Primary Site >> Liver Cancer

Gene >> NLRP6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000312165
Start 281055:281055(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1321G>C
AA Mutation p.Asp441His(p.D441H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000312165
Start 281308:281308(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1574G>A
AA Mutation p.Gly525Asp(p.G525D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000312165
Start 279503:279503(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.206C>A
AA Mutation p.Ala69Asp(p.A69D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000312165
Start 280376:280376(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.642G>A
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000312165
Start 281192:281192(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1458G>T
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000312165
Start 281173:281174(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1439_1440insGTCATAGCTGTTTCCTGAG
AA Mutation p.Lys482Ter(p.K482*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript