| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334681 |
| Start |
42258153:42258153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.293T>G |
| AA Mutation |
p.Met98Arg(p.M98R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334681 |
| Start |
42263564:42263564(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.67G>A |
| AA Mutation |
p.Val23Met(p.V23M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334681 |
| Start |
42258163:42258163(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs3774395
|
| CDS Mutation |
c.283C>T |
| AA Mutation |
p.Arg95Trp(p.R95W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |