Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PNPT1

Mutation ID 1
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55693715:55693715(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.109G>T
AA Mutation p.Ala37Ser(p.A37S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55636343:55636343(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2246G>A
AA Mutation p.Arg749Gln(p.R749Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55687661:55687661(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.206G>A
AA Mutation p.Gly69Asp(p.G69D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55646279:55646279(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1718A>G
AA Mutation p.Glu573Gly(p.E573G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55673062:55673062(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.697G>A
AA Mutation p.Ala233Thr(p.A233T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55679777:55679777(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.584T>A
AA Mutation p.Ile195Lys(p.I195K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55671336:55671336(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200555807
CDS Mutation c.959C>T
AA Mutation p.Thr320Met(p.T320M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55667028:55667028(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1139T>C
AA Mutation p.Leu380Pro(p.L380P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55640663:55640663(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs145069656
CDS Mutation c.2112G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55646289:55646289(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1708delA
AA Mutation p.Ile570LeufsTer2(p.I570Lfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence stop_gained;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55679787:55679787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.574C>T
AA Mutation p.Arg192Ter(p.R192*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> PNPT1

Mutation ID 1
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55667067:55667067(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1100T>A
AA Mutation p.Leu367His(p.L367H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55656186:55656186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1386T>G
AA Mutation p.Ile462Met(p.I462M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55645364:55645364(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1807A>C
AA Mutation p.Asn603His(p.N603H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;NMD_transcript_variant
Transcription ID ENST00000415374
Start 55679732:55679732(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.629C>A
AA Mutation p.Ser210Tyr(p.S210Y)
Mutation Classification Missense_Mutation
Feature Type Transcript