| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.90404693C>G | CA186015 | CALM1 | c.426C>G (p.Phe142Leu) c.318C>G (p.Phe106Leu) c.429C>G (p.Phe143Leu) c.298C>G (n.298C>G) c.*67C>G (n.*67C>G) n.2556C>G n.478C>G n.352C>G c.228C>G (p.Phe76Leu) | ClinVar dbSNP |
| 14 | g.90404693C>T | CA7305829 | CALM1 | c.426C>T (p.Phe142=) c.318C>T (p.Phe106=) c.429C>T (p.Phe143=) c.298C>T (n.298C>T) c.*67C>T (n.*67C>T) n.2556C>T n.478C>T n.352C>T c.228C>T (p.Phe76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90404693C>A | CA390690455 | CALM1 | c.426C>A (p.Phe142Leu) c.318C>A (p.Phe106Leu) c.429C>A (p.Phe143Leu) c.298C>A (n.298C>A) c.*67C>A (n.*67C>A) n.2556C>A n.478C>A n.352C>A c.228C>A (p.Phe76Leu) | ClinVar dbSNP |