| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000327325 |
| Start |
7766801:7766801(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.930G>T |
| AA Mutation |
p.Glu310Asp(p.E310D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000327325 |
| Start |
7768895:7768895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144974332
|
| CDS Mutation |
c.1107G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000327325 |
| Start |
7766176:7766176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.753T>G |
| AA Mutation |
p.Tyr251Ter(p.Y251*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |