| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000247843 |
| Start |
69390244:69390244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247843 |
| Start |
69390194:69390194(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.568delA |
| AA Mutation |
p.Thr190GlnfsTer12(p.T190Qfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247843 |
| Start |
69390265:69390265(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.638delA |
| AA Mutation |
p.Asn213MetfsTer20(p.N213Mfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |