| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.90401385A>G | CA390689493 | CALM1 | c.161A>G (p.Asn54Ser) c.53A>G (p.Asn18Ser) c.164A>G (p.Asn55Ser) n.2291A>G n.360A>G n.245A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.90401385A>T | CA343809 | CALM1 | c.161A>T (p.Asn54Ile) c.53A>T (p.Asn18Ile) c.164A>T (p.Asn55Ile) n.2291A>T n.360A>T n.245A>T | ClinVar dbSNP |