| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382500 |
| Start |
118035:118035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757842879
|
| CDS Mutation |
c.85G>A |
| AA Mutation |
p.Val29Ile(p.V29I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382500 |
| Start |
117437:117437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.683G>A |
| AA Mutation |
p.Arg228His(p.R228H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382500 |
| Start |
118009:118009(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.111C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |