| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000336375 |
| Start |
132349981:132349981(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.843A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000336375 |
| Start |
132317521:132317521(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.71delT |
| AA Mutation |
p.Phe24SerfsTer3(p.F24Sfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000336375 |
| Start |
132352824:132352824(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.968+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |