| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133955071:133955071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.520G>A |
| AA Mutation |
p.Val174Met(p.V174M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133955170:133955170(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148547180
|
| CDS Mutation |
c.421G>A |
| AA Mutation |
p.Glu141Lys(p.E141K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133935806:133935806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751921800
|
| CDS Mutation |
c.1782C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |