Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.878316G>T | CA6382443 | WNK1 | c.2328G>T (p.Gln776His) c.3822G>T (p.Gln1274His) n.2925G>T n.1223G>T c.1107G>T (p.Gln369His) c.513G>T (p.Gln171His) c.3567G>T (p.Gln1189His) c.2325G>T (p.Gln775His) c.138G>T (p.Gln46His) n.302G>T c.295G>T c.286G>T c.3564G>T (p.Gln1188His) c.2346G>T (p.Gln782His) c.2244G>T (p.Gln748His) c.2241G>T (p.Gln747His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.878316G>A | CA6382442 | WNK1 | c.2328G>A (p.Gln776=) c.3822G>A (p.Gln1274=) n.2925G>A n.1223G>A c.1107G>A (p.Gln369=) c.513G>A (p.Gln171=) c.3567G>A (p.Gln1189=) c.2325G>A (p.Gln775=) c.138G>A (p.Gln46=) n.302G>A c.295G>A c.286G>A c.3564G>A (p.Gln1188=) c.2346G>A (p.Gln782=) c.2244G>A (p.Gln748=) c.2241G>A (p.Gln747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.878316G>C | CA231474460 | WNK1 | c.2328G>C (p.Gln776His) c.3822G>C (p.Gln1274His) n.2925G>C n.1223G>C c.1107G>C (p.Gln369His) c.513G>C (p.Gln171His) c.3567G>C (p.Gln1189His) c.2325G>C (p.Gln775His) c.138G>C (p.Gln46His) n.302G>C c.295G>C c.286G>C c.3564G>C (p.Gln1188His) c.2346G>C (p.Gln782His) c.2244G>C (p.Gln748His) c.2241G>C (p.Gln747His) | dbSNP gnomAD v4 |