| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36935132:36935132(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.406A>T |
| AA Mutation |
p.Ile136Phe(p.I136F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36893026:36893026(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1787delA |
| AA Mutation |
p.Lys596ArgfsTer35(p.K596Rfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262878 |
| Start |
36905376:36905377(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1397dupT |
| AA Mutation |
p.Ile468AspfsTer2(p.I468Dfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |