| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118815604:118815604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2652A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316316 |
| Start |
118826229:118826229(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1879C>T |
| AA Mutation |
p.Gln627Ter(p.Q627*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316316 |
| Start |
118815329:118815330(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2926dupT |
| AA Mutation |
p.Ser976PhefsTer14(p.S976Ffs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |