| ID |
8 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000241052 |
| Start |
34456164:34456165(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.865_866insTCACTTGCCTGTGATTGTGTCTGGTC |
| AA Mutation |
p.Ala289ValfsTer5(p.A289Vfs*5) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000241052 |
| Start |
34464104:34464104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1196-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |