| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333511 |
| Start |
577839:577839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.133G>A |
| AA Mutation |
p.Glu45Lys(p.E45K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333511 |
| Start |
580689:580689(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.699C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333511 |
| Start |
579603:579603(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.524delG |
| AA Mutation |
p.Gly175AlafsTer4(p.G175Afs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |