| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3494355G>T | CA16041824 | ASPA,SPATA22 | c.640G>T (p.Glu214Ter) c.-74+19057C>A (n.-74+19057C>A) c.-74+19256C>A (n.-74+19256C>A) n.815G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.3494355G= | CA2243892559 | ASPA,SPATA22 | c.640G= (p.Glu214=) c.-74+19057C= (n.-74+19057C=) c.-74+19256C= (n.-74+19256C=) n.815G= | dbSNP |