| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000353801 |
| Start |
44251089:44251089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs2070694
|
| CDS Mutation |
c.999A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000353801 |
| Start |
44251867:44251867(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1446delC |
| AA Mutation |
p.Ile483SerfsTer31(p.I483Sfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000353801 |
| Start |
44253564:44253565(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2144_2145insTTGA |
| AA Mutation |
p.Glu715AspfsTer2(p.E715Dfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |