Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118476883C>ACA382823830KMT2Ac.3334C>A (p.Leu1112Ile)
c.817C>A (p.Leu273Ile)
c.718C>A (p.Leu240Ile)
c.1042C>A (p.Leu348Ile)
c.216C>A
c.3235C>A (p.Leu1079Ile)
c.487C>A (p.Leu163Ile)
c.2005C>A (p.Leu669Ile)
c.469C>A (p.Leu157Ile)
c.1141C>A (p.Leu381Ile)
dbSNP
11g.118476883C>GCA382823831KMT2Ac.3334C>G (p.Leu1112Val)
c.817C>G (p.Leu273Val)
c.718C>G (p.Leu240Val)
c.1042C>G (p.Leu348Val)
c.216C>G
c.3235C>G (p.Leu1079Val)
c.487C>G (p.Leu163Val)
c.2005C>G (p.Leu669Val)
c.469C>G (p.Leu157Val)
c.1141C>G (p.Leu381Val)
11g.118476883C>TCA382823833KMT2Ac.3334C>T (p.Leu1112Phe)
c.817C>T (p.Leu273Phe)
c.718C>T (p.Leu240Phe)
c.1042C>T (p.Leu348Phe)
c.216C>T
c.3235C>T (p.Leu1079Phe)
c.487C>T (p.Leu163Phe)
c.2005C>T (p.Leu669Phe)
c.469C>T (p.Leu157Phe)
c.1141C>T (p.Leu381Phe)
gnomAD v4 COSMIC COSMIC
11g.118476884T>ACA382823837KMT2Ac.3335T>A (p.Leu1112His)
c.818T>A (p.Leu273His)
c.719T>A (p.Leu240His)
c.1043T>A (p.Leu348His)
c.217T>A
c.3236T>A (p.Leu1079His)
c.488T>A (p.Leu163His)
c.2006T>A (p.Leu669His)
c.470T>A (p.Leu157His)
c.1142T>A (p.Leu381His)
11g.118476884T>CCA382823834KMT2Ac.3335T>C (p.Leu1112Pro)
c.818T>C (p.Leu273Pro)
c.719T>C (p.Leu240Pro)
c.1043T>C (p.Leu348Pro)
c.217T>C
c.3236T>C (p.Leu1079Pro)
c.488T>C (p.Leu163Pro)
c.2006T>C (p.Leu669Pro)
c.470T>C (p.Leu157Pro)
c.1142T>C (p.Leu381Pro)
11g.118476884T>GCA382823836KMT2Ac.3335T>G (p.Leu1112Arg)
c.818T>G (p.Leu273Arg)
c.719T>G (p.Leu240Arg)
c.1043T>G (p.Leu348Arg)
c.217T>G
c.3236T>G (p.Leu1079Arg)
c.488T>G (p.Leu163Arg)
c.2006T>G (p.Leu669Arg)
c.470T>G (p.Leu157Arg)
c.1142T>G (p.Leu381Arg)
11g.118476885T>ACA477088031KMT2Ac.3336T>A (p.Leu1112=)
c.819T>A (p.Leu273=)
c.720T>A (p.Leu240=)
c.1044T>A (p.Leu348=)
c.218T>A
c.3237T>A (p.Leu1079=)
c.489T>A (p.Leu163=)
c.2007T>A (p.Leu669=)
c.471T>A (p.Leu157=)
c.1143T>A (p.Leu381=)
11g.118476885T>CCA477088029KMT2Ac.3336T>C (p.Leu1112=)
c.819T>C (p.Leu273=)
c.720T>C (p.Leu240=)
c.1044T>C (p.Leu348=)
c.218T>C
c.3237T>C (p.Leu1079=)
c.489T>C (p.Leu163=)
c.2007T>C (p.Leu669=)
c.471T>C (p.Leu157=)
c.1143T>C (p.Leu381=)
11g.118476885T>GCA477088030KMT2Ac.3336T>G (p.Leu1112=)
c.819T>G (p.Leu273=)
c.720T>G (p.Leu240=)
c.1044T>G (p.Leu348=)
c.218T>G
c.3237T>G (p.Leu1079=)
c.489T>G (p.Leu163=)
c.2007T>G (p.Leu669=)
c.471T>G (p.Leu157=)
c.1143T>G (p.Leu381=)
11g.118476886G>ACA382823839KMT2Ac.3337G>A (p.Gly1113Ser)
c.820G>A (p.Gly274Ser)
c.721G>A (p.Gly241Ser)
c.1045G>A (p.Gly349Ser)
c.219G>A
c.3238G>A (p.Gly1080Ser)
c.490G>A (p.Gly164Ser)
c.2008G>A (p.Gly670Ser)
c.472G>A (p.Gly158Ser)
c.1144G>A (p.Gly382Ser)
11g.118476886G>CCA382823840KMT2Ac.3337G>C (p.Gly1113Arg)
c.820G>C (p.Gly274Arg)
c.721G>C (p.Gly241Arg)
c.1045G>C (p.Gly349Arg)
c.219G>C
c.3238G>C (p.Gly1080Arg)
c.490G>C (p.Gly164Arg)
c.2008G>C (p.Gly670Arg)
c.472G>C (p.Gly158Arg)
c.1144G>C (p.Gly382Arg)
11g.118476886G>TCA382823842KMT2Ac.3337G>T (p.Gly1113Cys)
c.820G>T (p.Gly274Cys)
c.721G>T (p.Gly241Cys)
c.1045G>T (p.Gly349Cys)
c.219G>T
c.3238G>T (p.Gly1080Cys)
c.490G>T (p.Gly164Cys)
c.2008G>T (p.Gly670Cys)
c.472G>T (p.Gly158Cys)
c.1144G>T (p.Gly382Cys)
11g.118476887G>ACA382823846KMT2Ac.3338G>A (p.Gly1113Asp)
c.821G>A (p.Gly274Asp)
c.722G>A (p.Gly241Asp)
c.1046G>A (p.Gly349Asp)
c.220G>A
c.3239G>A (p.Gly1080Asp)
c.491G>A (p.Gly164Asp)
c.2009G>A (p.Gly670Asp)
c.473G>A (p.Gly158Asp)
c.1145G>A (p.Gly382Asp)
dbSNP
11g.118476887G>CCA382823847KMT2Ac.3338G>C (p.Gly1113Ala)
c.821G>C (p.Gly274Ala)
c.722G>C (p.Gly241Ala)
c.1046G>C (p.Gly349Ala)
c.220G>C
c.3239G>C (p.Gly1080Ala)
c.491G>C (p.Gly164Ala)
c.2009G>C (p.Gly670Ala)
c.473G>C (p.Gly158Ala)
c.1145G>C (p.Gly382Ala)
11g.118476887G>TCA382823848KMT2Ac.3338G>T (p.Gly1113Val)
c.821G>T (p.Gly274Val)
c.722G>T (p.Gly241Val)
c.1046G>T (p.Gly349Val)
c.220G>T
c.3239G>T (p.Gly1080Val)
c.491G>T (p.Gly164Val)
c.2009G>T (p.Gly670Val)
c.473G>T (p.Gly158Val)
c.1145G>T (p.Gly382Val)
11g.118476888C>ACA477088032KMT2Ac.3339C>A (p.Gly1113=)
c.822C>A (p.Gly274=)
c.723C>A (p.Gly241=)
c.1047C>A (p.Gly349=)
c.221C>A
c.3240C>A (p.Gly1080=)
c.492C>A (p.Gly164=)
c.2010C>A (p.Gly670=)
c.474C>A (p.Gly158=)
c.1146C>A (p.Gly382=)
11g.118476888C>GCA477088033KMT2Ac.3339C>G (p.Gly1113=)
c.822C>G (p.Gly274=)
c.723C>G (p.Gly241=)
c.1047C>G (p.Gly349=)
c.221C>G
c.3240C>G (p.Gly1080=)
c.492C>G (p.Gly164=)
c.2010C>G (p.Gly670=)
c.474C>G (p.Gly158=)
c.1146C>G (p.Gly382=)
11g.118476888C>TCA477088034KMT2Ac.3339C>T (p.Gly1113=)
c.822C>T (p.Gly274=)
c.723C>T (p.Gly241=)
c.1047C>T (p.Gly349=)
c.221C>T
c.3240C>T (p.Gly1080=)
c.492C>T (p.Gly164=)
c.2010C>T (p.Gly670=)
c.474C>T (p.Gly158=)
c.1146C>T (p.Gly382=)
dbSNP
11g.118476889C>ACA477088035KMT2Ac.3340C>A (p.Arg1114=)
c.823C>A (p.Arg275=)
c.724C>A (p.Arg242=)
c.1048C>A (p.Arg350=)
c.222C>A
c.3241C>A (p.Arg1081=)
c.493C>A (p.Arg165=)
c.2011C>A (p.Arg671=)
c.475C>A (p.Arg159=)
c.1147C>A (p.Arg383=)
11g.118476889C>GCA382823849KMT2Ac.3340C>G (p.Arg1114Gly)
c.823C>G (p.Arg275Gly)
c.724C>G (p.Arg242Gly)
c.1048C>G (p.Arg350Gly)
c.222C>G
c.3241C>G (p.Arg1081Gly)
c.493C>G (p.Arg165Gly)
c.2011C>G (p.Arg671Gly)
c.475C>G (p.Arg159Gly)
c.1147C>G (p.Arg383Gly)
11g.118476889C>TCA382823850KMT2Ac.3340C>T (p.Arg1114Ter)
c.823C>T (p.Arg275Ter)
c.724C>T (p.Arg242Ter)
c.1048C>T (p.Arg350Ter)
c.222C>T
c.3241C>T (p.Arg1081Ter)
c.493C>T (p.Arg165Ter)
c.2011C>T (p.Arg671Ter)
c.475C>T (p.Arg159Ter)
c.1147C>T (p.Arg383Ter)
ClinVar dbSNP
11g.118476890G>ACA229523548KMT2Ac.3341G>A (p.Arg1114Gln)
c.824G>A (p.Arg275Gln)
c.725G>A (p.Arg242Gln)
c.1049G>A (p.Arg350Gln)
c.223G>A
c.3242G>A (p.Arg1081Gln)
c.494G>A (p.Arg165Gln)
c.2012G>A (p.Arg671Gln)
c.476G>A (p.Arg159Gln)
c.1148G>A (p.Arg383Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118476890G>CCA382823852KMT2Ac.3341G>C (p.Arg1114Pro)
c.824G>C (p.Arg275Pro)
c.725G>C (p.Arg242Pro)
c.1049G>C (p.Arg350Pro)
c.223G>C
c.3242G>C (p.Arg1081Pro)
c.494G>C (p.Arg165Pro)
c.2012G>C (p.Arg671Pro)
c.476G>C (p.Arg159Pro)
c.1148G>C (p.Arg383Pro)
11g.118476890G=CA2003521032KMT2Ac.3341G= (p.Arg1114=)
c.824G= (p.Arg275=)
c.725G= (p.Arg242=)
c.1049G= (p.Arg350=)
c.223G=
c.3242G= (p.Arg1081=)
c.494G= (p.Arg165=)
c.2012G= (p.Arg671=)
c.476G= (p.Arg159=)
c.1148G= (p.Arg383=)
11g.118476890G>TCA382823853KMT2Ac.3341G>T (p.Arg1114Leu)
c.824G>T (p.Arg275Leu)
c.725G>T (p.Arg242Leu)
c.1049G>T (p.Arg350Leu)
c.223G>T
c.3242G>T (p.Arg1081Leu)
c.494G>T (p.Arg165Leu)
c.2012G>T (p.Arg671Leu)
c.476G>T (p.Arg159Leu)
c.1148G>T (p.Arg383Leu)
11g.118476891A>CCA477088038KMT2Ac.3342A>C (p.Arg1114=)
c.825A>C (p.Arg275=)
c.726A>C (p.Arg242=)
c.1050A>C (p.Arg350=)
c.224A>C
c.3243A>C (p.Arg1081=)
c.495A>C (p.Arg165=)
c.2013A>C (p.Arg671=)
c.477A>C (p.Arg159=)
c.1149A>C (p.Arg383=)
11g.118476891A>GCA477088036KMT2Ac.3342A>G (p.Arg1114=)
c.825A>G (p.Arg275=)
c.726A>G (p.Arg242=)
c.1050A>G (p.Arg350=)
c.224A>G
c.3243A>G (p.Arg1081=)
c.495A>G (p.Arg165=)
c.2013A>G (p.Arg671=)
c.477A>G (p.Arg159=)
c.1149A>G (p.Arg383=)
11g.118476891A>TCA477088037KMT2Ac.3342A>T (p.Arg1114=)
c.825A>T (p.Arg275=)
c.726A>T (p.Arg242=)
c.1050A>T (p.Arg350=)
c.224A>T
c.3243A>T (p.Arg1081=)
c.495A>T (p.Arg165=)
c.2013A>T (p.Arg671=)
c.477A>T (p.Arg159=)
c.1149A>T (p.Arg383=)
11g.118476892A>CCA382823859KMT2Ac.3343A>C (p.Lys1115Gln)
c.826A>C (p.Lys276Gln)
c.727A>C (p.Lys243Gln)
c.1051A>C (p.Lys351Gln)
c.225A>C
c.3244A>C (p.Lys1082Gln)
c.496A>C (p.Lys166Gln)
c.2014A>C (p.Lys672Gln)
c.478A>C (p.Lys160Gln)
c.1150A>C (p.Lys384Gln)
11g.118476892A>GCA382823857KMT2Ac.3343A>G (p.Lys1115Glu)
c.826A>G (p.Lys276Glu)
c.727A>G (p.Lys243Glu)
c.1051A>G (p.Lys351Glu)
c.225A>G
c.3244A>G (p.Lys1082Glu)
c.496A>G (p.Lys166Glu)
c.2014A>G (p.Lys672Glu)
c.478A>G (p.Lys160Glu)
c.1150A>G (p.Lys384Glu)
11g.118476892A>TCA382823855KMT2Ac.3343A>T (p.Lys1115Ter)
c.826A>T (p.Lys276Ter)
c.727A>T (p.Lys243Ter)
c.1051A>T (p.Lys351Ter)
c.225A>T
c.3244A>T (p.Lys1082Ter)
c.496A>T (p.Lys166Ter)
c.2014A>T (p.Lys672Ter)
c.478A>T (p.Lys160Ter)
c.1150A>T (p.Lys384Ter)
11g.118476893A>CCA382823861KMT2Ac.3344A>C (p.Lys1115Thr)
c.827A>C (p.Lys276Thr)
c.728A>C (p.Lys243Thr)
c.1052A>C (p.Lys351Thr)
c.226A>C
c.3245A>C (p.Lys1082Thr)
c.497A>C (p.Lys166Thr)
c.2015A>C (p.Lys672Thr)
c.479A>C (p.Lys160Thr)
c.1151A>C (p.Lys384Thr)
11g.118476893A>GCA382823865KMT2Ac.3344A>G (p.Lys1115Arg)
c.827A>G (p.Lys276Arg)
c.728A>G (p.Lys243Arg)
c.1052A>G (p.Lys351Arg)
c.226A>G
c.3245A>G (p.Lys1082Arg)
c.497A>G (p.Lys166Arg)
c.2015A>G (p.Lys672Arg)
c.479A>G (p.Lys160Arg)
c.1151A>G (p.Lys384Arg)
11g.118476893A>TCA382823863KMT2Ac.3344A>T (p.Lys1115Ile)
c.827A>T (p.Lys276Ile)
c.728A>T (p.Lys243Ile)
c.1052A>T (p.Lys351Ile)
c.226A>T
c.3245A>T (p.Lys1082Ile)
c.497A>T (p.Lys166Ile)
c.2015A>T (p.Lys672Ile)
c.479A>T (p.Lys160Ile)
c.1151A>T (p.Lys384Ile)
11g.118476894A>CCA382823867KMT2Ac.3345A>C (p.Lys1115Asn)
c.828A>C (p.Lys276Asn)
c.729A>C (p.Lys243Asn)
c.1053A>C (p.Lys351Asn)
c.227A>C
c.3246A>C (p.Lys1082Asn)
c.498A>C (p.Lys166Asn)
c.2016A>C (p.Lys672Asn)
c.480A>C (p.Lys160Asn)
c.1152A>C (p.Lys384Asn)
11g.118476894A>GCA477088039KMT2Ac.3345A>G (p.Lys1115=)
c.828A>G (p.Lys276=)
c.729A>G (p.Lys243=)
c.1053A>G (p.Lys351=)
c.227A>G
c.3246A>G (p.Lys1082=)
c.498A>G (p.Lys166=)
c.2016A>G (p.Lys672=)
c.480A>G (p.Lys160=)
c.1152A>G (p.Lys384=)
11g.118476894A>TCA382823869KMT2Ac.3345A>T (p.Lys1115Asn)
c.828A>T (p.Lys276Asn)
c.729A>T (p.Lys243Asn)
c.1053A>T (p.Lys351Asn)
c.227A>T
c.3246A>T (p.Lys1082Asn)
c.498A>T (p.Lys166Asn)
c.2016A>T (p.Lys672Asn)
c.480A>T (p.Lys160Asn)
c.1152A>T (p.Lys384Asn)
11g.118476895C>ACA6303639KMT2Ac.3346C>A (p.Arg1116=)
c.829C>A (p.Arg277=)
c.730C>A (p.Arg244=)
c.1054C>A (p.Arg352=)
c.228C>A
c.3247C>A (p.Arg1083=)
c.499C>A (p.Arg167=)
c.2017C>A (p.Arg673=)
c.481C>A (p.Arg161=)
c.1153C>A (p.Arg385=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118476895C=CA2003521034KMT2Ac.3346C= (p.Arg1116=)
c.829C= (p.Arg277=)
c.730C= (p.Arg244=)
c.1054C= (p.Arg352=)
c.228C=
c.3247C= (p.Arg1083=)
c.499C= (p.Arg167=)
c.2017C= (p.Arg673=)
c.481C= (p.Arg161=)
c.1153C= (p.Arg385=)
11g.118476895C>GCA382823871KMT2Ac.3346C>G (p.Arg1116Gly)
c.829C>G (p.Arg277Gly)
c.730C>G (p.Arg244Gly)
c.1054C>G (p.Arg352Gly)
c.228C>G
c.3247C>G (p.Arg1083Gly)
c.499C>G (p.Arg167Gly)
c.2017C>G (p.Arg673Gly)
c.481C>G (p.Arg161Gly)
c.1153C>G (p.Arg385Gly)
11g.118476895C>TCA382823873KMT2Ac.3346C>T (p.Arg1116Ter)
c.829C>T (p.Arg277Ter)
c.730C>T (p.Arg244Ter)
c.1054C>T (p.Arg352Ter)
c.228C>T
c.3247C>T (p.Arg1083Ter)
c.499C>T (p.Arg167Ter)
c.2017C>T (p.Arg673Ter)
c.481C>T (p.Arg161Ter)
c.1153C>T (p.Arg385Ter)
ClinVar dbSNP
11g.118476896G>ACA382823879KMT2Ac.3347G>A (p.Arg1116Gln)
c.830G>A (p.Arg277Gln)
c.731G>A (p.Arg244Gln)
c.1055G>A (p.Arg352Gln)
c.229G>A
c.3248G>A (p.Arg1083Gln)
c.500G>A (p.Arg167Gln)
c.2018G>A (p.Arg673Gln)
c.482G>A (p.Arg161Gln)
c.1154G>A (p.Arg385Gln)
ClinVar dbSNP gnomAD v4
11g.118476896G>CCA382823877KMT2Ac.3347G>C (p.Arg1116Pro)
c.830G>C (p.Arg277Pro)
c.731G>C (p.Arg244Pro)
c.1055G>C (p.Arg352Pro)
c.229G>C
c.3248G>C (p.Arg1083Pro)
c.500G>C (p.Arg167Pro)
c.2018G>C (p.Arg673Pro)
c.482G>C (p.Arg161Pro)
c.1154G>C (p.Arg385Pro)
11g.118476896G>TCA382823875KMT2Ac.3347G>T (p.Arg1116Leu)
c.830G>T (p.Arg277Leu)
c.731G>T (p.Arg244Leu)
c.1055G>T (p.Arg352Leu)
c.229G>T
c.3248G>T (p.Arg1083Leu)
c.500G>T (p.Arg167Leu)
c.2018G>T (p.Arg673Leu)
c.482G>T (p.Arg161Leu)
c.1154G>T (p.Arg385Leu)
11g.118476897A>CCA477088040KMT2Ac.3348A>C (p.Arg1116=)
c.831A>C (p.Arg277=)
c.732A>C (p.Arg244=)
c.1056A>C (p.Arg352=)
c.230A>C
c.3249A>C (p.Arg1083=)
c.501A>C (p.Arg167=)
c.2019A>C (p.Arg673=)
c.483A>C (p.Arg161=)
c.1155A>C (p.Arg385=)
11g.118476897A>GCA477088041KMT2Ac.3348A>G (p.Arg1116=)
c.831A>G (p.Arg277=)
c.732A>G (p.Arg244=)
c.1056A>G (p.Arg352=)
c.230A>G
c.3249A>G (p.Arg1083=)
c.501A>G (p.Arg167=)
c.2019A>G (p.Arg673=)
c.483A>G (p.Arg161=)
c.1155A>G (p.Arg385=)
11g.118476897A>TCA477088042KMT2Ac.3348A>T (p.Arg1116=)
c.831A>T (p.Arg277=)
c.732A>T (p.Arg244=)
c.1056A>T (p.Arg352=)
c.230A>T
c.3249A>T (p.Arg1083=)
c.501A>T (p.Arg167=)
c.2019A>T (p.Arg673=)
c.483A>T (p.Arg161=)
c.1155A>T (p.Arg385=)
11g.118476898G>ACA382823880KMT2Ac.3349G>A (p.Ala1117Thr)
c.832G>A (p.Ala278Thr)
c.733G>A (p.Ala245Thr)
c.1057G>A (p.Ala353Thr)
c.231G>A
c.3250G>A (p.Ala1084Thr)
c.502G>A (p.Ala168Thr)
c.2020G>A (p.Ala674Thr)
c.484G>A (p.Ala162Thr)
c.1156G>A (p.Ala386Thr)
11g.118476898G>CCA382823881KMT2Ac.3349G>C (p.Ala1117Pro)
c.832G>C (p.Ala278Pro)
c.733G>C (p.Ala245Pro)
c.1057G>C (p.Ala353Pro)
c.231G>C
c.3250G>C (p.Ala1084Pro)
c.502G>C (p.Ala168Pro)
c.2020G>C (p.Ala674Pro)
c.484G>C (p.Ala162Pro)
c.1156G>C (p.Ala386Pro)
11g.118476898G>TCA382823883KMT2Ac.3349G>T (p.Ala1117Ser)
c.832G>T (p.Ala278Ser)
c.733G>T (p.Ala245Ser)
c.1057G>T (p.Ala353Ser)
c.231G>T
c.3250G>T (p.Ala1084Ser)
c.502G>T (p.Ala168Ser)
c.2020G>T (p.Ala674Ser)
c.484G>T (p.Ala162Ser)
c.1156G>T (p.Ala386Ser)
11g.118476899C>ACA382823885KMT2Ac.3350C>A (p.Ala1117Asp)
c.833C>A (p.Ala278Asp)
c.734C>A (p.Ala245Asp)
c.1058C>A (p.Ala353Asp)
c.232C>A
c.3251C>A (p.Ala1084Asp)
c.503C>A (p.Ala168Asp)
c.2021C>A (p.Ala674Asp)
c.485C>A (p.Ala162Asp)
c.1157C>A (p.Ala386Asp)
11g.118476899C=CA2003521044KMT2Ac.3350C= (p.Ala1117=)
c.833C= (p.Ala278=)
c.734C= (p.Ala245=)
c.1058C= (p.Ala353=)
c.232C=
c.3251C= (p.Ala1084=)
c.503C= (p.Ala168=)
c.2021C= (p.Ala674=)
c.485C= (p.Ala162=)
c.1157C= (p.Ala386=)
11g.118476899C>GCA382823887KMT2Ac.3350C>G (p.Ala1117Gly)
c.833C>G (p.Ala278Gly)
c.734C>G (p.Ala245Gly)
c.1058C>G (p.Ala353Gly)
c.232C>G
c.3251C>G (p.Ala1084Gly)
c.503C>G (p.Ala168Gly)
c.2021C>G (p.Ala674Gly)
c.485C>G (p.Ala162Gly)
c.1157C>G (p.Ala386Gly)
dbSNP gnomAD v3 gnomAD v4
11g.118476899C>TCA382823888KMT2Ac.3350C>T (p.Ala1117Val)
c.833C>T (p.Ala278Val)
c.734C>T (p.Ala245Val)
c.1058C>T (p.Ala353Val)
c.232C>T
c.3251C>T (p.Ala1084Val)
c.503C>T (p.Ala168Val)
c.2021C>T (p.Ala674Val)
c.485C>T (p.Ala162Val)
c.1157C>T (p.Ala386Val)
11g.118476900T>ACA477088044KMT2Ac.3351T>A (p.Ala1117=)
c.834T>A (p.Ala278=)
c.735T>A (p.Ala245=)
c.1059T>A (p.Ala353=)
c.233T>A
c.3252T>A (p.Ala1084=)
c.504T>A (p.Ala168=)
c.2022T>A (p.Ala674=)
c.486T>A (p.Ala162=)
c.1158T>A (p.Ala386=)
11g.118476900T>CCA477088045KMT2Ac.3351T>C (p.Ala1117=)
c.834T>C (p.Ala278=)
c.735T>C (p.Ala245=)
c.1059T>C (p.Ala353=)
c.233T>C
c.3252T>C (p.Ala1084=)
c.504T>C (p.Ala168=)
c.2022T>C (p.Ala674=)
c.486T>C (p.Ala162=)
c.1158T>C (p.Ala386=)
11g.118476900T>GCA477088043KMT2Ac.3351T>G (p.Ala1117=)
c.834T>G (p.Ala278=)
c.735T>G (p.Ala245=)
c.1059T>G (p.Ala353=)
c.233T>G
c.3252T>G (p.Ala1084=)
c.504T>G (p.Ala168=)
c.2022T>G (p.Ala674=)
c.486T>G (p.Ala162=)
c.1158T>G (p.Ala386=)
11g.118476901G>ACA382823890KMT2Ac.3352G>A (p.Val1118Met)
c.835G>A (p.Val279Met)
c.736G>A (p.Val246Met)
c.1060G>A (p.Val354Met)
c.234G>A
c.3253G>A (p.Val1085Met)
c.505G>A (p.Val169Met)
c.2023G>A (p.Val675Met)
c.487G>A (p.Val163Met)
c.1159G>A (p.Val387Met)
11g.118476901G>CCA382823894KMT2Ac.3352G>C (p.Val1118Leu)
c.835G>C (p.Val279Leu)
c.736G>C (p.Val246Leu)
c.1060G>C (p.Val354Leu)
c.234G>C
c.3253G>C (p.Val1085Leu)
c.505G>C (p.Val169Leu)
c.2023G>C (p.Val675Leu)
c.487G>C (p.Val163Leu)
c.1159G>C (p.Val387Leu)
11g.118476901G>TCA382823892KMT2Ac.3352G>T (p.Val1118Leu)
c.835G>T (p.Val279Leu)
c.736G>T (p.Val246Leu)
c.1060G>T (p.Val354Leu)
c.234G>T
c.3253G>T (p.Val1085Leu)
c.505G>T (p.Val169Leu)
c.2023G>T (p.Val675Leu)
c.487G>T (p.Val163Leu)
c.1159G>T (p.Val387Leu)
11g.118476902T>ACA382823896KMT2Ac.3353T>A (p.Val1118Glu)
c.836T>A (p.Val279Glu)
c.737T>A (p.Val246Glu)
c.1061T>A (p.Val354Glu)
c.235T>A
c.3254T>A (p.Val1085Glu)
c.506T>A (p.Val169Glu)
c.2024T>A (p.Val675Glu)
c.488T>A (p.Val163Glu)
c.1160T>A (p.Val387Glu)
11g.118476902T>CCA382823897KMT2Ac.3353T>C (p.Val1118Ala)
c.836T>C (p.Val279Ala)
c.737T>C (p.Val246Ala)
c.1061T>C (p.Val354Ala)
c.235T>C
c.3254T>C (p.Val1085Ala)
c.506T>C (p.Val169Ala)
c.2024T>C (p.Val675Ala)
c.488T>C (p.Val163Ala)
c.1160T>C (p.Val387Ala)
11g.118476902T>GCA382823899KMT2Ac.3353T>G (p.Val1118Gly)
c.836T>G (p.Val279Gly)
c.737T>G (p.Val246Gly)
c.1061T>G (p.Val354Gly)
c.235T>G
c.3254T>G (p.Val1085Gly)
c.506T>G (p.Val169Gly)
c.2024T>G (p.Val675Gly)
c.488T>G (p.Val163Gly)
c.1160T>G (p.Val387Gly)
11g.118476903G>ACA477088046KMT2Ac.3354G>A (p.Val1118=)
c.837G>A (p.Val279=)
c.738G>A (p.Val246=)
c.1062G>A (p.Val354=)
c.236G>A
c.3255G>A (p.Val1085=)
c.507G>A (p.Val169=)
c.2025G>A (p.Val675=)
c.489G>A (p.Val163=)
c.1161G>A (p.Val387=)
11g.118476903G>CCA477088047KMT2Ac.3354G>C (p.Val1118=)
c.837G>C (p.Val279=)
c.738G>C (p.Val246=)
c.1062G>C (p.Val354=)
c.236G>C
c.3255G>C (p.Val1085=)
c.507G>C (p.Val169=)
c.2025G>C (p.Val675=)
c.489G>C (p.Val163=)
c.1161G>C (p.Val387=)
11g.118476903G>TCA477088048KMT2Ac.3354G>T (p.Val1118=)
c.837G>T (p.Val279=)
c.738G>T (p.Val246=)
c.1062G>T (p.Val354=)
c.236G>T
c.3255G>T (p.Val1085=)
c.507G>T (p.Val169=)
c.2025G>T (p.Val675=)
c.489G>T (p.Val163=)
c.1161G>T (p.Val387=)
11g.118476904T>ACA382823901KMT2Ac.3355T>A (p.Phe1119Ile)
c.838T>A (p.Phe280Ile)
c.739T>A (p.Phe247Ile)
c.1063T>A (p.Phe355Ile)
c.237T>A
c.3256T>A (p.Phe1086Ile)
c.508T>A (p.Phe170Ile)
c.2026T>A (p.Phe676Ile)
c.490T>A (p.Phe164Ile)
c.1162T>A (p.Phe388Ile)
11g.118476904T>CCA382823903KMT2Ac.3355T>C (p.Phe1119Leu)
c.838T>C (p.Phe280Leu)
c.739T>C (p.Phe247Leu)
c.1063T>C (p.Phe355Leu)
c.237T>C
c.3256T>C (p.Phe1086Leu)
c.508T>C (p.Phe170Leu)
c.2026T>C (p.Phe676Leu)
c.490T>C (p.Phe164Leu)
c.1162T>C (p.Phe388Leu)
gnomAD v4
11g.118476904T>GCA382823905KMT2Ac.3355T>G (p.Phe1119Val)
c.838T>G (p.Phe280Val)
c.739T>G (p.Phe247Val)
c.1063T>G (p.Phe355Val)
c.237T>G
c.3256T>G (p.Phe1086Val)
c.508T>G (p.Phe170Val)
c.2026T>G (p.Phe676Val)
c.490T>G (p.Phe164Val)
c.1162T>G (p.Phe388Val)
11g.118476905T>ACA382823907KMT2Ac.3356T>A (p.Phe1119Tyr)
c.839T>A (p.Phe280Tyr)
c.740T>A (p.Phe247Tyr)
c.1064T>A (p.Phe355Tyr)
c.238T>A
c.3257T>A (p.Phe1086Tyr)
c.509T>A (p.Phe170Tyr)
c.2027T>A (p.Phe676Tyr)
c.491T>A (p.Phe164Tyr)
c.1163T>A (p.Phe388Tyr)
11g.118476905T>CCA382823908KMT2Ac.3356T>C (p.Phe1119Ser)
c.839T>C (p.Phe280Ser)
c.740T>C (p.Phe247Ser)
c.1064T>C (p.Phe355Ser)
c.238T>C
c.3257T>C (p.Phe1086Ser)
c.509T>C (p.Phe170Ser)
c.2027T>C (p.Phe676Ser)
c.491T>C (p.Phe164Ser)
c.1163T>C (p.Phe388Ser)
11g.118476905T>GCA382823910KMT2Ac.3356T>G (p.Phe1119Cys)
c.839T>G (p.Phe280Cys)
c.740T>G (p.Phe247Cys)
c.1064T>G (p.Phe355Cys)
c.238T>G
c.3257T>G (p.Phe1086Cys)
c.509T>G (p.Phe170Cys)
c.2027T>G (p.Phe676Cys)
c.491T>G (p.Phe164Cys)
c.1163T>G (p.Phe388Cys)
11g.118476906T>ACA382823913KMT2Ac.3357T>A (p.Phe1119Leu)
c.840T>A (p.Phe280Leu)
c.741T>A (p.Phe247Leu)
c.1065T>A (p.Phe355Leu)
c.239T>A
c.3258T>A (p.Phe1086Leu)
c.510T>A (p.Phe170Leu)
c.2028T>A (p.Phe676Leu)
c.492T>A (p.Phe164Leu)
c.1164T>A (p.Phe388Leu)
11g.118476906T>CCA477088049KMT2Ac.3357T>C (p.Phe1119=)
c.840T>C (p.Phe280=)
c.741T>C (p.Phe247=)
c.1065T>C (p.Phe355=)
c.239T>C
c.3258T>C (p.Phe1086=)
c.510T>C (p.Phe170=)
c.2028T>C (p.Phe676=)
c.492T>C (p.Phe164=)
c.1164T>C (p.Phe388=)
gnomAD v4
11g.118476906T>GCA382823915KMT2Ac.3357T>G (p.Phe1119Leu)
c.840T>G (p.Phe280Leu)
c.741T>G (p.Phe247Leu)
c.1065T>G (p.Phe355Leu)
c.239T>G
c.3258T>G (p.Phe1086Leu)
c.510T>G (p.Phe170Leu)
c.2028T>G (p.Phe676Leu)
c.492T>G (p.Phe164Leu)
c.1164T>G (p.Phe388Leu)
11g.118476907C>ACA382823917KMT2Ac.3358C>A (p.Pro1120Thr)
c.841C>A (p.Pro281Thr)
c.742C>A (p.Pro248Thr)
c.1066C>A (p.Pro356Thr)
c.240C>A
c.3259C>A (p.Pro1087Thr)
c.511C>A (p.Pro171Thr)
c.2029C>A (p.Pro677Thr)
c.493C>A (p.Pro165Thr)
c.1165C>A (p.Pro389Thr)
11g.118476907C>GCA382823921KMT2Ac.3358C>G (p.Pro1120Ala)
c.841C>G (p.Pro281Ala)
c.742C>G (p.Pro248Ala)
c.1066C>G (p.Pro356Ala)
c.240C>G
c.3259C>G (p.Pro1087Ala)
c.511C>G (p.Pro171Ala)
c.2029C>G (p.Pro677Ala)
c.493C>G (p.Pro165Ala)
c.1165C>G (p.Pro389Ala)
11g.118476907C>TCA382823919KMT2Ac.3358C>T (p.Pro1120Ser)
c.841C>T (p.Pro281Ser)
c.742C>T (p.Pro248Ser)
c.1066C>T (p.Pro356Ser)
c.240C>T
c.3259C>T (p.Pro1087Ser)
c.511C>T (p.Pro171Ser)
c.2029C>T (p.Pro677Ser)
c.493C>T (p.Pro165Ser)
c.1165C>T (p.Pro389Ser)
11g.118476908C>ACA382823924KMT2Ac.3359C>A (p.Pro1120His)
c.842C>A (p.Pro281His)
c.743C>A (p.Pro248His)
c.1067C>A (p.Pro356His)
c.241C>A
c.3260C>A (p.Pro1087His)
c.512C>A (p.Pro171His)
c.2030C>A (p.Pro677His)
c.494C>A (p.Pro165His)
c.1166C>A (p.Pro389His)
11g.118476908C>GCA382823925KMT2Ac.3359C>G (p.Pro1120Arg)
c.842C>G (p.Pro281Arg)
c.743C>G (p.Pro248Arg)
c.1067C>G (p.Pro356Arg)
c.241C>G
c.3260C>G (p.Pro1087Arg)
c.512C>G (p.Pro171Arg)
c.2030C>G (p.Pro677Arg)
c.494C>G (p.Pro165Arg)
c.1166C>G (p.Pro389Arg)
11g.118476908C>TCA382823927KMT2Ac.3359C>T (p.Pro1120Leu)
c.842C>T (p.Pro281Leu)
c.743C>T (p.Pro248Leu)
c.1067C>T (p.Pro356Leu)
c.241C>T
c.3260C>T (p.Pro1087Leu)
c.512C>T (p.Pro171Leu)
c.2030C>T (p.Pro677Leu)
c.494C>T (p.Pro165Leu)
c.1166C>T (p.Pro389Leu)
dbSNP
11g.118476909T>ACA477088050KMT2Ac.3360T>A (p.Pro1120=)
c.843T>A (p.Pro281=)
c.744T>A (p.Pro248=)
c.1068T>A (p.Pro356=)
c.242T>A
c.3261T>A (p.Pro1087=)
c.513T>A (p.Pro171=)
c.2031T>A (p.Pro677=)
c.495T>A (p.Pro165=)
c.1167T>A (p.Pro389=)
11g.118476909T>CCA477088051KMT2Ac.3360T>C (p.Pro1120=)
c.843T>C (p.Pro281=)
c.744T>C (p.Pro248=)
c.1068T>C (p.Pro356=)
c.242T>C
c.3261T>C (p.Pro1087=)
c.513T>C (p.Pro171=)
c.2031T>C (p.Pro677=)
c.495T>C (p.Pro165=)
c.1167T>C (p.Pro389=)
dbSNP
11g.118476909T>GCA477088052KMT2Ac.3360T>G (p.Pro1120=)
c.843T>G (p.Pro281=)
c.744T>G (p.Pro248=)
c.1068T>G (p.Pro356=)
c.242T>G
c.3261T>G (p.Pro1087=)
c.513T>G (p.Pro171=)
c.2031T>G (p.Pro677=)
c.495T>G (p.Pro165=)
c.1167T>G (p.Pro389=)
11g.118476909T=CA2003521053KMT2Ac.3360T= (p.Pro1120=)
c.843T= (p.Pro281=)
c.744T= (p.Pro248=)
c.1068T= (p.Pro356=)
c.242T=
c.3261T= (p.Pro1087=)
c.513T= (p.Pro171=)
c.2031T= (p.Pro677=)
c.495T= (p.Pro165=)
c.1167T= (p.Pro389=)
11g.118476910G>ACA382823929KMT2Ac.3361G>A (p.Asp1121Asn)
c.844G>A (p.Asp282Asn)
c.745G>A (p.Asp249Asn)
c.1069G>A (p.Asp357Asn)
c.243G>A
c.3262G>A (p.Asp1088Asn)
c.514G>A (p.Asp172Asn)
c.2032G>A (p.Asp678Asn)
c.496G>A (p.Asp166Asn)
c.1168G>A (p.Asp390Asn)
dbSNP
11g.118476910G>CCA382823931KMT2Ac.3361G>C (p.Asp1121His)
c.844G>C (p.Asp282His)
c.745G>C (p.Asp249His)
c.1069G>C (p.Asp357His)
c.243G>C
c.3262G>C (p.Asp1088His)
c.514G>C (p.Asp172His)
c.2032G>C (p.Asp678His)
c.496G>C (p.Asp166His)
c.1168G>C (p.Asp390His)
11g.118476910G>TCA382823933KMT2Ac.3361G>T (p.Asp1121Tyr)
c.844G>T (p.Asp282Tyr)
c.745G>T (p.Asp249Tyr)
c.1069G>T (p.Asp357Tyr)
c.243G>T
c.3262G>T (p.Asp1088Tyr)
c.514G>T (p.Asp172Tyr)
c.2032G>T (p.Asp678Tyr)
c.496G>T (p.Asp166Tyr)
c.1168G>T (p.Asp390Tyr)
11g.118476911A>CCA382823935KMT2Ac.3362A>C (p.Asp1121Ala)
c.845A>C (p.Asp282Ala)
c.746A>C (p.Asp249Ala)
c.1070A>C (p.Asp357Ala)
c.244A>C
c.3263A>C (p.Asp1088Ala)
c.515A>C (p.Asp172Ala)
c.2033A>C (p.Asp678Ala)
c.497A>C (p.Asp166Ala)
c.1169A>C (p.Asp390Ala)
11g.118476911A>GCA382823937KMT2Ac.3362A>G (p.Asp1121Gly)
c.845A>G (p.Asp282Gly)
c.746A>G (p.Asp249Gly)
c.1070A>G (p.Asp357Gly)
c.244A>G
c.3263A>G (p.Asp1088Gly)
c.515A>G (p.Asp172Gly)
c.2033A>G (p.Asp678Gly)
c.497A>G (p.Asp166Gly)
c.1169A>G (p.Asp390Gly)
11g.118476911A>TCA382823938KMT2Ac.3362A>T (p.Asp1121Val)
c.845A>T (p.Asp282Val)
c.746A>T (p.Asp249Val)
c.1070A>T (p.Asp357Val)
c.244A>T
c.3263A>T (p.Asp1088Val)
c.515A>T (p.Asp172Val)
c.2033A>T (p.Asp678Val)
c.497A>T (p.Asp166Val)
c.1169A>T (p.Asp390Val)
11g.118476912T>ACA382823940KMT2Ac.3363T>A (p.Asp1121Glu)
c.846T>A (p.Asp282Glu)
c.747T>A (p.Asp249Glu)
c.1071T>A (p.Asp357Glu)
c.245T>A
c.3264T>A (p.Asp1088Glu)
c.516T>A (p.Asp172Glu)
c.2034T>A (p.Asp678Glu)
c.498T>A (p.Asp166Glu)
c.1170T>A (p.Asp390Glu)
11g.118476912T>CCA477088053KMT2Ac.3363T>C (p.Asp1121=)
c.846T>C (p.Asp282=)
c.747T>C (p.Asp249=)
c.1071T>C (p.Asp357=)
c.245T>C
c.3264T>C (p.Asp1088=)
c.516T>C (p.Asp172=)
c.2034T>C (p.Asp678=)
c.498T>C (p.Asp166=)
c.1170T>C (p.Asp390=)
gnomAD v4
11g.118476912T>GCA382823941KMT2Ac.3363T>G (p.Asp1121Glu)
c.846T>G (p.Asp282Glu)
c.747T>G (p.Asp249Glu)
c.1071T>G (p.Asp357Glu)
c.245T>G
c.3264T>G (p.Asp1088Glu)
c.516T>G (p.Asp172Glu)
c.2034T>G (p.Asp678Glu)
c.498T>G (p.Asp166Glu)
c.1170T>G (p.Asp390Glu)
11g.118476913G>ACA382823946KMT2Ac.3364G>A (p.Asp1122Asn)
c.847G>A (p.Asp283Asn)
c.748G>A (p.Asp250Asn)
c.1072G>A (p.Asp358Asn)
c.246G>A
c.3265G>A (p.Asp1089Asn)
c.517G>A (p.Asp173Asn)
c.2035G>A (p.Asp679Asn)
c.499G>A (p.Asp167Asn)
c.1171G>A (p.Asp391Asn)
dbSNP
11g.118476913G>CCA382823945KMT2Ac.3364G>C (p.Asp1122His)
c.847G>C (p.Asp283His)
c.748G>C (p.Asp250His)
c.1072G>C (p.Asp358His)
c.246G>C
c.3265G>C (p.Asp1089His)
c.517G>C (p.Asp173His)
c.2035G>C (p.Asp679His)
c.499G>C (p.Asp167His)
c.1171G>C (p.Asp391His)
11g.118476913G>TCA382823943KMT2Ac.3364G>T (p.Asp1122Tyr)
c.847G>T (p.Asp283Tyr)
c.748G>T (p.Asp250Tyr)
c.1072G>T (p.Asp358Tyr)
c.246G>T
c.3265G>T (p.Asp1089Tyr)
c.517G>T (p.Asp173Tyr)
c.2035G>T (p.Asp679Tyr)
c.499G>T (p.Asp167Tyr)
c.1171G>T (p.Asp391Tyr)
11g.118476914A>CCA382823949KMT2Ac.3365A>C (p.Asp1122Ala)
c.848A>C (p.Asp283Ala)
c.749A>C (p.Asp250Ala)
c.1073A>C (p.Asp358Ala)
c.247A>C
c.3266A>C (p.Asp1089Ala)
c.518A>C (p.Asp173Ala)
c.2036A>C (p.Asp679Ala)
c.500A>C (p.Asp167Ala)
c.1172A>C (p.Asp391Ala)
11g.118476914A>GCA382823950KMT2Ac.3365A>G (p.Asp1122Gly)
c.848A>G (p.Asp283Gly)
c.749A>G (p.Asp250Gly)
c.1073A>G (p.Asp358Gly)
c.247A>G
c.3266A>G (p.Asp1089Gly)
c.518A>G (p.Asp173Gly)
c.2036A>G (p.Asp679Gly)
c.500A>G (p.Asp167Gly)
c.1172A>G (p.Asp391Gly)
11g.118476914A>TCA382823952KMT2Ac.3365A>T (p.Asp1122Val)
c.848A>T (p.Asp283Val)
c.749A>T (p.Asp250Val)
c.1073A>T (p.Asp358Val)
c.247A>T
c.3266A>T (p.Asp1089Val)
c.518A>T (p.Asp173Val)
c.2036A>T (p.Asp679Val)
c.500A>T (p.Asp167Val)
c.1172A>T (p.Asp391Val)
dbSNP
11g.118476915C>ACA382823954KMT2Ac.3366C>A (p.Asp1122Glu)
c.849C>A (p.Asp283Glu)
c.750C>A (p.Asp250Glu)
c.1074C>A (p.Asp358Glu)
c.248C>A
c.3267C>A (p.Asp1089Glu)
c.519C>A (p.Asp173Glu)
c.2037C>A (p.Asp679Glu)
c.501C>A (p.Asp167Glu)
c.1173C>A (p.Asp391Glu)
11g.118476915C=CA2003521060KMT2Ac.3366C= (p.Asp1122=)
c.849C= (p.Asp283=)
c.750C= (p.Asp250=)
c.1074C= (p.Asp358=)
c.248C=
c.3267C= (p.Asp1089=)
c.519C= (p.Asp173=)
c.2037C= (p.Asp679=)
c.501C= (p.Asp167=)
c.1173C= (p.Asp391=)
11g.118476915C>GCA382823956KMT2Ac.3366C>G (p.Asp1122Glu)
c.849C>G (p.Asp283Glu)
c.750C>G (p.Asp250Glu)
c.1074C>G (p.Asp358Glu)
c.248C>G
c.3267C>G (p.Asp1089Glu)
c.519C>G (p.Asp173Glu)
c.2037C>G (p.Asp679Glu)
c.501C>G (p.Asp167Glu)
c.1173C>G (p.Asp391Glu)
11g.118476915C>TCA6303640KMT2Ac.3366C>T (p.Asp1122=)
c.849C>T (p.Asp283=)
c.750C>T (p.Asp250=)
c.1074C>T (p.Asp358=)
c.248C>T
c.3267C>T (p.Asp1089=)
c.519C>T (p.Asp173=)
c.2037C>T (p.Asp679=)
c.501C>T (p.Asp167=)
c.1173C>T (p.Asp391=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118476916A>CCA382823959KMT2Ac.3367A>C (p.Met1123Leu)
c.850A>C (p.Met284Leu)
c.751A>C (p.Met251Leu)
c.1075A>C (p.Met359Leu)
c.249A>C
c.3268A>C (p.Met1090Leu)
c.520A>C (p.Met174Leu)
c.2038A>C (p.Met680Leu)
c.502A>C (p.Met168Leu)
c.1174A>C (p.Met392Leu)
11g.118476916A>GCA382823961KMT2Ac.3367A>G (p.Met1123Val)
c.850A>G (p.Met284Val)
c.751A>G (p.Met251Val)
c.1075A>G (p.Met359Val)
c.249A>G
c.3268A>G (p.Met1090Val)
c.520A>G (p.Met174Val)
c.2038A>G (p.Met680Val)
c.502A>G (p.Met168Val)
c.1174A>G (p.Met392Val)
ClinVar gnomAD v4
11g.118476916A>TCA382823963KMT2Ac.3367A>T (p.Met1123Leu)
c.850A>T (p.Met284Leu)
c.751A>T (p.Met251Leu)
c.1075A>T (p.Met359Leu)
c.249A>T
c.3268A>T (p.Met1090Leu)
c.520A>T (p.Met174Leu)
c.2038A>T (p.Met680Leu)
c.502A>T (p.Met168Leu)
c.1174A>T (p.Met392Leu)
11g.118476917T>ACA382823965KMT2Ac.3368T>A (p.Met1123Lys)
c.851T>A (p.Met284Lys)
c.752T>A (p.Met251Lys)
c.1076T>A (p.Met359Lys)
c.250T>A
c.3269T>A (p.Met1090Lys)
c.521T>A (p.Met174Lys)
c.2039T>A (p.Met680Lys)
c.503T>A (p.Met168Lys)
c.1175T>A (p.Met392Lys)
11g.118476917T>CCA229523566KMT2Ac.3368T>C (p.Met1123Thr)
c.851T>C (p.Met284Thr)
c.752T>C (p.Met251Thr)
c.1076T>C (p.Met359Thr)
c.250T>C
c.3269T>C (p.Met1090Thr)
c.521T>C (p.Met174Thr)
c.2039T>C (p.Met680Thr)
c.503T>C (p.Met168Thr)
c.1175T>C (p.Met392Thr)
dbSNP
11g.118476917T>GCA382823966KMT2Ac.3368T>G (p.Met1123Arg)
c.851T>G (p.Met284Arg)
c.752T>G (p.Met251Arg)
c.1076T>G (p.Met359Arg)
c.250T>G
c.3269T>G (p.Met1090Arg)
c.521T>G (p.Met174Arg)
c.2039T>G (p.Met680Arg)
c.503T>G (p.Met168Arg)
c.1175T>G (p.Met392Arg)
11g.118476917T=CA2003521066KMT2Ac.3368T= (p.Met1123=)
c.851T= (p.Met284=)
c.752T= (p.Met251=)
c.1076T= (p.Met359=)
c.250T=
c.3269T= (p.Met1090=)
c.521T= (p.Met174=)
c.2039T= (p.Met680=)
c.503T= (p.Met168=)
c.1175T= (p.Met392=)
11g.118476918G>ACA382823968KMT2Ac.3369G>A (p.Met1123Ile)
c.852G>A (p.Met284Ile)
c.753G>A (p.Met251Ile)
c.1077G>A (p.Met359Ile)
c.251G>A
c.3270G>A (p.Met1090Ile)
c.522G>A (p.Met174Ile)
c.2040G>A (p.Met680Ile)
c.504G>A (p.Met168Ile)
c.1176G>A (p.Met392Ile)
11g.118476918G>CCA382823969KMT2Ac.3369G>C (p.Met1123Ile)
c.852G>C (p.Met284Ile)
c.753G>C (p.Met251Ile)
c.1077G>C (p.Met359Ile)
c.251G>C
c.3270G>C (p.Met1090Ile)
c.522G>C (p.Met174Ile)
c.2040G>C (p.Met680Ile)
c.504G>C (p.Met168Ile)
c.1176G>C (p.Met392Ile)
11g.118476918G>TCA382823967KMT2Ac.3369G>T (p.Met1123Ile)
c.852G>T (p.Met284Ile)
c.753G>T (p.Met251Ile)
c.1077G>T (p.Met359Ile)
c.251G>T
c.3270G>T (p.Met1090Ile)
c.522G>T (p.Met174Ile)
c.2040G>T (p.Met680Ile)
c.504G>T (p.Met168Ile)
c.1176G>T (p.Met392Ile)
11g.118476919C>ACA382823972KMT2Ac.3370C>A (p.Pro1124Thr)
c.853C>A (p.Pro285Thr)
c.754C>A (p.Pro252Thr)
c.1078C>A (p.Pro360Thr)
c.252C>A
c.3271C>A (p.Pro1091Thr)
c.523C>A (p.Pro175Thr)
c.2041C>A (p.Pro681Thr)
c.505C>A (p.Pro169Thr)
c.1177C>A (p.Pro393Thr)
dbSNP
11g.118476919C>GCA382823970KMT2Ac.3370C>G (p.Pro1124Ala)
c.853C>G (p.Pro285Ala)
c.754C>G (p.Pro252Ala)
c.1078C>G (p.Pro360Ala)
c.252C>G
c.3271C>G (p.Pro1091Ala)
c.523C>G (p.Pro175Ala)
c.2041C>G (p.Pro681Ala)
c.505C>G (p.Pro169Ala)
c.1177C>G (p.Pro393Ala)
11g.118476919C>TCA382823971KMT2Ac.3370C>T (p.Pro1124Ser)
c.853C>T (p.Pro285Ser)
c.754C>T (p.Pro252Ser)
c.1078C>T (p.Pro360Ser)
c.252C>T
c.3271C>T (p.Pro1091Ser)
c.523C>T (p.Pro175Ser)
c.2041C>T (p.Pro681Ser)
c.505C>T (p.Pro169Ser)
c.1177C>T (p.Pro393Ser)
dbSNP
11g.118476920C>ACA382823973KMT2Ac.3371C>A (p.Pro1124His)
c.854C>A (p.Pro285His)
c.755C>A (p.Pro252His)
c.1079C>A (p.Pro360His)
c.253C>A
c.3272C>A (p.Pro1091His)
c.524C>A (p.Pro175His)
c.2042C>A (p.Pro681His)
c.506C>A (p.Pro169His)
c.1178C>A (p.Pro393His)
11g.118476920C>GCA382823974KMT2Ac.3371C>G (p.Pro1124Arg)
c.854C>G (p.Pro285Arg)
c.755C>G (p.Pro252Arg)
c.1079C>G (p.Pro360Arg)
c.253C>G
c.3272C>G (p.Pro1091Arg)
c.524C>G (p.Pro175Arg)
c.2042C>G (p.Pro681Arg)
c.506C>G (p.Pro169Arg)
c.1178C>G (p.Pro393Arg)
11g.118476920C>TCA382823975KMT2Ac.3371C>T (p.Pro1124Leu)
c.854C>T (p.Pro285Leu)
c.755C>T (p.Pro252Leu)
c.1079C>T (p.Pro360Leu)
c.253C>T
c.3272C>T (p.Pro1091Leu)
c.524C>T (p.Pro175Leu)
c.2042C>T (p.Pro681Leu)
c.506C>T (p.Pro169Leu)
c.1178C>T (p.Pro393Leu)
dbSNP
11g.118476921C>ACA477088055KMT2Ac.3372C>A (p.Pro1124=)
c.855C>A (p.Pro285=)
c.756C>A (p.Pro252=)
c.1080C>A (p.Pro360=)
c.254C>A
c.3273C>A (p.Pro1091=)
c.525C>A (p.Pro175=)
c.2043C>A (p.Pro681=)
c.507C>A (p.Pro169=)
c.1179C>A (p.Pro393=)
dbSNP
11g.118476921C>GCA477088056KMT2Ac.3372C>G (p.Pro1124=)
c.855C>G (p.Pro285=)
c.756C>G (p.Pro252=)
c.1080C>G (p.Pro360=)
c.254C>G
c.3273C>G (p.Pro1091=)
c.525C>G (p.Pro175=)
c.2043C>G (p.Pro681=)
c.507C>G (p.Pro169=)
c.1179C>G (p.Pro393=)
11g.118476921C>TCA477088057KMT2Ac.3372C>T (p.Pro1124=)
c.855C>T (p.Pro285=)
c.756C>T (p.Pro252=)
c.1080C>T (p.Pro360=)
c.254C>T
c.3273C>T (p.Pro1091=)
c.525C>T (p.Pro175=)
c.2043C>T (p.Pro681=)
c.507C>T (p.Pro169=)
c.1179C>T (p.Pro393=)
11g.118476922A>CCA382823976KMT2Ac.3373A>C (p.Thr1125Pro)
c.856A>C (p.Thr286Pro)
c.757A>C (p.Thr253Pro)
c.1081A>C (p.Thr361Pro)
c.255A>C
c.3274A>C (p.Thr1092Pro)
c.526A>C (p.Thr176Pro)
c.2044A>C (p.Thr682Pro)
c.508A>C (p.Thr170Pro)
c.1180A>C (p.Thr394Pro)
11g.118476922A>GCA382823977KMT2Ac.3373A>G (p.Thr1125Ala)
c.856A>G (p.Thr286Ala)
c.757A>G (p.Thr253Ala)
c.1081A>G (p.Thr361Ala)
c.255A>G
c.3274A>G (p.Thr1092Ala)
c.526A>G (p.Thr176Ala)
c.2044A>G (p.Thr682Ala)
c.508A>G (p.Thr170Ala)
c.1180A>G (p.Thr394Ala)
11g.118476922A>TCA382823978KMT2Ac.3373A>T (p.Thr1125Ser)
c.856A>T (p.Thr286Ser)
c.757A>T (p.Thr253Ser)
c.1081A>T (p.Thr361Ser)
c.255A>T
c.3274A>T (p.Thr1092Ser)
c.526A>T (p.Thr176Ser)
c.2044A>T (p.Thr682Ser)
c.508A>T (p.Thr170Ser)
c.1180A>T (p.Thr394Ser)
11g.118476923C>ACA382823979KMT2Ac.3374C>A (p.Thr1125Asn)
c.857C>A (p.Thr286Asn)
c.758C>A (p.Thr253Asn)
c.1082C>A (p.Thr361Asn)
c.256C>A
c.3275C>A (p.Thr1092Asn)
c.527C>A (p.Thr176Asn)
c.2045C>A (p.Thr682Asn)
c.509C>A (p.Thr170Asn)
c.1181C>A (p.Thr394Asn)
11g.118476923C>GCA382823980KMT2Ac.3374C>G (p.Thr1125Ser)
c.857C>G (p.Thr286Ser)
c.758C>G (p.Thr253Ser)
c.1082C>G (p.Thr361Ser)
c.256C>G
c.3275C>G (p.Thr1092Ser)
c.527C>G (p.Thr176Ser)
c.2045C>G (p.Thr682Ser)
c.509C>G (p.Thr170Ser)
c.1181C>G (p.Thr394Ser)
11g.118476923C>TCA382823981KMT2Ac.3374C>T (p.Thr1125Ile)
c.857C>T (p.Thr286Ile)
c.758C>T (p.Thr253Ile)
c.1082C>T (p.Thr361Ile)
c.256C>T
c.3275C>T (p.Thr1092Ile)
c.527C>T (p.Thr176Ile)
c.2045C>T (p.Thr682Ile)
c.509C>T (p.Thr170Ile)
c.1181C>T (p.Thr394Ile)
11g.118476924C>ACA477088058KMT2Ac.3375C>A (p.Thr1125=)
c.858C>A (p.Thr286=)
c.759C>A (p.Thr253=)
c.1083C>A (p.Thr361=)
c.257C>A
c.3276C>A (p.Thr1092=)
c.528C>A (p.Thr176=)
c.2046C>A (p.Thr682=)
c.510C>A (p.Thr170=)
c.1182C>A (p.Thr394=)
dbSNP gnomAD v2
11g.118476924C=CA2003521072KMT2Ac.3375C= (p.Thr1125=)
c.858C= (p.Thr286=)
c.759C= (p.Thr253=)
c.1083C= (p.Thr361=)
c.257C=
c.3276C= (p.Thr1092=)
c.528C= (p.Thr176=)
c.2046C= (p.Thr682=)
c.510C= (p.Thr170=)
c.1182C= (p.Thr394=)
11g.118476924C>GCA477088059KMT2Ac.3375C>G (p.Thr1125=)
c.858C>G (p.Thr286=)
c.759C>G (p.Thr253=)
c.1083C>G (p.Thr361=)
c.257C>G
c.3276C>G (p.Thr1092=)
c.528C>G (p.Thr176=)
c.2046C>G (p.Thr682=)
c.510C>G (p.Thr170=)
c.1182C>G (p.Thr394=)
gnomAD v4
11g.118476924C>TCA477088060KMT2Ac.3375C>T (p.Thr1125=)
c.858C>T (p.Thr286=)
c.759C>T (p.Thr253=)
c.1083C>T (p.Thr361=)
c.257C>T
c.3276C>T (p.Thr1092=)
c.528C>T (p.Thr176=)
c.2046C>T (p.Thr682=)
c.510C>T (p.Thr170=)
c.1182C>T (p.Thr394=)
11g.118476925C>ACA382823982KMT2Ac.3376C>A (p.Leu1126Met)
c.859C>A (p.Leu287Met)
c.760C>A (p.Leu254Met)
c.1084C>A (p.Leu362Met)
c.258C>A
c.3277C>A (p.Leu1093Met)
c.529C>A (p.Leu177Met)
c.2047C>A (p.Leu683Met)
c.511C>A (p.Leu171Met)
c.1183C>A (p.Leu395Met)
dbSNP
11g.118476925C>GCA382823983KMT2Ac.3376C>G (p.Leu1126Val)
c.859C>G (p.Leu287Val)
c.760C>G (p.Leu254Val)
c.1084C>G (p.Leu362Val)
c.258C>G
c.3277C>G (p.Leu1093Val)
c.529C>G (p.Leu177Val)
c.2047C>G (p.Leu683Val)
c.511C>G (p.Leu171Val)
c.1183C>G (p.Leu395Val)
11g.118476925C>TCA477088061KMT2Ac.3376C>T (p.Leu1126=)
c.859C>T (p.Leu287=)
c.760C>T (p.Leu254=)
c.1084C>T (p.Leu362=)
c.258C>T
c.3277C>T (p.Leu1093=)
c.529C>T (p.Leu177=)
c.2047C>T (p.Leu683=)
c.511C>T (p.Leu171=)
c.1183C>T (p.Leu395=)
11g.118476926T>ACA382823984KMT2Ac.3377T>A (p.Leu1126Gln)
c.860T>A (p.Leu287Gln)
c.761T>A (p.Leu254Gln)
c.1085T>A (p.Leu362Gln)
c.259T>A
c.3278T>A (p.Leu1093Gln)
c.530T>A (p.Leu177Gln)
c.2048T>A (p.Leu683Gln)
c.512T>A (p.Leu171Gln)
c.1184T>A (p.Leu395Gln)
11g.118476926T>CCA382823986KMT2Ac.3377T>C (p.Leu1126Pro)
c.860T>C (p.Leu287Pro)
c.761T>C (p.Leu254Pro)
c.1085T>C (p.Leu362Pro)
c.259T>C
c.3278T>C (p.Leu1093Pro)
c.530T>C (p.Leu177Pro)
c.2048T>C (p.Leu683Pro)
c.512T>C (p.Leu171Pro)
c.1184T>C (p.Leu395Pro)
11g.118476926T>GCA382823985KMT2Ac.3377T>G (p.Leu1126Arg)
c.860T>G (p.Leu287Arg)
c.761T>G (p.Leu254Arg)
c.1085T>G (p.Leu362Arg)
c.259T>G
c.3278T>G (p.Leu1093Arg)
c.530T>G (p.Leu177Arg)
c.2048T>G (p.Leu683Arg)
c.512T>G (p.Leu171Arg)
c.1184T>G (p.Leu395Arg)
11g.118476927G>ACA477088064KMT2Ac.3378G>A (p.Leu1126=)
c.861G>A (p.Leu287=)
c.762G>A (p.Leu254=)
c.1086G>A (p.Leu362=)
c.260G>A
c.3279G>A (p.Leu1093=)
c.531G>A (p.Leu177=)
c.2049G>A (p.Leu683=)
c.513G>A (p.Leu171=)
c.1185G>A (p.Leu395=)
dbSNP
11g.118476927G>CCA477088063KMT2Ac.3378G>C (p.Leu1126=)
c.861G>C (p.Leu287=)
c.762G>C (p.Leu254=)
c.1086G>C (p.Leu362=)
c.260G>C
c.3279G>C (p.Leu1093=)
c.531G>C (p.Leu177=)
c.2049G>C (p.Leu683=)
c.513G>C (p.Leu171=)
c.1185G>C (p.Leu395=)
11g.118476927G>TCA477088062KMT2Ac.3378G>T (p.Leu1126=)
c.861G>T (p.Leu287=)
c.762G>T (p.Leu254=)
c.1086G>T (p.Leu362=)
c.260G>T
c.3279G>T (p.Leu1093=)
c.531G>T (p.Leu177=)
c.2049G>T (p.Leu683=)
c.513G>T (p.Leu171=)
c.1185G>T (p.Leu395=)
11g.118476928A>CCA382823987KMT2Ac.3379A>C (p.Ser1127Arg)
c.862A>C (p.Ser288Arg)
c.763A>C (p.Ser255Arg)
c.1087A>C (p.Ser363Arg)
c.261A>C
c.3280A>C (p.Ser1094Arg)
c.532A>C (p.Ser178Arg)
c.2050A>C (p.Ser684Arg)
c.514A>C (p.Ser172Arg)
c.1186A>C (p.Ser396Arg)
11g.118476928A>GCA382823988KMT2Ac.3379A>G (p.Ser1127Gly)
c.862A>G (p.Ser288Gly)
c.763A>G (p.Ser255Gly)
c.1087A>G (p.Ser363Gly)
c.261A>G
c.3280A>G (p.Ser1094Gly)
c.532A>G (p.Ser178Gly)
c.2050A>G (p.Ser684Gly)
c.514A>G (p.Ser172Gly)
c.1186A>G (p.Ser396Gly)
11g.118476928A>TCA382823989KMT2Ac.3379A>T (p.Ser1127Cys)
c.862A>T (p.Ser288Cys)
c.763A>T (p.Ser255Cys)
c.1087A>T (p.Ser363Cys)
c.261A>T
c.3280A>T (p.Ser1094Cys)
c.532A>T (p.Ser178Cys)
c.2050A>T (p.Ser684Cys)
c.514A>T (p.Ser172Cys)
c.1186A>T (p.Ser396Cys)
11g.118476929G>ACA382823990KMT2Ac.3380G>A (p.Ser1127Asn)
c.863G>A (p.Ser288Asn)
c.764G>A (p.Ser255Asn)
c.1088G>A (p.Ser363Asn)
c.262G>A
c.3281G>A (p.Ser1094Asn)
c.533G>A (p.Ser178Asn)
c.2051G>A (p.Ser684Asn)
c.515G>A (p.Ser172Asn)
c.1187G>A (p.Ser396Asn)
11g.118476929G>CCA382823991KMT2Ac.3380G>C (p.Ser1127Thr)
c.863G>C (p.Ser288Thr)
c.764G>C (p.Ser255Thr)
c.1088G>C (p.Ser363Thr)
c.262G>C
c.3281G>C (p.Ser1094Thr)
c.533G>C (p.Ser178Thr)
c.2051G>C (p.Ser684Thr)
c.515G>C (p.Ser172Thr)
c.1187G>C (p.Ser396Thr)
11g.118476929G>TCA382823992KMT2Ac.3380G>T (p.Ser1127Ile)
c.863G>T (p.Ser288Ile)
c.764G>T (p.Ser255Ile)
c.1088G>T (p.Ser363Ile)
c.262G>T
c.3281G>T (p.Ser1094Ile)
c.533G>T (p.Ser178Ile)
c.2051G>T (p.Ser684Ile)
c.515G>T (p.Ser172Ile)
c.1187G>T (p.Ser396Ile)
11g.118476930T>ACA382823993KMT2Ac.3381T>A (p.Ser1127Arg)
c.864T>A (p.Ser288Arg)
c.765T>A (p.Ser255Arg)
c.1089T>A (p.Ser363Arg)
c.263T>A
c.3282T>A (p.Ser1094Arg)
c.534T>A (p.Ser178Arg)
c.2052T>A (p.Ser684Arg)
c.516T>A (p.Ser172Arg)
c.1188T>A (p.Ser396Arg)
11g.118476930T>CCA477088065KMT2Ac.3381T>C (p.Ser1127=)
c.864T>C (p.Ser288=)
c.765T>C (p.Ser255=)
c.1089T>C (p.Ser363=)
c.263T>C
c.3282T>C (p.Ser1094=)
c.534T>C (p.Ser178=)
c.2052T>C (p.Ser684=)
c.516T>C (p.Ser172=)
c.1188T>C (p.Ser396=)
11g.118476930T>GCA382823994KMT2Ac.3381T>G (p.Ser1127Arg)
c.864T>G (p.Ser288Arg)
c.765T>G (p.Ser255Arg)
c.1089T>G (p.Ser363Arg)
c.263T>G
c.3282T>G (p.Ser1094Arg)
c.534T>G (p.Ser178Arg)
c.2052T>G (p.Ser684Arg)
c.516T>G (p.Ser172Arg)
c.1188T>G (p.Ser396Arg)
11g.118476931G>ACA382823995KMT2Ac.3382G>A (p.Ala1128Thr)
c.865G>A (p.Ala289Thr)
c.766G>A (p.Ala256Thr)
c.1090G>A (p.Ala364Thr)
c.264G>A
c.3283G>A (p.Ala1095Thr)
c.535G>A (p.Ala179Thr)
c.2053G>A (p.Ala685Thr)
c.517G>A (p.Ala173Thr)
c.1189G>A (p.Ala397Thr)
ClinVar
11g.118476931G>CCA382823996KMT2Ac.3382G>C (p.Ala1128Pro)
c.865G>C (p.Ala289Pro)
c.766G>C (p.Ala256Pro)
c.1090G>C (p.Ala364Pro)
c.264G>C
c.3283G>C (p.Ala1095Pro)
c.535G>C (p.Ala179Pro)
c.2053G>C (p.Ala685Pro)
c.517G>C (p.Ala173Pro)
c.1189G>C (p.Ala397Pro)
11g.118476931G>TCA382823997KMT2Ac.3382G>T (p.Ala1128Ser)
c.865G>T (p.Ala289Ser)
c.766G>T (p.Ala256Ser)
c.1090G>T (p.Ala364Ser)
c.264G>T
c.3283G>T (p.Ala1095Ser)
c.535G>T (p.Ala179Ser)
c.2053G>T (p.Ala685Ser)
c.517G>T (p.Ala173Ser)
c.1189G>T (p.Ala397Ser)
11g.118476932C>ACA382823999KMT2Ac.3383C>A (p.Ala1128Asp)
c.866C>A (p.Ala289Asp)
c.767C>A (p.Ala256Asp)
c.1091C>A (p.Ala364Asp)
c.265C>A
c.3284C>A (p.Ala1095Asp)
c.536C>A (p.Ala179Asp)
c.2054C>A (p.Ala685Asp)
c.518C>A (p.Ala173Asp)
c.1190C>A (p.Ala397Asp)
11g.118476932C>GCA382824000KMT2Ac.3383C>G (p.Ala1128Gly)
c.866C>G (p.Ala289Gly)
c.767C>G (p.Ala256Gly)
c.1091C>G (p.Ala364Gly)
c.265C>G
c.3284C>G (p.Ala1095Gly)
c.536C>G (p.Ala179Gly)
c.2054C>G (p.Ala685Gly)
c.518C>G (p.Ala173Gly)
c.1190C>G (p.Ala397Gly)
11g.118476932C>TCA382823998KMT2Ac.3383C>T (p.Ala1128Val)
c.866C>T (p.Ala289Val)
c.767C>T (p.Ala256Val)
c.1091C>T (p.Ala364Val)
c.265C>T
c.3284C>T (p.Ala1095Val)
c.536C>T (p.Ala179Val)
c.2054C>T (p.Ala685Val)
c.518C>T (p.Ala173Val)
c.1190C>T (p.Ala397Val)
11g.118476933C>ACA477088067KMT2Ac.3384C>A (p.Ala1128=)
c.867C>A (p.Ala289=)
c.768C>A (p.Ala256=)
c.1092C>A (p.Ala364=)
c.266C>A
c.3285C>A (p.Ala1095=)
c.537C>A (p.Ala179=)
c.2055C>A (p.Ala685=)
c.519C>A (p.Ala173=)
c.1191C>A (p.Ala397=)
11g.118476933C>GCA477088069KMT2Ac.3384C>G (p.Ala1128=)
c.867C>G (p.Ala289=)
c.768C>G (p.Ala256=)
c.1092C>G (p.Ala364=)
c.266C>G
c.3285C>G (p.Ala1095=)
c.537C>G (p.Ala179=)
c.2055C>G (p.Ala685=)
c.519C>G (p.Ala173=)
c.1191C>G (p.Ala397=)
11g.118476933C>TCA477088068KMT2Ac.3384C>T (p.Ala1128=)
c.867C>T (p.Ala289=)
c.768C>T (p.Ala256=)
c.1092C>T (p.Ala364=)
c.266C>T
c.3285C>T (p.Ala1095=)
c.537C>T (p.Ala179=)
c.2055C>T (p.Ala685=)
c.519C>T (p.Ala173=)
c.1191C>T (p.Ala397=)
11g.118476934T>ACA382824001KMT2Ac.3385T>A (p.Leu1129Ile)
c.868T>A (p.Leu290Ile)
c.769T>A (p.Leu257Ile)
c.1093T>A (p.Leu365Ile)
c.267T>A
c.3286T>A (p.Leu1096Ile)
c.538T>A (p.Leu180Ile)
c.2056T>A (p.Leu686Ile)
c.520T>A (p.Leu174Ile)
c.1192T>A (p.Leu398Ile)
11g.118476934T>CCA477088070KMT2Ac.3385T>C (p.Leu1129=)
c.868T>C (p.Leu290=)
c.769T>C (p.Leu257=)
c.1093T>C (p.Leu365=)
c.267T>C
c.3286T>C (p.Leu1096=)
c.538T>C (p.Leu180=)
c.2056T>C (p.Leu686=)
c.520T>C (p.Leu174=)
c.1192T>C (p.Leu398=)
11g.118476934T>GCA382824002KMT2Ac.3385T>G (p.Leu1129Val)
c.868T>G (p.Leu290Val)
c.769T>G (p.Leu257Val)
c.1093T>G (p.Leu365Val)
c.267T>G
c.3286T>G (p.Leu1096Val)
c.538T>G (p.Leu180Val)
c.2056T>G (p.Leu686Val)
c.520T>G (p.Leu174Val)
c.1192T>G (p.Leu398Val)
11g.118476935T>ACA382824003KMT2Ac.3386T>A (p.Leu1129Ter)
c.869T>A (p.Leu290Ter)
c.770T>A (p.Leu257Ter)
c.1094T>A (p.Leu365Ter)
c.268T>A
c.3287T>A (p.Leu1096Ter)
c.539T>A (p.Leu180Ter)
c.2057T>A (p.Leu686Ter)
c.521T>A (p.Leu174Ter)
c.1193T>A (p.Leu398Ter)
11g.118476935T>CCA382824004KMT2Ac.3386T>C (p.Leu1129Ser)
c.869T>C (p.Leu290Ser)
c.770T>C (p.Leu257Ser)
c.1094T>C (p.Leu365Ser)
c.268T>C
c.3287T>C (p.Leu1096Ser)
c.539T>C (p.Leu180Ser)
c.2057T>C (p.Leu686Ser)
c.521T>C (p.Leu174Ser)
c.1193T>C (p.Leu398Ser)
11g.118476935T>GCA382824005KMT2Ac.3386T>G (p.Leu1129Ter)
c.869T>G (p.Leu290Ter)
c.770T>G (p.Leu257Ter)
c.1094T>G (p.Leu365Ter)
c.268T>G
c.3287T>G (p.Leu1096Ter)
c.539T>G (p.Leu180Ter)
c.2057T>G (p.Leu686Ter)
c.521T>G (p.Leu174Ter)
c.1193T>G (p.Leu398Ter)
11g.118476936A>CCA382824006KMT2Ac.3387A>C (p.Leu1129Phe)
c.870A>C (p.Leu290Phe)
c.771A>C (p.Leu257Phe)
c.1095A>C (p.Leu365Phe)
c.269A>C
c.3288A>C (p.Leu1096Phe)
c.540A>C (p.Leu180Phe)
c.2058A>C (p.Leu686Phe)
c.522A>C (p.Leu174Phe)
c.1194A>C (p.Leu398Phe)
11g.118476936A>GCA477088074KMT2Ac.3387A>G (p.Leu1129=)
c.870A>G (p.Leu290=)
c.771A>G (p.Leu257=)
c.1095A>G (p.Leu365=)
c.269A>G
c.3288A>G (p.Leu1096=)
c.540A>G (p.Leu180=)
c.2058A>G (p.Leu686=)
c.522A>G (p.Leu174=)
c.1194A>G (p.Leu398=)
11g.118476936A>TCA382824007KMT2Ac.3387A>T (p.Leu1129Phe)
c.870A>T (p.Leu290Phe)
c.771A>T (p.Leu257Phe)
c.1095A>T (p.Leu365Phe)
c.269A>T
c.3288A>T (p.Leu1096Phe)
c.540A>T (p.Leu180Phe)
c.2058A>T (p.Leu686Phe)
c.522A>T (p.Leu174Phe)
c.1194A>T (p.Leu398Phe)
11g.118476937C>ACA382824008KMT2Ac.3388C>A (p.Pro1130Thr)
c.871C>A (p.Pro291Thr)
c.772C>A (p.Pro258Thr)
c.1096C>A (p.Pro366Thr)
c.270C>A
c.3289C>A (p.Pro1097Thr)
c.541C>A (p.Pro181Thr)
c.2059C>A (p.Pro687Thr)
c.523C>A (p.Pro175Thr)
c.1195C>A (p.Pro399Thr)
11g.118476937C>GCA382824009KMT2Ac.3388C>G (p.Pro1130Ala)
c.871C>G (p.Pro291Ala)
c.772C>G (p.Pro258Ala)
c.1096C>G (p.Pro366Ala)
c.270C>G
c.3289C>G (p.Pro1097Ala)
c.541C>G (p.Pro181Ala)
c.2059C>G (p.Pro687Ala)
c.523C>G (p.Pro175Ala)
c.1195C>G (p.Pro399Ala)
11g.118476937C>TCA382824010KMT2Ac.3388C>T (p.Pro1130Ser)
c.871C>T (p.Pro291Ser)
c.772C>T (p.Pro258Ser)
c.1096C>T (p.Pro366Ser)
c.270C>T
c.3289C>T (p.Pro1097Ser)
c.541C>T (p.Pro181Ser)
c.2059C>T (p.Pro687Ser)
c.523C>T (p.Pro175Ser)
c.1195C>T (p.Pro399Ser)
11g.118476938C>ACA382824012KMT2Ac.3389C>A (p.Pro1130Gln)
c.872C>A (p.Pro291Gln)
c.773C>A (p.Pro258Gln)
c.1097C>A (p.Pro366Gln)
c.271C>A
c.3290C>A (p.Pro1097Gln)
c.542C>A (p.Pro181Gln)
c.2060C>A (p.Pro687Gln)
c.524C>A (p.Pro175Gln)
c.1196C>A (p.Pro399Gln)
dbSNP
11g.118476938C>GCA382824014KMT2Ac.3389C>G (p.Pro1130Arg)
c.872C>G (p.Pro291Arg)
c.773C>G (p.Pro258Arg)
c.1097C>G (p.Pro366Arg)
c.271C>G
c.3290C>G (p.Pro1097Arg)
c.542C>G (p.Pro181Arg)
c.2060C>G (p.Pro687Arg)
c.524C>G (p.Pro175Arg)
c.1196C>G (p.Pro399Arg)
11g.118476938C>TCA382824015KMT2Ac.3389C>T (p.Pro1130Leu)
c.872C>T (p.Pro291Leu)
c.773C>T (p.Pro258Leu)
c.1097C>T (p.Pro366Leu)
c.271C>T
c.3290C>T (p.Pro1097Leu)
c.542C>T (p.Pro181Leu)
c.2060C>T (p.Pro687Leu)
c.524C>T (p.Pro175Leu)
c.1196C>T (p.Pro399Leu)
dbSNP
11g.118476939A=CA2003521080KMT2Ac.3390A= (p.Pro1130=)
c.873A= (p.Pro291=)
c.774A= (p.Pro258=)
c.1098A= (p.Pro366=)
c.272A=
c.3291A= (p.Pro1097=)
c.543A= (p.Pro181=)
c.2061A= (p.Pro687=)
c.525A= (p.Pro175=)
c.1197A= (p.Pro399=)
11g.118476939A>CCA477088079KMT2Ac.3390A>C (p.Pro1130=)
c.873A>C (p.Pro291=)
c.774A>C (p.Pro258=)
c.1098A>C (p.Pro366=)
c.272A>C
c.3291A>C (p.Pro1097=)
c.543A>C (p.Pro181=)
c.2061A>C (p.Pro687=)
c.525A>C (p.Pro175=)
c.1197A>C (p.Pro399=)
11g.118476939A>GCA6303641KMT2Ac.3390A>G (p.Pro1130=)
c.873A>G (p.Pro291=)
c.774A>G (p.Pro258=)
c.1098A>G (p.Pro366=)
c.272A>G
c.3291A>G (p.Pro1097=)
c.543A>G (p.Pro181=)
c.2061A>G (p.Pro687=)
c.525A>G (p.Pro175=)
c.1197A>G (p.Pro399=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118476939A>TCA477088080KMT2Ac.3390A>T (p.Pro1130=)
c.873A>T (p.Pro291=)
c.774A>T (p.Pro258=)
c.1098A>T (p.Pro366=)
c.272A>T
c.3291A>T (p.Pro1097=)
c.543A>T (p.Pro181=)
c.2061A>T (p.Pro687=)
c.525A>T (p.Pro175=)
c.1197A>T (p.Pro399=)
11g.118476940T>ACA382824020KMT2Ac.3391T>A (p.Trp1131Arg)
c.874T>A (p.Trp292Arg)
c.775T>A (p.Trp259Arg)
c.1099T>A (p.Trp367Arg)
c.273T>A
c.3292T>A (p.Trp1098Arg)
c.544T>A (p.Trp182Arg)
c.2062T>A (p.Trp688Arg)
c.526T>A (p.Trp176Arg)
c.1198T>A (p.Trp400Arg)
11g.118476940T>CCA382824018KMT2Ac.3391T>C (p.Trp1131Arg)
c.874T>C (p.Trp292Arg)
c.775T>C (p.Trp259Arg)
c.1099T>C (p.Trp367Arg)
c.273T>C
c.3292T>C (p.Trp1098Arg)
c.544T>C (p.Trp182Arg)
c.2062T>C (p.Trp688Arg)
c.526T>C (p.Trp176Arg)
c.1198T>C (p.Trp400Arg)
11g.118476940T>GCA382824017KMT2Ac.3391T>G (p.Trp1131Gly)
c.874T>G (p.Trp292Gly)
c.775T>G (p.Trp259Gly)
c.1099T>G (p.Trp367Gly)
c.273T>G
c.3292T>G (p.Trp1098Gly)
c.544T>G (p.Trp182Gly)
c.2062T>G (p.Trp688Gly)
c.526T>G (p.Trp176Gly)
c.1198T>G (p.Trp400Gly)
11g.118476941G>ACA382824022KMT2Ac.3392G>A (p.Trp1131Ter)
c.875G>A (p.Trp292Ter)
c.776G>A (p.Trp259Ter)
c.1100G>A (p.Trp367Ter)
c.274G>A
c.3293G>A (p.Trp1098Ter)
c.545G>A (p.Trp182Ter)
c.2063G>A (p.Trp688Ter)
c.527G>A (p.Trp176Ter)
c.1199G>A (p.Trp400Ter)
11g.118476941G>CCA382824024KMT2Ac.3392G>C (p.Trp1131Ser)
c.875G>C (p.Trp292Ser)
c.776G>C (p.Trp259Ser)
c.1100G>C (p.Trp367Ser)
c.274G>C
c.3293G>C (p.Trp1098Ser)
c.545G>C (p.Trp182Ser)
c.2063G>C (p.Trp688Ser)
c.527G>C (p.Trp176Ser)
c.1199G>C (p.Trp400Ser)
11g.118476941G>TCA382824026KMT2Ac.3392G>T (p.Trp1131Leu)
c.875G>T (p.Trp292Leu)
c.776G>T (p.Trp259Leu)
c.1100G>T (p.Trp367Leu)
c.274G>T
c.3293G>T (p.Trp1098Leu)
c.545G>T (p.Trp182Leu)
c.2063G>T (p.Trp688Leu)
c.527G>T (p.Trp176Leu)
c.1199G>T (p.Trp400Leu)
11g.118476942G>ACA382824028KMT2Ac.3393G>A (p.Trp1131Ter)
c.876G>A (p.Trp292Ter)
c.777G>A (p.Trp259Ter)
c.1101G>A (p.Trp367Ter)
c.275G>A
c.3294G>A (p.Trp1098Ter)
c.546G>A (p.Trp182Ter)
c.2064G>A (p.Trp688Ter)
c.528G>A (p.Trp176Ter)
c.1200G>A (p.Trp400Ter)
11g.118476942G>CCA382824030KMT2Ac.3393G>C (p.Trp1131Cys)
c.876G>C (p.Trp292Cys)
c.777G>C (p.Trp259Cys)
c.1101G>C (p.Trp367Cys)
c.275G>C
c.3294G>C (p.Trp1098Cys)
c.546G>C (p.Trp182Cys)
c.2064G>C (p.Trp688Cys)
c.528G>C (p.Trp176Cys)
c.1200G>C (p.Trp400Cys)
11g.118476942G>TCA382824031KMT2Ac.3393G>T (p.Trp1131Cys)
c.876G>T (p.Trp292Cys)
c.777G>T (p.Trp259Cys)
c.1101G>T (p.Trp367Cys)
c.275G>T
c.3294G>T (p.Trp1098Cys)
c.546G>T (p.Trp182Cys)
c.2064G>T (p.Trp688Cys)
c.528G>T (p.Trp176Cys)
c.1200G>T (p.Trp400Cys)
11g.118476943G>ACA382824034KMT2Ac.3394G>A (p.Glu1132Lys)
c.877G>A (p.Glu293Lys)
c.778G>A (p.Glu260Lys)
c.1102G>A (p.Glu368Lys)
c.276G>A
c.3295G>A (p.Glu1099Lys)
c.547G>A (p.Glu183Lys)
c.2065G>A (p.Glu689Lys)
c.529G>A (p.Glu177Lys)
c.1201G>A (p.Glu401Lys)
ClinVar dbSNP
11g.118476943G>CCA382824036KMT2Ac.3394G>C (p.Glu1132Gln)
c.877G>C (p.Glu293Gln)
c.778G>C (p.Glu260Gln)
c.1102G>C (p.Glu368Gln)
c.276G>C
c.3295G>C (p.Glu1099Gln)
c.547G>C (p.Glu183Gln)
c.2065G>C (p.Glu689Gln)
c.529G>C (p.Glu177Gln)
c.1201G>C (p.Glu401Gln)
ClinVar dbSNP
11g.118476943G>TCA382824037KMT2Ac.3394G>T (p.Glu1132Ter)
c.877G>T (p.Glu293Ter)
c.778G>T (p.Glu260Ter)
c.1102G>T (p.Glu368Ter)
c.276G>T
c.3295G>T (p.Glu1099Ter)
c.547G>T (p.Glu183Ter)
c.2065G>T (p.Glu689Ter)
c.529G>T (p.Glu177Ter)
c.1201G>T (p.Glu401Ter)
11g.118476944A>CCA382824039KMT2Ac.3395A>C (p.Glu1132Ala)
c.878A>C (p.Glu293Ala)
c.779A>C (p.Glu260Ala)
c.1103A>C (p.Glu368Ala)
c.277A>C
c.3296A>C (p.Glu1099Ala)
c.548A>C (p.Glu183Ala)
c.2066A>C (p.Glu689Ala)
c.530A>C (p.Glu177Ala)
c.1202A>C (p.Glu401Ala)
11g.118476944A>GCA382824040KMT2Ac.3395A>G (p.Glu1132Gly)
c.878A>G (p.Glu293Gly)
c.779A>G (p.Glu260Gly)
c.1103A>G (p.Glu368Gly)
c.277A>G
c.3296A>G (p.Glu1099Gly)
c.548A>G (p.Glu183Gly)
c.2066A>G (p.Glu689Gly)
c.530A>G (p.Glu177Gly)
c.1202A>G (p.Glu401Gly)
11g.118476944A>TCA382824042KMT2Ac.3395A>T (p.Glu1132Val)
c.878A>T (p.Glu293Val)
c.779A>T (p.Glu260Val)
c.1103A>T (p.Glu368Val)
c.277A>T
c.3296A>T (p.Glu1099Val)
c.548A>T (p.Glu183Val)
c.2066A>T (p.Glu689Val)
c.530A>T (p.Glu177Val)
c.1202A>T (p.Glu401Val)
11g.118476945A>CCA382824043KMT2Ac.3396A>C (p.Glu1132Asp)
c.879A>C (p.Glu293Asp)
c.780A>C (p.Glu260Asp)
c.1104A>C (p.Glu368Asp)
c.278A>C
c.3297A>C (p.Glu1099Asp)
c.549A>C (p.Glu183Asp)
c.2067A>C (p.Glu689Asp)
c.531A>C (p.Glu177Asp)
c.1203A>C (p.Glu401Asp)
11g.118476945A>GCA477088085KMT2Ac.3396A>G (p.Glu1132=)
c.879A>G (p.Glu293=)
c.780A>G (p.Glu260=)
c.1104A>G (p.Glu368=)
c.278A>G
c.3297A>G (p.Glu1099=)
c.549A>G (p.Glu183=)
c.2067A>G (p.Glu689=)
c.531A>G (p.Glu177=)
c.1203A>G (p.Glu401=)
11g.118476945A>TCA382824045KMT2Ac.3396A>T (p.Glu1132Asp)
c.879A>T (p.Glu293Asp)
c.780A>T (p.Glu260Asp)
c.1104A>T (p.Glu368Asp)
c.278A>T
c.3297A>T (p.Glu1099Asp)
c.549A>T (p.Glu183Asp)
c.2067A>T (p.Glu689Asp)
c.531A>T (p.Glu177Asp)
c.1203A>T (p.Glu401Asp)
11g.118476946G>ACA382824049KMT2Ac.3397G>A (p.Glu1133Lys)
c.880G>A (p.Glu294Lys)
c.781G>A (p.Glu261Lys)
c.1105G>A (p.Glu369Lys)
c.279G>A
c.3298G>A (p.Glu1100Lys)
c.550G>A (p.Glu184Lys)
c.2068G>A (p.Glu690Lys)
c.532G>A (p.Glu178Lys)
c.1204G>A (p.Glu402Lys)
11g.118476946G>CCA382824051KMT2Ac.3397G>C (p.Glu1133Gln)
c.880G>C (p.Glu294Gln)
c.781G>C (p.Glu261Gln)
c.1105G>C (p.Glu369Gln)
c.279G>C
c.3298G>C (p.Glu1100Gln)
c.550G>C (p.Glu184Gln)
c.2068G>C (p.Glu690Gln)
c.532G>C (p.Glu178Gln)
c.1204G>C (p.Glu402Gln)
11g.118476946G>TCA382824047KMT2Ac.3397G>T (p.Glu1133Ter)
c.880G>T (p.Glu294Ter)
c.781G>T (p.Glu261Ter)
c.1105G>T (p.Glu369Ter)
c.279G>T
c.3298G>T (p.Glu1100Ter)
c.550G>T (p.Glu184Ter)
c.2068G>T (p.Glu690Ter)
c.532G>T (p.Glu178Ter)
c.1204G>T (p.Glu402Ter)
11g.118476947A>CCA382824053KMT2Ac.3398A>C (p.Glu1133Ala)
c.881A>C (p.Glu294Ala)
c.782A>C (p.Glu261Ala)
c.1106A>C (p.Glu369Ala)
c.280A>C
c.3299A>C (p.Glu1100Ala)
c.551A>C (p.Glu184Ala)
c.2069A>C (p.Glu690Ala)
c.533A>C (p.Glu178Ala)
c.1205A>C (p.Glu402Ala)
11g.118476947A>GCA382824056KMT2Ac.3398A>G (p.Glu1133Gly)
c.881A>G (p.Glu294Gly)
c.782A>G (p.Glu261Gly)
c.1106A>G (p.Glu369Gly)
c.280A>G
c.3299A>G (p.Glu1100Gly)
c.551A>G (p.Glu184Gly)
c.2069A>G (p.Glu690Gly)
c.533A>G (p.Glu178Gly)
c.1205A>G (p.Glu402Gly)
11g.118476947A>TCA382824055KMT2Ac.3398A>T (p.Glu1133Val)
c.881A>T (p.Glu294Val)
c.782A>T (p.Glu261Val)
c.1106A>T (p.Glu369Val)
c.280A>T
c.3299A>T (p.Glu1100Val)
c.551A>T (p.Glu184Val)
c.2069A>T (p.Glu690Val)
c.533A>T (p.Glu178Val)
c.1205A>T (p.Glu402Val)
11g.118476948A>CCA382824058KMT2Ac.3399A>C (p.Glu1133Asp)
c.882A>C (p.Glu294Asp)
c.783A>C (p.Glu261Asp)
c.1107A>C (p.Glu369Asp)
c.281A>C
c.3300A>C (p.Glu1100Asp)
c.552A>C (p.Glu184Asp)
c.2070A>C (p.Glu690Asp)
c.534A>C (p.Glu178Asp)
c.1206A>C (p.Glu402Asp)
11g.118476948A>GCA477088088KMT2Ac.3399A>G (p.Glu1133=)
c.882A>G (p.Glu294=)
c.783A>G (p.Glu261=)
c.1107A>G (p.Glu369=)
c.281A>G
c.3300A>G (p.Glu1100=)
c.552A>G (p.Glu184=)
c.2070A>G (p.Glu690=)
c.534A>G (p.Glu178=)
c.1206A>G (p.Glu402=)
11g.118476948A>TCA382824060KMT2Ac.3399A>T (p.Glu1133Asp)
c.882A>T (p.Glu294Asp)
c.783A>T (p.Glu261Asp)
c.1107A>T (p.Glu369Asp)
c.281A>T
c.3300A>T (p.Glu1100Asp)
c.552A>T (p.Glu184Asp)
c.2070A>T (p.Glu690Asp)
c.534A>T (p.Glu178Asp)
c.1206A>T (p.Glu402Asp)
11g.118476949C>ACA477088089KMT2Ac.3400C>A (p.Arg1134=)
c.883C>A (p.Arg295=)
c.784C>A (p.Arg262=)
c.1108C>A (p.Arg370=)
c.282C>A
c.3301C>A (p.Arg1101=)
c.553C>A (p.Arg185=)
c.2071C>A (p.Arg691=)
c.535C>A (p.Arg179=)
c.1207C>A (p.Arg403=)
ClinVar dbSNP
11g.118476949C=CA2003521095KMT2Ac.3400C= (p.Arg1134=)
c.883C= (p.Arg295=)
c.784C= (p.Arg262=)
c.1108C= (p.Arg370=)
c.282C=
c.3301C= (p.Arg1101=)
c.553C= (p.Arg185=)
c.2071C= (p.Arg691=)
c.535C= (p.Arg179=)
c.1207C= (p.Arg403=)
11g.118476949C>GCA382824062KMT2Ac.3400C>G (p.Arg1134Gly)
c.883C>G (p.Arg295Gly)
c.784C>G (p.Arg262Gly)
c.1108C>G (p.Arg370Gly)
c.282C>G
c.3301C>G (p.Arg1101Gly)
c.553C>G (p.Arg185Gly)
c.2071C>G (p.Arg691Gly)
c.535C>G (p.Arg179Gly)
c.1207C>G (p.Arg403Gly)
11g.118476949C>TCA10603235KMT2Ac.3400C>T (p.Arg1134Ter)
c.883C>T (p.Arg295Ter)
c.784C>T (p.Arg262Ter)
c.1108C>T (p.Arg370Ter)
c.282C>T
c.3301C>T (p.Arg1101Ter)
c.553C>T (p.Arg185Ter)
c.2071C>T (p.Arg691Ter)
c.535C>T (p.Arg179Ter)
c.1207C>T (p.Arg403Ter)
ClinVar dbSNP
11g.118476950G>ACA382824065KMT2Ac.3401G>A (p.Arg1134Gln)
c.884G>A (p.Arg295Gln)
c.785G>A (p.Arg262Gln)
c.1109G>A (p.Arg370Gln)
c.283G>A
c.3302G>A (p.Arg1101Gln)
c.554G>A (p.Arg185Gln)
c.2072G>A (p.Arg691Gln)
c.536G>A (p.Arg179Gln)
c.1208G>A (p.Arg403Gln)
dbSNP
11g.118476950G>CCA382824067KMT2Ac.3401G>C (p.Arg1134Pro)
c.884G>C (p.Arg295Pro)
c.785G>C (p.Arg262Pro)
c.1109G>C (p.Arg370Pro)
c.283G>C
c.3302G>C (p.Arg1101Pro)
c.554G>C (p.Arg185Pro)
c.2072G>C (p.Arg691Pro)
c.536G>C (p.Arg179Pro)
c.1208G>C (p.Arg403Pro)
11g.118476950G>TCA382824068KMT2Ac.3401G>T (p.Arg1134Leu)
c.884G>T (p.Arg295Leu)
c.785G>T (p.Arg262Leu)
c.1109G>T (p.Arg370Leu)
c.283G>T
c.3302G>T (p.Arg1101Leu)
c.554G>T (p.Arg185Leu)
c.2072G>T (p.Arg691Leu)
c.536G>T (p.Arg179Leu)
c.1208G>T (p.Arg403Leu)
11g.118476951A>CCA477088093KMT2Ac.3402A>C (p.Arg1134=)
c.885A>C (p.Arg295=)
c.786A>C (p.Arg262=)
c.1110A>C (p.Arg370=)
c.284A>C
c.3303A>C (p.Arg1101=)
c.555A>C (p.Arg185=)
c.2073A>C (p.Arg691=)
c.537A>C (p.Arg179=)
c.1209A>C (p.Arg403=)
gnomAD v4
11g.118476951A>GCA477088094KMT2Ac.3402A>G (p.Arg1134=)
c.885A>G (p.Arg295=)
c.786A>G (p.Arg262=)
c.1110A>G (p.Arg370=)
c.284A>G
c.3303A>G (p.Arg1101=)
c.555A>G (p.Arg185=)
c.2073A>G (p.Arg691=)
c.537A>G (p.Arg179=)
c.1209A>G (p.Arg403=)
11g.118476951A>TCA477088095KMT2Ac.3402A>T (p.Arg1134=)
c.885A>T (p.Arg295=)
c.786A>T (p.Arg262=)
c.1110A>T (p.Arg370=)
c.284A>T
c.3303A>T (p.Arg1101=)
c.555A>T (p.Arg185=)
c.2073A>T (p.Arg691=)
c.537A>T (p.Arg179=)
c.1209A>T (p.Arg403=)
11g.118476952G>ACA382824070KMT2Ac.3403G>A (p.Glu1135Lys)
c.886G>A (p.Glu296Lys)
c.787G>A (p.Glu263Lys)
c.1111G>A (p.Glu371Lys)
c.285G>A
c.3304G>A (p.Glu1102Lys)
c.556G>A (p.Glu186Lys)
c.2074G>A (p.Glu692Lys)
c.538G>A (p.Glu180Lys)
c.1210G>A (p.Glu404Lys)
11g.118476952G>CCA382824072KMT2Ac.3403G>C (p.Glu1135Gln)
c.886G>C (p.Glu296Gln)
c.787G>C (p.Glu263Gln)
c.1111G>C (p.Glu371Gln)
c.285G>C
c.3304G>C (p.Glu1102Gln)
c.556G>C (p.Glu186Gln)
c.2074G>C (p.Glu692Gln)
c.538G>C (p.Glu180Gln)
c.1210G>C (p.Glu404Gln)
11g.118476952G>TCA382824073KMT2Ac.3403G>T (p.Glu1135Ter)
c.886G>T (p.Glu296Ter)
c.787G>T (p.Glu263Ter)
c.1111G>T (p.Glu371Ter)
c.285G>T
c.3304G>T (p.Glu1102Ter)
c.556G>T (p.Glu186Ter)
c.2074G>T (p.Glu692Ter)
c.538G>T (p.Glu180Ter)
c.1210G>T (p.Glu404Ter)
11g.118476953A=CA2003521101KMT2Ac.3404A= (p.Glu1135=)
c.887A= (p.Glu296=)
c.788A= (p.Glu263=)
c.1112A= (p.Glu371=)
c.286A=
c.3305A= (p.Glu1102=)
c.557A= (p.Glu186=)
c.2075A= (p.Glu692=)
c.539A= (p.Glu180=)
c.1211A= (p.Glu404=)
11g.118476953A>CCA382824076KMT2Ac.3404A>C (p.Glu1135Ala)
c.887A>C (p.Glu296Ala)
c.788A>C (p.Glu263Ala)
c.1112A>C (p.Glu371Ala)
c.286A>C
c.3305A>C (p.Glu1102Ala)
c.557A>C (p.Glu186Ala)
c.2075A>C (p.Glu692Ala)
c.539A>C (p.Glu180Ala)
c.1211A>C (p.Glu404Ala)
11g.118476953A>GCA382824078KMT2Ac.3404A>G (p.Glu1135Gly)
c.887A>G (p.Glu296Gly)
c.788A>G (p.Glu263Gly)
c.1112A>G (p.Glu371Gly)
c.286A>G
c.3305A>G (p.Glu1102Gly)
c.557A>G (p.Glu186Gly)
c.2075A>G (p.Glu692Gly)
c.539A>G (p.Glu180Gly)
c.1211A>G (p.Glu404Gly)
dbSNP
11g.118476953A>TCA382824079KMT2Ac.3404A>T (p.Glu1135Val)
c.887A>T (p.Glu296Val)
c.788A>T (p.Glu263Val)
c.1112A>T (p.Glu371Val)
c.286A>T
c.3305A>T (p.Glu1102Val)
c.557A>T (p.Glu186Val)
c.2075A>T (p.Glu692Val)
c.539A>T (p.Glu180Val)
c.1211A>T (p.Glu404Val)
11g.118476954A>CCA382824082KMT2Ac.3405A>C (p.Glu1135Asp)
c.888A>C (p.Glu296Asp)
c.789A>C (p.Glu263Asp)
c.1113A>C (p.Glu371Asp)
c.287A>C
c.3306A>C (p.Glu1102Asp)
c.558A>C (p.Glu186Asp)
c.2076A>C (p.Glu692Asp)
c.540A>C (p.Glu180Asp)
c.1212A>C (p.Glu404Asp)
11g.118476954A>GCA477088096KMT2Ac.3405A>G (p.Glu1135=)
c.888A>G (p.Glu296=)
c.789A>G (p.Glu263=)
c.1113A>G (p.Glu371=)
c.287A>G
c.3306A>G (p.Glu1102=)
c.558A>G (p.Glu186=)
c.2076A>G (p.Glu692=)
c.540A>G (p.Glu180=)
c.1212A>G (p.Glu404=)
gnomAD v4
11g.118476954A>TCA382824083KMT2Ac.3405A>T (p.Glu1135Asp)
c.888A>T (p.Glu296Asp)
c.789A>T (p.Glu263Asp)
c.1113A>T (p.Glu371Asp)
c.287A>T
c.3306A>T (p.Glu1102Asp)
c.558A>T (p.Glu186Asp)
c.2076A>T (p.Glu692Asp)
c.540A>T (p.Glu180Asp)
c.1212A>T (p.Glu404Asp)
11g.118476955A>CCA382824088KMT2Ac.3406A>C (p.Lys1136Gln)
c.889A>C (p.Lys297Gln)
c.790A>C (p.Lys264Gln)
c.1114A>C (p.Lys372Gln)
c.288A>C
c.3307A>C (p.Lys1103Gln)
c.559A>C (p.Lys187Gln)
c.2077A>C (p.Lys693Gln)
c.541A>C (p.Lys181Gln)
c.1213A>C (p.Lys405Gln)
11g.118476955A>GCA382824086KMT2Ac.3406A>G (p.Lys1136Glu)
c.889A>G (p.Lys297Glu)
c.790A>G (p.Lys264Glu)
c.1114A>G (p.Lys372Glu)
c.288A>G
c.3307A>G (p.Lys1103Glu)
c.559A>G (p.Lys187Glu)
c.2077A>G (p.Lys693Glu)
c.541A>G (p.Lys181Glu)
c.1213A>G (p.Lys405Glu)
11g.118476955A>TCA382824084KMT2Ac.3406A>T (p.Lys1136Ter)
c.889A>T (p.Lys297Ter)
c.790A>T (p.Lys264Ter)
c.1114A>T (p.Lys372Ter)
c.288A>T
c.3307A>T (p.Lys1103Ter)
c.559A>T (p.Lys187Ter)
c.2077A>T (p.Lys693Ter)
c.541A>T (p.Lys181Ter)
c.1213A>T (p.Lys405Ter)
11g.118476956A>CCA382824090KMT2Ac.3407A>C (p.Lys1136Thr)
c.890A>C (p.Lys297Thr)
c.791A>C (p.Lys264Thr)
c.1115A>C (p.Lys372Thr)
c.289A>C
c.3308A>C (p.Lys1103Thr)
c.560A>C (p.Lys187Thr)
c.2078A>C (p.Lys693Thr)
c.542A>C (p.Lys181Thr)
c.1214A>C (p.Lys405Thr)
11g.118476956A>GCA382824092KMT2Ac.3407A>G (p.Lys1136Arg)
c.890A>G (p.Lys297Arg)
c.791A>G (p.Lys264Arg)
c.1115A>G (p.Lys372Arg)
c.289A>G
c.3308A>G (p.Lys1103Arg)
c.560A>G (p.Lys187Arg)
c.2078A>G (p.Lys693Arg)
c.542A>G (p.Lys181Arg)
c.1214A>G (p.Lys405Arg)
11g.118476956A>TCA382824094KMT2Ac.3407A>T (p.Lys1136Met)
c.890A>T (p.Lys297Met)
c.791A>T (p.Lys264Met)
c.1115A>T (p.Lys372Met)
c.289A>T
c.3308A>T (p.Lys1103Met)
c.560A>T (p.Lys187Met)
c.2078A>T (p.Lys693Met)
c.542A>T (p.Lys181Met)
c.1214A>T (p.Lys405Met)
11g.118476957G>ACA477088097KMT2Ac.3408G>A (p.Lys1136=)
c.891G>A (p.Lys297=)
c.792G>A (p.Lys264=)
c.1116G>A (p.Lys372=)
c.290G>A
c.3309G>A (p.Lys1103=)
c.561G>A (p.Lys187=)
c.2079G>A (p.Lys693=)
c.543G>A (p.Lys181=)
c.1215G>A (p.Lys405=)
11g.118476957G>CCA382824096KMT2Ac.3408G>C (p.Lys1136Asn)
c.891G>C (p.Lys297Asn)
c.792G>C (p.Lys264Asn)
c.1116G>C (p.Lys372Asn)
c.290G>C
c.3309G>C (p.Lys1103Asn)
c.561G>C (p.Lys187Asn)
c.2079G>C (p.Lys693Asn)
c.543G>C (p.Lys181Asn)
c.1215G>C (p.Lys405Asn)
11g.118476957G=CA2003521107KMT2Ac.3408G= (p.Lys1136=)
c.891G= (p.Lys297=)
c.792G= (p.Lys264=)
c.1116G= (p.Lys372=)
c.290G=
c.3309G= (p.Lys1103=)
c.561G= (p.Lys187=)
c.2079G= (p.Lys693=)
c.543G= (p.Lys181=)
c.1215G= (p.Lys405=)
11g.118476957G>TCA382824097KMT2Ac.3408G>T (p.Lys1136Asn)
c.891G>T (p.Lys297Asn)
c.792G>T (p.Lys264Asn)
c.1116G>T (p.Lys372Asn)
c.290G>T
c.3309G>T (p.Lys1103Asn)
c.561G>T (p.Lys187Asn)
c.2079G>T (p.Lys693Asn)
c.543G>T (p.Lys181Asn)
c.1215G>T (p.Lys405Asn)
dbSNP COSMIC COSMIC
11g.118476958A>CCA382824100KMT2Ac.3409A>C (p.Ile1137Leu)
c.892A>C (p.Ile298Leu)
c.793A>C (p.Ile265Leu)
c.1117A>C (p.Ile373Leu)
c.291A>C
c.3310A>C (p.Ile1104Leu)
c.562A>C (p.Ile188Leu)
c.2080A>C (p.Ile694Leu)
c.544A>C (p.Ile182Leu)
c.1216A>C (p.Ile406Leu)
11g.118476958A>GCA382824101KMT2Ac.3409A>G (p.Ile1137Val)
c.892A>G (p.Ile298Val)
c.793A>G (p.Ile265Val)
c.1117A>G (p.Ile373Val)
c.291A>G
c.3310A>G (p.Ile1104Val)
c.562A>G (p.Ile188Val)
c.2080A>G (p.Ile694Val)
c.544A>G (p.Ile182Val)
c.1216A>G (p.Ile406Val)
COSMIC COSMIC
11g.118476958A>TCA382824103KMT2Ac.3409A>T (p.Ile1137Phe)
c.892A>T (p.Ile298Phe)
c.793A>T (p.Ile265Phe)
c.1117A>T (p.Ile373Phe)
c.291A>T
c.3310A>T (p.Ile1104Phe)
c.562A>T (p.Ile188Phe)
c.2080A>T (p.Ile694Phe)
c.544A>T (p.Ile182Phe)
c.1216A>T (p.Ile406Phe)
11g.118476959T>ACA382824105KMT2Ac.3410T>A (p.Ile1137Asn)
c.893T>A (p.Ile298Asn)
c.794T>A (p.Ile265Asn)
c.1118T>A (p.Ile373Asn)
c.292T>A
c.3311T>A (p.Ile1104Asn)
c.563T>A (p.Ile188Asn)
c.2081T>A (p.Ile694Asn)
c.545T>A (p.Ile182Asn)
c.1217T>A (p.Ile406Asn)
11g.118476959T>CCA382824107KMT2Ac.3410T>C (p.Ile1137Thr)
c.893T>C (p.Ile298Thr)
c.794T>C (p.Ile265Thr)
c.1118T>C (p.Ile373Thr)
c.292T>C
c.3311T>C (p.Ile1104Thr)
c.563T>C (p.Ile188Thr)
c.2081T>C (p.Ile694Thr)
c.545T>C (p.Ile182Thr)
c.1217T>C (p.Ile406Thr)
11g.118476959T>GCA382824109KMT2Ac.3410T>G (p.Ile1137Ser)
c.893T>G (p.Ile298Ser)
c.794T>G (p.Ile265Ser)
c.1118T>G (p.Ile373Ser)
c.292T>G
c.3311T>G (p.Ile1104Ser)
c.563T>G (p.Ile188Ser)
c.2081T>G (p.Ile694Ser)
c.545T>G (p.Ile182Ser)
c.1217T>G (p.Ile406Ser)
11g.118476960T>ACA477088099KMT2Ac.3411T>A (p.Ile1137=)
c.894T>A (p.Ile298=)
c.795T>A (p.Ile265=)
c.1119T>A (p.Ile373=)
c.293T>A
c.3312T>A (p.Ile1104=)
c.564T>A (p.Ile188=)
c.2082T>A (p.Ile694=)
c.546T>A (p.Ile182=)
c.1218T>A (p.Ile406=)
11g.118476960T>CCA477088100KMT2Ac.3411T>C (p.Ile1137=)
c.894T>C (p.Ile298=)
c.795T>C (p.Ile265=)
c.1119T>C (p.Ile373=)
c.293T>C
c.3312T>C (p.Ile1104=)
c.564T>C (p.Ile188=)
c.2082T>C (p.Ile694=)
c.546T>C (p.Ile182=)
c.1218T>C (p.Ile406=)
11g.118476960T>GCA382824110KMT2Ac.3411T>G (p.Ile1137Met)
c.894T>G (p.Ile298Met)
c.795T>G (p.Ile265Met)
c.1119T>G (p.Ile373Met)
c.293T>G
c.3312T>G (p.Ile1104Met)
c.564T>G (p.Ile188Met)
c.2082T>G (p.Ile694Met)
c.546T>G (p.Ile182Met)
c.1218T>G (p.Ile406Met)
11g.118476961T>ACA382824114KMT2Ac.3412T>A (p.Leu1138Met)
c.895T>A (p.Leu299Met)
c.796T>A (p.Leu266Met)
c.1120T>A (p.Leu374Met)
c.294T>A
c.3313T>A (p.Leu1105Met)
c.565T>A (p.Leu189Met)
c.2083T>A (p.Leu695Met)
c.547T>A (p.Leu183Met)
c.1219T>A (p.Leu407Met)
11g.118476961T>CCA477088101KMT2Ac.3412T>C (p.Leu1138=)
c.895T>C (p.Leu299=)
c.796T>C (p.Leu266=)
c.1120T>C (p.Leu374=)
c.294T>C
c.3313T>C (p.Leu1105=)
c.565T>C (p.Leu189=)
c.2083T>C (p.Leu695=)
c.547T>C (p.Leu183=)
c.1219T>C (p.Leu407=)
gnomAD v4
11g.118476961T>GCA382824113KMT2Ac.3412T>G (p.Leu1138Val)
c.895T>G (p.Leu299Val)
c.796T>G (p.Leu266Val)
c.1120T>G (p.Leu374Val)
c.294T>G
c.3313T>G (p.Leu1105Val)
c.565T>G (p.Leu189Val)
c.2083T>G (p.Leu695Val)
c.547T>G (p.Leu183Val)
c.1219T>G (p.Leu407Val)
11g.118476962T>ACA382824117KMT2Ac.3413T>A (p.Leu1138Ter)
c.896T>A (p.Leu299Ter)
c.797T>A (p.Leu266Ter)
c.1121T>A (p.Leu374Ter)
c.295T>A
c.3314T>A (p.Leu1105Ter)
c.566T>A (p.Leu189Ter)
c.2084T>A (p.Leu695Ter)
c.548T>A (p.Leu183Ter)
c.1220T>A (p.Leu407Ter)
11g.118476962T>CCA382824118KMT2Ac.3413T>C (p.Leu1138Ser)
c.896T>C (p.Leu299Ser)
c.797T>C (p.Leu266Ser)
c.1121T>C (p.Leu374Ser)
c.295T>C
c.3314T>C (p.Leu1105Ser)
c.566T>C (p.Leu189Ser)
c.2084T>C (p.Leu695Ser)
c.548T>C (p.Leu183Ser)
c.1220T>C (p.Leu407Ser)
11g.118476962T>GCA382824120KMT2Ac.3413T>G (p.Leu1138Trp)
c.896T>G (p.Leu299Trp)
c.797T>G (p.Leu266Trp)
c.1121T>G (p.Leu374Trp)
c.295T>G
c.3314T>G (p.Leu1105Trp)
c.566T>G (p.Leu189Trp)
c.2084T>G (p.Leu695Trp)
c.548T>G (p.Leu183Trp)
c.1220T>G (p.Leu407Trp)
11g.118476963G>ACA477088102KMT2Ac.3414G>A (p.Leu1138=)
c.897G>A (p.Leu299=)
c.798G>A (p.Leu266=)
c.1122G>A (p.Leu374=)
c.296G>A
c.3315G>A (p.Leu1105=)
c.567G>A (p.Leu189=)
c.2085G>A (p.Leu695=)
c.549G>A (p.Leu183=)
c.1221G>A (p.Leu407=)
ClinVar gnomAD v4
11g.118476963G>CCA382824122KMT2Ac.3414G>C (p.Leu1138Phe)
c.897G>C (p.Leu299Phe)
c.798G>C (p.Leu266Phe)
c.1122G>C (p.Leu374Phe)
c.296G>C
c.3315G>C (p.Leu1105Phe)
c.567G>C (p.Leu189Phe)
c.2085G>C (p.Leu695Phe)
c.549G>C (p.Leu183Phe)
c.1221G>C (p.Leu407Phe)
11g.118476963G>TCA382824124KMT2Ac.3414G>T (p.Leu1138Phe)
c.897G>T (p.Leu299Phe)
c.798G>T (p.Leu266Phe)
c.1122G>T (p.Leu374Phe)
c.296G>T
c.3315G>T (p.Leu1105Phe)
c.567G>T (p.Leu189Phe)
c.2085G>T (p.Leu695Phe)
c.549G>T (p.Leu183Phe)
c.1221G>T (p.Leu407Phe)
11g.118476964T>ACA382824130KMT2Ac.3415T>A (p.Ser1139Thr)
c.898T>A (p.Ser300Thr)
c.799T>A (p.Ser267Thr)
c.1123T>A (p.Ser375Thr)
c.297T>A
c.3316T>A (p.Ser1106Thr)
c.568T>A (p.Ser190Thr)
c.2086T>A (p.Ser696Thr)
c.550T>A (p.Ser184Thr)
c.1222T>A (p.Ser408Thr)
11g.118476964T>CCA382824128KMT2Ac.3415T>C (p.Ser1139Pro)
c.898T>C (p.Ser300Pro)
c.799T>C (p.Ser267Pro)
c.1123T>C (p.Ser375Pro)
c.297T>C
c.3316T>C (p.Ser1106Pro)
c.568T>C (p.Ser190Pro)
c.2086T>C (p.Ser696Pro)
c.550T>C (p.Ser184Pro)
c.1222T>C (p.Ser408Pro)
11g.118476964T>GCA382824126KMT2Ac.3415T>G (p.Ser1139Ala)
c.898T>G (p.Ser300Ala)
c.799T>G (p.Ser267Ala)
c.1123T>G (p.Ser375Ala)
c.297T>G
c.3316T>G (p.Ser1106Ala)
c.568T>G (p.Ser190Ala)
c.2086T>G (p.Ser696Ala)
c.550T>G (p.Ser184Ala)
c.1222T>G (p.Ser408Ala)
ClinVar dbSNP
11g.118476965C>ACA382824132KMT2Ac.3416C>A (p.Ser1139Tyr)
c.899C>A (p.Ser300Tyr)
c.800C>A (p.Ser267Tyr)
c.1124C>A (p.Ser375Tyr)
c.298C>A
c.3317C>A (p.Ser1106Tyr)
c.569C>A (p.Ser190Tyr)
c.2087C>A (p.Ser696Tyr)
c.551C>A (p.Ser184Tyr)
c.1223C>A (p.Ser408Tyr)
11g.118476965C>GCA382824133KMT2Ac.3416C>G (p.Ser1139Cys)
c.899C>G (p.Ser300Cys)
c.800C>G (p.Ser267Cys)
c.1124C>G (p.Ser375Cys)
c.298C>G
c.3317C>G (p.Ser1106Cys)
c.569C>G (p.Ser190Cys)
c.2087C>G (p.Ser696Cys)
c.551C>G (p.Ser184Cys)
c.1223C>G (p.Ser408Cys)
dbSNP
11g.118476965C>TCA382824135KMT2Ac.3416C>T (p.Ser1139Phe)
c.899C>T (p.Ser300Phe)
c.800C>T (p.Ser267Phe)
c.1124C>T (p.Ser375Phe)
c.298C>T
c.3317C>T (p.Ser1106Phe)
c.569C>T (p.Ser190Phe)
c.2087C>T (p.Ser696Phe)
c.551C>T (p.Ser184Phe)
c.1223C>T (p.Ser408Phe)
11g.118476966T>ACA477088103KMT2Ac.3417T>A (p.Ser1139=)
c.900T>A (p.Ser300=)
c.801T>A (p.Ser267=)
c.1125T>A (p.Ser375=)
c.299T>A
c.3318T>A (p.Ser1106=)
c.570T>A (p.Ser190=)
c.2088T>A (p.Ser696=)
c.552T>A (p.Ser184=)
c.1224T>A (p.Ser408=)
11g.118476966T>CCA477088104KMT2Ac.3417T>C (p.Ser1139=)
c.900T>C (p.Ser300=)
c.801T>C (p.Ser267=)
c.1125T>C (p.Ser375=)
c.299T>C
c.3318T>C (p.Ser1106=)
c.570T>C (p.Ser190=)
c.2088T>C (p.Ser696=)
c.552T>C (p.Ser184=)
c.1224T>C (p.Ser408=)
dbSNP gnomAD v2
11g.118476966T>GCA477088105KMT2Ac.3417T>G (p.Ser1139=)
c.900T>G (p.Ser300=)
c.801T>G (p.Ser267=)
c.1125T>G (p.Ser375=)
c.299T>G
c.3318T>G (p.Ser1106=)
c.570T>G (p.Ser190=)
c.2088T>G (p.Ser696=)
c.552T>G (p.Ser184=)
c.1224T>G (p.Ser408=)
11g.118476966T=CA2003521112KMT2Ac.3417T= (p.Ser1139=)
c.900T= (p.Ser300=)
c.801T= (p.Ser267=)
c.1125T= (p.Ser375=)
c.299T=
c.3318T= (p.Ser1106=)
c.570T= (p.Ser190=)
c.2088T= (p.Ser696=)
c.552T= (p.Ser184=)
c.1224T= (p.Ser408=)
11g.118476967T>ACA382824137KMT2Ac.3418T>A (p.Ser1140Thr)
c.901T>A (p.Ser301Thr)
c.802T>A (p.Ser268Thr)
c.1126T>A (p.Ser376Thr)
c.300T>A
c.3319T>A (p.Ser1107Thr)
c.571T>A (p.Ser191Thr)
c.2089T>A (p.Ser697Thr)
c.553T>A (p.Ser185Thr)
c.1225T>A (p.Ser409Thr)
11g.118476967T>CCA382824139KMT2Ac.3418T>C (p.Ser1140Pro)
c.901T>C (p.Ser301Pro)
c.802T>C (p.Ser268Pro)
c.1126T>C (p.Ser376Pro)
c.300T>C
c.3319T>C (p.Ser1107Pro)
c.571T>C (p.Ser191Pro)
c.2089T>C (p.Ser697Pro)
c.553T>C (p.Ser185Pro)
c.1225T>C (p.Ser409Pro)
11g.118476967T>GCA382824141KMT2Ac.3418T>G (p.Ser1140Ala)
c.901T>G (p.Ser301Ala)
c.802T>G (p.Ser268Ala)
c.1126T>G (p.Ser376Ala)
c.300T>G
c.3319T>G (p.Ser1107Ala)
c.571T>G (p.Ser191Ala)
c.2089T>G (p.Ser697Ala)
c.553T>G (p.Ser185Ala)
c.1225T>G (p.Ser409Ala)
11g.118476968C>ACA382824143KMT2Ac.3419C>A (p.Ser1140Tyr)
c.902C>A (p.Ser301Tyr)
c.803C>A (p.Ser268Tyr)
c.1127C>A (p.Ser376Tyr)
c.301C>A
c.3320C>A (p.Ser1107Tyr)
c.572C>A (p.Ser191Tyr)
c.2090C>A (p.Ser697Tyr)
c.554C>A (p.Ser185Tyr)
c.1226C>A (p.Ser409Tyr)
11g.118476968C>GCA382824147KMT2Ac.3419C>G (p.Ser1140Cys)
c.902C>G (p.Ser301Cys)
c.803C>G (p.Ser268Cys)
c.1127C>G (p.Ser376Cys)
c.301C>G
c.3320C>G (p.Ser1107Cys)
c.572C>G (p.Ser191Cys)
c.2090C>G (p.Ser697Cys)
c.554C>G (p.Ser185Cys)
c.1226C>G (p.Ser409Cys)
dbSNP
11g.118476968C>TCA382824145KMT2Ac.3419C>T (p.Ser1140Phe)
c.902C>T (p.Ser301Phe)
c.803C>T (p.Ser268Phe)
c.1127C>T (p.Ser376Phe)
c.301C>T
c.3320C>T (p.Ser1107Phe)
c.572C>T (p.Ser191Phe)
c.2090C>T (p.Ser697Phe)
c.554C>T (p.Ser185Phe)
c.1226C>T (p.Ser409Phe)
11g.118476969C>ACA477088106KMT2Ac.3420C>A (p.Ser1140=)
c.903C>A (p.Ser301=)
c.804C>A (p.Ser268=)
c.1128C>A (p.Ser376=)
c.302C>A
c.3321C>A (p.Ser1107=)
c.573C>A (p.Ser191=)
c.2091C>A (p.Ser697=)
c.555C>A (p.Ser185=)
c.1227C>A (p.Ser409=)
11g.118476969C>GCA477088107KMT2Ac.3420C>G (p.Ser1140=)
c.903C>G (p.Ser301=)
c.804C>G (p.Ser268=)
c.1128C>G (p.Ser376=)
c.302C>G
c.3321C>G (p.Ser1107=)
c.573C>G (p.Ser191=)
c.2091C>G (p.Ser697=)
c.555C>G (p.Ser185=)
c.1227C>G (p.Ser409=)
11g.118476969C>TCA477088108KMT2Ac.3420C>T (p.Ser1140=)
c.903C>T (p.Ser301=)
c.804C>T (p.Ser268=)
c.1128C>T (p.Ser376=)
c.302C>T
c.3321C>T (p.Ser1107=)
c.573C>T (p.Ser191=)
c.2091C>T (p.Ser697=)
c.555C>T (p.Ser185=)
c.1227C>T (p.Ser409=)
11g.118476970A=CA2003521121KMT2Ac.3421A= (p.Met1141=)
c.904A= (p.Met302=)
c.805A= (p.Met269=)
c.1129A= (p.Met377=)
c.303A=
c.3322A= (p.Met1108=)
c.574A= (p.Met192=)
c.2092A= (p.Met698=)
c.556A= (p.Met186=)
c.1228A= (p.Met410=)
11g.118476970A>CCA382824149KMT2Ac.3421A>C (p.Met1141Leu)
c.904A>C (p.Met302Leu)
c.805A>C (p.Met269Leu)
c.1129A>C (p.Met377Leu)
c.303A>C
c.3322A>C (p.Met1108Leu)
c.574A>C (p.Met192Leu)
c.2092A>C (p.Met698Leu)
c.556A>C (p.Met186Leu)
c.1228A>C (p.Met410Leu)
11g.118476970A>GCA382824151KMT2Ac.3421A>G (p.Met1141Val)
c.904A>G (p.Met302Val)
c.805A>G (p.Met269Val)
c.1129A>G (p.Met377Val)
c.303A>G
c.3322A>G (p.Met1108Val)
c.574A>G (p.Met192Val)
c.2092A>G (p.Met698Val)
c.556A>G (p.Met186Val)
c.1228A>G (p.Met410Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118476970A>TCA382824153KMT2Ac.3421A>T (p.Met1141Leu)
c.904A>T (p.Met302Leu)
c.805A>T (p.Met269Leu)
c.1129A>T (p.Met377Leu)
c.303A>T
c.3322A>T (p.Met1108Leu)
c.574A>T (p.Met192Leu)
c.2092A>T (p.Met698Leu)
c.556A>T (p.Met186Leu)
c.1228A>T (p.Met410Leu)
gnomAD v4
11g.118476971T>ACA382824155KMT2Ac.3422T>A (p.Met1141Lys)
c.905T>A (p.Met302Lys)
c.806T>A (p.Met269Lys)
c.1130T>A (p.Met377Lys)
c.304T>A
c.3323T>A (p.Met1108Lys)
c.575T>A (p.Met192Lys)
c.2093T>A (p.Met698Lys)
c.557T>A (p.Met186Lys)
c.1229T>A (p.Met410Lys)
11g.118476971T>CCA382824157KMT2Ac.3422T>C (p.Met1141Thr)
c.905T>C (p.Met302Thr)
c.806T>C (p.Met269Thr)
c.1130T>C (p.Met377Thr)
c.304T>C
c.3323T>C (p.Met1108Thr)
c.575T>C (p.Met192Thr)
c.2093T>C (p.Met698Thr)
c.557T>C (p.Met186Thr)
c.1229T>C (p.Met410Thr)
11g.118476971T>GCA382824159KMT2Ac.3422T>G (p.Met1141Arg)
c.905T>G (p.Met302Arg)
c.806T>G (p.Met269Arg)
c.1130T>G (p.Met377Arg)
c.304T>G
c.3323T>G (p.Met1108Arg)
c.575T>G (p.Met192Arg)
c.2093T>G (p.Met698Arg)
c.557T>G (p.Met186Arg)
c.1229T>G (p.Met410Arg)
11g.118476972G>ACA382824161KMT2Ac.3423G>A (p.Met1141Ile)
c.906G>A (p.Met302Ile)
c.807G>A (p.Met269Ile)
c.1131G>A (p.Met377Ile)
c.305G>A
c.3324G>A (p.Met1108Ile)
c.576G>A (p.Met192Ile)
c.2094G>A (p.Met698Ile)
c.558G>A (p.Met186Ile)
c.1230G>A (p.Met410Ile)
gnomAD v4
11g.118476972G>CCA382824162KMT2Ac.3423G>C (p.Met1141Ile)
c.906G>C (p.Met302Ile)
c.807G>C (p.Met269Ile)
c.1131G>C (p.Met377Ile)
c.305G>C
c.3324G>C (p.Met1108Ile)
c.576G>C (p.Met192Ile)
c.2094G>C (p.Met698Ile)
c.558G>C (p.Met186Ile)
c.1230G>C (p.Met410Ile)
11g.118476972G>TCA382824164KMT2Ac.3423G>T (p.Met1141Ile)
c.906G>T (p.Met302Ile)
c.807G>T (p.Met269Ile)
c.1131G>T (p.Met377Ile)
c.305G>T
c.3324G>T (p.Met1108Ile)
c.576G>T (p.Met192Ile)
c.2094G>T (p.Met698Ile)
c.558G>T (p.Met186Ile)
c.1230G>T (p.Met410Ile)
11g.118476973G>ACA382824166KMT2Ac.3424G>A (p.Gly1142Arg)
c.907G>A (p.Gly303Arg)
c.808G>A (p.Gly270Arg)
c.1132G>A (p.Gly378Arg)
c.306G>A
c.3325G>A (p.Gly1109Arg)
c.577G>A (p.Gly193Arg)
c.2095G>A (p.Gly699Arg)
c.559G>A (p.Gly187Arg)
c.1231G>A (p.Gly411Arg)
11g.118476973G>CCA382824167KMT2Ac.3424G>C (p.Gly1142Arg)
c.907G>C (p.Gly303Arg)
c.808G>C (p.Gly270Arg)
c.1132G>C (p.Gly378Arg)
c.306G>C
c.3325G>C (p.Gly1109Arg)
c.577G>C (p.Gly193Arg)
c.2095G>C (p.Gly699Arg)
c.559G>C (p.Gly187Arg)
c.1231G>C (p.Gly411Arg)
11g.118476973G>TCA382824169KMT2Ac.3424G>T (p.Gly1142Trp)
c.907G>T (p.Gly303Trp)
c.808G>T (p.Gly270Trp)
c.1132G>T (p.Gly378Trp)
c.306G>T
c.3325G>T (p.Gly1109Trp)
c.577G>T (p.Gly193Trp)
c.2095G>T (p.Gly699Trp)
c.559G>T (p.Gly187Trp)
c.1231G>T (p.Gly411Trp)
11g.118476974G>ACA382824175KMT2Ac.3425G>A (p.Gly1142Glu)
c.908G>A (p.Gly303Glu)
c.809G>A (p.Gly270Glu)
c.1133G>A (p.Gly378Glu)
c.307G>A
c.3326G>A (p.Gly1109Glu)
c.578G>A (p.Gly193Glu)
c.2096G>A (p.Gly699Glu)
c.560G>A (p.Gly187Glu)
c.1232G>A (p.Gly411Glu)
dbSNP
11g.118476974G>CCA382824173KMT2Ac.3425G>C (p.Gly1142Ala)
c.908G>C (p.Gly303Ala)
c.809G>C (p.Gly270Ala)
c.1133G>C (p.Gly378Ala)
c.307G>C
c.3326G>C (p.Gly1109Ala)
c.578G>C (p.Gly193Ala)
c.2096G>C (p.Gly699Ala)
c.560G>C (p.Gly187Ala)
c.1232G>C (p.Gly411Ala)
11g.118476974G=CA2003521130KMT2Ac.3425G= (p.Gly1142=)
c.908G= (p.Gly303=)
c.809G= (p.Gly270=)
c.1133G= (p.Gly378=)
c.307G=
c.3326G= (p.Gly1109=)
c.578G= (p.Gly193=)
c.2096G= (p.Gly699=)
c.560G= (p.Gly187=)
c.1232G= (p.Gly411=)
11g.118476974G>TCA382824171KMT2Ac.3425G>T (p.Gly1142Val)
c.908G>T (p.Gly303Val)
c.809G>T (p.Gly270Val)
c.1133G>T (p.Gly378Val)
c.307G>T
c.3326G>T (p.Gly1109Val)
c.578G>T (p.Gly193Val)
c.2096G>T (p.Gly699Val)
c.560G>T (p.Gly187Val)
c.1232G>T (p.Gly411Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118476975G>ACA477088110KMT2Ac.3426G>A (p.Gly1142=)
c.909G>A (p.Gly303=)
c.810G>A (p.Gly270=)
c.1134G>A (p.Gly378=)
c.308G>A
c.3327G>A (p.Gly1109=)
c.579G>A (p.Gly193=)
c.2097G>A (p.Gly699=)
c.561G>A (p.Gly187=)
c.1233G>A (p.Gly411=)
ClinVar gnomAD v4
11g.118476975G>CCA477088111KMT2Ac.3426G>C (p.Gly1142=)
c.909G>C (p.Gly303=)
c.810G>C (p.Gly270=)
c.1134G>C (p.Gly378=)
c.308G>C
c.3327G>C (p.Gly1109=)
c.579G>C (p.Gly193=)
c.2097G>C (p.Gly699=)
c.561G>C (p.Gly187=)
c.1233G>C (p.Gly411=)
gnomAD v4
11g.118476975G>TCA477088112KMT2Ac.3426G>T (p.Gly1142=)
c.909G>T (p.Gly303=)
c.810G>T (p.Gly270=)
c.1134G>T (p.Gly378=)
c.308G>T
c.3327G>T (p.Gly1109=)
c.579G>T (p.Gly193=)
c.2097G>T (p.Gly699=)
c.561G>T (p.Gly187=)
c.1233G>T (p.Gly411=)
gnomAD v4
11g.118476976A>CCA382824179KMT2Ac.3427A>C (p.Asn1143His)
c.910A>C (p.Asn304His)
c.811A>C (p.Asn271His)
c.1135A>C (p.Asn379His)
c.309A>C
c.3328A>C (p.Asn1110His)
c.580A>C (p.Asn194His)
c.2098A>C (p.Asn700His)
c.562A>C (p.Asn188His)
c.1234A>C (p.Asn412His)
11g.118476976A>GCA382824177KMT2Ac.3427A>G (p.Asn1143Asp)
c.910A>G (p.Asn304Asp)
c.811A>G (p.Asn271Asp)
c.1135A>G (p.Asn379Asp)
c.309A>G
c.3328A>G (p.Asn1110Asp)
c.580A>G (p.Asn194Asp)
c.2098A>G (p.Asn700Asp)
c.562A>G (p.Asn188Asp)
c.1234A>G (p.Asn412Asp)
11g.118476976A>TCA382824181KMT2Ac.3427A>T (p.Asn1143Tyr)
c.910A>T (p.Asn304Tyr)
c.811A>T (p.Asn271Tyr)
c.1135A>T (p.Asn379Tyr)
c.309A>T
c.3328A>T (p.Asn1110Tyr)
c.580A>T (p.Asn194Tyr)
c.2098A>T (p.Asn700Tyr)
c.562A>T (p.Asn188Tyr)
c.1234A>T (p.Asn412Tyr)
11g.118476977A=CA2003521140KMT2Ac.3428A= (p.Asn1143=)
c.911A= (p.Asn304=)
c.812A= (p.Asn271=)
c.1136A= (p.Asn379=)
c.310A=
c.3329A= (p.Asn1110=)
c.581A= (p.Asn194=)
c.2099A= (p.Asn700=)
c.563A= (p.Asn188=)
c.1235A= (p.Asn412=)
11g.118476977A>CCA382824183KMT2Ac.3428A>C (p.Asn1143Thr)
c.911A>C (p.Asn304Thr)
c.812A>C (p.Asn271Thr)
c.1136A>C (p.Asn379Thr)
c.310A>C
c.3329A>C (p.Asn1110Thr)
c.581A>C (p.Asn194Thr)
c.2099A>C (p.Asn700Thr)
c.563A>C (p.Asn188Thr)
c.1235A>C (p.Asn412Thr)
11g.118476977A>GCA6303642KMT2Ac.3428A>G (p.Asn1143Ser)
c.911A>G (p.Asn304Ser)
c.812A>G (p.Asn271Ser)
c.1136A>G (p.Asn379Ser)
c.310A>G
c.3329A>G (p.Asn1110Ser)
c.581A>G (p.Asn194Ser)
c.2099A>G (p.Asn700Ser)
c.563A>G (p.Asn188Ser)
c.1235A>G (p.Asn412Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118476977A>TCA382824185KMT2Ac.3428A>T (p.Asn1143Ile)
c.911A>T (p.Asn304Ile)
c.812A>T (p.Asn271Ile)
c.1136A>T (p.Asn379Ile)
c.310A>T
c.3329A>T (p.Asn1110Ile)
c.581A>T (p.Asn194Ile)
c.2099A>T (p.Asn700Ile)
c.563A>T (p.Asn188Ile)
c.1235A>T (p.Asn412Ile)
11g.118476978T>ACA382824186KMT2Ac.3429T>A (p.Asn1143Lys)
c.912T>A (p.Asn304Lys)
c.813T>A (p.Asn271Lys)
c.1137T>A (p.Asn379Lys)
c.311T>A
c.3330T>A (p.Asn1110Lys)
c.582T>A (p.Asn194Lys)
c.2100T>A (p.Asn700Lys)
c.564T>A (p.Asn188Lys)
c.1236T>A (p.Asn412Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118476978T>CCA477088115KMT2Ac.3429T>C (p.Asn1143=)
c.912T>C (p.Asn304=)
c.813T>C (p.Asn271=)
c.1137T>C (p.Asn379=)
c.311T>C
c.3330T>C (p.Asn1110=)
c.582T>C (p.Asn194=)
c.2100T>C (p.Asn700=)
c.564T>C (p.Asn188=)
c.1236T>C (p.Asn412=)
dbSNP gnomAD v3 gnomAD v4
11g.118476978T>GCA382824187KMT2Ac.3429T>G (p.Asn1143Lys)
c.912T>G (p.Asn304Lys)
c.813T>G (p.Asn271Lys)
c.1137T>G (p.Asn379Lys)
c.311T>G
c.3330T>G (p.Asn1110Lys)
c.582T>G (p.Asn194Lys)
c.2100T>G (p.Asn700Lys)
c.564T>G (p.Asn188Lys)
c.1236T>G (p.Asn412Lys)
11g.118476978T=CA2003521147KMT2Ac.3429T= (p.Asn1143=)
c.912T= (p.Asn304=)
c.813T= (p.Asn271=)
c.1137T= (p.Asn379=)
c.311T=
c.3330T= (p.Asn1110=)
c.582T= (p.Asn194=)
c.2100T= (p.Asn700=)
c.564T= (p.Asn188=)
c.1236T= (p.Asn412=)
11g.118476979G>ACA382824189KMT2Ac.3430G>A (p.Asp1144Asn)
c.913G>A (p.Asp305Asn)
c.814G>A (p.Asp272Asn)
c.1138G>A (p.Asp380Asn)
c.312G>A
c.3331G>A (p.Asp1111Asn)
c.583G>A (p.Asp195Asn)
c.2101G>A (p.Asp701Asn)
c.565G>A (p.Asp189Asn)
c.1237G>A (p.Asp413Asn)
11g.118476979G>CCA382824191KMT2Ac.3430G>C (p.Asp1144His)
c.913G>C (p.Asp305His)
c.814G>C (p.Asp272His)
c.1138G>C (p.Asp380His)
c.312G>C
c.3331G>C (p.Asp1111His)
c.583G>C (p.Asp195His)
c.2101G>C (p.Asp701His)
c.565G>C (p.Asp189His)
c.1237G>C (p.Asp413His)
11g.118476979G>TCA382824192KMT2Ac.3430G>T (p.Asp1144Tyr)
c.913G>T (p.Asp305Tyr)
c.814G>T (p.Asp272Tyr)
c.1138G>T (p.Asp380Tyr)
c.312G>T
c.3331G>T (p.Asp1111Tyr)
c.583G>T (p.Asp195Tyr)
c.2101G>T (p.Asp701Tyr)
c.565G>T (p.Asp189Tyr)
c.1237G>T (p.Asp413Tyr)
11g.118476980A=CA2003521157KMT2Ac.3431A= (p.Asp1144=)
c.914A= (p.Asp305=)
c.815A= (p.Asp272=)
c.1139A= (p.Asp380=)
c.313A=
c.3332A= (p.Asp1111=)
c.584A= (p.Asp195=)
c.2102A= (p.Asp701=)
c.566A= (p.Asp189=)
c.1238A= (p.Asp413=)
11g.118476980A>CCA382824194KMT2Ac.3431A>C (p.Asp1144Ala)
c.914A>C (p.Asp305Ala)
c.815A>C (p.Asp272Ala)
c.1139A>C (p.Asp380Ala)
c.313A>C
c.3332A>C (p.Asp1111Ala)
c.584A>C (p.Asp195Ala)
c.2102A>C (p.Asp701Ala)
c.566A>C (p.Asp189Ala)
c.1238A>C (p.Asp413Ala)
11g.118476980A>GCA382824196KMT2Ac.3431A>G (p.Asp1144Gly)
c.914A>G (p.Asp305Gly)
c.815A>G (p.Asp272Gly)
c.1139A>G (p.Asp380Gly)
c.313A>G
c.3332A>G (p.Asp1111Gly)
c.584A>G (p.Asp195Gly)
c.2102A>G (p.Asp701Gly)
c.566A>G (p.Asp189Gly)
c.1238A>G (p.Asp413Gly)
11g.118476980A>TCA382824198KMT2Ac.3431A>T (p.Asp1144Val)
c.914A>T (p.Asp305Val)
c.815A>T (p.Asp272Val)
c.1139A>T (p.Asp380Val)
c.313A>T
c.3332A>T (p.Asp1111Val)
c.584A>T (p.Asp195Val)
c.2102A>T (p.Asp701Val)
c.566A>T (p.Asp189Val)
c.1238A>T (p.Asp413Val)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.118476981T>ACA382824200KMT2Ac.3432T>A (p.Asp1144Glu)
c.915T>A (p.Asp305Glu)
c.816T>A (p.Asp272Glu)
c.1140T>A (p.Asp380Glu)
c.314T>A
c.3333T>A (p.Asp1111Glu)
c.585T>A (p.Asp195Glu)
c.2103T>A (p.Asp701Glu)
c.567T>A (p.Asp189Glu)
c.1239T>A (p.Asp413Glu)
11g.118476981T>CCA477088118KMT2Ac.3432T>C (p.Asp1144=)
c.915T>C (p.Asp305=)
c.816T>C (p.Asp272=)
c.1140T>C (p.Asp380=)
c.314T>C
c.3333T>C (p.Asp1111=)
c.585T>C (p.Asp195=)
c.2103T>C (p.Asp701=)
c.567T>C (p.Asp189=)
c.1239T>C (p.Asp413=)
11g.118476981T>GCA382824202KMT2Ac.3432T>G (p.Asp1144Glu)
c.915T>G (p.Asp305Glu)
c.816T>G (p.Asp272Glu)
c.1140T>G (p.Asp380Glu)
c.314T>G
c.3333T>G (p.Asp1111Glu)
c.585T>G (p.Asp195Glu)
c.2103T>G (p.Asp701Glu)
c.567T>G (p.Asp189Glu)
c.1239T>G (p.Asp413Glu)
11g.118476982G>ACA382824208KMT2Ac.3433G>A (p.Asp1145Asn)
c.916G>A (p.Asp306Asn)
c.817G>A (p.Asp273Asn)
c.1141G>A (p.Asp381Asn)
c.315G>A
c.3334G>A (p.Asp1112Asn)
c.586G>A (p.Asp196Asn)
c.2104G>A (p.Asp702Asn)
c.568G>A (p.Asp190Asn)
c.1240G>A (p.Asp414Asn)
11g.118476982G>CCA382824204KMT2Ac.3433G>C (p.Asp1145His)
c.916G>C (p.Asp306His)
c.817G>C (p.Asp273His)
c.1141G>C (p.Asp381His)
c.315G>C
c.3334G>C (p.Asp1112His)
c.586G>C (p.Asp196His)
c.2104G>C (p.Asp702His)
c.568G>C (p.Asp190His)
c.1240G>C (p.Asp414His)
11g.118476982G>TCA382824206KMT2Ac.3433G>T (p.Asp1145Tyr)
c.916G>T (p.Asp306Tyr)
c.817G>T (p.Asp273Tyr)
c.1141G>T (p.Asp381Tyr)
c.315G>T
c.3334G>T (p.Asp1112Tyr)
c.586G>T (p.Asp196Tyr)
c.2104G>T (p.Asp702Tyr)
c.568G>T (p.Asp190Tyr)
c.1240G>T (p.Asp414Tyr)
11g.118476983G>ACA382824210KMT2Ac.3433+1G>A (n.3433+1G>A)
c.916+1G>A (n.916+1G>A)
c.817+1G>A (n.817+1G>A)
c.1141+1G>A (n.1141+1G>A)
c.315+1G>A
c.3334+1G>A (n.3334+1G>A)
c.586+1G>A (n.586+1G>A)
c.2104+1G>A (n.2104+1G>A)
c.568+1G>A (n.568+1G>A)
c.1240+1G>A (n.1240+1G>A)
ClinVar dbSNP
11g.118476983G>CCA382824212KMT2Ac.3433+1G>C (n.3433+1G>C)
c.916+1G>C (n.916+1G>C)
c.817+1G>C (n.817+1G>C)
c.1141+1G>C (n.1141+1G>C)
c.315+1G>C
c.3334+1G>C (n.3334+1G>C)
c.586+1G>C (n.586+1G>C)
c.2104+1G>C (n.2104+1G>C)
c.568+1G>C (n.568+1G>C)
c.1240+1G>C (n.1240+1G>C)
11g.118476983G=CA2003521163KMT2Ac.3433+1G= (n.3433+1G=)
c.916+1G= (n.916+1G=)
c.817+1G= (n.817+1G=)
c.1141+1G= (n.1141+1G=)
c.315+1G=
c.3334+1G= (n.3334+1G=)
c.586+1G= (n.586+1G=)
c.2104+1G= (n.2104+1G=)
c.568+1G= (n.568+1G=)
c.1240+1G= (n.1240+1G=)
11g.118476983G>TCA382824214KMT2Ac.3433+1G>T (n.3433+1G>T)
c.916+1G>T (n.916+1G>T)
c.817+1G>T (n.817+1G>T)
c.1141+1G>T (n.1141+1G>T)
c.315+1G>T
c.3334+1G>T (n.3334+1G>T)
c.586+1G>T (n.586+1G>T)
c.2104+1G>T (n.2104+1G>T)
c.568+1G>T (n.568+1G>T)
c.1240+1G>T (n.1240+1G>T)

Number of alleles fetched