| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338244 |
| Start |
4869955:4869955(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1201T>C |
| AA Mutation |
p.Cys401Arg(p.C401R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000338244 |
| Start |
4883745:4883745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721T>C |
| AA Mutation |
p.Tyr241His(p.Y241H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000338244 |
| Start |
4912895:4912895(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201503850
|
| CDS Mutation |
c.192C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |