| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157468728C>A | CA251939 | ADAM19,NIPAL4 | c.341C>A (p.Ala114Asp) c.284C>A (p.Ala95Asp) c.527C>A (p.Ala176Asp) c.470C>A (p.Ala157Asp) c.*1741+19537G>T (n.*1741+19537G>T) c.439C>A (n.439C>A) n.555C>A c.32C>A (p.Ala11Asp) c.-173C>A (n.-173C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157468728C>G | CA3534619 | ADAM19,NIPAL4 | c.341C>G (p.Ala114Gly) c.284C>G (p.Ala95Gly) c.527C>G (p.Ala176Gly) c.470C>G (p.Ala157Gly) c.*1741+19537G>C (n.*1741+19537G>C) c.439C>G (n.439C>G) n.555C>G c.32C>G (p.Ala11Gly) c.-173C>G (n.-173C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.157468728C= | CA1594185302 | ADAM19,NIPAL4 | c.341C= (p.Ala114=) c.284C= (p.Ala95=) c.527C= (p.Ala176=) c.470C= (p.Ala157=) c.*1741+19537G= (n.*1741+19537G=) c.439C= (n.439C=) n.555C= c.32C= (p.Ala11=) c.-173C= (n.-173C=) | dbSNP |