| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000313244 |
| Start |
6743574:6743574(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774942232
|
| CDS Mutation |
c.489C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000313244 |
| Start |
6750002:6750011(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1331_1340delAGCCCCAGAT |
| AA Mutation |
p.Glu444AlafsTer5(p.E444Afs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000313244 |
| Start |
6743789:6743789(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.595C>T |
| AA Mutation |
p.Arg199Ter(p.R199*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |