| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57248263:57248263(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.775G>T |
| AA Mutation |
p.Asp259Tyr(p.D259Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57237493:57237493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.155A>G |
| AA Mutation |
p.Asn52Ser(p.N52S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000288266 |
| Start |
57248283:57248283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.795C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |