Primary Site >> Liver Cancer

Gene >> BLM

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000355112
Start 90815253:90815253(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4228C>A
AA Mutation p.Leu1410Ile(p.L1410I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000355112
Start 90749804:90749804(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.536G>T
AA Mutation p.Arg179Ile(p.R179I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000355112
Start 90803635:90803635(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3473A>G
AA Mutation p.Asp1158Gly(p.D1158G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000355112
Start 90804313:90804313(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3705C>A
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000355112
Start 90766977:90766978(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2268dupA
AA Mutation p.Asp757ArgfsTer18(p.D757Rfs*18)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript