| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000307720 |
| Start |
158709754:158709754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1095T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000307720 |
| Start |
158715366:158715366(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.683delA |
| AA Mutation |
p.Asn228ThrfsTer23(p.N228Tfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000307720 |
| Start |
158723202:158723202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.85+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |