| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320895 |
| Start |
1344745:1344745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.97A>C |
| AA Mutation |
p.Thr33Pro(p.T33P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320895 |
| Start |
1331828:1331828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.947A>G |
| AA Mutation |
p.Lys316Arg(p.K316R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000320895 |
| Start |
1325793:1325793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1104G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |