| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315576 |
| Start |
14767080:14767080(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.385C>A |
| AA Mutation |
p.Leu129Ile(p.L129I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315576 |
| Start |
14751565:14751565(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs45563436
|
| CDS Mutation |
c.1895C>T |
| AA Mutation |
p.Thr632Met(p.T632M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000315576 |
| Start |
14752425:14752425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1692C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |