| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.885321G>A | CA383331381 | WNK1 | c.4517G>A (p.Cys1506Tyr) c.5273G>A (p.Cys1758Tyr) n.3412G>A c.3296G>A (p.Cys1099Tyr) c.1964G>A (p.Cys655Tyr) c.5756G>A (p.Cys1919Tyr) c.3776G>A (p.Cys1259Tyr) c.5297G>A (p.Cys1766Tyr) c.4514G>A (p.Cys1505Tyr) c.5753G>A (p.Cys1918Tyr) c.5477G>A (p.Cys1826Tyr) c.5294G>A (p.Cys1765Tyr) c.5018G>A (p.Cys1673Tyr) c.5015G>A (p.Cys1672Tyr) c.4535G>A (p.Cys1512Tyr) c.4433G>A (p.Cys1478Tyr) c.4430G>A (p.Cys1477Tyr) c.3695G>A (p.Cys1232Tyr) c.3692G>A (p.Cys1231Tyr) c.4055G>A (p.Cys1352Tyr) c.3974G>A (p.Cys1325Tyr) c.3971G>A (p.Cys1324Tyr) c.3779G>A (p.Cys1260Tyr) | dbSNP gnomAD v4 |
| 12 | g.885321G>T | CA383331382 | WNK1 | c.4517G>T (p.Cys1506Phe) c.5273G>T (p.Cys1758Phe) n.3412G>T c.3296G>T (p.Cys1099Phe) c.1964G>T (p.Cys655Phe) c.5756G>T (p.Cys1919Phe) c.3776G>T (p.Cys1259Phe) c.5297G>T (p.Cys1766Phe) c.4514G>T (p.Cys1505Phe) c.5753G>T (p.Cys1918Phe) c.5477G>T (p.Cys1826Phe) c.5294G>T (p.Cys1765Phe) c.5018G>T (p.Cys1673Phe) c.5015G>T (p.Cys1672Phe) c.4535G>T (p.Cys1512Phe) c.4433G>T (p.Cys1478Phe) c.4430G>T (p.Cys1477Phe) c.3695G>T (p.Cys1232Phe) c.3692G>T (p.Cys1231Phe) c.4055G>T (p.Cys1352Phe) c.3974G>T (p.Cys1325Phe) c.3971G>T (p.Cys1324Phe) c.3779G>T (p.Cys1260Phe) | dbSNP |
| 12 | g.885321G>C | CA6382988 | WNK1 | c.4517G>C (p.Cys1506Ser) c.5273G>C (p.Cys1758Ser) n.3412G>C c.3296G>C (p.Cys1099Ser) c.1964G>C (p.Cys655Ser) c.5756G>C (p.Cys1919Ser) c.3776G>C (p.Cys1259Ser) c.5297G>C (p.Cys1766Ser) c.4514G>C (p.Cys1505Ser) c.5753G>C (p.Cys1918Ser) c.5477G>C (p.Cys1826Ser) c.5294G>C (p.Cys1765Ser) c.5018G>C (p.Cys1673Ser) c.5015G>C (p.Cys1672Ser) c.4535G>C (p.Cys1512Ser) c.4433G>C (p.Cys1478Ser) c.4430G>C (p.Cys1477Ser) c.3695G>C (p.Cys1232Ser) c.3692G>C (p.Cys1231Ser) c.4055G>C (p.Cys1352Ser) c.3974G>C (p.Cys1325Ser) c.3971G>C (p.Cys1324Ser) c.3779G>C (p.Cys1260Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |