| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44826748:44826748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751579508
|
| CDS Mutation |
c.2716G>C |
| AA Mutation |
p.Glu906Gln(p.E906Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44826638:44826638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2826G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372192 |
| Start |
44829236:44829236(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1292delT |
| AA Mutation |
p.Leu431ArgfsTer103(p.L431Rfs*103) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |