| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319080 |
| Start |
122135557:122135557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs369340273
|
| CDS Mutation |
c.1923G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319080 |
| Start |
122138199:122138199(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2160G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319080 |
| Start |
122138528:122138528(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2361delC |
| AA Mutation |
p.Ile787MetfsTer30(p.I787Mfs*30) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |