| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31462770A>G | CA8029628 | ARMC5 | c.1223A>G (p.Gln408Arg) c.1508A>G (p.Gln503Arg) c.731A>G (p.Gln244Arg) c.213-2A>G c.1319A>G (p.Gln440Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31462770A= | CA2217060769 | ARMC5 | c.1223A= (p.Gln408=) c.1508A= (p.Gln503=) c.731A= (p.Gln244=) c.213-2A= c.1319A= (p.Gln440=) | dbSNP |