Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.118491266A=CA2003519148KMT2Ac.4866A= (p.Gly1622=)
c.543A= (p.Gly181=)
c.4767A= (p.Gly1589=)
c.4653A= (p.Gly1551=)
c.903A= (p.Gly301=)
c.2250A= (p.Gly750=)
c.4863A= (p.Gly1621=)
c.2673A= (p.Gly891=)
c.2349A= (p.Gly783=)
11g.118491266A>CCA6303942KMT2Ac.4866A>C (p.Gly1622=)
c.543A>C (p.Gly181=)
c.4767A>C (p.Gly1589=)
c.4653A>C (p.Gly1551=)
c.903A>C (p.Gly301=)
c.2250A>C (p.Gly750=)
c.4863A>C (p.Gly1621=)
c.2673A>C (p.Gly891=)
c.2349A>C (p.Gly783=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118491266A>GCA477091637KMT2Ac.4866A>G (p.Gly1622=)
c.543A>G (p.Gly181=)
c.4767A>G (p.Gly1589=)
c.4653A>G (p.Gly1551=)
c.903A>G (p.Gly301=)
c.2250A>G (p.Gly750=)
c.4863A>G (p.Gly1621=)
c.2673A>G (p.Gly891=)
c.2349A>G (p.Gly783=)
ClinVar dbSNP
11g.118491266A>TCA477091638KMT2Ac.4866A>T (p.Gly1622=)
c.543A>T (p.Gly181=)
c.4767A>T (p.Gly1589=)
c.4653A>T (p.Gly1551=)
c.903A>T (p.Gly301=)
c.2250A>T (p.Gly750=)
c.4863A>T (p.Gly1621=)
c.2673A>T (p.Gly891=)
c.2349A>T (p.Gly783=)
11g.118491267A>CCA382834416KMT2Ac.4867A>C (p.Lys1623Gln)
c.544A>C (p.Lys182Gln)
c.4768A>C (p.Lys1590Gln)
c.4654A>C (p.Lys1552Gln)
c.904A>C (p.Lys302Gln)
c.2251A>C (p.Lys751Gln)
c.4864A>C (p.Lys1622Gln)
c.2674A>C (p.Lys892Gln)
c.2350A>C (p.Lys784Gln)
11g.118491267A>GCA382834417KMT2Ac.4867A>G (p.Lys1623Glu)
c.544A>G (p.Lys182Glu)
c.4768A>G (p.Lys1590Glu)
c.4654A>G (p.Lys1552Glu)
c.904A>G (p.Lys302Glu)
c.2251A>G (p.Lys751Glu)
c.4864A>G (p.Lys1622Glu)
c.2674A>G (p.Lys892Glu)
c.2350A>G (p.Lys784Glu)
11g.118491267A>TCA382834418KMT2Ac.4867A>T (p.Lys1623Ter)
c.544A>T (p.Lys182Ter)
c.4768A>T (p.Lys1590Ter)
c.4654A>T (p.Lys1552Ter)
c.904A>T (p.Lys302Ter)
c.2251A>T (p.Lys751Ter)
c.4864A>T (p.Lys1622Ter)
c.2674A>T (p.Lys892Ter)
c.2350A>T (p.Lys784Ter)
11g.118491268A>CCA382834419KMT2Ac.4868A>C (p.Lys1623Thr)
c.545A>C (p.Lys182Thr)
c.4769A>C (p.Lys1590Thr)
c.4655A>C (p.Lys1552Thr)
c.905A>C (p.Lys302Thr)
c.2252A>C (p.Lys751Thr)
c.4865A>C (p.Lys1622Thr)
c.2675A>C (p.Lys892Thr)
c.2351A>C (p.Lys784Thr)
11g.118491268A>GCA382834420KMT2Ac.4868A>G (p.Lys1623Arg)
c.545A>G (p.Lys182Arg)
c.4769A>G (p.Lys1590Arg)
c.4655A>G (p.Lys1552Arg)
c.905A>G (p.Lys302Arg)
c.2252A>G (p.Lys751Arg)
c.4865A>G (p.Lys1622Arg)
c.2675A>G (p.Lys892Arg)
c.2351A>G (p.Lys784Arg)
ClinVar gnomAD v4 COSMIC COSMIC
11g.118491268A>TCA382834421KMT2Ac.4868A>T (p.Lys1623Met)
c.545A>T (p.Lys182Met)
c.4769A>T (p.Lys1590Met)
c.4655A>T (p.Lys1552Met)
c.905A>T (p.Lys302Met)
c.2252A>T (p.Lys751Met)
c.4865A>T (p.Lys1622Met)
c.2675A>T (p.Lys892Met)
c.2351A>T (p.Lys784Met)
dbSNP
11g.118491269G>ACA477091639KMT2Ac.4869G>A (p.Lys1623=)
c.546G>A (p.Lys182=)
c.4770G>A (p.Lys1590=)
c.4656G>A (p.Lys1552=)
c.906G>A (p.Lys302=)
c.2253G>A (p.Lys751=)
c.4866G>A (p.Lys1622=)
c.2676G>A (p.Lys892=)
c.2352G>A (p.Lys784=)
11g.118491269G>CCA382834422KMT2Ac.4869G>C (p.Lys1623Asn)
c.546G>C (p.Lys182Asn)
c.4770G>C (p.Lys1590Asn)
c.4656G>C (p.Lys1552Asn)
c.906G>C (p.Lys302Asn)
c.2253G>C (p.Lys751Asn)
c.4866G>C (p.Lys1622Asn)
c.2676G>C (p.Lys892Asn)
c.2352G>C (p.Lys784Asn)
gnomAD v4
11g.118491269G>TCA382834423KMT2Ac.4869G>T (p.Lys1623Asn)
c.546G>T (p.Lys182Asn)
c.4770G>T (p.Lys1590Asn)
c.4656G>T (p.Lys1552Asn)
c.906G>T (p.Lys302Asn)
c.2253G>T (p.Lys751Asn)
c.4866G>T (p.Lys1622Asn)
c.2676G>T (p.Lys892Asn)
c.2352G>T (p.Lys784Asn)
11g.118491270T>ACA382834424KMT2Ac.4870T>A (p.Cys1624Ser)
c.547T>A (p.Cys183Ser)
c.4771T>A (p.Cys1591Ser)
c.4657T>A (p.Cys1553Ser)
c.907T>A (p.Cys303Ser)
c.2254T>A (p.Cys752Ser)
c.4867T>A (p.Cys1623Ser)
c.2677T>A (p.Cys893Ser)
c.2353T>A (p.Cys785Ser)
11g.118491270T>CCA382834425KMT2Ac.4870T>C (p.Cys1624Arg)
c.547T>C (p.Cys183Arg)
c.4771T>C (p.Cys1591Arg)
c.4657T>C (p.Cys1553Arg)
c.907T>C (p.Cys303Arg)
c.2254T>C (p.Cys752Arg)
c.4867T>C (p.Cys1623Arg)
c.2677T>C (p.Cys893Arg)
c.2353T>C (p.Cys785Arg)
11g.118491270T>GCA382834426KMT2Ac.4870T>G (p.Cys1624Gly)
c.547T>G (p.Cys183Gly)
c.4771T>G (p.Cys1591Gly)
c.4657T>G (p.Cys1553Gly)
c.907T>G (p.Cys303Gly)
c.2254T>G (p.Cys752Gly)
c.4867T>G (p.Cys1623Gly)
c.2677T>G (p.Cys893Gly)
c.2353T>G (p.Cys785Gly)
11g.118491271G>ACA382834428KMT2Ac.4871G>A (p.Cys1624Tyr)
c.548G>A (p.Cys183Tyr)
c.4772G>A (p.Cys1591Tyr)
c.4658G>A (p.Cys1553Tyr)
c.908G>A (p.Cys303Tyr)
c.2255G>A (p.Cys752Tyr)
c.4868G>A (p.Cys1623Tyr)
c.2678G>A (p.Cys893Tyr)
c.2354G>A (p.Cys785Tyr)
ClinVar dbSNP
11g.118491271G>CCA382834429KMT2Ac.4871G>C (p.Cys1624Ser)
c.548G>C (p.Cys183Ser)
c.4772G>C (p.Cys1591Ser)
c.4658G>C (p.Cys1553Ser)
c.908G>C (p.Cys303Ser)
c.2255G>C (p.Cys752Ser)
c.4868G>C (p.Cys1623Ser)
c.2678G>C (p.Cys893Ser)
c.2354G>C (p.Cys785Ser)
11g.118491271G>TCA382834427KMT2Ac.4871G>T (p.Cys1624Phe)
c.548G>T (p.Cys183Phe)
c.4772G>T (p.Cys1591Phe)
c.4658G>T (p.Cys1553Phe)
c.908G>T (p.Cys303Phe)
c.2255G>T (p.Cys752Phe)
c.4868G>T (p.Cys1623Phe)
c.2678G>T (p.Cys893Phe)
c.2354G>T (p.Cys785Phe)
11g.118491272T>ACA382834430KMT2Ac.4872T>A (p.Cys1624Ter)
c.549T>A (p.Cys183Ter)
c.4773T>A (p.Cys1591Ter)
c.4659T>A (p.Cys1553Ter)
c.909T>A (p.Cys303Ter)
c.2256T>A (p.Cys752Ter)
c.4869T>A (p.Cys1623Ter)
c.2679T>A (p.Cys893Ter)
c.2355T>A (p.Cys785Ter)
11g.118491272T>CCA477091640KMT2Ac.4872T>C (p.Cys1624=)
c.549T>C (p.Cys183=)
c.4773T>C (p.Cys1591=)
c.4659T>C (p.Cys1553=)
c.909T>C (p.Cys303=)
c.2256T>C (p.Cys752=)
c.4869T>C (p.Cys1623=)
c.2679T>C (p.Cys893=)
c.2355T>C (p.Cys785=)
dbSNP
11g.118491272T>GCA382834431KMT2Ac.4872T>G (p.Cys1624Trp)
c.549T>G (p.Cys183Trp)
c.4773T>G (p.Cys1591Trp)
c.4659T>G (p.Cys1553Trp)
c.909T>G (p.Cys303Trp)
c.2256T>G (p.Cys752Trp)
c.4869T>G (p.Cys1623Trp)
c.2679T>G (p.Cys893Trp)
c.2355T>G (p.Cys785Trp)
11g.118491272T=CA2003519150KMT2Ac.4872T= (p.Cys1624=)
c.549T= (p.Cys183=)
c.4773T= (p.Cys1591=)
c.4659T= (p.Cys1553=)
c.909T= (p.Cys303=)
c.2256T= (p.Cys752=)
c.4869T= (p.Cys1623=)
c.2679T= (p.Cys893=)
c.2355T= (p.Cys785=)
11g.118491273G>ACA382834432KMT2Ac.4873G>A (p.Asp1625Asn)
c.550G>A (p.Asp184Asn)
c.4774G>A (p.Asp1592Asn)
c.4660G>A (p.Asp1554Asn)
c.910G>A (p.Asp304Asn)
c.2257G>A (p.Asp753Asn)
c.4870G>A (p.Asp1624Asn)
c.2680G>A (p.Asp894Asn)
c.2356G>A (p.Asp786Asn)
11g.118491273G>CCA382834433KMT2Ac.4873G>C (p.Asp1625His)
c.550G>C (p.Asp184His)
c.4774G>C (p.Asp1592His)
c.4660G>C (p.Asp1554His)
c.910G>C (p.Asp304His)
c.2257G>C (p.Asp753His)
c.4870G>C (p.Asp1624His)
c.2680G>C (p.Asp894His)
c.2356G>C (p.Asp786His)
11g.118491273G>TCA382834434KMT2Ac.4873G>T (p.Asp1625Tyr)
c.550G>T (p.Asp184Tyr)
c.4774G>T (p.Asp1592Tyr)
c.4660G>T (p.Asp1554Tyr)
c.910G>T (p.Asp304Tyr)
c.2257G>T (p.Asp753Tyr)
c.4870G>T (p.Asp1624Tyr)
c.2680G>T (p.Asp894Tyr)
c.2356G>T (p.Asp786Tyr)
11g.118491274A>CCA382834437KMT2Ac.4874A>C (p.Asp1625Ala)
c.551A>C (p.Asp184Ala)
c.4775A>C (p.Asp1592Ala)
c.4661A>C (p.Asp1554Ala)
c.911A>C (p.Asp304Ala)
c.2258A>C (p.Asp753Ala)
c.4871A>C (p.Asp1624Ala)
c.2681A>C (p.Asp894Ala)
c.2357A>C (p.Asp786Ala)
11g.118491274A>GCA382834435KMT2Ac.4874A>G (p.Asp1625Gly)
c.551A>G (p.Asp184Gly)
c.4775A>G (p.Asp1592Gly)
c.4661A>G (p.Asp1554Gly)
c.911A>G (p.Asp304Gly)
c.2258A>G (p.Asp753Gly)
c.4871A>G (p.Asp1624Gly)
c.2681A>G (p.Asp894Gly)
c.2357A>G (p.Asp786Gly)
11g.118491274A>TCA382834436KMT2Ac.4874A>T (p.Asp1625Val)
c.551A>T (p.Asp184Val)
c.4775A>T (p.Asp1592Val)
c.4661A>T (p.Asp1554Val)
c.911A>T (p.Asp304Val)
c.2258A>T (p.Asp753Val)
c.4871A>T (p.Asp1624Val)
c.2681A>T (p.Asp894Val)
c.2357A>T (p.Asp786Val)
11g.118491275T>ACA382834438KMT2Ac.4875T>A (p.Asp1625Glu)
c.552T>A (p.Asp184Glu)
c.4776T>A (p.Asp1592Glu)
c.4662T>A (p.Asp1554Glu)
c.912T>A (p.Asp304Glu)
c.2259T>A (p.Asp753Glu)
c.4872T>A (p.Asp1624Glu)
c.2682T>A (p.Asp894Glu)
c.2358T>A (p.Asp786Glu)
11g.118491275T>CCA477091641KMT2Ac.4875T>C (p.Asp1625=)
c.552T>C (p.Asp184=)
c.4776T>C (p.Asp1592=)
c.4662T>C (p.Asp1554=)
c.912T>C (p.Asp304=)
c.2259T>C (p.Asp753=)
c.4872T>C (p.Asp1624=)
c.2682T>C (p.Asp894=)
c.2358T>C (p.Asp786=)
dbSNP
11g.118491275T>GCA382834439KMT2Ac.4875T>G (p.Asp1625Glu)
c.552T>G (p.Asp184Glu)
c.4776T>G (p.Asp1592Glu)
c.4662T>G (p.Asp1554Glu)
c.912T>G (p.Asp304Glu)
c.2259T>G (p.Asp753Glu)
c.4872T>G (p.Asp1624Glu)
c.2682T>G (p.Asp894Glu)
c.2358T>G (p.Asp786Glu)
11g.118491276delCA2695199024KMT2Ac.4876del (p.Arg1626AlafsTer?)
c.4876del (p.Arg1626AlafsTer30)
c.553del (p.Arg185AlafsTer?)
c.4777del (p.Arg1593AlafsTer30)
c.4777del (p.Arg1593AlafsTer?)
c.4663del (p.Arg1555AlafsTer30)
c.913del (p.Arg305AlafsTer30)
c.2260del (p.Arg754AlafsTer?)
c.4873del (p.Arg1625AlafsTer?)
c.2683del (p.Arg895AlafsTer?)
c.2359del (p.Arg787AlafsTer?)
ClinVar
11g.118491276C>ACA382834440KMT2Ac.4876C>A (p.Arg1626Ser)
c.553C>A (p.Arg185Ser)
c.4777C>A (p.Arg1593Ser)
c.4663C>A (p.Arg1555Ser)
c.913C>A (p.Arg305Ser)
c.2260C>A (p.Arg754Ser)
c.4873C>A (p.Arg1625Ser)
c.2683C>A (p.Arg895Ser)
c.2359C>A (p.Arg787Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.118491276C=CA2003519152KMT2Ac.4876C= (p.Arg1626=)
c.553C= (p.Arg185=)
c.4777C= (p.Arg1593=)
c.4663C= (p.Arg1555=)
c.913C= (p.Arg305=)
c.2260C= (p.Arg754=)
c.4873C= (p.Arg1625=)
c.2683C= (p.Arg895=)
c.2359C= (p.Arg787=)
11g.118491276C>GCA382834441KMT2Ac.4876C>G (p.Arg1626Gly)
c.553C>G (p.Arg185Gly)
c.4777C>G (p.Arg1593Gly)
c.4663C>G (p.Arg1555Gly)
c.913C>G (p.Arg305Gly)
c.2260C>G (p.Arg754Gly)
c.4873C>G (p.Arg1625Gly)
c.2683C>G (p.Arg895Gly)
c.2359C>G (p.Arg787Gly)
dbSNP
11g.118491276C>TCA382834442KMT2Ac.4876C>T (p.Arg1626Cys)
c.553C>T (p.Arg185Cys)
c.4777C>T (p.Arg1593Cys)
c.4663C>T (p.Arg1555Cys)
c.913C>T (p.Arg305Cys)
c.2260C>T (p.Arg754Cys)
c.4873C>T (p.Arg1625Cys)
c.2683C>T (p.Arg895Cys)
c.2359C>T (p.Arg787Cys)
dbSNP gnomAD v4
11g.118491277G>ACA229531399KMT2Ac.4877G>A (p.Arg1626His)
c.554G>A (p.Arg185His)
c.4778G>A (p.Arg1593His)
c.4664G>A (p.Arg1555His)
c.914G>A (p.Arg305His)
c.2261G>A (p.Arg754His)
c.4874G>A (p.Arg1625His)
c.2684G>A (p.Arg895His)
c.2360G>A (p.Arg787His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118491277G>CCA382834444KMT2Ac.4877G>C (p.Arg1626Pro)
c.554G>C (p.Arg185Pro)
c.4778G>C (p.Arg1593Pro)
c.4664G>C (p.Arg1555Pro)
c.914G>C (p.Arg305Pro)
c.2261G>C (p.Arg754Pro)
c.4874G>C (p.Arg1625Pro)
c.2684G>C (p.Arg895Pro)
c.2360G>C (p.Arg787Pro)
11g.118491277G=CA2003519155KMT2Ac.4877G= (p.Arg1626=)
c.554G= (p.Arg185=)
c.4778G= (p.Arg1593=)
c.4664G= (p.Arg1555=)
c.914G= (p.Arg305=)
c.2261G= (p.Arg754=)
c.4874G= (p.Arg1625=)
c.2684G= (p.Arg895=)
c.2360G= (p.Arg787=)
11g.118491277G>TCA382834443KMT2Ac.4877G>T (p.Arg1626Leu)
c.554G>T (p.Arg185Leu)
c.4778G>T (p.Arg1593Leu)
c.4664G>T (p.Arg1555Leu)
c.914G>T (p.Arg305Leu)
c.2261G>T (p.Arg754Leu)
c.4874G>T (p.Arg1625Leu)
c.2684G>T (p.Arg895Leu)
c.2360G>T (p.Arg787Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491278C>ACA477091644KMT2Ac.4878C>A (p.Arg1626=)
c.555C>A (p.Arg185=)
c.4779C>A (p.Arg1593=)
c.4665C>A (p.Arg1555=)
c.915C>A (p.Arg305=)
c.2262C>A (p.Arg754=)
c.4875C>A (p.Arg1625=)
c.2685C>A (p.Arg895=)
c.2361C>A (p.Arg787=)
11g.118491278C>GCA477091643KMT2Ac.4878C>G (p.Arg1626=)
c.555C>G (p.Arg185=)
c.4779C>G (p.Arg1593=)
c.4665C>G (p.Arg1555=)
c.915C>G (p.Arg305=)
c.2262C>G (p.Arg754=)
c.4875C>G (p.Arg1625=)
c.2685C>G (p.Arg895=)
c.2361C>G (p.Arg787=)
dbSNP
11g.118491278C>TCA477091642KMT2Ac.4878C>T (p.Arg1626=)
c.555C>T (p.Arg185=)
c.4779C>T (p.Arg1593=)
c.4665C>T (p.Arg1555=)
c.915C>T (p.Arg305=)
c.2262C>T (p.Arg754=)
c.4875C>T (p.Arg1625=)
c.2685C>T (p.Arg895=)
c.2361C>T (p.Arg787=)
gnomAD v4
11g.118491279T>ACA382834445KMT2Ac.4879T>A (p.Trp1627Arg)
c.556T>A (p.Trp186Arg)
c.4780T>A (p.Trp1594Arg)
c.4666T>A (p.Trp1556Arg)
c.916T>A (p.Trp306Arg)
c.2263T>A (p.Trp755Arg)
c.4876T>A (p.Trp1626Arg)
c.2686T>A (p.Trp896Arg)
c.2362T>A (p.Trp788Arg)
11g.118491279T>CCA382834447KMT2Ac.4879T>C (p.Trp1627Arg)
c.556T>C (p.Trp186Arg)
c.4780T>C (p.Trp1594Arg)
c.4666T>C (p.Trp1556Arg)
c.916T>C (p.Trp306Arg)
c.2263T>C (p.Trp755Arg)
c.4876T>C (p.Trp1626Arg)
c.2686T>C (p.Trp896Arg)
c.2362T>C (p.Trp788Arg)
11g.118491279T>GCA382834446KMT2Ac.4879T>G (p.Trp1627Gly)
c.556T>G (p.Trp186Gly)
c.4780T>G (p.Trp1594Gly)
c.4666T>G (p.Trp1556Gly)
c.916T>G (p.Trp306Gly)
c.2263T>G (p.Trp755Gly)
c.4876T>G (p.Trp1626Gly)
c.2686T>G (p.Trp896Gly)
c.2362T>G (p.Trp788Gly)
11g.118491280G>ACA382834448KMT2Ac.4880G>A (p.Trp1627Ter)
c.557G>A (p.Trp186Ter)
c.4781G>A (p.Trp1594Ter)
c.4667G>A (p.Trp1556Ter)
c.917G>A (p.Trp306Ter)
c.2264G>A (p.Trp755Ter)
c.4877G>A (p.Trp1626Ter)
c.2687G>A (p.Trp896Ter)
c.2363G>A (p.Trp788Ter)
11g.118491280G>CCA382834450KMT2Ac.4880G>C (p.Trp1627Ser)
c.557G>C (p.Trp186Ser)
c.4781G>C (p.Trp1594Ser)
c.4667G>C (p.Trp1556Ser)
c.917G>C (p.Trp306Ser)
c.2264G>C (p.Trp755Ser)
c.4877G>C (p.Trp1626Ser)
c.2687G>C (p.Trp896Ser)
c.2363G>C (p.Trp788Ser)
11g.118491280G>TCA382834449KMT2Ac.4880G>T (p.Trp1627Leu)
c.557G>T (p.Trp186Leu)
c.4781G>T (p.Trp1594Leu)
c.4667G>T (p.Trp1556Leu)
c.917G>T (p.Trp306Leu)
c.2264G>T (p.Trp755Leu)
c.4877G>T (p.Trp1626Leu)
c.2687G>T (p.Trp896Leu)
c.2363G>T (p.Trp788Leu)
11g.118491281G>ACA382834451KMT2Ac.4881G>A (p.Trp1627Ter)
c.558G>A (p.Trp186Ter)
c.4782G>A (p.Trp1594Ter)
c.4668G>A (p.Trp1556Ter)
c.918G>A (p.Trp306Ter)
c.2265G>A (p.Trp755Ter)
c.4878G>A (p.Trp1626Ter)
c.2688G>A (p.Trp896Ter)
c.2364G>A (p.Trp788Ter)
dbSNP
11g.118491281G>CCA382834453KMT2Ac.4881G>C (p.Trp1627Cys)
c.558G>C (p.Trp186Cys)
c.4782G>C (p.Trp1594Cys)
c.4668G>C (p.Trp1556Cys)
c.918G>C (p.Trp306Cys)
c.2265G>C (p.Trp755Cys)
c.4878G>C (p.Trp1626Cys)
c.2688G>C (p.Trp896Cys)
c.2364G>C (p.Trp788Cys)
ClinVar
11g.118491281G>TCA382834452KMT2Ac.4881G>T (p.Trp1627Cys)
c.558G>T (p.Trp186Cys)
c.4782G>T (p.Trp1594Cys)
c.4668G>T (p.Trp1556Cys)
c.918G>T (p.Trp306Cys)
c.2265G>T (p.Trp755Cys)
c.4878G>T (p.Trp1626Cys)
c.2688G>T (p.Trp896Cys)
c.2364G>T (p.Trp788Cys)
11g.118491282G>ACA382834454KMT2Ac.4882G>A (p.Val1628Ile)
c.559G>A (p.Val187Ile)
c.4783G>A (p.Val1595Ile)
c.4669G>A (p.Val1557Ile)
c.919G>A (p.Val307Ile)
c.2266G>A (p.Val756Ile)
c.4879G>A (p.Val1627Ile)
c.2689G>A (p.Val897Ile)
c.2365G>A (p.Val789Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118491282G>CCA382834455KMT2Ac.4882G>C (p.Val1628Leu)
c.559G>C (p.Val187Leu)
c.4783G>C (p.Val1595Leu)
c.4669G>C (p.Val1557Leu)
c.919G>C (p.Val307Leu)
c.2266G>C (p.Val756Leu)
c.4879G>C (p.Val1627Leu)
c.2689G>C (p.Val897Leu)
c.2365G>C (p.Val789Leu)
11g.118491282G=CA2003519160KMT2Ac.4882G= (p.Val1628=)
c.559G= (p.Val187=)
c.4783G= (p.Val1595=)
c.4669G= (p.Val1557=)
c.919G= (p.Val307=)
c.2266G= (p.Val756=)
c.4879G= (p.Val1627=)
c.2689G= (p.Val897=)
c.2365G= (p.Val789=)
11g.118491282G>TCA382834456KMT2Ac.4882G>T (p.Val1628Phe)
c.559G>T (p.Val187Phe)
c.4783G>T (p.Val1595Phe)
c.4669G>T (p.Val1557Phe)
c.919G>T (p.Val307Phe)
c.2266G>T (p.Val756Phe)
c.4879G>T (p.Val1627Phe)
c.2689G>T (p.Val897Phe)
c.2365G>T (p.Val789Phe)
11g.118491282_118491290delinsGTCCATTCCCA2003519163KMT2Ac.4882_4890delinsGTCCATTCC (p.Val1628=)
c.559_567delinsGTCCATTCC (p.Val187=)
c.4783_4791delinsGTCCATTCC (p.Val1595=)
c.4669_4677delinsGTCCATTCC (p.Val1557=)
c.919_927delinsGTCCATTCC (p.Val307=)
c.2266_2274delinsGTCCATTCC (p.Val756=)
c.4879_4887delinsGTCCATTCC (p.Val1627=)
c.2689_2697delinsGTCCATTCC (p.Val897=)
c.2365_2373delinsGTCCATTCC (p.Val789=)
11g.118491283T>ACA382834457KMT2Ac.4883T>A (p.Val1628Asp)
c.560T>A (p.Val187Asp)
c.4784T>A (p.Val1595Asp)
c.4670T>A (p.Val1557Asp)
c.920T>A (p.Val307Asp)
c.2267T>A (p.Val756Asp)
c.4880T>A (p.Val1627Asp)
c.2690T>A (p.Val897Asp)
c.2366T>A (p.Val789Asp)
11g.118491283T>CCA382834458KMT2Ac.4883T>C (p.Val1628Ala)
c.560T>C (p.Val187Ala)
c.4784T>C (p.Val1595Ala)
c.4670T>C (p.Val1557Ala)
c.920T>C (p.Val307Ala)
c.2267T>C (p.Val756Ala)
c.4880T>C (p.Val1627Ala)
c.2690T>C (p.Val897Ala)
c.2366T>C (p.Val789Ala)
11g.118491283T>GCA382834459KMT2Ac.4883T>G (p.Val1628Gly)
c.560T>G (p.Val187Gly)
c.4784T>G (p.Val1595Gly)
c.4670T>G (p.Val1557Gly)
c.920T>G (p.Val307Gly)
c.2267T>G (p.Val756Gly)
c.4880T>G (p.Val1627Gly)
c.2690T>G (p.Val897Gly)
c.2366T>G (p.Val789Gly)
11g.118491283_118491290delCA2003519165KMT2Ac.4883_4890del (p.Val1628GlufsTer3)
c.560_567del (p.Val187GlufsTer3)
c.4784_4791del (p.Val1595GlufsTer3)
c.4670_4677del (p.Val1557GlufsTer3)
c.920_927del (p.Val307GlufsTer3)
c.2267_2274del (p.Val756GlufsTer3)
c.4880_4887del (p.Val1627GlufsTer3)
c.2690_2697del (p.Val897GlufsTer3)
c.2366_2373del (p.Val789GlufsTer3)
dbSNP
11g.118491284C>ACA477091645KMT2Ac.4884C>A (p.Val1628=)
c.561C>A (p.Val187=)
c.4785C>A (p.Val1595=)
c.4671C>A (p.Val1557=)
c.921C>A (p.Val307=)
c.2268C>A (p.Val756=)
c.4881C>A (p.Val1627=)
c.2691C>A (p.Val897=)
c.2367C>A (p.Val789=)
dbSNP
11g.118491284C>GCA477091648KMT2Ac.4884C>G (p.Val1628=)
c.561C>G (p.Val187=)
c.4785C>G (p.Val1595=)
c.4671C>G (p.Val1557=)
c.921C>G (p.Val307=)
c.2268C>G (p.Val756=)
c.4881C>G (p.Val1627=)
c.2691C>G (p.Val897=)
c.2367C>G (p.Val789=)
ClinVar dbSNP
11g.118491284C>TCA477091646KMT2Ac.4884C>T (p.Val1628=)
c.561C>T (p.Val187=)
c.4785C>T (p.Val1595=)
c.4671C>T (p.Val1557=)
c.921C>T (p.Val307=)
c.2268C>T (p.Val756=)
c.4881C>T (p.Val1627=)
c.2691C>T (p.Val897=)
c.2367C>T (p.Val789=)
11g.118491285C>ACA382834460KMT2Ac.4885C>A (p.His1629Asn)
c.562C>A (p.His188Asn)
c.4786C>A (p.His1596Asn)
c.4672C>A (p.His1558Asn)
c.922C>A (p.His308Asn)
c.2269C>A (p.His757Asn)
c.4882C>A (p.His1628Asn)
c.2692C>A (p.His898Asn)
c.2368C>A (p.His790Asn)
11g.118491285C>GCA382834461KMT2Ac.4885C>G (p.His1629Asp)
c.562C>G (p.His188Asp)
c.4786C>G (p.His1596Asp)
c.4672C>G (p.His1558Asp)
c.922C>G (p.His308Asp)
c.2269C>G (p.His757Asp)
c.4882C>G (p.His1628Asp)
c.2692C>G (p.His898Asp)
c.2368C>G (p.His790Asp)
11g.118491285C>TCA382834462KMT2Ac.4885C>T (p.His1629Tyr)
c.562C>T (p.His188Tyr)
c.4786C>T (p.His1596Tyr)
c.4672C>T (p.His1558Tyr)
c.922C>T (p.His308Tyr)
c.2269C>T (p.His757Tyr)
c.4882C>T (p.His1628Tyr)
c.2692C>T (p.His898Tyr)
c.2368C>T (p.His790Tyr)
COSMIC COSMIC
11g.118491286A>CCA382834463KMT2Ac.4886A>C (p.His1629Pro)
c.563A>C (p.His188Pro)
c.4787A>C (p.His1596Pro)
c.4673A>C (p.His1558Pro)
c.923A>C (p.His308Pro)
c.2270A>C (p.His757Pro)
c.4883A>C (p.His1628Pro)
c.2693A>C (p.His898Pro)
c.2369A>C (p.His790Pro)
11g.118491286A>GCA382834464KMT2Ac.4886A>G (p.His1629Arg)
c.563A>G (p.His188Arg)
c.4787A>G (p.His1596Arg)
c.4673A>G (p.His1558Arg)
c.923A>G (p.His308Arg)
c.2270A>G (p.His757Arg)
c.4883A>G (p.His1628Arg)
c.2693A>G (p.His898Arg)
c.2369A>G (p.His790Arg)
11g.118491286A>TCA382834465KMT2Ac.4886A>T (p.His1629Leu)
c.563A>T (p.His188Leu)
c.4787A>T (p.His1596Leu)
c.4673A>T (p.His1558Leu)
c.923A>T (p.His308Leu)
c.2270A>T (p.His757Leu)
c.4883A>T (p.His1628Leu)
c.2693A>T (p.His898Leu)
c.2369A>T (p.His790Leu)
11g.118491287T>ACA382834466KMT2Ac.4887T>A (p.His1629Gln)
c.564T>A (p.His188Gln)
c.4788T>A (p.His1596Gln)
c.4674T>A (p.His1558Gln)
c.924T>A (p.His308Gln)
c.2271T>A (p.His757Gln)
c.4884T>A (p.His1628Gln)
c.2694T>A (p.His898Gln)
c.2370T>A (p.His790Gln)
11g.118491287T>CCA477091649KMT2Ac.4887T>C (p.His1629=)
c.564T>C (p.His188=)
c.4788T>C (p.His1596=)
c.4674T>C (p.His1558=)
c.924T>C (p.His308=)
c.2271T>C (p.His757=)
c.4884T>C (p.His1628=)
c.2694T>C (p.His898=)
c.2370T>C (p.His790=)
dbSNP gnomAD v2 gnomAD v4
11g.118491287T>GCA382834467KMT2Ac.4887T>G (p.His1629Gln)
c.564T>G (p.His188Gln)
c.4788T>G (p.His1596Gln)
c.4674T>G (p.His1558Gln)
c.924T>G (p.His308Gln)
c.2271T>G (p.His757Gln)
c.4884T>G (p.His1628Gln)
c.2694T>G (p.His898Gln)
c.2370T>G (p.His790Gln)
11g.118491287T=CA2003519168KMT2Ac.4887T= (p.His1629=)
c.564T= (p.His188=)
c.4788T= (p.His1596=)
c.4674T= (p.His1558=)
c.924T= (p.His308=)
c.2271T= (p.His757=)
c.4884T= (p.His1628=)
c.2694T= (p.His898=)
c.2370T= (p.His790=)
11g.118491288T>ACA382834468KMT2Ac.4888T>A (p.Ser1630Thr)
c.565T>A (p.Ser189Thr)
c.4789T>A (p.Ser1597Thr)
c.4675T>A (p.Ser1559Thr)
c.925T>A (p.Ser309Thr)
c.2272T>A (p.Ser758Thr)
c.4885T>A (p.Ser1629Thr)
c.2695T>A (p.Ser899Thr)
c.2371T>A (p.Ser791Thr)
11g.118491288T>CCA382834469KMT2Ac.4888T>C (p.Ser1630Pro)
c.565T>C (p.Ser189Pro)
c.4789T>C (p.Ser1597Pro)
c.4675T>C (p.Ser1559Pro)
c.925T>C (p.Ser309Pro)
c.2272T>C (p.Ser758Pro)
c.4885T>C (p.Ser1629Pro)
c.2695T>C (p.Ser899Pro)
c.2371T>C (p.Ser791Pro)
11g.118491288T>GCA382834470KMT2Ac.4888T>G (p.Ser1630Ala)
c.565T>G (p.Ser189Ala)
c.4789T>G (p.Ser1597Ala)
c.4675T>G (p.Ser1559Ala)
c.925T>G (p.Ser309Ala)
c.2272T>G (p.Ser758Ala)
c.4885T>G (p.Ser1629Ala)
c.2695T>G (p.Ser899Ala)
c.2371T>G (p.Ser791Ala)
11g.118491289C>ACA382834471KMT2Ac.4889C>A (p.Ser1630Tyr)
c.566C>A (p.Ser189Tyr)
c.4790C>A (p.Ser1597Tyr)
c.4676C>A (p.Ser1559Tyr)
c.926C>A (p.Ser309Tyr)
c.2273C>A (p.Ser758Tyr)
c.4886C>A (p.Ser1629Tyr)
c.2696C>A (p.Ser899Tyr)
c.2372C>A (p.Ser791Tyr)
dbSNP
11g.118491289C>GCA382834472KMT2Ac.4889C>G (p.Ser1630Cys)
c.566C>G (p.Ser189Cys)
c.4790C>G (p.Ser1597Cys)
c.4676C>G (p.Ser1559Cys)
c.926C>G (p.Ser309Cys)
c.2273C>G (p.Ser758Cys)
c.4886C>G (p.Ser1629Cys)
c.2696C>G (p.Ser899Cys)
c.2372C>G (p.Ser791Cys)
11g.118491289C>TCA382834473KMT2Ac.4889C>T (p.Ser1630Phe)
c.566C>T (p.Ser189Phe)
c.4790C>T (p.Ser1597Phe)
c.4676C>T (p.Ser1559Phe)
c.926C>T (p.Ser309Phe)
c.2273C>T (p.Ser758Phe)
c.4886C>T (p.Ser1629Phe)
c.2696C>T (p.Ser899Phe)
c.2372C>T (p.Ser791Phe)
11g.118491290C>ACA477091652KMT2Ac.4890C>A (p.Ser1630=)
c.567C>A (p.Ser189=)
c.4791C>A (p.Ser1597=)
c.4677C>A (p.Ser1559=)
c.927C>A (p.Ser309=)
c.2274C>A (p.Ser758=)
c.4887C>A (p.Ser1629=)
c.2697C>A (p.Ser899=)
c.2373C>A (p.Ser791=)
dbSNP
11g.118491290C>GCA477091653KMT2Ac.4890C>G (p.Ser1630=)
c.567C>G (p.Ser189=)
c.4791C>G (p.Ser1597=)
c.4677C>G (p.Ser1559=)
c.927C>G (p.Ser309=)
c.2274C>G (p.Ser758=)
c.4887C>G (p.Ser1629=)
c.2697C>G (p.Ser899=)
c.2373C>G (p.Ser791=)
11g.118491290C>TCA477091654KMT2Ac.4890C>T (p.Ser1630=)
c.567C>T (p.Ser189=)
c.4791C>T (p.Ser1597=)
c.4677C>T (p.Ser1559=)
c.927C>T (p.Ser309=)
c.2274C>T (p.Ser758=)
c.4887C>T (p.Ser1629=)
c.2697C>T (p.Ser899=)
c.2373C>T (p.Ser791=)
COSMIC COSMIC
11g.118491291A>CCA382834474KMT2Ac.4891A>C (p.Lys1631Gln)
c.568A>C (p.Lys190Gln)
c.4792A>C (p.Lys1598Gln)
c.4678A>C (p.Lys1560Gln)
c.928A>C (p.Lys310Gln)
c.2275A>C (p.Lys759Gln)
c.4888A>C (p.Lys1630Gln)
c.2698A>C (p.Lys900Gln)
c.2374A>C (p.Lys792Gln)
11g.118491291A>GCA382834475KMT2Ac.4891A>G (p.Lys1631Glu)
c.568A>G (p.Lys190Glu)
c.4792A>G (p.Lys1598Glu)
c.4678A>G (p.Lys1560Glu)
c.928A>G (p.Lys310Glu)
c.2275A>G (p.Lys759Glu)
c.4888A>G (p.Lys1630Glu)
c.2698A>G (p.Lys900Glu)
c.2374A>G (p.Lys792Glu)
11g.118491291A>TCA382834476KMT2Ac.4891A>T (p.Lys1631Ter)
c.568A>T (p.Lys190Ter)
c.4792A>T (p.Lys1598Ter)
c.4678A>T (p.Lys1560Ter)
c.928A>T (p.Lys310Ter)
c.2275A>T (p.Lys759Ter)
c.4888A>T (p.Lys1630Ter)
c.2698A>T (p.Lys900Ter)
c.2374A>T (p.Lys792Ter)
11g.118491292A>CCA382834479KMT2Ac.4892A>C (p.Lys1631Thr)
c.569A>C (p.Lys190Thr)
c.4793A>C (p.Lys1598Thr)
c.4679A>C (p.Lys1560Thr)
c.929A>C (p.Lys310Thr)
c.2276A>C (p.Lys759Thr)
c.4889A>C (p.Lys1630Thr)
c.2699A>C (p.Lys900Thr)
c.2375A>C (p.Lys792Thr)
11g.118491292A>GCA382834478KMT2Ac.4892A>G (p.Lys1631Arg)
c.569A>G (p.Lys190Arg)
c.4793A>G (p.Lys1598Arg)
c.4679A>G (p.Lys1560Arg)
c.929A>G (p.Lys310Arg)
c.2276A>G (p.Lys759Arg)
c.4889A>G (p.Lys1630Arg)
c.2699A>G (p.Lys900Arg)
c.2375A>G (p.Lys792Arg)
11g.118491292A>TCA382834477KMT2Ac.4892A>T (p.Lys1631Ile)
c.569A>T (p.Lys190Ile)
c.4793A>T (p.Lys1598Ile)
c.4679A>T (p.Lys1560Ile)
c.929A>T (p.Lys310Ile)
c.2276A>T (p.Lys759Ile)
c.4889A>T (p.Lys1630Ile)
c.2699A>T (p.Lys900Ile)
c.2375A>T (p.Lys792Ile)
11g.118491293A>CCA382834480KMT2Ac.4893A>C (p.Lys1631Asn)
c.570A>C (p.Lys190Asn)
c.4794A>C (p.Lys1598Asn)
c.4680A>C (p.Lys1560Asn)
c.930A>C (p.Lys310Asn)
c.2277A>C (p.Lys759Asn)
c.4890A>C (p.Lys1630Asn)
c.2700A>C (p.Lys900Asn)
c.2376A>C (p.Lys792Asn)
11g.118491293A>GCA477091656KMT2Ac.4893A>G (p.Lys1631=)
c.570A>G (p.Lys190=)
c.4794A>G (p.Lys1598=)
c.4680A>G (p.Lys1560=)
c.930A>G (p.Lys310=)
c.2277A>G (p.Lys759=)
c.4890A>G (p.Lys1630=)
c.2700A>G (p.Lys900=)
c.2376A>G (p.Lys792=)
11g.118491293A>TCA382834481KMT2Ac.4893A>T (p.Lys1631Asn)
c.570A>T (p.Lys190Asn)
c.4794A>T (p.Lys1598Asn)
c.4680A>T (p.Lys1560Asn)
c.930A>T (p.Lys310Asn)
c.2277A>T (p.Lys759Asn)
c.4890A>T (p.Lys1630Asn)
c.2700A>T (p.Lys900Asn)
c.2376A>T (p.Lys792Asn)
11g.118491293_118491294delinsATCA2003519170KMT2Ac.4893_4894delinsAT (p.Lys1631=)
c.570_571delinsAT (p.Lys190=)
c.4794_4795delinsAT (p.Lys1598=)
c.4680_4681delinsAT (p.Lys1560=)
c.930_931delinsAT (p.Lys310=)
c.2277_2278delinsAT (p.Lys759=)
c.4890_4891delinsAT (p.Lys1630=)
c.2700_2701delinsAT (p.Lys900=)
c.2376_2377delinsAT (p.Lys792=)
11g.118491294delCA2003519171KMT2Ac.4894del (p.Cys1632ValfsTer27)
c.4894del (p.Cys1632ValfsTer24)
c.571del (p.Cys191ValfsTer27)
c.4795del (p.Cys1599ValfsTer24)
c.4795del (p.Cys1599ValfsTer27)
c.4681del (p.Cys1561ValfsTer24)
c.931del (p.Cys311ValfsTer24)
c.2278del (p.Cys760ValfsTer27)
c.4891del (p.Cys1631ValfsTer27)
c.2701del (p.Cys901ValfsTer27)
c.2377del (p.Cys793ValfsTer27)
dbSNP
11g.118491294T>ACA382834482KMT2Ac.4894T>A (p.Cys1632Ser)
c.571T>A (p.Cys191Ser)
c.4795T>A (p.Cys1599Ser)
c.4681T>A (p.Cys1561Ser)
c.931T>A (p.Cys311Ser)
c.2278T>A (p.Cys760Ser)
c.4891T>A (p.Cys1631Ser)
c.2701T>A (p.Cys901Ser)
c.2377T>A (p.Cys793Ser)
11g.118491294T>CCA382834483KMT2Ac.4894T>C (p.Cys1632Arg)
c.571T>C (p.Cys191Arg)
c.4795T>C (p.Cys1599Arg)
c.4681T>C (p.Cys1561Arg)
c.931T>C (p.Cys311Arg)
c.2278T>C (p.Cys760Arg)
c.4891T>C (p.Cys1631Arg)
c.2701T>C (p.Cys901Arg)
c.2377T>C (p.Cys793Arg)
11g.118491294T>GCA382834484KMT2Ac.4894T>G (p.Cys1632Gly)
c.571T>G (p.Cys191Gly)
c.4795T>G (p.Cys1599Gly)
c.4681T>G (p.Cys1561Gly)
c.931T>G (p.Cys311Gly)
c.2278T>G (p.Cys760Gly)
c.4891T>G (p.Cys1631Gly)
c.2701T>G (p.Cys901Gly)
c.2377T>G (p.Cys793Gly)
11g.118491295G>ACA382834485KMT2Ac.4895G>A (p.Cys1632Tyr)
c.572G>A (p.Cys191Tyr)
c.4796G>A (p.Cys1599Tyr)
c.4682G>A (p.Cys1561Tyr)
c.932G>A (p.Cys311Tyr)
c.2279G>A (p.Cys760Tyr)
c.4892G>A (p.Cys1631Tyr)
c.2702G>A (p.Cys901Tyr)
c.2378G>A (p.Cys793Tyr)
dbSNP
11g.118491295G>CCA382834486KMT2Ac.4895G>C (p.Cys1632Ser)
c.572G>C (p.Cys191Ser)
c.4796G>C (p.Cys1599Ser)
c.4682G>C (p.Cys1561Ser)
c.932G>C (p.Cys311Ser)
c.2279G>C (p.Cys760Ser)
c.4892G>C (p.Cys1631Ser)
c.2702G>C (p.Cys901Ser)
c.2378G>C (p.Cys793Ser)
gnomAD v4
11g.118491295G>TCA382834487KMT2Ac.4895G>T (p.Cys1632Phe)
c.572G>T (p.Cys191Phe)
c.4796G>T (p.Cys1599Phe)
c.4682G>T (p.Cys1561Phe)
c.932G>T (p.Cys311Phe)
c.2279G>T (p.Cys760Phe)
c.4892G>T (p.Cys1631Phe)
c.2702G>T (p.Cys901Phe)
c.2378G>T (p.Cys793Phe)
11g.118491296T>ACA382834488KMT2Ac.4896T>A (p.Cys1632Ter)
c.573T>A (p.Cys191Ter)
c.4797T>A (p.Cys1599Ter)
c.4683T>A (p.Cys1561Ter)
c.933T>A (p.Cys311Ter)
c.2280T>A (p.Cys760Ter)
c.4893T>A (p.Cys1631Ter)
c.2703T>A (p.Cys901Ter)
c.2379T>A (p.Cys793Ter)
11g.118491296T>CCA477091660KMT2Ac.4896T>C (p.Cys1632=)
c.573T>C (p.Cys191=)
c.4797T>C (p.Cys1599=)
c.4683T>C (p.Cys1561=)
c.933T>C (p.Cys311=)
c.2280T>C (p.Cys760=)
c.4893T>C (p.Cys1631=)
c.2703T>C (p.Cys901=)
c.2379T>C (p.Cys793=)
11g.118491296T>GCA382834489KMT2Ac.4896T>G (p.Cys1632Trp)
c.573T>G (p.Cys191Trp)
c.4797T>G (p.Cys1599Trp)
c.4683T>G (p.Cys1561Trp)
c.933T>G (p.Cys311Trp)
c.2280T>G (p.Cys760Trp)
c.4893T>G (p.Cys1631Trp)
c.2703T>G (p.Cys901Trp)
c.2379T>G (p.Cys793Trp)
11g.118491297G>ACA382834490KMT2Ac.4897G>A (p.Glu1633Lys)
c.574G>A (p.Glu192Lys)
c.4798G>A (p.Glu1600Lys)
c.4684G>A (p.Glu1562Lys)
c.934G>A (p.Glu312Lys)
c.2281G>A (p.Glu761Lys)
c.4894G>A (p.Glu1632Lys)
c.2704G>A (p.Glu902Lys)
c.2380G>A (p.Glu794Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118491297G>CCA382834491KMT2Ac.4897G>C (p.Glu1633Gln)
c.574G>C (p.Glu192Gln)
c.4798G>C (p.Glu1600Gln)
c.4684G>C (p.Glu1562Gln)
c.934G>C (p.Glu312Gln)
c.2281G>C (p.Glu761Gln)
c.4894G>C (p.Glu1632Gln)
c.2704G>C (p.Glu902Gln)
c.2380G>C (p.Glu794Gln)
11g.118491297G=CA2003519175KMT2Ac.4897G= (p.Glu1633=)
c.574G= (p.Glu192=)
c.4798G= (p.Glu1600=)
c.4684G= (p.Glu1562=)
c.934G= (p.Glu312=)
c.2281G= (p.Glu761=)
c.4894G= (p.Glu1632=)
c.2704G= (p.Glu902=)
c.2380G= (p.Glu794=)
11g.118491297G>TCA382834492KMT2Ac.4897G>T (p.Glu1633Ter)
c.574G>T (p.Glu192Ter)
c.4798G>T (p.Glu1600Ter)
c.4684G>T (p.Glu1562Ter)
c.934G>T (p.Glu312Ter)
c.2281G>T (p.Glu761Ter)
c.4894G>T (p.Glu1632Ter)
c.2704G>T (p.Glu902Ter)
c.2380G>T (p.Glu794Ter)
11g.118491298A>CCA382834493KMT2Ac.4898A>C (p.Glu1633Ala)
c.575A>C (p.Glu192Ala)
c.4799A>C (p.Glu1600Ala)
c.4685A>C (p.Glu1562Ala)
c.935A>C (p.Glu312Ala)
c.2282A>C (p.Glu761Ala)
c.4895A>C (p.Glu1632Ala)
c.2705A>C (p.Glu902Ala)
c.2381A>C (p.Glu794Ala)
11g.118491298A>GCA382834495KMT2Ac.4898A>G (p.Glu1633Gly)
c.575A>G (p.Glu192Gly)
c.4799A>G (p.Glu1600Gly)
c.4685A>G (p.Glu1562Gly)
c.935A>G (p.Glu312Gly)
c.2282A>G (p.Glu761Gly)
c.4895A>G (p.Glu1632Gly)
c.2705A>G (p.Glu902Gly)
c.2381A>G (p.Glu794Gly)
11g.118491298A>TCA382834494KMT2Ac.4898A>T (p.Glu1633Val)
c.575A>T (p.Glu192Val)
c.4799A>T (p.Glu1600Val)
c.4685A>T (p.Glu1562Val)
c.935A>T (p.Glu312Val)
c.2282A>T (p.Glu761Val)
c.4895A>T (p.Glu1632Val)
c.2705A>T (p.Glu902Val)
c.2381A>T (p.Glu794Val)
11g.118491299G>ACA477091661KMT2Ac.4899G>A (p.Glu1633=)
c.576G>A (p.Glu192=)
c.4800G>A (p.Glu1600=)
c.4686G>A (p.Glu1562=)
c.936G>A (p.Glu312=)
c.2283G>A (p.Glu761=)
c.4896G>A (p.Glu1632=)
c.2706G>A (p.Glu902=)
c.2382G>A (p.Glu794=)
dbSNP gnomAD v4
11g.118491299G>CCA382834496KMT2Ac.4899G>C (p.Glu1633Asp)
c.576G>C (p.Glu192Asp)
c.4800G>C (p.Glu1600Asp)
c.4686G>C (p.Glu1562Asp)
c.936G>C (p.Glu312Asp)
c.2283G>C (p.Glu761Asp)
c.4896G>C (p.Glu1632Asp)
c.2706G>C (p.Glu902Asp)
c.2382G>C (p.Glu794Asp)
gnomAD v4
11g.118491299G=CA2003519177KMT2Ac.4899G= (p.Glu1633=)
c.576G= (p.Glu192=)
c.4800G= (p.Glu1600=)
c.4686G= (p.Glu1562=)
c.936G= (p.Glu312=)
c.2283G= (p.Glu761=)
c.4896G= (p.Glu1632=)
c.2706G= (p.Glu902=)
c.2382G= (p.Glu794=)
11g.118491299G>TCA382834497KMT2Ac.4899G>T (p.Glu1633Asp)
c.576G>T (p.Glu192Asp)
c.4800G>T (p.Glu1600Asp)
c.4686G>T (p.Glu1562Asp)
c.936G>T (p.Glu312Asp)
c.2283G>T (p.Glu761Asp)
c.4896G>T (p.Glu1632Asp)
c.2706G>T (p.Glu902Asp)
c.2382G>T (p.Glu794Asp)
11g.118491300A>CCA382834498KMT2Ac.4900A>C (p.Asn1634His)
c.577A>C (p.Asn193His)
c.4801A>C (p.Asn1601His)
c.4687A>C (p.Asn1563His)
c.937A>C (p.Asn313His)
c.2284A>C (p.Asn762His)
c.4897A>C (p.Asn1633His)
c.2707A>C (p.Asn903His)
c.2383A>C (p.Asn795His)
11g.118491300A>GCA382834499KMT2Ac.4900A>G (p.Asn1634Asp)
c.577A>G (p.Asn193Asp)
c.4801A>G (p.Asn1601Asp)
c.4687A>G (p.Asn1563Asp)
c.937A>G (p.Asn313Asp)
c.2284A>G (p.Asn762Asp)
c.4897A>G (p.Asn1633Asp)
c.2707A>G (p.Asn903Asp)
c.2383A>G (p.Asn795Asp)
11g.118491300A>TCA382834500KMT2Ac.4900A>T (p.Asn1634Tyr)
c.577A>T (p.Asn193Tyr)
c.4801A>T (p.Asn1601Tyr)
c.4687A>T (p.Asn1563Tyr)
c.937A>T (p.Asn313Tyr)
c.2284A>T (p.Asn762Tyr)
c.4897A>T (p.Asn1633Tyr)
c.2707A>T (p.Asn903Tyr)
c.2383A>T (p.Asn795Tyr)
11g.118491301A>CCA382834501KMT2Ac.4901A>C (p.Asn1634Thr)
c.578A>C (p.Asn193Thr)
c.4802A>C (p.Asn1601Thr)
c.4688A>C (p.Asn1563Thr)
c.938A>C (p.Asn313Thr)
c.2285A>C (p.Asn762Thr)
c.4898A>C (p.Asn1633Thr)
c.2708A>C (p.Asn903Thr)
c.2384A>C (p.Asn795Thr)
gnomAD v4
11g.118491301A>GCA382834502KMT2Ac.4901A>G (p.Asn1634Ser)
c.578A>G (p.Asn193Ser)
c.4802A>G (p.Asn1601Ser)
c.4688A>G (p.Asn1563Ser)
c.938A>G (p.Asn313Ser)
c.2285A>G (p.Asn762Ser)
c.4898A>G (p.Asn1633Ser)
c.2708A>G (p.Asn903Ser)
c.2384A>G (p.Asn795Ser)
11g.118491301A>TCA382834503KMT2Ac.4901A>T (p.Asn1634Ile)
c.578A>T (p.Asn193Ile)
c.4802A>T (p.Asn1601Ile)
c.4688A>T (p.Asn1563Ile)
c.938A>T (p.Asn313Ile)
c.2285A>T (p.Asn762Ile)
c.4898A>T (p.Asn1633Ile)
c.2708A>T (p.Asn903Ile)
c.2384A>T (p.Asn795Ile)
11g.118491302T>ACA382834504KMT2Ac.4902T>A (p.Asn1634Lys)
c.579T>A (p.Asn193Lys)
c.4803T>A (p.Asn1601Lys)
c.4689T>A (p.Asn1563Lys)
c.939T>A (p.Asn313Lys)
c.2286T>A (p.Asn762Lys)
c.4899T>A (p.Asn1633Lys)
c.2709T>A (p.Asn903Lys)
c.2385T>A (p.Asn795Lys)
11g.118491302T>CCA477091663KMT2Ac.4902T>C (p.Asn1634=)
c.579T>C (p.Asn193=)
c.4803T>C (p.Asn1601=)
c.4689T>C (p.Asn1563=)
c.939T>C (p.Asn313=)
c.2286T>C (p.Asn762=)
c.4899T>C (p.Asn1633=)
c.2709T>C (p.Asn903=)
c.2385T>C (p.Asn795=)
11g.118491302T>GCA382834505KMT2Ac.4902T>G (p.Asn1634Lys)
c.579T>G (p.Asn193Lys)
c.4803T>G (p.Asn1601Lys)
c.4689T>G (p.Asn1563Lys)
c.939T>G (p.Asn313Lys)
c.2286T>G (p.Asn762Lys)
c.4899T>G (p.Asn1633Lys)
c.2709T>G (p.Asn903Lys)
c.2385T>G (p.Asn795Lys)
11g.118491303C>ACA382834507KMT2Ac.4903C>A (p.Leu1635Ile)
c.580C>A (p.Leu194Ile)
c.4804C>A (p.Leu1602Ile)
c.4690C>A (p.Leu1564Ile)
c.940C>A (p.Leu314Ile)
c.2287C>A (p.Leu763Ile)
c.4900C>A (p.Leu1634Ile)
c.2710C>A (p.Leu904Ile)
c.2386C>A (p.Leu796Ile)
COSMIC COSMIC
11g.118491303C>GCA382834508KMT2Ac.4903C>G (p.Leu1635Val)
c.580C>G (p.Leu194Val)
c.4804C>G (p.Leu1602Val)
c.4690C>G (p.Leu1564Val)
c.940C>G (p.Leu314Val)
c.2287C>G (p.Leu763Val)
c.4900C>G (p.Leu1634Val)
c.2710C>G (p.Leu904Val)
c.2386C>G (p.Leu796Val)
dbSNP
11g.118491303C>TCA382834506KMT2Ac.4903C>T (p.Leu1635Phe)
c.580C>T (p.Leu194Phe)
c.4804C>T (p.Leu1602Phe)
c.4690C>T (p.Leu1564Phe)
c.940C>T (p.Leu314Phe)
c.2287C>T (p.Leu763Phe)
c.4900C>T (p.Leu1634Phe)
c.2710C>T (p.Leu904Phe)
c.2386C>T (p.Leu796Phe)
11g.118491304T>ACA382834511KMT2Ac.4904T>A (p.Leu1635His)
c.581T>A (p.Leu194His)
c.4805T>A (p.Leu1602His)
c.4691T>A (p.Leu1564His)
c.941T>A (p.Leu314His)
c.2288T>A (p.Leu763His)
c.4901T>A (p.Leu1634His)
c.2711T>A (p.Leu904His)
c.2387T>A (p.Leu796His)
11g.118491304T>CCA382834509KMT2Ac.4904T>C (p.Leu1635Pro)
c.581T>C (p.Leu194Pro)
c.4805T>C (p.Leu1602Pro)
c.4691T>C (p.Leu1564Pro)
c.941T>C (p.Leu314Pro)
c.2288T>C (p.Leu763Pro)
c.4901T>C (p.Leu1634Pro)
c.2711T>C (p.Leu904Pro)
c.2387T>C (p.Leu796Pro)
11g.118491304T>GCA382834510KMT2Ac.4904T>G (p.Leu1635Arg)
c.581T>G (p.Leu194Arg)
c.4805T>G (p.Leu1602Arg)
c.4691T>G (p.Leu1564Arg)
c.941T>G (p.Leu314Arg)
c.2288T>G (p.Leu763Arg)
c.4901T>G (p.Leu1634Arg)
c.2711T>G (p.Leu904Arg)
c.2387T>G (p.Leu796Arg)
11g.118491305T>ACA477091664KMT2Ac.4905T>A (p.Leu1635=)
c.582T>A (p.Leu194=)
c.4806T>A (p.Leu1602=)
c.4692T>A (p.Leu1564=)
c.942T>A (p.Leu314=)
c.2289T>A (p.Leu763=)
c.4902T>A (p.Leu1634=)
c.2712T>A (p.Leu904=)
c.2388T>A (p.Leu796=)
11g.118491305T>CCA477091666KMT2Ac.4905T>C (p.Leu1635=)
c.582T>C (p.Leu194=)
c.4806T>C (p.Leu1602=)
c.4692T>C (p.Leu1564=)
c.942T>C (p.Leu314=)
c.2289T>C (p.Leu763=)
c.4902T>C (p.Leu1634=)
c.2712T>C (p.Leu904=)
c.2388T>C (p.Leu796=)
gnomAD v4
11g.118491305T>GCA477091665KMT2Ac.4905T>G (p.Leu1635=)
c.582T>G (p.Leu194=)
c.4806T>G (p.Leu1602=)
c.4692T>G (p.Leu1564=)
c.942T>G (p.Leu314=)
c.2289T>G (p.Leu763=)
c.4902T>G (p.Leu1634=)
c.2712T>G (p.Leu904=)
c.2388T>G (p.Leu796=)
11g.118491306T>ACA382834512KMT2Ac.4906T>A (p.Ser1636Thr)
c.583T>A (p.Ser195Thr)
c.4807T>A (p.Ser1603Thr)
c.4693T>A (p.Ser1565Thr)
c.943T>A (p.Ser315Thr)
c.2290T>A (p.Ser764Thr)
c.4903T>A (p.Ser1635Thr)
c.2713T>A (p.Ser905Thr)
c.2389T>A (p.Ser797Thr)
11g.118491306T>CCA6303943KMT2Ac.4906T>C (p.Ser1636Pro)
c.583T>C (p.Ser195Pro)
c.4807T>C (p.Ser1603Pro)
c.4693T>C (p.Ser1565Pro)
c.943T>C (p.Ser315Pro)
c.2290T>C (p.Ser764Pro)
c.4903T>C (p.Ser1635Pro)
c.2713T>C (p.Ser905Pro)
c.2389T>C (p.Ser797Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118491306T>GCA382834513KMT2Ac.4906T>G (p.Ser1636Ala)
c.583T>G (p.Ser195Ala)
c.4807T>G (p.Ser1603Ala)
c.4693T>G (p.Ser1565Ala)
c.943T>G (p.Ser315Ala)
c.2290T>G (p.Ser764Ala)
c.4903T>G (p.Ser1635Ala)
c.2713T>G (p.Ser905Ala)
c.2389T>G (p.Ser797Ala)
11g.118491306T=CA2003519180KMT2Ac.4906T= (p.Ser1636=)
c.583T= (p.Ser195=)
c.4807T= (p.Ser1603=)
c.4693T= (p.Ser1565=)
c.943T= (p.Ser315=)
c.2290T= (p.Ser764=)
c.4903T= (p.Ser1635=)
c.2713T= (p.Ser905=)
c.2389T= (p.Ser797=)
11g.118491307C>ACA382834514KMT2Ac.4907C>A (p.Ser1636Ter)
c.584C>A (p.Ser195Ter)
c.4808C>A (p.Ser1603Ter)
c.4694C>A (p.Ser1565Ter)
c.944C>A (p.Ser315Ter)
c.2291C>A (p.Ser764Ter)
c.4904C>A (p.Ser1635Ter)
c.2714C>A (p.Ser905Ter)
c.2390C>A (p.Ser797Ter)
11g.118491307C>GCA382834515KMT2Ac.4907C>G (p.Ser1636Ter)
c.584C>G (p.Ser195Ter)
c.4808C>G (p.Ser1603Ter)
c.4694C>G (p.Ser1565Ter)
c.944C>G (p.Ser315Ter)
c.2291C>G (p.Ser764Ter)
c.4904C>G (p.Ser1635Ter)
c.2714C>G (p.Ser905Ter)
c.2390C>G (p.Ser797Ter)
11g.118491307C>TCA382834516KMT2Ac.4907C>T (p.Ser1636Leu)
c.584C>T (p.Ser195Leu)
c.4808C>T (p.Ser1603Leu)
c.4694C>T (p.Ser1565Leu)
c.944C>T (p.Ser315Leu)
c.2291C>T (p.Ser764Leu)
c.4904C>T (p.Ser1635Leu)
c.2714C>T (p.Ser905Leu)
c.2390C>T (p.Ser797Leu)
ClinVar dbSNP
11g.118491308A>CCA477091668KMT2Ac.4908A>C (p.Ser1636=)
c.585A>C (p.Ser195=)
c.4809A>C (p.Ser1603=)
c.4695A>C (p.Ser1565=)
c.945A>C (p.Ser315=)
c.2292A>C (p.Ser764=)
c.4905A>C (p.Ser1635=)
c.2715A>C (p.Ser905=)
c.2391A>C (p.Ser797=)
gnomAD v4
11g.118491308A>GCA477091669KMT2Ac.4908A>G (p.Ser1636=)
c.585A>G (p.Ser195=)
c.4809A>G (p.Ser1603=)
c.4695A>G (p.Ser1565=)
c.945A>G (p.Ser315=)
c.2292A>G (p.Ser764=)
c.4905A>G (p.Ser1635=)
c.2715A>G (p.Ser905=)
c.2391A>G (p.Ser797=)
gnomAD v4
11g.118491308A>TCA477091670KMT2Ac.4908A>T (p.Ser1636=)
c.585A>T (p.Ser195=)
c.4809A>T (p.Ser1603=)
c.4695A>T (p.Ser1565=)
c.945A>T (p.Ser315=)
c.2292A>T (p.Ser764=)
c.4905A>T (p.Ser1635=)
c.2715A>T (p.Ser905=)
c.2391A>T (p.Ser797=)
11g.118491309G>ACA382834517KMT2Ac.4909G>A (p.Gly1637Ser)
c.4909G>A (p.Asp1637Asn)
c.586G>A (p.Gly196Ser)
c.4810G>A (p.Asp1604Asn)
c.4810G>A (p.Gly1604Ser)
c.4696G>A (p.Asp1566Asn)
c.946G>A (p.Asp316Asn)
c.2293G>A (p.Gly765Ser)
c.4906G>A (p.Gly1636Ser)
c.2716G>A (p.Gly906Ser)
c.2392G>A (p.Gly798Ser)
11g.118491309G>CCA382834518KMT2Ac.4909G>C (p.Gly1637Arg)
c.4909G>C (p.Asp1637His)
c.586G>C (p.Gly196Arg)
c.4810G>C (p.Asp1604His)
c.4810G>C (p.Gly1604Arg)
c.4696G>C (p.Asp1566His)
c.946G>C (p.Asp316His)
c.2293G>C (p.Gly765Arg)
c.4906G>C (p.Gly1636Arg)
c.2716G>C (p.Gly906Arg)
c.2392G>C (p.Gly798Arg)
11g.118491309G>TCA382834519KMT2Ac.4909G>T (p.Gly1637Cys)
c.4909G>T (p.Asp1637Tyr)
c.586G>T (p.Gly196Cys)
c.4810G>T (p.Asp1604Tyr)
c.4810G>T (p.Gly1604Cys)
c.4696G>T (p.Asp1566Tyr)
c.946G>T (p.Asp316Tyr)
c.2293G>T (p.Gly765Cys)
c.4906G>T (p.Gly1636Cys)
c.2716G>T (p.Gly906Cys)
c.2392G>T (p.Gly798Cys)
11g.118491310G>ACA382834522KMT2Ac.4910G>A (p.Gly1637Asp)
c.4909+1G>A (n.4909+1G>A)
c.587G>A (p.Gly196Asp)
c.4810+1G>A (n.4810+1G>A)
c.4811G>A (p.Gly1604Asp)
c.4696+1G>A (n.4696+1G>A)
c.946+1G>A (n.946+1G>A)
c.2294G>A (p.Gly765Asp)
c.4907G>A (p.Gly1636Asp)
c.2717G>A (p.Gly906Asp)
c.2393G>A (p.Gly798Asp)
dbSNP
11g.118491310G>CCA382834521KMT2Ac.4910G>C (p.Gly1637Ala)
c.4909+1G>C (n.4909+1G>C)
c.587G>C (p.Gly196Ala)
c.4810+1G>C (n.4810+1G>C)
c.4811G>C (p.Gly1604Ala)
c.4696+1G>C (n.4696+1G>C)
c.946+1G>C (n.946+1G>C)
c.2294G>C (p.Gly765Ala)
c.4907G>C (p.Gly1636Ala)
c.2717G>C (p.Gly906Ala)
c.2393G>C (p.Gly798Ala)
11g.118491310G>TCA382834520KMT2Ac.4910G>T (p.Gly1637Val)
c.4909+1G>T (n.4909+1G>T)
c.587G>T (p.Gly196Val)
c.4810+1G>T (n.4810+1G>T)
c.4811G>T (p.Gly1604Val)
c.4696+1G>T (n.4696+1G>T)
c.946+1G>T (n.946+1G>T)
c.2294G>T (p.Gly765Val)
c.4907G>T (p.Gly1636Val)
c.2717G>T (p.Gly906Val)
c.2393G>T (p.Gly798Val)
11g.118491311T>ACA382834523KMT2Ac.4911T>A (p.Gly1637=)
c.4909+2T>A (n.4909+2T>A)
c.588T>A (p.Gly196=)
c.4810+2T>A (n.4810+2T>A)
c.4812T>A (p.Gly1604=)
c.4696+2T>A (n.4696+2T>A)
c.946+2T>A (n.946+2T>A)
c.2295T>A (p.Gly765=)
c.4908T>A (p.Gly1636=)
c.2718T>A (p.Gly906=)
c.2394T>A (p.Gly798=)
11g.118491311T>CCA382834524KMT2Ac.4911T>C (p.Gly1637=)
c.4909+2T>C (n.4909+2T>C)
c.588T>C (p.Gly196=)
c.4810+2T>C (n.4810+2T>C)
c.4812T>C (p.Gly1604=)
c.4696+2T>C (n.4696+2T>C)
c.946+2T>C (n.946+2T>C)
c.2295T>C (p.Gly765=)
c.4908T>C (p.Gly1636=)
c.2718T>C (p.Gly906=)
c.2394T>C (p.Gly798=)
11g.118491311T>GCA382834525KMT2Ac.4911T>G (p.Gly1637=)
c.4909+2T>G (n.4909+2T>G)
c.588T>G (p.Gly196=)
c.4810+2T>G (n.4810+2T>G)
c.4812T>G (p.Gly1604=)
c.4696+2T>G (n.4696+2T>G)
c.946+2T>G (n.946+2T>G)
c.2295T>G (p.Gly765=)
c.4908T>G (p.Gly1636=)
c.2718T>G (p.Gly906=)
c.2394T>G (p.Gly798=)
11g.118491312A>CCA382834526KMT2Ac.4912A>C (p.Thr1638Pro)
c.4909+3A>C (n.4909+3A>C)
c.589A>C (p.Thr197Pro)
c.4810+3A>C (n.4810+3A>C)
c.4813A>C (p.Thr1605Pro)
c.4696+3A>C (n.4696+3A>C)
c.946+3A>C (n.946+3A>C)
c.2296A>C (p.Thr766Pro)
c.4909A>C (p.Thr1637Pro)
c.2719A>C (p.Thr907Pro)
c.2395A>C (p.Thr799Pro)
11g.118491312A>GCA382834527KMT2Ac.4912A>G (p.Thr1638Ala)
c.4909+3A>G (n.4909+3A>G)
c.589A>G (p.Thr197Ala)
c.4810+3A>G (n.4810+3A>G)
c.4813A>G (p.Thr1605Ala)
c.4696+3A>G (n.4696+3A>G)
c.946+3A>G (n.946+3A>G)
c.2296A>G (p.Thr766Ala)
c.4909A>G (p.Thr1637Ala)
c.2719A>G (p.Thr907Ala)
c.2395A>G (p.Thr799Ala)
11g.118491312A>TCA382834528KMT2Ac.4912A>T (p.Thr1638Ser)
c.4909+3A>T (n.4909+3A>T)
c.589A>T (p.Thr197Ser)
c.4810+3A>T (n.4810+3A>T)
c.4813A>T (p.Thr1605Ser)
c.4696+3A>T (n.4696+3A>T)
c.946+3A>T (n.946+3A>T)
c.2296A>T (p.Thr766Ser)
c.4909A>T (p.Thr1637Ser)
c.2719A>T (p.Thr907Ser)
c.2395A>T (p.Thr799Ser)
11g.118491313C>ACA382834529KMT2Ac.4913C>A (p.Thr1638Lys)
c.4909+4C>A (n.4909+4C>A)
c.590C>A (p.Thr197Lys)
c.4810+4C>A (n.4810+4C>A)
c.4814C>A (p.Thr1605Lys)
c.4696+4C>A (n.4696+4C>A)
c.946+4C>A (n.946+4C>A)
c.2297C>A (p.Thr766Lys)
c.4910C>A (p.Thr1637Lys)
c.2720C>A (p.Thr907Lys)
c.2396C>A (p.Thr799Lys)
11g.118491313C>GCA382834530KMT2Ac.4913C>G (p.Thr1638Arg)
c.4909+4C>G (n.4909+4C>G)
c.590C>G (p.Thr197Arg)
c.4810+4C>G (n.4810+4C>G)
c.4814C>G (p.Thr1605Arg)
c.4696+4C>G (n.4696+4C>G)
c.946+4C>G (n.946+4C>G)
c.2297C>G (p.Thr766Arg)
c.4910C>G (p.Thr1637Arg)
c.2720C>G (p.Thr907Arg)
c.2396C>G (p.Thr799Arg)
11g.118491313C>TCA382834531KMT2Ac.4913C>T (p.Thr1638Ile)
c.4909+4C>T (n.4909+4C>T)
c.590C>T (p.Thr197Ile)
c.4810+4C>T (n.4810+4C>T)
c.4814C>T (p.Thr1605Ile)
c.4696+4C>T (n.4696+4C>T)
c.946+4C>T (n.946+4C>T)
c.2297C>T (p.Thr766Ile)
c.4910C>T (p.Thr1637Ile)
c.2720C>T (p.Thr907Ile)
c.2396C>T (p.Thr799Ile)
11g.118491314A>CCA477091674KMT2Ac.4914A>C (p.Thr1638=)
c.4909+5A>C (n.4909+5A>C)
c.591A>C (p.Thr197=)
c.4810+5A>C (n.4810+5A>C)
c.4815A>C (p.Thr1605=)
c.4696+5A>C (n.4696+5A>C)
c.946+5A>C (n.946+5A>C)
c.2298A>C (p.Thr766=)
c.4911A>C (p.Thr1637=)
c.2721A>C (p.Thr907=)
c.2397A>C (p.Thr799=)
11g.118491314A>GCA477091675KMT2Ac.4914A>G (p.Thr1638=)
c.4909+5A>G (n.4909+5A>G)
c.591A>G (p.Thr197=)
c.4810+5A>G (n.4810+5A>G)
c.4815A>G (p.Thr1605=)
c.4696+5A>G (n.4696+5A>G)
c.946+5A>G (n.946+5A>G)
c.2298A>G (p.Thr766=)
c.4911A>G (p.Thr1637=)
c.2721A>G (p.Thr907=)
c.2397A>G (p.Thr799=)
11g.118491314A>TCA477091673KMT2Ac.4914A>T (p.Thr1638=)
c.4909+5A>T (n.4909+5A>T)
c.591A>T (p.Thr197=)
c.4810+5A>T (n.4810+5A>T)
c.4815A>T (p.Thr1605=)
c.4696+5A>T (n.4696+5A>T)
c.946+5A>T (n.946+5A>T)
c.2298A>T (p.Thr766=)
c.4911A>T (p.Thr1637=)
c.2721A>T (p.Thr907=)
c.2397A>T (p.Thr799=)
11g.118491315G>ACA382834532KMT2Ac.4915G>A (p.Glu1639Lys)
c.4909+6G>A (n.4909+6G>A)
c.592G>A (p.Glu198Lys)
c.4810+6G>A (n.4810+6G>A)
c.4816G>A (p.Glu1606Lys)
c.4696+6G>A (n.4696+6G>A)
c.946+6G>A (n.946+6G>A)
c.2299G>A (p.Glu767Lys)
c.4912G>A (p.Glu1638Lys)
c.2722G>A (p.Glu908Lys)
c.2398G>A (p.Glu800Lys)
11g.118491315G>CCA382834533KMT2Ac.4915G>C (p.Glu1639Gln)
c.4909+6G>C (n.4909+6G>C)
c.592G>C (p.Glu198Gln)
c.4810+6G>C (n.4810+6G>C)
c.4816G>C (p.Glu1606Gln)
c.4696+6G>C (n.4696+6G>C)
c.946+6G>C (n.946+6G>C)
c.2299G>C (p.Glu767Gln)
c.4912G>C (p.Glu1638Gln)
c.2722G>C (p.Glu908Gln)
c.2398G>C (p.Glu800Gln)
11g.118491315G>TCA382834534KMT2Ac.4915G>T (p.Glu1639Ter)
c.4909+6G>T (n.4909+6G>T)
c.592G>T (p.Glu198Ter)
c.4810+6G>T (n.4810+6G>T)
c.4816G>T (p.Glu1606Ter)
c.4696+6G>T (n.4696+6G>T)
c.946+6G>T (n.946+6G>T)
c.2299G>T (p.Glu767Ter)
c.4912G>T (p.Glu1638Ter)
c.2722G>T (p.Glu908Ter)
c.2398G>T (p.Glu800Ter)
11g.118491316A>CCA382834536KMT2Ac.4916A>C (p.Glu1639Ala)
c.4909+7A>C (n.4909+7A>C)
c.593A>C (p.Glu198Ala)
c.4810+7A>C (n.4810+7A>C)
c.4817A>C (p.Glu1606Ala)
c.4696+7A>C (n.4696+7A>C)
c.946+7A>C (n.946+7A>C)
c.2300A>C (p.Glu767Ala)
c.4913A>C (p.Glu1638Ala)
c.2723A>C (p.Glu908Ala)
c.2399A>C (p.Glu800Ala)
11g.118491316A>GCA382834537KMT2Ac.4916A>G (p.Glu1639Gly)
c.4909+7A>G (n.4909+7A>G)
c.593A>G (p.Glu198Gly)
c.4810+7A>G (n.4810+7A>G)
c.4817A>G (p.Glu1606Gly)
c.4696+7A>G (n.4696+7A>G)
c.946+7A>G (n.946+7A>G)
c.2300A>G (p.Glu767Gly)
c.4913A>G (p.Glu1638Gly)
c.2723A>G (p.Glu908Gly)
c.2399A>G (p.Glu800Gly)
11g.118491316A>TCA382834535KMT2Ac.4916A>T (p.Glu1639Val)
c.4909+7A>T (n.4909+7A>T)
c.593A>T (p.Glu198Val)
c.4810+7A>T (n.4810+7A>T)
c.4817A>T (p.Glu1606Val)
c.4696+7A>T (n.4696+7A>T)
c.946+7A>T (n.946+7A>T)
c.2300A>T (p.Glu767Val)
c.4913A>T (p.Glu1638Val)
c.2723A>T (p.Glu908Val)
c.2399A>T (p.Glu800Val)
11g.118491316_118491320delCA2573050674KMT2Ac.4916_4918+2del
c.4909+7_4909+11del (n.4909+7_4909+11del)
c.593_595+2del
c.4810+7_4810+11del (n.4810+7_4810+11del)
c.4817_4819+2del
c.4696+7_4696+11del (n.4696+7_4696+11del)
c.946+7_946+11del (n.946+7_946+11del)
c.2300_2302+2del
c.4913_4915+2del
c.2723_2725+2del
c.2399_2401+2del
gnomAD v4
11g.118491317A>CCA382834538KMT2Ac.4917A>C (p.Glu1639Asp)
c.4909+8A>C (n.4909+8A>C)
c.594A>C (p.Glu198Asp)
c.4810+8A>C (n.4810+8A>C)
c.4818A>C (p.Glu1606Asp)
c.4696+8A>C (n.4696+8A>C)
c.946+8A>C (n.946+8A>C)
c.2301A>C (p.Glu767Asp)
c.4914A>C (p.Glu1638Asp)
c.2724A>C (p.Glu908Asp)
c.2400A>C (p.Glu800Asp)
11g.118491317A>GCA477091676KMT2Ac.4917A>G (p.Glu1639=)
c.4909+8A>G (n.4909+8A>G)
c.594A>G (p.Glu198=)
c.4810+8A>G (n.4810+8A>G)
c.4818A>G (p.Glu1606=)
c.4696+8A>G (n.4696+8A>G)
c.946+8A>G (n.946+8A>G)
c.2301A>G (p.Glu767=)
c.4914A>G (p.Glu1638=)
c.2724A>G (p.Glu908=)
c.2400A>G (p.Glu800=)
11g.118491317A>TCA382834539KMT2Ac.4917A>T (p.Glu1639Asp)
c.4909+8A>T (n.4909+8A>T)
c.594A>T (p.Glu198Asp)
c.4810+8A>T (n.4810+8A>T)
c.4818A>T (p.Glu1606Asp)
c.4696+8A>T (n.4696+8A>T)
c.946+8A>T (n.946+8A>T)
c.2301A>T (p.Glu767Asp)
c.4914A>T (p.Glu1638Asp)
c.2724A>T (p.Glu908Asp)
c.2400A>T (p.Glu800Asp)
11g.118491318G>ACA6303944KMT2Ac.4918G>A (p.Asp1640Asn)
c.4909+9G>A (n.4909+9G>A)
c.595G>A (p.Asp199Asn)
c.4810+9G>A (n.4810+9G>A)
c.4819G>A (p.Asp1607Asn)
c.4696+9G>A (n.4696+9G>A)
c.946+9G>A (n.946+9G>A)
c.2302G>A (p.Asp768Asn)
c.4915G>A (p.Asp1639Asn)
c.2725G>A (p.Asp909Asn)
c.2401G>A (p.Asp801Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118491318G>CCA382834540KMT2Ac.4918G>C (p.Asp1640His)
c.4909+9G>C (n.4909+9G>C)
c.595G>C (p.Asp199His)
c.4810+9G>C (n.4810+9G>C)
c.4819G>C (p.Asp1607His)
c.4696+9G>C (n.4696+9G>C)
c.946+9G>C (n.946+9G>C)
c.2302G>C (p.Asp768His)
c.4915G>C (p.Asp1639His)
c.2725G>C (p.Asp909His)
c.2401G>C (p.Asp801His)
11g.118491318G=CA2003519185KMT2Ac.4918G= (p.Asp1640=)
c.4909+9G= (n.4909+9G=)
c.595G= (p.Asp199=)
c.4810+9G= (n.4810+9G=)
c.4819G= (p.Asp1607=)
c.4696+9G= (n.4696+9G=)
c.946+9G= (n.946+9G=)
c.2302G= (p.Asp768=)
c.4915G= (p.Asp1639=)
c.2725G= (p.Asp909=)
c.2401G= (p.Asp801=)
11g.118491318G>TCA382834541KMT2Ac.4918G>T (p.Asp1640Tyr)
c.4909+9G>T (n.4909+9G>T)
c.595G>T (p.Asp199Tyr)
c.4810+9G>T (n.4810+9G>T)
c.4819G>T (p.Asp1607Tyr)
c.4696+9G>T (n.4696+9G>T)
c.946+9G>T (n.946+9G>T)
c.2302G>T (p.Asp768Tyr)
c.4915G>T (p.Asp1639Tyr)
c.2725G>T (p.Asp909Tyr)
c.2401G>T (p.Asp801Tyr)
11g.118491319G>ACA382834542KMT2Ac.4918+1G>A (n.4918+1G>A)
c.4909+10G>A (n.4909+10G>A)
c.595+1G>A (n.595+1G>A)
c.4810+10G>A (n.4810+10G>A)
c.4819+1G>A (n.4819+1G>A)
c.4696+10G>A (n.4696+10G>A)
c.946+10G>A (n.946+10G>A)
c.2302+1G>A (n.2302+1G>A)
c.4915+1G>A (n.4915+1G>A)
c.2725+1G>A (n.2725+1G>A)
c.2401+1G>A (n.2401+1G>A)
11g.118491319G>CCA382834543KMT2Ac.4918+1G>C (n.4918+1G>C)
c.4909+10G>C (n.4909+10G>C)
c.595+1G>C (n.595+1G>C)
c.4810+10G>C (n.4810+10G>C)
c.4819+1G>C (n.4819+1G>C)
c.4696+10G>C (n.4696+10G>C)
c.946+10G>C (n.946+10G>C)
c.2302+1G>C (n.2302+1G>C)
c.4915+1G>C (n.4915+1G>C)
c.2725+1G>C (n.2725+1G>C)
c.2401+1G>C (n.2401+1G>C)
11g.118491319G>TCA382834544KMT2Ac.4918+1G>T (n.4918+1G>T)
c.4909+10G>T (n.4909+10G>T)
c.595+1G>T (n.595+1G>T)
c.4810+10G>T (n.4810+10G>T)
c.4819+1G>T (n.4819+1G>T)
c.4696+10G>T (n.4696+10G>T)
c.946+10G>T (n.946+10G>T)
c.2302+1G>T (n.2302+1G>T)
c.4915+1G>T (n.4915+1G>T)
c.2725+1G>T (n.2725+1G>T)
c.2401+1G>T (n.2401+1G>T)
11g.118491320T>ACA382834545KMT2Ac.4918+2T>A (n.4918+2T>A)
c.4909+11T>A (n.4909+11T>A)
c.595+2T>A (n.595+2T>A)
c.4810+11T>A (n.4810+11T>A)
c.4819+2T>A (n.4819+2T>A)
c.4696+11T>A (n.4696+11T>A)
c.946+11T>A (n.946+11T>A)
c.2302+2T>A (n.2302+2T>A)
c.4915+2T>A (n.4915+2T>A)
c.2725+2T>A (n.2725+2T>A)
c.2401+2T>A (n.2401+2T>A)
dbSNP
11g.118491320T>CCA382834546KMT2Ac.4918+2T>C (n.4918+2T>C)
c.4909+11T>C (n.4909+11T>C)
c.595+2T>C (n.595+2T>C)
c.4810+11T>C (n.4810+11T>C)
c.4819+2T>C (n.4819+2T>C)
c.4696+11T>C (n.4696+11T>C)
c.946+11T>C (n.946+11T>C)
c.2302+2T>C (n.2302+2T>C)
c.4915+2T>C (n.4915+2T>C)
c.2725+2T>C (n.2725+2T>C)
c.2401+2T>C (n.2401+2T>C)
11g.118491320T>GCA382834547KMT2Ac.4918+2T>G (n.4918+2T>G)
c.4909+11T>G (n.4909+11T>G)
c.595+2T>G (n.595+2T>G)
c.4810+11T>G (n.4810+11T>G)
c.4819+2T>G (n.4819+2T>G)
c.4696+11T>G (n.4696+11T>G)
c.946+11T>G (n.946+11T>G)
c.2302+2T>G (n.2302+2T>G)
c.4915+2T>G (n.4915+2T>G)
c.2725+2T>G (n.2725+2T>G)
c.2401+2T>G (n.2401+2T>G)
11g.118491321T>CCA2003519187KMT2Ac.4918+3T>C (n.4918+3T>C)
c.4909+12T>C (n.4909+12T>C)
c.595+3T>C (n.595+3T>C)
c.4810+12T>C (n.4810+12T>C)
c.4819+3T>C (n.4819+3T>C)
c.4696+12T>C (n.4696+12T>C)
c.946+12T>C (n.946+12T>C)
c.2302+3T>C (n.2302+3T>C)
c.4915+3T>C (n.4915+3T>C)
c.2725+3T>C (n.2725+3T>C)
c.2401+3T>C (n.2401+3T>C)
dbSNP
11g.118491321T=CA2003519188KMT2Ac.4918+3T= (n.4918+3T=)
c.4909+12T= (n.4909+12T=)
c.595+3T= (n.595+3T=)
c.4810+12T= (n.4810+12T=)
c.4819+3T= (n.4819+3T=)
c.4696+12T= (n.4696+12T=)
c.946+12T= (n.946+12T=)
c.2302+3T= (n.2302+3T=)
c.4915+3T= (n.4915+3T=)
c.2725+3T= (n.2725+3T=)
c.2401+3T= (n.2401+3T=)
11g.118491322G>ACA672355310KMT2Ac.4918+4G>A (n.4918+4G>A)
c.4909+13G>A (n.4909+13G>A)
c.595+4G>A (n.595+4G>A)
c.4810+13G>A (n.4810+13G>A)
c.4819+4G>A (n.4819+4G>A)
c.4696+13G>A (n.4696+13G>A)
c.946+13G>A (n.946+13G>A)
c.2302+4G>A (n.2302+4G>A)
c.4915+4G>A (n.4915+4G>A)
c.2725+4G>A (n.2725+4G>A)
c.2401+4G>A (n.2401+4G>A)
dbSNP gnomAD v4
11g.118491322G=CA2003519190KMT2Ac.4918+4G= (n.4918+4G=)
c.4909+13G= (n.4909+13G=)
c.595+4G= (n.595+4G=)
c.4810+13G= (n.4810+13G=)
c.4819+4G= (n.4819+4G=)
c.4696+13G= (n.4696+13G=)
c.946+13G= (n.946+13G=)
c.2302+4G= (n.2302+4G=)
c.4915+4G= (n.4915+4G=)
c.2725+4G= (n.2725+4G=)
c.2401+4G= (n.2401+4G=)
11g.118491322G>TCA2574995533KMT2Ac.4918+4G>T (n.4918+4G>T)
c.4909+13G>T (n.4909+13G>T)
c.595+4G>T (n.595+4G>T)
c.4810+13G>T (n.4810+13G>T)
c.4819+4G>T (n.4819+4G>T)
c.4696+13G>T (n.4696+13G>T)
c.946+13G>T (n.946+13G>T)
c.2302+4G>T (n.2302+4G>T)
c.4915+4G>T (n.4915+4G>T)
c.2725+4G>T (n.2725+4G>T)
c.2401+4G>T (n.2401+4G>T)
gnomAD v4
11g.118491323G>ACA2725071963KMT2Ac.4918+5G>A (n.4918+5G>A)
c.4909+14G>A (n.4909+14G>A)
c.595+5G>A (n.595+5G>A)
c.4810+14G>A (n.4810+14G>A)
c.4819+5G>A (n.4819+5G>A)
c.4696+14G>A (n.4696+14G>A)
c.946+14G>A (n.946+14G>A)
c.2302+5G>A (n.2302+5G>A)
c.4915+5G>A (n.4915+5G>A)
c.2725+5G>A (n.2725+5G>A)
c.2401+5G>A (n.2401+5G>A)
dbSNP
11g.118491323G=CA2003519191KMT2Ac.4918+5G= (n.4918+5G=)
c.4909+14G= (n.4909+14G=)
c.595+5G= (n.595+5G=)
c.4810+14G= (n.4810+14G=)
c.4819+5G= (n.4819+5G=)
c.4696+14G= (n.4696+14G=)
c.946+14G= (n.946+14G=)
c.2302+5G= (n.2302+5G=)
c.4915+5G= (n.4915+5G=)
c.2725+5G= (n.2725+5G=)
c.2401+5G= (n.2401+5G=)
11g.118491324A=CA2003519195KMT2Ac.4918+6A= (n.4918+6A=)
c.4909+15A= (n.4909+15A=)
c.595+6A= (n.595+6A=)
c.4810+15A= (n.4810+15A=)
c.4819+6A= (n.4819+6A=)
c.4696+15A= (n.4696+15A=)
c.946+15A= (n.946+15A=)
c.2302+6A= (n.2302+6A=)
c.4915+6A= (n.4915+6A=)
c.2725+6A= (n.2725+6A=)
c.2401+6A= (n.2401+6A=)
11g.118491324A>CCA2003519196KMT2Ac.4918+6A>C (n.4918+6A>C)
c.4909+15A>C (n.4909+15A>C)
c.595+6A>C (n.595+6A>C)
c.4810+15A>C (n.4810+15A>C)
c.4819+6A>C (n.4819+6A>C)
c.4696+15A>C (n.4696+15A>C)
c.946+15A>C (n.946+15A>C)
c.2302+6A>C (n.2302+6A>C)
c.4915+6A>C (n.4915+6A>C)
c.2725+6A>C (n.2725+6A>C)
c.2401+6A>C (n.2401+6A>C)
dbSNP
11g.118491324A>GCA672355312KMT2Ac.4918+6A>G (n.4918+6A>G)
c.4909+15A>G (n.4909+15A>G)
c.595+6A>G (n.595+6A>G)
c.4810+15A>G (n.4810+15A>G)
c.4819+6A>G (n.4819+6A>G)
c.4696+15A>G (n.4696+15A>G)
c.946+15A>G (n.946+15A>G)
c.2302+6A>G (n.2302+6A>G)
c.4915+6A>G (n.4915+6A>G)
c.2725+6A>G (n.2725+6A>G)
c.2401+6A>G (n.2401+6A>G)
dbSNP gnomAD v3 gnomAD v4
11g.118491324_118491325insTCCACA2003519193KMT2Ac.4918+6_4918+7insTCCA (n.4918+6_4918+7insTCCA)
c.4909+15_4909+16insTCCA (n.4909+15_4909+16insTCCA)
c.595+6_595+7insTCCA (n.595+6_595+7insTCCA)
c.4810+15_4810+16insTCCA (n.4810+15_4810+16insTCCA)
c.4819+6_4819+7insTCCA (n.4819+6_4819+7insTCCA)
c.4696+15_4696+16insTCCA (n.4696+15_4696+16insTCCA)
c.946+15_946+16insTCCA (n.946+15_946+16insTCCA)
c.2302+6_2302+7insTCCA (n.2302+6_2302+7insTCCA)
c.4915+6_4915+7insTCCA (n.4915+6_4915+7insTCCA)
c.2725+6_2725+7insTCCA (n.2725+6_2725+7insTCCA)
c.2401+6_2401+7insTCCA (n.2401+6_2401+7insTCCA)
ClinVar dbSNP
11g.118491325G>ACA2574995534KMT2Ac.4918+7G>A (n.4918+7G>A)
c.4909+16G>A (n.4909+16G>A)
c.595+7G>A (n.595+7G>A)
c.4810+16G>A (n.4810+16G>A)
c.4819+7G>A (n.4819+7G>A)
c.4696+16G>A (n.4696+16G>A)
c.946+16G>A (n.946+16G>A)
c.2302+7G>A (n.2302+7G>A)
c.4915+7G>A (n.4915+7G>A)
c.2725+7G>A (n.2725+7G>A)
c.2401+7G>A (n.2401+7G>A)
dbSNP gnomAD v4
11g.118491327C=CA2003519200KMT2Ac.4918+9C= (n.4918+9C=)
c.4909+18C= (n.4909+18C=)
c.595+9C= (n.595+9C=)
c.4810+18C= (n.4810+18C=)
c.4819+9C= (n.4819+9C=)
c.4696+18C= (n.4696+18C=)
c.946+18C= (n.946+18C=)
c.2302+9C= (n.2302+9C=)
c.4915+9C= (n.4915+9C=)
c.2725+9C= (n.2725+9C=)
c.2401+9C= (n.2401+9C=)
11g.118491327C>GCA229531410KMT2Ac.4918+9C>G (n.4918+9C>G)
c.4909+18C>G (n.4909+18C>G)
c.595+9C>G (n.595+9C>G)
c.4810+18C>G (n.4810+18C>G)
c.4819+9C>G (n.4819+9C>G)
c.4696+18C>G (n.4696+18C>G)
c.946+18C>G (n.946+18C>G)
c.2302+9C>G (n.2302+9C>G)
c.4915+9C>G (n.4915+9C>G)
c.2725+9C>G (n.2725+9C>G)
c.2401+9C>G (n.2401+9C>G)
dbSNP
11g.118491327C>TCA2724948743KMT2Ac.4918+9C>T (n.4918+9C>T)
c.4909+18C>T (n.4909+18C>T)
c.595+9C>T (n.595+9C>T)
c.4810+18C>T (n.4810+18C>T)
c.4819+9C>T (n.4819+9C>T)
c.4696+18C>T (n.4696+18C>T)
c.946+18C>T (n.946+18C>T)
c.2302+9C>T (n.2302+9C>T)
c.4915+9C>T (n.4915+9C>T)
c.2725+9C>T (n.2725+9C>T)
c.2401+9C>T (n.2401+9C>T)
dbSNP
11g.118491331_118491332delCA2603229809KMT2Ac.4918+13_4918+14del (n.4918+13_4918+14del)
c.4909+22_4909+23del (n.4909+22_4909+23del)
c.595+13_595+14del (n.595+13_595+14del)
c.4810+22_4810+23del (n.4810+22_4810+23del)
c.4819+13_4819+14del (n.4819+13_4819+14del)
c.4696+22_4696+23del (n.4696+22_4696+23del)
c.946+22_946+23del (n.946+22_946+23del)
c.2302+13_2302+14del (n.2302+13_2302+14del)
c.4915+13_4915+14del (n.4915+13_4915+14del)
c.2725+13_2725+14del (n.2725+13_2725+14del)
c.2401+13_2401+14del (n.2401+13_2401+14del)
gnomAD v3
11g.118491330T>ACA2725072209KMT2Ac.4918+12T>A (n.4918+12T>A)
c.4909+21T>A (n.4909+21T>A)
c.595+12T>A (n.595+12T>A)
c.4810+21T>A (n.4810+21T>A)
c.4819+12T>A (n.4819+12T>A)
c.4696+21T>A (n.4696+21T>A)
c.946+21T>A (n.946+21T>A)
c.2302+12T>A (n.2302+12T>A)
c.4915+12T>A (n.4915+12T>A)
c.2725+12T>A (n.2725+12T>A)
c.2401+12T>A (n.2401+12T>A)
dbSNP
11g.118491332T>GCA942726238KMT2Ac.4918+14T>G (n.4918+14T>G)
c.4909+23T>G (n.4909+23T>G)
c.595+14T>G (n.595+14T>G)
c.4810+23T>G (n.4810+23T>G)
c.4819+14T>G (n.4819+14T>G)
c.4696+23T>G (n.4696+23T>G)
c.946+23T>G (n.946+23T>G)
c.2302+14T>G (n.2302+14T>G)
c.4915+14T>G (n.4915+14T>G)
c.2725+14T>G (n.2725+14T>G)
c.2401+14T>G (n.2401+14T>G)
dbSNP gnomAD v3 gnomAD v4
11g.118491332T=CA2003519204KMT2Ac.4918+14T= (n.4918+14T=)
c.4909+23T= (n.4909+23T=)
c.595+14T= (n.595+14T=)
c.4810+23T= (n.4810+23T=)
c.4819+14T= (n.4819+14T=)
c.4696+23T= (n.4696+23T=)
c.946+23T= (n.946+23T=)
c.2302+14T= (n.2302+14T=)
c.4915+14T= (n.4915+14T=)
c.2725+14T= (n.2725+14T=)
c.2401+14T= (n.2401+14T=)
11g.118491333_118491334insCGGCCCTCGACCA2725072211KMT2Ac.4918+15_4918+16insCGGCCCTCGAC (n.4918+15_4918+16insCGGCCCTCGAC)
c.4909+24_4909+25insCGGCCCTCGAC (n.4909+24_4909+25insCGGCCCTCGAC)
c.595+15_595+16insCGGCCCTCGAC (n.595+15_595+16insCGGCCCTCGAC)
c.4810+24_4810+25insCGGCCCTCGAC (n.4810+24_4810+25insCGGCCCTCGAC)
c.4819+15_4819+16insCGGCCCTCGAC (n.4819+15_4819+16insCGGCCCTCGAC)
c.4696+24_4696+25insCGGCCCTCGAC (n.4696+24_4696+25insCGGCCCTCGAC)
c.946+24_946+25insCGGCCCTCGAC (n.946+24_946+25insCGGCCCTCGAC)
c.2302+15_2302+16insCGGCCCTCGAC (n.2302+15_2302+16insCGGCCCTCGAC)
c.4915+15_4915+16insCGGCCCTCGAC (n.4915+15_4915+16insCGGCCCTCGAC)
c.2725+15_2725+16insCGGCCCTCGAC (n.2725+15_2725+16insCGGCCCTCGAC)
c.2401+15_2401+16insCGGCCCTCGAC (n.2401+15_2401+16insCGGCCCTCGAC)
dbSNP
11g.118491336T>GCA2725072315KMT2Ac.4918+18T>G (n.4918+18T>G)
c.4909+27T>G (n.4909+27T>G)
c.595+18T>G (n.595+18T>G)
c.4810+27T>G (n.4810+27T>G)
c.4819+18T>G (n.4819+18T>G)
c.4696+27T>G (n.4696+27T>G)
c.946+27T>G (n.946+27T>G)
c.2302+18T>G (n.2302+18T>G)
c.4915+18T>G (n.4915+18T>G)
c.2725+18T>G (n.2725+18T>G)
c.2401+18T>G (n.2401+18T>G)
dbSNP
11g.118491337C>GCA2725072317KMT2Ac.4918+19C>G (n.4918+19C>G)
c.4909+28C>G (n.4909+28C>G)
c.595+19C>G (n.595+19C>G)
c.4810+28C>G (n.4810+28C>G)
c.4819+19C>G (n.4819+19C>G)
c.4696+28C>G (n.4696+28C>G)
c.946+28C>G (n.946+28C>G)
c.2302+19C>G (n.2302+19C>G)
c.4915+19C>G (n.4915+19C>G)
c.2725+19C>G (n.2725+19C>G)
c.2401+19C>G (n.2401+19C>G)
dbSNP
11g.118491337C>TCA2616262912KMT2Ac.4918+19C>T (n.4918+19C>T)
c.4909+28C>T (n.4909+28C>T)
c.595+19C>T (n.595+19C>T)
c.4810+28C>T (n.4810+28C>T)
c.4819+19C>T (n.4819+19C>T)
c.4696+28C>T (n.4696+28C>T)
c.946+28C>T (n.946+28C>T)
c.2302+19C>T (n.2302+19C>T)
c.4915+19C>T (n.4915+19C>T)
c.2725+19C>T (n.2725+19C>T)
c.2401+19C>T (n.2401+19C>T)
gnomAD v4
11g.118491337_118491338delCA2616262910KMT2Ac.4918+19_4918+20del (n.4918+19_4918+20del)
c.4909+28_4909+29del (n.4909+28_4909+29del)
c.595+19_595+20del (n.595+19_595+20del)
c.4810+28_4810+29del (n.4810+28_4810+29del)
c.4819+19_4819+20del (n.4819+19_4819+20del)
c.4696+28_4696+29del (n.4696+28_4696+29del)
c.946+28_946+29del (n.946+28_946+29del)
c.2302+19_2302+20del (n.2302+19_2302+20del)
c.4915+19_4915+20del (n.4915+19_4915+20del)
c.2725+19_2725+20del (n.2725+19_2725+20del)
c.2401+19_2401+20del (n.2401+19_2401+20del)
gnomAD v4
11g.118491338A=CA2003519206KMT2Ac.4918+20A= (n.4918+20A=)
c.4909+29A= (n.4909+29A=)
c.595+20A= (n.595+20A=)
c.4810+29A= (n.4810+29A=)
c.4819+20A= (n.4819+20A=)
c.4696+29A= (n.4696+29A=)
c.946+29A= (n.946+29A=)
c.2302+20A= (n.2302+20A=)
c.4915+20A= (n.4915+20A=)
c.2725+20A= (n.2725+20A=)
c.2401+20A= (n.2401+20A=)
11g.118491338A>GCA6303945KMT2Ac.4918+20A>G (n.4918+20A>G)
c.4909+29A>G (n.4909+29A>G)
c.595+20A>G (n.595+20A>G)
c.4810+29A>G (n.4810+29A>G)
c.4819+20A>G (n.4819+20A>G)
c.4696+29A>G (n.4696+29A>G)
c.946+29A>G (n.946+29A>G)
c.2302+20A>G (n.2302+20A>G)
c.4915+20A>G (n.4915+20A>G)
c.2725+20A>G (n.2725+20A>G)
c.2401+20A>G (n.2401+20A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118491339G>TCA2741212934KMT2Ac.4918+21G>T (n.4918+21G>T)
c.4909+30G>T (n.4909+30G>T)
c.595+21G>T (n.595+21G>T)
c.4810+30G>T (n.4810+30G>T)
c.4819+21G>T (n.4819+21G>T)
c.4696+30G>T (n.4696+30G>T)
c.946+30G>T (n.946+30G>T)
c.2302+21G>T (n.2302+21G>T)
c.4915+21G>T (n.4915+21G>T)
c.2725+21G>T (n.2725+21G>T)
c.2401+21G>T (n.2401+21G>T)
11g.118491339_118491340delCA2725072318KMT2Ac.4918+21_4918+22del (n.4918+21_4918+22del)
c.4909+30_4909+31del (n.4909+30_4909+31del)
c.595+21_595+22del (n.595+21_595+22del)
c.4810+30_4810+31del (n.4810+30_4810+31del)
c.4819+21_4819+22del (n.4819+21_4819+22del)
c.4696+30_4696+31del (n.4696+30_4696+31del)
c.946+30_946+31del (n.946+30_946+31del)
c.2302+21_2302+22del (n.2302+21_2302+22del)
c.4915+21_4915+22del (n.4915+21_4915+22del)
c.2725+21_2725+22del (n.2725+21_2725+22del)
c.2401+21_2401+22del (n.2401+21_2401+22del)
dbSNP
11g.118491340T>GCA2003519208KMT2Ac.4918+22T>G (n.4918+22T>G)
c.4909+31T>G (n.4909+31T>G)
c.595+22T>G (n.595+22T>G)
c.4810+31T>G (n.4810+31T>G)
c.4819+22T>G (n.4819+22T>G)
c.4696+31T>G (n.4696+31T>G)
c.946+31T>G (n.946+31T>G)
c.2302+22T>G (n.2302+22T>G)
c.4915+22T>G (n.4915+22T>G)
c.2725+22T>G (n.2725+22T>G)
c.2401+22T>G (n.2401+22T>G)
dbSNP gnomAD v4
11g.118491340T=CA2003519207KMT2Ac.4918+22T= (n.4918+22T=)
c.4909+31T= (n.4909+31T=)
c.595+22T= (n.595+22T=)
c.4810+31T= (n.4810+31T=)
c.4819+22T= (n.4819+22T=)
c.4696+31T= (n.4696+31T=)
c.946+31T= (n.946+31T=)
c.2302+22T= (n.2302+22T=)
c.4915+22T= (n.4915+22T=)
c.2725+22T= (n.2725+22T=)
c.2401+22T= (n.2401+22T=)
11g.118491341_118491344delinsTTTCCA2003519210KMT2Ac.4918+23_4918+26delinsTTTC (n.4918+23_4918+26delinsTTTC)
c.4909+32_4909+35delinsTTTC (n.4909+32_4909+35delinsTTTC)
c.595+23_595+26delinsTTTC (n.595+23_595+26delinsTTTC)
c.4810+32_4810+35delinsTTTC (n.4810+32_4810+35delinsTTTC)
c.4819+23_4819+26delinsTTTC (n.4819+23_4819+26delinsTTTC)
c.4696+32_4696+35delinsTTTC (n.4696+32_4696+35delinsTTTC)
c.946+32_946+35delinsTTTC (n.946+32_946+35delinsTTTC)
c.2302+23_2302+26delinsTTTC (n.2302+23_2302+26delinsTTTC)
c.4915+23_4915+26delinsTTTC (n.4915+23_4915+26delinsTTTC)
c.2725+23_2725+26delinsTTTC (n.2725+23_2725+26delinsTTTC)
c.2401+23_2401+26delinsTTTC (n.2401+23_2401+26delinsTTTC)
11g.118491342T>ACA2003519213KMT2Ac.4918+24T>A (n.4918+24T>A)
c.4909+33T>A (n.4909+33T>A)
c.595+24T>A (n.595+24T>A)
c.4810+33T>A (n.4810+33T>A)
c.4819+24T>A (n.4819+24T>A)
c.4696+33T>A (n.4696+33T>A)
c.946+33T>A (n.946+33T>A)
c.2302+24T>A (n.2302+24T>A)
c.4915+24T>A (n.4915+24T>A)
c.2725+24T>A (n.2725+24T>A)
c.2401+24T>A (n.2401+24T>A)
dbSNP
11g.118491342T=CA2003519211KMT2Ac.4918+24T= (n.4918+24T=)
c.4909+33T= (n.4909+33T=)
c.595+24T= (n.595+24T=)
c.4810+33T= (n.4810+33T=)
c.4819+24T= (n.4819+24T=)
c.4696+33T= (n.4696+33T=)
c.946+33T= (n.946+33T=)
c.2302+24T= (n.2302+24T=)
c.4915+24T= (n.4915+24T=)
c.2725+24T= (n.2725+24T=)
c.2401+24T= (n.2401+24T=)
11g.118491347_118491349delCA602140731KMT2Ac.4918+29_4918+31del (n.4918+29_4918+31del)
c.4909+38_4909+40del (n.4909+38_4909+40del)
c.595+29_595+31del (n.595+29_595+31del)
c.4810+38_4810+40del (n.4810+38_4810+40del)
c.4819+29_4819+31del (n.4819+29_4819+31del)
c.4696+38_4696+40del (n.4696+38_4696+40del)
c.946+38_946+40del (n.946+38_946+40del)
c.2302+29_2302+31del (n.2302+29_2302+31del)
c.4915+29_4915+31del (n.4915+29_4915+31del)
c.2725+29_2725+31del (n.2725+29_2725+31del)
c.2401+29_2401+31del (n.2401+29_2401+31del)
dbSNP gnomAD v2 gnomAD v4
11g.118491343_118491344insACCA2725072320KMT2Ac.4918+25_4918+26insAC (n.4918+25_4918+26insAC)
c.4909+34_4909+35insAC (n.4909+34_4909+35insAC)
c.595+25_595+26insAC (n.595+25_595+26insAC)
c.4810+34_4810+35insAC (n.4810+34_4810+35insAC)
c.4819+25_4819+26insAC (n.4819+25_4819+26insAC)
c.4696+34_4696+35insAC (n.4696+34_4696+35insAC)
c.946+34_946+35insAC (n.946+34_946+35insAC)
c.2302+25_2302+26insAC (n.2302+25_2302+26insAC)
c.4915+25_4915+26insAC (n.4915+25_4915+26insAC)
c.2725+25_2725+26insAC (n.2725+25_2725+26insAC)
c.2401+25_2401+26insAC (n.2401+25_2401+26insAC)
dbSNP
11g.118491345T>CCA477091681KMT2Ac.4918+27T>C (n.4918+27T>C)
c.4909+36T>C (n.4909+36T>C)
c.595+27T>C (n.595+27T>C)
c.4810+36T>C (n.4810+36T>C)
c.4819+27T>C (n.4819+27T>C)
c.4696+36T>C (n.4696+36T>C)
c.946+36T>C (n.946+36T>C)
c.2302+27T>C (n.2302+27T>C)
c.4915+27T>C (n.4915+27T>C)
c.2725+27T>C (n.2725+27T>C)
c.2401+27T>C (n.2401+27T>C)
dbSNP
11g.118491345T=CA2003519218KMT2Ac.4918+27T= (n.4918+27T=)
c.4909+36T= (n.4909+36T=)
c.595+27T= (n.595+27T=)
c.4810+36T= (n.4810+36T=)
c.4819+27T= (n.4819+27T=)
c.4696+36T= (n.4696+36T=)
c.946+36T= (n.946+36T=)
c.2302+27T= (n.2302+27T=)
c.4915+27T= (n.4915+27T=)
c.2725+27T= (n.2725+27T=)
c.2401+27T= (n.2401+27T=)
11g.118491345_118491346delCA2555656786KMT2Ac.4918+27_4918+28del (n.4918+27_4918+28del)
c.4909+36_4909+37del (n.4909+36_4909+37del)
c.595+27_595+28del (n.595+27_595+28del)
c.4810+36_4810+37del (n.4810+36_4810+37del)
c.4819+27_4819+28del (n.4819+27_4819+28del)
c.4696+36_4696+37del (n.4696+36_4696+37del)
c.946+36_946+37del (n.946+36_946+37del)
c.2302+27_2302+28del (n.2302+27_2302+28del)
c.4915+27_4915+28del (n.4915+27_4915+28del)
c.2725+27_2725+28del (n.2725+27_2725+28del)
c.2401+27_2401+28del (n.2401+27_2401+28del)
11g.118491347C>ACA2503169661KMT2Ac.4918+29C>A (n.4918+29C>A)
c.4909+38C>A (n.4909+38C>A)
c.595+29C>A (n.595+29C>A)
c.4810+38C>A (n.4810+38C>A)
c.4819+29C>A (n.4819+29C>A)
c.4696+38C>A (n.4696+38C>A)
c.946+38C>A (n.946+38C>A)
c.2302+29C>A (n.2302+29C>A)
c.4915+29C>A (n.4915+29C>A)
c.2725+29C>A (n.2725+29C>A)
c.2401+29C>A (n.2401+29C>A)
11g.118491347C>TCA2616262922KMT2Ac.4918+29C>T (n.4918+29C>T)
c.4909+38C>T (n.4909+38C>T)
c.595+29C>T (n.595+29C>T)
c.4810+38C>T (n.4810+38C>T)
c.4819+29C>T (n.4819+29C>T)
c.4696+38C>T (n.4696+38C>T)
c.946+38C>T (n.946+38C>T)
c.2302+29C>T (n.2302+29C>T)
c.4915+29C>T (n.4915+29C>T)
c.2725+29C>T (n.2725+29C>T)
c.2401+29C>T (n.2401+29C>T)
gnomAD v4
11g.118491348T>CCA2616262924KMT2Ac.4918+30T>C (n.4918+30T>C)
c.4909+39T>C (n.4909+39T>C)
c.595+30T>C (n.595+30T>C)
c.4810+39T>C (n.4810+39T>C)
c.4819+30T>C (n.4819+30T>C)
c.4696+39T>C (n.4696+39T>C)
c.946+39T>C (n.946+39T>C)
c.2302+30T>C (n.2302+30T>C)
c.4915+30T>C (n.4915+30T>C)
c.2725+30T>C (n.2725+30T>C)
c.2401+30T>C (n.2401+30T>C)
gnomAD v4
11g.118491350T>GCA2616262925KMT2Ac.4918+32T>G (n.4918+32T>G)
c.4909+41T>G (n.4909+41T>G)
c.595+32T>G (n.595+32T>G)
c.4810+41T>G (n.4810+41T>G)
c.4819+32T>G (n.4819+32T>G)
c.4696+41T>G (n.4696+41T>G)
c.946+41T>G (n.946+41T>G)
c.2302+32T>G (n.2302+32T>G)
c.4915+32T>G (n.4915+32T>G)
c.2725+32T>G (n.2725+32T>G)
c.2401+32T>G (n.2401+32T>G)
gnomAD v4
11g.118491351delCA2574995535KMT2Ac.4918+33del (n.4918+33del)
c.4909+42del (n.4909+42del)
c.595+33del (n.595+33del)
c.4810+42del (n.4810+42del)
c.4819+33del (n.4819+33del)
c.4696+42del (n.4696+42del)
c.946+42del (n.946+42del)
c.2302+33del (n.2302+33del)
c.4915+33del (n.4915+33del)
c.2725+33del (n.2725+33del)
c.2401+33del (n.2401+33del)
11g.118491351C>ACA2570914635KMT2Ac.4918+33C>A (n.4918+33C>A)
c.4909+42C>A (n.4909+42C>A)
c.595+33C>A (n.595+33C>A)
c.4810+42C>A (n.4810+42C>A)
c.4819+33C>A (n.4819+33C>A)
c.4696+42C>A (n.4696+42C>A)
c.946+42C>A (n.946+42C>A)
c.2302+33C>A (n.2302+33C>A)
c.4915+33C>A (n.4915+33C>A)
c.2725+33C>A (n.2725+33C>A)
c.2401+33C>A (n.2401+33C>A)
11g.118491353_118491354insAACA2521246514KMT2Ac.4918+35_4918+36insAA (n.4918+35_4918+36insAA)
c.4909+44_4909+45insAA (n.4909+44_4909+45insAA)
c.595+35_595+36insAA (n.595+35_595+36insAA)
c.4810+44_4810+45insAA (n.4810+44_4810+45insAA)
c.4819+35_4819+36insAA (n.4819+35_4819+36insAA)
c.4696+44_4696+45insAA (n.4696+44_4696+45insAA)
c.946+44_946+45insAA (n.946+44_946+45insAA)
c.2302+35_2302+36insAA (n.2302+35_2302+36insAA)
c.4915+35_4915+36insAA (n.4915+35_4915+36insAA)
c.2725+35_2725+36insAA (n.2725+35_2725+36insAA)
c.2401+35_2401+36insAA (n.2401+35_2401+36insAA)
11g.118491355G>ACA2003519222KMT2Ac.4918+37G>A (n.4918+37G>A)
c.4909+46G>A (n.4909+46G>A)
c.595+37G>A (n.595+37G>A)
c.4810+46G>A (n.4810+46G>A)
c.4819+37G>A (n.4819+37G>A)
c.4696+46G>A (n.4696+46G>A)
c.946+46G>A (n.946+46G>A)
c.2302+37G>A (n.2302+37G>A)
c.4915+37G>A (n.4915+37G>A)
c.2725+37G>A (n.2725+37G>A)
c.2401+37G>A (n.2401+37G>A)
dbSNP gnomAD v4
11g.118491355G=CA2003519221KMT2Ac.4918+37G= (n.4918+37G=)
c.4909+46G= (n.4909+46G=)
c.595+37G= (n.595+37G=)
c.4810+46G= (n.4810+46G=)
c.4819+37G= (n.4819+37G=)
c.4696+46G= (n.4696+46G=)
c.946+46G= (n.946+46G=)
c.2302+37G= (n.2302+37G=)
c.4915+37G= (n.4915+37G=)
c.2725+37G= (n.2725+37G=)
c.2401+37G= (n.2401+37G=)
11g.118491357A>GCA2616262928KMT2Ac.4918+39A>G (n.4918+39A>G)
c.4909+48A>G (n.4909+48A>G)
c.595+39A>G (n.595+39A>G)
c.4810+48A>G (n.4810+48A>G)
c.4819+39A>G (n.4819+39A>G)
c.4696+48A>G (n.4696+48A>G)
c.946+48A>G (n.946+48A>G)
c.2302+39A>G (n.2302+39A>G)
c.4915+39A>G (n.4915+39A>G)
c.2725+39A>G (n.2725+39A>G)
c.2401+39A>G (n.2401+39A>G)
gnomAD v4
11g.118491359T>CCA2003519224KMT2Ac.4918+41T>C (n.4918+41T>C)
c.4909+50T>C (n.4909+50T>C)
c.595+41T>C (n.595+41T>C)
c.4810+50T>C (n.4810+50T>C)
c.4819+41T>C (n.4819+41T>C)
c.4696+50T>C (n.4696+50T>C)
c.946+50T>C (n.946+50T>C)
c.2302+41T>C (n.2302+41T>C)
c.4915+41T>C (n.4915+41T>C)
c.2725+41T>C (n.2725+41T>C)
c.2401+41T>C (n.2401+41T>C)
dbSNP
11g.118491359T=CA2003519226KMT2Ac.4918+41T= (n.4918+41T=)
c.4909+50T= (n.4909+50T=)
c.595+41T= (n.595+41T=)
c.4810+50T= (n.4810+50T=)
c.4819+41T= (n.4819+41T=)
c.4696+50T= (n.4696+50T=)
c.946+50T= (n.946+50T=)
c.2302+41T= (n.2302+41T=)
c.4915+41T= (n.4915+41T=)
c.2725+41T= (n.2725+41T=)
c.2401+41T= (n.2401+41T=)
11g.118491360A=CA2003519228KMT2Ac.4918+42A= (n.4918+42A=)
c.4909+51A= (n.4909+51A=)
c.595+42A= (n.595+42A=)
c.4810+51A= (n.4810+51A=)
c.4819+42A= (n.4819+42A=)
c.4696+51A= (n.4696+51A=)
c.946+51A= (n.946+51A=)
c.2302+42A= (n.2302+42A=)
c.4915+42A= (n.4915+42A=)
c.2725+42A= (n.2725+42A=)
c.2401+42A= (n.2401+42A=)
11g.118491360A>GCA6303946KMT2Ac.4918+42A>G (n.4918+42A>G)
c.4909+51A>G (n.4909+51A>G)
c.595+42A>G (n.595+42A>G)
c.4810+51A>G (n.4810+51A>G)
c.4819+42A>G (n.4819+42A>G)
c.4696+51A>G (n.4696+51A>G)
c.946+51A>G (n.946+51A>G)
c.2302+42A>G (n.2302+42A>G)
c.4915+42A>G (n.4915+42A>G)
c.2725+42A>G (n.2725+42A>G)
c.2401+42A>G (n.2401+42A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118491361C>ACA2616262930KMT2Ac.4918+43C>A (n.4918+43C>A)
c.4909+52C>A (n.4909+52C>A)
c.595+43C>A (n.595+43C>A)
c.4810+52C>A (n.4810+52C>A)
c.4819+43C>A (n.4819+43C>A)
c.4696+52C>A (n.4696+52C>A)
c.946+52C>A (n.946+52C>A)
c.2302+43C>A (n.2302+43C>A)
c.4915+43C>A (n.4915+43C>A)
c.2725+43C>A (n.2725+43C>A)
c.2401+43C>A (n.2401+43C>A)
dbSNP gnomAD v4
11g.118491361C=CA2003519230KMT2Ac.4918+43C= (n.4918+43C=)
c.4909+52C= (n.4909+52C=)
c.595+43C= (n.595+43C=)
c.4810+52C= (n.4810+52C=)
c.4819+43C= (n.4819+43C=)
c.4696+52C= (n.4696+52C=)
c.946+52C= (n.946+52C=)
c.2302+43C= (n.2302+43C=)
c.4915+43C= (n.4915+43C=)
c.2725+43C= (n.2725+43C=)
c.2401+43C= (n.2401+43C=)
11g.118491362delCA2574995536KMT2Ac.4918+44del (n.4918+44del)
c.4909+53del (n.4909+53del)
c.595+44del (n.595+44del)
c.4810+53del (n.4810+53del)
c.4819+44del (n.4819+44del)
c.4696+53del (n.4696+53del)
c.946+53del (n.946+53del)
c.2302+44del (n.2302+44del)
c.4915+44del (n.4915+44del)
c.2725+44del (n.2725+44del)
c.2401+44del (n.2401+44del)
11g.118491362_118491363insTTCTAGGTCA602140732KMT2Ac.4918+44_4918+45insTTCTAGGT (n.4918+44_4918+45insTTCTAGGT)
c.4909+53_4909+54insTTCTAGGT (n.4909+53_4909+54insTTCTAGGT)
c.595+44_595+45insTTCTAGGT (n.595+44_595+45insTTCTAGGT)
c.4810+53_4810+54insTTCTAGGT (n.4810+53_4810+54insTTCTAGGT)
c.4819+44_4819+45insTTCTAGGT (n.4819+44_4819+45insTTCTAGGT)
c.4696+53_4696+54insTTCTAGGT (n.4696+53_4696+54insTTCTAGGT)
c.946+53_946+54insTTCTAGGT (n.946+53_946+54insTTCTAGGT)
c.2302+44_2302+45insTTCTAGGT (n.2302+44_2302+45insTTCTAGGT)
c.4915+44_4915+45insTTCTAGGT (n.4915+44_4915+45insTTCTAGGT)
c.2725+44_2725+45insTTCTAGGT (n.2725+44_2725+45insTTCTAGGT)
c.2401+44_2401+45insTTCTAGGT (n.2401+44_2401+45insTTCTAGGT)
dbSNP gnomAD v2
11g.118491364C=CA2003519233KMT2Ac.4918+46C= (n.4918+46C=)
c.4909+55C= (n.4909+55C=)
c.595+46C= (n.595+46C=)
c.4810+55C= (n.4810+55C=)
c.4819+46C= (n.4819+46C=)
c.4696+55C= (n.4696+55C=)
c.946+55C= (n.946+55C=)
c.2302+46C= (n.2302+46C=)
c.4915+46C= (n.4915+46C=)
c.2725+46C= (n.2725+46C=)
c.2401+46C= (n.2401+46C=)
11g.118491364C>GCA2603229810KMT2Ac.4918+46C>G (n.4918+46C>G)
c.4909+55C>G (n.4909+55C>G)
c.595+46C>G (n.595+46C>G)
c.4810+55C>G (n.4810+55C>G)
c.4819+46C>G (n.4819+46C>G)
c.4696+55C>G (n.4696+55C>G)
c.946+55C>G (n.946+55C>G)
c.2302+46C>G (n.2302+46C>G)
c.4915+46C>G (n.4915+46C>G)
c.2725+46C>G (n.2725+46C>G)
c.2401+46C>G (n.2401+46C>G)
gnomAD v3 gnomAD v4
11g.118491364C>TCA6303947KMT2Ac.4918+46C>T (n.4918+46C>T)
c.4909+55C>T (n.4909+55C>T)
c.595+46C>T (n.595+46C>T)
c.4810+55C>T (n.4810+55C>T)
c.4819+46C>T (n.4819+46C>T)
c.4696+55C>T (n.4696+55C>T)
c.946+55C>T (n.946+55C>T)
c.2302+46C>T (n.2302+46C>T)
c.4915+46C>T (n.4915+46C>T)
c.2725+46C>T (n.2725+46C>T)
c.2401+46C>T (n.2401+46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched