| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299440 |
| Start |
36575630:36575630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs121918572
|
| CDS Mutation |
c.2326C>T |
| AA Mutation |
p.Arg776Trp(p.R776W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299440 |
| Start |
36573626:36573626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs193922464
|
| CDS Mutation |
c.322C>T |
| AA Mutation |
p.Arg108Ter(p.R108*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000299440 |
| Start |
36574454:36574454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1150G>T |
| AA Mutation |
p.Glu384Ter(p.E384*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |