Primary Site >> Liver Cancer

Gene >> EFEMP1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55881647:55881647(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.605C>T
AA Mutation p.Pro202Leu(p.P202L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55870867:55870867(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1173G>T
AA Mutation p.Gln391His(p.Q391H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55867216:55867216(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746366927
CDS Mutation c.1339G>T
AA Mutation p.Ala447Ser(p.A447S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55917893:55917893(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.289G>A
AA Mutation p.Ala97Thr(p.A97T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55917826:55917826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.356T>C
AA Mutation p.Val119Ala(p.V119A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000355426
Start 55876689:55876689(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.814C>T
AA Mutation p.Leu272Phe(p.L272F)
Mutation Classification Missense_Mutation
Feature Type Transcript