| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252603 |
| Start |
17516229:17516229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754228330
|
| CDS Mutation |
c.345C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000252603 |
| Start |
17521033:17521033(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779076948
|
| CDS Mutation |
c.729G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000252603 |
| Start |
17516211:17516211(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.328delG |
| AA Mutation |
p.Val110Ter(p.V110*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |