Gene >> HPGDS
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295256 |
| Start |
94299587:94299587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.493C>T |
| AA Mutation |
p.Pro165Ser(p.P165S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295256 |
| Start |
94302183:94302183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.398C>T |
| AA Mutation |
p.Thr133Ile(p.T133I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |