Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118491165A=CA2003519055KMT2Ac.4796-31A= (n.4796-31A=)
c.473-31A= (n.473-31A=)
c.4697-31A= (n.4697-31A=)
c.4583-31A= (n.4583-31A=)
c.833-31A= (n.833-31A=)
c.2180-31A= (n.2180-31A=)
c.4793-31A= (n.4793-31A=)
c.2603-31A= (n.2603-31A=)
c.2279-31A= (n.2279-31A=)
11g.118491166G>ACA2003519059KMT2Ac.4796-30G>A (n.4796-30G>A)
c.473-30G>A (n.473-30G>A)
c.4697-30G>A (n.4697-30G>A)
c.4583-30G>A (n.4583-30G>A)
c.833-30G>A (n.833-30G>A)
c.2180-30G>A (n.2180-30G>A)
c.4793-30G>A (n.4793-30G>A)
c.2603-30G>A (n.2603-30G>A)
c.2279-30G>A (n.2279-30G>A)
 dbSNP gnomAD v4
11g.118491166G=CA2003519057KMT2Ac.4796-30G= (n.4796-30G=)
c.473-30G= (n.473-30G=)
c.4697-30G= (n.4697-30G=)
c.4583-30G= (n.4583-30G=)
c.833-30G= (n.833-30G=)
c.2180-30G= (n.2180-30G=)
c.4793-30G= (n.4793-30G=)
c.2603-30G= (n.2603-30G=)
c.2279-30G= (n.2279-30G=)
11g.118491166_118491169dupCA6303938KMT2Ac.4796-30_4796-27dup (n.4796-30_4796-27dup)
c.473-30_473-27dup (n.473-30_473-27dup)
c.4697-30_4697-27dup (n.4697-30_4697-27dup)
c.4583-30_4583-27dup (n.4583-30_4583-27dup)
c.833-30_833-27dup (n.833-30_833-27dup)
c.2180-30_2180-27dup (n.2180-30_2180-27dup)
c.4793-30_4793-27dup (n.4793-30_4793-27dup)
c.2603-30_2603-27dup (n.2603-30_2603-27dup)
c.2279-30_2279-27dup (n.2279-30_2279-27dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118491167C=CA2003519066KMT2Ac.4796-29C= (n.4796-29C=)
c.473-29C= (n.473-29C=)
c.4697-29C= (n.4697-29C=)
c.4583-29C= (n.4583-29C=)
c.833-29C= (n.833-29C=)
c.2180-29C= (n.2180-29C=)
c.4793-29C= (n.4793-29C=)
c.2603-29C= (n.2603-29C=)
c.2279-29C= (n.2279-29C=)
11g.118491167C>GCA602140724KMT2Ac.4796-29C>G (n.4796-29C>G)
c.473-29C>G (n.473-29C>G)
c.4697-29C>G (n.4697-29C>G)
c.4583-29C>G (n.4583-29C>G)
c.833-29C>G (n.833-29C>G)
c.2180-29C>G (n.2180-29C>G)
c.4793-29C>G (n.4793-29C>G)
c.2603-29C>G (n.2603-29C>G)
c.2279-29C>G (n.2279-29C>G)
 dbSNP gnomAD v2 gnomAD v4
11g.118491168A=CA2003519068KMT2Ac.4796-28A= (n.4796-28A=)
c.473-28A= (n.473-28A=)
c.4697-28A= (n.4697-28A=)
c.4583-28A= (n.4583-28A=)
c.833-28A= (n.833-28A=)
c.2180-28A= (n.2180-28A=)
c.4793-28A= (n.4793-28A=)
c.2603-28A= (n.2603-28A=)
c.2279-28A= (n.2279-28A=)
11g.118491168A>CCA2562819439KMT2Ac.4796-28A>C (n.4796-28A>C)
c.473-28A>C (n.473-28A>C)
c.4697-28A>C (n.4697-28A>C)
c.4583-28A>C (n.4583-28A>C)
c.833-28A>C (n.833-28A>C)
c.2180-28A>C (n.2180-28A>C)
c.4793-28A>C (n.4793-28A>C)
c.2603-28A>C (n.2603-28A>C)
c.2279-28A>C (n.2279-28A>C)
11g.118491168A>GCA602140725KMT2Ac.4796-28A>G (n.4796-28A>G)
c.473-28A>G (n.473-28A>G)
c.4697-28A>G (n.4697-28A>G)
c.4583-28A>G (n.4583-28A>G)
c.833-28A>G (n.833-28A>G)
c.2180-28A>G (n.2180-28A>G)
c.4793-28A>G (n.4793-28A>G)
c.2603-28A>G (n.2603-28A>G)
c.2279-28A>G (n.2279-28A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491170T>GCA602140726KMT2Ac.4796-26T>G (n.4796-26T>G)
c.473-26T>G (n.473-26T>G)
c.4697-26T>G (n.4697-26T>G)
c.4583-26T>G (n.4583-26T>G)
c.833-26T>G (n.833-26T>G)
c.2180-26T>G (n.2180-26T>G)
c.4793-26T>G (n.4793-26T>G)
c.2603-26T>G (n.2603-26T>G)
c.2279-26T>G (n.2279-26T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.118491170T=CA2003519070KMT2Ac.4796-26T= (n.4796-26T=)
c.473-26T= (n.473-26T=)
c.4697-26T= (n.4697-26T=)
c.4583-26T= (n.4583-26T=)
c.833-26T= (n.833-26T=)
c.2180-26T= (n.2180-26T=)
c.4793-26T= (n.4793-26T=)
c.2603-26T= (n.2603-26T=)
c.2279-26T= (n.2279-26T=)
11g.118491171G>ACA2616262799KMT2Ac.4796-25G>A (n.4796-25G>A)
c.473-25G>A (n.473-25G>A)
c.4697-25G>A (n.4697-25G>A)
c.4583-25G>A (n.4583-25G>A)
c.833-25G>A (n.833-25G>A)
c.2180-25G>A (n.2180-25G>A)
c.4793-25G>A (n.4793-25G>A)
c.2603-25G>A (n.2603-25G>A)
c.2279-25G>A (n.2279-25G>A)
 dbSNP gnomAD v4
11g.118491172C>ACA2725070780KMT2Ac.4796-24C>A (n.4796-24C>A)
c.473-24C>A (n.473-24C>A)
c.4697-24C>A (n.4697-24C>A)
c.4583-24C>A (n.4583-24C>A)
c.833-24C>A (n.833-24C>A)
c.2180-24C>A (n.2180-24C>A)
c.4793-24C>A (n.4793-24C>A)
c.2603-24C>A (n.2603-24C>A)
c.2279-24C>A (n.2279-24C>A)
 dbSNP
11g.118491172C>TCA2616262800KMT2Ac.4796-24C>T (n.4796-24C>T)
c.473-24C>T (n.473-24C>T)
c.4697-24C>T (n.4697-24C>T)
c.4583-24C>T (n.4583-24C>T)
c.833-24C>T (n.833-24C>T)
c.2180-24C>T (n.2180-24C>T)
c.4793-24C>T (n.4793-24C>T)
c.2603-24C>T (n.2603-24C>T)
c.2279-24C>T (n.2279-24C>T)
 gnomAD v4
11g.118491174G>ACA2725070786KMT2Ac.4796-22G>A (n.4796-22G>A)
c.473-22G>A (n.473-22G>A)
c.4697-22G>A (n.4697-22G>A)
c.4583-22G>A (n.4583-22G>A)
c.833-22G>A (n.833-22G>A)
c.2180-22G>A (n.2180-22G>A)
c.4793-22G>A (n.4793-22G>A)
c.2603-22G>A (n.2603-22G>A)
c.2279-22G>A (n.2279-22G>A)
 dbSNP
11g.118491174G>CCA2616262801KMT2Ac.4796-22G>C (n.4796-22G>C)
c.473-22G>C (n.473-22G>C)
c.4697-22G>C (n.4697-22G>C)
c.4583-22G>C (n.4583-22G>C)
c.833-22G>C (n.833-22G>C)
c.2180-22G>C (n.2180-22G>C)
c.4793-22G>C (n.4793-22G>C)
c.2603-22G>C (n.2603-22G>C)
c.2279-22G>C (n.2279-22G>C)
 gnomAD v4
11g.118491176A>GCA2616262802KMT2Ac.4796-20A>G (n.4796-20A>G)
c.473-20A>G (n.473-20A>G)
c.4697-20A>G (n.4697-20A>G)
c.4583-20A>G (n.4583-20A>G)
c.833-20A>G (n.833-20A>G)
c.2180-20A>G (n.2180-20A>G)
c.4793-20A>G (n.4793-20A>G)
c.2603-20A>G (n.2603-20A>G)
c.2279-20A>G (n.2279-20A>G)
 gnomAD v4
11g.118491179C>TCA2616262803KMT2Ac.4796-17C>T (n.4796-17C>T)
c.473-17C>T (n.473-17C>T)
c.4697-17C>T (n.4697-17C>T)
c.4583-17C>T (n.4583-17C>T)
c.833-17C>T (n.833-17C>T)
c.2180-17C>T (n.2180-17C>T)
c.4793-17C>T (n.4793-17C>T)
c.2603-17C>T (n.2603-17C>T)
c.2279-17C>T (n.2279-17C>T)
 dbSNP gnomAD v4
11g.118491188_118491192dupCA2580615084KMT2Ac.4796-8_4796-4dup (n.4796-8_4796-4dup)
c.473-8_473-4dup (n.473-8_473-4dup)
c.4697-8_4697-4dup (n.4697-8_4697-4dup)
c.4583-8_4583-4dup (n.4583-8_4583-4dup)
c.833-8_833-4dup (n.833-8_833-4dup)
c.2180-8_2180-4dup (n.2180-8_2180-4dup)
c.4793-8_4793-4dup (n.4793-8_4793-4dup)
c.2603-8_2603-4dup (n.2603-8_2603-4dup)
c.2279-8_2279-4dup (n.2279-8_2279-4dup)
 ClinVar gnomAD v4
11g.118491182T>CCA602140727KMT2Ac.4796-14T>C (n.4796-14T>C)
c.473-14T>C (n.473-14T>C)
c.4697-14T>C (n.4697-14T>C)
c.4583-14T>C (n.4583-14T>C)
c.833-14T>C (n.833-14T>C)
c.2180-14T>C (n.2180-14T>C)
c.4793-14T>C (n.4793-14T>C)
c.2603-14T>C (n.2603-14T>C)
c.2279-14T>C (n.2279-14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491182T=CA2003519071KMT2Ac.4796-14T= (n.4796-14T=)
c.473-14T= (n.473-14T=)
c.4697-14T= (n.4697-14T=)
c.4583-14T= (n.4583-14T=)
c.833-14T= (n.833-14T=)
c.2180-14T= (n.2180-14T=)
c.4793-14T= (n.4793-14T=)
c.2603-14T= (n.2603-14T=)
c.2279-14T= (n.2279-14T=)
11g.118491183G>ACA2574995531KMT2Ac.4796-13G>A (n.4796-13G>A)
c.473-13G>A (n.473-13G>A)
c.4697-13G>A (n.4697-13G>A)
c.4583-13G>A (n.4583-13G>A)
c.833-13G>A (n.833-13G>A)
c.2180-13G>A (n.2180-13G>A)
c.4793-13G>A (n.4793-13G>A)
c.2603-13G>A (n.2603-13G>A)
c.2279-13G>A (n.2279-13G>A)
 gnomAD v4
11g.118491183G>CCA2616262804KMT2Ac.4796-13G>C (n.4796-13G>C)
c.473-13G>C (n.473-13G>C)
c.4697-13G>C (n.4697-13G>C)
c.4583-13G>C (n.4583-13G>C)
c.833-13G>C (n.833-13G>C)
c.2180-13G>C (n.2180-13G>C)
c.4793-13G>C (n.4793-13G>C)
c.2603-13G>C (n.2603-13G>C)
c.2279-13G>C (n.2279-13G>C)
 gnomAD v4
11g.118491183G=CA2003519074KMT2Ac.4796-13G= (n.4796-13G=)
c.473-13G= (n.473-13G=)
c.4697-13G= (n.4697-13G=)
c.4583-13G= (n.4583-13G=)
c.833-13G= (n.833-13G=)
c.2180-13G= (n.2180-13G=)
c.4793-13G= (n.4793-13G=)
c.2603-13G= (n.2603-13G=)
c.2279-13G= (n.2279-13G=)
11g.118491183G>TCA6303939KMT2Ac.4796-13G>T (n.4796-13G>T)
c.473-13G>T (n.473-13G>T)
c.4697-13G>T (n.4697-13G>T)
c.4583-13G>T (n.4583-13G>T)
c.833-13G>T (n.833-13G>T)
c.2180-13G>T (n.2180-13G>T)
c.4793-13G>T (n.4793-13G>T)
c.2603-13G>T (n.2603-13G>T)
c.2279-13G>T (n.2279-13G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118491185T>ACA602140728KMT2Ac.4796-11T>A (n.4796-11T>A)
c.473-11T>A (n.473-11T>A)
c.4697-11T>A (n.4697-11T>A)
c.4583-11T>A (n.4583-11T>A)
c.833-11T>A (n.833-11T>A)
c.2180-11T>A (n.2180-11T>A)
c.4793-11T>A (n.4793-11T>A)
c.2603-11T>A (n.2603-11T>A)
c.2279-11T>A (n.2279-11T>A)
 dbSNP gnomAD v2
11g.118491185T>CCA2616262805KMT2Ac.4796-11T>C (n.4796-11T>C)
c.473-11T>C (n.473-11T>C)
c.4697-11T>C (n.4697-11T>C)
c.4583-11T>C (n.4583-11T>C)
c.833-11T>C (n.833-11T>C)
c.2180-11T>C (n.2180-11T>C)
c.4793-11T>C (n.4793-11T>C)
c.2603-11T>C (n.2603-11T>C)
c.2279-11T>C (n.2279-11T>C)
 gnomAD v4
11g.118491185T=CA2003519076KMT2Ac.4796-11T= (n.4796-11T=)
c.473-11T= (n.473-11T=)
c.4697-11T= (n.4697-11T=)
c.4583-11T= (n.4583-11T=)
c.833-11T= (n.833-11T=)
c.2180-11T= (n.2180-11T=)
c.4793-11T= (n.4793-11T=)
c.2603-11T= (n.2603-11T=)
c.2279-11T= (n.2279-11T=)
11g.118491186T>GCA2616262807KMT2Ac.4796-10T>G (n.4796-10T>G)
c.473-10T>G (n.473-10T>G)
c.4697-10T>G (n.4697-10T>G)
c.4583-10T>G (n.4583-10T>G)
c.833-10T>G (n.833-10T>G)
c.2180-10T>G (n.2180-10T>G)
c.4793-10T>G (n.4793-10T>G)
c.2603-10T>G (n.2603-10T>G)
c.2279-10T>G (n.2279-10T>G)
 ClinVar gnomAD v4
11g.118491187T>CCA602140729KMT2Ac.4796-9T>C (n.4796-9T>C)
c.473-9T>C (n.473-9T>C)
c.4697-9T>C (n.4697-9T>C)
c.4583-9T>C (n.4583-9T>C)
c.833-9T>C (n.833-9T>C)
c.2180-9T>C (n.2180-9T>C)
c.4793-9T>C (n.4793-9T>C)
c.2603-9T>C (n.2603-9T>C)
c.2279-9T>C (n.2279-9T>C)
 dbSNP gnomAD v2 gnomAD v4
11g.118491187T=CA2003519078KMT2Ac.4796-9T= (n.4796-9T=)
c.473-9T= (n.473-9T=)
c.4697-9T= (n.4697-9T=)
c.4583-9T= (n.4583-9T=)
c.833-9T= (n.833-9T=)
c.2180-9T= (n.2180-9T=)
c.4793-9T= (n.4793-9T=)
c.2603-9T= (n.2603-9T=)
c.2279-9T= (n.2279-9T=)
11g.118491188G>ACA2574995532KMT2Ac.4796-8G>A (n.4796-8G>A)
c.473-8G>A (n.473-8G>A)
c.4697-8G>A (n.4697-8G>A)
c.4583-8G>A (n.4583-8G>A)
c.833-8G>A (n.833-8G>A)
c.2180-8G>A (n.2180-8G>A)
c.4793-8G>A (n.4793-8G>A)
c.2603-8G>A (n.2603-8G>A)
c.2279-8G>A (n.2279-8G>A)
11g.118491188G>CCA2725070865KMT2Ac.4796-8G>C (n.4796-8G>C)
c.473-8G>C (n.473-8G>C)
c.4697-8G>C (n.4697-8G>C)
c.4583-8G>C (n.4583-8G>C)
c.833-8G>C (n.833-8G>C)
c.2180-8G>C (n.2180-8G>C)
c.4793-8G>C (n.4793-8G>C)
c.2603-8G>C (n.2603-8G>C)
c.2279-8G>C (n.2279-8G>C)
 dbSNP
11g.118491189C>TCA2725070964KMT2Ac.4796-7C>T (n.4796-7C>T)
c.473-7C>T (n.473-7C>T)
c.4697-7C>T (n.4697-7C>T)
c.4583-7C>T (n.4583-7C>T)
c.833-7C>T (n.833-7C>T)
c.2180-7C>T (n.2180-7C>T)
c.4793-7C>T (n.4793-7C>T)
c.2603-7C>T (n.2603-7C>T)
c.2279-7C>T (n.2279-7C>T)
 dbSNP
11g.118491192T>CCA2003519081KMT2Ac.4796-4T>C (n.4796-4T>C)
c.473-4T>C (n.473-4T>C)
c.4697-4T>C (n.4697-4T>C)
c.4583-4T>C (n.4583-4T>C)
c.833-4T>C (n.833-4T>C)
c.2180-4T>C (n.2180-4T>C)
c.4793-4T>C (n.4793-4T>C)
c.2603-4T>C (n.2603-4T>C)
c.2279-4T>C (n.2279-4T>C)
 dbSNP
11g.118491192T=CA2003519080KMT2Ac.4796-4T= (n.4796-4T=)
c.473-4T= (n.473-4T=)
c.4697-4T= (n.4697-4T=)
c.4583-4T= (n.4583-4T=)
c.833-4T= (n.833-4T=)
c.2180-4T= (n.2180-4T=)
c.4793-4T= (n.4793-4T=)
c.2603-4T= (n.2603-4T=)
c.2279-4T= (n.2279-4T=)
11g.118491194A>CCA382834231KMT2Ac.4796-2A>C (n.4796-2A>C)
c.473-2A>C (n.473-2A>C)
c.4697-2A>C (n.4697-2A>C)
c.4583-2A>C (n.4583-2A>C)
c.833-2A>C (n.833-2A>C)
c.2180-2A>C (n.2180-2A>C)
c.4793-2A>C (n.4793-2A>C)
c.2603-2A>C (n.2603-2A>C)
c.2279-2A>C (n.2279-2A>C)
11g.118491194A>GCA382834229KMT2Ac.4796-2A>G (n.4796-2A>G)
c.473-2A>G (n.473-2A>G)
c.4697-2A>G (n.4697-2A>G)
c.4583-2A>G (n.4583-2A>G)
c.833-2A>G (n.833-2A>G)
c.2180-2A>G (n.2180-2A>G)
c.4793-2A>G (n.4793-2A>G)
c.2603-2A>G (n.2603-2A>G)
c.2279-2A>G (n.2279-2A>G)
11g.118491194A>TCA382834230KMT2Ac.4796-2A>T (n.4796-2A>T)
c.473-2A>T (n.473-2A>T)
c.4697-2A>T (n.4697-2A>T)
c.4583-2A>T (n.4583-2A>T)
c.833-2A>T (n.833-2A>T)
c.2180-2A>T (n.2180-2A>T)
c.4793-2A>T (n.4793-2A>T)
c.2603-2A>T (n.2603-2A>T)
c.2279-2A>T (n.2279-2A>T)
11g.118491195G>ACA382834232KMT2Ac.4796-1G>A (n.4796-1G>A)
c.473-1G>A (n.473-1G>A)
c.4697-1G>A (n.4697-1G>A)
c.4583-1G>A (n.4583-1G>A)
c.833-1G>A (n.833-1G>A)
c.2180-1G>A (n.2180-1G>A)
c.4793-1G>A (n.4793-1G>A)
c.2603-1G>A (n.2603-1G>A)
c.2279-1G>A (n.2279-1G>A)
11g.118491195G>CCA382834233KMT2Ac.4796-1G>C (n.4796-1G>C)
c.473-1G>C (n.473-1G>C)
c.4697-1G>C (n.4697-1G>C)
c.4583-1G>C (n.4583-1G>C)
c.833-1G>C (n.833-1G>C)
c.2180-1G>C (n.2180-1G>C)
c.4793-1G>C (n.4793-1G>C)
c.2603-1G>C (n.2603-1G>C)
c.2279-1G>C (n.2279-1G>C)
11g.118491195G>TCA382834234KMT2Ac.4796-1G>T (n.4796-1G>T)
c.473-1G>T (n.473-1G>T)
c.4697-1G>T (n.4697-1G>T)
c.4583-1G>T (n.4583-1G>T)
c.833-1G>T (n.833-1G>T)
c.2180-1G>T (n.2180-1G>T)
c.4793-1G>T (n.4793-1G>T)
c.2603-1G>T (n.2603-1G>T)
c.2279-1G>T (n.2279-1G>T)
11g.118491196G>ACA382834237KMT2Ac.4796G>A (p.Gly1599Glu)
c.473G>A (p.Gly158Glu)
c.4697G>A (p.Gly1566Glu)
c.4583G>A (p.Gly1528Glu)
c.833G>A (p.Gly278Glu)
c.2180G>A (p.Gly727Glu)
c.4793G>A (p.Gly1598Glu)
c.2603G>A (p.Gly868Glu)
c.2279G>A (p.Gly760Glu)
 COSMIC COSMIC
11g.118491196G>CCA382834236KMT2Ac.4796G>C (p.Gly1599Ala)
c.473G>C (p.Gly158Ala)
c.4697G>C (p.Gly1566Ala)
c.4583G>C (p.Gly1528Ala)
c.833G>C (p.Gly278Ala)
c.2180G>C (p.Gly727Ala)
c.4793G>C (p.Gly1598Ala)
c.2603G>C (p.Gly868Ala)
c.2279G>C (p.Gly760Ala)
11g.118491196G>TCA382834235KMT2Ac.4796G>T (p.Gly1599Val)
c.473G>T (p.Gly158Val)
c.4697G>T (p.Gly1566Val)
c.4583G>T (p.Gly1528Val)
c.833G>T (p.Gly278Val)
c.2180G>T (p.Gly727Val)
c.4793G>T (p.Gly1598Val)
c.2603G>T (p.Gly868Val)
c.2279G>T (p.Gly760Val)
11g.118491197A>CCA477091593KMT2Ac.4797A>C (p.Gly1599=)
c.474A>C (p.Gly158=)
c.4698A>C (p.Gly1566=)
c.4584A>C (p.Gly1528=)
c.834A>C (p.Gly278=)
c.2181A>C (p.Gly727=)
c.4794A>C (p.Gly1598=)
c.2604A>C (p.Gly868=)
c.2280A>C (p.Gly760=)
11g.118491197A>GCA477091595KMT2Ac.4797A>G (p.Gly1599=)
c.474A>G (p.Gly158=)
c.4698A>G (p.Gly1566=)
c.4584A>G (p.Gly1528=)
c.834A>G (p.Gly278=)
c.2181A>G (p.Gly727=)
c.4794A>G (p.Gly1598=)
c.2604A>G (p.Gly868=)
c.2280A>G (p.Gly760=)
11g.118491197A>TCA477091597KMT2Ac.4797A>T (p.Gly1599=)
c.474A>T (p.Gly158=)
c.4698A>T (p.Gly1566=)
c.4584A>T (p.Gly1528=)
c.834A>T (p.Gly278=)
c.2181A>T (p.Gly727=)
c.4794A>T (p.Gly1598=)
c.2604A>T (p.Gly868=)
c.2280A>T (p.Gly760=)
11g.118491198A=CA2003519082KMT2Ac.4798A= (p.Asn1600=)
c.475A= (p.Asn159=)
c.4699A= (p.Asn1567=)
c.4585A= (p.Asn1529=)
c.835A= (p.Asn279=)
c.2182A= (p.Asn728=)
c.4795A= (p.Asn1599=)
c.2605A= (p.Asn869=)
c.2281A= (p.Asn761=)
11g.118491198A>CCA382834238KMT2Ac.4798A>C (p.Asn1600His)
c.475A>C (p.Asn159His)
c.4699A>C (p.Asn1567His)
c.4585A>C (p.Asn1529His)
c.835A>C (p.Asn279His)
c.2182A>C (p.Asn728His)
c.4795A>C (p.Asn1599His)
c.2605A>C (p.Asn869His)
c.2281A>C (p.Asn761His)
11g.118491198A>GCA382834239KMT2Ac.4798A>G (p.Asn1600Asp)
c.475A>G (p.Asn159Asp)
c.4699A>G (p.Asn1567Asp)
c.4585A>G (p.Asn1529Asp)
c.835A>G (p.Asn279Asp)
c.2182A>G (p.Asn728Asp)
c.4795A>G (p.Asn1599Asp)
c.2605A>G (p.Asn869Asp)
c.2281A>G (p.Asn761Asp)
 dbSNP
11g.118491198A>TCA382834240KMT2Ac.4798A>T (p.Asn1600Tyr)
c.475A>T (p.Asn159Tyr)
c.4699A>T (p.Asn1567Tyr)
c.4585A>T (p.Asn1529Tyr)
c.835A>T (p.Asn279Tyr)
c.2182A>T (p.Asn728Tyr)
c.4795A>T (p.Asn1599Tyr)
c.2605A>T (p.Asn869Tyr)
c.2281A>T (p.Asn761Tyr)
11g.118491199A>CCA382834241KMT2Ac.4799A>C (p.Asn1600Thr)
c.476A>C (p.Asn159Thr)
c.4700A>C (p.Asn1567Thr)
c.4586A>C (p.Asn1529Thr)
c.836A>C (p.Asn279Thr)
c.2183A>C (p.Asn728Thr)
c.4796A>C (p.Asn1599Thr)
c.2606A>C (p.Asn869Thr)
c.2282A>C (p.Asn761Thr)
11g.118491199A>GCA382834242KMT2Ac.4799A>G (p.Asn1600Ser)
c.476A>G (p.Asn159Ser)
c.4700A>G (p.Asn1567Ser)
c.4586A>G (p.Asn1529Ser)
c.836A>G (p.Asn279Ser)
c.2183A>G (p.Asn728Ser)
c.4796A>G (p.Asn1599Ser)
c.2606A>G (p.Asn869Ser)
c.2282A>G (p.Asn761Ser)
11g.118491199A>TCA382834243KMT2Ac.4799A>T (p.Asn1600Ile)
c.476A>T (p.Asn159Ile)
c.4700A>T (p.Asn1567Ile)
c.4586A>T (p.Asn1529Ile)
c.836A>T (p.Asn279Ile)
c.2183A>T (p.Asn728Ile)
c.4796A>T (p.Asn1599Ile)
c.2606A>T (p.Asn869Ile)
c.2282A>T (p.Asn761Ile)
 dbSNP
11g.118491200C>ACA382834244KMT2Ac.4800C>A (p.Asn1600Lys)
c.477C>A (p.Asn159Lys)
c.4701C>A (p.Asn1567Lys)
c.4587C>A (p.Asn1529Lys)
c.837C>A (p.Asn279Lys)
c.2184C>A (p.Asn728Lys)
c.4797C>A (p.Asn1599Lys)
c.2607C>A (p.Asn869Lys)
c.2283C>A (p.Asn761Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491200C=CA2003519084KMT2Ac.4800C= (p.Asn1600=)
c.477C= (p.Asn159=)
c.4701C= (p.Asn1567=)
c.4587C= (p.Asn1529=)
c.837C= (p.Asn279=)
c.2184C= (p.Asn728=)
c.4797C= (p.Asn1599=)
c.2607C= (p.Asn869=)
c.2283C= (p.Asn761=)
11g.118491200C>GCA382834245KMT2Ac.4800C>G (p.Asn1600Lys)
c.477C>G (p.Asn159Lys)
c.4701C>G (p.Asn1567Lys)
c.4587C>G (p.Asn1529Lys)
c.837C>G (p.Asn279Lys)
c.2184C>G (p.Asn728Lys)
c.4797C>G (p.Asn1599Lys)
c.2607C>G (p.Asn869Lys)
c.2283C>G (p.Asn761Lys)
11g.118491200C>TCA6303940KMT2Ac.4800C>T (p.Asn1600=)
c.477C>T (p.Asn159=)
c.4701C>T (p.Asn1567=)
c.4587C>T (p.Asn1529=)
c.837C>T (p.Asn279=)
c.2184C>T (p.Asn728=)
c.4797C>T (p.Asn1599=)
c.2607C>T (p.Asn869=)
c.2283C>T (p.Asn761=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118491201T>ACA382834246KMT2Ac.4801T>A (p.Phe1601Ile)
c.478T>A (p.Phe160Ile)
c.4702T>A (p.Phe1568Ile)
c.4588T>A (p.Phe1530Ile)
c.838T>A (p.Phe280Ile)
c.2185T>A (p.Phe729Ile)
c.4798T>A (p.Phe1600Ile)
c.2608T>A (p.Phe870Ile)
c.2284T>A (p.Phe762Ile)
11g.118491201T>CCA382834247KMT2Ac.4801T>C (p.Phe1601Leu)
c.478T>C (p.Phe160Leu)
c.4702T>C (p.Phe1568Leu)
c.4588T>C (p.Phe1530Leu)
c.838T>C (p.Phe280Leu)
c.2185T>C (p.Phe729Leu)
c.4798T>C (p.Phe1600Leu)
c.2608T>C (p.Phe870Leu)
c.2284T>C (p.Phe762Leu)
 gnomAD v4
11g.118491201T>GCA382834248KMT2Ac.4801T>G (p.Phe1601Val)
c.478T>G (p.Phe160Val)
c.4702T>G (p.Phe1568Val)
c.4588T>G (p.Phe1530Val)
c.838T>G (p.Phe280Val)
c.2185T>G (p.Phe729Val)
c.4798T>G (p.Phe1600Val)
c.2608T>G (p.Phe870Val)
c.2284T>G (p.Phe762Val)
 COSMIC COSMIC
11g.118491201T=CA2003519090KMT2Ac.4801T= (p.Phe1601=)
c.478T= (p.Phe160=)
c.4702T= (p.Phe1568=)
c.4588T= (p.Phe1530=)
c.838T= (p.Phe280=)
c.2185T= (p.Phe729=)
c.4798T= (p.Phe1600=)
c.2608T= (p.Phe870=)
c.2284T= (p.Phe762=)
11g.118491202T>ACA382834249KMT2Ac.4802T>A (p.Phe1601Tyr)
c.479T>A (p.Phe160Tyr)
c.4703T>A (p.Phe1568Tyr)
c.4589T>A (p.Phe1530Tyr)
c.839T>A (p.Phe280Tyr)
c.2186T>A (p.Phe729Tyr)
c.4799T>A (p.Phe1600Tyr)
c.2609T>A (p.Phe870Tyr)
c.2285T>A (p.Phe762Tyr)
11g.118491202T>CCA382834250KMT2Ac.4802T>C (p.Phe1601Ser)
c.479T>C (p.Phe160Ser)
c.4703T>C (p.Phe1568Ser)
c.4589T>C (p.Phe1530Ser)
c.839T>C (p.Phe280Ser)
c.2186T>C (p.Phe729Ser)
c.4799T>C (p.Phe1600Ser)
c.2609T>C (p.Phe870Ser)
c.2285T>C (p.Phe762Ser)
11g.118491202T>GCA382834251KMT2Ac.4802T>G (p.Phe1601Cys)
c.479T>G (p.Phe160Cys)
c.4703T>G (p.Phe1568Cys)
c.4589T>G (p.Phe1530Cys)
c.839T>G (p.Phe280Cys)
c.2186T>G (p.Phe729Cys)
c.4799T>G (p.Phe1600Cys)
c.2609T>G (p.Phe870Cys)
c.2285T>G (p.Phe762Cys)
11g.118491205_118491206insAAACTCTCTGCA16619278KMT2Ac.4805_4806insAAACTCTCTG (p.Cys1602Ter)
c.482_483insAAACTCTCTG (p.Cys161Ter)
c.4706_4707insAAACTCTCTG (p.Cys1569Ter)
c.4592_4593insAAACTCTCTG (p.Cys1531Ter)
c.842_843insAAACTCTCTG (p.Cys281Ter)
c.2189_2190insAAACTCTCTG (p.Cys730Ter)
c.4802_4803insAAACTCTCTG (p.Cys1601Ter)
c.2612_2613insAAACTCTCTG (p.Cys871Ter)
c.2288_2289insAAACTCTCTG (p.Cys763Ter)
 ClinVar dbSNP
11g.118491203C>ACA382834252KMT2Ac.4803C>A (p.Phe1601Leu)
c.480C>A (p.Phe160Leu)
c.4704C>A (p.Phe1568Leu)
c.4590C>A (p.Phe1530Leu)
c.840C>A (p.Phe280Leu)
c.2187C>A (p.Phe729Leu)
c.4800C>A (p.Phe1600Leu)
c.2610C>A (p.Phe870Leu)
c.2286C>A (p.Phe762Leu)
11g.118491203C>GCA382834253KMT2Ac.4803C>G (p.Phe1601Leu)
c.480C>G (p.Phe160Leu)
c.4704C>G (p.Phe1568Leu)
c.4590C>G (p.Phe1530Leu)
c.840C>G (p.Phe280Leu)
c.2187C>G (p.Phe729Leu)
c.4800C>G (p.Phe1600Leu)
c.2610C>G (p.Phe870Leu)
c.2286C>G (p.Phe762Leu)
11g.118491203C>TCA477091613KMT2Ac.4803C>T (p.Phe1601=)
c.480C>T (p.Phe160=)
c.4704C>T (p.Phe1568=)
c.4590C>T (p.Phe1530=)
c.840C>T (p.Phe280=)
c.2187C>T (p.Phe729=)
c.4800C>T (p.Phe1600=)
c.2610C>T (p.Phe870=)
c.2286C>T (p.Phe762=)
 dbSNP gnomAD v4
11g.118491204T>ACA382834254KMT2Ac.4804T>A (p.Cys1602Ser)
c.481T>A (p.Cys161Ser)
c.4705T>A (p.Cys1569Ser)
c.4591T>A (p.Cys1531Ser)
c.841T>A (p.Cys281Ser)
c.2188T>A (p.Cys730Ser)
c.4801T>A (p.Cys1601Ser)
c.2611T>A (p.Cys871Ser)
c.2287T>A (p.Cys763Ser)
11g.118491204T>CCA382834255KMT2Ac.4804T>C (p.Cys1602Arg)
c.481T>C (p.Cys161Arg)
c.4705T>C (p.Cys1569Arg)
c.4591T>C (p.Cys1531Arg)
c.841T>C (p.Cys281Arg)
c.2188T>C (p.Cys730Arg)
c.4801T>C (p.Cys1601Arg)
c.2611T>C (p.Cys871Arg)
c.2287T>C (p.Cys763Arg)
 gnomAD v4
11g.118491204T>GCA382834256KMT2Ac.4804T>G (p.Cys1602Gly)
c.481T>G (p.Cys161Gly)
c.4705T>G (p.Cys1569Gly)
c.4591T>G (p.Cys1531Gly)
c.841T>G (p.Cys281Gly)
c.2188T>G (p.Cys730Gly)
c.4801T>G (p.Cys1601Gly)
c.2611T>G (p.Cys871Gly)
c.2287T>G (p.Cys763Gly)
11g.118491205G>ACA382834259KMT2Ac.4805G>A (p.Cys1602Tyr)
c.482G>A (p.Cys161Tyr)
c.4706G>A (p.Cys1569Tyr)
c.4592G>A (p.Cys1531Tyr)
c.842G>A (p.Cys281Tyr)
c.2189G>A (p.Cys730Tyr)
c.4802G>A (p.Cys1601Tyr)
c.2612G>A (p.Cys871Tyr)
c.2288G>A (p.Cys763Tyr)
11g.118491205G>CCA382834258KMT2Ac.4805G>C (p.Cys1602Ser)
c.482G>C (p.Cys161Ser)
c.4706G>C (p.Cys1569Ser)
c.4592G>C (p.Cys1531Ser)
c.842G>C (p.Cys281Ser)
c.2189G>C (p.Cys730Ser)
c.4802G>C (p.Cys1601Ser)
c.2612G>C (p.Cys871Ser)
c.2288G>C (p.Cys763Ser)
 dbSNP
11g.118491205G>TCA382834257KMT2Ac.4805G>T (p.Cys1602Phe)
c.482G>T (p.Cys161Phe)
c.4706G>T (p.Cys1569Phe)
c.4592G>T (p.Cys1531Phe)
c.842G>T (p.Cys281Phe)
c.2189G>T (p.Cys730Phe)
c.4802G>T (p.Cys1601Phe)
c.2612G>T (p.Cys871Phe)
c.2288G>T (p.Cys763Phe)
11g.118491206C>ACA382834261KMT2Ac.4806C>A (p.Cys1602Ter)
c.483C>A (p.Cys161Ter)
c.4707C>A (p.Cys1569Ter)
c.4593C>A (p.Cys1531Ter)
c.843C>A (p.Cys281Ter)
c.2190C>A (p.Cys730Ter)
c.4803C>A (p.Cys1601Ter)
c.2613C>A (p.Cys871Ter)
c.2289C>A (p.Cys763Ter)
11g.118491206C>GCA382834260KMT2Ac.4806C>G (p.Cys1602Trp)
c.483C>G (p.Cys161Trp)
c.4707C>G (p.Cys1569Trp)
c.4593C>G (p.Cys1531Trp)
c.843C>G (p.Cys281Trp)
c.2190C>G (p.Cys730Trp)
c.4803C>G (p.Cys1601Trp)
c.2613C>G (p.Cys871Trp)
c.2289C>G (p.Cys763Trp)
11g.118491206C>TCA477091614KMT2Ac.4806C>T (p.Cys1602=)
c.483C>T (p.Cys161=)
c.4707C>T (p.Cys1569=)
c.4593C>T (p.Cys1531=)
c.843C>T (p.Cys281=)
c.2190C>T (p.Cys730=)
c.4803C>T (p.Cys1601=)
c.2613C>T (p.Cys871=)
c.2289C>T (p.Cys763=)
11g.118491207C>ACA382834264KMT2Ac.4807C>A (p.Pro1603Thr)
c.484C>A (p.Pro162Thr)
c.4708C>A (p.Pro1570Thr)
c.4594C>A (p.Pro1532Thr)
c.844C>A (p.Pro282Thr)
c.2191C>A (p.Pro731Thr)
c.4804C>A (p.Pro1602Thr)
c.2614C>A (p.Pro872Thr)
c.2290C>A (p.Pro764Thr)
11g.118491207C>GCA382834262KMT2Ac.4807C>G (p.Pro1603Ala)
c.484C>G (p.Pro162Ala)
c.4708C>G (p.Pro1570Ala)
c.4594C>G (p.Pro1532Ala)
c.844C>G (p.Pro282Ala)
c.2191C>G (p.Pro731Ala)
c.4804C>G (p.Pro1602Ala)
c.2614C>G (p.Pro872Ala)
c.2290C>G (p.Pro764Ala)
11g.118491207C>TCA382834263KMT2Ac.4807C>T (p.Pro1603Ser)
c.484C>T (p.Pro162Ser)
c.4708C>T (p.Pro1570Ser)
c.4594C>T (p.Pro1532Ser)
c.844C>T (p.Pro282Ser)
c.2191C>T (p.Pro731Ser)
c.4804C>T (p.Pro1602Ser)
c.2614C>T (p.Pro872Ser)
c.2290C>T (p.Pro764Ser)
11g.118491208C>ACA382834265KMT2Ac.4808C>A (p.Pro1603His)
c.485C>A (p.Pro162His)
c.4709C>A (p.Pro1570His)
c.4595C>A (p.Pro1532His)
c.845C>A (p.Pro282His)
c.2192C>A (p.Pro731His)
c.4805C>A (p.Pro1602His)
c.2615C>A (p.Pro872His)
c.2291C>A (p.Pro764His)
 COSMIC COSMIC
11g.118491208C>GCA382834266KMT2Ac.4808C>G (p.Pro1603Arg)
c.485C>G (p.Pro162Arg)
c.4709C>G (p.Pro1570Arg)
c.4595C>G (p.Pro1532Arg)
c.845C>G (p.Pro282Arg)
c.2192C>G (p.Pro731Arg)
c.4805C>G (p.Pro1602Arg)
c.2615C>G (p.Pro872Arg)
c.2291C>G (p.Pro764Arg)
11g.118491208C>TCA382834267KMT2Ac.4808C>T (p.Pro1603Leu)
c.485C>T (p.Pro162Leu)
c.4709C>T (p.Pro1570Leu)
c.4595C>T (p.Pro1532Leu)
c.845C>T (p.Pro282Leu)
c.2192C>T (p.Pro731Leu)
c.4805C>T (p.Pro1602Leu)
c.2615C>T (p.Pro872Leu)
c.2291C>T (p.Pro764Leu)
11g.118491209T>ACA477091615KMT2Ac.4809T>A (p.Pro1603=)
c.486T>A (p.Pro162=)
c.4710T>A (p.Pro1570=)
c.4596T>A (p.Pro1532=)
c.846T>A (p.Pro282=)
c.2193T>A (p.Pro731=)
c.4806T>A (p.Pro1602=)
c.2616T>A (p.Pro872=)
c.2292T>A (p.Pro764=)
11g.118491209T>CCA477091616KMT2Ac.4809T>C (p.Pro1603=)
c.486T>C (p.Pro162=)
c.4710T>C (p.Pro1570=)
c.4596T>C (p.Pro1532=)
c.846T>C (p.Pro282=)
c.2193T>C (p.Pro731=)
c.4806T>C (p.Pro1602=)
c.2616T>C (p.Pro872=)
c.2292T>C (p.Pro764=)
 dbSNP gnomAD v2 gnomAD v4
11g.118491209T>GCA477091617KMT2Ac.4809T>G (p.Pro1603=)
c.486T>G (p.Pro162=)
c.4710T>G (p.Pro1570=)
c.4596T>G (p.Pro1532=)
c.846T>G (p.Pro282=)
c.2193T>G (p.Pro731=)
c.4806T>G (p.Pro1602=)
c.2616T>G (p.Pro872=)
c.2292T>G (p.Pro764=)
11g.118491209T=CA2003519099KMT2Ac.4809T= (p.Pro1603=)
c.486T= (p.Pro162=)
c.4710T= (p.Pro1570=)
c.4596T= (p.Pro1532=)
c.846T= (p.Pro282=)
c.2193T= (p.Pro731=)
c.4806T= (p.Pro1602=)
c.2616T= (p.Pro872=)
c.2292T= (p.Pro764=)
11g.118491210C>ACA382834270KMT2Ac.4810C>A (p.Leu1604Ile)
c.487C>A (p.Leu163Ile)
c.4711C>A (p.Leu1571Ile)
c.4597C>A (p.Leu1533Ile)
c.847C>A (p.Leu283Ile)
c.2194C>A (p.Leu732Ile)
c.4807C>A (p.Leu1603Ile)
c.2617C>A (p.Leu873Ile)
c.2293C>A (p.Leu765Ile)
11g.118491210C=CA2003519102KMT2Ac.4810C= (p.Leu1604=)
c.487C= (p.Leu163=)
c.4711C= (p.Leu1571=)
c.4597C= (p.Leu1533=)
c.847C= (p.Leu283=)
c.2194C= (p.Leu732=)
c.4807C= (p.Leu1603=)
c.2617C= (p.Leu873=)
c.2293C= (p.Leu765=)
11g.118491210C>GCA382834269KMT2Ac.4810C>G (p.Leu1604Val)
c.487C>G (p.Leu163Val)
c.4711C>G (p.Leu1571Val)
c.4597C>G (p.Leu1533Val)
c.847C>G (p.Leu283Val)
c.2194C>G (p.Leu732Val)
c.4807C>G (p.Leu1603Val)
c.2617C>G (p.Leu873Val)
c.2293C>G (p.Leu765Val)
11g.118491210C>TCA382834268KMT2Ac.4810C>T (p.Leu1604Phe)
c.487C>T (p.Leu163Phe)
c.4711C>T (p.Leu1571Phe)
c.4597C>T (p.Leu1533Phe)
c.847C>T (p.Leu283Phe)
c.2194C>T (p.Leu732Phe)
c.4807C>T (p.Leu1603Phe)
c.2617C>T (p.Leu873Phe)
c.2293C>T (p.Leu765Phe)
 dbSNP
11g.118491211T>ACA382834271KMT2Ac.4811T>A (p.Leu1604His)
c.488T>A (p.Leu163His)
c.4712T>A (p.Leu1571His)
c.4598T>A (p.Leu1533His)
c.848T>A (p.Leu283His)
c.2195T>A (p.Leu732His)
c.4808T>A (p.Leu1603His)
c.2618T>A (p.Leu873His)
c.2294T>A (p.Leu765His)
11g.118491211T>CCA382834272KMT2Ac.4811T>C (p.Leu1604Pro)
c.488T>C (p.Leu163Pro)
c.4712T>C (p.Leu1571Pro)
c.4598T>C (p.Leu1533Pro)
c.848T>C (p.Leu283Pro)
c.2195T>C (p.Leu732Pro)
c.4808T>C (p.Leu1603Pro)
c.2618T>C (p.Leu873Pro)
c.2294T>C (p.Leu765Pro)
11g.118491211T>GCA382834273KMT2Ac.4811T>G (p.Leu1604Arg)
c.488T>G (p.Leu163Arg)
c.4712T>G (p.Leu1571Arg)
c.4598T>G (p.Leu1533Arg)
c.848T>G (p.Leu283Arg)
c.2195T>G (p.Leu732Arg)
c.4808T>G (p.Leu1603Arg)
c.2618T>G (p.Leu873Arg)
c.2294T>G (p.Leu765Arg)
11g.118491212C>ACA477091618KMT2Ac.4812C>A (p.Leu1604=)
c.489C>A (p.Leu163=)
c.4713C>A (p.Leu1571=)
c.4599C>A (p.Leu1533=)
c.849C>A (p.Leu283=)
c.2196C>A (p.Leu732=)
c.4809C>A (p.Leu1603=)
c.2619C>A (p.Leu873=)
c.2295C>A (p.Leu765=)
11g.118491212C>GCA477091619KMT2Ac.4812C>G (p.Leu1604=)
c.489C>G (p.Leu163=)
c.4713C>G (p.Leu1571=)
c.4599C>G (p.Leu1533=)
c.849C>G (p.Leu283=)
c.2196C>G (p.Leu732=)
c.4809C>G (p.Leu1603=)
c.2619C>G (p.Leu873=)
c.2295C>G (p.Leu765=)
11g.118491212C>TCA477091620KMT2Ac.4812C>T (p.Leu1604=)
c.489C>T (p.Leu163=)
c.4713C>T (p.Leu1571=)
c.4599C>T (p.Leu1533=)
c.849C>T (p.Leu283=)
c.2196C>T (p.Leu732=)
c.4809C>T (p.Leu1603=)
c.2619C>T (p.Leu873=)
c.2295C>T (p.Leu765=)
11g.118491213T>ACA382834274KMT2Ac.4813T>A (p.Cys1605Ser)
c.490T>A (p.Cys164Ser)
c.4714T>A (p.Cys1572Ser)
c.4600T>A (p.Cys1534Ser)
c.850T>A (p.Cys284Ser)
c.2197T>A (p.Cys733Ser)
c.4810T>A (p.Cys1604Ser)
c.2620T>A (p.Cys874Ser)
c.2296T>A (p.Cys766Ser)
11g.118491213T>CCA382834275KMT2Ac.4813T>C (p.Cys1605Arg)
c.490T>C (p.Cys164Arg)
c.4714T>C (p.Cys1572Arg)
c.4600T>C (p.Cys1534Arg)
c.850T>C (p.Cys284Arg)
c.2197T>C (p.Cys733Arg)
c.4810T>C (p.Cys1604Arg)
c.2620T>C (p.Cys874Arg)
c.2296T>C (p.Cys766Arg)
11g.118491213T>GCA382834276KMT2Ac.4813T>G (p.Cys1605Gly)
c.490T>G (p.Cys164Gly)
c.4714T>G (p.Cys1572Gly)
c.4600T>G (p.Cys1534Gly)
c.850T>G (p.Cys284Gly)
c.2197T>G (p.Cys733Gly)
c.4810T>G (p.Cys1604Gly)
c.2620T>G (p.Cys874Gly)
c.2296T>G (p.Cys766Gly)
11g.118491214G>ACA382834277KMT2Ac.4814G>A (p.Cys1605Tyr)
c.491G>A (p.Cys164Tyr)
c.4715G>A (p.Cys1572Tyr)
c.4601G>A (p.Cys1534Tyr)
c.851G>A (p.Cys284Tyr)
c.2198G>A (p.Cys733Tyr)
c.4811G>A (p.Cys1604Tyr)
c.2621G>A (p.Cys874Tyr)
c.2297G>A (p.Cys766Tyr)
 COSMIC COSMIC
11g.118491214G>CCA382834279KMT2Ac.4814G>C (p.Cys1605Ser)
c.491G>C (p.Cys164Ser)
c.4715G>C (p.Cys1572Ser)
c.4601G>C (p.Cys1534Ser)
c.851G>C (p.Cys284Ser)
c.2198G>C (p.Cys733Ser)
c.4811G>C (p.Cys1604Ser)
c.2621G>C (p.Cys874Ser)
c.2297G>C (p.Cys766Ser)
11g.118491214G>TCA382834278KMT2Ac.4814G>T (p.Cys1605Phe)
c.491G>T (p.Cys164Phe)
c.4715G>T (p.Cys1572Phe)
c.4601G>T (p.Cys1534Phe)
c.851G>T (p.Cys284Phe)
c.2198G>T (p.Cys733Phe)
c.4811G>T (p.Cys1604Phe)
c.2621G>T (p.Cys874Phe)
c.2297G>T (p.Cys766Phe)
11g.118491215T>ACA382834280KMT2Ac.4815T>A (p.Cys1605Ter)
c.492T>A (p.Cys164Ter)
c.4716T>A (p.Cys1572Ter)
c.4602T>A (p.Cys1534Ter)
c.852T>A (p.Cys284Ter)
c.2199T>A (p.Cys733Ter)
c.4812T>A (p.Cys1604Ter)
c.2622T>A (p.Cys874Ter)
c.2298T>A (p.Cys766Ter)
11g.118491215T>CCA477091621KMT2Ac.4815T>C (p.Cys1605=)
c.492T>C (p.Cys164=)
c.4716T>C (p.Cys1572=)
c.4602T>C (p.Cys1534=)
c.852T>C (p.Cys284=)
c.2199T>C (p.Cys733=)
c.4812T>C (p.Cys1604=)
c.2622T>C (p.Cys874=)
c.2298T>C (p.Cys766=)
 gnomAD v4
11g.118491215T>GCA382834281KMT2Ac.4815T>G (p.Cys1605Trp)
c.492T>G (p.Cys164Trp)
c.4716T>G (p.Cys1572Trp)
c.4602T>G (p.Cys1534Trp)
c.852T>G (p.Cys284Trp)
c.2199T>G (p.Cys733Trp)
c.4812T>G (p.Cys1604Trp)
c.2622T>G (p.Cys874Trp)
c.2298T>G (p.Cys766Trp)
11g.118491216G>ACA382834282KMT2Ac.4816G>A (p.Asp1606Asn)
c.493G>A (p.Asp165Asn)
c.4717G>A (p.Asp1573Asn)
c.4603G>A (p.Asp1535Asn)
c.853G>A (p.Asp285Asn)
c.2200G>A (p.Asp734Asn)
c.4813G>A (p.Asp1605Asn)
c.2623G>A (p.Asp875Asn)
c.2299G>A (p.Asp767Asn)
 dbSNP
11g.118491216G>CCA382834283KMT2Ac.4816G>C (p.Asp1606His)
c.493G>C (p.Asp165His)
c.4717G>C (p.Asp1573His)
c.4603G>C (p.Asp1535His)
c.853G>C (p.Asp285His)
c.2200G>C (p.Asp734His)
c.4813G>C (p.Asp1605His)
c.2623G>C (p.Asp875His)
c.2299G>C (p.Asp767His)
11g.118491216G>TCA382834284KMT2Ac.4816G>T (p.Asp1606Tyr)
c.493G>T (p.Asp165Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4603G>T (p.Asp1535Tyr)
c.853G>T (p.Asp285Tyr)
c.2200G>T (p.Asp734Tyr)
c.4813G>T (p.Asp1605Tyr)
c.2623G>T (p.Asp875Tyr)
c.2299G>T (p.Asp767Tyr)
11g.118491217A>CCA382834285KMT2Ac.4817A>C (p.Asp1606Ala)
c.494A>C (p.Asp165Ala)
c.4718A>C (p.Asp1573Ala)
c.4604A>C (p.Asp1535Ala)
c.854A>C (p.Asp285Ala)
c.2201A>C (p.Asp734Ala)
c.4814A>C (p.Asp1605Ala)
c.2624A>C (p.Asp875Ala)
c.2300A>C (p.Asp767Ala)
11g.118491217A>GCA382834286KMT2Ac.4817A>G (p.Asp1606Gly)
c.494A>G (p.Asp165Gly)
c.4718A>G (p.Asp1573Gly)
c.4604A>G (p.Asp1535Gly)
c.854A>G (p.Asp285Gly)
c.2201A>G (p.Asp734Gly)
c.4814A>G (p.Asp1605Gly)
c.2624A>G (p.Asp875Gly)
c.2300A>G (p.Asp767Gly)
11g.118491217A>TCA382834287KMT2Ac.4817A>T (p.Asp1606Val)
c.494A>T (p.Asp165Val)
c.4718A>T (p.Asp1573Val)
c.4604A>T (p.Asp1535Val)
c.854A>T (p.Asp285Val)
c.2201A>T (p.Asp734Val)
c.4814A>T (p.Asp1605Val)
c.2624A>T (p.Asp875Val)
c.2300A>T (p.Asp767Val)
11g.118491218C>ACA382834288KMT2Ac.4818C>A (p.Asp1606Glu)
c.495C>A (p.Asp165Glu)
c.4719C>A (p.Asp1573Glu)
c.4605C>A (p.Asp1535Glu)
c.855C>A (p.Asp285Glu)
c.2202C>A (p.Asp734Glu)
c.4815C>A (p.Asp1605Glu)
c.2625C>A (p.Asp875Glu)
c.2301C>A (p.Asp767Glu)
11g.118491218C>GCA382834289KMT2Ac.4818C>G (p.Asp1606Glu)
c.495C>G (p.Asp165Glu)
c.4719C>G (p.Asp1573Glu)
c.4605C>G (p.Asp1535Glu)
c.855C>G (p.Asp285Glu)
c.2202C>G (p.Asp734Glu)
c.4815C>G (p.Asp1605Glu)
c.2625C>G (p.Asp875Glu)
c.2301C>G (p.Asp767Glu)
11g.118491218C>TCA477091623KMT2Ac.4818C>T (p.Asp1606=)
c.495C>T (p.Asp165=)
c.4719C>T (p.Asp1573=)
c.4605C>T (p.Asp1535=)
c.855C>T (p.Asp285=)
c.2202C>T (p.Asp734=)
c.4815C>T (p.Asp1605=)
c.2625C>T (p.Asp875=)
c.2301C>T (p.Asp767=)
 gnomAD v4
11g.118491219A>CCA382834292KMT2Ac.4819A>C (p.Lys1607Gln)
c.496A>C (p.Lys166Gln)
c.4720A>C (p.Lys1574Gln)
c.4606A>C (p.Lys1536Gln)
c.856A>C (p.Lys286Gln)
c.2203A>C (p.Lys735Gln)
c.4816A>C (p.Lys1606Gln)
c.2626A>C (p.Lys876Gln)
c.2302A>C (p.Lys768Gln)
11g.118491219A>GCA382834291KMT2Ac.4819A>G (p.Lys1607Glu)
c.496A>G (p.Lys166Glu)
c.4720A>G (p.Lys1574Glu)
c.4606A>G (p.Lys1536Glu)
c.856A>G (p.Lys286Glu)
c.2203A>G (p.Lys735Glu)
c.4816A>G (p.Lys1606Glu)
c.2626A>G (p.Lys876Glu)
c.2302A>G (p.Lys768Glu)
 gnomAD v4
11g.118491219A>TCA382834290KMT2Ac.4819A>T (p.Lys1607Ter)
c.496A>T (p.Lys166Ter)
c.4720A>T (p.Lys1574Ter)
c.4606A>T (p.Lys1536Ter)
c.856A>T (p.Lys286Ter)
c.2203A>T (p.Lys735Ter)
c.4816A>T (p.Lys1606Ter)
c.2626A>T (p.Lys876Ter)
c.2302A>T (p.Lys768Ter)
11g.118491220A=CA2003519106KMT2Ac.4820A= (p.Lys1607=)
c.497A= (p.Lys166=)
c.4721A= (p.Lys1574=)
c.4607A= (p.Lys1536=)
c.857A= (p.Lys286=)
c.2204A= (p.Lys735=)
c.4817A= (p.Lys1606=)
c.2627A= (p.Lys876=)
c.2303A= (p.Lys768=)
11g.118491220A>CCA382834293KMT2Ac.4820A>C (p.Lys1607Thr)
c.497A>C (p.Lys166Thr)
c.4721A>C (p.Lys1574Thr)
c.4607A>C (p.Lys1536Thr)
c.857A>C (p.Lys286Thr)
c.2204A>C (p.Lys735Thr)
c.4817A>C (p.Lys1606Thr)
c.2627A>C (p.Lys876Thr)
c.2303A>C (p.Lys768Thr)
11g.118491220A>GCA382834294KMT2Ac.4820A>G (p.Lys1607Arg)
c.497A>G (p.Lys166Arg)
c.4721A>G (p.Lys1574Arg)
c.4607A>G (p.Lys1536Arg)
c.857A>G (p.Lys286Arg)
c.2204A>G (p.Lys735Arg)
c.4817A>G (p.Lys1606Arg)
c.2627A>G (p.Lys876Arg)
c.2303A>G (p.Lys768Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.118491220A>TCA382834295KMT2Ac.4820A>T (p.Lys1607Ile)
c.497A>T (p.Lys166Ile)
c.4721A>T (p.Lys1574Ile)
c.4607A>T (p.Lys1536Ile)
c.857A>T (p.Lys286Ile)
c.2204A>T (p.Lys735Ile)
c.4817A>T (p.Lys1606Ile)
c.2627A>T (p.Lys876Ile)
c.2303A>T (p.Lys768Ile)
11g.118491221A>CCA382834296KMT2Ac.4821A>C (p.Lys1607Asn)
c.498A>C (p.Lys166Asn)
c.4722A>C (p.Lys1574Asn)
c.4608A>C (p.Lys1536Asn)
c.858A>C (p.Lys286Asn)
c.2205A>C (p.Lys735Asn)
c.4818A>C (p.Lys1606Asn)
c.2628A>C (p.Lys876Asn)
c.2304A>C (p.Lys768Asn)
11g.118491221A>GCA477091624KMT2Ac.4821A>G (p.Lys1607=)
c.498A>G (p.Lys166=)
c.4722A>G (p.Lys1574=)
c.4608A>G (p.Lys1536=)
c.858A>G (p.Lys286=)
c.2205A>G (p.Lys735=)
c.4818A>G (p.Lys1606=)
c.2628A>G (p.Lys876=)
c.2304A>G (p.Lys768=)
 gnomAD v4
11g.118491221A>TCA382834297KMT2Ac.4821A>T (p.Lys1607Asn)
c.498A>T (p.Lys166Asn)
c.4722A>T (p.Lys1574Asn)
c.4608A>T (p.Lys1536Asn)
c.858A>T (p.Lys286Asn)
c.2205A>T (p.Lys735Asn)
c.4818A>T (p.Lys1606Asn)
c.2628A>T (p.Lys876Asn)
c.2304A>T (p.Lys768Asn)
11g.118491222T>ACA382834298KMT2Ac.4822T>A (p.Cys1608Ser)
c.499T>A (p.Cys167Ser)
c.4723T>A (p.Cys1575Ser)
c.4609T>A (p.Cys1537Ser)
c.859T>A (p.Cys287Ser)
c.2206T>A (p.Cys736Ser)
c.4819T>A (p.Cys1607Ser)
c.2629T>A (p.Cys877Ser)
c.2305T>A (p.Cys769Ser)
11g.118491222T>CCA382834299KMT2Ac.4822T>C (p.Cys1608Arg)
c.499T>C (p.Cys167Arg)
c.4723T>C (p.Cys1575Arg)
c.4609T>C (p.Cys1537Arg)
c.859T>C (p.Cys287Arg)
c.2206T>C (p.Cys736Arg)
c.4819T>C (p.Cys1607Arg)
c.2629T>C (p.Cys877Arg)
c.2305T>C (p.Cys769Arg)
11g.118491222T>GCA382834300KMT2Ac.4822T>G (p.Cys1608Gly)
c.499T>G (p.Cys167Gly)
c.4723T>G (p.Cys1575Gly)
c.4609T>G (p.Cys1537Gly)
c.859T>G (p.Cys287Gly)
c.2206T>G (p.Cys736Gly)
c.4819T>G (p.Cys1607Gly)
c.2629T>G (p.Cys877Gly)
c.2305T>G (p.Cys769Gly)
11g.118491223G>ACA382834301KMT2Ac.4823G>A (p.Cys1608Tyr)
c.500G>A (p.Cys167Tyr)
c.4724G>A (p.Cys1575Tyr)
c.4610G>A (p.Cys1537Tyr)
c.860G>A (p.Cys287Tyr)
c.2207G>A (p.Cys736Tyr)
c.4820G>A (p.Cys1607Tyr)
c.2630G>A (p.Cys877Tyr)
c.2306G>A (p.Cys769Tyr)
11g.118491223G>CCA382834302KMT2Ac.4823G>C (p.Cys1608Ser)
c.500G>C (p.Cys167Ser)
c.4724G>C (p.Cys1575Ser)
c.4610G>C (p.Cys1537Ser)
c.860G>C (p.Cys287Ser)
c.2207G>C (p.Cys736Ser)
c.4820G>C (p.Cys1607Ser)
c.2630G>C (p.Cys877Ser)
c.2306G>C (p.Cys769Ser)
11g.118491223G>TCA382834303KMT2Ac.4823G>T (p.Cys1608Phe)
c.500G>T (p.Cys167Phe)
c.4724G>T (p.Cys1575Phe)
c.4610G>T (p.Cys1537Phe)
c.860G>T (p.Cys287Phe)
c.2207G>T (p.Cys736Phe)
c.4820G>T (p.Cys1607Phe)
c.2630G>T (p.Cys877Phe)
c.2306G>T (p.Cys769Phe)
11g.118491224T>ACA382834304KMT2Ac.4824T>A (p.Cys1608Ter)
c.501T>A (p.Cys167Ter)
c.4725T>A (p.Cys1575Ter)
c.4611T>A (p.Cys1537Ter)
c.861T>A (p.Cys287Ter)
c.2208T>A (p.Cys736Ter)
c.4821T>A (p.Cys1607Ter)
c.2631T>A (p.Cys877Ter)
c.2307T>A (p.Cys769Ter)
11g.118491224T>CCA477091625KMT2Ac.4824T>C (p.Cys1608=)
c.501T>C (p.Cys167=)
c.4725T>C (p.Cys1575=)
c.4611T>C (p.Cys1537=)
c.861T>C (p.Cys287=)
c.2208T>C (p.Cys736=)
c.4821T>C (p.Cys1607=)
c.2631T>C (p.Cys877=)
c.2307T>C (p.Cys769=)
11g.118491224T>GCA382834305KMT2Ac.4824T>G (p.Cys1608Trp)
c.501T>G (p.Cys167Trp)
c.4725T>G (p.Cys1575Trp)
c.4611T>G (p.Cys1537Trp)
c.861T>G (p.Cys287Trp)
c.2208T>G (p.Cys736Trp)
c.4821T>G (p.Cys1607Trp)
c.2631T>G (p.Cys877Trp)
c.2307T>G (p.Cys769Trp)
11g.118491225T>ACA382834308KMT2Ac.4825T>A (p.Tyr1609Asn)
c.502T>A (p.Tyr168Asn)
c.4726T>A (p.Tyr1576Asn)
c.4612T>A (p.Tyr1538Asn)
c.862T>A (p.Tyr288Asn)
c.2209T>A (p.Tyr737Asn)
c.4822T>A (p.Tyr1608Asn)
c.2632T>A (p.Tyr878Asn)
c.2308T>A (p.Tyr770Asn)
11g.118491225T>CCA382834306KMT2Ac.4825T>C (p.Tyr1609His)
c.502T>C (p.Tyr168His)
c.4726T>C (p.Tyr1576His)
c.4612T>C (p.Tyr1538His)
c.862T>C (p.Tyr288His)
c.2209T>C (p.Tyr737His)
c.4822T>C (p.Tyr1608His)
c.2632T>C (p.Tyr878His)
c.2308T>C (p.Tyr770His)
11g.118491225T>GCA382834307KMT2Ac.4825T>G (p.Tyr1609Asp)
c.502T>G (p.Tyr168Asp)
c.4726T>G (p.Tyr1576Asp)
c.4612T>G (p.Tyr1538Asp)
c.862T>G (p.Tyr288Asp)
c.2209T>G (p.Tyr737Asp)
c.4822T>G (p.Tyr1608Asp)
c.2632T>G (p.Tyr878Asp)
c.2308T>G (p.Tyr770Asp)
11g.118491225_118491228delinsTATGCA2003519110KMT2Ac.4825_4828delinsTATG (p.Tyr1609=)
c.502_505delinsTATG (p.Tyr168=)
c.4726_4729delinsTATG (p.Tyr1576=)
c.4612_4615delinsTATG (p.Tyr1538=)
c.862_865delinsTATG (p.Tyr288=)
c.2209_2212delinsTATG (p.Tyr737=)
c.4822_4825delinsTATG (p.Tyr1608=)
c.2632_2635delinsTATG (p.Tyr878=)
c.2308_2311delinsTATG (p.Tyr770=)
11g.118491226A>CCA382834309KMT2Ac.4826A>C (p.Tyr1609Ser)
c.503A>C (p.Tyr168Ser)
c.4727A>C (p.Tyr1576Ser)
c.4613A>C (p.Tyr1538Ser)
c.863A>C (p.Tyr288Ser)
c.2210A>C (p.Tyr737Ser)
c.4823A>C (p.Tyr1608Ser)
c.2633A>C (p.Tyr878Ser)
c.2309A>C (p.Tyr770Ser)
11g.118491226A>GCA382834310KMT2Ac.4826A>G (p.Tyr1609Cys)
c.503A>G (p.Tyr168Cys)
c.4727A>G (p.Tyr1576Cys)
c.4613A>G (p.Tyr1538Cys)
c.863A>G (p.Tyr288Cys)
c.2210A>G (p.Tyr737Cys)
c.4823A>G (p.Tyr1608Cys)
c.2633A>G (p.Tyr878Cys)
c.2309A>G (p.Tyr770Cys)
 gnomAD v4
11g.118491226A>TCA382834311KMT2Ac.4826A>T (p.Tyr1609Phe)
c.503A>T (p.Tyr168Phe)
c.4727A>T (p.Tyr1576Phe)
c.4613A>T (p.Tyr1538Phe)
c.863A>T (p.Tyr288Phe)
c.2210A>T (p.Tyr737Phe)
c.4823A>T (p.Tyr1608Phe)
c.2633A>T (p.Tyr878Phe)
c.2309A>T (p.Tyr770Phe)
11g.118491226dupCA2695215651KMT2Ac.4826dup (p.Tyr1609Ter)
c.503dup (p.Tyr168Ter)
c.4727dup (p.Tyr1576Ter)
c.4613dup (p.Tyr1538Ter)
c.863dup (p.Tyr288Ter)
c.2210dup (p.Tyr737Ter)
c.4823dup (p.Tyr1608Ter)
c.2633dup (p.Tyr878Ter)
c.2309dup (p.Tyr770Ter)
11g.118491236_118491238dupCA915940455KMT2Ac.4836_4838dup (p.Asp1613_Tyr1614insAsp)
c.513_515dup (p.Asp172_Tyr173insAsp)
c.4737_4739dup (p.Asp1580_Tyr1581insAsp)
c.4623_4625dup (p.Asp1542_Tyr1543insAsp)
c.873_875dup (p.Asp292_Tyr293insAsp)
c.2220_2222dup (p.Asp741_Tyr742insAsp)
c.4833_4835dup (p.Asp1612_Tyr1613insAsp)
c.2643_2645dup (p.Asp882_Tyr883insAsp)
c.2319_2321dup (p.Asp774_Tyr775insAsp)
11g.118491236_118491238delCA602140730KMT2Ac.4836_4838del (p.Asp1613del)
c.513_515del (p.Asp172del)
c.4737_4739del (p.Asp1580del)
c.4623_4625del (p.Asp1542del)
c.873_875del (p.Asp292del)
c.2220_2222del (p.Asp741del)
c.4833_4835del (p.Asp1612del)
c.2643_2645del (p.Asp882del)
c.2319_2321del (p.Asp774del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491233_118491238delCA2724977009KMT2Ac.4833_4838del (p.Asp1612_Asp1613del)
c.510_515del (p.Asp171_Asp172del)
c.4734_4739del (p.Asp1579_Asp1580del)
c.4620_4625del (p.Asp1541_Asp1542del)
c.870_875del (p.Asp291_Asp292del)
c.2217_2222del (p.Asp740_Asp741del)
c.4830_4835del (p.Asp1611_Asp1612del)
c.2640_2645del (p.Asp881_Asp882del)
c.2316_2321del (p.Asp773_Asp774del)
 dbSNP
11g.118491227T>ACA382834312KMT2Ac.4827T>A (p.Tyr1609Ter)
c.504T>A (p.Tyr168Ter)
c.4728T>A (p.Tyr1576Ter)
c.4614T>A (p.Tyr1538Ter)
c.864T>A (p.Tyr288Ter)
c.2211T>A (p.Tyr737Ter)
c.4824T>A (p.Tyr1608Ter)
c.2634T>A (p.Tyr878Ter)
c.2310T>A (p.Tyr770Ter)
11g.118491227T>CCA477091626KMT2Ac.4827T>C (p.Tyr1609=)
c.504T>C (p.Tyr168=)
c.4728T>C (p.Tyr1576=)
c.4614T>C (p.Tyr1538=)
c.864T>C (p.Tyr288=)
c.2211T>C (p.Tyr737=)
c.4824T>C (p.Tyr1608=)
c.2634T>C (p.Tyr878=)
c.2310T>C (p.Tyr770=)
 dbSNP
11g.118491227T>GCA382834313KMT2Ac.4827T>G (p.Tyr1609Ter)
c.504T>G (p.Tyr168Ter)
c.4728T>G (p.Tyr1576Ter)
c.4614T>G (p.Tyr1538Ter)
c.864T>G (p.Tyr288Ter)
c.2211T>G (p.Tyr737Ter)
c.4824T>G (p.Tyr1608Ter)
c.2634T>G (p.Tyr878Ter)
c.2310T>G (p.Tyr770Ter)
11g.118491227T=CA2003519115KMT2Ac.4827T= (p.Tyr1609=)
c.504T= (p.Tyr168=)
c.4728T= (p.Tyr1576=)
c.4614T= (p.Tyr1538=)
c.864T= (p.Tyr288=)
c.2211T= (p.Tyr737=)
c.4824T= (p.Tyr1608=)
c.2634T= (p.Tyr878=)
c.2310T= (p.Tyr770=)
11g.118491228G>ACA382834314KMT2Ac.4828G>A (p.Asp1610Asn)
c.505G>A (p.Asp169Asn)
c.4729G>A (p.Asp1577Asn)
c.4615G>A (p.Asp1539Asn)
c.865G>A (p.Asp289Asn)
c.2212G>A (p.Asp738Asn)
c.4825G>A (p.Asp1609Asn)
c.2635G>A (p.Asp879Asn)
c.2311G>A (p.Asp771Asn)
11g.118491228G>CCA382834315KMT2Ac.4828G>C (p.Asp1610His)
c.505G>C (p.Asp169His)
c.4729G>C (p.Asp1577His)
c.4615G>C (p.Asp1539His)
c.865G>C (p.Asp289His)
c.2212G>C (p.Asp738His)
c.4825G>C (p.Asp1609His)
c.2635G>C (p.Asp879His)
c.2311G>C (p.Asp771His)
11g.118491228G>TCA382834316KMT2Ac.4828G>T (p.Asp1610Tyr)
c.505G>T (p.Asp169Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4615G>T (p.Asp1539Tyr)
c.865G>T (p.Asp289Tyr)
c.2212G>T (p.Asp738Tyr)
c.4825G>T (p.Asp1609Tyr)
c.2635G>T (p.Asp879Tyr)
c.2311G>T (p.Asp771Tyr)
11g.118491229A>CCA382834317KMT2Ac.4829A>C (p.Asp1610Ala)
c.506A>C (p.Asp169Ala)
c.4730A>C (p.Asp1577Ala)
c.4616A>C (p.Asp1539Ala)
c.866A>C (p.Asp289Ala)
c.2213A>C (p.Asp738Ala)
c.4826A>C (p.Asp1609Ala)
c.2636A>C (p.Asp879Ala)
c.2312A>C (p.Asp771Ala)
11g.118491229A>GCA382834318KMT2Ac.4829A>G (p.Asp1610Gly)
c.506A>G (p.Asp169Gly)
c.4730A>G (p.Asp1577Gly)
c.4616A>G (p.Asp1539Gly)
c.866A>G (p.Asp289Gly)
c.2213A>G (p.Asp738Gly)
c.4826A>G (p.Asp1609Gly)
c.2636A>G (p.Asp879Gly)
c.2312A>G (p.Asp771Gly)
11g.118491229A>TCA382834319KMT2Ac.4829A>T (p.Asp1610Val)
c.506A>T (p.Asp169Val)
c.4730A>T (p.Asp1577Val)
c.4616A>T (p.Asp1539Val)
c.866A>T (p.Asp289Val)
c.2213A>T (p.Asp738Val)
c.4826A>T (p.Asp1609Val)
c.2636A>T (p.Asp879Val)
c.2312A>T (p.Asp771Val)
11g.118491230T>ACA382834320KMT2Ac.4830T>A (p.Asp1610Glu)
c.507T>A (p.Asp169Glu)
c.4731T>A (p.Asp1577Glu)
c.4617T>A (p.Asp1539Glu)
c.867T>A (p.Asp289Glu)
c.2214T>A (p.Asp738Glu)
c.4827T>A (p.Asp1609Glu)
c.2637T>A (p.Asp879Glu)
c.2313T>A (p.Asp771Glu)
11g.118491230T>CCA477091628KMT2Ac.4830T>C (p.Asp1610=)
c.507T>C (p.Asp169=)
c.4731T>C (p.Asp1577=)
c.4617T>C (p.Asp1539=)
c.867T>C (p.Asp289=)
c.2214T>C (p.Asp738=)
c.4827T>C (p.Asp1609=)
c.2637T>C (p.Asp879=)
c.2313T>C (p.Asp771=)
 ClinVar
11g.118491230T>GCA382834321KMT2Ac.4830T>G (p.Asp1610Glu)
c.507T>G (p.Asp169Glu)
c.4731T>G (p.Asp1577Glu)
c.4617T>G (p.Asp1539Glu)
c.867T>G (p.Asp289Glu)
c.2214T>G (p.Asp738Glu)
c.4827T>G (p.Asp1609Glu)
c.2637T>G (p.Asp879Glu)
c.2313T>G (p.Asp771Glu)
11g.118491231G>ACA382834323KMT2Ac.4831G>A (p.Asp1611Asn)
c.508G>A (p.Asp170Asn)
c.4732G>A (p.Asp1578Asn)
c.4618G>A (p.Asp1540Asn)
c.868G>A (p.Asp290Asn)
c.2215G>A (p.Asp739Asn)
c.4828G>A (p.Asp1610Asn)
c.2638G>A (p.Asp880Asn)
c.2314G>A (p.Asp772Asn)
 gnomAD v4
11g.118491231G>CCA382834324KMT2Ac.4831G>C (p.Asp1611His)
c.508G>C (p.Asp170His)
c.4732G>C (p.Asp1578His)
c.4618G>C (p.Asp1540His)
c.868G>C (p.Asp290His)
c.2215G>C (p.Asp739His)
c.4828G>C (p.Asp1610His)
c.2638G>C (p.Asp880His)
c.2314G>C (p.Asp772His)
11g.118491231G>TCA382834322KMT2Ac.4831G>T (p.Asp1611Tyr)
c.508G>T (p.Asp170Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4618G>T (p.Asp1540Tyr)
c.868G>T (p.Asp290Tyr)
c.2215G>T (p.Asp739Tyr)
c.4828G>T (p.Asp1610Tyr)
c.2638G>T (p.Asp880Tyr)
c.2314G>T (p.Asp772Tyr)
11g.118491232A>CCA382834325KMT2Ac.4832A>C (p.Asp1611Ala)
c.509A>C (p.Asp170Ala)
c.4733A>C (p.Asp1578Ala)
c.4619A>C (p.Asp1540Ala)
c.869A>C (p.Asp290Ala)
c.2216A>C (p.Asp739Ala)
c.4829A>C (p.Asp1610Ala)
c.2639A>C (p.Asp880Ala)
c.2315A>C (p.Asp772Ala)
11g.118491232A>GCA382834327KMT2Ac.4832A>G (p.Asp1611Gly)
c.509A>G (p.Asp170Gly)
c.4733A>G (p.Asp1578Gly)
c.4619A>G (p.Asp1540Gly)
c.869A>G (p.Asp290Gly)
c.2216A>G (p.Asp739Gly)
c.4829A>G (p.Asp1610Gly)
c.2639A>G (p.Asp880Gly)
c.2315A>G (p.Asp772Gly)
 ClinVar dbSNP
11g.118491232A>TCA382834326KMT2Ac.4832A>T (p.Asp1611Val)
c.509A>T (p.Asp170Val)
c.4733A>T (p.Asp1578Val)
c.4619A>T (p.Asp1540Val)
c.869A>T (p.Asp290Val)
c.2216A>T (p.Asp739Val)
c.4829A>T (p.Asp1610Val)
c.2639A>T (p.Asp880Val)
c.2315A>T (p.Asp772Val)
11g.118491233T>ACA382834328KMT2Ac.4833T>A (p.Asp1611Glu)
c.510T>A (p.Asp170Glu)
c.4734T>A (p.Asp1578Glu)
c.4620T>A (p.Asp1540Glu)
c.870T>A (p.Asp290Glu)
c.2217T>A (p.Asp739Glu)
c.4830T>A (p.Asp1610Glu)
c.2640T>A (p.Asp880Glu)
c.2316T>A (p.Asp772Glu)
11g.118491233T>CCA477091629KMT2Ac.4833T>C (p.Asp1611=)
c.510T>C (p.Asp170=)
c.4734T>C (p.Asp1578=)
c.4620T>C (p.Asp1540=)
c.870T>C (p.Asp290=)
c.2217T>C (p.Asp739=)
c.4830T>C (p.Asp1610=)
c.2640T>C (p.Asp880=)
c.2316T>C (p.Asp772=)
11g.118491233T>GCA382834329KMT2Ac.4833T>G (p.Asp1611Glu)
c.510T>G (p.Asp170Glu)
c.4734T>G (p.Asp1578Glu)
c.4620T>G (p.Asp1540Glu)
c.870T>G (p.Asp290Glu)
c.2217T>G (p.Asp739Glu)
c.4830T>G (p.Asp1610Glu)
c.2640T>G (p.Asp880Glu)
c.2316T>G (p.Asp772Glu)
11g.118491234G>ACA382834330KMT2Ac.4834G>A (p.Asp1612Asn)
c.511G>A (p.Asp171Asn)
c.4735G>A (p.Asp1579Asn)
c.4621G>A (p.Asp1541Asn)
c.871G>A (p.Asp291Asn)
c.2218G>A (p.Asp740Asn)
c.4831G>A (p.Asp1611Asn)
c.2641G>A (p.Asp881Asn)
c.2317G>A (p.Asp773Asn)
11g.118491234G>CCA382834331KMT2Ac.4834G>C (p.Asp1612His)
c.511G>C (p.Asp171His)
c.4735G>C (p.Asp1579His)
c.4621G>C (p.Asp1541His)
c.871G>C (p.Asp291His)
c.2218G>C (p.Asp740His)
c.4831G>C (p.Asp1611His)
c.2641G>C (p.Asp881His)
c.2317G>C (p.Asp773His)
 gnomAD v4
11g.118491234G>TCA382834332KMT2Ac.4834G>T (p.Asp1612Tyr)
c.511G>T (p.Asp171Tyr)
c.4735G>T (p.Asp1579Tyr)
c.4621G>T (p.Asp1541Tyr)
c.871G>T (p.Asp291Tyr)
c.2218G>T (p.Asp740Tyr)
c.4831G>T (p.Asp1611Tyr)
c.2641G>T (p.Asp881Tyr)
c.2317G>T (p.Asp773Tyr)
11g.118491235A=CA2003519117KMT2Ac.4835A= (p.Asp1612=)
c.512A= (p.Asp171=)
c.4736A= (p.Asp1579=)
c.4622A= (p.Asp1541=)
c.872A= (p.Asp291=)
c.2219A= (p.Asp740=)
c.4832A= (p.Asp1611=)
c.2642A= (p.Asp881=)
c.2318A= (p.Asp773=)
11g.118491235A>CCA382834333KMT2Ac.4835A>C (p.Asp1612Ala)
c.512A>C (p.Asp171Ala)
c.4736A>C (p.Asp1579Ala)
c.4622A>C (p.Asp1541Ala)
c.872A>C (p.Asp291Ala)
c.2219A>C (p.Asp740Ala)
c.4832A>C (p.Asp1611Ala)
c.2642A>C (p.Asp881Ala)
c.2318A>C (p.Asp773Ala)
11g.118491235A>GCA229531373KMT2Ac.4835A>G (p.Asp1612Gly)
c.512A>G (p.Asp171Gly)
c.4736A>G (p.Asp1579Gly)
c.4622A>G (p.Asp1541Gly)
c.872A>G (p.Asp291Gly)
c.2219A>G (p.Asp740Gly)
c.4832A>G (p.Asp1611Gly)
c.2642A>G (p.Asp881Gly)
c.2318A>G (p.Asp773Gly)
 dbSNP
11g.118491235A>TCA382834334KMT2Ac.4835A>T (p.Asp1612Val)
c.512A>T (p.Asp171Val)
c.4736A>T (p.Asp1579Val)
c.4622A>T (p.Asp1541Val)
c.872A>T (p.Asp291Val)
c.2219A>T (p.Asp740Val)
c.4832A>T (p.Asp1611Val)
c.2642A>T (p.Asp881Val)
c.2318A>T (p.Asp773Val)
11g.118491236T>ACA382834335KMT2Ac.4836T>A (p.Asp1612Glu)
c.513T>A (p.Asp171Glu)
c.4737T>A (p.Asp1579Glu)
c.4623T>A (p.Asp1541Glu)
c.873T>A (p.Asp291Glu)
c.2220T>A (p.Asp740Glu)
c.4833T>A (p.Asp1611Glu)
c.2643T>A (p.Asp881Glu)
c.2319T>A (p.Asp773Glu)
11g.118491236T>CCA477091630KMT2Ac.4836T>C (p.Asp1612=)
c.513T>C (p.Asp171=)
c.4737T>C (p.Asp1579=)
c.4623T>C (p.Asp1541=)
c.873T>C (p.Asp291=)
c.2220T>C (p.Asp740=)
c.4833T>C (p.Asp1611=)
c.2643T>C (p.Asp881=)
c.2319T>C (p.Asp773=)
11g.118491236T>GCA382834336KMT2Ac.4836T>G (p.Asp1612Glu)
c.513T>G (p.Asp171Glu)
c.4737T>G (p.Asp1579Glu)
c.4623T>G (p.Asp1541Glu)
c.873T>G (p.Asp291Glu)
c.2220T>G (p.Asp740Glu)
c.4833T>G (p.Asp1611Glu)
c.2643T>G (p.Asp881Glu)
c.2319T>G (p.Asp773Glu)
11g.118491237G>ACA382834337KMT2Ac.4837G>A (p.Asp1613Asn)
c.514G>A (p.Asp172Asn)
c.4738G>A (p.Asp1580Asn)
c.4624G>A (p.Asp1542Asn)
c.874G>A (p.Asp292Asn)
c.2221G>A (p.Asp741Asn)
c.4834G>A (p.Asp1612Asn)
c.2644G>A (p.Asp882Asn)
c.2320G>A (p.Asp774Asn)
 COSMIC COSMIC
11g.118491237G>CCA382834338KMT2Ac.4837G>C (p.Asp1613His)
c.514G>C (p.Asp172His)
c.4738G>C (p.Asp1580His)
c.4624G>C (p.Asp1542His)
c.874G>C (p.Asp292His)
c.2221G>C (p.Asp741His)
c.4834G>C (p.Asp1612His)
c.2644G>C (p.Asp882His)
c.2320G>C (p.Asp774His)
11g.118491237G>TCA382834339KMT2Ac.4837G>T (p.Asp1613Tyr)
c.514G>T (p.Asp172Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4624G>T (p.Asp1542Tyr)
c.874G>T (p.Asp292Tyr)
c.2221G>T (p.Asp741Tyr)
c.4834G>T (p.Asp1612Tyr)
c.2644G>T (p.Asp882Tyr)
c.2320G>T (p.Asp774Tyr)
11g.118491238A>CCA382834342KMT2Ac.4838A>C (p.Asp1613Ala)
c.515A>C (p.Asp172Ala)
c.4739A>C (p.Asp1580Ala)
c.4625A>C (p.Asp1542Ala)
c.875A>C (p.Asp292Ala)
c.2222A>C (p.Asp741Ala)
c.4835A>C (p.Asp1612Ala)
c.2645A>C (p.Asp882Ala)
c.2321A>C (p.Asp774Ala)
 gnomAD v4
11g.118491238A>GCA382834341KMT2Ac.4838A>G (p.Asp1613Gly)
c.515A>G (p.Asp172Gly)
c.4739A>G (p.Asp1580Gly)
c.4625A>G (p.Asp1542Gly)
c.875A>G (p.Asp292Gly)
c.2222A>G (p.Asp741Gly)
c.4835A>G (p.Asp1612Gly)
c.2645A>G (p.Asp882Gly)
c.2321A>G (p.Asp774Gly)
11g.118491238A>TCA382834340KMT2Ac.4838A>T (p.Asp1613Val)
c.515A>T (p.Asp172Val)
c.4739A>T (p.Asp1580Val)
c.4625A>T (p.Asp1542Val)
c.875A>T (p.Asp292Val)
c.2222A>T (p.Asp741Val)
c.4835A>T (p.Asp1612Val)
c.2645A>T (p.Asp882Val)
c.2321A>T (p.Asp774Val)
 COSMIC
11g.118491239C>ACA382834343KMT2Ac.4839C>A (p.Asp1613Glu)
c.516C>A (p.Asp172Glu)
c.4740C>A (p.Asp1580Glu)
c.4626C>A (p.Asp1542Glu)
c.876C>A (p.Asp292Glu)
c.2223C>A (p.Asp741Glu)
c.4836C>A (p.Asp1612Glu)
c.2646C>A (p.Asp882Glu)
c.2322C>A (p.Asp774Glu)
 dbSNP
11g.118491239C>GCA382834344KMT2Ac.4839C>G (p.Asp1613Glu)
c.516C>G (p.Asp172Glu)
c.4740C>G (p.Asp1580Glu)
c.4626C>G (p.Asp1542Glu)
c.876C>G (p.Asp292Glu)
c.2223C>G (p.Asp741Glu)
c.4836C>G (p.Asp1612Glu)
c.2646C>G (p.Asp882Glu)
c.2322C>G (p.Asp774Glu)
11g.118491239C>TCA477091631KMT2Ac.4839C>T (p.Asp1613=)
c.516C>T (p.Asp172=)
c.4740C>T (p.Asp1580=)
c.4626C>T (p.Asp1542=)
c.876C>T (p.Asp292=)
c.2223C>T (p.Asp741=)
c.4836C>T (p.Asp1612=)
c.2646C>T (p.Asp882=)
c.2322C>T (p.Asp774=)
11g.118491240T>ACA382834345KMT2Ac.4840T>A (p.Tyr1614Asn)
c.517T>A (p.Tyr173Asn)
c.4741T>A (p.Tyr1581Asn)
c.4627T>A (p.Tyr1543Asn)
c.877T>A (p.Tyr293Asn)
c.2224T>A (p.Tyr742Asn)
c.4837T>A (p.Tyr1613Asn)
c.2647T>A (p.Tyr883Asn)
c.2323T>A (p.Tyr775Asn)
11g.118491240T>CCA382834346KMT2Ac.4840T>C (p.Tyr1614His)
c.517T>C (p.Tyr173His)
c.4741T>C (p.Tyr1581His)
c.4627T>C (p.Tyr1543His)
c.877T>C (p.Tyr293His)
c.2224T>C (p.Tyr742His)
c.4837T>C (p.Tyr1613His)
c.2647T>C (p.Tyr883His)
c.2323T>C (p.Tyr775His)
11g.118491240T>GCA382834347KMT2Ac.4840T>G (p.Tyr1614Asp)
c.517T>G (p.Tyr173Asp)
c.4741T>G (p.Tyr1581Asp)
c.4627T>G (p.Tyr1543Asp)
c.877T>G (p.Tyr293Asp)
c.2224T>G (p.Tyr742Asp)
c.4837T>G (p.Tyr1613Asp)
c.2647T>G (p.Tyr883Asp)
c.2323T>G (p.Tyr775Asp)
11g.118491241A=CA2003519121KMT2Ac.4841A= (p.Tyr1614=)
c.518A= (p.Tyr173=)
c.4742A= (p.Tyr1581=)
c.4628A= (p.Tyr1543=)
c.878A= (p.Tyr293=)
c.2225A= (p.Tyr742=)
c.4838A= (p.Tyr1613=)
c.2648A= (p.Tyr883=)
c.2324A= (p.Tyr775=)
11g.118491241A>CCA382834348KMT2Ac.4841A>C (p.Tyr1614Ser)
c.518A>C (p.Tyr173Ser)
c.4742A>C (p.Tyr1581Ser)
c.4628A>C (p.Tyr1543Ser)
c.878A>C (p.Tyr293Ser)
c.2225A>C (p.Tyr742Ser)
c.4838A>C (p.Tyr1613Ser)
c.2648A>C (p.Tyr883Ser)
c.2324A>C (p.Tyr775Ser)
11g.118491241A>GCA382834349KMT2Ac.4841A>G (p.Tyr1614Cys)
c.518A>G (p.Tyr173Cys)
c.4742A>G (p.Tyr1581Cys)
c.4628A>G (p.Tyr1543Cys)
c.878A>G (p.Tyr293Cys)
c.2225A>G (p.Tyr742Cys)
c.4838A>G (p.Tyr1613Cys)
c.2648A>G (p.Tyr883Cys)
c.2324A>G (p.Tyr775Cys)
 ClinVar dbSNP gnomAD v4
11g.118491241A>TCA382834350KMT2Ac.4841A>T (p.Tyr1614Phe)
c.518A>T (p.Tyr173Phe)
c.4742A>T (p.Tyr1581Phe)
c.4628A>T (p.Tyr1543Phe)
c.878A>T (p.Tyr293Phe)
c.2225A>T (p.Tyr742Phe)
c.4838A>T (p.Tyr1613Phe)
c.2648A>T (p.Tyr883Phe)
c.2324A>T (p.Tyr775Phe)
11g.118491242T>ACA382834351KMT2Ac.4842T>A (p.Tyr1614Ter)
c.519T>A (p.Tyr173Ter)
c.4743T>A (p.Tyr1581Ter)
c.4629T>A (p.Tyr1543Ter)
c.879T>A (p.Tyr293Ter)
c.2226T>A (p.Tyr742Ter)
c.4839T>A (p.Tyr1613Ter)
c.2649T>A (p.Tyr883Ter)
c.2325T>A (p.Tyr775Ter)
11g.118491242T>CCA477091632KMT2Ac.4842T>C (p.Tyr1614=)
c.519T>C (p.Tyr173=)
c.4743T>C (p.Tyr1581=)
c.4629T>C (p.Tyr1543=)
c.879T>C (p.Tyr293=)
c.2226T>C (p.Tyr742=)
c.4839T>C (p.Tyr1613=)
c.2649T>C (p.Tyr883=)
c.2325T>C (p.Tyr775=)
11g.118491242T>GCA382834352KMT2Ac.4842T>G (p.Tyr1614Ter)
c.519T>G (p.Tyr173Ter)
c.4743T>G (p.Tyr1581Ter)
c.4629T>G (p.Tyr1543Ter)
c.879T>G (p.Tyr293Ter)
c.2226T>G (p.Tyr742Ter)
c.4839T>G (p.Tyr1613Ter)
c.2649T>G (p.Tyr883Ter)
c.2325T>G (p.Tyr775Ter)
11g.118491243G>ACA382834353KMT2Ac.4843G>A (p.Glu1615Lys)
c.520G>A (p.Glu174Lys)
c.4744G>A (p.Glu1582Lys)
c.4630G>A (p.Glu1544Lys)
c.880G>A (p.Glu294Lys)
c.2227G>A (p.Glu743Lys)
c.4840G>A (p.Glu1614Lys)
c.2650G>A (p.Glu884Lys)
c.2326G>A (p.Glu776Lys)
11g.118491243G>CCA382834354KMT2Ac.4843G>C (p.Glu1615Gln)
c.520G>C (p.Glu174Gln)
c.4744G>C (p.Glu1582Gln)
c.4630G>C (p.Glu1544Gln)
c.880G>C (p.Glu294Gln)
c.2227G>C (p.Glu743Gln)
c.4840G>C (p.Glu1614Gln)
c.2650G>C (p.Glu884Gln)
c.2326G>C (p.Glu776Gln)
11g.118491243G>TCA382834355KMT2Ac.4843G>T (p.Glu1615Ter)
c.520G>T (p.Glu174Ter)
c.4744G>T (p.Glu1582Ter)
c.4630G>T (p.Glu1544Ter)
c.880G>T (p.Glu294Ter)
c.2227G>T (p.Glu743Ter)
c.4840G>T (p.Glu1614Ter)
c.2650G>T (p.Glu884Ter)
c.2326G>T (p.Glu776Ter)
11g.118491244A>CCA382834357KMT2Ac.4844A>C (p.Glu1615Ala)
c.521A>C (p.Glu174Ala)
c.4745A>C (p.Glu1582Ala)
c.4631A>C (p.Glu1544Ala)
c.881A>C (p.Glu294Ala)
c.2228A>C (p.Glu743Ala)
c.4841A>C (p.Glu1614Ala)
c.2651A>C (p.Glu884Ala)
c.2327A>C (p.Glu776Ala)
 ClinVar
11g.118491244A>GCA382834358KMT2Ac.4844A>G (p.Glu1615Gly)
c.521A>G (p.Glu174Gly)
c.4745A>G (p.Glu1582Gly)
c.4631A>G (p.Glu1544Gly)
c.881A>G (p.Glu294Gly)
c.2228A>G (p.Glu743Gly)
c.4841A>G (p.Glu1614Gly)
c.2651A>G (p.Glu884Gly)
c.2327A>G (p.Glu776Gly)
 dbSNP
11g.118491244A>TCA382834356KMT2Ac.4844A>T (p.Glu1615Val)
c.521A>T (p.Glu174Val)
c.4745A>T (p.Glu1582Val)
c.4631A>T (p.Glu1544Val)
c.881A>T (p.Glu294Val)
c.2228A>T (p.Glu743Val)
c.4841A>T (p.Glu1614Val)
c.2651A>T (p.Glu884Val)
c.2327A>T (p.Glu776Val)
11g.118491245G>ACA477091633KMT2Ac.4845G>A (p.Glu1615=)
c.522G>A (p.Glu174=)
c.4746G>A (p.Glu1582=)
c.4632G>A (p.Glu1544=)
c.882G>A (p.Glu294=)
c.2229G>A (p.Glu743=)
c.4842G>A (p.Glu1614=)
c.2652G>A (p.Glu884=)
c.2328G>A (p.Glu776=)
11g.118491245G>CCA382834359KMT2Ac.4845G>C (p.Glu1615Asp)
c.522G>C (p.Glu174Asp)
c.4746G>C (p.Glu1582Asp)
c.4632G>C (p.Glu1544Asp)
c.882G>C (p.Glu294Asp)
c.2229G>C (p.Glu743Asp)
c.4842G>C (p.Glu1614Asp)
c.2652G>C (p.Glu884Asp)
c.2328G>C (p.Glu776Asp)
 ClinVar
11g.118491245G>TCA382834360KMT2Ac.4845G>T (p.Glu1615Asp)
c.522G>T (p.Glu174Asp)
c.4746G>T (p.Glu1582Asp)
c.4632G>T (p.Glu1544Asp)
c.882G>T (p.Glu294Asp)
c.2229G>T (p.Glu743Asp)
c.4842G>T (p.Glu1614Asp)
c.2652G>T (p.Glu884Asp)
c.2328G>T (p.Glu776Asp)
11g.118491246A>CCA382834361KMT2Ac.4846A>C (p.Ser1616Arg)
c.523A>C (p.Ser175Arg)
c.4747A>C (p.Ser1583Arg)
c.4633A>C (p.Ser1545Arg)
c.883A>C (p.Ser295Arg)
c.2230A>C (p.Ser744Arg)
c.4843A>C (p.Ser1615Arg)
c.2653A>C (p.Ser885Arg)
c.2329A>C (p.Ser777Arg)
11g.118491246A>GCA382834362KMT2Ac.4846A>G (p.Ser1616Gly)
c.523A>G (p.Ser175Gly)
c.4747A>G (p.Ser1583Gly)
c.4633A>G (p.Ser1545Gly)
c.883A>G (p.Ser295Gly)
c.2230A>G (p.Ser744Gly)
c.4843A>G (p.Ser1615Gly)
c.2653A>G (p.Ser885Gly)
c.2329A>G (p.Ser777Gly)
11g.118491246A>TCA382834363KMT2Ac.4846A>T (p.Ser1616Cys)
c.523A>T (p.Ser175Cys)
c.4747A>T (p.Ser1583Cys)
c.4633A>T (p.Ser1545Cys)
c.883A>T (p.Ser295Cys)
c.2230A>T (p.Ser744Cys)
c.4843A>T (p.Ser1615Cys)
c.2653A>T (p.Ser885Cys)
c.2329A>T (p.Ser777Cys)
11g.118491247G>ACA382834364KMT2Ac.4847G>A (p.Ser1616Asn)
c.524G>A (p.Ser175Asn)
c.4748G>A (p.Ser1583Asn)
c.4634G>A (p.Ser1545Asn)
c.884G>A (p.Ser295Asn)
c.2231G>A (p.Ser744Asn)
c.4844G>A (p.Ser1615Asn)
c.2654G>A (p.Ser885Asn)
c.2330G>A (p.Ser777Asn)
 dbSNP
11g.118491247G>CCA382834365KMT2Ac.4847G>C (p.Ser1616Thr)
c.524G>C (p.Ser175Thr)
c.4748G>C (p.Ser1583Thr)
c.4634G>C (p.Ser1545Thr)
c.884G>C (p.Ser295Thr)
c.2231G>C (p.Ser744Thr)
c.4844G>C (p.Ser1615Thr)
c.2654G>C (p.Ser885Thr)
c.2330G>C (p.Ser777Thr)
11g.118491247G=CA2003519125KMT2Ac.4847G= (p.Ser1616=)
c.524G= (p.Ser175=)
c.4748G= (p.Ser1583=)
c.4634G= (p.Ser1545=)
c.884G= (p.Ser295=)
c.2231G= (p.Ser744=)
c.4844G= (p.Ser1615=)
c.2654G= (p.Ser885=)
c.2330G= (p.Ser777=)
11g.118491247G>TCA382834366KMT2Ac.4847G>T (p.Ser1616Ile)
c.524G>T (p.Ser175Ile)
c.4748G>T (p.Ser1583Ile)
c.4634G>T (p.Ser1545Ile)
c.884G>T (p.Ser295Ile)
c.2231G>T (p.Ser744Ile)
c.4844G>T (p.Ser1615Ile)
c.2654G>T (p.Ser885Ile)
c.2330G>T (p.Ser777Ile)
11g.118491248T>ACA382834367KMT2Ac.4848T>A (p.Ser1616Arg)
c.525T>A (p.Ser175Arg)
c.4749T>A (p.Ser1583Arg)
c.4635T>A (p.Ser1545Arg)
c.885T>A (p.Ser295Arg)
c.2232T>A (p.Ser744Arg)
c.4845T>A (p.Ser1615Arg)
c.2655T>A (p.Ser885Arg)
c.2331T>A (p.Ser777Arg)
 dbSNP
11g.118491248T>CCA477091634KMT2Ac.4848T>C (p.Ser1616=)
c.525T>C (p.Ser175=)
c.4749T>C (p.Ser1583=)
c.4635T>C (p.Ser1545=)
c.885T>C (p.Ser295=)
c.2232T>C (p.Ser744=)
c.4845T>C (p.Ser1615=)
c.2655T>C (p.Ser885=)
c.2331T>C (p.Ser777=)
11g.118491248T>GCA382834368KMT2Ac.4848T>G (p.Ser1616Arg)
c.525T>G (p.Ser175Arg)
c.4749T>G (p.Ser1583Arg)
c.4635T>G (p.Ser1545Arg)
c.885T>G (p.Ser295Arg)
c.2232T>G (p.Ser744Arg)
c.4845T>G (p.Ser1615Arg)
c.2655T>G (p.Ser885Arg)
c.2331T>G (p.Ser777Arg)
11g.118491249A>CCA382834369KMT2Ac.4849A>C (p.Lys1617Gln)
c.526A>C (p.Lys176Gln)
c.4750A>C (p.Lys1584Gln)
c.4636A>C (p.Lys1546Gln)
c.886A>C (p.Lys296Gln)
c.2233A>C (p.Lys745Gln)
c.4846A>C (p.Lys1616Gln)
c.2656A>C (p.Lys886Gln)
c.2332A>C (p.Lys778Gln)
11g.118491249A>GCA382834370KMT2Ac.4849A>G (p.Lys1617Glu)
c.526A>G (p.Lys176Glu)
c.4750A>G (p.Lys1584Glu)
c.4636A>G (p.Lys1546Glu)
c.886A>G (p.Lys296Glu)
c.2233A>G (p.Lys745Glu)
c.4846A>G (p.Lys1616Glu)
c.2656A>G (p.Lys886Glu)
c.2332A>G (p.Lys778Glu)
 gnomAD v4
11g.118491249A>TCA382834371KMT2Ac.4849A>T (p.Lys1617Ter)
c.526A>T (p.Lys176Ter)
c.4750A>T (p.Lys1584Ter)
c.4636A>T (p.Lys1546Ter)
c.886A>T (p.Lys296Ter)
c.2233A>T (p.Lys745Ter)
c.4846A>T (p.Lys1616Ter)
c.2656A>T (p.Lys886Ter)
c.2332A>T (p.Lys778Ter)
11g.118491250A>CCA382834372KMT2Ac.4850A>C (p.Lys1617Thr)
c.527A>C (p.Lys176Thr)
c.4751A>C (p.Lys1584Thr)
c.4637A>C (p.Lys1546Thr)
c.887A>C (p.Lys296Thr)
c.2234A>C (p.Lys745Thr)
c.4847A>C (p.Lys1616Thr)
c.2657A>C (p.Lys886Thr)
c.2333A>C (p.Lys778Thr)
11g.118491250A>GCA382834374KMT2Ac.4850A>G (p.Lys1617Arg)
c.527A>G (p.Lys176Arg)
c.4751A>G (p.Lys1584Arg)
c.4637A>G (p.Lys1546Arg)
c.887A>G (p.Lys296Arg)
c.2234A>G (p.Lys745Arg)
c.4847A>G (p.Lys1616Arg)
c.2657A>G (p.Lys886Arg)
c.2333A>G (p.Lys778Arg)
11g.118491250A>TCA382834373KMT2Ac.4850A>T (p.Lys1617Met)
c.527A>T (p.Lys176Met)
c.4751A>T (p.Lys1584Met)
c.4637A>T (p.Lys1546Met)
c.887A>T (p.Lys296Met)
c.2234A>T (p.Lys745Met)
c.4847A>T (p.Lys1616Met)
c.2657A>T (p.Lys886Met)
c.2333A>T (p.Lys778Met)
11g.118491251G>ACA229531377KMT2Ac.4851G>A (p.Lys1617=)
c.528G>A (p.Lys176=)
c.4752G>A (p.Lys1584=)
c.4638G>A (p.Lys1546=)
c.888G>A (p.Lys296=)
c.2235G>A (p.Lys745=)
c.4848G>A (p.Lys1616=)
c.2658G>A (p.Lys886=)
c.2334G>A (p.Lys778=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491251G>CCA382834375KMT2Ac.4851G>C (p.Lys1617Asn)
c.528G>C (p.Lys176Asn)
c.4752G>C (p.Lys1584Asn)
c.4638G>C (p.Lys1546Asn)
c.888G>C (p.Lys296Asn)
c.2235G>C (p.Lys745Asn)
c.4848G>C (p.Lys1616Asn)
c.2658G>C (p.Lys886Asn)
c.2334G>C (p.Lys778Asn)
11g.118491251G=CA2003519128KMT2Ac.4851G= (p.Lys1617=)
c.528G= (p.Lys176=)
c.4752G= (p.Lys1584=)
c.4638G= (p.Lys1546=)
c.888G= (p.Lys296=)
c.2235G= (p.Lys745=)
c.4848G= (p.Lys1616=)
c.2658G= (p.Lys886=)
c.2334G= (p.Lys778=)
11g.118491251G>TCA382834376KMT2Ac.4851G>T (p.Lys1617Asn)
c.528G>T (p.Lys176Asn)
c.4752G>T (p.Lys1584Asn)
c.4638G>T (p.Lys1546Asn)
c.888G>T (p.Lys296Asn)
c.2235G>T (p.Lys745Asn)
c.4848G>T (p.Lys1616Asn)
c.2658G>T (p.Lys886Asn)
c.2334G>T (p.Lys778Asn)
11g.118491252A=CA2003519130KMT2Ac.4852A= (p.Met1618=)
c.529A= (p.Met177=)
c.4753A= (p.Met1585=)
c.4639A= (p.Met1547=)
c.889A= (p.Met297=)
c.2236A= (p.Met746=)
c.4849A= (p.Met1617=)
c.2659A= (p.Met887=)
c.2335A= (p.Met779=)
11g.118491252A>CCA382834377KMT2Ac.4852A>C (p.Met1618Leu)
c.529A>C (p.Met177Leu)
c.4753A>C (p.Met1585Leu)
c.4639A>C (p.Met1547Leu)
c.889A>C (p.Met297Leu)
c.2236A>C (p.Met746Leu)
c.4849A>C (p.Met1617Leu)
c.2659A>C (p.Met887Leu)
c.2335A>C (p.Met779Leu)
11g.118491252A>GCA382834378KMT2Ac.4852A>G (p.Met1618Val)
c.529A>G (p.Met177Val)
c.4753A>G (p.Met1585Val)
c.4639A>G (p.Met1547Val)
c.889A>G (p.Met297Val)
c.2236A>G (p.Met746Val)
c.4849A>G (p.Met1617Val)
c.2659A>G (p.Met887Val)
c.2335A>G (p.Met779Val)
 dbSNP
11g.118491252A>TCA382834379KMT2Ac.4852A>T (p.Met1618Leu)
c.529A>T (p.Met177Leu)
c.4753A>T (p.Met1585Leu)
c.4639A>T (p.Met1547Leu)
c.889A>T (p.Met297Leu)
c.2236A>T (p.Met746Leu)
c.4849A>T (p.Met1617Leu)
c.2659A>T (p.Met887Leu)
c.2335A>T (p.Met779Leu)
11g.118491253T>ACA382834380KMT2Ac.4853T>A (p.Met1618Lys)
c.530T>A (p.Met177Lys)
c.4754T>A (p.Met1585Lys)
c.4640T>A (p.Met1547Lys)
c.890T>A (p.Met297Lys)
c.2237T>A (p.Met746Lys)
c.4850T>A (p.Met1617Lys)
c.2660T>A (p.Met887Lys)
c.2336T>A (p.Met779Lys)
11g.118491253T>CCA6303941KMT2Ac.4853T>C (p.Met1618Thr)
c.530T>C (p.Met177Thr)
c.4754T>C (p.Met1585Thr)
c.4640T>C (p.Met1547Thr)
c.890T>C (p.Met297Thr)
c.2237T>C (p.Met746Thr)
c.4850T>C (p.Met1617Thr)
c.2660T>C (p.Met887Thr)
c.2336T>C (p.Met779Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118491253T>GCA382834381KMT2Ac.4853T>G (p.Met1618Arg)
c.530T>G (p.Met177Arg)
c.4754T>G (p.Met1585Arg)
c.4640T>G (p.Met1547Arg)
c.890T>G (p.Met297Arg)
c.2237T>G (p.Met746Arg)
c.4850T>G (p.Met1617Arg)
c.2660T>G (p.Met887Arg)
c.2336T>G (p.Met779Arg)
11g.118491253T=CA2003519132KMT2Ac.4853T= (p.Met1618=)
c.530T= (p.Met177=)
c.4754T= (p.Met1585=)
c.4640T= (p.Met1547=)
c.890T= (p.Met297=)
c.2237T= (p.Met746=)
c.4850T= (p.Met1617=)
c.2660T= (p.Met887=)
c.2336T= (p.Met779=)
11g.118491254G>ACA382834384KMT2Ac.4854G>A (p.Met1618Ile)
c.531G>A (p.Met177Ile)
c.4755G>A (p.Met1585Ile)
c.4641G>A (p.Met1547Ile)
c.891G>A (p.Met297Ile)
c.2238G>A (p.Met746Ile)
c.4851G>A (p.Met1617Ile)
c.2661G>A (p.Met887Ile)
c.2337G>A (p.Met779Ile)
 dbSNP
11g.118491254G>CCA382834383KMT2Ac.4854G>C (p.Met1618Ile)
c.531G>C (p.Met177Ile)
c.4755G>C (p.Met1585Ile)
c.4641G>C (p.Met1547Ile)
c.891G>C (p.Met297Ile)
c.2238G>C (p.Met746Ile)
c.4851G>C (p.Met1617Ile)
c.2661G>C (p.Met887Ile)
c.2337G>C (p.Met779Ile)
11g.118491254G>TCA382834382KMT2Ac.4854G>T (p.Met1618Ile)
c.531G>T (p.Met177Ile)
c.4755G>T (p.Met1585Ile)
c.4641G>T (p.Met1547Ile)
c.891G>T (p.Met297Ile)
c.2238G>T (p.Met746Ile)
c.4851G>T (p.Met1617Ile)
c.2661G>T (p.Met887Ile)
c.2337G>T (p.Met779Ile)
11g.118491255A>CCA382834385KMT2Ac.4855A>C (p.Met1619Leu)
c.532A>C (p.Met178Leu)
c.4756A>C (p.Met1586Leu)
c.4642A>C (p.Met1548Leu)
c.892A>C (p.Met298Leu)
c.2239A>C (p.Met747Leu)
c.4852A>C (p.Met1618Leu)
c.2662A>C (p.Met888Leu)
c.2338A>C (p.Met780Leu)
11g.118491255A>GCA382834387KMT2Ac.4855A>G (p.Met1619Val)
c.532A>G (p.Met178Val)
c.4756A>G (p.Met1586Val)
c.4642A>G (p.Met1548Val)
c.892A>G (p.Met298Val)
c.2239A>G (p.Met747Val)
c.4852A>G (p.Met1618Val)
c.2662A>G (p.Met888Val)
c.2338A>G (p.Met780Val)
 ClinVar
11g.118491255A>TCA382834386KMT2Ac.4855A>T (p.Met1619Leu)
c.532A>T (p.Met178Leu)
c.4756A>T (p.Met1586Leu)
c.4642A>T (p.Met1548Leu)
c.892A>T (p.Met298Leu)
c.2239A>T (p.Met747Leu)
c.4852A>T (p.Met1618Leu)
c.2662A>T (p.Met888Leu)
c.2338A>T (p.Met780Leu)
 gnomAD v4
11g.118491256T>ACA382834388KMT2Ac.4856T>A (p.Met1619Lys)
c.533T>A (p.Met178Lys)
c.4757T>A (p.Met1586Lys)
c.4643T>A (p.Met1548Lys)
c.893T>A (p.Met298Lys)
c.2240T>A (p.Met747Lys)
c.4853T>A (p.Met1618Lys)
c.2663T>A (p.Met888Lys)
c.2339T>A (p.Met780Lys)
11g.118491256T>CCA382834389KMT2Ac.4856T>C (p.Met1619Thr)
c.533T>C (p.Met178Thr)
c.4757T>C (p.Met1586Thr)
c.4643T>C (p.Met1548Thr)
c.893T>C (p.Met298Thr)
c.2240T>C (p.Met747Thr)
c.4853T>C (p.Met1618Thr)
c.2663T>C (p.Met888Thr)
c.2339T>C (p.Met780Thr)
 ClinVar
11g.118491256T>GCA382834390KMT2Ac.4856T>G (p.Met1619Arg)
c.533T>G (p.Met178Arg)
c.4757T>G (p.Met1586Arg)
c.4643T>G (p.Met1548Arg)
c.893T>G (p.Met298Arg)
c.2240T>G (p.Met747Arg)
c.4853T>G (p.Met1618Arg)
c.2663T>G (p.Met888Arg)
c.2339T>G (p.Met780Arg)
11g.118491257G>ACA382834391KMT2Ac.4857G>A (p.Met1619Ile)
c.534G>A (p.Met178Ile)
c.4758G>A (p.Met1586Ile)
c.4644G>A (p.Met1548Ile)
c.894G>A (p.Met298Ile)
c.2241G>A (p.Met747Ile)
c.4854G>A (p.Met1618Ile)
c.2664G>A (p.Met888Ile)
c.2340G>A (p.Met780Ile)
11g.118491257G>CCA382834392KMT2Ac.4857G>C (p.Met1619Ile)
c.534G>C (p.Met178Ile)
c.4758G>C (p.Met1586Ile)
c.4644G>C (p.Met1548Ile)
c.894G>C (p.Met298Ile)
c.2241G>C (p.Met747Ile)
c.4854G>C (p.Met1618Ile)
c.2664G>C (p.Met888Ile)
c.2340G>C (p.Met780Ile)
11g.118491257G>TCA382834393KMT2Ac.4857G>T (p.Met1619Ile)
c.534G>T (p.Met178Ile)
c.4758G>T (p.Met1586Ile)
c.4644G>T (p.Met1548Ile)
c.894G>T (p.Met298Ile)
c.2241G>T (p.Met747Ile)
c.4854G>T (p.Met1618Ile)
c.2664G>T (p.Met888Ile)
c.2340G>T (p.Met780Ile)
11g.118491258C>ACA382834394KMT2Ac.4858C>A (p.Gln1620Lys)
c.535C>A (p.Gln179Lys)
c.4759C>A (p.Gln1587Lys)
c.4645C>A (p.Gln1549Lys)
c.895C>A (p.Gln299Lys)
c.2242C>A (p.Gln748Lys)
c.4855C>A (p.Gln1619Lys)
c.2665C>A (p.Gln889Lys)
c.2341C>A (p.Gln781Lys)
 dbSNP
11g.118491258C>GCA382834395KMT2Ac.4858C>G (p.Gln1620Glu)
c.535C>G (p.Gln179Glu)
c.4759C>G (p.Gln1587Glu)
c.4645C>G (p.Gln1549Glu)
c.895C>G (p.Gln299Glu)
c.2242C>G (p.Gln748Glu)
c.4855C>G (p.Gln1619Glu)
c.2665C>G (p.Gln889Glu)
c.2341C>G (p.Gln781Glu)
11g.118491258C>TCA382834396KMT2Ac.4858C>T (p.Gln1620Ter)
c.535C>T (p.Gln179Ter)
c.4759C>T (p.Gln1587Ter)
c.4645C>T (p.Gln1549Ter)
c.895C>T (p.Gln299Ter)
c.2242C>T (p.Gln748Ter)
c.4855C>T (p.Gln1619Ter)
c.2665C>T (p.Gln889Ter)
c.2341C>T (p.Gln781Ter)
 dbSNP
11g.118491259A>CCA382834397KMT2Ac.4859A>C (p.Gln1620Pro)
c.536A>C (p.Gln179Pro)
c.4760A>C (p.Gln1587Pro)
c.4646A>C (p.Gln1549Pro)
c.896A>C (p.Gln299Pro)
c.2243A>C (p.Gln748Pro)
c.4856A>C (p.Gln1619Pro)
c.2666A>C (p.Gln889Pro)
c.2342A>C (p.Gln781Pro)
11g.118491259A>GCA382834398KMT2Ac.4859A>G (p.Gln1620Arg)
c.536A>G (p.Gln179Arg)
c.4760A>G (p.Gln1587Arg)
c.4646A>G (p.Gln1549Arg)
c.896A>G (p.Gln299Arg)
c.2243A>G (p.Gln748Arg)
c.4856A>G (p.Gln1619Arg)
c.2666A>G (p.Gln889Arg)
c.2342A>G (p.Gln781Arg)
 ClinVar
11g.118491259A>TCA382834399KMT2Ac.4859A>T (p.Gln1620Leu)
c.536A>T (p.Gln179Leu)
c.4760A>T (p.Gln1587Leu)
c.4646A>T (p.Gln1549Leu)
c.896A>T (p.Gln299Leu)
c.2243A>T (p.Gln748Leu)
c.4856A>T (p.Gln1619Leu)
c.2666A>T (p.Gln889Leu)
c.2342A>T (p.Gln781Leu)
11g.118491260A=CA2003519138KMT2Ac.4860A= (p.Gln1620=)
c.537A= (p.Gln179=)
c.4761A= (p.Gln1587=)
c.4647A= (p.Gln1549=)
c.897A= (p.Gln299=)
c.2244A= (p.Gln748=)
c.4857A= (p.Gln1619=)
c.2667A= (p.Gln889=)
c.2343A= (p.Gln781=)
11g.118491260A>CCA382834400KMT2Ac.4860A>C (p.Gln1620His)
c.537A>C (p.Gln179His)
c.4761A>C (p.Gln1587His)
c.4647A>C (p.Gln1549His)
c.897A>C (p.Gln299His)
c.2244A>C (p.Gln748His)
c.4857A>C (p.Gln1619His)
c.2667A>C (p.Gln889His)
c.2343A>C (p.Gln781His)
11g.118491260A>GCA477091635KMT2Ac.4860A>G (p.Gln1620=)
c.537A>G (p.Gln179=)
c.4761A>G (p.Gln1587=)
c.4647A>G (p.Gln1549=)
c.897A>G (p.Gln299=)
c.2244A>G (p.Gln748=)
c.4857A>G (p.Gln1619=)
c.2667A>G (p.Gln889=)
c.2343A>G (p.Gln781=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491260A>TCA382834401KMT2Ac.4860A>T (p.Gln1620His)
c.537A>T (p.Gln179His)
c.4761A>T (p.Gln1587His)
c.4647A>T (p.Gln1549His)
c.897A>T (p.Gln299His)
c.2244A>T (p.Gln748His)
c.4857A>T (p.Gln1619His)
c.2667A>T (p.Gln889His)
c.2343A>T (p.Gln781His)
11g.118491261T>ACA382834402KMT2Ac.4861T>A (p.Cys1621Ser)
c.538T>A (p.Cys180Ser)
c.4762T>A (p.Cys1588Ser)
c.4648T>A (p.Cys1550Ser)
c.898T>A (p.Cys300Ser)
c.2245T>A (p.Cys749Ser)
c.4858T>A (p.Cys1620Ser)
c.2668T>A (p.Cys890Ser)
c.2344T>A (p.Cys782Ser)
11g.118491261T>CCA382834403KMT2Ac.4861T>C (p.Cys1621Arg)
c.538T>C (p.Cys180Arg)
c.4762T>C (p.Cys1588Arg)
c.4648T>C (p.Cys1550Arg)
c.898T>C (p.Cys300Arg)
c.2245T>C (p.Cys749Arg)
c.4858T>C (p.Cys1620Arg)
c.2668T>C (p.Cys890Arg)
c.2344T>C (p.Cys782Arg)
11g.118491261T>GCA382834404KMT2Ac.4861T>G (p.Cys1621Gly)
c.538T>G (p.Cys180Gly)
c.4762T>G (p.Cys1588Gly)
c.4648T>G (p.Cys1550Gly)
c.898T>G (p.Cys300Gly)
c.2245T>G (p.Cys749Gly)
c.4858T>G (p.Cys1620Gly)
c.2668T>G (p.Cys890Gly)
c.2344T>G (p.Cys782Gly)
11g.118491262G>ACA382834405KMT2Ac.4862G>A (p.Cys1621Tyr)
c.539G>A (p.Cys180Tyr)
c.4763G>A (p.Cys1588Tyr)
c.4649G>A (p.Cys1550Tyr)
c.899G>A (p.Cys300Tyr)
c.2246G>A (p.Cys749Tyr)
c.4859G>A (p.Cys1620Tyr)
c.2669G>A (p.Cys890Tyr)
c.2345G>A (p.Cys782Tyr)
 ClinVar
11g.118491262G>CCA382834406KMT2Ac.4862G>C (p.Cys1621Ser)
c.539G>C (p.Cys180Ser)
c.4763G>C (p.Cys1588Ser)
c.4649G>C (p.Cys1550Ser)
c.899G>C (p.Cys300Ser)
c.2246G>C (p.Cys749Ser)
c.4859G>C (p.Cys1620Ser)
c.2669G>C (p.Cys890Ser)
c.2345G>C (p.Cys782Ser)
11g.118491262G=CA2003519143KMT2Ac.4862G= (p.Cys1621=)
c.539G= (p.Cys180=)
c.4763G= (p.Cys1588=)
c.4649G= (p.Cys1550=)
c.899G= (p.Cys300=)
c.2246G= (p.Cys749=)
c.4859G= (p.Cys1620=)
c.2669G= (p.Cys890=)
c.2345G= (p.Cys782=)
11g.118491262G>TCA382834407KMT2Ac.4862G>T (p.Cys1621Phe)
c.539G>T (p.Cys180Phe)
c.4763G>T (p.Cys1588Phe)
c.4649G>T (p.Cys1550Phe)
c.899G>T (p.Cys300Phe)
c.2246G>T (p.Cys749Phe)
c.4859G>T (p.Cys1620Phe)
c.2669G>T (p.Cys890Phe)
c.2345G>T (p.Cys782Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.118491263T>ACA382834408KMT2Ac.4863T>A (p.Cys1621Ter)
c.540T>A (p.Cys180Ter)
c.4764T>A (p.Cys1588Ter)
c.4650T>A (p.Cys1550Ter)
c.900T>A (p.Cys300Ter)
c.2247T>A (p.Cys749Ter)
c.4860T>A (p.Cys1620Ter)
c.2670T>A (p.Cys890Ter)
c.2346T>A (p.Cys782Ter)
11g.118491263T>CCA477091636KMT2Ac.4863T>C (p.Cys1621=)
c.540T>C (p.Cys180=)
c.4764T>C (p.Cys1588=)
c.4650T>C (p.Cys1550=)
c.900T>C (p.Cys300=)
c.2247T>C (p.Cys749=)
c.4860T>C (p.Cys1620=)
c.2670T>C (p.Cys890=)
c.2346T>C (p.Cys782=)
 dbSNP
11g.118491263T>GCA382834409KMT2Ac.4863T>G (p.Cys1621Trp)
c.540T>G (p.Cys180Trp)
c.4764T>G (p.Cys1588Trp)
c.4650T>G (p.Cys1550Trp)
c.900T>G (p.Cys300Trp)
c.2247T>G (p.Cys749Trp)
c.4860T>G (p.Cys1620Trp)
c.2670T>G (p.Cys890Trp)
c.2346T>G (p.Cys782Trp)
11g.118491263T=CA2003519146KMT2Ac.4863T= (p.Cys1621=)
c.540T= (p.Cys180=)
c.4764T= (p.Cys1588=)
c.4650T= (p.Cys1550=)
c.900T= (p.Cys300=)
c.2247T= (p.Cys749=)
c.4860T= (p.Cys1620=)
c.2670T= (p.Cys890=)
c.2346T= (p.Cys782=)
11g.118491264G>ACA382834410KMT2Ac.4864G>A (p.Gly1622Arg)
c.541G>A (p.Gly181Arg)
c.4765G>A (p.Gly1589Arg)
c.4651G>A (p.Gly1551Arg)
c.901G>A (p.Gly301Arg)
c.2248G>A (p.Gly750Arg)
c.4861G>A (p.Gly1621Arg)
c.2671G>A (p.Gly891Arg)
c.2347G>A (p.Gly783Arg)
11g.118491264G>CCA382834411KMT2Ac.4864G>C (p.Gly1622Arg)
c.541G>C (p.Gly181Arg)
c.4765G>C (p.Gly1589Arg)
c.4651G>C (p.Gly1551Arg)
c.901G>C (p.Gly301Arg)
c.2248G>C (p.Gly750Arg)
c.4861G>C (p.Gly1621Arg)
c.2671G>C (p.Gly891Arg)
c.2347G>C (p.Gly783Arg)
11g.118491264G>TCA382834412KMT2Ac.4864G>T (p.Gly1622Ter)
c.541G>T (p.Gly181Ter)
c.4765G>T (p.Gly1589Ter)
c.4651G>T (p.Gly1551Ter)
c.901G>T (p.Gly301Ter)
c.2248G>T (p.Gly750Ter)
c.4861G>T (p.Gly1621Ter)
c.2671G>T (p.Gly891Ter)
c.2347G>T (p.Gly783Ter)
11g.118491265G>ACA382834414KMT2Ac.4865G>A (p.Gly1622Glu)
c.542G>A (p.Gly181Glu)
c.4766G>A (p.Gly1589Glu)
c.4652G>A (p.Gly1551Glu)
c.902G>A (p.Gly301Glu)
c.2249G>A (p.Gly750Glu)
c.4862G>A (p.Gly1621Glu)
c.2672G>A (p.Gly891Glu)
c.2348G>A (p.Gly783Glu)
 dbSNP
11g.118491265G>CCA382834415KMT2Ac.4865G>C (p.Gly1622Ala)
c.542G>C (p.Gly181Ala)
c.4766G>C (p.Gly1589Ala)
c.4652G>C (p.Gly1551Ala)
c.902G>C (p.Gly301Ala)
c.2249G>C (p.Gly750Ala)
c.4862G>C (p.Gly1621Ala)
c.2672G>C (p.Gly891Ala)
c.2348G>C (p.Gly783Ala)
11g.118491265G>TCA382834413KMT2Ac.4865G>T (p.Gly1622Val)
c.542G>T (p.Gly181Val)
c.4766G>T (p.Gly1589Val)
c.4652G>T (p.Gly1551Val)
c.902G>T (p.Gly301Val)
c.2249G>T (p.Gly750Val)
c.4862G>T (p.Gly1621Val)
c.2672G>T (p.Gly891Val)
c.2348G>T (p.Gly783Val)

Number of alleles fetched