| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000272322 |
| Start |
63916926:63916926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374339034
|
| CDS Mutation |
c.2202C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000272322 |
| Start |
63947415:63947415(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1213delA |
| AA Mutation |
p.Met405TrpfsTer13(p.M405Wfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000272322 |
| Start |
63962086:63962086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.982C>T |
| AA Mutation |
p.Gln328Ter(p.Q328*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |