| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17386938G>A | CA5902170 | KCNJ11 | c.893C>T (p.Ser298Phe) c.1154C>T (p.Ser385Phe) n.1312C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.17386938G>C | CA172322 | KCNJ11 | c.893C>G (p.Ser298Cys) c.1154C>G (p.Ser385Cys) n.1312C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17386938G= | CA1955119039 | KCNJ11 | c.893C= (p.Ser298=) c.1154C= (p.Ser385=) n.1312C= | dbSNP |