| ID |
3 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68231483:68231498(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1526_1541delTGGTGCTCAACCAGCA |
| AA Mutation |
p.Met509ArgfsTer12(p.M509Rfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000565858 |
| Start |
68230535:68230536(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1929-4_1947dupCTAGCCCCCCAGTCTCCCCCACC |
| AA Mutation |
p.Thr650LeufsTer46(p.T650Lfs*46) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |