| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000315677 |
| Start |
3879744:3879744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.325C>T |
| AA Mutation |
p.Arg109Trp(p.R109W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000315677 |
| Start |
3879577:3879577(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.492C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000315677 |
| Start |
3814267:3814267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.964C>T |
| AA Mutation |
p.Gln322Ter(p.Q322*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |