Primary Site >> Liver Cancer

Gene >> NF1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31227585:31227585(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2388A>C
AA Mutation p.Lys796Asn(p.K796N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31265276:31265276(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4772G>A
AA Mutation p.Ser1591Asn(p.S1591N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31233072:31233072(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3567A>T
AA Mutation p.Gln1189His(p.Q1189H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31259100:31259100(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4401T>A
AA Mutation p.Phe1467Leu(p.F1467L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31226676:31226676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2243T>G
AA Mutation p.Met748Arg(p.M748R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31261763:31261763(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4630G>A
AA Mutation p.Ala1544Thr(p.A1544T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31327637:31327637(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs559910904
CDS Mutation c.5407A>G
AA Mutation p.Ile1803Val(p.I1803V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000358273
Start 31265300:31265300(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4796C>A
AA Mutation p.Ser1599Tyr(p.S1599Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000358273
Start 31169936:31169936(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750358089
CDS Mutation c.525T>C
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000358273
Start 31260370:31260370(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.4436delT
AA Mutation p.Phe1479SerfsTer4(p.F1479Sfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000358273
Start 31214494:31214494(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1440delA
AA Mutation p.Lys480AsnfsTer18(p.K480Nfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000358273
Start 31330475:31330476(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5790_5791insTT
AA Mutation p.Ile1931LeufsTer12(p.I1931Lfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 13
Mutation Consequence splice_donor_variant
Transcription ID ENST00000358273
Start 31249120:31249120(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4110+1G>C
Mutation Classification Splice_Site
Feature Type Transcript
ID 14
Mutation Consequence inframe_deletion
Transcription ID ENST00000358273
Start 31330454:31330465(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5768_5779delCGTTAGAATTTT
AA Mutation p.Thr1923_Leu1927delinsMet(p.T1923_L1927delinsM)
Mutation Classification In_Frame_Del
Feature Type Transcript