| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160042033G>A | CA118812 | KCNJ10 | c.472C>T n.95-2685C>T c.487+13C>T (n.487+13C>T) c.500C>T (p.Ala167Val) c.222C>T c.470C>T (p.Ala157Val) n.263C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160042033G= | CA1141581122 | KCNJ10 | c.472C= n.95-2685C= c.487+13C= (n.487+13C=) c.500C= (p.Ala167=) c.222C= c.470C= (p.Ala157=) n.263C= | dbSNP |