| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000412830 |
| Start |
107697485:107697485(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632G>A |
| AA Mutation |
p.Gly211Glu(p.G211E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000412830 |
| Start |
107688629:107688629(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.146G>A |
| AA Mutation |
p.Gly49Asp(p.G49D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000412830 |
| Start |
107688727:107688727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759122398
|
| CDS Mutation |
c.244G>A |
| AA Mutation |
p.Glu82Lys(p.E82K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |