| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263233 |
| Start |
49191686:49191686(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782476896
|
| CDS Mutation |
c.693G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263233 |
| Start |
49191653:49191653(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.726A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000263233 |
| Start |
49194320:49194320(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.269delG |
| AA Mutation |
p.Gly90AlafsTer7(p.G90Afs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |