| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359003 |
| Start |
34742650:34742650(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372455229
|
| CDS Mutation |
c.3606G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359003 |
| Start |
34757683:34757683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1065G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000359003 |
| Start |
34757343:34757343(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1405C>T |
| AA Mutation |
p.Gln469Ter(p.Q469*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |