Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BCKDHB

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320393
Start 80273154:80273154(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779150907
CDS Mutation c.971G>A
AA Mutation p.Arg324Gln(p.R324Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000320393
Start 80343785:80343785(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755159101
CDS Mutation c.1160G>A
AA Mutation p.Arg387Gln(p.R387Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000320393
Start 80273199:80273199(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs398124561
CDS Mutation c.1016C>T
AA Mutation p.Ser339Leu(p.S339L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000320393
Start 80169017:80169017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.620G>A
AA Mutation p.Cys207Tyr(p.C207Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000320393
Start 80273153:80273153(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.970C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000320393
Start 80167736:80167736(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759881863
CDS Mutation c.402C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000320393
Start 80127549:80127549(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.199delC
AA Mutation p.Gln67LysfsTer5(p.Q67Kfs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> BCKDHB

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000320393
Start 80200981:80200981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.790G>A
AA Mutation p.Glu264Lys(p.E264K)
Mutation Classification Missense_Mutation
Feature Type Transcript