| ID |
7 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000375001 |
| Start |
99067054:99067055(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3824_3825insCATAGCTGTTTCCTGAGC |
| AA Mutation |
p.Ile1275_Val1276insIleAlaValSerTerAla(p.I1275_V1276insIAVS*A) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375001 |
| Start |
99036324:99036325(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2337_2338insT |
| AA Mutation |
p.Met780TyrfsTer24(p.M780Yfs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000375001 |
| Start |
99067053:99067054(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3823_3824insG |
| AA Mutation |
p.Ile1275SerfsTer11(p.I1275Sfs*11) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |