| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284776 |
| Start |
185611814:185611814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3050C>T |
| AA Mutation |
p.Ser1017Phe(p.S1017F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000284776 |
| Start |
185662173:185662173(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757565438
|
| CDS Mutation |
c.25T>C |
| AA Mutation |
p.Ser9Pro(p.S9P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000284776 |
| Start |
185623977:185623977(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1440C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |