Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> COL9A3

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000343916
Start 62824446:62824446(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.521G>A
AA Mutation p.Cys174Tyr(p.C174Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000343916
Start 62829676:62829676(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs531144768
CDS Mutation c.1102G>A
AA Mutation p.Val368Ile(p.V368I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000343916
Start 62830583:62830583(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562245450
CDS Mutation c.1282G>A
AA Mutation p.Asp428Asn(p.D428N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000343916
Start 62827242:62827242(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.794G>A
AA Mutation p.Gly265Asp(p.G265D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000343916
Start 62836264:62836264(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1479G>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000343916
Start 62819251:62819251(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.213G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000343916
Start 62821525:62821525(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.369delC
AA Mutation p.Gly124GlufsTer5(p.G124Efs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000343916
Start 62826243:62826243(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.728delC
AA Mutation p.Pro243LeufsTer290(p.P243Lfs*290)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000343916
Start 62825828:62825828(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.647delC
AA Mutation p.Pro216LeufsTer317(p.P216Lfs*317)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 10
Mutation Consequence stop_gained
Transcription ID ENST00000343916
Start 62830402:62830402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1204C>T
AA Mutation p.Arg402Ter(p.R402*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> COL9A3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000343916
Start 62832169:62832169(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1303G>A
AA Mutation p.Ala435Thr(p.A435T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000343916
Start 62829675:62829675(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765090954
CDS Mutation c.1101C>T
Mutation Classification Silent
Feature Type Transcript