| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399154 |
| Start |
57542699:57542699(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776778790
|
| CDS Mutation |
c.57G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399154 |
| Start |
57546335:57546335(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1071delA |
| AA Mutation |
p.Lys357AsnfsTer96(p.K357Nfs*96) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399154 |
| Start |
57542842:57542843(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.205dupG |
| AA Mutation |
p.Glu69GlyfsTer7(p.E69Gfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |