| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000235382 |
| Start |
192811558:192811558(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.602delA |
| AA Mutation |
p.Lys201SerfsTer14(p.K201Sfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000235382 |
| Start |
192809082:192809083(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.13_14dupAT |
| AA Mutation |
p.Met5IlefsTer30(p.M5Ifs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000235382 |
| Start |
192810432:192810433(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.274+2dupT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |