| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333003 |
| Start |
95049107:95049107(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1092delA |
| AA Mutation |
p.Glu365ArgfsTer10(p.E365Rfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333003 |
| Start |
95025224:95025225(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1562_1563delTA |
| AA Mutation |
p.Ile521ArgfsTer22(p.I521Rfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000333003 |
| Start |
95022358:95022359(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1682_1683insACAACCGAA |
| AA Mutation |
p.Met560_Asn561insLysGlnPro(p.M560_N561insKQP) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |