| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252675 |
| Start |
5867322:5867322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139667433
|
| CDS Mutation |
c.404C>T |
| AA Mutation |
p.Pro135Leu(p.P135L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000252675 |
| Start |
5866747:5866747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745747279
|
| CDS Mutation |
c.979G>A |
| AA Mutation |
p.Ala327Thr(p.A327T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252675 |
| Start |
5867609:5867609(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs531111057
|
| CDS Mutation |
c.117C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |