| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000542285 |
| Start |
7081072:7081072(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1578G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000542285 |
| Start |
7089414:7089414(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.647delC |
| AA Mutation |
p.Pro216LeufsTer100(p.P216Lfs*100) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000542285 |
| Start |
7089414:7089415(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.646_647delCC |
| AA Mutation |
p.Pro216Ter(p.P216*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |