| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000367005 |
| Start |
211289246:211289246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376624554
|
| CDS Mutation |
c.615A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367005 |
| Start |
211312759:211312763(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.943_947delGTAAT |
| AA Mutation |
p.Val315TrpfsTer20(p.V315Wfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367005 |
| Start |
211278155:211278155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.381C>G |
| AA Mutation |
p.Tyr127Ter(p.Y127*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |