| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44339310del | CA16609231 | PREPL | c.540del (p.Met181Ter) c.807del (p.Met270Ter) | ClinVar dbSNP |
| 2 | g.44339309_44339310dup | CA2494231220 | PREPL | c.539_540dup (p.Met181LeufsTer2) c.806_807dup (p.Met270LeufsTer2) | ClinVar dbSNP |