| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360380 |
| Start |
47280791:47280791(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1667C>A |
| AA Mutation |
p.Ser556Tyr(p.S556Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360380 |
| Start |
47293515:47293515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.815G>T |
| AA Mutation |
p.Ser272Ile(p.S272I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360380 |
| Start |
47287621:47287621(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1063C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |