| ID |
1 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715491:44715492(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.137_138delAT |
| AA Mutation |
p.Tyr46CysfsTer10(p.Y46Cfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000558401 |
| Start |
44715600:44715603(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.248_251delATCT |
| AA Mutation |
p.Tyr83SerfsTer19(p.Y83Sfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000558401 |
| Start |
44711547:44711547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1A>T |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |