| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297991 |
| Start |
33442857:33442857(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.487G>C |
| AA Mutation |
p.Asp163His(p.D163H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297991 |
| Start |
33442936:33442936(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.408delT |
| AA Mutation |
p.Phe136LeufsTer22(p.F136Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000297991 |
| Start |
33442485:33442486(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.524_525dupTG |
| AA Mutation |
p.Leu176CysfsTer89(p.L176Cfs*89) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |