| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101599099:101599099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1046A>G |
| AA Mutation |
p.Glu349Gly(p.E349G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101558479:101558479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345A>T |
| AA Mutation |
p.Gln115His(p.Q115H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251808 |
| Start |
101599148:101599148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs267601683
|
| CDS Mutation |
c.1095G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |