| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256084 |
| Start |
148114435:148114435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs182767534
|
| CDS Mutation |
c.1961G>A |
| AA Mutation |
p.Arg654His(p.R654H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256084 |
| Start |
148131299:148131299(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3005T>C |
| AA Mutation |
p.Ile1002Thr(p.I1002T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000256084 |
| Start |
148107111:148107111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1554T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |