| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269856 |
| Start |
4792875:4792875(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1025delC |
| AA Mutation |
p.Pro342HisfsTer22(p.P342Hfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269856 |
| Start |
4792749:4792749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.895G>T |
| AA Mutation |
p.Glu299Ter(p.E299*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269856 |
| Start |
4793736:4793737(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1886dupG |
| AA Mutation |
p.Thr630TyrfsTer20(p.T630Yfs*20) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |