| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257905 |
| Start |
54581991:54581991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.388T>A |
| AA Mutation |
p.Ser130Thr(p.S130T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257905 |
| Start |
54581004:54581004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.450A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257905 |
| Start |
54582099:54582099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.280C>T |
| AA Mutation |
p.Gln94Ter(p.Q94*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |