| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3494408C>T | CA202975 | ASPA,SPATA22 | c.693C>T (p.Tyr231=) c.-74+19004G>A (n.-74+19004G>A) c.-74+19203G>A (n.-74+19203G>A) n.868C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3494408C>A | CA340003 | ASPA,SPATA22 | c.693C>A (p.Tyr231Ter) c.-74+19004G>T (n.-74+19004G>T) c.-74+19203G>T (n.-74+19203G>T) n.868C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |