Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.118480172A=CA2003511966KMT2Ac.3669-2A= (n.3669-2A=)
c.1152-2A= (n.1152-2A=)
c.1053-2A= (n.1053-2A=)
c.1377-2A= (n.1377-2A=)
c.551-2A=
c.3570-2A= (n.3570-2A=)
c.822-2A= (n.822-2A=)
c.2340-2A= (n.2340-2A=)
c.1476-2A= (n.1476-2A=)
11g.118480172A>CCA382826175KMT2Ac.3669-2A>C (n.3669-2A>C)
c.1152-2A>C (n.1152-2A>C)
c.1053-2A>C (n.1053-2A>C)
c.1377-2A>C (n.1377-2A>C)
c.551-2A>C
c.3570-2A>C (n.3570-2A>C)
c.822-2A>C (n.822-2A>C)
c.2340-2A>C (n.2340-2A>C)
c.1476-2A>C (n.1476-2A>C)
11g.118480172A>GCA382826176KMT2Ac.3669-2A>G (n.3669-2A>G)
c.1152-2A>G (n.1152-2A>G)
c.1053-2A>G (n.1053-2A>G)
c.1377-2A>G (n.1377-2A>G)
c.551-2A>G
c.3570-2A>G (n.3570-2A>G)
c.822-2A>G (n.822-2A>G)
c.2340-2A>G (n.2340-2A>G)
c.1476-2A>G (n.1476-2A>G)
ClinVar dbSNP
11g.118480172A>TCA382826179KMT2Ac.3669-2A>T (n.3669-2A>T)
c.1152-2A>T (n.1152-2A>T)
c.1053-2A>T (n.1053-2A>T)
c.1377-2A>T (n.1377-2A>T)
c.551-2A>T
c.3570-2A>T (n.3570-2A>T)
c.822-2A>T (n.822-2A>T)
c.2340-2A>T (n.2340-2A>T)
c.1476-2A>T (n.1476-2A>T)
11g.118480173G>ACA382826182KMT2Ac.3669-1G>A (n.3669-1G>A)
c.1152-1G>A (n.1152-1G>A)
c.1053-1G>A (n.1053-1G>A)
c.1377-1G>A (n.1377-1G>A)
c.551-1G>A
c.3570-1G>A (n.3570-1G>A)
c.822-1G>A (n.822-1G>A)
c.2340-1G>A (n.2340-1G>A)
c.1476-1G>A (n.1476-1G>A)
11g.118480173G>CCA382826185KMT2Ac.3669-1G>C (n.3669-1G>C)
c.1152-1G>C (n.1152-1G>C)
c.1053-1G>C (n.1053-1G>C)
c.1377-1G>C (n.1377-1G>C)
c.551-1G>C
c.3570-1G>C (n.3570-1G>C)
c.822-1G>C (n.822-1G>C)
c.2340-1G>C (n.2340-1G>C)
c.1476-1G>C (n.1476-1G>C)
11g.118480173G>TCA382826187KMT2Ac.3669-1G>T (n.3669-1G>T)
c.1152-1G>T (n.1152-1G>T)
c.1053-1G>T (n.1053-1G>T)
c.1377-1G>T (n.1377-1G>T)
c.551-1G>T
c.3570-1G>T (n.3570-1G>T)
c.822-1G>T (n.822-1G>T)
c.2340-1G>T (n.2340-1G>T)
c.1476-1G>T (n.1476-1G>T)
11g.118480174G>ACA6303680KMT2Ac.3669G>A (p.Lys1223=)
c.1152G>A (p.Lys384=)
c.1053G>A (p.Lys351=)
c.1377G>A (p.Lys459=)
c.551G>A
c.3570G>A (p.Lys1190=)
c.822G>A (p.Lys274=)
c.2340G>A (p.Lys780=)
c.1476G>A (p.Lys492=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480174G>CCA382826191KMT2Ac.3669G>C (p.Lys1223Asn)
c.1152G>C (p.Lys384Asn)
c.1053G>C (p.Lys351Asn)
c.1377G>C (p.Lys459Asn)
c.551G>C
c.3570G>C (p.Lys1190Asn)
c.822G>C (p.Lys274Asn)
c.2340G>C (p.Lys780Asn)
c.1476G>C (p.Lys492Asn)
11g.118480174G=CA2003511970KMT2Ac.3669G= (p.Lys1223=)
c.1152G= (p.Lys384=)
c.1053G= (p.Lys351=)
c.1377G= (p.Lys459=)
c.551G=
c.3570G= (p.Lys1190=)
c.822G= (p.Lys274=)
c.2340G= (p.Lys780=)
c.1476G= (p.Lys492=)
11g.118480174G>TCA382826194KMT2Ac.3669G>T (p.Lys1223Asn)
c.1152G>T (p.Lys384Asn)
c.1053G>T (p.Lys351Asn)
c.1377G>T (p.Lys459Asn)
c.551G>T
c.3570G>T (p.Lys1190Asn)
c.822G>T (p.Lys274Asn)
c.2340G>T (p.Lys780Asn)
c.1476G>T (p.Lys492Asn)
11g.118480175A=CA2003511973KMT2Ac.3670A= (p.Met1224=)
c.1153A= (p.Met385=)
c.1054A= (p.Met352=)
c.1378A= (p.Met460=)
c.552A=
c.3571A= (p.Met1191=)
c.823A= (p.Met275=)
c.2341A= (p.Met781=)
c.1477A= (p.Met493=)
11g.118480175A>CCA382826199KMT2Ac.3670A>C (p.Met1224Leu)
c.1153A>C (p.Met385Leu)
c.1054A>C (p.Met352Leu)
c.1378A>C (p.Met460Leu)
c.552A>C
c.3571A>C (p.Met1191Leu)
c.823A>C (p.Met275Leu)
c.2341A>C (p.Met781Leu)
c.1477A>C (p.Met493Leu)
11g.118480175A>GCA6303681KMT2Ac.3670A>G (p.Met1224Val)
c.1153A>G (p.Met385Val)
c.1054A>G (p.Met352Val)
c.1378A>G (p.Met460Val)
c.552A>G
c.3571A>G (p.Met1191Val)
c.823A>G (p.Met275Val)
c.2341A>G (p.Met781Val)
c.1477A>G (p.Met493Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480175A>TCA382826202KMT2Ac.3670A>T (p.Met1224Leu)
c.1153A>T (p.Met385Leu)
c.1054A>T (p.Met352Leu)
c.1378A>T (p.Met460Leu)
c.552A>T
c.3571A>T (p.Met1191Leu)
c.823A>T (p.Met275Leu)
c.2341A>T (p.Met781Leu)
c.1477A>T (p.Met493Leu)
11g.118480176T>ACA382826206KMT2Ac.3671T>A (p.Met1224Lys)
c.1154T>A (p.Met385Lys)
c.1055T>A (p.Met352Lys)
c.1379T>A (p.Met460Lys)
c.553T>A
c.3572T>A (p.Met1191Lys)
c.824T>A (p.Met275Lys)
c.2342T>A (p.Met781Lys)
c.1478T>A (p.Met493Lys)
11g.118480176T>CCA382826207KMT2Ac.3671T>C (p.Met1224Thr)
c.1154T>C (p.Met385Thr)
c.1055T>C (p.Met352Thr)
c.1379T>C (p.Met460Thr)
c.553T>C
c.3572T>C (p.Met1191Thr)
c.824T>C (p.Met275Thr)
c.2342T>C (p.Met781Thr)
c.1478T>C (p.Met493Thr)
11g.118480176T>GCA382826209KMT2Ac.3671T>G (p.Met1224Arg)
c.1154T>G (p.Met385Arg)
c.1055T>G (p.Met352Arg)
c.1379T>G (p.Met460Arg)
c.553T>G
c.3572T>G (p.Met1191Arg)
c.824T>G (p.Met275Arg)
c.2342T>G (p.Met781Arg)
c.1478T>G (p.Met493Arg)
gnomAD v4
11g.118480177G>ACA382826211KMT2Ac.3672G>A (p.Met1224Ile)
c.1155G>A (p.Met385Ile)
c.1056G>A (p.Met352Ile)
c.1380G>A (p.Met460Ile)
c.554G>A
c.3573G>A (p.Met1191Ile)
c.825G>A (p.Met275Ile)
c.2343G>A (p.Met781Ile)
c.1479G>A (p.Met493Ile)
ClinVar dbSNP gnomAD v4
11g.118480177G>CCA382826214KMT2Ac.3672G>C (p.Met1224Ile)
c.1155G>C (p.Met385Ile)
c.1056G>C (p.Met352Ile)
c.1380G>C (p.Met460Ile)
c.554G>C
c.3573G>C (p.Met1191Ile)
c.825G>C (p.Met275Ile)
c.2343G>C (p.Met781Ile)
c.1479G>C (p.Met493Ile)
11g.118480177G=CA2003511975KMT2Ac.3672G= (p.Met1224=)
c.1155G= (p.Met385=)
c.1056G= (p.Met352=)
c.1380G= (p.Met460=)
c.554G=
c.3573G= (p.Met1191=)
c.825G= (p.Met275=)
c.2343G= (p.Met781=)
c.1479G= (p.Met493=)
11g.118480177G>TCA382826216KMT2Ac.3672G>T (p.Met1224Ile)
c.1155G>T (p.Met385Ile)
c.1056G>T (p.Met352Ile)
c.1380G>T (p.Met460Ile)
c.554G>T
c.3573G>T (p.Met1191Ile)
c.825G>T (p.Met275Ile)
c.2343G>T (p.Met781Ile)
c.1479G>T (p.Met493Ile)
11g.118480178A>CCA477088689KMT2Ac.3673A>C (p.Arg1225=)
c.1156A>C (p.Arg386=)
c.1057A>C (p.Arg353=)
c.1381A>C (p.Arg461=)
c.555A>C
c.3574A>C (p.Arg1192=)
c.826A>C (p.Arg276=)
c.2344A>C (p.Arg782=)
c.1480A>C (p.Arg494=)
11g.118480178A>GCA382826218KMT2Ac.3673A>G (p.Arg1225Gly)
c.1156A>G (p.Arg386Gly)
c.1057A>G (p.Arg353Gly)
c.1381A>G (p.Arg461Gly)
c.555A>G
c.3574A>G (p.Arg1192Gly)
c.826A>G (p.Arg276Gly)
c.2344A>G (p.Arg782Gly)
c.1480A>G (p.Arg494Gly)
11g.118480178A>TCA382826221KMT2Ac.3673A>T (p.Arg1225Ter)
c.1156A>T (p.Arg386Ter)
c.1057A>T (p.Arg353Ter)
c.1381A>T (p.Arg461Ter)
c.555A>T
c.3574A>T (p.Arg1192Ter)
c.826A>T (p.Arg276Ter)
c.2344A>T (p.Arg782Ter)
c.1480A>T (p.Arg494Ter)
11g.118480179G>ACA382826224KMT2Ac.3674G>A (p.Arg1225Lys)
c.1157G>A (p.Arg386Lys)
c.1058G>A (p.Arg353Lys)
c.1382G>A (p.Arg461Lys)
c.556G>A
c.3575G>A (p.Arg1192Lys)
c.827G>A (p.Arg276Lys)
c.2345G>A (p.Arg782Lys)
c.1481G>A (p.Arg494Lys)
11g.118480179G>CCA382826225KMT2Ac.3674G>C (p.Arg1225Thr)
c.1157G>C (p.Arg386Thr)
c.1058G>C (p.Arg353Thr)
c.1382G>C (p.Arg461Thr)
c.556G>C
c.3575G>C (p.Arg1192Thr)
c.827G>C (p.Arg276Thr)
c.2345G>C (p.Arg782Thr)
c.1481G>C (p.Arg494Thr)
11g.118480179G>TCA382826226KMT2Ac.3674G>T (p.Arg1225Ile)
c.1157G>T (p.Arg386Ile)
c.1058G>T (p.Arg353Ile)
c.1382G>T (p.Arg461Ile)
c.556G>T
c.3575G>T (p.Arg1192Ile)
c.827G>T (p.Arg276Ile)
c.2345G>T (p.Arg782Ile)
c.1481G>T (p.Arg494Ile)
11g.118480180A=CA2003511981KMT2Ac.3675A= (p.Arg1225=)
c.1158A= (p.Arg386=)
c.1059A= (p.Arg353=)
c.1383A= (p.Arg461=)
c.557A=
c.3576A= (p.Arg1192=)
c.828A= (p.Arg276=)
c.2346A= (p.Arg782=)
c.1482A= (p.Arg494=)
11g.118480180A>CCA382826230KMT2Ac.3675A>C (p.Arg1225Ser)
c.1158A>C (p.Arg386Ser)
c.1059A>C (p.Arg353Ser)
c.1383A>C (p.Arg461Ser)
c.557A>C
c.3576A>C (p.Arg1192Ser)
c.828A>C (p.Arg276Ser)
c.2346A>C (p.Arg782Ser)
c.1482A>C (p.Arg494Ser)
11g.118480180A>GCA477088693KMT2Ac.3675A>G (p.Arg1225=)
c.1158A>G (p.Arg386=)
c.1059A>G (p.Arg353=)
c.1383A>G (p.Arg461=)
c.557A>G
c.3576A>G (p.Arg1192=)
c.828A>G (p.Arg276=)
c.2346A>G (p.Arg782=)
c.1482A>G (p.Arg494=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480180A>TCA382826233KMT2Ac.3675A>T (p.Arg1225Ser)
c.1158A>T (p.Arg386Ser)
c.1059A>T (p.Arg353Ser)
c.1383A>T (p.Arg461Ser)
c.557A>T
c.3576A>T (p.Arg1192Ser)
c.828A>T (p.Arg276Ser)
c.2346A>T (p.Arg782Ser)
c.1482A>T (p.Arg494Ser)
11g.118480181A>CCA382826243KMT2Ac.3676A>C (p.Lys1226Gln)
c.1159A>C (p.Lys387Gln)
c.1060A>C (p.Lys354Gln)
c.1384A>C (p.Lys462Gln)
c.558A>C
c.3577A>C (p.Lys1193Gln)
c.829A>C (p.Lys277Gln)
c.2347A>C (p.Lys783Gln)
c.1483A>C (p.Lys495Gln)
11g.118480181A>GCA382826245KMT2Ac.3676A>G (p.Lys1226Glu)
c.1159A>G (p.Lys387Glu)
c.1060A>G (p.Lys354Glu)
c.1384A>G (p.Lys462Glu)
c.558A>G
c.3577A>G (p.Lys1193Glu)
c.829A>G (p.Lys277Glu)
c.2347A>G (p.Lys783Glu)
c.1483A>G (p.Lys495Glu)
11g.118480181A>TCA382826248KMT2Ac.3676A>T (p.Lys1226Ter)
c.1159A>T (p.Lys387Ter)
c.1060A>T (p.Lys354Ter)
c.1384A>T (p.Lys462Ter)
c.558A>T
c.3577A>T (p.Lys1193Ter)
c.829A>T (p.Lys277Ter)
c.2347A>T (p.Lys783Ter)
c.1483A>T (p.Lys495Ter)
11g.118480182A>CCA382826251KMT2Ac.3677A>C (p.Lys1226Thr)
c.1160A>C (p.Lys387Thr)
c.1061A>C (p.Lys354Thr)
c.1385A>C (p.Lys462Thr)
c.559A>C
c.3578A>C (p.Lys1193Thr)
c.830A>C (p.Lys277Thr)
c.2348A>C (p.Lys783Thr)
c.1484A>C (p.Lys495Thr)
11g.118480182A>GCA382826253KMT2Ac.3677A>G (p.Lys1226Arg)
c.1160A>G (p.Lys387Arg)
c.1061A>G (p.Lys354Arg)
c.1385A>G (p.Lys462Arg)
c.559A>G
c.3578A>G (p.Lys1193Arg)
c.830A>G (p.Lys277Arg)
c.2348A>G (p.Lys783Arg)
c.1484A>G (p.Lys495Arg)
11g.118480182A>TCA382826257KMT2Ac.3677A>T (p.Lys1226Ile)
c.1160A>T (p.Lys387Ile)
c.1061A>T (p.Lys354Ile)
c.1385A>T (p.Lys462Ile)
c.559A>T
c.3578A>T (p.Lys1193Ile)
c.830A>T (p.Lys277Ile)
c.2348A>T (p.Lys783Ile)
c.1484A>T (p.Lys495Ile)
11g.118480183A>CCA382826259KMT2Ac.3678A>C (p.Lys1226Asn)
c.1161A>C (p.Lys387Asn)
c.1062A>C (p.Lys354Asn)
c.1386A>C (p.Lys462Asn)
c.560A>C
c.3579A>C (p.Lys1193Asn)
c.831A>C (p.Lys277Asn)
c.2349A>C (p.Lys783Asn)
c.1485A>C (p.Lys495Asn)
11g.118480183A>GCA477088698KMT2Ac.3678A>G (p.Lys1226=)
c.1161A>G (p.Lys387=)
c.1062A>G (p.Lys354=)
c.1386A>G (p.Lys462=)
c.560A>G
c.3579A>G (p.Lys1193=)
c.831A>G (p.Lys277=)
c.2349A>G (p.Lys783=)
c.1485A>G (p.Lys495=)
11g.118480183A>TCA382826262KMT2Ac.3678A>T (p.Lys1226Asn)
c.1161A>T (p.Lys387Asn)
c.1062A>T (p.Lys354Asn)
c.1386A>T (p.Lys462Asn)
c.560A>T
c.3579A>T (p.Lys1193Asn)
c.831A>T (p.Lys277Asn)
c.2349A>T (p.Lys783Asn)
c.1485A>T (p.Lys495Asn)
11g.118480184T>ACA382826266KMT2Ac.3679T>A (p.Cys1227Ser)
c.1162T>A (p.Cys388Ser)
c.1063T>A (p.Cys355Ser)
c.1387T>A (p.Cys463Ser)
c.561T>A
c.3580T>A (p.Cys1194Ser)
c.832T>A (p.Cys278Ser)
c.2350T>A (p.Cys784Ser)
c.1486T>A (p.Cys496Ser)
11g.118480184T>CCA382826267KMT2Ac.3679T>C (p.Cys1227Arg)
c.1162T>C (p.Cys388Arg)
c.1063T>C (p.Cys355Arg)
c.1387T>C (p.Cys463Arg)
c.561T>C
c.3580T>C (p.Cys1194Arg)
c.832T>C (p.Cys278Arg)
c.2350T>C (p.Cys784Arg)
c.1486T>C (p.Cys496Arg)
11g.118480184T>GCA382826269KMT2Ac.3679T>G (p.Cys1227Gly)
c.1162T>G (p.Cys388Gly)
c.1063T>G (p.Cys355Gly)
c.1387T>G (p.Cys463Gly)
c.561T>G
c.3580T>G (p.Cys1194Gly)
c.832T>G (p.Cys278Gly)
c.2350T>G (p.Cys784Gly)
c.1486T>G (p.Cys496Gly)
11g.118480185G>ACA382826277KMT2Ac.3680G>A (p.Cys1227Tyr)
c.1163G>A (p.Cys388Tyr)
c.1064G>A (p.Cys355Tyr)
c.1388G>A (p.Cys463Tyr)
c.562G>A
c.3581G>A (p.Cys1194Tyr)
c.833G>A (p.Cys278Tyr)
c.2351G>A (p.Cys784Tyr)
c.1487G>A (p.Cys496Tyr)
ClinVar dbSNP
11g.118480185G>CCA382826275KMT2Ac.3680G>C (p.Cys1227Ser)
c.1163G>C (p.Cys388Ser)
c.1064G>C (p.Cys355Ser)
c.1388G>C (p.Cys463Ser)
c.562G>C
c.3581G>C (p.Cys1194Ser)
c.833G>C (p.Cys278Ser)
c.2351G>C (p.Cys784Ser)
c.1487G>C (p.Cys496Ser)
11g.118480185G=CA2003511986KMT2Ac.3680G= (p.Cys1227=)
c.1163G= (p.Cys388=)
c.1064G= (p.Cys355=)
c.1388G= (p.Cys463=)
c.562G=
c.3581G= (p.Cys1194=)
c.833G= (p.Cys278=)
c.2351G= (p.Cys784=)
c.1487G= (p.Cys496=)
11g.118480185G>TCA382826272KMT2Ac.3680G>T (p.Cys1227Phe)
c.1163G>T (p.Cys388Phe)
c.1064G>T (p.Cys355Phe)
c.1388G>T (p.Cys463Phe)
c.562G>T
c.3581G>T (p.Cys1194Phe)
c.833G>T (p.Cys278Phe)
c.2351G>T (p.Cys784Phe)
c.1487G>T (p.Cys496Phe)
11g.118480186T>ACA382826279KMT2Ac.3681T>A (p.Cys1227Ter)
c.1164T>A (p.Cys388Ter)
c.1065T>A (p.Cys355Ter)
c.1389T>A (p.Cys463Ter)
c.563T>A
c.3582T>A (p.Cys1194Ter)
c.834T>A (p.Cys278Ter)
c.2352T>A (p.Cys784Ter)
c.1488T>A (p.Cys496Ter)
11g.118480186T>CCA477088702KMT2Ac.3681T>C (p.Cys1227=)
c.1164T>C (p.Cys388=)
c.1065T>C (p.Cys355=)
c.1389T>C (p.Cys463=)
c.563T>C
c.3582T>C (p.Cys1194=)
c.834T>C (p.Cys278=)
c.2352T>C (p.Cys784=)
c.1488T>C (p.Cys496=)
11g.118480186T>GCA382826282KMT2Ac.3681T>G (p.Cys1227Trp)
c.1164T>G (p.Cys388Trp)
c.1065T>G (p.Cys355Trp)
c.1389T>G (p.Cys463Trp)
c.563T>G
c.3582T>G (p.Cys1194Trp)
c.834T>G (p.Cys278Trp)
c.2352T>G (p.Cys784Trp)
c.1488T>G (p.Cys496Trp)
11g.118480187C>ACA382826284KMT2Ac.3682C>A (p.Gln1228Lys)
c.1165C>A (p.Gln389Lys)
c.1066C>A (p.Gln356Lys)
c.1390C>A (p.Gln464Lys)
c.564C>A
c.3583C>A (p.Gln1195Lys)
c.835C>A (p.Gln279Lys)
c.2353C>A (p.Gln785Lys)
c.1489C>A (p.Gln497Lys)
11g.118480187C>GCA382826286KMT2Ac.3682C>G (p.Gln1228Glu)
c.1165C>G (p.Gln389Glu)
c.1066C>G (p.Gln356Glu)
c.1390C>G (p.Gln464Glu)
c.564C>G
c.3583C>G (p.Gln1195Glu)
c.835C>G (p.Gln279Glu)
c.2353C>G (p.Gln785Glu)
c.1489C>G (p.Gln497Glu)
11g.118480187C>TCA382826287KMT2Ac.3682C>T (p.Gln1228Ter)
c.1165C>T (p.Gln389Ter)
c.1066C>T (p.Gln356Ter)
c.1390C>T (p.Gln464Ter)
c.564C>T
c.3583C>T (p.Gln1195Ter)
c.835C>T (p.Gln279Ter)
c.2353C>T (p.Gln785Ter)
c.1489C>T (p.Gln497Ter)
COSMIC COSMIC
11g.118480188A>CCA382826289KMT2Ac.3683A>C (p.Gln1228Pro)
c.1166A>C (p.Gln389Pro)
c.1067A>C (p.Gln356Pro)
c.1391A>C (p.Gln464Pro)
c.565A>C
c.3584A>C (p.Gln1195Pro)
c.836A>C (p.Gln279Pro)
c.2354A>C (p.Gln785Pro)
c.1490A>C (p.Gln497Pro)
11g.118480188A>GCA382826291KMT2Ac.3683A>G (p.Gln1228Arg)
c.1166A>G (p.Gln389Arg)
c.1067A>G (p.Gln356Arg)
c.1391A>G (p.Gln464Arg)
c.565A>G
c.3584A>G (p.Gln1195Arg)
c.836A>G (p.Gln279Arg)
c.2354A>G (p.Gln785Arg)
c.1490A>G (p.Gln497Arg)
11g.118480188A>TCA382826294KMT2Ac.3683A>T (p.Gln1228Leu)
c.1166A>T (p.Gln389Leu)
c.1067A>T (p.Gln356Leu)
c.1391A>T (p.Gln464Leu)
c.565A>T
c.3584A>T (p.Gln1195Leu)
c.836A>T (p.Gln279Leu)
c.2354A>T (p.Gln785Leu)
c.1490A>T (p.Gln497Leu)
11g.118480189G>ACA477088708KMT2Ac.3684G>A (p.Gln1228=)
c.1167G>A (p.Gln389=)
c.1068G>A (p.Gln356=)
c.1392G>A (p.Gln464=)
c.566G>A
c.3585G>A (p.Gln1195=)
c.837G>A (p.Gln279=)
c.2355G>A (p.Gln785=)
c.1491G>A (p.Gln497=)
gnomAD v4
11g.118480189G>CCA382826297KMT2Ac.3684G>C (p.Gln1228His)
c.1167G>C (p.Gln389His)
c.1068G>C (p.Gln356His)
c.1392G>C (p.Gln464His)
c.566G>C
c.3585G>C (p.Gln1195His)
c.837G>C (p.Gln279His)
c.2355G>C (p.Gln785His)
c.1491G>C (p.Gln497His)
11g.118480189G>TCA382826299KMT2Ac.3684G>T (p.Gln1228His)
c.1167G>T (p.Gln389His)
c.1068G>T (p.Gln356His)
c.1392G>T (p.Gln464His)
c.566G>T
c.3585G>T (p.Gln1195His)
c.837G>T (p.Gln279His)
c.2355G>T (p.Gln785His)
c.1491G>T (p.Gln497His)
11g.118480190A>CCA382826303KMT2Ac.3685A>C (p.Asn1229His)
c.1168A>C (p.Asn390His)
c.1069A>C (p.Asn357His)
c.1393A>C (p.Asn465His)
c.567A>C
c.3586A>C (p.Asn1196His)
c.838A>C (p.Asn280His)
c.2356A>C (p.Asn786His)
c.1492A>C (p.Asn498His)
11g.118480190A>GCA382826306KMT2Ac.3685A>G (p.Asn1229Asp)
c.1168A>G (p.Asn390Asp)
c.1069A>G (p.Asn357Asp)
c.1393A>G (p.Asn465Asp)
c.567A>G
c.3586A>G (p.Asn1196Asp)
c.838A>G (p.Asn280Asp)
c.2356A>G (p.Asn786Asp)
c.1492A>G (p.Asn498Asp)
11g.118480190A>TCA382826307KMT2Ac.3685A>T (p.Asn1229Tyr)
c.1168A>T (p.Asn390Tyr)
c.1069A>T (p.Asn357Tyr)
c.1393A>T (p.Asn465Tyr)
c.567A>T
c.3586A>T (p.Asn1196Tyr)
c.838A>T (p.Asn280Tyr)
c.2356A>T (p.Asn786Tyr)
c.1492A>T (p.Asn498Tyr)
11g.118480191A>CCA382826315KMT2Ac.3686A>C (p.Asn1229Thr)
c.1169A>C (p.Asn390Thr)
c.1070A>C (p.Asn357Thr)
c.1394A>C (p.Asn465Thr)
c.568A>C
c.3587A>C (p.Asn1196Thr)
c.839A>C (p.Asn280Thr)
c.2357A>C (p.Asn786Thr)
c.1493A>C (p.Asn498Thr)
11g.118480191A>GCA382826318KMT2Ac.3686A>G (p.Asn1229Ser)
c.1169A>G (p.Asn390Ser)
c.1070A>G (p.Asn357Ser)
c.1394A>G (p.Asn465Ser)
c.568A>G
c.3587A>G (p.Asn1196Ser)
c.839A>G (p.Asn280Ser)
c.2357A>G (p.Asn786Ser)
c.1493A>G (p.Asn498Ser)
11g.118480191A>TCA382826312KMT2Ac.3686A>T (p.Asn1229Ile)
c.1169A>T (p.Asn390Ile)
c.1070A>T (p.Asn357Ile)
c.1394A>T (p.Asn465Ile)
c.568A>T
c.3587A>T (p.Asn1196Ile)
c.839A>T (p.Asn280Ile)
c.2357A>T (p.Asn786Ile)
c.1493A>T (p.Asn498Ile)
11g.118480192T>ACA382826323KMT2Ac.3687T>A (p.Asn1229Lys)
c.1170T>A (p.Asn390Lys)
c.1071T>A (p.Asn357Lys)
c.1395T>A (p.Asn465Lys)
c.569T>A
c.3588T>A (p.Asn1196Lys)
c.840T>A (p.Asn280Lys)
c.2358T>A (p.Asn786Lys)
c.1494T>A (p.Asn498Lys)
11g.118480192T>CCA477088713KMT2Ac.3687T>C (p.Asn1229=)
c.1170T>C (p.Asn390=)
c.1071T>C (p.Asn357=)
c.1395T>C (p.Asn465=)
c.569T>C
c.3588T>C (p.Asn1196=)
c.840T>C (p.Asn280=)
c.2358T>C (p.Asn786=)
c.1494T>C (p.Asn498=)
11g.118480192T>GCA382826320KMT2Ac.3687T>G (p.Asn1229Lys)
c.1170T>G (p.Asn390Lys)
c.1071T>G (p.Asn357Lys)
c.1395T>G (p.Asn465Lys)
c.569T>G
c.3588T>G (p.Asn1196Lys)
c.840T>G (p.Asn280Lys)
c.2358T>G (p.Asn786Lys)
c.1494T>G (p.Asn498Lys)
11g.118480193C>ACA382826326KMT2Ac.3688C>A (p.Leu1230Ile)
c.1171C>A (p.Leu391Ile)
c.1072C>A (p.Leu358Ile)
c.1396C>A (p.Leu466Ile)
c.570C>A
c.3589C>A (p.Leu1197Ile)
c.841C>A (p.Leu281Ile)
c.2359C>A (p.Leu787Ile)
c.1495C>A (p.Leu499Ile)
11g.118480193C>GCA382826329KMT2Ac.3688C>G (p.Leu1230Val)
c.1171C>G (p.Leu391Val)
c.1072C>G (p.Leu358Val)
c.1396C>G (p.Leu466Val)
c.570C>G
c.3589C>G (p.Leu1197Val)
c.841C>G (p.Leu281Val)
c.2359C>G (p.Leu787Val)
c.1495C>G (p.Leu499Val)
11g.118480193C>TCA477088715KMT2Ac.3688C>T (p.Leu1230=)
c.1171C>T (p.Leu391=)
c.1072C>T (p.Leu358=)
c.1396C>T (p.Leu466=)
c.570C>T
c.3589C>T (p.Leu1197=)
c.841C>T (p.Leu281=)
c.2359C>T (p.Leu787=)
c.1495C>T (p.Leu499=)
11g.118480194T>ACA382826333KMT2Ac.3689T>A (p.Leu1230Gln)
c.1172T>A (p.Leu391Gln)
c.1073T>A (p.Leu358Gln)
c.1397T>A (p.Leu466Gln)
c.571T>A
c.3590T>A (p.Leu1197Gln)
c.842T>A (p.Leu281Gln)
c.2360T>A (p.Leu787Gln)
c.1496T>A (p.Leu499Gln)
11g.118480194T>CCA382826336KMT2Ac.3689T>C (p.Leu1230Pro)
c.1172T>C (p.Leu391Pro)
c.1073T>C (p.Leu358Pro)
c.1397T>C (p.Leu466Pro)
c.571T>C
c.3590T>C (p.Leu1197Pro)
c.842T>C (p.Leu281Pro)
c.2360T>C (p.Leu787Pro)
c.1496T>C (p.Leu499Pro)
11g.118480194T>GCA382826338KMT2Ac.3689T>G (p.Leu1230Arg)
c.1172T>G (p.Leu391Arg)
c.1073T>G (p.Leu358Arg)
c.1397T>G (p.Leu466Arg)
c.571T>G
c.3590T>G (p.Leu1197Arg)
c.842T>G (p.Leu281Arg)
c.2360T>G (p.Leu787Arg)
c.1496T>G (p.Leu499Arg)
11g.118480195A>CCA477088717KMT2Ac.3690A>C (p.Leu1230=)
c.1173A>C (p.Leu391=)
c.1074A>C (p.Leu358=)
c.1398A>C (p.Leu466=)
c.572A>C
c.3591A>C (p.Leu1197=)
c.843A>C (p.Leu281=)
c.2361A>C (p.Leu787=)
c.1497A>C (p.Leu499=)
11g.118480195A>GCA477088718KMT2Ac.3690A>G (p.Leu1230=)
c.1173A>G (p.Leu391=)
c.1074A>G (p.Leu358=)
c.1398A>G (p.Leu466=)
c.572A>G
c.3591A>G (p.Leu1197=)
c.843A>G (p.Leu281=)
c.2361A>G (p.Leu787=)
c.1497A>G (p.Leu499=)
11g.118480195A>TCA477088719KMT2Ac.3690A>T (p.Leu1230=)
c.1173A>T (p.Leu391=)
c.1074A>T (p.Leu358=)
c.1398A>T (p.Leu466=)
c.572A>T
c.3591A>T (p.Leu1197=)
c.843A>T (p.Leu281=)
c.2361A>T (p.Leu787=)
c.1497A>T (p.Leu499=)
11g.118480196C>ACA382826341KMT2Ac.3691C>A (p.Gln1231Lys)
c.1174C>A (p.Gln392Lys)
c.1075C>A (p.Gln359Lys)
c.1399C>A (p.Gln467Lys)
c.573C>A
c.3592C>A (p.Gln1198Lys)
c.844C>A (p.Gln282Lys)
c.2362C>A (p.Gln788Lys)
c.1498C>A (p.Gln500Lys)
gnomAD v4
11g.118480196C=CA2003511991KMT2Ac.3691C= (p.Gln1231=)
c.1174C= (p.Gln392=)
c.1075C= (p.Gln359=)
c.1399C= (p.Gln467=)
c.573C=
c.3592C= (p.Gln1198=)
c.844C= (p.Gln282=)
c.2362C= (p.Gln788=)
c.1498C= (p.Gln500=)
11g.118480196C>GCA382826343KMT2Ac.3691C>G (p.Gln1231Glu)
c.1174C>G (p.Gln392Glu)
c.1075C>G (p.Gln359Glu)
c.1399C>G (p.Gln467Glu)
c.573C>G
c.3592C>G (p.Gln1198Glu)
c.844C>G (p.Gln282Glu)
c.2362C>G (p.Gln788Glu)
c.1498C>G (p.Gln500Glu)
11g.118480196C>TCA382826345KMT2Ac.3691C>T (p.Gln1231Ter)
c.1174C>T (p.Gln392Ter)
c.1075C>T (p.Gln359Ter)
c.1399C>T (p.Gln467Ter)
c.573C>T
c.3592C>T (p.Gln1198Ter)
c.844C>T (p.Gln282Ter)
c.2362C>T (p.Gln788Ter)
c.1498C>T (p.Gln500Ter)
ClinVar dbSNP
11g.118480197A=CA2003511998KMT2Ac.3692A= (p.Gln1231=)
c.1175A= (p.Gln392=)
c.1076A= (p.Gln359=)
c.1400A= (p.Gln467=)
c.574A=
c.3593A= (p.Gln1198=)
c.845A= (p.Gln282=)
c.2363A= (p.Gln788=)
c.1499A= (p.Gln500=)
11g.118480197A>CCA229527109KMT2Ac.3692A>C (p.Gln1231Pro)
c.1175A>C (p.Gln392Pro)
c.1076A>C (p.Gln359Pro)
c.1400A>C (p.Gln467Pro)
c.574A>C
c.3593A>C (p.Gln1198Pro)
c.845A>C (p.Gln282Pro)
c.2363A>C (p.Gln788Pro)
c.1499A>C (p.Gln500Pro)
dbSNP
11g.118480197A>GCA382826351KMT2Ac.3692A>G (p.Gln1231Arg)
c.1175A>G (p.Gln392Arg)
c.1076A>G (p.Gln359Arg)
c.1400A>G (p.Gln467Arg)
c.574A>G
c.3593A>G (p.Gln1198Arg)
c.845A>G (p.Gln282Arg)
c.2363A>G (p.Gln788Arg)
c.1499A>G (p.Gln500Arg)
11g.118480197A>TCA382826354KMT2Ac.3692A>T (p.Gln1231Leu)
c.1175A>T (p.Gln392Leu)
c.1076A>T (p.Gln359Leu)
c.1400A>T (p.Gln467Leu)
c.574A>T
c.3593A>T (p.Gln1198Leu)
c.845A>T (p.Gln282Leu)
c.2363A>T (p.Gln788Leu)
c.1499A>T (p.Gln500Leu)
11g.118480198A=CA2003512000KMT2Ac.3693A= (p.Gln1231=)
c.1176A= (p.Gln392=)
c.1077A= (p.Gln359=)
c.1401A= (p.Gln467=)
c.575A=
c.3594A= (p.Gln1198=)
c.846A= (p.Gln282=)
c.2364A= (p.Gln788=)
c.1500A= (p.Gln500=)
11g.118480198A>CCA382826359KMT2Ac.3693A>C (p.Gln1231His)
c.1176A>C (p.Gln392His)
c.1077A>C (p.Gln359His)
c.1401A>C (p.Gln467His)
c.575A>C
c.3594A>C (p.Gln1198His)
c.846A>C (p.Gln282His)
c.2364A>C (p.Gln788His)
c.1500A>C (p.Gln500His)
11g.118480198A>GCA229527115KMT2Ac.3693A>G (p.Gln1231=)
c.1176A>G (p.Gln392=)
c.1077A>G (p.Gln359=)
c.1401A>G (p.Gln467=)
c.575A>G
c.3594A>G (p.Gln1198=)
c.846A>G (p.Gln282=)
c.2364A>G (p.Gln788=)
c.1500A>G (p.Gln500=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480198A>TCA382826357KMT2Ac.3693A>T (p.Gln1231His)
c.1176A>T (p.Gln392His)
c.1077A>T (p.Gln359His)
c.1401A>T (p.Gln467His)
c.575A>T
c.3594A>T (p.Gln1198His)
c.846A>T (p.Gln282His)
c.2364A>T (p.Gln788His)
c.1500A>T (p.Gln500His)
11g.118480199T>ACA382826363KMT2Ac.3694T>A (p.Trp1232Arg)
c.1177T>A (p.Trp393Arg)
c.1078T>A (p.Trp360Arg)
c.1402T>A (p.Trp468Arg)
c.576T>A
c.3595T>A (p.Trp1199Arg)
c.847T>A (p.Trp283Arg)
c.2365T>A (p.Trp789Arg)
c.1501T>A (p.Trp501Arg)
11g.118480199T>CCA382826365KMT2Ac.3694T>C (p.Trp1232Arg)
c.1177T>C (p.Trp393Arg)
c.1078T>C (p.Trp360Arg)
c.1402T>C (p.Trp468Arg)
c.576T>C
c.3595T>C (p.Trp1199Arg)
c.847T>C (p.Trp283Arg)
c.2365T>C (p.Trp789Arg)
c.1501T>C (p.Trp501Arg)
dbSNP gnomAD v3 gnomAD v4
11g.118480199T>GCA382826369KMT2Ac.3694T>G (p.Trp1232Gly)
c.1177T>G (p.Trp393Gly)
c.1078T>G (p.Trp360Gly)
c.1402T>G (p.Trp468Gly)
c.576T>G
c.3595T>G (p.Trp1199Gly)
c.847T>G (p.Trp283Gly)
c.2365T>G (p.Trp789Gly)
c.1501T>G (p.Trp501Gly)
11g.118480199T=CA2003512003KMT2Ac.3694T= (p.Trp1232=)
c.1177T= (p.Trp393=)
c.1078T= (p.Trp360=)
c.1402T= (p.Trp468=)
c.576T=
c.3595T= (p.Trp1199=)
c.847T= (p.Trp283=)
c.2365T= (p.Trp789=)
c.1501T= (p.Trp501=)
11g.118480200G>ACA382826372KMT2Ac.3695G>A (p.Trp1232Ter)
c.1178G>A (p.Trp393Ter)
c.1079G>A (p.Trp360Ter)
c.1403G>A (p.Trp468Ter)
c.577G>A
c.3596G>A (p.Trp1199Ter)
c.848G>A (p.Trp283Ter)
c.2366G>A (p.Trp789Ter)
c.1502G>A (p.Trp501Ter)
11g.118480200G>CCA382826375KMT2Ac.3695G>C (p.Trp1232Ser)
c.1178G>C (p.Trp393Ser)
c.1079G>C (p.Trp360Ser)
c.1403G>C (p.Trp468Ser)
c.577G>C
c.3596G>C (p.Trp1199Ser)
c.848G>C (p.Trp283Ser)
c.2366G>C (p.Trp789Ser)
c.1502G>C (p.Trp501Ser)
11g.118480200G>TCA382826377KMT2Ac.3695G>T (p.Trp1232Leu)
c.1178G>T (p.Trp393Leu)
c.1079G>T (p.Trp360Leu)
c.1403G>T (p.Trp468Leu)
c.577G>T
c.3596G>T (p.Trp1199Leu)
c.848G>T (p.Trp283Leu)
c.2366G>T (p.Trp789Leu)
c.1502G>T (p.Trp501Leu)
11g.118480201G>ACA382826380KMT2Ac.3696G>A (p.Trp1232Ter)
c.1179G>A (p.Trp393Ter)
c.1080G>A (p.Trp360Ter)
c.1404G>A (p.Trp468Ter)
c.578G>A
c.3597G>A (p.Trp1199Ter)
c.849G>A (p.Trp283Ter)
c.2367G>A (p.Trp789Ter)
c.1503G>A (p.Trp501Ter)
11g.118480201G>CCA382826381KMT2Ac.3696G>C (p.Trp1232Cys)
c.1179G>C (p.Trp393Cys)
c.1080G>C (p.Trp360Cys)
c.1404G>C (p.Trp468Cys)
c.578G>C
c.3597G>C (p.Trp1199Cys)
c.849G>C (p.Trp283Cys)
c.2367G>C (p.Trp789Cys)
c.1503G>C (p.Trp501Cys)
11g.118480201G>TCA382826383KMT2Ac.3696G>T (p.Trp1232Cys)
c.1179G>T (p.Trp393Cys)
c.1080G>T (p.Trp360Cys)
c.1404G>T (p.Trp468Cys)
c.578G>T
c.3597G>T (p.Trp1199Cys)
c.849G>T (p.Trp283Cys)
c.2367G>T (p.Trp789Cys)
c.1503G>T (p.Trp501Cys)
11g.118480202A>CCA382826385KMT2Ac.3697A>C (p.Met1233Leu)
c.1180A>C (p.Met394Leu)
c.1081A>C (p.Met361Leu)
c.1405A>C (p.Met469Leu)
c.579A>C
c.3598A>C (p.Met1200Leu)
c.850A>C (p.Met284Leu)
c.2368A>C (p.Met790Leu)
c.1504A>C (p.Met502Leu)
11g.118480202A>GCA382826388KMT2Ac.3697A>G (p.Met1233Val)
c.1180A>G (p.Met394Val)
c.1081A>G (p.Met361Val)
c.1405A>G (p.Met469Val)
c.579A>G
c.3598A>G (p.Met1200Val)
c.850A>G (p.Met284Val)
c.2368A>G (p.Met790Val)
c.1504A>G (p.Met502Val)
11g.118480202A>TCA382826390KMT2Ac.3697A>T (p.Met1233Leu)
c.1180A>T (p.Met394Leu)
c.1081A>T (p.Met361Leu)
c.1405A>T (p.Met469Leu)
c.579A>T
c.3598A>T (p.Met1200Leu)
c.850A>T (p.Met284Leu)
c.2368A>T (p.Met790Leu)
c.1504A>T (p.Met502Leu)
11g.118480203T>ACA382826394KMT2Ac.3698T>A (p.Met1233Lys)
c.1181T>A (p.Met394Lys)
c.1082T>A (p.Met361Lys)
c.1406T>A (p.Met469Lys)
c.580T>A
c.3599T>A (p.Met1200Lys)
c.851T>A (p.Met284Lys)
c.2369T>A (p.Met790Lys)
c.1505T>A (p.Met502Lys)
11g.118480203T>CCA382826396KMT2Ac.3698T>C (p.Met1233Thr)
c.1181T>C (p.Met394Thr)
c.1082T>C (p.Met361Thr)
c.1406T>C (p.Met469Thr)
c.580T>C
c.3599T>C (p.Met1200Thr)
c.851T>C (p.Met284Thr)
c.2369T>C (p.Met790Thr)
c.1505T>C (p.Met502Thr)
11g.118480203T>GCA382826392KMT2Ac.3698T>G (p.Met1233Arg)
c.1181T>G (p.Met394Arg)
c.1082T>G (p.Met361Arg)
c.1406T>G (p.Met469Arg)
c.580T>G
c.3599T>G (p.Met1200Arg)
c.851T>G (p.Met284Arg)
c.2369T>G (p.Met790Arg)
c.1505T>G (p.Met502Arg)
11g.118480204G>ACA382826399KMT2Ac.3699G>A (p.Met1233Ile)
c.1182G>A (p.Met394Ile)
c.1083G>A (p.Met361Ile)
c.1407G>A (p.Met469Ile)
c.581G>A
c.3600G>A (p.Met1200Ile)
c.852G>A (p.Met284Ile)
c.2370G>A (p.Met790Ile)
c.1506G>A (p.Met502Ile)
11g.118480204G>CCA382826401KMT2Ac.3699G>C (p.Met1233Ile)
c.1182G>C (p.Met394Ile)
c.1083G>C (p.Met361Ile)
c.1407G>C (p.Met469Ile)
c.581G>C
c.3600G>C (p.Met1200Ile)
c.852G>C (p.Met284Ile)
c.2370G>C (p.Met790Ile)
c.1506G>C (p.Met502Ile)
11g.118480204G>TCA382826403KMT2Ac.3699G>T (p.Met1233Ile)
c.1182G>T (p.Met394Ile)
c.1083G>T (p.Met361Ile)
c.1407G>T (p.Met469Ile)
c.581G>T
c.3600G>T (p.Met1200Ile)
c.852G>T (p.Met284Ile)
c.2370G>T (p.Met790Ile)
c.1506G>T (p.Met502Ile)
11g.118480205C>ACA382826404KMT2Ac.3700C>A (p.Pro1234Thr)
c.1183C>A (p.Pro395Thr)
c.1084C>A (p.Pro362Thr)
c.1408C>A (p.Pro470Thr)
c.582C>A
c.3601C>A (p.Pro1201Thr)
c.853C>A (p.Pro285Thr)
c.2371C>A (p.Pro791Thr)
c.1507C>A (p.Pro503Thr)
gnomAD v4
11g.118480205C=CA2003512005KMT2Ac.3700C= (p.Pro1234=)
c.1183C= (p.Pro395=)
c.1084C= (p.Pro362=)
c.1408C= (p.Pro470=)
c.582C=
c.3601C= (p.Pro1201=)
c.853C= (p.Pro285=)
c.2371C= (p.Pro791=)
c.1507C= (p.Pro503=)
11g.118480205C>GCA6303682KMT2Ac.3700C>G (p.Pro1234Ala)
c.1183C>G (p.Pro395Ala)
c.1084C>G (p.Pro362Ala)
c.1408C>G (p.Pro470Ala)
c.582C>G
c.3601C>G (p.Pro1201Ala)
c.853C>G (p.Pro285Ala)
c.2371C>G (p.Pro791Ala)
c.1507C>G (p.Pro503Ala)
dbSNP ExAC gnomAD v2
11g.118480205C>TCA382826405KMT2Ac.3700C>T (p.Pro1234Ser)
c.1183C>T (p.Pro395Ser)
c.1084C>T (p.Pro362Ser)
c.1408C>T (p.Pro470Ser)
c.582C>T
c.3601C>T (p.Pro1201Ser)
c.853C>T (p.Pro285Ser)
c.2371C>T (p.Pro791Ser)
c.1507C>T (p.Pro503Ser)
11g.118480206C>ACA382826406KMT2Ac.3701C>A (p.Pro1234His)
c.1184C>A (p.Pro395His)
c.1085C>A (p.Pro362His)
c.1409C>A (p.Pro470His)
c.583C>A
c.3602C>A (p.Pro1201His)
c.854C>A (p.Pro285His)
c.2372C>A (p.Pro791His)
c.1508C>A (p.Pro503His)
11g.118480206C>GCA382826407KMT2Ac.3701C>G (p.Pro1234Arg)
c.1184C>G (p.Pro395Arg)
c.1085C>G (p.Pro362Arg)
c.1409C>G (p.Pro470Arg)
c.583C>G
c.3602C>G (p.Pro1201Arg)
c.854C>G (p.Pro285Arg)
c.2372C>G (p.Pro791Arg)
c.1508C>G (p.Pro503Arg)
11g.118480206C>TCA382826408KMT2Ac.3701C>T (p.Pro1234Leu)
c.1184C>T (p.Pro395Leu)
c.1085C>T (p.Pro362Leu)
c.1409C>T (p.Pro470Leu)
c.583C>T
c.3602C>T (p.Pro1201Leu)
c.854C>T (p.Pro285Leu)
c.2372C>T (p.Pro791Leu)
c.1508C>T (p.Pro503Leu)
11g.118480207T>ACA477088728KMT2Ac.3702T>A (p.Pro1234=)
c.1185T>A (p.Pro395=)
c.1086T>A (p.Pro362=)
c.1410T>A (p.Pro470=)
c.584T>A
c.3603T>A (p.Pro1201=)
c.855T>A (p.Pro285=)
c.2373T>A (p.Pro791=)
c.1509T>A (p.Pro503=)
11g.118480207T>CCA477088730KMT2Ac.3702T>C (p.Pro1234=)
c.1185T>C (p.Pro395=)
c.1086T>C (p.Pro362=)
c.1410T>C (p.Pro470=)
c.584T>C
c.3603T>C (p.Pro1201=)
c.855T>C (p.Pro285=)
c.2373T>C (p.Pro791=)
c.1509T>C (p.Pro503=)
11g.118480207T>GCA477088729KMT2Ac.3702T>G (p.Pro1234=)
c.1185T>G (p.Pro395=)
c.1086T>G (p.Pro362=)
c.1410T>G (p.Pro470=)
c.584T>G
c.3603T>G (p.Pro1201=)
c.855T>G (p.Pro285=)
c.2373T>G (p.Pro791=)
c.1509T>G (p.Pro503=)
11g.118480208delCA2695215647KMT2Ac.3703del (p.Ser1235ProfsTer12)
c.1186del (p.Ser396ProfsTer12)
c.1087del (p.Ser363ProfsTer12)
c.1411del (p.Ser471ProfsTer12)
c.585del
c.3604del (p.Ser1202ProfsTer12)
c.856del (p.Ser286ProfsTer12)
c.2374del (p.Ser792ProfsTer12)
c.1510del (p.Ser504ProfsTer12)
11g.118480208T>ACA382826411KMT2Ac.3703T>A (p.Ser1235Thr)
c.1186T>A (p.Ser396Thr)
c.1087T>A (p.Ser363Thr)
c.1411T>A (p.Ser471Thr)
c.585T>A
c.3604T>A (p.Ser1202Thr)
c.856T>A (p.Ser286Thr)
c.2374T>A (p.Ser792Thr)
c.1510T>A (p.Ser504Thr)
11g.118480208T>CCA382826413KMT2Ac.3703T>C (p.Ser1235Pro)
c.1186T>C (p.Ser396Pro)
c.1087T>C (p.Ser363Pro)
c.1411T>C (p.Ser471Pro)
c.585T>C
c.3604T>C (p.Ser1202Pro)
c.856T>C (p.Ser286Pro)
c.2374T>C (p.Ser792Pro)
c.1510T>C (p.Ser504Pro)
11g.118480208T>GCA382826414KMT2Ac.3703T>G (p.Ser1235Ala)
c.1186T>G (p.Ser396Ala)
c.1087T>G (p.Ser363Ala)
c.1411T>G (p.Ser471Ala)
c.585T>G
c.3604T>G (p.Ser1202Ala)
c.856T>G (p.Ser286Ala)
c.2374T>G (p.Ser792Ala)
c.1510T>G (p.Ser504Ala)
11g.118480209C>ACA382826416KMT2Ac.3704C>A (p.Ser1235Tyr)
c.1187C>A (p.Ser396Tyr)
c.1088C>A (p.Ser363Tyr)
c.1412C>A (p.Ser471Tyr)
c.586C>A
c.3605C>A (p.Ser1202Tyr)
c.857C>A (p.Ser286Tyr)
c.2375C>A (p.Ser792Tyr)
c.1511C>A (p.Ser504Tyr)
11g.118480209C=CA2003512008KMT2Ac.3704C= (p.Ser1235=)
c.1187C= (p.Ser396=)
c.1088C= (p.Ser363=)
c.1412C= (p.Ser471=)
c.586C=
c.3605C= (p.Ser1202=)
c.857C= (p.Ser286=)
c.2375C= (p.Ser792=)
c.1511C= (p.Ser504=)
11g.118480209C>GCA6303683KMT2Ac.3704C>G (p.Ser1235Cys)
c.1187C>G (p.Ser396Cys)
c.1088C>G (p.Ser363Cys)
c.1412C>G (p.Ser471Cys)
c.586C>G
c.3605C>G (p.Ser1202Cys)
c.857C>G (p.Ser286Cys)
c.2375C>G (p.Ser792Cys)
c.1511C>G (p.Ser504Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480209C>TCA382826415KMT2Ac.3704C>T (p.Ser1235Phe)
c.1187C>T (p.Ser396Phe)
c.1088C>T (p.Ser363Phe)
c.1412C>T (p.Ser471Phe)
c.586C>T
c.3605C>T (p.Ser1202Phe)
c.857C>T (p.Ser286Phe)
c.2375C>T (p.Ser792Phe)
c.1511C>T (p.Ser504Phe)
11g.118480210C>ACA477088731KMT2Ac.3705C>A (p.Ser1235=)
c.1188C>A (p.Ser396=)
c.1089C>A (p.Ser363=)
c.1413C>A (p.Ser471=)
c.587C>A
c.3606C>A (p.Ser1202=)
c.858C>A (p.Ser286=)
c.2376C>A (p.Ser792=)
c.1512C>A (p.Ser504=)
11g.118480210C>GCA477088732KMT2Ac.3705C>G (p.Ser1235=)
c.1188C>G (p.Ser396=)
c.1089C>G (p.Ser363=)
c.1413C>G (p.Ser471=)
c.587C>G
c.3606C>G (p.Ser1202=)
c.858C>G (p.Ser286=)
c.2376C>G (p.Ser792=)
c.1512C>G (p.Ser504=)
11g.118480210C>TCA477088733KMT2Ac.3705C>T (p.Ser1235=)
c.1188C>T (p.Ser396=)
c.1089C>T (p.Ser363=)
c.1413C>T (p.Ser471=)
c.587C>T
c.3606C>T (p.Ser1202=)
c.858C>T (p.Ser286=)
c.2376C>T (p.Ser792=)
c.1512C>T (p.Ser504=)
11g.118480211A=CA2003512009KMT2Ac.3706A= (p.Lys1236=)
c.1189A= (p.Lys397=)
c.1090A= (p.Lys364=)
c.1414A= (p.Lys472=)
c.588A=
c.3607A= (p.Lys1203=)
c.859A= (p.Lys287=)
c.2377A= (p.Lys793=)
c.1513A= (p.Lys505=)
11g.118480211A>CCA229527124KMT2Ac.3706A>C (p.Lys1236Gln)
c.1189A>C (p.Lys397Gln)
c.1090A>C (p.Lys364Gln)
c.1414A>C (p.Lys472Gln)
c.588A>C
c.3607A>C (p.Lys1203Gln)
c.859A>C (p.Lys287Gln)
c.2377A>C (p.Lys793Gln)
c.1513A>C (p.Lys505Gln)
dbSNP
11g.118480211A>GCA382826418KMT2Ac.3706A>G (p.Lys1236Glu)
c.1189A>G (p.Lys397Glu)
c.1090A>G (p.Lys364Glu)
c.1414A>G (p.Lys472Glu)
c.588A>G
c.3607A>G (p.Lys1203Glu)
c.859A>G (p.Lys287Glu)
c.2377A>G (p.Lys793Glu)
c.1513A>G (p.Lys505Glu)
11g.118480211A>TCA382826427KMT2Ac.3706A>T (p.Lys1236Ter)
c.1189A>T (p.Lys397Ter)
c.1090A>T (p.Lys364Ter)
c.1414A>T (p.Lys472Ter)
c.588A>T
c.3607A>T (p.Lys1203Ter)
c.859A>T (p.Lys287Ter)
c.2377A>T (p.Lys793Ter)
c.1513A>T (p.Lys505Ter)
11g.118480212A>CCA382826430KMT2Ac.3707A>C (p.Lys1236Thr)
c.1190A>C (p.Lys397Thr)
c.1091A>C (p.Lys364Thr)
c.1415A>C (p.Lys472Thr)
c.589A>C
c.3608A>C (p.Lys1203Thr)
c.860A>C (p.Lys287Thr)
c.2378A>C (p.Lys793Thr)
c.1514A>C (p.Lys505Thr)
11g.118480212A>GCA382826432KMT2Ac.3707A>G (p.Lys1236Arg)
c.1190A>G (p.Lys397Arg)
c.1091A>G (p.Lys364Arg)
c.1415A>G (p.Lys472Arg)
c.589A>G
c.3608A>G (p.Lys1203Arg)
c.860A>G (p.Lys287Arg)
c.2378A>G (p.Lys793Arg)
c.1514A>G (p.Lys505Arg)
11g.118480212A>TCA382826434KMT2Ac.3707A>T (p.Lys1236Ile)
c.1190A>T (p.Lys397Ile)
c.1091A>T (p.Lys364Ile)
c.1415A>T (p.Lys472Ile)
c.589A>T
c.3608A>T (p.Lys1203Ile)
c.860A>T (p.Lys287Ile)
c.2378A>T (p.Lys793Ile)
c.1514A>T (p.Lys505Ile)
11g.118480213A>CCA382826445KMT2Ac.3708A>C (p.Lys1236Asn)
c.1191A>C (p.Lys397Asn)
c.1092A>C (p.Lys364Asn)
c.1416A>C (p.Lys472Asn)
c.590A>C
c.3609A>C (p.Lys1203Asn)
c.861A>C (p.Lys287Asn)
c.2379A>C (p.Lys793Asn)
c.1515A>C (p.Lys505Asn)
11g.118480213A>GCA477088736KMT2Ac.3708A>G (p.Lys1236=)
c.1191A>G (p.Lys397=)
c.1092A>G (p.Lys364=)
c.1416A>G (p.Lys472=)
c.590A>G
c.3609A>G (p.Lys1203=)
c.861A>G (p.Lys287=)
c.2379A>G (p.Lys793=)
c.1515A>G (p.Lys505=)
11g.118480213A>TCA382826439KMT2Ac.3708A>T (p.Lys1236Asn)
c.1191A>T (p.Lys397Asn)
c.1092A>T (p.Lys364Asn)
c.1416A>T (p.Lys472Asn)
c.590A>T
c.3609A>T (p.Lys1203Asn)
c.861A>T (p.Lys287Asn)
c.2379A>T (p.Lys793Asn)
c.1515A>T (p.Lys505Asn)
11g.118480214G>ACA382826447KMT2Ac.3709G>A (p.Ala1237Thr)
c.1192G>A (p.Ala398Thr)
c.1093G>A (p.Ala365Thr)
c.1417G>A (p.Ala473Thr)
c.591G>A
c.3610G>A (p.Ala1204Thr)
c.862G>A (p.Ala288Thr)
c.2380G>A (p.Ala794Thr)
c.1516G>A (p.Ala506Thr)
11g.118480214G>CCA382826450KMT2Ac.3709G>C (p.Ala1237Pro)
c.1192G>C (p.Ala398Pro)
c.1093G>C (p.Ala365Pro)
c.1417G>C (p.Ala473Pro)
c.591G>C
c.3610G>C (p.Ala1204Pro)
c.862G>C (p.Ala288Pro)
c.2380G>C (p.Ala794Pro)
c.1516G>C (p.Ala506Pro)
11g.118480214G>TCA382826456KMT2Ac.3709G>T (p.Ala1237Ser)
c.1192G>T (p.Ala398Ser)
c.1093G>T (p.Ala365Ser)
c.1417G>T (p.Ala473Ser)
c.591G>T
c.3610G>T (p.Ala1204Ser)
c.862G>T (p.Ala288Ser)
c.2380G>T (p.Ala794Ser)
c.1516G>T (p.Ala506Ser)
11g.118480215C>ACA382826457KMT2Ac.3710C>A (p.Ala1237Asp)
c.1193C>A (p.Ala398Asp)
c.1094C>A (p.Ala365Asp)
c.1418C>A (p.Ala473Asp)
c.592C>A
c.3611C>A (p.Ala1204Asp)
c.863C>A (p.Ala288Asp)
c.2381C>A (p.Ala794Asp)
c.1517C>A (p.Ala506Asp)
ClinVar gnomAD v4
11g.118480215C=CA2003512011KMT2Ac.3710C= (p.Ala1237=)
c.1193C= (p.Ala398=)
c.1094C= (p.Ala365=)
c.1418C= (p.Ala473=)
c.592C=
c.3611C= (p.Ala1204=)
c.863C= (p.Ala288=)
c.2381C= (p.Ala794=)
c.1517C= (p.Ala506=)
11g.118480215C>GCA382826459KMT2Ac.3710C>G (p.Ala1237Gly)
c.1193C>G (p.Ala398Gly)
c.1094C>G (p.Ala365Gly)
c.1418C>G (p.Ala473Gly)
c.592C>G
c.3611C>G (p.Ala1204Gly)
c.863C>G (p.Ala288Gly)
c.2381C>G (p.Ala794Gly)
c.1517C>G (p.Ala506Gly)
11g.118480215C>TCA382826460KMT2Ac.3710C>T (p.Ala1237Val)
c.1193C>T (p.Ala398Val)
c.1094C>T (p.Ala365Val)
c.1418C>T (p.Ala473Val)
c.592C>T
c.3611C>T (p.Ala1204Val)
c.863C>T (p.Ala288Val)
c.2381C>T (p.Ala794Val)
c.1517C>T (p.Ala506Val)
dbSNP
11g.118480216C>ACA477088737KMT2Ac.3711C>A (p.Ala1237=)
c.1194C>A (p.Ala398=)
c.1095C>A (p.Ala365=)
c.1419C>A (p.Ala473=)
c.593C>A
c.3612C>A (p.Ala1204=)
c.864C>A (p.Ala288=)
c.2382C>A (p.Ala794=)
c.1518C>A (p.Ala506=)
11g.118480216C>GCA477088738KMT2Ac.3711C>G (p.Ala1237=)
c.1194C>G (p.Ala398=)
c.1095C>G (p.Ala365=)
c.1419C>G (p.Ala473=)
c.593C>G
c.3612C>G (p.Ala1204=)
c.864C>G (p.Ala288=)
c.2382C>G (p.Ala794=)
c.1518C>G (p.Ala506=)
11g.118480216C>TCA477088740KMT2Ac.3711C>T (p.Ala1237=)
c.1194C>T (p.Ala398=)
c.1095C>T (p.Ala365=)
c.1419C>T (p.Ala473=)
c.593C>T
c.3612C>T (p.Ala1204=)
c.864C>T (p.Ala288=)
c.2382C>T (p.Ala794=)
c.1518C>T (p.Ala506=)
11g.118480216_118480220delinsTCA2695215648KMT2Ac.3711_3715delinsT (p.Tyr1238CysfsTer8)
c.1194_1198delinsT (p.Tyr399CysfsTer8)
c.1095_1099delinsT (p.Tyr366CysfsTer8)
c.1419_1423delinsT (p.Tyr474CysfsTer8)
c.593_597delinsT
c.3612_3616delinsT (p.Tyr1205CysfsTer8)
c.864_868delinsT (p.Tyr289CysfsTer8)
c.2382_2386delinsT (p.Tyr795CysfsTer8)
c.1518_1522delinsT (p.Tyr507CysfsTer8)
11g.118480217T>ACA382826465KMT2Ac.3712T>A (p.Tyr1238Asn)
c.1195T>A (p.Tyr399Asn)
c.1096T>A (p.Tyr366Asn)
c.1420T>A (p.Tyr474Asn)
c.594T>A
c.3613T>A (p.Tyr1205Asn)
c.865T>A (p.Tyr289Asn)
c.2383T>A (p.Tyr795Asn)
c.1519T>A (p.Tyr507Asn)
11g.118480217T>CCA229527130KMT2Ac.3712T>C (p.Tyr1238His)
c.1195T>C (p.Tyr399His)
c.1096T>C (p.Tyr366His)
c.1420T>C (p.Tyr474His)
c.594T>C
c.3613T>C (p.Tyr1205His)
c.865T>C (p.Tyr289His)
c.2383T>C (p.Tyr795His)
c.1519T>C (p.Tyr507His)
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.118480217T>GCA382826463KMT2Ac.3712T>G (p.Tyr1238Asp)
c.1195T>G (p.Tyr399Asp)
c.1096T>G (p.Tyr366Asp)
c.1420T>G (p.Tyr474Asp)
c.594T>G
c.3613T>G (p.Tyr1205Asp)
c.865T>G (p.Tyr289Asp)
c.2383T>G (p.Tyr795Asp)
c.1519T>G (p.Tyr507Asp)
11g.118480217T=CA2003512024KMT2Ac.3712T= (p.Tyr1238=)
c.1195T= (p.Tyr399=)
c.1096T= (p.Tyr366=)
c.1420T= (p.Tyr474=)
c.594T=
c.3613T= (p.Tyr1205=)
c.865T= (p.Tyr289=)
c.2383T= (p.Tyr795=)
c.1519T= (p.Tyr507=)
11g.118480218A>CCA382826468KMT2Ac.3713A>C (p.Tyr1238Ser)
c.1196A>C (p.Tyr399Ser)
c.1097A>C (p.Tyr366Ser)
c.1421A>C (p.Tyr474Ser)
c.595A>C
c.3614A>C (p.Tyr1205Ser)
c.866A>C (p.Tyr289Ser)
c.2384A>C (p.Tyr795Ser)
c.1520A>C (p.Tyr507Ser)
11g.118480218A>GCA382826473KMT2Ac.3713A>G (p.Tyr1238Cys)
c.1196A>G (p.Tyr399Cys)
c.1097A>G (p.Tyr366Cys)
c.1421A>G (p.Tyr474Cys)
c.595A>G
c.3614A>G (p.Tyr1205Cys)
c.866A>G (p.Tyr289Cys)
c.2384A>G (p.Tyr795Cys)
c.1520A>G (p.Tyr507Cys)
11g.118480218A>TCA382826472KMT2Ac.3713A>T (p.Tyr1238Phe)
c.1196A>T (p.Tyr399Phe)
c.1097A>T (p.Tyr366Phe)
c.1421A>T (p.Tyr474Phe)
c.595A>T
c.3614A>T (p.Tyr1205Phe)
c.866A>T (p.Tyr289Phe)
c.2384A>T (p.Tyr795Phe)
c.1520A>T (p.Tyr507Phe)
11g.118480219C>ACA382826474KMT2Ac.3714C>A (p.Tyr1238Ter)
c.1197C>A (p.Tyr399Ter)
c.1098C>A (p.Tyr366Ter)
c.1422C>A (p.Tyr474Ter)
c.596C>A
c.3615C>A (p.Tyr1205Ter)
c.867C>A (p.Tyr289Ter)
c.2385C>A (p.Tyr795Ter)
c.1521C>A (p.Tyr507Ter)
ClinVar
11g.118480219C=CA2003512030KMT2Ac.3714C= (p.Tyr1238=)
c.1197C= (p.Tyr399=)
c.1098C= (p.Tyr366=)
c.1422C= (p.Tyr474=)
c.596C=
c.3615C= (p.Tyr1205=)
c.867C= (p.Tyr289=)
c.2385C= (p.Tyr795=)
c.1521C= (p.Tyr507=)
11g.118480219C>GCA382826478KMT2Ac.3714C>G (p.Tyr1238Ter)
c.1197C>G (p.Tyr399Ter)
c.1098C>G (p.Tyr366Ter)
c.1422C>G (p.Tyr474Ter)
c.596C>G
c.3615C>G (p.Tyr1205Ter)
c.867C>G (p.Tyr289Ter)
c.2385C>G (p.Tyr795Ter)
c.1521C>G (p.Tyr507Ter)
11g.118480219C>TCA6303684KMT2Ac.3714C>T (p.Tyr1238=)
c.1197C>T (p.Tyr399=)
c.1098C>T (p.Tyr366=)
c.1422C>T (p.Tyr474=)
c.596C>T
c.3615C>T (p.Tyr1205=)
c.867C>T (p.Tyr289=)
c.2385C>T (p.Tyr795=)
c.1521C>T (p.Tyr507=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480220C>ACA382826480KMT2Ac.3715C>A (p.Leu1239Met)
c.1198C>A (p.Leu400Met)
c.1099C>A (p.Leu367Met)
c.1423C>A (p.Leu475Met)
c.597C>A
c.3616C>A (p.Leu1206Met)
c.868C>A (p.Leu290Met)
c.2386C>A (p.Leu796Met)
c.1522C>A (p.Leu508Met)
11g.118480220C=CA2003512034KMT2Ac.3715C= (p.Leu1239=)
c.1198C= (p.Leu400=)
c.1099C= (p.Leu367=)
c.1423C= (p.Leu475=)
c.597C=
c.3616C= (p.Leu1206=)
c.868C= (p.Leu290=)
c.2386C= (p.Leu796=)
c.1522C= (p.Leu508=)
11g.118480220C>GCA382826483KMT2Ac.3715C>G (p.Leu1239Val)
c.1198C>G (p.Leu400Val)
c.1099C>G (p.Leu367Val)
c.1423C>G (p.Leu475Val)
c.597C>G
c.3616C>G (p.Leu1206Val)
c.868C>G (p.Leu290Val)
c.2386C>G (p.Leu796Val)
c.1522C>G (p.Leu508Val)
dbSNP gnomAD v3 gnomAD v4
11g.118480220C>TCA477088742KMT2Ac.3715C>T (p.Leu1239=)
c.1198C>T (p.Leu400=)
c.1099C>T (p.Leu367=)
c.1423C>T (p.Leu475=)
c.597C>T
c.3616C>T (p.Leu1206=)
c.868C>T (p.Leu290=)
c.2386C>T (p.Leu796=)
c.1522C>T (p.Leu508=)
11g.118480221T>ACA382826484KMT2Ac.3716T>A (p.Leu1239Gln)
c.1199T>A (p.Leu400Gln)
c.1100T>A (p.Leu367Gln)
c.1424T>A (p.Leu475Gln)
c.598T>A
c.3617T>A (p.Leu1206Gln)
c.869T>A (p.Leu290Gln)
c.2387T>A (p.Leu796Gln)
c.1523T>A (p.Leu508Gln)
dbSNP
11g.118480221T>CCA382826485KMT2Ac.3716T>C (p.Leu1239Pro)
c.1199T>C (p.Leu400Pro)
c.1100T>C (p.Leu367Pro)
c.1424T>C (p.Leu475Pro)
c.598T>C
c.3617T>C (p.Leu1206Pro)
c.869T>C (p.Leu290Pro)
c.2387T>C (p.Leu796Pro)
c.1523T>C (p.Leu508Pro)
11g.118480221T>GCA382826486KMT2Ac.3716T>G (p.Leu1239Arg)
c.1199T>G (p.Leu400Arg)
c.1100T>G (p.Leu367Arg)
c.1424T>G (p.Leu475Arg)
c.598T>G
c.3617T>G (p.Leu1206Arg)
c.869T>G (p.Leu290Arg)
c.2387T>G (p.Leu796Arg)
c.1523T>G (p.Leu508Arg)
ClinVar dbSNP
11g.118480221T=CA2003512039KMT2Ac.3716T= (p.Leu1239=)
c.1199T= (p.Leu400=)
c.1100T= (p.Leu367=)
c.1424T= (p.Leu475=)
c.598T=
c.3617T= (p.Leu1206=)
c.869T= (p.Leu290=)
c.2387T= (p.Leu796=)
c.1523T= (p.Leu508=)
11g.118480222G>ACA477088745KMT2Ac.3717G>A (p.Leu1239=)
c.1200G>A (p.Leu400=)
c.1101G>A (p.Leu367=)
c.1425G>A (p.Leu475=)
c.599G>A
c.3618G>A (p.Leu1206=)
c.870G>A (p.Leu290=)
c.2388G>A (p.Leu796=)
c.1524G>A (p.Leu508=)
dbSNP gnomAD v4
11g.118480222G>CCA477088743KMT2Ac.3717G>C (p.Leu1239=)
c.1200G>C (p.Leu400=)
c.1101G>C (p.Leu367=)
c.1425G>C (p.Leu475=)
c.599G>C
c.3618G>C (p.Leu1206=)
c.870G>C (p.Leu290=)
c.2388G>C (p.Leu796=)
c.1524G>C (p.Leu508=)
11g.118480222G>TCA477088744KMT2Ac.3717G>T (p.Leu1239=)
c.1200G>T (p.Leu400=)
c.1101G>T (p.Leu367=)
c.1425G>T (p.Leu475=)
c.599G>T
c.3618G>T (p.Leu1206=)
c.870G>T (p.Leu290=)
c.2388G>T (p.Leu796=)
c.1524G>T (p.Leu508=)
11g.118480223C>ACA382826488KMT2Ac.3718C>A (p.Gln1240Lys)
c.1201C>A (p.Gln401Lys)
c.1102C>A (p.Gln368Lys)
c.1426C>A (p.Gln476Lys)
c.600C>A
c.3619C>A (p.Gln1207Lys)
c.871C>A (p.Gln291Lys)
c.2389C>A (p.Gln797Lys)
c.1525C>A (p.Gln509Lys)
11g.118480223C>GCA382826490KMT2Ac.3718C>G (p.Gln1240Glu)
c.1201C>G (p.Gln401Glu)
c.1102C>G (p.Gln368Glu)
c.1426C>G (p.Gln476Glu)
c.600C>G
c.3619C>G (p.Gln1207Glu)
c.871C>G (p.Gln291Glu)
c.2389C>G (p.Gln797Glu)
c.1525C>G (p.Gln509Glu)
dbSNP
11g.118480223C>TCA382826492KMT2Ac.3718C>T (p.Gln1240Ter)
c.1201C>T (p.Gln401Ter)
c.1102C>T (p.Gln368Ter)
c.1426C>T (p.Gln476Ter)
c.600C>T
c.3619C>T (p.Gln1207Ter)
c.871C>T (p.Gln291Ter)
c.2389C>T (p.Gln797Ter)
c.1525C>T (p.Gln509Ter)
COSMIC COSMIC
11g.118480224A>CCA382826495KMT2Ac.3719A>C (p.Gln1240Pro)
c.1202A>C (p.Gln401Pro)
c.1103A>C (p.Gln368Pro)
c.1427A>C (p.Gln476Pro)
c.601A>C
c.3620A>C (p.Gln1207Pro)
c.872A>C (p.Gln291Pro)
c.2390A>C (p.Gln797Pro)
c.1526A>C (p.Gln509Pro)
11g.118480224A>GCA382826497KMT2Ac.3719A>G (p.Gln1240Arg)
c.1202A>G (p.Gln401Arg)
c.1103A>G (p.Gln368Arg)
c.1427A>G (p.Gln476Arg)
c.601A>G
c.3620A>G (p.Gln1207Arg)
c.872A>G (p.Gln291Arg)
c.2390A>G (p.Gln797Arg)
c.1526A>G (p.Gln509Arg)
11g.118480224A>TCA382826498KMT2Ac.3719A>T (p.Gln1240Leu)
c.1202A>T (p.Gln401Leu)
c.1103A>T (p.Gln368Leu)
c.1427A>T (p.Gln476Leu)
c.601A>T
c.3620A>T (p.Gln1207Leu)
c.872A>T (p.Gln291Leu)
c.2390A>T (p.Gln797Leu)
c.1526A>T (p.Gln509Leu)
11g.118480225G>ACA477088746KMT2Ac.3720G>A (p.Gln1240=)
c.1203G>A (p.Gln401=)
c.1104G>A (p.Gln368=)
c.1428G>A (p.Gln476=)
c.602G>A
c.3621G>A (p.Gln1207=)
c.873G>A (p.Gln291=)
c.2391G>A (p.Gln797=)
c.1527G>A (p.Gln509=)
11g.118480225G>CCA382826501KMT2Ac.3720G>C (p.Gln1240His)
c.1203G>C (p.Gln401His)
c.1104G>C (p.Gln368His)
c.1428G>C (p.Gln476His)
c.602G>C
c.3621G>C (p.Gln1207His)
c.873G>C (p.Gln291His)
c.2391G>C (p.Gln797His)
c.1527G>C (p.Gln509His)
11g.118480225G>TCA382826500KMT2Ac.3720G>T (p.Gln1240His)
c.1203G>T (p.Gln401His)
c.1104G>T (p.Gln368His)
c.1428G>T (p.Gln476His)
c.602G>T
c.3621G>T (p.Gln1207His)
c.873G>T (p.Gln291His)
c.2391G>T (p.Gln797His)
c.1527G>T (p.Gln509His)
11g.118480226A=CA2003512041KMT2Ac.3721A= (p.Lys1241=)
c.1204A= (p.Lys402=)
c.1105A= (p.Lys369=)
c.1429A= (p.Lys477=)
c.603A=
c.3622A= (p.Lys1208=)
c.874A= (p.Lys292=)
c.2392A= (p.Lys798=)
c.1528A= (p.Lys510=)
11g.118480226A>CCA382826504KMT2Ac.3721A>C (p.Lys1241Gln)
c.1204A>C (p.Lys402Gln)
c.1105A>C (p.Lys369Gln)
c.1429A>C (p.Lys477Gln)
c.603A>C
c.3622A>C (p.Lys1208Gln)
c.874A>C (p.Lys292Gln)
c.2392A>C (p.Lys798Gln)
c.1528A>C (p.Lys510Gln)
11g.118480226A>GCA382826505KMT2Ac.3721A>G (p.Lys1241Glu)
c.1204A>G (p.Lys402Glu)
c.1105A>G (p.Lys369Glu)
c.1429A>G (p.Lys477Glu)
c.603A>G
c.3622A>G (p.Lys1208Glu)
c.874A>G (p.Lys292Glu)
c.2392A>G (p.Lys798Glu)
c.1528A>G (p.Lys510Glu)
dbSNP gnomAD v4
11g.118480226A>TCA382826506KMT2Ac.3721A>T (p.Lys1241Ter)
c.1204A>T (p.Lys402Ter)
c.1105A>T (p.Lys369Ter)
c.1429A>T (p.Lys477Ter)
c.603A>T
c.3622A>T (p.Lys1208Ter)
c.874A>T (p.Lys292Ter)
c.2392A>T (p.Lys798Ter)
c.1528A>T (p.Lys510Ter)
11g.118480227A>CCA382826508KMT2Ac.3722A>C (p.Lys1241Thr)
c.1205A>C (p.Lys402Thr)
c.1106A>C (p.Lys369Thr)
c.1430A>C (p.Lys477Thr)
c.604A>C
c.3623A>C (p.Lys1208Thr)
c.875A>C (p.Lys292Thr)
c.2393A>C (p.Lys798Thr)
c.1529A>C (p.Lys510Thr)
11g.118480227A>GCA382826510KMT2Ac.3722A>G (p.Lys1241Arg)
c.1205A>G (p.Lys402Arg)
c.1106A>G (p.Lys369Arg)
c.1430A>G (p.Lys477Arg)
c.604A>G
c.3623A>G (p.Lys1208Arg)
c.875A>G (p.Lys292Arg)
c.2393A>G (p.Lys798Arg)
c.1529A>G (p.Lys510Arg)
11g.118480227A>TCA382826512KMT2Ac.3722A>T (p.Lys1241Met)
c.1205A>T (p.Lys402Met)
c.1106A>T (p.Lys369Met)
c.1430A>T (p.Lys477Met)
c.604A>T
c.3623A>T (p.Lys1208Met)
c.875A>T (p.Lys292Met)
c.2393A>T (p.Lys798Met)
c.1529A>T (p.Lys510Met)
11g.118480228G>ACA477088747KMT2Ac.3723G>A (p.Lys1241=)
c.1206G>A (p.Lys402=)
c.1107G>A (p.Lys369=)
c.1431G>A (p.Lys477=)
c.605G>A
c.3624G>A (p.Lys1208=)
c.876G>A (p.Lys292=)
c.2394G>A (p.Lys798=)
c.1530G>A (p.Lys510=)
ClinVar gnomAD v4
11g.118480228G>CCA382826515KMT2Ac.3723G>C (p.Lys1241Asn)
c.1206G>C (p.Lys402Asn)
c.1107G>C (p.Lys369Asn)
c.1431G>C (p.Lys477Asn)
c.605G>C
c.3624G>C (p.Lys1208Asn)
c.876G>C (p.Lys292Asn)
c.2394G>C (p.Lys798Asn)
c.1530G>C (p.Lys510Asn)
11g.118480228G>TCA382826520KMT2Ac.3723G>T (p.Lys1241Asn)
c.1206G>T (p.Lys402Asn)
c.1107G>T (p.Lys369Asn)
c.1431G>T (p.Lys477Asn)
c.605G>T
c.3624G>T (p.Lys1208Asn)
c.876G>T (p.Lys292Asn)
c.2394G>T (p.Lys798Asn)
c.1530G>T (p.Lys510Asn)
11g.118480229C>ACA382826522KMT2Ac.3724C>A (p.Gln1242Lys)
c.1207C>A (p.Gln403Lys)
c.1108C>A (p.Gln370Lys)
c.1432C>A (p.Gln478Lys)
c.606C>A
c.3625C>A (p.Gln1209Lys)
c.877C>A (p.Gln293Lys)
c.2395C>A (p.Gln799Lys)
c.1531C>A (p.Gln511Lys)
11g.118480229C>GCA382826524KMT2Ac.3724C>G (p.Gln1242Glu)
c.1207C>G (p.Gln403Glu)
c.1108C>G (p.Gln370Glu)
c.1432C>G (p.Gln478Glu)
c.606C>G
c.3625C>G (p.Gln1209Glu)
c.877C>G (p.Gln293Glu)
c.2395C>G (p.Gln799Glu)
c.1531C>G (p.Gln511Glu)
11g.118480229C>TCA382826534KMT2Ac.3724C>T (p.Gln1242Ter)
c.1207C>T (p.Gln403Ter)
c.1108C>T (p.Gln370Ter)
c.1432C>T (p.Gln478Ter)
c.606C>T
c.3625C>T (p.Gln1209Ter)
c.877C>T (p.Gln293Ter)
c.2395C>T (p.Gln799Ter)
c.1531C>T (p.Gln511Ter)
11g.118480230A=CA2003512044KMT2Ac.3725A= (p.Gln1242=)
c.1208A= (p.Gln403=)
c.1109A= (p.Gln370=)
c.1433A= (p.Gln478=)
c.607A=
c.3626A= (p.Gln1209=)
c.878A= (p.Gln293=)
c.2396A= (p.Gln799=)
c.1532A= (p.Gln511=)
11g.118480230A>CCA229527134KMT2Ac.3725A>C (p.Gln1242Pro)
c.1208A>C (p.Gln403Pro)
c.1109A>C (p.Gln370Pro)
c.1433A>C (p.Gln478Pro)
c.607A>C
c.3626A>C (p.Gln1209Pro)
c.878A>C (p.Gln293Pro)
c.2396A>C (p.Gln799Pro)
c.1532A>C (p.Gln511Pro)
dbSNP
11g.118480230A>GCA382826547KMT2Ac.3725A>G (p.Gln1242Arg)
c.1208A>G (p.Gln403Arg)
c.1109A>G (p.Gln370Arg)
c.1433A>G (p.Gln478Arg)
c.607A>G
c.3626A>G (p.Gln1209Arg)
c.878A>G (p.Gln293Arg)
c.2396A>G (p.Gln799Arg)
c.1532A>G (p.Gln511Arg)
ClinVar dbSNP
11g.118480230A>TCA382826538KMT2Ac.3725A>T (p.Gln1242Leu)
c.1208A>T (p.Gln403Leu)
c.1109A>T (p.Gln370Leu)
c.1433A>T (p.Gln478Leu)
c.607A>T
c.3626A>T (p.Gln1209Leu)
c.878A>T (p.Gln293Leu)
c.2396A>T (p.Gln799Leu)
c.1532A>T (p.Gln511Leu)
11g.118480231A=CA2003512046KMT2Ac.3726A= (p.Gln1242=)
c.1209A= (p.Gln403=)
c.1110A= (p.Gln370=)
c.1434A= (p.Gln478=)
c.608A=
c.3627A= (p.Gln1209=)
c.879A= (p.Gln293=)
c.2397A= (p.Gln799=)
c.1533A= (p.Gln511=)
11g.118480231A>CCA382826549KMT2Ac.3726A>C (p.Gln1242His)
c.1209A>C (p.Gln403His)
c.1110A>C (p.Gln370His)
c.1434A>C (p.Gln478His)
c.608A>C
c.3627A>C (p.Gln1209His)
c.879A>C (p.Gln293His)
c.2397A>C (p.Gln799His)
c.1533A>C (p.Gln511His)
11g.118480231A>GCA477088748KMT2Ac.3726A>G (p.Gln1242=)
c.1209A>G (p.Gln403=)
c.1110A>G (p.Gln370=)
c.1434A>G (p.Gln478=)
c.608A>G
c.3627A>G (p.Gln1209=)
c.879A>G (p.Gln293=)
c.2397A>G (p.Gln799=)
c.1533A>G (p.Gln511=)
dbSNP
11g.118480231A>TCA382826552KMT2Ac.3726A>T (p.Gln1242His)
c.1209A>T (p.Gln403His)
c.1110A>T (p.Gln370His)
c.1434A>T (p.Gln478His)
c.608A>T
c.3627A>T (p.Gln1209His)
c.879A>T (p.Gln293His)
c.2397A>T (p.Gln799His)
c.1533A>T (p.Gln511His)
11g.118480232G>ACA382826555KMT2Ac.3727G>A (p.Ala1243Thr)
c.1210G>A (p.Ala404Thr)
c.1111G>A (p.Ala371Thr)
c.1435G>A (p.Ala479Thr)
c.609G>A
c.3628G>A (p.Ala1210Thr)
c.880G>A (p.Ala294Thr)
c.2398G>A (p.Ala800Thr)
c.1534G>A (p.Ala512Thr)
11g.118480232G>CCA382826558KMT2Ac.3727G>C (p.Ala1243Pro)
c.1210G>C (p.Ala404Pro)
c.1111G>C (p.Ala371Pro)
c.1435G>C (p.Ala479Pro)
c.609G>C
c.3628G>C (p.Ala1210Pro)
c.880G>C (p.Ala294Pro)
c.2398G>C (p.Ala800Pro)
c.1534G>C (p.Ala512Pro)
11g.118480232G>TCA382826561KMT2Ac.3727G>T (p.Ala1243Ser)
c.1210G>T (p.Ala404Ser)
c.1111G>T (p.Ala371Ser)
c.1435G>T (p.Ala479Ser)
c.609G>T
c.3628G>T (p.Ala1210Ser)
c.880G>T (p.Ala294Ser)
c.2398G>T (p.Ala800Ser)
c.1534G>T (p.Ala512Ser)
11g.118480233_118480239delCA2695215649KMT2Ac.3728_3733+1del
c.1211_1216+1del
c.1112_1117+1del
c.1436_1441+1del
c.610_615+1del
c.3629_3634+1del
c.881_886+1del
c.2399_2404+1del
c.1535_1540+1del
11g.118480233C>ACA382826565KMT2Ac.3728C>A (p.Ala1243Asp)
c.1211C>A (p.Ala404Asp)
c.1112C>A (p.Ala371Asp)
c.1436C>A (p.Ala479Asp)
c.610C>A
c.3629C>A (p.Ala1210Asp)
c.881C>A (p.Ala294Asp)
c.2399C>A (p.Ala800Asp)
c.1535C>A (p.Ala512Asp)
11g.118480233C>GCA382826568KMT2Ac.3728C>G (p.Ala1243Gly)
c.1211C>G (p.Ala404Gly)
c.1112C>G (p.Ala371Gly)
c.1436C>G (p.Ala479Gly)
c.610C>G
c.3629C>G (p.Ala1210Gly)
c.881C>G (p.Ala294Gly)
c.2399C>G (p.Ala800Gly)
c.1535C>G (p.Ala512Gly)
11g.118480233C>TCA382826569KMT2Ac.3728C>T (p.Ala1243Val)
c.1211C>T (p.Ala404Val)
c.1112C>T (p.Ala371Val)
c.1436C>T (p.Ala479Val)
c.610C>T
c.3629C>T (p.Ala1210Val)
c.881C>T (p.Ala294Val)
c.2399C>T (p.Ala800Val)
c.1535C>T (p.Ala512Val)
ClinVar
11g.118480234T>ACA477088749KMT2Ac.3729T>A (p.Ala1243=)
c.1212T>A (p.Ala404=)
c.1113T>A (p.Ala371=)
c.1437T>A (p.Ala479=)
c.611T>A
c.3630T>A (p.Ala1210=)
c.882T>A (p.Ala294=)
c.2400T>A (p.Ala800=)
c.1536T>A (p.Ala512=)
11g.118480234T>CCA477088750KMT2Ac.3729T>C (p.Ala1243=)
c.1212T>C (p.Ala404=)
c.1113T>C (p.Ala371=)
c.1437T>C (p.Ala479=)
c.611T>C
c.3630T>C (p.Ala1210=)
c.882T>C (p.Ala294=)
c.2400T>C (p.Ala800=)
c.1536T>C (p.Ala512=)
gnomAD v4
11g.118480234T>GCA477088751KMT2Ac.3729T>G (p.Ala1243=)
c.1212T>G (p.Ala404=)
c.1113T>G (p.Ala371=)
c.1437T>G (p.Ala479=)
c.611T>G
c.3630T>G (p.Ala1210=)
c.882T>G (p.Ala294=)
c.2400T>G (p.Ala800=)
c.1536T>G (p.Ala512=)
11g.118480235A=CA2003512048KMT2Ac.3730A= (p.Lys1244=)
c.1213A= (p.Lys405=)
c.1114A= (p.Lys372=)
c.1438A= (p.Lys480=)
c.612A=
c.3631A= (p.Lys1211=)
c.883A= (p.Lys295=)
c.2401A= (p.Lys801=)
c.1537A= (p.Lys513=)
11g.118480235A>CCA382826570KMT2Ac.3730A>C (p.Lys1244Gln)
c.1213A>C (p.Lys405Gln)
c.1114A>C (p.Lys372Gln)
c.1438A>C (p.Lys480Gln)
c.612A>C
c.3631A>C (p.Lys1211Gln)
c.883A>C (p.Lys295Gln)
c.2401A>C (p.Lys801Gln)
c.1537A>C (p.Lys513Gln)
dbSNP gnomAD v2 gnomAD v4
11g.118480235A>GCA382826571KMT2Ac.3730A>G (p.Lys1244Glu)
c.1213A>G (p.Lys405Glu)
c.1114A>G (p.Lys372Glu)
c.1438A>G (p.Lys480Glu)
c.612A>G
c.3631A>G (p.Lys1211Glu)
c.883A>G (p.Lys295Glu)
c.2401A>G (p.Lys801Glu)
c.1537A>G (p.Lys513Glu)
11g.118480235A>TCA382826572KMT2Ac.3730A>T (p.Lys1244Ter)
c.1213A>T (p.Lys405Ter)
c.1114A>T (p.Lys372Ter)
c.1438A>T (p.Lys480Ter)
c.612A>T
c.3631A>T (p.Lys1211Ter)
c.883A>T (p.Lys295Ter)
c.2401A>T (p.Lys801Ter)
c.1537A>T (p.Lys513Ter)
11g.118480236A>CCA382826575KMT2Ac.3731A>C (p.Lys1244Thr)
c.1214A>C (p.Lys405Thr)
c.1115A>C (p.Lys372Thr)
c.1439A>C (p.Lys480Thr)
c.613A>C
c.3632A>C (p.Lys1211Thr)
c.884A>C (p.Lys295Thr)
c.2402A>C (p.Lys801Thr)
c.1538A>C (p.Lys513Thr)
11g.118480236A>GCA382826576KMT2Ac.3731A>G (p.Lys1244Arg)
c.1214A>G (p.Lys405Arg)
c.1115A>G (p.Lys372Arg)
c.1439A>G (p.Lys480Arg)
c.613A>G
c.3632A>G (p.Lys1211Arg)
c.884A>G (p.Lys295Arg)
c.2402A>G (p.Lys801Arg)
c.1538A>G (p.Lys513Arg)
ClinVar dbSNP
11g.118480236A>TCA382826577KMT2Ac.3731A>T (p.Lys1244Ile)
c.1214A>T (p.Lys405Ile)
c.1115A>T (p.Lys372Ile)
c.1439A>T (p.Lys480Ile)
c.613A>T
c.3632A>T (p.Lys1211Ile)
c.884A>T (p.Lys295Ile)
c.2402A>T (p.Lys801Ile)
c.1538A>T (p.Lys513Ile)
11g.118480237_118480241delCA2695215650KMT2Ac.3732_3733+3del
c.1215_1216+3del
c.1116_1117+3del
c.1440_1441+3del
c.614_615+3del
c.3633_3634+3del
c.885_886+3del
c.2403_2404+3del
c.1539_1540+3del
11g.118480237A>CCA382826580KMT2Ac.3732A>C (p.Lys1244Asn)
c.1215A>C (p.Lys405Asn)
c.1116A>C (p.Lys372Asn)
c.1440A>C (p.Lys480Asn)
c.614A>C
c.3633A>C (p.Lys1211Asn)
c.885A>C (p.Lys295Asn)
c.2403A>C (p.Lys801Asn)
c.1539A>C (p.Lys513Asn)
11g.118480237A>GCA477088752KMT2Ac.3732A>G (p.Lys1244=)
c.1215A>G (p.Lys405=)
c.1116A>G (p.Lys372=)
c.1440A>G (p.Lys480=)
c.614A>G
c.3633A>G (p.Lys1211=)
c.885A>G (p.Lys295=)
c.2403A>G (p.Lys801=)
c.1539A>G (p.Lys513=)
11g.118480237A>TCA382826582KMT2Ac.3732A>T (p.Lys1244Asn)
c.1215A>T (p.Lys405Asn)
c.1116A>T (p.Lys372Asn)
c.1440A>T (p.Lys480Asn)
c.614A>T
c.3633A>T (p.Lys1211Asn)
c.885A>T (p.Lys295Asn)
c.2403A>T (p.Lys801Asn)
c.1539A>T (p.Lys513Asn)
11g.118480238G>ACA382826585KMT2Ac.3733G>A (p.Ala1245Thr)
c.1216G>A (p.Ala406Thr)
c.1117G>A (p.Ala373Thr)
c.1441G>A (p.Ala481Thr)
c.615G>A
c.3634G>A (p.Ala1212Thr)
c.886G>A (p.Ala296Thr)
c.2404G>A (p.Ala802Thr)
c.1540G>A (p.Ala514Thr)
11g.118480238G>CCA382826586KMT2Ac.3733G>C (p.Ala1245Pro)
c.1216G>C (p.Ala406Pro)
c.1117G>C (p.Ala373Pro)
c.1441G>C (p.Ala481Pro)
c.615G>C
c.3634G>C (p.Ala1212Pro)
c.886G>C (p.Ala296Pro)
c.2404G>C (p.Ala802Pro)
c.1540G>C (p.Ala514Pro)
COSMIC COSMIC
11g.118480238G>TCA382826588KMT2Ac.3733G>T (p.Ala1245Ser)
c.1216G>T (p.Ala406Ser)
c.1117G>T (p.Ala373Ser)
c.1441G>T (p.Ala481Ser)
c.615G>T
c.3634G>T (p.Ala1212Ser)
c.886G>T (p.Ala296Ser)
c.2404G>T (p.Ala802Ser)
c.1540G>T (p.Ala514Ser)
11g.118480239G>ACA382826592KMT2Ac.3733+1G>A (n.3733+1G>A)
c.1216+1G>A (n.1216+1G>A)
c.1117+1G>A (n.1117+1G>A)
c.1441+1G>A (n.1441+1G>A)
c.615+1G>A
c.3634+1G>A (n.3634+1G>A)
c.886+1G>A (n.886+1G>A)
c.2404+1G>A (n.2404+1G>A)
c.1540+1G>A (n.1540+1G>A)
ClinVar dbSNP
11g.118480239G>CCA382826595KMT2Ac.3733+1G>C (n.3733+1G>C)
c.1216+1G>C (n.1216+1G>C)
c.1117+1G>C (n.1117+1G>C)
c.1441+1G>C (n.1441+1G>C)
c.615+1G>C
c.3634+1G>C (n.3634+1G>C)
c.886+1G>C (n.886+1G>C)
c.2404+1G>C (n.2404+1G>C)
c.1540+1G>C (n.1540+1G>C)
11g.118480239G>TCA382826599KMT2Ac.3733+1G>T (n.3733+1G>T)
c.1216+1G>T (n.1216+1G>T)
c.1117+1G>T (n.1117+1G>T)
c.1441+1G>T (n.1441+1G>T)
c.615+1G>T
c.3634+1G>T (n.3634+1G>T)
c.886+1G>T (n.886+1G>T)
c.2404+1G>T (n.2404+1G>T)
c.1540+1G>T (n.1540+1G>T)
gnomAD v4
11g.118480239_118480240insACACA2793815218KMT2Ac.3733+1_3733+2insACA (n.3733+1_3733+2insACA)
c.1216+1_1216+2insACA (n.1216+1_1216+2insACA)
c.1117+1_1117+2insACA (n.1117+1_1117+2insACA)
c.1441+1_1441+2insACA (n.1441+1_1441+2insACA)
c.615+1_615+2insACA
c.3634+1_3634+2insACA (n.3634+1_3634+2insACA)
c.886+1_886+2insACA (n.886+1_886+2insACA)
c.2404+1_2404+2insACA (n.2404+1_2404+2insACA)
c.1540+1_1540+2insACA (n.1540+1_1540+2insACA)
11g.118480240T>ACA382826602KMT2Ac.3733+2T>A (n.3733+2T>A)
c.1216+2T>A (n.1216+2T>A)
c.1117+2T>A (n.1117+2T>A)
c.1441+2T>A (n.1441+2T>A)
c.615+2T>A
c.3634+2T>A (n.3634+2T>A)
c.886+2T>A (n.886+2T>A)
c.2404+2T>A (n.2404+2T>A)
c.1540+2T>A (n.1540+2T>A)
11g.118480240T>CCA382826605KMT2Ac.3733+2T>C (n.3733+2T>C)
c.1216+2T>C (n.1216+2T>C)
c.1117+2T>C (n.1117+2T>C)
c.1441+2T>C (n.1441+2T>C)
c.615+2T>C
c.3634+2T>C (n.3634+2T>C)
c.886+2T>C (n.886+2T>C)
c.2404+2T>C (n.2404+2T>C)
c.1540+2T>C (n.1540+2T>C)
ClinVar dbSNP
11g.118480240T>GCA382826609KMT2Ac.3733+2T>G (n.3733+2T>G)
c.1216+2T>G (n.1216+2T>G)
c.1117+2T>G (n.1117+2T>G)
c.1441+2T>G (n.1441+2T>G)
c.615+2T>G
c.3634+2T>G (n.3634+2T>G)
c.886+2T>G (n.886+2T>G)
c.2404+2T>G (n.2404+2T>G)
c.1540+2T>G (n.1540+2T>G)
COSMIC COSMIC
11g.118480240T=CA2003512051KMT2Ac.3733+2T= (n.3733+2T=)
c.1216+2T= (n.1216+2T=)
c.1117+2T= (n.1117+2T=)
c.1441+2T= (n.1441+2T=)
c.615+2T=
c.3634+2T= (n.3634+2T=)
c.886+2T= (n.886+2T=)
c.2404+2T= (n.2404+2T=)
c.1540+2T= (n.1540+2T=)
11g.118480241A>GCA2574995337KMT2Ac.3733+3A>G (n.3733+3A>G)
c.1216+3A>G (n.1216+3A>G)
c.1117+3A>G (n.1117+3A>G)
c.1441+3A>G (n.1441+3A>G)
c.615+3A>G
c.3634+3A>G (n.3634+3A>G)
c.886+3A>G (n.886+3A>G)
c.2404+3A>G (n.2404+3A>G)
c.1540+3A>G (n.1540+3A>G)
11g.118480242G>ACA6303685KMT2Ac.3733+4G>A (n.3733+4G>A)
c.1216+4G>A (n.1216+4G>A)
c.1117+4G>A (n.1117+4G>A)
c.1441+4G>A (n.1441+4G>A)
c.615+4G>A
c.3634+4G>A (n.3634+4G>A)
c.886+4G>A (n.886+4G>A)
c.2404+4G>A (n.2404+4G>A)
c.1540+4G>A (n.1540+4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480242G>CCA2573053433KMT2Ac.3733+4G>C (n.3733+4G>C)
c.1216+4G>C (n.1216+4G>C)
c.1117+4G>C (n.1117+4G>C)
c.1441+4G>C (n.1441+4G>C)
c.615+4G>C
c.3634+4G>C (n.3634+4G>C)
c.886+4G>C (n.886+4G>C)
c.2404+4G>C (n.2404+4G>C)
c.1540+4G>C (n.1540+4G>C)
ClinVar dbSNP
11g.118480242G=CA2003512054KMT2Ac.3733+4G= (n.3733+4G=)
c.1216+4G= (n.1216+4G=)
c.1117+4G= (n.1117+4G=)
c.1441+4G= (n.1441+4G=)
c.615+4G=
c.3634+4G= (n.3634+4G=)
c.886+4G= (n.886+4G=)
c.2404+4G= (n.2404+4G=)
c.1540+4G= (n.1540+4G=)
11g.118480242G>TCA2616261694KMT2Ac.3733+4G>T (n.3733+4G>T)
c.1216+4G>T (n.1216+4G>T)
c.1117+4G>T (n.1117+4G>T)
c.1441+4G>T (n.1441+4G>T)
c.615+4G>T
c.3634+4G>T (n.3634+4G>T)
c.886+4G>T (n.886+4G>T)
c.2404+4G>T (n.2404+4G>T)
c.1540+4G>T (n.1540+4G>T)
gnomAD v4
11g.118480244G=CA2003512056KMT2Ac.3733+6G= (n.3733+6G=)
c.1216+6G= (n.1216+6G=)
c.1117+6G= (n.1117+6G=)
c.1441+6G= (n.1441+6G=)
c.615+6G=
c.3634+6G= (n.3634+6G=)
c.886+6G= (n.886+6G=)
c.2404+6G= (n.2404+6G=)
c.1540+6G= (n.1540+6G=)
11g.118480245T>CCA2616261695KMT2Ac.3733+7T>C (n.3733+7T>C)
c.1216+7T>C (n.1216+7T>C)
c.1117+7T>C (n.1117+7T>C)
c.1441+7T>C (n.1441+7T>C)
c.615+7T>C
c.3634+7T>C (n.3634+7T>C)
c.886+7T>C (n.886+7T>C)
c.2404+7T>C (n.2404+7T>C)
c.1540+7T>C (n.1540+7T>C)
gnomAD v4
11g.118480246dupCA6303686KMT2Ac.3733+8dup (n.3733+8dup)
c.1216+8dup (n.1216+8dup)
c.1117+8dup (n.1117+8dup)
c.1441+8dup (n.1441+8dup)
c.615+8dup
c.3634+8dup (n.3634+8dup)
c.886+8dup (n.886+8dup)
c.2404+8dup (n.2404+8dup)
c.1540+8dup (n.1540+8dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480247G>ACA672347128KMT2Ac.3733+9G>A (n.3733+9G>A)
c.1216+9G>A (n.1216+9G>A)
c.1117+9G>A (n.1117+9G>A)
c.1441+9G>A (n.1441+9G>A)
c.615+9G>A
c.3634+9G>A (n.3634+9G>A)
c.886+9G>A (n.886+9G>A)
c.2404+9G>A (n.2404+9G>A)
c.1540+9G>A (n.1540+9G>A)
dbSNP gnomAD v3 gnomAD v4
11g.118480247G>CCA2739271730KMT2Ac.3733+9G>C (n.3733+9G>C)
c.1216+9G>C (n.1216+9G>C)
c.1117+9G>C (n.1117+9G>C)
c.1441+9G>C (n.1441+9G>C)
c.615+9G>C
c.3634+9G>C (n.3634+9G>C)
c.886+9G>C (n.886+9G>C)
c.2404+9G>C (n.2404+9G>C)
c.1540+9G>C (n.1540+9G>C)
ClinVar
11g.118480247G=CA2003512058KMT2Ac.3733+9G= (n.3733+9G=)
c.1216+9G= (n.1216+9G=)
c.1117+9G= (n.1117+9G=)
c.1441+9G= (n.1441+9G=)
c.615+9G=
c.3634+9G= (n.3634+9G=)
c.886+9G= (n.886+9G=)
c.2404+9G= (n.2404+9G=)
c.1540+9G= (n.1540+9G=)
11g.118480248T>ACA2616261696KMT2Ac.3733+10T>A (n.3733+10T>A)
c.1216+10T>A (n.1216+10T>A)
c.1117+10T>A (n.1117+10T>A)
c.1441+10T>A (n.1441+10T>A)
c.615+10T>A
c.3634+10T>A (n.3634+10T>A)
c.886+10T>A (n.886+10T>A)
c.2404+10T>A (n.2404+10T>A)
c.1540+10T>A (n.1540+10T>A)
gnomAD v4
11g.118480250A=CA2003512059KMT2Ac.3733+12A= (n.3733+12A=)
c.1216+12A= (n.1216+12A=)
c.1117+12A= (n.1117+12A=)
c.1441+12A= (n.1441+12A=)
c.615+12A=
c.3634+12A= (n.3634+12A=)
c.886+12A= (n.886+12A=)
c.2404+12A= (n.2404+12A=)
c.1540+12A= (n.1540+12A=)
11g.118480250A>GCA2003512061KMT2Ac.3733+12A>G (n.3733+12A>G)
c.1216+12A>G (n.1216+12A>G)
c.1117+12A>G (n.1117+12A>G)
c.1441+12A>G (n.1441+12A>G)
c.615+12A>G
c.3634+12A>G (n.3634+12A>G)
c.886+12A>G (n.886+12A>G)
c.2404+12A>G (n.2404+12A>G)
c.1540+12A>G (n.1540+12A>G)
dbSNP
11g.118480254delCA2616261697KMT2Ac.3733+16del (n.3733+16del)
c.1216+16del (n.1216+16del)
c.1117+16del (n.1117+16del)
c.1441+16del (n.1441+16del)
c.615+16del
c.3634+16del (n.3634+16del)
c.886+16del (n.886+16del)
c.2404+16del (n.2404+16del)
c.1540+16del (n.1540+16del)
dbSNP gnomAD v4
11g.118480251A>CCA2739271731KMT2Ac.3733+13A>C (n.3733+13A>C)
c.1216+13A>C (n.1216+13A>C)
c.1117+13A>C (n.1117+13A>C)
c.1441+13A>C (n.1441+13A>C)
c.615+13A>C
c.3634+13A>C (n.3634+13A>C)
c.886+13A>C (n.886+13A>C)
c.2404+13A>C (n.2404+13A>C)
c.1540+13A>C (n.1540+13A>C)
ClinVar
11g.118480254A>GCA2616261698KMT2Ac.3733+16A>G (n.3733+16A>G)
c.1216+16A>G (n.1216+16A>G)
c.1117+16A>G (n.1117+16A>G)
c.1441+16A>G (n.1441+16A>G)
c.615+16A>G
c.3634+16A>G (n.3634+16A>G)
c.886+16A>G (n.886+16A>G)
c.2404+16A>G (n.2404+16A>G)
c.1540+16A>G (n.1540+16A>G)
dbSNP gnomAD v4
11g.118480255G>CCA6303688KMT2Ac.3733+17G>C (n.3733+17G>C)
c.1216+17G>C (n.1216+17G>C)
c.1117+17G>C (n.1117+17G>C)
c.1441+17G>C (n.1441+17G>C)
c.615+17G>C
c.3634+17G>C (n.3634+17G>C)
c.886+17G>C (n.886+17G>C)
c.2404+17G>C (n.2404+17G>C)
c.1540+17G>C (n.1540+17G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480255G=CA2003512063KMT2Ac.3733+17G= (n.3733+17G=)
c.1216+17G= (n.1216+17G=)
c.1117+17G= (n.1117+17G=)
c.1441+17G= (n.1441+17G=)
c.615+17G=
c.3634+17G= (n.3634+17G=)
c.886+17G= (n.886+17G=)
c.2404+17G= (n.2404+17G=)
c.1540+17G= (n.1540+17G=)
11g.118480255G>TCA6303687KMT2Ac.3733+17G>T (n.3733+17G>T)
c.1216+17G>T (n.1216+17G>T)
c.1117+17G>T (n.1117+17G>T)
c.1441+17G>T (n.1441+17G>T)
c.615+17G>T
c.3634+17G>T (n.3634+17G>T)
c.886+17G>T (n.886+17G>T)
c.2404+17G>T (n.2404+17G>T)
c.1540+17G>T (n.1540+17G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480256delCA2574995338KMT2Ac.3733+18del (n.3733+18del)
c.1216+18del (n.1216+18del)
c.1117+18del (n.1117+18del)
c.1441+18del (n.1441+18del)
c.615+18del
c.3634+18del (n.3634+18del)
c.886+18del (n.886+18del)
c.2404+18del (n.2404+18del)
c.1540+18del (n.1540+18del)
11g.118480256G>ACA602140267KMT2Ac.3733+18G>A (n.3733+18G>A)
c.1216+18G>A (n.1216+18G>A)
c.1117+18G>A (n.1117+18G>A)
c.1441+18G>A (n.1441+18G>A)
c.615+18G>A
c.3634+18G>A (n.3634+18G>A)
c.886+18G>A (n.886+18G>A)
c.2404+18G>A (n.2404+18G>A)
c.1540+18G>A (n.1540+18G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480256G=CA2003512065KMT2Ac.3733+18G= (n.3733+18G=)
c.1216+18G= (n.1216+18G=)
c.1117+18G= (n.1117+18G=)
c.1441+18G= (n.1441+18G=)
c.615+18G=
c.3634+18G= (n.3634+18G=)
c.886+18G= (n.886+18G=)
c.2404+18G= (n.2404+18G=)
c.1540+18G= (n.1540+18G=)
11g.118480258C>ACA2616261699KMT2Ac.3733+20C>A (n.3733+20C>A)
c.1216+20C>A (n.1216+20C>A)
c.1117+20C>A (n.1117+20C>A)
c.1441+20C>A (n.1441+20C>A)
c.615+20C>A
c.3634+20C>A (n.3634+20C>A)
c.886+20C>A (n.886+20C>A)
c.2404+20C>A (n.2404+20C>A)
c.1540+20C>A (n.1540+20C>A)
gnomAD v4
11g.118480258C=CA2003512067KMT2Ac.3733+20C= (n.3733+20C=)
c.1216+20C= (n.1216+20C=)
c.1117+20C= (n.1117+20C=)
c.1441+20C= (n.1441+20C=)
c.615+20C=
c.3634+20C= (n.3634+20C=)
c.886+20C= (n.886+20C=)
c.2404+20C= (n.2404+20C=)
c.1540+20C= (n.1540+20C=)
11g.118480258C>GCA6303689KMT2Ac.3733+20C>G (n.3733+20C>G)
c.1216+20C>G (n.1216+20C>G)
c.1117+20C>G (n.1117+20C>G)
c.1441+20C>G (n.1441+20C>G)
c.615+20C>G
c.3634+20C>G (n.3634+20C>G)
c.886+20C>G (n.886+20C>G)
c.2404+20C>G (n.2404+20C>G)
c.1540+20C>G (n.1540+20C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480259T>ACA2725034736KMT2Ac.3733+21T>A (n.3733+21T>A)
c.1216+21T>A (n.1216+21T>A)
c.1117+21T>A (n.1117+21T>A)
c.1441+21T>A (n.1441+21T>A)
c.615+21T>A
c.3634+21T>A (n.3634+21T>A)
c.886+21T>A (n.886+21T>A)
c.2404+21T>A (n.2404+21T>A)
c.1540+21T>A (n.1540+21T>A)
dbSNP
11g.118480260_118480261delinsTCCA2003512069KMT2Ac.3733+22_3733+23delinsTC (n.3733+22_3733+23delinsTC)
c.1216+22_1216+23delinsTC (n.1216+22_1216+23delinsTC)
c.1117+22_1117+23delinsTC (n.1117+22_1117+23delinsTC)
c.1441+22_1441+23delinsTC (n.1441+22_1441+23delinsTC)
c.615+22_615+23delinsTC
c.3634+22_3634+23delinsTC (n.3634+22_3634+23delinsTC)
c.886+22_886+23delinsTC (n.886+22_886+23delinsTC)
c.2404+22_2404+23delinsTC (n.2404+22_2404+23delinsTC)
c.1540+22_1540+23delinsTC (n.1540+22_1540+23delinsTC)
11g.118480261C>ACA2574995339KMT2Ac.3733+23C>A (n.3733+23C>A)
c.1216+23C>A (n.1216+23C>A)
c.1117+23C>A (n.1117+23C>A)
c.1441+23C>A (n.1441+23C>A)
c.615+23C>A
c.3634+23C>A (n.3634+23C>A)
c.886+23C>A (n.886+23C>A)
c.2404+23C>A (n.2404+23C>A)
c.1540+23C>A (n.1540+23C>A)
11g.118480261C>TCA2574995340KMT2Ac.3733+23C>T (n.3733+23C>T)
c.1216+23C>T (n.1216+23C>T)
c.1117+23C>T (n.1117+23C>T)
c.1441+23C>T (n.1441+23C>T)
c.615+23C>T
c.3634+23C>T (n.3634+23C>T)
c.886+23C>T (n.886+23C>T)
c.2404+23C>T (n.2404+23C>T)
c.1540+23C>T (n.1540+23C>T)
gnomAD v4
11g.118480265dupCA2793815220KMT2Ac.3733+27dup (n.3733+27dup)
c.1216+27dup (n.1216+27dup)
c.1117+27dup (n.1117+27dup)
c.1441+27dup (n.1441+27dup)
c.615+27dup
c.3634+27dup (n.3634+27dup)
c.886+27dup (n.886+27dup)
c.2404+27dup (n.2404+27dup)
c.1540+27dup (n.1540+27dup)
11g.118480265delCA672347144KMT2Ac.3733+27del (n.3733+27del)
c.1216+27del (n.1216+27del)
c.1117+27del (n.1117+27del)
c.1441+27del (n.1441+27del)
c.615+27del
c.3634+27del (n.3634+27del)
c.886+27del (n.886+27del)
c.2404+27del (n.2404+27del)
c.1540+27del (n.1540+27del)
dbSNP gnomAD v4
11g.118480262C=CA2003512071KMT2Ac.3733+24C= (n.3733+24C=)
c.1216+24C= (n.1216+24C=)
c.1117+24C= (n.1117+24C=)
c.1441+24C= (n.1441+24C=)
c.615+24C=
c.3634+24C= (n.3634+24C=)
c.886+24C= (n.886+24C=)
c.2404+24C= (n.2404+24C=)
c.1540+24C= (n.1540+24C=)
11g.118480262C>TCA602140268KMT2Ac.3733+24C>T (n.3733+24C>T)
c.1216+24C>T (n.1216+24C>T)
c.1117+24C>T (n.1117+24C>T)
c.1441+24C>T (n.1441+24C>T)
c.615+24C>T
c.3634+24C>T (n.3634+24C>T)
c.886+24C>T (n.886+24C>T)
c.2404+24C>T (n.2404+24C>T)
c.1540+24C>T (n.1540+24C>T)
dbSNP gnomAD v2 gnomAD v4
11g.118480262_118480263insATTGTAGATTCTGACATTTTCA2725034740KMT2Ac.3733+24_3733+25insATTGTAGATTCTGACATTTT (n.3733+24_3733+25insATTGTAGATTCTGACATTTT)
c.1216+24_1216+25insATTGTAGATTCTGACATTTT (n.1216+24_1216+25insATTGTAGATTCTGACATTTT)
c.1117+24_1117+25insATTGTAGATTCTGACATTTT (n.1117+24_1117+25insATTGTAGATTCTGACATTTT)
c.1441+24_1441+25insATTGTAGATTCTGACATTTT (n.1441+24_1441+25insATTGTAGATTCTGACATTTT)
c.615+24_615+25insATTGTAGATTCTGACATTTT
c.3634+24_3634+25insATTGTAGATTCTGACATTTT (n.3634+24_3634+25insATTGTAGATTCTGACATTTT)
c.886+24_886+25insATTGTAGATTCTGACATTTT (n.886+24_886+25insATTGTAGATTCTGACATTTT)
c.2404+24_2404+25insATTGTAGATTCTGACATTTT (n.2404+24_2404+25insATTGTAGATTCTGACATTTT)
c.1540+24_1540+25insATTGTAGATTCTGACATTTT (n.1540+24_1540+25insATTGTAGATTCTGACATTTT)
dbSNP
11g.118480263C>ACA2574995341KMT2Ac.3733+25C>A (n.3733+25C>A)
c.1216+25C>A (n.1216+25C>A)
c.1117+25C>A (n.1117+25C>A)
c.1441+25C>A (n.1441+25C>A)
c.615+25C>A
c.3634+25C>A (n.3634+25C>A)
c.886+25C>A (n.886+25C>A)
c.2404+25C>A (n.2404+25C>A)
c.1540+25C>A (n.1540+25C>A)
gnomAD v4
11g.118480263C>TCA2574995342KMT2Ac.3733+25C>T (n.3733+25C>T)
c.1216+25C>T (n.1216+25C>T)
c.1117+25C>T (n.1117+25C>T)
c.1441+25C>T (n.1441+25C>T)
c.615+25C>T
c.3634+25C>T (n.3634+25C>T)
c.886+25C>T (n.886+25C>T)
c.2404+25C>T (n.2404+25C>T)
c.1540+25C>T (n.1540+25C>T)
11g.118480264C=CA2003512073KMT2Ac.3733+26C= (n.3733+26C=)
c.1216+26C= (n.1216+26C=)
c.1117+26C= (n.1117+26C=)
c.1441+26C= (n.1441+26C=)
c.615+26C=
c.3634+26C= (n.3634+26C=)
c.886+26C= (n.886+26C=)
c.2404+26C= (n.2404+26C=)
c.1540+26C= (n.1540+26C=)
11g.118480264C>TCA672347161KMT2Ac.3733+26C>T (n.3733+26C>T)
c.1216+26C>T (n.1216+26C>T)
c.1117+26C>T (n.1117+26C>T)
c.1441+26C>T (n.1441+26C>T)
c.615+26C>T
c.3634+26C>T (n.3634+26C>T)
c.886+26C>T (n.886+26C>T)
c.2404+26C>T (n.2404+26C>T)
c.1540+26C>T (n.1540+26C>T)
dbSNP gnomAD v3 gnomAD v4
11g.118480265C>ACA6303690KMT2Ac.3733+27C>A (n.3733+27C>A)
c.1216+27C>A (n.1216+27C>A)
c.1117+27C>A (n.1117+27C>A)
c.1441+27C>A (n.1441+27C>A)
c.615+27C>A
c.3634+27C>A (n.3634+27C>A)
c.886+27C>A (n.886+27C>A)
c.2404+27C>A (n.2404+27C>A)
c.1540+27C>A (n.1540+27C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480265C=CA2003512076KMT2Ac.3733+27C= (n.3733+27C=)
c.1216+27C= (n.1216+27C=)
c.1117+27C= (n.1117+27C=)
c.1441+27C= (n.1441+27C=)
c.615+27C=
c.3634+27C= (n.3634+27C=)
c.886+27C= (n.886+27C=)
c.2404+27C= (n.2404+27C=)
c.1540+27C= (n.1540+27C=)
11g.118480266A=CA2003512078KMT2Ac.3733+28A= (n.3733+28A=)
c.1216+28A= (n.1216+28A=)
c.1117+28A= (n.1117+28A=)
c.1441+28A= (n.1441+28A=)
c.615+28A=
c.3634+28A= (n.3634+28A=)
c.886+28A= (n.886+28A=)
c.2404+28A= (n.2404+28A=)
c.1540+28A= (n.1540+28A=)
11g.118480266A>CCA229527158KMT2Ac.3733+28A>C (n.3733+28A>C)
c.1216+28A>C (n.1216+28A>C)
c.1117+28A>C (n.1117+28A>C)
c.1441+28A>C (n.1441+28A>C)
c.615+28A>C
c.3634+28A>C (n.3634+28A>C)
c.886+28A>C (n.886+28A>C)
c.2404+28A>C (n.2404+28A>C)
c.1540+28A>C (n.1540+28A>C)
dbSNP
11g.118480267A=CA2003512080KMT2Ac.3733+29A= (n.3733+29A=)
c.1216+29A= (n.1216+29A=)
c.1117+29A= (n.1117+29A=)
c.1441+29A= (n.1441+29A=)
c.615+29A=
c.3634+29A= (n.3634+29A=)
c.886+29A= (n.886+29A=)
c.2404+29A= (n.2404+29A=)
c.1540+29A= (n.1540+29A=)
11g.118480267A>CCA6303691KMT2Ac.3733+29A>C (n.3733+29A>C)
c.1216+29A>C (n.1216+29A>C)
c.1117+29A>C (n.1117+29A>C)
c.1441+29A>C (n.1441+29A>C)
c.615+29A>C
c.3634+29A>C (n.3634+29A>C)
c.886+29A>C (n.886+29A>C)
c.2404+29A>C (n.2404+29A>C)
c.1540+29A>C (n.1540+29A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480267A>GCA672347176KMT2Ac.3733+29A>G (n.3733+29A>G)
c.1216+29A>G (n.1216+29A>G)
c.1117+29A>G (n.1117+29A>G)
c.1441+29A>G (n.1441+29A>G)
c.615+29A>G
c.3634+29A>G (n.3634+29A>G)
c.886+29A>G (n.886+29A>G)
c.2404+29A>G (n.2404+29A>G)
c.1540+29A>G (n.1540+29A>G)
dbSNP gnomAD v3 gnomAD v4
11g.118480267A>TCA602140269KMT2Ac.3733+29A>T (n.3733+29A>T)
c.1216+29A>T (n.1216+29A>T)
c.1117+29A>T (n.1117+29A>T)
c.1441+29A>T (n.1441+29A>T)
c.615+29A>T
c.3634+29A>T (n.3634+29A>T)
c.886+29A>T (n.886+29A>T)
c.2404+29A>T (n.2404+29A>T)
c.1540+29A>T (n.1540+29A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.118480268A=CA2003512082KMT2Ac.3733+30A= (n.3733+30A=)
c.1216+30A= (n.1216+30A=)
c.1117+30A= (n.1117+30A=)
c.1441+30A= (n.1441+30A=)
c.615+30A=
c.3634+30A= (n.3634+30A=)
c.886+30A= (n.886+30A=)
c.2404+30A= (n.2404+30A=)
c.1540+30A= (n.1540+30A=)
11g.118480268A>GCA6303692KMT2Ac.3733+30A>G (n.3733+30A>G)
c.1216+30A>G (n.1216+30A>G)
c.1117+30A>G (n.1117+30A>G)
c.1441+30A>G (n.1441+30A>G)
c.615+30A>G
c.3634+30A>G (n.3634+30A>G)
c.886+30A>G (n.886+30A>G)
c.2404+30A>G (n.2404+30A>G)
c.1540+30A>G (n.1540+30A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.118480268A>TCA2574995343KMT2Ac.3733+30A>T (n.3733+30A>T)
c.1216+30A>T (n.1216+30A>T)
c.1117+30A>T (n.1117+30A>T)
c.1441+30A>T (n.1441+30A>T)
c.615+30A>T
c.3634+30A>T (n.3634+30A>T)
c.886+30A>T (n.886+30A>T)
c.2404+30A>T (n.2404+30A>T)
c.1540+30A>T (n.1540+30A>T)
11g.118480269T>GCA602140270KMT2Ac.3733+31T>G (n.3733+31T>G)
c.1216+31T>G (n.1216+31T>G)
c.1117+31T>G (n.1117+31T>G)
c.1441+31T>G (n.1441+31T>G)
c.615+31T>G
c.3634+31T>G (n.3634+31T>G)
c.886+31T>G (n.886+31T>G)
c.2404+31T>G (n.2404+31T>G)
c.1540+31T>G (n.1540+31T>G)
dbSNP gnomAD v2 gnomAD v4
11g.118480269T=CA2003512085KMT2Ac.3733+31T= (n.3733+31T=)
c.1216+31T= (n.1216+31T=)
c.1117+31T= (n.1117+31T=)
c.1441+31T= (n.1441+31T=)
c.615+31T=
c.3634+31T= (n.3634+31T=)
c.886+31T= (n.886+31T=)
c.2404+31T= (n.2404+31T=)
c.1540+31T= (n.1540+31T=)
11g.118480269_118480270insTAAATTTAGAAGAAAACA2725034754KMT2Ac.3733+31_3733+32insTAAATTTAGAAGAAAA (n.3733+31_3733+32insTAAATTTAGAAGAAAA)
c.1216+31_1216+32insTAAATTTAGAAGAAAA (n.1216+31_1216+32insTAAATTTAGAAGAAAA)
c.1117+31_1117+32insTAAATTTAGAAGAAAA (n.1117+31_1117+32insTAAATTTAGAAGAAAA)
c.1441+31_1441+32insTAAATTTAGAAGAAAA (n.1441+31_1441+32insTAAATTTAGAAGAAAA)
c.615+31_615+32insTAAATTTAGAAGAAAA
c.3634+31_3634+32insTAAATTTAGAAGAAAA (n.3634+31_3634+32insTAAATTTAGAAGAAAA)
c.886+31_886+32insTAAATTTAGAAGAAAA (n.886+31_886+32insTAAATTTAGAAGAAAA)
c.2404+31_2404+32insTAAATTTAGAAGAAAA (n.2404+31_2404+32insTAAATTTAGAAGAAAA)
c.1540+31_1540+32insTAAATTTAGAAGAAAA (n.1540+31_1540+32insTAAATTTAGAAGAAAA)
dbSNP
11g.118480270G>ACA2616261700KMT2Ac.3733+32G>A (n.3733+32G>A)
c.1216+32G>A (n.1216+32G>A)
c.1117+32G>A (n.1117+32G>A)
c.1441+32G>A (n.1441+32G>A)
c.615+32G>A
c.3634+32G>A (n.3634+32G>A)
c.886+32G>A (n.886+32G>A)
c.2404+32G>A (n.2404+32G>A)
c.1540+32G>A (n.1540+32G>A)
gnomAD v4
11g.118480270G>TCA2616261701KMT2Ac.3733+32G>T (n.3733+32G>T)
c.1216+32G>T (n.1216+32G>T)
c.1117+32G>T (n.1117+32G>T)
c.1441+32G>T (n.1441+32G>T)
c.615+32G>T
c.3634+32G>T (n.3634+32G>T)
c.886+32G>T (n.886+32G>T)
c.2404+32G>T (n.2404+32G>T)
c.1540+32G>T (n.1540+32G>T)
gnomAD v4
11g.118480271C>ACA2616261702KMT2Ac.3733+33C>A (n.3733+33C>A)
c.1216+33C>A (n.1216+33C>A)
c.1117+33C>A (n.1117+33C>A)
c.1441+33C>A (n.1441+33C>A)
c.615+33C>A
c.3634+33C>A (n.3634+33C>A)
c.886+33C>A (n.886+33C>A)
c.2404+33C>A (n.2404+33C>A)
c.1540+33C>A (n.1540+33C>A)
dbSNP gnomAD v4
11g.118480271C=CA2003512087KMT2Ac.3733+33C= (n.3733+33C=)
c.1216+33C= (n.1216+33C=)
c.1117+33C= (n.1117+33C=)
c.1441+33C= (n.1441+33C=)
c.615+33C=
c.3634+33C= (n.3634+33C=)
c.886+33C= (n.886+33C=)
c.2404+33C= (n.2404+33C=)
c.1540+33C= (n.1540+33C=)
11g.118480271C>GCA2616261703KMT2Ac.3733+33C>G (n.3733+33C>G)
c.1216+33C>G (n.1216+33C>G)
c.1117+33C>G (n.1117+33C>G)
c.1441+33C>G (n.1441+33C>G)
c.615+33C>G
c.3634+33C>G (n.3634+33C>G)
c.886+33C>G (n.886+33C>G)
c.2404+33C>G (n.2404+33C>G)
c.1540+33C>G (n.1540+33C>G)
gnomAD v4
11g.118480271C>TCA6303693KMT2Ac.3733+33C>T (n.3733+33C>T)
c.1216+33C>T (n.1216+33C>T)
c.1117+33C>T (n.1117+33C>T)
c.1441+33C>T (n.1441+33C>T)
c.615+33C>T
c.3634+33C>T (n.3634+33C>T)
c.886+33C>T (n.886+33C>T)
c.2404+33C>T (n.2404+33C>T)
c.1540+33C>T (n.1540+33C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.118480272T>CCA2616261704KMT2Ac.3733+34T>C (n.3733+34T>C)
c.1216+34T>C (n.1216+34T>C)
c.1117+34T>C (n.1117+34T>C)
c.1441+34T>C (n.1441+34T>C)
c.615+34T>C
c.3634+34T>C (n.3634+34T>C)
c.886+34T>C (n.886+34T>C)
c.2404+34T>C (n.2404+34T>C)
c.1540+34T>C (n.1540+34T>C)
gnomAD v4

Number of alleles fetched