Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.881746A>T | CA383327631 | WNK1 | c.3166A>T (p.Thr1056Ser) c.3922A>T (p.Thr1308Ser) n.3763A>T n.2061A>T c.1945A>T (p.Thr649Ser) c.613A>T (p.Thr205Ser) c.4405A>T (p.Thr1469Ser) c.2425A>T (p.Thr809Ser) c.3946A>T (p.Thr1316Ser) n.402A>T c.395A>T n.276A>T c.3163A>T (p.Thr1055Ser) c.4402A>T (p.Thr1468Ser) c.4126A>T (p.Thr1376Ser) c.3943A>T (p.Thr1315Ser) c.3667A>T (p.Thr1223Ser) c.3664A>T (p.Thr1222Ser) c.3184A>T (p.Thr1062Ser) c.3082A>T (p.Thr1028Ser) c.3079A>T (p.Thr1027Ser) c.2344A>T (p.Thr782Ser) c.2341A>T (p.Thr781Ser) c.2704A>T (p.Thr902Ser) c.2623A>T (p.Thr875Ser) c.2620A>T (p.Thr874Ser) c.2428A>T (p.Thr810Ser) | dbSNP |
12 | g.881746A>C | CA6382677 | WNK1 | c.3166A>C (p.Thr1056Pro) c.3922A>C (p.Thr1308Pro) n.3763A>C n.2061A>C c.1945A>C (p.Thr649Pro) c.613A>C (p.Thr205Pro) c.4405A>C (p.Thr1469Pro) c.2425A>C (p.Thr809Pro) c.3946A>C (p.Thr1316Pro) n.402A>C c.395A>C n.276A>C c.3163A>C (p.Thr1055Pro) c.4402A>C (p.Thr1468Pro) c.4126A>C (p.Thr1376Pro) c.3943A>C (p.Thr1315Pro) c.3667A>C (p.Thr1223Pro) c.3664A>C (p.Thr1222Pro) c.3184A>C (p.Thr1062Pro) c.3082A>C (p.Thr1028Pro) c.3079A>C (p.Thr1027Pro) c.2344A>C (p.Thr782Pro) c.2341A>C (p.Thr781Pro) c.2704A>C (p.Thr902Pro) c.2623A>C (p.Thr875Pro) c.2620A>C (p.Thr874Pro) c.2428A>C (p.Thr810Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |