| ID |
5 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000373840 |
| Start |
121192172:121192172(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.105delA |
| AA Mutation |
p.Lys35AsnfsTer18(p.K35Nfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373840 |
| Start |
121190660:121190660(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178delA |
| AA Mutation |
p.Ile60Ter(p.I60*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000373840 |
| Start |
121181479:121181480(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.564_565insAAACCCAGTAA |
| AA Mutation |
p.Gly189LysfsTer18(p.G189Kfs*18) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |