| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377102 |
| Start |
80337534:80337534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.172G>T |
| AA Mutation |
p.Gly58Trp(p.G58W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377102 |
| Start |
80337316:80337316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.390C>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377102 |
| Start |
80337106:80337106(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.600delC |
| AA Mutation |
p.Cys201AlafsTer12(p.C201Afs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |