| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74722380:74722380(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.718C>A |
| AA Mutation |
p.Leu240Ile(p.L240I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74722603:74722603(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.495G>T |
| AA Mutation |
p.Lys165Asn(p.K165N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000379727 |
| Start |
74721469:74721469(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.987C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |