Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.889134A=CA2011734325WNK1c.5365-6A= (n.5365-6A=)
c.6121-6A= (n.6121-6A=)
c.4144-6A= (n.4144-6A=)
c.2812-6A= (n.2812-6A=)
c.6604-6A= (n.6604-6A=)
c.4624-6A= (n.4624-6A=)
c.6145-6A= (n.6145-6A=)
c.5362-6A= (n.5362-6A=)
c.6601-6A= (n.6601-6A=)
c.6325-6A= (n.6325-6A=)
c.6142-6A= (n.6142-6A=)
c.5866-6A= (n.5866-6A=)
c.5863-6A= (n.5863-6A=)
c.5383-6A= (n.5383-6A=)
c.5281-6A= (n.5281-6A=)
c.5278-6A= (n.5278-6A=)
c.4543-6A= (n.4543-6A=)
c.4540-6A= (n.4540-6A=)
c.4903-6A= (n.4903-6A=)
c.4822-6A= (n.4822-6A=)
c.4819-6A= (n.4819-6A=)
c.4627-6A= (n.4627-6A=)
12g.889134A>GCA943954677WNK1c.5365-6A>G (n.5365-6A>G)
c.6121-6A>G (n.6121-6A>G)
c.4144-6A>G (n.4144-6A>G)
c.2812-6A>G (n.2812-6A>G)
c.6604-6A>G (n.6604-6A>G)
c.4624-6A>G (n.4624-6A>G)
c.6145-6A>G (n.6145-6A>G)
c.5362-6A>G (n.5362-6A>G)
c.6601-6A>G (n.6601-6A>G)
c.6325-6A>G (n.6325-6A>G)
c.6142-6A>G (n.6142-6A>G)
c.5866-6A>G (n.5866-6A>G)
c.5863-6A>G (n.5863-6A>G)
c.5383-6A>G (n.5383-6A>G)
c.5281-6A>G (n.5281-6A>G)
c.5278-6A>G (n.5278-6A>G)
c.4543-6A>G (n.4543-6A>G)
c.4540-6A>G (n.4540-6A>G)
c.4903-6A>G (n.4903-6A>G)
c.4822-6A>G (n.4822-6A>G)
c.4819-6A>G (n.4819-6A>G)
c.4627-6A>G (n.4627-6A>G)
dbSNP gnomAD v3 gnomAD v4
12g.889136T>GCA2617008156WNK1c.5365-4T>G (n.5365-4T>G)
c.6121-4T>G (n.6121-4T>G)
c.4144-4T>G (n.4144-4T>G)
c.2812-4T>G (n.2812-4T>G)
c.6604-4T>G (n.6604-4T>G)
c.4624-4T>G (n.4624-4T>G)
c.6145-4T>G (n.6145-4T>G)
c.5362-4T>G (n.5362-4T>G)
c.6601-4T>G (n.6601-4T>G)
c.6325-4T>G (n.6325-4T>G)
c.6142-4T>G (n.6142-4T>G)
c.5866-4T>G (n.5866-4T>G)
c.5863-4T>G (n.5863-4T>G)
c.5383-4T>G (n.5383-4T>G)
c.5281-4T>G (n.5281-4T>G)
c.5278-4T>G (n.5278-4T>G)
c.4543-4T>G (n.4543-4T>G)
c.4540-4T>G (n.4540-4T>G)
c.4903-4T>G (n.4903-4T>G)
c.4822-4T>G (n.4822-4T>G)
c.4819-4T>G (n.4819-4T>G)
c.4627-4T>G (n.4627-4T>G)
gnomAD v4
12g.889137C=CA2011734326WNK1c.5365-3C= (n.5365-3C=)
c.6121-3C= (n.6121-3C=)
c.4144-3C= (n.4144-3C=)
c.2812-3C= (n.2812-3C=)
c.6604-3C= (n.6604-3C=)
c.4624-3C= (n.4624-3C=)
c.6145-3C= (n.6145-3C=)
c.5362-3C= (n.5362-3C=)
c.6601-3C= (n.6601-3C=)
c.6325-3C= (n.6325-3C=)
c.6142-3C= (n.6142-3C=)
c.5866-3C= (n.5866-3C=)
c.5863-3C= (n.5863-3C=)
c.5383-3C= (n.5383-3C=)
c.5281-3C= (n.5281-3C=)
c.5278-3C= (n.5278-3C=)
c.4543-3C= (n.4543-3C=)
c.4540-3C= (n.4540-3C=)
c.4903-3C= (n.4903-3C=)
c.4822-3C= (n.4822-3C=)
c.4819-3C= (n.4819-3C=)
c.4627-3C= (n.4627-3C=)
12g.889137C>GCA602648851WNK1c.5365-3C>G (n.5365-3C>G)
c.6121-3C>G (n.6121-3C>G)
c.4144-3C>G (n.4144-3C>G)
c.2812-3C>G (n.2812-3C>G)
c.6604-3C>G (n.6604-3C>G)
c.4624-3C>G (n.4624-3C>G)
c.6145-3C>G (n.6145-3C>G)
c.5362-3C>G (n.5362-3C>G)
c.6601-3C>G (n.6601-3C>G)
c.6325-3C>G (n.6325-3C>G)
c.6142-3C>G (n.6142-3C>G)
c.5866-3C>G (n.5866-3C>G)
c.5863-3C>G (n.5863-3C>G)
c.5383-3C>G (n.5383-3C>G)
c.5281-3C>G (n.5281-3C>G)
c.5278-3C>G (n.5278-3C>G)
c.4543-3C>G (n.4543-3C>G)
c.4540-3C>G (n.4540-3C>G)
c.4903-3C>G (n.4903-3C>G)
c.4822-3C>G (n.4822-3C>G)
c.4819-3C>G (n.4819-3C>G)
c.4627-3C>G (n.4627-3C>G)
dbSNP gnomAD v2 gnomAD v4
12g.889138A>CCA383333166WNK1c.5365-2A>C (n.5365-2A>C)
c.6121-2A>C (n.6121-2A>C)
c.4144-2A>C (n.4144-2A>C)
c.2812-2A>C (n.2812-2A>C)
c.6604-2A>C (n.6604-2A>C)
c.4624-2A>C (n.4624-2A>C)
c.6145-2A>C (n.6145-2A>C)
c.5362-2A>C (n.5362-2A>C)
c.6601-2A>C (n.6601-2A>C)
c.6325-2A>C (n.6325-2A>C)
c.6142-2A>C (n.6142-2A>C)
c.5866-2A>C (n.5866-2A>C)
c.5863-2A>C (n.5863-2A>C)
c.5383-2A>C (n.5383-2A>C)
c.5281-2A>C (n.5281-2A>C)
c.5278-2A>C (n.5278-2A>C)
c.4543-2A>C (n.4543-2A>C)
c.4540-2A>C (n.4540-2A>C)
c.4903-2A>C (n.4903-2A>C)
c.4822-2A>C (n.4822-2A>C)
c.4819-2A>C (n.4819-2A>C)
c.4627-2A>C (n.4627-2A>C)
12g.889138A>GCA383333167WNK1c.5365-2A>G (n.5365-2A>G)
c.6121-2A>G (n.6121-2A>G)
c.4144-2A>G (n.4144-2A>G)
c.2812-2A>G (n.2812-2A>G)
c.6604-2A>G (n.6604-2A>G)
c.4624-2A>G (n.4624-2A>G)
c.6145-2A>G (n.6145-2A>G)
c.5362-2A>G (n.5362-2A>G)
c.6601-2A>G (n.6601-2A>G)
c.6325-2A>G (n.6325-2A>G)
c.6142-2A>G (n.6142-2A>G)
c.5866-2A>G (n.5866-2A>G)
c.5863-2A>G (n.5863-2A>G)
c.5383-2A>G (n.5383-2A>G)
c.5281-2A>G (n.5281-2A>G)
c.5278-2A>G (n.5278-2A>G)
c.4543-2A>G (n.4543-2A>G)
c.4540-2A>G (n.4540-2A>G)
c.4903-2A>G (n.4903-2A>G)
c.4822-2A>G (n.4822-2A>G)
c.4819-2A>G (n.4819-2A>G)
c.4627-2A>G (n.4627-2A>G)
12g.889138A>TCA383333165WNK1c.5365-2A>T (n.5365-2A>T)
c.6121-2A>T (n.6121-2A>T)
c.4144-2A>T (n.4144-2A>T)
c.2812-2A>T (n.2812-2A>T)
c.6604-2A>T (n.6604-2A>T)
c.4624-2A>T (n.4624-2A>T)
c.6145-2A>T (n.6145-2A>T)
c.5362-2A>T (n.5362-2A>T)
c.6601-2A>T (n.6601-2A>T)
c.6325-2A>T (n.6325-2A>T)
c.6142-2A>T (n.6142-2A>T)
c.5866-2A>T (n.5866-2A>T)
c.5863-2A>T (n.5863-2A>T)
c.5383-2A>T (n.5383-2A>T)
c.5281-2A>T (n.5281-2A>T)
c.5278-2A>T (n.5278-2A>T)
c.4543-2A>T (n.4543-2A>T)
c.4540-2A>T (n.4540-2A>T)
c.4903-2A>T (n.4903-2A>T)
c.4822-2A>T (n.4822-2A>T)
c.4819-2A>T (n.4819-2A>T)
c.4627-2A>T (n.4627-2A>T)
12g.889139G>ACA383333168WNK1c.5365-1G>A (n.5365-1G>A)
c.6121-1G>A (n.6121-1G>A)
c.4144-1G>A (n.4144-1G>A)
c.2812-1G>A (n.2812-1G>A)
c.6604-1G>A (n.6604-1G>A)
c.4624-1G>A (n.4624-1G>A)
c.6145-1G>A (n.6145-1G>A)
c.5362-1G>A (n.5362-1G>A)
c.6601-1G>A (n.6601-1G>A)
c.6325-1G>A (n.6325-1G>A)
c.6142-1G>A (n.6142-1G>A)
c.5866-1G>A (n.5866-1G>A)
c.5863-1G>A (n.5863-1G>A)
c.5383-1G>A (n.5383-1G>A)
c.5281-1G>A (n.5281-1G>A)
c.5278-1G>A (n.5278-1G>A)
c.4543-1G>A (n.4543-1G>A)
c.4540-1G>A (n.4540-1G>A)
c.4903-1G>A (n.4903-1G>A)
c.4822-1G>A (n.4822-1G>A)
c.4819-1G>A (n.4819-1G>A)
c.4627-1G>A (n.4627-1G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
12g.889139G>CCA383333169WNK1c.5365-1G>C (n.5365-1G>C)
c.6121-1G>C (n.6121-1G>C)
c.4144-1G>C (n.4144-1G>C)
c.2812-1G>C (n.2812-1G>C)
c.6604-1G>C (n.6604-1G>C)
c.4624-1G>C (n.4624-1G>C)
c.6145-1G>C (n.6145-1G>C)
c.5362-1G>C (n.5362-1G>C)
c.6601-1G>C (n.6601-1G>C)
c.6325-1G>C (n.6325-1G>C)
c.6142-1G>C (n.6142-1G>C)
c.5866-1G>C (n.5866-1G>C)
c.5863-1G>C (n.5863-1G>C)
c.5383-1G>C (n.5383-1G>C)
c.5281-1G>C (n.5281-1G>C)
c.5278-1G>C (n.5278-1G>C)
c.4543-1G>C (n.4543-1G>C)
c.4540-1G>C (n.4540-1G>C)
c.4903-1G>C (n.4903-1G>C)
c.4822-1G>C (n.4822-1G>C)
c.4819-1G>C (n.4819-1G>C)
c.4627-1G>C (n.4627-1G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.889139G=CA2011734327WNK1c.5365-1G= (n.5365-1G=)
c.6121-1G= (n.6121-1G=)
c.4144-1G= (n.4144-1G=)
c.2812-1G= (n.2812-1G=)
c.6604-1G= (n.6604-1G=)
c.4624-1G= (n.4624-1G=)
c.6145-1G= (n.6145-1G=)
c.5362-1G= (n.5362-1G=)
c.6601-1G= (n.6601-1G=)
c.6325-1G= (n.6325-1G=)
c.6142-1G= (n.6142-1G=)
c.5866-1G= (n.5866-1G=)
c.5863-1G= (n.5863-1G=)
c.5383-1G= (n.5383-1G=)
c.5281-1G= (n.5281-1G=)
c.5278-1G= (n.5278-1G=)
c.4543-1G= (n.4543-1G=)
c.4540-1G= (n.4540-1G=)
c.4903-1G= (n.4903-1G=)
c.4822-1G= (n.4822-1G=)
c.4819-1G= (n.4819-1G=)
c.4627-1G= (n.4627-1G=)
12g.889139G>TCA383333170WNK1c.5365-1G>T (n.5365-1G>T)
c.6121-1G>T (n.6121-1G>T)
c.4144-1G>T (n.4144-1G>T)
c.2812-1G>T (n.2812-1G>T)
c.6604-1G>T (n.6604-1G>T)
c.4624-1G>T (n.4624-1G>T)
c.6145-1G>T (n.6145-1G>T)
c.5362-1G>T (n.5362-1G>T)
c.6601-1G>T (n.6601-1G>T)
c.6325-1G>T (n.6325-1G>T)
c.6142-1G>T (n.6142-1G>T)
c.5866-1G>T (n.5866-1G>T)
c.5863-1G>T (n.5863-1G>T)
c.5383-1G>T (n.5383-1G>T)
c.5281-1G>T (n.5281-1G>T)
c.5278-1G>T (n.5278-1G>T)
c.4543-1G>T (n.4543-1G>T)
c.4540-1G>T (n.4540-1G>T)
c.4903-1G>T (n.4903-1G>T)
c.4822-1G>T (n.4822-1G>T)
c.4819-1G>T (n.4819-1G>T)
c.4627-1G>T (n.4627-1G>T)
12g.889140T>ACA383333171WNK1c.5365T>A (p.Ser1789Thr)
c.6121T>A (p.Ser2041Thr)
c.4144T>A (p.Ser1382Thr)
c.2812T>A (p.Ser938Thr)
c.6604T>A (p.Ser2202Thr)
c.4624T>A (p.Ser1542Thr)
c.6145T>A (p.Ser2049Thr)
c.5362T>A (p.Ser1788Thr)
c.6601T>A (p.Ser2201Thr)
c.6325T>A (p.Ser2109Thr)
c.6142T>A (p.Ser2048Thr)
c.5866T>A (p.Ser1956Thr)
c.5863T>A (p.Ser1955Thr)
c.5383T>A (p.Ser1795Thr)
c.5281T>A (p.Ser1761Thr)
c.5278T>A (p.Ser1760Thr)
c.4543T>A (p.Ser1515Thr)
c.4540T>A (p.Ser1514Thr)
c.4903T>A (p.Ser1635Thr)
c.4822T>A (p.Ser1608Thr)
c.4819T>A (p.Ser1607Thr)
c.4627T>A (p.Ser1543Thr)
12g.889140T>CCA383333172WNK1c.5365T>C (p.Ser1789Pro)
c.6121T>C (p.Ser2041Pro)
c.4144T>C (p.Ser1382Pro)
c.2812T>C (p.Ser938Pro)
c.6604T>C (p.Ser2202Pro)
c.4624T>C (p.Ser1542Pro)
c.6145T>C (p.Ser2049Pro)
c.5362T>C (p.Ser1788Pro)
c.6601T>C (p.Ser2201Pro)
c.6325T>C (p.Ser2109Pro)
c.6142T>C (p.Ser2048Pro)
c.5866T>C (p.Ser1956Pro)
c.5863T>C (p.Ser1955Pro)
c.5383T>C (p.Ser1795Pro)
c.5281T>C (p.Ser1761Pro)
c.5278T>C (p.Ser1760Pro)
c.4543T>C (p.Ser1515Pro)
c.4540T>C (p.Ser1514Pro)
c.4903T>C (p.Ser1635Pro)
c.4822T>C (p.Ser1608Pro)
c.4819T>C (p.Ser1607Pro)
c.4627T>C (p.Ser1543Pro)
12g.889140T>GCA383333173WNK1c.5365T>G (p.Ser1789Ala)
c.6121T>G (p.Ser2041Ala)
c.4144T>G (p.Ser1382Ala)
c.2812T>G (p.Ser938Ala)
c.6604T>G (p.Ser2202Ala)
c.4624T>G (p.Ser1542Ala)
c.6145T>G (p.Ser2049Ala)
c.5362T>G (p.Ser1788Ala)
c.6601T>G (p.Ser2201Ala)
c.6325T>G (p.Ser2109Ala)
c.6142T>G (p.Ser2048Ala)
c.5866T>G (p.Ser1956Ala)
c.5863T>G (p.Ser1955Ala)
c.5383T>G (p.Ser1795Ala)
c.5281T>G (p.Ser1761Ala)
c.5278T>G (p.Ser1760Ala)
c.4543T>G (p.Ser1515Ala)
c.4540T>G (p.Ser1514Ala)
c.4903T>G (p.Ser1635Ala)
c.4822T>G (p.Ser1608Ala)
c.4819T>G (p.Ser1607Ala)
c.4627T>G (p.Ser1543Ala)
12g.889141C>ACA383333174WNK1c.5366C>A (p.Ser1789Tyr)
c.6122C>A (p.Ser2041Tyr)
c.4145C>A (p.Ser1382Tyr)
c.2813C>A (p.Ser938Tyr)
c.6605C>A (p.Ser2202Tyr)
c.4625C>A (p.Ser1542Tyr)
c.6146C>A (p.Ser2049Tyr)
c.5363C>A (p.Ser1788Tyr)
c.6602C>A (p.Ser2201Tyr)
c.6326C>A (p.Ser2109Tyr)
c.6143C>A (p.Ser2048Tyr)
c.5867C>A (p.Ser1956Tyr)
c.5864C>A (p.Ser1955Tyr)
c.5384C>A (p.Ser1795Tyr)
c.5282C>A (p.Ser1761Tyr)
c.5279C>A (p.Ser1760Tyr)
c.4544C>A (p.Ser1515Tyr)
c.4541C>A (p.Ser1514Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4823C>A (p.Ser1608Tyr)
c.4820C>A (p.Ser1607Tyr)
c.4628C>A (p.Ser1543Tyr)
gnomAD v4
12g.889141C>GCA383333175WNK1c.5366C>G (p.Ser1789Cys)
c.6122C>G (p.Ser2041Cys)
c.4145C>G (p.Ser1382Cys)
c.2813C>G (p.Ser938Cys)
c.6605C>G (p.Ser2202Cys)
c.4625C>G (p.Ser1542Cys)
c.6146C>G (p.Ser2049Cys)
c.5363C>G (p.Ser1788Cys)
c.6602C>G (p.Ser2201Cys)
c.6326C>G (p.Ser2109Cys)
c.6143C>G (p.Ser2048Cys)
c.5867C>G (p.Ser1956Cys)
c.5864C>G (p.Ser1955Cys)
c.5384C>G (p.Ser1795Cys)
c.5282C>G (p.Ser1761Cys)
c.5279C>G (p.Ser1760Cys)
c.4544C>G (p.Ser1515Cys)
c.4541C>G (p.Ser1514Cys)
c.4904C>G (p.Ser1635Cys)
c.4823C>G (p.Ser1608Cys)
c.4820C>G (p.Ser1607Cys)
c.4628C>G (p.Ser1543Cys)
ClinVar gnomAD v4
12g.889141C>TCA383333176WNK1c.5366C>T (p.Ser1789Phe)
c.6122C>T (p.Ser2041Phe)
c.4145C>T (p.Ser1382Phe)
c.2813C>T (p.Ser938Phe)
c.6605C>T (p.Ser2202Phe)
c.4625C>T (p.Ser1542Phe)
c.6146C>T (p.Ser2049Phe)
c.5363C>T (p.Ser1788Phe)
c.6602C>T (p.Ser2201Phe)
c.6326C>T (p.Ser2109Phe)
c.6143C>T (p.Ser2048Phe)
c.5867C>T (p.Ser1956Phe)
c.5864C>T (p.Ser1955Phe)
c.5384C>T (p.Ser1795Phe)
c.5282C>T (p.Ser1761Phe)
c.5279C>T (p.Ser1760Phe)
c.4544C>T (p.Ser1515Phe)
c.4541C>T (p.Ser1514Phe)
c.4904C>T (p.Ser1635Phe)
c.4823C>T (p.Ser1608Phe)
c.4820C>T (p.Ser1607Phe)
c.4628C>T (p.Ser1543Phe)
12g.889142C>ACA477851746WNK1c.5367C>A (p.Ser1789=)
c.6123C>A (p.Ser2041=)
c.4146C>A (p.Ser1382=)
c.2814C>A (p.Ser938=)
c.6606C>A (p.Ser2202=)
c.4626C>A (p.Ser1542=)
c.6147C>A (p.Ser2049=)
c.5364C>A (p.Ser1788=)
c.6603C>A (p.Ser2201=)
c.6327C>A (p.Ser2109=)
c.6144C>A (p.Ser2048=)
c.5868C>A (p.Ser1956=)
c.5865C>A (p.Ser1955=)
c.5385C>A (p.Ser1795=)
c.5283C>A (p.Ser1761=)
c.5280C>A (p.Ser1760=)
c.4545C>A (p.Ser1515=)
c.4542C>A (p.Ser1514=)
c.4905C>A (p.Ser1635=)
c.4824C>A (p.Ser1608=)
c.4821C>A (p.Ser1607=)
c.4629C>A (p.Ser1543=)
12g.889142C>GCA477851747WNK1c.5367C>G (p.Ser1789=)
c.6123C>G (p.Ser2041=)
c.4146C>G (p.Ser1382=)
c.2814C>G (p.Ser938=)
c.6606C>G (p.Ser2202=)
c.4626C>G (p.Ser1542=)
c.6147C>G (p.Ser2049=)
c.5364C>G (p.Ser1788=)
c.6603C>G (p.Ser2201=)
c.6327C>G (p.Ser2109=)
c.6144C>G (p.Ser2048=)
c.5868C>G (p.Ser1956=)
c.5865C>G (p.Ser1955=)
c.5385C>G (p.Ser1795=)
c.5283C>G (p.Ser1761=)
c.5280C>G (p.Ser1760=)
c.4545C>G (p.Ser1515=)
c.4542C>G (p.Ser1514=)
c.4905C>G (p.Ser1635=)
c.4824C>G (p.Ser1608=)
c.4821C>G (p.Ser1607=)
c.4629C>G (p.Ser1543=)
gnomAD v4
12g.889142C>TCA477851748WNK1c.5367C>T (p.Ser1789=)
c.6123C>T (p.Ser2041=)
c.4146C>T (p.Ser1382=)
c.2814C>T (p.Ser938=)
c.6606C>T (p.Ser2202=)
c.4626C>T (p.Ser1542=)
c.6147C>T (p.Ser2049=)
c.5364C>T (p.Ser1788=)
c.6603C>T (p.Ser2201=)
c.6327C>T (p.Ser2109=)
c.6144C>T (p.Ser2048=)
c.5868C>T (p.Ser1956=)
c.5865C>T (p.Ser1955=)
c.5385C>T (p.Ser1795=)
c.5283C>T (p.Ser1761=)
c.5280C>T (p.Ser1760=)
c.4545C>T (p.Ser1515=)
c.4542C>T (p.Ser1514=)
c.4905C>T (p.Ser1635=)
c.4824C>T (p.Ser1608=)
c.4821C>T (p.Ser1607=)
c.4629C>T (p.Ser1543=)
gnomAD v4
12g.889143C>ACA383333177WNK1c.5368C>A (p.Gln1790Lys)
c.6124C>A (p.Gln2042Lys)
c.4147C>A (p.Gln1383Lys)
c.2815C>A (p.Gln939Lys)
c.6607C>A (p.Gln2203Lys)
c.4627C>A (p.Gln1543Lys)
c.6148C>A (p.Gln2050Lys)
c.5365C>A (p.Gln1789Lys)
c.6604C>A (p.Gln2202Lys)
c.6328C>A (p.Gln2110Lys)
c.6145C>A (p.Gln2049Lys)
c.5869C>A (p.Gln1957Lys)
c.5866C>A (p.Gln1956Lys)
c.5386C>A (p.Gln1796Lys)
c.5284C>A (p.Gln1762Lys)
c.5281C>A (p.Gln1761Lys)
c.4546C>A (p.Gln1516Lys)
c.4543C>A (p.Gln1515Lys)
c.4906C>A (p.Gln1636Lys)
c.4825C>A (p.Gln1609Lys)
c.4822C>A (p.Gln1608Lys)
c.4630C>A (p.Gln1544Lys)
12g.889143C>GCA383333178WNK1c.5368C>G (p.Gln1790Glu)
c.6124C>G (p.Gln2042Glu)
c.4147C>G (p.Gln1383Glu)
c.2815C>G (p.Gln939Glu)
c.6607C>G (p.Gln2203Glu)
c.4627C>G (p.Gln1543Glu)
c.6148C>G (p.Gln2050Glu)
c.5365C>G (p.Gln1789Glu)
c.6604C>G (p.Gln2202Glu)
c.6328C>G (p.Gln2110Glu)
c.6145C>G (p.Gln2049Glu)
c.5869C>G (p.Gln1957Glu)
c.5866C>G (p.Gln1956Glu)
c.5386C>G (p.Gln1796Glu)
c.5284C>G (p.Gln1762Glu)
c.5281C>G (p.Gln1761Glu)
c.4546C>G (p.Gln1516Glu)
c.4543C>G (p.Gln1515Glu)
c.4906C>G (p.Gln1636Glu)
c.4825C>G (p.Gln1609Glu)
c.4822C>G (p.Gln1608Glu)
c.4630C>G (p.Gln1544Glu)
12g.889143C>TCA383333179WNK1c.5368C>T (p.Gln1790Ter)
c.6124C>T (p.Gln2042Ter)
c.4147C>T (p.Gln1383Ter)
c.2815C>T (p.Gln939Ter)
c.6607C>T (p.Gln2203Ter)
c.4627C>T (p.Gln1543Ter)
c.6148C>T (p.Gln2050Ter)
c.5365C>T (p.Gln1789Ter)
c.6604C>T (p.Gln2202Ter)
c.6328C>T (p.Gln2110Ter)
c.6145C>T (p.Gln2049Ter)
c.5869C>T (p.Gln1957Ter)
c.5866C>T (p.Gln1956Ter)
c.5386C>T (p.Gln1796Ter)
c.5284C>T (p.Gln1762Ter)
c.5281C>T (p.Gln1761Ter)
c.4546C>T (p.Gln1516Ter)
c.4543C>T (p.Gln1515Ter)
c.4906C>T (p.Gln1636Ter)
c.4825C>T (p.Gln1609Ter)
c.4822C>T (p.Gln1608Ter)
c.4630C>T (p.Gln1544Ter)
12g.889144A=CA2011734328WNK1c.5369A= (p.Gln1790=)
c.6125A= (p.Gln2042=)
c.4148A= (p.Gln1383=)
c.2816A= (p.Gln939=)
c.6608A= (p.Gln2203=)
c.4628A= (p.Gln1543=)
c.6149A= (p.Gln2050=)
c.5366A= (p.Gln1789=)
c.6605A= (p.Gln2202=)
c.6329A= (p.Gln2110=)
c.6146A= (p.Gln2049=)
c.5870A= (p.Gln1957=)
c.5867A= (p.Gln1956=)
c.5387A= (p.Gln1796=)
c.5285A= (p.Gln1762=)
c.5282A= (p.Gln1761=)
c.4547A= (p.Gln1516=)
c.4544A= (p.Gln1515=)
c.4907A= (p.Gln1636=)
c.4826A= (p.Gln1609=)
c.4823A= (p.Gln1608=)
c.4631A= (p.Gln1544=)
12g.889144A>CCA383333181WNK1c.5369A>C (p.Gln1790Pro)
c.6125A>C (p.Gln2042Pro)
c.4148A>C (p.Gln1383Pro)
c.2816A>C (p.Gln939Pro)
c.6608A>C (p.Gln2203Pro)
c.4628A>C (p.Gln1543Pro)
c.6149A>C (p.Gln2050Pro)
c.5366A>C (p.Gln1789Pro)
c.6605A>C (p.Gln2202Pro)
c.6329A>C (p.Gln2110Pro)
c.6146A>C (p.Gln2049Pro)
c.5870A>C (p.Gln1957Pro)
c.5867A>C (p.Gln1956Pro)
c.5387A>C (p.Gln1796Pro)
c.5285A>C (p.Gln1762Pro)
c.5282A>C (p.Gln1761Pro)
c.4547A>C (p.Gln1516Pro)
c.4544A>C (p.Gln1515Pro)
c.4907A>C (p.Gln1636Pro)
c.4826A>C (p.Gln1609Pro)
c.4823A>C (p.Gln1608Pro)
c.4631A>C (p.Gln1544Pro)
12g.889144A>GCA6383155WNK1c.5369A>G (p.Gln1790Arg)
c.6125A>G (p.Gln2042Arg)
c.4148A>G (p.Gln1383Arg)
c.2816A>G (p.Gln939Arg)
c.6608A>G (p.Gln2203Arg)
c.4628A>G (p.Gln1543Arg)
c.6149A>G (p.Gln2050Arg)
c.5366A>G (p.Gln1789Arg)
c.6605A>G (p.Gln2202Arg)
c.6329A>G (p.Gln2110Arg)
c.6146A>G (p.Gln2049Arg)
c.5870A>G (p.Gln1957Arg)
c.5867A>G (p.Gln1956Arg)
c.5387A>G (p.Gln1796Arg)
c.5285A>G (p.Gln1762Arg)
c.5282A>G (p.Gln1761Arg)
c.4547A>G (p.Gln1516Arg)
c.4544A>G (p.Gln1515Arg)
c.4907A>G (p.Gln1636Arg)
c.4826A>G (p.Gln1609Arg)
c.4823A>G (p.Gln1608Arg)
c.4631A>G (p.Gln1544Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.889144A>TCA383333180WNK1c.5369A>T (p.Gln1790Leu)
c.6125A>T (p.Gln2042Leu)
c.4148A>T (p.Gln1383Leu)
c.2816A>T (p.Gln939Leu)
c.6608A>T (p.Gln2203Leu)
c.4628A>T (p.Gln1543Leu)
c.6149A>T (p.Gln2050Leu)
c.5366A>T (p.Gln1789Leu)
c.6605A>T (p.Gln2202Leu)
c.6329A>T (p.Gln2110Leu)
c.6146A>T (p.Gln2049Leu)
c.5870A>T (p.Gln1957Leu)
c.5867A>T (p.Gln1956Leu)
c.5387A>T (p.Gln1796Leu)
c.5285A>T (p.Gln1762Leu)
c.5282A>T (p.Gln1761Leu)
c.4547A>T (p.Gln1516Leu)
c.4544A>T (p.Gln1515Leu)
c.4907A>T (p.Gln1636Leu)
c.4826A>T (p.Gln1609Leu)
c.4823A>T (p.Gln1608Leu)
c.4631A>T (p.Gln1544Leu)
12g.889145G>ACA477851752WNK1c.5370G>A (p.Gln1790=)
c.6126G>A (p.Gln2042=)
c.4149G>A (p.Gln1383=)
c.2817G>A (p.Gln939=)
c.6609G>A (p.Gln2203=)
c.4629G>A (p.Gln1543=)
c.6150G>A (p.Gln2050=)
c.5367G>A (p.Gln1789=)
c.6606G>A (p.Gln2202=)
c.6330G>A (p.Gln2110=)
c.6147G>A (p.Gln2049=)
c.5871G>A (p.Gln1957=)
c.5868G>A (p.Gln1956=)
c.5388G>A (p.Gln1796=)
c.5286G>A (p.Gln1762=)
c.5283G>A (p.Gln1761=)
c.4548G>A (p.Gln1516=)
c.4545G>A (p.Gln1515=)
c.4908G>A (p.Gln1636=)
c.4827G>A (p.Gln1609=)
c.4824G>A (p.Gln1608=)
c.4632G>A (p.Gln1544=)
12g.889145G>CCA6383156WNK1c.5370G>C (p.Gln1790His)
c.6126G>C (p.Gln2042His)
c.4149G>C (p.Gln1383His)
c.2817G>C (p.Gln939His)
c.6609G>C (p.Gln2203His)
c.4629G>C (p.Gln1543His)
c.6150G>C (p.Gln2050His)
c.5367G>C (p.Gln1789His)
c.6606G>C (p.Gln2202His)
c.6330G>C (p.Gln2110His)
c.6147G>C (p.Gln2049His)
c.5871G>C (p.Gln1957His)
c.5868G>C (p.Gln1956His)
c.5388G>C (p.Gln1796His)
c.5286G>C (p.Gln1762His)
c.5283G>C (p.Gln1761His)
c.4548G>C (p.Gln1516His)
c.4545G>C (p.Gln1515His)
c.4908G>C (p.Gln1636His)
c.4827G>C (p.Gln1609His)
c.4824G>C (p.Gln1608His)
c.4632G>C (p.Gln1544His)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.889145G=CA2011734332WNK1c.5370G= (p.Gln1790=)
c.6126G= (p.Gln2042=)
c.4149G= (p.Gln1383=)
c.2817G= (p.Gln939=)
c.6609G= (p.Gln2203=)
c.4629G= (p.Gln1543=)
c.6150G= (p.Gln2050=)
c.5367G= (p.Gln1789=)
c.6606G= (p.Gln2202=)
c.6330G= (p.Gln2110=)
c.6147G= (p.Gln2049=)
c.5871G= (p.Gln1957=)
c.5868G= (p.Gln1956=)
c.5388G= (p.Gln1796=)
c.5286G= (p.Gln1762=)
c.5283G= (p.Gln1761=)
c.4548G= (p.Gln1516=)
c.4545G= (p.Gln1515=)
c.4908G= (p.Gln1636=)
c.4827G= (p.Gln1609=)
c.4824G= (p.Gln1608=)
c.4632G= (p.Gln1544=)
12g.889145G>TCA10638726WNK1c.5370G>T (p.Gln1790His)
c.6126G>T (p.Gln2042His)
c.4149G>T (p.Gln1383His)
c.2817G>T (p.Gln939His)
c.6609G>T (p.Gln2203His)
c.4629G>T (p.Gln1543His)
c.6150G>T (p.Gln2050His)
c.5367G>T (p.Gln1789His)
c.6606G>T (p.Gln2202His)
c.6330G>T (p.Gln2110His)
c.6147G>T (p.Gln2049His)
c.5871G>T (p.Gln1957His)
c.5868G>T (p.Gln1956His)
c.5388G>T (p.Gln1796His)
c.5286G>T (p.Gln1762His)
c.5283G>T (p.Gln1761His)
c.4548G>T (p.Gln1516His)
c.4545G>T (p.Gln1515His)
c.4908G>T (p.Gln1636His)
c.4827G>T (p.Gln1609His)
c.4824G>T (p.Gln1608His)
c.4632G>T (p.Gln1544His)
ClinVar dbSNP
12g.889146C>ACA383333182WNK1c.5371C>A (p.Gln1791Lys)
c.6127C>A (p.Gln2043Lys)
c.4150C>A (p.Gln1384Lys)
c.2818C>A (p.Gln940Lys)
c.6610C>A (p.Gln2204Lys)
c.4630C>A (p.Gln1544Lys)
c.6151C>A (p.Gln2051Lys)
c.5368C>A (p.Gln1790Lys)
c.6607C>A (p.Gln2203Lys)
c.6331C>A (p.Gln2111Lys)
c.6148C>A (p.Gln2050Lys)
c.5872C>A (p.Gln1958Lys)
c.5869C>A (p.Gln1957Lys)
c.5389C>A (p.Gln1797Lys)
c.5287C>A (p.Gln1763Lys)
c.5284C>A (p.Gln1762Lys)
c.4549C>A (p.Gln1517Lys)
c.4546C>A (p.Gln1516Lys)
c.4909C>A (p.Gln1637Lys)
c.4828C>A (p.Gln1610Lys)
c.4825C>A (p.Gln1609Lys)
c.4633C>A (p.Gln1545Lys)
dbSNP gnomAD v3 gnomAD v4
12g.889146C>GCA383333183WNK1c.5371C>G (p.Gln1791Glu)
c.6127C>G (p.Gln2043Glu)
c.4150C>G (p.Gln1384Glu)
c.2818C>G (p.Gln940Glu)
c.6610C>G (p.Gln2204Glu)
c.4630C>G (p.Gln1544Glu)
c.6151C>G (p.Gln2051Glu)
c.5368C>G (p.Gln1790Glu)
c.6607C>G (p.Gln2203Glu)
c.6331C>G (p.Gln2111Glu)
c.6148C>G (p.Gln2050Glu)
c.5872C>G (p.Gln1958Glu)
c.5869C>G (p.Gln1957Glu)
c.5389C>G (p.Gln1797Glu)
c.5287C>G (p.Gln1763Glu)
c.5284C>G (p.Gln1762Glu)
c.4549C>G (p.Gln1517Glu)
c.4546C>G (p.Gln1516Glu)
c.4909C>G (p.Gln1637Glu)
c.4828C>G (p.Gln1610Glu)
c.4825C>G (p.Gln1609Glu)
c.4633C>G (p.Gln1545Glu)
12g.889146C>TCA383333184WNK1c.5371C>T (p.Gln1791Ter)
c.6127C>T (p.Gln2043Ter)
c.4150C>T (p.Gln1384Ter)
c.2818C>T (p.Gln940Ter)
c.6610C>T (p.Gln2204Ter)
c.4630C>T (p.Gln1544Ter)
c.6151C>T (p.Gln2051Ter)
c.5368C>T (p.Gln1790Ter)
c.6607C>T (p.Gln2203Ter)
c.6331C>T (p.Gln2111Ter)
c.6148C>T (p.Gln2050Ter)
c.5872C>T (p.Gln1958Ter)
c.5869C>T (p.Gln1957Ter)
c.5389C>T (p.Gln1797Ter)
c.5287C>T (p.Gln1763Ter)
c.5284C>T (p.Gln1762Ter)
c.4549C>T (p.Gln1517Ter)
c.4546C>T (p.Gln1516Ter)
c.4909C>T (p.Gln1637Ter)
c.4828C>T (p.Gln1610Ter)
c.4825C>T (p.Gln1609Ter)
c.4633C>T (p.Gln1545Ter)
12g.889147A>CCA383333187WNK1c.5372A>C (p.Gln1791Pro)
c.6128A>C (p.Gln2043Pro)
c.4151A>C (p.Gln1384Pro)
c.2819A>C (p.Gln940Pro)
c.6611A>C (p.Gln2204Pro)
c.4631A>C (p.Gln1544Pro)
c.6152A>C (p.Gln2051Pro)
c.5369A>C (p.Gln1790Pro)
c.6608A>C (p.Gln2203Pro)
c.6332A>C (p.Gln2111Pro)
c.6149A>C (p.Gln2050Pro)
c.5873A>C (p.Gln1958Pro)
c.5870A>C (p.Gln1957Pro)
c.5390A>C (p.Gln1797Pro)
c.5288A>C (p.Gln1763Pro)
c.5285A>C (p.Gln1762Pro)
c.4550A>C (p.Gln1517Pro)
c.4547A>C (p.Gln1516Pro)
c.4910A>C (p.Gln1637Pro)
c.4829A>C (p.Gln1610Pro)
c.4826A>C (p.Gln1609Pro)
c.4634A>C (p.Gln1545Pro)
12g.889147A>GCA383333185WNK1c.5372A>G (p.Gln1791Arg)
c.6128A>G (p.Gln2043Arg)
c.4151A>G (p.Gln1384Arg)
c.2819A>G (p.Gln940Arg)
c.6611A>G (p.Gln2204Arg)
c.4631A>G (p.Gln1544Arg)
c.6152A>G (p.Gln2051Arg)
c.5369A>G (p.Gln1790Arg)
c.6608A>G (p.Gln2203Arg)
c.6332A>G (p.Gln2111Arg)
c.6149A>G (p.Gln2050Arg)
c.5873A>G (p.Gln1958Arg)
c.5870A>G (p.Gln1957Arg)
c.5390A>G (p.Gln1797Arg)
c.5288A>G (p.Gln1763Arg)
c.5285A>G (p.Gln1762Arg)
c.4550A>G (p.Gln1517Arg)
c.4547A>G (p.Gln1516Arg)
c.4910A>G (p.Gln1637Arg)
c.4829A>G (p.Gln1610Arg)
c.4826A>G (p.Gln1609Arg)
c.4634A>G (p.Gln1545Arg)
12g.889147A>TCA383333186WNK1c.5372A>T (p.Gln1791Leu)
c.6128A>T (p.Gln2043Leu)
c.4151A>T (p.Gln1384Leu)
c.2819A>T (p.Gln940Leu)
c.6611A>T (p.Gln2204Leu)
c.4631A>T (p.Gln1544Leu)
c.6152A>T (p.Gln2051Leu)
c.5369A>T (p.Gln1790Leu)
c.6608A>T (p.Gln2203Leu)
c.6332A>T (p.Gln2111Leu)
c.6149A>T (p.Gln2050Leu)
c.5873A>T (p.Gln1958Leu)
c.5870A>T (p.Gln1957Leu)
c.5390A>T (p.Gln1797Leu)
c.5288A>T (p.Gln1763Leu)
c.5285A>T (p.Gln1762Leu)
c.4550A>T (p.Gln1517Leu)
c.4547A>T (p.Gln1516Leu)
c.4910A>T (p.Gln1637Leu)
c.4829A>T (p.Gln1610Leu)
c.4826A>T (p.Gln1609Leu)
c.4634A>T (p.Gln1545Leu)
12g.889148A=CA2011734334WNK1c.5373A= (p.Gln1791=)
c.6129A= (p.Gln2043=)
c.4152A= (p.Gln1384=)
c.2820A= (p.Gln940=)
c.6612A= (p.Gln2204=)
c.4632A= (p.Gln1544=)
c.6153A= (p.Gln2051=)
c.5370A= (p.Gln1790=)
c.6609A= (p.Gln2203=)
c.6333A= (p.Gln2111=)
c.6150A= (p.Gln2050=)
c.5874A= (p.Gln1958=)
c.5871A= (p.Gln1957=)
c.5391A= (p.Gln1797=)
c.5289A= (p.Gln1763=)
c.5286A= (p.Gln1762=)
c.4551A= (p.Gln1517=)
c.4548A= (p.Gln1516=)
c.4911A= (p.Gln1637=)
c.4830A= (p.Gln1610=)
c.4827A= (p.Gln1609=)
c.4635A= (p.Gln1545=)
12g.889148A>CCA6383157WNK1c.5373A>C (p.Gln1791His)
c.6129A>C (p.Gln2043His)
c.4152A>C (p.Gln1384His)
c.2820A>C (p.Gln940His)
c.6612A>C (p.Gln2204His)
c.4632A>C (p.Gln1544His)
c.6153A>C (p.Gln2051His)
c.5370A>C (p.Gln1790His)
c.6609A>C (p.Gln2203His)
c.6333A>C (p.Gln2111His)
c.6150A>C (p.Gln2050His)
c.5874A>C (p.Gln1958His)
c.5871A>C (p.Gln1957His)
c.5391A>C (p.Gln1797His)
c.5289A>C (p.Gln1763His)
c.5286A>C (p.Gln1762His)
c.4551A>C (p.Gln1517His)
c.4548A>C (p.Gln1516His)
c.4911A>C (p.Gln1637His)
c.4830A>C (p.Gln1610His)
c.4827A>C (p.Gln1609His)
c.4635A>C (p.Gln1545His)
dbSNP ExAC gnomAD v2
12g.889148A>GCA477851754WNK1c.5373A>G (p.Gln1791=)
c.6129A>G (p.Gln2043=)
c.4152A>G (p.Gln1384=)
c.2820A>G (p.Gln940=)
c.6612A>G (p.Gln2204=)
c.4632A>G (p.Gln1544=)
c.6153A>G (p.Gln2051=)
c.5370A>G (p.Gln1790=)
c.6609A>G (p.Gln2203=)
c.6333A>G (p.Gln2111=)
c.6150A>G (p.Gln2050=)
c.5874A>G (p.Gln1958=)
c.5871A>G (p.Gln1957=)
c.5391A>G (p.Gln1797=)
c.5289A>G (p.Gln1763=)
c.5286A>G (p.Gln1762=)
c.4551A>G (p.Gln1517=)
c.4548A>G (p.Gln1516=)
c.4911A>G (p.Gln1637=)
c.4830A>G (p.Gln1610=)
c.4827A>G (p.Gln1609=)
c.4635A>G (p.Gln1545=)
gnomAD v4
12g.889148A>TCA383333188WNK1c.5373A>T (p.Gln1791His)
c.6129A>T (p.Gln2043His)
c.4152A>T (p.Gln1384His)
c.2820A>T (p.Gln940His)
c.6612A>T (p.Gln2204His)
c.4632A>T (p.Gln1544His)
c.6153A>T (p.Gln2051His)
c.5370A>T (p.Gln1790His)
c.6609A>T (p.Gln2203His)
c.6333A>T (p.Gln2111His)
c.6150A>T (p.Gln2050His)
c.5874A>T (p.Gln1958His)
c.5871A>T (p.Gln1957His)
c.5391A>T (p.Gln1797His)
c.5289A>T (p.Gln1763His)
c.5286A>T (p.Gln1762His)
c.4551A>T (p.Gln1517His)
c.4548A>T (p.Gln1516His)
c.4911A>T (p.Gln1637His)
c.4830A>T (p.Gln1610His)
c.4827A>T (p.Gln1609His)
c.4635A>T (p.Gln1545His)
12g.889149C>ACA383333189WNK1c.5374C>A (p.Pro1792Thr)
c.6130C>A (p.Pro2044Thr)
c.4153C>A (p.Pro1385Thr)
c.2821C>A (p.Pro941Thr)
c.6613C>A (p.Pro2205Thr)
c.4633C>A (p.Pro1545Thr)
c.6154C>A (p.Pro2052Thr)
c.5371C>A (p.Pro1791Thr)
c.6610C>A (p.Pro2204Thr)
c.6334C>A (p.Pro2112Thr)
c.6151C>A (p.Pro2051Thr)
c.5875C>A (p.Pro1959Thr)
c.5872C>A (p.Pro1958Thr)
c.5392C>A (p.Pro1798Thr)
c.5290C>A (p.Pro1764Thr)
c.5287C>A (p.Pro1763Thr)
c.4552C>A (p.Pro1518Thr)
c.4549C>A (p.Pro1517Thr)
c.4912C>A (p.Pro1638Thr)
c.4831C>A (p.Pro1611Thr)
c.4828C>A (p.Pro1610Thr)
c.4636C>A (p.Pro1546Thr)
gnomAD v4
12g.889149C>GCA383333190WNK1c.5374C>G (p.Pro1792Ala)
c.6130C>G (p.Pro2044Ala)
c.4153C>G (p.Pro1385Ala)
c.2821C>G (p.Pro941Ala)
c.6613C>G (p.Pro2205Ala)
c.4633C>G (p.Pro1545Ala)
c.6154C>G (p.Pro2052Ala)
c.5371C>G (p.Pro1791Ala)
c.6610C>G (p.Pro2204Ala)
c.6334C>G (p.Pro2112Ala)
c.6151C>G (p.Pro2051Ala)
c.5875C>G (p.Pro1959Ala)
c.5872C>G (p.Pro1958Ala)
c.5392C>G (p.Pro1798Ala)
c.5290C>G (p.Pro1764Ala)
c.5287C>G (p.Pro1763Ala)
c.4552C>G (p.Pro1518Ala)
c.4549C>G (p.Pro1517Ala)
c.4912C>G (p.Pro1638Ala)
c.4831C>G (p.Pro1611Ala)
c.4828C>G (p.Pro1610Ala)
c.4636C>G (p.Pro1546Ala)
12g.889149C>TCA383333191WNK1c.5374C>T (p.Pro1792Ser)
c.6130C>T (p.Pro2044Ser)
c.4153C>T (p.Pro1385Ser)
c.2821C>T (p.Pro941Ser)
c.6613C>T (p.Pro2205Ser)
c.4633C>T (p.Pro1545Ser)
c.6154C>T (p.Pro2052Ser)
c.5371C>T (p.Pro1791Ser)
c.6610C>T (p.Pro2204Ser)
c.6334C>T (p.Pro2112Ser)
c.6151C>T (p.Pro2051Ser)
c.5875C>T (p.Pro1959Ser)
c.5872C>T (p.Pro1958Ser)
c.5392C>T (p.Pro1798Ser)
c.5290C>T (p.Pro1764Ser)
c.5287C>T (p.Pro1763Ser)
c.4552C>T (p.Pro1518Ser)
c.4549C>T (p.Pro1517Ser)
c.4912C>T (p.Pro1638Ser)
c.4831C>T (p.Pro1611Ser)
c.4828C>T (p.Pro1610Ser)
c.4636C>T (p.Pro1546Ser)
12g.889150C>ACA383333194WNK1c.5375C>A (p.Pro1792His)
c.6131C>A (p.Pro2044His)
c.4154C>A (p.Pro1385His)
c.2822C>A (p.Pro941His)
c.6614C>A (p.Pro2205His)
c.4634C>A (p.Pro1545His)
c.6155C>A (p.Pro2052His)
c.5372C>A (p.Pro1791His)
c.6611C>A (p.Pro2204His)
c.6335C>A (p.Pro2112His)
c.6152C>A (p.Pro2051His)
c.5876C>A (p.Pro1959His)
c.5873C>A (p.Pro1958His)
c.5393C>A (p.Pro1798His)
c.5291C>A (p.Pro1764His)
c.5288C>A (p.Pro1763His)
c.4553C>A (p.Pro1518His)
c.4550C>A (p.Pro1517His)
c.4913C>A (p.Pro1638His)
c.4832C>A (p.Pro1611His)
c.4829C>A (p.Pro1610His)
c.4637C>A (p.Pro1546His)
12g.889150C=CA2011734336WNK1c.5375C= (p.Pro1792=)
c.6131C= (p.Pro2044=)
c.4154C= (p.Pro1385=)
c.2822C= (p.Pro941=)
c.6614C= (p.Pro2205=)
c.4634C= (p.Pro1545=)
c.6155C= (p.Pro2052=)
c.5372C= (p.Pro1791=)
c.6611C= (p.Pro2204=)
c.6335C= (p.Pro2112=)
c.6152C= (p.Pro2051=)
c.5876C= (p.Pro1959=)
c.5873C= (p.Pro1958=)
c.5393C= (p.Pro1798=)
c.5291C= (p.Pro1764=)
c.5288C= (p.Pro1763=)
c.4553C= (p.Pro1518=)
c.4550C= (p.Pro1517=)
c.4913C= (p.Pro1638=)
c.4832C= (p.Pro1611=)
c.4829C= (p.Pro1610=)
c.4637C= (p.Pro1546=)
12g.889150C>GCA383333193WNK1c.5375C>G (p.Pro1792Arg)
c.6131C>G (p.Pro2044Arg)
c.4154C>G (p.Pro1385Arg)
c.2822C>G (p.Pro941Arg)
c.6614C>G (p.Pro2205Arg)
c.4634C>G (p.Pro1545Arg)
c.6155C>G (p.Pro2052Arg)
c.5372C>G (p.Pro1791Arg)
c.6611C>G (p.Pro2204Arg)
c.6335C>G (p.Pro2112Arg)
c.6152C>G (p.Pro2051Arg)
c.5876C>G (p.Pro1959Arg)
c.5873C>G (p.Pro1958Arg)
c.5393C>G (p.Pro1798Arg)
c.5291C>G (p.Pro1764Arg)
c.5288C>G (p.Pro1763Arg)
c.4553C>G (p.Pro1518Arg)
c.4550C>G (p.Pro1517Arg)
c.4913C>G (p.Pro1638Arg)
c.4832C>G (p.Pro1611Arg)
c.4829C>G (p.Pro1610Arg)
c.4637C>G (p.Pro1546Arg)
12g.889150C>TCA383333192WNK1c.5375C>T (p.Pro1792Leu)
c.6131C>T (p.Pro2044Leu)
c.4154C>T (p.Pro1385Leu)
c.2822C>T (p.Pro941Leu)
c.6614C>T (p.Pro2205Leu)
c.4634C>T (p.Pro1545Leu)
c.6155C>T (p.Pro2052Leu)
c.5372C>T (p.Pro1791Leu)
c.6611C>T (p.Pro2204Leu)
c.6335C>T (p.Pro2112Leu)
c.6152C>T (p.Pro2051Leu)
c.5876C>T (p.Pro1959Leu)
c.5873C>T (p.Pro1958Leu)
c.5393C>T (p.Pro1798Leu)
c.5291C>T (p.Pro1764Leu)
c.5288C>T (p.Pro1763Leu)
c.4553C>T (p.Pro1518Leu)
c.4550C>T (p.Pro1517Leu)
c.4913C>T (p.Pro1638Leu)
c.4832C>T (p.Pro1611Leu)
c.4829C>T (p.Pro1610Leu)
c.4637C>T (p.Pro1546Leu)
dbSNP
12g.889151T>ACA477851756WNK1c.5376T>A (p.Pro1792=)
c.6132T>A (p.Pro2044=)
c.4155T>A (p.Pro1385=)
c.2823T>A (p.Pro941=)
c.6615T>A (p.Pro2205=)
c.4635T>A (p.Pro1545=)
c.6156T>A (p.Pro2052=)
c.5373T>A (p.Pro1791=)
c.6612T>A (p.Pro2204=)
c.6336T>A (p.Pro2112=)
c.6153T>A (p.Pro2051=)
c.5877T>A (p.Pro1959=)
c.5874T>A (p.Pro1958=)
c.5394T>A (p.Pro1798=)
c.5292T>A (p.Pro1764=)
c.5289T>A (p.Pro1763=)
c.4554T>A (p.Pro1518=)
c.4551T>A (p.Pro1517=)
c.4914T>A (p.Pro1638=)
c.4833T>A (p.Pro1611=)
c.4830T>A (p.Pro1610=)
c.4638T>A (p.Pro1546=)
12g.889151T>CCA477851758WNK1c.5376T>C (p.Pro1792=)
c.6132T>C (p.Pro2044=)
c.4155T>C (p.Pro1385=)
c.2823T>C (p.Pro941=)
c.6615T>C (p.Pro2205=)
c.4635T>C (p.Pro1545=)
c.6156T>C (p.Pro2052=)
c.5373T>C (p.Pro1791=)
c.6612T>C (p.Pro2204=)
c.6336T>C (p.Pro2112=)
c.6153T>C (p.Pro2051=)
c.5877T>C (p.Pro1959=)
c.5874T>C (p.Pro1958=)
c.5394T>C (p.Pro1798=)
c.5292T>C (p.Pro1764=)
c.5289T>C (p.Pro1763=)
c.4554T>C (p.Pro1518=)
c.4551T>C (p.Pro1517=)
c.4914T>C (p.Pro1638=)
c.4833T>C (p.Pro1611=)
c.4830T>C (p.Pro1610=)
c.4638T>C (p.Pro1546=)
12g.889151T>GCA477851759WNK1c.5376T>G (p.Pro1792=)
c.6132T>G (p.Pro2044=)
c.4155T>G (p.Pro1385=)
c.2823T>G (p.Pro941=)
c.6615T>G (p.Pro2205=)
c.4635T>G (p.Pro1545=)
c.6156T>G (p.Pro2052=)
c.5373T>G (p.Pro1791=)
c.6612T>G (p.Pro2204=)
c.6336T>G (p.Pro2112=)
c.6153T>G (p.Pro2051=)
c.5877T>G (p.Pro1959=)
c.5874T>G (p.Pro1958=)
c.5394T>G (p.Pro1798=)
c.5292T>G (p.Pro1764=)
c.5289T>G (p.Pro1763=)
c.4554T>G (p.Pro1518=)
c.4551T>G (p.Pro1517=)
c.4914T>G (p.Pro1638=)
c.4833T>G (p.Pro1611=)
c.4830T>G (p.Pro1610=)
c.4638T>G (p.Pro1546=)
12g.889152C>ACA383333195WNK1c.5377C>A (p.Leu1793Ile)
c.6133C>A (p.Leu2045Ile)
c.4156C>A (p.Leu1386Ile)
c.2824C>A (p.Leu942Ile)
c.6616C>A (p.Leu2206Ile)
c.4636C>A (p.Leu1546Ile)
c.6157C>A (p.Leu2053Ile)
c.5374C>A (p.Leu1792Ile)
c.6613C>A (p.Leu2205Ile)
c.6337C>A (p.Leu2113Ile)
c.6154C>A (p.Leu2052Ile)
c.5878C>A (p.Leu1960Ile)
c.5875C>A (p.Leu1959Ile)
c.5395C>A (p.Leu1799Ile)
c.5293C>A (p.Leu1765Ile)
c.5290C>A (p.Leu1764Ile)
c.4555C>A (p.Leu1519Ile)
c.4552C>A (p.Leu1518Ile)
c.4915C>A (p.Leu1639Ile)
c.4834C>A (p.Leu1612Ile)
c.4831C>A (p.Leu1611Ile)
c.4639C>A (p.Leu1547Ile)
12g.889152C>GCA383333196WNK1c.5377C>G (p.Leu1793Val)
c.6133C>G (p.Leu2045Val)
c.4156C>G (p.Leu1386Val)
c.2824C>G (p.Leu942Val)
c.6616C>G (p.Leu2206Val)
c.4636C>G (p.Leu1546Val)
c.6157C>G (p.Leu2053Val)
c.5374C>G (p.Leu1792Val)
c.6613C>G (p.Leu2205Val)
c.6337C>G (p.Leu2113Val)
c.6154C>G (p.Leu2052Val)
c.5878C>G (p.Leu1960Val)
c.5875C>G (p.Leu1959Val)
c.5395C>G (p.Leu1799Val)
c.5293C>G (p.Leu1765Val)
c.5290C>G (p.Leu1764Val)
c.4555C>G (p.Leu1519Val)
c.4552C>G (p.Leu1518Val)
c.4915C>G (p.Leu1639Val)
c.4834C>G (p.Leu1612Val)
c.4831C>G (p.Leu1611Val)
c.4639C>G (p.Leu1547Val)
12g.889152C>TCA477851760WNK1c.5377C>T (p.Leu1793=)
c.6133C>T (p.Leu2045=)
c.4156C>T (p.Leu1386=)
c.2824C>T (p.Leu942=)
c.6616C>T (p.Leu2206=)
c.4636C>T (p.Leu1546=)
c.6157C>T (p.Leu2053=)
c.5374C>T (p.Leu1792=)
c.6613C>T (p.Leu2205=)
c.6337C>T (p.Leu2113=)
c.6154C>T (p.Leu2052=)
c.5878C>T (p.Leu1960=)
c.5875C>T (p.Leu1959=)
c.5395C>T (p.Leu1799=)
c.5293C>T (p.Leu1765=)
c.5290C>T (p.Leu1764=)
c.4555C>T (p.Leu1519=)
c.4552C>T (p.Leu1518=)
c.4915C>T (p.Leu1639=)
c.4834C>T (p.Leu1612=)
c.4831C>T (p.Leu1611=)
c.4639C>T (p.Leu1547=)
12g.889153T>ACA383333197WNK1c.5378T>A (p.Leu1793Gln)
c.6134T>A (p.Leu2045Gln)
c.4157T>A (p.Leu1386Gln)
c.2825T>A (p.Leu942Gln)
c.6617T>A (p.Leu2206Gln)
c.4637T>A (p.Leu1546Gln)
c.6158T>A (p.Leu2053Gln)
c.5375T>A (p.Leu1792Gln)
c.6614T>A (p.Leu2205Gln)
c.6338T>A (p.Leu2113Gln)
c.6155T>A (p.Leu2052Gln)
c.5879T>A (p.Leu1960Gln)
c.5876T>A (p.Leu1959Gln)
c.5396T>A (p.Leu1799Gln)
c.5294T>A (p.Leu1765Gln)
c.5291T>A (p.Leu1764Gln)
c.4556T>A (p.Leu1519Gln)
c.4553T>A (p.Leu1518Gln)
c.4916T>A (p.Leu1639Gln)
c.4835T>A (p.Leu1612Gln)
c.4832T>A (p.Leu1611Gln)
c.4640T>A (p.Leu1547Gln)
12g.889153T>CCA383333199WNK1c.5378T>C (p.Leu1793Pro)
c.6134T>C (p.Leu2045Pro)
c.4157T>C (p.Leu1386Pro)
c.2825T>C (p.Leu942Pro)
c.6617T>C (p.Leu2206Pro)
c.4637T>C (p.Leu1546Pro)
c.6158T>C (p.Leu2053Pro)
c.5375T>C (p.Leu1792Pro)
c.6614T>C (p.Leu2205Pro)
c.6338T>C (p.Leu2113Pro)
c.6155T>C (p.Leu2052Pro)
c.5879T>C (p.Leu1960Pro)
c.5876T>C (p.Leu1959Pro)
c.5396T>C (p.Leu1799Pro)
c.5294T>C (p.Leu1765Pro)
c.5291T>C (p.Leu1764Pro)
c.4556T>C (p.Leu1519Pro)
c.4553T>C (p.Leu1518Pro)
c.4916T>C (p.Leu1639Pro)
c.4835T>C (p.Leu1612Pro)
c.4832T>C (p.Leu1611Pro)
c.4640T>C (p.Leu1547Pro)
gnomAD v4
12g.889153T>GCA383333198WNK1c.5378T>G (p.Leu1793Arg)
c.6134T>G (p.Leu2045Arg)
c.4157T>G (p.Leu1386Arg)
c.2825T>G (p.Leu942Arg)
c.6617T>G (p.Leu2206Arg)
c.4637T>G (p.Leu1546Arg)
c.6158T>G (p.Leu2053Arg)
c.5375T>G (p.Leu1792Arg)
c.6614T>G (p.Leu2205Arg)
c.6338T>G (p.Leu2113Arg)
c.6155T>G (p.Leu2052Arg)
c.5879T>G (p.Leu1960Arg)
c.5876T>G (p.Leu1959Arg)
c.5396T>G (p.Leu1799Arg)
c.5294T>G (p.Leu1765Arg)
c.5291T>G (p.Leu1764Arg)
c.4556T>G (p.Leu1519Arg)
c.4553T>G (p.Leu1518Arg)
c.4916T>G (p.Leu1639Arg)
c.4835T>G (p.Leu1612Arg)
c.4832T>G (p.Leu1611Arg)
c.4640T>G (p.Leu1547Arg)
12g.889154A=CA2011734338WNK1c.5379A= (p.Leu1793=)
c.6135A= (p.Leu2045=)
c.4158A= (p.Leu1386=)
c.2826A= (p.Leu942=)
c.6618A= (p.Leu2206=)
c.4638A= (p.Leu1546=)
c.6159A= (p.Leu2053=)
c.5376A= (p.Leu1792=)
c.6615A= (p.Leu2205=)
c.6339A= (p.Leu2113=)
c.6156A= (p.Leu2052=)
c.5880A= (p.Leu1960=)
c.5877A= (p.Leu1959=)
c.5397A= (p.Leu1799=)
c.5295A= (p.Leu1765=)
c.5292A= (p.Leu1764=)
c.4557A= (p.Leu1519=)
c.4554A= (p.Leu1518=)
c.4917A= (p.Leu1639=)
c.4836A= (p.Leu1612=)
c.4833A= (p.Leu1611=)
c.4641A= (p.Leu1547=)
12g.889154A>CCA477851761WNK1c.5379A>C (p.Leu1793=)
c.6135A>C (p.Leu2045=)
c.4158A>C (p.Leu1386=)
c.2826A>C (p.Leu942=)
c.6618A>C (p.Leu2206=)
c.4638A>C (p.Leu1546=)
c.6159A>C (p.Leu2053=)
c.5376A>C (p.Leu1792=)
c.6615A>C (p.Leu2205=)
c.6339A>C (p.Leu2113=)
c.6156A>C (p.Leu2052=)
c.5880A>C (p.Leu1960=)
c.5877A>C (p.Leu1959=)
c.5397A>C (p.Leu1799=)
c.5295A>C (p.Leu1765=)
c.5292A>C (p.Leu1764=)
c.4557A>C (p.Leu1519=)
c.4554A>C (p.Leu1518=)
c.4917A>C (p.Leu1639=)
c.4836A>C (p.Leu1612=)
c.4833A>C (p.Leu1611=)
c.4641A>C (p.Leu1547=)
12g.889154A>GCA477851762WNK1c.5379A>G (p.Leu1793=)
c.6135A>G (p.Leu2045=)
c.4158A>G (p.Leu1386=)
c.2826A>G (p.Leu942=)
c.6618A>G (p.Leu2206=)
c.4638A>G (p.Leu1546=)
c.6159A>G (p.Leu2053=)
c.5376A>G (p.Leu1792=)
c.6615A>G (p.Leu2205=)
c.6339A>G (p.Leu2113=)
c.6156A>G (p.Leu2052=)
c.5880A>G (p.Leu1960=)
c.5877A>G (p.Leu1959=)
c.5397A>G (p.Leu1799=)
c.5295A>G (p.Leu1765=)
c.5292A>G (p.Leu1764=)
c.4557A>G (p.Leu1519=)
c.4554A>G (p.Leu1518=)
c.4917A>G (p.Leu1639=)
c.4836A>G (p.Leu1612=)
c.4833A>G (p.Leu1611=)
c.4641A>G (p.Leu1547=)
dbSNP gnomAD v2 gnomAD v4
12g.889154A>TCA477851763WNK1c.5379A>T (p.Leu1793=)
c.6135A>T (p.Leu2045=)
c.4158A>T (p.Leu1386=)
c.2826A>T (p.Leu942=)
c.6618A>T (p.Leu2206=)
c.4638A>T (p.Leu1546=)
c.6159A>T (p.Leu2053=)
c.5376A>T (p.Leu1792=)
c.6615A>T (p.Leu2205=)
c.6339A>T (p.Leu2113=)
c.6156A>T (p.Leu2052=)
c.5880A>T (p.Leu1960=)
c.5877A>T (p.Leu1959=)
c.5397A>T (p.Leu1799=)
c.5295A>T (p.Leu1765=)
c.5292A>T (p.Leu1764=)
c.4557A>T (p.Leu1519=)
c.4554A>T (p.Leu1518=)
c.4917A>T (p.Leu1639=)
c.4836A>T (p.Leu1612=)
c.4833A>T (p.Leu1611=)
c.4641A>T (p.Leu1547=)
12g.889155G>ACA383333200WNK1c.5380G>A (p.Glu1794Lys)
c.6136G>A (p.Glu2046Lys)
c.4159G>A (p.Glu1387Lys)
c.2827G>A (p.Glu943Lys)
c.6619G>A (p.Glu2207Lys)
c.4639G>A (p.Glu1547Lys)
c.6160G>A (p.Glu2054Lys)
c.5377G>A (p.Glu1793Lys)
c.6616G>A (p.Glu2206Lys)
c.6340G>A (p.Glu2114Lys)
c.6157G>A (p.Glu2053Lys)
c.5881G>A (p.Glu1961Lys)
c.5878G>A (p.Glu1960Lys)
c.5398G>A (p.Glu1800Lys)
c.5296G>A (p.Glu1766Lys)
c.5293G>A (p.Glu1765Lys)
c.4558G>A (p.Glu1520Lys)
c.4555G>A (p.Glu1519Lys)
c.4918G>A (p.Glu1640Lys)
c.4837G>A (p.Glu1613Lys)
c.4834G>A (p.Glu1612Lys)
c.4642G>A (p.Glu1548Lys)
12g.889155G>CCA383333201WNK1c.5380G>C (p.Glu1794Gln)
c.6136G>C (p.Glu2046Gln)
c.4159G>C (p.Glu1387Gln)
c.2827G>C (p.Glu943Gln)
c.6619G>C (p.Glu2207Gln)
c.4639G>C (p.Glu1547Gln)
c.6160G>C (p.Glu2054Gln)
c.5377G>C (p.Glu1793Gln)
c.6616G>C (p.Glu2206Gln)
c.6340G>C (p.Glu2114Gln)
c.6157G>C (p.Glu2053Gln)
c.5881G>C (p.Glu1961Gln)
c.5878G>C (p.Glu1960Gln)
c.5398G>C (p.Glu1800Gln)
c.5296G>C (p.Glu1766Gln)
c.5293G>C (p.Glu1765Gln)
c.4558G>C (p.Glu1520Gln)
c.4555G>C (p.Glu1519Gln)
c.4918G>C (p.Glu1640Gln)
c.4837G>C (p.Glu1613Gln)
c.4834G>C (p.Glu1612Gln)
c.4642G>C (p.Glu1548Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.889155G=CA2011734340WNK1c.5380G= (p.Glu1794=)
c.6136G= (p.Glu2046=)
c.4159G= (p.Glu1387=)
c.2827G= (p.Glu943=)
c.6619G= (p.Glu2207=)
c.4639G= (p.Glu1547=)
c.6160G= (p.Glu2054=)
c.5377G= (p.Glu1793=)
c.6616G= (p.Glu2206=)
c.6340G= (p.Glu2114=)
c.6157G= (p.Glu2053=)
c.5881G= (p.Glu1961=)
c.5878G= (p.Glu1960=)
c.5398G= (p.Glu1800=)
c.5296G= (p.Glu1766=)
c.5293G= (p.Glu1765=)
c.4558G= (p.Glu1520=)
c.4555G= (p.Glu1519=)
c.4918G= (p.Glu1640=)
c.4837G= (p.Glu1613=)
c.4834G= (p.Glu1612=)
c.4642G= (p.Glu1548=)
12g.889155G>TCA383333202WNK1c.5380G>T (p.Glu1794Ter)
c.6136G>T (p.Glu2046Ter)
c.4159G>T (p.Glu1387Ter)
c.2827G>T (p.Glu943Ter)
c.6619G>T (p.Glu2207Ter)
c.4639G>T (p.Glu1547Ter)
c.6160G>T (p.Glu2054Ter)
c.5377G>T (p.Glu1793Ter)
c.6616G>T (p.Glu2206Ter)
c.6340G>T (p.Glu2114Ter)
c.6157G>T (p.Glu2053Ter)
c.5881G>T (p.Glu1961Ter)
c.5878G>T (p.Glu1960Ter)
c.5398G>T (p.Glu1800Ter)
c.5296G>T (p.Glu1766Ter)
c.5293G>T (p.Glu1765Ter)
c.4558G>T (p.Glu1520Ter)
c.4555G>T (p.Glu1519Ter)
c.4918G>T (p.Glu1640Ter)
c.4837G>T (p.Glu1613Ter)
c.4834G>T (p.Glu1612Ter)
c.4642G>T (p.Glu1548Ter)
12g.889156A=CA2011734342WNK1c.5381A= (p.Glu1794=)
c.6137A= (p.Glu2046=)
c.4160A= (p.Glu1387=)
c.2828A= (p.Glu943=)
c.6620A= (p.Glu2207=)
c.4640A= (p.Glu1547=)
c.6161A= (p.Glu2054=)
c.5378A= (p.Glu1793=)
c.6617A= (p.Glu2206=)
c.6341A= (p.Glu2114=)
c.6158A= (p.Glu2053=)
c.5882A= (p.Glu1961=)
c.5879A= (p.Glu1960=)
c.5399A= (p.Glu1800=)
c.5297A= (p.Glu1766=)
c.5294A= (p.Glu1765=)
c.4559A= (p.Glu1520=)
c.4556A= (p.Glu1519=)
c.4919A= (p.Glu1640=)
c.4838A= (p.Glu1613=)
c.4835A= (p.Glu1612=)
c.4643A= (p.Glu1548=)
12g.889156A>CCA383333203WNK1c.5381A>C (p.Glu1794Ala)
c.6137A>C (p.Glu2046Ala)
c.4160A>C (p.Glu1387Ala)
c.2828A>C (p.Glu943Ala)
c.6620A>C (p.Glu2207Ala)
c.4640A>C (p.Glu1547Ala)
c.6161A>C (p.Glu2054Ala)
c.5378A>C (p.Glu1793Ala)
c.6617A>C (p.Glu2206Ala)
c.6341A>C (p.Glu2114Ala)
c.6158A>C (p.Glu2053Ala)
c.5882A>C (p.Glu1961Ala)
c.5879A>C (p.Glu1960Ala)
c.5399A>C (p.Glu1800Ala)
c.5297A>C (p.Glu1766Ala)
c.5294A>C (p.Glu1765Ala)
c.4559A>C (p.Glu1520Ala)
c.4556A>C (p.Glu1519Ala)
c.4919A>C (p.Glu1640Ala)
c.4838A>C (p.Glu1613Ala)
c.4835A>C (p.Glu1612Ala)
c.4643A>C (p.Glu1548Ala)
12g.889156A>GCA231482334WNK1c.5381A>G (p.Glu1794Gly)
c.6137A>G (p.Glu2046Gly)
c.4160A>G (p.Glu1387Gly)
c.2828A>G (p.Glu943Gly)
c.6620A>G (p.Glu2207Gly)
c.4640A>G (p.Glu1547Gly)
c.6161A>G (p.Glu2054Gly)
c.5378A>G (p.Glu1793Gly)
c.6617A>G (p.Glu2206Gly)
c.6341A>G (p.Glu2114Gly)
c.6158A>G (p.Glu2053Gly)
c.5882A>G (p.Glu1961Gly)
c.5879A>G (p.Glu1960Gly)
c.5399A>G (p.Glu1800Gly)
c.5297A>G (p.Glu1766Gly)
c.5294A>G (p.Glu1765Gly)
c.4559A>G (p.Glu1520Gly)
c.4556A>G (p.Glu1519Gly)
c.4919A>G (p.Glu1640Gly)
c.4838A>G (p.Glu1613Gly)
c.4835A>G (p.Glu1612Gly)
c.4643A>G (p.Glu1548Gly)
dbSNP
12g.889156A>TCA383333204WNK1c.5381A>T (p.Glu1794Val)
c.6137A>T (p.Glu2046Val)
c.4160A>T (p.Glu1387Val)
c.2828A>T (p.Glu943Val)
c.6620A>T (p.Glu2207Val)
c.4640A>T (p.Glu1547Val)
c.6161A>T (p.Glu2054Val)
c.5378A>T (p.Glu1793Val)
c.6617A>T (p.Glu2206Val)
c.6341A>T (p.Glu2114Val)
c.6158A>T (p.Glu2053Val)
c.5882A>T (p.Glu1961Val)
c.5879A>T (p.Glu1960Val)
c.5399A>T (p.Glu1800Val)
c.5297A>T (p.Glu1766Val)
c.5294A>T (p.Glu1765Val)
c.4559A>T (p.Glu1520Val)
c.4556A>T (p.Glu1519Val)
c.4919A>T (p.Glu1640Val)
c.4838A>T (p.Glu1613Val)
c.4835A>T (p.Glu1612Val)
c.4643A>T (p.Glu1548Val)
12g.889157G>ACA477851767WNK1c.5382G>A (p.Glu1794=)
c.6138G>A (p.Glu2046=)
c.4161G>A (p.Glu1387=)
c.2829G>A (p.Glu943=)
c.6621G>A (p.Glu2207=)
c.4641G>A (p.Glu1547=)
c.6162G>A (p.Glu2054=)
c.5379G>A (p.Glu1793=)
c.6618G>A (p.Glu2206=)
c.6342G>A (p.Glu2114=)
c.6159G>A (p.Glu2053=)
c.5883G>A (p.Glu1961=)
c.5880G>A (p.Glu1960=)
c.5400G>A (p.Glu1800=)
c.5298G>A (p.Glu1766=)
c.5295G>A (p.Glu1765=)
c.4560G>A (p.Glu1520=)
c.4557G>A (p.Glu1519=)
c.4920G>A (p.Glu1640=)
c.4839G>A (p.Glu1613=)
c.4836G>A (p.Glu1612=)
c.4644G>A (p.Glu1548=)
12g.889157G>CCA383333205WNK1c.5382G>C (p.Glu1794Asp)
c.6138G>C (p.Glu2046Asp)
c.4161G>C (p.Glu1387Asp)
c.2829G>C (p.Glu943Asp)
c.6621G>C (p.Glu2207Asp)
c.4641G>C (p.Glu1547Asp)
c.6162G>C (p.Glu2054Asp)
c.5379G>C (p.Glu1793Asp)
c.6618G>C (p.Glu2206Asp)
c.6342G>C (p.Glu2114Asp)
c.6159G>C (p.Glu2053Asp)
c.5883G>C (p.Glu1961Asp)
c.5880G>C (p.Glu1960Asp)
c.5400G>C (p.Glu1800Asp)
c.5298G>C (p.Glu1766Asp)
c.5295G>C (p.Glu1765Asp)
c.4560G>C (p.Glu1520Asp)
c.4557G>C (p.Glu1519Asp)
c.4920G>C (p.Glu1640Asp)
c.4839G>C (p.Glu1613Asp)
c.4836G>C (p.Glu1612Asp)
c.4644G>C (p.Glu1548Asp)
12g.889157G>TCA383333206WNK1c.5382G>T (p.Glu1794Asp)
c.6138G>T (p.Glu2046Asp)
c.4161G>T (p.Glu1387Asp)
c.2829G>T (p.Glu943Asp)
c.6621G>T (p.Glu2207Asp)
c.4641G>T (p.Glu1547Asp)
c.6162G>T (p.Glu2054Asp)
c.5379G>T (p.Glu1793Asp)
c.6618G>T (p.Glu2206Asp)
c.6342G>T (p.Glu2114Asp)
c.6159G>T (p.Glu2053Asp)
c.5883G>T (p.Glu1961Asp)
c.5880G>T (p.Glu1960Asp)
c.5400G>T (p.Glu1800Asp)
c.5298G>T (p.Glu1766Asp)
c.5295G>T (p.Glu1765Asp)
c.4560G>T (p.Glu1520Asp)
c.4557G>T (p.Glu1519Asp)
c.4920G>T (p.Glu1640Asp)
c.4839G>T (p.Glu1613Asp)
c.4836G>T (p.Glu1612Asp)
c.4644G>T (p.Glu1548Asp)
12g.889158G>ACA383333207WNK1c.5383G>A (p.Asp1795Asn)
c.6139G>A (p.Asp2047Asn)
c.4162G>A (p.Asp1388Asn)
c.2830G>A (p.Asp944Asn)
c.6622G>A (p.Asp2208Asn)
c.4642G>A (p.Asp1548Asn)
c.6163G>A (p.Asp2055Asn)
c.5380G>A (p.Asp1794Asn)
c.6619G>A (p.Asp2207Asn)
c.6343G>A (p.Asp2115Asn)
c.6160G>A (p.Asp2054Asn)
c.5884G>A (p.Asp1962Asn)
c.5881G>A (p.Asp1961Asn)
c.5401G>A (p.Asp1801Asn)
c.5299G>A (p.Asp1767Asn)
c.5296G>A (p.Asp1766Asn)
c.4561G>A (p.Asp1521Asn)
c.4558G>A (p.Asp1520Asn)
c.4921G>A (p.Asp1641Asn)
c.4840G>A (p.Asp1614Asn)
c.4837G>A (p.Asp1613Asn)
c.4645G>A (p.Asp1549Asn)
12g.889158G>CCA383333208WNK1c.5383G>C (p.Asp1795His)
c.6139G>C (p.Asp2047His)
c.4162G>C (p.Asp1388His)
c.2830G>C (p.Asp944His)
c.6622G>C (p.Asp2208His)
c.4642G>C (p.Asp1548His)
c.6163G>C (p.Asp2055His)
c.5380G>C (p.Asp1794His)
c.6619G>C (p.Asp2207His)
c.6343G>C (p.Asp2115His)
c.6160G>C (p.Asp2054His)
c.5884G>C (p.Asp1962His)
c.5881G>C (p.Asp1961His)
c.5401G>C (p.Asp1801His)
c.5299G>C (p.Asp1767His)
c.5296G>C (p.Asp1766His)
c.4561G>C (p.Asp1521His)
c.4558G>C (p.Asp1520His)
c.4921G>C (p.Asp1641His)
c.4840G>C (p.Asp1614His)
c.4837G>C (p.Asp1613His)
c.4645G>C (p.Asp1549His)
12g.889158G>TCA383333209WNK1c.5383G>T (p.Asp1795Tyr)
c.6139G>T (p.Asp2047Tyr)
c.4162G>T (p.Asp1388Tyr)
c.2830G>T (p.Asp944Tyr)
c.6622G>T (p.Asp2208Tyr)
c.4642G>T (p.Asp1548Tyr)
c.6163G>T (p.Asp2055Tyr)
c.5380G>T (p.Asp1794Tyr)
c.6619G>T (p.Asp2207Tyr)
c.6343G>T (p.Asp2115Tyr)
c.6160G>T (p.Asp2054Tyr)
c.5884G>T (p.Asp1962Tyr)
c.5881G>T (p.Asp1961Tyr)
c.5401G>T (p.Asp1801Tyr)
c.5299G>T (p.Asp1767Tyr)
c.5296G>T (p.Asp1766Tyr)
c.4561G>T (p.Asp1521Tyr)
c.4558G>T (p.Asp1520Tyr)
c.4921G>T (p.Asp1641Tyr)
c.4840G>T (p.Asp1614Tyr)
c.4837G>T (p.Asp1613Tyr)
c.4645G>T (p.Asp1549Tyr)
12g.889159A>CCA383333212WNK1c.5384A>C (p.Asp1795Ala)
c.6140A>C (p.Asp2047Ala)
c.4163A>C (p.Asp1388Ala)
c.2831A>C (p.Asp944Ala)
c.6623A>C (p.Asp2208Ala)
c.4643A>C (p.Asp1548Ala)
c.6164A>C (p.Asp2055Ala)
c.5381A>C (p.Asp1794Ala)
c.6620A>C (p.Asp2207Ala)
c.6344A>C (p.Asp2115Ala)
c.6161A>C (p.Asp2054Ala)
c.5885A>C (p.Asp1962Ala)
c.5882A>C (p.Asp1961Ala)
c.5402A>C (p.Asp1801Ala)
c.5300A>C (p.Asp1767Ala)
c.5297A>C (p.Asp1766Ala)
c.4562A>C (p.Asp1521Ala)
c.4559A>C (p.Asp1520Ala)
c.4922A>C (p.Asp1641Ala)
c.4841A>C (p.Asp1614Ala)
c.4838A>C (p.Asp1613Ala)
c.4646A>C (p.Asp1549Ala)
12g.889159A>GCA383333211WNK1c.5384A>G (p.Asp1795Gly)
c.6140A>G (p.Asp2047Gly)
c.4163A>G (p.Asp1388Gly)
c.2831A>G (p.Asp944Gly)
c.6623A>G (p.Asp2208Gly)
c.4643A>G (p.Asp1548Gly)
c.6164A>G (p.Asp2055Gly)
c.5381A>G (p.Asp1794Gly)
c.6620A>G (p.Asp2207Gly)
c.6344A>G (p.Asp2115Gly)
c.6161A>G (p.Asp2054Gly)
c.5885A>G (p.Asp1962Gly)
c.5882A>G (p.Asp1961Gly)
c.5402A>G (p.Asp1801Gly)
c.5300A>G (p.Asp1767Gly)
c.5297A>G (p.Asp1766Gly)
c.4562A>G (p.Asp1521Gly)
c.4559A>G (p.Asp1520Gly)
c.4922A>G (p.Asp1641Gly)
c.4841A>G (p.Asp1614Gly)
c.4838A>G (p.Asp1613Gly)
c.4646A>G (p.Asp1549Gly)
12g.889159A>TCA383333210WNK1c.5384A>T (p.Asp1795Val)
c.6140A>T (p.Asp2047Val)
c.4163A>T (p.Asp1388Val)
c.2831A>T (p.Asp944Val)
c.6623A>T (p.Asp2208Val)
c.4643A>T (p.Asp1548Val)
c.6164A>T (p.Asp2055Val)
c.5381A>T (p.Asp1794Val)
c.6620A>T (p.Asp2207Val)
c.6344A>T (p.Asp2115Val)
c.6161A>T (p.Asp2054Val)
c.5885A>T (p.Asp1962Val)
c.5882A>T (p.Asp1961Val)
c.5402A>T (p.Asp1801Val)
c.5300A>T (p.Asp1767Val)
c.5297A>T (p.Asp1766Val)
c.4562A>T (p.Asp1521Val)
c.4559A>T (p.Asp1520Val)
c.4922A>T (p.Asp1641Val)
c.4841A>T (p.Asp1614Val)
c.4838A>T (p.Asp1613Val)
c.4646A>T (p.Asp1549Val)
12g.889160T>ACA383333213WNK1c.5385T>A (p.Asp1795Glu)
c.6141T>A (p.Asp2047Glu)
c.4164T>A (p.Asp1388Glu)
c.2832T>A (p.Asp944Glu)
c.6624T>A (p.Asp2208Glu)
c.4644T>A (p.Asp1548Glu)
c.6165T>A (p.Asp2055Glu)
c.5382T>A (p.Asp1794Glu)
c.6621T>A (p.Asp2207Glu)
c.6345T>A (p.Asp2115Glu)
c.6162T>A (p.Asp2054Glu)
c.5886T>A (p.Asp1962Glu)
c.5883T>A (p.Asp1961Glu)
c.5403T>A (p.Asp1801Glu)
c.5301T>A (p.Asp1767Glu)
c.5298T>A (p.Asp1766Glu)
c.4563T>A (p.Asp1521Glu)
c.4560T>A (p.Asp1520Glu)
c.4923T>A (p.Asp1641Glu)
c.4842T>A (p.Asp1614Glu)
c.4839T>A (p.Asp1613Glu)
c.4647T>A (p.Asp1549Glu)
gnomAD v4
12g.889160T>CCA477851769WNK1c.5385T>C (p.Asp1795=)
c.6141T>C (p.Asp2047=)
c.4164T>C (p.Asp1388=)
c.2832T>C (p.Asp944=)
c.6624T>C (p.Asp2208=)
c.4644T>C (p.Asp1548=)
c.6165T>C (p.Asp2055=)
c.5382T>C (p.Asp1794=)
c.6621T>C (p.Asp2207=)
c.6345T>C (p.Asp2115=)
c.6162T>C (p.Asp2054=)
c.5886T>C (p.Asp1962=)
c.5883T>C (p.Asp1961=)
c.5403T>C (p.Asp1801=)
c.5301T>C (p.Asp1767=)
c.5298T>C (p.Asp1766=)
c.4563T>C (p.Asp1521=)
c.4560T>C (p.Asp1520=)
c.4923T>C (p.Asp1641=)
c.4842T>C (p.Asp1614=)
c.4839T>C (p.Asp1613=)
c.4647T>C (p.Asp1549=)
12g.889160T>GCA383333214WNK1c.5385T>G (p.Asp1795Glu)
c.6141T>G (p.Asp2047Glu)
c.4164T>G (p.Asp1388Glu)
c.2832T>G (p.Asp944Glu)
c.6624T>G (p.Asp2208Glu)
c.4644T>G (p.Asp1548Glu)
c.6165T>G (p.Asp2055Glu)
c.5382T>G (p.Asp1794Glu)
c.6621T>G (p.Asp2207Glu)
c.6345T>G (p.Asp2115Glu)
c.6162T>G (p.Asp2054Glu)
c.5886T>G (p.Asp1962Glu)
c.5883T>G (p.Asp1961Glu)
c.5403T>G (p.Asp1801Glu)
c.5301T>G (p.Asp1767Glu)
c.5298T>G (p.Asp1766Glu)
c.4563T>G (p.Asp1521Glu)
c.4560T>G (p.Asp1520Glu)
c.4923T>G (p.Asp1641Glu)
c.4842T>G (p.Asp1614Glu)
c.4839T>G (p.Asp1613Glu)
c.4647T>G (p.Asp1549Glu)
12g.889161C>ACA383333215WNK1c.5386C>A (p.Leu1796Ile)
c.6142C>A (p.Leu2048Ile)
c.4165C>A (p.Leu1389Ile)
c.2833C>A (p.Leu945Ile)
c.6625C>A (p.Leu2209Ile)
c.4645C>A (p.Leu1549Ile)
c.6166C>A (p.Leu2056Ile)
c.5383C>A (p.Leu1795Ile)
c.6622C>A (p.Leu2208Ile)
c.6346C>A (p.Leu2116Ile)
c.6163C>A (p.Leu2055Ile)
c.5887C>A (p.Leu1963Ile)
c.5884C>A (p.Leu1962Ile)
c.5404C>A (p.Leu1802Ile)
c.5302C>A (p.Leu1768Ile)
c.5299C>A (p.Leu1767Ile)
c.4564C>A (p.Leu1522Ile)
c.4561C>A (p.Leu1521Ile)
c.4924C>A (p.Leu1642Ile)
c.4843C>A (p.Leu1615Ile)
c.4840C>A (p.Leu1614Ile)
c.4648C>A (p.Leu1550Ile)
12g.889161C>GCA383333216WNK1c.5386C>G (p.Leu1796Val)
c.6142C>G (p.Leu2048Val)
c.4165C>G (p.Leu1389Val)
c.2833C>G (p.Leu945Val)
c.6625C>G (p.Leu2209Val)
c.4645C>G (p.Leu1549Val)
c.6166C>G (p.Leu2056Val)
c.5383C>G (p.Leu1795Val)
c.6622C>G (p.Leu2208Val)
c.6346C>G (p.Leu2116Val)
c.6163C>G (p.Leu2055Val)
c.5887C>G (p.Leu1963Val)
c.5884C>G (p.Leu1962Val)
c.5404C>G (p.Leu1802Val)
c.5302C>G (p.Leu1768Val)
c.5299C>G (p.Leu1767Val)
c.4564C>G (p.Leu1522Val)
c.4561C>G (p.Leu1521Val)
c.4924C>G (p.Leu1642Val)
c.4843C>G (p.Leu1615Val)
c.4840C>G (p.Leu1614Val)
c.4648C>G (p.Leu1550Val)
12g.889161C>TCA383333217WNK1c.5386C>T (p.Leu1796Phe)
c.6142C>T (p.Leu2048Phe)
c.4165C>T (p.Leu1389Phe)
c.2833C>T (p.Leu945Phe)
c.6625C>T (p.Leu2209Phe)
c.4645C>T (p.Leu1549Phe)
c.6166C>T (p.Leu2056Phe)
c.5383C>T (p.Leu1795Phe)
c.6622C>T (p.Leu2208Phe)
c.6346C>T (p.Leu2116Phe)
c.6163C>T (p.Leu2055Phe)
c.5887C>T (p.Leu1963Phe)
c.5884C>T (p.Leu1962Phe)
c.5404C>T (p.Leu1802Phe)
c.5302C>T (p.Leu1768Phe)
c.5299C>T (p.Leu1767Phe)
c.4564C>T (p.Leu1522Phe)
c.4561C>T (p.Leu1521Phe)
c.4924C>T (p.Leu1642Phe)
c.4843C>T (p.Leu1615Phe)
c.4840C>T (p.Leu1614Phe)
c.4648C>T (p.Leu1550Phe)
12g.889162T>ACA383333218WNK1c.5387T>A (p.Leu1796His)
c.6143T>A (p.Leu2048His)
c.4166T>A (p.Leu1389His)
c.2834T>A (p.Leu945His)
c.6626T>A (p.Leu2209His)
c.4646T>A (p.Leu1549His)
c.6167T>A (p.Leu2056His)
c.5384T>A (p.Leu1795His)
c.6623T>A (p.Leu2208His)
c.6347T>A (p.Leu2116His)
c.6164T>A (p.Leu2055His)
c.5888T>A (p.Leu1963His)
c.5885T>A (p.Leu1962His)
c.5405T>A (p.Leu1802His)
c.5303T>A (p.Leu1768His)
c.5300T>A (p.Leu1767His)
c.4565T>A (p.Leu1522His)
c.4562T>A (p.Leu1521His)
c.4925T>A (p.Leu1642His)
c.4844T>A (p.Leu1615His)
c.4841T>A (p.Leu1614His)
c.4649T>A (p.Leu1550His)
12g.889162T>CCA6383158WNK1c.5387T>C (p.Leu1796Pro)
c.6143T>C (p.Leu2048Pro)
c.4166T>C (p.Leu1389Pro)
c.2834T>C (p.Leu945Pro)
c.6626T>C (p.Leu2209Pro)
c.4646T>C (p.Leu1549Pro)
c.6167T>C (p.Leu2056Pro)
c.5384T>C (p.Leu1795Pro)
c.6623T>C (p.Leu2208Pro)
c.6347T>C (p.Leu2116Pro)
c.6164T>C (p.Leu2055Pro)
c.5888T>C (p.Leu1963Pro)
c.5885T>C (p.Leu1962Pro)
c.5405T>C (p.Leu1802Pro)
c.5303T>C (p.Leu1768Pro)
c.5300T>C (p.Leu1767Pro)
c.4565T>C (p.Leu1522Pro)
c.4562T>C (p.Leu1521Pro)
c.4925T>C (p.Leu1642Pro)
c.4844T>C (p.Leu1615Pro)
c.4841T>C (p.Leu1614Pro)
c.4649T>C (p.Leu1550Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889162T>GCA383333219WNK1c.5387T>G (p.Leu1796Arg)
c.6143T>G (p.Leu2048Arg)
c.4166T>G (p.Leu1389Arg)
c.2834T>G (p.Leu945Arg)
c.6626T>G (p.Leu2209Arg)
c.4646T>G (p.Leu1549Arg)
c.6167T>G (p.Leu2056Arg)
c.5384T>G (p.Leu1795Arg)
c.6623T>G (p.Leu2208Arg)
c.6347T>G (p.Leu2116Arg)
c.6164T>G (p.Leu2055Arg)
c.5888T>G (p.Leu1963Arg)
c.5885T>G (p.Leu1962Arg)
c.5405T>G (p.Leu1802Arg)
c.5303T>G (p.Leu1768Arg)
c.5300T>G (p.Leu1767Arg)
c.4565T>G (p.Leu1522Arg)
c.4562T>G (p.Leu1521Arg)
c.4925T>G (p.Leu1642Arg)
c.4844T>G (p.Leu1615Arg)
c.4841T>G (p.Leu1614Arg)
c.4649T>G (p.Leu1550Arg)
12g.889162T=CA2011734344WNK1c.5387T= (p.Leu1796=)
c.6143T= (p.Leu2048=)
c.4166T= (p.Leu1389=)
c.2834T= (p.Leu945=)
c.6626T= (p.Leu2209=)
c.4646T= (p.Leu1549=)
c.6167T= (p.Leu2056=)
c.5384T= (p.Leu1795=)
c.6623T= (p.Leu2208=)
c.6347T= (p.Leu2116=)
c.6164T= (p.Leu2055=)
c.5888T= (p.Leu1963=)
c.5885T= (p.Leu1962=)
c.5405T= (p.Leu1802=)
c.5303T= (p.Leu1768=)
c.5300T= (p.Leu1767=)
c.4565T= (p.Leu1522=)
c.4562T= (p.Leu1521=)
c.4925T= (p.Leu1642=)
c.4844T= (p.Leu1615=)
c.4841T= (p.Leu1614=)
c.4649T= (p.Leu1550=)
12g.889163T>ACA477851772WNK1c.5388T>A (p.Leu1796=)
c.6144T>A (p.Leu2048=)
c.4167T>A (p.Leu1389=)
c.2835T>A (p.Leu945=)
c.6627T>A (p.Leu2209=)
c.4647T>A (p.Leu1549=)
c.6168T>A (p.Leu2056=)
c.5385T>A (p.Leu1795=)
c.6624T>A (p.Leu2208=)
c.6348T>A (p.Leu2116=)
c.6165T>A (p.Leu2055=)
c.5889T>A (p.Leu1963=)
c.5886T>A (p.Leu1962=)
c.5406T>A (p.Leu1802=)
c.5304T>A (p.Leu1768=)
c.5301T>A (p.Leu1767=)
c.4566T>A (p.Leu1522=)
c.4563T>A (p.Leu1521=)
c.4926T>A (p.Leu1642=)
c.4845T>A (p.Leu1615=)
c.4842T>A (p.Leu1614=)
c.4650T>A (p.Leu1550=)
12g.889163T>CCA477851773WNK1c.5388T>C (p.Leu1796=)
c.6144T>C (p.Leu2048=)
c.4167T>C (p.Leu1389=)
c.2835T>C (p.Leu945=)
c.6627T>C (p.Leu2209=)
c.4647T>C (p.Leu1549=)
c.6168T>C (p.Leu2056=)
c.5385T>C (p.Leu1795=)
c.6624T>C (p.Leu2208=)
c.6348T>C (p.Leu2116=)
c.6165T>C (p.Leu2055=)
c.5889T>C (p.Leu1963=)
c.5886T>C (p.Leu1962=)
c.5406T>C (p.Leu1802=)
c.5304T>C (p.Leu1768=)
c.5301T>C (p.Leu1767=)
c.4566T>C (p.Leu1522=)
c.4563T>C (p.Leu1521=)
c.4926T>C (p.Leu1642=)
c.4845T>C (p.Leu1615=)
c.4842T>C (p.Leu1614=)
c.4650T>C (p.Leu1550=)
12g.889163T>GCA477851774WNK1c.5388T>G (p.Leu1796=)
c.6144T>G (p.Leu2048=)
c.4167T>G (p.Leu1389=)
c.2835T>G (p.Leu945=)
c.6627T>G (p.Leu2209=)
c.4647T>G (p.Leu1549=)
c.6168T>G (p.Leu2056=)
c.5385T>G (p.Leu1795=)
c.6624T>G (p.Leu2208=)
c.6348T>G (p.Leu2116=)
c.6165T>G (p.Leu2055=)
c.5889T>G (p.Leu1963=)
c.5886T>G (p.Leu1962=)
c.5406T>G (p.Leu1802=)
c.5304T>G (p.Leu1768=)
c.5301T>G (p.Leu1767=)
c.4566T>G (p.Leu1522=)
c.4563T>G (p.Leu1521=)
c.4926T>G (p.Leu1642=)
c.4845T>G (p.Leu1615=)
c.4842T>G (p.Leu1614=)
c.4650T>G (p.Leu1550=)
12g.889164G>ACA383333220WNK1c.5389G>A (p.Asp1797Asn)
c.6145G>A (p.Asp2049Asn)
c.4168G>A (p.Asp1390Asn)
c.2836G>A (p.Asp946Asn)
c.6628G>A (p.Asp2210Asn)
c.4648G>A (p.Asp1550Asn)
c.6169G>A (p.Asp2057Asn)
c.5386G>A (p.Asp1796Asn)
c.6625G>A (p.Asp2209Asn)
c.6349G>A (p.Asp2117Asn)
c.6166G>A (p.Asp2056Asn)
c.5890G>A (p.Asp1964Asn)
c.5887G>A (p.Asp1963Asn)
c.5407G>A (p.Asp1803Asn)
c.5305G>A (p.Asp1769Asn)
c.5302G>A (p.Asp1768Asn)
c.4567G>A (p.Asp1523Asn)
c.4564G>A (p.Asp1522Asn)
c.4927G>A (p.Asp1643Asn)
c.4846G>A (p.Asp1616Asn)
c.4843G>A (p.Asp1615Asn)
c.4651G>A (p.Asp1551Asn)
12g.889164G>CCA383333221WNK1c.5389G>C (p.Asp1797His)
c.6145G>C (p.Asp2049His)
c.4168G>C (p.Asp1390His)
c.2836G>C (p.Asp946His)
c.6628G>C (p.Asp2210His)
c.4648G>C (p.Asp1550His)
c.6169G>C (p.Asp2057His)
c.5386G>C (p.Asp1796His)
c.6625G>C (p.Asp2209His)
c.6349G>C (p.Asp2117His)
c.6166G>C (p.Asp2056His)
c.5890G>C (p.Asp1964His)
c.5887G>C (p.Asp1963His)
c.5407G>C (p.Asp1803His)
c.5305G>C (p.Asp1769His)
c.5302G>C (p.Asp1768His)
c.4567G>C (p.Asp1523His)
c.4564G>C (p.Asp1522His)
c.4927G>C (p.Asp1643His)
c.4846G>C (p.Asp1616His)
c.4843G>C (p.Asp1615His)
c.4651G>C (p.Asp1551His)
12g.889164G>TCA383333222WNK1c.5389G>T (p.Asp1797Tyr)
c.6145G>T (p.Asp2049Tyr)
c.4168G>T (p.Asp1390Tyr)
c.2836G>T (p.Asp946Tyr)
c.6628G>T (p.Asp2210Tyr)
c.4648G>T (p.Asp1550Tyr)
c.6169G>T (p.Asp2057Tyr)
c.5386G>T (p.Asp1796Tyr)
c.6625G>T (p.Asp2209Tyr)
c.6349G>T (p.Asp2117Tyr)
c.6166G>T (p.Asp2056Tyr)
c.5890G>T (p.Asp1964Tyr)
c.5887G>T (p.Asp1963Tyr)
c.5407G>T (p.Asp1803Tyr)
c.5305G>T (p.Asp1769Tyr)
c.5302G>T (p.Asp1768Tyr)
c.4567G>T (p.Asp1523Tyr)
c.4564G>T (p.Asp1522Tyr)
c.4927G>T (p.Asp1643Tyr)
c.4846G>T (p.Asp1616Tyr)
c.4843G>T (p.Asp1615Tyr)
c.4651G>T (p.Asp1551Tyr)
12g.889165A=CA2011734346WNK1c.5390A= (p.Asp1797=)
c.6146A= (p.Asp2049=)
c.4169A= (p.Asp1390=)
c.2837A= (p.Asp946=)
c.6629A= (p.Asp2210=)
c.4649A= (p.Asp1550=)
c.6170A= (p.Asp2057=)
c.5387A= (p.Asp1796=)
c.6626A= (p.Asp2209=)
c.6350A= (p.Asp2117=)
c.6167A= (p.Asp2056=)
c.5891A= (p.Asp1964=)
c.5888A= (p.Asp1963=)
c.5408A= (p.Asp1803=)
c.5306A= (p.Asp1769=)
c.5303A= (p.Asp1768=)
c.4568A= (p.Asp1523=)
c.4565A= (p.Asp1522=)
c.4928A= (p.Asp1643=)
c.4847A= (p.Asp1616=)
c.4844A= (p.Asp1615=)
c.4652A= (p.Asp1551=)
12g.889165A>CCA383333224WNK1c.5390A>C (p.Asp1797Ala)
c.6146A>C (p.Asp2049Ala)
c.4169A>C (p.Asp1390Ala)
c.2837A>C (p.Asp946Ala)
c.6629A>C (p.Asp2210Ala)
c.4649A>C (p.Asp1550Ala)
c.6170A>C (p.Asp2057Ala)
c.5387A>C (p.Asp1796Ala)
c.6626A>C (p.Asp2209Ala)
c.6350A>C (p.Asp2117Ala)
c.6167A>C (p.Asp2056Ala)
c.5891A>C (p.Asp1964Ala)
c.5888A>C (p.Asp1963Ala)
c.5408A>C (p.Asp1803Ala)
c.5306A>C (p.Asp1769Ala)
c.5303A>C (p.Asp1768Ala)
c.4568A>C (p.Asp1523Ala)
c.4565A>C (p.Asp1522Ala)
c.4928A>C (p.Asp1643Ala)
c.4847A>C (p.Asp1616Ala)
c.4844A>C (p.Asp1615Ala)
c.4652A>C (p.Asp1551Ala)
12g.889165A>GCA383333223WNK1c.5390A>G (p.Asp1797Gly)
c.6146A>G (p.Asp2049Gly)
c.4169A>G (p.Asp1390Gly)
c.2837A>G (p.Asp946Gly)
c.6629A>G (p.Asp2210Gly)
c.4649A>G (p.Asp1550Gly)
c.6170A>G (p.Asp2057Gly)
c.5387A>G (p.Asp1796Gly)
c.6626A>G (p.Asp2209Gly)
c.6350A>G (p.Asp2117Gly)
c.6167A>G (p.Asp2056Gly)
c.5891A>G (p.Asp1964Gly)
c.5888A>G (p.Asp1963Gly)
c.5408A>G (p.Asp1803Gly)
c.5306A>G (p.Asp1769Gly)
c.5303A>G (p.Asp1768Gly)
c.4568A>G (p.Asp1523Gly)
c.4565A>G (p.Asp1522Gly)
c.4928A>G (p.Asp1643Gly)
c.4847A>G (p.Asp1616Gly)
c.4844A>G (p.Asp1615Gly)
c.4652A>G (p.Asp1551Gly)
12g.889165A>TCA6383159WNK1c.5390A>T (p.Asp1797Val)
c.6146A>T (p.Asp2049Val)
c.4169A>T (p.Asp1390Val)
c.2837A>T (p.Asp946Val)
c.6629A>T (p.Asp2210Val)
c.4649A>T (p.Asp1550Val)
c.6170A>T (p.Asp2057Val)
c.5387A>T (p.Asp1796Val)
c.6626A>T (p.Asp2209Val)
c.6350A>T (p.Asp2117Val)
c.6167A>T (p.Asp2056Val)
c.5891A>T (p.Asp1964Val)
c.5888A>T (p.Asp1963Val)
c.5408A>T (p.Asp1803Val)
c.5306A>T (p.Asp1769Val)
c.5303A>T (p.Asp1768Val)
c.4568A>T (p.Asp1523Val)
c.4565A>T (p.Asp1522Val)
c.4928A>T (p.Asp1643Val)
c.4847A>T (p.Asp1616Val)
c.4844A>T (p.Asp1615Val)
c.4652A>T (p.Asp1551Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.889166T>ACA383333225WNK1c.5391T>A (p.Asp1797Glu)
c.6147T>A (p.Asp2049Glu)
c.4170T>A (p.Asp1390Glu)
c.2838T>A (p.Asp946Glu)
c.6630T>A (p.Asp2210Glu)
c.4650T>A (p.Asp1550Glu)
c.6171T>A (p.Asp2057Glu)
c.5388T>A (p.Asp1796Glu)
c.6627T>A (p.Asp2209Glu)
c.6351T>A (p.Asp2117Glu)
c.6168T>A (p.Asp2056Glu)
c.5892T>A (p.Asp1964Glu)
c.5889T>A (p.Asp1963Glu)
c.5409T>A (p.Asp1803Glu)
c.5307T>A (p.Asp1769Glu)
c.5304T>A (p.Asp1768Glu)
c.4569T>A (p.Asp1523Glu)
c.4566T>A (p.Asp1522Glu)
c.4929T>A (p.Asp1643Glu)
c.4848T>A (p.Asp1616Glu)
c.4845T>A (p.Asp1615Glu)
c.4653T>A (p.Asp1551Glu)
12g.889166T>CCA477851777WNK1c.5391T>C (p.Asp1797=)
c.6147T>C (p.Asp2049=)
c.4170T>C (p.Asp1390=)
c.2838T>C (p.Asp946=)
c.6630T>C (p.Asp2210=)
c.4650T>C (p.Asp1550=)
c.6171T>C (p.Asp2057=)
c.5388T>C (p.Asp1796=)
c.6627T>C (p.Asp2209=)
c.6351T>C (p.Asp2117=)
c.6168T>C (p.Asp2056=)
c.5892T>C (p.Asp1964=)
c.5889T>C (p.Asp1963=)
c.5409T>C (p.Asp1803=)
c.5307T>C (p.Asp1769=)
c.5304T>C (p.Asp1768=)
c.4569T>C (p.Asp1523=)
c.4566T>C (p.Asp1522=)
c.4929T>C (p.Asp1643=)
c.4848T>C (p.Asp1616=)
c.4845T>C (p.Asp1615=)
c.4653T>C (p.Asp1551=)
12g.889166T>GCA383333226WNK1c.5391T>G (p.Asp1797Glu)
c.6147T>G (p.Asp2049Glu)
c.4170T>G (p.Asp1390Glu)
c.2838T>G (p.Asp946Glu)
c.6630T>G (p.Asp2210Glu)
c.4650T>G (p.Asp1550Glu)
c.6171T>G (p.Asp2057Glu)
c.5388T>G (p.Asp1796Glu)
c.6627T>G (p.Asp2209Glu)
c.6351T>G (p.Asp2117Glu)
c.6168T>G (p.Asp2056Glu)
c.5892T>G (p.Asp1964Glu)
c.5889T>G (p.Asp1963Glu)
c.5409T>G (p.Asp1803Glu)
c.5307T>G (p.Asp1769Glu)
c.5304T>G (p.Asp1768Glu)
c.4569T>G (p.Asp1523Glu)
c.4566T>G (p.Asp1522Glu)
c.4929T>G (p.Asp1643Glu)
c.4848T>G (p.Asp1616Glu)
c.4845T>G (p.Asp1615Glu)
c.4653T>G (p.Asp1551Glu)
12g.889167G>ACA383333227WNK1c.5392G>A (p.Ala1798Thr)
c.6148G>A (p.Ala2050Thr)
c.4171G>A (p.Ala1391Thr)
c.2839G>A (p.Ala947Thr)
c.6631G>A (p.Ala2211Thr)
c.4651G>A (p.Ala1551Thr)
c.6172G>A (p.Ala2058Thr)
c.5389G>A (p.Ala1797Thr)
c.6628G>A (p.Ala2210Thr)
c.6352G>A (p.Ala2118Thr)
c.6169G>A (p.Ala2057Thr)
c.5893G>A (p.Ala1965Thr)
c.5890G>A (p.Ala1964Thr)
c.5410G>A (p.Ala1804Thr)
c.5308G>A (p.Ala1770Thr)
c.5305G>A (p.Ala1769Thr)
c.4570G>A (p.Ala1524Thr)
c.4567G>A (p.Ala1523Thr)
c.4930G>A (p.Ala1644Thr)
c.4849G>A (p.Ala1617Thr)
c.4846G>A (p.Ala1616Thr)
c.4654G>A (p.Ala1552Thr)
12g.889167G>CCA383333228WNK1c.5392G>C (p.Ala1798Pro)
c.6148G>C (p.Ala2050Pro)
c.4171G>C (p.Ala1391Pro)
c.2839G>C (p.Ala947Pro)
c.6631G>C (p.Ala2211Pro)
c.4651G>C (p.Ala1551Pro)
c.6172G>C (p.Ala2058Pro)
c.5389G>C (p.Ala1797Pro)
c.6628G>C (p.Ala2210Pro)
c.6352G>C (p.Ala2118Pro)
c.6169G>C (p.Ala2057Pro)
c.5893G>C (p.Ala1965Pro)
c.5890G>C (p.Ala1964Pro)
c.5410G>C (p.Ala1804Pro)
c.5308G>C (p.Ala1770Pro)
c.5305G>C (p.Ala1769Pro)
c.4570G>C (p.Ala1524Pro)
c.4567G>C (p.Ala1523Pro)
c.4930G>C (p.Ala1644Pro)
c.4849G>C (p.Ala1617Pro)
c.4846G>C (p.Ala1616Pro)
c.4654G>C (p.Ala1552Pro)
12g.889167G=CA2011734348WNK1c.5392G= (p.Ala1798=)
c.6148G= (p.Ala2050=)
c.4171G= (p.Ala1391=)
c.2839G= (p.Ala947=)
c.6631G= (p.Ala2211=)
c.4651G= (p.Ala1551=)
c.6172G= (p.Ala2058=)
c.5389G= (p.Ala1797=)
c.6628G= (p.Ala2210=)
c.6352G= (p.Ala2118=)
c.6169G= (p.Ala2057=)
c.5893G= (p.Ala1965=)
c.5890G= (p.Ala1964=)
c.5410G= (p.Ala1804=)
c.5308G= (p.Ala1770=)
c.5305G= (p.Ala1769=)
c.4570G= (p.Ala1524=)
c.4567G= (p.Ala1523=)
c.4930G= (p.Ala1644=)
c.4849G= (p.Ala1617=)
c.4846G= (p.Ala1616=)
c.4654G= (p.Ala1552=)
12g.889167G>TCA383333229WNK1c.5392G>T (p.Ala1798Ser)
c.6148G>T (p.Ala2050Ser)
c.4171G>T (p.Ala1391Ser)
c.2839G>T (p.Ala947Ser)
c.6631G>T (p.Ala2211Ser)
c.4651G>T (p.Ala1551Ser)
c.6172G>T (p.Ala2058Ser)
c.5389G>T (p.Ala1797Ser)
c.6628G>T (p.Ala2210Ser)
c.6352G>T (p.Ala2118Ser)
c.6169G>T (p.Ala2057Ser)
c.5893G>T (p.Ala1965Ser)
c.5890G>T (p.Ala1964Ser)
c.5410G>T (p.Ala1804Ser)
c.5308G>T (p.Ala1770Ser)
c.5305G>T (p.Ala1769Ser)
c.4570G>T (p.Ala1524Ser)
c.4567G>T (p.Ala1523Ser)
c.4930G>T (p.Ala1644Ser)
c.4849G>T (p.Ala1617Ser)
c.4846G>T (p.Ala1616Ser)
c.4654G>T (p.Ala1552Ser)
dbSNP
12g.889168C>ACA383333230WNK1c.5393C>A (p.Ala1798Asp)
c.6149C>A (p.Ala2050Asp)
c.4172C>A (p.Ala1391Asp)
c.2840C>A (p.Ala947Asp)
c.6632C>A (p.Ala2211Asp)
c.4652C>A (p.Ala1551Asp)
c.6173C>A (p.Ala2058Asp)
c.5390C>A (p.Ala1797Asp)
c.6629C>A (p.Ala2210Asp)
c.6353C>A (p.Ala2118Asp)
c.6170C>A (p.Ala2057Asp)
c.5894C>A (p.Ala1965Asp)
c.5891C>A (p.Ala1964Asp)
c.5411C>A (p.Ala1804Asp)
c.5309C>A (p.Ala1770Asp)
c.5306C>A (p.Ala1769Asp)
c.4571C>A (p.Ala1524Asp)
c.4568C>A (p.Ala1523Asp)
c.4931C>A (p.Ala1644Asp)
c.4850C>A (p.Ala1617Asp)
c.4847C>A (p.Ala1616Asp)
c.4655C>A (p.Ala1552Asp)
12g.889168C>GCA383333231WNK1c.5393C>G (p.Ala1798Gly)
c.6149C>G (p.Ala2050Gly)
c.4172C>G (p.Ala1391Gly)
c.2840C>G (p.Ala947Gly)
c.6632C>G (p.Ala2211Gly)
c.4652C>G (p.Ala1551Gly)
c.6173C>G (p.Ala2058Gly)
c.5390C>G (p.Ala1797Gly)
c.6629C>G (p.Ala2210Gly)
c.6353C>G (p.Ala2118Gly)
c.6170C>G (p.Ala2057Gly)
c.5894C>G (p.Ala1965Gly)
c.5891C>G (p.Ala1964Gly)
c.5411C>G (p.Ala1804Gly)
c.5309C>G (p.Ala1770Gly)
c.5306C>G (p.Ala1769Gly)
c.4571C>G (p.Ala1524Gly)
c.4568C>G (p.Ala1523Gly)
c.4931C>G (p.Ala1644Gly)
c.4850C>G (p.Ala1617Gly)
c.4847C>G (p.Ala1616Gly)
c.4655C>G (p.Ala1552Gly)
12g.889168C>TCA383333232WNK1c.5393C>T (p.Ala1798Val)
c.6149C>T (p.Ala2050Val)
c.4172C>T (p.Ala1391Val)
c.2840C>T (p.Ala947Val)
c.6632C>T (p.Ala2211Val)
c.4652C>T (p.Ala1551Val)
c.6173C>T (p.Ala2058Val)
c.5390C>T (p.Ala1797Val)
c.6629C>T (p.Ala2210Val)
c.6353C>T (p.Ala2118Val)
c.6170C>T (p.Ala2057Val)
c.5894C>T (p.Ala1965Val)
c.5891C>T (p.Ala1964Val)
c.5411C>T (p.Ala1804Val)
c.5309C>T (p.Ala1770Val)
c.5306C>T (p.Ala1769Val)
c.4571C>T (p.Ala1524Val)
c.4568C>T (p.Ala1523Val)
c.4931C>T (p.Ala1644Val)
c.4850C>T (p.Ala1617Val)
c.4847C>T (p.Ala1616Val)
c.4655C>T (p.Ala1552Val)
12g.889169T>ACA477851778WNK1c.5394T>A (p.Ala1798=)
c.6150T>A (p.Ala2050=)
c.4173T>A (p.Ala1391=)
c.2841T>A (p.Ala947=)
c.6633T>A (p.Ala2211=)
c.4653T>A (p.Ala1551=)
c.6174T>A (p.Ala2058=)
c.5391T>A (p.Ala1797=)
c.6630T>A (p.Ala2210=)
c.6354T>A (p.Ala2118=)
c.6171T>A (p.Ala2057=)
c.5895T>A (p.Ala1965=)
c.5892T>A (p.Ala1964=)
c.5412T>A (p.Ala1804=)
c.5310T>A (p.Ala1770=)
c.5307T>A (p.Ala1769=)
c.4572T>A (p.Ala1524=)
c.4569T>A (p.Ala1523=)
c.4932T>A (p.Ala1644=)
c.4851T>A (p.Ala1617=)
c.4848T>A (p.Ala1616=)
c.4656T>A (p.Ala1552=)
12g.889169T>CCA477851780WNK1c.5394T>C (p.Ala1798=)
c.6150T>C (p.Ala2050=)
c.4173T>C (p.Ala1391=)
c.2841T>C (p.Ala947=)
c.6633T>C (p.Ala2211=)
c.4653T>C (p.Ala1551=)
c.6174T>C (p.Ala2058=)
c.5391T>C (p.Ala1797=)
c.6630T>C (p.Ala2210=)
c.6354T>C (p.Ala2118=)
c.6171T>C (p.Ala2057=)
c.5895T>C (p.Ala1965=)
c.5892T>C (p.Ala1964=)
c.5412T>C (p.Ala1804=)
c.5310T>C (p.Ala1770=)
c.5307T>C (p.Ala1769=)
c.4572T>C (p.Ala1524=)
c.4569T>C (p.Ala1523=)
c.4932T>C (p.Ala1644=)
c.4851T>C (p.Ala1617=)
c.4848T>C (p.Ala1616=)
c.4656T>C (p.Ala1552=)
dbSNP gnomAD v2 gnomAD v4
12g.889169T>GCA477851779WNK1c.5394T>G (p.Ala1798=)
c.6150T>G (p.Ala2050=)
c.4173T>G (p.Ala1391=)
c.2841T>G (p.Ala947=)
c.6633T>G (p.Ala2211=)
c.4653T>G (p.Ala1551=)
c.6174T>G (p.Ala2058=)
c.5391T>G (p.Ala1797=)
c.6630T>G (p.Ala2210=)
c.6354T>G (p.Ala2118=)
c.6171T>G (p.Ala2057=)
c.5895T>G (p.Ala1965=)
c.5892T>G (p.Ala1964=)
c.5412T>G (p.Ala1804=)
c.5310T>G (p.Ala1770=)
c.5307T>G (p.Ala1769=)
c.4572T>G (p.Ala1524=)
c.4569T>G (p.Ala1523=)
c.4932T>G (p.Ala1644=)
c.4851T>G (p.Ala1617=)
c.4848T>G (p.Ala1616=)
c.4656T>G (p.Ala1552=)
12g.889169T=CA2011734350WNK1c.5394T= (p.Ala1798=)
c.6150T= (p.Ala2050=)
c.4173T= (p.Ala1391=)
c.2841T= (p.Ala947=)
c.6633T= (p.Ala2211=)
c.4653T= (p.Ala1551=)
c.6174T= (p.Ala2058=)
c.5391T= (p.Ala1797=)
c.6630T= (p.Ala2210=)
c.6354T= (p.Ala2118=)
c.6171T= (p.Ala2057=)
c.5895T= (p.Ala1965=)
c.5892T= (p.Ala1964=)
c.5412T= (p.Ala1804=)
c.5310T= (p.Ala1770=)
c.5307T= (p.Ala1769=)
c.4572T= (p.Ala1524=)
c.4569T= (p.Ala1523=)
c.4932T= (p.Ala1644=)
c.4851T= (p.Ala1617=)
c.4848T= (p.Ala1616=)
c.4656T= (p.Ala1552=)
12g.889170C>ACA383333233WNK1c.5395C>A (p.Gln1799Lys)
c.6151C>A (p.Gln2051Lys)
c.4174C>A (p.Gln1392Lys)
c.2842C>A (p.Gln948Lys)
c.6634C>A (p.Gln2212Lys)
c.4654C>A (p.Gln1552Lys)
c.6175C>A (p.Gln2059Lys)
c.5392C>A (p.Gln1798Lys)
c.6631C>A (p.Gln2211Lys)
c.6355C>A (p.Gln2119Lys)
c.6172C>A (p.Gln2058Lys)
c.5896C>A (p.Gln1966Lys)
c.5893C>A (p.Gln1965Lys)
c.5413C>A (p.Gln1805Lys)
c.5311C>A (p.Gln1771Lys)
c.5308C>A (p.Gln1770Lys)
c.4573C>A (p.Gln1525Lys)
c.4570C>A (p.Gln1524Lys)
c.4933C>A (p.Gln1645Lys)
c.4852C>A (p.Gln1618Lys)
c.4849C>A (p.Gln1617Lys)
c.4657C>A (p.Gln1553Lys)
12g.889170C>GCA383333234WNK1c.5395C>G (p.Gln1799Glu)
c.6151C>G (p.Gln2051Glu)
c.4174C>G (p.Gln1392Glu)
c.2842C>G (p.Gln948Glu)
c.6634C>G (p.Gln2212Glu)
c.4654C>G (p.Gln1552Glu)
c.6175C>G (p.Gln2059Glu)
c.5392C>G (p.Gln1798Glu)
c.6631C>G (p.Gln2211Glu)
c.6355C>G (p.Gln2119Glu)
c.6172C>G (p.Gln2058Glu)
c.5896C>G (p.Gln1966Glu)
c.5893C>G (p.Gln1965Glu)
c.5413C>G (p.Gln1805Glu)
c.5311C>G (p.Gln1771Glu)
c.5308C>G (p.Gln1770Glu)
c.4573C>G (p.Gln1525Glu)
c.4570C>G (p.Gln1524Glu)
c.4933C>G (p.Gln1645Glu)
c.4852C>G (p.Gln1618Glu)
c.4849C>G (p.Gln1617Glu)
c.4657C>G (p.Gln1553Glu)
COSMIC
12g.889170C>TCA383333235WNK1c.5395C>T (p.Gln1799Ter)
c.6151C>T (p.Gln2051Ter)
c.4174C>T (p.Gln1392Ter)
c.2842C>T (p.Gln948Ter)
c.6634C>T (p.Gln2212Ter)
c.4654C>T (p.Gln1552Ter)
c.6175C>T (p.Gln2059Ter)
c.5392C>T (p.Gln1798Ter)
c.6631C>T (p.Gln2211Ter)
c.6355C>T (p.Gln2119Ter)
c.6172C>T (p.Gln2058Ter)
c.5896C>T (p.Gln1966Ter)
c.5893C>T (p.Gln1965Ter)
c.5413C>T (p.Gln1805Ter)
c.5311C>T (p.Gln1771Ter)
c.5308C>T (p.Gln1770Ter)
c.4573C>T (p.Gln1525Ter)
c.4570C>T (p.Gln1524Ter)
c.4933C>T (p.Gln1645Ter)
c.4852C>T (p.Gln1618Ter)
c.4849C>T (p.Gln1617Ter)
c.4657C>T (p.Gln1553Ter)
12g.889171A=CA2011734353WNK1c.5396A= (p.Gln1799=)
c.6152A= (p.Gln2051=)
c.4175A= (p.Gln1392=)
c.2843A= (p.Gln948=)
c.6635A= (p.Gln2212=)
c.4655A= (p.Gln1552=)
c.6176A= (p.Gln2059=)
c.5393A= (p.Gln1798=)
c.6632A= (p.Gln2211=)
c.6356A= (p.Gln2119=)
c.6173A= (p.Gln2058=)
c.5897A= (p.Gln1966=)
c.5894A= (p.Gln1965=)
c.5414A= (p.Gln1805=)
c.5312A= (p.Gln1771=)
c.5309A= (p.Gln1770=)
c.4574A= (p.Gln1525=)
c.4571A= (p.Gln1524=)
c.4934A= (p.Gln1645=)
c.4853A= (p.Gln1618=)
c.4850A= (p.Gln1617=)
c.4658A= (p.Gln1553=)
12g.889171A>CCA383333238WNK1c.5396A>C (p.Gln1799Pro)
c.6152A>C (p.Gln2051Pro)
c.4175A>C (p.Gln1392Pro)
c.2843A>C (p.Gln948Pro)
c.6635A>C (p.Gln2212Pro)
c.4655A>C (p.Gln1552Pro)
c.6176A>C (p.Gln2059Pro)
c.5393A>C (p.Gln1798Pro)
c.6632A>C (p.Gln2211Pro)
c.6356A>C (p.Gln2119Pro)
c.6173A>C (p.Gln2058Pro)
c.5897A>C (p.Gln1966Pro)
c.5894A>C (p.Gln1965Pro)
c.5414A>C (p.Gln1805Pro)
c.5312A>C (p.Gln1771Pro)
c.5309A>C (p.Gln1770Pro)
c.4574A>C (p.Gln1525Pro)
c.4571A>C (p.Gln1524Pro)
c.4934A>C (p.Gln1645Pro)
c.4853A>C (p.Gln1618Pro)
c.4850A>C (p.Gln1617Pro)
c.4658A>C (p.Gln1553Pro)
12g.889171A>GCA383333237WNK1c.5396A>G (p.Gln1799Arg)
c.6152A>G (p.Gln2051Arg)
c.4175A>G (p.Gln1392Arg)
c.2843A>G (p.Gln948Arg)
c.6635A>G (p.Gln2212Arg)
c.4655A>G (p.Gln1552Arg)
c.6176A>G (p.Gln2059Arg)
c.5393A>G (p.Gln1798Arg)
c.6632A>G (p.Gln2211Arg)
c.6356A>G (p.Gln2119Arg)
c.6173A>G (p.Gln2058Arg)
c.5897A>G (p.Gln1966Arg)
c.5894A>G (p.Gln1965Arg)
c.5414A>G (p.Gln1805Arg)
c.5312A>G (p.Gln1771Arg)
c.5309A>G (p.Gln1770Arg)
c.4574A>G (p.Gln1525Arg)
c.4571A>G (p.Gln1524Arg)
c.4934A>G (p.Gln1645Arg)
c.4853A>G (p.Gln1618Arg)
c.4850A>G (p.Gln1617Arg)
c.4658A>G (p.Gln1553Arg)
dbSNP gnomAD v2 gnomAD v4
12g.889171A>TCA383333236WNK1c.5396A>T (p.Gln1799Leu)
c.6152A>T (p.Gln2051Leu)
c.4175A>T (p.Gln1392Leu)
c.2843A>T (p.Gln948Leu)
c.6635A>T (p.Gln2212Leu)
c.4655A>T (p.Gln1552Leu)
c.6176A>T (p.Gln2059Leu)
c.5393A>T (p.Gln1798Leu)
c.6632A>T (p.Gln2211Leu)
c.6356A>T (p.Gln2119Leu)
c.6173A>T (p.Gln2058Leu)
c.5897A>T (p.Gln1966Leu)
c.5894A>T (p.Gln1965Leu)
c.5414A>T (p.Gln1805Leu)
c.5312A>T (p.Gln1771Leu)
c.5309A>T (p.Gln1770Leu)
c.4574A>T (p.Gln1525Leu)
c.4571A>T (p.Gln1524Leu)
c.4934A>T (p.Gln1645Leu)
c.4853A>T (p.Gln1618Leu)
c.4850A>T (p.Gln1617Leu)
c.4658A>T (p.Gln1553Leu)
12g.889172A=CA2011734357WNK1c.5397A= (p.Gln1799=)
c.6153A= (p.Gln2051=)
c.4176A= (p.Gln1392=)
c.2844A= (p.Gln948=)
c.6636A= (p.Gln2212=)
c.4656A= (p.Gln1552=)
c.6177A= (p.Gln2059=)
c.5394A= (p.Gln1798=)
c.6633A= (p.Gln2211=)
c.6357A= (p.Gln2119=)
c.6174A= (p.Gln2058=)
c.5898A= (p.Gln1966=)
c.5895A= (p.Gln1965=)
c.5415A= (p.Gln1805=)
c.5313A= (p.Gln1771=)
c.5310A= (p.Gln1770=)
c.4575A= (p.Gln1525=)
c.4572A= (p.Gln1524=)
c.4935A= (p.Gln1645=)
c.4854A= (p.Gln1618=)
c.4851A= (p.Gln1617=)
c.4659A= (p.Gln1553=)
12g.889172A>CCA383333239WNK1c.5397A>C (p.Gln1799His)
c.6153A>C (p.Gln2051His)
c.4176A>C (p.Gln1392His)
c.2844A>C (p.Gln948His)
c.6636A>C (p.Gln2212His)
c.4656A>C (p.Gln1552His)
c.6177A>C (p.Gln2059His)
c.5394A>C (p.Gln1798His)
c.6633A>C (p.Gln2211His)
c.6357A>C (p.Gln2119His)
c.6174A>C (p.Gln2058His)
c.5898A>C (p.Gln1966His)
c.5895A>C (p.Gln1965His)
c.5415A>C (p.Gln1805His)
c.5313A>C (p.Gln1771His)
c.5310A>C (p.Gln1770His)
c.4575A>C (p.Gln1525His)
c.4572A>C (p.Gln1524His)
c.4935A>C (p.Gln1645His)
c.4854A>C (p.Gln1618His)
c.4851A>C (p.Gln1617His)
c.4659A>C (p.Gln1553His)
gnomAD v4
12g.889172A>GCA6383160WNK1c.5397A>G (p.Gln1799=)
c.6153A>G (p.Gln2051=)
c.4176A>G (p.Gln1392=)
c.2844A>G (p.Gln948=)
c.6636A>G (p.Gln2212=)
c.4656A>G (p.Gln1552=)
c.6177A>G (p.Gln2059=)
c.5394A>G (p.Gln1798=)
c.6633A>G (p.Gln2211=)
c.6357A>G (p.Gln2119=)
c.6174A>G (p.Gln2058=)
c.5898A>G (p.Gln1966=)
c.5895A>G (p.Gln1965=)
c.5415A>G (p.Gln1805=)
c.5313A>G (p.Gln1771=)
c.5310A>G (p.Gln1770=)
c.4575A>G (p.Gln1525=)
c.4572A>G (p.Gln1524=)
c.4935A>G (p.Gln1645=)
c.4854A>G (p.Gln1618=)
c.4851A>G (p.Gln1617=)
c.4659A>G (p.Gln1553=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889172A>TCA383333240WNK1c.5397A>T (p.Gln1799His)
c.6153A>T (p.Gln2051His)
c.4176A>T (p.Gln1392His)
c.2844A>T (p.Gln948His)
c.6636A>T (p.Gln2212His)
c.4656A>T (p.Gln1552His)
c.6177A>T (p.Gln2059His)
c.5394A>T (p.Gln1798His)
c.6633A>T (p.Gln2211His)
c.6357A>T (p.Gln2119His)
c.6174A>T (p.Gln2058His)
c.5898A>T (p.Gln1966His)
c.5895A>T (p.Gln1965His)
c.5415A>T (p.Gln1805His)
c.5313A>T (p.Gln1771His)
c.5310A>T (p.Gln1770His)
c.4575A>T (p.Gln1525His)
c.4572A>T (p.Gln1524His)
c.4935A>T (p.Gln1645His)
c.4854A>T (p.Gln1618His)
c.4851A>T (p.Gln1617His)
c.4659A>T (p.Gln1553His)
12g.889173T>ACA383333241WNK1c.5398T>A (p.Leu1800Met)
c.6154T>A (p.Leu2052Met)
c.4177T>A (p.Leu1393Met)
c.2845T>A (p.Leu949Met)
c.6637T>A (p.Leu2213Met)
c.4657T>A (p.Leu1553Met)
c.6178T>A (p.Leu2060Met)
c.5395T>A (p.Leu1799Met)
c.6634T>A (p.Leu2212Met)
c.6358T>A (p.Leu2120Met)
c.6175T>A (p.Leu2059Met)
c.5899T>A (p.Leu1967Met)
c.5896T>A (p.Leu1966Met)
c.5416T>A (p.Leu1806Met)
c.5314T>A (p.Leu1772Met)
c.5311T>A (p.Leu1771Met)
c.4576T>A (p.Leu1526Met)
c.4573T>A (p.Leu1525Met)
c.4936T>A (p.Leu1646Met)
c.4855T>A (p.Leu1619Met)
c.4852T>A (p.Leu1618Met)
c.4660T>A (p.Leu1554Met)
12g.889173T>CCA6383161WNK1c.5398T>C (p.Leu1800=)
c.6154T>C (p.Leu2052=)
c.4177T>C (p.Leu1393=)
c.2845T>C (p.Leu949=)
c.6637T>C (p.Leu2213=)
c.4657T>C (p.Leu1553=)
c.6178T>C (p.Leu2060=)
c.5395T>C (p.Leu1799=)
c.6634T>C (p.Leu2212=)
c.6358T>C (p.Leu2120=)
c.6175T>C (p.Leu2059=)
c.5899T>C (p.Leu1967=)
c.5896T>C (p.Leu1966=)
c.5416T>C (p.Leu1806=)
c.5314T>C (p.Leu1772=)
c.5311T>C (p.Leu1771=)
c.4576T>C (p.Leu1526=)
c.4573T>C (p.Leu1525=)
c.4936T>C (p.Leu1646=)
c.4855T>C (p.Leu1619=)
c.4852T>C (p.Leu1618=)
c.4660T>C (p.Leu1554=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889173T>GCA383333242WNK1c.5398T>G (p.Leu1800Val)
c.6154T>G (p.Leu2052Val)
c.4177T>G (p.Leu1393Val)
c.2845T>G (p.Leu949Val)
c.6637T>G (p.Leu2213Val)
c.4657T>G (p.Leu1553Val)
c.6178T>G (p.Leu2060Val)
c.5395T>G (p.Leu1799Val)
c.6634T>G (p.Leu2212Val)
c.6358T>G (p.Leu2120Val)
c.6175T>G (p.Leu2059Val)
c.5899T>G (p.Leu1967Val)
c.5896T>G (p.Leu1966Val)
c.5416T>G (p.Leu1806Val)
c.5314T>G (p.Leu1772Val)
c.5311T>G (p.Leu1771Val)
c.4576T>G (p.Leu1526Val)
c.4573T>G (p.Leu1525Val)
c.4936T>G (p.Leu1646Val)
c.4855T>G (p.Leu1619Val)
c.4852T>G (p.Leu1618Val)
c.4660T>G (p.Leu1554Val)
12g.889173T=CA2011734363WNK1c.5398T= (p.Leu1800=)
c.6154T= (p.Leu2052=)
c.4177T= (p.Leu1393=)
c.2845T= (p.Leu949=)
c.6637T= (p.Leu2213=)
c.4657T= (p.Leu1553=)
c.6178T= (p.Leu2060=)
c.5395T= (p.Leu1799=)
c.6634T= (p.Leu2212=)
c.6358T= (p.Leu2120=)
c.6175T= (p.Leu2059=)
c.5899T= (p.Leu1967=)
c.5896T= (p.Leu1966=)
c.5416T= (p.Leu1806=)
c.5314T= (p.Leu1772=)
c.5311T= (p.Leu1771=)
c.4576T= (p.Leu1526=)
c.4573T= (p.Leu1525=)
c.4936T= (p.Leu1646=)
c.4855T= (p.Leu1619=)
c.4852T= (p.Leu1618=)
c.4660T= (p.Leu1554=)
12g.889174T>ACA383333243WNK1c.5399T>A (p.Leu1800Ter)
c.6155T>A (p.Leu2052Ter)
c.4178T>A (p.Leu1393Ter)
c.2846T>A (p.Leu949Ter)
c.6638T>A (p.Leu2213Ter)
c.4658T>A (p.Leu1553Ter)
c.6179T>A (p.Leu2060Ter)
c.5396T>A (p.Leu1799Ter)
c.6635T>A (p.Leu2212Ter)
c.6359T>A (p.Leu2120Ter)
c.6176T>A (p.Leu2059Ter)
c.5900T>A (p.Leu1967Ter)
c.5897T>A (p.Leu1966Ter)
c.5417T>A (p.Leu1806Ter)
c.5315T>A (p.Leu1772Ter)
c.5312T>A (p.Leu1771Ter)
c.4577T>A (p.Leu1526Ter)
c.4574T>A (p.Leu1525Ter)
c.4937T>A (p.Leu1646Ter)
c.4856T>A (p.Leu1619Ter)
c.4853T>A (p.Leu1618Ter)
c.4661T>A (p.Leu1554Ter)
12g.889174T>CCA383333244WNK1c.5399T>C (p.Leu1800Ser)
c.6155T>C (p.Leu2052Ser)
c.4178T>C (p.Leu1393Ser)
c.2846T>C (p.Leu949Ser)
c.6638T>C (p.Leu2213Ser)
c.4658T>C (p.Leu1553Ser)
c.6179T>C (p.Leu2060Ser)
c.5396T>C (p.Leu1799Ser)
c.6635T>C (p.Leu2212Ser)
c.6359T>C (p.Leu2120Ser)
c.6176T>C (p.Leu2059Ser)
c.5900T>C (p.Leu1967Ser)
c.5897T>C (p.Leu1966Ser)
c.5417T>C (p.Leu1806Ser)
c.5315T>C (p.Leu1772Ser)
c.5312T>C (p.Leu1771Ser)
c.4577T>C (p.Leu1526Ser)
c.4574T>C (p.Leu1525Ser)
c.4937T>C (p.Leu1646Ser)
c.4856T>C (p.Leu1619Ser)
c.4853T>C (p.Leu1618Ser)
c.4661T>C (p.Leu1554Ser)
12g.889174T>GCA383333245WNK1c.5399T>G (p.Leu1800Trp)
c.6155T>G (p.Leu2052Trp)
c.4178T>G (p.Leu1393Trp)
c.2846T>G (p.Leu949Trp)
c.6638T>G (p.Leu2213Trp)
c.4658T>G (p.Leu1553Trp)
c.6179T>G (p.Leu2060Trp)
c.5396T>G (p.Leu1799Trp)
c.6635T>G (p.Leu2212Trp)
c.6359T>G (p.Leu2120Trp)
c.6176T>G (p.Leu2059Trp)
c.5900T>G (p.Leu1967Trp)
c.5897T>G (p.Leu1966Trp)
c.5417T>G (p.Leu1806Trp)
c.5315T>G (p.Leu1772Trp)
c.5312T>G (p.Leu1771Trp)
c.4577T>G (p.Leu1526Trp)
c.4574T>G (p.Leu1525Trp)
c.4937T>G (p.Leu1646Trp)
c.4856T>G (p.Leu1619Trp)
c.4853T>G (p.Leu1618Trp)
c.4661T>G (p.Leu1554Trp)
12g.889175G>ACA477851781WNK1c.5400G>A (p.Leu1800=)
c.6156G>A (p.Leu2052=)
c.4179G>A (p.Leu1393=)
c.2847G>A (p.Leu949=)
c.6639G>A (p.Leu2213=)
c.4659G>A (p.Leu1553=)
c.6180G>A (p.Leu2060=)
c.5397G>A (p.Leu1799=)
c.6636G>A (p.Leu2212=)
c.6360G>A (p.Leu2120=)
c.6177G>A (p.Leu2059=)
c.5901G>A (p.Leu1967=)
c.5898G>A (p.Leu1966=)
c.5418G>A (p.Leu1806=)
c.5316G>A (p.Leu1772=)
c.5313G>A (p.Leu1771=)
c.4578G>A (p.Leu1526=)
c.4575G>A (p.Leu1525=)
c.4938G>A (p.Leu1646=)
c.4857G>A (p.Leu1619=)
c.4854G>A (p.Leu1618=)
c.4662G>A (p.Leu1554=)
12g.889175G>CCA383333246WNK1c.5400G>C (p.Leu1800Phe)
c.6156G>C (p.Leu2052Phe)
c.4179G>C (p.Leu1393Phe)
c.2847G>C (p.Leu949Phe)
c.6639G>C (p.Leu2213Phe)
c.4659G>C (p.Leu1553Phe)
c.6180G>C (p.Leu2060Phe)
c.5397G>C (p.Leu1799Phe)
c.6636G>C (p.Leu2212Phe)
c.6360G>C (p.Leu2120Phe)
c.6177G>C (p.Leu2059Phe)
c.5901G>C (p.Leu1967Phe)
c.5898G>C (p.Leu1966Phe)
c.5418G>C (p.Leu1806Phe)
c.5316G>C (p.Leu1772Phe)
c.5313G>C (p.Leu1771Phe)
c.4578G>C (p.Leu1526Phe)
c.4575G>C (p.Leu1525Phe)
c.4938G>C (p.Leu1646Phe)
c.4857G>C (p.Leu1619Phe)
c.4854G>C (p.Leu1618Phe)
c.4662G>C (p.Leu1554Phe)
dbSNP
12g.889175G=CA2011734367WNK1c.5400G= (p.Leu1800=)
c.6156G= (p.Leu2052=)
c.4179G= (p.Leu1393=)
c.2847G= (p.Leu949=)
c.6639G= (p.Leu2213=)
c.4659G= (p.Leu1553=)
c.6180G= (p.Leu2060=)
c.5397G= (p.Leu1799=)
c.6636G= (p.Leu2212=)
c.6360G= (p.Leu2120=)
c.6177G= (p.Leu2059=)
c.5901G= (p.Leu1967=)
c.5898G= (p.Leu1966=)
c.5418G= (p.Leu1806=)
c.5316G= (p.Leu1772=)
c.5313G= (p.Leu1771=)
c.4578G= (p.Leu1526=)
c.4575G= (p.Leu1525=)
c.4938G= (p.Leu1646=)
c.4857G= (p.Leu1619=)
c.4854G= (p.Leu1618=)
c.4662G= (p.Leu1554=)
12g.889175G>TCA383333247WNK1c.5400G>T (p.Leu1800Phe)
c.6156G>T (p.Leu2052Phe)
c.4179G>T (p.Leu1393Phe)
c.2847G>T (p.Leu949Phe)
c.6639G>T (p.Leu2213Phe)
c.4659G>T (p.Leu1553Phe)
c.6180G>T (p.Leu2060Phe)
c.5397G>T (p.Leu1799Phe)
c.6636G>T (p.Leu2212Phe)
c.6360G>T (p.Leu2120Phe)
c.6177G>T (p.Leu2059Phe)
c.5901G>T (p.Leu1967Phe)
c.5898G>T (p.Leu1966Phe)
c.5418G>T (p.Leu1806Phe)
c.5316G>T (p.Leu1772Phe)
c.5313G>T (p.Leu1771Phe)
c.4578G>T (p.Leu1526Phe)
c.4575G>T (p.Leu1525Phe)
c.4938G>T (p.Leu1646Phe)
c.4857G>T (p.Leu1619Phe)
c.4854G>T (p.Leu1618Phe)
c.4662G>T (p.Leu1554Phe)
12g.889176A>CCA477851783WNK1c.5401A>C (p.Arg1801=)
c.6157A>C (p.Arg2053=)
c.4180A>C (p.Arg1394=)
c.2848A>C (p.Arg950=)
c.6640A>C (p.Arg2214=)
c.4660A>C (p.Arg1554=)
c.6181A>C (p.Arg2061=)
c.5398A>C (p.Arg1800=)
c.6637A>C (p.Arg2213=)
c.6361A>C (p.Arg2121=)
c.6178A>C (p.Arg2060=)
c.5902A>C (p.Arg1968=)
c.5899A>C (p.Arg1967=)
c.5419A>C (p.Arg1807=)
c.5317A>C (p.Arg1773=)
c.5314A>C (p.Arg1772=)
c.4579A>C (p.Arg1527=)
c.4576A>C (p.Arg1526=)
c.4939A>C (p.Arg1647=)
c.4858A>C (p.Arg1620=)
c.4855A>C (p.Arg1619=)
c.4663A>C (p.Arg1555=)
12g.889176A>GCA383333248WNK1c.5401A>G (p.Arg1801Gly)
c.6157A>G (p.Arg2053Gly)
c.4180A>G (p.Arg1394Gly)
c.2848A>G (p.Arg950Gly)
c.6640A>G (p.Arg2214Gly)
c.4660A>G (p.Arg1554Gly)
c.6181A>G (p.Arg2061Gly)
c.5398A>G (p.Arg1800Gly)
c.6637A>G (p.Arg2213Gly)
c.6361A>G (p.Arg2121Gly)
c.6178A>G (p.Arg2060Gly)
c.5902A>G (p.Arg1968Gly)
c.5899A>G (p.Arg1967Gly)
c.5419A>G (p.Arg1807Gly)
c.5317A>G (p.Arg1773Gly)
c.5314A>G (p.Arg1772Gly)
c.4579A>G (p.Arg1527Gly)
c.4576A>G (p.Arg1526Gly)
c.4939A>G (p.Arg1647Gly)
c.4858A>G (p.Arg1620Gly)
c.4855A>G (p.Arg1619Gly)
c.4663A>G (p.Arg1555Gly)
12g.889176A>TCA383333249WNK1c.5401A>T (p.Arg1801Ter)
c.6157A>T (p.Arg2053Ter)
c.4180A>T (p.Arg1394Ter)
c.2848A>T (p.Arg950Ter)
c.6640A>T (p.Arg2214Ter)
c.4660A>T (p.Arg1554Ter)
c.6181A>T (p.Arg2061Ter)
c.5398A>T (p.Arg1800Ter)
c.6637A>T (p.Arg2213Ter)
c.6361A>T (p.Arg2121Ter)
c.6178A>T (p.Arg2060Ter)
c.5902A>T (p.Arg1968Ter)
c.5899A>T (p.Arg1967Ter)
c.5419A>T (p.Arg1807Ter)
c.5317A>T (p.Arg1773Ter)
c.5314A>T (p.Arg1772Ter)
c.4579A>T (p.Arg1527Ter)
c.4576A>T (p.Arg1526Ter)
c.4939A>T (p.Arg1647Ter)
c.4858A>T (p.Arg1620Ter)
c.4855A>T (p.Arg1619Ter)
c.4663A>T (p.Arg1555Ter)
12g.889177G>ACA383333251WNK1c.5402G>A (p.Arg1801Lys)
c.6158G>A (p.Arg2053Lys)
c.4181G>A (p.Arg1394Lys)
c.2849G>A (p.Arg950Lys)
c.6641G>A (p.Arg2214Lys)
c.4661G>A (p.Arg1554Lys)
c.6182G>A (p.Arg2061Lys)
c.5399G>A (p.Arg1800Lys)
c.6638G>A (p.Arg2213Lys)
c.6362G>A (p.Arg2121Lys)
c.6179G>A (p.Arg2060Lys)
c.5903G>A (p.Arg1968Lys)
c.5900G>A (p.Arg1967Lys)
c.5420G>A (p.Arg1807Lys)
c.5318G>A (p.Arg1773Lys)
c.5315G>A (p.Arg1772Lys)
c.4580G>A (p.Arg1527Lys)
c.4577G>A (p.Arg1526Lys)
c.4940G>A (p.Arg1647Lys)
c.4859G>A (p.Arg1620Lys)
c.4856G>A (p.Arg1619Lys)
c.4664G>A (p.Arg1555Lys)
12g.889177G>CCA383333252WNK1c.5402G>C (p.Arg1801Thr)
c.6158G>C (p.Arg2053Thr)
c.4181G>C (p.Arg1394Thr)
c.2849G>C (p.Arg950Thr)
c.6641G>C (p.Arg2214Thr)
c.4661G>C (p.Arg1554Thr)
c.6182G>C (p.Arg2061Thr)
c.5399G>C (p.Arg1800Thr)
c.6638G>C (p.Arg2213Thr)
c.6362G>C (p.Arg2121Thr)
c.6179G>C (p.Arg2060Thr)
c.5903G>C (p.Arg1968Thr)
c.5900G>C (p.Arg1967Thr)
c.5420G>C (p.Arg1807Thr)
c.5318G>C (p.Arg1773Thr)
c.5315G>C (p.Arg1772Thr)
c.4580G>C (p.Arg1527Thr)
c.4577G>C (p.Arg1526Thr)
c.4940G>C (p.Arg1647Thr)
c.4859G>C (p.Arg1620Thr)
c.4856G>C (p.Arg1619Thr)
c.4664G>C (p.Arg1555Thr)
12g.889177G=CA2011734370WNK1c.5402G= (p.Arg1801=)
c.6158G= (p.Arg2053=)
c.4181G= (p.Arg1394=)
c.2849G= (p.Arg950=)
c.6641G= (p.Arg2214=)
c.4661G= (p.Arg1554=)
c.6182G= (p.Arg2061=)
c.5399G= (p.Arg1800=)
c.6638G= (p.Arg2213=)
c.6362G= (p.Arg2121=)
c.6179G= (p.Arg2060=)
c.5903G= (p.Arg1968=)
c.5900G= (p.Arg1967=)
c.5420G= (p.Arg1807=)
c.5318G= (p.Arg1773=)
c.5315G= (p.Arg1772=)
c.4580G= (p.Arg1527=)
c.4577G= (p.Arg1526=)
c.4940G= (p.Arg1647=)
c.4859G= (p.Arg1620=)
c.4856G= (p.Arg1619=)
c.4664G= (p.Arg1555=)
12g.889177G>TCA383333250WNK1c.5402G>T (p.Arg1801Ile)
c.6158G>T (p.Arg2053Ile)
c.4181G>T (p.Arg1394Ile)
c.2849G>T (p.Arg950Ile)
c.6641G>T (p.Arg2214Ile)
c.4661G>T (p.Arg1554Ile)
c.6182G>T (p.Arg2061Ile)
c.5399G>T (p.Arg1800Ile)
c.6638G>T (p.Arg2213Ile)
c.6362G>T (p.Arg2121Ile)
c.6179G>T (p.Arg2060Ile)
c.5903G>T (p.Arg1968Ile)
c.5900G>T (p.Arg1967Ile)
c.5420G>T (p.Arg1807Ile)
c.5318G>T (p.Arg1773Ile)
c.5315G>T (p.Arg1772Ile)
c.4580G>T (p.Arg1527Ile)
c.4577G>T (p.Arg1526Ile)
c.4940G>T (p.Arg1647Ile)
c.4859G>T (p.Arg1620Ile)
c.4856G>T (p.Arg1619Ile)
c.4664G>T (p.Arg1555Ile)
dbSNP
12g.889178A>CCA383333254WNK1c.5403A>C (p.Arg1801Ser)
c.6159A>C (p.Arg2053Ser)
c.4182A>C (p.Arg1394Ser)
c.2850A>C (p.Arg950Ser)
c.6642A>C (p.Arg2214Ser)
c.4662A>C (p.Arg1554Ser)
c.6183A>C (p.Arg2061Ser)
c.5400A>C (p.Arg1800Ser)
c.6639A>C (p.Arg2213Ser)
c.6363A>C (p.Arg2121Ser)
c.6180A>C (p.Arg2060Ser)
c.5904A>C (p.Arg1968Ser)
c.5901A>C (p.Arg1967Ser)
c.5421A>C (p.Arg1807Ser)
c.5319A>C (p.Arg1773Ser)
c.5316A>C (p.Arg1772Ser)
c.4581A>C (p.Arg1527Ser)
c.4578A>C (p.Arg1526Ser)
c.4941A>C (p.Arg1647Ser)
c.4860A>C (p.Arg1620Ser)
c.4857A>C (p.Arg1619Ser)
c.4665A>C (p.Arg1555Ser)
12g.889178A>GCA477851784WNK1c.5403A>G (p.Arg1801=)
c.6159A>G (p.Arg2053=)
c.4182A>G (p.Arg1394=)
c.2850A>G (p.Arg950=)
c.6642A>G (p.Arg2214=)
c.4662A>G (p.Arg1554=)
c.6183A>G (p.Arg2061=)
c.5400A>G (p.Arg1800=)
c.6639A>G (p.Arg2213=)
c.6363A>G (p.Arg2121=)
c.6180A>G (p.Arg2060=)
c.5904A>G (p.Arg1968=)
c.5901A>G (p.Arg1967=)
c.5421A>G (p.Arg1807=)
c.5319A>G (p.Arg1773=)
c.5316A>G (p.Arg1772=)
c.4581A>G (p.Arg1527=)
c.4578A>G (p.Arg1526=)
c.4941A>G (p.Arg1647=)
c.4860A>G (p.Arg1620=)
c.4857A>G (p.Arg1619=)
c.4665A>G (p.Arg1555=)
12g.889178A>TCA383333253WNK1c.5403A>T (p.Arg1801Ser)
c.6159A>T (p.Arg2053Ser)
c.4182A>T (p.Arg1394Ser)
c.2850A>T (p.Arg950Ser)
c.6642A>T (p.Arg2214Ser)
c.4662A>T (p.Arg1554Ser)
c.6183A>T (p.Arg2061Ser)
c.5400A>T (p.Arg1800Ser)
c.6639A>T (p.Arg2213Ser)
c.6363A>T (p.Arg2121Ser)
c.6180A>T (p.Arg2060Ser)
c.5904A>T (p.Arg1968Ser)
c.5901A>T (p.Arg1967Ser)
c.5421A>T (p.Arg1807Ser)
c.5319A>T (p.Arg1773Ser)
c.5316A>T (p.Arg1772Ser)
c.4581A>T (p.Arg1527Ser)
c.4578A>T (p.Arg1526Ser)
c.4941A>T (p.Arg1647Ser)
c.4860A>T (p.Arg1620Ser)
c.4857A>T (p.Arg1619Ser)
c.4665A>T (p.Arg1555Ser)
12g.889179A=CA2011734372WNK1c.5404A= (p.Arg1802=)
c.6160A= (p.Arg2054=)
c.4183A= (p.Arg1395=)
c.2851A= (p.Arg951=)
c.6643A= (p.Arg2215=)
c.4663A= (p.Arg1555=)
c.6184A= (p.Arg2062=)
c.5401A= (p.Arg1801=)
c.6640A= (p.Arg2214=)
c.6364A= (p.Arg2122=)
c.6181A= (p.Arg2061=)
c.5905A= (p.Arg1969=)
c.5902A= (p.Arg1968=)
c.5422A= (p.Arg1808=)
c.5320A= (p.Arg1774=)
c.5317A= (p.Arg1773=)
c.4582A= (p.Arg1528=)
c.4579A= (p.Arg1527=)
c.4942A= (p.Arg1648=)
c.4861A= (p.Arg1621=)
c.4858A= (p.Arg1620=)
c.4666A= (p.Arg1556=)
12g.889179A>CCA477851785WNK1c.5404A>C (p.Arg1802=)
c.6160A>C (p.Arg2054=)
c.4183A>C (p.Arg1395=)
c.2851A>C (p.Arg951=)
c.6643A>C (p.Arg2215=)
c.4663A>C (p.Arg1555=)
c.6184A>C (p.Arg2062=)
c.5401A>C (p.Arg1801=)
c.6640A>C (p.Arg2214=)
c.6364A>C (p.Arg2122=)
c.6181A>C (p.Arg2061=)
c.5905A>C (p.Arg1969=)
c.5902A>C (p.Arg1968=)
c.5422A>C (p.Arg1808=)
c.5320A>C (p.Arg1774=)
c.5317A>C (p.Arg1773=)
c.4582A>C (p.Arg1528=)
c.4579A>C (p.Arg1527=)
c.4942A>C (p.Arg1648=)
c.4861A>C (p.Arg1621=)
c.4858A>C (p.Arg1620=)
c.4666A>C (p.Arg1556=)
12g.889179A>GCA383333255WNK1c.5404A>G (p.Arg1802Gly)
c.6160A>G (p.Arg2054Gly)
c.4183A>G (p.Arg1395Gly)
c.2851A>G (p.Arg951Gly)
c.6643A>G (p.Arg2215Gly)
c.4663A>G (p.Arg1555Gly)
c.6184A>G (p.Arg2062Gly)
c.5401A>G (p.Arg1801Gly)
c.6640A>G (p.Arg2214Gly)
c.6364A>G (p.Arg2122Gly)
c.6181A>G (p.Arg2061Gly)
c.5905A>G (p.Arg1969Gly)
c.5902A>G (p.Arg1968Gly)
c.5422A>G (p.Arg1808Gly)
c.5320A>G (p.Arg1774Gly)
c.5317A>G (p.Arg1773Gly)
c.4582A>G (p.Arg1528Gly)
c.4579A>G (p.Arg1527Gly)
c.4942A>G (p.Arg1648Gly)
c.4861A>G (p.Arg1621Gly)
c.4858A>G (p.Arg1620Gly)
c.4666A>G (p.Arg1556Gly)
dbSNP
12g.889179A>TCA383333256WNK1c.5404A>T (p.Arg1802Ter)
c.6160A>T (p.Arg2054Ter)
c.4183A>T (p.Arg1395Ter)
c.2851A>T (p.Arg951Ter)
c.6643A>T (p.Arg2215Ter)
c.4663A>T (p.Arg1555Ter)
c.6184A>T (p.Arg2062Ter)
c.5401A>T (p.Arg1801Ter)
c.6640A>T (p.Arg2214Ter)
c.6364A>T (p.Arg2122Ter)
c.6181A>T (p.Arg2061Ter)
c.5905A>T (p.Arg1969Ter)
c.5902A>T (p.Arg1968Ter)
c.5422A>T (p.Arg1808Ter)
c.5320A>T (p.Arg1774Ter)
c.5317A>T (p.Arg1773Ter)
c.4582A>T (p.Arg1528Ter)
c.4579A>T (p.Arg1527Ter)
c.4942A>T (p.Arg1648Ter)
c.4861A>T (p.Arg1621Ter)
c.4858A>T (p.Arg1620Ter)
c.4666A>T (p.Arg1556Ter)
12g.889180G>ACA383333257WNK1c.5405G>A (p.Arg1802Lys)
c.6161G>A (p.Arg2054Lys)
c.4184G>A (p.Arg1395Lys)
c.2852G>A (p.Arg951Lys)
c.6644G>A (p.Arg2215Lys)
c.4664G>A (p.Arg1555Lys)
c.6185G>A (p.Arg2062Lys)
c.5402G>A (p.Arg1801Lys)
c.6641G>A (p.Arg2214Lys)
c.6365G>A (p.Arg2122Lys)
c.6182G>A (p.Arg2061Lys)
c.5906G>A (p.Arg1969Lys)
c.5903G>A (p.Arg1968Lys)
c.5423G>A (p.Arg1808Lys)
c.5321G>A (p.Arg1774Lys)
c.5318G>A (p.Arg1773Lys)
c.4583G>A (p.Arg1528Lys)
c.4580G>A (p.Arg1527Lys)
c.4943G>A (p.Arg1648Lys)
c.4862G>A (p.Arg1621Lys)
c.4859G>A (p.Arg1620Lys)
c.4667G>A (p.Arg1556Lys)
12g.889180G>CCA383333258WNK1c.5405G>C (p.Arg1802Thr)
c.6161G>C (p.Arg2054Thr)
c.4184G>C (p.Arg1395Thr)
c.2852G>C (p.Arg951Thr)
c.6644G>C (p.Arg2215Thr)
c.4664G>C (p.Arg1555Thr)
c.6185G>C (p.Arg2062Thr)
c.5402G>C (p.Arg1801Thr)
c.6641G>C (p.Arg2214Thr)
c.6365G>C (p.Arg2122Thr)
c.6182G>C (p.Arg2061Thr)
c.5906G>C (p.Arg1969Thr)
c.5903G>C (p.Arg1968Thr)
c.5423G>C (p.Arg1808Thr)
c.5321G>C (p.Arg1774Thr)
c.5318G>C (p.Arg1773Thr)
c.4583G>C (p.Arg1528Thr)
c.4580G>C (p.Arg1527Thr)
c.4943G>C (p.Arg1648Thr)
c.4862G>C (p.Arg1621Thr)
c.4859G>C (p.Arg1620Thr)
c.4667G>C (p.Arg1556Thr)
12g.889180G>TCA383333259WNK1c.5405G>T (p.Arg1802Ile)
c.6161G>T (p.Arg2054Ile)
c.4184G>T (p.Arg1395Ile)
c.2852G>T (p.Arg951Ile)
c.6644G>T (p.Arg2215Ile)
c.4664G>T (p.Arg1555Ile)
c.6185G>T (p.Arg2062Ile)
c.5402G>T (p.Arg1801Ile)
c.6641G>T (p.Arg2214Ile)
c.6365G>T (p.Arg2122Ile)
c.6182G>T (p.Arg2061Ile)
c.5906G>T (p.Arg1969Ile)
c.5903G>T (p.Arg1968Ile)
c.5423G>T (p.Arg1808Ile)
c.5321G>T (p.Arg1774Ile)
c.5318G>T (p.Arg1773Ile)
c.4583G>T (p.Arg1528Ile)
c.4580G>T (p.Arg1527Ile)
c.4943G>T (p.Arg1648Ile)
c.4862G>T (p.Arg1621Ile)
c.4859G>T (p.Arg1620Ile)
c.4667G>T (p.Arg1556Ile)
12g.889180_889181insTCTTCA2569838557WNK1c.5405_5406insTCTT (p.Arg1802SerfsTer5)
c.6161_6162insTCTT (p.Arg2054SerfsTer5)
c.4184_4185insTCTT (p.Arg1395SerfsTer5)
c.2852_2853insTCTT (p.Arg951SerfsTer5)
c.6644_6645insTCTT (p.Arg2215SerfsTer5)
c.4664_4665insTCTT (p.Arg1555SerfsTer5)
c.6185_6186insTCTT (p.Arg2062SerfsTer5)
c.5402_5403insTCTT (p.Arg1801SerfsTer5)
c.6641_6642insTCTT (p.Arg2214SerfsTer5)
c.6365_6366insTCTT (p.Arg2122SerfsTer5)
c.6182_6183insTCTT (p.Arg2061SerfsTer5)
c.5906_5907insTCTT (p.Arg1969SerfsTer5)
c.5903_5904insTCTT (p.Arg1968SerfsTer5)
c.5423_5424insTCTT (p.Arg1808SerfsTer5)
c.5321_5322insTCTT (p.Arg1774SerfsTer5)
c.5318_5319insTCTT (p.Arg1773SerfsTer5)
c.4583_4584insTCTT (p.Arg1528SerfsTer5)
c.4580_4581insTCTT (p.Arg1527SerfsTer5)
c.4943_4944insTCTT (p.Arg1648SerfsTer5)
c.4862_4863insTCTT (p.Arg1621SerfsTer5)
c.4859_4860insTCTT (p.Arg1620SerfsTer5)
c.4667_4668insTCTT (p.Arg1556SerfsTer5)
12g.889181A>CCA383333260WNK1c.5406A>C (p.Arg1802Ser)
c.6162A>C (p.Arg2054Ser)
c.4185A>C (p.Arg1395Ser)
c.2853A>C (p.Arg951Ser)
c.6645A>C (p.Arg2215Ser)
c.4665A>C (p.Arg1555Ser)
c.6186A>C (p.Arg2062Ser)
c.5403A>C (p.Arg1801Ser)
c.6642A>C (p.Arg2214Ser)
c.6366A>C (p.Arg2122Ser)
c.6183A>C (p.Arg2061Ser)
c.5907A>C (p.Arg1969Ser)
c.5904A>C (p.Arg1968Ser)
c.5424A>C (p.Arg1808Ser)
c.5322A>C (p.Arg1774Ser)
c.5319A>C (p.Arg1773Ser)
c.4584A>C (p.Arg1528Ser)
c.4581A>C (p.Arg1527Ser)
c.4944A>C (p.Arg1648Ser)
c.4863A>C (p.Arg1621Ser)
c.4860A>C (p.Arg1620Ser)
c.4668A>C (p.Arg1556Ser)
12g.889181A>GCA477851788WNK1c.5406A>G (p.Arg1802=)
c.6162A>G (p.Arg2054=)
c.4185A>G (p.Arg1395=)
c.2853A>G (p.Arg951=)
c.6645A>G (p.Arg2215=)
c.4665A>G (p.Arg1555=)
c.6186A>G (p.Arg2062=)
c.5403A>G (p.Arg1801=)
c.6642A>G (p.Arg2214=)
c.6366A>G (p.Arg2122=)
c.6183A>G (p.Arg2061=)
c.5907A>G (p.Arg1969=)
c.5904A>G (p.Arg1968=)
c.5424A>G (p.Arg1808=)
c.5322A>G (p.Arg1774=)
c.5319A>G (p.Arg1773=)
c.4584A>G (p.Arg1528=)
c.4581A>G (p.Arg1527=)
c.4944A>G (p.Arg1648=)
c.4863A>G (p.Arg1621=)
c.4860A>G (p.Arg1620=)
c.4668A>G (p.Arg1556=)
12g.889181A>TCA383333261WNK1c.5406A>T (p.Arg1802Ser)
c.6162A>T (p.Arg2054Ser)
c.4185A>T (p.Arg1395Ser)
c.2853A>T (p.Arg951Ser)
c.6645A>T (p.Arg2215Ser)
c.4665A>T (p.Arg1555Ser)
c.6186A>T (p.Arg2062Ser)
c.5403A>T (p.Arg1801Ser)
c.6642A>T (p.Arg2214Ser)
c.6366A>T (p.Arg2122Ser)
c.6183A>T (p.Arg2061Ser)
c.5907A>T (p.Arg1969Ser)
c.5904A>T (p.Arg1968Ser)
c.5424A>T (p.Arg1808Ser)
c.5322A>T (p.Arg1774Ser)
c.5319A>T (p.Arg1773Ser)
c.4584A>T (p.Arg1528Ser)
c.4581A>T (p.Arg1527Ser)
c.4944A>T (p.Arg1648Ser)
c.4863A>T (p.Arg1621Ser)
c.4860A>T (p.Arg1620Ser)
c.4668A>T (p.Arg1556Ser)
12g.889182_889184delCA2514868657WNK1c.5407_5409del (p.Thr1803del)
c.6163_6165del (p.Thr2055del)
c.4186_4188del (p.Thr1396del)
c.2854_2856del (p.Thr952del)
c.6646_6648del (p.Thr2216del)
c.4666_4668del (p.Thr1556del)
c.6187_6189del (p.Thr2063del)
c.5404_5406del (p.Thr1802del)
c.6643_6645del (p.Thr2215del)
c.6367_6369del (p.Thr2123del)
c.6184_6186del (p.Thr2062del)
c.5908_5910del (p.Thr1970del)
c.5905_5907del (p.Thr1969del)
c.5425_5427del (p.Thr1809del)
c.5323_5325del (p.Thr1775del)
c.5320_5322del (p.Thr1774del)
c.4585_4587del (p.Thr1529del)
c.4582_4584del (p.Thr1528del)
c.4945_4947del (p.Thr1649del)
c.4864_4866del (p.Thr1622del)
c.4861_4863del (p.Thr1621del)
c.4669_4671del (p.Thr1557del)
12g.889181_889182insTTACATTCTATGTTTGATGTTCA2568840204WNK1c.5406_5407insTTACATTCTATGTTTGATGTT (p.Arg1802_Thr1803insLeuHisSerMetPheAspVal)
c.6162_6163insTTACATTCTATGTTTGATGTT (p.Arg2054_Thr2055insLeuHisSerMetPheAspVal)
c.4185_4186insTTACATTCTATGTTTGATGTT (p.Arg1395_Thr1396insLeuHisSerMetPheAspVal)
c.2853_2854insTTACATTCTATGTTTGATGTT (p.Arg951_Thr952insLeuHisSerMetPheAspVal)
c.6645_6646insTTACATTCTATGTTTGATGTT (p.Arg2215_Thr2216insLeuHisSerMetPheAspVal)
c.4665_4666insTTACATTCTATGTTTGATGTT (p.Arg1555_Thr1556insLeuHisSerMetPheAspVal)
c.6186_6187insTTACATTCTATGTTTGATGTT (p.Arg2062_Thr2063insLeuHisSerMetPheAspVal)
c.5403_5404insTTACATTCTATGTTTGATGTT (p.Arg1801_Thr1802insLeuHisSerMetPheAspVal)
c.6642_6643insTTACATTCTATGTTTGATGTT (p.Arg2214_Thr2215insLeuHisSerMetPheAspVal)
c.6366_6367insTTACATTCTATGTTTGATGTT (p.Arg2122_Thr2123insLeuHisSerMetPheAspVal)
c.6183_6184insTTACATTCTATGTTTGATGTT (p.Arg2061_Thr2062insLeuHisSerMetPheAspVal)
c.5907_5908insTTACATTCTATGTTTGATGTT (p.Arg1969_Thr1970insLeuHisSerMetPheAspVal)
c.5904_5905insTTACATTCTATGTTTGATGTT (p.Arg1968_Thr1969insLeuHisSerMetPheAspVal)
c.5424_5425insTTACATTCTATGTTTGATGTT (p.Arg1808_Thr1809insLeuHisSerMetPheAspVal)
c.5322_5323insTTACATTCTATGTTTGATGTT (p.Arg1774_Thr1775insLeuHisSerMetPheAspVal)
c.5319_5320insTTACATTCTATGTTTGATGTT (p.Arg1773_Thr1774insLeuHisSerMetPheAspVal)
c.4584_4585insTTACATTCTATGTTTGATGTT (p.Arg1528_Thr1529insLeuHisSerMetPheAspVal)
c.4581_4582insTTACATTCTATGTTTGATGTT (p.Arg1527_Thr1528insLeuHisSerMetPheAspVal)
c.4944_4945insTTACATTCTATGTTTGATGTT (p.Arg1648_Thr1649insLeuHisSerMetPheAspVal)
c.4863_4864insTTACATTCTATGTTTGATGTT (p.Arg1621_Thr1622insLeuHisSerMetPheAspVal)
c.4860_4861insTTACATTCTATGTTTGATGTT (p.Arg1620_Thr1621insLeuHisSerMetPheAspVal)
c.4668_4669insTTACATTCTATGTTTGATGTT (p.Arg1556_Thr1557insLeuHisSerMetPheAspVal)
12g.889182A=CA2011734377WNK1c.5407A= (p.Thr1803=)
c.6163A= (p.Thr2055=)
c.4186A= (p.Thr1396=)
c.2854A= (p.Thr952=)
c.6646A= (p.Thr2216=)
c.4666A= (p.Thr1556=)
c.6187A= (p.Thr2063=)
c.5404A= (p.Thr1802=)
c.6643A= (p.Thr2215=)
c.6367A= (p.Thr2123=)
c.6184A= (p.Thr2062=)
c.5908A= (p.Thr1970=)
c.5905A= (p.Thr1969=)
c.5425A= (p.Thr1809=)
c.5323A= (p.Thr1775=)
c.5320A= (p.Thr1774=)
c.4585A= (p.Thr1529=)
c.4582A= (p.Thr1528=)
c.4945A= (p.Thr1649=)
c.4864A= (p.Thr1622=)
c.4861A= (p.Thr1621=)
c.4669A= (p.Thr1557=)
12g.889182A>CCA383333262WNK1c.5407A>C (p.Thr1803Pro)
c.6163A>C (p.Thr2055Pro)
c.4186A>C (p.Thr1396Pro)
c.2854A>C (p.Thr952Pro)
c.6646A>C (p.Thr2216Pro)
c.4666A>C (p.Thr1556Pro)
c.6187A>C (p.Thr2063Pro)
c.5404A>C (p.Thr1802Pro)
c.6643A>C (p.Thr2215Pro)
c.6367A>C (p.Thr2123Pro)
c.6184A>C (p.Thr2062Pro)
c.5908A>C (p.Thr1970Pro)
c.5905A>C (p.Thr1969Pro)
c.5425A>C (p.Thr1809Pro)
c.5323A>C (p.Thr1775Pro)
c.5320A>C (p.Thr1774Pro)
c.4585A>C (p.Thr1529Pro)
c.4582A>C (p.Thr1528Pro)
c.4945A>C (p.Thr1649Pro)
c.4864A>C (p.Thr1622Pro)
c.4861A>C (p.Thr1621Pro)
c.4669A>C (p.Thr1557Pro)
12g.889182A>GCA6383162WNK1c.5407A>G (p.Thr1803Ala)
c.6163A>G (p.Thr2055Ala)
c.4186A>G (p.Thr1396Ala)
c.2854A>G (p.Thr952Ala)
c.6646A>G (p.Thr2216Ala)
c.4666A>G (p.Thr1556Ala)
c.6187A>G (p.Thr2063Ala)
c.5404A>G (p.Thr1802Ala)
c.6643A>G (p.Thr2215Ala)
c.6367A>G (p.Thr2123Ala)
c.6184A>G (p.Thr2062Ala)
c.5908A>G (p.Thr1970Ala)
c.5905A>G (p.Thr1969Ala)
c.5425A>G (p.Thr1809Ala)
c.5323A>G (p.Thr1775Ala)
c.5320A>G (p.Thr1774Ala)
c.4585A>G (p.Thr1529Ala)
c.4582A>G (p.Thr1528Ala)
c.4945A>G (p.Thr1649Ala)
c.4864A>G (p.Thr1622Ala)
c.4861A>G (p.Thr1621Ala)
c.4669A>G (p.Thr1557Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.889182A>TCA383333263WNK1c.5407A>T (p.Thr1803Ser)
c.6163A>T (p.Thr2055Ser)
c.4186A>T (p.Thr1396Ser)
c.2854A>T (p.Thr952Ser)
c.6646A>T (p.Thr2216Ser)
c.4666A>T (p.Thr1556Ser)
c.6187A>T (p.Thr2063Ser)
c.5404A>T (p.Thr1802Ser)
c.6643A>T (p.Thr2215Ser)
c.6367A>T (p.Thr2123Ser)
c.6184A>T (p.Thr2062Ser)
c.5908A>T (p.Thr1970Ser)
c.5905A>T (p.Thr1969Ser)
c.5425A>T (p.Thr1809Ser)
c.5323A>T (p.Thr1775Ser)
c.5320A>T (p.Thr1774Ser)
c.4585A>T (p.Thr1529Ser)
c.4582A>T (p.Thr1528Ser)
c.4945A>T (p.Thr1649Ser)
c.4864A>T (p.Thr1622Ser)
c.4861A>T (p.Thr1621Ser)
c.4669A>T (p.Thr1557Ser)
12g.889183C>ACA383333264WNK1c.5408C>A (p.Thr1803Lys)
c.6164C>A (p.Thr2055Lys)
c.4187C>A (p.Thr1396Lys)
c.2855C>A (p.Thr952Lys)
c.6647C>A (p.Thr2216Lys)
c.4667C>A (p.Thr1556Lys)
c.6188C>A (p.Thr2063Lys)
c.5405C>A (p.Thr1802Lys)
c.6644C>A (p.Thr2215Lys)
c.6368C>A (p.Thr2123Lys)
c.6185C>A (p.Thr2062Lys)
c.5909C>A (p.Thr1970Lys)
c.5906C>A (p.Thr1969Lys)
c.5426C>A (p.Thr1809Lys)
c.5324C>A (p.Thr1775Lys)
c.5321C>A (p.Thr1774Lys)
c.4586C>A (p.Thr1529Lys)
c.4583C>A (p.Thr1528Lys)
c.4946C>A (p.Thr1649Lys)
c.4865C>A (p.Thr1622Lys)
c.4862C>A (p.Thr1621Lys)
c.4670C>A (p.Thr1557Lys)
12g.889183C=CA2011734379WNK1c.5408C= (p.Thr1803=)
c.6164C= (p.Thr2055=)
c.4187C= (p.Thr1396=)
c.2855C= (p.Thr952=)
c.6647C= (p.Thr2216=)
c.4667C= (p.Thr1556=)
c.6188C= (p.Thr2063=)
c.5405C= (p.Thr1802=)
c.6644C= (p.Thr2215=)
c.6368C= (p.Thr2123=)
c.6185C= (p.Thr2062=)
c.5909C= (p.Thr1970=)
c.5906C= (p.Thr1969=)
c.5426C= (p.Thr1809=)
c.5324C= (p.Thr1775=)
c.5321C= (p.Thr1774=)
c.4586C= (p.Thr1529=)
c.4583C= (p.Thr1528=)
c.4946C= (p.Thr1649=)
c.4865C= (p.Thr1622=)
c.4862C= (p.Thr1621=)
c.4670C= (p.Thr1557=)
12g.889183C>GCA383333265WNK1c.5408C>G (p.Thr1803Arg)
c.6164C>G (p.Thr2055Arg)
c.4187C>G (p.Thr1396Arg)
c.2855C>G (p.Thr952Arg)
c.6647C>G (p.Thr2216Arg)
c.4667C>G (p.Thr1556Arg)
c.6188C>G (p.Thr2063Arg)
c.5405C>G (p.Thr1802Arg)
c.6644C>G (p.Thr2215Arg)
c.6368C>G (p.Thr2123Arg)
c.6185C>G (p.Thr2062Arg)
c.5909C>G (p.Thr1970Arg)
c.5906C>G (p.Thr1969Arg)
c.5426C>G (p.Thr1809Arg)
c.5324C>G (p.Thr1775Arg)
c.5321C>G (p.Thr1774Arg)
c.4586C>G (p.Thr1529Arg)
c.4583C>G (p.Thr1528Arg)
c.4946C>G (p.Thr1649Arg)
c.4865C>G (p.Thr1622Arg)
c.4862C>G (p.Thr1621Arg)
c.4670C>G (p.Thr1557Arg)
dbSNP gnomAD v2
12g.889183C>TCA383333266WNK1c.5408C>T (p.Thr1803Ile)
c.6164C>T (p.Thr2055Ile)
c.4187C>T (p.Thr1396Ile)
c.2855C>T (p.Thr952Ile)
c.6647C>T (p.Thr2216Ile)
c.4667C>T (p.Thr1556Ile)
c.6188C>T (p.Thr2063Ile)
c.5405C>T (p.Thr1802Ile)
c.6644C>T (p.Thr2215Ile)
c.6368C>T (p.Thr2123Ile)
c.6185C>T (p.Thr2062Ile)
c.5909C>T (p.Thr1970Ile)
c.5906C>T (p.Thr1969Ile)
c.5426C>T (p.Thr1809Ile)
c.5324C>T (p.Thr1775Ile)
c.5321C>T (p.Thr1774Ile)
c.4586C>T (p.Thr1529Ile)
c.4583C>T (p.Thr1528Ile)
c.4946C>T (p.Thr1649Ile)
c.4865C>T (p.Thr1622Ile)
c.4862C>T (p.Thr1621Ile)
c.4670C>T (p.Thr1557Ile)
12g.889184A=CA2011734382WNK1c.5409A= (p.Thr1803=)
c.6165A= (p.Thr2055=)
c.4188A= (p.Thr1396=)
c.2856A= (p.Thr952=)
c.6648A= (p.Thr2216=)
c.4668A= (p.Thr1556=)
c.6189A= (p.Thr2063=)
c.5406A= (p.Thr1802=)
c.6645A= (p.Thr2215=)
c.6369A= (p.Thr2123=)
c.6186A= (p.Thr2062=)
c.5910A= (p.Thr1970=)
c.5907A= (p.Thr1969=)
c.5427A= (p.Thr1809=)
c.5325A= (p.Thr1775=)
c.5322A= (p.Thr1774=)
c.4587A= (p.Thr1529=)
c.4584A= (p.Thr1528=)
c.4947A= (p.Thr1649=)
c.4866A= (p.Thr1622=)
c.4863A= (p.Thr1621=)
c.4671A= (p.Thr1557=)
12g.889184A>CCA6383164WNK1c.5409A>C (p.Thr1803=)
c.6165A>C (p.Thr2055=)
c.4188A>C (p.Thr1396=)
c.2856A>C (p.Thr952=)
c.6648A>C (p.Thr2216=)
c.4668A>C (p.Thr1556=)
c.6189A>C (p.Thr2063=)
c.5406A>C (p.Thr1802=)
c.6645A>C (p.Thr2215=)
c.6369A>C (p.Thr2123=)
c.6186A>C (p.Thr2062=)
c.5910A>C (p.Thr1970=)
c.5907A>C (p.Thr1969=)
c.5427A>C (p.Thr1809=)
c.5325A>C (p.Thr1775=)
c.5322A>C (p.Thr1774=)
c.4587A>C (p.Thr1529=)
c.4584A>C (p.Thr1528=)
c.4947A>C (p.Thr1649=)
c.4866A>C (p.Thr1622=)
c.4863A>C (p.Thr1621=)
c.4671A>C (p.Thr1557=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.889184A>GCA6383163WNK1c.5409A>G (p.Thr1803=)
c.6165A>G (p.Thr2055=)
c.4188A>G (p.Thr1396=)
c.2856A>G (p.Thr952=)
c.6648A>G (p.Thr2216=)
c.4668A>G (p.Thr1556=)
c.6189A>G (p.Thr2063=)
c.5406A>G (p.Thr1802=)
c.6645A>G (p.Thr2215=)
c.6369A>G (p.Thr2123=)
c.6186A>G (p.Thr2062=)
c.5910A>G (p.Thr1970=)
c.5907A>G (p.Thr1969=)
c.5427A>G (p.Thr1809=)
c.5325A>G (p.Thr1775=)
c.5322A>G (p.Thr1774=)
c.4587A>G (p.Thr1529=)
c.4584A>G (p.Thr1528=)
c.4947A>G (p.Thr1649=)
c.4866A>G (p.Thr1622=)
c.4863A>G (p.Thr1621=)
c.4671A>G (p.Thr1557=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.889184A>TCA477851789WNK1c.5409A>T (p.Thr1803=)
c.6165A>T (p.Thr2055=)
c.4188A>T (p.Thr1396=)
c.2856A>T (p.Thr952=)
c.6648A>T (p.Thr2216=)
c.4668A>T (p.Thr1556=)
c.6189A>T (p.Thr2063=)
c.5406A>T (p.Thr1802=)
c.6645A>T (p.Thr2215=)
c.6369A>T (p.Thr2123=)
c.6186A>T (p.Thr2062=)
c.5910A>T (p.Thr1970=)
c.5907A>T (p.Thr1969=)
c.5427A>T (p.Thr1809=)
c.5325A>T (p.Thr1775=)
c.5322A>T (p.Thr1774=)
c.4587A>T (p.Thr1529=)
c.4584A>T (p.Thr1528=)
c.4947A>T (p.Thr1649=)
c.4866A>T (p.Thr1622=)
c.4863A>T (p.Thr1621=)
c.4671A>T (p.Thr1557=)
gnomAD v4
12g.889185C>ACA383333267WNK1c.5410C>A (p.Leu1804Ile)
c.6166C>A (p.Leu2056Ile)
c.4189C>A (p.Leu1397Ile)
c.2857C>A (p.Leu953Ile)
c.6649C>A (p.Leu2217Ile)
c.4669C>A (p.Leu1557Ile)
c.6190C>A (p.Leu2064Ile)
c.5407C>A (p.Leu1803Ile)
c.6646C>A (p.Leu2216Ile)
c.6370C>A (p.Leu2124Ile)
c.6187C>A (p.Leu2063Ile)
c.5911C>A (p.Leu1971Ile)
c.5908C>A (p.Leu1970Ile)
c.5428C>A (p.Leu1810Ile)
c.5326C>A (p.Leu1776Ile)
c.5323C>A (p.Leu1775Ile)
c.4588C>A (p.Leu1530Ile)
c.4585C>A (p.Leu1529Ile)
c.4948C>A (p.Leu1650Ile)
c.4867C>A (p.Leu1623Ile)
c.4864C>A (p.Leu1622Ile)
c.4672C>A (p.Leu1558Ile)
12g.889185C=CA2011734390WNK1c.5410C= (p.Leu1804=)
c.6166C= (p.Leu2056=)
c.4189C= (p.Leu1397=)
c.2857C= (p.Leu953=)
c.6649C= (p.Leu2217=)
c.4669C= (p.Leu1557=)
c.6190C= (p.Leu2064=)
c.5407C= (p.Leu1803=)
c.6646C= (p.Leu2216=)
c.6370C= (p.Leu2124=)
c.6187C= (p.Leu2063=)
c.5911C= (p.Leu1971=)
c.5908C= (p.Leu1970=)
c.5428C= (p.Leu1810=)
c.5326C= (p.Leu1776=)
c.5323C= (p.Leu1775=)
c.4588C= (p.Leu1530=)
c.4585C= (p.Leu1529=)
c.4948C= (p.Leu1650=)
c.4867C= (p.Leu1623=)
c.4864C= (p.Leu1622=)
c.4672C= (p.Leu1558=)
12g.889185C>GCA6383165WNK1c.5410C>G (p.Leu1804Val)
c.6166C>G (p.Leu2056Val)
c.4189C>G (p.Leu1397Val)
c.2857C>G (p.Leu953Val)
c.6649C>G (p.Leu2217Val)
c.4669C>G (p.Leu1557Val)
c.6190C>G (p.Leu2064Val)
c.5407C>G (p.Leu1803Val)
c.6646C>G (p.Leu2216Val)
c.6370C>G (p.Leu2124Val)
c.6187C>G (p.Leu2063Val)
c.5911C>G (p.Leu1971Val)
c.5908C>G (p.Leu1970Val)
c.5428C>G (p.Leu1810Val)
c.5326C>G (p.Leu1776Val)
c.5323C>G (p.Leu1775Val)
c.4588C>G (p.Leu1530Val)
c.4585C>G (p.Leu1529Val)
c.4948C>G (p.Leu1650Val)
c.4867C>G (p.Leu1623Val)
c.4864C>G (p.Leu1622Val)
c.4672C>G (p.Leu1558Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.889185C>TCA383333268WNK1c.5410C>T (p.Leu1804Phe)
c.6166C>T (p.Leu2056Phe)
c.4189C>T (p.Leu1397Phe)
c.2857C>T (p.Leu953Phe)
c.6649C>T (p.Leu2217Phe)
c.4669C>T (p.Leu1557Phe)
c.6190C>T (p.Leu2064Phe)
c.5407C>T (p.Leu1803Phe)
c.6646C>T (p.Leu2216Phe)
c.6370C>T (p.Leu2124Phe)
c.6187C>T (p.Leu2063Phe)
c.5911C>T (p.Leu1971Phe)
c.5908C>T (p.Leu1970Phe)
c.5428C>T (p.Leu1810Phe)
c.5326C>T (p.Leu1776Phe)
c.5323C>T (p.Leu1775Phe)
c.4588C>T (p.Leu1530Phe)
c.4585C>T (p.Leu1529Phe)
c.4948C>T (p.Leu1650Phe)
c.4867C>T (p.Leu1623Phe)
c.4864C>T (p.Leu1622Phe)
c.4672C>T (p.Leu1558Phe)
12g.889186T>ACA383333269WNK1c.5411T>A (p.Leu1804His)
c.6167T>A (p.Leu2056His)
c.4190T>A (p.Leu1397His)
c.2858T>A (p.Leu953His)
c.6650T>A (p.Leu2217His)
c.4670T>A (p.Leu1557His)
c.6191T>A (p.Leu2064His)
c.5408T>A (p.Leu1803His)
c.6647T>A (p.Leu2216His)
c.6371T>A (p.Leu2124His)
c.6188T>A (p.Leu2063His)
c.5912T>A (p.Leu1971His)
c.5909T>A (p.Leu1970His)
c.5429T>A (p.Leu1810His)
c.5327T>A (p.Leu1776His)
c.5324T>A (p.Leu1775His)
c.4589T>A (p.Leu1530His)
c.4586T>A (p.Leu1529His)
c.4949T>A (p.Leu1650His)
c.4868T>A (p.Leu1623His)
c.4865T>A (p.Leu1622His)
c.4673T>A (p.Leu1558His)
12g.889186T>CCA383333270WNK1c.5411T>C (p.Leu1804Pro)
c.6167T>C (p.Leu2056Pro)
c.4190T>C (p.Leu1397Pro)
c.2858T>C (p.Leu953Pro)
c.6650T>C (p.Leu2217Pro)
c.4670T>C (p.Leu1557Pro)
c.6191T>C (p.Leu2064Pro)
c.5408T>C (p.Leu1803Pro)
c.6647T>C (p.Leu2216Pro)
c.6371T>C (p.Leu2124Pro)
c.6188T>C (p.Leu2063Pro)
c.5912T>C (p.Leu1971Pro)
c.5909T>C (p.Leu1970Pro)
c.5429T>C (p.Leu1810Pro)
c.5327T>C (p.Leu1776Pro)
c.5324T>C (p.Leu1775Pro)
c.4589T>C (p.Leu1530Pro)
c.4586T>C (p.Leu1529Pro)
c.4949T>C (p.Leu1650Pro)
c.4868T>C (p.Leu1623Pro)
c.4865T>C (p.Leu1622Pro)
c.4673T>C (p.Leu1558Pro)
12g.889186T>GCA383333271WNK1c.5411T>G (p.Leu1804Arg)
c.6167T>G (p.Leu2056Arg)
c.4190T>G (p.Leu1397Arg)
c.2858T>G (p.Leu953Arg)
c.6650T>G (p.Leu2217Arg)
c.4670T>G (p.Leu1557Arg)
c.6191T>G (p.Leu2064Arg)
c.5408T>G (p.Leu1803Arg)
c.6647T>G (p.Leu2216Arg)
c.6371T>G (p.Leu2124Arg)
c.6188T>G (p.Leu2063Arg)
c.5912T>G (p.Leu1971Arg)
c.5909T>G (p.Leu1970Arg)
c.5429T>G (p.Leu1810Arg)
c.5327T>G (p.Leu1776Arg)
c.5324T>G (p.Leu1775Arg)
c.4589T>G (p.Leu1530Arg)
c.4586T>G (p.Leu1529Arg)
c.4949T>G (p.Leu1650Arg)
c.4868T>G (p.Leu1623Arg)
c.4865T>G (p.Leu1622Arg)
c.4673T>G (p.Leu1558Arg)
12g.889187T>ACA477851791WNK1c.5412T>A (p.Leu1804=)
c.6168T>A (p.Leu2056=)
c.4191T>A (p.Leu1397=)
c.2859T>A (p.Leu953=)
c.6651T>A (p.Leu2217=)
c.4671T>A (p.Leu1557=)
c.6192T>A (p.Leu2064=)
c.5409T>A (p.Leu1803=)
c.6648T>A (p.Leu2216=)
c.6372T>A (p.Leu2124=)
c.6189T>A (p.Leu2063=)
c.5913T>A (p.Leu1971=)
c.5910T>A (p.Leu1970=)
c.5430T>A (p.Leu1810=)
c.5328T>A (p.Leu1776=)
c.5325T>A (p.Leu1775=)
c.4590T>A (p.Leu1530=)
c.4587T>A (p.Leu1529=)
c.4950T>A (p.Leu1650=)
c.4869T>A (p.Leu1623=)
c.4866T>A (p.Leu1622=)
c.4674T>A (p.Leu1558=)
12g.889187T>CCA477851792WNK1c.5412T>C (p.Leu1804=)
c.6168T>C (p.Leu2056=)
c.4191T>C (p.Leu1397=)
c.2859T>C (p.Leu953=)
c.6651T>C (p.Leu2217=)
c.4671T>C (p.Leu1557=)
c.6192T>C (p.Leu2064=)
c.5409T>C (p.Leu1803=)
c.6648T>C (p.Leu2216=)
c.6372T>C (p.Leu2124=)
c.6189T>C (p.Leu2063=)
c.5913T>C (p.Leu1971=)
c.5910T>C (p.Leu1970=)
c.5430T>C (p.Leu1810=)
c.5328T>C (p.Leu1776=)
c.5325T>C (p.Leu1775=)
c.4590T>C (p.Leu1530=)
c.4587T>C (p.Leu1529=)
c.4950T>C (p.Leu1650=)
c.4869T>C (p.Leu1623=)
c.4866T>C (p.Leu1622=)
c.4674T>C (p.Leu1558=)
12g.889187T>GCA477851793WNK1c.5412T>G (p.Leu1804=)
c.6168T>G (p.Leu2056=)
c.4191T>G (p.Leu1397=)
c.2859T>G (p.Leu953=)
c.6651T>G (p.Leu2217=)
c.4671T>G (p.Leu1557=)
c.6192T>G (p.Leu2064=)
c.5409T>G (p.Leu1803=)
c.6648T>G (p.Leu2216=)
c.6372T>G (p.Leu2124=)
c.6189T>G (p.Leu2063=)
c.5913T>G (p.Leu1971=)
c.5910T>G (p.Leu1970=)
c.5430T>G (p.Leu1810=)
c.5328T>G (p.Leu1776=)
c.5325T>G (p.Leu1775=)
c.4590T>G (p.Leu1530=)
c.4587T>G (p.Leu1529=)
c.4950T>G (p.Leu1650=)
c.4869T>G (p.Leu1623=)
c.4866T>G (p.Leu1622=)
c.4674T>G (p.Leu1558=)
12g.889188A>CCA383333272WNK1c.5413A>C (p.Ser1805Arg)
c.6169A>C (p.Ser2057Arg)
c.4192A>C (p.Ser1398Arg)
c.2860A>C (p.Ser954Arg)
c.6652A>C (p.Ser2218Arg)
c.4672A>C (p.Ser1558Arg)
c.6193A>C (p.Ser2065Arg)
c.5410A>C (p.Ser1804Arg)
c.6649A>C (p.Ser2217Arg)
c.6373A>C (p.Ser2125Arg)
c.6190A>C (p.Ser2064Arg)
c.5914A>C (p.Ser1972Arg)
c.5911A>C (p.Ser1971Arg)
c.5431A>C (p.Ser1811Arg)
c.5329A>C (p.Ser1777Arg)
c.5326A>C (p.Ser1776Arg)
c.4591A>C (p.Ser1531Arg)
c.4588A>C (p.Ser1530Arg)
c.4951A>C (p.Ser1651Arg)
c.4870A>C (p.Ser1624Arg)
c.4867A>C (p.Ser1623Arg)
c.4675A>C (p.Ser1559Arg)
12g.889188A>GCA383333273WNK1c.5413A>G (p.Ser1805Gly)
c.6169A>G (p.Ser2057Gly)
c.4192A>G (p.Ser1398Gly)
c.2860A>G (p.Ser954Gly)
c.6652A>G (p.Ser2218Gly)
c.4672A>G (p.Ser1558Gly)
c.6193A>G (p.Ser2065Gly)
c.5410A>G (p.Ser1804Gly)
c.6649A>G (p.Ser2217Gly)
c.6373A>G (p.Ser2125Gly)
c.6190A>G (p.Ser2064Gly)
c.5914A>G (p.Ser1972Gly)
c.5911A>G (p.Ser1971Gly)
c.5431A>G (p.Ser1811Gly)
c.5329A>G (p.Ser1777Gly)
c.5326A>G (p.Ser1776Gly)
c.4591A>G (p.Ser1531Gly)
c.4588A>G (p.Ser1530Gly)
c.4951A>G (p.Ser1651Gly)
c.4870A>G (p.Ser1624Gly)
c.4867A>G (p.Ser1623Gly)
c.4675A>G (p.Ser1559Gly)
12g.889188A>TCA383333274WNK1c.5413A>T (p.Ser1805Cys)
c.6169A>T (p.Ser2057Cys)
c.4192A>T (p.Ser1398Cys)
c.2860A>T (p.Ser954Cys)
c.6652A>T (p.Ser2218Cys)
c.4672A>T (p.Ser1558Cys)
c.6193A>T (p.Ser2065Cys)
c.5410A>T (p.Ser1804Cys)
c.6649A>T (p.Ser2217Cys)
c.6373A>T (p.Ser2125Cys)
c.6190A>T (p.Ser2064Cys)
c.5914A>T (p.Ser1972Cys)
c.5911A>T (p.Ser1971Cys)
c.5431A>T (p.Ser1811Cys)
c.5329A>T (p.Ser1777Cys)
c.5326A>T (p.Ser1776Cys)
c.4591A>T (p.Ser1531Cys)
c.4588A>T (p.Ser1530Cys)
c.4951A>T (p.Ser1651Cys)
c.4870A>T (p.Ser1624Cys)
c.4867A>T (p.Ser1623Cys)
c.4675A>T (p.Ser1559Cys)
12g.889189G>ACA383333275WNK1c.5414G>A (p.Ser1805Asn)
c.6170G>A (p.Ser2057Asn)
c.4193G>A (p.Ser1398Asn)
c.2861G>A (p.Ser954Asn)
c.6653G>A (p.Ser2218Asn)
c.4673G>A (p.Ser1558Asn)
c.6194G>A (p.Ser2065Asn)
c.5411G>A (p.Ser1804Asn)
c.6650G>A (p.Ser2217Asn)
c.6374G>A (p.Ser2125Asn)
c.6191G>A (p.Ser2064Asn)
c.5915G>A (p.Ser1972Asn)
c.5912G>A (p.Ser1971Asn)
c.5432G>A (p.Ser1811Asn)
c.5330G>A (p.Ser1777Asn)
c.5327G>A (p.Ser1776Asn)
c.4592G>A (p.Ser1531Asn)
c.4589G>A (p.Ser1530Asn)
c.4952G>A (p.Ser1651Asn)
c.4871G>A (p.Ser1624Asn)
c.4868G>A (p.Ser1623Asn)
c.4676G>A (p.Ser1559Asn)
12g.889189G>CCA383333276WNK1c.5414G>C (p.Ser1805Thr)
c.6170G>C (p.Ser2057Thr)
c.4193G>C (p.Ser1398Thr)
c.2861G>C (p.Ser954Thr)
c.6653G>C (p.Ser2218Thr)
c.4673G>C (p.Ser1558Thr)
c.6194G>C (p.Ser2065Thr)
c.5411G>C (p.Ser1804Thr)
c.6650G>C (p.Ser2217Thr)
c.6374G>C (p.Ser2125Thr)
c.6191G>C (p.Ser2064Thr)
c.5915G>C (p.Ser1972Thr)
c.5912G>C (p.Ser1971Thr)
c.5432G>C (p.Ser1811Thr)
c.5330G>C (p.Ser1777Thr)
c.5327G>C (p.Ser1776Thr)
c.4592G>C (p.Ser1531Thr)
c.4589G>C (p.Ser1530Thr)
c.4952G>C (p.Ser1651Thr)
c.4871G>C (p.Ser1624Thr)
c.4868G>C (p.Ser1623Thr)
c.4676G>C (p.Ser1559Thr)
12g.889189G>TCA383333277WNK1c.5414G>T (p.Ser1805Ile)
c.6170G>T (p.Ser2057Ile)
c.4193G>T (p.Ser1398Ile)
c.2861G>T (p.Ser954Ile)
c.6653G>T (p.Ser2218Ile)
c.4673G>T (p.Ser1558Ile)
c.6194G>T (p.Ser2065Ile)
c.5411G>T (p.Ser1804Ile)
c.6650G>T (p.Ser2217Ile)
c.6374G>T (p.Ser2125Ile)
c.6191G>T (p.Ser2064Ile)
c.5915G>T (p.Ser1972Ile)
c.5912G>T (p.Ser1971Ile)
c.5432G>T (p.Ser1811Ile)
c.5330G>T (p.Ser1777Ile)
c.5327G>T (p.Ser1776Ile)
c.4592G>T (p.Ser1531Ile)
c.4589G>T (p.Ser1530Ile)
c.4952G>T (p.Ser1651Ile)
c.4871G>T (p.Ser1624Ile)
c.4868G>T (p.Ser1623Ile)
c.4676G>T (p.Ser1559Ile)
12g.889190T>ACA383333279WNK1c.5415T>A (p.Ser1805Arg)
c.6171T>A (p.Ser2057Arg)
c.4194T>A (p.Ser1398Arg)
c.2862T>A (p.Ser954Arg)
c.6654T>A (p.Ser2218Arg)
c.4674T>A (p.Ser1558Arg)
c.6195T>A (p.Ser2065Arg)
c.5412T>A (p.Ser1804Arg)
c.6651T>A (p.Ser2217Arg)
c.6375T>A (p.Ser2125Arg)
c.6192T>A (p.Ser2064Arg)
c.5916T>A (p.Ser1972Arg)
c.5913T>A (p.Ser1971Arg)
c.5433T>A (p.Ser1811Arg)
c.5331T>A (p.Ser1777Arg)
c.5328T>A (p.Ser1776Arg)
c.4593T>A (p.Ser1531Arg)
c.4590T>A (p.Ser1530Arg)
c.4953T>A (p.Ser1651Arg)
c.4872T>A (p.Ser1624Arg)
c.4869T>A (p.Ser1623Arg)
c.4677T>A (p.Ser1559Arg)
12g.889190T>CCA477851795WNK1c.5415T>C (p.Ser1805=)
c.6171T>C (p.Ser2057=)
c.4194T>C (p.Ser1398=)
c.2862T>C (p.Ser954=)
c.6654T>C (p.Ser2218=)
c.4674T>C (p.Ser1558=)
c.6195T>C (p.Ser2065=)
c.5412T>C (p.Ser1804=)
c.6651T>C (p.Ser2217=)
c.6375T>C (p.Ser2125=)
c.6192T>C (p.Ser2064=)
c.5916T>C (p.Ser1972=)
c.5913T>C (p.Ser1971=)
c.5433T>C (p.Ser1811=)
c.5331T>C (p.Ser1777=)
c.5328T>C (p.Ser1776=)
c.4593T>C (p.Ser1531=)
c.4590T>C (p.Ser1530=)
c.4953T>C (p.Ser1651=)
c.4872T>C (p.Ser1624=)
c.4869T>C (p.Ser1623=)
c.4677T>C (p.Ser1559=)
12g.889190T>GCA383333278WNK1c.5415T>G (p.Ser1805Arg)
c.6171T>G (p.Ser2057Arg)
c.4194T>G (p.Ser1398Arg)
c.2862T>G (p.Ser954Arg)
c.6654T>G (p.Ser2218Arg)
c.4674T>G (p.Ser1558Arg)
c.6195T>G (p.Ser2065Arg)
c.5412T>G (p.Ser1804Arg)
c.6651T>G (p.Ser2217Arg)
c.6375T>G (p.Ser2125Arg)
c.6192T>G (p.Ser2064Arg)
c.5916T>G (p.Ser1972Arg)
c.5913T>G (p.Ser1971Arg)
c.5433T>G (p.Ser1811Arg)
c.5331T>G (p.Ser1777Arg)
c.5328T>G (p.Ser1776Arg)
c.4593T>G (p.Ser1531Arg)
c.4590T>G (p.Ser1530Arg)
c.4953T>G (p.Ser1651Arg)
c.4872T>G (p.Ser1624Arg)
c.4869T>G (p.Ser1623Arg)
c.4677T>G (p.Ser1559Arg)
12g.889191C>ACA383333280WNK1c.5416C>A (p.Pro1806Thr)
c.6172C>A (p.Pro2058Thr)
c.4195C>A (p.Pro1399Thr)
c.2863C>A (p.Pro955Thr)
c.6655C>A (p.Pro2219Thr)
c.4675C>A (p.Pro1559Thr)
c.6196C>A (p.Pro2066Thr)
c.5413C>A (p.Pro1805Thr)
c.6652C>A (p.Pro2218Thr)
c.6376C>A (p.Pro2126Thr)
c.6193C>A (p.Pro2065Thr)
c.5917C>A (p.Pro1973Thr)
c.5914C>A (p.Pro1972Thr)
c.5434C>A (p.Pro1812Thr)
c.5332C>A (p.Pro1778Thr)
c.5329C>A (p.Pro1777Thr)
c.4594C>A (p.Pro1532Thr)
c.4591C>A (p.Pro1531Thr)
c.4954C>A (p.Pro1652Thr)
c.4873C>A (p.Pro1625Thr)
c.4870C>A (p.Pro1624Thr)
c.4678C>A (p.Pro1560Thr)
12g.889191C>GCA383333281WNK1c.5416C>G (p.Pro1806Ala)
c.6172C>G (p.Pro2058Ala)
c.4195C>G (p.Pro1399Ala)
c.2863C>G (p.Pro955Ala)
c.6655C>G (p.Pro2219Ala)
c.4675C>G (p.Pro1559Ala)
c.6196C>G (p.Pro2066Ala)
c.5413C>G (p.Pro1805Ala)
c.6652C>G (p.Pro2218Ala)
c.6376C>G (p.Pro2126Ala)
c.6193C>G (p.Pro2065Ala)
c.5917C>G (p.Pro1973Ala)
c.5914C>G (p.Pro1972Ala)
c.5434C>G (p.Pro1812Ala)
c.5332C>G (p.Pro1778Ala)
c.5329C>G (p.Pro1777Ala)
c.4594C>G (p.Pro1532Ala)
c.4591C>G (p.Pro1531Ala)
c.4954C>G (p.Pro1652Ala)
c.4873C>G (p.Pro1625Ala)
c.4870C>G (p.Pro1624Ala)
c.4678C>G (p.Pro1560Ala)
12g.889191C>TCA383333282WNK1c.5416C>T (p.Pro1806Ser)
c.6172C>T (p.Pro2058Ser)
c.4195C>T (p.Pro1399Ser)
c.2863C>T (p.Pro955Ser)
c.6655C>T (p.Pro2219Ser)
c.4675C>T (p.Pro1559Ser)
c.6196C>T (p.Pro2066Ser)
c.5413C>T (p.Pro1805Ser)
c.6652C>T (p.Pro2218Ser)
c.6376C>T (p.Pro2126Ser)
c.6193C>T (p.Pro2065Ser)
c.5917C>T (p.Pro1973Ser)
c.5914C>T (p.Pro1972Ser)
c.5434C>T (p.Pro1812Ser)
c.5332C>T (p.Pro1778Ser)
c.5329C>T (p.Pro1777Ser)
c.4594C>T (p.Pro1532Ser)
c.4591C>T (p.Pro1531Ser)
c.4954C>T (p.Pro1652Ser)
c.4873C>T (p.Pro1625Ser)
c.4870C>T (p.Pro1624Ser)
c.4678C>T (p.Pro1560Ser)
12g.889192C>ACA383333283WNK1c.5417C>A (p.Pro1806Gln)
c.6173C>A (p.Pro2058Gln)
c.4196C>A (p.Pro1399Gln)
c.2864C>A (p.Pro955Gln)
c.6656C>A (p.Pro2219Gln)
c.4676C>A (p.Pro1559Gln)
c.6197C>A (p.Pro2066Gln)
c.5414C>A (p.Pro1805Gln)
c.6653C>A (p.Pro2218Gln)
c.6377C>A (p.Pro2126Gln)
c.6194C>A (p.Pro2065Gln)
c.5918C>A (p.Pro1973Gln)
c.5915C>A (p.Pro1972Gln)
c.5435C>A (p.Pro1812Gln)
c.5333C>A (p.Pro1778Gln)
c.5330C>A (p.Pro1777Gln)
c.4595C>A (p.Pro1532Gln)
c.4592C>A (p.Pro1531Gln)
c.4955C>A (p.Pro1652Gln)
c.4874C>A (p.Pro1625Gln)
c.4871C>A (p.Pro1624Gln)
c.4679C>A (p.Pro1560Gln)
12g.889192C>GCA383333284WNK1c.5417C>G (p.Pro1806Arg)
c.6173C>G (p.Pro2058Arg)
c.4196C>G (p.Pro1399Arg)
c.2864C>G (p.Pro955Arg)
c.6656C>G (p.Pro2219Arg)
c.4676C>G (p.Pro1559Arg)
c.6197C>G (p.Pro2066Arg)
c.5414C>G (p.Pro1805Arg)
c.6653C>G (p.Pro2218Arg)
c.6377C>G (p.Pro2126Arg)
c.6194C>G (p.Pro2065Arg)
c.5918C>G (p.Pro1973Arg)
c.5915C>G (p.Pro1972Arg)
c.5435C>G (p.Pro1812Arg)
c.5333C>G (p.Pro1778Arg)
c.5330C>G (p.Pro1777Arg)
c.4595C>G (p.Pro1532Arg)
c.4592C>G (p.Pro1531Arg)
c.4955C>G (p.Pro1652Arg)
c.4874C>G (p.Pro1625Arg)
c.4871C>G (p.Pro1624Arg)
c.4679C>G (p.Pro1560Arg)
12g.889192C>TCA383333285WNK1c.5417C>T (p.Pro1806Leu)
c.6173C>T (p.Pro2058Leu)
c.4196C>T (p.Pro1399Leu)
c.2864C>T (p.Pro955Leu)
c.6656C>T (p.Pro2219Leu)
c.4676C>T (p.Pro1559Leu)
c.6197C>T (p.Pro2066Leu)
c.5414C>T (p.Pro1805Leu)
c.6653C>T (p.Pro2218Leu)
c.6377C>T (p.Pro2126Leu)
c.6194C>T (p.Pro2065Leu)
c.5918C>T (p.Pro1973Leu)
c.5915C>T (p.Pro1972Leu)
c.5435C>T (p.Pro1812Leu)
c.5333C>T (p.Pro1778Leu)
c.5330C>T (p.Pro1777Leu)
c.4595C>T (p.Pro1532Leu)
c.4592C>T (p.Pro1531Leu)
c.4955C>T (p.Pro1652Leu)
c.4874C>T (p.Pro1625Leu)
c.4871C>T (p.Pro1624Leu)
c.4679C>T (p.Pro1560Leu)
12g.889193A=CA2011734394WNK1c.5418A= (p.Pro1806=)
c.6174A= (p.Pro2058=)
c.4197A= (p.Pro1399=)
c.2865A= (p.Pro955=)
c.6657A= (p.Pro2219=)
c.4677A= (p.Pro1559=)
c.6198A= (p.Pro2066=)
c.5415A= (p.Pro1805=)
c.6654A= (p.Pro2218=)
c.6378A= (p.Pro2126=)
c.6195A= (p.Pro2065=)
c.5919A= (p.Pro1973=)
c.5916A= (p.Pro1972=)
c.5436A= (p.Pro1812=)
c.5334A= (p.Pro1778=)
c.5331A= (p.Pro1777=)
c.4596A= (p.Pro1532=)
c.4593A= (p.Pro1531=)
c.4956A= (p.Pro1652=)
c.4875A= (p.Pro1625=)
c.4872A= (p.Pro1624=)
c.4680A= (p.Pro1560=)
12g.889193A>CCA477851796WNK1c.5418A>C (p.Pro1806=)
c.6174A>C (p.Pro2058=)
c.4197A>C (p.Pro1399=)
c.2865A>C (p.Pro955=)
c.6657A>C (p.Pro2219=)
c.4677A>C (p.Pro1559=)
c.6198A>C (p.Pro2066=)
c.5415A>C (p.Pro1805=)
c.6654A>C (p.Pro2218=)
c.6378A>C (p.Pro2126=)
c.6195A>C (p.Pro2065=)
c.5919A>C (p.Pro1973=)
c.5916A>C (p.Pro1972=)
c.5436A>C (p.Pro1812=)
c.5334A>C (p.Pro1778=)
c.5331A>C (p.Pro1777=)
c.4596A>C (p.Pro1532=)
c.4593A>C (p.Pro1531=)
c.4956A>C (p.Pro1652=)
c.4875A>C (p.Pro1625=)
c.4872A>C (p.Pro1624=)
c.4680A>C (p.Pro1560=)
gnomAD v4
12g.889193A>GCA6383166WNK1c.5418A>G (p.Pro1806=)
c.6174A>G (p.Pro2058=)
c.4197A>G (p.Pro1399=)
c.2865A>G (p.Pro955=)
c.6657A>G (p.Pro2219=)
c.4677A>G (p.Pro1559=)
c.6198A>G (p.Pro2066=)
c.5415A>G (p.Pro1805=)
c.6654A>G (p.Pro2218=)
c.6378A>G (p.Pro2126=)
c.6195A>G (p.Pro2065=)
c.5919A>G (p.Pro1973=)
c.5916A>G (p.Pro1972=)
c.5436A>G (p.Pro1812=)
c.5334A>G (p.Pro1778=)
c.5331A>G (p.Pro1777=)
c.4596A>G (p.Pro1532=)
c.4593A>G (p.Pro1531=)
c.4956A>G (p.Pro1652=)
c.4875A>G (p.Pro1625=)
c.4872A>G (p.Pro1624=)
c.4680A>G (p.Pro1560=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889193A>TCA477851797WNK1c.5418A>T (p.Pro1806=)
c.6174A>T (p.Pro2058=)
c.4197A>T (p.Pro1399=)
c.2865A>T (p.Pro955=)
c.6657A>T (p.Pro2219=)
c.4677A>T (p.Pro1559=)
c.6198A>T (p.Pro2066=)
c.5415A>T (p.Pro1805=)
c.6654A>T (p.Pro2218=)
c.6378A>T (p.Pro2126=)
c.6195A>T (p.Pro2065=)
c.5919A>T (p.Pro1973=)
c.5916A>T (p.Pro1972=)
c.5436A>T (p.Pro1812=)
c.5334A>T (p.Pro1778=)
c.5331A>T (p.Pro1777=)
c.4596A>T (p.Pro1532=)
c.4593A>T (p.Pro1531=)
c.4956A>T (p.Pro1652=)
c.4875A>T (p.Pro1625=)
c.4872A>T (p.Pro1624=)
c.4680A>T (p.Pro1560=)
12g.889194G>ACA383333288WNK1c.5419G>A (p.Glu1807Lys)
c.6175G>A (p.Glu2059Lys)
c.4198G>A (p.Glu1400Lys)
c.2866G>A (p.Glu956Lys)
c.6658G>A (p.Glu2220Lys)
c.4678G>A (p.Glu1560Lys)
c.6199G>A (p.Glu2067Lys)
c.5416G>A (p.Glu1806Lys)
c.6655G>A (p.Glu2219Lys)
c.6379G>A (p.Glu2127Lys)
c.6196G>A (p.Glu2066Lys)
c.5920G>A (p.Glu1974Lys)
c.5917G>A (p.Glu1973Lys)
c.5437G>A (p.Glu1813Lys)
c.5335G>A (p.Glu1779Lys)
c.5332G>A (p.Glu1778Lys)
c.4597G>A (p.Glu1533Lys)
c.4594G>A (p.Glu1532Lys)
c.4957G>A (p.Glu1653Lys)
c.4876G>A (p.Glu1626Lys)
c.4873G>A (p.Glu1625Lys)
c.4681G>A (p.Glu1561Lys)
12g.889194G>CCA383333286WNK1c.5419G>C (p.Glu1807Gln)
c.6175G>C (p.Glu2059Gln)
c.4198G>C (p.Glu1400Gln)
c.2866G>C (p.Glu956Gln)
c.6658G>C (p.Glu2220Gln)
c.4678G>C (p.Glu1560Gln)
c.6199G>C (p.Glu2067Gln)
c.5416G>C (p.Glu1806Gln)
c.6655G>C (p.Glu2219Gln)
c.6379G>C (p.Glu2127Gln)
c.6196G>C (p.Glu2066Gln)
c.5920G>C (p.Glu1974Gln)
c.5917G>C (p.Glu1973Gln)
c.5437G>C (p.Glu1813Gln)
c.5335G>C (p.Glu1779Gln)
c.5332G>C (p.Glu1778Gln)
c.4597G>C (p.Glu1533Gln)
c.4594G>C (p.Glu1532Gln)
c.4957G>C (p.Glu1653Gln)
c.4876G>C (p.Glu1626Gln)
c.4873G>C (p.Glu1625Gln)
c.4681G>C (p.Glu1561Gln)
gnomAD v4
12g.889194G>TCA383333287WNK1c.5419G>T (p.Glu1807Ter)
c.6175G>T (p.Glu2059Ter)
c.4198G>T (p.Glu1400Ter)
c.2866G>T (p.Glu956Ter)
c.6658G>T (p.Glu2220Ter)
c.4678G>T (p.Glu1560Ter)
c.6199G>T (p.Glu2067Ter)
c.5416G>T (p.Glu1806Ter)
c.6655G>T (p.Glu2219Ter)
c.6379G>T (p.Glu2127Ter)
c.6196G>T (p.Glu2066Ter)
c.5920G>T (p.Glu1974Ter)
c.5917G>T (p.Glu1973Ter)
c.5437G>T (p.Glu1813Ter)
c.5335G>T (p.Glu1779Ter)
c.5332G>T (p.Glu1778Ter)
c.4597G>T (p.Glu1533Ter)
c.4594G>T (p.Glu1532Ter)
c.4957G>T (p.Glu1653Ter)
c.4876G>T (p.Glu1626Ter)
c.4873G>T (p.Glu1625Ter)
c.4681G>T (p.Glu1561Ter)
12g.889195A=CA2011734399WNK1c.5420A= (p.Glu1807=)
c.6176A= (p.Glu2059=)
c.4199A= (p.Glu1400=)
c.2867A= (p.Glu956=)
c.6659A= (p.Glu2220=)
c.4679A= (p.Glu1560=)
c.6200A= (p.Glu2067=)
c.5417A= (p.Glu1806=)
c.6656A= (p.Glu2219=)
c.6380A= (p.Glu2127=)
c.6197A= (p.Glu2066=)
c.5921A= (p.Glu1974=)
c.5918A= (p.Glu1973=)
c.5438A= (p.Glu1813=)
c.5336A= (p.Glu1779=)
c.5333A= (p.Glu1778=)
c.4598A= (p.Glu1533=)
c.4595A= (p.Glu1532=)
c.4958A= (p.Glu1653=)
c.4877A= (p.Glu1626=)
c.4874A= (p.Glu1625=)
c.4682A= (p.Glu1561=)
12g.889195A>CCA383333289WNK1c.5420A>C (p.Glu1807Ala)
c.6176A>C (p.Glu2059Ala)
c.4199A>C (p.Glu1400Ala)
c.2867A>C (p.Glu956Ala)
c.6659A>C (p.Glu2220Ala)
c.4679A>C (p.Glu1560Ala)
c.6200A>C (p.Glu2067Ala)
c.5417A>C (p.Glu1806Ala)
c.6656A>C (p.Glu2219Ala)
c.6380A>C (p.Glu2127Ala)
c.6197A>C (p.Glu2066Ala)
c.5921A>C (p.Glu1974Ala)
c.5918A>C (p.Glu1973Ala)
c.5438A>C (p.Glu1813Ala)
c.5336A>C (p.Glu1779Ala)
c.5333A>C (p.Glu1778Ala)
c.4598A>C (p.Glu1533Ala)
c.4595A>C (p.Glu1532Ala)
c.4958A>C (p.Glu1653Ala)
c.4877A>C (p.Glu1626Ala)
c.4874A>C (p.Glu1625Ala)
c.4682A>C (p.Glu1561Ala)
dbSNP gnomAD v4
12g.889195A>GCA383333290WNK1c.5420A>G (p.Glu1807Gly)
c.6176A>G (p.Glu2059Gly)
c.4199A>G (p.Glu1400Gly)
c.2867A>G (p.Glu956Gly)
c.6659A>G (p.Glu2220Gly)
c.4679A>G (p.Glu1560Gly)
c.6200A>G (p.Glu2067Gly)
c.5417A>G (p.Glu1806Gly)
c.6656A>G (p.Glu2219Gly)
c.6380A>G (p.Glu2127Gly)
c.6197A>G (p.Glu2066Gly)
c.5921A>G (p.Glu1974Gly)
c.5918A>G (p.Glu1973Gly)
c.5438A>G (p.Glu1813Gly)
c.5336A>G (p.Glu1779Gly)
c.5333A>G (p.Glu1778Gly)
c.4598A>G (p.Glu1533Gly)
c.4595A>G (p.Glu1532Gly)
c.4958A>G (p.Glu1653Gly)
c.4877A>G (p.Glu1626Gly)
c.4874A>G (p.Glu1625Gly)
c.4682A>G (p.Glu1561Gly)
gnomAD v4
12g.889195A>TCA383333291WNK1c.5420A>T (p.Glu1807Val)
c.6176A>T (p.Glu2059Val)
c.4199A>T (p.Glu1400Val)
c.2867A>T (p.Glu956Val)
c.6659A>T (p.Glu2220Val)
c.4679A>T (p.Glu1560Val)
c.6200A>T (p.Glu2067Val)
c.5417A>T (p.Glu1806Val)
c.6656A>T (p.Glu2219Val)
c.6380A>T (p.Glu2127Val)
c.6197A>T (p.Glu2066Val)
c.5921A>T (p.Glu1974Val)
c.5918A>T (p.Glu1973Val)
c.5438A>T (p.Glu1813Val)
c.5336A>T (p.Glu1779Val)
c.5333A>T (p.Glu1778Val)
c.4598A>T (p.Glu1533Val)
c.4595A>T (p.Glu1532Val)
c.4958A>T (p.Glu1653Val)
c.4877A>T (p.Glu1626Val)
c.4874A>T (p.Glu1625Val)
c.4682A>T (p.Glu1561Val)
12g.889196G>ACA477851800WNK1c.5421G>A (p.Glu1807=)
c.6177G>A (p.Glu2059=)
c.4200G>A (p.Glu1400=)
c.2868G>A (p.Glu956=)
c.6660G>A (p.Glu2220=)
c.4680G>A (p.Glu1560=)
c.6201G>A (p.Glu2067=)
c.5418G>A (p.Glu1806=)
c.6657G>A (p.Glu2219=)
c.6381G>A (p.Glu2127=)
c.6198G>A (p.Glu2066=)
c.5922G>A (p.Glu1974=)
c.5919G>A (p.Glu1973=)
c.5439G>A (p.Glu1813=)
c.5337G>A (p.Glu1779=)
c.5334G>A (p.Glu1778=)
c.4599G>A (p.Glu1533=)
c.4596G>A (p.Glu1532=)
c.4959G>A (p.Glu1653=)
c.4878G>A (p.Glu1626=)
c.4875G>A (p.Glu1625=)
c.4683G>A (p.Glu1561=)
12g.889196G>CCA383333292WNK1c.5421G>C (p.Glu1807Asp)
c.6177G>C (p.Glu2059Asp)
c.4200G>C (p.Glu1400Asp)
c.2868G>C (p.Glu956Asp)
c.6660G>C (p.Glu2220Asp)
c.4680G>C (p.Glu1560Asp)
c.6201G>C (p.Glu2067Asp)
c.5418G>C (p.Glu1806Asp)
c.6657G>C (p.Glu2219Asp)
c.6381G>C (p.Glu2127Asp)
c.6198G>C (p.Glu2066Asp)
c.5922G>C (p.Glu1974Asp)
c.5919G>C (p.Glu1973Asp)
c.5439G>C (p.Glu1813Asp)
c.5337G>C (p.Glu1779Asp)
c.5334G>C (p.Glu1778Asp)
c.4599G>C (p.Glu1533Asp)
c.4596G>C (p.Glu1532Asp)
c.4959G>C (p.Glu1653Asp)
c.4878G>C (p.Glu1626Asp)
c.4875G>C (p.Glu1625Asp)
c.4683G>C (p.Glu1561Asp)
gnomAD v4
12g.889196G>TCA383333293WNK1c.5421G>T (p.Glu1807Asp)
c.6177G>T (p.Glu2059Asp)
c.4200G>T (p.Glu1400Asp)
c.2868G>T (p.Glu956Asp)
c.6660G>T (p.Glu2220Asp)
c.4680G>T (p.Glu1560Asp)
c.6201G>T (p.Glu2067Asp)
c.5418G>T (p.Glu1806Asp)
c.6657G>T (p.Glu2219Asp)
c.6381G>T (p.Glu2127Asp)
c.6198G>T (p.Glu2066Asp)
c.5922G>T (p.Glu1974Asp)
c.5919G>T (p.Glu1973Asp)
c.5439G>T (p.Glu1813Asp)
c.5337G>T (p.Glu1779Asp)
c.5334G>T (p.Glu1778Asp)
c.4599G>T (p.Glu1533Asp)
c.4596G>T (p.Glu1532Asp)
c.4959G>T (p.Glu1653Asp)
c.4878G>T (p.Glu1626Asp)
c.4875G>T (p.Glu1625Asp)
c.4683G>T (p.Glu1561Asp)
12g.889197A>CCA383333294WNK1c.5422A>C (p.Met1808Leu)
c.6178A>C (p.Met2060Leu)
c.4201A>C (p.Met1401Leu)
c.2869A>C (p.Met957Leu)
c.6661A>C (p.Met2221Leu)
c.4681A>C (p.Met1561Leu)
c.6202A>C (p.Met2068Leu)
c.5419A>C (p.Met1807Leu)
c.6658A>C (p.Met2220Leu)
c.6382A>C (p.Met2128Leu)
c.6199A>C (p.Met2067Leu)
c.5923A>C (p.Met1975Leu)
c.5920A>C (p.Met1974Leu)
c.5440A>C (p.Met1814Leu)
c.5338A>C (p.Met1780Leu)
c.5335A>C (p.Met1779Leu)
c.4600A>C (p.Met1534Leu)
c.4597A>C (p.Met1533Leu)
c.4960A>C (p.Met1654Leu)
c.4879A>C (p.Met1627Leu)
c.4876A>C (p.Met1626Leu)
c.4684A>C (p.Met1562Leu)
12g.889197A>GCA383333296WNK1c.5422A>G (p.Met1808Val)
c.6178A>G (p.Met2060Val)
c.4201A>G (p.Met1401Val)
c.2869A>G (p.Met957Val)
c.6661A>G (p.Met2221Val)
c.4681A>G (p.Met1561Val)
c.6202A>G (p.Met2068Val)
c.5419A>G (p.Met1807Val)
c.6658A>G (p.Met2220Val)
c.6382A>G (p.Met2128Val)
c.6199A>G (p.Met2067Val)
c.5923A>G (p.Met1975Val)
c.5920A>G (p.Met1974Val)
c.5440A>G (p.Met1814Val)
c.5338A>G (p.Met1780Val)
c.5335A>G (p.Met1779Val)
c.4600A>G (p.Met1534Val)
c.4597A>G (p.Met1533Val)
c.4960A>G (p.Met1654Val)
c.4879A>G (p.Met1627Val)
c.4876A>G (p.Met1626Val)
c.4684A>G (p.Met1562Val)
gnomAD v4
12g.889197A>TCA383333295WNK1c.5422A>T (p.Met1808Leu)
c.6178A>T (p.Met2060Leu)
c.4201A>T (p.Met1401Leu)
c.2869A>T (p.Met957Leu)
c.6661A>T (p.Met2221Leu)
c.4681A>T (p.Met1561Leu)
c.6202A>T (p.Met2068Leu)
c.5419A>T (p.Met1807Leu)
c.6658A>T (p.Met2220Leu)
c.6382A>T (p.Met2128Leu)
c.6199A>T (p.Met2067Leu)
c.5923A>T (p.Met1975Leu)
c.5920A>T (p.Met1974Leu)
c.5440A>T (p.Met1814Leu)
c.5338A>T (p.Met1780Leu)
c.5335A>T (p.Met1779Leu)
c.4600A>T (p.Met1534Leu)
c.4597A>T (p.Met1533Leu)
c.4960A>T (p.Met1654Leu)
c.4879A>T (p.Met1627Leu)
c.4876A>T (p.Met1626Leu)
c.4684A>T (p.Met1562Leu)
12g.889198T>ACA383333297WNK1c.5423T>A (p.Met1808Lys)
c.6179T>A (p.Met2060Lys)
c.4202T>A (p.Met1401Lys)
c.2870T>A (p.Met957Lys)
c.6662T>A (p.Met2221Lys)
c.4682T>A (p.Met1561Lys)
c.6203T>A (p.Met2068Lys)
c.5420T>A (p.Met1807Lys)
c.6659T>A (p.Met2220Lys)
c.6383T>A (p.Met2128Lys)
c.6200T>A (p.Met2067Lys)
c.5924T>A (p.Met1975Lys)
c.5921T>A (p.Met1974Lys)
c.5441T>A (p.Met1814Lys)
c.5339T>A (p.Met1780Lys)
c.5336T>A (p.Met1779Lys)
c.4601T>A (p.Met1534Lys)
c.4598T>A (p.Met1533Lys)
c.4961T>A (p.Met1654Lys)
c.4880T>A (p.Met1627Lys)
c.4877T>A (p.Met1626Lys)
c.4685T>A (p.Met1562Lys)
12g.889198T>CCA383333298WNK1c.5423T>C (p.Met1808Thr)
c.6179T>C (p.Met2060Thr)
c.4202T>C (p.Met1401Thr)
c.2870T>C (p.Met957Thr)
c.6662T>C (p.Met2221Thr)
c.4682T>C (p.Met1561Thr)
c.6203T>C (p.Met2068Thr)
c.5420T>C (p.Met1807Thr)
c.6659T>C (p.Met2220Thr)
c.6383T>C (p.Met2128Thr)
c.6200T>C (p.Met2067Thr)
c.5924T>C (p.Met1975Thr)
c.5921T>C (p.Met1974Thr)
c.5441T>C (p.Met1814Thr)
c.5339T>C (p.Met1780Thr)
c.5336T>C (p.Met1779Thr)
c.4601T>C (p.Met1534Thr)
c.4598T>C (p.Met1533Thr)
c.4961T>C (p.Met1654Thr)
c.4880T>C (p.Met1627Thr)
c.4877T>C (p.Met1626Thr)
c.4685T>C (p.Met1562Thr)
12g.889198T>GCA383333299WNK1c.5423T>G (p.Met1808Arg)
c.6179T>G (p.Met2060Arg)
c.4202T>G (p.Met1401Arg)
c.2870T>G (p.Met957Arg)
c.6662T>G (p.Met2221Arg)
c.4682T>G (p.Met1561Arg)
c.6203T>G (p.Met2068Arg)
c.5420T>G (p.Met1807Arg)
c.6659T>G (p.Met2220Arg)
c.6383T>G (p.Met2128Arg)
c.6200T>G (p.Met2067Arg)
c.5924T>G (p.Met1975Arg)
c.5921T>G (p.Met1974Arg)
c.5441T>G (p.Met1814Arg)
c.5339T>G (p.Met1780Arg)
c.5336T>G (p.Met1779Arg)
c.4601T>G (p.Met1534Arg)
c.4598T>G (p.Met1533Arg)
c.4961T>G (p.Met1654Arg)
c.4880T>G (p.Met1627Arg)
c.4877T>G (p.Met1626Arg)
c.4685T>G (p.Met1562Arg)
12g.889199G>ACA383333300WNK1c.5424G>A (p.Met1808Ile)
c.6180G>A (p.Met2060Ile)
c.4203G>A (p.Met1401Ile)
c.2871G>A (p.Met957Ile)
c.6663G>A (p.Met2221Ile)
c.4683G>A (p.Met1561Ile)
c.6204G>A (p.Met2068Ile)
c.5421G>A (p.Met1807Ile)
c.6660G>A (p.Met2220Ile)
c.6384G>A (p.Met2128Ile)
c.6201G>A (p.Met2067Ile)
c.5925G>A (p.Met1975Ile)
c.5922G>A (p.Met1974Ile)
c.5442G>A (p.Met1814Ile)
c.5340G>A (p.Met1780Ile)
c.5337G>A (p.Met1779Ile)
c.4602G>A (p.Met1534Ile)
c.4599G>A (p.Met1533Ile)
c.4962G>A (p.Met1654Ile)
c.4881G>A (p.Met1627Ile)
c.4878G>A (p.Met1626Ile)
c.4686G>A (p.Met1562Ile)
12g.889199G>CCA383333301WNK1c.5424G>C (p.Met1808Ile)
c.6180G>C (p.Met2060Ile)
c.4203G>C (p.Met1401Ile)
c.2871G>C (p.Met957Ile)
c.6663G>C (p.Met2221Ile)
c.4683G>C (p.Met1561Ile)
c.6204G>C (p.Met2068Ile)
c.5421G>C (p.Met1807Ile)
c.6660G>C (p.Met2220Ile)
c.6384G>C (p.Met2128Ile)
c.6201G>C (p.Met2067Ile)
c.5925G>C (p.Met1975Ile)
c.5922G>C (p.Met1974Ile)
c.5442G>C (p.Met1814Ile)
c.5340G>C (p.Met1780Ile)
c.5337G>C (p.Met1779Ile)
c.4602G>C (p.Met1534Ile)
c.4599G>C (p.Met1533Ile)
c.4962G>C (p.Met1654Ile)
c.4881G>C (p.Met1627Ile)
c.4878G>C (p.Met1626Ile)
c.4686G>C (p.Met1562Ile)
12g.889199G=CA2011734403WNK1c.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=)
12g.889199G>TCA6383167WNK1c.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
12g.889200A>CCA383333302WNK1c.5425A>C (p.Ile1809Leu)
c.6181A>C (p.Ile2061Leu)
c.4204A>C (p.Ile1402Leu)
c.2872A>C (p.Ile958Leu)
c.6664A>C (p.Ile2222Leu)
c.4684A>C (p.Ile1562Leu)
c.6205A>C (p.Ile2069Leu)
c.5422A>C (p.Ile1808Leu)
c.6661A>C (p.Ile2221Leu)
c.6385A>C (p.Ile2129Leu)
c.6202A>C (p.Ile2068Leu)
c.5926A>C (p.Ile1976Leu)
c.5923A>C (p.Ile1975Leu)
c.5443A>C (p.Ile1815Leu)
c.5341A>C (p.Ile1781Leu)
c.5338A>C (p.Ile1780Leu)
c.4603A>C (p.Ile1535Leu)
c.4600A>C (p.Ile1534Leu)
c.4963A>C (p.Ile1655Leu)
c.4882A>C (p.Ile1628Leu)
c.4879A>C (p.Ile1627Leu)
c.4687A>C (p.Ile1563Leu)
12g.889200A>GCA383333303WNK1c.5425A>G (p.Ile1809Val)
c.6181A>G (p.Ile2061Val)
c.4204A>G (p.Ile1402Val)
c.2872A>G (p.Ile958Val)
c.6664A>G (p.Ile2222Val)
c.4684A>G (p.Ile1562Val)
c.6205A>G (p.Ile2069Val)
c.5422A>G (p.Ile1808Val)
c.6661A>G (p.Ile2221Val)
c.6385A>G (p.Ile2129Val)
c.6202A>G (p.Ile2068Val)
c.5926A>G (p.Ile1976Val)
c.5923A>G (p.Ile1975Val)
c.5443A>G (p.Ile1815Val)
c.5341A>G (p.Ile1781Val)
c.5338A>G (p.Ile1780Val)
c.4603A>G (p.Ile1535Val)
c.4600A>G (p.Ile1534Val)
c.4963A>G (p.Ile1655Val)
c.4882A>G (p.Ile1628Val)
c.4879A>G (p.Ile1627Val)
c.4687A>G (p.Ile1563Val)
12g.889200A>TCA383333304WNK1c.5425A>T (p.Ile1809Phe)
c.6181A>T (p.Ile2061Phe)
c.4204A>T (p.Ile1402Phe)
c.2872A>T (p.Ile958Phe)
c.6664A>T (p.Ile2222Phe)
c.4684A>T (p.Ile1562Phe)
c.6205A>T (p.Ile2069Phe)
c.5422A>T (p.Ile1808Phe)
c.6661A>T (p.Ile2221Phe)
c.6385A>T (p.Ile2129Phe)
c.6202A>T (p.Ile2068Phe)
c.5926A>T (p.Ile1976Phe)
c.5923A>T (p.Ile1975Phe)
c.5443A>T (p.Ile1815Phe)
c.5341A>T (p.Ile1781Phe)
c.5338A>T (p.Ile1780Phe)
c.4603A>T (p.Ile1535Phe)
c.4600A>T (p.Ile1534Phe)
c.4963A>T (p.Ile1655Phe)
c.4882A>T (p.Ile1628Phe)
c.4879A>T (p.Ile1627Phe)
c.4687A>T (p.Ile1563Phe)
12g.889201T>ACA383333305WNK1c.5426T>A (p.Ile1809Asn)
c.6182T>A (p.Ile2061Asn)
c.4205T>A (p.Ile1402Asn)
c.2873T>A (p.Ile958Asn)
c.6665T>A (p.Ile2222Asn)
c.4685T>A (p.Ile1562Asn)
c.6206T>A (p.Ile2069Asn)
c.5423T>A (p.Ile1808Asn)
c.6662T>A (p.Ile2221Asn)
c.6386T>A (p.Ile2129Asn)
c.6203T>A (p.Ile2068Asn)
c.5927T>A (p.Ile1976Asn)
c.5924T>A (p.Ile1975Asn)
c.5444T>A (p.Ile1815Asn)
c.5342T>A (p.Ile1781Asn)
c.5339T>A (p.Ile1780Asn)
c.4604T>A (p.Ile1535Asn)
c.4601T>A (p.Ile1534Asn)
c.4964T>A (p.Ile1655Asn)
c.4883T>A (p.Ile1628Asn)
c.4880T>A (p.Ile1627Asn)
c.4688T>A (p.Ile1563Asn)
gnomAD v4
12g.889201T>CCA383333306WNK1c.5426T>C (p.Ile1809Thr)
c.6182T>C (p.Ile2061Thr)
c.4205T>C (p.Ile1402Thr)
c.2873T>C (p.Ile958Thr)
c.6665T>C (p.Ile2222Thr)
c.4685T>C (p.Ile1562Thr)
c.6206T>C (p.Ile2069Thr)
c.5423T>C (p.Ile1808Thr)
c.6662T>C (p.Ile2221Thr)
c.6386T>C (p.Ile2129Thr)
c.6203T>C (p.Ile2068Thr)
c.5927T>C (p.Ile1976Thr)
c.5924T>C (p.Ile1975Thr)
c.5444T>C (p.Ile1815Thr)
c.5342T>C (p.Ile1781Thr)
c.5339T>C (p.Ile1780Thr)
c.4604T>C (p.Ile1535Thr)
c.4601T>C (p.Ile1534Thr)
c.4964T>C (p.Ile1655Thr)
c.4883T>C (p.Ile1628Thr)
c.4880T>C (p.Ile1627Thr)
c.4688T>C (p.Ile1563Thr)
12g.889201T>GCA383333307WNK1c.5426T>G (p.Ile1809Ser)
c.6182T>G (p.Ile2061Ser)
c.4205T>G (p.Ile1402Ser)
c.2873T>G (p.Ile958Ser)
c.6665T>G (p.Ile2222Ser)
c.4685T>G (p.Ile1562Ser)
c.6206T>G (p.Ile2069Ser)
c.5423T>G (p.Ile1808Ser)
c.6662T>G (p.Ile2221Ser)
c.6386T>G (p.Ile2129Ser)
c.6203T>G (p.Ile2068Ser)
c.5927T>G (p.Ile1976Ser)
c.5924T>G (p.Ile1975Ser)
c.5444T>G (p.Ile1815Ser)
c.5342T>G (p.Ile1781Ser)
c.5339T>G (p.Ile1780Ser)
c.4604T>G (p.Ile1535Ser)
c.4601T>G (p.Ile1534Ser)
c.4964T>G (p.Ile1655Ser)
c.4883T>G (p.Ile1628Ser)
c.4880T>G (p.Ile1627Ser)
c.4688T>G (p.Ile1563Ser)
12g.889202C>ACA477851804WNK1c.5427C>A (p.Ile1809=)
c.6183C>A (p.Ile2061=)
c.4206C>A (p.Ile1402=)
c.2874C>A (p.Ile958=)
c.6666C>A (p.Ile2222=)
c.4686C>A (p.Ile1562=)
c.6207C>A (p.Ile2069=)
c.5424C>A (p.Ile1808=)
c.6663C>A (p.Ile2221=)
c.6387C>A (p.Ile2129=)
c.6204C>A (p.Ile2068=)
c.5928C>A (p.Ile1976=)
c.5925C>A (p.Ile1975=)
c.5445C>A (p.Ile1815=)
c.5343C>A (p.Ile1781=)
c.5340C>A (p.Ile1780=)
c.4605C>A (p.Ile1535=)
c.4602C>A (p.Ile1534=)
c.4965C>A (p.Ile1655=)
c.4884C>A (p.Ile1628=)
c.4881C>A (p.Ile1627=)
c.4689C>A (p.Ile1563=)
12g.889202C>GCA383333308WNK1c.5427C>G (p.Ile1809Met)
c.6183C>G (p.Ile2061Met)
c.4206C>G (p.Ile1402Met)
c.2874C>G (p.Ile958Met)
c.6666C>G (p.Ile2222Met)
c.4686C>G (p.Ile1562Met)
c.6207C>G (p.Ile2069Met)
c.5424C>G (p.Ile1808Met)
c.6663C>G (p.Ile2221Met)
c.6387C>G (p.Ile2129Met)
c.6204C>G (p.Ile2068Met)
c.5928C>G (p.Ile1976Met)
c.5925C>G (p.Ile1975Met)
c.5445C>G (p.Ile1815Met)
c.5343C>G (p.Ile1781Met)
c.5340C>G (p.Ile1780Met)
c.4605C>G (p.Ile1535Met)
c.4602C>G (p.Ile1534Met)
c.4965C>G (p.Ile1655Met)
c.4884C>G (p.Ile1628Met)
c.4881C>G (p.Ile1627Met)
c.4689C>G (p.Ile1563Met)
12g.889202C>TCA477851806WNK1c.5427C>T (p.Ile1809=)
c.6183C>T (p.Ile2061=)
c.4206C>T (p.Ile1402=)
c.2874C>T (p.Ile958=)
c.6666C>T (p.Ile2222=)
c.4686C>T (p.Ile1562=)
c.6207C>T (p.Ile2069=)
c.5424C>T (p.Ile1808=)
c.6663C>T (p.Ile2221=)
c.6387C>T (p.Ile2129=)
c.6204C>T (p.Ile2068=)
c.5928C>T (p.Ile1976=)
c.5925C>T (p.Ile1975=)
c.5445C>T (p.Ile1815=)
c.5343C>T (p.Ile1781=)
c.5340C>T (p.Ile1780=)
c.4605C>T (p.Ile1535=)
c.4602C>T (p.Ile1534=)
c.4965C>T (p.Ile1655=)
c.4884C>T (p.Ile1628=)
c.4881C>T (p.Ile1627=)
c.4689C>T (p.Ile1563=)
12g.889203A>CCA383333310WNK1c.5428A>C (p.Thr1810Pro)
c.6184A>C (p.Thr2062Pro)
c.4207A>C (p.Thr1403Pro)
c.2875A>C (p.Thr959Pro)
c.6667A>C (p.Thr2223Pro)
c.4687A>C (p.Thr1563Pro)
c.6208A>C (p.Thr2070Pro)
c.5425A>C (p.Thr1809Pro)
c.6664A>C (p.Thr2222Pro)
c.6388A>C (p.Thr2130Pro)
c.6205A>C (p.Thr2069Pro)
c.5929A>C (p.Thr1977Pro)
c.5926A>C (p.Thr1976Pro)
c.5446A>C (p.Thr1816Pro)
c.5344A>C (p.Thr1782Pro)
c.5341A>C (p.Thr1781Pro)
c.4606A>C (p.Thr1536Pro)
c.4603A>C (p.Thr1535Pro)
c.4966A>C (p.Thr1656Pro)
c.4885A>C (p.Thr1629Pro)
c.4882A>C (p.Thr1628Pro)
c.4690A>C (p.Thr1564Pro)
12g.889203A>GCA383333309WNK1c.5428A>G (p.Thr1810Ala)
c.6184A>G (p.Thr2062Ala)
c.4207A>G (p.Thr1403Ala)
c.2875A>G (p.Thr959Ala)
c.6667A>G (p.Thr2223Ala)
c.4687A>G (p.Thr1563Ala)
c.6208A>G (p.Thr2070Ala)
c.5425A>G (p.Thr1809Ala)
c.6664A>G (p.Thr2222Ala)
c.6388A>G (p.Thr2130Ala)
c.6205A>G (p.Thr2069Ala)
c.5929A>G (p.Thr1977Ala)
c.5926A>G (p.Thr1976Ala)
c.5446A>G (p.Thr1816Ala)
c.5344A>G (p.Thr1782Ala)
c.5341A>G (p.Thr1781Ala)
c.4606A>G (p.Thr1536Ala)
c.4603A>G (p.Thr1535Ala)
c.4966A>G (p.Thr1656Ala)
c.4885A>G (p.Thr1629Ala)
c.4882A>G (p.Thr1628Ala)
c.4690A>G (p.Thr1564Ala)
12g.889203A>TCA383333311WNK1c.5428A>T (p.Thr1810Ser)
c.6184A>T (p.Thr2062Ser)
c.4207A>T (p.Thr1403Ser)
c.2875A>T (p.Thr959Ser)
c.6667A>T (p.Thr2223Ser)
c.4687A>T (p.Thr1563Ser)
c.6208A>T (p.Thr2070Ser)
c.5425A>T (p.Thr1809Ser)
c.6664A>T (p.Thr2222Ser)
c.6388A>T (p.Thr2130Ser)
c.6205A>T (p.Thr2069Ser)
c.5929A>T (p.Thr1977Ser)
c.5926A>T (p.Thr1976Ser)
c.5446A>T (p.Thr1816Ser)
c.5344A>T (p.Thr1782Ser)
c.5341A>T (p.Thr1781Ser)
c.4606A>T (p.Thr1536Ser)
c.4603A>T (p.Thr1535Ser)
c.4966A>T (p.Thr1656Ser)
c.4885A>T (p.Thr1629Ser)
c.4882A>T (p.Thr1628Ser)
c.4690A>T (p.Thr1564Ser)
12g.889204C>ACA383333312WNK1c.5429C>A (p.Thr1810Lys)
c.6185C>A (p.Thr2062Lys)
c.4208C>A (p.Thr1403Lys)
c.2876C>A (p.Thr959Lys)
c.6668C>A (p.Thr2223Lys)
c.4688C>A (p.Thr1563Lys)
c.6209C>A (p.Thr2070Lys)
c.5426C>A (p.Thr1809Lys)
c.6665C>A (p.Thr2222Lys)
c.6389C>A (p.Thr2130Lys)
c.6206C>A (p.Thr2069Lys)
c.5930C>A (p.Thr1977Lys)
c.5927C>A (p.Thr1976Lys)
c.5447C>A (p.Thr1816Lys)
c.5345C>A (p.Thr1782Lys)
c.5342C>A (p.Thr1781Lys)
c.4607C>A (p.Thr1536Lys)
c.4604C>A (p.Thr1535Lys)
c.4967C>A (p.Thr1656Lys)
c.4886C>A (p.Thr1629Lys)
c.4883C>A (p.Thr1628Lys)
c.4691C>A (p.Thr1564Lys)
12g.889204C=CA2011734410WNK1c.5429C= (p.Thr1810=)
c.6185C= (p.Thr2062=)
c.4208C= (p.Thr1403=)
c.2876C= (p.Thr959=)
c.6668C= (p.Thr2223=)
c.4688C= (p.Thr1563=)
c.6209C= (p.Thr2070=)
c.5426C= (p.Thr1809=)
c.6665C= (p.Thr2222=)
c.6389C= (p.Thr2130=)
c.6206C= (p.Thr2069=)
c.5930C= (p.Thr1977=)
c.5927C= (p.Thr1976=)
c.5447C= (p.Thr1816=)
c.5345C= (p.Thr1782=)
c.5342C= (p.Thr1781=)
c.4607C= (p.Thr1536=)
c.4604C= (p.Thr1535=)
c.4967C= (p.Thr1656=)
c.4886C= (p.Thr1629=)
c.4883C= (p.Thr1628=)
c.4691C= (p.Thr1564=)
12g.889204C>GCA231482380WNK1c.5429C>G (p.Thr1810Arg)
c.6185C>G (p.Thr2062Arg)
c.4208C>G (p.Thr1403Arg)
c.2876C>G (p.Thr959Arg)
c.6668C>G (p.Thr2223Arg)
c.4688C>G (p.Thr1563Arg)
c.6209C>G (p.Thr2070Arg)
c.5426C>G (p.Thr1809Arg)
c.6665C>G (p.Thr2222Arg)
c.6389C>G (p.Thr2130Arg)
c.6206C>G (p.Thr2069Arg)
c.5930C>G (p.Thr1977Arg)
c.5927C>G (p.Thr1976Arg)
c.5447C>G (p.Thr1816Arg)
c.5345C>G (p.Thr1782Arg)
c.5342C>G (p.Thr1781Arg)
c.4607C>G (p.Thr1536Arg)
c.4604C>G (p.Thr1535Arg)
c.4967C>G (p.Thr1656Arg)
c.4886C>G (p.Thr1629Arg)
c.4883C>G (p.Thr1628Arg)
c.4691C>G (p.Thr1564Arg)
dbSNP gnomAD v4
12g.889204C>TCA383333313WNK1c.5429C>T (p.Thr1810Ile)
c.6185C>T (p.Thr2062Ile)
c.4208C>T (p.Thr1403Ile)
c.2876C>T (p.Thr959Ile)
c.6668C>T (p.Thr2223Ile)
c.4688C>T (p.Thr1563Ile)
c.6209C>T (p.Thr2070Ile)
c.5426C>T (p.Thr1809Ile)
c.6665C>T (p.Thr2222Ile)
c.6389C>T (p.Thr2130Ile)
c.6206C>T (p.Thr2069Ile)
c.5930C>T (p.Thr1977Ile)
c.5927C>T (p.Thr1976Ile)
c.5447C>T (p.Thr1816Ile)
c.5345C>T (p.Thr1782Ile)
c.5342C>T (p.Thr1781Ile)
c.4607C>T (p.Thr1536Ile)
c.4604C>T (p.Thr1535Ile)
c.4967C>T (p.Thr1656Ile)
c.4886C>T (p.Thr1629Ile)
c.4883C>T (p.Thr1628Ile)
c.4691C>T (p.Thr1564Ile)
12g.889205A>CCA477851807WNK1c.5430A>C (p.Thr1810=)
c.6186A>C (p.Thr2062=)
c.4209A>C (p.Thr1403=)
c.2877A>C (p.Thr959=)
c.6669A>C (p.Thr2223=)
c.4689A>C (p.Thr1563=)
c.6210A>C (p.Thr2070=)
c.5427A>C (p.Thr1809=)
c.6666A>C (p.Thr2222=)
c.6390A>C (p.Thr2130=)
c.6207A>C (p.Thr2069=)
c.5931A>C (p.Thr1977=)
c.5928A>C (p.Thr1976=)
c.5448A>C (p.Thr1816=)
c.5346A>C (p.Thr1782=)
c.5343A>C (p.Thr1781=)
c.4608A>C (p.Thr1536=)
c.4605A>C (p.Thr1535=)
c.4968A>C (p.Thr1656=)
c.4887A>C (p.Thr1629=)
c.4884A>C (p.Thr1628=)
c.4692A>C (p.Thr1564=)
12g.889205A>GCA477851809WNK1c.5430A>G (p.Thr1810=)
c.6186A>G (p.Thr2062=)
c.4209A>G (p.Thr1403=)
c.2877A>G (p.Thr959=)
c.6669A>G (p.Thr2223=)
c.4689A>G (p.Thr1563=)
c.6210A>G (p.Thr2070=)
c.5427A>G (p.Thr1809=)
c.6666A>G (p.Thr2222=)
c.6390A>G (p.Thr2130=)
c.6207A>G (p.Thr2069=)
c.5931A>G (p.Thr1977=)
c.5928A>G (p.Thr1976=)
c.5448A>G (p.Thr1816=)
c.5346A>G (p.Thr1782=)
c.5343A>G (p.Thr1781=)
c.4608A>G (p.Thr1536=)
c.4605A>G (p.Thr1535=)
c.4968A>G (p.Thr1656=)
c.4887A>G (p.Thr1629=)
c.4884A>G (p.Thr1628=)
c.4692A>G (p.Thr1564=)
COSMIC COSMIC COSMIC
12g.889205A>TCA477851808WNK1c.5430A>T (p.Thr1810=)
c.6186A>T (p.Thr2062=)
c.4209A>T (p.Thr1403=)
c.2877A>T (p.Thr959=)
c.6669A>T (p.Thr2223=)
c.4689A>T (p.Thr1563=)
c.6210A>T (p.Thr2070=)
c.5427A>T (p.Thr1809=)
c.6666A>T (p.Thr2222=)
c.6390A>T (p.Thr2130=)
c.6207A>T (p.Thr2069=)
c.5931A>T (p.Thr1977=)
c.5928A>T (p.Thr1976=)
c.5448A>T (p.Thr1816=)
c.5346A>T (p.Thr1782=)
c.5343A>T (p.Thr1781=)
c.4608A>T (p.Thr1536=)
c.4605A>T (p.Thr1535=)
c.4968A>T (p.Thr1656=)
c.4887A>T (p.Thr1629=)
c.4884A>T (p.Thr1628=)
c.4692A>T (p.Thr1564=)
12g.889206G>ACA231482392WNK1c.5431G>A (p.Val1811Met)
c.6187G>A (p.Val2063Met)
c.4210G>A (p.Val1404Met)
c.2878G>A (p.Val960Met)
c.6670G>A (p.Val2224Met)
c.4690G>A (p.Val1564Met)
c.6211G>A (p.Val2071Met)
c.5428G>A (p.Val1810Met)
c.6667G>A (p.Val2223Met)
c.6391G>A (p.Val2131Met)
c.6208G>A (p.Val2070Met)
c.5932G>A (p.Val1978Met)
c.5929G>A (p.Val1977Met)
c.5449G>A (p.Val1817Met)
c.5347G>A (p.Val1783Met)
c.5344G>A (p.Val1782Met)
c.4609G>A (p.Val1537Met)
c.4606G>A (p.Val1536Met)
c.4969G>A (p.Val1657Met)
c.4888G>A (p.Val1630Met)
c.4885G>A (p.Val1629Met)
c.4693G>A (p.Val1565Met)
dbSNP gnomAD v2 gnomAD v4
12g.889206G>CCA383333315WNK1c.5431G>C (p.Val1811Leu)
c.6187G>C (p.Val2063Leu)
c.4210G>C (p.Val1404Leu)
c.2878G>C (p.Val960Leu)
c.6670G>C (p.Val2224Leu)
c.4690G>C (p.Val1564Leu)
c.6211G>C (p.Val2071Leu)
c.5428G>C (p.Val1810Leu)
c.6667G>C (p.Val2223Leu)
c.6391G>C (p.Val2131Leu)
c.6208G>C (p.Val2070Leu)
c.5932G>C (p.Val1978Leu)
c.5929G>C (p.Val1977Leu)
c.5449G>C (p.Val1817Leu)
c.5347G>C (p.Val1783Leu)
c.5344G>C (p.Val1782Leu)
c.4609G>C (p.Val1537Leu)
c.4606G>C (p.Val1536Leu)
c.4969G>C (p.Val1657Leu)
c.4888G>C (p.Val1630Leu)
c.4885G>C (p.Val1629Leu)
c.4693G>C (p.Val1565Leu)
12g.889206G=CA2011734412WNK1c.5431G= (p.Val1811=)
c.6187G= (p.Val2063=)
c.4210G= (p.Val1404=)
c.2878G= (p.Val960=)
c.6670G= (p.Val2224=)
c.4690G= (p.Val1564=)
c.6211G= (p.Val2071=)
c.5428G= (p.Val1810=)
c.6667G= (p.Val2223=)
c.6391G= (p.Val2131=)
c.6208G= (p.Val2070=)
c.5932G= (p.Val1978=)
c.5929G= (p.Val1977=)
c.5449G= (p.Val1817=)
c.5347G= (p.Val1783=)
c.5344G= (p.Val1782=)
c.4609G= (p.Val1537=)
c.4606G= (p.Val1536=)
c.4969G= (p.Val1657=)
c.4888G= (p.Val1630=)
c.4885G= (p.Val1629=)
c.4693G= (p.Val1565=)
12g.889206G>TCA383333314WNK1c.5431G>T (p.Val1811Leu)
c.6187G>T (p.Val2063Leu)
c.4210G>T (p.Val1404Leu)
c.2878G>T (p.Val960Leu)
c.6670G>T (p.Val2224Leu)
c.4690G>T (p.Val1564Leu)
c.6211G>T (p.Val2071Leu)
c.5428G>T (p.Val1810Leu)
c.6667G>T (p.Val2223Leu)
c.6391G>T (p.Val2131Leu)
c.6208G>T (p.Val2070Leu)
c.5932G>T (p.Val1978Leu)
c.5929G>T (p.Val1977Leu)
c.5449G>T (p.Val1817Leu)
c.5347G>T (p.Val1783Leu)
c.5344G>T (p.Val1782Leu)
c.4609G>T (p.Val1537Leu)
c.4606G>T (p.Val1536Leu)
c.4969G>T (p.Val1657Leu)
c.4888G>T (p.Val1630Leu)
c.4885G>T (p.Val1629Leu)
c.4693G>T (p.Val1565Leu)
gnomAD v4
12g.889207T>ACA383333316WNK1c.5432T>A (p.Val1811Glu)
c.6188T>A (p.Val2063Glu)
c.4211T>A (p.Val1404Glu)
c.2879T>A (p.Val960Glu)
c.6671T>A (p.Val2224Glu)
c.4691T>A (p.Val1564Glu)
c.6212T>A (p.Val2071Glu)
c.5429T>A (p.Val1810Glu)
c.6668T>A (p.Val2223Glu)
c.6392T>A (p.Val2131Glu)
c.6209T>A (p.Val2070Glu)
c.5933T>A (p.Val1978Glu)
c.5930T>A (p.Val1977Glu)
c.5450T>A (p.Val1817Glu)
c.5348T>A (p.Val1783Glu)
c.5345T>A (p.Val1782Glu)
c.4610T>A (p.Val1537Glu)
c.4607T>A (p.Val1536Glu)
c.4970T>A (p.Val1657Glu)
c.4889T>A (p.Val1630Glu)
c.4886T>A (p.Val1629Glu)
c.4694T>A (p.Val1565Glu)
12g.889207T>CCA383333318WNK1c.5432T>C (p.Val1811Ala)
c.6188T>C (p.Val2063Ala)
c.4211T>C (p.Val1404Ala)
c.2879T>C (p.Val960Ala)
c.6671T>C (p.Val2224Ala)
c.4691T>C (p.Val1564Ala)
c.6212T>C (p.Val2071Ala)
c.5429T>C (p.Val1810Ala)
c.6668T>C (p.Val2223Ala)
c.6392T>C (p.Val2131Ala)
c.6209T>C (p.Val2070Ala)
c.5933T>C (p.Val1978Ala)
c.5930T>C (p.Val1977Ala)
c.5450T>C (p.Val1817Ala)
c.5348T>C (p.Val1783Ala)
c.5345T>C (p.Val1782Ala)
c.4610T>C (p.Val1537Ala)
c.4607T>C (p.Val1536Ala)
c.4970T>C (p.Val1657Ala)
c.4889T>C (p.Val1630Ala)
c.4886T>C (p.Val1629Ala)
c.4694T>C (p.Val1565Ala)
12g.889207T>GCA383333317WNK1c.5432T>G (p.Val1811Gly)
c.6188T>G (p.Val2063Gly)
c.4211T>G (p.Val1404Gly)
c.2879T>G (p.Val960Gly)
c.6671T>G (p.Val2224Gly)
c.4691T>G (p.Val1564Gly)
c.6212T>G (p.Val2071Gly)
c.5429T>G (p.Val1810Gly)
c.6668T>G (p.Val2223Gly)
c.6392T>G (p.Val2131Gly)
c.6209T>G (p.Val2070Gly)
c.5933T>G (p.Val1978Gly)
c.5930T>G (p.Val1977Gly)
c.5450T>G (p.Val1817Gly)
c.5348T>G (p.Val1783Gly)
c.5345T>G (p.Val1782Gly)
c.4610T>G (p.Val1537Gly)
c.4607T>G (p.Val1536Gly)
c.4970T>G (p.Val1657Gly)
c.4889T>G (p.Val1630Gly)
c.4886T>G (p.Val1629Gly)
c.4694T>G (p.Val1565Gly)
12g.889208G>ACA477851810WNK1c.5433G>A (p.Val1811=)
c.6189G>A (p.Val2063=)
c.4212G>A (p.Val1404=)
c.2880G>A (p.Val960=)
c.6672G>A (p.Val2224=)
c.4692G>A (p.Val1564=)
c.6213G>A (p.Val2071=)
c.5430G>A (p.Val1810=)
c.6669G>A (p.Val2223=)
c.6393G>A (p.Val2131=)
c.6210G>A (p.Val2070=)
c.5934G>A (p.Val1978=)
c.5931G>A (p.Val1977=)
c.5451G>A (p.Val1817=)
c.5349G>A (p.Val1783=)
c.5346G>A (p.Val1782=)
c.4611G>A (p.Val1537=)
c.4608G>A (p.Val1536=)
c.4971G>A (p.Val1657=)
c.4890G>A (p.Val1630=)
c.4887G>A (p.Val1629=)
c.4695G>A (p.Val1565=)
12g.889208G>CCA477851812WNK1c.5433G>C (p.Val1811=)
c.6189G>C (p.Val2063=)
c.4212G>C (p.Val1404=)
c.2880G>C (p.Val960=)
c.6672G>C (p.Val2224=)
c.4692G>C (p.Val1564=)
c.6213G>C (p.Val2071=)
c.5430G>C (p.Val1810=)
c.6669G>C (p.Val2223=)
c.6393G>C (p.Val2131=)
c.6210G>C (p.Val2070=)
c.5934G>C (p.Val1978=)
c.5931G>C (p.Val1977=)
c.5451G>C (p.Val1817=)
c.5349G>C (p.Val1783=)
c.5346G>C (p.Val1782=)
c.4611G>C (p.Val1537=)
c.4608G>C (p.Val1536=)
c.4971G>C (p.Val1657=)
c.4890G>C (p.Val1630=)
c.4887G>C (p.Val1629=)
c.4695G>C (p.Val1565=)
12g.889208G>TCA477851813WNK1c.5433G>T (p.Val1811=)
c.6189G>T (p.Val2063=)
c.4212G>T (p.Val1404=)
c.2880G>T (p.Val960=)
c.6672G>T (p.Val2224=)
c.4692G>T (p.Val1564=)
c.6213G>T (p.Val2071=)
c.5430G>T (p.Val1810=)
c.6669G>T (p.Val2223=)
c.6393G>T (p.Val2131=)
c.6210G>T (p.Val2070=)
c.5934G>T (p.Val1978=)
c.5931G>T (p.Val1977=)
c.5451G>T (p.Val1817=)
c.5349G>T (p.Val1783=)
c.5346G>T (p.Val1782=)
c.4611G>T (p.Val1537=)
c.4608G>T (p.Val1536=)
c.4971G>T (p.Val1657=)
c.4890G>T (p.Val1630=)
c.4887G>T (p.Val1629=)
c.4695G>T (p.Val1565=)
12g.889209A=CA2011734415WNK1c.5434A= (p.Thr1812=)
c.6190A= (p.Thr2064=)
c.4213A= (p.Thr1405=)
c.2881A= (p.Thr961=)
c.6673A= (p.Thr2225=)
c.4693A= (p.Thr1565=)
c.6214A= (p.Thr2072=)
c.5431A= (p.Thr1811=)
c.6670A= (p.Thr2224=)
c.6394A= (p.Thr2132=)
c.6211A= (p.Thr2071=)
c.5935A= (p.Thr1979=)
c.5932A= (p.Thr1978=)
c.5452A= (p.Thr1818=)
c.5350A= (p.Thr1784=)
c.5347A= (p.Thr1783=)
c.4612A= (p.Thr1538=)
c.4609A= (p.Thr1537=)
c.4972A= (p.Thr1658=)
c.4891A= (p.Thr1631=)
c.4888A= (p.Thr1630=)
c.4696A= (p.Thr1566=)
12g.889209A>CCA383333319WNK1c.5434A>C (p.Thr1812Pro)
c.6190A>C (p.Thr2064Pro)
c.4213A>C (p.Thr1405Pro)
c.2881A>C (p.Thr961Pro)
c.6673A>C (p.Thr2225Pro)
c.4693A>C (p.Thr1565Pro)
c.6214A>C (p.Thr2072Pro)
c.5431A>C (p.Thr1811Pro)
c.6670A>C (p.Thr2224Pro)
c.6394A>C (p.Thr2132Pro)
c.6211A>C (p.Thr2071Pro)
c.5935A>C (p.Thr1979Pro)
c.5932A>C (p.Thr1978Pro)
c.5452A>C (p.Thr1818Pro)
c.5350A>C (p.Thr1784Pro)
c.5347A>C (p.Thr1783Pro)
c.4612A>C (p.Thr1538Pro)
c.4609A>C (p.Thr1537Pro)
c.4972A>C (p.Thr1658Pro)
c.4891A>C (p.Thr1631Pro)
c.4888A>C (p.Thr1630Pro)
c.4696A>C (p.Thr1566Pro)
12g.889209A>GCA383333320WNK1c.5434A>G (p.Thr1812Ala)
c.6190A>G (p.Thr2064Ala)
c.4213A>G (p.Thr1405Ala)
c.2881A>G (p.Thr961Ala)
c.6673A>G (p.Thr2225Ala)
c.4693A>G (p.Thr1565Ala)
c.6214A>G (p.Thr2072Ala)
c.5431A>G (p.Thr1811Ala)
c.6670A>G (p.Thr2224Ala)
c.6394A>G (p.Thr2132Ala)
c.6211A>G (p.Thr2071Ala)
c.5935A>G (p.Thr1979Ala)
c.5932A>G (p.Thr1978Ala)
c.5452A>G (p.Thr1818Ala)
c.5350A>G (p.Thr1784Ala)
c.5347A>G (p.Thr1783Ala)
c.4612A>G (p.Thr1538Ala)
c.4609A>G (p.Thr1537Ala)
c.4972A>G (p.Thr1658Ala)
c.4891A>G (p.Thr1631Ala)
c.4888A>G (p.Thr1630Ala)
c.4696A>G (p.Thr1566Ala)
12g.889209A>TCA6383168WNK1c.5434A>T (p.Thr1812Ser)
c.6190A>T (p.Thr2064Ser)
c.4213A>T (p.Thr1405Ser)
c.2881A>T (p.Thr961Ser)
c.6673A>T (p.Thr2225Ser)
c.4693A>T (p.Thr1565Ser)
c.6214A>T (p.Thr2072Ser)
c.5431A>T (p.Thr1811Ser)
c.6670A>T (p.Thr2224Ser)
c.6394A>T (p.Thr2132Ser)
c.6211A>T (p.Thr2071Ser)
c.5935A>T (p.Thr1979Ser)
c.5932A>T (p.Thr1978Ser)
c.5452A>T (p.Thr1818Ser)
c.5350A>T (p.Thr1784Ser)
c.5347A>T (p.Thr1783Ser)
c.4612A>T (p.Thr1538Ser)
c.4609A>T (p.Thr1537Ser)
c.4972A>T (p.Thr1658Ser)
c.4891A>T (p.Thr1631Ser)
c.4888A>T (p.Thr1630Ser)
c.4696A>T (p.Thr1566Ser)
dbSNP ExAC
12g.889210C>ACA383333321WNK1c.5435C>A (p.Thr1812Asn)
c.6191C>A (p.Thr2064Asn)
c.4214C>A (p.Thr1405Asn)
c.2882C>A (p.Thr961Asn)
c.6674C>A (p.Thr2225Asn)
c.4694C>A (p.Thr1565Asn)
c.6215C>A (p.Thr2072Asn)
c.5432C>A (p.Thr1811Asn)
c.6671C>A (p.Thr2224Asn)
c.6395C>A (p.Thr2132Asn)
c.6212C>A (p.Thr2071Asn)
c.5936C>A (p.Thr1979Asn)
c.5933C>A (p.Thr1978Asn)
c.5453C>A (p.Thr1818Asn)
c.5351C>A (p.Thr1784Asn)
c.5348C>A (p.Thr1783Asn)
c.4613C>A (p.Thr1538Asn)
c.4610C>A (p.Thr1537Asn)
c.4973C>A (p.Thr1658Asn)
c.4892C>A (p.Thr1631Asn)
c.4889C>A (p.Thr1630Asn)
c.4697C>A (p.Thr1566Asn)
12g.889210C=CA2011734417WNK1c.5435C= (p.Thr1812=)
c.6191C= (p.Thr2064=)
c.4214C= (p.Thr1405=)
c.2882C= (p.Thr961=)
c.6674C= (p.Thr2225=)
c.4694C= (p.Thr1565=)
c.6215C= (p.Thr2072=)
c.5432C= (p.Thr1811=)
c.6671C= (p.Thr2224=)
c.6395C= (p.Thr2132=)
c.6212C= (p.Thr2071=)
c.5936C= (p.Thr1979=)
c.5933C= (p.Thr1978=)
c.5453C= (p.Thr1818=)
c.5351C= (p.Thr1784=)
c.5348C= (p.Thr1783=)
c.4613C= (p.Thr1538=)
c.4610C= (p.Thr1537=)
c.4973C= (p.Thr1658=)
c.4892C= (p.Thr1631=)
c.4889C= (p.Thr1630=)
c.4697C= (p.Thr1566=)
12g.889210C>GCA383333322WNK1c.5435C>G (p.Thr1812Ser)
c.6191C>G (p.Thr2064Ser)
c.4214C>G (p.Thr1405Ser)
c.2882C>G (p.Thr961Ser)
c.6674C>G (p.Thr2225Ser)
c.4694C>G (p.Thr1565Ser)
c.6215C>G (p.Thr2072Ser)
c.5432C>G (p.Thr1811Ser)
c.6671C>G (p.Thr2224Ser)
c.6395C>G (p.Thr2132Ser)
c.6212C>G (p.Thr2071Ser)
c.5936C>G (p.Thr1979Ser)
c.5933C>G (p.Thr1978Ser)
c.5453C>G (p.Thr1818Ser)
c.5351C>G (p.Thr1784Ser)
c.5348C>G (p.Thr1783Ser)
c.4613C>G (p.Thr1538Ser)
c.4610C>G (p.Thr1537Ser)
c.4973C>G (p.Thr1658Ser)
c.4892C>G (p.Thr1631Ser)
c.4889C>G (p.Thr1630Ser)
c.4697C>G (p.Thr1566Ser)
gnomAD v4
12g.889210C>TCA383333323WNK1c.5435C>T (p.Thr1812Ile)
c.6191C>T (p.Thr2064Ile)
c.4214C>T (p.Thr1405Ile)
c.2882C>T (p.Thr961Ile)
c.6674C>T (p.Thr2225Ile)
c.4694C>T (p.Thr1565Ile)
c.6215C>T (p.Thr2072Ile)
c.5432C>T (p.Thr1811Ile)
c.6671C>T (p.Thr2224Ile)
c.6395C>T (p.Thr2132Ile)
c.6212C>T (p.Thr2071Ile)
c.5936C>T (p.Thr1979Ile)
c.5933C>T (p.Thr1978Ile)
c.5453C>T (p.Thr1818Ile)
c.5351C>T (p.Thr1784Ile)
c.5348C>T (p.Thr1783Ile)
c.4613C>T (p.Thr1538Ile)
c.4610C>T (p.Thr1537Ile)
c.4973C>T (p.Thr1658Ile)
c.4892C>T (p.Thr1631Ile)
c.4889C>T (p.Thr1630Ile)
c.4697C>T (p.Thr1566Ile)
dbSNP gnomAD v2 gnomAD v4
12g.889211T>ACA477851814WNK1c.5436T>A (p.Thr1812=)
c.6192T>A (p.Thr2064=)
c.4215T>A (p.Thr1405=)
c.2883T>A (p.Thr961=)
c.6675T>A (p.Thr2225=)
c.4695T>A (p.Thr1565=)
c.6216T>A (p.Thr2072=)
c.5433T>A (p.Thr1811=)
c.6672T>A (p.Thr2224=)
c.6396T>A (p.Thr2132=)
c.6213T>A (p.Thr2071=)
c.5937T>A (p.Thr1979=)
c.5934T>A (p.Thr1978=)
c.5454T>A (p.Thr1818=)
c.5352T>A (p.Thr1784=)
c.5349T>A (p.Thr1783=)
c.4614T>A (p.Thr1538=)
c.4611T>A (p.Thr1537=)
c.4974T>A (p.Thr1658=)
c.4893T>A (p.Thr1631=)
c.4890T>A (p.Thr1630=)
c.4698T>A (p.Thr1566=)
12g.889211T>CCA477851815WNK1c.5436T>C (p.Thr1812=)
c.6192T>C (p.Thr2064=)
c.4215T>C (p.Thr1405=)
c.2883T>C (p.Thr961=)
c.6675T>C (p.Thr2225=)
c.4695T>C (p.Thr1565=)
c.6216T>C (p.Thr2072=)
c.5433T>C (p.Thr1811=)
c.6672T>C (p.Thr2224=)
c.6396T>C (p.Thr2132=)
c.6213T>C (p.Thr2071=)
c.5937T>C (p.Thr1979=)
c.5934T>C (p.Thr1978=)
c.5454T>C (p.Thr1818=)
c.5352T>C (p.Thr1784=)
c.5349T>C (p.Thr1783=)
c.4614T>C (p.Thr1538=)
c.4611T>C (p.Thr1537=)
c.4974T>C (p.Thr1658=)
c.4893T>C (p.Thr1631=)
c.4890T>C (p.Thr1630=)
c.4698T>C (p.Thr1566=)
12g.889211T>GCA477851816WNK1c.5436T>G (p.Thr1812=)
c.6192T>G (p.Thr2064=)
c.4215T>G (p.Thr1405=)
c.2883T>G (p.Thr961=)
c.6675T>G (p.Thr2225=)
c.4695T>G (p.Thr1565=)
c.6216T>G (p.Thr2072=)
c.5433T>G (p.Thr1811=)
c.6672T>G (p.Thr2224=)
c.6396T>G (p.Thr2132=)
c.6213T>G (p.Thr2071=)
c.5937T>G (p.Thr1979=)
c.5934T>G (p.Thr1978=)
c.5454T>G (p.Thr1818=)
c.5352T>G (p.Thr1784=)
c.5349T>G (p.Thr1783=)
c.4614T>G (p.Thr1538=)
c.4611T>G (p.Thr1537=)
c.4974T>G (p.Thr1658=)
c.4893T>G (p.Thr1631=)
c.4890T>G (p.Thr1630=)
c.4698T>G (p.Thr1566=)
dbSNP
12g.889211T=CA2011734420WNK1c.5436T= (p.Thr1812=)
c.6192T= (p.Thr2064=)
c.4215T= (p.Thr1405=)
c.2883T= (p.Thr961=)
c.6675T= (p.Thr2225=)
c.4695T= (p.Thr1565=)
c.6216T= (p.Thr2072=)
c.5433T= (p.Thr1811=)
c.6672T= (p.Thr2224=)
c.6396T= (p.Thr2132=)
c.6213T= (p.Thr2071=)
c.5937T= (p.Thr1979=)
c.5934T= (p.Thr1978=)
c.5454T= (p.Thr1818=)
c.5352T= (p.Thr1784=)
c.5349T= (p.Thr1783=)
c.4614T= (p.Thr1538=)
c.4611T= (p.Thr1537=)
c.4974T= (p.Thr1658=)
c.4893T= (p.Thr1631=)
c.4890T= (p.Thr1630=)
c.4698T= (p.Thr1566=)
12g.889212T>ACA383333324WNK1c.5437T>A (p.Ser1813Thr)
c.6193T>A (p.Ser2065Thr)
c.4216T>A (p.Ser1406Thr)
c.2884T>A (p.Ser962Thr)
c.6676T>A (p.Ser2226Thr)
c.4696T>A (p.Ser1566Thr)
c.6217T>A (p.Ser2073Thr)
c.5434T>A (p.Ser1812Thr)
c.6673T>A (p.Ser2225Thr)
c.6397T>A (p.Ser2133Thr)
c.6214T>A (p.Ser2072Thr)
c.5938T>A (p.Ser1980Thr)
c.5935T>A (p.Ser1979Thr)
c.5455T>A (p.Ser1819Thr)
c.5353T>A (p.Ser1785Thr)
c.5350T>A (p.Ser1784Thr)
c.4615T>A (p.Ser1539Thr)
c.4612T>A (p.Ser1538Thr)
c.4975T>A (p.Ser1659Thr)
c.4894T>A (p.Ser1632Thr)
c.4891T>A (p.Ser1631Thr)
c.4699T>A (p.Ser1567Thr)
12g.889212T>CCA383333325WNK1c.5437T>C (p.Ser1813Pro)
c.6193T>C (p.Ser2065Pro)
c.4216T>C (p.Ser1406Pro)
c.2884T>C (p.Ser962Pro)
c.6676T>C (p.Ser2226Pro)
c.4696T>C (p.Ser1566Pro)
c.6217T>C (p.Ser2073Pro)
c.5434T>C (p.Ser1812Pro)
c.6673T>C (p.Ser2225Pro)
c.6397T>C (p.Ser2133Pro)
c.6214T>C (p.Ser2072Pro)
c.5938T>C (p.Ser1980Pro)
c.5935T>C (p.Ser1979Pro)
c.5455T>C (p.Ser1819Pro)
c.5353T>C (p.Ser1785Pro)
c.5350T>C (p.Ser1784Pro)
c.4615T>C (p.Ser1539Pro)
c.4612T>C (p.Ser1538Pro)
c.4975T>C (p.Ser1659Pro)
c.4894T>C (p.Ser1632Pro)
c.4891T>C (p.Ser1631Pro)
c.4699T>C (p.Ser1567Pro)
12g.889212T>GCA383333326WNK1c.5437T>G (p.Ser1813Ala)
c.6193T>G (p.Ser2065Ala)
c.4216T>G (p.Ser1406Ala)
c.2884T>G (p.Ser962Ala)
c.6676T>G (p.Ser2226Ala)
c.4696T>G (p.Ser1566Ala)
c.6217T>G (p.Ser2073Ala)
c.5434T>G (p.Ser1812Ala)
c.6673T>G (p.Ser2225Ala)
c.6397T>G (p.Ser2133Ala)
c.6214T>G (p.Ser2072Ala)
c.5938T>G (p.Ser1980Ala)
c.5935T>G (p.Ser1979Ala)
c.5455T>G (p.Ser1819Ala)
c.5353T>G (p.Ser1785Ala)
c.5350T>G (p.Ser1784Ala)
c.4615T>G (p.Ser1539Ala)
c.4612T>G (p.Ser1538Ala)
c.4975T>G (p.Ser1659Ala)
c.4894T>G (p.Ser1632Ala)
c.4891T>G (p.Ser1631Ala)
c.4699T>G (p.Ser1567Ala)
12g.889213C>ACA383333327WNK1c.5438C>A (p.Ser1813Tyr)
c.6194C>A (p.Ser2065Tyr)
c.4217C>A (p.Ser1406Tyr)
c.2885C>A (p.Ser962Tyr)
c.6677C>A (p.Ser2226Tyr)
c.4697C>A (p.Ser1566Tyr)
c.6218C>A (p.Ser2073Tyr)
c.5435C>A (p.Ser1812Tyr)
c.6674C>A (p.Ser2225Tyr)
c.6398C>A (p.Ser2133Tyr)
c.6215C>A (p.Ser2072Tyr)
c.5939C>A (p.Ser1980Tyr)
c.5936C>A (p.Ser1979Tyr)
c.5456C>A (p.Ser1819Tyr)
c.5354C>A (p.Ser1785Tyr)
c.5351C>A (p.Ser1784Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4976C>A (p.Ser1659Tyr)
c.4895C>A (p.Ser1632Tyr)
c.4892C>A (p.Ser1631Tyr)
c.4700C>A (p.Ser1567Tyr)
12g.889213C=CA2011734423WNK1c.5438C= (p.Ser1813=)
c.6194C= (p.Ser2065=)
c.4217C= (p.Ser1406=)
c.2885C= (p.Ser962=)
c.6677C= (p.Ser2226=)
c.4697C= (p.Ser1566=)
c.6218C= (p.Ser2073=)
c.5435C= (p.Ser1812=)
c.6674C= (p.Ser2225=)
c.6398C= (p.Ser2133=)
c.6215C= (p.Ser2072=)
c.5939C= (p.Ser1980=)
c.5936C= (p.Ser1979=)
c.5456C= (p.Ser1819=)
c.5354C= (p.Ser1785=)
c.5351C= (p.Ser1784=)
c.4616C= (p.Ser1539=)
c.4613C= (p.Ser1538=)
c.4976C= (p.Ser1659=)
c.4895C= (p.Ser1632=)
c.4892C= (p.Ser1631=)
c.4700C= (p.Ser1567=)
12g.889213C>GCA383333328WNK1c.5438C>G (p.Ser1813Cys)
c.6194C>G (p.Ser2065Cys)
c.4217C>G (p.Ser1406Cys)
c.2885C>G (p.Ser962Cys)
c.6677C>G (p.Ser2226Cys)
c.4697C>G (p.Ser1566Cys)
c.6218C>G (p.Ser2073Cys)
c.5435C>G (p.Ser1812Cys)
c.6674C>G (p.Ser2225Cys)
c.6398C>G (p.Ser2133Cys)
c.6215C>G (p.Ser2072Cys)
c.5939C>G (p.Ser1980Cys)
c.5936C>G (p.Ser1979Cys)
c.5456C>G (p.Ser1819Cys)
c.5354C>G (p.Ser1785Cys)
c.5351C>G (p.Ser1784Cys)
c.4616C>G (p.Ser1539Cys)
c.4613C>G (p.Ser1538Cys)
c.4976C>G (p.Ser1659Cys)
c.4895C>G (p.Ser1632Cys)
c.4892C>G (p.Ser1631Cys)
c.4700C>G (p.Ser1567Cys)
12g.889213C>TCA383333329WNK1c.5438C>T (p.Ser1813Phe)
c.6194C>T (p.Ser2065Phe)
c.4217C>T (p.Ser1406Phe)
c.2885C>T (p.Ser962Phe)
c.6677C>T (p.Ser2226Phe)
c.4697C>T (p.Ser1566Phe)
c.6218C>T (p.Ser2073Phe)
c.5435C>T (p.Ser1812Phe)
c.6674C>T (p.Ser2225Phe)
c.6398C>T (p.Ser2133Phe)
c.6215C>T (p.Ser2072Phe)
c.5939C>T (p.Ser1980Phe)
c.5936C>T (p.Ser1979Phe)
c.5456C>T (p.Ser1819Phe)
c.5354C>T (p.Ser1785Phe)
c.5351C>T (p.Ser1784Phe)
c.4616C>T (p.Ser1539Phe)
c.4613C>T (p.Ser1538Phe)
c.4976C>T (p.Ser1659Phe)
c.4895C>T (p.Ser1632Phe)
c.4892C>T (p.Ser1631Phe)
c.4700C>T (p.Ser1567Phe)
dbSNP
12g.889214T>ACA477851817WNK1c.5439T>A (p.Ser1813=)
c.6195T>A (p.Ser2065=)
c.4218T>A (p.Ser1406=)
c.2886T>A (p.Ser962=)
c.6678T>A (p.Ser2226=)
c.4698T>A (p.Ser1566=)
c.6219T>A (p.Ser2073=)
c.5436T>A (p.Ser1812=)
c.6675T>A (p.Ser2225=)
c.6399T>A (p.Ser2133=)
c.6216T>A (p.Ser2072=)
c.5940T>A (p.Ser1980=)
c.5937T>A (p.Ser1979=)
c.5457T>A (p.Ser1819=)
c.5355T>A (p.Ser1785=)
c.5352T>A (p.Ser1784=)
c.4617T>A (p.Ser1539=)
c.4614T>A (p.Ser1538=)
c.4977T>A (p.Ser1659=)
c.4896T>A (p.Ser1632=)
c.4893T>A (p.Ser1631=)
c.4701T>A (p.Ser1567=)
12g.889214T>CCA477851818WNK1c.5439T>C (p.Ser1813=)
c.6195T>C (p.Ser2065=)
c.4218T>C (p.Ser1406=)
c.2886T>C (p.Ser962=)
c.6678T>C (p.Ser2226=)
c.4698T>C (p.Ser1566=)
c.6219T>C (p.Ser2073=)
c.5436T>C (p.Ser1812=)
c.6675T>C (p.Ser2225=)
c.6399T>C (p.Ser2133=)
c.6216T>C (p.Ser2072=)
c.5940T>C (p.Ser1980=)
c.5937T>C (p.Ser1979=)
c.5457T>C (p.Ser1819=)
c.5355T>C (p.Ser1785=)
c.5352T>C (p.Ser1784=)
c.4617T>C (p.Ser1539=)
c.4614T>C (p.Ser1538=)
c.4977T>C (p.Ser1659=)
c.4896T>C (p.Ser1632=)
c.4893T>C (p.Ser1631=)
c.4701T>C (p.Ser1567=)
12g.889214T>GCA477851819WNK1c.5439T>G (p.Ser1813=)
c.6195T>G (p.Ser2065=)
c.4218T>G (p.Ser1406=)
c.2886T>G (p.Ser962=)
c.6678T>G (p.Ser2226=)
c.4698T>G (p.Ser1566=)
c.6219T>G (p.Ser2073=)
c.5436T>G (p.Ser1812=)
c.6675T>G (p.Ser2225=)
c.6399T>G (p.Ser2133=)
c.6216T>G (p.Ser2072=)
c.5940T>G (p.Ser1980=)
c.5937T>G (p.Ser1979=)
c.5457T>G (p.Ser1819=)
c.5355T>G (p.Ser1785=)
c.5352T>G (p.Ser1784=)
c.4617T>G (p.Ser1539=)
c.4614T>G (p.Ser1538=)
c.4977T>G (p.Ser1659=)
c.4896T>G (p.Ser1632=)
c.4893T>G (p.Ser1631=)
c.4701T>G (p.Ser1567=)
12g.889215G>ACA383333332WNK1c.5440G>A (p.Ala1814Thr)
c.6196G>A (p.Ala2066Thr)
c.4219G>A (p.Ala1407Thr)
c.2887G>A (p.Ala963Thr)
c.6679G>A (p.Ala2227Thr)
c.4699G>A (p.Ala1567Thr)
c.6220G>A (p.Ala2074Thr)
c.5437G>A (p.Ala1813Thr)
c.6676G>A (p.Ala2226Thr)
c.6400G>A (p.Ala2134Thr)
c.6217G>A (p.Ala2073Thr)
c.5941G>A (p.Ala1981Thr)
c.5938G>A (p.Ala1980Thr)
c.5458G>A (p.Ala1820Thr)
c.5356G>A (p.Ala1786Thr)
c.5353G>A (p.Ala1785Thr)
c.4618G>A (p.Ala1540Thr)
c.4615G>A (p.Ala1539Thr)
c.4978G>A (p.Ala1660Thr)
c.4897G>A (p.Ala1633Thr)
c.4894G>A (p.Ala1632Thr)
c.4702G>A (p.Ala1568Thr)
dbSNP gnomAD v2 gnomAD v4
12g.889215G>CCA383333330WNK1c.5440G>C (p.Ala1814Pro)
c.6196G>C (p.Ala2066Pro)
c.4219G>C (p.Ala1407Pro)
c.2887G>C (p.Ala963Pro)
c.6679G>C (p.Ala2227Pro)
c.4699G>C (p.Ala1567Pro)
c.6220G>C (p.Ala2074Pro)
c.5437G>C (p.Ala1813Pro)
c.6676G>C (p.Ala2226Pro)
c.6400G>C (p.Ala2134Pro)
c.6217G>C (p.Ala2073Pro)
c.5941G>C (p.Ala1981Pro)
c.5938G>C (p.Ala1980Pro)
c.5458G>C (p.Ala1820Pro)
c.5356G>C (p.Ala1786Pro)
c.5353G>C (p.Ala1785Pro)
c.4618G>C (p.Ala1540Pro)
c.4615G>C (p.Ala1539Pro)
c.4978G>C (p.Ala1660Pro)
c.4897G>C (p.Ala1633Pro)
c.4894G>C (p.Ala1632Pro)
c.4702G>C (p.Ala1568Pro)
dbSNP
12g.889215G=CA2011734426WNK1c.5440G= (p.Ala1814=)
c.6196G= (p.Ala2066=)
c.4219G= (p.Ala1407=)
c.2887G= (p.Ala963=)
c.6679G= (p.Ala2227=)
c.4699G= (p.Ala1567=)
c.6220G= (p.Ala2074=)
c.5437G= (p.Ala1813=)
c.6676G= (p.Ala2226=)
c.6400G= (p.Ala2134=)
c.6217G= (p.Ala2073=)
c.5941G= (p.Ala1981=)
c.5938G= (p.Ala1980=)
c.5458G= (p.Ala1820=)
c.5356G= (p.Ala1786=)
c.5353G= (p.Ala1785=)
c.4618G= (p.Ala1540=)
c.4615G= (p.Ala1539=)
c.4978G= (p.Ala1660=)
c.4897G= (p.Ala1633=)
c.4894G= (p.Ala1632=)
c.4702G= (p.Ala1568=)
12g.889215G>TCA383333331WNK1c.5440G>T (p.Ala1814Ser)
c.6196G>T (p.Ala2066Ser)
c.4219G>T (p.Ala1407Ser)
c.2887G>T (p.Ala963Ser)
c.6679G>T (p.Ala2227Ser)
c.4699G>T (p.Ala1567Ser)
c.6220G>T (p.Ala2074Ser)
c.5437G>T (p.Ala1813Ser)
c.6676G>T (p.Ala2226Ser)
c.6400G>T (p.Ala2134Ser)
c.6217G>T (p.Ala2073Ser)
c.5941G>T (p.Ala1981Ser)
c.5938G>T (p.Ala1980Ser)
c.5458G>T (p.Ala1820Ser)
c.5356G>T (p.Ala1786Ser)
c.5353G>T (p.Ala1785Ser)
c.4618G>T (p.Ala1540Ser)
c.4615G>T (p.Ala1539Ser)
c.4978G>T (p.Ala1660Ser)
c.4897G>T (p.Ala1633Ser)
c.4894G>T (p.Ala1632Ser)
c.4702G>T (p.Ala1568Ser)
12g.889216C>ACA383333333WNK1c.5441C>A (p.Ala1814Glu)
c.6197C>A (p.Ala2066Glu)
c.4220C>A (p.Ala1407Glu)
c.2888C>A (p.Ala963Glu)
c.6680C>A (p.Ala2227Glu)
c.4700C>A (p.Ala1567Glu)
c.6221C>A (p.Ala2074Glu)
c.5438C>A (p.Ala1813Glu)
c.6677C>A (p.Ala2226Glu)
c.6401C>A (p.Ala2134Glu)
c.6218C>A (p.Ala2073Glu)
c.5942C>A (p.Ala1981Glu)
c.5939C>A (p.Ala1980Glu)
c.5459C>A (p.Ala1820Glu)
c.5357C>A (p.Ala1786Glu)
c.5354C>A (p.Ala1785Glu)
c.4619C>A (p.Ala1540Glu)
c.4616C>A (p.Ala1539Glu)
c.4979C>A (p.Ala1660Glu)
c.4898C>A (p.Ala1633Glu)
c.4895C>A (p.Ala1632Glu)
c.4703C>A (p.Ala1568Glu)
12g.889216C=CA2011734428WNK1c.5441C= (p.Ala1814=)
c.6197C= (p.Ala2066=)
c.4220C= (p.Ala1407=)
c.2888C= (p.Ala963=)
c.6680C= (p.Ala2227=)
c.4700C= (p.Ala1567=)
c.6221C= (p.Ala2074=)
c.5438C= (p.Ala1813=)
c.6677C= (p.Ala2226=)
c.6401C= (p.Ala2134=)
c.6218C= (p.Ala2073=)
c.5942C= (p.Ala1981=)
c.5939C= (p.Ala1980=)
c.5459C= (p.Ala1820=)
c.5357C= (p.Ala1786=)
c.5354C= (p.Ala1785=)
c.4619C= (p.Ala1540=)
c.4616C= (p.Ala1539=)
c.4979C= (p.Ala1660=)
c.4898C= (p.Ala1633=)
c.4895C= (p.Ala1632=)
c.4703C= (p.Ala1568=)
12g.889216C>GCA383333334WNK1c.5441C>G (p.Ala1814Gly)
c.6197C>G (p.Ala2066Gly)
c.4220C>G (p.Ala1407Gly)
c.2888C>G (p.Ala963Gly)
c.6680C>G (p.Ala2227Gly)
c.4700C>G (p.Ala1567Gly)
c.6221C>G (p.Ala2074Gly)
c.5438C>G (p.Ala1813Gly)
c.6677C>G (p.Ala2226Gly)
c.6401C>G (p.Ala2134Gly)
c.6218C>G (p.Ala2073Gly)
c.5942C>G (p.Ala1981Gly)
c.5939C>G (p.Ala1980Gly)
c.5459C>G (p.Ala1820Gly)
c.5357C>G (p.Ala1786Gly)
c.5354C>G (p.Ala1785Gly)
c.4619C>G (p.Ala1540Gly)
c.4616C>G (p.Ala1539Gly)
c.4979C>G (p.Ala1660Gly)
c.4898C>G (p.Ala1633Gly)
c.4895C>G (p.Ala1632Gly)
c.4703C>G (p.Ala1568Gly)
12g.889216C>TCA231482398WNK1c.5441C>T (p.Ala1814Val)
c.6197C>T (p.Ala2066Val)
c.4220C>T (p.Ala1407Val)
c.2888C>T (p.Ala963Val)
c.6680C>T (p.Ala2227Val)
c.4700C>T (p.Ala1567Val)
c.6221C>T (p.Ala2074Val)
c.5438C>T (p.Ala1813Val)
c.6677C>T (p.Ala2226Val)
c.6401C>T (p.Ala2134Val)
c.6218C>T (p.Ala2073Val)
c.5942C>T (p.Ala1981Val)
c.5939C>T (p.Ala1980Val)
c.5459C>T (p.Ala1820Val)
c.5357C>T (p.Ala1786Val)
c.5354C>T (p.Ala1785Val)
c.4619C>T (p.Ala1540Val)
c.4616C>T (p.Ala1539Val)
c.4979C>T (p.Ala1660Val)
c.4898C>T (p.Ala1633Val)
c.4895C>T (p.Ala1632Val)
c.4703C>T (p.Ala1568Val)
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.889217G>ACA6383169WNK1c.5442G>A (p.Ala1814=)
c.6198G>A (p.Ala2066=)
c.4221G>A (p.Ala1407=)
c.2889G>A (p.Ala963=)
c.6681G>A (p.Ala2227=)
c.4701G>A (p.Ala1567=)
c.6222G>A (p.Ala2074=)
c.5439G>A (p.Ala1813=)
c.6678G>A (p.Ala2226=)
c.6402G>A (p.Ala2134=)
c.6219G>A (p.Ala2073=)
c.5943G>A (p.Ala1981=)
c.5940G>A (p.Ala1980=)
c.5460G>A (p.Ala1820=)
c.5358G>A (p.Ala1786=)
c.5355G>A (p.Ala1785=)
c.4620G>A (p.Ala1540=)
c.4617G>A (p.Ala1539=)
c.4980G>A (p.Ala1660=)
c.4899G>A (p.Ala1633=)
c.4896G>A (p.Ala1632=)
c.4704G>A (p.Ala1568=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
12g.889217G>CCA477851822WNK1c.5442G>C (p.Ala1814=)
c.6198G>C (p.Ala2066=)
c.4221G>C (p.Ala1407=)
c.2889G>C (p.Ala963=)
c.6681G>C (p.Ala2227=)
c.4701G>C (p.Ala1567=)
c.6222G>C (p.Ala2074=)
c.5439G>C (p.Ala1813=)
c.6678G>C (p.Ala2226=)
c.6402G>C (p.Ala2134=)
c.6219G>C (p.Ala2073=)
c.5943G>C (p.Ala1981=)
c.5940G>C (p.Ala1980=)
c.5460G>C (p.Ala1820=)
c.5358G>C (p.Ala1786=)
c.5355G>C (p.Ala1785=)
c.4620G>C (p.Ala1540=)
c.4617G>C (p.Ala1539=)
c.4980G>C (p.Ala1660=)
c.4899G>C (p.Ala1633=)
c.4896G>C (p.Ala1632=)
c.4704G>C (p.Ala1568=)
12g.889217G=CA2011734433WNK1c.5442G= (p.Ala1814=)
c.6198G= (p.Ala2066=)
c.4221G= (p.Ala1407=)
c.2889G= (p.Ala963=)
c.6681G= (p.Ala2227=)
c.4701G= (p.Ala1567=)
c.6222G= (p.Ala2074=)
c.5439G= (p.Ala1813=)
c.6678G= (p.Ala2226=)
c.6402G= (p.Ala2134=)
c.6219G= (p.Ala2073=)
c.5943G= (p.Ala1981=)
c.5940G= (p.Ala1980=)
c.5460G= (p.Ala1820=)
c.5358G= (p.Ala1786=)
c.5355G= (p.Ala1785=)
c.4620G= (p.Ala1540=)
c.4617G= (p.Ala1539=)
c.4980G= (p.Ala1660=)
c.4899G= (p.Ala1633=)
c.4896G= (p.Ala1632=)
c.4704G= (p.Ala1568=)
12g.889217G>TCA477851821WNK1c.5442G>T (p.Ala1814=)
c.6198G>T (p.Ala2066=)
c.4221G>T (p.Ala1407=)
c.2889G>T (p.Ala963=)
c.6681G>T (p.Ala2227=)
c.4701G>T (p.Ala1567=)
c.6222G>T (p.Ala2074=)
c.5439G>T (p.Ala1813=)
c.6678G>T (p.Ala2226=)
c.6402G>T (p.Ala2134=)
c.6219G>T (p.Ala2073=)
c.5943G>T (p.Ala1981=)
c.5940G>T (p.Ala1980=)
c.5460G>T (p.Ala1820=)
c.5358G>T (p.Ala1786=)
c.5355G>T (p.Ala1785=)
c.4620G>T (p.Ala1540=)
c.4617G>T (p.Ala1539=)
c.4980G>T (p.Ala1660=)
c.4899G>T (p.Ala1633=)
c.4896G>T (p.Ala1632=)
c.4704G>T (p.Ala1568=)
12g.889218G>ACA6383170WNK1c.5443G>A (p.Val1815Ile)
c.6199G>A (p.Val2067Ile)
c.4222G>A (p.Val1408Ile)
c.2890G>A (p.Val964Ile)
c.6682G>A (p.Val2228Ile)
c.4702G>A (p.Val1568Ile)
c.6223G>A (p.Val2075Ile)
c.5440G>A (p.Val1814Ile)
c.6679G>A (p.Val2227Ile)
c.6403G>A (p.Val2135Ile)
c.6220G>A (p.Val2074Ile)
c.5944G>A (p.Val1982Ile)
c.5941G>A (p.Val1981Ile)
c.5461G>A (p.Val1821Ile)
c.5359G>A (p.Val1787Ile)
c.5356G>A (p.Val1786Ile)
c.4621G>A (p.Val1541Ile)
c.4618G>A (p.Val1540Ile)
c.4981G>A (p.Val1661Ile)
c.4900G>A (p.Val1634Ile)
c.4897G>A (p.Val1633Ile)
c.4705G>A (p.Val1569Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889218G>CCA383333335WNK1c.5443G>C (p.Val1815Leu)
c.6199G>C (p.Val2067Leu)
c.4222G>C (p.Val1408Leu)
c.2890G>C (p.Val964Leu)
c.6682G>C (p.Val2228Leu)
c.4702G>C (p.Val1568Leu)
c.6223G>C (p.Val2075Leu)
c.5440G>C (p.Val1814Leu)
c.6679G>C (p.Val2227Leu)
c.6403G>C (p.Val2135Leu)
c.6220G>C (p.Val2074Leu)
c.5944G>C (p.Val1982Leu)
c.5941G>C (p.Val1981Leu)
c.5461G>C (p.Val1821Leu)
c.5359G>C (p.Val1787Leu)
c.5356G>C (p.Val1786Leu)
c.4621G>C (p.Val1541Leu)
c.4618G>C (p.Val1540Leu)
c.4981G>C (p.Val1661Leu)
c.4900G>C (p.Val1634Leu)
c.4897G>C (p.Val1633Leu)
c.4705G>C (p.Val1569Leu)
12g.889218G=CA2011734437WNK1c.5443G= (p.Val1815=)
c.6199G= (p.Val2067=)
c.4222G= (p.Val1408=)
c.2890G= (p.Val964=)
c.6682G= (p.Val2228=)
c.4702G= (p.Val1568=)
c.6223G= (p.Val2075=)
c.5440G= (p.Val1814=)
c.6679G= (p.Val2227=)
c.6403G= (p.Val2135=)
c.6220G= (p.Val2074=)
c.5944G= (p.Val1982=)
c.5941G= (p.Val1981=)
c.5461G= (p.Val1821=)
c.5359G= (p.Val1787=)
c.5356G= (p.Val1786=)
c.4621G= (p.Val1541=)
c.4618G= (p.Val1540=)
c.4981G= (p.Val1661=)
c.4900G= (p.Val1634=)
c.4897G= (p.Val1633=)
c.4705G= (p.Val1569=)
12g.889218G>TCA383333336WNK1c.5443G>T (p.Val1815Phe)
c.6199G>T (p.Val2067Phe)
c.4222G>T (p.Val1408Phe)
c.2890G>T (p.Val964Phe)
c.6682G>T (p.Val2228Phe)
c.4702G>T (p.Val1568Phe)
c.6223G>T (p.Val2075Phe)
c.5440G>T (p.Val1814Phe)
c.6679G>T (p.Val2227Phe)
c.6403G>T (p.Val2135Phe)
c.6220G>T (p.Val2074Phe)
c.5944G>T (p.Val1982Phe)
c.5941G>T (p.Val1981Phe)
c.5461G>T (p.Val1821Phe)
c.5359G>T (p.Val1787Phe)
c.5356G>T (p.Val1786Phe)
c.4621G>T (p.Val1541Phe)
c.4618G>T (p.Val1540Phe)
c.4981G>T (p.Val1661Phe)
c.4900G>T (p.Val1634Phe)
c.4897G>T (p.Val1633Phe)
c.4705G>T (p.Val1569Phe)
12g.889219T>ACA383333337WNK1c.5444T>A (p.Val1815Asp)
c.6200T>A (p.Val2067Asp)
c.4223T>A (p.Val1408Asp)
c.2891T>A (p.Val964Asp)
c.6683T>A (p.Val2228Asp)
c.4703T>A (p.Val1568Asp)
c.6224T>A (p.Val2075Asp)
c.5441T>A (p.Val1814Asp)
c.6680T>A (p.Val2227Asp)
c.6404T>A (p.Val2135Asp)
c.6221T>A (p.Val2074Asp)
c.5945T>A (p.Val1982Asp)
c.5942T>A (p.Val1981Asp)
c.5462T>A (p.Val1821Asp)
c.5360T>A (p.Val1787Asp)
c.5357T>A (p.Val1786Asp)
c.4622T>A (p.Val1541Asp)
c.4619T>A (p.Val1540Asp)
c.4982T>A (p.Val1661Asp)
c.4901T>A (p.Val1634Asp)
c.4898T>A (p.Val1633Asp)
c.4706T>A (p.Val1569Asp)
12g.889219T>CCA383333338WNK1c.5444T>C (p.Val1815Ala)
c.6200T>C (p.Val2067Ala)
c.4223T>C (p.Val1408Ala)
c.2891T>C (p.Val964Ala)
c.6683T>C (p.Val2228Ala)
c.4703T>C (p.Val1568Ala)
c.6224T>C (p.Val2075Ala)
c.5441T>C (p.Val1814Ala)
c.6680T>C (p.Val2227Ala)
c.6404T>C (p.Val2135Ala)
c.6221T>C (p.Val2074Ala)
c.5945T>C (p.Val1982Ala)
c.5942T>C (p.Val1981Ala)
c.5462T>C (p.Val1821Ala)
c.5360T>C (p.Val1787Ala)
c.5357T>C (p.Val1786Ala)
c.4622T>C (p.Val1541Ala)
c.4619T>C (p.Val1540Ala)
c.4982T>C (p.Val1661Ala)
c.4901T>C (p.Val1634Ala)
c.4898T>C (p.Val1633Ala)
c.4706T>C (p.Val1569Ala)
dbSNP
12g.889219T>GCA383333339WNK1c.5444T>G (p.Val1815Gly)
c.6200T>G (p.Val2067Gly)
c.4223T>G (p.Val1408Gly)
c.2891T>G (p.Val964Gly)
c.6683T>G (p.Val2228Gly)
c.4703T>G (p.Val1568Gly)
c.6224T>G (p.Val2075Gly)
c.5441T>G (p.Val1814Gly)
c.6680T>G (p.Val2227Gly)
c.6404T>G (p.Val2135Gly)
c.6221T>G (p.Val2074Gly)
c.5945T>G (p.Val1982Gly)
c.5942T>G (p.Val1981Gly)
c.5462T>G (p.Val1821Gly)
c.5360T>G (p.Val1787Gly)
c.5357T>G (p.Val1786Gly)
c.4622T>G (p.Val1541Gly)
c.4619T>G (p.Val1540Gly)
c.4982T>G (p.Val1661Gly)
c.4901T>G (p.Val1634Gly)
c.4898T>G (p.Val1633Gly)
c.4706T>G (p.Val1569Gly)
12g.889219T=CA2011734440WNK1c.5444T= (p.Val1815=)
c.6200T= (p.Val2067=)
c.4223T= (p.Val1408=)
c.2891T= (p.Val964=)
c.6683T= (p.Val2228=)
c.4703T= (p.Val1568=)
c.6224T= (p.Val2075=)
c.5441T= (p.Val1814=)
c.6680T= (p.Val2227=)
c.6404T= (p.Val2135=)
c.6221T= (p.Val2074=)
c.5945T= (p.Val1982=)
c.5942T= (p.Val1981=)
c.5462T= (p.Val1821=)
c.5360T= (p.Val1787=)
c.5357T= (p.Val1786=)
c.4622T= (p.Val1541=)
c.4619T= (p.Val1540=)
c.4982T= (p.Val1661=)
c.4901T= (p.Val1634=)
c.4898T= (p.Val1633=)
c.4706T= (p.Val1569=)
12g.889220T>ACA477851826WNK1c.5445T>A (p.Val1815=)
c.6201T>A (p.Val2067=)
c.4224T>A (p.Val1408=)
c.2892T>A (p.Val964=)
c.6684T>A (p.Val2228=)
c.4704T>A (p.Val1568=)
c.6225T>A (p.Val2075=)
c.5442T>A (p.Val1814=)
c.6681T>A (p.Val2227=)
c.6405T>A (p.Val2135=)
c.6222T>A (p.Val2074=)
c.5946T>A (p.Val1982=)
c.5943T>A (p.Val1981=)
c.5463T>A (p.Val1821=)
c.5361T>A (p.Val1787=)
c.5358T>A (p.Val1786=)
c.4623T>A (p.Val1541=)
c.4620T>A (p.Val1540=)
c.4983T>A (p.Val1661=)
c.4902T>A (p.Val1634=)
c.4899T>A (p.Val1633=)
c.4707T>A (p.Val1569=)
12g.889220T>CCA477851824WNK1c.5445T>C (p.Val1815=)
c.6201T>C (p.Val2067=)
c.4224T>C (p.Val1408=)
c.2892T>C (p.Val964=)
c.6684T>C (p.Val2228=)
c.4704T>C (p.Val1568=)
c.6225T>C (p.Val2075=)
c.5442T>C (p.Val1814=)
c.6681T>C (p.Val2227=)
c.6405T>C (p.Val2135=)
c.6222T>C (p.Val2074=)
c.5946T>C (p.Val1982=)
c.5943T>C (p.Val1981=)
c.5463T>C (p.Val1821=)
c.5361T>C (p.Val1787=)
c.5358T>C (p.Val1786=)
c.4623T>C (p.Val1541=)
c.4620T>C (p.Val1540=)
c.4983T>C (p.Val1661=)
c.4902T>C (p.Val1634=)
c.4899T>C (p.Val1633=)
c.4707T>C (p.Val1569=)
12g.889220T>GCA477851825WNK1c.5445T>G (p.Val1815=)
c.6201T>G (p.Val2067=)
c.4224T>G (p.Val1408=)
c.2892T>G (p.Val964=)
c.6684T>G (p.Val2228=)
c.4704T>G (p.Val1568=)
c.6225T>G (p.Val2075=)
c.5442T>G (p.Val1814=)
c.6681T>G (p.Val2227=)
c.6405T>G (p.Val2135=)
c.6222T>G (p.Val2074=)
c.5946T>G (p.Val1982=)
c.5943T>G (p.Val1981=)
c.5463T>G (p.Val1821=)
c.5361T>G (p.Val1787=)
c.5358T>G (p.Val1786=)
c.4623T>G (p.Val1541=)
c.4620T>G (p.Val1540=)
c.4983T>G (p.Val1661=)
c.4902T>G (p.Val1634=)
c.4899T>G (p.Val1633=)
c.4707T>G (p.Val1569=)
12g.889221G>ACA383333342WNK1c.5446G>A (p.Gly1816Ser)
c.6202G>A (p.Gly2068Ser)
c.4225G>A (p.Gly1409Ser)
c.2893G>A (p.Gly965Ser)
c.6685G>A (p.Gly2229Ser)
c.4705G>A (p.Gly1569Ser)
c.6226G>A (p.Gly2076Ser)
c.5443G>A (p.Gly1815Ser)
c.6682G>A (p.Gly2228Ser)
c.6406G>A (p.Gly2136Ser)
c.6223G>A (p.Gly2075Ser)
c.5947G>A (p.Gly1983Ser)
c.5944G>A (p.Gly1982Ser)
c.5464G>A (p.Gly1822Ser)
c.5362G>A (p.Gly1788Ser)
c.5359G>A (p.Gly1787Ser)
c.4624G>A (p.Gly1542Ser)
c.4621G>A (p.Gly1541Ser)
c.4984G>A (p.Gly1662Ser)
c.4903G>A (p.Gly1635Ser)
c.4900G>A (p.Gly1634Ser)
c.4708G>A (p.Gly1570Ser)
gnomAD v4
12g.889221G>CCA383333341WNK1c.5446G>C (p.Gly1816Arg)
c.6202G>C (p.Gly2068Arg)
c.4225G>C (p.Gly1409Arg)
c.2893G>C (p.Gly965Arg)
c.6685G>C (p.Gly2229Arg)
c.4705G>C (p.Gly1569Arg)
c.6226G>C (p.Gly2076Arg)
c.5443G>C (p.Gly1815Arg)
c.6682G>C (p.Gly2228Arg)
c.6406G>C (p.Gly2136Arg)
c.6223G>C (p.Gly2075Arg)
c.5947G>C (p.Gly1983Arg)
c.5944G>C (p.Gly1982Arg)
c.5464G>C (p.Gly1822Arg)
c.5362G>C (p.Gly1788Arg)
c.5359G>C (p.Gly1787Arg)
c.4624G>C (p.Gly1542Arg)
c.4621G>C (p.Gly1541Arg)
c.4984G>C (p.Gly1662Arg)
c.4903G>C (p.Gly1635Arg)
c.4900G>C (p.Gly1634Arg)
c.4708G>C (p.Gly1570Arg)
12g.889221G>TCA383333340WNK1c.5446G>T (p.Gly1816Cys)
c.6202G>T (p.Gly2068Cys)
c.4225G>T (p.Gly1409Cys)
c.2893G>T (p.Gly965Cys)
c.6685G>T (p.Gly2229Cys)
c.4705G>T (p.Gly1569Cys)
c.6226G>T (p.Gly2076Cys)
c.5443G>T (p.Gly1815Cys)
c.6682G>T (p.Gly2228Cys)
c.6406G>T (p.Gly2136Cys)
c.6223G>T (p.Gly2075Cys)
c.5947G>T (p.Gly1983Cys)
c.5944G>T (p.Gly1982Cys)
c.5464G>T (p.Gly1822Cys)
c.5362G>T (p.Gly1788Cys)
c.5359G>T (p.Gly1787Cys)
c.4624G>T (p.Gly1542Cys)
c.4621G>T (p.Gly1541Cys)
c.4984G>T (p.Gly1662Cys)
c.4903G>T (p.Gly1635Cys)
c.4900G>T (p.Gly1634Cys)
c.4708G>T (p.Gly1570Cys)
12g.889222G>ACA383333343WNK1c.5447G>A (p.Gly1816Asp)
c.6203G>A (p.Gly2068Asp)
c.4226G>A (p.Gly1409Asp)
c.2894G>A (p.Gly965Asp)
c.6686G>A (p.Gly2229Asp)
c.4706G>A (p.Gly1569Asp)
c.6227G>A (p.Gly2076Asp)
c.5444G>A (p.Gly1815Asp)
c.6683G>A (p.Gly2228Asp)
c.6407G>A (p.Gly2136Asp)
c.6224G>A (p.Gly2075Asp)
c.5948G>A (p.Gly1983Asp)
c.5945G>A (p.Gly1982Asp)
c.5465G>A (p.Gly1822Asp)
c.5363G>A (p.Gly1788Asp)
c.5360G>A (p.Gly1787Asp)
c.4625G>A (p.Gly1542Asp)
c.4622G>A (p.Gly1541Asp)
c.4985G>A (p.Gly1662Asp)
c.4904G>A (p.Gly1635Asp)
c.4901G>A (p.Gly1634Asp)
c.4709G>A (p.Gly1570Asp)
12g.889222G>CCA383333344WNK1c.5447G>C (p.Gly1816Ala)
c.6203G>C (p.Gly2068Ala)
c.4226G>C (p.Gly1409Ala)
c.2894G>C (p.Gly965Ala)
c.6686G>C (p.Gly2229Ala)
c.4706G>C (p.Gly1569Ala)
c.6227G>C (p.Gly2076Ala)
c.5444G>C (p.Gly1815Ala)
c.6683G>C (p.Gly2228Ala)
c.6407G>C (p.Gly2136Ala)
c.6224G>C (p.Gly2075Ala)
c.5948G>C (p.Gly1983Ala)
c.5945G>C (p.Gly1982Ala)
c.5465G>C (p.Gly1822Ala)
c.5363G>C (p.Gly1788Ala)
c.5360G>C (p.Gly1787Ala)
c.4625G>C (p.Gly1542Ala)
c.4622G>C (p.Gly1541Ala)
c.4985G>C (p.Gly1662Ala)
c.4904G>C (p.Gly1635Ala)
c.4901G>C (p.Gly1634Ala)
c.4709G>C (p.Gly1570Ala)
dbSNP gnomAD v2 gnomAD v4
12g.889222G=CA2011734443WNK1c.5447G= (p.Gly1816=)
c.6203G= (p.Gly2068=)
c.4226G= (p.Gly1409=)
c.2894G= (p.Gly965=)
c.6686G= (p.Gly2229=)
c.4706G= (p.Gly1569=)
c.6227G= (p.Gly2076=)
c.5444G= (p.Gly1815=)
c.6683G= (p.Gly2228=)
c.6407G= (p.Gly2136=)
c.6224G= (p.Gly2075=)
c.5948G= (p.Gly1983=)
c.5945G= (p.Gly1982=)
c.5465G= (p.Gly1822=)
c.5363G= (p.Gly1788=)
c.5360G= (p.Gly1787=)
c.4625G= (p.Gly1542=)
c.4622G= (p.Gly1541=)
c.4985G= (p.Gly1662=)
c.4904G= (p.Gly1635=)
c.4901G= (p.Gly1634=)
c.4709G= (p.Gly1570=)
12g.889222G>TCA383333345WNK1c.5447G>T (p.Gly1816Val)
c.6203G>T (p.Gly2068Val)
c.4226G>T (p.Gly1409Val)
c.2894G>T (p.Gly965Val)
c.6686G>T (p.Gly2229Val)
c.4706G>T (p.Gly1569Val)
c.6227G>T (p.Gly2076Val)
c.5444G>T (p.Gly1815Val)
c.6683G>T (p.Gly2228Val)
c.6407G>T (p.Gly2136Val)
c.6224G>T (p.Gly2075Val)
c.5948G>T (p.Gly1983Val)
c.5945G>T (p.Gly1982Val)
c.5465G>T (p.Gly1822Val)
c.5363G>T (p.Gly1788Val)
c.5360G>T (p.Gly1787Val)
c.4625G>T (p.Gly1542Val)
c.4622G>T (p.Gly1541Val)
c.4985G>T (p.Gly1662Val)
c.4904G>T (p.Gly1635Val)
c.4901G>T (p.Gly1634Val)
c.4709G>T (p.Gly1570Val)
dbSNP
12g.889223T>ACA477851827WNK1c.5448T>A (p.Gly1816=)
c.6204T>A (p.Gly2068=)
c.4227T>A (p.Gly1409=)
c.2895T>A (p.Gly965=)
c.6687T>A (p.Gly2229=)
c.4707T>A (p.Gly1569=)
c.6228T>A (p.Gly2076=)
c.5445T>A (p.Gly1815=)
c.6684T>A (p.Gly2228=)
c.6408T>A (p.Gly2136=)
c.6225T>A (p.Gly2075=)
c.5949T>A (p.Gly1983=)
c.5946T>A (p.Gly1982=)
c.5466T>A (p.Gly1822=)
c.5364T>A (p.Gly1788=)
c.5361T>A (p.Gly1787=)
c.4626T>A (p.Gly1542=)
c.4623T>A (p.Gly1541=)
c.4986T>A (p.Gly1662=)
c.4905T>A (p.Gly1635=)
c.4902T>A (p.Gly1634=)
c.4710T>A (p.Gly1570=)
12g.889223T>CCA477851829WNK1c.5448T>C (p.Gly1816=)
c.6204T>C (p.Gly2068=)
c.4227T>C (p.Gly1409=)
c.2895T>C (p.Gly965=)
c.6687T>C (p.Gly2229=)
c.4707T>C (p.Gly1569=)
c.6228T>C (p.Gly2076=)
c.5445T>C (p.Gly1815=)
c.6684T>C (p.Gly2228=)
c.6408T>C (p.Gly2136=)
c.6225T>C (p.Gly2075=)
c.5949T>C (p.Gly1983=)
c.5946T>C (p.Gly1982=)
c.5466T>C (p.Gly1822=)
c.5364T>C (p.Gly1788=)
c.5361T>C (p.Gly1787=)
c.4626T>C (p.Gly1542=)
c.4623T>C (p.Gly1541=)
c.4986T>C (p.Gly1662=)
c.4905T>C (p.Gly1635=)
c.4902T>C (p.Gly1634=)
c.4710T>C (p.Gly1570=)
12g.889223T>GCA477851831WNK1c.5448T>G (p.Gly1816=)
c.6204T>G (p.Gly2068=)
c.4227T>G (p.Gly1409=)
c.2895T>G (p.Gly965=)
c.6687T>G (p.Gly2229=)
c.4707T>G (p.Gly1569=)
c.6228T>G (p.Gly2076=)
c.5445T>G (p.Gly1815=)
c.6684T>G (p.Gly2228=)
c.6408T>G (p.Gly2136=)
c.6225T>G (p.Gly2075=)
c.5949T>G (p.Gly1983=)
c.5946T>G (p.Gly1982=)
c.5466T>G (p.Gly1822=)
c.5364T>G (p.Gly1788=)
c.5361T>G (p.Gly1787=)
c.4626T>G (p.Gly1542=)
c.4623T>G (p.Gly1541=)
c.4986T>G (p.Gly1662=)
c.4905T>G (p.Gly1635=)
c.4902T>G (p.Gly1634=)
c.4710T>G (p.Gly1570=)
12g.889224G>ACA383333346WNK1c.5448+1G>A (n.5448+1G>A)
c.6204+1G>A (n.6204+1G>A)
c.4227+1G>A (n.4227+1G>A)
c.2895+1G>A (n.2895+1G>A)
c.6687+1G>A (n.6687+1G>A)
c.4707+1G>A (n.4707+1G>A)
c.6228+1G>A (n.6228+1G>A)
c.5445+1G>A (n.5445+1G>A)
c.6684+1G>A (n.6684+1G>A)
c.6408+1G>A (n.6408+1G>A)
c.6225+1G>A (n.6225+1G>A)
c.5949+1G>A (n.5949+1G>A)
c.5946+1G>A (n.5946+1G>A)
c.5466+1G>A (n.5466+1G>A)
c.5364+1G>A (n.5364+1G>A)
c.5361+1G>A (n.5361+1G>A)
c.4626+1G>A (n.4626+1G>A)
c.4623+1G>A (n.4623+1G>A)
c.4986+1G>A (n.4986+1G>A)
c.4905+1G>A (n.4905+1G>A)
c.4902+1G>A (n.4902+1G>A)
c.4710+1G>A (n.4710+1G>A)
12g.889224G>CCA383333347WNK1c.5448+1G>C (n.5448+1G>C)
c.6204+1G>C (n.6204+1G>C)
c.4227+1G>C (n.4227+1G>C)
c.2895+1G>C (n.2895+1G>C)
c.6687+1G>C (n.6687+1G>C)
c.4707+1G>C (n.4707+1G>C)
c.6228+1G>C (n.6228+1G>C)
c.5445+1G>C (n.5445+1G>C)
c.6684+1G>C (n.6684+1G>C)
c.6408+1G>C (n.6408+1G>C)
c.6225+1G>C (n.6225+1G>C)
c.5949+1G>C (n.5949+1G>C)
c.5946+1G>C (n.5946+1G>C)
c.5466+1G>C (n.5466+1G>C)
c.5364+1G>C (n.5364+1G>C)
c.5361+1G>C (n.5361+1G>C)
c.4626+1G>C (n.4626+1G>C)
c.4623+1G>C (n.4623+1G>C)
c.4986+1G>C (n.4986+1G>C)
c.4905+1G>C (n.4905+1G>C)
c.4902+1G>C (n.4902+1G>C)
c.4710+1G>C (n.4710+1G>C)
12g.889224G=CA2011734445WNK1c.5448+1G= (n.5448+1G=)
c.6204+1G= (n.6204+1G=)
c.4227+1G= (n.4227+1G=)
c.2895+1G= (n.2895+1G=)
c.6687+1G= (n.6687+1G=)
c.4707+1G= (n.4707+1G=)
c.6228+1G= (n.6228+1G=)
c.5445+1G= (n.5445+1G=)
c.6684+1G= (n.6684+1G=)
c.6408+1G= (n.6408+1G=)
c.6225+1G= (n.6225+1G=)
c.5949+1G= (n.5949+1G=)
c.5946+1G= (n.5946+1G=)
c.5466+1G= (n.5466+1G=)
c.5364+1G= (n.5364+1G=)
c.5361+1G= (n.5361+1G=)
c.4626+1G= (n.4626+1G=)
c.4623+1G= (n.4623+1G=)
c.4986+1G= (n.4986+1G=)
c.4905+1G= (n.4905+1G=)
c.4902+1G= (n.4902+1G=)
c.4710+1G= (n.4710+1G=)
12g.889224G>TCA383333348WNK1c.5448+1G>T (n.5448+1G>T)
c.6204+1G>T (n.6204+1G>T)
c.4227+1G>T (n.4227+1G>T)
c.2895+1G>T (n.2895+1G>T)
c.6687+1G>T (n.6687+1G>T)
c.4707+1G>T (n.4707+1G>T)
c.6228+1G>T (n.6228+1G>T)
c.5445+1G>T (n.5445+1G>T)
c.6684+1G>T (n.6684+1G>T)
c.6408+1G>T (n.6408+1G>T)
c.6225+1G>T (n.6225+1G>T)
c.5949+1G>T (n.5949+1G>T)
c.5946+1G>T (n.5946+1G>T)
c.5466+1G>T (n.5466+1G>T)
c.5364+1G>T (n.5364+1G>T)
c.5361+1G>T (n.5361+1G>T)
c.4626+1G>T (n.4626+1G>T)
c.4623+1G>T (n.4623+1G>T)
c.4986+1G>T (n.4986+1G>T)
c.4905+1G>T (n.4905+1G>T)
c.4902+1G>T (n.4902+1G>T)
c.4710+1G>T (n.4710+1G>T)
ClinVar dbSNP gnomAD v4
12g.889225T>ACA383333349WNK1c.5448+2T>A (n.5448+2T>A)
c.6204+2T>A (n.6204+2T>A)
c.4227+2T>A (n.4227+2T>A)
c.2895+2T>A (n.2895+2T>A)
c.6687+2T>A (n.6687+2T>A)
c.4707+2T>A (n.4707+2T>A)
c.6228+2T>A (n.6228+2T>A)
c.5445+2T>A (n.5445+2T>A)
c.6684+2T>A (n.6684+2T>A)
c.6408+2T>A (n.6408+2T>A)
c.6225+2T>A (n.6225+2T>A)
c.5949+2T>A (n.5949+2T>A)
c.5946+2T>A (n.5946+2T>A)
c.5466+2T>A (n.5466+2T>A)
c.5364+2T>A (n.5364+2T>A)
c.5361+2T>A (n.5361+2T>A)
c.4626+2T>A (n.4626+2T>A)
c.4623+2T>A (n.4623+2T>A)
c.4986+2T>A (n.4986+2T>A)
c.4905+2T>A (n.4905+2T>A)
c.4902+2T>A (n.4902+2T>A)
c.4710+2T>A (n.4710+2T>A)
12g.889225T>CCA383333350WNK1c.5448+2T>C (n.5448+2T>C)
c.6204+2T>C (n.6204+2T>C)
c.4227+2T>C (n.4227+2T>C)
c.2895+2T>C (n.2895+2T>C)
c.6687+2T>C (n.6687+2T>C)
c.4707+2T>C (n.4707+2T>C)
c.6228+2T>C (n.6228+2T>C)
c.5445+2T>C (n.5445+2T>C)
c.6684+2T>C (n.6684+2T>C)
c.6408+2T>C (n.6408+2T>C)
c.6225+2T>C (n.6225+2T>C)
c.5949+2T>C (n.5949+2T>C)
c.5946+2T>C (n.5946+2T>C)
c.5466+2T>C (n.5466+2T>C)
c.5364+2T>C (n.5364+2T>C)
c.5361+2T>C (n.5361+2T>C)
c.4626+2T>C (n.4626+2T>C)
c.4623+2T>C (n.4623+2T>C)
c.4986+2T>C (n.4986+2T>C)
c.4905+2T>C (n.4905+2T>C)
c.4902+2T>C (n.4902+2T>C)
c.4710+2T>C (n.4710+2T>C)
12g.889225T>GCA383333351WNK1c.5448+2T>G (n.5448+2T>G)
c.6204+2T>G (n.6204+2T>G)
c.4227+2T>G (n.4227+2T>G)
c.2895+2T>G (n.2895+2T>G)
c.6687+2T>G (n.6687+2T>G)
c.4707+2T>G (n.4707+2T>G)
c.6228+2T>G (n.6228+2T>G)
c.5445+2T>G (n.5445+2T>G)
c.6684+2T>G (n.6684+2T>G)
c.6408+2T>G (n.6408+2T>G)
c.6225+2T>G (n.6225+2T>G)
c.5949+2T>G (n.5949+2T>G)
c.5946+2T>G (n.5946+2T>G)
c.5466+2T>G (n.5466+2T>G)
c.5364+2T>G (n.5364+2T>G)
c.5361+2T>G (n.5361+2T>G)
c.4626+2T>G (n.4626+2T>G)
c.4623+2T>G (n.4623+2T>G)
c.4986+2T>G (n.4986+2T>G)
c.4905+2T>G (n.4905+2T>G)
c.4902+2T>G (n.4902+2T>G)
c.4710+2T>G (n.4710+2T>G)
gnomAD v4
12g.889225dupCA6383171WNK1c.5448+2dup (n.5448+2dup)
c.6204+2dup (n.6204+2dup)
c.4227+2dup (n.4227+2dup)
c.2895+2dup (n.2895+2dup)
c.6687+2dup (n.6687+2dup)
c.4707+2dup (n.4707+2dup)
c.6228+2dup (n.6228+2dup)
c.5445+2dup (n.5445+2dup)
c.6684+2dup (n.6684+2dup)
c.6408+2dup (n.6408+2dup)
c.6225+2dup (n.6225+2dup)
c.5949+2dup (n.5949+2dup)
c.5946+2dup (n.5946+2dup)
c.5466+2dup (n.5466+2dup)
c.5364+2dup (n.5364+2dup)
c.5361+2dup (n.5361+2dup)
c.4626+2dup (n.4626+2dup)
c.4623+2dup (n.4623+2dup)
c.4986+2dup (n.4986+2dup)
c.4905+2dup (n.4905+2dup)
c.4902+2dup (n.4902+2dup)
c.4710+2dup (n.4710+2dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.889226A>GCA2509612595WNK1c.5448+3A>G (n.5448+3A>G)
c.6204+3A>G (n.6204+3A>G)
c.4227+3A>G (n.4227+3A>G)
c.2895+3A>G (n.2895+3A>G)
c.6687+3A>G (n.6687+3A>G)
c.4707+3A>G (n.4707+3A>G)
c.6228+3A>G (n.6228+3A>G)
c.5445+3A>G (n.5445+3A>G)
c.6684+3A>G (n.6684+3A>G)
c.6408+3A>G (n.6408+3A>G)
c.6225+3A>G (n.6225+3A>G)
c.5949+3A>G (n.5949+3A>G)
c.5946+3A>G (n.5946+3A>G)
c.5466+3A>G (n.5466+3A>G)
c.5364+3A>G (n.5364+3A>G)
c.5361+3A>G (n.5361+3A>G)
c.4626+3A>G (n.4626+3A>G)
c.4623+3A>G (n.4623+3A>G)
c.4986+3A>G (n.4986+3A>G)
c.4905+3A>G (n.4905+3A>G)
c.4902+3A>G (n.4902+3A>G)
c.4710+3A>G (n.4710+3A>G)
12g.889227A>CCA2794265234WNK1c.5448+4A>C (n.5448+4A>C)
c.6204+4A>C (n.6204+4A>C)
c.4227+4A>C (n.4227+4A>C)
c.2895+4A>C (n.2895+4A>C)
c.6687+4A>C (n.6687+4A>C)
c.4707+4A>C (n.4707+4A>C)
c.6228+4A>C (n.6228+4A>C)
c.5445+4A>C (n.5445+4A>C)
c.6684+4A>C (n.6684+4A>C)
c.6408+4A>C (n.6408+4A>C)
c.6225+4A>C (n.6225+4A>C)
c.5949+4A>C (n.5949+4A>C)
c.5946+4A>C (n.5946+4A>C)
c.5466+4A>C (n.5466+4A>C)
c.5364+4A>C (n.5364+4A>C)
c.5361+4A>C (n.5361+4A>C)
c.4626+4A>C (n.4626+4A>C)
c.4623+4A>C (n.4623+4A>C)
c.4986+4A>C (n.4986+4A>C)
c.4905+4A>C (n.4905+4A>C)
c.4902+4A>C (n.4902+4A>C)
c.4710+4A>C (n.4710+4A>C)
12g.889228G>ACA477851833WNK1c.5448+5G>A (n.5448+5G>A)
c.6204+5G>A (n.6204+5G>A)
c.4227+5G>A (n.4227+5G>A)
c.2895+5G>A (n.2895+5G>A)
c.6687+5G>A (n.6687+5G>A)
c.4707+5G>A (n.4707+5G>A)
c.6228+5G>A (n.6228+5G>A)
c.5445+5G>A (n.5445+5G>A)
c.6684+5G>A (n.6684+5G>A)
c.6408+5G>A (n.6408+5G>A)
c.6225+5G>A (n.6225+5G>A)
c.5949+5G>A (n.5949+5G>A)
c.5946+5G>A (n.5946+5G>A)
c.5466+5G>A (n.5466+5G>A)
c.5364+5G>A (n.5364+5G>A)
c.5361+5G>A (n.5361+5G>A)
c.4626+5G>A (n.4626+5G>A)
c.4623+5G>A (n.4623+5G>A)
c.4986+5G>A (n.4986+5G>A)
c.4905+5G>A (n.4905+5G>A)
c.4902+5G>A (n.4902+5G>A)
c.4710+5G>A (n.4710+5G>A)
gnomAD v4
12g.889228G>CCA2575041140WNK1c.5448+5G>C (n.5448+5G>C)
c.6204+5G>C (n.6204+5G>C)
c.4227+5G>C (n.4227+5G>C)
c.2895+5G>C (n.2895+5G>C)
c.6687+5G>C (n.6687+5G>C)
c.4707+5G>C (n.4707+5G>C)
c.6228+5G>C (n.6228+5G>C)
c.5445+5G>C (n.5445+5G>C)
c.6684+5G>C (n.6684+5G>C)
c.6408+5G>C (n.6408+5G>C)
c.6225+5G>C (n.6225+5G>C)
c.5949+5G>C (n.5949+5G>C)
c.5946+5G>C (n.5946+5G>C)
c.5466+5G>C (n.5466+5G>C)
c.5364+5G>C (n.5364+5G>C)
c.5361+5G>C (n.5361+5G>C)
c.4626+5G>C (n.4626+5G>C)
c.4623+5G>C (n.4623+5G>C)
c.4986+5G>C (n.4986+5G>C)
c.4905+5G>C (n.4905+5G>C)
c.4902+5G>C (n.4902+5G>C)
c.4710+5G>C (n.4710+5G>C)
12g.889228G=CA2011734452WNK1c.5448+5G= (n.5448+5G=)
c.6204+5G= (n.6204+5G=)
c.4227+5G= (n.4227+5G=)
c.2895+5G= (n.2895+5G=)
c.6687+5G= (n.6687+5G=)
c.4707+5G= (n.4707+5G=)
c.6228+5G= (n.6228+5G=)
c.5445+5G= (n.5445+5G=)
c.6684+5G= (n.6684+5G=)
c.6408+5G= (n.6408+5G=)
c.6225+5G= (n.6225+5G=)
c.5949+5G= (n.5949+5G=)
c.5946+5G= (n.5946+5G=)
c.5466+5G= (n.5466+5G=)
c.5364+5G= (n.5364+5G=)
c.5361+5G= (n.5361+5G=)
c.4626+5G= (n.4626+5G=)
c.4623+5G= (n.4623+5G=)
c.4986+5G= (n.4986+5G=)
c.4905+5G= (n.4905+5G=)
c.4902+5G= (n.4902+5G=)
c.4710+5G= (n.4710+5G=)
12g.889228G>TCA693117454WNK1c.5448+5G>T (n.5448+5G>T)
c.6204+5G>T (n.6204+5G>T)
c.4227+5G>T (n.4227+5G>T)
c.2895+5G>T (n.2895+5G>T)
c.6687+5G>T (n.6687+5G>T)
c.4707+5G>T (n.4707+5G>T)
c.6228+5G>T (n.6228+5G>T)
c.5445+5G>T (n.5445+5G>T)
c.6684+5G>T (n.6684+5G>T)
c.6408+5G>T (n.6408+5G>T)
c.6225+5G>T (n.6225+5G>T)
c.5949+5G>T (n.5949+5G>T)
c.5946+5G>T (n.5946+5G>T)
c.5466+5G>T (n.5466+5G>T)
c.5364+5G>T (n.5364+5G>T)
c.5361+5G>T (n.5361+5G>T)
c.4626+5G>T (n.4626+5G>T)
c.4623+5G>T (n.4623+5G>T)
c.4986+5G>T (n.4986+5G>T)
c.4905+5G>T (n.4905+5G>T)
c.4902+5G>T (n.4902+5G>T)
c.4710+5G>T (n.4710+5G>T)
dbSNP
12g.889229T>ACA693117455WNK1c.5448+6T>A (n.5448+6T>A)
c.6204+6T>A (n.6204+6T>A)
c.4227+6T>A (n.4227+6T>A)
c.2895+6T>A (n.2895+6T>A)
c.6687+6T>A (n.6687+6T>A)
c.4707+6T>A (n.4707+6T>A)
c.6228+6T>A (n.6228+6T>A)
c.5445+6T>A (n.5445+6T>A)
c.6684+6T>A (n.6684+6T>A)
c.6408+6T>A (n.6408+6T>A)
c.6225+6T>A (n.6225+6T>A)
c.5949+6T>A (n.5949+6T>A)
c.5946+6T>A (n.5946+6T>A)
c.5466+6T>A (n.5466+6T>A)
c.5364+6T>A (n.5364+6T>A)
c.5361+6T>A (n.5361+6T>A)
c.4626+6T>A (n.4626+6T>A)
c.4623+6T>A (n.4623+6T>A)
c.4986+6T>A (n.4986+6T>A)
c.4905+6T>A (n.4905+6T>A)
c.4902+6T>A (n.4902+6T>A)
c.4710+6T>A (n.4710+6T>A)
dbSNP
12g.889229T=CA2011734454WNK1c.5448+6T= (n.5448+6T=)
c.6204+6T= (n.6204+6T=)
c.4227+6T= (n.4227+6T=)
c.2895+6T= (n.2895+6T=)
c.6687+6T= (n.6687+6T=)
c.4707+6T= (n.4707+6T=)
c.6228+6T= (n.6228+6T=)
c.5445+6T= (n.5445+6T=)
c.6684+6T= (n.6684+6T=)
c.6408+6T= (n.6408+6T=)
c.6225+6T= (n.6225+6T=)
c.5949+6T= (n.5949+6T=)
c.5946+6T= (n.5946+6T=)
c.5466+6T= (n.5466+6T=)
c.5364+6T= (n.5364+6T=)
c.5361+6T= (n.5361+6T=)
c.4626+6T= (n.4626+6T=)
c.4623+6T= (n.4623+6T=)
c.4986+6T= (n.4986+6T=)
c.4905+6T= (n.4905+6T=)
c.4902+6T= (n.4902+6T=)
c.4710+6T= (n.4710+6T=)
12g.889231T>CCA693117458WNK1c.5448+8T>C (n.5448+8T>C)
c.6204+8T>C (n.6204+8T>C)
c.4227+8T>C (n.4227+8T>C)
c.2895+8T>C (n.2895+8T>C)
c.6687+8T>C (n.6687+8T>C)
c.4707+8T>C (n.4707+8T>C)
c.6228+8T>C (n.6228+8T>C)
c.5445+8T>C (n.5445+8T>C)
c.6684+8T>C (n.6684+8T>C)
c.6408+8T>C (n.6408+8T>C)
c.6225+8T>C (n.6225+8T>C)
c.5949+8T>C (n.5949+8T>C)
c.5946+8T>C (n.5946+8T>C)
c.5466+8T>C (n.5466+8T>C)
c.5364+8T>C (n.5364+8T>C)
c.5361+8T>C (n.5361+8T>C)
c.4626+8T>C (n.4626+8T>C)
c.4623+8T>C (n.4623+8T>C)
c.4986+8T>C (n.4986+8T>C)
c.4905+8T>C (n.4905+8T>C)
c.4902+8T>C (n.4902+8T>C)
c.4710+8T>C (n.4710+8T>C)
dbSNP gnomAD v3 gnomAD v4
12g.889231T=CA2011734456WNK1c.5448+8T= (n.5448+8T=)
c.6204+8T= (n.6204+8T=)
c.4227+8T= (n.4227+8T=)
c.2895+8T= (n.2895+8T=)
c.6687+8T= (n.6687+8T=)
c.4707+8T= (n.4707+8T=)
c.6228+8T= (n.6228+8T=)
c.5445+8T= (n.5445+8T=)
c.6684+8T= (n.6684+8T=)
c.6408+8T= (n.6408+8T=)
c.6225+8T= (n.6225+8T=)
c.5949+8T= (n.5949+8T=)
c.5946+8T= (n.5946+8T=)
c.5466+8T= (n.5466+8T=)
c.5364+8T= (n.5364+8T=)
c.5361+8T= (n.5361+8T=)
c.4626+8T= (n.4626+8T=)
c.4623+8T= (n.4623+8T=)
c.4986+8T= (n.4986+8T=)
c.4905+8T= (n.4905+8T=)
c.4902+8T= (n.4902+8T=)
c.4710+8T= (n.4710+8T=)
12g.889233G>TCA2617008157WNK1c.5448+10G>T (n.5448+10G>T)
c.6204+10G>T (n.6204+10G>T)
c.4227+10G>T (n.4227+10G>T)
c.2895+10G>T (n.2895+10G>T)
c.6687+10G>T (n.6687+10G>T)
c.4707+10G>T (n.4707+10G>T)
c.6228+10G>T (n.6228+10G>T)
c.5445+10G>T (n.5445+10G>T)
c.6684+10G>T (n.6684+10G>T)
c.6408+10G>T (n.6408+10G>T)
c.6225+10G>T (n.6225+10G>T)
c.5949+10G>T (n.5949+10G>T)
c.5946+10G>T (n.5946+10G>T)
c.5466+10G>T (n.5466+10G>T)
c.5364+10G>T (n.5364+10G>T)
c.5361+10G>T (n.5361+10G>T)
c.4626+10G>T (n.4626+10G>T)
c.4623+10G>T (n.4623+10G>T)
c.4986+10G>T (n.4986+10G>T)
c.4905+10G>T (n.4905+10G>T)
c.4902+10G>T (n.4902+10G>T)
c.4710+10G>T (n.4710+10G>T)
gnomAD v4

Number of alleles fetched