| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367921 |
| Start |
162772032:162772032(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115169993
|
| CDS Mutation |
c.1513G>A |
| AA Mutation |
p.Gly505Ser(p.G505S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367921 |
| Start |
162719112:162719112(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.49A>G |
| AA Mutation |
p.Ile17Val(p.I17V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367921 |
| Start |
162767341:162767341(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1275G>A |
| AA Mutation |
p.Trp425Ter(p.W425*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |