735ValfsTer5)
c.2212_2213insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
c.1866_1867insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu623ValfsTer5)
c.2302_2303insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
c.8190_8191insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2731ValfsTer5)
c.8199_8200insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2734ValfsTer5)
c.8181_8182insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2728ValfsTer5)
c.8109_8110insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA (p.Leu2704ValfsTer5)
n.10522_10523insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
n.9511_9512insGTTCCCTGGGGGTAAACCAAGGGGGATGGATTTTATCA
12g.49039471C>ACA384743411KMT2Dc.8193G>T (p.Gln2731His)
c.8202G>T (p.Gln2734His)
c.2212G>T
c.1866G>T (p.Gln622His)
c.2302G>T
c.8190G>T (p.Gln2730His)
c.8199G>T (p.Gln2733His)
c.8181G>T (p.Gln2727His)
c.8109G>T (p.Gln2703His)
n.10522G>T
n.9511G>T
12g.49039471C>GCA384743414KMT2Dc.8193G>C (p.Gln2731His)
c.8202G>C (p.Gln2734His)
c.2212G>C
c.1866G>C (p.Gln622His)
c.2302G>C
c.8190G>C (p.Gln2730His)
c.8199G>C (p.Gln2733His)
c.8181G>C (p.Gln2727His)
c.8109G>C (p.Gln2703His)
n.10522G>C
n.9511G>C
12g.49039471C>TCA479710900KMT2Dc.8193G>A (p.Gln2731=)
c.8202G>A (p.Gln2734=)
c.2212G>A
c.1866G>A (p.Gln622=)
c.2302G>A
c.8190G>A (p.Gln2730=)
c.8199G>A (p.Gln2733=)
c.8181G>A (p.Gln2727=)
c.8109G>A (p.Gln2703=)
n.10522G>A
n.9511G>A
12g.49039472T>ACA384743415KMT2Dc.8192A>T (p.Gln2731Leu)
c.8201A>T (p.Gln2734Leu)
c.2211A>T
c.1865A>T (p.Gln622Leu)
c.2301A>T
c.8189A>T (p.Gln2730Leu)
c.8198A>T (p.Gln2733Leu)
c.8180A>T (p.Gln2727Leu)
c.8108A>T (p.Gln2703Leu)
n.10521A>T
n.9510A>T
 dbSNP
12g.49039472T>CCA384743419KMT2Dc.8192A>G (p.Gln2731Arg)
c.8201A>G (p.Gln2734Arg)
c.2211A>G
c.1865A>G (p.Gln622Arg)
c.2301A>G
c.8189A>G (p.Gln2730Arg)
c.8198A>G (p.Gln2733Arg)
c.8180A>G (p.Gln2727Arg)
c.8108A>G (p.Gln2703Arg)
n.10521A>G
n.9510A>G
 gnomAD v4
12g.49039472T>GCA384743422KMT2Dc.8192A>C (p.Gln2731Pro)
c.8201A>C (p.Gln2734Pro)
c.2211A>C
c.1865A>C (p.Gln622Pro)
c.2301A>C
c.8189A>C (p.Gln2730Pro)
c.8198A>C (p.Gln2733Pro)
c.8180A>C (p.Gln2727Pro)
c.8108A>C (p.Gln2703Pro)
n.10521A>C
n.9510A>C
12g.49039473G>ACA384743429KMT2Dc.8191C>T (p.Gln2731Ter)
c.8200C>T (p.Gln2734Ter)
c.2210C>T
c.1864C>T (p.Gln622Ter)
c.2300C>T
c.8188C>T (p.Gln2730Ter)
c.8197C>T (p.Gln2733Ter)
c.8179C>T (p.Gln2727Ter)
c.8107C>T (p.Gln2703Ter)
n.10520C>T
n.9509C>T
 dbSNP COSMIC COSMIC
12g.49039473G>CCA384743433KMT2Dc.8191C>G (p.Gln2731Glu)
c.8200C>G (p.Gln2734Glu)
c.2210C>G
c.1864C>G (p.Gln622Glu)
c.2300C>G
c.8188C>G (p.Gln2730Glu)
c.8197C>G (p.Gln2733Glu)
c.8179C>G (p.Gln2727Glu)
c.8107C>G (p.Gln2703Glu)
n.10520C>G
n.9509C>G
 dbSNP
12g.49039473G=CA2034959504KMT2Dc.8191C= (p.Gln2731=)
c.8200C= (p.Gln2734=)
c.2210C=
c.1864C= (p.Gln622=)
c.2300C=
c.8188C= (p.Gln2730=)
c.8197C= (p.Gln2733=)
c.8179C= (p.Gln2727=)
c.8107C= (p.Gln2703=)
n.10520C=
n.9509C=
12g.49039473G>TCA384743436KMT2Dc.8191C>A (p.Gln2731Lys)
c.8200C>A (p.Gln2734Lys)
c.2210C>A
c.1864C>A (p.Gln622Lys)
c.2300C>A
c.8188C>A (p.Gln2730Lys)
c.8197C>A (p.Gln2733Lys)
c.8179C>A (p.Gln2727Lys)
c.8107C>A (p.Gln2703Lys)
n.10520C>A
n.9509C>A
 dbSNP
12g.49039474C>ACA384743441KMT2Dc.8190G>T (p.Glu2730Asp)
c.8199G>T (p.Glu2733Asp)
c.2209G>T
c.1863G>T (p.Glu621Asp)
c.2299G>T
c.8187G>T (p.Glu2729Asp)
c.8196G>T (p.Glu2732Asp)
c.8178G>T (p.Glu2726Asp)
c.8106G>T (p.Glu2702Asp)
n.10519G>T
n.9508G>T
12g.49039474C>GCA384743443KMT2Dc.8190G>C (p.Glu2730Asp)
c.8199G>C (p.Glu2733Asp)
c.2209G>C
c.1863G>C (p.Glu621Asp)
c.2299G>C
c.8187G>C (p.Glu2729Asp)
c.8196G>C (p.Glu2732Asp)
c.8178G>C (p.Glu2726Asp)
c.8106G>C (p.Glu2702Asp)
n.10519G>C
n.9508G>C
 dbSNP
12g.49039474C>TCA479710903KMT2Dc.8190G>A (p.Glu2730=)
c.8199G>A (p.Glu2733=)
c.2209G>A
c.1863G>A (p.Glu621=)
c.2299G>A
c.8187G>A (p.Glu2729=)
c.8196G>A (p.Glu2732=)
c.8178G>A (p.Glu2726=)
c.8106G>A (p.Glu2702=)
n.10519G>A
n.9508G>A
 ClinVar dbSNP gnomAD v4
12g.49039475T>ACA384743445KMT2Dc.8189A>T (p.Glu2730Val)
c.8198A>T (p.Glu2733Val)
c.2208A>T
c.1862A>T (p.Glu621Val)
c.2298A>T
c.8186A>T (p.Glu2729Val)
c.8195A>T (p.Glu2732Val)
c.8177A>T (p.Glu2726Val)
c.8105A>T (p.Glu2702Val)
n.10518A>T
n.9507A>T
 dbSNP
12g.49039475T>CCA384743448KMT2Dc.8189A>G (p.Glu2730Gly)
c.8198A>G (p.Glu2733Gly)
c.2208A>G
c.1862A>G (p.Glu621Gly)
c.2298A>G
c.8186A>G (p.Glu2729Gly)
c.8195A>G (p.Glu2732Gly)
c.8177A>G (p.Glu2726Gly)
c.8105A>G (p.Glu2702Gly)
n.10518A>G
n.9507A>G
 dbSNP
12g.49039475T>GCA384743451KMT2Dc.8189A>C (p.Glu2730Ala)
c.8198A>C (p.Glu2733Ala)
c.2208A>C
c.1862A>C (p.Glu621Ala)
c.2298A>C
c.8186A>C (p.Glu2729Ala)
c.8195A>C (p.Glu2732Ala)
c.8177A>C (p.Glu2726Ala)
c.8105A>C (p.Glu2702Ala)
n.10518A>C
n.9507A>C
12g.49039476C>ACA384743457KMT2Dc.8188G>T (p.Glu2730Ter)
c.8197G>T (p.Glu2733Ter)
c.2207G>T
c.1861G>T (p.Glu621Ter)
c.2297G>T
c.8185G>T (p.Glu2729Ter)
c.8194G>T (p.Glu2732Ter)
c.8176G>T (p.Glu2726Ter)
c.8104G>T (p.Glu2702Ter)
n.10517G>T
n.9506G>T
12g.49039476C>GCA384743476KMT2Dc.8188G>C (p.Glu2730Gln)
c.8197G>C (p.Glu2733Gln)
c.2207G>C
c.1861G>C (p.Glu621Gln)
c.2297G>C
c.8185G>C (p.Glu2729Gln)
c.8194G>C (p.Glu2732Gln)
c.8176G>C (p.Glu2726Gln)
c.8104G>C (p.Glu2702Gln)
n.10517G>C
n.9506G>C
12g.49039476C>TCA384743478KMT2Dc.8188G>A (p.Glu2730Lys)
c.8197G>A (p.Glu2733Lys)
c.2207G>A
c.1861G>A (p.Glu621Lys)
c.2297G>A
c.8185G>A (p.Glu2729Lys)
c.8194G>A (p.Glu2732Lys)
c.8176G>A (p.Glu2726Lys)
c.8104G>A (p.Glu2702Lys)
n.10517G>A
n.9506G>A
12g.49039477A>CCA384743482KMT2Dc.8187T>G (p.Phe2729Leu)
c.8196T>G (p.Phe2732Leu)
c.2206T>G
c.1860T>G (p.Phe620Leu)
c.2296T>G
c.8184T>G (p.Phe2728Leu)
c.8193T>G (p.Phe2731Leu)
c.8175T>G (p.Phe2725Leu)
c.8103T>G (p.Phe2701Leu)
n.10516T>G
n.9505T>G
12g.49039477A>GCA479710909KMT2Dc.8187T>C (p.Phe2729=)
c.8196T>C (p.Phe2732=)
c.2206T>C
c.1860T>C (p.Phe620=)
c.2296T>C
c.8184T>C (p.Phe2728=)
c.8193T>C (p.Phe2731=)
c.8175T>C (p.Phe2725=)
c.8103T>C (p.Phe2701=)
n.10516T>C
n.9505T>C
12g.49039477A>TCA384743485KMT2Dc.8187T>A (p.Phe2729Leu)
c.8196T>A (p.Phe2732Leu)
c.2206T>A
c.1860T>A (p.Phe620Leu)
c.2296T>A
c.8184T>A (p.Phe2728Leu)
c.8193T>A (p.Phe2731Leu)
c.8175T>A (p.Phe2725Leu)
c.8103T>A (p.Phe2701Leu)
n.10516T>A
n.9505T>A
12g.49039478A>CCA384743489KMT2Dc.8186T>G (p.Phe2729Cys)
c.8195T>G (p.Phe2732Cys)
c.2205T>G
c.1859T>G (p.Phe620Cys)
c.2295T>G
c.8183T>G (p.Phe2728Cys)
c.8192T>G (p.Phe2731Cys)
c.8174T>G (p.Phe2725Cys)
c.8102T>G (p.Phe2701Cys)
n.10515T>G
n.9504T>G
12g.49039478A>GCA384743492KMT2Dc.8186T>C (p.Phe2729Ser)
c.8195T>C (p.Phe2732Ser)
c.2205T>C
c.1859T>C (p.Phe620Ser)
c.2295T>C
c.8183T>C (p.Phe2728Ser)
c.8192T>C (p.Phe2731Ser)
c.8174T>C (p.Phe2725Ser)
c.8102T>C (p.Phe2701Ser)
n.10515T>C
n.9504T>C
12g.49039478A>TCA384743494KMT2Dc.8186T>A (p.Phe2729Tyr)
c.8195T>A (p.Phe2732Tyr)
c.2205T>A
c.1859T>A (p.Phe620Tyr)
c.2295T>A
c.8183T>A (p.Phe2728Tyr)
c.8192T>A (p.Phe2731Tyr)
c.8174T>A (p.Phe2725Tyr)
c.8102T>A (p.Phe2701Tyr)
n.10515T>A
n.9504T>A
 dbSNP
12g.49039479A>CCA384743499KMT2Dc.8185T>G (p.Phe2729Val)
c.8194T>G (p.Phe2732Val)
c.2204T>G
c.1858T>G (p.Phe620Val)
c.2294T>G
c.8182T>G (p.Phe2728Val)
c.8191T>G (p.Phe2731Val)
c.8173T>G (p.Phe2725Val)
c.8101T>G (p.Phe2701Val)
n.10514T>G
n.9503T>G
12g.49039479A>GCA384743501KMT2Dc.8185T>C (p.Phe2729Leu)
c.8194T>C (p.Phe2732Leu)
c.2204T>C
c.1858T>C (p.Phe620Leu)
c.2294T>C
c.8182T>C (p.Phe2728Leu)
c.8191T>C (p.Phe2731Leu)
c.8173T>C (p.Phe2725Leu)
c.8101T>C (p.Phe2701Leu)
n.10514T>C
n.9503T>C
12g.49039479A>TCA384743502KMT2Dc.8185T>A (p.Phe2729Ile)
c.8194T>A (p.Phe2732Ile)
c.2204T>A
c.1858T>A (p.Phe620Ile)
c.2294T>A
c.8182T>A (p.Phe2728Ile)
c.8191T>A (p.Phe2731Ile)
c.8173T>A (p.Phe2725Ile)
c.8101T>A (p.Phe2701Ile)
n.10514T>A
n.9503T>A
12g.49039480G>ACA479710916KMT2Dc.8184C>T (p.Ala2728=)
c.8193C>T (p.Ala2731=)
c.2203C>T
c.1857C>T (p.Ala619=)
c.2293C>T
c.8181C>T (p.Ala2727=)
c.8190C>T (p.Ala2730=)
c.8172C>T (p.Ala2724=)
c.8100C>T (p.Ala2700=)
n.10513C>T
n.9502C>T
12g.49039480G>CCA479710917KMT2Dc.8184C>G (p.Ala2728=)
c.8193C>G (p.Ala2731=)
c.2203C>G
c.1857C>G (p.Ala619=)
c.2293C>G
c.8181C>G (p.Ala2727=)
c.8190C>G (p.Ala2730=)
c.8172C>G (p.Ala2724=)
c.8100C>G (p.Ala2700=)
n.10513C>G
n.9502C>G
12g.49039480G>TCA479710918KMT2Dc.8184C>A (p.Ala2728=)
c.8193C>A (p.Ala2731=)
c.2203C>A
c.1857C>A (p.Ala619=)
c.2293C>A
c.8181C>A (p.Ala2727=)
c.8190C>A (p.Ala2730=)
c.8172C>A (p.Ala2724=)
c.8100C>A (p.Ala2700=)
n.10513C>A
n.9502C>A
12g.49039483_49039495delCA2695216412KMT2Dc.8172_8184del (p.Ser2725LeufsTer4)
c.8181_8193del (p.Ser2728LeufsTer4)
c.2191_2203del
c.1845_1857del (p.Ser616LeufsTer4)
c.2281_2293del
c.8169_8181del (p.Ser2724LeufsTer4)
c.8178_8190del (p.Ser2727LeufsTer4)
c.8160_8172del (p.Ser2721LeufsTer4)
c.8088_8100del (p.Ser2697LeufsTer4)
n.10501_10513del
n.9490_9502del
12g.49039481G>ACA384743504KMT2Dc.8183C>T (p.Ala2728Val)
c.8192C>T (p.Ala2731Val)
c.2202C>T
c.1856C>T (p.Ala619Val)
c.2292C>T
c.8180C>T (p.Ala2727Val)
c.8189C>T (p.Ala2730Val)
c.8171C>T (p.Ala2724Val)
c.8099C>T (p.Ala2700Val)
n.10512C>T
n.9501C>T
 ClinVar dbSNP gnomAD v4
12g.49039481G>CCA384743505KMT2Dc.8183C>G (p.Ala2728Gly)
c.8192C>G (p.Ala2731Gly)
c.2202C>G
c.1856C>G (p.Ala619Gly)
c.2292C>G
c.8180C>G (p.Ala2727Gly)
c.8189C>G (p.Ala2730Gly)
c.8171C>G (p.Ala2724Gly)
c.8099C>G (p.Ala2700Gly)
n.10512C>G
n.9501C>G
 dbSNP
12g.49039481G>TCA384743507KMT2Dc.8183C>A (p.Ala2728Asp)
c.8192C>A (p.Ala2731Asp)
c.2202C>A
c.1856C>A (p.Ala619Asp)
c.2292C>A
c.8180C>A (p.Ala2727Asp)
c.8189C>A (p.Ala2730Asp)
c.8171C>A (p.Ala2724Asp)
c.8099C>A (p.Ala2700Asp)
n.10512C>A
n.9501C>A
 dbSNP
12g.49039482C>ACA384743510KMT2Dc.8182G>T (p.Ala2728Ser)
c.8191G>T (p.Ala2731Ser)
c.2201G>T
c.1855G>T (p.Ala619Ser)
c.2291G>T
c.8179G>T (p.Ala2727Ser)
c.8188G>T (p.Ala2730Ser)
c.8170G>T (p.Ala2724Ser)
c.8098G>T (p.Ala2700Ser)
n.10511G>T
n.9500G>T
 dbSNP gnomAD v4
12g.49039482C>GCA384743512KMT2Dc.8182G>C (p.Ala2728Pro)
c.8191G>C (p.Ala2731Pro)
c.2201G>C
c.1855G>C (p.Ala619Pro)
c.2291G>C
c.8179G>C (p.Ala2727Pro)
c.8188G>C (p.Ala2730Pro)
c.8170G>C (p.Ala2724Pro)
c.8098G>C (p.Ala2700Pro)
n.10511G>C
n.9500G>C
12g.49039482C>TCA384743518KMT2Dc.8182G>A (p.Ala2728Thr)
c.8191G>A (p.Ala2731Thr)
c.2201G>A
c.1855G>A (p.Ala619Thr)
c.2291G>A
c.8179G>A (p.Ala2727Thr)
c.8188G>A (p.Ala2730Thr)
c.8170G>A (p.Ala2724Thr)
c.8098G>A (p.Ala2700Thr)
n.10511G>A
n.9500G>A
 dbSNP
12g.49039483A>CCA479710919KMT2Dc.8181T>G (p.Pro2727=)
c.8190T>G (p.Pro2730=)
c.2200T>G
c.1854T>G (p.Pro618=)
c.2290T>G
c.8178T>G (p.Pro2726=)
c.8187T>G (p.Pro2729=)
c.8169T>G (p.Pro2723=)
c.8097T>G (p.Pro2699=)
n.10510T>G
n.9499T>G
12g.49039483A>GCA479710920KMT2Dc.8181T>C (p.Pro2727=)
c.8190T>C (p.Pro2730=)
c.2200T>C
c.1854T>C (p.Pro618=)
c.2290T>C
c.8178T>C (p.Pro2726=)
c.8187T>C (p.Pro2729=)
c.8169T>C (p.Pro2723=)
c.8097T>C (p.Pro2699=)
n.10510T>C
n.9499T>C
12g.49039483A>TCA479710921KMT2Dc.8181T>A (p.Pro2727=)
c.8190T>A (p.Pro2730=)
c.2200T>A
c.1854T>A (p.Pro618=)
c.2290T>A
c.8178T>A (p.Pro2726=)
c.8187T>A (p.Pro2729=)
c.8169T>A (p.Pro2723=)
c.8097T>A (p.Pro2699=)
n.10510T>A
n.9499T>A
12g.49039484G>ACA384743524KMT2Dc.8180C>T (p.Pro2727Leu)
c.8189C>T (p.Pro2730Leu)
c.2199C>T
c.1853C>T (p.Pro618Leu)
c.2289C>T
c.8177C>T (p.Pro2726Leu)
c.8186C>T (p.Pro2729Leu)
c.8168C>T (p.Pro2723Leu)
c.8096C>T (p.Pro2699Leu)
n.10509C>T
n.9498C>T
12g.49039484G>CCA384743525KMT2Dc.8180C>G (p.Pro2727Arg)
c.8189C>G (p.Pro2730Arg)
c.2199C>G
c.1853C>G (p.Pro618Arg)
c.2289C>G
c.8177C>G (p.Pro2726Arg)
c.8186C>G (p.Pro2729Arg)
c.8168C>G (p.Pro2723Arg)
c.8096C>G (p.Pro2699Arg)
n.10509C>G
n.9498C>G
12g.49039484G>TCA384743521KMT2Dc.8180C>A (p.Pro2727His)
c.8189C>A (p.Pro2730His)
c.2199C>A
c.1853C>A (p.Pro618His)
c.2289C>A
c.8177C>A (p.Pro2726His)
c.8186C>A (p.Pro2729His)
c.8168C>A (p.Pro2723His)
c.8096C>A (p.Pro2699His)
n.10509C>A
n.9498C>A
 dbSNP
12g.49039485G>ACA384743530KMT2Dc.8179C>T (p.Pro2727Ser)
c.8188C>T (p.Pro2730Ser)
c.2198C>T
c.1852C>T (p.Pro618Ser)
c.2288C>T
c.8176C>T (p.Pro2726Ser)
c.8185C>T (p.Pro2729Ser)
c.8167C>T (p.Pro2723Ser)
c.8095C>T (p.Pro2699Ser)
n.10508C>T
n.9497C>T
 dbSNP
12g.49039485G>CCA384743526KMT2Dc.8179C>G (p.Pro2727Ala)
c.8188C>G (p.Pro2730Ala)
c.2198C>G
c.1852C>G (p.Pro618Ala)
c.2288C>G
c.8176C>G (p.Pro2726Ala)
c.8185C>G (p.Pro2729Ala)
c.8167C>G (p.Pro2723Ala)
c.8095C>G (p.Pro2699Ala)
n.10508C>G
n.9497C>G
 dbSNP
12g.49039485G>TCA384743528KMT2Dc.8179C>A (p.Pro2727Thr)
c.8188C>A (p.Pro2730Thr)
c.2198C>A
c.1852C>A (p.Pro618Thr)
c.2288C>A
c.8176C>A (p.Pro2726Thr)
c.8185C>A (p.Pro2729Thr)
c.8167C>A (p.Pro2723Thr)
c.8095C>A (p.Pro2699Thr)
n.10508C>A
n.9497C>A
12g.49039486G>ACA479710923KMT2Dc.8178C>T (p.Ser2726=)
c.8187C>T (p.Ser2729=)
c.2197C>T
c.1851C>T (p.Ser617=)
c.2287C>T
c.8175C>T (p.Ser2725=)
c.8184C>T (p.Ser2728=)
c.8166C>T (p.Ser2722=)
c.8094C>T (p.Ser2698=)
n.10507C>T
n.9496C>T
12g.49039486G>CCA384743534KMT2Dc.8178C>G (p.Ser2726Arg)
c.8187C>G (p.Ser2729Arg)
c.2197C>G
c.1851C>G (p.Ser617Arg)
c.2287C>G
c.8175C>G (p.Ser2725Arg)
c.8184C>G (p.Ser2728Arg)
c.8166C>G (p.Ser2722Arg)
c.8094C>G (p.Ser2698Arg)
n.10507C>G
n.9496C>G
12g.49039486G>TCA384743536KMT2Dc.8178C>A (p.Ser2726Arg)
c.8187C>A (p.Ser2729Arg)
c.2197C>A
c.1851C>A (p.Ser617Arg)
c.2287C>A
c.8175C>A (p.Ser2725Arg)
c.8184C>A (p.Ser2728Arg)
c.8166C>A (p.Ser2722Arg)
c.8094C>A (p.Ser2698Arg)
n.10507C>A
n.9496C>A
12g.49039487C>ACA384743539KMT2Dc.8177G>T (p.Ser2726Ile)
c.8186G>T (p.Ser2729Ile)
c.2196G>T
c.1850G>T (p.Ser617Ile)
c.2286G>T
c.8174G>T (p.Ser2725Ile)
c.8183G>T (p.Ser2728Ile)
c.8165G>T (p.Ser2722Ile)
c.8093G>T (p.Ser2698Ile)
n.10506G>T
n.9495G>T
 dbSNP
12g.49039487C>GCA384743546KMT2Dc.8177G>C (p.Ser2726Thr)
c.8186G>C (p.Ser2729Thr)
c.2196G>C
c.1850G>C (p.Ser617Thr)
c.2286G>C
c.8174G>C (p.Ser2725Thr)
c.8183G>C (p.Ser2728Thr)
c.8165G>C (p.Ser2722Thr)
c.8093G>C (p.Ser2698Thr)
n.10506G>C
n.9495G>C
 dbSNP
12g.49039487C>TCA384743548KMT2Dc.8177G>A (p.Ser2726Asn)
c.8186G>A (p.Ser2729Asn)
c.2196G>A
c.1850G>A (p.Ser617Asn)
c.2286G>A
c.8174G>A (p.Ser2725Asn)
c.8183G>A (p.Ser2728Asn)
c.8165G>A (p.Ser2722Asn)
c.8093G>A (p.Ser2698Asn)
n.10506G>A
n.9495G>A
 dbSNP
12g.49039488T>ACA384743557KMT2Dc.8176A>T (p.Ser2726Cys)
c.8185A>T (p.Ser2729Cys)
c.2195A>T
c.1849A>T (p.Ser617Cys)
c.2285A>T
c.8173A>T (p.Ser2725Cys)
c.8182A>T (p.Ser2728Cys)
c.8164A>T (p.Ser2722Cys)
c.8092A>T (p.Ser2698Cys)
n.10505A>T
n.9494A>T
 dbSNP
12g.49039488T>CCA236646342KMT2Dc.8176A>G (p.Ser2726Gly)
c.8185A>G (p.Ser2729Gly)
c.2195A>G
c.1849A>G (p.Ser617Gly)
c.2285A>G
c.8173A>G (p.Ser2725Gly)
c.8182A>G (p.Ser2728Gly)
c.8164A>G (p.Ser2722Gly)
c.8092A>G (p.Ser2698Gly)
n.10505A>G
n.9494A>G
 dbSNP
12g.49039488T>GCA384743561KMT2Dc.8176A>C (p.Ser2726Arg)
c.8185A>C (p.Ser2729Arg)
c.2195A>C
c.1849A>C (p.Ser617Arg)
c.2285A>C
c.8173A>C (p.Ser2725Arg)
c.8182A>C (p.Ser2728Arg)
c.8164A>C (p.Ser2722Arg)
c.8092A>C (p.Ser2698Arg)
n.10505A>C
n.9494A>C
12g.49039488T=CA2034959506KMT2Dc.8176A= (p.Ser2726=)
c.8185A= (p.Ser2729=)
c.2195A=
c.1849A= (p.Ser617=)
c.2285A=
c.8173A= (p.Ser2725=)
c.8182A= (p.Ser2728=)
c.8164A= (p.Ser2722=)
c.8092A= (p.Ser2698=)
n.10505A=
n.9494A=
12g.49039488_49039493delinsTGCTGGCA2034959507KMT2Dc.8171_8176delinsCCAGCA (p.Pro2724=)
c.8180_8185delinsCCAGCA (p.Pro2727=)
c.2190_2195delinsCCAGCA
c.1844_1849delinsCCAGCA (p.Pro615=)
c.2280_2285delinsCCAGCA
c.8168_8173delinsCCAGCA (p.Pro2723=)
c.8177_8182delinsCCAGCA (p.Pro2726=)
c.8159_8164delinsCCAGCA (p.Pro2720=)
c.8087_8092delinsCCAGCA (p.Pro2696=)
n.10500_10505delinsCCAGCA
n.9489_9494delinsCCAGCA
12g.49039489G>ACA479710925KMT2Dc.8175C>T (p.Ser2725=)
c.8184C>T (p.Ser2728=)
c.2194C>T
c.1848C>T (p.Ser616=)
c.2284C>T
c.8172C>T (p.Ser2724=)
c.8181C>T (p.Ser2727=)
c.8163C>T (p.Ser2721=)
c.8091C>T (p.Ser2697=)
n.10504C>T
n.9493C>T
 dbSNP
12g.49039489G>CCA384743565KMT2Dc.8175C>G (p.Ser2725Arg)
c.8184C>G (p.Ser2728Arg)
c.2194C>G
c.1848C>G (p.Ser616Arg)
c.2284C>G
c.8172C>G (p.Ser2724Arg)
c.8181C>G (p.Ser2727Arg)
c.8163C>G (p.Ser2721Arg)
c.8091C>G (p.Ser2697Arg)
n.10504C>G
n.9493C>G
12g.49039489G>TCA384743567KMT2Dc.8175C>A (p.Ser2725Arg)
c.8184C>A (p.Ser2728Arg)
c.2194C>A
c.1848C>A (p.Ser616Arg)
c.2284C>A
c.8172C>A (p.Ser2724Arg)
c.8181C>A (p.Ser2727Arg)
c.8163C>A (p.Ser2721Arg)
c.8091C>A (p.Ser2697Arg)
n.10504C>A
n.9493C>A
 dbSNP
12g.49039492_49039496delCA271661KMT2Dc.8171_8175del (p.Pro2724GlnfsTer5)
c.8180_8184del (p.Pro2727GlnfsTer5)
c.2190_2194del
c.1844_1848del (p.Pro615GlnfsTer5)
c.2280_2284del
c.8168_8172del (p.Pro2723GlnfsTer5)
c.8177_8181del (p.Pro2726GlnfsTer5)
c.8159_8163del (p.Pro2720GlnfsTer5)
c.8087_8091del (p.Pro2696GlnfsTer5)
n.10500_10504del
n.9489_9493del
 ClinVar dbSNP
12g.49039490C>ACA384743578KMT2Dc.8174G>T (p.Ser2725Ile)
c.8183G>T (p.Ser2728Ile)
c.2193G>T
c.1847G>T (p.Ser616Ile)
c.2283G>T
c.8171G>T (p.Ser2724Ile)
c.8180G>T (p.Ser2727Ile)
c.8162G>T (p.Ser2721Ile)
c.8090G>T (p.Ser2697Ile)
n.10503G>T
n.9492G>T
12g.49039490C>GCA384743577KMT2Dc.8174G>C (p.Ser2725Thr)
c.8183G>C (p.Ser2728Thr)
c.2193G>C
c.1847G>C (p.Ser616Thr)
c.2283G>C
c.8171G>C (p.Ser2724Thr)
c.8180G>C (p.Ser2727Thr)
c.8162G>C (p.Ser2721Thr)
c.8090G>C (p.Ser2697Thr)
n.10503G>C
n.9492G>C
 dbSNP
12g.49039490C>TCA384743576KMT2Dc.8174G>A (p.Ser2725Asn)
c.8183G>A (p.Ser2728Asn)
c.2193G>A
c.1847G>A (p.Ser616Asn)
c.2283G>A
c.8171G>A (p.Ser2724Asn)
c.8180G>A (p.Ser2727Asn)
c.8162G>A (p.Ser2721Asn)
c.8090G>A (p.Ser2697Asn)
n.10503G>A
n.9492G>A
 dbSNP
12g.49039491T>ACA384743579KMT2Dc.8173A>T (p.Ser2725Cys)
c.8182A>T (p.Ser2728Cys)
c.2192A>T
c.1846A>T (p.Ser616Cys)
c.2282A>T
c.8170A>T (p.Ser2724Cys)
c.8179A>T (p.Ser2727Cys)
c.8161A>T (p.Ser2721Cys)
c.8089A>T (p.Ser2697Cys)
n.10502A>T
n.9491A>T
12g.49039491T>CCA384743580KMT2Dc.8173A>G (p.Ser2725Gly)
c.8182A>G (p.Ser2728Gly)
c.2192A>G
c.1846A>G (p.Ser616Gly)
c.2282A>G
c.8170A>G (p.Ser2724Gly)
c.8179A>G (p.Ser2727Gly)
c.8161A>G (p.Ser2721Gly)
c.8089A>G (p.Ser2697Gly)
n.10502A>G
n.9491A>G
12g.49039491T>GCA384743581KMT2Dc.8173A>C (p.Ser2725Arg)
c.8182A>C (p.Ser2728Arg)
c.2192A>C
c.1846A>C (p.Ser616Arg)
c.2282A>C
c.8170A>C (p.Ser2724Arg)
c.8179A>C (p.Ser2727Arg)
c.8161A>C (p.Ser2721Arg)
c.8089A>C (p.Ser2697Arg)
n.10502A>C
n.9491A>C
12g.49039491_49039492delCA2695216413KMT2Dc.8172_8173del (p.Ser2725GlnfsTer5)
c.8181_8182del (p.Ser2728GlnfsTer5)
c.2191_2192del
c.1845_1846del (p.Ser616GlnfsTer5)
c.2281_2282del
c.8169_8170del (p.Ser2724GlnfsTer5)
c.8178_8179del (p.Ser2727GlnfsTer5)
c.8160_8161del (p.Ser2721GlnfsTer5)
c.8088_8089del (p.Ser2697GlnfsTer5)
n.10501_10502del
n.9490_9491del
12g.49039492G>ACA479710929KMT2Dc.8172C>T (p.Pro2724=)
c.8181C>T (p.Pro2727=)
c.2191C>T
c.1845C>T (p.Pro615=)
c.2281C>T
c.8169C>T (p.Pro2723=)
c.8178C>T (p.Pro2726=)
c.8160C>T (p.Pro2720=)
c.8088C>T (p.Pro2696=)
n.10501C>T
n.9490C>T
 dbSNP
12g.49039492G>CCA479710932KMT2Dc.8172C>G (p.Pro2724=)
c.8181C>G (p.Pro2727=)
c.2191C>G
c.1845C>G (p.Pro615=)
c.2281C>G
c.8169C>G (p.Pro2723=)
c.8178C>G (p.Pro2726=)
c.8160C>G (p.Pro2720=)
c.8088C>G (p.Pro2696=)
n.10501C>G
n.9490C>G
 dbSNP
12g.49039492G=CA2034959512KMT2Dc.8172C= (p.Pro2724=)
c.8181C= (p.Pro2727=)
c.2191C=
c.1845C= (p.Pro615=)
c.2281C=
c.8169C= (p.Pro2723=)
c.8178C= (p.Pro2726=)
c.8160C= (p.Pro2720=)
c.8088C= (p.Pro2696=)
n.10501C=
n.9490C=
12g.49039492G>TCA479710934KMT2Dc.8172C>A (p.Pro2724=)
c.8181C>A (p.Pro2727=)
c.2191C>A
c.1845C>A (p.Pro615=)
c.2281C>A
c.8169C>A (p.Pro2723=)
c.8178C>A (p.Pro2726=)
c.8160C>A (p.Pro2720=)
c.8088C>A (p.Pro2696=)
n.10501C>A
n.9490C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039493G>ACA384743582KMT2Dc.8171C>T (p.Pro2724Leu)
c.8180C>T (p.Pro2727Leu)
c.2190C>T
c.1844C>T (p.Pro615Leu)
c.2280C>T
c.8168C>T (p.Pro2723Leu)
c.8177C>T (p.Pro2726Leu)
c.8159C>T (p.Pro2720Leu)
c.8087C>T (p.Pro2696Leu)
n.10500C>T
n.9489C>T
12g.49039493G>CCA384743585KMT2Dc.8171C>G (p.Pro2724Arg)
c.8180C>G (p.Pro2727Arg)
c.2190C>G
c.1844C>G (p.Pro615Arg)
c.2280C>G
c.8168C>G (p.Pro2723Arg)
c.8177C>G (p.Pro2726Arg)
c.8159C>G (p.Pro2720Arg)
c.8087C>G (p.Pro2696Arg)
n.10500C>G
n.9489C>G
12g.49039493G>TCA384743588KMT2Dc.8171C>A (p.Pro2724His)
c.8180C>A (p.Pro2727His)
c.2190C>A
c.1844C>A (p.Pro615His)
c.2280C>A
c.8168C>A (p.Pro2723His)
c.8177C>A (p.Pro2726His)
c.8159C>A (p.Pro2720His)
c.8087C>A (p.Pro2696His)
n.10500C>A
n.9489C>A
12g.49039494G>ACA384743597KMT2Dc.8170C>T (p.Pro2724Ser)
c.8179C>T (p.Pro2727Ser)
c.2189C>T
c.1843C>T (p.Pro615Ser)
c.2279C>T
c.8167C>T (p.Pro2723Ser)
c.8176C>T (p.Pro2726Ser)
c.8158C>T (p.Pro2720Ser)
c.8086C>T (p.Pro2696Ser)
n.10499C>T
n.9488C>T
 dbSNP
12g.49039494G>CCA384743599KMT2Dc.8170C>G (p.Pro2724Ala)
c.8179C>G (p.Pro2727Ala)
c.2189C>G
c.1843C>G (p.Pro615Ala)
c.2279C>G
c.8167C>G (p.Pro2723Ala)
c.8176C>G (p.Pro2726Ala)
c.8158C>G (p.Pro2720Ala)
c.8086C>G (p.Pro2696Ala)
n.10499C>G
n.9488C>G
12g.49039494G>TCA384743602KMT2Dc.8170C>A (p.Pro2724Thr)
c.8179C>A (p.Pro2727Thr)
c.2189C>A
c.1843C>A (p.Pro615Thr)
c.2279C>A
c.8167C>A (p.Pro2723Thr)
c.8176C>A (p.Pro2726Thr)
c.8158C>A (p.Pro2720Thr)
c.8086C>A (p.Pro2696Thr)
n.10499C>A
n.9488C>A
12g.49039495C>ACA384743608KMT2Dc.8169G>T (p.Glu2723Asp)
c.8178G>T (p.Glu2726Asp)
c.2188G>T
c.1842G>T (p.Glu614Asp)
c.2278G>T
c.8166G>T (p.Glu2722Asp)
c.8175G>T (p.Glu2725Asp)
c.8157G>T (p.Glu2719Asp)
c.8085G>T (p.Glu2695Asp)
n.10498G>T
n.9487G>T
12g.49039495C>GCA384743611KMT2Dc.8169G>C (p.Glu2723Asp)
c.8178G>C (p.Glu2726Asp)
c.2188G>C
c.1842G>C (p.Glu614Asp)
c.2278G>C
c.8166G>C (p.Glu2722Asp)
c.8175G>C (p.Glu2725Asp)
c.8157G>C (p.Glu2719Asp)
c.8085G>C (p.Glu2695Asp)
n.10498G>C
n.9487G>C
12g.49039495C>TCA479710935KMT2Dc.8169G>A (p.Glu2723=)
c.8178G>A (p.Glu2726=)
c.2188G>A
c.1842G>A (p.Glu614=)
c.2278G>A
c.8166G>A (p.Glu2722=)
c.8175G>A (p.Glu2725=)
c.8157G>A (p.Glu2719=)
c.8085G>A (p.Glu2695=)
n.10498G>A
n.9487G>A
12g.49039496T>ACA384743612KMT2Dc.8168A>T (p.Glu2723Val)
c.8177A>T (p.Glu2726Val)
c.2187A>T
c.1841A>T (p.Glu614Val)
c.2277A>T
c.8165A>T (p.Glu2722Val)
c.8174A>T (p.Glu2725Val)
c.8156A>T (p.Glu2719Val)
c.8084A>T (p.Glu2695Val)
n.10497A>T
n.9486A>T
 dbSNP
12g.49039496T>CCA384743613KMT2Dc.8168A>G (p.Glu2723Gly)
c.8177A>G (p.Glu2726Gly)
c.2187A>G
c.1841A>G (p.Glu614Gly)
c.2277A>G
c.8165A>G (p.Glu2722Gly)
c.8174A>G (p.Glu2725Gly)
c.8156A>G (p.Glu2719Gly)
c.8084A>G (p.Glu2695Gly)
n.10497A>G
n.9486A>G
 dbSNP
12g.49039496T>GCA384743614KMT2Dc.8168A>C (p.Glu2723Ala)
c.8177A>C (p.Glu2726Ala)
c.2187A>C
c.1841A>C (p.Glu614Ala)
c.2277A>C
c.8165A>C (p.Glu2722Ala)
c.8174A>C (p.Glu2725Ala)
c.8156A>C (p.Glu2719Ala)
c.8084A>C (p.Glu2695Ala)
n.10497A>C
n.9486A>C
 dbSNP
12g.49039497C>ACA384743617KMT2Dc.8167G>T (p.Glu2723Ter)
c.8176G>T (p.Glu2726Ter)
c.2186G>T
c.1840G>T (p.Glu614Ter)
c.2276G>T
c.8164G>T (p.Glu2722Ter)
c.8173G>T (p.Glu2725Ter)
c.8155G>T (p.Glu2719Ter)
c.8083G>T (p.Glu2695Ter)
n.10496G>T
n.9485G>T
 dbSNP
12g.49039497C=CA2034959517KMT2Dc.8167G= (p.Glu2723=)
c.8176G= (p.Glu2726=)
c.2186G=
c.1840G= (p.Glu614=)
c.2276G=
c.8164G= (p.Glu2722=)
c.8173G= (p.Glu2725=)
c.8155G= (p.Glu2719=)
c.8083G= (p.Glu2695=)
n.10496G=
n.9485G=
12g.49039497C>GCA384743619KMT2Dc.8167G>C (p.Glu2723Gln)
c.8176G>C (p.Glu2726Gln)
c.2186G>C
c.1840G>C (p.Glu614Gln)
c.2276G>C
c.8164G>C (p.Glu2722Gln)
c.8173G>C (p.Glu2725Gln)
c.8155G>C (p.Glu2719Gln)
c.8083G>C (p.Glu2695Gln)
n.10496G>C
n.9485G>C
 dbSNP
12g.49039497C>TCA384743615KMT2Dc.8167G>A (p.Glu2723Lys)
c.8176G>A (p.Glu2726Lys)
c.2186G>A
c.1840G>A (p.Glu614Lys)
c.2276G>A
c.8164G>A (p.Glu2722Lys)
c.8173G>A (p.Glu2725Lys)
c.8155G>A (p.Glu2719Lys)
c.8083G>A (p.Glu2695Lys)
n.10496G>A
n.9485G>A
 dbSNP
12g.49039498A>CCA479710938KMT2Dc.8166T>G (p.Ala2722=)
c.8175T>G (p.Ala2725=)
c.2185T>G
c.1839T>G (p.Ala613=)
c.2275T>G
c.8163T>G (p.Ala2721=)
c.8172T>G (p.Ala2724=)
c.8154T>G (p.Ala2718=)
c.8082T>G (p.Ala2694=)
n.10495T>G
n.9484T>G
12g.49039498A>GCA479710939KMT2Dc.8166T>C (p.Ala2722=)
c.8175T>C (p.Ala2725=)
c.2185T>C
c.1839T>C (p.Ala613=)
c.2275T>C
c.8163T>C (p.Ala2721=)
c.8172T>C (p.Ala2724=)
c.8154T>C (p.Ala2718=)
c.8082T>C (p.Ala2694=)
n.10495T>C
n.9484T>C
 dbSNP gnomAD v4
12g.49039498A>TCA479710940KMT2Dc.8166T>A (p.Ala2722=)
c.8175T>A (p.Ala2725=)
c.2185T>A
c.1839T>A (p.Ala613=)
c.2275T>A
c.8163T>A (p.Ala2721=)
c.8172T>A (p.Ala2724=)
c.8154T>A (p.Ala2718=)
c.8082T>A (p.Ala2694=)
n.10495T>A
n.9484T>A
 dbSNP
12g.49039499G>ACA384743636KMT2Dc.8165C>T (p.Ala2722Val)
c.8174C>T (p.Ala2725Val)
c.2184C>T
c.1838C>T (p.Ala613Val)
c.2274C>T
c.8162C>T (p.Ala2721Val)
c.8171C>T (p.Ala2724Val)
c.8153C>T (p.Ala2718Val)
c.8081C>T (p.Ala2694Val)
n.10494C>T
n.9483C>T
12g.49039499G>CCA384743638KMT2Dc.8165C>G (p.Ala2722Gly)
c.8174C>G (p.Ala2725Gly)
c.2184C>G
c.1838C>G (p.Ala613Gly)
c.2274C>G
c.8162C>G (p.Ala2721Gly)
c.8171C>G (p.Ala2724Gly)
c.8153C>G (p.Ala2718Gly)
c.8081C>G (p.Ala2694Gly)
n.10494C>G
n.9483C>G
 dbSNP
12g.49039499G=CA2034959520KMT2Dc.8165C= (p.Ala2722=)
c.8174C= (p.Ala2725=)
c.2184C=
c.1838C= (p.Ala613=)
c.2274C=
c.8162C= (p.Ala2721=)
c.8171C= (p.Ala2724=)
c.8153C= (p.Ala2718=)
c.8081C= (p.Ala2694=)
n.10494C=
n.9483C=
12g.49039499G>TCA384743652KMT2Dc.8165C>A (p.Ala2722Asp)
c.8174C>A (p.Ala2725Asp)
c.2184C>A
c.1838C>A (p.Ala613Asp)
c.2274C>A
c.8162C>A (p.Ala2721Asp)
c.8171C>A (p.Ala2724Asp)
c.8153C>A (p.Ala2718Asp)
c.8081C>A (p.Ala2694Asp)
n.10494C>A
n.9483C>A
12g.49039500C>ACA384743656KMT2Dc.8164G>T (p.Ala2722Ser)
c.8173G>T (p.Ala2725Ser)
c.2183G>T
c.1837G>T (p.Ala613Ser)
c.2273G>T
c.8161G>T (p.Ala2721Ser)
c.8170G>T (p.Ala2724Ser)
c.8152G>T (p.Ala2718Ser)
c.8080G>T (p.Ala2694Ser)
n.10493G>T
n.9482G>T
 dbSNP
12g.49039500C=CA2034959524KMT2Dc.8164G= (p.Ala2722=)
c.8173G= (p.Ala2725=)
c.2183G=
c.1837G= (p.Ala613=)
c.2273G=
c.8161G= (p.Ala2721=)
c.8170G= (p.Ala2724=)
c.8152G= (p.Ala2718=)
c.8080G= (p.Ala2694=)
n.10493G=
n.9482G=
12g.49039500C>GCA384743658KMT2Dc.8164G>C (p.Ala2722Pro)
c.8173G>C (p.Ala2725Pro)
c.2183G>C
c.1837G>C (p.Ala613Pro)
c.2273G>C
c.8161G>C (p.Ala2721Pro)
c.8170G>C (p.Ala2724Pro)
c.8152G>C (p.Ala2718Pro)
c.8080G>C (p.Ala2694Pro)
n.10493G>C
n.9482G>C
 dbSNP
12g.49039500C>TCA6546902KMT2Dc.8164G>A (p.Ala2722Thr)
c.8173G>A (p.Ala2725Thr)
c.2183G>A
c.1837G>A (p.Ala613Thr)
c.2273G>A
c.8161G>A (p.Ala2721Thr)
c.8170G>A (p.Ala2724Thr)
c.8152G>A (p.Ala2718Thr)
c.8080G>A (p.Ala2694Thr)
n.10493G>A
n.9482G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49039501A=CA2034959527KMT2Dc.8163T= (p.Gly2721=)
c.8172T= (p.Gly2724=)
c.2182T=
c.1836T= (p.Gly612=)
c.2272T=
c.8160T= (p.Gly2720=)
c.8169T= (p.Gly2723=)
c.8151T= (p.Gly2717=)
c.8079T= (p.Gly2693=)
n.10492T=
n.9481T=
12g.49039501A>CCA479710941KMT2Dc.8163T>G (p.Gly2721=)
c.8172T>G (p.Gly2724=)
c.2182T>G
c.1836T>G (p.Gly612=)
c.2272T>G
c.8160T>G (p.Gly2720=)
c.8169T>G (p.Gly2723=)
c.8151T>G (p.Gly2717=)
c.8079T>G (p.Gly2693=)
n.10492T>G
n.9481T>G
 dbSNP gnomAD v4
12g.49039501A>GCA479710943KMT2Dc.8163T>C (p.Gly2721=)
c.8172T>C (p.Gly2724=)
c.2182T>C
c.1836T>C (p.Gly612=)
c.2272T>C
c.8160T>C (p.Gly2720=)
c.8169T>C (p.Gly2723=)
c.8151T>C (p.Gly2717=)
c.8079T>C (p.Gly2693=)
n.10492T>C
n.9481T>C
12g.49039501A>TCA479710942KMT2Dc.8163T>A (p.Gly2721=)
c.8172T>A (p.Gly2724=)
c.2182T>A
c.1836T>A (p.Gly612=)
c.2272T>A
c.8160T>A (p.Gly2720=)
c.8169T>A (p.Gly2723=)
c.8151T>A (p.Gly2717=)
c.8079T>A (p.Gly2693=)
n.10492T>A
n.9481T>A
12g.49039502C>ACA384743671KMT2Dc.8162G>T (p.Gly2721Val)
c.8171G>T (p.Gly2724Val)
c.2181G>T
c.1835G>T (p.Gly612Val)
c.2271G>T
c.8159G>T (p.Gly2720Val)
c.8168G>T (p.Gly2723Val)
c.8150G>T (p.Gly2717Val)
c.8078G>T (p.Gly2693Val)
n.10491G>T
n.9480G>T
 dbSNP gnomAD v2 gnomAD v4
12g.49039502C=CA2034959531KMT2Dc.8162G= (p.Gly2721=)
c.8171G= (p.Gly2724=)
c.2181G=
c.1835G= (p.Gly612=)
c.2271G=
c.8159G= (p.Gly2720=)
c.8168G= (p.Gly2723=)
c.8150G= (p.Gly2717=)
c.8078G= (p.Gly2693=)
n.10491G=
n.9480G=
12g.49039502C>GCA384743679KMT2Dc.8162G>C (p.Gly2721Ala)
c.8171G>C (p.Gly2724Ala)
c.2181G>C
c.1835G>C (p.Gly612Ala)
c.2271G>C
c.8159G>C (p.Gly2720Ala)
c.8168G>C (p.Gly2723Ala)
c.8150G>C (p.Gly2717Ala)
c.8078G>C (p.Gly2693Ala)
n.10491G>C
n.9480G>C
 dbSNP
12g.49039502C>TCA6546903KMT2Dc.8162G>A (p.Gly2721Asp)
c.8171G>A (p.Gly2724Asp)
c.2181G>A
c.1835G>A (p.Gly612Asp)
c.2271G>A
c.8159G>A (p.Gly2720Asp)
c.8168G>A (p.Gly2723Asp)
c.8150G>A (p.Gly2717Asp)
c.8078G>A (p.Gly2693Asp)
n.10491G>A
n.9480G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039503C>ACA384743684KMT2Dc.8161G>T (p.Gly2721Cys)
c.8170G>T (p.Gly2724Cys)
c.2180G>T
c.1834G>T (p.Gly612Cys)
c.2270G>T
c.8158G>T (p.Gly2720Cys)
c.8167G>T (p.Gly2723Cys)
c.8149G>T (p.Gly2717Cys)
c.8077G>T (p.Gly2693Cys)
n.10490G>T
n.9479G>T
 dbSNP
12g.49039503C=CA2034959536KMT2Dc.8161G= (p.Gly2721=)
c.8170G= (p.Gly2724=)
c.2180G=
c.1834G= (p.Gly612=)
c.2270G=
c.8158G= (p.Gly2720=)
c.8167G= (p.Gly2723=)
c.8149G= (p.Gly2717=)
c.8077G= (p.Gly2693=)
n.10490G=
n.9479G=
12g.49039503C>GCA384743688KMT2Dc.8161G>C (p.Gly2721Arg)
c.8170G>C (p.Gly2724Arg)
c.2180G>C
c.1834G>C (p.Gly612Arg)
c.2270G>C
c.8158G>C (p.Gly2720Arg)
c.8167G>C (p.Gly2723Arg)
c.8149G>C (p.Gly2717Arg)
c.8077G>C (p.Gly2693Arg)
n.10490G>C
n.9479G>C
12g.49039503C>TCA384743698KMT2Dc.8161G>A (p.Gly2721Ser)
c.8170G>A (p.Gly2724Ser)
c.2180G>A
c.1834G>A (p.Gly612Ser)
c.2270G>A
c.8158G>A (p.Gly2720Ser)
c.8167G>A (p.Gly2723Ser)
c.8149G>A (p.Gly2717Ser)
c.8077G>A (p.Gly2693Ser)
n.10490G>A
n.9479G>A
 dbSNP
12g.49039504C>ACA384743707KMT2Dc.8160G>T (p.Trp2720Cys)
c.8169G>T (p.Trp2723Cys)
c.2179G>T
c.1833G>T (p.Trp611Cys)
c.2269G>T
c.8157G>T (p.Trp2719Cys)
c.8166G>T (p.Trp2722Cys)
c.8148G>T (p.Trp2716Cys)
c.8076G>T (p.Trp2692Cys)
n.10489G>T
n.9478G>T
 dbSNP
12g.49039504C>GCA384743705KMT2Dc.8160G>C (p.Trp2720Cys)
c.8169G>C (p.Trp2723Cys)
c.2179G>C
c.1833G>C (p.Trp611Cys)
c.2269G>C
c.8157G>C (p.Trp2719Cys)
c.8166G>C (p.Trp2722Cys)
c.8148G>C (p.Trp2716Cys)
c.8076G>C (p.Trp2692Cys)
n.10489G>C
n.9478G>C
12g.49039504C>TCA384743703KMT2Dc.8160G>A (p.Trp2720Ter)
c.8169G>A (p.Trp2723Ter)
c.2179G>A
c.1833G>A (p.Trp611Ter)
c.2269G>A
c.8157G>A (p.Trp2719Ter)
c.8166G>A (p.Trp2722Ter)
c.8148G>A (p.Trp2716Ter)
c.8076G>A (p.Trp2692Ter)
n.10489G>A
n.9478G>A
 dbSNP
12g.49039505C>ACA384743711KMT2Dc.8159G>T (p.Trp2720Leu)
c.8168G>T (p.Trp2723Leu)
c.2178G>T
c.1832G>T (p.Trp611Leu)
c.2268G>T
c.8156G>T (p.Trp2719Leu)
c.8165G>T (p.Trp2722Leu)
c.8147G>T (p.Trp2716Leu)
c.8075G>T (p.Trp2692Leu)
n.10488G>T
n.9477G>T
12g.49039505C=CA2034959540KMT2Dc.8159G= (p.Trp2720=)
c.8168G= (p.Trp2723=)
c.2178G=
c.1832G= (p.Trp611=)
c.2268G=
c.8156G= (p.Trp2719=)
c.8165G= (p.Trp2722=)
c.8147G= (p.Trp2716=)
c.8075G= (p.Trp2692=)
n.10488G=
n.9477G=
12g.49039505C>GCA384743715KMT2Dc.8159G>C (p.Trp2720Ser)
c.8168G>C (p.Trp2723Ser)
c.2178G>C
c.1832G>C (p.Trp611Ser)
c.2268G>C
c.8156G>C (p.Trp2719Ser)
c.8165G>C (p.Trp2722Ser)
c.8147G>C (p.Trp2716Ser)
c.8075G>C (p.Trp2692Ser)
n.10488G>C
n.9477G>C
12g.49039505C>TCA384743718KMT2Dc.8159G>A (p.Trp2720Ter)
c.8168G>A (p.Trp2723Ter)
c.2178G>A
c.1832G>A (p.Trp611Ter)
c.2268G>A
c.8156G>A (p.Trp2719Ter)
c.8165G>A (p.Trp2722Ter)
c.8147G>A (p.Trp2716Ter)
c.8075G>A (p.Trp2692Ter)
n.10488G>A
n.9477G>A
 dbSNP
12g.49039506A=CA2034959543KMT2Dc.8158T= (p.Trp2720=)
c.8167T= (p.Trp2723=)
c.2177T=
c.1831T= (p.Trp611=)
c.2267T=
c.8155T= (p.Trp2719=)
c.8164T= (p.Trp2722=)
c.8146T= (p.Trp2716=)
c.8074T= (p.Trp2692=)
n.10487T=
n.9476T=
12g.49039506A>CCA384743721KMT2Dc.8158T>G (p.Trp2720Gly)
c.8167T>G (p.Trp2723Gly)
c.2177T>G
c.1831T>G (p.Trp611Gly)
c.2267T>G
c.8155T>G (p.Trp2719Gly)
c.8164T>G (p.Trp2722Gly)
c.8146T>G (p.Trp2716Gly)
c.8074T>G (p.Trp2692Gly)
n.10487T>G
n.9476T>G
 dbSNP gnomAD v4
12g.49039506A>GCA384743723KMT2Dc.8158T>C (p.Trp2720Arg)
c.8167T>C (p.Trp2723Arg)
c.2177T>C
c.1831T>C (p.Trp611Arg)
c.2267T>C
c.8155T>C (p.Trp2719Arg)
c.8164T>C (p.Trp2722Arg)
c.8146T>C (p.Trp2716Arg)
c.8074T>C (p.Trp2692Arg)
n.10487T>C
n.9476T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039506A>TCA384743724KMT2Dc.8158T>A (p.Trp2720Arg)
c.8167T>A (p.Trp2723Arg)
c.2177T>A
c.1831T>A (p.Trp611Arg)
c.2267T>A
c.8155T>A (p.Trp2719Arg)
c.8164T>A (p.Trp2722Arg)
c.8146T>A (p.Trp2716Arg)
c.8074T>A (p.Trp2692Arg)
n.10487T>A
n.9476T>A
 dbSNP
12g.49039507G>ACA6546904KMT2Dc.8157C>T (p.Ser2719=)
c.8166C>T (p.Ser2722=)
c.2176C>T
c.1830C>T (p.Ser610=)
c.2266C>T
c.8154C>T (p.Ser2718=)
c.8163C>T (p.Ser2721=)
c.8145C>T (p.Ser2715=)
c.8073C>T (p.Ser2691=)
n.10486C>T
n.9475C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039507G>CCA384743728KMT2Dc.8157C>G (p.Ser2719Arg)
c.8166C>G (p.Ser2722Arg)
c.2176C>G
c.1830C>G (p.Ser610Arg)
c.2266C>G
c.8154C>G (p.Ser2718Arg)
c.8163C>G (p.Ser2721Arg)
c.8145C>G (p.Ser2715Arg)
c.8073C>G (p.Ser2691Arg)
n.10486C>G
n.9475C>G
 dbSNP
12g.49039507G=CA2034959547KMT2Dc.8157C= (p.Ser2719=)
c.8166C= (p.Ser2722=)
c.2176C=
c.1830C= (p.Ser610=)
c.2266C=
c.8154C= (p.Ser2718=)
c.8163C= (p.Ser2721=)
c.8145C= (p.Ser2715=)
c.8073C= (p.Ser2691=)
n.10486C=
n.9475C=
12g.49039507G>TCA384743731KMT2Dc.8157C>A (p.Ser2719Arg)
c.8166C>A (p.Ser2722Arg)
c.2176C>A
c.1830C>A (p.Ser610Arg)
c.2266C>A
c.8154C>A (p.Ser2718Arg)
c.8163C>A (p.Ser2721Arg)
c.8145C>A (p.Ser2715Arg)
c.8073C>A (p.Ser2691Arg)
n.10486C>A
n.9475C>A
 dbSNP
12g.49039508C>ACA384743733KMT2Dc.8156G>T (p.Ser2719Ile)
c.8165G>T (p.Ser2722Ile)
c.2175G>T
c.1829G>T (p.Ser610Ile)
c.2265G>T
c.8153G>T (p.Ser2718Ile)
c.8162G>T (p.Ser2721Ile)
c.8144G>T (p.Ser2715Ile)
c.8072G>T (p.Ser2691Ile)
n.10485G>T
n.9474G>T
 dbSNP
12g.49039508C=CA2034959550KMT2Dc.8156G= (p.Ser2719=)
c.8165G= (p.Ser2722=)
c.2175G=
c.1829G= (p.Ser610=)
c.2265G=
c.8153G= (p.Ser2718=)
c.8162G= (p.Ser2721=)
c.8144G= (p.Ser2715=)
c.8072G= (p.Ser2691=)
n.10485G=
n.9474G=
12g.49039508C>GCA6546905KMT2Dc.8156G>C (p.Ser2719Thr)
c.8165G>C (p.Ser2722Thr)
c.2175G>C
c.1829G>C (p.Ser610Thr)
c.2265G>C
c.8153G>C (p.Ser2718Thr)
c.8162G>C (p.Ser2721Thr)
c.8144G>C (p.Ser2715Thr)
c.8072G>C (p.Ser2691Thr)
n.10485G>C
n.9474G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039508C>TCA384743736KMT2Dc.8156G>A (p.Ser2719Asn)
c.8165G>A (p.Ser2722Asn)
c.2175G>A
c.1829G>A (p.Ser610Asn)
c.2265G>A
c.8153G>A (p.Ser2718Asn)
c.8162G>A (p.Ser2721Asn)
c.8144G>A (p.Ser2715Asn)
c.8072G>A (p.Ser2691Asn)
n.10485G>A
n.9474G>A
 dbSNP
12g.49039509T>ACA384743753KMT2Dc.8155A>T (p.Ser2719Cys)
c.8164A>T (p.Ser2722Cys)
c.2174A>T
c.1828A>T (p.Ser610Cys)
c.2264A>T
c.8152A>T (p.Ser2718Cys)
c.8161A>T (p.Ser2721Cys)
c.8143A>T (p.Ser2715Cys)
c.8071A>T (p.Ser2691Cys)
n.10484A>T
n.9473A>T
 dbSNP
12g.49039509T>CCA384743748KMT2Dc.8155A>G (p.Ser2719Gly)
c.8164A>G (p.Ser2722Gly)
c.2174A>G
c.1828A>G (p.Ser610Gly)
c.2264A>G
c.8152A>G (p.Ser2718Gly)
c.8161A>G (p.Ser2721Gly)
c.8143A>G (p.Ser2715Gly)
c.8071A>G (p.Ser2691Gly)
n.10484A>G
n.9473A>G
 ClinVar dbSNP
12g.49039509T>GCA384743741KMT2Dc.8155A>C (p.Ser2719Arg)
c.8164A>C (p.Ser2722Arg)
c.2174A>C
c.1828A>C (p.Ser610Arg)
c.2264A>C
c.8152A>C (p.Ser2718Arg)
c.8161A>C (p.Ser2721Arg)
c.8143A>C (p.Ser2715Arg)
c.8071A>C (p.Ser2691Arg)
n.10484A>C
n.9473A>C
12g.49039510G>ACA479710957KMT2Dc.8154C>T (p.Gly2718=)
c.8163C>T (p.Gly2721=)
c.2173C>T
c.1827C>T (p.Gly609=)
c.2263C>T
c.8151C>T (p.Gly2717=)
c.8160C>T (p.Gly2720=)
c.8142C>T (p.Gly2714=)
c.8070C>T (p.Gly2690=)
n.10483C>T
n.9472C>T
 ClinVar dbSNP gnomAD v4
12g.49039510G>CCA479710958KMT2Dc.8154C>G (p.Gly2718=)
c.8163C>G (p.Gly2721=)
c.2173C>G
c.1827C>G (p.Gly609=)
c.2263C>G
c.8151C>G (p.Gly2717=)
c.8160C>G (p.Gly2720=)
c.8142C>G (p.Gly2714=)
c.8070C>G (p.Gly2690=)
n.10483C>G
n.9472C>G
 dbSNP
12g.49039510G=CA2034959554KMT2Dc.8154C= (p.Gly2718=)
c.8163C= (p.Gly2721=)
c.2173C=
c.1827C= (p.Gly609=)
c.2263C=
c.8151C= (p.Gly2717=)
c.8160C= (p.Gly2720=)
c.8142C= (p.Gly2714=)
c.8070C= (p.Gly2690=)
n.10483C=
n.9472C=
12g.49039510G>TCA6546906KMT2Dc.8154C>A (p.Gly2718=)
c.8163C>A (p.Gly2721=)
c.2173C>A
c.1827C>A (p.Gly609=)
c.2263C>A
c.8151C>A (p.Gly2717=)
c.8160C>A (p.Gly2720=)
c.8142C>A (p.Gly2714=)
c.8070C>A (p.Gly2690=)
n.10483C>A
n.9472C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039511C>ACA236646403KMT2Dc.8153G>T (p.Gly2718Val)
c.8162G>T (p.Gly2721Val)
c.2172G>T
c.1826G>T (p.Gly609Val)
c.2262G>T
c.8150G>T (p.Gly2717Val)
c.8159G>T (p.Gly2720Val)
c.8141G>T (p.Gly2714Val)
c.8069G>T (p.Gly2690Val)
n.10482G>T
n.9471G>T
 dbSNP
12g.49039511C=CA2034959557KMT2Dc.8153G= (p.Gly2718=)
c.8162G= (p.Gly2721=)
c.2172G=
c.1826G= (p.Gly609=)
c.2262G=
c.8150G= (p.Gly2717=)
c.8159G= (p.Gly2720=)
c.8141G= (p.Gly2714=)
c.8069G= (p.Gly2690=)
n.10482G=
n.9471G=
12g.49039511C>GCA384743754KMT2Dc.8153G>C (p.Gly2718Ala)
c.8162G>C (p.Gly2721Ala)
c.2172G>C
c.1826G>C (p.Gly609Ala)
c.2262G>C
c.8150G>C (p.Gly2717Ala)
c.8159G>C (p.Gly2720Ala)
c.8141G>C (p.Gly2714Ala)
c.8069G>C (p.Gly2690Ala)
n.10482G>C
n.9471G>C
 dbSNP
12g.49039511C>TCA384743755KMT2Dc.8153G>A (p.Gly2718Asp)
c.8162G>A (p.Gly2721Asp)
c.2172G>A
c.1826G>A (p.Gly609Asp)
c.2262G>A
c.8150G>A (p.Gly2717Asp)
c.8159G>A (p.Gly2720Asp)
c.8141G>A (p.Gly2714Asp)
c.8069G>A (p.Gly2690Asp)
n.10482G>A
n.9471G>A
 dbSNP
12g.49039512C>ACA384743758KMT2Dc.8152G>T (p.Gly2718Cys)
c.8161G>T (p.Gly2721Cys)
c.2171G>T
c.1825G>T (p.Gly609Cys)
c.2261G>T
c.8149G>T (p.Gly2717Cys)
c.8158G>T (p.Gly2720Cys)
c.8140G>T (p.Gly2714Cys)
c.8068G>T (p.Gly2690Cys)
n.10481G>T
n.9470G>T
12g.49039512C=CA2034959562KMT2Dc.8152G= (p.Gly2718=)
c.8161G= (p.Gly2721=)
c.2171G=
c.1825G= (p.Gly609=)
c.2261G=
c.8149G= (p.Gly2717=)
c.8158G= (p.Gly2720=)
c.8140G= (p.Gly2714=)
c.8068G= (p.Gly2690=)
n.10481G=
n.9470G=
12g.49039512C>GCA384743759KMT2Dc.8152G>C (p.Gly2718Arg)
c.8161G>C (p.Gly2721Arg)
c.2171G>C
c.1825G>C (p.Gly609Arg)
c.2261G>C
c.8149G>C (p.Gly2717Arg)
c.8158G>C (p.Gly2720Arg)
c.8140G>C (p.Gly2714Arg)
c.8068G>C (p.Gly2690Arg)
n.10481G>C
n.9470G>C
12g.49039512C>TCA384743765KMT2Dc.8152G>A (p.Gly2718Ser)
c.8161G>A (p.Gly2721Ser)
c.2171G>A
c.1825G>A (p.Gly609Ser)
c.2261G>A
c.8149G>A (p.Gly2717Ser)
c.8158G>A (p.Gly2720Ser)
c.8140G>A (p.Gly2714Ser)
c.8068G>A (p.Gly2690Ser)
n.10481G>A
n.9470G>A
 dbSNP gnomAD v4
12g.49039513T>ACA479710963KMT2Dc.8151A>T (p.Pro2717=)
c.8160A>T (p.Pro2720=)
c.2170A>T
c.1824A>T (p.Pro608=)
c.2260A>T
c.8148A>T (p.Pro2716=)
c.8157A>T (p.Pro2719=)
c.8139A>T (p.Pro2713=)
c.8067A>T (p.Pro2689=)
n.10480A>T
n.9469A>T
12g.49039513T>CCA479710965KMT2Dc.8151A>G (p.Pro2717=)
c.8160A>G (p.Pro2720=)
c.2170A>G
c.1824A>G (p.Pro608=)
c.2260A>G
c.8148A>G (p.Pro2716=)
c.8157A>G (p.Pro2719=)
c.8139A>G (p.Pro2713=)
c.8067A>G (p.Pro2689=)
n.10480A>G
n.9469A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49039513T>GCA479710966KMT2Dc.8151A>C (p.Pro2717=)
c.8160A>C (p.Pro2720=)
c.2170A>C
c.1824A>C (p.Pro608=)
c.2260A>C
c.8148A>C (p.Pro2716=)
c.8157A>C (p.Pro2719=)
c.8139A>C (p.Pro2713=)
c.8067A>C (p.Pro2689=)
n.10480A>C
n.9469A>C
 ClinVar
12g.49039513T=CA2034959565KMT2Dc.8151A= (p.Pro2717=)
c.8160A= (p.Pro2720=)
c.2170A=
c.1824A= (p.Pro608=)
c.2260A=
c.8148A= (p.Pro2716=)
c.8157A= (p.Pro2719=)
c.8139A= (p.Pro2713=)
c.8067A= (p.Pro2689=)
n.10480A=
n.9469A=
12g.49039514G>ACA384743784KMT2Dc.8150C>T (p.Pro2717Leu)
c.8159C>T (p.Pro2720Leu)
c.2169C>T
c.1823C>T (p.Pro608Leu)
c.2259C>T
c.8147C>T (p.Pro2716Leu)
c.8156C>T (p.Pro2719Leu)
c.8138C>T (p.Pro2713Leu)
c.8066C>T (p.Pro2689Leu)
n.10479C>T
n.9468C>T
 dbSNP
12g.49039514G>CCA384743783KMT2Dc.8150C>G (p.Pro2717Arg)
c.8159C>G (p.Pro2720Arg)
c.2169C>G
c.1823C>G (p.Pro608Arg)
c.2259C>G
c.8147C>G (p.Pro2716Arg)
c.8156C>G (p.Pro2719Arg)
c.8138C>G (p.Pro2713Arg)
c.8066C>G (p.Pro2689Arg)
n.10479C>G
n.9468C>G
 dbSNP
12g.49039514G>TCA384743772KMT2Dc.8150C>A (p.Pro2717Gln)
c.8159C>A (p.Pro2720Gln)
c.2169C>A
c.1823C>A (p.Pro608Gln)
c.2259C>A
c.8147C>A (p.Pro2716Gln)
c.8156C>A (p.Pro2719Gln)
c.8138C>A (p.Pro2713Gln)
c.8066C>A (p.Pro2689Gln)
n.10479C>A
n.9468C>A
12g.49039515G>ACA6546907KMT2Dc.8149C>T (p.Pro2717Ser)
c.8158C>T (p.Pro2720Ser)
c.2168C>T
c.1822C>T (p.Pro608Ser)
c.2258C>T
c.8146C>T (p.Pro2716Ser)
c.8155C>T (p.Pro2719Ser)
c.8137C>T (p.Pro2713Ser)
c.8065C>T (p.Pro2689Ser)
n.10478C>T
n.9467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039515G>CCA384743785KMT2Dc.8149C>G (p.Pro2717Ala)
c.8158C>G (p.Pro2720Ala)
c.2168C>G
c.1822C>G (p.Pro608Ala)
c.2258C>G
c.8146C>G (p.Pro2716Ala)
c.8155C>G (p.Pro2719Ala)
c.8137C>G (p.Pro2713Ala)
c.8065C>G (p.Pro2689Ala)
n.10478C>G
n.9467C>G
 dbSNP
12g.49039515G=CA2034959572KMT2Dc.8149C= (p.Pro2717=)
c.8158C= (p.Pro2720=)
c.2168C=
c.1822C= (p.Pro608=)
c.2258C=
c.8146C= (p.Pro2716=)
c.8155C= (p.Pro2719=)
c.8137C= (p.Pro2713=)
c.8065C= (p.Pro2689=)
n.10478C=
n.9467C=
12g.49039515G>TCA384743786KMT2Dc.8149C>A (p.Pro2717Thr)
c.8158C>A (p.Pro2720Thr)
c.2168C>A
c.1822C>A (p.Pro608Thr)
c.2258C>A
c.8146C>A (p.Pro2716Thr)
c.8155C>A (p.Pro2719Thr)
c.8137C>A (p.Pro2713Thr)
c.8065C>A (p.Pro2689Thr)
n.10478C>A
n.9467C>A
12g.49039515_49039516delinsAGCA160573KMT2Dc.8148_8149delinsCT (p.Pro2717Ser)
c.8157_8158delinsCT (p.Pro2720Ser)
c.2167_2168delinsCT
c.1821_1822delinsCT (p.Pro608Ser)
c.2257_2258delinsCT
c.8145_8146delinsCT (p.Pro2716Ser)
c.8154_8155delinsCT (p.Pro2719Ser)
c.8136_8137delinsCT (p.Pro2713Ser)
c.8064_8065delinsCT (p.Pro2689Ser)
n.10477_10478delinsCT
n.9466_9467delinsCT
 ClinVar dbSNP
12g.49039515_49039516delinsGACA2034959571KMT2Dc.8148_8149delinsTC (p.Pro2716=)
c.8157_8158delinsTC (p.Pro2719=)
c.2167_2168delinsTC
c.1821_1822delinsTC (p.Pro607=)
c.2257_2258delinsTC
c.8145_8146delinsTC (p.Pro2715=)
c.8154_8155delinsTC (p.Pro2718=)
c.8136_8137delinsTC (p.Pro2712=)
c.8064_8065delinsTC (p.Pro2688=)
n.10477_10478delinsTC
n.9466_9467delinsTC
12g.49039516A=CA2034959577KMT2Dc.8148T= (p.Pro2716=)
c.8157T= (p.Pro2719=)
c.2167T=
c.1821T= (p.Pro607=)
c.2257T=
c.8145T= (p.Pro2715=)
c.8154T= (p.Pro2718=)
c.8136T= (p.Pro2712=)
c.8064T= (p.Pro2688=)
n.10477T=
n.9466T=
12g.49039516A>CCA236646419KMT2Dc.8148T>G (p.Pro2716=)
c.8157T>G (p.Pro2719=)
c.2167T>G
c.1821T>G (p.Pro607=)
c.2257T>G
c.8145T>G (p.Pro2715=)
c.8154T>G (p.Pro2718=)
c.8136T>G (p.Pro2712=)
c.8064T>G (p.Pro2688=)
n.10477T>G
n.9466T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49039516A>GCA6546908KMT2Dc.8148T>C (p.Pro2716=)
c.8157T>C (p.Pro2719=)
c.2167T>C
c.1821T>C (p.Pro607=)
c.2257T>C
c.8145T>C (p.Pro2715=)
c.8154T>C (p.Pro2718=)
c.8136T>C (p.Pro2712=)
c.8064T>C (p.Pro2688=)
n.10477T>C
n.9466T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49039516A>TCA479710968KMT2Dc.8148T>A (p.Pro2716=)
c.8157T>A (p.Pro2719=)
c.2167T>A
c.1821T>A (p.Pro607=)
c.2257T>A
c.8145T>A (p.Pro2715=)
c.8154T>A (p.Pro2718=)
c.8136T>A (p.Pro2712=)
c.8064T>A (p.Pro2688=)
n.10477T>A
n.9466T>A
 dbSNP
12g.49039517G>ACA384743798KMT2Dc.8147C>T (p.Pro2716Leu)
c.8156C>T (p.Pro2719Leu)
c.2166C>T
c.1820C>T (p.Pro607Leu)
c.2256C>T
c.8144C>T (p.Pro2715Leu)
c.8153C>T (p.Pro2718Leu)
c.8135C>T (p.Pro2712Leu)
c.8063C>T (p.Pro2688Leu)
n.10476C>T
n.9465C>T
 gnomAD v4
12g.49039517G>CCA384743812KMT2Dc.8147C>G (p.Pro2716Arg)
c.8156C>G (p.Pro2719Arg)
c.2166C>G
c.1820C>G (p.Pro607Arg)
c.2256C>G
c.8144C>G (p.Pro2715Arg)
c.8153C>G (p.Pro2718Arg)
c.8135C>G (p.Pro2712Arg)
c.8063C>G (p.Pro2688Arg)
n.10476C>G
n.9465C>G
 dbSNP
12g.49039517G>TCA384743810KMT2Dc.8147C>A (p.Pro2716His)
c.8156C>A (p.Pro2719His)
c.2166C>A
c.1820C>A (p.Pro607His)
c.2256C>A
c.8144C>A (p.Pro2715His)
c.8153C>A (p.Pro2718His)
c.8135C>A (p.Pro2712His)
c.8063C>A (p.Pro2688His)
n.10476C>A
n.9465C>A

Number of alleles fetched