| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262982 |
| Start |
49094177:49094177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2485G>C |
| AA Mutation |
p.Glu829Gln(p.E829Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262982 |
| Start |
49088067:49088067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1782C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262982 |
| Start |
49094159:49094160(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2473dupA |
| AA Mutation |
p.Ile825AsnfsTer5(p.I825Nfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |