| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.109141468_109141470dup | CA1871446116 | FRRS1L | c.584_586dup (p.Gly195_Val196insGly) n.2819_2821dup c.581_583dup c.364_366dup (n.364_366dup) n.1335_1337dup c.737_739dup (p.Gly246_Val247insGly) c.389_391dup (p.Gly130_Val131insGly) | dbSNP |
| 9 | g.109141468_109141470del | CA10575814 | FRRS1L | c.584_586del (p.Gly195del) n.2819_2821del c.581_583del c.364_366del (n.364_366del) n.1335_1337del c.737_739del (p.Gly246del) c.389_391del (p.Gly130del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |