| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56167195:56167195(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.551delA |
| AA Mutation |
p.Lys184SerfsTer45(p.K184Sfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000316981 |
| Start |
56166373:56166373(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1373delC |
| AA Mutation |
p.Pro458HisfsTer13(p.P458Hfs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000316981 |
| Start |
56167076:56167076(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.670C>T |
| AA Mutation |
p.Arg224Ter(p.R224*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |