| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160042042G>A | CA118811 | KCNJ10 | c.463C>T n.95-2694C>T c.487+4C>T (n.487+4C>T) c.491C>T (p.Thr164Ile) c.213C>T c.461C>T (p.Thr154Ile) n.254C>T | ClinVar dbSNP |
| 1 | g.160042042G= | CA1141581123 | KCNJ10 | c.463C= n.95-2694C= c.487+4C= (n.487+4C=) c.491C= (p.Thr164=) c.213C= c.461C= (p.Thr154=) n.254C= | dbSNP |