| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84840372C>T | CA7709121 | ALPK3 | c.1093C>T (p.Gln365Ter) c.1699C>T (p.Gln567Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.84840372C= | CA2192368316 | ALPK3 | c.1093C= (p.Gln365=) c.1699C= (p.Gln567=) | dbSNP |
| 15 | g.84840372C>A | CA393374391 | ALPK3 | c.1093C>A (p.Gln365Lys) c.1699C>A (p.Gln567Lys) | ClinVar dbSNP gnomAD v4 |