| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356524 |
| Start |
18269293:18269293(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.190A>G |
| AA Mutation |
p.Lys64Glu(p.K64E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356524 |
| Start |
18269273:18269273(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs772901303
|
| CDS Mutation |
c.174delG |
| AA Mutation |
p.Asn59ThrfsTer17(p.N59Tfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356524 |
| Start |
18269767:18269768(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.281_282insA |
| AA Mutation |
p.Leu95AlafsTer3(p.L95Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |