| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296509 |
| Start |
120066703:120066703(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.32T>A |
| AA Mutation |
p.Ile11Asn(p.I11N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296509 |
| Start |
120060238:120060238(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.498delA |
| AA Mutation |
p.Lys166AsnfsTer28(p.K166Nfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296509 |
| Start |
120060173:120060173(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.563delC |
| AA Mutation |
p.Thr188IlefsTer6(p.T188Ifs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |