| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000362003 |
| Start |
737505:737505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.246A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000362003 |
| Start |
735010:735010(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193delC |
| AA Mutation |
p.Leu65CysfsTer26(p.L65Cfs*26) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000362003 |
| Start |
761387:761387(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.576delA |
| AA Mutation |
p.Lys192AsnfsTer74(p.K192Nfs*74) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |