| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3494412del | CA16041826 | ASPA,SPATA22 | c.697del (p.Arg233GlyfsTer?) c.-74+19004del (n.-74+19004del) c.-74+19203del (n.-74+19203del) n.872del | ClinVar dbSNP gnomAD v4 |
| 17 | g.3494412dup | CA1139532427 | ASPA,SPATA22 | c.697dup (p.Arg233ProfsTer3) c.-74+19004dup (n.-74+19004dup) c.-74+19203dup (n.-74+19203dup) n.872dup | ClinVar dbSNP |