| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000597629 |
| Start |
39408309:39408309(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.609A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000597629 |
| Start |
39408079:39408079(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.382delG |
| AA Mutation |
p.Ala128ProfsTer244(p.A128Pfs*244) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000597629 |
| Start |
39408431:39408431(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.736delC |
| AA Mutation |
p.Leu246TrpfsTer126(p.L246Wfs*126) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |