| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1207093:1207093(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.180delC |
| AA Mutation |
p.Tyr60Ter(p.Y60*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1221314:1221315(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.842dupC |
| AA Mutation |
p.Leu282AlafsTer3(p.L282Afs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1207205:1207205(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.290+2delT |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |