Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KMT2B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35737915:35737915(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7715C>T
AA Mutation p.Thr2572Met(p.T2572M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35723149:35723149(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2877G>T
AA Mutation p.Lys959Asn(p.K959N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35732977:35732977(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs11670996
CDS Mutation c.6428C>A
AA Mutation p.Ala2143Asp(p.A2143D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35738382:35738382(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7973A>G
AA Mutation p.Asn2658Ser(p.N2658S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35720317:35720317(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765836382
CDS Mutation c.970G>A
AA Mutation p.Glu324Lys(p.E324K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35720162:35720162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.815C>T
AA Mutation p.Pro272Leu(p.P272L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35720771:35720771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1424C>T
AA Mutation p.Thr475Ile(p.T475I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35736746:35736746(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7216G>A
AA Mutation p.Ala2406Thr(p.A2406T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35723180:35723180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2908C>T
AA Mutation p.Arg970Trp(p.R970W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35719942:35719942(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.595C>T
AA Mutation p.Arg199Trp(p.R199W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000420124
Start 35737860:35737860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7660C>T
AA Mutation p.Arg2554Cys(p.R2554C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35728824:35728824(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4622C>T
AA Mutation p.Ala1541Val(p.A1541V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35733631:35733631(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759167832
CDS Mutation c.6994C>T
AA Mutation p.Arg2332Cys(p.R2332C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35729204:35729204(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368307141
CDS Mutation c.4825G>A
AA Mutation p.Val1609Ile(p.V1609I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35727948:35727948(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753899619
CDS Mutation c.4460G>A
AA Mutation p.Arg1487His(p.R1487H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35733292:35733292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6743T>C
AA Mutation p.Val2248Ala(p.V2248A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35719888:35719888(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.541C>T
AA Mutation p.Arg181Trp(p.R181W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35732042:35732042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750345473
CDS Mutation c.5572C>T
AA Mutation p.Arg1858Cys(p.R1858C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35723193:35723193(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769004875
CDS Mutation c.2921G>A
AA Mutation p.Arg974His(p.R974H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35730747:35730747(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5317C>T
AA Mutation p.Arg1773Cys(p.R1773C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35729169:35729169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4790G>A
AA Mutation p.Arg1597Gln(p.R1597Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35733653:35733653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751409145
CDS Mutation c.7016G>A
AA Mutation p.Arg2339Gln(p.R2339Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000420124
Start 35729968:35729968(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4919G>A
AA Mutation p.Arg1640His(p.R1640H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35726258:35726258(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3908G>A
AA Mutation p.Cys1303Tyr(p.C1303Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35726259:35726259(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3909T>G
AA Mutation p.Cys1303Trp(p.C1303W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35733792:35733792(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7079C>A
AA Mutation p.Pro2360Gln(p.P2360Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35724676:35724676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3374G>A
AA Mutation p.Arg1125His(p.R1125H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35727192:35727192(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4040A>G
AA Mutation p.Asp1347Gly(p.D1347G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35732024:35732024(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746346674
CDS Mutation c.5554G>A
AA Mutation p.Ala1852Thr(p.A1852T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35736774:35736774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7244G>A
AA Mutation p.Arg2415His(p.R2415H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35723947:35723947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3274T>C
AA Mutation p.Ser1092Pro(p.S1092P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35723957:35723957(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764276845
CDS Mutation c.3284C>T
AA Mutation p.Ser1095Leu(p.S1095L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35726254:35726254(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3904C>T
AA Mutation p.Arg1302Cys(p.R1302C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35721323:35721323(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1976T>C
AA Mutation p.Leu659Pro(p.L659P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35730595:35730595(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759709546
CDS Mutation c.5255G>A
AA Mutation p.Arg1752Gln(p.R1752Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35719796:35719796(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.449G>A
AA Mutation p.Arg150Gln(p.R150Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35729059:35729059(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4762G>A
AA Mutation p.Gly1588Arg(p.G1588R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35728837:35728837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4635G>T
AA Mutation p.Gln1545His(p.Q1545H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35721148:35721148(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs773862731
CDS Mutation c.1801C>T
AA Mutation p.Arg601Trp(p.R601W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35719524:35719524(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750794495
CDS Mutation c.419C>T
AA Mutation p.Ala140Val(p.A140V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35728143:35728143(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4543T>C
AA Mutation p.Tyr1515His(p.Y1515H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35737245:35737245(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7532G>A
AA Mutation p.Arg2511Gln(p.R2511Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35729998:35729998(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4949C>T
AA Mutation p.Thr1650Met(p.T1650M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35725800:35725800(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146372727
CDS Mutation c.3867G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35727538:35727538(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770838599
CDS Mutation c.4218C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35724692:35724692(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3390G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35732678:35732678(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371790322
CDS Mutation c.6129C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35722466:35722466(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2565G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35727712:35727712(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4317G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35733787:35733787(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7074G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35719531:35719531(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.426A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35727199:35727199(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4047C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35726295:35726295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3945C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35737147:35737147(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7434G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35731927:35731927(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5462delC
AA Mutation p.Pro1821HisfsTer74(p.P1821Hfs*74)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 56
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35725283:35725283(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3596delG
AA Mutation p.Gly1199AlafsTer156(p.G1199Afs*156)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 57
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35732913:35732913(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6368delG
AA Mutation p.Gly2123ValfsTer30(p.G2123Vfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35732274:35732274(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5730delC
AA Mutation p.Arg1911AspfsTer23(p.R1911Dfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35732101:35732101(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5636delG
AA Mutation p.Gly1879ValfsTer16(p.G1879Vfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35723069:35723069(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2801delG
AA Mutation p.Gly934GlufsTer52(p.G934Efs*52)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35732956:35732956(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6407delT
AA Mutation p.Leu2136ProfsTer17(p.L2136Pfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35737693:35737693(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7612delG
AA Mutation p.Ala2538ProfsTer76(p.A2538Pfs*76)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35725288:35725288(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3602delC
AA Mutation p.Pro1201ArgfsTer154(p.P1201Rfs*154)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35723827:35723827(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3159delG
AA Mutation p.Arg1055GlyfsTer127(p.R1055Gfs*127)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35719862:35719862(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.521delC
AA Mutation p.Pro174GlnfsTer20(p.P174Qfs*20)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000420124
Start 35719786:35719786(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.439C>T
AA Mutation p.Arg147Ter(p.R147*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35730096:35730096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5047C>T
AA Mutation p.Gln1683Ter(p.Q1683*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35738078:35738078(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7759C>T
AA Mutation p.Arg2587Ter(p.R2587*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35723264:35723264(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2992C>T
AA Mutation p.Gln998Ter(p.Q998*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35727227:35727227(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4075C>T
AA Mutation p.Gln1359Ter(p.Q1359*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35728149:35728149(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4549C>T
AA Mutation p.Arg1517Ter(p.R1517*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000420124
Start 35732060:35732060(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5590C>T
AA Mutation p.Arg1864Ter(p.R1864*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35729058:35729059(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4765dupG
AA Mutation p.Asp1589GlyfsTer89(p.D1589Gfs*89)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35720996:35720997(version: GRCh38)
Mutation Type INS
dbSNP_RS rs775294431
CDS Mutation c.1656dupC
AA Mutation p.Lys553GlnfsTer46(p.K553Qfs*46)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35723812:35723813(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3145dupG
AA Mutation p.Ala1049GlyfsTer39(p.A1049Gfs*39)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> KMT2B

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35719919:35719919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.572A>T
AA Mutation p.Gln191Leu(p.Q191L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35725068:35725068(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3509G>A
AA Mutation p.Arg1170His(p.R1170H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35727485:35727485(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4165A>C
AA Mutation p.Thr1389Pro(p.T1389P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35729065:35729065(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4768G>A
AA Mutation p.Ala1590Thr(p.A1590T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35736699:35736699(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs367682204
CDS Mutation c.7169C>T
AA Mutation p.Ser2390Leu(p.S2390L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000420124
Start 35737899:35737899(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7699C>T
AA Mutation p.Arg2567Cys(p.R2567C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000420124
Start 35738329:35738329(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770718510
CDS Mutation c.7920C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000420124
Start 35730787:35730787(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.5361delG
AA Mutation p.Pro1788ArgfsTer107(p.P1788Rfs*107)
Mutation Classification Frame_Shift_Del
Feature Type Transcript