| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354185 |
| Start |
68956282:68956282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.57A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354185 |
| Start |
68973598:68973598(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1606delG |
| AA Mutation |
p.Val536CysfsTer14(p.V536Cfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354185 |
| Start |
68959811:68959812(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.99dupA |
| AA Mutation |
p.Glu34ArgfsTer6(p.E34Rfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |