| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000261646 |
| Start |
17820313:17820313(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.300C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261646 |
| Start |
17817728:17817728(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1372delG |
| AA Mutation |
p.Glu458SerfsTer240(p.E458Sfs*240) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261646 |
| Start |
17820295:17820299(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.314_318delCTCCA |
| AA Mutation |
p.Thr105IlefsTer226(p.T105Ifs*226) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |