| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342203 |
| Start |
84664487:84664487(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603delA |
| AA Mutation |
p.Glu202SerfsTer7(p.E202Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000342203 |
| Start |
84671177:84671177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.43G>T |
| AA Mutation |
p.Glu15Ter(p.E15*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000342203 |
| Start |
84662376:84662376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.750-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |