| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63484410:63484410(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1790A>G |
| AA Mutation |
p.Gln597Arg(p.Q597R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290866 |
| Start |
63496467:63496467(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3454C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290866 |
| Start |
63491291:63491291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2822G>A |
| AA Mutation |
p.Trp941Ter(p.W941*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |