Primary Site >> Liver Cancer

Gene >> COL4A2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000360467
Start 110438631:110438631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.875A>C
AA Mutation p.Lys292Thr(p.K292T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000360467
Start 110430414:110430414(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.563A>G
AA Mutation p.Glu188Gly(p.E188G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000360467
Start 110480232:110480232(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2600A>G
AA Mutation p.Asp867Gly(p.D867G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000360467
Start 110489463:110489463(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3226G>C
AA Mutation p.Gly1076Arg(p.G1076R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000360467
Start 110506487:110506487(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4475T>A
AA Mutation p.Leu1492Gln(p.L1492Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000360467
Start 110465590:110465590(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1962G>A
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence stop_gained
Transcription ID ENST00000360467
Start 110472943:110472943(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2218C>T
AA Mutation p.Arg740Ter(p.R740*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript