| ID |
8 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000215057 |
| Start |
58563019:58563019(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1258G>T |
| AA Mutation |
p.Gly420Cys(p.G420C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000215057 |
| Start |
58570449:58570450(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.474_475delTG |
| AA Mutation |
p.Glu159AlafsTer13(p.E159Afs*13) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000215057 |
| Start |
58562447:58562449(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1828_1830delCTC |
| AA Mutation |
p.Leu610del(p.L610del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |