| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160041952G>T | CA254186 | KCNJ10 | c.553C>A n.95-2604C>A c.487+94C>A (n.487+94C>A) c.581C>A (p.Pro194His) c.303C>A c.551C>A (p.Pro184His) c.6C>A n.344C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.160041952G= | CA1141581121 | KCNJ10 | c.553C= n.95-2604C= c.487+94C= (n.487+94C=) c.581C= (p.Pro194=) c.303C= c.551C= (p.Pro184=) c.6C= n.344C= | dbSNP |