| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.75890237C>T | CA10576708 | MYO6 | c.2839C>T (p.Arg947Ter) c.2848C>T (p.Arg950Ter) c.*946C>T (n.*946C>T) c.28C>T (p.Arg10Ter) c.2824C>T (p.Arg942Ter) n.3164C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.75890237C>A | CA450941680 | MYO6 | c.2839C>A (p.Arg947=) c.2848C>A (p.Arg950=) c.*946C>A (n.*946C>A) c.28C>A (p.Arg10=) c.2824C>A (p.Arg942=) n.3164C>A | dbSNP gnomAD v3 gnomAD v4 |