Primary Site >> Liver Cancer

Gene >> COL2A1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000380518
Start 47976897:47976897(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3350A>T
AA Mutation p.Asp1117Val(p.D1117V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000380518
Start 47999934:47999934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.277C>T
AA Mutation p.Leu93Phe(p.L93F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000380518
Start 47998033:47998033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.374A>G
AA Mutation p.Gln125Arg(p.Q125R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000380518
Start 47994429:47994429(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.811C>A
AA Mutation p.Pro271Thr(p.P271T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000380518
Start 47985061:47985061(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1767T>A
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000380518
Start 47982547:47982547(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2256T>G
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000380518
Start 47980029:47980029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2659C>T
AA Mutation p.Arg887Ter(p.R887*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000380518
Start 47974863:47974863(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3887-1G>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 9
Mutation Consequence inframe_insertion
Transcription ID ENST00000380518
Start 47995714:47995715(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.695_703dupAACCTGGTG
AA Mutation p.Glu232_Gly234dup(p.E232_G234dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript