| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311907 |
| Start |
46728122:46728122(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1257G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311907 |
| Start |
46729461:46729461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1554G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000311907 |
| Start |
46739353:46739354(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776618390
|
| CDS Mutation |
c.1814_1815delAT |
| AA Mutation |
p.His605ArgfsTer13(p.H605Rfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |