Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84840114G>T | CA16606804 | ALPK3 | c.835G>T (p.Glu279Ter) c.1441G>T (p.Glu481Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84840114G= | CA2192368201 | ALPK3 | c.835G= (p.Glu279=) c.1441G= (p.Glu481=) | dbSNP |