| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.44267585C>T | CA380182028 | ALX4 | c.815G>A (p.Arg272Gln) c.293G>A (p.Arg98Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44267585C>G | CA253386 | ALX4 | c.815G>C (p.Arg272Pro) c.293G>C (p.Arg98Pro) | ClinVar dbSNP |
| 11 | g.44267585C= | CA1967918994 | ALX4 | c.815G= (p.Arg272=) c.293G= (p.Arg98=) | dbSNP |