| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393593 |
| Start |
184419534:184419534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.122C>T |
| AA Mutation |
p.Ala41Val(p.A41V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000393593 |
| Start |
184418169:184418169(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.409A>T |
| AA Mutation |
p.Lys137Ter(p.K137*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000393593 |
| Start |
184399038:184399038(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.571G>T |
| AA Mutation |
p.Glu191Ter(p.E191*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |