Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KMT2D

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49049188:49049188(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769189340
CDS Mutation c.3937C>T
AA Mutation p.Arg1313Trp(p.R1313W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49048762:49048762(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4028A>G
AA Mutation p.Asp1343Gly(p.D1343G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000301067
Start 49024578:49024578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16052G>T
AA Mutation p.Arg5351Leu(p.R5351L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49032500:49032500(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12205C>G
AA Mutation p.Leu4069Val(p.L4069V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49033097:49033097(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11608A>G
AA Mutation p.Met3870Val(p.M3870V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49044426:49044426(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5060G>A
AA Mutation p.Arg1687His(p.R1687H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49029214:49029214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369583907
CDS Mutation c.14098G>A
AA Mutation p.Asp4700Asn(p.D4700N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49037178:49037178(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754209328
CDS Mutation c.10178C>T
AA Mutation p.Pro3393Leu(p.P3393L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49037400:49037400(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751075517
CDS Mutation c.9956G>A
AA Mutation p.Gly3319Asp(p.G3319D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49038441:49038441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8915A>G
AA Mutation p.Glu2972Gly(p.E2972G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49031447:49031447(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199797812
CDS Mutation c.13258C>T
AA Mutation p.Arg4420Trp(p.R4420W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49043774:49043774(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5328C>A
AA Mutation p.Phe1776Leu(p.F1776L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49024941:49024941(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15790T>C
AA Mutation p.Trp5264Arg(p.W5264R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49031830:49031830(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12875C>T
AA Mutation p.Pro4292Leu(p.P4292L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49031962:49031962(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12743C>T
AA Mutation p.Thr4248Ile(p.T4248I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49044867:49044867(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375118713
CDS Mutation c.4840C>T
AA Mutation p.Arg1614Trp(p.R1614W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49050981:49050981(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2702C>A
AA Mutation p.Ser901Tyr(p.S901Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49026421:49026421(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15545G>A
AA Mutation p.Gly5182Asp(p.G5182D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49053623:49053623(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.692T>G
AA Mutation p.Val231Gly(p.V231G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49022633:49022633(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398123734
CDS Mutation c.16295G>A
AA Mutation p.Arg5432Gln(p.R5432Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49038147:49038147(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9209T>C
AA Mutation p.Leu3070Pro(p.L3070P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49046139:49046139(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4619A>G
AA Mutation p.Glu1540Gly(p.E1540G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49042610:49042610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5818C>A
AA Mutation p.Pro1940Thr(p.P1940T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49054097:49054097(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771025627
CDS Mutation c.554G>A
AA Mutation p.Arg185His(p.R185H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49046347:49046347(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4496G>T
AA Mutation p.Gly1499Val(p.G1499V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49034900:49034900(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10267C>A
AA Mutation p.Pro3423Thr(p.P3423T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49046157:49046157(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4601G>A
AA Mutation p.Cys1534Tyr(p.C1534Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49050154:49050154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3434C>A
AA Mutation p.Ala1145Asp(p.A1145D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49024916:49024916(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15815C>T
AA Mutation p.Ala5272Val(p.A5272V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49051890:49051890(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377761041
CDS Mutation c.1793G>A
AA Mutation p.Arg598His(p.R598H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49039481:49039481(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8183C>T
AA Mutation p.Ala2728Val(p.A2728V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49040295:49040295(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7475G>T
AA Mutation p.Gly2492Val(p.G2492V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49031254:49031254(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13451G>A
AA Mutation p.Arg4484Gln(p.R4484Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49052286:49052286(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1397G>A
AA Mutation p.Arg466His(p.R466H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49022331:49022331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16361G>A
AA Mutation p.Arg5454Gln(p.R5454Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49027102:49027102(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14864C>T
AA Mutation p.Ser4955Phe(p.S4955F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49052620:49052620(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1202T>C
AA Mutation p.Val401Ala(p.V401A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49022101:49022101(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16463T>C
AA Mutation p.Phe5488Ser(p.F5488S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49031290:49031290(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768387349
CDS Mutation c.13415T>C
AA Mutation p.Val4472Ala(p.V4472A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49037566:49037566(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9790C>A
AA Mutation p.Gln3264Lys(p.Q3264K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49038127:49038127(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9229A>G
AA Mutation p.Asn3077Asp(p.N3077D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49044259:49044259(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs587778457
CDS Mutation c.5129C>T
AA Mutation p.Thr1710Met(p.T1710M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49021850:49021850(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16544A>G
AA Mutation p.Asp5515Gly(p.D5515G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49040307:49040307(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779629382
CDS Mutation c.7463C>T
AA Mutation p.Ser2488Leu(p.S2488L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49022700:49022700(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16228G>T
AA Mutation p.Gly5410Trp(p.G5410W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49038732:49038732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8624C>T
AA Mutation p.Ala2875Val(p.A2875V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49032760:49032760(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760983900
CDS Mutation c.11945G>A
AA Mutation p.Arg3982Gln(p.R3982Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49042574:49042574(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5854T>C
AA Mutation p.Phe1952Leu(p.F1952L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49033762:49033762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758858726
CDS Mutation c.10943C>T
AA Mutation p.Pro3648Leu(p.P3648L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49039939:49039939(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs572359740
CDS Mutation c.7831C>T
AA Mutation p.Arg2611Cys(p.R2611C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49038842:49038842(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8514A>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49042745:49042745(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5778T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49033896:49033896(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10809G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49033884:49033884(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10821G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49049814:49049814(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3774G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49024703:49024703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15927C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49052261:49052261(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1422G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49043758:49043758(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5344C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49052054:49052054(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1629G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49041131:49041131(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200895959
CDS Mutation c.6639C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49046150:49046150(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751508761
CDS Mutation c.4608C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49041191:49041191(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs556666267
CDS Mutation c.6579G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49054983:49054983(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49050603:49050603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2985T>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49026543:49026543(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15423C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49043871:49043871(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5316G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49031766:49031766(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12939C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49038488:49038488(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758061875
CDS Mutation c.8868C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49039817:49039817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7953A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49052090:49052090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1593A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49044500:49044500(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143063879
CDS Mutation c.4986C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49024861:49024861(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776989239
CDS Mutation c.15870C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49032825:49032825(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11880A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49044766:49044766(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748740454
CDS Mutation c.4941C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49030356:49030356(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs753898265
CDS Mutation c.13923C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49052114:49052114(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs568575580
CDS Mutation c.1569G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49040438:49040438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7332C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 78
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49040837:49040837(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6933C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 79
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49037654:49037654(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9702C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49040709:49040709(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7061delC
AA Mutation p.Pro2354LeufsTer30(p.P2354Lfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49041416:49041416(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6354delC
AA Mutation p.Ala2119LeufsTer25(p.A2119Lfs*25)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49051743:49051743(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1940delC
AA Mutation p.Pro647HisfsTer283(p.P647Hfs*283)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49039519:49039519(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8145delG
AA Mutation p.Pro2716LeufsTer17(p.P2716Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49050595:49050595(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2993delC
AA Mutation p.Pro998LeufsTer2(p.P998Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49049884:49049884(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3704delG
AA Mutation p.Gly1235ValfsTer95(p.G1235Vfs*95)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49026421:49026421(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.15545delG
AA Mutation p.Gly5182AlafsTer61(p.G5182Afs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 87
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49038637:49038637(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.8719delT
AA Mutation p.Tyr2907ThrfsTer3(p.Y2907Tfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 88
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49053990:49053990(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.661delG
AA Mutation p.Ala221LeufsTer40(p.A221Lfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 89
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49030395:49030395(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13884delC
AA Mutation p.Thr4629ProfsTer11(p.T4629Pfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49046632:49046632(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4395delC
AA Mutation p.Lys1466ArgfsTer40(p.K1466Rfs*40)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49032239:49032239(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.12466delC
AA Mutation p.Gln4156AsnfsTer5(p.Q4156Nfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 92
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49031727:49031727(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.12978delC
AA Mutation p.Ser4327AlafsTer57(p.S4327Afs*57)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 93
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49038051:49038051(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9305delC
AA Mutation p.Pro3102LeufsTer17(p.P3102Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 94
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49038091:49038091(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.9265delG
AA Mutation p.Val3089TrpfsTer30(p.V3089Wfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 95
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49051026:49051026(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2657delC
AA Mutation p.Pro886LeufsTer44(p.P886Lfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 96
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49026740:49026740(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.15226delG
AA Mutation p.Ala5076HisfsTer2(p.A5076Hfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 97
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49040177:49040177(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7593delC
AA Mutation p.Ser2532LeufsTer11(p.S2532Lfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 98
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49046369:49046369(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4474C>T
AA Mutation p.Gln1492Ter(p.Q1492*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 99
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49032848:49032848(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11857C>T
AA Mutation p.Gln3953Ter(p.Q3953*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 100
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49031492:49031492(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13213C>T
AA Mutation p.Gln4405Ter(p.Q4405*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 101
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49033484:49033484(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11221C>T
AA Mutation p.Gln3741Ter(p.Q3741*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 102
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49027088:49027088(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14878C>T
AA Mutation p.Arg4960Ter(p.R4960*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 103
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49042188:49042188(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6010C>T
AA Mutation p.Gln2004Ter(p.Q2004*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 104
Mutation Consequence stop_gained
Transcription ID ENST00000301067
Start 49044864:49044864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4843C>T
AA Mutation p.Arg1615Ter(p.R1615*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 105
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49030394:49030395(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.13884dupC
AA Mutation p.Thr4629HisfsTer18(p.T4629Hfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 106
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49050594:49050595(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2993dupC
AA Mutation p.Met999TyrfsTer69(p.M999Yfs*69)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 107
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49040935:49040936(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.6834dupT
AA Mutation p.Gly2279TrpfsTer20(p.G2279Wfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 108
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49051149:49051150(version: GRCh38)
Mutation Type INS
dbSNP_RS rs767415197
CDS Mutation c.2533dupC
AA Mutation p.Arg845ProfsTer3(p.R845Pfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 109
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49034153:49034154(version: GRCh38)
Mutation Type INS
dbSNP_RS rs763440821
CDS Mutation c.10653dupA
AA Mutation p.Ala3552SerfsTer4(p.A3552Sfs*4)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 110
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000301067
Start 49038990:49038990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8367-1G>T
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 111
Mutation Consequence splice_donor_variant
Transcription ID ENST00000301067
Start 49046258:49046258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4583+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 112
Mutation Consequence inframe_deletion
Transcription ID ENST00000301067
Start 49033483:49033488(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs765688554
CDS Mutation c.11217_11222delGCAGCA
AA Mutation p.Gln3744_Gln3745del(p.Q3744_Q3745del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 113
Mutation Consequence inframe_deletion
Transcription ID ENST00000301067
Start 49033123:49033125(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs777796038
CDS Mutation c.11580_11582delGCA
AA Mutation p.Gln3863del(p.Q3863del)
Mutation Classification In_Frame_Del
Feature Type Transcript
Mutation ID 114
Mutation Consequence inframe_deletion
Transcription ID ENST00000301067
Start 49046298:49046312(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4531_4545delCATGCTCCTTACGTA
AA Mutation p.His1511_Val1515del(p.H1511_V1515del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> KMT2D

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49022331:49022331(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.16361G>A
AA Mutation p.Arg5454Gln(p.R5454Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49048008:49048008(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4193C>T
AA Mutation p.Ser1398Leu(p.S1398L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49033799:49033799(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10906C>T
AA Mutation p.Leu3636Phe(p.L3636F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49037926:49037926(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752428122
CDS Mutation c.9430G>A
AA Mutation p.Ala3144Thr(p.A3144T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49051702:49051702(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371225040
CDS Mutation c.1981C>T
AA Mutation p.Arg661Cys(p.R661C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49026644:49026644(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.15322C>T
AA Mutation p.Arg5108Cys(p.R5108C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49027010:49027010(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765693458
CDS Mutation c.14956C>T
AA Mutation p.Arg4986Cys(p.R4986C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000301067
Start 49041373:49041373(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs781460562
CDS Mutation c.6397G>A
AA Mutation p.Ala2133Thr(p.A2133T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000301067
Start 49054012:49054012(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.639A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000301067
Start 49040709:49040709(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7061delC
AA Mutation p.Pro2354LeufsTer30(p.P2354Lfs*30)
Mutation Classification Frame_Shift_Del
Feature Type Transcript