| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387211G>C | CA379770134 | KCNJ11 | c.620C>G (p.Thr207Arg) c.881C>G (p.Thr294Arg) n.1039C>G | dbSNP |
| 11 | g.17387211G>A | CA276941 | KCNJ11 | c.620C>T (p.Thr207Met) c.881C>T (p.Thr294Met) n.1039C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387211G= | CA1955119168 | KCNJ11 | c.620C= (p.Thr207=) c.881C= (p.Thr294=) n.1039C= | dbSNP |