| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000232607 |
| Start |
124743973:124743973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs112541424
|
| CDS Mutation |
c.1332C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232607 |
| Start |
124738223:124738224(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.971dupA |
| AA Mutation |
p.Gln325AlafsTer3(p.Q325Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232607 |
| Start |
124737788:124737789(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.535dupA |
| AA Mutation |
p.Met179AsnfsTer12(p.M179Nfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |