| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55483099:55483099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112710941
|
| CDS Mutation |
c.344G>A |
| AA Mutation |
p.Arg115His(p.R115H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55489747:55489747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765268187
|
| CDS Mutation |
c.1103G>A |
| AA Mutation |
p.Arg368His(p.R368H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000219070 |
| Start |
55485626:55485626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs558609366
|
| CDS Mutation |
c.681C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |