| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000616198 |
| Start |
178116267:178116267(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.306delC |
| AA Mutation |
p.Phe102LeufsTer25(p.F102Lfs*25) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000616198 |
| Start |
178121297:178121297(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.801delT |
| AA Mutation |
p.Phe267LeufsTer3(p.F267Lfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000616198 |
| Start |
178118130:178118130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.499C>T |
| AA Mutation |
p.Arg167Ter(p.R167*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |