| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233146 |
| Start |
47429839:47429839(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1175delA |
| AA Mutation |
p.Lys392ArgfsTer20(p.K392Rfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000233146 |
| Start |
47403248:47403248(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.57delC |
| AA Mutation |
p.Phe19LeufsTer45(p.F19Lfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000233146 |
| Start |
47429889:47429889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1224T>G |
| AA Mutation |
p.Tyr408Ter(p.Y408*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |