| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000232217 |
| Start |
139454768:139454768(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141722744
|
| CDS Mutation |
c.315C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232217 |
| Start |
139454743:139454743(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.340delG |
| AA Mutation |
p.Asp114ThrfsTer7(p.D114Tfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000232217 |
| Start |
139454791:139454792(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290_291dupTG |
| AA Mutation |
p.Gln98CysfsTer24(p.Q98Cfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |