Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> KMT2C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163152:152163152(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10425C>G
AA Mutation p.His3475Gln(p.H3475Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152182240:152182240(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5620T>G
AA Mutation p.Ser1874Ala(p.S1874A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152181537:152181537(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6323C>A
AA Mutation p.Ser2108Tyr(p.S2108Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148305:152148305(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754423379
CDS Mutation c.13622G>A
AA Mutation p.Arg4541Gln(p.R4541Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152309977:152309977(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.838G>T
AA Mutation p.Gly280Trp(p.G280W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152315325:152315325(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.403G>A
AA Mutation p.Ala135Thr(p.A135T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152187341:152187341(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4929G>T
AA Mutation p.Glu1643Asp(p.E1643D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152199355:152199355(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4197G>A
AA Mutation p.Met1399Ile(p.M1399I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000262189
Start 152139676:152139676(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14459A>G
AA Mutation p.Gln4820Arg(p.Q4820R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152247918:152247918(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2516G>C
AA Mutation p.Arg839Thr(p.R839T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148282:152148282(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13645C>T
AA Mutation p.Arg4549Cys(p.R4549C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152330731:152330731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.259G>A
AA Mutation p.Glu87Lys(p.E87K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152154308:152154308(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776094080
CDS Mutation c.12098C>T
AA Mutation p.Pro4033Leu(p.P4033L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152180728:152180728(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756669007
CDS Mutation c.7132A>G
AA Mutation p.Thr2378Ala(p.T2378A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152182996:152182996(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5243A>C
AA Mutation p.Glu1748Ala(p.E1748A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152181444:152181444(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6416G>A
AA Mutation p.Arg2139Gln(p.R2139Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152149148:152149148(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12779C>G
AA Mutation p.Ser4260Cys(p.S4260C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163736:152163736(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9841A>G
AA Mutation p.Met3281Val(p.M3281V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152235837:152235837(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145833795
CDS Mutation c.2749G>A
AA Mutation p.Gly917Arg(p.G917R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162221:152162221(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11356T>A
AA Mutation p.Ser3786Thr(p.S3786T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152224046:152224046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3292G>T
AA Mutation p.Asp1098Tyr(p.D1098Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152167285:152167285(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9611C>T
AA Mutation p.Ala3204Val(p.A3204V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152248216:152248216(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2218G>A
AA Mutation p.Glu740Lys(p.E740K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152273762:152273762(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.955G>A
AA Mutation p.Asp319Asn(p.D319N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152252570:152252570(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1445T>C
AA Mutation p.Met482Thr(p.M482T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152180113:152180113(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7163G>A
AA Mutation p.Arg2388His(p.R2388H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162765:152162765(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10812G>T
AA Mutation p.Lys3604Asn(p.K3604N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152176541:152176541(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8912C>A
AA Mutation p.Ser2971Tyr(p.S2971Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152224438:152224438(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3155A>G
AA Mutation p.Lys1052Arg(p.K1052R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152249945:152249945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1744G>A
AA Mutation p.Val582Ile(p.V582I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148366:152148366(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13561G>A
AA Mutation p.Val4521Ile(p.V4521I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163193:152163193(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10384T>G
AA Mutation p.Phe3462Val(p.F3462V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152145249:152145249(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777526116
CDS Mutation c.14078G>A
AA Mutation p.Arg4693Gln(p.R4693Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152224042:152224042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3296T>G
AA Mutation p.Leu1099Arg(p.L1099R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162484:152162484(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138747124
CDS Mutation c.11093C>T
AA Mutation p.Thr3698Met(p.T3698M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152252603:152252603(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1412G>T
AA Mutation p.Gly471Val(p.G471V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152139713:152139713(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14422G>A
AA Mutation p.Glu4808Lys(p.E4808K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152163208:152163208(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765906762
CDS Mutation c.10369G>A
AA Mutation p.Asp3457Asn(p.D3457N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152248513:152248513(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1921G>T
AA Mutation p.Asp641Tyr(p.D641Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152205205:152205205(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3862C>T
AA Mutation p.Arg1288Trp(p.R1288W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152148177:152148177(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747850540
CDS Mutation c.13750C>T
AA Mutation p.Arg4584Trp(p.R4584W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152167246:152167246(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775712660
CDS Mutation c.9650G>A
AA Mutation p.Arg3217His(p.R3217H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 43
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152149006:152149006(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12921C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 44
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152358600:152358600(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.237G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 45
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152176450:152176450(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9003C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 46
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152182520:152182520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5340G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 47
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152182343:152182343(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375505060
CDS Mutation c.5517G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 48
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152187738:152187738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4770A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 49
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152177566:152177566(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7887A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 50
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152176255:152176255(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9198G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 51
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152182361:152182361(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5499G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 52
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152194016:152194016(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4653C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 53
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152177686:152177686(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7767A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 54
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152181020:152181020(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6840A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152252027:152252027(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1533G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152150963:152150963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12711C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152250887:152250887(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371468635
CDS Mutation c.1701C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 58
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152180985:152180985(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.6875delC
AA Mutation p.Pro2292HisfsTer13(p.P2292Hfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 59
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152162434:152162434(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.11143delA
AA Mutation p.Thr3715GlnfsTer4(p.T3715Qfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 60
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152222008:152222009(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3491_3492delAA
AA Mutation p.Lys1164ArgfsTer17(p.K1164Rfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 61
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152148439:152148439(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.13488delT
AA Mutation p.Phe4496LeufsTer21(p.F4496Lfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 62
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152207400:152207400(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3741delA
AA Mutation p.Lys1247AsnfsTer56(p.K1247Nfs*56)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 63
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152176853:152176854(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.8599_8600delAA
AA Mutation p.Lys2867AspfsTer7(p.K2867Dfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 64
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152138837:152138837(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.14602delA
AA Mutation p.Ile4868LeufsTer37(p.I4868Lfs*37)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 65
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152207402:152207402(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3739A>T
AA Mutation p.Lys1247Ter(p.K1247*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 66
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000262189
Start 152248461:152248462(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1972_1973insTGCTCAGGAAACAGCTATG
AA Mutation p.His658LeufsTer7(p.H658Lfs*7)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 67
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152139719:152139719(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14416C>T
AA Mutation p.Arg4806Ter(p.R4806*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 68
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152330731:152330731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.259G>T
AA Mutation p.Glu87Ter(p.E87*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 69
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152248252:152248252(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2182G>T
AA Mutation p.Glu728Ter(p.E728*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 70
Mutation Consequence stop_gained;splice_region_variant
Transcription ID ENST00000262189
Start 152311945:152311945(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.592G>T
AA Mutation p.Glu198Ter(p.E198*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 71
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152315160:152315160(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.568C>T
AA Mutation p.Arg190Ter(p.R190*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 72
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152176218:152176218(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9235C>T
AA Mutation p.Arg3079Ter(p.R3079*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 73
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152199423:152199423(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4129A>T
AA Mutation p.Arg1377Ter(p.R1377*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 74
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152148873:152148874(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.13053dupA
AA Mutation p.Trp4352MetfsTer17(p.W4352Mfs*17)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 75
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152177007:152177008(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.8445dupA
AA Mutation p.Ser2816IlefsTer6(p.S2816Ifs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 76
Mutation Consequence inframe_insertion
Transcription ID ENST00000262189
Start 152182508:152182509(version: GRCh38)
Mutation Type INS
dbSNP_RS rs749417254
CDS Mutation c.5349_5351dupGCA
AA Mutation p.Gln1787dup(p.Q1787dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> KMT2C

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162337:152162337(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11240A>G
AA Mutation p.Asn3747Ser(p.N3747S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152162542:152162542(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11035G>A
AA Mutation p.Glu3679Lys(p.E3679K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152248071:152248071(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2363C>T
AA Mutation p.Ser788Phe(p.S788F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152176673:152176673(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8780C>T
AA Mutation p.Ser2927Phe(p.S2927F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152177430:152177430(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8023T>G
AA Mutation p.Leu2675Val(p.L2675V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152183036:152183036(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5203C>T
AA Mutation p.Leu1735Phe(p.L1735F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152187458:152187458(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4812T>G
AA Mutation p.Phe1604Leu(p.F1604L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152230003:152230003(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2896T>G
AA Mutation p.Phe966Val(p.F966V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000262189
Start 152358670:152358670(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.167G>A
AA Mutation p.Arg56Gln(p.R56Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152248370:152248370(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2064C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000262189
Start 152144740:152144740(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14316T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000262189
Start 152154423:152154423(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11983C>T
AA Mutation p.Arg3995Ter(p.R3995*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152146689:152146690(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.13940dupA
AA Mutation p.Ser4648ValfsTer2(p.S4648Vfs*2)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152162681:152162682(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10895dupC
AA Mutation p.Pro3633ThrfsTer19(p.P3633Tfs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000262189
Start 152263069:152263070(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1245_1246insG
AA Mutation p.Phe416ValfsTer31(p.F416Vfs*31)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript