| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000262039 |
| Start |
41990461:41990461(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.621T>G |
| AA Mutation |
p.Ser207Arg(p.S207R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262039 |
| Start |
41970446:41970446(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376188539
|
| CDS Mutation |
c.521G>A |
| AA Mutation |
p.Arg174His(p.R174H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262039 |
| Start |
42057908:42057908(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2289A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |