| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316594 |
| Start |
101412869:101412869(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.885delG |
| AA Mutation |
p.Leu296TyrfsTer20(p.L296Yfs*20) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316594 |
| Start |
101413124:101413124(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1142delT |
| AA Mutation |
p.Leu381Ter(p.L381*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316594 |
| Start |
101412436:101412436(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.448C>T |
| AA Mutation |
p.Arg150Ter(p.R150*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |