| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157471733G>A | CA3534666 | ADAM19,NIPAL4 | c.502G>A (p.Gly168Arg) c.445G>A (p.Gly149Arg) c.688G>A (p.Gly230Arg) c.631G>A (p.Gly211Arg) c.*1741+16532C>T (n.*1741+16532C>T) c.600G>A (n.600G>A) c.193G>A (p.Gly65Arg) c.-12G>A (n.-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157471733G= | CA1594187464 | ADAM19,NIPAL4 | c.502G= (p.Gly168=) c.445G= (p.Gly149=) c.688G= (p.Gly230=) c.631G= (p.Gly211=) c.*1741+16532C= (n.*1741+16532C=) c.600G= (n.600G=) c.193G= (p.Gly65=) c.-12G= (n.-12G=) | dbSNP |