| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296522 |
| Start |
174492077:174492077(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.680delA |
| AA Mutation |
p.Asn227MetfsTer3(p.N227Mfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296522 |
| Start |
174517988:174517988(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.307delA |
| AA Mutation |
p.Thr103LeufsTer20(p.T103Lfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000296522 |
| Start |
174492095:174492095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.663-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |