| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.889199G>T | CA6383167 | WNK1 | c.5424G>T (p.Met1808Ile) c.6180G>T (p.Met2060Ile) c.4203G>T (p.Met1401Ile) c.2871G>T (p.Met957Ile) c.6663G>T (p.Met2221Ile) c.4683G>T (p.Met1561Ile) c.6204G>T (p.Met2068Ile) c.5421G>T (p.Met1807Ile) c.6660G>T (p.Met2220Ile) c.6384G>T (p.Met2128Ile) c.6201G>T (p.Met2067Ile) c.5925G>T (p.Met1975Ile) c.5922G>T (p.Met1974Ile) c.5442G>T (p.Met1814Ile) c.5340G>T (p.Met1780Ile) c.5337G>T (p.Met1779Ile) c.4602G>T (p.Met1534Ile) c.4599G>T (p.Met1533Ile) c.4962G>T (p.Met1654Ile) c.4881G>T (p.Met1627Ile) c.4878G>T (p.Met1626Ile) c.4686G>T (p.Met1562Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.889199G= | CA2011734403 | WNK1 | c.5424G= (p.Met1808=) c.6180G= (p.Met2060=) c.4203G= (p.Met1401=) c.2871G= (p.Met957=) c.6663G= (p.Met2221=) c.4683G= (p.Met1561=) c.6204G= (p.Met2068=) c.5421G= (p.Met1807=) c.6660G= (p.Met2220=) c.6384G= (p.Met2128=) c.6201G= (p.Met2067=) c.5925G= (p.Met1975=) c.5922G= (p.Met1974=) c.5442G= (p.Met1814=) c.5340G= (p.Met1780=) c.5337G= (p.Met1779=) c.4602G= (p.Met1534=) c.4599G= (p.Met1533=) c.4962G= (p.Met1654=) c.4881G= (p.Met1627=) c.4878G= (p.Met1626=) c.4686G= (p.Met1562=) | dbSNP |