| ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393045 |
| Start |
145856602:145856602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.429G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393045 |
| Start |
145856678:145856678(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.353delC |
| AA Mutation |
p.Pro118LeufsTer12(p.P118Lfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393045 |
| Start |
145854872:145854872(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.678delT |
| AA Mutation |
p.Pro228GlnfsTer50(p.P228Qfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |