| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271064 |
| Start |
31577254:31577254(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.106C>T |
| AA Mutation |
p.His36Tyr(p.H36Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271064 |
| Start |
31583525:31583525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.532C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000271064 |
| Start |
31586855:31586855(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1283delG |
| AA Mutation |
p.Gly428AlafsTer55(p.G428Afs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |