| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393847 |
| Start |
67991951:67991951(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.549C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393847 |
| Start |
67987565:67987565(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1402delC |
| AA Mutation |
p.His468ThrfsTer51(p.H468Tfs*51) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393847 |
| Start |
67987730:67987731(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1236dupC |
| AA Mutation |
p.Glu414GlyfsTer7(p.E414Gfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |