Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> CYP51A1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000003100
Start 92118550:92118550(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1152G>T
AA Mutation p.Met384Ile(p.M384I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000003100
Start 92117158:92117158(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1237G>A
AA Mutation p.Val413Ile(p.V413I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000003100
Start 92126402:92126402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.621C>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000003100
Start 92123309:92123309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.897G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000003100
Start 92123208:92123208(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.998delT
AA Mutation p.Leu333TrpfsTer13(p.L333Wfs*13)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 6
Mutation Consequence stop_gained
Transcription ID ENST00000003100
Start 92123780:92123780(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.844G>T
AA Mutation p.Glu282Ter(p.E282*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> CYP51A1

Mutation ID 1
Mutation Consequence stop_gained
Transcription ID ENST00000003100
Start 92118579:92118579(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1123G>T
AA Mutation p.Glu375Ter(p.E375*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript