| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249504 |
| Start |
176107527:176107527(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.172G>A |
| AA Mutation |
p.Val58Met(p.V58M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249504 |
| Start |
176107564:176107564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752077506
|
| CDS Mutation |
c.209G>A |
| AA Mutation |
p.Arg70His(p.R70H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000249504 |
| Start |
176109007:176109007(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.882G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |