Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118480121G>ACA942722076KMT2Ac.3669-53G>A (n.3669-53G>A)
c.1152-53G>A (n.1152-53G>A)
c.1053-53G>A (n.1053-53G>A)
c.1377-53G>A (n.1377-53G>A)
c.551-53G>A
c.3570-53G>A (n.3570-53G>A)
c.822-53G>A (n.822-53G>A)
c.2340-53G>A (n.2340-53G>A)
c.1476-53G>A (n.1476-53G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.118480121G>CCA2616261675KMT2Ac.3669-53G>C (n.3669-53G>C)
c.1152-53G>C (n.1152-53G>C)
c.1053-53G>C (n.1053-53G>C)
c.1377-53G>C (n.1377-53G>C)
c.551-53G>C
c.3570-53G>C (n.3570-53G>C)
c.822-53G>C (n.822-53G>C)
c.2340-53G>C (n.2340-53G>C)
c.1476-53G>C (n.1476-53G>C)
 gnomAD v4
11g.118480121G=CA2003511943KMT2Ac.3669-53G= (n.3669-53G=)
c.1152-53G= (n.1152-53G=)
c.1053-53G= (n.1053-53G=)
c.1377-53G= (n.1377-53G=)
c.551-53G=
c.3570-53G= (n.3570-53G=)
c.822-53G= (n.822-53G=)
c.2340-53G= (n.2340-53G=)
c.1476-53G= (n.1476-53G=)
11g.118480123G>ACA2616261676KMT2Ac.3669-51G>A (n.3669-51G>A)
c.1152-51G>A (n.1152-51G>A)
c.1053-51G>A (n.1053-51G>A)
c.1377-51G>A (n.1377-51G>A)
c.551-51G>A
c.3570-51G>A (n.3570-51G>A)
c.822-51G>A (n.822-51G>A)
c.2340-51G>A (n.2340-51G>A)
c.1476-51G>A (n.1476-51G>A)
 gnomAD v4
11g.118480123G>TCA2616261677KMT2Ac.3669-51G>T (n.3669-51G>T)
c.1152-51G>T (n.1152-51G>T)
c.1053-51G>T (n.1053-51G>T)
c.1377-51G>T (n.1377-51G>T)
c.551-51G>T
c.3570-51G>T (n.3570-51G>T)
c.822-51G>T (n.822-51G>T)
c.2340-51G>T (n.2340-51G>T)
c.1476-51G>T (n.1476-51G>T)
 gnomAD v4
11g.118480124C>ACA2616261678KMT2Ac.3669-50C>A (n.3669-50C>A)
c.1152-50C>A (n.1152-50C>A)
c.1053-50C>A (n.1053-50C>A)
c.1377-50C>A (n.1377-50C>A)
c.551-50C>A
c.3570-50C>A (n.3570-50C>A)
c.822-50C>A (n.822-50C>A)
c.2340-50C>A (n.2340-50C>A)
c.1476-50C>A (n.1476-50C>A)
 gnomAD v4
11g.118480125T>CCA2616261679KMT2Ac.3669-49T>C (n.3669-49T>C)
c.1152-49T>C (n.1152-49T>C)
c.1053-49T>C (n.1053-49T>C)
c.1377-49T>C (n.1377-49T>C)
c.551-49T>C
c.3570-49T>C (n.3570-49T>C)
c.822-49T>C (n.822-49T>C)
c.2340-49T>C (n.2340-49T>C)
c.1476-49T>C (n.1476-49T>C)
 gnomAD v4
11g.118480128T>GCA2793815215KMT2Ac.3669-46T>G (n.3669-46T>G)
c.1152-46T>G (n.1152-46T>G)
c.1053-46T>G (n.1053-46T>G)
c.1377-46T>G (n.1377-46T>G)
c.551-46T>G
c.3570-46T>G (n.3570-46T>G)
c.822-46T>G (n.822-46T>G)
c.2340-46T>G (n.2340-46T>G)
c.1476-46T>G (n.1476-46T>G)
11g.118480129_118480130delCA2616261680KMT2Ac.3669-45_3669-44del (n.3669-45_3669-44del)
c.1152-45_1152-44del (n.1152-45_1152-44del)
c.1053-45_1053-44del (n.1053-45_1053-44del)
c.1377-45_1377-44del (n.1377-45_1377-44del)
c.551-45_551-44del
c.3570-45_3570-44del (n.3570-45_3570-44del)
c.822-45_822-44del (n.822-45_822-44del)
c.2340-45_2340-44del (n.2340-45_2340-44del)
c.1476-45_1476-44del (n.1476-45_1476-44del)
 gnomAD v4
11g.118480129C=CA2003511944KMT2Ac.3669-45C= (n.3669-45C=)
c.1152-45C= (n.1152-45C=)
c.1053-45C= (n.1053-45C=)
c.1377-45C= (n.1377-45C=)
c.551-45C=
c.3570-45C= (n.3570-45C=)
c.822-45C= (n.822-45C=)
c.2340-45C= (n.2340-45C=)
c.1476-45C= (n.1476-45C=)
11g.118480132_118480138dupCA2003511945KMT2Ac.3669-42_3669-36dup (n.3669-42_3669-36dup)
c.1152-42_1152-36dup (n.1152-42_1152-36dup)
c.1053-42_1053-36dup (n.1053-42_1053-36dup)
c.1377-42_1377-36dup (n.1377-42_1377-36dup)
c.551-42_551-36dup
c.3570-42_3570-36dup (n.3570-42_3570-36dup)
c.822-42_822-36dup (n.822-42_822-36dup)
c.2340-42_2340-36dup (n.2340-42_2340-36dup)
c.1476-42_1476-36dup (n.1476-42_1476-36dup)
 dbSNP
11g.118480133delCA2793815216KMT2Ac.3669-41del (n.3669-41del)
c.1152-41del (n.1152-41del)
c.1053-41del (n.1053-41del)
c.1377-41del (n.1377-41del)
c.551-41del
c.3570-41del (n.3570-41del)
c.822-41del (n.822-41del)
c.2340-41del (n.2340-41del)
c.1476-41del (n.1476-41del)
11g.118480136delCA2616261681KMT2Ac.3669-38del (n.3669-38del)
c.1152-38del (n.1152-38del)
c.1053-38del (n.1053-38del)
c.1377-38del (n.1377-38del)
c.551-38del
c.3570-38del (n.3570-38del)
c.822-38del (n.822-38del)
c.2340-38del (n.2340-38del)
c.1476-38del (n.1476-38del)
 gnomAD v4
11g.118480135A=CA2003511946KMT2Ac.3669-39A= (n.3669-39A=)
c.1152-39A= (n.1152-39A=)
c.1053-39A= (n.1053-39A=)
c.1377-39A= (n.1377-39A=)
c.551-39A=
c.3570-39A= (n.3570-39A=)
c.822-39A= (n.822-39A=)
c.2340-39A= (n.2340-39A=)
c.1476-39A= (n.1476-39A=)
11g.118480135A>CCA6303673KMT2Ac.3669-39A>C (n.3669-39A>C)
c.1152-39A>C (n.1152-39A>C)
c.1053-39A>C (n.1053-39A>C)
c.1377-39A>C (n.1377-39A>C)
c.551-39A>C
c.3570-39A>C (n.3570-39A>C)
c.822-39A>C (n.822-39A>C)
c.2340-39A>C (n.2340-39A>C)
c.1476-39A>C (n.1476-39A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480135A>TCA6303674KMT2Ac.3669-39A>T (n.3669-39A>T)
c.1152-39A>T (n.1152-39A>T)
c.1053-39A>T (n.1053-39A>T)
c.1377-39A>T (n.1377-39A>T)
c.551-39A>T
c.3570-39A>T (n.3570-39A>T)
c.822-39A>T (n.822-39A>T)
c.2340-39A>T (n.2340-39A>T)
c.1476-39A>T (n.1476-39A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480137T>CCA2616261682KMT2Ac.3669-37T>C (n.3669-37T>C)
c.1152-37T>C (n.1152-37T>C)
c.1053-37T>C (n.1053-37T>C)
c.1377-37T>C (n.1377-37T>C)
c.551-37T>C
c.3570-37T>C (n.3570-37T>C)
c.822-37T>C (n.822-37T>C)
c.2340-37T>C (n.2340-37T>C)
c.1476-37T>C (n.1476-37T>C)
 gnomAD v4
11g.118480138T>GCA602140264KMT2Ac.3669-36T>G (n.3669-36T>G)
c.1152-36T>G (n.1152-36T>G)
c.1053-36T>G (n.1053-36T>G)
c.1377-36T>G (n.1377-36T>G)
c.551-36T>G
c.3570-36T>G (n.3570-36T>G)
c.822-36T>G (n.822-36T>G)
c.2340-36T>G (n.2340-36T>G)
c.1476-36T>G (n.1476-36T>G)
 dbSNP gnomAD v2 gnomAD v4
11g.118480138T=CA2003511947KMT2Ac.3669-36T= (n.3669-36T=)
c.1152-36T= (n.1152-36T=)
c.1053-36T= (n.1053-36T=)
c.1377-36T= (n.1377-36T=)
c.551-36T=
c.3570-36T= (n.3570-36T=)
c.822-36T= (n.822-36T=)
c.2340-36T= (n.2340-36T=)
c.1476-36T= (n.1476-36T=)
11g.118480139T>CCA2616261683KMT2Ac.3669-35T>C (n.3669-35T>C)
c.1152-35T>C (n.1152-35T>C)
c.1053-35T>C (n.1053-35T>C)
c.1377-35T>C (n.1377-35T>C)
c.551-35T>C
c.3570-35T>C (n.3570-35T>C)
c.822-35T>C (n.822-35T>C)
c.2340-35T>C (n.2340-35T>C)
c.1476-35T>C (n.1476-35T>C)
 gnomAD v4
11g.118480140A>GCA2616261684KMT2Ac.3669-34A>G (n.3669-34A>G)
c.1152-34A>G (n.1152-34A>G)
c.1053-34A>G (n.1053-34A>G)
c.1377-34A>G (n.1377-34A>G)
c.551-34A>G
c.3570-34A>G (n.3570-34A>G)
c.822-34A>G (n.822-34A>G)
c.2340-34A>G (n.2340-34A>G)
c.1476-34A>G (n.1476-34A>G)
 gnomAD v4
11g.118480140A>TCA2574995336KMT2Ac.3669-34A>T (n.3669-34A>T)
c.1152-34A>T (n.1152-34A>T)
c.1053-34A>T (n.1053-34A>T)
c.1377-34A>T (n.1377-34A>T)
c.551-34A>T
c.3570-34A>T (n.3570-34A>T)
c.822-34A>T (n.822-34A>T)
c.2340-34A>T (n.2340-34A>T)
c.1476-34A>T (n.1476-34A>T)
11g.118480144T>ACA2616261685KMT2Ac.3669-30T>A (n.3669-30T>A)
c.1152-30T>A (n.1152-30T>A)
c.1053-30T>A (n.1053-30T>A)
c.1377-30T>A (n.1377-30T>A)
c.551-30T>A
c.3570-30T>A (n.3570-30T>A)
c.822-30T>A (n.822-30T>A)
c.2340-30T>A (n.2340-30T>A)
c.1476-30T>A (n.1476-30T>A)
 gnomAD v4
11g.118480145G>ACA2616261686KMT2Ac.3669-29G>A (n.3669-29G>A)
c.1152-29G>A (n.1152-29G>A)
c.1053-29G>A (n.1053-29G>A)
c.1377-29G>A (n.1377-29G>A)
c.551-29G>A
c.3570-29G>A (n.3570-29G>A)
c.822-29G>A (n.822-29G>A)
c.2340-29G>A (n.2340-29G>A)
c.1476-29G>A (n.1476-29G>A)
 gnomAD v4
11g.118480145_118480146delinsGTCA2003511948KMT2Ac.3669-29_3669-28delinsGT (n.3669-29_3669-28delinsGT)
c.1152-29_1152-28delinsGT (n.1152-29_1152-28delinsGT)
c.1053-29_1053-28delinsGT (n.1053-29_1053-28delinsGT)
c.1377-29_1377-28delinsGT (n.1377-29_1377-28delinsGT)
c.551-29_551-28delinsGT
c.3570-29_3570-28delinsGT (n.3570-29_3570-28delinsGT)
c.822-29_822-28delinsGT (n.822-29_822-28delinsGT)
c.2340-29_2340-28delinsGT (n.2340-29_2340-28delinsGT)
c.1476-29_1476-28delinsGT (n.1476-29_1476-28delinsGT)
11g.118480148delCA6303675KMT2Ac.3669-26del (n.3669-26del)
c.1152-26del (n.1152-26del)
c.1053-26del (n.1053-26del)
c.1377-26del (n.1377-26del)
c.551-26del
c.3570-26del (n.3570-26del)
c.822-26del (n.822-26del)
c.2340-26del (n.2340-26del)
c.1476-26del (n.1476-26del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480147T>CCA672347003KMT2Ac.3669-27T>C (n.3669-27T>C)
c.1152-27T>C (n.1152-27T>C)
c.1053-27T>C (n.1053-27T>C)
c.1377-27T>C (n.1377-27T>C)
c.551-27T>C
c.3570-27T>C (n.3570-27T>C)
c.822-27T>C (n.822-27T>C)
c.2340-27T>C (n.2340-27T>C)
c.1476-27T>C (n.1476-27T>C)
 dbSNP gnomAD v4
11g.118480147T=CA2003511949KMT2Ac.3669-27T= (n.3669-27T=)
c.1152-27T= (n.1152-27T=)
c.1053-27T= (n.1053-27T=)
c.1377-27T= (n.1377-27T=)
c.551-27T=
c.3570-27T= (n.3570-27T=)
c.822-27T= (n.822-27T=)
c.2340-27T= (n.2340-27T=)
c.1476-27T= (n.1476-27T=)
11g.118480148T>CCA2616261687KMT2Ac.3669-26T>C (n.3669-26T>C)
c.1152-26T>C (n.1152-26T>C)
c.1053-26T>C (n.1053-26T>C)
c.1377-26T>C (n.1377-26T>C)
c.551-26T>C
c.3570-26T>C (n.3570-26T>C)
c.822-26T>C (n.822-26T>C)
c.2340-26T>C (n.2340-26T>C)
c.1476-26T>C (n.1476-26T>C)
 gnomAD v4
11g.118480149C>ACA2616261688KMT2Ac.3669-25C>A (n.3669-25C>A)
c.1152-25C>A (n.1152-25C>A)
c.1053-25C>A (n.1053-25C>A)
c.1377-25C>A (n.1377-25C>A)
c.551-25C>A
c.3570-25C>A (n.3570-25C>A)
c.822-25C>A (n.822-25C>A)
c.2340-25C>A (n.2340-25C>A)
c.1476-25C>A (n.1476-25C>A)
 gnomAD v4
11g.118480149C=CA2003511950KMT2Ac.3669-25C= (n.3669-25C=)
c.1152-25C= (n.1152-25C=)
c.1053-25C= (n.1053-25C=)
c.1377-25C= (n.1377-25C=)
c.551-25C=
c.3570-25C= (n.3570-25C=)
c.822-25C= (n.822-25C=)
c.2340-25C= (n.2340-25C=)
c.1476-25C= (n.1476-25C=)
11g.118480149C>TCA229527072KMT2Ac.3669-25C>T (n.3669-25C>T)
c.1152-25C>T (n.1152-25C>T)
c.1053-25C>T (n.1053-25C>T)
c.1377-25C>T (n.1377-25C>T)
c.551-25C>T
c.3570-25C>T (n.3570-25C>T)
c.822-25C>T (n.822-25C>T)
c.2340-25C>T (n.2340-25C>T)
c.1476-25C>T (n.1476-25C>T)
 dbSNP gnomAD v4
11g.118480150A=CA2003511951KMT2Ac.3669-24A= (n.3669-24A=)
c.1152-24A= (n.1152-24A=)
c.1053-24A= (n.1053-24A=)
c.1377-24A= (n.1377-24A=)
c.551-24A=
c.3570-24A= (n.3570-24A=)
c.822-24A= (n.822-24A=)
c.2340-24A= (n.2340-24A=)
c.1476-24A= (n.1476-24A=)
11g.118480150A>GCA2003511952KMT2Ac.3669-24A>G (n.3669-24A>G)
c.1152-24A>G (n.1152-24A>G)
c.1053-24A>G (n.1053-24A>G)
c.1377-24A>G (n.1377-24A>G)
c.551-24A>G
c.3570-24A>G (n.3570-24A>G)
c.822-24A>G (n.822-24A>G)
c.2340-24A>G (n.2340-24A>G)
c.1476-24A>G (n.1476-24A>G)
 dbSNP gnomAD v4
11g.118480151T>CCA6303676KMT2Ac.3669-23T>C (n.3669-23T>C)
c.1152-23T>C (n.1152-23T>C)
c.1053-23T>C (n.1053-23T>C)
c.1377-23T>C (n.1377-23T>C)
c.551-23T>C
c.3570-23T>C (n.3570-23T>C)
c.822-23T>C (n.822-23T>C)
c.2340-23T>C (n.2340-23T>C)
c.1476-23T>C (n.1476-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480151T=CA2003511953KMT2Ac.3669-23T= (n.3669-23T=)
c.1152-23T= (n.1152-23T=)
c.1053-23T= (n.1053-23T=)
c.1377-23T= (n.1377-23T=)
c.551-23T=
c.3570-23T= (n.3570-23T=)
c.822-23T= (n.822-23T=)
c.2340-23T= (n.2340-23T=)
c.1476-23T= (n.1476-23T=)
11g.118480152G>ACA602140265KMT2Ac.3669-22G>A (n.3669-22G>A)
c.1152-22G>A (n.1152-22G>A)
c.1053-22G>A (n.1053-22G>A)
c.1377-22G>A (n.1377-22G>A)
c.551-22G>A
c.3570-22G>A (n.3570-22G>A)
c.822-22G>A (n.822-22G>A)
c.2340-22G>A (n.2340-22G>A)
c.1476-22G>A (n.1476-22G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480152G=CA2003511955KMT2Ac.3669-22G= (n.3669-22G=)
c.1152-22G= (n.1152-22G=)
c.1053-22G= (n.1053-22G=)
c.1377-22G= (n.1377-22G=)
c.551-22G=
c.3570-22G= (n.3570-22G=)
c.822-22G= (n.822-22G=)
c.2340-22G= (n.2340-22G=)
c.1476-22G= (n.1476-22G=)
11g.118480153G>ACA6303677KMT2Ac.3669-21G>A (n.3669-21G>A)
c.1152-21G>A (n.1152-21G>A)
c.1053-21G>A (n.1053-21G>A)
c.1377-21G>A (n.1377-21G>A)
c.551-21G>A
c.3570-21G>A (n.3570-21G>A)
c.822-21G>A (n.822-21G>A)
c.2340-21G>A (n.2340-21G>A)
c.1476-21G>A (n.1476-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480153G=CA2003511956KMT2Ac.3669-21G= (n.3669-21G=)
c.1152-21G= (n.1152-21G=)
c.1053-21G= (n.1053-21G=)
c.1377-21G= (n.1377-21G=)
c.551-21G=
c.3570-21G= (n.3570-21G=)
c.822-21G= (n.822-21G=)
c.2340-21G= (n.2340-21G=)
c.1476-21G= (n.1476-21G=)
11g.118480156delCA2616261689KMT2Ac.3669-18del (n.3669-18del)
c.1152-18del (n.1152-18del)
c.1053-18del (n.1053-18del)
c.1377-18del (n.1377-18del)
c.551-18del
c.3570-18del (n.3570-18del)
c.822-18del (n.822-18del)
c.2340-18del (n.2340-18del)
c.1476-18del (n.1476-18del)
 gnomAD v4
11g.118480157A>TCA2616261690KMT2Ac.3669-17A>T (n.3669-17A>T)
c.1152-17A>T (n.1152-17A>T)
c.1053-17A>T (n.1053-17A>T)
c.1377-17A>T (n.1377-17A>T)
c.551-17A>T
c.3570-17A>T (n.3570-17A>T)
c.822-17A>T (n.822-17A>T)
c.2340-17A>T (n.2340-17A>T)
c.1476-17A>T (n.1476-17A>T)
 gnomAD v4
11g.118480160C=CA2003511957KMT2Ac.3669-14C= (n.3669-14C=)
c.1152-14C= (n.1152-14C=)
c.1053-14C= (n.1053-14C=)
c.1377-14C= (n.1377-14C=)
c.551-14C=
c.3570-14C= (n.3570-14C=)
c.822-14C= (n.822-14C=)
c.2340-14C= (n.2340-14C=)
c.1476-14C= (n.1476-14C=)
11g.118480160C>TCA6303678KMT2Ac.3669-14C>T (n.3669-14C>T)
c.1152-14C>T (n.1152-14C>T)
c.1053-14C>T (n.1053-14C>T)
c.1377-14C>T (n.1377-14C>T)
c.551-14C>T
c.3570-14C>T (n.3570-14C>T)
c.822-14C>T (n.822-14C>T)
c.2340-14C>T (n.2340-14C>T)
c.1476-14C>T (n.1476-14C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480161G>ACA602140266KMT2Ac.3669-13G>A (n.3669-13G>A)
c.1152-13G>A (n.1152-13G>A)
c.1053-13G>A (n.1053-13G>A)
c.1377-13G>A (n.1377-13G>A)
c.551-13G>A
c.3570-13G>A (n.3570-13G>A)
c.822-13G>A (n.822-13G>A)
c.2340-13G>A (n.2340-13G>A)
c.1476-13G>A (n.1476-13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118480161G>CCA2724977007KMT2Ac.3669-13G>C (n.3669-13G>C)
c.1152-13G>C (n.1152-13G>C)
c.1053-13G>C (n.1053-13G>C)
c.1377-13G>C (n.1377-13G>C)
c.551-13G>C
c.3570-13G>C (n.3570-13G>C)
c.822-13G>C (n.822-13G>C)
c.2340-13G>C (n.2340-13G>C)
c.1476-13G>C (n.1476-13G>C)
 dbSNP
11g.118480161G=CA2003511958KMT2Ac.3669-13G= (n.3669-13G=)
c.1152-13G= (n.1152-13G=)
c.1053-13G= (n.1053-13G=)
c.1377-13G= (n.1377-13G=)
c.551-13G=
c.3570-13G= (n.3570-13G=)
c.822-13G= (n.822-13G=)
c.2340-13G= (n.2340-13G=)
c.1476-13G= (n.1476-13G=)
11g.118480161G>TCA2616261691KMT2Ac.3669-13G>T (n.3669-13G>T)
c.1152-13G>T (n.1152-13G>T)
c.1053-13G>T (n.1053-13G>T)
c.1377-13G>T (n.1377-13G>T)
c.551-13G>T
c.3570-13G>T (n.3570-13G>T)
c.822-13G>T (n.822-13G>T)
c.2340-13G>T (n.2340-13G>T)
c.1476-13G>T (n.1476-13G>T)
 gnomAD v4
11g.118480162T>CCA942722083KMT2Ac.3669-12T>C (n.3669-12T>C)
c.1152-12T>C (n.1152-12T>C)
c.1053-12T>C (n.1053-12T>C)
c.1377-12T>C (n.1377-12T>C)
c.551-12T>C
c.3570-12T>C (n.3570-12T>C)
c.822-12T>C (n.822-12T>C)
c.2340-12T>C (n.2340-12T>C)
c.1476-12T>C (n.1476-12T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.118480162T=CA2003511959KMT2Ac.3669-12T= (n.3669-12T=)
c.1152-12T= (n.1152-12T=)
c.1053-12T= (n.1053-12T=)
c.1377-12T= (n.1377-12T=)
c.551-12T=
c.3570-12T= (n.3570-12T=)
c.822-12T= (n.822-12T=)
c.2340-12T= (n.2340-12T=)
c.1476-12T= (n.1476-12T=)
11g.118480164G>CCA2616261692KMT2Ac.3669-10G>C (n.3669-10G>C)
c.1152-10G>C (n.1152-10G>C)
c.1053-10G>C (n.1053-10G>C)
c.1377-10G>C (n.1377-10G>C)
c.551-10G>C
c.3570-10G>C (n.3570-10G>C)
c.822-10G>C (n.822-10G>C)
c.2340-10G>C (n.2340-10G>C)
c.1476-10G>C (n.1476-10G>C)
 dbSNP gnomAD v4
11g.118480167T>ACA6303679KMT2Ac.3669-7T>A (n.3669-7T>A)
c.1152-7T>A (n.1152-7T>A)
c.1053-7T>A (n.1053-7T>A)
c.1377-7T>A (n.1377-7T>A)
c.551-7T>A
c.3570-7T>A (n.3570-7T>A)
c.822-7T>A (n.822-7T>A)
c.2340-7T>A (n.2340-7T>A)
c.1476-7T>A (n.1476-7T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480167T=CA2003511960KMT2Ac.3669-7T= (n.3669-7T=)
c.1152-7T= (n.1152-7T=)
c.1053-7T= (n.1053-7T=)
c.1377-7T= (n.1377-7T=)
c.551-7T=
c.3570-7T= (n.3570-7T=)
c.822-7T= (n.822-7T=)
c.2340-7T= (n.2340-7T=)
c.1476-7T= (n.1476-7T=)
11g.118480168T>CCA2616261693KMT2Ac.3669-6T>C (n.3669-6T>C)
c.1152-6T>C (n.1152-6T>C)
c.1053-6T>C (n.1053-6T>C)
c.1377-6T>C (n.1377-6T>C)
c.551-6T>C
c.3570-6T>C (n.3570-6T>C)
c.822-6T>C (n.822-6T>C)
c.2340-6T>C (n.2340-6T>C)
c.1476-6T>C (n.1476-6T>C)
 gnomAD v4
11g.118480169C=CA2003511961KMT2Ac.3669-5C= (n.3669-5C=)
c.1152-5C= (n.1152-5C=)
c.1053-5C= (n.1053-5C=)
c.1377-5C= (n.1377-5C=)
c.551-5C=
c.3570-5C= (n.3570-5C=)
c.822-5C= (n.822-5C=)
c.2340-5C= (n.2340-5C=)
c.1476-5C= (n.1476-5C=)
11g.118480169C>TCA645589849KMT2Ac.3669-5C>T (n.3669-5C>T)
c.1152-5C>T (n.1152-5C>T)
c.1053-5C>T (n.1053-5C>T)
c.1377-5C>T (n.1377-5C>T)
c.551-5C>T
c.3570-5C>T (n.3570-5C>T)
c.822-5C>T (n.822-5C>T)
c.2340-5C>T (n.2340-5C>T)
c.1476-5C>T (n.1476-5C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
11g.118480172A=CA2003511966KMT2Ac.3669-2A= (n.3669-2A=)
c.1152-2A= (n.1152-2A=)
c.1053-2A= (n.1053-2A=)
c.1377-2A= (n.1377-2A=)
c.551-2A=
c.3570-2A= (n.3570-2A=)
c.822-2A= (n.822-2A=)
c.2340-2A= (n.2340-2A=)
c.1476-2A= (n.1476-2A=)
11g.118480172A>CCA382826175KMT2Ac.3669-2A>C (n.3669-2A>C)
c.1152-2A>C (n.1152-2A>C)
c.1053-2A>C (n.1053-2A>C)
c.1377-2A>C (n.1377-2A>C)
c.551-2A>C
c.3570-2A>C (n.3570-2A>C)
c.822-2A>C (n.822-2A>C)
c.2340-2A>C (n.2340-2A>C)
c.1476-2A>C (n.1476-2A>C)
11g.118480172A>GCA382826176KMT2Ac.3669-2A>G (n.3669-2A>G)
c.1152-2A>G (n.1152-2A>G)
c.1053-2A>G (n.1053-2A>G)
c.1377-2A>G (n.1377-2A>G)
c.551-2A>G
c.3570-2A>G (n.3570-2A>G)
c.822-2A>G (n.822-2A>G)
c.2340-2A>G (n.2340-2A>G)
c.1476-2A>G (n.1476-2A>G)
 ClinVar dbSNP
11g.118480172A>TCA382826179KMT2Ac.3669-2A>T (n.3669-2A>T)
c.1152-2A>T (n.1152-2A>T)
c.1053-2A>T (n.1053-2A>T)
c.1377-2A>T (n.1377-2A>T)
c.551-2A>T
c.3570-2A>T (n.3570-2A>T)
c.822-2A>T (n.822-2A>T)
c.2340-2A>T (n.2340-2A>T)
c.1476-2A>T (n.1476-2A>T)
11g.118480173G>ACA382826182KMT2Ac.3669-1G>A (n.3669-1G>A)
c.1152-1G>A (n.1152-1G>A)
c.1053-1G>A (n.1053-1G>A)
c.1377-1G>A (n.1377-1G>A)
c.551-1G>A
c.3570-1G>A (n.3570-1G>A)
c.822-1G>A (n.822-1G>A)
c.2340-1G>A (n.2340-1G>A)
c.1476-1G>A (n.1476-1G>A)
11g.118480173G>CCA382826185KMT2Ac.3669-1G>C (n.3669-1G>C)
c.1152-1G>C (n.1152-1G>C)
c.1053-1G>C (n.1053-1G>C)
c.1377-1G>C (n.1377-1G>C)
c.551-1G>C
c.3570-1G>C (n.3570-1G>C)
c.822-1G>C (n.822-1G>C)
c.2340-1G>C (n.2340-1G>C)
c.1476-1G>C (n.1476-1G>C)
11g.118480173G>TCA382826187KMT2Ac.3669-1G>T (n.3669-1G>T)
c.1152-1G>T (n.1152-1G>T)
c.1053-1G>T (n.1053-1G>T)
c.1377-1G>T (n.1377-1G>T)
c.551-1G>T
c.3570-1G>T (n.3570-1G>T)
c.822-1G>T (n.822-1G>T)
c.2340-1G>T (n.2340-1G>T)
c.1476-1G>T (n.1476-1G>T)
11g.118480174G>ACA6303680KMT2Ac.3669G>A (p.Lys1223=)
c.1152G>A (p.Lys384=)
c.1053G>A (p.Lys351=)
c.1377G>A (p.Lys459=)
c.551G>A
c.3570G>A (p.Lys1190=)
c.822G>A (p.Lys274=)
c.2340G>A (p.Lys780=)
c.1476G>A (p.Lys492=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480174G>CCA382826191KMT2Ac.3669G>C (p.Lys1223Asn)
c.1152G>C (p.Lys384Asn)
c.1053G>C (p.Lys351Asn)
c.1377G>C (p.Lys459Asn)
c.551G>C
c.3570G>C (p.Lys1190Asn)
c.822G>C (p.Lys274Asn)
c.2340G>C (p.Lys780Asn)
c.1476G>C (p.Lys492Asn)
11g.118480174G=CA2003511970KMT2Ac.3669G= (p.Lys1223=)
c.1152G= (p.Lys384=)
c.1053G= (p.Lys351=)
c.1377G= (p.Lys459=)
c.551G=
c.3570G= (p.Lys1190=)
c.822G= (p.Lys274=)
c.2340G= (p.Lys780=)
c.1476G= (p.Lys492=)
11g.118480174G>TCA382826194KMT2Ac.3669G>T (p.Lys1223Asn)
c.1152G>T (p.Lys384Asn)
c.1053G>T (p.Lys351Asn)
c.1377G>T (p.Lys459Asn)
c.551G>T
c.3570G>T (p.Lys1190Asn)
c.822G>T (p.Lys274Asn)
c.2340G>T (p.Lys780Asn)
c.1476G>T (p.Lys492Asn)
11g.118480175A=CA2003511973KMT2Ac.3670A= (p.Met1224=)
c.1153A= (p.Met385=)
c.1054A= (p.Met352=)
c.1378A= (p.Met460=)
c.552A=
c.3571A= (p.Met1191=)
c.823A= (p.Met275=)
c.2341A= (p.Met781=)
c.1477A= (p.Met493=)
11g.118480175A>CCA382826199KMT2Ac.3670A>C (p.Met1224Leu)
c.1153A>C (p.Met385Leu)
c.1054A>C (p.Met352Leu)
c.1378A>C (p.Met460Leu)
c.552A>C
c.3571A>C (p.Met1191Leu)
c.823A>C (p.Met275Leu)
c.2341A>C (p.Met781Leu)
c.1477A>C (p.Met493Leu)
11g.118480175A>GCA6303681KMT2Ac.3670A>G (p.Met1224Val)
c.1153A>G (p.Met385Val)
c.1054A>G (p.Met352Val)
c.1378A>G (p.Met460Val)
c.552A>G
c.3571A>G (p.Met1191Val)
c.823A>G (p.Met275Val)
c.2341A>G (p.Met781Val)
c.1477A>G (p.Met493Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480175A>TCA382826202KMT2Ac.3670A>T (p.Met1224Leu)
c.1153A>T (p.Met385Leu)
c.1054A>T (p.Met352Leu)
c.1378A>T (p.Met460Leu)
c.552A>T
c.3571A>T (p.Met1191Leu)
c.823A>T (p.Met275Leu)
c.2341A>T (p.Met781Leu)
c.1477A>T (p.Met493Leu)
11g.118480176T>ACA382826206KMT2Ac.3671T>A (p.Met1224Lys)
c.1154T>A (p.Met385Lys)
c.1055T>A (p.Met352Lys)
c.1379T>A (p.Met460Lys)
c.553T>A
c.3572T>A (p.Met1191Lys)
c.824T>A (p.Met275Lys)
c.2342T>A (p.Met781Lys)
c.1478T>A (p.Met493Lys)
11g.118480176T>CCA382826207KMT2Ac.3671T>C (p.Met1224Thr)
c.1154T>C (p.Met385Thr)
c.1055T>C (p.Met352Thr)
c.1379T>C (p.Met460Thr)
c.553T>C
c.3572T>C (p.Met1191Thr)
c.824T>C (p.Met275Thr)
c.2342T>C (p.Met781Thr)
c.1478T>C (p.Met493Thr)
11g.118480176T>GCA382826209KMT2Ac.3671T>G (p.Met1224Arg)
c.1154T>G (p.Met385Arg)
c.1055T>G (p.Met352Arg)
c.1379T>G (p.Met460Arg)
c.553T>G
c.3572T>G (p.Met1191Arg)
c.824T>G (p.Met275Arg)
c.2342T>G (p.Met781Arg)
c.1478T>G (p.Met493Arg)
 gnomAD v4
11g.118480177G>ACA382826211KMT2Ac.3672G>A (p.Met1224Ile)
c.1155G>A (p.Met385Ile)
c.1056G>A (p.Met352Ile)
c.1380G>A (p.Met460Ile)
c.554G>A
c.3573G>A (p.Met1191Ile)
c.825G>A (p.Met275Ile)
c.2343G>A (p.Met781Ile)
c.1479G>A (p.Met493Ile)
 ClinVar dbSNP gnomAD v4
11g.118480177G>CCA382826214KMT2Ac.3672G>C (p.Met1224Ile)
c.1155G>C (p.Met385Ile)
c.1056G>C (p.Met352Ile)
c.1380G>C (p.Met460Ile)
c.554G>C
c.3573G>C (p.Met1191Ile)
c.825G>C (p.Met275Ile)
c.2343G>C (p.Met781Ile)
c.1479G>C (p.Met493Ile)
11g.118480177G=CA2003511975KMT2Ac.3672G= (p.Met1224=)
c.1155G= (p.Met385=)
c.1056G= (p.Met352=)
c.1380G= (p.Met460=)
c.554G=
c.3573G= (p.Met1191=)
c.825G= (p.Met275=)
c.2343G= (p.Met781=)
c.1479G= (p.Met493=)
11g.118480177G>TCA382826216KMT2Ac.3672G>T (p.Met1224Ile)
c.1155G>T (p.Met385Ile)
c.1056G>T (p.Met352Ile)
c.1380G>T (p.Met460Ile)
c.554G>T
c.3573G>T (p.Met1191Ile)
c.825G>T (p.Met275Ile)
c.2343G>T (p.Met781Ile)
c.1479G>T (p.Met493Ile)
11g.118480178A>CCA477088689KMT2Ac.3673A>C (p.Arg1225=)
c.1156A>C (p.Arg386=)
c.1057A>C (p.Arg353=)
c.1381A>C (p.Arg461=)
c.555A>C
c.3574A>C (p.Arg1192=)
c.826A>C (p.Arg276=)
c.2344A>C (p.Arg782=)
c.1480A>C (p.Arg494=)
11g.118480178A>GCA382826218KMT2Ac.3673A>G (p.Arg1225Gly)
c.1156A>G (p.Arg386Gly)
c.1057A>G (p.Arg353Gly)
c.1381A>G (p.Arg461Gly)
c.555A>G
c.3574A>G (p.Arg1192Gly)
c.826A>G (p.Arg276Gly)
c.2344A>G (p.Arg782Gly)
c.1480A>G (p.Arg494Gly)
11g.118480178A>TCA382826221KMT2Ac.3673A>T (p.Arg1225Ter)
c.1156A>T (p.Arg386Ter)
c.1057A>T (p.Arg353Ter)
c.1381A>T (p.Arg461Ter)
c.555A>T
c.3574A>T (p.Arg1192Ter)
c.826A>T (p.Arg276Ter)
c.2344A>T (p.Arg782Ter)
c.1480A>T (p.Arg494Ter)
11g.118480179G>ACA382826224KMT2Ac.3674G>A (p.Arg1225Lys)
c.1157G>A (p.Arg386Lys)
c.1058G>A (p.Arg353Lys)
c.1382G>A (p.Arg461Lys)
c.556G>A
c.3575G>A (p.Arg1192Lys)
c.827G>A (p.Arg276Lys)
c.2345G>A (p.Arg782Lys)
c.1481G>A (p.Arg494Lys)
11g.118480179G>CCA382826225KMT2Ac.3674G>C (p.Arg1225Thr)
c.1157G>C (p.Arg386Thr)
c.1058G>C (p.Arg353Thr)
c.1382G>C (p.Arg461Thr)
c.556G>C
c.3575G>C (p.Arg1192Thr)
c.827G>C (p.Arg276Thr)
c.2345G>C (p.Arg782Thr)
c.1481G>C (p.Arg494Thr)
11g.118480179G>TCA382826226KMT2Ac.3674G>T (p.Arg1225Ile)
c.1157G>T (p.Arg386Ile)
c.1058G>T (p.Arg353Ile)
c.1382G>T (p.Arg461Ile)
c.556G>T
c.3575G>T (p.Arg1192Ile)
c.827G>T (p.Arg276Ile)
c.2345G>T (p.Arg782Ile)
c.1481G>T (p.Arg494Ile)
11g.118480180A=CA2003511981KMT2Ac.3675A= (p.Arg1225=)
c.1158A= (p.Arg386=)
c.1059A= (p.Arg353=)
c.1383A= (p.Arg461=)
c.557A=
c.3576A= (p.Arg1192=)
c.828A= (p.Arg276=)
c.2346A= (p.Arg782=)
c.1482A= (p.Arg494=)
11g.118480180A>CCA382826230KMT2Ac.3675A>C (p.Arg1225Ser)
c.1158A>C (p.Arg386Ser)
c.1059A>C (p.Arg353Ser)
c.1383A>C (p.Arg461Ser)
c.557A>C
c.3576A>C (p.Arg1192Ser)
c.828A>C (p.Arg276Ser)
c.2346A>C (p.Arg782Ser)
c.1482A>C (p.Arg494Ser)
11g.118480180A>GCA477088693KMT2Ac.3675A>G (p.Arg1225=)
c.1158A>G (p.Arg386=)
c.1059A>G (p.Arg353=)
c.1383A>G (p.Arg461=)
c.557A>G
c.3576A>G (p.Arg1192=)
c.828A>G (p.Arg276=)
c.2346A>G (p.Arg782=)
c.1482A>G (p.Arg494=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480180A>TCA382826233KMT2Ac.3675A>T (p.Arg1225Ser)
c.1158A>T (p.Arg386Ser)
c.1059A>T (p.Arg353Ser)
c.1383A>T (p.Arg461Ser)
c.557A>T
c.3576A>T (p.Arg1192Ser)
c.828A>T (p.Arg276Ser)
c.2346A>T (p.Arg782Ser)
c.1482A>T (p.Arg494Ser)
11g.118480181A>CCA382826243KMT2Ac.3676A>C (p.Lys1226Gln)
c.1159A>C (p.Lys387Gln)
c.1060A>C (p.Lys354Gln)
c.1384A>C (p.Lys462Gln)
c.558A>C
c.3577A>C (p.Lys1193Gln)
c.829A>C (p.Lys277Gln)
c.2347A>C (p.Lys783Gln)
c.1483A>C (p.Lys495Gln)
11g.118480181A>GCA382826245KMT2Ac.3676A>G (p.Lys1226Glu)
c.1159A>G (p.Lys387Glu)
c.1060A>G (p.Lys354Glu)
c.1384A>G (p.Lys462Glu)
c.558A>G
c.3577A>G (p.Lys1193Glu)
c.829A>G (p.Lys277Glu)
c.2347A>G (p.Lys783Glu)
c.1483A>G (p.Lys495Glu)
11g.118480181A>TCA382826248KMT2Ac.3676A>T (p.Lys1226Ter)
c.1159A>T (p.Lys387Ter)
c.1060A>T (p.Lys354Ter)
c.1384A>T (p.Lys462Ter)
c.558A>T
c.3577A>T (p.Lys1193Ter)
c.829A>T (p.Lys277Ter)
c.2347A>T (p.Lys783Ter)
c.1483A>T (p.Lys495Ter)
11g.118480182A>CCA382826251KMT2Ac.3677A>C (p.Lys1226Thr)
c.1160A>C (p.Lys387Thr)
c.1061A>C (p.Lys354Thr)
c.1385A>C (p.Lys462Thr)
c.559A>C
c.3578A>C (p.Lys1193Thr)
c.830A>C (p.Lys277Thr)
c.2348A>C (p.Lys783Thr)
c.1484A>C (p.Lys495Thr)
11g.118480182A>GCA382826253KMT2Ac.3677A>G (p.Lys1226Arg)
c.1160A>G (p.Lys387Arg)
c.1061A>G (p.Lys354Arg)
c.1385A>G (p.Lys462Arg)
c.559A>G
c.3578A>G (p.Lys1193Arg)
c.830A>G (p.Lys277Arg)
c.2348A>G (p.Lys783Arg)
c.1484A>G (p.Lys495Arg)
11g.118480182A>TCA382826257KMT2Ac.3677A>T (p.Lys1226Ile)
c.1160A>T (p.Lys387Ile)
c.1061A>T (p.Lys354Ile)
c.1385A>T (p.Lys462Ile)
c.559A>T
c.3578A>T (p.Lys1193Ile)
c.830A>T (p.Lys277Ile)
c.2348A>T (p.Lys783Ile)
c.1484A>T (p.Lys495Ile)
11g.118480183A>CCA382826259KMT2Ac.3678A>C (p.Lys1226Asn)
c.1161A>C (p.Lys387Asn)
c.1062A>C (p.Lys354Asn)
c.1386A>C (p.Lys462Asn)
c.560A>C
c.3579A>C (p.Lys1193Asn)
c.831A>C (p.Lys277Asn)
c.2349A>C (p.Lys783Asn)
c.1485A>C (p.Lys495Asn)
11g.118480183A>GCA477088698KMT2Ac.3678A>G (p.Lys1226=)
c.1161A>G (p.Lys387=)
c.1062A>G (p.Lys354=)
c.1386A>G (p.Lys462=)
c.560A>G
c.3579A>G (p.Lys1193=)
c.831A>G (p.Lys277=)
c.2349A>G (p.Lys783=)
c.1485A>G (p.Lys495=)
11g.118480183A>TCA382826262KMT2Ac.3678A>T (p.Lys1226Asn)
c.1161A>T (p.Lys387Asn)
c.1062A>T (p.Lys354Asn)
c.1386A>T (p.Lys462Asn)
c.560A>T
c.3579A>T (p.Lys1193Asn)
c.831A>T (p.Lys277Asn)
c.2349A>T (p.Lys783Asn)
c.1485A>T (p.Lys495Asn)
11g.118480184T>ACA382826266KMT2Ac.3679T>A (p.Cys1227Ser)
c.1162T>A (p.Cys388Ser)
c.1063T>A (p.Cys355Ser)
c.1387T>A (p.Cys463Ser)
c.561T>A
c.3580T>A (p.Cys1194Ser)
c.832T>A (p.Cys278Ser)
c.2350T>A (p.Cys784Ser)
c.1486T>A (p.Cys496Ser)
11g.118480184T>CCA382826267KMT2Ac.3679T>C (p.Cys1227Arg)
c.1162T>C (p.Cys388Arg)
c.1063T>C (p.Cys355Arg)
c.1387T>C (p.Cys463Arg)
c.561T>C
c.3580T>C (p.Cys1194Arg)
c.832T>C (p.Cys278Arg)
c.2350T>C (p.Cys784Arg)
c.1486T>C (p.Cys496Arg)
11g.118480184T>GCA382826269KMT2Ac.3679T>G (p.Cys1227Gly)
c.1162T>G (p.Cys388Gly)
c.1063T>G (p.Cys355Gly)
c.1387T>G (p.Cys463Gly)
c.561T>G
c.3580T>G (p.Cys1194Gly)
c.832T>G (p.Cys278Gly)
c.2350T>G (p.Cys784Gly)
c.1486T>G (p.Cys496Gly)
11g.118480185G>ACA382826277KMT2Ac.3680G>A (p.Cys1227Tyr)
c.1163G>A (p.Cys388Tyr)
c.1064G>A (p.Cys355Tyr)
c.1388G>A (p.Cys463Tyr)
c.562G>A
c.3581G>A (p.Cys1194Tyr)
c.833G>A (p.Cys278Tyr)
c.2351G>A (p.Cys784Tyr)
c.1487G>A (p.Cys496Tyr)
 ClinVar dbSNP
11g.118480185G>CCA382826275KMT2Ac.3680G>C (p.Cys1227Ser)
c.1163G>C (p.Cys388Ser)
c.1064G>C (p.Cys355Ser)
c.1388G>C (p.Cys463Ser)
c.562G>C
c.3581G>C (p.Cys1194Ser)
c.833G>C (p.Cys278Ser)
c.2351G>C (p.Cys784Ser)
c.1487G>C (p.Cys496Ser)
11g.118480185G=CA2003511986KMT2Ac.3680G= (p.Cys1227=)
c.1163G= (p.Cys388=)
c.1064G= (p.Cys355=)
c.1388G= (p.Cys463=)
c.562G=
c.3581G= (p.Cys1194=)
c.833G= (p.Cys278=)
c.2351G= (p.Cys784=)
c.1487G= (p.Cys496=)
11g.118480185G>TCA382826272KMT2Ac.3680G>T (p.Cys1227Phe)
c.1163G>T (p.Cys388Phe)
c.1064G>T (p.Cys355Phe)
c.1388G>T (p.Cys463Phe)
c.562G>T
c.3581G>T (p.Cys1194Phe)
c.833G>T (p.Cys278Phe)
c.2351G>T (p.Cys784Phe)
c.1487G>T (p.Cys496Phe)
11g.118480186T>ACA382826279KMT2Ac.3681T>A (p.Cys1227Ter)
c.1164T>A (p.Cys388Ter)
c.1065T>A (p.Cys355Ter)
c.1389T>A (p.Cys463Ter)
c.563T>A
c.3582T>A (p.Cys1194Ter)
c.834T>A (p.Cys278Ter)
c.2352T>A (p.Cys784Ter)
c.1488T>A (p.Cys496Ter)
11g.118480186T>CCA477088702KMT2Ac.3681T>C (p.Cys1227=)
c.1164T>C (p.Cys388=)
c.1065T>C (p.Cys355=)
c.1389T>C (p.Cys463=)
c.563T>C
c.3582T>C (p.Cys1194=)
c.834T>C (p.Cys278=)
c.2352T>C (p.Cys784=)
c.1488T>C (p.Cys496=)
11g.118480186T>GCA382826282KMT2Ac.3681T>G (p.Cys1227Trp)
c.1164T>G (p.Cys388Trp)
c.1065T>G (p.Cys355Trp)
c.1389T>G (p.Cys463Trp)
c.563T>G
c.3582T>G (p.Cys1194Trp)
c.834T>G (p.Cys278Trp)
c.2352T>G (p.Cys784Trp)
c.1488T>G (p.Cys496Trp)
11g.118480187C>ACA382826284KMT2Ac.3682C>A (p.Gln1228Lys)
c.1165C>A (p.Gln389Lys)
c.1066C>A (p.Gln356Lys)
c.1390C>A (p.Gln464Lys)
c.564C>A
c.3583C>A (p.Gln1195Lys)
c.835C>A (p.Gln279Lys)
c.2353C>A (p.Gln785Lys)
c.1489C>A (p.Gln497Lys)
11g.118480187C>GCA382826286KMT2Ac.3682C>G (p.Gln1228Glu)
c.1165C>G (p.Gln389Glu)
c.1066C>G (p.Gln356Glu)
c.1390C>G (p.Gln464Glu)
c.564C>G
c.3583C>G (p.Gln1195Glu)
c.835C>G (p.Gln279Glu)
c.2353C>G (p.Gln785Glu)
c.1489C>G (p.Gln497Glu)
11g.118480187C>TCA382826287KMT2Ac.3682C>T (p.Gln1228Ter)
c.1165C>T (p.Gln389Ter)
c.1066C>T (p.Gln356Ter)
c.1390C>T (p.Gln464Ter)
c.564C>T
c.3583C>T (p.Gln1195Ter)
c.835C>T (p.Gln279Ter)
c.2353C>T (p.Gln785Ter)
c.1489C>T (p.Gln497Ter)
 COSMIC COSMIC
11g.118480188A>CCA382826289KMT2Ac.3683A>C (p.Gln1228Pro)
c.1166A>C (p.Gln389Pro)
c.1067A>C (p.Gln356Pro)
c.1391A>C (p.Gln464Pro)
c.565A>C
c.3584A>C (p.Gln1195Pro)
c.836A>C (p.Gln279Pro)
c.2354A>C (p.Gln785Pro)
c.1490A>C (p.Gln497Pro)
11g.118480188A>GCA382826291KMT2Ac.3683A>G (p.Gln1228Arg)
c.1166A>G (p.Gln389Arg)
c.1067A>G (p.Gln356Arg)
c.1391A>G (p.Gln464Arg)
c.565A>G
c.3584A>G (p.Gln1195Arg)
c.836A>G (p.Gln279Arg)
c.2354A>G (p.Gln785Arg)
c.1490A>G (p.Gln497Arg)
11g.118480188A>TCA382826294KMT2Ac.3683A>T (p.Gln1228Leu)
c.1166A>T (p.Gln389Leu)
c.1067A>T (p.Gln356Leu)
c.1391A>T (p.Gln464Leu)
c.565A>T
c.3584A>T (p.Gln1195Leu)
c.836A>T (p.Gln279Leu)
c.2354A>T (p.Gln785Leu)
c.1490A>T (p.Gln497Leu)
11g.118480189G>ACA477088708KMT2Ac.3684G>A (p.Gln1228=)
c.1167G>A (p.Gln389=)
c.1068G>A (p.Gln356=)
c.1392G>A (p.Gln464=)
c.566G>A
c.3585G>A (p.Gln1195=)
c.837G>A (p.Gln279=)
c.2355G>A (p.Gln785=)
c.1491G>A (p.Gln497=)
 gnomAD v4
11g.118480189G>CCA382826297KMT2Ac.3684G>C (p.Gln1228His)
c.1167G>C (p.Gln389His)
c.1068G>C (p.Gln356His)
c.1392G>C (p.Gln464His)
c.566G>C
c.3585G>C (p.Gln1195His)
c.837G>C (p.Gln279His)
c.2355G>C (p.Gln785His)
c.1491G>C (p.Gln497His)
11g.118480189G>TCA382826299KMT2Ac.3684G>T (p.Gln1228His)
c.1167G>T (p.Gln389His)
c.1068G>T (p.Gln356His)
c.1392G>T (p.Gln464His)
c.566G>T
c.3585G>T (p.Gln1195His)
c.837G>T (p.Gln279His)
c.2355G>T (p.Gln785His)
c.1491G>T (p.Gln497His)
11g.118480190A>CCA382826303KMT2Ac.3685A>C (p.Asn1229His)
c.1168A>C (p.Asn390His)
c.1069A>C (p.Asn357His)
c.1393A>C (p.Asn465His)
c.567A>C
c.3586A>C (p.Asn1196His)
c.838A>C (p.Asn280His)
c.2356A>C (p.Asn786His)
c.1492A>C (p.Asn498His)
11g.118480190A>GCA382826306KMT2Ac.3685A>G (p.Asn1229Asp)
c.1168A>G (p.Asn390Asp)
c.1069A>G (p.Asn357Asp)
c.1393A>G (p.Asn465Asp)
c.567A>G
c.3586A>G (p.Asn1196Asp)
c.838A>G (p.Asn280Asp)
c.2356A>G (p.Asn786Asp)
c.1492A>G (p.Asn498Asp)
11g.118480190A>TCA382826307KMT2Ac.3685A>T (p.Asn1229Tyr)
c.1168A>T (p.Asn390Tyr)
c.1069A>T (p.Asn357Tyr)
c.1393A>T (p.Asn465Tyr)
c.567A>T
c.3586A>T (p.Asn1196Tyr)
c.838A>T (p.Asn280Tyr)
c.2356A>T (p.Asn786Tyr)
c.1492A>T (p.Asn498Tyr)
11g.118480191A>CCA382826315KMT2Ac.3686A>C (p.Asn1229Thr)
c.1169A>C (p.Asn390Thr)
c.1070A>C (p.Asn357Thr)
c.1394A>C (p.Asn465Thr)
c.568A>C
c.3587A>C (p.Asn1196Thr)
c.839A>C (p.Asn280Thr)
c.2357A>C (p.Asn786Thr)
c.1493A>C (p.Asn498Thr)
11g.118480191A>GCA382826318KMT2Ac.3686A>G (p.Asn1229Ser)
c.1169A>G (p.Asn390Ser)
c.1070A>G (p.Asn357Ser)
c.1394A>G (p.Asn465Ser)
c.568A>G
c.3587A>G (p.Asn1196Ser)
c.839A>G (p.Asn280Ser)
c.2357A>G (p.Asn786Ser)
c.1493A>G (p.Asn498Ser)
11g.118480191A>TCA382826312KMT2Ac.3686A>T (p.Asn1229Ile)
c.1169A>T (p.Asn390Ile)
c.1070A>T (p.Asn357Ile)
c.1394A>T (p.Asn465Ile)
c.568A>T
c.3587A>T (p.Asn1196Ile)
c.839A>T (p.Asn280Ile)
c.2357A>T (p.Asn786Ile)
c.1493A>T (p.Asn498Ile)
11g.118480192T>ACA382826323KMT2Ac.3687T>A (p.Asn1229Lys)
c.1170T>A (p.Asn390Lys)
c.1071T>A (p.Asn357Lys)
c.1395T>A (p.Asn465Lys)
c.569T>A
c.3588T>A (p.Asn1196Lys)
c.840T>A (p.Asn280Lys)
c.2358T>A (p.Asn786Lys)
c.1494T>A (p.Asn498Lys)
11g.118480192T>CCA477088713KMT2Ac.3687T>C (p.Asn1229=)
c.1170T>C (p.Asn390=)
c.1071T>C (p.Asn357=)
c.1395T>C (p.Asn465=)
c.569T>C
c.3588T>C (p.Asn1196=)
c.840T>C (p.Asn280=)
c.2358T>C (p.Asn786=)
c.1494T>C (p.Asn498=)
11g.118480192T>GCA382826320KMT2Ac.3687T>G (p.Asn1229Lys)
c.1170T>G (p.Asn390Lys)
c.1071T>G (p.Asn357Lys)
c.1395T>G (p.Asn465Lys)
c.569T>G
c.3588T>G (p.Asn1196Lys)
c.840T>G (p.Asn280Lys)
c.2358T>G (p.Asn786Lys)
c.1494T>G (p.Asn498Lys)
11g.118480193C>ACA382826326KMT2Ac.3688C>A (p.Leu1230Ile)
c.1171C>A (p.Leu391Ile)
c.1072C>A (p.Leu358Ile)
c.1396C>A (p.Leu466Ile)
c.570C>A
c.3589C>A (p.Leu1197Ile)
c.841C>A (p.Leu281Ile)
c.2359C>A (p.Leu787Ile)
c.1495C>A (p.Leu499Ile)
11g.118480193C>GCA382826329KMT2Ac.3688C>G (p.Leu1230Val)
c.1171C>G (p.Leu391Val)
c.1072C>G (p.Leu358Val)
c.1396C>G (p.Leu466Val)
c.570C>G
c.3589C>G (p.Leu1197Val)
c.841C>G (p.Leu281Val)
c.2359C>G (p.Leu787Val)
c.1495C>G (p.Leu499Val)
11g.118480193C>TCA477088715KMT2Ac.3688C>T (p.Leu1230=)
c.1171C>T (p.Leu391=)
c.1072C>T (p.Leu358=)
c.1396C>T (p.Leu466=)
c.570C>T
c.3589C>T (p.Leu1197=)
c.841C>T (p.Leu281=)
c.2359C>T (p.Leu787=)
c.1495C>T (p.Leu499=)
11g.118480194T>ACA382826333KMT2Ac.3689T>A (p.Leu1230Gln)
c.1172T>A (p.Leu391Gln)
c.1073T>A (p.Leu358Gln)
c.1397T>A (p.Leu466Gln)
c.571T>A
c.3590T>A (p.Leu1197Gln)
c.842T>A (p.Leu281Gln)
c.2360T>A (p.Leu787Gln)
c.1496T>A (p.Leu499Gln)
11g.118480194T>CCA382826336KMT2Ac.3689T>C (p.Leu1230Pro)
c.1172T>C (p.Leu391Pro)
c.1073T>C (p.Leu358Pro)
c.1397T>C (p.Leu466Pro)
c.571T>C
c.3590T>C (p.Leu1197Pro)
c.842T>C (p.Leu281Pro)
c.2360T>C (p.Leu787Pro)
c.1496T>C (p.Leu499Pro)
11g.118480194T>GCA382826338KMT2Ac.3689T>G (p.Leu1230Arg)
c.1172T>G (p.Leu391Arg)
c.1073T>G (p.Leu358Arg)
c.1397T>G (p.Leu466Arg)
c.571T>G
c.3590T>G (p.Leu1197Arg)
c.842T>G (p.Leu281Arg)
c.2360T>G (p.Leu787Arg)
c.1496T>G (p.Leu499Arg)
11g.118480195A>CCA477088717KMT2Ac.3690A>C (p.Leu1230=)
c.1173A>C (p.Leu391=)
c.1074A>C (p.Leu358=)
c.1398A>C (p.Leu466=)
c.572A>C
c.3591A>C (p.Leu1197=)
c.843A>C (p.Leu281=)
c.2361A>C (p.Leu787=)
c.1497A>C (p.Leu499=)
11g.118480195A>GCA477088718KMT2Ac.3690A>G (p.Leu1230=)
c.1173A>G (p.Leu391=)
c.1074A>G (p.Leu358=)
c.1398A>G (p.Leu466=)
c.572A>G
c.3591A>G (p.Leu1197=)
c.843A>G (p.Leu281=)
c.2361A>G (p.Leu787=)
c.1497A>G (p.Leu499=)
11g.118480195A>TCA477088719KMT2Ac.3690A>T (p.Leu1230=)
c.1173A>T (p.Leu391=)
c.1074A>T (p.Leu358=)
c.1398A>T (p.Leu466=)
c.572A>T
c.3591A>T (p.Leu1197=)
c.843A>T (p.Leu281=)
c.2361A>T (p.Leu787=)
c.1497A>T (p.Leu499=)
11g.118480196C>ACA382826341KMT2Ac.3691C>A (p.Gln1231Lys)
c.1174C>A (p.Gln392Lys)
c.1075C>A (p.Gln359Lys)
c.1399C>A (p.Gln467Lys)
c.573C>A
c.3592C>A (p.Gln1198Lys)
c.844C>A (p.Gln282Lys)
c.2362C>A (p.Gln788Lys)
c.1498C>A (p.Gln500Lys)
 gnomAD v4
11g.118480196C=CA2003511991KMT2Ac.3691C= (p.Gln1231=)
c.1174C= (p.Gln392=)
c.1075C= (p.Gln359=)
c.1399C= (p.Gln467=)
c.573C=
c.3592C= (p.Gln1198=)
c.844C= (p.Gln282=)
c.2362C= (p.Gln788=)
c.1498C= (p.Gln500=)
11g.118480196C>GCA382826343KMT2Ac.3691C>G (p.Gln1231Glu)
c.1174C>G (p.Gln392Glu)
c.1075C>G (p.Gln359Glu)
c.1399C>G (p.Gln467Glu)
c.573C>G
c.3592C>G (p.Gln1198Glu)
c.844C>G (p.Gln282Glu)
c.2362C>G (p.Gln788Glu)
c.1498C>G (p.Gln500Glu)
11g.118480196C>TCA382826345KMT2Ac.3691C>T (p.Gln1231Ter)
c.1174C>T (p.Gln392Ter)
c.1075C>T (p.Gln359Ter)
c.1399C>T (p.Gln467Ter)
c.573C>T
c.3592C>T (p.Gln1198Ter)
c.844C>T (p.Gln282Ter)
c.2362C>T (p.Gln788Ter)
c.1498C>T (p.Gln500Ter)
 ClinVar dbSNP
11g.118480197A=CA2003511998KMT2Ac.3692A= (p.Gln1231=)
c.1175A= (p.Gln392=)
c.1076A= (p.Gln359=)
c.1400A= (p.Gln467=)
c.574A=
c.3593A= (p.Gln1198=)
c.845A= (p.Gln282=)
c.2363A= (p.Gln788=)
c.1499A= (p.Gln500=)
11g.118480197A>CCA229527109KMT2Ac.3692A>C (p.Gln1231Pro)
c.1175A>C (p.Gln392Pro)
c.1076A>C (p.Gln359Pro)
c.1400A>C (p.Gln467Pro)
c.574A>C
c.3593A>C (p.Gln1198Pro)
c.845A>C (p.Gln282Pro)
c.2363A>C (p.Gln788Pro)
c.1499A>C (p.Gln500Pro)
 dbSNP
11g.118480197A>GCA382826351KMT2Ac.3692A>G (p.Gln1231Arg)
c.1175A>G (p.Gln392Arg)
c.1076A>G (p.Gln359Arg)
c.1400A>G (p.Gln467Arg)
c.574A>G
c.3593A>G (p.Gln1198Arg)
c.845A>G (p.Gln282Arg)
c.2363A>G (p.Gln788Arg)
c.1499A>G (p.Gln500Arg)
11g.118480197A>TCA382826354KMT2Ac.3692A>T (p.Gln1231Leu)
c.1175A>T (p.Gln392Leu)
c.1076A>T (p.Gln359Leu)
c.1400A>T (p.Gln467Leu)
c.574A>T
c.3593A>T (p.Gln1198Leu)
c.845A>T (p.Gln282Leu)
c.2363A>T (p.Gln788Leu)
c.1499A>T (p.Gln500Leu)
11g.118480198A=CA2003512000KMT2Ac.3693A= (p.Gln1231=)
c.1176A= (p.Gln392=)
c.1077A= (p.Gln359=)
c.1401A= (p.Gln467=)
c.575A=
c.3594A= (p.Gln1198=)
c.846A= (p.Gln282=)
c.2364A= (p.Gln788=)
c.1500A= (p.Gln500=)
11g.118480198A>CCA382826359KMT2Ac.3693A>C (p.Gln1231His)
c.1176A>C (p.Gln392His)
c.1077A>C (p.Gln359His)
c.1401A>C (p.Gln467His)
c.575A>C
c.3594A>C (p.Gln1198His)
c.846A>C (p.Gln282His)
c.2364A>C (p.Gln788His)
c.1500A>C (p.Gln500His)
11g.118480198A>GCA229527115KMT2Ac.3693A>G (p.Gln1231=)
c.1176A>G (p.Gln392=)
c.1077A>G (p.Gln359=)
c.1401A>G (p.Gln467=)
c.575A>G
c.3594A>G (p.Gln1198=)
c.846A>G (p.Gln282=)
c.2364A>G (p.Gln788=)
c.1500A>G (p.Gln500=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480198A>TCA382826357KMT2Ac.3693A>T (p.Gln1231His)
c.1176A>T (p.Gln392His)
c.1077A>T (p.Gln359His)
c.1401A>T (p.Gln467His)
c.575A>T
c.3594A>T (p.Gln1198His)
c.846A>T (p.Gln282His)
c.2364A>T (p.Gln788His)
c.1500A>T (p.Gln500His)
11g.118480199T>ACA382826363KMT2Ac.3694T>A (p.Trp1232Arg)
c.1177T>A (p.Trp393Arg)
c.1078T>A (p.Trp360Arg)
c.1402T>A (p.Trp468Arg)
c.576T>A
c.3595T>A (p.Trp1199Arg)
c.847T>A (p.Trp283Arg)
c.2365T>A (p.Trp789Arg)
c.1501T>A (p.Trp501Arg)
11g.118480199T>CCA382826365KMT2Ac.3694T>C (p.Trp1232Arg)
c.1177T>C (p.Trp393Arg)
c.1078T>C (p.Trp360Arg)
c.1402T>C (p.Trp468Arg)
c.576T>C
c.3595T>C (p.Trp1199Arg)
c.847T>C (p.Trp283Arg)
c.2365T>C (p.Trp789Arg)
c.1501T>C (p.Trp501Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.118480199T>GCA382826369KMT2Ac.3694T>G (p.Trp1232Gly)
c.1177T>G (p.Trp393Gly)
c.1078T>G (p.Trp360Gly)
c.1402T>G (p.Trp468Gly)
c.576T>G
c.3595T>G (p.Trp1199Gly)
c.847T>G (p.Trp283Gly)
c.2365T>G (p.Trp789Gly)
c.1501T>G (p.Trp501Gly)
11g.118480199T=CA2003512003KMT2Ac.3694T= (p.Trp1232=)
c.1177T= (p.Trp393=)
c.1078T= (p.Trp360=)
c.1402T= (p.Trp468=)
c.576T=
c.3595T= (p.Trp1199=)
c.847T= (p.Trp283=)
c.2365T= (p.Trp789=)
c.1501T= (p.Trp501=)
11g.118480200G>ACA382826372KMT2Ac.3695G>A (p.Trp1232Ter)
c.1178G>A (p.Trp393Ter)
c.1079G>A (p.Trp360Ter)
c.1403G>A (p.Trp468Ter)
c.577G>A
c.3596G>A (p.Trp1199Ter)
c.848G>A (p.Trp283Ter)
c.2366G>A (p.Trp789Ter)
c.1502G>A (p.Trp501Ter)
11g.118480200G>CCA382826375KMT2Ac.3695G>C (p.Trp1232Ser)
c.1178G>C (p.Trp393Ser)
c.1079G>C (p.Trp360Ser)
c.1403G>C (p.Trp468Ser)
c.577G>C
c.3596G>C (p.Trp1199Ser)
c.848G>C (p.Trp283Ser)
c.2366G>C (p.Trp789Ser)
c.1502G>C (p.Trp501Ser)
11g.118480200G>TCA382826377KMT2Ac.3695G>T (p.Trp1232Leu)
c.1178G>T (p.Trp393Leu)
c.1079G>T (p.Trp360Leu)
c.1403G>T (p.Trp468Leu)
c.577G>T
c.3596G>T (p.Trp1199Leu)
c.848G>T (p.Trp283Leu)
c.2366G>T (p.Trp789Leu)
c.1502G>T (p.Trp501Leu)
11g.118480201G>ACA382826380KMT2Ac.3696G>A (p.Trp1232Ter)
c.1179G>A (p.Trp393Ter)
c.1080G>A (p.Trp360Ter)
c.1404G>A (p.Trp468Ter)
c.578G>A
c.3597G>A (p.Trp1199Ter)
c.849G>A (p.Trp283Ter)
c.2367G>A (p.Trp789Ter)
c.1503G>A (p.Trp501Ter)
11g.118480201G>CCA382826381KMT2Ac.3696G>C (p.Trp1232Cys)
c.1179G>C (p.Trp393Cys)
c.1080G>C (p.Trp360Cys)
c.1404G>C (p.Trp468Cys)
c.578G>C
c.3597G>C (p.Trp1199Cys)
c.849G>C (p.Trp283Cys)
c.2367G>C (p.Trp789Cys)
c.1503G>C (p.Trp501Cys)
11g.118480201G>TCA382826383KMT2Ac.3696G>T (p.Trp1232Cys)
c.1179G>T (p.Trp393Cys)
c.1080G>T (p.Trp360Cys)
c.1404G>T (p.Trp468Cys)
c.578G>T
c.3597G>T (p.Trp1199Cys)
c.849G>T (p.Trp283Cys)
c.2367G>T (p.Trp789Cys)
c.1503G>T (p.Trp501Cys)
11g.118480202A>CCA382826385KMT2Ac.3697A>C (p.Met1233Leu)
c.1180A>C (p.Met394Leu)
c.1081A>C (p.Met361Leu)
c.1405A>C (p.Met469Leu)
c.579A>C
c.3598A>C (p.Met1200Leu)
c.850A>C (p.Met284Leu)
c.2368A>C (p.Met790Leu)
c.1504A>C (p.Met502Leu)
11g.118480202A>GCA382826388KMT2Ac.3697A>G (p.Met1233Val)
c.1180A>G (p.Met394Val)
c.1081A>G (p.Met361Val)
c.1405A>G (p.Met469Val)
c.579A>G
c.3598A>G (p.Met1200Val)
c.850A>G (p.Met284Val)
c.2368A>G (p.Met790Val)
c.1504A>G (p.Met502Val)
11g.118480202A>TCA382826390KMT2Ac.3697A>T (p.Met1233Leu)
c.1180A>T (p.Met394Leu)
c.1081A>T (p.Met361Leu)
c.1405A>T (p.Met469Leu)
c.579A>T
c.3598A>T (p.Met1200Leu)
c.850A>T (p.Met284Leu)
c.2368A>T (p.Met790Leu)
c.1504A>T (p.Met502Leu)
11g.118480203T>ACA382826394KMT2Ac.3698T>A (p.Met1233Lys)
c.1181T>A (p.Met394Lys)
c.1082T>A (p.Met361Lys)
c.1406T>A (p.Met469Lys)
c.580T>A
c.3599T>A (p.Met1200Lys)
c.851T>A (p.Met284Lys)
c.2369T>A (p.Met790Lys)
c.1505T>A (p.Met502Lys)
11g.118480203T>CCA382826396KMT2Ac.3698T>C (p.Met1233Thr)
c.1181T>C (p.Met394Thr)
c.1082T>C (p.Met361Thr)
c.1406T>C (p.Met469Thr)
c.580T>C
c.3599T>C (p.Met1200Thr)
c.851T>C (p.Met284Thr)
c.2369T>C (p.Met790Thr)
c.1505T>C (p.Met502Thr)
11g.118480203T>GCA382826392KMT2Ac.3698T>G (p.Met1233Arg)
c.1181T>G (p.Met394Arg)
c.1082T>G (p.Met361Arg)
c.1406T>G (p.Met469Arg)
c.580T>G
c.3599T>G (p.Met1200Arg)
c.851T>G (p.Met284Arg)
c.2369T>G (p.Met790Arg)
c.1505T>G (p.Met502Arg)
11g.118480204G>ACA382826399KMT2Ac.3699G>A (p.Met1233Ile)
c.1182G>A (p.Met394Ile)
c.1083G>A (p.Met361Ile)
c.1407G>A (p.Met469Ile)
c.581G>A
c.3600G>A (p.Met1200Ile)
c.852G>A (p.Met284Ile)
c.2370G>A (p.Met790Ile)
c.1506G>A (p.Met502Ile)
11g.118480204G>CCA382826401KMT2Ac.3699G>C (p.Met1233Ile)
c.1182G>C (p.Met394Ile)
c.1083G>C (p.Met361Ile)
c.1407G>C (p.Met469Ile)
c.581G>C
c.3600G>C (p.Met1200Ile)
c.852G>C (p.Met284Ile)
c.2370G>C (p.Met790Ile)
c.1506G>C (p.Met502Ile)
11g.118480204G>TCA382826403KMT2Ac.3699G>T (p.Met1233Ile)
c.1182G>T (p.Met394Ile)
c.1083G>T (p.Met361Ile)
c.1407G>T (p.Met469Ile)
c.581G>T
c.3600G>T (p.Met1200Ile)
c.852G>T (p.Met284Ile)
c.2370G>T (p.Met790Ile)
c.1506G>T (p.Met502Ile)
11g.118480205C>ACA382826404KMT2Ac.3700C>A (p.Pro1234Thr)
c.1183C>A (p.Pro395Thr)
c.1084C>A (p.Pro362Thr)
c.1408C>A (p.Pro470Thr)
c.582C>A
c.3601C>A (p.Pro1201Thr)
c.853C>A (p.Pro285Thr)
c.2371C>A (p.Pro791Thr)
c.1507C>A (p.Pro503Thr)
 gnomAD v4
11g.118480205C=CA2003512005KMT2Ac.3700C= (p.Pro1234=)
c.1183C= (p.Pro395=)
c.1084C= (p.Pro362=)
c.1408C= (p.Pro470=)
c.582C=
c.3601C= (p.Pro1201=)
c.853C= (p.Pro285=)
c.2371C= (p.Pro791=)
c.1507C= (p.Pro503=)
11g.118480205C>GCA6303682KMT2Ac.3700C>G (p.Pro1234Ala)
c.1183C>G (p.Pro395Ala)
c.1084C>G (p.Pro362Ala)
c.1408C>G (p.Pro470Ala)
c.582C>G
c.3601C>G (p.Pro1201Ala)
c.853C>G (p.Pro285Ala)
c.2371C>G (p.Pro791Ala)
c.1507C>G (p.Pro503Ala)
 dbSNP ExAC gnomAD v2
11g.118480205C>TCA382826405KMT2Ac.3700C>T (p.Pro1234Ser)
c.1183C>T (p.Pro395Ser)
c.1084C>T (p.Pro362Ser)
c.1408C>T (p.Pro470Ser)
c.582C>T
c.3601C>T (p.Pro1201Ser)
c.853C>T (p.Pro285Ser)
c.2371C>T (p.Pro791Ser)
c.1507C>T (p.Pro503Ser)
11g.118480206C>ACA382826406KMT2Ac.3701C>A (p.Pro1234His)
c.1184C>A (p.Pro395His)
c.1085C>A (p.Pro362His)
c.1409C>A (p.Pro470His)
c.583C>A
c.3602C>A (p.Pro1201His)
c.854C>A (p.Pro285His)
c.2372C>A (p.Pro791His)
c.1508C>A (p.Pro503His)
11g.118480206C>GCA382826407KMT2Ac.3701C>G (p.Pro1234Arg)
c.1184C>G (p.Pro395Arg)
c.1085C>G (p.Pro362Arg)
c.1409C>G (p.Pro470Arg)
c.583C>G
c.3602C>G (p.Pro1201Arg)
c.854C>G (p.Pro285Arg)
c.2372C>G (p.Pro791Arg)
c.1508C>G (p.Pro503Arg)
11g.118480206C>TCA382826408KMT2Ac.3701C>T (p.Pro1234Leu)
c.1184C>T (p.Pro395Leu)
c.1085C>T (p.Pro362Leu)
c.1409C>T (p.Pro470Leu)
c.583C>T
c.3602C>T (p.Pro1201Leu)
c.854C>T (p.Pro285Leu)
c.2372C>T (p.Pro791Leu)
c.1508C>T (p.Pro503Leu)
11g.118480207T>ACA477088728KMT2Ac.3702T>A (p.Pro1234=)
c.1185T>A (p.Pro395=)
c.1086T>A (p.Pro362=)
c.1410T>A (p.Pro470=)
c.584T>A
c.3603T>A (p.Pro1201=)
c.855T>A (p.Pro285=)
c.2373T>A (p.Pro791=)
c.1509T>A (p.Pro503=)
11g.118480207T>CCA477088730KMT2Ac.3702T>C (p.Pro1234=)
c.1185T>C (p.Pro395=)
c.1086T>C (p.Pro362=)
c.1410T>C (p.Pro470=)
c.584T>C
c.3603T>C (p.Pro1201=)
c.855T>C (p.Pro285=)
c.2373T>C (p.Pro791=)
c.1509T>C (p.Pro503=)
11g.118480207T>GCA477088729KMT2Ac.3702T>G (p.Pro1234=)
c.1185T>G (p.Pro395=)
c.1086T>G (p.Pro362=)
c.1410T>G (p.Pro470=)
c.584T>G
c.3603T>G (p.Pro1201=)
c.855T>G (p.Pro285=)
c.2373T>G (p.Pro791=)
c.1509T>G (p.Pro503=)
11g.118480208delCA2695215647KMT2Ac.3703del (p.Ser1235ProfsTer12)
c.1186del (p.Ser396ProfsTer12)
c.1087del (p.Ser363ProfsTer12)
c.1411del (p.Ser471ProfsTer12)
c.585del
c.3604del (p.Ser1202ProfsTer12)
c.856del (p.Ser286ProfsTer12)
c.2374del (p.Ser792ProfsTer12)
c.1510del (p.Ser504ProfsTer12)
11g.118480208T>ACA382826411KMT2Ac.3703T>A (p.Ser1235Thr)
c.1186T>A (p.Ser396Thr)
c.1087T>A (p.Ser363Thr)
c.1411T>A (p.Ser471Thr)
c.585T>A
c.3604T>A (p.Ser1202Thr)
c.856T>A (p.Ser286Thr)
c.2374T>A (p.Ser792Thr)
c.1510T>A (p.Ser504Thr)
11g.118480208T>CCA382826413KMT2Ac.3703T>C (p.Ser1235Pro)
c.1186T>C (p.Ser396Pro)
c.1087T>C (p.Ser363Pro)
c.1411T>C (p.Ser471Pro)
c.585T>C
c.3604T>C (p.Ser1202Pro)
c.856T>C (p.Ser286Pro)
c.2374T>C (p.Ser792Pro)
c.1510T>C (p.Ser504Pro)
11g.118480208T>GCA382826414KMT2Ac.3703T>G (p.Ser1235Ala)
c.1186T>G (p.Ser396Ala)
c.1087T>G (p.Ser363Ala)
c.1411T>G (p.Ser471Ala)
c.585T>G
c.3604T>G (p.Ser1202Ala)
c.856T>G (p.Ser286Ala)
c.2374T>G (p.Ser792Ala)
c.1510T>G (p.Ser504Ala)
11g.118480209C>ACA382826416KMT2Ac.3704C>A (p.Ser1235Tyr)
c.1187C>A (p.Ser396Tyr)
c.1088C>A (p.Ser363Tyr)
c.1412C>A (p.Ser471Tyr)
c.586C>A
c.3605C>A (p.Ser1202Tyr)
c.857C>A (p.Ser286Tyr)
c.2375C>A (p.Ser792Tyr)
c.1511C>A (p.Ser504Tyr)
11g.118480209C=CA2003512008KMT2Ac.3704C= (p.Ser1235=)
c.1187C= (p.Ser396=)
c.1088C= (p.Ser363=)
c.1412C= (p.Ser471=)
c.586C=
c.3605C= (p.Ser1202=)
c.857C= (p.Ser286=)
c.2375C= (p.Ser792=)
c.1511C= (p.Ser504=)
11g.118480209C>GCA6303683KMT2Ac.3704C>G (p.Ser1235Cys)
c.1187C>G (p.Ser396Cys)
c.1088C>G (p.Ser363Cys)
c.1412C>G (p.Ser471Cys)
c.586C>G
c.3605C>G (p.Ser1202Cys)
c.857C>G (p.Ser286Cys)
c.2375C>G (p.Ser792Cys)
c.1511C>G (p.Ser504Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480209C>TCA382826415KMT2Ac.3704C>T (p.Ser1235Phe)
c.1187C>T (p.Ser396Phe)
c.1088C>T (p.Ser363Phe)
c.1412C>T (p.Ser471Phe)
c.586C>T
c.3605C>T (p.Ser1202Phe)
c.857C>T (p.Ser286Phe)
c.2375C>T (p.Ser792Phe)
c.1511C>T (p.Ser504Phe)
11g.118480210C>ACA477088731KMT2Ac.3705C>A (p.Ser1235=)
c.1188C>A (p.Ser396=)
c.1089C>A (p.Ser363=)
c.1413C>A (p.Ser471=)
c.587C>A
c.3606C>A (p.Ser1202=)
c.858C>A (p.Ser286=)
c.2376C>A (p.Ser792=)
c.1512C>A (p.Ser504=)
11g.118480210C>GCA477088732KMT2Ac.3705C>G (p.Ser1235=)
c.1188C>G (p.Ser396=)
c.1089C>G (p.Ser363=)
c.1413C>G (p.Ser471=)
c.587C>G
c.3606C>G (p.Ser1202=)
c.858C>G (p.Ser286=)
c.2376C>G (p.Ser792=)
c.1512C>G (p.Ser504=)
11g.118480210C>TCA477088733KMT2Ac.3705C>T (p.Ser1235=)
c.1188C>T (p.Ser396=)
c.1089C>T (p.Ser363=)
c.1413C>T (p.Ser471=)
c.587C>T
c.3606C>T (p.Ser1202=)
c.858C>T (p.Ser286=)
c.2376C>T (p.Ser792=)
c.1512C>T (p.Ser504=)
11g.118480211A=CA2003512009KMT2Ac.3706A= (p.Lys1236=)
c.1189A= (p.Lys397=)
c.1090A= (p.Lys364=)
c.1414A= (p.Lys472=)
c.588A=
c.3607A= (p.Lys1203=)
c.859A= (p.Lys287=)
c.2377A= (p.Lys793=)
c.1513A= (p.Lys505=)
11g.118480211A>CCA229527124KMT2Ac.3706A>C (p.Lys1236Gln)
c.1189A>C (p.Lys397Gln)
c.1090A>C (p.Lys364Gln)
c.1414A>C (p.Lys472Gln)
c.588A>C
c.3607A>C (p.Lys1203Gln)
c.859A>C (p.Lys287Gln)
c.2377A>C (p.Lys793Gln)
c.1513A>C (p.Lys505Gln)
 dbSNP
11g.118480211A>GCA382826418KMT2Ac.3706A>G (p.Lys1236Glu)
c.1189A>G (p.Lys397Glu)
c.1090A>G (p.Lys364Glu)
c.1414A>G (p.Lys472Glu)
c.588A>G
c.3607A>G (p.Lys1203Glu)
c.859A>G (p.Lys287Glu)
c.2377A>G (p.Lys793Glu)
c.1513A>G (p.Lys505Glu)
11g.118480211A>TCA382826427KMT2Ac.3706A>T (p.Lys1236Ter)
c.1189A>T (p.Lys397Ter)
c.1090A>T (p.Lys364Ter)
c.1414A>T (p.Lys472Ter)
c.588A>T
c.3607A>T (p.Lys1203Ter)
c.859A>T (p.Lys287Ter)
c.2377A>T (p.Lys793Ter)
c.1513A>T (p.Lys505Ter)
11g.118480212A>CCA382826430KMT2Ac.3707A>C (p.Lys1236Thr)
c.1190A>C (p.Lys397Thr)
c.1091A>C (p.Lys364Thr)
c.1415A>C (p.Lys472Thr)
c.589A>C
c.3608A>C (p.Lys1203Thr)
c.860A>C (p.Lys287Thr)
c.2378A>C (p.Lys793Thr)
c.1514A>C (p.Lys505Thr)
11g.118480212A>GCA382826432KMT2Ac.3707A>G (p.Lys1236Arg)
c.1190A>G (p.Lys397Arg)
c.1091A>G (p.Lys364Arg)
c.1415A>G (p.Lys472Arg)
c.589A>G
c.3608A>G (p.Lys1203Arg)
c.860A>G (p.Lys287Arg)
c.2378A>G (p.Lys793Arg)
c.1514A>G (p.Lys505Arg)
11g.118480212A>TCA382826434KMT2Ac.3707A>T (p.Lys1236Ile)
c.1190A>T (p.Lys397Ile)
c.1091A>T (p.Lys364Ile)
c.1415A>T (p.Lys472Ile)
c.589A>T
c.3608A>T (p.Lys1203Ile)
c.860A>T (p.Lys287Ile)
c.2378A>T (p.Lys793Ile)
c.1514A>T (p.Lys505Ile)
11g.118480213A>CCA382826445KMT2Ac.3708A>C (p.Lys1236Asn)
c.1191A>C (p.Lys397Asn)
c.1092A>C (p.Lys364Asn)
c.1416A>C (p.Lys472Asn)
c.590A>C
c.3609A>C (p.Lys1203Asn)
c.861A>C (p.Lys287Asn)
c.2379A>C (p.Lys793Asn)
c.1515A>C (p.Lys505Asn)
11g.118480213A>GCA477088736KMT2Ac.3708A>G (p.Lys1236=)
c.1191A>G (p.Lys397=)
c.1092A>G (p.Lys364=)
c.1416A>G (p.Lys472=)
c.590A>G
c.3609A>G (p.Lys1203=)
c.861A>G (p.Lys287=)
c.2379A>G (p.Lys793=)
c.1515A>G (p.Lys505=)
11g.118480213A>TCA382826439KMT2Ac.3708A>T (p.Lys1236Asn)
c.1191A>T (p.Lys397Asn)
c.1092A>T (p.Lys364Asn)
c.1416A>T (p.Lys472Asn)
c.590A>T
c.3609A>T (p.Lys1203Asn)
c.861A>T (p.Lys287Asn)
c.2379A>T (p.Lys793Asn)
c.1515A>T (p.Lys505Asn)
11g.118480214G>ACA382826447KMT2Ac.3709G>A (p.Ala1237Thr)
c.1192G>A (p.Ala398Thr)
c.1093G>A (p.Ala365Thr)
c.1417G>A (p.Ala473Thr)
c.591G>A
c.3610G>A (p.Ala1204Thr)
c.862G>A (p.Ala288Thr)
c.2380G>A (p.Ala794Thr)
c.1516G>A (p.Ala506Thr)
11g.118480214G>CCA382826450KMT2Ac.3709G>C (p.Ala1237Pro)
c.1192G>C (p.Ala398Pro)
c.1093G>C (p.Ala365Pro)
c.1417G>C (p.Ala473Pro)
c.591G>C
c.3610G>C (p.Ala1204Pro)
c.862G>C (p.Ala288Pro)
c.2380G>C (p.Ala794Pro)
c.1516G>C (p.Ala506Pro)
11g.118480214G>TCA382826456KMT2Ac.3709G>T (p.Ala1237Ser)
c.1192G>T (p.Ala398Ser)
c.1093G>T (p.Ala365Ser)
c.1417G>T (p.Ala473Ser)
c.591G>T
c.3610G>T (p.Ala1204Ser)
c.862G>T (p.Ala288Ser)
c.2380G>T (p.Ala794Ser)
c.1516G>T (p.Ala506Ser)
11g.118480215C>ACA382826457KMT2Ac.3710C>A (p.Ala1237Asp)
c.1193C>A (p.Ala398Asp)
c.1094C>A (p.Ala365Asp)
c.1418C>A (p.Ala473Asp)
c.592C>A
c.3611C>A (p.Ala1204Asp)
c.863C>A (p.Ala288Asp)
c.2381C>A (p.Ala794Asp)
c.1517C>A (p.Ala506Asp)
 ClinVar gnomAD v4
11g.118480215C=CA2003512011KMT2Ac.3710C= (p.Ala1237=)
c.1193C= (p.Ala398=)
c.1094C= (p.Ala365=)
c.1418C= (p.Ala473=)
c.592C=
c.3611C= (p.Ala1204=)
c.863C= (p.Ala288=)
c.2381C= (p.Ala794=)
c.1517C= (p.Ala506=)
11g.118480215C>GCA382826459KMT2Ac.3710C>G (p.Ala1237Gly)
c.1193C>G (p.Ala398Gly)
c.1094C>G (p.Ala365Gly)
c.1418C>G (p.Ala473Gly)
c.592C>G
c.3611C>G (p.Ala1204Gly)
c.863C>G (p.Ala288Gly)
c.2381C>G (p.Ala794Gly)
c.1517C>G (p.Ala506Gly)
11g.118480215C>TCA382826460KMT2Ac.3710C>T (p.Ala1237Val)
c.1193C>T (p.Ala398Val)
c.1094C>T (p.Ala365Val)
c.1418C>T (p.Ala473Val)
c.592C>T
c.3611C>T (p.Ala1204Val)
c.863C>T (p.Ala288Val)
c.2381C>T (p.Ala794Val)
c.1517C>T (p.Ala506Val)
 dbSNP
11g.118480216C>ACA477088737KMT2Ac.3711C>A (p.Ala1237=)
c.1194C>A (p.Ala398=)
c.1095C>A (p.Ala365=)
c.1419C>A (p.Ala473=)
c.593C>A
c.3612C>A (p.Ala1204=)
c.864C>A (p.Ala288=)
c.2382C>A (p.Ala794=)
c.1518C>A (p.Ala506=)
11g.118480216C>GCA477088738KMT2Ac.3711C>G (p.Ala1237=)
c.1194C>G (p.Ala398=)
c.1095C>G (p.Ala365=)
c.1419C>G (p.Ala473=)
c.593C>G
c.3612C>G (p.Ala1204=)
c.864C>G (p.Ala288=)
c.2382C>G (p.Ala794=)
c.1518C>G (p.Ala506=)
11g.118480216C>TCA477088740KMT2Ac.3711C>T (p.Ala1237=)
c.1194C>T (p.Ala398=)
c.1095C>T (p.Ala365=)
c.1419C>T (p.Ala473=)
c.593C>T
c.3612C>T (p.Ala1204=)
c.864C>T (p.Ala288=)
c.2382C>T (p.Ala794=)
c.1518C>T (p.Ala506=)
11g.118480216_118480220delinsTCA2695215648KMT2Ac.3711_3715delinsT (p.Tyr1238CysfsTer8)
c.1194_1198delinsT (p.Tyr399CysfsTer8)
c.1095_1099delinsT (p.Tyr366CysfsTer8)
c.1419_1423delinsT (p.Tyr474CysfsTer8)
c.593_597delinsT
c.3612_3616delinsT (p.Tyr1205CysfsTer8)
c.864_868delinsT (p.Tyr289CysfsTer8)
c.2382_2386delinsT (p.Tyr795CysfsTer8)
c.1518_1522delinsT (p.Tyr507CysfsTer8)
11g.118480217T>ACA382826465KMT2Ac.3712T>A (p.Tyr1238Asn)
c.1195T>A (p.Tyr399Asn)
c.1096T>A (p.Tyr366Asn)
c.1420T>A (p.Tyr474Asn)
c.594T>A
c.3613T>A (p.Tyr1205Asn)
c.865T>A (p.Tyr289Asn)
c.2383T>A (p.Tyr795Asn)
c.1519T>A (p.Tyr507Asn)
11g.118480217T>CCA229527130KMT2Ac.3712T>C (p.Tyr1238His)
c.1195T>C (p.Tyr399His)
c.1096T>C (p.Tyr366His)
c.1420T>C (p.Tyr474His)
c.594T>C
c.3613T>C (p.Tyr1205His)
c.865T>C (p.Tyr289His)
c.2383T>C (p.Tyr795His)
c.1519T>C (p.Tyr507His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118480217T>GCA382826463KMT2Ac.3712T>G (p.Tyr1238Asp)
c.1195T>G (p.Tyr399Asp)
c.1096T>G (p.Tyr366Asp)
c.1420T>G (p.Tyr474Asp)
c.594T>G
c.3613T>G (p.Tyr1205Asp)
c.865T>G (p.Tyr289Asp)
c.2383T>G (p.Tyr795Asp)
c.1519T>G (p.Tyr507Asp)
11g.118480217T=CA2003512024KMT2Ac.3712T= (p.Tyr1238=)
c.1195T= (p.Tyr399=)
c.1096T= (p.Tyr366=)
c.1420T= (p.Tyr474=)
c.594T=
c.3613T= (p.Tyr1205=)
c.865T= (p.Tyr289=)
c.2383T= (p.Tyr795=)
c.1519T= (p.Tyr507=)
11g.118480218A>CCA382826468KMT2Ac.3713A>C (p.Tyr1238Ser)
c.1196A>C (p.Tyr399Ser)
c.1097A>C (p.Tyr366Ser)
c.1421A>C (p.Tyr474Ser)
c.595A>C
c.3614A>C (p.Tyr1205Ser)
c.866A>C (p.Tyr289Ser)
c.2384A>C (p.Tyr795Ser)
c.1520A>C (p.Tyr507Ser)
11g.118480218A>GCA382826473KMT2Ac.3713A>G (p.Tyr1238Cys)
c.1196A>G (p.Tyr399Cys)
c.1097A>G (p.Tyr366Cys)
c.1421A>G (p.Tyr474Cys)
c.595A>G
c.3614A>G (p.Tyr1205Cys)
c.866A>G (p.Tyr289Cys)
c.2384A>G (p.Tyr795Cys)
c.1520A>G (p.Tyr507Cys)
11g.118480218A>TCA382826472KMT2Ac.3713A>T (p.Tyr1238Phe)
c.1196A>T (p.Tyr399Phe)
c.1097A>T (p.Tyr366Phe)
c.1421A>T (p.Tyr474Phe)
c.595A>T
c.3614A>T (p.Tyr1205Phe)
c.866A>T (p.Tyr289Phe)
c.2384A>T (p.Tyr795Phe)
c.1520A>T (p.Tyr507Phe)
11g.118480219C>ACA382826474KMT2Ac.3714C>A (p.Tyr1238Ter)
c.1197C>A (p.Tyr399Ter)
c.1098C>A (p.Tyr366Ter)
c.1422C>A (p.Tyr474Ter)
c.596C>A
c.3615C>A (p.Tyr1205Ter)
c.867C>A (p.Tyr289Ter)
c.2385C>A (p.Tyr795Ter)
c.1521C>A (p.Tyr507Ter)
 ClinVar
11g.118480219C=CA2003512030KMT2Ac.3714C= (p.Tyr1238=)
c.1197C= (p.Tyr399=)
c.1098C= (p.Tyr366=)
c.1422C= (p.Tyr474=)
c.596C=
c.3615C= (p.Tyr1205=)
c.867C= (p.Tyr289=)
c.2385C= (p.Tyr795=)
c.1521C= (p.Tyr507=)
11g.118480219C>GCA382826478KMT2Ac.3714C>G (p.Tyr1238Ter)
c.1197C>G (p.Tyr399Ter)
c.1098C>G (p.Tyr366Ter)
c.1422C>G (p.Tyr474Ter)
c.596C>G
c.3615C>G (p.Tyr1205Ter)
c.867C>G (p.Tyr289Ter)
c.2385C>G (p.Tyr795Ter)
c.1521C>G (p.Tyr507Ter)
11g.118480219C>TCA6303684KMT2Ac.3714C>T (p.Tyr1238=)
c.1197C>T (p.Tyr399=)
c.1098C>T (p.Tyr366=)
c.1422C>T (p.Tyr474=)
c.596C>T
c.3615C>T (p.Tyr1205=)
c.867C>T (p.Tyr289=)
c.2385C>T (p.Tyr795=)
c.1521C>T (p.Tyr507=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480220C>ACA382826480KMT2Ac.3715C>A (p.Leu1239Met)
c.1198C>A (p.Leu400Met)
c.1099C>A (p.Leu367Met)
c.1423C>A (p.Leu475Met)
c.597C>A
c.3616C>A (p.Leu1206Met)
c.868C>A (p.Leu290Met)
c.2386C>A (p.Leu796Met)
c.1522C>A (p.Leu508Met)
11g.118480220C=CA2003512034KMT2Ac.3715C= (p.Leu1239=)
c.1198C= (p.Leu400=)
c.1099C= (p.Leu367=)
c.1423C= (p.Leu475=)
c.597C=
c.3616C= (p.Leu1206=)
c.868C= (p.Leu290=)
c.2386C= (p.Leu796=)
c.1522C= (p.Leu508=)
11g.118480220C>GCA382826483KMT2Ac.3715C>G (p.Leu1239Val)
c.1198C>G (p.Leu400Val)
c.1099C>G (p.Leu367Val)
c.1423C>G (p.Leu475Val)
c.597C>G
c.3616C>G (p.Leu1206Val)
c.868C>G (p.Leu290Val)
c.2386C>G (p.Leu796Val)
c.1522C>G (p.Leu508Val)
 dbSNP gnomAD v3 gnomAD v4
11g.118480220C>TCA477088742KMT2Ac.3715C>T (p.Leu1239=)
c.1198C>T (p.Leu400=)
c.1099C>T (p.Leu367=)
c.1423C>T (p.Leu475=)
c.597C>T
c.3616C>T (p.Leu1206=)
c.868C>T (p.Leu290=)
c.2386C>T (p.Leu796=)
c.1522C>T (p.Leu508=)
11g.118480221T>ACA382826484KMT2Ac.3716T>A (p.Leu1239Gln)
c.1199T>A (p.Leu400Gln)
c.1100T>A (p.Leu367Gln)
c.1424T>A (p.Leu475Gln)
c.598T>A
c.3617T>A (p.Leu1206Gln)
c.869T>A (p.Leu290Gln)
c.2387T>A (p.Leu796Gln)
c.1523T>A (p.Leu508Gln)
 dbSNP
11g.118480221T>CCA382826485KMT2Ac.3716T>C (p.Leu1239Pro)
c.1199T>C (p.Leu400Pro)
c.1100T>C (p.Leu367Pro)
c.1424T>C (p.Leu475Pro)
c.598T>C
c.3617T>C (p.Leu1206Pro)
c.869T>C (p.Leu290Pro)
c.2387T>C (p.Leu796Pro)
c.1523T>C (p.Leu508Pro)
11g.118480221T>GCA382826486KMT2Ac.3716T>G (p.Leu1239Arg)
c.1199T>G (p.Leu400Arg)
c.1100T>G (p.Leu367Arg)
c.1424T>G (p.Leu475Arg)
c.598T>G
c.3617T>G (p.Leu1206Arg)
c.869T>G (p.Leu290Arg)
c.2387T>G (p.Leu796Arg)
c.1523T>G (p.Leu508Arg)
 ClinVar dbSNP
11g.118480221T=CA2003512039KMT2Ac.3716T= (p.Leu1239=)
c.1199T= (p.Leu400=)
c.1100T= (p.Leu367=)
c.1424T= (p.Leu475=)
c.598T=
c.3617T= (p.Leu1206=)
c.869T= (p.Leu290=)
c.2387T= (p.Leu796=)
c.1523T= (p.Leu508=)

Number of alleles fetched