Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTBP2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96777640:96777640(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.488T>G
AA Mutation p.Leu163Arg(p.L163R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96777621:96777621(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.469C>A
AA Mutation p.Gln157Lys(p.Q157K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96751479:96751479(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.94A>T
AA Mutation p.Met32Leu(p.M32L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96777905:96777905(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.667C>G
AA Mutation p.Leu223Val(p.L223V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96812878:96812878(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1338T>A
AA Mutation p.Asn446Lys(p.N446K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96812875:96812875(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1335A>C
AA Mutation p.Lys445Asn(p.K445N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96812844:96812844(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1304C>T
AA Mutation p.Pro435Leu(p.P435L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96770750:96770750(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.331G>T
AA Mutation p.Val111Phe(p.V111F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96812903:96812903(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1363G>A
AA Mutation p.Ala455Thr(p.A455T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000426398
Start 96723565:96723565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10A>G
AA Mutation p.Ile4Val(p.I4V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96777942:96777942(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.704A>G
AA Mutation p.Lys235Arg(p.K235R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96812891:96812891(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1351T>G
AA Mutation p.Phe451Val(p.F451V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96813285:96813285(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1476A>C
AA Mutation p.Lys492Asn(p.K492N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96777870:96777870(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.632T>A
AA Mutation p.Ile211Asn(p.I211N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96813100:96813100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1460T>G
AA Mutation p.Phe487Cys(p.F487C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96769778:96769778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.191G>A
AA Mutation p.Arg64Gln(p.R64Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000426398
Start 96769710:96769710(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.123T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000426398
Start 96769812:96769812(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.225T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000426398
Start 96812731:96812731(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1191A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000426398
Start 96770711:96770711(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.296delT
AA Mutation p.Leu99TrpfsTer3(p.L99Wfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000426398
Start 96812889:96812889(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1353delT
AA Mutation p.Pro452LeufsTer15(p.P452Lfs*15)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000426398
Start 96812873:96812873(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1337delA
AA Mutation p.Asn446IlefsTer21(p.N446Ifs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence frameshift_variant
Transcription ID ENST00000426398
Start 96812888:96812889(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1353dupT
AA Mutation p.Pro452SerfsTer10(p.P452Sfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PTBP2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96751437:96751437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.52G>A
AA Mutation p.Glu18Lys(p.E18K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96770771:96770771(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.352A>C
AA Mutation p.Thr118Pro(p.T118P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000426398
Start 96769817:96769817(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.230C>A
AA Mutation p.Ala77Asp(p.A77D)
Mutation Classification Missense_Mutation
Feature Type Transcript