Primary Site >> Liver Cancer

Gene >> DYSF

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71528379:71528379(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1262A>C
AA Mutation p.Glu421Ala(p.E421A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71539182:71539182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761279290
CDS Mutation c.1423G>A
AA Mutation p.Val475Met(p.V475M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71516215:71516215(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.828G>C
AA Mutation p.Glu276Asp(p.E276D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71551064:71551064(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1546C>A
AA Mutation p.Pro516Thr(p.P516T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71528309:71528309(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1192G>T
AA Mutation p.Val398Leu(p.V398L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71612711:71612711(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768354800
CDS Mutation c.4238G>A
AA Mutation p.Arg1413His(p.R1413H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000258104
Start 71665301:71665301(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5197A>G
AA Mutation p.Ile1733Val(p.I1733V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000258104
Start 71600797:71600797(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139983909
CDS Mutation c.3798G>A
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000258104
Start 71553811:71553811(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1935C>T
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000258104
Start 71643994:71643994(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4440A>G
Mutation Classification Silent
Feature Type Transcript
ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000258104
Start 71503220:71503220(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.247delG
AA Mutation p.Glu83LysfsTer68(p.E83Kfs*68)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000258104
Start 71480900:71480900(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.106A>T
AA Mutation p.Lys36Ter(p.K36*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000258104
Start 71513849:71513849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.591C>A
AA Mutation p.Tyr197Ter(p.Y197*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000258104
Start 71567963:71567963(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2524A>T
AA Mutation p.Lys842Ter(p.K842*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript