| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000330513 |
| Start |
3452126:3452126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.147C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000330513 |
| Start |
3452103:3452103(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.127delT |
| AA Mutation |
p.Ser43ProfsTer91(p.S43Pfs*91) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000330513 |
| Start |
3457627:3457635(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.893_901delGTCCATCAG |
| AA Mutation |
p.Arg298_Val301delinsLeu(p.R298_V301delinsL) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |