| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286574 |
| Start |
65068778:65068778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.524A>T |
| AA Mutation |
p.Lys175Ile(p.K175I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000286574 |
| Start |
65062521:65062521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.786T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000286574 |
| Start |
65120507:65120507(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.198delT |
| AA Mutation |
p.Phe66LeufsTer22(p.F66Lfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |