Primary Site >> Liver Cancer

Gene >> AUTS2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000342771
Start 70790056:70790056(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749321104
CDS Mutation c.2840C>T
AA Mutation p.Pro947Leu(p.P947L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000342771
Start 70763074:70763074(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772514731
CDS Mutation c.947G>A
AA Mutation p.Arg316Gln(p.R316Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000342771
Start 70787305:70787305(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2405C>T
AA Mutation p.Ser802Leu(p.S802L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000342771
Start 69899288:69899288(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.312A>C
AA Mutation p.Lys104Asn(p.K104N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000342771
Start 70790650:70790650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371317370
CDS Mutation c.3434G>A
AA Mutation p.Arg1145Gln(p.R1145Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000342771
Start 70789976:70789976(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2760C>T
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000342771
Start 70118185:70118185(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.576A>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence inframe_deletion
Transcription ID ENST00000342771
Start 70766248:70766259(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1614_1625delGCACCAGCACAC
AA Mutation p.His539_Thr542del(p.H539_T542del)
Mutation Classification In_Frame_Del
Feature Type Transcript