| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447743:121447743(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.896G>A |
| AA Mutation |
p.Arg299His(p.R299H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447463:121447463(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616A>G |
| AA Mutation |
p.Lys206Glu(p.K206E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000282561 |
| Start |
121447210:121447210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.363C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |