| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121515280:121515280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121913478
|
| CDS Mutation |
c.1124A>G |
| AA Mutation |
p.Tyr375Cys(p.Y375C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121520091:121520091(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.827T>G |
| AA Mutation |
p.Phe276Cys(p.F276C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000358487 |
| Start |
121480021:121480021(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2302G>T |
| AA Mutation |
p.Glu768Ter(p.E768*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |