| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000382041 |
| Start |
50757216:50757216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753804413
|
| CDS Mutation |
c.3814C>T |
| AA Mutation |
p.Arg1272Cys(p.R1272C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000382041 |
| Start |
50821982:50821982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.75A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000382041 |
| Start |
50772450:50772450(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.832C>T |
| AA Mutation |
p.Arg278Ter(p.R278*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |