Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49047988G>ACA384649184KMT2Dc.4213C>T (p.His1405Tyr)
c.193C>T (p.His65Tyr)
c.4210C>T (p.His1404Tyr)
n.6533C>T
n.5522C>T
 dbSNP COSMIC COSMIC
12g.49047988G>CCA384649191KMT2Dc.4213C>G (p.His1405Asp)
c.193C>G (p.His65Asp)
c.4210C>G (p.His1404Asp)
n.6533C>G
n.5522C>G
 dbSNP
12g.49047988G>TCA384649197KMT2Dc.4213C>A (p.His1405Asn)
c.193C>A (p.His65Asn)
c.4210C>A (p.His1404Asn)
n.6533C>A
n.5522C>A
 dbSNP
12g.49047989A>CCA384649203KMT2Dc.4212T>G (p.Tyr1404Ter)
c.192T>G (p.Tyr64Ter)
c.4209T>G (p.Tyr1403Ter)
n.6532T>G
n.5521T>G
 dbSNP
12g.49047989A>GCA479514386KMT2Dc.4212T>C (p.Tyr1404=)
c.192T>C (p.Tyr64=)
c.4209T>C (p.Tyr1403=)
n.6532T>C
n.5521T>C
12g.49047989A>TCA384649210KMT2Dc.4212T>A (p.Tyr1404Ter)
c.192T>A (p.Tyr64Ter)
c.4209T>A (p.Tyr1403Ter)
n.6532T>A
n.5521T>A
 COSMIC
12g.49047990T>ACA384649216KMT2Dc.4211A>T (p.Tyr1404Phe)
c.191A>T (p.Tyr64Phe)
c.4208A>T (p.Tyr1403Phe)
n.6531A>T
n.5520A>T
12g.49047990T>CCA384649217KMT2Dc.4211A>G (p.Tyr1404Cys)
c.191A>G (p.Tyr64Cys)
c.4208A>G (p.Tyr1403Cys)
n.6531A>G
n.5520A>G
 ClinVar gnomAD v4
12g.49047990T>GCA384649218KMT2Dc.4211A>C (p.Tyr1404Ser)
c.191A>C (p.Tyr64Ser)
c.4208A>C (p.Tyr1403Ser)
n.6531A>C
n.5520A>C
12g.49047991A>CCA384649220KMT2Dc.4210T>G (p.Tyr1404Asp)
c.190T>G (p.Tyr64Asp)
c.4207T>G (p.Tyr1403Asp)
n.6530T>G
n.5519T>G
12g.49047991A>GCA384649222KMT2Dc.4210T>C (p.Tyr1404His)
c.190T>C (p.Tyr64His)
c.4207T>C (p.Tyr1403His)
n.6530T>C
n.5519T>C
 dbSNP
12g.49047991A>TCA384649225KMT2Dc.4210T>A (p.Tyr1404Asn)
c.190T>A (p.Tyr64Asn)
c.4207T>A (p.Tyr1403Asn)
n.6530T>A
n.5519T>A
 dbSNP
12g.49047998_49048006delCA2695216495KMT2Dc.4202_4210del (p.Ser1401_Cys1403del)
c.182_190del (p.Ser61_Cys63del)
c.4199_4207del (p.Ser1400_Cys1402del)
n.6522_6530del
n.5511_5519del
12g.49047992G>ACA479514387KMT2Dc.4209C>T (p.Cys1403=)
c.189C>T (p.Cys63=)
c.4206C>T (p.Cys1402=)
n.6529C>T
n.5518C>T
 dbSNP
12g.49047992G>CCA384649241KMT2Dc.4209C>G (p.Cys1403Trp)
c.189C>G (p.Cys63Trp)
c.4206C>G (p.Cys1402Trp)
n.6529C>G
n.5518C>G
 dbSNP
12g.49047992G=CA2034958170KMT2Dc.4209C= (p.Cys1403=)
c.189C= (p.Cys63=)
c.4206C= (p.Cys1402=)
n.6529C=
n.5518C=
12g.49047992G>TCA384649236KMT2Dc.4209C>A (p.Cys1403Ter)
c.189C>A (p.Cys63Ter)
c.4206C>A (p.Cys1402Ter)
n.6529C>A
n.5518C>A
 ClinVar dbSNP
12g.49047993C>ACA384649245KMT2Dc.4208G>T (p.Cys1403Phe)
c.188G>T (p.Cys63Phe)
c.4205G>T (p.Cys1402Phe)
n.6528G>T
n.5517G>T
12g.49047993C>GCA384649257KMT2Dc.4208G>C (p.Cys1403Ser)
c.188G>C (p.Cys63Ser)
c.4205G>C (p.Cys1402Ser)
n.6528G>C
n.5517G>C
12g.49047993C>TCA384649263KMT2Dc.4208G>A (p.Cys1403Tyr)
c.188G>A (p.Cys63Tyr)
c.4205G>A (p.Cys1402Tyr)
n.6528G>A
n.5517G>A
12g.49047994A>CCA384649266KMT2Dc.4207T>G (p.Cys1403Gly)
c.187T>G (p.Cys63Gly)
c.4204T>G (p.Cys1402Gly)
n.6527T>G
n.5516T>G
 dbSNP
12g.49047994A>GCA384649270KMT2Dc.4207T>C (p.Cys1403Arg)
c.187T>C (p.Cys63Arg)
c.4204T>C (p.Cys1402Arg)
n.6527T>C
n.5516T>C
12g.49047994A>TCA384649272KMT2Dc.4207T>A (p.Cys1403Ser)
c.187T>A (p.Cys63Ser)
c.4204T>A (p.Cys1402Ser)
n.6527T>A
n.5516T>A
12g.49047995C>ACA384649274KMT2Dc.4206G>T (p.Gln1402His)
c.186G>T (p.Gln62His)
c.4203G>T (p.Gln1401His)
n.6526G>T
n.5515G>T
12g.49047995C>GCA384649273KMT2Dc.4206G>C (p.Gln1402His)
c.186G>C (p.Gln62His)
c.4203G>C (p.Gln1401His)
n.6526G>C
n.5515G>C
 dbSNP
12g.49047995C>TCA479514388KMT2Dc.4206G>A (p.Gln1402=)
c.186G>A (p.Gln62=)
c.4203G>A (p.Gln1401=)
n.6526G>A
n.5515G>A
12g.49047995dupCA2838393052KMT2Dc.4206dup (p.Cys1403ValfsTer29)
c.186dup (p.Cys63ValfsTer29)
c.4203dup (p.Cys1402ValfsTer29)
n.6526dup
n.5515dup
12g.49047996T>ACA384649276KMT2Dc.4205A>T (p.Gln1402Leu)
c.185A>T (p.Gln62Leu)
c.4202A>T (p.Gln1401Leu)
n.6525A>T
n.5514A>T
 dbSNP
12g.49047996T>CCA384649278KMT2Dc.4205A>G (p.Gln1402Arg)
c.185A>G (p.Gln62Arg)
c.4202A>G (p.Gln1401Arg)
n.6525A>G
n.5514A>G
12g.49047996T>GCA384649280KMT2Dc.4205A>C (p.Gln1402Pro)
c.185A>C (p.Gln62Pro)
c.4202A>C (p.Gln1401Pro)
n.6525A>C
n.5514A>C
12g.49047997G>ACA384649283KMT2Dc.4204C>T (p.Gln1402Ter)
c.184C>T (p.Gln62Ter)
c.4201C>T (p.Gln1401Ter)
n.6524C>T
n.5513C>T
 ClinVar dbSNP COSMIC COSMIC
12g.49047997G>CCA384649288KMT2Dc.4204C>G (p.Gln1402Glu)
c.184C>G (p.Gln62Glu)
c.4201C>G (p.Gln1401Glu)
n.6524C>G
n.5513C>G
 dbSNP
12g.49047997G=CA2034958181KMT2Dc.4204C= (p.Gln1402=)
c.184C= (p.Gln62=)
c.4201C= (p.Gln1401=)
n.6524C=
n.5513C=
12g.49047997G>TCA384649299KMT2Dc.4204C>A (p.Gln1402Lys)
c.184C>A (p.Gln62Lys)
c.4201C>A (p.Gln1401Lys)
n.6524C>A
n.5513C>A
 dbSNP
12g.49047998A>CCA479514389KMT2Dc.4203T>G (p.Ser1401=)
c.183T>G (p.Ser61=)
c.4200T>G (p.Ser1400=)
n.6523T>G
n.5512T>G
12g.49047998A>GCA479514391KMT2Dc.4203T>C (p.Ser1401=)
c.183T>C (p.Ser61=)
c.4200T>C (p.Ser1400=)
n.6523T>C
n.5512T>C
12g.49047998A>TCA479514390KMT2Dc.4203T>A (p.Ser1401=)
c.183T>A (p.Ser61=)
c.4200T>A (p.Ser1400=)
n.6523T>A
n.5512T>A
 dbSNP
12g.49047999G>ACA384649304KMT2Dc.4202C>T (p.Ser1401Phe)
c.182C>T (p.Ser61Phe)
c.4199C>T (p.Ser1400Phe)
n.6522C>T
n.5511C>T
 dbSNP
12g.49047999G>CCA384649306KMT2Dc.4202C>G (p.Ser1401Cys)
c.182C>G (p.Ser61Cys)
c.4199C>G (p.Ser1400Cys)
n.6522C>G
n.5511C>G
 ClinVar dbSNP gnomAD v4
12g.49047999G=CA2034958189KMT2Dc.4202C= (p.Ser1401=)
c.182C= (p.Ser61=)
c.4199C= (p.Ser1400=)
n.6522C=
n.5511C=
12g.49047999G>TCA384649305KMT2Dc.4202C>A (p.Ser1401Tyr)
c.182C>A (p.Ser61Tyr)
c.4199C>A (p.Ser1400Tyr)
n.6522C>A
n.5511C>A
 dbSNP
12g.49048000A>CCA384649307KMT2Dc.4201T>G (p.Ser1401Ala)
c.181T>G (p.Ser61Ala)
c.4198T>G (p.Ser1400Ala)
n.6521T>G
n.5510T>G
12g.49048000A>GCA384649308KMT2Dc.4201T>C (p.Ser1401Pro)
c.181T>C (p.Ser61Pro)
c.4198T>C (p.Ser1400Pro)
n.6521T>C
n.5510T>C
 dbSNP
12g.49048000A>TCA384649309KMT2Dc.4201T>A (p.Ser1401Thr)
c.181T>A (p.Ser61Thr)
c.4198T>A (p.Ser1400Thr)
n.6521T>A
n.5510T>A
12g.49048001G>ACA479514392KMT2Dc.4200C>T (p.Cys1400=)
c.180C>T (p.Cys60=)
c.4197C>T (p.Cys1399=)
n.6520C>T
n.5509C>T
 dbSNP
12g.49048001G>CCA384649310KMT2Dc.4200C>G (p.Cys1400Trp)
c.180C>G (p.Cys60Trp)
c.4197C>G (p.Cys1399Trp)
n.6520C>G
n.5509C>G
 dbSNP
12g.49048001G>TCA384649311KMT2Dc.4200C>A (p.Cys1400Ter)
c.180C>A (p.Cys60Ter)
c.4197C>A (p.Cys1399Ter)
n.6520C>A
n.5509C>A
12g.49048002C>ACA384649318KMT2Dc.4199G>T (p.Cys1400Phe)
c.179G>T (p.Cys60Phe)
c.4196G>T (p.Cys1399Phe)
n.6519G>T
n.5508G>T
12g.49048002C>GCA384649319KMT2Dc.4199G>C (p.Cys1400Ser)
c.179G>C (p.Cys60Ser)
c.4196G>C (p.Cys1399Ser)
n.6519G>C
n.5508G>C
 dbSNP
12g.49048002C>TCA384649320KMT2Dc.4199G>A (p.Cys1400Tyr)
c.179G>A (p.Cys60Tyr)
c.4196G>A (p.Cys1399Tyr)
n.6519G>A
n.5508G>A
 dbSNP
12g.49048003A>CCA384649322KMT2Dc.4198T>G (p.Cys1400Gly)
c.178T>G (p.Cys60Gly)
c.4195T>G (p.Cys1399Gly)
n.6518T>G
n.5507T>G
 dbSNP
12g.49048003A>GCA384649325KMT2Dc.4198T>C (p.Cys1400Arg)
c.178T>C (p.Cys60Arg)
c.4195T>C (p.Cys1399Arg)
n.6518T>C
n.5507T>C
 ClinVar COSMIC COSMIC
12g.49048003A>TCA384649332KMT2Dc.4198T>A (p.Cys1400Ser)
c.178T>A (p.Cys60Ser)
c.4195T>A (p.Cys1399Ser)
n.6518T>A
n.5507T>A
 dbSNP
12g.49048004C>ACA384649346KMT2Dc.4197G>T (p.Gln1399His)
c.177G>T (p.Gln59His)
c.4194G>T (p.Gln1398His)
n.6517G>T
n.5506G>T
12g.49048004C=CA2034958193KMT2Dc.4197G= (p.Gln1399=)
c.177G= (p.Gln59=)
c.4194G= (p.Gln1398=)
n.6517G=
n.5506G=
12g.49048004C>GCA384649344KMT2Dc.4197G>C (p.Gln1399His)
c.177G>C (p.Gln59His)
c.4194G>C (p.Gln1398His)
n.6517G>C
n.5506G>C
 dbSNP
12g.49048004C>TCA6547875KMT2Dc.4197G>A (p.Gln1399=)
c.177G>A (p.Gln59=)
c.4194G>A (p.Gln1398=)
n.6517G>A
n.5506G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048005T>ACA384649349KMT2Dc.4196A>T (p.Gln1399Leu)
c.176A>T (p.Gln59Leu)
c.4193A>T (p.Gln1398Leu)
n.6516A>T
n.5505A>T
 dbSNP
12g.49048005T>CCA384649350KMT2Dc.4196A>G (p.Gln1399Arg)
c.176A>G (p.Gln59Arg)
c.4193A>G (p.Gln1398Arg)
n.6516A>G
n.5505A>G
 dbSNP
12g.49048005T>GCA384649351KMT2Dc.4196A>C (p.Gln1399Pro)
c.176A>C (p.Gln59Pro)
c.4193A>C (p.Gln1398Pro)
n.6516A>C
n.5505A>C
12g.49048006G>ACA384649353KMT2Dc.4195C>T (p.Gln1399Ter)
c.175C>T (p.Gln59Ter)
c.4192C>T (p.Gln1398Ter)
n.6515C>T
n.5504C>T
 dbSNP
12g.49048006G>CCA384649356KMT2Dc.4195C>G (p.Gln1399Glu)
c.175C>G (p.Gln59Glu)
c.4192C>G (p.Gln1398Glu)
n.6515C>G
n.5504C>G
 dbSNP
12g.49048006G>TCA384649363KMT2Dc.4195C>A (p.Gln1399Lys)
c.175C>A (p.Gln59Lys)
c.4192C>A (p.Gln1398Lys)
n.6515C>A
n.5504C>A
12g.49048007C>ACA479514393KMT2Dc.4194G>T (p.Ser1398=)
c.174G>T (p.Ser58=)
c.4191G>T (p.Ser1397=)
n.6514G>T
n.5503G>T
 dbSNP gnomAD v2 gnomAD v4
12g.49048007C=CA2034958200KMT2Dc.4194G= (p.Ser1398=)
c.174G= (p.Ser58=)
c.4191G= (p.Ser1397=)
n.6514G=
n.5503G=
12g.49048007C>GCA479514394KMT2Dc.4194G>C (p.Ser1398=)
c.174G>C (p.Ser58=)
c.4191G>C (p.Ser1397=)
n.6514G>C
n.5503G>C
 dbSNP gnomAD v4
12g.49048007C>TCA6547876KMT2Dc.4194G>A (p.Ser1398=)
c.174G>A (p.Ser58=)
c.4191G>A (p.Ser1397=)
n.6514G>A
n.5503G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048008G>ACA384649387KMT2Dc.4193C>T (p.Ser1398Leu)
c.173C>T (p.Ser58Leu)
c.4190C>T (p.Ser1397Leu)
n.6513C>T
n.5502C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49048008G>CCA384649380KMT2Dc.4193C>G (p.Ser1398Trp)
c.173C>G (p.Ser58Trp)
c.4190C>G (p.Ser1397Trp)
n.6513C>G
n.5502C>G
 dbSNP gnomAD v3 gnomAD v4
12g.49048008G=CA2034958207KMT2Dc.4193C= (p.Ser1398=)
c.173C= (p.Ser58=)
c.4190C= (p.Ser1397=)
n.6513C=
n.5502C=
12g.49048008G>TCA384649384KMT2Dc.4193C>A (p.Ser1398Ter)
c.173C>A (p.Ser58Ter)
c.4190C>A (p.Ser1397Ter)
n.6513C>A
n.5502C>A
 gnomAD v4
12g.49048009A>CCA384649394KMT2Dc.4192T>G (p.Ser1398Ala)
c.172T>G (p.Ser58Ala)
c.4189T>G (p.Ser1397Ala)
n.6512T>G
n.5501T>G
12g.49048009A>GCA384649396KMT2Dc.4192T>C (p.Ser1398Pro)
c.172T>C (p.Ser58Pro)
c.4189T>C (p.Ser1397Pro)
n.6512T>C
n.5501T>C
 dbSNP
12g.49048009A>TCA384649399KMT2Dc.4192T>A (p.Ser1398Thr)
c.172T>A (p.Ser58Thr)
c.4189T>A (p.Ser1397Thr)
n.6512T>A
n.5501T>A
 dbSNP
12g.49048010A=CA2034958213KMT2Dc.4191T= (p.Cys1397=)
c.171T= (p.Cys57=)
c.4188T= (p.Cys1396=)
n.6511T=
n.5500T=
12g.49048010A>CCA384649403KMT2Dc.4191T>G (p.Cys1397Trp)
c.171T>G (p.Cys57Trp)
c.4188T>G (p.Cys1396Trp)
n.6511T>G
n.5500T>G
 dbSNP
12g.49048010A>GCA479514395KMT2Dc.4191T>C (p.Cys1397=)
c.171T>C (p.Cys57=)
c.4188T>C (p.Cys1396=)
n.6511T>C
n.5500T>C
 dbSNP
12g.49048010A>TCA384649407KMT2Dc.4191T>A (p.Cys1397Ter)
c.171T>A (p.Cys57Ter)
c.4188T>A (p.Cys1396Ter)
n.6511T>A
n.5500T>A
 dbSNP
12g.49048011C>ACA384649414KMT2Dc.4190G>T (p.Cys1397Phe)
c.170G>T (p.Cys57Phe)
c.4187G>T (p.Cys1396Phe)
n.6510G>T
n.5499G>T
 dbSNP
12g.49048011C>GCA384649422KMT2Dc.4190G>C (p.Cys1397Ser)
c.170G>C (p.Cys57Ser)
c.4187G>C (p.Cys1396Ser)
n.6510G>C
n.5499G>C
 dbSNP
12g.49048011C>TCA384649417KMT2Dc.4190G>A (p.Cys1397Tyr)
c.170G>A (p.Cys57Tyr)
c.4187G>A (p.Cys1396Tyr)
n.6510G>A
n.5499G>A
 dbSNP
12g.49048012A>CCA384649423KMT2Dc.4189T>G (p.Cys1397Gly)
c.169T>G (p.Cys57Gly)
c.4186T>G (p.Cys1396Gly)
n.6509T>G
n.5498T>G
12g.49048012A>GCA384649425KMT2Dc.4189T>C (p.Cys1397Arg)
c.169T>C (p.Cys57Arg)
c.4186T>C (p.Cys1396Arg)
n.6509T>C
n.5498T>C
 dbSNP
12g.49048012A>TCA384649430KMT2Dc.4189T>A (p.Cys1397Ser)
c.169T>A (p.Cys57Ser)
c.4186T>A (p.Cys1396Ser)
n.6509T>A
n.5498T>A
 dbSNP
12g.49048013G>ACA479514399KMT2Dc.4188C>T (p.Ala1396=)
c.168C>T (p.Ala56=)
c.4185C>T (p.Ala1395=)
n.6508C>T
n.5497C>T
 ClinVar dbSNP gnomAD v4
12g.49048013G>CCA479514397KMT2Dc.4188C>G (p.Ala1396=)
c.168C>G (p.Ala56=)
c.4185C>G (p.Ala1395=)
n.6508C>G
n.5497C>G
 dbSNP
12g.49048013G>TCA479514398KMT2Dc.4188C>A (p.Ala1396=)
c.168C>A (p.Ala56=)
c.4185C>A (p.Ala1395=)
n.6508C>A
n.5497C>A
 dbSNP
12g.49048014G>ACA384649439KMT2Dc.4187C>T (p.Ala1396Val)
c.167C>T (p.Ala56Val)
c.4184C>T (p.Ala1395Val)
n.6507C>T
n.5496C>T
 dbSNP
12g.49048014G>CCA384649440KMT2Dc.4187C>G (p.Ala1396Gly)
c.167C>G (p.Ala56Gly)
c.4184C>G (p.Ala1395Gly)
n.6507C>G
n.5496C>G
 dbSNP
12g.49048014G>TCA384649442KMT2Dc.4187C>A (p.Ala1396Asp)
c.167C>A (p.Ala56Asp)
c.4184C>A (p.Ala1395Asp)
n.6507C>A
n.5496C>A
12g.49048015C>ACA384649445KMT2Dc.4186G>T (p.Ala1396Ser)
c.166G>T (p.Ala56Ser)
c.4183G>T (p.Ala1395Ser)
n.6506G>T
n.5495G>T
12g.49048015C=CA2034958218KMT2Dc.4186G= (p.Ala1396=)
c.166G= (p.Ala56=)
c.4183G= (p.Ala1395=)
n.6506G=
n.5495G=
12g.49048015C>GCA384649447KMT2Dc.4186G>C (p.Ala1396Pro)
c.166G>C (p.Ala56Pro)
c.4183G>C (p.Ala1395Pro)
n.6506G>C
n.5495G>C
 gnomAD v4
12g.49048015C>TCA384649450KMT2Dc.4186G>A (p.Ala1396Thr)
c.166G>A (p.Ala56Thr)
c.4183G>A (p.Ala1395Thr)
n.6506G>A
n.5495G>A
 dbSNP
12g.49048016A>CCA479514403KMT2Dc.4185T>G (p.Leu1395=)
c.165T>G (p.Leu55=)
c.4182T>G (p.Leu1394=)
n.6505T>G
n.5494T>G
12g.49048016A>GCA479514404KMT2Dc.4185T>C (p.Leu1395=)
c.165T>C (p.Leu55=)
c.4182T>C (p.Leu1394=)
n.6505T>C
n.5494T>C
12g.49048016A>TCA479514405KMT2Dc.4185T>A (p.Leu1395=)
c.165T>A (p.Leu55=)
c.4182T>A (p.Leu1394=)
n.6505T>A
n.5494T>A
 dbSNP
12g.49048017delCA947442454KMT2Dc.4185del (p.Ala1396ProfsTer21)
c.165del (p.Ala56ProfsTer21)
c.4182del (p.Ala1395ProfsTer21)
n.6505del
n.5494del
 gnomAD v3 gnomAD v4
12g.49048016_49048022delinsAAGGAGGCA2034958222KMT2Dc.4179_4185delinsCCTCCTT (p.His1393=)
c.159_165delinsCCTCCTT (p.His53=)
c.4176_4182delinsCCTCCTT (p.His1392=)
n.6499_6505delinsCCTCCTT
n.5488_5494delinsCCTCCTT
12g.49048017A>CCA384649454KMT2Dc.4184T>G (p.Leu1395Arg)
c.164T>G (p.Leu55Arg)
c.4181T>G (p.Leu1394Arg)
n.6504T>G
n.5493T>G
12g.49048017A>GCA384649455KMT2Dc.4184T>C (p.Leu1395Pro)
c.164T>C (p.Leu55Pro)
c.4181T>C (p.Leu1394Pro)
n.6504T>C
n.5493T>C
12g.49048017A>TCA384649456KMT2Dc.4184T>A (p.Leu1395His)
c.164T>A (p.Leu55His)
c.4181T>A (p.Leu1394His)
n.6504T>A
n.5493T>A
12g.49048017_49048022delCA2034958223KMT2Dc.4179_4184del (p.Leu1394_Leu1395del)
c.159_164del (p.Leu54_Leu55del)
c.4176_4181del (p.Leu1393_Leu1394del)
n.6499_6504del
n.5488_5493del
 dbSNP
12g.49048018G>ACA384649469KMT2Dc.4183C>T (p.Leu1395Phe)
c.163C>T (p.Leu55Phe)
c.4180C>T (p.Leu1394Phe)
n.6503C>T
n.5492C>T
 dbSNP
12g.49048018G>CCA384649461KMT2Dc.4183C>G (p.Leu1395Val)
c.163C>G (p.Leu55Val)
c.4180C>G (p.Leu1394Val)
n.6503C>G
n.5492C>G
 gnomAD v4
12g.49048018G>TCA384649466KMT2Dc.4183C>A (p.Leu1395Ile)
c.163C>A (p.Leu55Ile)
c.4180C>A (p.Leu1394Ile)
n.6503C>A
n.5492C>A
 dbSNP
12g.49048019dupCA2839642194KMT2Dc.4183dup (p.Leu1395ProfsTer?)
c.163dup (p.Leu55ProfsTer?)
c.4180dup (p.Leu1394ProfsTer?)
n.6503dup
n.5492dup
12g.49048018_49048023delinsGGAGGTCA2034958226KMT2Dc.4178_4183delinsACCTCC (p.His1393=)
c.158_163delinsACCTCC (p.His53=)
c.4175_4180delinsACCTCC (p.His1392=)
n.6498_6503delinsACCTCC
n.5487_5492delinsACCTCC
12g.49048019G>ACA209219KMT2Dc.4182C>T (p.Leu1394=)
c.162C>T (p.Leu54=)
c.4179C>T (p.Leu1393=)
n.6502C>T
n.5491C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49048019G>CCA479514406KMT2Dc.4182C>G (p.Leu1394=)
c.162C>G (p.Leu54=)
c.4179C>G (p.Leu1393=)
n.6502C>G
n.5491C>G
 dbSNP
12g.49048019G=CA2034958233KMT2Dc.4182C= (p.Leu1394=)
c.162C= (p.Leu54=)
c.4179C= (p.Leu1393=)
n.6502C=
n.5491C=
12g.49048019G>TCA479514407KMT2Dc.4182C>A (p.Leu1394=)
c.162C>A (p.Leu54=)
c.4179C>A (p.Leu1393=)
n.6502C>A
n.5491C>A
 dbSNP
12g.49048020_49048024delCA947442469KMT2Dc.4178_4182del (p.His1393ProfsTer?)
c.158_162del (p.His53ProfsTer?)
c.4175_4179del (p.His1392ProfsTer?)
n.6498_6502del
n.5487_5491del
 dbSNP gnomAD v3 gnomAD v4
12g.49048020A>CCA384649479KMT2Dc.4181T>G (p.Leu1394Arg)
c.161T>G (p.Leu54Arg)
c.4178T>G (p.Leu1393Arg)
n.6501T>G
n.5490T>G
12g.49048020A>GCA384649483KMT2Dc.4181T>C (p.Leu1394Pro)
c.161T>C (p.Leu54Pro)
c.4178T>C (p.Leu1393Pro)
n.6501T>C
n.5490T>C
12g.49048020A>TCA384649486KMT2Dc.4181T>A (p.Leu1394His)
c.161T>A (p.Leu54His)
c.4178T>A (p.Leu1393His)
n.6501T>A
n.5490T>A
 dbSNP
12g.49048021G>ACA384649487KMT2Dc.4180C>T (p.Leu1394Phe)
c.160C>T (p.Leu54Phe)
c.4177C>T (p.Leu1393Phe)
n.6500C>T
n.5489C>T
 dbSNP
12g.49048021G>CCA384649490KMT2Dc.4180C>G (p.Leu1394Val)
c.160C>G (p.Leu54Val)
c.4177C>G (p.Leu1393Val)
n.6500C>G
n.5489C>G
 ClinVar dbSNP
12g.49048021G>TCA384649492KMT2Dc.4180C>A (p.Leu1394Ile)
c.160C>A (p.Leu54Ile)
c.4177C>A (p.Leu1393Ile)
n.6500C>A
n.5489C>A
12g.49048022G>ACA479514409KMT2Dc.4179C>T (p.His1393=)
c.159C>T (p.His53=)
c.4176C>T (p.His1392=)
n.6499C>T
n.5488C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49048022G>CCA384649497KMT2Dc.4179C>G (p.His1393Gln)
c.159C>G (p.His53Gln)
c.4176C>G (p.His1392Gln)
n.6499C>G
n.5488C>G
 dbSNP
12g.49048022G=CA2034958242KMT2Dc.4179C= (p.His1393=)
c.159C= (p.His53=)
c.4176C= (p.His1392=)
n.6499C=
n.5488C=
12g.49048022G>TCA384649496KMT2Dc.4179C>A (p.His1393Gln)
c.159C>A (p.His53Gln)
c.4176C>A (p.His1392Gln)
n.6499C>A
n.5488C>A
12g.49048023T>ACA384649499KMT2Dc.4178A>T (p.His1393Leu)
c.158A>T (p.His53Leu)
c.4175A>T (p.His1392Leu)
n.6498A>T
n.5487A>T
12g.49048023T>CCA384649501KMT2Dc.4178A>G (p.His1393Arg)
c.158A>G (p.His53Arg)
c.4175A>G (p.His1392Arg)
n.6498A>G
n.5487A>G
12g.49048023T>GCA384649505KMT2Dc.4178A>C (p.His1393Pro)
c.158A>C (p.His53Pro)
c.4175A>C (p.His1392Pro)
n.6498A>C
n.5487A>C
 dbSNP
12g.49048023T=CA2034958250KMT2Dc.4178A= (p.His1393=)
c.158A= (p.His53=)
c.4175A= (p.His1392=)
n.6498A=
n.5487A=
12g.49048024G>ACA384649508KMT2Dc.4177C>T (p.His1393Tyr)
c.157C>T (p.His53Tyr)
c.4174C>T (p.His1392Tyr)
n.6497C>T
n.5486C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.49048024G>CCA384649509KMT2Dc.4177C>G (p.His1393Asp)
c.157C>G (p.His53Asp)
c.4174C>G (p.His1392Asp)
n.6497C>G
n.5486C>G
 dbSNP
12g.49048024G=CA2034958253KMT2Dc.4177C= (p.His1393=)
c.157C= (p.His53=)
c.4174C= (p.His1392=)
n.6497C=
n.5486C=
12g.49048024G>TCA384649510KMT2Dc.4177C>A (p.His1393Asn)
c.157C>A (p.His53Asn)
c.4174C>A (p.His1392Asn)
n.6497C>A
n.5486C>A
 dbSNP
12g.49048025G>ACA479514411KMT2Dc.4176C>T (p.Gly1392=)
c.156C>T (p.Gly52=)
c.4173C>T (p.Gly1391=)
n.6496C>T
n.5485C>T
 dbSNP gnomAD v4
12g.49048025G>CCA479514413KMT2Dc.4176C>G (p.Gly1392=)
c.156C>G (p.Gly52=)
c.4173C>G (p.Gly1391=)
n.6496C>G
n.5485C>G
 dbSNP
12g.49048025G>TCA479514415KMT2Dc.4176C>A (p.Gly1392=)
c.156C>A (p.Gly52=)
c.4173C>A (p.Gly1391=)
n.6496C>A
n.5485C>A
 dbSNP
12g.49048026C>ACA384649512KMT2Dc.4175G>T (p.Gly1392Val)
c.155G>T (p.Gly52Val)
c.4172G>T (p.Gly1391Val)
n.6495G>T
n.5484G>T
 dbSNP
12g.49048026C>GCA384649521KMT2Dc.4175G>C (p.Gly1392Ala)
c.155G>C (p.Gly52Ala)
c.4172G>C (p.Gly1391Ala)
n.6495G>C
n.5484G>C
 dbSNP
12g.49048026C>TCA384649515KMT2Dc.4175G>A (p.Gly1392Asp)
c.155G>A (p.Gly52Asp)
c.4172G>A (p.Gly1391Asp)
n.6495G>A
n.5484G>A
 dbSNP gnomAD v4
12g.49048027C>ACA384649527KMT2Dc.4174G>T (p.Gly1392Cys)
c.154G>T (p.Gly52Cys)
c.4171G>T (p.Gly1391Cys)
n.6494G>T
n.5483G>T
12g.49048027C>GCA384649530KMT2Dc.4174G>C (p.Gly1392Arg)
c.154G>C (p.Gly52Arg)
c.4171G>C (p.Gly1391Arg)
n.6494G>C
n.5483G>C
 dbSNP
12g.49048027C>TCA384649535KMT2Dc.4174G>A (p.Gly1392Ser)
c.154G>A (p.Gly52Ser)
c.4171G>A (p.Gly1391Ser)
n.6494G>A
n.5483G>A
 dbSNP
12g.49048028C>ACA384649538KMT2Dc.4173G>T (p.Glu1391Asp)
c.153G>T (p.Glu51Asp)
c.4170G>T (p.Glu1390Asp)
n.6493G>T
n.5482G>T
 dbSNP
12g.49048028C>GCA384649541KMT2Dc.4173G>C (p.Glu1391Asp)
c.153G>C (p.Glu51Asp)
c.4170G>C (p.Glu1390Asp)
n.6493G>C
n.5482G>C
 dbSNP
12g.49048028C>TCA479514418KMT2Dc.4173G>A (p.Glu1391=)
c.153G>A (p.Glu51=)
c.4170G>A (p.Glu1390=)
n.6493G>A
n.5482G>A
12g.49048029T>ACA384649542KMT2Dc.4172A>T (p.Glu1391Val)
c.152A>T (p.Glu51Val)
c.4169A>T (p.Glu1390Val)
n.6492A>T
n.5481A>T
 dbSNP
12g.49048029T>CCA384649543KMT2Dc.4172A>G (p.Glu1391Gly)
c.152A>G (p.Glu51Gly)
c.4169A>G (p.Glu1390Gly)
n.6492A>G
n.5481A>G
 dbSNP gnomAD v4
12g.49048029T>GCA384649546KMT2Dc.4172A>C (p.Glu1391Ala)
c.152A>C (p.Glu51Ala)
c.4169A>C (p.Glu1390Ala)
n.6492A>C
n.5481A>C
 dbSNP
12g.49048030C>ACA384649549KMT2Dc.4171G>T (p.Glu1391Ter)
c.151G>T (p.Glu51Ter)
c.4168G>T (p.Glu1390Ter)
n.6491G>T
n.5480G>T
12g.49048030C=CA2034958256KMT2Dc.4171G= (p.Glu1391=)
c.151G= (p.Glu51=)
c.4168G= (p.Glu1390=)
n.6491G=
n.5480G=
12g.49048030C>GCA384649554KMT2Dc.4171G>C (p.Glu1391Gln)
c.151G>C (p.Glu51Gln)
c.4168G>C (p.Glu1390Gln)
n.6491G>C
n.5480G>C
 dbSNP
12g.49048030C>TCA384649556KMT2Dc.4171G>A (p.Glu1391Lys)
c.151G>A (p.Glu51Lys)
c.4168G>A (p.Glu1390Lys)
n.6491G>A
n.5480G>A
 ClinVar dbSNP
12g.49048031T>ACA479514419KMT2Dc.4170A>T (p.Ala1390=)
c.150A>T (p.Ala50=)
c.4167A>T (p.Ala1389=)
n.6490A>T
n.5479A>T
 dbSNP
12g.49048031T>CCA479514420KMT2Dc.4170A>G (p.Ala1390=)
c.150A>G (p.Ala50=)
c.4167A>G (p.Ala1389=)
n.6490A>G
n.5479A>G
 dbSNP
12g.49048031T>GCA479514422KMT2Dc.4170A>C (p.Ala1390=)
c.150A>C (p.Ala50=)
c.4167A>C (p.Ala1389=)
n.6490A>C
n.5479A>C
12g.49048032G>ACA384649564KMT2Dc.4169C>T (p.Ala1390Val)
c.149C>T (p.Ala50Val)
c.4166C>T (p.Ala1389Val)
n.6489C>T
n.5478C>T
12g.49048032G>CCA384649582KMT2Dc.4169C>G (p.Ala1390Gly)
c.149C>G (p.Ala50Gly)
c.4166C>G (p.Ala1389Gly)
n.6489C>G
n.5478C>G
12g.49048032G>TCA384649570KMT2Dc.4169C>A (p.Ala1390Glu)
c.149C>A (p.Ala50Glu)
c.4166C>A (p.Ala1389Glu)
n.6489C>A
n.5478C>A
12g.49048032_49048033delinsACA2695216498KMT2Dc.4168_4169delinsT (p.Ala1390Ter)
c.148_149delinsT (p.Ala50Ter)
c.4165_4166delinsT (p.Ala1389Ter)
n.6488_6489delinsT
n.5477_5478delinsT
12g.49048032_49048033delinsGCCA2034958261KMT2Dc.4168_4169delinsGC (p.Ala1390=)
c.148_149delinsGC (p.Ala50=)
c.4165_4166delinsGC (p.Ala1389=)
n.6488_6489delinsGC
n.5477_5478delinsGC
12g.49048033C>ACA384649600KMT2Dc.4168G>T (p.Ala1390Ser)
c.148G>T (p.Ala50Ser)
c.4165G>T (p.Ala1389Ser)
n.6488G>T
n.5477G>T
12g.49048033C>GCA384649604KMT2Dc.4168G>C (p.Ala1390Pro)
c.148G>C (p.Ala50Pro)
c.4165G>C (p.Ala1389Pro)
n.6488G>C
n.5477G>C
 dbSNP
12g.49048033C>TCA384649591KMT2Dc.4168G>A (p.Ala1390Thr)
c.148G>A (p.Ala50Thr)
c.4165G>A (p.Ala1389Thr)
n.6488G>A
n.5477G>A
 dbSNP gnomAD v4
12g.49048038dupCA275008KMT2Dc.4168dup (p.Ala1390GlyfsTer?)
c.148dup (p.Ala50GlyfsTer?)
c.4165dup (p.Ala1389GlyfsTer?)
n.6488dup
n.5477dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048035_49048038dupCA2795893217KMT2Dc.4165_4168dup (p.Ala1390GlyfsTer?)
c.145_148dup (p.Ala50GlyfsTer?)
c.4162_4165dup (p.Ala1389GlyfsTer?)
n.6485_6488dup
n.5474_5477dup
12g.49048038delCA604885594KMT2Dc.4168del (p.Ala1390GlnfsTer27)
c.148del (p.Ala50GlnfsTer27)
c.4165del (p.Ala1389GlnfsTer27)
n.6488del
n.5477del
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49048034C>ACA479514427KMT2Dc.4167G>T (p.Gly1389=)
c.147G>T (p.Gly49=)
c.4164G>T (p.Gly1388=)
n.6487G>T
n.5476G>T
 dbSNP
12g.49048034C=CA2034958271KMT2Dc.4167G= (p.Gly1389=)
c.147G= (p.Gly49=)
c.4164G= (p.Gly1388=)
n.6487G=
n.5476G=
12g.49048034C>GCA479514425KMT2Dc.4167G>C (p.Gly1389=)
c.147G>C (p.Gly49=)
c.4164G>C (p.Gly1388=)
n.6487G>C
n.5476G>C
 dbSNP
12g.49048034C>TCA479514426KMT2Dc.4167G>A (p.Gly1389=)
c.147G>A (p.Gly49=)
c.4164G>A (p.Gly1388=)
n.6487G>A
n.5476G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49048035C>ACA384649609KMT2Dc.4166G>T (p.Gly1389Val)
c.146G>T (p.Gly49Val)
c.4163G>T (p.Gly1388Val)
n.6486G>T
n.5475G>T
 dbSNP
12g.49048035C>GCA384649612KMT2Dc.4166G>C (p.Gly1389Ala)
c.146G>C (p.Gly49Ala)
c.4163G>C (p.Gly1388Ala)
n.6486G>C
n.5475G>C
 dbSNP gnomAD v4
12g.49048035C>TCA384649614KMT2Dc.4166G>A (p.Gly1389Glu)
c.146G>A (p.Gly49Glu)
c.4163G>A (p.Gly1388Glu)
n.6486G>A
n.5475G>A
 gnomAD v4
12g.49048036C>ACA6547877KMT2Dc.4165G>T (p.Gly1389Trp)
c.145G>T (p.Gly49Trp)
c.4162G>T (p.Gly1388Trp)
n.6485G>T
n.5474G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048036C=CA2034958275KMT2Dc.4165G= (p.Gly1389=)
c.145G= (p.Gly49=)
c.4162G= (p.Gly1388=)
n.6485G=
n.5474G=
12g.49048036C>GCA384649617KMT2Dc.4165G>C (p.Gly1389Arg)
c.145G>C (p.Gly49Arg)
c.4162G>C (p.Gly1388Arg)
n.6485G>C
n.5474G>C
 dbSNP
12g.49048036C>TCA384649619KMT2Dc.4165G>A (p.Gly1389Arg)
c.145G>A (p.Gly49Arg)
c.4162G>A (p.Gly1388Arg)
n.6485G>A
n.5474G>A
 dbSNP
12g.49048037C>ACA479514431KMT2Dc.4164G>T (p.Arg1388=)
c.144G>T (p.Arg48=)
c.4161G>T (p.Arg1387=)
n.6484G>T
n.5473G>T
 dbSNP
12g.49048037C>GCA479514432KMT2Dc.4164G>C (p.Arg1388=)
c.144G>C (p.Arg48=)
c.4161G>C (p.Arg1387=)
n.6484G>C
n.5473G>C
 dbSNP
12g.49048037C>TCA479514433KMT2Dc.4164G>A (p.Arg1388=)
c.144G>A (p.Arg48=)
c.4161G>A (p.Arg1387=)
n.6484G>A
n.5473G>A
 dbSNP gnomAD v4
12g.49048038C>ACA6547878KMT2Dc.4163G>T (p.Arg1388Leu)
c.143G>T (p.Arg48Leu)
c.4160G>T (p.Arg1387Leu)
n.6483G>T
n.5472G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49048038C=CA2034958281KMT2Dc.4163G= (p.Arg1388=)
c.143G= (p.Arg48=)
c.4160G= (p.Arg1387=)
n.6483G=
n.5472G=
12g.49048038C>GCA384649620KMT2Dc.4163G>C (p.Arg1388Pro)
c.143G>C (p.Arg48Pro)
c.4160G>C (p.Arg1387Pro)
n.6483G>C
n.5472G>C
 dbSNP
12g.49048038C>TCA6547879KMT2Dc.4163G>A (p.Arg1388Gln)
c.143G>A (p.Arg48Gln)
c.4160G>A (p.Arg1387Gln)
n.6483G>A
n.5472G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49048038_49048039insCGCA2695216500KMT2Dc.4162_4163insCG (p.Arg1388ProfsTer30)
c.142_143insCG (p.Arg48ProfsTer30)
c.4159_4160insCG (p.Arg1387ProfsTer30)
n.6482_6483insCG
n.5471_5472insCG
12g.49048039G>ACA236615325KMT2Dc.4162C>T (p.Arg1388Trp)
c.142C>T (p.Arg48Trp)
c.4159C>T (p.Arg1387Trp)
n.6482C>T
n.5471C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.49048039G>CCA384649623KMT2Dc.4162C>G (p.Arg1388Gly)
c.142C>G (p.Arg48Gly)
c.4159C>G (p.Arg1387Gly)
n.6482C>G
n.5471C>G
 dbSNP gnomAD v4
12g.49048039G=CA2034958286KMT2Dc.4162C= (p.Arg1388=)
c.142C= (p.Arg48=)
c.4159C= (p.Arg1387=)
n.6482C=
n.5471C=
12g.49048039G>TCA479514435KMT2Dc.4162C>A (p.Arg1388=)
c.142C>A (p.Arg48=)
c.4159C>A (p.Arg1387=)
n.6482C>A
n.5471C>A
12g.49048040G>ACA6547880KMT2Dc.4161C>T (p.Gly1387=)
c.141C>T (p.Gly47=)
c.4158C>T (p.Gly1386=)
n.6481C>T
n.5470C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048040G>CCA479514439KMT2Dc.4161C>G (p.Gly1387=)
c.141C>G (p.Gly47=)
c.4158C>G (p.Gly1386=)
n.6481C>G
n.5470C>G
 dbSNP
12g.49048040G=CA2034958291KMT2Dc.4161C= (p.Gly1387=)
c.141C= (p.Gly47=)
c.4158C= (p.Gly1386=)
n.6481C=
n.5470C=
12g.49048040G>TCA479514438KMT2Dc.4161C>A (p.Gly1387=)
c.141C>A (p.Gly47=)
c.4158C>A (p.Gly1386=)
n.6481C>A
n.5470C>A
12g.49048041C>ACA384649626KMT2Dc.4160G>T (p.Gly1387Val)
c.140G>T (p.Gly47Val)
c.4157G>T (p.Gly1386Val)
n.6480G>T
n.5469G>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.49048041C=CA2034958296KMT2Dc.4160G= (p.Gly1387=)
c.140G= (p.Gly47=)
c.4157G= (p.Gly1386=)
n.6480G=
n.5469G=
12g.49048041C>GCA384649629KMT2Dc.4160G>C (p.Gly1387Ala)
c.140G>C (p.Gly47Ala)
c.4157G>C (p.Gly1386Ala)
n.6480G>C
n.5469G>C
 dbSNP COSMIC COSMIC
12g.49048041C>TCA384649628KMT2Dc.4160G>A (p.Gly1387Asp)
c.140G>A (p.Gly47Asp)
c.4157G>A (p.Gly1386Asp)
n.6480G>A
n.5469G>A
 dbSNP
12g.49048042C>ACA384649631KMT2Dc.4159G>T (p.Gly1387Cys)
c.139G>T (p.Gly47Cys)
c.4156G>T (p.Gly1386Cys)
n.6479G>T
n.5468G>T
12g.49048042C>GCA384649633KMT2Dc.4159G>C (p.Gly1387Arg)
c.139G>C (p.Gly47Arg)
c.4156G>C (p.Gly1386Arg)
n.6479G>C
n.5468G>C
 dbSNP
12g.49048042C>TCA384649634KMT2Dc.4159G>A (p.Gly1387Ser)
c.139G>A (p.Gly47Ser)
c.4156G>A (p.Gly1386Ser)
n.6479G>A
n.5468G>A
12g.49048043A>CCA384649635KMT2Dc.4158T>G (p.Phe1386Leu)
c.138T>G (p.Phe46Leu)
c.4155T>G (p.Phe1385Leu)
n.6478T>G
n.5467T>G
 dbSNP
12g.49048043A>GCA479514443KMT2Dc.4158T>C (p.Phe1386=)
c.138T>C (p.Phe46=)
c.4155T>C (p.Phe1385=)
n.6478T>C
n.5467T>C
12g.49048043A>TCA384649636KMT2Dc.4158T>A (p.Phe1386Leu)
c.138T>A (p.Phe46Leu)
c.4155T>A (p.Phe1385Leu)
n.6478T>A
n.5467T>A
 dbSNP
12g.49048044A>CCA384649639KMT2Dc.4157T>G (p.Phe1386Cys)
c.137T>G (p.Phe46Cys)
c.4154T>G (p.Phe1385Cys)
n.6477T>G
n.5466T>G
12g.49048044A>GCA384649641KMT2Dc.4157T>C (p.Phe1386Ser)
c.137T>C (p.Phe46Ser)
c.4154T>C (p.Phe1385Ser)
n.6477T>C
n.5466T>C
 dbSNP
12g.49048044A>TCA384649643KMT2Dc.4157T>A (p.Phe1386Tyr)
c.137T>A (p.Phe46Tyr)
c.4154T>A (p.Phe1385Tyr)
n.6477T>A
n.5466T>A
12g.49048045A>CCA384649645KMT2Dc.4156T>G (p.Phe1386Val)
c.136T>G (p.Phe46Val)
c.4153T>G (p.Phe1385Val)
n.6476T>G
n.5465T>G
12g.49048045A>GCA384649647KMT2Dc.4156T>C (p.Phe1386Leu)
c.136T>C (p.Phe46Leu)
c.4153T>C (p.Phe1385Leu)
n.6476T>C
n.5465T>C
12g.49048045A>TCA384649648KMT2Dc.4156T>A (p.Phe1386Ile)
c.136T>A (p.Phe46Ile)
c.4153T>A (p.Phe1385Ile)
n.6476T>A
n.5465T>A
12g.49048046G>ACA479514447KMT2Dc.4155C>T (p.Ser1385=)
c.135C>T (p.Ser45=)
c.4152C>T (p.Ser1384=)
n.6475C>T
n.5464C>T
 ClinVar dbSNP gnomAD v4
12g.49048046G>CCA384649651KMT2Dc.4155C>G (p.Ser1385Arg)
c.135C>G (p.Ser45Arg)
c.4152C>G (p.Ser1384Arg)
n.6475C>G
n.5464C>G
 dbSNP
12g.49048046G=CA2034958303KMT2Dc.4155C= (p.Ser1385=)
c.135C= (p.Ser45=)
c.4152C= (p.Ser1384=)
n.6475C=
n.5464C=
12g.49048046G>TCA384649653KMT2Dc.4155C>A (p.Ser1385Arg)
c.135C>A (p.Ser45Arg)
c.4152C>A (p.Ser1384Arg)
n.6475C>A
n.5464C>A
 dbSNP
12g.49048047C>ACA384649654KMT2Dc.4154G>T (p.Ser1385Ile)
c.134G>T (p.Ser45Ile)
c.4151G>T (p.Ser1384Ile)
n.6474G>T
n.5463G>T
 COSMIC COSMIC
12g.49048047C>GCA384649659KMT2Dc.4154G>C (p.Ser1385Thr)
c.134G>C (p.Ser45Thr)
c.4151G>C (p.Ser1384Thr)
n.6474G>C
n.5463G>C
 dbSNP
12g.49048047C>TCA384649664KMT2Dc.4154G>A (p.Ser1385Asn)
c.134G>A (p.Ser45Asn)
c.4151G>A (p.Ser1384Asn)
n.6474G>A
n.5463G>A
 dbSNP
12g.49048047dupCA2841830779KMT2Dc.4154dup (p.Ser1385ArgfsTer?)
c.134dup (p.Ser45ArgfsTer?)
c.4151dup (p.Ser1384ArgfsTer?)
n.6474dup
n.5463dup
12g.49048048T>ACA384649666KMT2Dc.4153A>T (p.Ser1385Cys)
c.133A>T (p.Ser45Cys)
c.4150A>T (p.Ser1384Cys)
n.6473A>T
n.5462A>T
 dbSNP
12g.49048048T>CCA384649668KMT2Dc.4153A>G (p.Ser1385Gly)
c.133A>G (p.Ser45Gly)
c.4150A>G (p.Ser1384Gly)
n.6473A>G
n.5462A>G
 dbSNP
12g.49048048T>GCA384649671KMT2Dc.4153A>C (p.Ser1385Arg)
c.133A>C (p.Ser45Arg)
c.4150A>C (p.Ser1384Arg)
n.6473A>C
n.5462A>C
12g.49048049G>ACA479514448KMT2Dc.4152C>T (p.Gly1384=)
c.132C>T (p.Gly44=)
c.4149C>T (p.Gly1383=)
n.6472C>T
n.5461C>T
12g.49048049G>CCA479514449KMT2Dc.4152C>G (p.Gly1384=)
c.132C>G (p.Gly44=)
c.4149C>G (p.Gly1383=)
n.6472C>G
n.5461C>G
12g.49048049G>TCA479514450KMT2Dc.4152C>A (p.Gly1384=)
c.132C>A (p.Gly44=)
c.4149C>A (p.Gly1383=)
n.6472C>A
n.5461C>A
12g.49048049_49048050delinsGCCA2034958309KMT2Dc.4151_4152delinsGC (p.Gly1384=)
c.131_132delinsGC (p.Gly44=)
c.4148_4149delinsGC (p.Gly1383=)
n.6471_6472delinsGC
n.5460_5461delinsGC
12g.49048049_49048050delinsTTCA891843485KMT2Dc.4151_4152delinsAA (p.Gly1384Glu)
c.131_132delinsAA (p.Gly44Glu)
c.4148_4149delinsAA (p.Gly1383Glu)
n.6471_6472delinsAA
n.5460_5461delinsAA
 ClinVar dbSNP
12g.49048050C>ACA384649684KMT2Dc.4151G>T (p.Gly1384Val)
c.131G>T (p.Gly44Val)
c.4148G>T (p.Gly1383Val)
n.6471G>T
n.5460G>T
 dbSNP gnomAD v4 COSMIC COSMIC
12g.49048050C>GCA384649676KMT2Dc.4151G>C (p.Gly1384Ala)
c.131G>C (p.Gly44Ala)
c.4148G>C (p.Gly1383Ala)
n.6471G>C
n.5460G>C
 dbSNP
12g.49048050C>TCA384649679KMT2Dc.4151G>A (p.Gly1384Asp)
c.131G>A (p.Gly44Asp)
c.4148G>A (p.Gly1383Asp)
n.6471G>A
n.5460G>A
 dbSNP COSMIC COSMIC
12g.49048051delCA2726153978KMT2Dc.4151del (p.Gly1384AlafsTer?)
c.131del (p.Gly44AlafsTer?)
c.4148del (p.Gly1383AlafsTer?)
n.6471del
n.5460del
 dbSNP
12g.49048051C>ACA384649687KMT2Dc.4150G>T (p.Gly1384Cys)
c.130G>T (p.Gly44Cys)
c.4147G>T (p.Gly1383Cys)
n.6470G>T
n.5459G>T
12g.49048051C>GCA384649689KMT2Dc.4150G>C (p.Gly1384Arg)
c.130G>C (p.Gly44Arg)
c.4147G>C (p.Gly1383Arg)
n.6470G>C
n.5459G>C
12g.49048051C>TCA384649691KMT2Dc.4150G>A (p.Gly1384Ser)
c.130G>A (p.Gly44Ser)
c.4147G>A (p.Gly1383Ser)
n.6470G>A
n.5459G>A
 ClinVar dbSNP
12g.49048052A=CA2034958312KMT2Dc.4149T= (p.Cys1383=)
c.129T= (p.Cys43=)
c.4146T= (p.Cys1382=)
n.6469T=
n.5458T=
12g.49048052A>CCA384649695KMT2Dc.4149T>G (p.Cys1383Trp)
c.129T>G (p.Cys43Trp)
c.4146T>G (p.Cys1382Trp)
n.6469T>G
n.5458T>G
 dbSNP
12g.49048052A>GCA479514452KMT2Dc.4149T>C (p.Cys1383=)
c.129T>C (p.Cys43=)
c.4146T>C (p.Cys1382=)
n.6469T>C
n.5458T>C
 dbSNP gnomAD v4
12g.49048052A>TCA384649699KMT2Dc.4149T>A (p.Cys1383Ter)
c.129T>A (p.Cys43Ter)
c.4146T>A (p.Cys1382Ter)
n.6469T>A
n.5458T>A
 dbSNP
12g.49048053C>ACA384649705KMT2Dc.4148G>T (p.Cys1383Phe)
c.128G>T (p.Cys43Phe)
c.4145G>T (p.Cys1382Phe)
n.6468G>T
n.5457G>T
12g.49048053C=CA2034958318KMT2Dc.4148G= (p.Cys1383=)
c.128G= (p.Cys43=)
c.4145G= (p.Cys1382=)
n.6468G=
n.5457G=
12g.49048053C>GCA384649710KMT2Dc.4148G>C (p.Cys1383Ser)
c.128G>C (p.Cys43Ser)
c.4145G>C (p.Cys1382Ser)
n.6468G>C
n.5457G>C
 dbSNP
12g.49048053C>TCA16619540KMT2Dc.4148G>A (p.Cys1383Tyr)
c.128G>A (p.Cys43Tyr)
c.4145G>A (p.Cys1382Tyr)
n.6468G>A
n.5457G>A
 ClinVar dbSNP COSMIC COSMIC
12g.49048054A>CCA384649715KMT2Dc.4147T>G (p.Cys1383Gly)
c.127T>G (p.Cys43Gly)
c.4144T>G (p.Cys1382Gly)
n.6467T>G
n.5456T>G
12g.49048054A>GCA384649729KMT2Dc.4147T>C (p.Cys1383Arg)
c.127T>C (p.Cys43Arg)
c.4144T>C (p.Cys1382Arg)
n.6467T>C
n.5456T>C
12g.49048054A>TCA384649732KMT2Dc.4147T>A (p.Cys1383Ser)
c.127T>A (p.Cys43Ser)
c.4144T>A (p.Cys1382Ser)
n.6467T>A
n.5456T>A
12g.49048055T>ACA479514453KMT2Dc.4146A>T (p.Val1382=)
c.126A>T (p.Val42=)
c.4143A>T (p.Val1381=)
n.6466A>T
n.5455A>T
12g.49048055T>CCA479514454KMT2Dc.4146A>G (p.Val1382=)
c.126A>G (p.Val42=)
c.4143A>G (p.Val1381=)
n.6466A>G
n.5455A>G
12g.49048055T>GCA479514455KMT2Dc.4146A>C (p.Val1382=)
c.126A>C (p.Val42=)
c.4143A>C (p.Val1381=)
n.6466A>C
n.5455A>C
12g.49048056A>CCA384649737KMT2Dc.4145T>G (p.Val1382Gly)
c.125T>G (p.Val42Gly)
c.4142T>G (p.Val1381Gly)
n.6465T>G
n.5454T>G
12g.49048056A>GCA384649741KMT2Dc.4145T>C (p.Val1382Ala)
c.125T>C (p.Val42Ala)
c.4142T>C (p.Val1381Ala)
n.6465T>C
n.5454T>C
12g.49048056A>TCA384649744KMT2Dc.4145T>A (p.Val1382Glu)
c.125T>A (p.Val42Glu)
c.4142T>A (p.Val1381Glu)
n.6465T>A
n.5454T>A
12g.49048057C>ACA384649749KMT2Dc.4144G>T (p.Val1382Leu)
c.124G>T (p.Val42Leu)
c.4141G>T (p.Val1381Leu)
n.6464G>T
n.5453G>T
12g.49048057C>GCA384649754KMT2Dc.4144G>C (p.Val1382Leu)
c.124G>C (p.Val42Leu)
c.4141G>C (p.Val1381Leu)
n.6464G>C
n.5453G>C
12g.49048057C>TCA384649758KMT2Dc.4144G>A (p.Val1382Ile)
c.124G>A (p.Val42Ile)
c.4141G>A (p.Val1381Ile)
n.6464G>A
n.5453G>A
12g.49048058delCA2618610079KMT2Dc.4144del (p.Val1382TyrfsTer?)
c.124del (p.Val42TyrfsTer?)
c.4141del (p.Val1381TyrfsTer?)
n.6464del
n.5453del
 gnomAD v4
12g.49048058C>ACA479514456KMT2Dc.4143G>T (p.Val1381=)
c.123G>T (p.Val41=)
c.4140G>T (p.Val1380=)
n.6463G>T
n.5452G>T
 gnomAD v4
12g.49048058C=CA2034958324KMT2Dc.4143G= (p.Val1381=)
c.123G= (p.Val41=)
c.4140G= (p.Val1380=)
n.6463G=
n.5452G=
12g.49048058C>GCA479514457KMT2Dc.4143G>C (p.Val1381=)
c.123G>C (p.Val41=)
c.4140G>C (p.Val1380=)
n.6463G>C
n.5452G>C
 dbSNP
12g.49048058C>TCA222076KMT2Dc.4143G>A (p.Val1381=)
c.123G>A (p.Val41=)
c.4140G>A (p.Val1380=)
n.6463G>A
n.5452G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048064_49048065delCA2580615180KMT2Dc.4142_4143del (p.Val1381GlyfsTer?)
c.122_123del (p.Val41GlyfsTer?)
c.4139_4140del (p.Val1380GlyfsTer?)
n.6462_6463del
n.5451_5452del
 ClinVar dbSNP
12g.49048059A=CA2034958325KMT2Dc.4142T= (p.Val1381=)
c.122T= (p.Val41=)
c.4139T= (p.Val1380=)
n.6462T=
n.5451T=
12g.49048059A>CCA384649766KMT2Dc.4142T>G (p.Val1381Gly)
c.122T>G (p.Val41Gly)
c.4139T>G (p.Val1380Gly)
n.6462T>G
n.5451T>G
12g.49048059A>GCA6547881KMT2Dc.4142T>C (p.Val1381Ala)
c.122T>C (p.Val41Ala)
c.4139T>C (p.Val1380Ala)
n.6462T>C
n.5451T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048059A>TCA384649769KMT2Dc.4142T>A (p.Val1381Glu)
c.122T>A (p.Val41Glu)
c.4139T>A (p.Val1380Glu)
n.6462T>A
n.5451T>A
 dbSNP
12g.49048060C>ACA384649776KMT2Dc.4141G>T (p.Val1381Leu)
c.121G>T (p.Val41Leu)
c.4138G>T (p.Val1380Leu)
n.6461G>T
n.5450G>T
12g.49048060C>GCA384649782KMT2Dc.4141G>C (p.Val1381Leu)
c.121G>C (p.Val41Leu)
c.4138G>C (p.Val1380Leu)
n.6461G>C
n.5450G>C
12g.49048060C>TCA384649777KMT2Dc.4141G>A (p.Val1381Met)
c.121G>A (p.Val41Met)
c.4138G>A (p.Val1380Met)
n.6461G>A
n.5450G>A
 dbSNP
12g.49048061A>CCA384649788KMT2Dc.4140T>G (p.Cys1380Trp)
c.120T>G (p.Cys40Trp)
c.4137T>G (p.Cys1379Trp)
n.6460T>G
n.5449T>G
 dbSNP
12g.49048061A>GCA479514458KMT2Dc.4140T>C (p.Cys1380=)
c.120T>C (p.Cys40=)
c.4137T>C (p.Cys1379=)
n.6460T>C
n.5449T>C
 dbSNP
12g.49048061A>TCA384649792KMT2Dc.4140T>A (p.Cys1380Ter)
c.120T>A (p.Cys40Ter)
c.4137T>A (p.Cys1379Ter)
n.6460T>A
n.5449T>A
12g.49048062C>ACA384649798KMT2Dc.4139G>T (p.Cys1380Phe)
c.119G>T (p.Cys40Phe)
c.4136G>T (p.Cys1379Phe)
n.6459G>T
n.5448G>T
 ClinVar
12g.49048062C>GCA384649805KMT2Dc.4139G>C (p.Cys1380Ser)
c.119G>C (p.Cys40Ser)
c.4136G>C (p.Cys1379Ser)
n.6459G>C
n.5448G>C
12g.49048062C>TCA384649801KMT2Dc.4139G>A (p.Cys1380Tyr)
c.119G>A (p.Cys40Tyr)
c.4136G>A (p.Cys1379Tyr)
n.6459G>A
n.5448G>A
 dbSNP gnomAD v4
12g.49048063A>CCA384649809KMT2Dc.4138T>G (p.Cys1380Gly)
c.118T>G (p.Cys40Gly)
c.4135T>G (p.Cys1379Gly)
n.6458T>G
n.5447T>G
12g.49048063A>GCA384649814KMT2Dc.4138T>C (p.Cys1380Arg)
c.118T>C (p.Cys40Arg)
c.4135T>C (p.Cys1379Arg)
n.6458T>C
n.5447T>C
 ClinVar dbSNP COSMIC COSMIC
12g.49048063A>TCA384649812KMT2Dc.4138T>A (p.Cys1380Ser)
c.118T>A (p.Cys40Ser)
c.4135T>A (p.Cys1379Ser)
n.6458T>A
n.5447T>A
12g.49048064C>ACA384649819KMT2Dc.4137G>T (p.Met1379Ile)
c.117G>T (p.Met39Ile)
c.4134G>T (p.Met1378Ile)
n.6457G>T
n.5446G>T
12g.49048064C>GCA384649821KMT2Dc.4137G>C (p.Met1379Ile)
c.117G>C (p.Met39Ile)
c.4134G>C (p.Met1378Ile)
n.6457G>C
n.5446G>C
 dbSNP
12g.49048064C>TCA384649826KMT2Dc.4137G>A (p.Met1379Ile)
c.117G>A (p.Met39Ile)
c.4134G>A (p.Met1378Ile)
n.6457G>A
n.5446G>A
12g.49048064_49048066delinsCATCA2034958328KMT2Dc.4135_4137delinsATG (p.Met1379=)
c.115_117delinsATG (p.Met39=)
c.4132_4134delinsATG (p.Met1378=)
n.6455_6457delinsATG
n.5444_5446delinsATG
12g.49048065A>CCA384649831KMT2Dc.4136T>G (p.Met1379Arg)
c.116T>G (p.Met39Arg)
c.4133T>G (p.Met1378Arg)
n.6456T>G
n.5445T>G
12g.49048065A>GCA384649834KMT2Dc.4136T>C (p.Met1379Thr)
c.116T>C (p.Met39Thr)
c.4133T>C (p.Met1378Thr)
n.6456T>C
n.5445T>C
 dbSNP gnomAD v4
12g.49048065A>TCA384649838KMT2Dc.4136T>A (p.Met1379Lys)
c.116T>A (p.Met39Lys)
c.4133T>A (p.Met1378Lys)
n.6456T>A
n.5445T>A
12g.49048065_49048066delCA222075KMT2Dc.4135_4136del (p.Met1379ValfsTer?)
c.115_116del (p.Met39ValfsTer?)
c.4132_4133del (p.Met1378ValfsTer?)
n.6455_6456del
n.5444_5445del
 ClinVar dbSNP COSMIC COSMIC
12g.49048066T>ACA384649845KMT2Dc.4135A>T (p.Met1379Leu)
c.115A>T (p.Met39Leu)
c.4132A>T (p.Met1378Leu)
n.6455A>T
n.5444A>T
 dbSNP
12g.49048066T>CCA384649848KMT2Dc.4135A>G (p.Met1379Val)
c.115A>G (p.Met39Val)
c.4132A>G (p.Met1378Val)
n.6455A>G
n.5444A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.49048066T>GCA384649851KMT2Dc.4135A>C (p.Met1379Leu)
c.115A>C (p.Met39Leu)
c.4132A>C (p.Met1378Leu)
n.6455A>C
n.5444A>C
12g.49048066T=CA2034958342KMT2Dc.4135A= (p.Met1379=)
c.115A= (p.Met39=)
c.4132A= (p.Met1378=)
n.6455A=
n.5444A=
12g.49048067G>ACA479514459KMT2Dc.4134C>T (p.Asp1378=)
c.114C>T (p.Asp38=)
c.4131C>T (p.Asp1377=)
n.6454C>T
n.5443C>T
 gnomAD v4 COSMIC COSMIC
12g.49048067G>CCA384649857KMT2Dc.4134C>G (p.Asp1378Glu)
c.114C>G (p.Asp38Glu)
c.4131C>G (p.Asp1377Glu)
n.6454C>G
n.5443C>G
 dbSNP
12g.49048067G>TCA384649858KMT2Dc.4134C>A (p.Asp1378Glu)
c.114C>A (p.Asp38Glu)
c.4131C>A (p.Asp1377Glu)
n.6454C>A
n.5443C>A
 dbSNP gnomAD v4
12g.49048068T>ACA384649868KMT2Dc.4133A>T (p.Asp1378Val)
c.113A>T (p.Asp38Val)
c.4130A>T (p.Asp1377Val)
n.6453A>T
n.5442A>T
 dbSNP
12g.49048068T>CCA384649862KMT2Dc.4133A>G (p.Asp1378Gly)
c.113A>G (p.Asp38Gly)
c.4130A>G (p.Asp1377Gly)
n.6453A>G
n.5442A>G
 dbSNP
12g.49048068T>GCA384649865KMT2Dc.4133A>C (p.Asp1378Ala)
c.113A>C (p.Asp38Ala)
c.4130A>C (p.Asp1377Ala)
n.6453A>C
n.5442A>C
 dbSNP
12g.49048069C>ACA384649874KMT2Dc.4132G>T (p.Asp1378Tyr)
c.112G>T (p.Asp38Tyr)
c.4129G>T (p.Asp1377Tyr)
n.6452G>T
n.5441G>T
 dbSNP
12g.49048069C>GCA384649877KMT2Dc.4132G>C (p.Asp1378His)
c.112G>C (p.Asp38His)
c.4129G>C (p.Asp1377His)
n.6452G>C
n.5441G>C
 dbSNP
12g.49048069C>TCA384649881KMT2Dc.4132G>A (p.Asp1378Asn)
c.112G>A (p.Asp38Asn)
c.4129G>A (p.Asp1377Asn)
n.6452G>A
n.5441G>A
12g.49048070C>ACA384649886KMT2Dc.4132-1G>T (n.4132-1G>T)
c.112-1G>T (n.112-1G>T)
c.4129-1G>T (n.4129-1G>T)
n.6452-1G>T
n.5441-1G>T
 dbSNP COSMIC COSMIC
12g.49048070C>GCA384649888KMT2Dc.4132-1G>C (n.4132-1G>C)
c.112-1G>C (n.112-1G>C)
c.4129-1G>C (n.4129-1G>C)
n.6452-1G>C
n.5441-1G>C
 dbSNP
12g.49048070C>TCA384649893KMT2Dc.4132-1G>A (n.4132-1G>A)
c.112-1G>A (n.112-1G>A)
c.4129-1G>A (n.4129-1G>A)
n.6452-1G>A
n.5441-1G>A
12g.49048071T>ACA384649896KMT2Dc.4132-2A>T (n.4132-2A>T)
c.112-2A>T (n.112-2A>T)
c.4129-2A>T (n.4129-2A>T)
n.6452-2A>T
n.5441-2A>T
12g.49048071T>CCA384649900KMT2Dc.4132-2A>G (n.4132-2A>G)
c.112-2A>G (n.112-2A>G)
c.4129-2A>G (n.4129-2A>G)
n.6452-2A>G
n.5441-2A>G
12g.49048071T>GCA384649903KMT2Dc.4132-2A>C (n.4132-2A>C)
c.112-2A>C (n.112-2A>C)
c.4129-2A>C (n.4129-2A>C)
n.6452-2A>C
n.5441-2A>C
12g.49048071_49048074delCA645573352KMT2Dc.4132-5_4132-2del (n.4132-5_4132-2del)
c.112-5_112-2del (n.112-5_112-2del)
c.4129-5_4129-2del (n.4129-5_4129-2del)
n.6452-5_6452-2del
n.5441-5_5441-2del
 COSMIC COSMIC
12g.49048072G>ACA913191167KMT2Dc.4132-3C>T (n.4132-3C>T)
c.112-3C>T (n.112-3C>T)
c.4129-3C>T (n.4129-3C>T)
n.6452-3C>T
n.5441-3C>T
 ClinVar dbSNP
12g.49048072G>CCA2726090367KMT2Dc.4132-3C>G (n.4132-3C>G)
c.112-3C>G (n.112-3C>G)
c.4129-3C>G (n.4129-3C>G)
n.6452-3C>G
n.5441-3C>G
 dbSNP
12g.49048072G=CA2034958347KMT2Dc.4132-3C= (n.4132-3C=)
c.112-3C= (n.112-3C=)
c.4129-3C= (n.4129-3C=)
n.6452-3C=
n.5441-3C=
12g.49048072G>TCA2726090366KMT2Dc.4132-3C>A (n.4132-3C>A)
c.112-3C>A (n.112-3C>A)
c.4129-3C>A (n.4129-3C>A)
n.6452-3C>A
n.5441-3C>A
 dbSNP
12g.49048075delCA2618610081KMT2Dc.4132-3del (n.4132-3del)
c.112-3del (n.112-3del)
c.4129-3del (n.4129-3del)
n.6452-3del
n.5441-3del
 gnomAD v4
12g.49048073G>ACA2618610082KMT2Dc.4132-4C>T (n.4132-4C>T)
c.112-4C>T (n.112-4C>T)
c.4129-4C>T (n.4129-4C>T)
n.6452-4C>T
n.5441-4C>T
 dbSNP gnomAD v4
12g.49048073G>CCA2726155431KMT2Dc.4132-4C>G (n.4132-4C>G)
c.112-4C>G (n.112-4C>G)
c.4129-4C>G (n.4129-4C>G)
n.6452-4C>G
n.5441-4C>G
 dbSNP
12g.49048073G>TCA2726155830KMT2Dc.4132-4C>A (n.4132-4C>A)
c.112-4C>A (n.112-4C>A)
c.4129-4C>A (n.4129-4C>A)
n.6452-4C>A
n.5441-4C>A
 dbSNP
12g.49048074G>CCA2726155892KMT2Dc.4132-5C>G (n.4132-5C>G)
c.112-5C>G (n.112-5C>G)
c.4129-5C>G (n.4129-5C>G)
n.6452-5C>G
n.5441-5C>G
 dbSNP
12g.49048075G>ACA2034958353KMT2Dc.4132-6C>T (n.4132-6C>T)
c.112-6C>T (n.112-6C>T)
c.4129-6C>T (n.4129-6C>T)
n.6452-6C>T
n.5441-6C>T
 dbSNP
12g.49048075G>CCA2726099158KMT2Dc.4132-6C>G (n.4132-6C>G)
c.112-6C>G (n.112-6C>G)
c.4129-6C>G (n.4129-6C>G)
n.6452-6C>G
n.5441-6C>G
 dbSNP
12g.49048075G=CA2034958350KMT2Dc.4132-6C= (n.4132-6C=)
c.112-6C= (n.112-6C=)
c.4129-6C= (n.4129-6C=)
n.6452-6C=
n.5441-6C=
12g.49048075G>TCA2618610083KMT2Dc.4132-6C>A (n.4132-6C>A)
c.112-6C>A (n.112-6C>A)
c.4129-6C>A (n.4129-6C>A)
n.6452-6C>A
n.5441-6C>A
 gnomAD v4
12g.49048076A>GCA2726155893KMT2Dc.4132-7T>C (n.4132-7T>C)
c.112-7T>C (n.112-7T>C)
c.4129-7T>C (n.4129-7T>C)
n.6452-7T>C
n.5441-7T>C
 dbSNP
12g.49048077A>GCA2618610084KMT2Dc.4132-8T>C (n.4132-8T>C)
c.112-8T>C (n.112-8T>C)
c.4129-8T>C (n.4129-8T>C)
n.6452-8T>C
n.5441-8T>C
 gnomAD v4
12g.49048077_49048078insTAGGGTCAGTTATTTCTTCA2726155915KMT2Dc.4132-9_4132-8insAAGAAATAACTGACCCTA (n.4132-9_4132-8insAAGAAATAACTGACCCTA)
c.112-9_112-8insAAGAAATAACTGACCCTA (n.112-9_112-8insAAGAAATAACTGACCCTA)
c.4129-9_4129-8insAAGAAATAACTGACCCTA (n.4129-9_4129-8insAAGAAATAACTGACCCTA)
n.6452-9_6452-8insAAGAAATAACTGACCCTA
n.5441-9_5441-8insAAGAAATAACTGACCCTA
 dbSNP
12g.49048081_49048082delCA2618610085KMT2Dc.4132-10_4132-9del (n.4132-10_4132-9del)
c.112-10_112-9del (n.112-10_112-9del)
c.4129-10_4129-9del (n.4129-10_4129-9del)
n.6452-10_6452-9del
n.5441-10_5441-9del
 gnomAD v4
12g.49048079C>ACA2726155940KMT2Dc.4132-10G>T (n.4132-10G>T)
c.112-10G>T (n.112-10G>T)
c.4129-10G>T (n.4129-10G>T)
n.6452-10G>T
n.5441-10G>T
 dbSNP
12g.49048079C>GCA2726155939KMT2Dc.4132-10G>C (n.4132-10G>C)
c.112-10G>C (n.112-10G>C)
c.4129-10G>C (n.4129-10G>C)
n.6452-10G>C
n.5441-10G>C
 dbSNP
12g.49048080A>GCA2575144630KMT2Dc.4132-11T>C (n.4132-11T>C)
c.112-11T>C (n.112-11T>C)
c.4129-11T>C (n.4129-11T>C)
n.6452-11T>C
n.5441-11T>C
12g.49048081C>ACA6547883KMT2Dc.4132-12G>T (n.4132-12G>T)
c.112-12G>T (n.112-12G>T)
c.4129-12G>T (n.4129-12G>T)
n.6452-12G>T
n.5441-12G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49048081C=CA2034958358KMT2Dc.4132-12G= (n.4132-12G=)
c.112-12G= (n.112-12G=)
c.4129-12G= (n.4129-12G=)
n.6452-12G=
n.5441-12G=
12g.49048081C>GCA2726056338KMT2Dc.4132-12G>C (n.4132-12G>C)
c.112-12G>C (n.112-12G>C)
c.4129-12G>C (n.4129-12G>C)
n.6452-12G>C
n.5441-12G>C
 dbSNP
12g.49048081C>TCA6547882KMT2Dc.4132-12G>A (n.4132-12G>A)
c.112-12G>A (n.112-12G>A)
c.4129-12G>A (n.4129-12G>A)
n.6452-12G>A
n.5441-12G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.49048082A>GCA2618610086KMT2Dc.4132-13T>C (n.4132-13T>C)
c.112-13T>C (n.112-13T>C)
c.4129-13T>C (n.4129-13T>C)
n.6452-13T>C
n.5441-13T>C
 dbSNP gnomAD v4
12g.49048082A>TCA2726155942KMT2Dc.4132-13T>A (n.4132-13T>A)
c.112-13T>A (n.112-13T>A)
c.4129-13T>A (n.4129-13T>A)
n.6452-13T>A
n.5441-13T>A
 dbSNP
12g.49048083G>ACA604885606KMT2Dc.4132-14C>T (n.4132-14C>T)
c.112-14C>T (n.112-14C>T)
c.4129-14C>T (n.4129-14C>T)
n.6452-14C>T
n.5441-14C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49048083G>CCA604885608KMT2Dc.4132-14C>G (n.4132-14C>G)
c.112-14C>G (n.112-14C>G)
c.4129-14C>G (n.4129-14C>G)
n.6452-14C>G
n.5441-14C>G
 dbSNP gnomAD v2 gnomAD v4
12g.49048083G=CA2034958361KMT2Dc.4132-14C= (n.4132-14C=)
c.112-14C= (n.112-14C=)
c.4129-14C= (n.4129-14C=)
n.6452-14C=
n.5441-14C=
12g.49048083G>TCA2618610087KMT2Dc.4132-14C>A (n.4132-14C>A)
c.112-14C>A (n.112-14C>A)
c.4129-14C>A (n.4129-14C>A)
n.6452-14C>A
n.5441-14C>A
 gnomAD v4
12g.49048084A=CA2034958364KMT2Dc.4132-15T= (n.4132-15T=)
c.112-15T= (n.112-15T=)
c.4129-15T= (n.4129-15T=)
n.6452-15T=
n.5441-15T=
12g.49048084A>CCA2795893225KMT2Dc.4132-15T>G (n.4132-15T>G)
c.112-15T>G (n.112-15T>G)
c.4129-15T>G (n.4129-15T>G)
n.6452-15T>G
n.5441-15T>G
12g.49048084A>GCA604885609KMT2Dc.4132-15T>C (n.4132-15T>C)
c.112-15T>C (n.112-15T>C)
c.4129-15T>C (n.4129-15T>C)
n.6452-15T>C
n.5441-15T>C
 dbSNP gnomAD v2 gnomAD v4
12g.49048084A>TCA2726079218KMT2Dc.4132-15T>A (n.4132-15T>A)
c.112-15T>A (n.112-15T>A)
c.4129-15T>A (n.4129-15T>A)
n.6452-15T>A
n.5441-15T>A
 dbSNP
12g.49048085G>ACA2726155961KMT2Dc.4132-16C>T (n.4132-16C>T)
c.112-16C>T (n.112-16C>T)
c.4129-16C>T (n.4129-16C>T)
n.6452-16C>T
n.5441-16C>T
 dbSNP
12g.49048085G>CCA2726155962KMT2Dc.4132-16C>G (n.4132-16C>G)
c.112-16C>G (n.112-16C>G)
c.4129-16C>G (n.4129-16C>G)
n.6452-16C>G
n.5441-16C>G
 dbSNP
12g.49048085G>TCA2618610088KMT2Dc.4132-16C>A (n.4132-16C>A)
c.112-16C>A (n.112-16C>A)
c.4129-16C>A (n.4129-16C>A)
n.6452-16C>A
n.5441-16C>A
 gnomAD v4
12g.49048086A>TCA2795893226KMT2Dc.4132-17T>A (n.4132-17T>A)
c.112-17T>A (n.112-17T>A)
c.4129-17T>A (n.4129-17T>A)
n.6452-17T>A
n.5441-17T>A
12g.49048087A>CCA2618610089KMT2Dc.4132-18T>G (n.4132-18T>G)
c.112-18T>G (n.112-18T>G)
c.4129-18T>G (n.4129-18T>G)
n.6452-18T>G
n.5441-18T>G
 gnomAD v4
12g.49048088A=CA2034958368KMT2Dc.4132-19T= (n.4132-19T=)
c.112-19T= (n.112-19T=)
c.4129-19T= (n.4129-19T=)
n.6452-19T=
n.5441-19T=
12g.49048088A>GCA2580086364KMT2Dc.4132-19T>C (n.4132-19T>C)
c.112-19T>C (n.112-19T>C)
c.4129-19T>C (n.4129-19T>C)
n.6452-19T>C
n.5441-19T>C
 ClinVar
12g.49048088A>TCA604885611KMT2Dc.4132-19T>A (n.4132-19T>A)
c.112-19T>A (n.112-19T>A)
c.4129-19T>A (n.4129-19T>A)
n.6452-19T>A
n.5441-19T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched