| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50920664:50920664(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.848C>T |
| AA Mutation |
p.Thr283Ile(p.T283I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50920661:50920661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.845G>A |
| AA Mutation |
p.Gly282Glu(p.G282E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321341 |
| Start |
50921089:50921089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.958G>A |
| AA Mutation |
p.Ala320Thr(p.A320T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |