| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1650909G>A | CA397562239 | PRPF8 | c.6721C>T (p.Pro2241Ser) c.2649C>T c.*6624C>T (n.*6624C>T) n.3215C>T c.6754C>T (p.Pro2252Ser) c.6766C>T (p.Pro2256Ser) c.6901C>T (p.Pro2301Ser) c.163-63C>T n.890C>T | ClinVar dbSNP COSMIC |
| 17 | g.1650909G>T | CA252743 | PRPF8 | c.6721C>A (p.Pro2241Thr) c.2649C>A c.*6624C>A (n.*6624C>A) n.3215C>A c.6754C>A (p.Pro2252Thr) c.6766C>A (p.Pro2256Thr) c.6901C>A (p.Pro2301Thr) c.163-63C>A n.890C>A | ClinVar dbSNP gnomAD v4 |