| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81743436:81743436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.782G>T |
| AA Mutation |
p.Arg261Leu(p.R261L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81743435:81743435(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.783C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000222390 |
| Start |
81702613:81702613(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2155delA |
| AA Mutation |
p.Ile719LeufsTer3(p.I719Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |