Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.889134A= | CA2011734325 | WNK1 | c.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=) | |
12 | g.889134A>G | CA943954677 | WNK1 | c.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 |
12 | g.889136T>G | CA2617008156 | WNK1 | c.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 |
12 | g.889137C= | CA2011734326 | WNK1 | c.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=) | |
12 | g.889137C>G | CA602648851 | WNK1 | c.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 |
12 | g.889138A>C | CA383333166 | WNK1 | c.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) | |
12 | g.889138A>G | CA383333167 | WNK1 | c.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) | |
12 | g.889138A>T | CA383333165 | WNK1 | c.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) | |
12 | g.889139G>A | CA383333168 | WNK1 | c.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 |
12 | g.889139G>C | CA383333169 | WNK1 | c.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 |
12 | g.889139G= | CA2011734327 | WNK1 | c.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=) | |
12 | g.889139G>T | CA383333170 | WNK1 | c.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) | |
12 | g.889140T>A | CA383333171 | WNK1 | c.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) | |
12 | g.889140T>C | CA383333172 | WNK1 | c.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) | |
12 | g.889140T>G | CA383333173 | WNK1 | c.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) | |
12 | g.889141C>A | CA383333174 | WNK1 | c.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 |
12 | g.889141C>G | CA383333175 | WNK1 | c.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 |
12 | g.889141C>T | CA383333176 | WNK1 | c.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) | |
12 | g.889142C>A | CA477851746 | WNK1 | c.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=) | |
12 | g.889142C>G | CA477851747 | WNK1 | c.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 |
12 | g.889142C>T | CA477851748 | WNK1 | c.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 |
12 | g.889143C>A | CA383333177 | WNK1 | c.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) | |
12 | g.889143C>G | CA383333178 | WNK1 | c.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) | |
12 | g.889143C>T | CA383333179 | WNK1 | c.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) | |
12 | g.889144A= | CA2011734328 | WNK1 | c.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=) | |
12 | g.889144A>C | CA383333181 | WNK1 | c.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) | |
12 | g.889144A>G | CA6383155 | WNK1 | c.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 |
12 | g.889144A>T | CA383333180 | WNK1 | c.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) | |
12 | g.889145G>A | CA477851752 | WNK1 | c.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=) | |
12 | g.889145G>C | CA6383156 | WNK1 | c.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 |
12 | g.889145G= | CA2011734332 | WNK1 | c.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=) | |
12 | g.889145G>T | CA10638726 | WNK1 | c.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 |
12 | g.889146C>A | CA383333182 | WNK1 | c.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 |
12 | g.889146C>G | CA383333183 | WNK1 | c.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) | |
12 | g.889146C>T | CA383333184 | WNK1 | c.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) | |
12 | g.889147A>C | CA383333187 | WNK1 | c.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) | |
12 | g.889147A>G | CA383333185 | WNK1 | c.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) | |
12 | g.889147A>T | CA383333186 | WNK1 | c.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) | |
12 | g.889148A= | CA2011734334 | WNK1 | c.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=) | |
12 | g.889148A>C | CA6383157 | WNK1 | c.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 |
12 | g.889148A>G | CA477851754 | WNK1 | c.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 |
12 | g.889148A>T | CA383333188 | WNK1 | c.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) | |
12 | g.889149C>A | CA383333189 | WNK1 | c.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 |
12 | g.889149C>G | CA383333190 | WNK1 | c.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) | |
12 | g.889149C>T | CA383333191 | WNK1 | c.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) | |
12 | g.889150C>A | CA383333194 | WNK1 | c.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) | |
12 | g.889150C= | CA2011734336 | WNK1 | c.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=) | |
12 | g.889150C>G | CA383333193 | WNK1 | c.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) | |
12 | g.889150C>T | CA383333192 | WNK1 | c.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 |
12 | g.889151T>A | CA477851756 | WNK1 | c.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=) | |
12 | g.889151T>C | CA477851758 | WNK1 | c.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=) | |
12 | g.889151T>G | CA477851759 | WNK1 | c.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=) | |
12 | g.889152C>A | CA383333195 | WNK1 | c.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) | |
12 | g.889152C>G | CA383333196 | WNK1 | c.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) | |
12 | g.889152C>T | CA477851760 | WNK1 | c.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=) | |
12 | g.889153T>A | CA383333197 | WNK1 | c.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) | |
12 | g.889153T>C | CA383333199 | WNK1 | c.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 |
12 | g.889153T>G | CA383333198 | WNK1 | c.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) | |
12 | g.889154A= | CA2011734338 | WNK1 | c.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=) | |
12 | g.889154A>C | CA477851761 | WNK1 | c.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=) | |
12 | g.889154A>G | CA477851762 | WNK1 | c.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 |
12 | g.889154A>T | CA477851763 | WNK1 | c.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=) | |
12 | g.889155G>A | CA383333200 | WNK1 | c.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) | |
12 | g.889155G>C | CA383333201 | WNK1 | c.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 |
12 | g.889155G= | CA2011734340 | WNK1 | c.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=) | |
12 | g.889155G>T | CA383333202 | WNK1 | c.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) | |
12 | g.889156A= | CA2011734342 | WNK1 | c.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=) | |
12 | g.889156A>C | CA383333203 | WNK1 | c.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) | |
12 | g.889156A>G | CA231482334 | WNK1 | c.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 |
12 | g.889156A>T | CA383333204 | WNK1 | c.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) | |
12 | g.889157G>A | CA477851767 | WNK1 | c.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=) | |
12 | g.889157G>C | CA383333205 | WNK1 | c.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) | |
12 | g.889157G>T | CA383333206 | WNK1 | c.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) | |
12 | g.889158G>A | CA383333207 | WNK1 | c.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) | |
12 | g.889158G>C | CA383333208 | WNK1 | c.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) | |
12 | g.889158G>T | CA383333209 | WNK1 | c.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) | |
12 | g.889159A>C | CA383333212 | WNK1 | c.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) | |
12 | g.889159A>G | CA383333211 | WNK1 | c.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) | |
12 | g.889159A>T | CA383333210 | WNK1 | c.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) | |
12 | g.889160T>A | CA383333213 | WNK1 | c.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 |
12 | g.889160T>C | CA477851769 | WNK1 | c.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=) | |
12 | g.889160T>G | CA383333214 | WNK1 | c.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) | |
12 | g.889161C>A | CA383333215 | WNK1 | c.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) | |
12 | g.889161C>G | CA383333216 | WNK1 | c.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) | |
12 | g.889161C>T | CA383333217 | WNK1 | c.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) | |
12 | g.889162T>A | CA383333218 | WNK1 | c.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) | |
12 | g.889162T>C | CA6383158 | WNK1 | c.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 |
12 | g.889162T>G | CA383333219 | WNK1 | c.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) | |
12 | g.889162T= | CA2011734344 | WNK1 | c.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=) | |
12 | g.889163T>A | CA477851772 | WNK1 | c.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=) | |
12 | g.889163T>C | CA477851773 | WNK1 | c.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=) | |
12 | g.889163T>G | CA477851774 | WNK1 | c.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=) | |
12 | g.889164G>A | CA383333220 | WNK1 | c.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) | |
12 | g.889164G>C | CA383333221 | WNK1 | c.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) | |
12 | g.889164G>T | CA383333222 | WNK1 | c.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) | |
12 | g.889165A= | CA2011734346 | WNK1 | c.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=) | |
12 | g.889165A>C | CA383333224 | WNK1 | c.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) | |
12 | g.889165A>G | CA383333223 | WNK1 | c.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) | |
12 | g.889165A>T | CA6383159 | WNK1 | c.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 |
12 | g.889166T>A | CA383333225 | WNK1 | c.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) | |
12 | g.889166T>C | CA477851777 | WNK1 | c.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=) | |
12 | g.889166T>G | CA383333226 | WNK1 | c.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) | |
12 | g.889167G>A | CA383333227 | WNK1 | c.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) | |
12 | g.889167G>C | CA383333228 | WNK1 | c.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) | |
12 | g.889167G= | CA2011734348 | WNK1 | c.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=) | |
12 | g.889167G>T | CA383333229 | WNK1 | c.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 |
12 | g.889168C>A | CA383333230 | WNK1 | c.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) | |
12 | g.889168C>G | CA383333231 | WNK1 | c.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) | |
12 | g.889168C>T | CA383333232 | WNK1 | c.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) | |
12 | g.889169T>A | CA477851778 | WNK1 | c.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=) | |
12 | g.889169T>C | CA477851780 | WNK1 | c.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 |
12 | g.889169T>G | CA477851779 | WNK1 | c.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=) | |
12 | g.889169T= | CA2011734350 | WNK1 | c.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=) | |
12 | g.889170C>A | CA383333233 | WNK1 | c.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) | |
12 | g.889170C>G | CA383333234 | WNK1 | c.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 |
12 | g.889170C>T | CA383333235 | WNK1 | c.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) | |
12 | g.889171A= | CA2011734353 | WNK1 | c.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=) | |
12 | g.889171A>C | CA383333238 | WNK1 | c.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) | |
12 | g.889171A>G | CA383333237 | WNK1 | c.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 |
12 | g.889171A>T | CA383333236 | WNK1 | c.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) | |
12 | g.889172A= | CA2011734357 | WNK1 | c.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=) | |
12 | g.889172A>C | CA383333239 | WNK1 | c.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 |
12 | g.889172A>G | CA6383160 | WNK1 | c.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 |
12 | g.889172A>T | CA383333240 | WNK1 | c.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) | |
12 | g.889173T>A | CA383333241 | WNK1 | c.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) | |
12 | g.889173T>C | CA6383161 | WNK1 | c.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 |
12 | g.889173T>G | CA383333242 | WNK1 | c.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) | |
12 | g.889173T= | CA2011734363 | WNK1 | c.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=) | |
12 | g.889174T>A | CA383333243 | WNK1 | c.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) | |
12 | g.889174T>C | CA383333244 | WNK1 | c.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) | |
12 | g.889174T>G | CA383333245 | WNK1 | c.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) | |
12 | g.889175G>A | CA477851781 | WNK1 | c.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=) | |
12 | g.889175G>C | CA383333246 | WNK1 | c.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 |
12 | g.889175G= | CA2011734367 | WNK1 | c.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=) | |
12 | g.889175G>T | CA383333247 | WNK1 | c.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) | |
12 | g.889176A>C | CA477851783 | WNK1 | c.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=) | |
12 | g.889176A>G | CA383333248 | WNK1 | c.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) | |
12 | g.889176A>T | CA383333249 | WNK1 | c.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) | |
12 | g.889177G>A | CA383333251 | WNK1 | c.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) | |
12 | g.889177G>C | CA383333252 | WNK1 | c.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) | |
12 | g.889177G= | CA2011734370 | WNK1 | c.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=) | |
12 | g.889177G>T | CA383333250 | WNK1 | c.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 |
12 | g.889178A>C | CA383333254 | WNK1 | c.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) | |
12 | g.889178A>G | CA477851784 | WNK1 | c.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=) | |
12 | g.889178A>T | CA383333253 | WNK1 | c.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) | |
12 | g.889179A= | CA2011734372 | WNK1 | c.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=) | |
12 | g.889179A>C | CA477851785 | WNK1 | c.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=) | |
12 | g.889179A>G | CA383333255 | WNK1 | c.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 |
12 | g.889179A>T | CA383333256 | WNK1 | c.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) | |
12 | g.889180G>A | CA383333257 | WNK1 | c.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) | |
12 | g.889180G>C | CA383333258 | WNK1 | c.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) | |
12 | g.889180G>T | CA383333259 | WNK1 | c.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) | |
12 | g.889180_889181insTCTT | CA2569838557 | WNK1 | c.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) | |
12 | g.889181A>C | CA383333260 | WNK1 | c.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) | |
12 | g.889181A>G | CA477851788 | WNK1 | c.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=) | |
12 | g.889181A>T | CA383333261 | WNK1 | c.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) | |
12 | g.889182_889184del | CA2514868657 | WNK1 | c.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) | |
12 | g.889181_889182insTTACATTCTATGTTTGATGTT | CA2568840204 | WNK1 | c.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) | |
12 | g.889182A= | CA2011734377 | WNK1 | c.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=) | |
12 | g.889182A>C | CA383333262 | WNK1 | c.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) | |
12 | g.889182A>G | CA6383162 | WNK1 | c.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 |
12 | g.889182A>T | CA383333263 | WNK1 | c.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) | |
12 | g.889183C>A | CA383333264 | WNK1 | c.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) | |
12 | g.889183C= | CA2011734379 | WNK1 | c.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=) | |
12 | g.889183C>G | CA383333265 | WNK1 | c.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 |
12 | g.889183C>T | CA383333266 | WNK1 | c.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) | |
12 | g.889184A= | CA2011734382 | WNK1 | c.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=) | |
12 | g.889184A>C | CA6383164 | WNK1 | c.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 |
12 | g.889184A>G | CA6383163 | WNK1 | c.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 |
12 | g.889184A>T | CA477851789 | WNK1 | c.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 |
12 | g.889185C>A | CA383333267 | WNK1 | c.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) | |
12 | g.889185C= | CA2011734390 | WNK1 | c.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=) | |
12 | g.889185C>G | CA6383165 | WNK1 | c.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 |
12 | g.889185C>T | CA383333268 | WNK1 | c.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) | |
12 | g.889186T>A | CA383333269 | WNK1 | c.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) | |
12 | g.889186T>C | CA383333270 | WNK1 | c.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) | |
12 | g.889186T>G | CA383333271 | WNK1 | c.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) | |
12 | g.889187T>A | CA477851791 | WNK1 | c.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=) | |
12 | g.889187T>C | CA477851792 | WNK1 | c.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=) | |
12 | g.889187T>G | CA477851793 | WNK1 | c.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=) | |
12 | g.889188A>C | CA383333272 | WNK1 | c.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) | |
12 | g.889188A>G | CA383333273 | WNK1 | c.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) | |
12 | g.889188A>T | CA383333274 | WNK1 | c.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) | |
12 | g.889189G>A | CA383333275 | WNK1 | c.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) | |
12 | g.889189G>C | CA383333276 | WNK1 | c.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) | |
12 | g.889189G>T | CA383333277 | WNK1 | c.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) | |
12 | g.889190T>A | CA383333279 | WNK1 | c.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) | |
12 | g.889190T>C | CA477851795 | WNK1 | c.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=) | |
12 | g.889190T>G | CA383333278 | WNK1 | c.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) | |
12 | g.889191C>A | CA383333280 | WNK1 | c.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) | |
12 | g.889191C>G | CA383333281 | WNK1 | c.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) | |
12 | g.889191C>T | CA383333282 | WNK1 | c.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) | |
12 | g.889192C>A | CA383333283 | WNK1 | c.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) | |
12 | g.889192C>G | CA383333284 | WNK1 | c.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) | |
12 | g.889192C>T | CA383333285 | WNK1 | c.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) | |
12 | g.889193A= | CA2011734394 | WNK1 | c.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=) | |
12 | g.889193A>C | CA477851796 | WNK1 | c.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 |
12 | g.889193A>G | CA6383166 | WNK1 | c.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 |
12 | g.889193A>T | CA477851797 | WNK1 | c.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=) | |
12 | g.889194G>A | CA383333288 | WNK1 | c.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) | |
12 | g.889194G>C | CA383333286 | WNK1 | c.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 |
12 | g.889194G>T | CA383333287 | WNK1 | c.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) | |
12 | g.889195A= | CA2011734399 | WNK1 | c.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=) | |
12 | g.889195A>C | CA383333289 | WNK1 | c.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 |
12 | g.889195A>G | CA383333290 | WNK1 | c.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 |
12 | g.889195A>T | CA383333291 | WNK1 | c.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) | |
12 | g.889196G>A | CA477851800 | WNK1 | c.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=) | |
12 | g.889196G>C | CA383333292 | WNK1 | c.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 |
12 | g.889196G>T | CA383333293 | WNK1 | c.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) | |
12 | g.889197A>C | CA383333294 | WNK1 | c.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) | |
12 | g.889197A>G | CA383333296 | WNK1 | c.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 |
12 | g.889197A>T | CA383333295 | WNK1 | c.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) | |
12 | g.889198T>A | CA383333297 | WNK1 | c.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) | |
12 | g.889198T>C | CA383333298 | WNK1 | c.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) | |
12 | g.889198T>G | CA383333299 | WNK1 | c.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) | |
12 | g.889199G>A | CA383333300 | WNK1 | c.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) | |
12 | g.889199G>C | CA383333301 | WNK1 | c.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) | |
12 | g.889199G= | CA2011734403 | WNK1 | c.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=) | |
12 | g.889199G>T | CA6383167 | WNK1 | c.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 |
12 | g.889200A>C | CA383333302 | WNK1 | c.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) | |
12 | g.889200A>G | CA383333303 | WNK1 | c.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) | |
12 | g.889200A>T | CA383333304 | WNK1 | c.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) | |
12 | g.889201T>A | CA383333305 | WNK1 | c.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 |
12 | g.889201T>C | CA383333306 | WNK1 | c.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) | |
12 | g.889201T>G | CA383333307 | WNK1 | c.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) | |
12 | g.889202C>A | CA477851804 | WNK1 | c.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=) | |
12 | g.889202C>G | CA383333308 | WNK1 | c.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) | |
12 | g.889202C>T | CA477851806 | WNK1 | c.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=) | |
12 | g.889203A>C | CA383333310 | WNK1 | c.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) | |
12 | g.889203A>G | CA383333309 | WNK1 | c.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) | |
12 | g.889203A>T | CA383333311 | WNK1 | c.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) | |
12 | g.889204C>A | CA383333312 | WNK1 | c.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) | |
12 | g.889204C= | CA2011734410 | WNK1 | c.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=) | |
12 | g.889204C>G | CA231482380 | WNK1 | c.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 |
12 | g.889204C>T | CA383333313 | WNK1 | c.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) | |
12 | g.889205A>C | CA477851807 | WNK1 | c.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=) | |
12 | g.889205A>G | CA477851809 | WNK1 | c.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 |
12 | g.889205A>T | CA477851808 | WNK1 | c.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=) | |
12 | g.889206G>A | CA231482392 | WNK1 | c.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 |
12 | g.889206G>C | CA383333315 | WNK1 | c.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) | |
12 | g.889206G= | CA2011734412 | WNK1 | c.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=) | |
12 | g.889206G>T | CA383333314 | WNK1 | c.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 |
12 | g.889207T>A | CA383333316 | WNK1 | c.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) | |
12 | g.889207T>C | CA383333318 | WNK1 | c.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) | |
12 | g.889207T>G | CA383333317 | WNK1 | c.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) | |
12 | g.889208G>A | CA477851810 | WNK1 | c.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=) | |
12 | g.889208G>C | CA477851812 | WNK1 | c.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=) | |
12 | g.889208G>T | CA477851813 | WNK1 | c.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=) | |
12 | g.889209A= | CA2011734415 | WNK1 | c.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=) | |
12 | g.889209A>C | CA383333319 | WNK1 | c.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) | |
12 | g.889209A>G | CA383333320 | WNK1 | c.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) | |
12 | g.889209A>T | CA6383168 | WNK1 | c.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 |
12 | g.889210C>A | CA383333321 | WNK1 | c.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) | |
12 | g.889210C= | CA2011734417 | WNK1 | c.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=) | |
12 | g.889210C>G | CA383333322 | WNK1 | c.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 |
12 | g.889210C>T | CA383333323 | WNK1 | c.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 |
12 | g.889211T>A | CA477851814 | WNK1 | c.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=) | |
12 | g.889211T>C | CA477851815 | WNK1 | c.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=) | |
12 | g.889211T>G | CA477851816 | WNK1 | c.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 |
12 | g.889211T= | CA2011734420 | WNK1 | c.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=) | |
12 | g.889212T>A | CA383333324 | WNK1 | c.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) | |
12 | g.889212T>C | CA383333325 | WNK1 | c.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) | |
12 | g.889212T>G | CA383333326 | WNK1 | c.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) | |
12 | g.889213C>A | CA383333327 | WNK1 | c.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) | |
12 | g.889213C= | CA2011734423 | WNK1 | c.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=) | |
12 | g.889213C>G | CA383333328 | WNK1 | c.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) | |
12 | g.889213C>T | CA383333329 | WNK1 | c.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 |
12 | g.889214T>A | CA477851817 | WNK1 | c.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=) | |
12 | g.889214T>C | CA477851818 | WNK1 | c.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=) | |
12 | g.889214T>G | CA477851819 | WNK1 | c.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=) | |
12 | g.889215G>A | CA383333332 | WNK1 | c.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 |
12 | g.889215G>C | CA383333330 | WNK1 | c.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 |
12 | g.889215G= | CA2011734426 | WNK1 | c.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=) | |
12 | g.889215G>T | CA383333331 | WNK1 | c.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) | |
12 | g.889216C>A | CA383333333 | WNK1 | c.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) | |
12 | g.889216C= | CA2011734428 | WNK1 | c.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=) | |
12 | g.889216C>G | CA383333334 | WNK1 | c.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) | |
12 | g.889216C>T | CA231482398 | WNK1 | c.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 |
12 | g.889217G>A | CA6383169 | WNK1 | c.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 |
12 | g.889217G>C | CA477851822 | WNK1 | c.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=) | |
12 | g.889217G= | CA2011734433 | WNK1 | c.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=) | |
12 | g.889217G>T | CA477851821 | WNK1 | c.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=) | |
12 | g.889218G>A | CA6383170 | WNK1 | c.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 |
12 | g.889218G>C | CA383333335 | WNK1 | c.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) | |
12 | g.889218G= | CA2011734437 | WNK1 | c.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=) | |
12 | g.889218G>T | CA383333336 | WNK1 | c.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) | |
12 | g.889219T>A | CA383333337 | WNK1 | c.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) | |
12 | g.889219T>C | CA383333338 | WNK1 | c.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 |
12 | g.889219T>G | CA383333339 | WNK1 | c.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) | |
12 | g.889219T= | CA2011734440 | WNK1 | c.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=) | |
12 | g.889220T>A | CA477851826 | WNK1 | c.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=) | |
12 | g.889220T>C | CA477851824 | WNK1 | c.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=) | |
12 | g.889220T>G | CA477851825 | WNK1 | c.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=) | |
12 | g.889221G>A | CA383333342 | WNK1 | c.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 |
12 | g.889221G>C | CA383333341 | WNK1 | c.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) | |
12 | g.889221G>T | CA383333340 | WNK1 | c.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) | |
12 | g.889222G>A | CA383333343 | WNK1 | c.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) | |
12 | g.889222G>C | CA383333344 | WNK1 | c.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 |
12 | g.889222G= | CA2011734443 | WNK1 | c.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=) | |
12 | g.889222G>T | CA383333345 | WNK1 | c.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 |
12 | g.889223T>A | CA477851827 | WNK1 | c.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=) | |
12 | g.889223T>C | CA477851829 | WNK1 | c.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=) | |
12 | g.889223T>G | CA477851831 | WNK1 | c.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=) | |
12 | g.889224G>A | CA383333346 | WNK1 | c.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) | |
12 | g.889224G>C | CA383333347 | WNK1 | c.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) | |
12 | g.889224G= | CA2011734445 | WNK1 | c.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=) | |
12 | g.889224G>T | CA383333348 | WNK1 | c.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 |
12 | g.889225T>A | CA383333349 | WNK1 | c.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) | |
12 | g.889225T>C | CA383333350 | WNK1 | c.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) | |
12 | g.889225T>G | CA383333351 | WNK1 | c.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 |
12 | g.889225dup | CA6383171 | WNK1 | c.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 |
12 | g.889226A>G | CA2509612595 | WNK1 | c.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) | |
12 | g.889227A>C | CA2794265234 | WNK1 | c.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) | |
12 | g.889228G>A | CA477851833 | WNK1 | c.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 |
12 | g.889228G>C | CA2575041140 | WNK1 | c.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) | |
12 | g.889228G= | CA2011734452 | WNK1 | c.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=) | |
12 | g.889228G>T | CA693117454 | WNK1 | c.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 |
12 | g.889229T>A | CA693117455 | WNK1 | c.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 |
12 | g.889229T= | CA2011734454 | WNK1 | c.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=) | |
12 | g.889231T>C | CA693117458 | WNK1 | c.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 |
12 | g.889231T= | CA2011734456 | WNK1 | c.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=) | |
12 | g.889233G>T | CA2617008157 | WNK1 | c.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 |