| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229447457:229447457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767590493
|
| CDS Mutation |
c.1345G>A |
| AA Mutation |
p.Gly449Arg(p.G449R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229512846:229512846(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765060539
|
| CDS Mutation |
c.1084G>A |
| AA Mutation |
p.Ala362Thr(p.A362T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229366978:229366978(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780401095
|
| CDS Mutation |
c.1997G>A |
| AA Mutation |
p.Arg666His(p.R666H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |