| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331920 |
| Start |
95449845:95449845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3545C>A |
| AA Mutation |
p.Pro1182His(p.P1182H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331920 |
| Start |
95476841:95476841(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1520C>A |
| AA Mutation |
p.Ala507Asp(p.A507D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331920 |
| Start |
95481997:95481997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.698A>G |
| AA Mutation |
p.Asp233Gly(p.D233G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |