| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229307 |
| Start |
7793031:7793031(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs771687755
|
| CDS Mutation |
c.233C>T |
| AA Mutation |
p.Thr78Ile(p.T78I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000229307 |
| Start |
7794980:7794980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.803A>T |
| AA Mutation |
p.Glu268Val(p.E268V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000229307 |
| Start |
7794816:7794816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.639C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |