| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3494407A>G | CA252360 | ASPA,SPATA22 | c.692A>G (p.Tyr231Cys) c.-74+19005T>C (n.-74+19005T>C) c.-74+19204T>C (n.-74+19204T>C) n.867A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.3494407A= | CA2243892579 | ASPA,SPATA22 | c.692A= (p.Tyr231=) c.-74+19005T= (n.-74+19005T=) c.-74+19204T= (n.-74+19204T=) n.867A= | dbSNP |