| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284476 |
| Start |
223002520:223002520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755916120
|
| CDS Mutation |
c.1123G>A |
| AA Mutation |
p.Val375Ile(p.V375I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284476 |
| Start |
223005340:223005340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3943C>A |
| AA Mutation |
p.Leu1315Met(p.L1315M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284476 |
| Start |
223003206:223003206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751940938
|
| CDS Mutation |
c.1809C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |