Primary Site >> Liver Cancer

Gene >> HNF1A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120994237:120994237(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.787C>G
AA Mutation p.Arg263Gly(p.R263G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120978881:120978881(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.113T>C
AA Mutation p.Leu38Pro(p.L38P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120993621:120993621(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.628T>A
AA Mutation p.Ser210Thr(p.S210T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120994211:120994211(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.761T>A
AA Mutation p.Leu254Gln(p.L254Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120994180:120994180(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.730A>G
AA Mutation p.Arg244Gly(p.R244G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000257555
Start 120993703:120993703(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.710A>G
AA Mutation p.Asn237Ser(p.N237S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000257555
Start 120978908:120978911(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.141_144delGGAG
AA Mutation p.Glu48ProfsTer106(p.E48Pfs*106)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000257555
Start 120989017:120989017(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.511C>T
AA Mutation p.Arg171Ter(p.R171*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence splice_donor_variant
Transcription ID ENST00000257555
Start 120979096:120979096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.326+2T>A
Mutation Classification Splice_Site
Feature Type Transcript
ID 10
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000257555
Start 120999267:120999267(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1502-1G>A
Mutation Classification Splice_Site
Feature Type Transcript