| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282185 |
| Start |
82178514:82178514(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.380A>G |
| AA Mutation |
p.Asp127Gly(p.D127G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282185 |
| Start |
82164509:82164509(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.327T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000282185 |
| Start |
82178542:82178542(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.408T>A |
| AA Mutation |
p.Tyr136Ter(p.Y136*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |