| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.52397434T>C | CA490420001 | MYO5A | c.1086A>G (p.Glu362=) c.978A>G (p.Glu326=) c.*770A>G (n.*770A>G) c.945A>G (p.Glu315=) n.521A>G n.2770A>G n.728A>G c.140A>G c.1092A>G (p.Glu364=) c.1158A>G (p.Glu386=) c.1050A>G (p.Glu350=) | dbSNP |
| 15 | g.52397434T>G | CA7569047 | MYO5A | c.1086A>C (p.Glu362Asp) c.978A>C (p.Glu326Asp) c.*770A>C (n.*770A>C) c.945A>C (p.Glu315Asp) n.521A>C n.2770A>C n.728A>C c.140A>C c.1092A>C (p.Glu364Asp) c.1158A>C (p.Glu386Asp) c.1050A>C (p.Glu350Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |