Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PMEPA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000341744
Start 57709540:57709540(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.43G>A
AA Mutation p.Ala15Thr(p.A15T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000341744
Start 57659640:57659640(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.167T>C
AA Mutation p.Val56Ala(p.V56A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000341744
Start 57709513:57709513(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.70T>A
AA Mutation p.Cys24Ser(p.C24S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000341744
Start 57652371:57652371(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.546G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000341744
Start 57652365:57652365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.552C>T
Mutation Classification Silent
Feature Type Transcript

Rectum Cancer: Gene >> PMEPA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000341744
Start 57652531:57652531(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.386G>A
AA Mutation p.Arg129His(p.R129H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence frameshift_variant
Transcription ID ENST00000341744
Start 57652293:57652293(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.624delC
AA Mutation p.Ser209AlafsTer61(p.S209Afs*61)
Mutation Classification Frame_Shift_Del
Feature Type Transcript