| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361926 |
| Start |
8312206:8312206(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.167C>A |
| AA Mutation |
p.Pro56Gln(p.P56Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361926 |
| Start |
8319055:8319055(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2082G>T |
| AA Mutation |
p.Gln694His(p.Q694H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361926 |
| Start |
8313049:8313049(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773448584
|
| CDS Mutation |
c.729G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |