| ID |
3 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000261267 |
| Start |
69350272:69350273(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.301_301+1insCTTTGCTGCAAGATAACATCGCTGATGCT |
| AA Mutation |
p.Val111LeufsTer11(p.V111Lfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000261267 |
| Start |
69350106:69350106(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.137-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |