| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000246891 |
| Start |
69939187:69939187(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.255C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000246891 |
| Start |
69944977:69944977(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.536delA |
| AA Mutation |
p.Asn179IlefsTer16(p.N179Ifs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000246891 |
| Start |
69945006:69945006(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.557+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |