| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262293 |
| Start |
59197557:59197557(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.871A>T |
| AA Mutation |
p.Ser291Cys(p.S291C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262293 |
| Start |
59169810:59169810(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs753236928
|
| CDS Mutation |
c.66delA |
| AA Mutation |
p.Glu23LysfsTer9(p.E23Kfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262293 |
| Start |
59169810:59169811(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.65_66delAA |
| AA Mutation |
p.Lys22ArgfsTer46(p.K22Rfs*46) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |