Primary Site >> Liver Cancer

Gene >> ACVR2A

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000241416
Start 147917338:147917338(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.728A>T
AA Mutation p.His243Leu(p.H243L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000241416
Start 147922991:147922991(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1096A>G
AA Mutation p.Met366Val(p.M366V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000241416
Start 147927105:147927105(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1373T>C
AA Mutation p.Ile458Thr(p.I458T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000241416
Start 147917414:147917414(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.804A>G
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000241416
Start 147915281:147915284(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.619_622delTGGA
AA Mutation p.Trp207LysfsTer34(p.W207Kfs*34)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000241416
Start 147927084:147927090(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1352_1358delTGGCAAT
AA Mutation p.Met451SerfsTer23(p.M451Sfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000241416
Start 147927151:147927167(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1419_1435delATGTGTAGGTGAAAGAA
AA Mutation p.Cys474TyrfsTer26(p.C474Yfs*26)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000241416
Start 147917373:147917373(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.763C>T
AA Mutation p.Arg255Ter(p.R255*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000241416
Start 147899564:147899564(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.370C>T
AA Mutation p.Gln124Ter(p.Q124*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000241416
Start 147926116:147926117(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1310dupA
AA Mutation p.Arg438GlufsTer19(p.R438Efs*19)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 11
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000241416
Start 147896299:147896299(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.56-2A>T
Mutation Classification Splice_Site
Feature Type Transcript
ID 12
Mutation Consequence inframe_deletion
Transcription ID ENST00000241416
Start 147927148:147927153(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1418_1423delGATGTG
AA Mutation p.Gly473_Cys474del(p.G473_C474del)
Mutation Classification In_Frame_Del
Feature Type Transcript
ID 13
Mutation Consequence inframe_insertion
Transcription ID ENST00000241416
Start 147927136:147927137(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1405_1410dupAGGTTA
AA Mutation p.Arg469_Leu470dup(p.R469_L470dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript