| 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 |
| 12 | g.881746A= | CA2011727727 | WNK1 | c.3166A= (p.Thr1056=) c.3922A= (p.Thr1308=) n.3763A= n.2061A= c.1945A= (p.Thr649=) c.613A= (p.Thr205=) c.4405A= (p.Thr1469=) c.2425A= (p.Thr809=) c.3946A= (p.Thr1316=) n.402A= c.395A= n.276A= c.3163A= (p.Thr1055=) c.4402A= (p.Thr1468=) c.4126A= (p.Thr1376=) c.3943A= (p.Thr1315=) c.3667A= (p.Thr1223=) c.3664A= (p.Thr1222=) c.3184A= (p.Thr1062=) c.3082A= (p.Thr1028=) c.3079A= (p.Thr1027=) c.2344A= (p.Thr782=) c.2341A= (p.Thr781=) c.2704A= (p.Thr902=) c.2623A= (p.Thr875=) c.2620A= (p.Thr874=) c.2428A= (p.Thr810=) | dbSNP |
| 12 | g.881746A>G | CA383327629 | WNK1 | c.3166A>G (p.Thr1056Ala) c.3922A>G (p.Thr1308Ala) n.3763A>G n.2061A>G c.1945A>G (p.Thr649Ala) c.613A>G (p.Thr205Ala) c.4405A>G (p.Thr1469Ala) c.2425A>G (p.Thr809Ala) c.3946A>G (p.Thr1316Ala) n.402A>G c.395A>G n.276A>G c.3163A>G (p.Thr1055Ala) c.4402A>G (p.Thr1468Ala) c.4126A>G (p.Thr1376Ala) c.3943A>G (p.Thr1315Ala) c.3667A>G (p.Thr1223Ala) c.3664A>G (p.Thr1222Ala) c.3184A>G (p.Thr1062Ala) c.3082A>G (p.Thr1028Ala) c.3079A>G (p.Thr1027Ala) c.2344A>G (p.Thr782Ala) c.2341A>G (p.Thr781Ala) c.2704A>G (p.Thr902Ala) c.2623A>G (p.Thr875Ala) c.2620A>G (p.Thr874Ala) c.2428A>G (p.Thr810Ala) | dbSNP gnomAD v4 |