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Items: 1 to 20 of 1893

1.

rs1490866479 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    12:880984 (GRCh38)
    12:990150 (GRCh37)
    Canonical SPDI:
    NC_000012.12:880983:G:T
    Gene:
    WNK1 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000008/2 (TOPMED)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000012.12:g.880984G>T, NC_000012.11:g.990150G>T, NG_007984.3:g.132926G>T, NM_018979.4:c.3096G>T, NM_018979.3:c.3096G>T, NM_001184985.2:c.3876G>T, NM_001184985.1:c.3876G>T, XM_011520997.4:c.4335G>T, XM_011520997.3:c.4335G>T, XM_011520997.2:c.4335G>T, XM_011520997.1:c.4335G>T, XM_011520999.3:c.4335G>T, XM_011520999.2:c.4335G>T, XM_011520999.1:c.4335G>T, XM_011520998.3:c.4332G>T, XM_011520998.2:c.4332G>T, XM_011520998.1:c.4332G>T, XM_011521000.3:c.4335G>T, XM_011521000.2:c.4335G>T, XM_011521000.1:c.4335G>T, XM_011521002.3:c.3873G>T, XM_011521002.2:c.3873G>T, XM_011521002.1:c.3873G>T, XM_006719003.3:c.3093G>T, XM_006719003.2:c.3093G>T, XM_006719003.1:c.3093G>T, XM_011521006.3:c.3012G>T, XM_011521006.2:c.3012G>T, XM_011521006.1:c.3012G>T, XM_011521007.3:c.3009G>T, XM_011521007.2:c.3009G>T, XM_011521007.1:c.3009G>T, XM_017019834.2:c.2634G>T, XM_017019834.1:c.2634G>T, XM_017019835.2:c.2553G>T, XM_017019835.1:c.2553G>T, XM_017019836.2:c.2550G>T, XM_017019836.1:c.2550G>T, XM_047429374.1:c.4335G>T, XM_047429376.1:c.3876G>T, XM_047429377.1:c.3096G>T, XM_047429378.1:c.3093G>T, XM_047429379.1:c.3012G>T, XM_047429381.1:c.3012G>T, XM_047429388.1:c.2637G>T, XM_047429389.1:c.2637G>T, XM_047429390.1:c.2634G>T, XM_047429391.1:c.2553G>T, XM_047429392.1:c.2550G>T, XM_047429393.1:c.2637G>T, XM_047429394.1:c.2553G>T, XM_047429397.1:c.2553G>T, XM_047429396.1:c.2550G>T, NP_061852.3:p.Gln1032His, NP_001171914.1:p.Gln1292His, XP_011519299.1:p.Gln1445His, XP_011519301.1:p.Gln1445His, XP_011519300.1:p.Gln1444His, XP_011519302.1:p.Gln1445His, XP_011519304.1:p.Gln1291His, XP_006719066.1:p.Gln1031His, XP_011519308.1:p.Gln1004His, XP_011519309.1:p.Gln1003His, XP_016875323.1:p.Gln878His, XP_016875324.1:p.Gln851His, XP_016875325.1:p.Gln850His, XP_047285330.1:p.Gln1445His, XP_047285332.1:p.Gln1292His, XP_047285333.1:p.Gln1032His, XP_047285334.1:p.Gln1031His, XP_047285335.1:p.Gln1004His, XP_047285337.1:p.Gln1004His, XP_047285344.1:p.Gln879His, XP_047285345.1:p.Gln879His, XP_047285346.1:p.Gln878His, XP_047285347.1:p.Gln851His, XP_047285348.1:p.Gln850His, XP_047285349.1:p.Gln879His, XP_047285350.1:p.Gln851His, XP_047285353.1:p.Gln851His, XP_047285352.1:p.Gln850His

    2.

    rs1490394490 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:885811 (GRCh38)
      12:994977 (GRCh37)
      Canonical SPDI:
      NC_000012.12:885810:T:C
      Gene:
      WNK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.885811T>C, NC_000012.11:g.994977T>C, NG_007984.3:g.137753T>C, NM_213655.5:c.5763T>C, NM_213655.4:c.5763T>C, NM_018979.4:c.5007T>C, NM_018979.3:c.5007T>C, NM_014823.3:c.4266T>C, NM_014823.2:c.4266T>C, NM_001184985.2:c.5787T>C, NM_001184985.1:c.5787T>C, XM_011520997.4:c.6246T>C, XM_011520997.3:c.6246T>C, XM_011520997.2:c.6246T>C, XM_011520997.1:c.6246T>C, XM_011520999.3:c.6246T>C, XM_011520999.2:c.6246T>C, XM_011520999.1:c.6246T>C, XM_011520998.3:c.6243T>C, XM_011520998.2:c.6243T>C, XM_011520998.1:c.6243T>C, XM_011521000.3:c.6246T>C, XM_011521000.2:c.6246T>C, XM_011521000.1:c.6246T>C, XM_011521001.3:c.5967T>C, XM_011521001.2:c.5967T>C, XM_011521001.1:c.5967T>C, XM_011521002.3:c.5784T>C, XM_011521002.2:c.5784T>C, XM_011521002.1:c.5784T>C, XM_011521003.3:c.5508T>C, XM_011521003.2:c.5508T>C, XM_011521003.1:c.5508T>C, XM_006719003.3:c.5004T>C, XM_006719003.2:c.5004T>C, XM_006719003.1:c.5004T>C, XM_011521006.3:c.4923T>C, XM_011521006.2:c.4923T>C, XM_011521006.1:c.4923T>C, XM_011521007.3:c.4920T>C, XM_011521007.2:c.4920T>C, XM_011521007.1:c.4920T>C, XM_011521008.3:c.4185T>C, XM_011521008.2:c.4185T>C, XM_011521008.1:c.4185T>C, XM_011521009.3:c.4182T>C, XM_011521009.2:c.4182T>C, XM_011521009.1:c.4182T>C, XM_017019834.2:c.4545T>C, XM_017019834.1:c.4545T>C, XM_017019835.2:c.4464T>C, XM_017019835.1:c.4464T>C, XM_017019836.2:c.4461T>C, XM_017019836.1:c.4461T>C, XM_017019837.2:c.4269T>C, XM_017019837.1:c.4269T>C, XM_017019838.2:c.4266T>C, XM_017019838.1:c.4266T>C, XM_047429374.1:c.6246T>C, XM_047429375.1:c.5967T>C, XM_047429376.1:c.5787T>C, XM_047429377.1:c.5007T>C, XM_047429378.1:c.5004T>C, XM_047429379.1:c.4923T>C, XM_047429381.1:c.4923T>C, XM_047429380.1:c.4728T>C, XM_047429383.1:c.4728T>C, XM_047429382.1:c.4725T>C, XM_047429384.1:c.4725T>C, XM_047429385.1:c.4644T>C, XM_047429386.1:c.4641T>C, XM_047429387.1:c.4641T>C, XM_047429388.1:c.4548T>C, XM_047429389.1:c.4548T>C, XM_047429390.1:c.4545T>C, XM_047429391.1:c.4464T>C, XM_047429392.1:c.4461T>C, XM_047429393.1:c.4548T>C, XM_047429394.1:c.4464T>C, XM_047429397.1:c.4464T>C, XM_047429396.1:c.4461T>C, XM_047429395.1:c.4269T>C, XM_047429398.1:c.4185T>C, XM_047429399.1:c.4182T>C, XM_047429400.1:c.4269T>C, XM_047429401.1:c.4266T>C, XM_047429402.1:c.4266T>C, XM_047429403.1:c.3048T>C

      3.

      rs1490063199 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        12:880736 (GRCh38)
        12:989902 (GRCh37)
        Canonical SPDI:
        NC_000012.12:880735:C:T
        Gene:
        WNK1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000031/1 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000012.12:g.880736C>T, NC_000012.11:g.989902C>T, NG_007984.3:g.132678C>T, NM_018979.4:c.2848C>T, NM_018979.3:c.2848C>T, NM_001184985.2:c.3628C>T, NM_001184985.1:c.3628C>T, XM_011520997.4:c.4087C>T, XM_011520997.3:c.4087C>T, XM_011520997.2:c.4087C>T, XM_011520997.1:c.4087C>T, XM_011520999.3:c.4087C>T, XM_011520999.2:c.4087C>T, XM_011520999.1:c.4087C>T, XM_011520998.3:c.4084C>T, XM_011520998.2:c.4084C>T, XM_011520998.1:c.4084C>T, XM_011521000.3:c.4087C>T, XM_011521000.2:c.4087C>T, XM_011521000.1:c.4087C>T, XM_011521002.3:c.3625C>T, XM_011521002.2:c.3625C>T, XM_011521002.1:c.3625C>T, XM_006719003.3:c.2845C>T, XM_006719003.2:c.2845C>T, XM_006719003.1:c.2845C>T, XM_011521006.3:c.2764C>T, XM_011521006.2:c.2764C>T, XM_011521006.1:c.2764C>T, XM_011521007.3:c.2761C>T, XM_011521007.2:c.2761C>T, XM_011521007.1:c.2761C>T, XM_017019834.2:c.2386C>T, XM_017019834.1:c.2386C>T, XM_017019835.2:c.2305C>T, XM_017019835.1:c.2305C>T, XM_017019836.2:c.2302C>T, XM_017019836.1:c.2302C>T, XM_047429374.1:c.4087C>T, XM_047429376.1:c.3628C>T, XM_047429377.1:c.2848C>T, XM_047429378.1:c.2845C>T, XM_047429379.1:c.2764C>T, XM_047429381.1:c.2764C>T, XM_047429388.1:c.2389C>T, XM_047429389.1:c.2389C>T, XM_047429390.1:c.2386C>T, XM_047429391.1:c.2305C>T, XM_047429392.1:c.2302C>T, XM_047429393.1:c.2389C>T, XM_047429394.1:c.2305C>T, XM_047429397.1:c.2305C>T, XM_047429396.1:c.2302C>T

        4.

        rs1490023753 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          12:884790 (GRCh38)
          12:993956 (GRCh37)
          Canonical SPDI:
          NC_000012.12:884789:C:G,NC_000012.12:884789:C:T
          Gene:
          WNK1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000012.12:g.884790C>G, NC_000012.12:g.884790C>T, NC_000012.11:g.993956C>G, NC_000012.11:g.993956C>T, NG_007984.3:g.136732C>G, NG_007984.3:g.136732C>T, NM_213655.5:c.4742C>G, NM_213655.5:c.4742C>T, NM_213655.4:c.4742C>G, NM_213655.4:c.4742C>T, NM_018979.4:c.3986C>G, NM_018979.4:c.3986C>T, NM_018979.3:c.3986C>G, NM_018979.3:c.3986C>T, NM_014823.3:c.3245C>G, NM_014823.3:c.3245C>T, NM_014823.2:c.3245C>G, NM_014823.2:c.3245C>T, NM_001184985.2:c.4766C>G, NM_001184985.2:c.4766C>T, NM_001184985.1:c.4766C>G, NM_001184985.1:c.4766C>T, XM_011520997.4:c.5225C>G, XM_011520997.4:c.5225C>T, XM_011520997.3:c.5225C>G, XM_011520997.3:c.5225C>T, XM_011520997.2:c.5225C>G, XM_011520997.2:c.5225C>T, XM_011520997.1:c.5225C>G, XM_011520997.1:c.5225C>T, XM_011520999.3:c.5225C>G, XM_011520999.3:c.5225C>T, XM_011520999.2:c.5225C>G, XM_011520999.2:c.5225C>T, XM_011520999.1:c.5225C>G, XM_011520999.1:c.5225C>T, XM_011520998.3:c.5222C>G, XM_011520998.3:c.5222C>T, XM_011520998.2:c.5222C>G, XM_011520998.2:c.5222C>T, XM_011520998.1:c.5222C>G, XM_011520998.1:c.5222C>T, XM_011521000.3:c.5225C>G, XM_011521000.3:c.5225C>T, XM_011521000.2:c.5225C>G, XM_011521000.2:c.5225C>T, XM_011521000.1:c.5225C>G, XM_011521000.1:c.5225C>T, XM_011521001.3:c.4946C>G, XM_011521001.3:c.4946C>T, XM_011521001.2:c.4946C>G, XM_011521001.2:c.4946C>T, XM_011521001.1:c.4946C>G, XM_011521001.1:c.4946C>T, XM_011521002.3:c.4763C>G, XM_011521002.3:c.4763C>T, XM_011521002.2:c.4763C>G, XM_011521002.2:c.4763C>T, XM_011521002.1:c.4763C>G, XM_011521002.1:c.4763C>T, XM_011521003.3:c.4487C>G, XM_011521003.3:c.4487C>T, XM_011521003.2:c.4487C>G, XM_011521003.2:c.4487C>T, XM_011521003.1:c.4487C>G, XM_011521003.1:c.4487C>T, XM_006719003.3:c.3983C>G, XM_006719003.3:c.3983C>T, XM_006719003.2:c.3983C>G, XM_006719003.2:c.3983C>T, XM_006719003.1:c.3983C>G, XM_006719003.1:c.3983C>T, XM_011521006.3:c.3902C>G, XM_011521006.3:c.3902C>T, XM_011521006.2:c.3902C>G, XM_011521006.2:c.3902C>T, XM_011521006.1:c.3902C>G, XM_011521006.1:c.3902C>T, XM_011521007.3:c.3899C>G, XM_011521007.3:c.3899C>T, XM_011521007.2:c.3899C>G, XM_011521007.2:c.3899C>T, XM_011521007.1:c.3899C>G, XM_011521007.1:c.3899C>T, XM_011521008.3:c.3164C>G, XM_011521008.3:c.3164C>T, XM_011521008.2:c.3164C>G, XM_011521008.2:c.3164C>T, XM_011521008.1:c.3164C>G, XM_011521008.1:c.3164C>T, XM_011521009.3:c.3161C>G, XM_011521009.3:c.3161C>T, XM_011521009.2:c.3161C>G, XM_011521009.2:c.3161C>T, XM_011521009.1:c.3161C>G, XM_011521009.1:c.3161C>T, XM_017019834.2:c.3524C>G, XM_017019834.2:c.3524C>T, XM_017019834.1:c.3524C>G, XM_017019834.1:c.3524C>T, XM_017019835.2:c.3443C>G, XM_017019835.2:c.3443C>T, XM_017019835.1:c.3443C>G, XM_017019835.1:c.3443C>T, XM_017019836.2:c.3440C>G, XM_017019836.2:c.3440C>T, XM_017019836.1:c.3440C>G, XM_017019836.1:c.3440C>T, XM_017019837.2:c.3248C>G, XM_017019837.2:c.3248C>T, XM_017019837.1:c.3248C>G, XM_017019837.1:c.3248C>T, XM_017019838.2:c.3245C>G, XM_017019838.2:c.3245C>T, XM_017019838.1:c.3245C>G, XM_017019838.1:c.3245C>T, XM_047429374.1:c.5225C>G, XM_047429374.1:c.5225C>T, XM_047429375.1:c.4946C>G, XM_047429375.1:c.4946C>T, XM_047429376.1:c.4766C>G, XM_047429376.1:c.4766C>T, XM_047429377.1:c.3986C>G, XM_047429377.1:c.3986C>T, XM_047429378.1:c.3983C>G, XM_047429378.1:c.3983C>T, XM_047429379.1:c.3902C>G, XM_047429379.1:c.3902C>T, XM_047429381.1:c.3902C>G, XM_047429381.1:c.3902C>T, XM_047429380.1:c.3707C>G, XM_047429380.1:c.3707C>T, XM_047429383.1:c.3707C>G, XM_047429383.1:c.3707C>T, XM_047429382.1:c.3704C>G, XM_047429382.1:c.3704C>T, XM_047429384.1:c.3704C>G, XM_047429384.1:c.3704C>T, XM_047429385.1:c.3623C>G, XM_047429385.1:c.3623C>T, XM_047429386.1:c.3620C>G, XM_047429386.1:c.3620C>T, XM_047429387.1:c.3620C>G, XM_047429387.1:c.3620C>T, XM_047429388.1:c.3527C>G, XM_047429388.1:c.3527C>T, XM_047429389.1:c.3527C>G, XM_047429389.1:c.3527C>T, XM_047429390.1:c.3524C>G, XM_047429390.1:c.3524C>T, XM_047429391.1:c.3443C>G, XM_047429391.1:c.3443C>T, XM_047429392.1:c.3440C>G, XM_047429392.1:c.3440C>T, XM_047429393.1:c.3527C>G, XM_047429393.1:c.3527C>T, XM_047429394.1:c.3443C>G, XM_047429394.1:c.3443C>T, XM_047429397.1:c.3443C>G, XM_047429397.1:c.3443C>T, XM_047429396.1:c.3440C>G, XM_047429396.1:c.3440C>T, XM_047429395.1:c.3248C>G, XM_047429395.1:c.3248C>T, XM_047429398.1:c.3164C>G, XM_047429398.1:c.3164C>T, XM_047429399.1:c.3161C>G, XM_047429399.1:c.3161C>T, XM_047429400.1:c.3248C>G, XM_047429400.1:c.3248C>T, XM_047429401.1:c.3245C>G, XM_047429401.1:c.3245C>T, XM_047429402.1:c.3245C>G, XM_047429402.1:c.3245C>T, XM_047429403.1:c.2027C>G, XM_047429403.1:c.2027C>T, NP_998820.3:p.Thr1581Arg, NP_998820.3:p.Thr1581Ile, NP_061852.3:p.Thr1329Arg, NP_061852.3:p.Thr1329Ile, NP_055638.2:p.Thr1082Arg, NP_055638.2:p.Thr1082Ile, NP_001171914.1:p.Thr1589Arg, NP_001171914.1:p.Thr1589Ile, XP_011519299.1:p.Thr1742Arg, XP_011519299.1:p.Thr1742Ile, XP_011519301.1:p.Thr1742Arg, XP_011519301.1:p.Thr1742Ile, XP_011519300.1:p.Thr1741Arg, XP_011519300.1:p.Thr1741Ile, XP_011519302.1:p.Thr1742Arg, XP_011519302.1:p.Thr1742Ile, XP_011519303.1:p.Thr1649Arg, XP_011519303.1:p.Thr1649Ile, XP_011519304.1:p.Thr1588Arg, XP_011519304.1:p.Thr1588Ile, XP_011519305.1:p.Thr1496Arg, XP_011519305.1:p.Thr1496Ile, XP_006719066.1:p.Thr1328Arg, XP_006719066.1:p.Thr1328Ile, XP_011519308.1:p.Thr1301Arg, XP_011519308.1:p.Thr1301Ile, XP_011519309.1:p.Thr1300Arg, XP_011519309.1:p.Thr1300Ile, XP_011519310.1:p.Thr1055Arg, XP_011519310.1:p.Thr1055Ile, XP_011519311.1:p.Thr1054Arg, XP_011519311.1:p.Thr1054Ile, XP_016875323.1:p.Thr1175Arg, XP_016875323.1:p.Thr1175Ile, XP_016875324.1:p.Thr1148Arg, XP_016875324.1:p.Thr1148Ile, XP_016875325.1:p.Thr1147Arg, XP_016875325.1:p.Thr1147Ile, XP_016875326.1:p.Thr1083Arg, XP_016875326.1:p.Thr1083Ile, XP_016875327.1:p.Thr1082Arg, XP_016875327.1:p.Thr1082Ile, XP_047285330.1:p.Thr1742Arg, XP_047285330.1:p.Thr1742Ile, XP_047285331.1:p.Thr1649Arg, XP_047285331.1:p.Thr1649Ile, XP_047285332.1:p.Thr1589Arg, XP_047285332.1:p.Thr1589Ile, XP_047285333.1:p.Thr1329Arg, XP_047285333.1:p.Thr1329Ile, XP_047285334.1:p.Thr1328Arg, XP_047285334.1:p.Thr1328Ile, XP_047285335.1:p.Thr1301Arg, XP_047285335.1:p.Thr1301Ile, XP_047285337.1:p.Thr1301Arg, XP_047285337.1:p.Thr1301Ile, XP_047285336.1:p.Thr1236Arg, XP_047285336.1:p.Thr1236Ile, XP_047285339.1:p.Thr1236Arg, XP_047285339.1:p.Thr1236Ile, XP_047285338.1:p.Thr1235Arg, XP_047285338.1:p.Thr1235Ile, XP_047285340.1:p.Thr1235Arg, XP_047285340.1:p.Thr1235Ile, XP_047285341.1:p.Thr1208Arg, XP_047285341.1:p.Thr1208Ile, XP_047285342.1:p.Thr1207Arg, XP_047285342.1:p.Thr1207Ile, XP_047285343.1:p.Thr1207Arg, XP_047285343.1:p.Thr1207Ile, XP_047285344.1:p.Thr1176Arg, XP_047285344.1:p.Thr1176Ile, XP_047285345.1:p.Thr1176Arg, XP_047285345.1:p.Thr1176Ile, XP_047285346.1:p.Thr1175Arg, XP_047285346.1:p.Thr1175Ile, XP_047285347.1:p.Thr1148Arg, XP_047285347.1:p.Thr1148Ile, XP_047285348.1:p.Thr1147Arg, XP_047285348.1:p.Thr1147Ile, XP_047285349.1:p.Thr1176Arg, XP_047285349.1:p.Thr1176Ile, XP_047285350.1:p.Thr1148Arg, XP_047285350.1:p.Thr1148Ile, XP_047285353.1:p.Thr1148Arg, XP_047285353.1:p.Thr1148Ile, XP_047285352.1:p.Thr1147Arg, XP_047285352.1:p.Thr1147Ile, XP_047285351.1:p.Thr1083Arg, XP_047285351.1:p.Thr1083Ile, XP_047285354.1:p.Thr1055Arg, XP_047285354.1:p.Thr1055Ile, XP_047285355.1:p.Thr1054Arg, XP_047285355.1:p.Thr1054Ile, XP_047285356.1:p.Thr1083Arg, XP_047285356.1:p.Thr1083Ile, XP_047285357.1:p.Thr1082Arg, XP_047285357.1:p.Thr1082Ile, XP_047285358.1:p.Thr1082Arg, XP_047285358.1:p.Thr1082Ile, XP_047285359.1:p.Thr676Arg, XP_047285359.1:p.Thr676Ile

          5.

          rs1489967058 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            12:754264 (GRCh38)
            12:863430 (GRCh37)
            Canonical SPDI:
            NC_000012.12:754263:G:A
            Gene:
            WNK1 (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000014/2 (GnomAD)
            A=0.000015/4 (TOPMED)
            HGVS:
            NC_000012.12:g.754264G>A, NC_000012.11:g.863430G>A, NG_007984.3:g.6206G>A, NM_213655.5:c.699G>A, NM_213655.4:c.699G>A, NM_018979.4:c.699G>A, NM_018979.3:c.699G>A, NM_014823.3:c.699G>A, NM_014823.2:c.699G>A, NM_001184985.2:c.699G>A, NM_001184985.1:c.699G>A, XM_011520997.4:c.699G>A, XM_011520997.3:c.699G>A, XM_011520997.2:c.699G>A, XM_011520997.1:c.699G>A, XM_011520999.3:c.699G>A, XM_011520999.2:c.699G>A, XM_011520999.1:c.699G>A, XM_011520998.3:c.699G>A, XM_011520998.2:c.699G>A, XM_011520998.1:c.699G>A, XM_011521000.3:c.699G>A, XM_011521000.2:c.699G>A, XM_011521000.1:c.699G>A, XM_011521001.3:c.699G>A, XM_011521001.2:c.699G>A, XM_011521001.1:c.699G>A, XM_011521002.3:c.699G>A, XM_011521002.2:c.699G>A, XM_011521002.1:c.699G>A, XM_011521003.3:c.699G>A, XM_011521003.2:c.699G>A, XM_011521003.1:c.699G>A, XM_006719003.3:c.699G>A, XM_006719003.2:c.699G>A, XM_006719003.1:c.699G>A, XM_011521006.3:c.699G>A, XM_011521006.2:c.699G>A, XM_011521006.1:c.699G>A, XM_011521007.3:c.699G>A, XM_011521007.2:c.699G>A, XM_011521007.1:c.699G>A, XM_011521008.3:c.699G>A, XM_011521008.2:c.699G>A, XM_011521008.1:c.699G>A, XM_011521009.3:c.699G>A, XM_011521009.2:c.699G>A, XM_011521009.1:c.699G>A, XM_017019834.2:c.699G>A, XM_017019834.1:c.699G>A, XM_017019835.2:c.699G>A, XM_017019835.1:c.699G>A, XM_017019836.2:c.699G>A, XM_017019836.1:c.699G>A, XM_017019837.2:c.699G>A, XM_017019837.1:c.699G>A, XM_017019838.2:c.699G>A, XM_017019838.1:c.699G>A, XM_047429374.1:c.699G>A, XM_047429375.1:c.699G>A, XM_047429376.1:c.699G>A, XM_047429377.1:c.699G>A, XM_047429378.1:c.699G>A, XM_047429379.1:c.699G>A, XM_047429381.1:c.699G>A, XM_047429380.1:c.699G>A, XM_047429383.1:c.699G>A, XM_047429382.1:c.699G>A, XM_047429384.1:c.699G>A, XM_047429385.1:c.699G>A, XM_047429386.1:c.699G>A, XM_047429387.1:c.699G>A, XM_047429388.1:c.699G>A, XM_047429389.1:c.699G>A, XM_047429390.1:c.699G>A, XM_047429391.1:c.699G>A, XM_047429392.1:c.699G>A, XM_047429393.1:c.699G>A, XM_047429394.1:c.699G>A, XM_047429397.1:c.699G>A, XM_047429396.1:c.699G>A, XM_047429395.1:c.699G>A, XM_047429398.1:c.699G>A, XM_047429399.1:c.699G>A, XM_047429400.1:c.699G>A, XM_047429401.1:c.699G>A, XM_047429402.1:c.699G>A

            6.

            rs1488793022 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              12:896421 (GRCh38)
              12:1005587 (GRCh37)
              Canonical SPDI:
              NC_000012.12:896420:T:G
              Gene:
              WNK1 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000012.12:g.896421T>G, NC_000012.11:g.1005587T>G, NG_007984.3:g.148363T>G, NM_213655.5:c.6690T>G, NM_213655.4:c.6690T>G, NM_018979.4:c.5934T>G, NM_018979.3:c.5934T>G, NM_014823.3:c.5190T>G, NM_014823.2:c.5190T>G, NM_001184985.2:c.6714T>G, NM_001184985.1:c.6714T>G, XM_011520997.4:c.7173T>G, XM_011520997.3:c.7173T>G, XM_011520997.2:c.7173T>G, XM_011520997.1:c.7173T>G, XM_011520999.3:c.7170T>G, XM_011520999.2:c.7170T>G, XM_011520999.1:c.7170T>G, XM_011520998.3:c.7170T>G, XM_011520998.2:c.7170T>G, XM_011520998.1:c.7170T>G, XM_011521000.3:c.7173T>G, XM_011521000.2:c.7173T>G, XM_011521000.1:c.7173T>G, XM_011521001.3:c.6894T>G, XM_011521001.2:c.6894T>G, XM_011521001.1:c.6894T>G, XM_011521002.3:c.6711T>G, XM_011521002.2:c.6711T>G, XM_011521002.1:c.6711T>G, XM_011521003.3:c.6435T>G, XM_011521003.2:c.6435T>G, XM_011521003.1:c.6435T>G, XM_006719003.3:c.5931T>G, XM_006719003.2:c.5931T>G, XM_006719003.1:c.5931T>G, XM_011521006.3:c.5850T>G, XM_011521006.2:c.5850T>G, XM_011521006.1:c.5850T>G, XM_011521007.3:c.5847T>G, XM_011521007.2:c.5847T>G, XM_011521007.1:c.5847T>G, XM_011521008.3:c.5112T>G, XM_011521008.2:c.5112T>G, XM_011521008.1:c.5112T>G, XM_011521009.3:c.5109T>G, XM_011521009.2:c.5109T>G, XM_011521009.1:c.5109T>G, XM_017019834.2:c.5472T>G, XM_017019834.1:c.5472T>G, XM_017019835.2:c.5391T>G, XM_017019835.1:c.5391T>G, XM_017019836.2:c.5388T>G, XM_017019836.1:c.5388T>G, XM_017019837.2:c.5196T>G, XM_017019837.1:c.5196T>G, XM_017019838.2:c.5193T>G, XM_017019838.1:c.5193T>G, XM_047429374.1:c.7170T>G, XM_047429375.1:c.6891T>G, XM_047429376.1:c.6711T>G, XM_047429377.1:c.5931T>G, XM_047429378.1:c.5928T>G, XM_047429379.1:c.5847T>G, XM_047429381.1:c.5850T>G, XM_047429380.1:c.5655T>G, XM_047429383.1:c.5652T>G, XM_047429382.1:c.5652T>G, XM_047429384.1:c.5649T>G, XM_047429385.1:c.5571T>G, XM_047429386.1:c.5568T>G, XM_047429387.1:c.5565T>G, XM_047429388.1:c.5475T>G, XM_047429389.1:c.5472T>G, XM_047429390.1:c.5469T>G, XM_047429391.1:c.5388T>G, XM_047429392.1:c.5385T>G, XM_047429393.1:c.5475T>G, XM_047429394.1:c.5391T>G, XM_047429397.1:c.5388T>G, XM_047429396.1:c.5388T>G, XM_047429395.1:c.5193T>G, XM_047429398.1:c.5109T>G, XM_047429399.1:c.5106T>G, XM_047429400.1:c.5196T>G, XM_047429401.1:c.5193T>G, XM_047429402.1:c.5190T>G, XM_047429403.1:c.3975T>G

              7.

              rs1488716255 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                12:896363 (GRCh38)
                12:1005529 (GRCh37)
                Canonical SPDI:
                NC_000012.12:896362:C:G
                Gene:
                WNK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.896363C>G, NC_000012.11:g.1005529C>G, NG_007984.3:g.148305C>G, NM_213655.5:c.6632C>G, NM_213655.4:c.6632C>G, NM_018979.4:c.5876C>G, NM_018979.3:c.5876C>G, NM_014823.3:c.5132C>G, NM_014823.2:c.5132C>G, NM_001184985.2:c.6656C>G, NM_001184985.1:c.6656C>G, XM_011520997.4:c.7115C>G, XM_011520997.3:c.7115C>G, XM_011520997.2:c.7115C>G, XM_011520997.1:c.7115C>G, XM_011520999.3:c.7112C>G, XM_011520999.2:c.7112C>G, XM_011520999.1:c.7112C>G, XM_011520998.3:c.7112C>G, XM_011520998.2:c.7112C>G, XM_011520998.1:c.7112C>G, XM_011521000.3:c.7115C>G, XM_011521000.2:c.7115C>G, XM_011521000.1:c.7115C>G, XM_011521001.3:c.6836C>G, XM_011521001.2:c.6836C>G, XM_011521001.1:c.6836C>G, XM_011521002.3:c.6653C>G, XM_011521002.2:c.6653C>G, XM_011521002.1:c.6653C>G, XM_011521003.3:c.6377C>G, XM_011521003.2:c.6377C>G, XM_011521003.1:c.6377C>G, XM_006719003.3:c.5873C>G, XM_006719003.2:c.5873C>G, XM_006719003.1:c.5873C>G, XM_011521006.3:c.5792C>G, XM_011521006.2:c.5792C>G, XM_011521006.1:c.5792C>G, XM_011521007.3:c.5789C>G, XM_011521007.2:c.5789C>G, XM_011521007.1:c.5789C>G, XM_011521008.3:c.5054C>G, XM_011521008.2:c.5054C>G, XM_011521008.1:c.5054C>G, XM_011521009.3:c.5051C>G, XM_011521009.2:c.5051C>G, XM_011521009.1:c.5051C>G, XM_017019834.2:c.5414C>G, XM_017019834.1:c.5414C>G, XM_017019835.2:c.5333C>G, XM_017019835.1:c.5333C>G, XM_017019836.2:c.5330C>G, XM_017019836.1:c.5330C>G, XM_017019837.2:c.5138C>G, XM_017019837.1:c.5138C>G, XM_017019838.2:c.5135C>G, XM_017019838.1:c.5135C>G, XM_047429374.1:c.7112C>G, XM_047429375.1:c.6833C>G, XM_047429376.1:c.6653C>G, XM_047429377.1:c.5873C>G, XM_047429378.1:c.5870C>G, XM_047429379.1:c.5789C>G, XM_047429381.1:c.5792C>G, XM_047429380.1:c.5597C>G, XM_047429383.1:c.5594C>G, XM_047429382.1:c.5594C>G, XM_047429384.1:c.5591C>G, XM_047429385.1:c.5513C>G, XM_047429386.1:c.5510C>G, XM_047429387.1:c.5507C>G, XM_047429388.1:c.5417C>G, XM_047429389.1:c.5414C>G, XM_047429390.1:c.5411C>G, XM_047429391.1:c.5330C>G, XM_047429392.1:c.5327C>G, XM_047429393.1:c.5417C>G, XM_047429394.1:c.5333C>G, XM_047429397.1:c.5330C>G, XM_047429396.1:c.5330C>G, XM_047429395.1:c.5135C>G, XM_047429398.1:c.5051C>G, XM_047429399.1:c.5048C>G, XM_047429400.1:c.5138C>G, XM_047429401.1:c.5135C>G, XM_047429402.1:c.5132C>G, XM_047429403.1:c.3917C>G, NP_998820.3:p.Ser2211Cys, NP_061852.3:p.Ser1959Cys, NP_055638.2:p.Ser1711Cys, NP_001171914.1:p.Ser2219Cys, XP_011519299.1:p.Ser2372Cys, XP_011519301.1:p.Ser2371Cys, XP_011519300.1:p.Ser2371Cys, XP_011519302.1:p.Ser2372Cys, XP_011519303.1:p.Ser2279Cys, XP_011519304.1:p.Ser2218Cys, XP_011519305.1:p.Ser2126Cys, XP_006719066.1:p.Ser1958Cys, XP_011519308.1:p.Ser1931Cys, XP_011519309.1:p.Ser1930Cys, XP_011519310.1:p.Ser1685Cys, XP_011519311.1:p.Ser1684Cys, XP_016875323.1:p.Ser1805Cys, XP_016875324.1:p.Ser1778Cys, XP_016875325.1:p.Ser1777Cys, XP_016875326.1:p.Ser1713Cys, XP_016875327.1:p.Ser1712Cys, XP_047285330.1:p.Ser2371Cys, XP_047285331.1:p.Ser2278Cys, XP_047285332.1:p.Ser2218Cys, XP_047285333.1:p.Ser1958Cys, XP_047285334.1:p.Ser1957Cys, XP_047285335.1:p.Ser1930Cys, XP_047285337.1:p.Ser1931Cys, XP_047285336.1:p.Ser1866Cys, XP_047285339.1:p.Ser1865Cys, XP_047285338.1:p.Ser1865Cys, XP_047285340.1:p.Ser1864Cys, XP_047285341.1:p.Ser1838Cys, XP_047285342.1:p.Ser1837Cys, XP_047285343.1:p.Ser1836Cys, XP_047285344.1:p.Ser1806Cys, XP_047285345.1:p.Ser1805Cys, XP_047285346.1:p.Ser1804Cys, XP_047285347.1:p.Ser1777Cys, XP_047285348.1:p.Ser1776Cys, XP_047285349.1:p.Ser1806Cys, XP_047285350.1:p.Ser1778Cys, XP_047285353.1:p.Ser1777Cys, XP_047285352.1:p.Ser1777Cys, XP_047285351.1:p.Ser1712Cys, XP_047285354.1:p.Ser1684Cys, XP_047285355.1:p.Ser1683Cys, XP_047285356.1:p.Ser1713Cys, XP_047285357.1:p.Ser1712Cys, XP_047285358.1:p.Ser1711Cys, XP_047285359.1:p.Ser1306Cys

                8.

                rs1488189452 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:861199 (GRCh38)
                  12:970365 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:861198:A:G
                  Gene:
                  WNK1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.861199A>G, NC_000012.11:g.970365A>G, NG_007984.3:g.113141A>G, NM_213655.5:c.1807A>G, NM_213655.4:c.1807A>G, NM_018979.4:c.1807A>G, NM_018979.3:c.1807A>G, NM_014823.3:c.1807A>G, NM_014823.2:c.1807A>G, NM_001184985.2:c.1807A>G, NM_001184985.1:c.1807A>G, XM_011520997.4:c.1807A>G, XM_011520997.3:c.1807A>G, XM_011520997.2:c.1807A>G, XM_011520997.1:c.1807A>G, XM_011520999.3:c.1807A>G, XM_011520999.2:c.1807A>G, XM_011520999.1:c.1807A>G, XM_011520998.3:c.1807A>G, XM_011520998.2:c.1807A>G, XM_011520998.1:c.1807A>G, XM_011521000.3:c.1807A>G, XM_011521000.2:c.1807A>G, XM_011521000.1:c.1807A>G, XM_011521001.3:c.1807A>G, XM_011521001.2:c.1807A>G, XM_011521001.1:c.1807A>G, XM_011521002.3:c.1807A>G, XM_011521002.2:c.1807A>G, XM_011521002.1:c.1807A>G, XM_011521003.3:c.1807A>G, XM_011521003.2:c.1807A>G, XM_011521003.1:c.1807A>G, XM_006719003.3:c.1807A>G, XM_006719003.2:c.1807A>G, XM_006719003.1:c.1807A>G, XM_011521006.3:c.1807A>G, XM_011521006.2:c.1807A>G, XM_011521006.1:c.1807A>G, XM_011521007.3:c.1807A>G, XM_011521007.2:c.1807A>G, XM_011521007.1:c.1807A>G, XM_011521008.3:c.1807A>G, XM_011521008.2:c.1807A>G, XM_011521008.1:c.1807A>G, XM_011521009.3:c.1807A>G, XM_011521009.2:c.1807A>G, XM_011521009.1:c.1807A>G, XM_017019834.2:c.1807A>G, XM_017019834.1:c.1807A>G, XM_017019835.2:c.1807A>G, XM_017019835.1:c.1807A>G, XM_017019836.2:c.1807A>G, XM_017019836.1:c.1807A>G, XM_017019837.2:c.1807A>G, XM_017019837.1:c.1807A>G, XM_017019838.2:c.1807A>G, XM_017019838.1:c.1807A>G, XM_047429374.1:c.1807A>G, XM_047429375.1:c.1807A>G, XM_047429376.1:c.1807A>G, XM_047429377.1:c.1807A>G, XM_047429378.1:c.1807A>G, XM_047429379.1:c.1807A>G, XM_047429381.1:c.1807A>G, XM_047429380.1:c.1807A>G, XM_047429383.1:c.1807A>G, XM_047429382.1:c.1807A>G, XM_047429384.1:c.1807A>G, XM_047429385.1:c.1807A>G, XM_047429386.1:c.1807A>G, XM_047429387.1:c.1807A>G, XM_047429388.1:c.1807A>G, XM_047429389.1:c.1807A>G, XM_047429390.1:c.1807A>G, XM_047429391.1:c.1807A>G, XM_047429392.1:c.1807A>G, XM_047429393.1:c.1807A>G, XM_047429394.1:c.1807A>G, XM_047429397.1:c.1807A>G, XM_047429396.1:c.1807A>G, XM_047429395.1:c.1807A>G, XM_047429398.1:c.1807A>G, XM_047429399.1:c.1807A>G, XM_047429400.1:c.1807A>G, XM_047429401.1:c.1807A>G, XM_047429402.1:c.1807A>G, XM_047429403.1:c.586A>G, NP_998820.3:p.Ile603Val, NP_061852.3:p.Ile603Val, NP_055638.2:p.Ile603Val, NP_001171914.1:p.Ile603Val, XP_011519299.1:p.Ile603Val, XP_011519301.1:p.Ile603Val, XP_011519300.1:p.Ile603Val, XP_011519302.1:p.Ile603Val, XP_011519303.1:p.Ile603Val, XP_011519304.1:p.Ile603Val, XP_011519305.1:p.Ile603Val, XP_006719066.1:p.Ile603Val, XP_011519308.1:p.Ile603Val, XP_011519309.1:p.Ile603Val, XP_011519310.1:p.Ile603Val, XP_011519311.1:p.Ile603Val, XP_016875323.1:p.Ile603Val, XP_016875324.1:p.Ile603Val, XP_016875325.1:p.Ile603Val, XP_016875326.1:p.Ile603Val, XP_016875327.1:p.Ile603Val, XP_047285330.1:p.Ile603Val, XP_047285331.1:p.Ile603Val, XP_047285332.1:p.Ile603Val, XP_047285333.1:p.Ile603Val, XP_047285334.1:p.Ile603Val, XP_047285335.1:p.Ile603Val, XP_047285337.1:p.Ile603Val, XP_047285336.1:p.Ile603Val, XP_047285339.1:p.Ile603Val, XP_047285338.1:p.Ile603Val, XP_047285340.1:p.Ile603Val, XP_047285341.1:p.Ile603Val, XP_047285342.1:p.Ile603Val, XP_047285343.1:p.Ile603Val, XP_047285344.1:p.Ile603Val, XP_047285345.1:p.Ile603Val, XP_047285346.1:p.Ile603Val, XP_047285347.1:p.Ile603Val, XP_047285348.1:p.Ile603Val, XP_047285349.1:p.Ile603Val, XP_047285350.1:p.Ile603Val, XP_047285353.1:p.Ile603Val, XP_047285352.1:p.Ile603Val, XP_047285351.1:p.Ile603Val, XP_047285354.1:p.Ile603Val, XP_047285355.1:p.Ile603Val, XP_047285356.1:p.Ile603Val, XP_047285357.1:p.Ile603Val, XP_047285358.1:p.Ile603Val, XP_047285359.1:p.Ile196Val

                  9.

                  rs1488050527 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:896245 (GRCh38)
                    12:1005411 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:896244:G:T
                    Gene:
                    WNK1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000012.12:g.896245G>T, NC_000012.11:g.1005411G>T, NG_007984.3:g.148187G>T, NM_213655.5:c.6514G>T, NM_213655.4:c.6514G>T, NM_018979.4:c.5758G>T, NM_018979.3:c.5758G>T, NM_014823.3:c.5014G>T, NM_014823.2:c.5014G>T, NM_001184985.2:c.6538G>T, NM_001184985.1:c.6538G>T, XM_011520997.4:c.6997G>T, XM_011520997.3:c.6997G>T, XM_011520997.2:c.6997G>T, XM_011520997.1:c.6997G>T, XM_011520999.3:c.6994G>T, XM_011520999.2:c.6994G>T, XM_011520999.1:c.6994G>T, XM_011520998.3:c.6994G>T, XM_011520998.2:c.6994G>T, XM_011520998.1:c.6994G>T, XM_011521000.3:c.6997G>T, XM_011521000.2:c.6997G>T, XM_011521000.1:c.6997G>T, XM_011521001.3:c.6718G>T, XM_011521001.2:c.6718G>T, XM_011521001.1:c.6718G>T, XM_011521002.3:c.6535G>T, XM_011521002.2:c.6535G>T, XM_011521002.1:c.6535G>T, XM_011521003.3:c.6259G>T, XM_011521003.2:c.6259G>T, XM_011521003.1:c.6259G>T, XM_006719003.3:c.5755G>T, XM_006719003.2:c.5755G>T, XM_006719003.1:c.5755G>T, XM_011521006.3:c.5674G>T, XM_011521006.2:c.5674G>T, XM_011521006.1:c.5674G>T, XM_011521007.3:c.5671G>T, XM_011521007.2:c.5671G>T, XM_011521007.1:c.5671G>T, XM_011521008.3:c.4936G>T, XM_011521008.2:c.4936G>T, XM_011521008.1:c.4936G>T, XM_011521009.3:c.4933G>T, XM_011521009.2:c.4933G>T, XM_011521009.1:c.4933G>T, XM_017019834.2:c.5296G>T, XM_017019834.1:c.5296G>T, XM_017019835.2:c.5215G>T, XM_017019835.1:c.5215G>T, XM_017019836.2:c.5212G>T, XM_017019836.1:c.5212G>T, XM_017019837.2:c.5020G>T, XM_017019837.1:c.5020G>T, XM_017019838.2:c.5017G>T, XM_017019838.1:c.5017G>T, XM_047429374.1:c.6994G>T, XM_047429375.1:c.6715G>T, XM_047429376.1:c.6535G>T, XM_047429377.1:c.5755G>T, XM_047429378.1:c.5752G>T, XM_047429379.1:c.5671G>T, XM_047429381.1:c.5674G>T, XM_047429380.1:c.5479G>T, XM_047429383.1:c.5476G>T, XM_047429382.1:c.5476G>T, XM_047429384.1:c.5473G>T, XM_047429385.1:c.5395G>T, XM_047429386.1:c.5392G>T, XM_047429387.1:c.5389G>T, XM_047429388.1:c.5299G>T, XM_047429389.1:c.5296G>T, XM_047429390.1:c.5293G>T, XM_047429391.1:c.5212G>T, XM_047429392.1:c.5209G>T, XM_047429393.1:c.5299G>T, XM_047429394.1:c.5215G>T, XM_047429397.1:c.5212G>T, XM_047429396.1:c.5212G>T, XM_047429395.1:c.5017G>T, XM_047429398.1:c.4933G>T, XM_047429399.1:c.4930G>T, XM_047429400.1:c.5020G>T, XM_047429401.1:c.5017G>T, XM_047429402.1:c.5014G>T, XM_047429403.1:c.3799G>T, NP_998820.3:p.Asp2172Tyr, NP_061852.3:p.Asp1920Tyr, NP_055638.2:p.Asp1672Tyr, NP_001171914.1:p.Asp2180Tyr, XP_011519299.1:p.Asp2333Tyr, XP_011519301.1:p.Asp2332Tyr, XP_011519300.1:p.Asp2332Tyr, XP_011519302.1:p.Asp2333Tyr, XP_011519303.1:p.Asp2240Tyr, XP_011519304.1:p.Asp2179Tyr, XP_011519305.1:p.Asp2087Tyr, XP_006719066.1:p.Asp1919Tyr, XP_011519308.1:p.Asp1892Tyr, XP_011519309.1:p.Asp1891Tyr, XP_011519310.1:p.Asp1646Tyr, XP_011519311.1:p.Asp1645Tyr, XP_016875323.1:p.Asp1766Tyr, XP_016875324.1:p.Asp1739Tyr, XP_016875325.1:p.Asp1738Tyr, XP_016875326.1:p.Asp1674Tyr, XP_016875327.1:p.Asp1673Tyr, XP_047285330.1:p.Asp2332Tyr, XP_047285331.1:p.Asp2239Tyr, XP_047285332.1:p.Asp2179Tyr, XP_047285333.1:p.Asp1919Tyr, XP_047285334.1:p.Asp1918Tyr, XP_047285335.1:p.Asp1891Tyr, XP_047285337.1:p.Asp1892Tyr, XP_047285336.1:p.Asp1827Tyr, XP_047285339.1:p.Asp1826Tyr, XP_047285338.1:p.Asp1826Tyr, XP_047285340.1:p.Asp1825Tyr, XP_047285341.1:p.Asp1799Tyr, XP_047285342.1:p.Asp1798Tyr, XP_047285343.1:p.Asp1797Tyr, XP_047285344.1:p.Asp1767Tyr, XP_047285345.1:p.Asp1766Tyr, XP_047285346.1:p.Asp1765Tyr, XP_047285347.1:p.Asp1738Tyr, XP_047285348.1:p.Asp1737Tyr, XP_047285349.1:p.Asp1767Tyr, XP_047285350.1:p.Asp1739Tyr, XP_047285353.1:p.Asp1738Tyr, XP_047285352.1:p.Asp1738Tyr, XP_047285351.1:p.Asp1673Tyr, XP_047285354.1:p.Asp1645Tyr, XP_047285355.1:p.Asp1644Tyr, XP_047285356.1:p.Asp1674Tyr, XP_047285357.1:p.Asp1673Tyr, XP_047285358.1:p.Asp1672Tyr, XP_047285359.1:p.Asp1267Tyr

                    10.

                    rs1486985641 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:896465 (GRCh38)
                      12:1005631 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:896464:T:C
                      Gene:
                      WNK1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000012.12:g.896465T>C, NC_000012.11:g.1005631T>C, NG_007984.3:g.148407T>C, NM_213655.5:c.6734T>C, NM_213655.4:c.6734T>C, NM_018979.4:c.5978T>C, NM_018979.3:c.5978T>C, NM_014823.3:c.5234T>C, NM_014823.2:c.5234T>C, NM_001184985.2:c.6758T>C, NM_001184985.1:c.6758T>C, XM_011520997.4:c.7217T>C, XM_011520997.3:c.7217T>C, XM_011520997.2:c.7217T>C, XM_011520997.1:c.7217T>C, XM_011520999.3:c.7214T>C, XM_011520999.2:c.7214T>C, XM_011520999.1:c.7214T>C, XM_011520998.3:c.7214T>C, XM_011520998.2:c.7214T>C, XM_011520998.1:c.7214T>C, XM_011521000.3:c.7217T>C, XM_011521000.2:c.7217T>C, XM_011521000.1:c.7217T>C, XM_011521001.3:c.6938T>C, XM_011521001.2:c.6938T>C, XM_011521001.1:c.6938T>C, XM_011521002.3:c.6755T>C, XM_011521002.2:c.6755T>C, XM_011521002.1:c.6755T>C, XM_011521003.3:c.6479T>C, XM_011521003.2:c.6479T>C, XM_011521003.1:c.6479T>C, XM_006719003.3:c.5975T>C, XM_006719003.2:c.5975T>C, XM_006719003.1:c.5975T>C, XM_011521006.3:c.5894T>C, XM_011521006.2:c.5894T>C, XM_011521006.1:c.5894T>C, XM_011521007.3:c.5891T>C, XM_011521007.2:c.5891T>C, XM_011521007.1:c.5891T>C, XM_011521008.3:c.5156T>C, XM_011521008.2:c.5156T>C, XM_011521008.1:c.5156T>C, XM_011521009.3:c.5153T>C, XM_011521009.2:c.5153T>C, XM_011521009.1:c.5153T>C, XM_017019834.2:c.5516T>C, XM_017019834.1:c.5516T>C, XM_017019835.2:c.5435T>C, XM_017019835.1:c.5435T>C, XM_017019836.2:c.5432T>C, XM_017019836.1:c.5432T>C, XM_017019837.2:c.5240T>C, XM_017019837.1:c.5240T>C, XM_017019838.2:c.5237T>C, XM_017019838.1:c.5237T>C, XM_047429374.1:c.7214T>C, XM_047429375.1:c.6935T>C, XM_047429376.1:c.6755T>C, XM_047429377.1:c.5975T>C, XM_047429378.1:c.5972T>C, XM_047429379.1:c.5891T>C, XM_047429381.1:c.5894T>C, XM_047429380.1:c.5699T>C, XM_047429383.1:c.5696T>C, XM_047429382.1:c.5696T>C, XM_047429384.1:c.5693T>C, XM_047429385.1:c.5615T>C, XM_047429386.1:c.5612T>C, XM_047429387.1:c.5609T>C, XM_047429388.1:c.5519T>C, XM_047429389.1:c.5516T>C, XM_047429390.1:c.5513T>C, XM_047429391.1:c.5432T>C, XM_047429392.1:c.5429T>C, XM_047429393.1:c.5519T>C, XM_047429394.1:c.5435T>C, XM_047429397.1:c.5432T>C, XM_047429396.1:c.5432T>C, XM_047429395.1:c.5237T>C, XM_047429398.1:c.5153T>C, XM_047429399.1:c.5150T>C, XM_047429400.1:c.5240T>C, XM_047429401.1:c.5237T>C, XM_047429402.1:c.5234T>C, XM_047429403.1:c.4019T>C, NP_998820.3:p.Ile2245Thr, NP_061852.3:p.Ile1993Thr, NP_055638.2:p.Ile1745Thr, NP_001171914.1:p.Ile2253Thr, XP_011519299.1:p.Ile2406Thr, XP_011519301.1:p.Ile2405Thr, XP_011519300.1:p.Ile2405Thr, XP_011519302.1:p.Ile2406Thr, XP_011519303.1:p.Ile2313Thr, XP_011519304.1:p.Ile2252Thr, XP_011519305.1:p.Ile2160Thr, XP_006719066.1:p.Ile1992Thr, XP_011519308.1:p.Ile1965Thr, XP_011519309.1:p.Ile1964Thr, XP_011519310.1:p.Ile1719Thr, XP_011519311.1:p.Ile1718Thr, XP_016875323.1:p.Ile1839Thr, XP_016875324.1:p.Ile1812Thr, XP_016875325.1:p.Ile1811Thr, XP_016875326.1:p.Ile1747Thr, XP_016875327.1:p.Ile1746Thr, XP_047285330.1:p.Ile2405Thr, XP_047285331.1:p.Ile2312Thr, XP_047285332.1:p.Ile2252Thr, XP_047285333.1:p.Ile1992Thr, XP_047285334.1:p.Ile1991Thr, XP_047285335.1:p.Ile1964Thr, XP_047285337.1:p.Ile1965Thr, XP_047285336.1:p.Ile1900Thr, XP_047285339.1:p.Ile1899Thr, XP_047285338.1:p.Ile1899Thr, XP_047285340.1:p.Ile1898Thr, XP_047285341.1:p.Ile1872Thr, XP_047285342.1:p.Ile1871Thr, XP_047285343.1:p.Ile1870Thr, XP_047285344.1:p.Ile1840Thr, XP_047285345.1:p.Ile1839Thr, XP_047285346.1:p.Ile1838Thr, XP_047285347.1:p.Ile1811Thr, XP_047285348.1:p.Ile1810Thr, XP_047285349.1:p.Ile1840Thr, XP_047285350.1:p.Ile1812Thr, XP_047285353.1:p.Ile1811Thr, XP_047285352.1:p.Ile1811Thr, XP_047285351.1:p.Ile1746Thr, XP_047285354.1:p.Ile1718Thr, XP_047285355.1:p.Ile1717Thr, XP_047285356.1:p.Ile1747Thr, XP_047285357.1:p.Ile1746Thr, XP_047285358.1:p.Ile1745Thr, XP_047285359.1:p.Ile1340Thr

                      11.

                      rs1486886672 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:859284 (GRCh38)
                        12:968450 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:859283:A:G
                        Gene:
                        WNK1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000012.12:g.859284A>G, NC_000012.11:g.968450A>G, NG_007984.3:g.111226A>G, NM_213655.5:c.1440A>G, NM_213655.4:c.1440A>G, NM_018979.4:c.1440A>G, NM_018979.3:c.1440A>G, NM_014823.3:c.1440A>G, NM_014823.2:c.1440A>G, NM_001184985.2:c.1440A>G, NM_001184985.1:c.1440A>G, XM_011520997.4:c.1440A>G, XM_011520997.3:c.1440A>G, XM_011520997.2:c.1440A>G, XM_011520997.1:c.1440A>G, XM_011520999.3:c.1440A>G, XM_011520999.2:c.1440A>G, XM_011520999.1:c.1440A>G, XM_011520998.3:c.1440A>G, XM_011520998.2:c.1440A>G, XM_011520998.1:c.1440A>G, XM_011521000.3:c.1440A>G, XM_011521000.2:c.1440A>G, XM_011521000.1:c.1440A>G, XM_011521001.3:c.1440A>G, XM_011521001.2:c.1440A>G, XM_011521001.1:c.1440A>G, XM_011521002.3:c.1440A>G, XM_011521002.2:c.1440A>G, XM_011521002.1:c.1440A>G, XM_011521003.3:c.1440A>G, XM_011521003.2:c.1440A>G, XM_011521003.1:c.1440A>G, XM_006719003.3:c.1440A>G, XM_006719003.2:c.1440A>G, XM_006719003.1:c.1440A>G, XM_011521006.3:c.1440A>G, XM_011521006.2:c.1440A>G, XM_011521006.1:c.1440A>G, XM_011521007.3:c.1440A>G, XM_011521007.2:c.1440A>G, XM_011521007.1:c.1440A>G, XM_011521008.3:c.1440A>G, XM_011521008.2:c.1440A>G, XM_011521008.1:c.1440A>G, XM_011521009.3:c.1440A>G, XM_011521009.2:c.1440A>G, XM_011521009.1:c.1440A>G, XM_017019834.2:c.1440A>G, XM_017019834.1:c.1440A>G, XM_017019835.2:c.1440A>G, XM_017019835.1:c.1440A>G, XM_017019836.2:c.1440A>G, XM_017019836.1:c.1440A>G, XM_017019837.2:c.1440A>G, XM_017019837.1:c.1440A>G, XM_017019838.2:c.1440A>G, XM_017019838.1:c.1440A>G, XM_047429374.1:c.1440A>G, XM_047429375.1:c.1440A>G, XM_047429376.1:c.1440A>G, XM_047429377.1:c.1440A>G, XM_047429378.1:c.1440A>G, XM_047429379.1:c.1440A>G, XM_047429381.1:c.1440A>G, XM_047429380.1:c.1440A>G, XM_047429383.1:c.1440A>G, XM_047429382.1:c.1440A>G, XM_047429384.1:c.1440A>G, XM_047429385.1:c.1440A>G, XM_047429386.1:c.1440A>G, XM_047429387.1:c.1440A>G, XM_047429388.1:c.1440A>G, XM_047429389.1:c.1440A>G, XM_047429390.1:c.1440A>G, XM_047429391.1:c.1440A>G, XM_047429392.1:c.1440A>G, XM_047429393.1:c.1440A>G, XM_047429394.1:c.1440A>G, XM_047429397.1:c.1440A>G, XM_047429396.1:c.1440A>G, XM_047429395.1:c.1440A>G, XM_047429398.1:c.1440A>G, XM_047429399.1:c.1440A>G, XM_047429400.1:c.1440A>G, XM_047429401.1:c.1440A>G, XM_047429402.1:c.1440A>G, XM_047429403.1:c.219A>G

                        12.

                        rs1486847041 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:883814 (GRCh38)
                          12:992980 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:883813:C:T
                          Gene:
                          WNK1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000012.12:g.883814C>T, NC_000012.11:g.992980C>T, NG_007984.3:g.135756C>T, NM_213655.5:c.4460C>T, NM_213655.4:c.4460C>T, NM_018979.4:c.3704C>T, NM_018979.3:c.3704C>T, NM_014823.3:c.2963C>T, NM_014823.2:c.2963C>T, NM_001184985.2:c.4484C>T, NM_001184985.1:c.4484C>T, XM_011520997.4:c.4943C>T, XM_011520997.3:c.4943C>T, XM_011520997.2:c.4943C>T, XM_011520997.1:c.4943C>T, XM_011520999.3:c.4943C>T, XM_011520999.2:c.4943C>T, XM_011520999.1:c.4943C>T, XM_011520998.3:c.4940C>T, XM_011520998.2:c.4940C>T, XM_011520998.1:c.4940C>T, XM_011521000.3:c.4943C>T, XM_011521000.2:c.4943C>T, XM_011521000.1:c.4943C>T, XM_011521001.3:c.4664C>T, XM_011521001.2:c.4664C>T, XM_011521001.1:c.4664C>T, XM_011521002.3:c.4481C>T, XM_011521002.2:c.4481C>T, XM_011521002.1:c.4481C>T, XM_011521003.3:c.4205C>T, XM_011521003.2:c.4205C>T, XM_011521003.1:c.4205C>T, XM_006719003.3:c.3701C>T, XM_006719003.2:c.3701C>T, XM_006719003.1:c.3701C>T, XM_011521006.3:c.3620C>T, XM_011521006.2:c.3620C>T, XM_011521006.1:c.3620C>T, XM_011521007.3:c.3617C>T, XM_011521007.2:c.3617C>T, XM_011521007.1:c.3617C>T, XM_011521008.3:c.2882C>T, XM_011521008.2:c.2882C>T, XM_011521008.1:c.2882C>T, XM_011521009.3:c.2879C>T, XM_011521009.2:c.2879C>T, XM_011521009.1:c.2879C>T, XM_017019834.2:c.3242C>T, XM_017019834.1:c.3242C>T, XM_017019835.2:c.3161C>T, XM_017019835.1:c.3161C>T, XM_017019836.2:c.3158C>T, XM_017019836.1:c.3158C>T, XM_017019837.2:c.2966C>T, XM_017019837.1:c.2966C>T, XM_017019838.2:c.2963C>T, XM_017019838.1:c.2963C>T, XM_047429374.1:c.4943C>T, XM_047429375.1:c.4664C>T, XM_047429376.1:c.4484C>T, XM_047429377.1:c.3704C>T, XM_047429378.1:c.3701C>T, XM_047429379.1:c.3620C>T, XM_047429381.1:c.3620C>T, XM_047429380.1:c.3425C>T, XM_047429383.1:c.3425C>T, XM_047429382.1:c.3422C>T, XM_047429384.1:c.3422C>T, XM_047429385.1:c.3341C>T, XM_047429386.1:c.3338C>T, XM_047429387.1:c.3338C>T, XM_047429388.1:c.3245C>T, XM_047429389.1:c.3245C>T, XM_047429390.1:c.3242C>T, XM_047429391.1:c.3161C>T, XM_047429392.1:c.3158C>T, XM_047429393.1:c.3245C>T, XM_047429394.1:c.3161C>T, XM_047429397.1:c.3161C>T, XM_047429396.1:c.3158C>T, XM_047429395.1:c.2966C>T, XM_047429398.1:c.2882C>T, XM_047429399.1:c.2879C>T, XM_047429400.1:c.2966C>T, XM_047429401.1:c.2963C>T, XM_047429402.1:c.2963C>T, XM_047429403.1:c.1745C>T, NP_998820.3:p.Ser1487Phe, NP_061852.3:p.Ser1235Phe, NP_055638.2:p.Ser988Phe, NP_001171914.1:p.Ser1495Phe, XP_011519299.1:p.Ser1648Phe, XP_011519301.1:p.Ser1648Phe, XP_011519300.1:p.Ser1647Phe, XP_011519302.1:p.Ser1648Phe, XP_011519303.1:p.Ser1555Phe, XP_011519304.1:p.Ser1494Phe, XP_011519305.1:p.Ser1402Phe, XP_006719066.1:p.Ser1234Phe, XP_011519308.1:p.Ser1207Phe, XP_011519309.1:p.Ser1206Phe, XP_011519310.1:p.Ser961Phe, XP_011519311.1:p.Ser960Phe, XP_016875323.1:p.Ser1081Phe, XP_016875324.1:p.Ser1054Phe, XP_016875325.1:p.Ser1053Phe, XP_016875326.1:p.Ser989Phe, XP_016875327.1:p.Ser988Phe, XP_047285330.1:p.Ser1648Phe, XP_047285331.1:p.Ser1555Phe, XP_047285332.1:p.Ser1495Phe, XP_047285333.1:p.Ser1235Phe, XP_047285334.1:p.Ser1234Phe, XP_047285335.1:p.Ser1207Phe, XP_047285337.1:p.Ser1207Phe, XP_047285336.1:p.Ser1142Phe, XP_047285339.1:p.Ser1142Phe, XP_047285338.1:p.Ser1141Phe, XP_047285340.1:p.Ser1141Phe, XP_047285341.1:p.Ser1114Phe, XP_047285342.1:p.Ser1113Phe, XP_047285343.1:p.Ser1113Phe, XP_047285344.1:p.Ser1082Phe, XP_047285345.1:p.Ser1082Phe, XP_047285346.1:p.Ser1081Phe, XP_047285347.1:p.Ser1054Phe, XP_047285348.1:p.Ser1053Phe, XP_047285349.1:p.Ser1082Phe, XP_047285350.1:p.Ser1054Phe, XP_047285353.1:p.Ser1054Phe, XP_047285352.1:p.Ser1053Phe, XP_047285351.1:p.Ser989Phe, XP_047285354.1:p.Ser961Phe, XP_047285355.1:p.Ser960Phe, XP_047285356.1:p.Ser989Phe, XP_047285357.1:p.Ser988Phe, XP_047285358.1:p.Ser988Phe, XP_047285359.1:p.Ser582Phe

                          13.

                          rs1486513379 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:908495 (GRCh38)
                            12:1017661 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:908494:G:A
                            Gene:
                            WNK1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.908495G>A, NC_000012.11:g.1017661G>A, NG_007984.3:g.160437G>A, NM_213655.5:c.7608G>A, NM_213655.4:c.7608G>A, NM_018979.4:c.6852G>A, NM_018979.3:c.6852G>A, NM_014823.3:c.6108G>A, NM_014823.2:c.6108G>A, NM_001184985.2:c.7632G>A, NM_001184985.1:c.7632G>A, XM_011520997.4:c.8091G>A, XM_011520997.3:c.8091G>A, XM_011520997.2:c.8091G>A, XM_011520997.1:c.8091G>A, XM_011520999.3:c.8088G>A, XM_011520999.2:c.8088G>A, XM_011520999.1:c.8088G>A, XM_011520998.3:c.8088G>A, XM_011520998.2:c.8088G>A, XM_011520998.1:c.8088G>A, XM_011521000.3:c.7896G>A, XM_011521000.2:c.7896G>A, XM_011521000.1:c.7896G>A, XM_011521001.3:c.7812G>A, XM_011521001.2:c.7812G>A, XM_011521001.1:c.7812G>A, XM_011521002.3:c.7629G>A, XM_011521002.2:c.7629G>A, XM_011521002.1:c.7629G>A, XM_011521003.3:c.7353G>A, XM_011521003.2:c.7353G>A, XM_011521003.1:c.7353G>A, XM_006719003.3:c.6849G>A, XM_006719003.2:c.6849G>A, XM_006719003.1:c.6849G>A, XM_011521006.3:c.6768G>A, XM_011521006.2:c.6768G>A, XM_011521006.1:c.6768G>A, XM_011521007.3:c.6765G>A, XM_011521007.2:c.6765G>A, XM_011521007.1:c.6765G>A, XM_011521008.3:c.6030G>A, XM_011521008.2:c.6030G>A, XM_011521008.1:c.6030G>A, XM_011521009.3:c.6027G>A, XM_011521009.2:c.6027G>A, XM_011521009.1:c.6027G>A, XM_017019834.2:c.6390G>A, XM_017019834.1:c.6390G>A, XM_017019835.2:c.6309G>A, XM_017019835.1:c.6309G>A, XM_017019836.2:c.6306G>A, XM_017019836.1:c.6306G>A, XM_017019837.2:c.6114G>A, XM_017019837.1:c.6114G>A, XM_017019838.2:c.6111G>A, XM_017019838.1:c.6111G>A, XM_047429374.1:c.7893G>A, XM_047429375.1:c.7809G>A, XM_047429376.1:c.7629G>A, XM_047429377.1:c.6849G>A, XM_047429378.1:c.6846G>A, XM_047429379.1:c.6765G>A, XM_047429381.1:c.6573G>A, XM_047429380.1:c.6573G>A, XM_047429383.1:c.6570G>A, XM_047429382.1:c.6570G>A, XM_047429384.1:c.6567G>A, XM_047429385.1:c.6489G>A, XM_047429386.1:c.6486G>A, XM_047429387.1:c.6483G>A, XM_047429388.1:c.6393G>A, XM_047429389.1:c.6390G>A, XM_047429390.1:c.6387G>A, XM_047429391.1:c.6306G>A, XM_047429392.1:c.6303G>A, XM_047429393.1:c.6198G>A, XM_047429394.1:c.6114G>A, XM_047429397.1:c.6111G>A, XM_047429396.1:c.6111G>A, XM_047429395.1:c.6111G>A, XM_047429398.1:c.6027G>A, XM_047429399.1:c.6024G>A, XM_047429400.1:c.5919G>A, XM_047429401.1:c.5916G>A, XM_047429402.1:c.5913G>A, XM_047429403.1:c.4893G>A

                            14.

                            rs1486460640 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              12:887237 (GRCh38)
                              12:996403 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:887236:C:A
                              Gene:
                              WNK1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000012/3 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.887237C>A, NC_000012.11:g.996403C>A, NG_007984.3:g.139179C>A, NM_213655.5:c.6053C>A, NM_213655.4:c.6053C>A, NM_018979.4:c.5297C>A, NM_018979.3:c.5297C>A, NM_014823.3:c.4556C>A, NM_014823.2:c.4556C>A, NM_001184985.2:c.6077C>A, NM_001184985.1:c.6077C>A, XM_011520997.4:c.6536C>A, XM_011520997.3:c.6536C>A, XM_011520997.2:c.6536C>A, XM_011520997.1:c.6536C>A, XM_011520999.3:c.6536C>A, XM_011520999.2:c.6536C>A, XM_011520999.1:c.6536C>A, XM_011520998.3:c.6533C>A, XM_011520998.2:c.6533C>A, XM_011520998.1:c.6533C>A, XM_011521000.3:c.6536C>A, XM_011521000.2:c.6536C>A, XM_011521000.1:c.6536C>A, XM_011521001.3:c.6257C>A, XM_011521001.2:c.6257C>A, XM_011521001.1:c.6257C>A, XM_011521002.3:c.6074C>A, XM_011521002.2:c.6074C>A, XM_011521002.1:c.6074C>A, XM_011521003.3:c.5798C>A, XM_011521003.2:c.5798C>A, XM_011521003.1:c.5798C>A, XM_006719003.3:c.5294C>A, XM_006719003.2:c.5294C>A, XM_006719003.1:c.5294C>A, XM_011521006.3:c.5213C>A, XM_011521006.2:c.5213C>A, XM_011521006.1:c.5213C>A, XM_011521007.3:c.5210C>A, XM_011521007.2:c.5210C>A, XM_011521007.1:c.5210C>A, XM_011521008.3:c.4475C>A, XM_011521008.2:c.4475C>A, XM_011521008.1:c.4475C>A, XM_011521009.3:c.4472C>A, XM_011521009.2:c.4472C>A, XM_011521009.1:c.4472C>A, XM_017019834.2:c.4835C>A, XM_017019834.1:c.4835C>A, XM_017019835.2:c.4754C>A, XM_017019835.1:c.4754C>A, XM_017019836.2:c.4751C>A, XM_017019836.1:c.4751C>A, XM_017019837.2:c.4559C>A, XM_017019837.1:c.4559C>A, XM_017019838.2:c.4556C>A, XM_017019838.1:c.4556C>A, XM_047429374.1:c.6536C>A, XM_047429375.1:c.6257C>A, XM_047429376.1:c.6077C>A, XM_047429377.1:c.5297C>A, XM_047429378.1:c.5294C>A, XM_047429379.1:c.5213C>A, XM_047429381.1:c.5213C>A, XM_047429380.1:c.5018C>A, XM_047429383.1:c.5018C>A, XM_047429382.1:c.5015C>A, XM_047429384.1:c.5015C>A, XM_047429385.1:c.4934C>A, XM_047429386.1:c.4931C>A, XM_047429387.1:c.4931C>A, XM_047429388.1:c.4838C>A, XM_047429389.1:c.4838C>A, XM_047429390.1:c.4835C>A, XM_047429391.1:c.4754C>A, XM_047429392.1:c.4751C>A, XM_047429393.1:c.4838C>A, XM_047429394.1:c.4754C>A, XM_047429397.1:c.4754C>A, XM_047429396.1:c.4751C>A, XM_047429395.1:c.4559C>A, XM_047429398.1:c.4475C>A, XM_047429399.1:c.4472C>A, XM_047429400.1:c.4559C>A, XM_047429401.1:c.4556C>A, XM_047429402.1:c.4556C>A, XM_047429403.1:c.3338C>A, NP_998820.3:p.Thr2018Asn, NP_061852.3:p.Thr1766Asn, NP_055638.2:p.Thr1519Asn, NP_001171914.1:p.Thr2026Asn, XP_011519299.1:p.Thr2179Asn, XP_011519301.1:p.Thr2179Asn, XP_011519300.1:p.Thr2178Asn, XP_011519302.1:p.Thr2179Asn, XP_011519303.1:p.Thr2086Asn, XP_011519304.1:p.Thr2025Asn, XP_011519305.1:p.Thr1933Asn, XP_006719066.1:p.Thr1765Asn, XP_011519308.1:p.Thr1738Asn, XP_011519309.1:p.Thr1737Asn, XP_011519310.1:p.Thr1492Asn, XP_011519311.1:p.Thr1491Asn, XP_016875323.1:p.Thr1612Asn, XP_016875324.1:p.Thr1585Asn, XP_016875325.1:p.Thr1584Asn, XP_016875326.1:p.Thr1520Asn, XP_016875327.1:p.Thr1519Asn, XP_047285330.1:p.Thr2179Asn, XP_047285331.1:p.Thr2086Asn, XP_047285332.1:p.Thr2026Asn, XP_047285333.1:p.Thr1766Asn, XP_047285334.1:p.Thr1765Asn, XP_047285335.1:p.Thr1738Asn, XP_047285337.1:p.Thr1738Asn, XP_047285336.1:p.Thr1673Asn, XP_047285339.1:p.Thr1673Asn, XP_047285338.1:p.Thr1672Asn, XP_047285340.1:p.Thr1672Asn, XP_047285341.1:p.Thr1645Asn, XP_047285342.1:p.Thr1644Asn, XP_047285343.1:p.Thr1644Asn, XP_047285344.1:p.Thr1613Asn, XP_047285345.1:p.Thr1613Asn, XP_047285346.1:p.Thr1612Asn, XP_047285347.1:p.Thr1585Asn, XP_047285348.1:p.Thr1584Asn, XP_047285349.1:p.Thr1613Asn, XP_047285350.1:p.Thr1585Asn, XP_047285353.1:p.Thr1585Asn, XP_047285352.1:p.Thr1584Asn, XP_047285351.1:p.Thr1520Asn, XP_047285354.1:p.Thr1492Asn, XP_047285355.1:p.Thr1491Asn, XP_047285356.1:p.Thr1520Asn, XP_047285357.1:p.Thr1519Asn, XP_047285358.1:p.Thr1519Asn, XP_047285359.1:p.Thr1113Asn

                              15.

                              rs1486113338 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:861123 (GRCh38)
                                12:970289 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:861122:G:A
                                Gene:
                                WNK1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                HGVS:
                                NC_000012.12:g.861123G>A, NC_000012.11:g.970289G>A, NG_007984.3:g.113065G>A, NM_213655.5:c.1731G>A, NM_213655.4:c.1731G>A, NM_018979.4:c.1731G>A, NM_018979.3:c.1731G>A, NM_014823.3:c.1731G>A, NM_014823.2:c.1731G>A, NM_001184985.2:c.1731G>A, NM_001184985.1:c.1731G>A, XM_011520997.4:c.1731G>A, XM_011520997.3:c.1731G>A, XM_011520997.2:c.1731G>A, XM_011520997.1:c.1731G>A, XM_011520999.3:c.1731G>A, XM_011520999.2:c.1731G>A, XM_011520999.1:c.1731G>A, XM_011520998.3:c.1731G>A, XM_011520998.2:c.1731G>A, XM_011520998.1:c.1731G>A, XM_011521000.3:c.1731G>A, XM_011521000.2:c.1731G>A, XM_011521000.1:c.1731G>A, XM_011521001.3:c.1731G>A, XM_011521001.2:c.1731G>A, XM_011521001.1:c.1731G>A, XM_011521002.3:c.1731G>A, XM_011521002.2:c.1731G>A, XM_011521002.1:c.1731G>A, XM_011521003.3:c.1731G>A, XM_011521003.2:c.1731G>A, XM_011521003.1:c.1731G>A, XM_006719003.3:c.1731G>A, XM_006719003.2:c.1731G>A, XM_006719003.1:c.1731G>A, XM_011521006.3:c.1731G>A, XM_011521006.2:c.1731G>A, XM_011521006.1:c.1731G>A, XM_011521007.3:c.1731G>A, XM_011521007.2:c.1731G>A, XM_011521007.1:c.1731G>A, XM_011521008.3:c.1731G>A, XM_011521008.2:c.1731G>A, XM_011521008.1:c.1731G>A, XM_011521009.3:c.1731G>A, XM_011521009.2:c.1731G>A, XM_011521009.1:c.1731G>A, XM_017019834.2:c.1731G>A, XM_017019834.1:c.1731G>A, XM_017019835.2:c.1731G>A, XM_017019835.1:c.1731G>A, XM_017019836.2:c.1731G>A, XM_017019836.1:c.1731G>A, XM_017019837.2:c.1731G>A, XM_017019837.1:c.1731G>A, XM_017019838.2:c.1731G>A, XM_017019838.1:c.1731G>A, XM_047429374.1:c.1731G>A, XM_047429375.1:c.1731G>A, XM_047429376.1:c.1731G>A, XM_047429377.1:c.1731G>A, XM_047429378.1:c.1731G>A, XM_047429379.1:c.1731G>A, XM_047429381.1:c.1731G>A, XM_047429380.1:c.1731G>A, XM_047429383.1:c.1731G>A, XM_047429382.1:c.1731G>A, XM_047429384.1:c.1731G>A, XM_047429385.1:c.1731G>A, XM_047429386.1:c.1731G>A, XM_047429387.1:c.1731G>A, XM_047429388.1:c.1731G>A, XM_047429389.1:c.1731G>A, XM_047429390.1:c.1731G>A, XM_047429391.1:c.1731G>A, XM_047429392.1:c.1731G>A, XM_047429393.1:c.1731G>A, XM_047429394.1:c.1731G>A, XM_047429397.1:c.1731G>A, XM_047429396.1:c.1731G>A, XM_047429395.1:c.1731G>A, XM_047429398.1:c.1731G>A, XM_047429399.1:c.1731G>A, XM_047429400.1:c.1731G>A, XM_047429401.1:c.1731G>A, XM_047429402.1:c.1731G>A, XM_047429403.1:c.510G>A

                                16.

                                rs1484672765 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  12:882943 (GRCh38)
                                  12:992109 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:882942:G:T
                                  Gene:
                                  WNK1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.00082/11 (ALFA)
                                  T=0.00179/8 (Estonian)
                                  HGVS:
                                  NC_000012.12:g.882943G>T, NC_000012.11:g.992109G>T, NG_007984.3:g.134885G>T, NM_213655.5:c.4129G>T, NM_213655.4:c.4129G>T, NM_018979.4:c.3373G>T, NM_018979.3:c.3373G>T, NM_014823.3:c.2632G>T, NM_014823.2:c.2632G>T, NM_001184985.2:c.4153G>T, NM_001184985.1:c.4153G>T, XM_011520997.4:c.4612G>T, XM_011520997.3:c.4612G>T, XM_011520997.2:c.4612G>T, XM_011520997.1:c.4612G>T, XM_011520999.3:c.4612G>T, XM_011520999.2:c.4612G>T, XM_011520999.1:c.4612G>T, XM_011520998.3:c.4609G>T, XM_011520998.2:c.4609G>T, XM_011520998.1:c.4609G>T, XM_011521000.3:c.4612G>T, XM_011521000.2:c.4612G>T, XM_011521000.1:c.4612G>T, XM_011521001.3:c.4333G>T, XM_011521001.2:c.4333G>T, XM_011521001.1:c.4333G>T, XM_011521002.3:c.4150G>T, XM_011521002.2:c.4150G>T, XM_011521002.1:c.4150G>T, XM_011521003.3:c.3874G>T, XM_011521003.2:c.3874G>T, XM_011521003.1:c.3874G>T, XM_006719003.3:c.3370G>T, XM_006719003.2:c.3370G>T, XM_006719003.1:c.3370G>T, XM_011521006.3:c.3289G>T, XM_011521006.2:c.3289G>T, XM_011521006.1:c.3289G>T, XM_011521007.3:c.3286G>T, XM_011521007.2:c.3286G>T, XM_011521007.1:c.3286G>T, XM_011521008.3:c.2551G>T, XM_011521008.2:c.2551G>T, XM_011521008.1:c.2551G>T, XM_011521009.3:c.2548G>T, XM_011521009.2:c.2548G>T, XM_011521009.1:c.2548G>T, XM_017019834.2:c.2911G>T, XM_017019834.1:c.2911G>T, XM_017019835.2:c.2830G>T, XM_017019835.1:c.2830G>T, XM_017019836.2:c.2827G>T, XM_017019836.1:c.2827G>T, XM_017019837.2:c.2635G>T, XM_017019837.1:c.2635G>T, XM_017019838.2:c.2632G>T, XM_017019838.1:c.2632G>T, XM_047429374.1:c.4612G>T, XM_047429375.1:c.4333G>T, XM_047429376.1:c.4153G>T, XM_047429377.1:c.3373G>T, XM_047429378.1:c.3370G>T, XM_047429379.1:c.3289G>T, XM_047429381.1:c.3289G>T, XM_047429380.1:c.3094G>T, XM_047429383.1:c.3094G>T, XM_047429382.1:c.3091G>T, XM_047429384.1:c.3091G>T, XM_047429385.1:c.3010G>T, XM_047429386.1:c.3007G>T, XM_047429387.1:c.3007G>T, XM_047429388.1:c.2914G>T, XM_047429389.1:c.2914G>T, XM_047429390.1:c.2911G>T, XM_047429391.1:c.2830G>T, XM_047429392.1:c.2827G>T, XM_047429393.1:c.2914G>T, XM_047429394.1:c.2830G>T, XM_047429397.1:c.2830G>T, XM_047429396.1:c.2827G>T, XM_047429395.1:c.2635G>T, XM_047429398.1:c.2551G>T, XM_047429399.1:c.2548G>T, XM_047429400.1:c.2635G>T, XM_047429401.1:c.2632G>T, XM_047429402.1:c.2632G>T, XM_047429403.1:c.1414G>T, NP_998820.3:p.Val1377Phe, NP_061852.3:p.Val1125Phe, NP_055638.2:p.Val878Phe, NP_001171914.1:p.Val1385Phe, XP_011519299.1:p.Val1538Phe, XP_011519301.1:p.Val1538Phe, XP_011519300.1:p.Val1537Phe, XP_011519302.1:p.Val1538Phe, XP_011519303.1:p.Val1445Phe, XP_011519304.1:p.Val1384Phe, XP_011519305.1:p.Val1292Phe, XP_006719066.1:p.Val1124Phe, XP_011519308.1:p.Val1097Phe, XP_011519309.1:p.Val1096Phe, XP_011519310.1:p.Val851Phe, XP_011519311.1:p.Val850Phe, XP_016875323.1:p.Val971Phe, XP_016875324.1:p.Val944Phe, XP_016875325.1:p.Val943Phe, XP_016875326.1:p.Val879Phe, XP_016875327.1:p.Val878Phe, XP_047285330.1:p.Val1538Phe, XP_047285331.1:p.Val1445Phe, XP_047285332.1:p.Val1385Phe, XP_047285333.1:p.Val1125Phe, XP_047285334.1:p.Val1124Phe, XP_047285335.1:p.Val1097Phe, XP_047285337.1:p.Val1097Phe, XP_047285336.1:p.Val1032Phe, XP_047285339.1:p.Val1032Phe, XP_047285338.1:p.Val1031Phe, XP_047285340.1:p.Val1031Phe, XP_047285341.1:p.Val1004Phe, XP_047285342.1:p.Val1003Phe, XP_047285343.1:p.Val1003Phe, XP_047285344.1:p.Val972Phe, XP_047285345.1:p.Val972Phe, XP_047285346.1:p.Val971Phe, XP_047285347.1:p.Val944Phe, XP_047285348.1:p.Val943Phe, XP_047285349.1:p.Val972Phe, XP_047285350.1:p.Val944Phe, XP_047285353.1:p.Val944Phe, XP_047285352.1:p.Val943Phe, XP_047285351.1:p.Val879Phe, XP_047285354.1:p.Val851Phe, XP_047285355.1:p.Val850Phe, XP_047285356.1:p.Val879Phe, XP_047285357.1:p.Val878Phe, XP_047285358.1:p.Val878Phe, XP_047285359.1:p.Val472Phe

                                  17.

                                  rs1484136744 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    12:884153 (GRCh38)
                                    12:993319 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:884152:C:A
                                    Gene:
                                    WNK1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.884153C>A, NC_000012.11:g.993319C>A, NG_007984.3:g.136095C>A, NM_213655.5:c.4510C>A, NM_213655.4:c.4510C>A, NM_018979.4:c.3754C>A, NM_018979.3:c.3754C>A, NM_014823.3:c.3013C>A, NM_014823.2:c.3013C>A, NM_001184985.2:c.4534C>A, NM_001184985.1:c.4534C>A, XM_011520997.4:c.4993C>A, XM_011520997.3:c.4993C>A, XM_011520997.2:c.4993C>A, XM_011520997.1:c.4993C>A, XM_011520999.3:c.4993C>A, XM_011520999.2:c.4993C>A, XM_011520999.1:c.4993C>A, XM_011520998.3:c.4990C>A, XM_011520998.2:c.4990C>A, XM_011520998.1:c.4990C>A, XM_011521000.3:c.4993C>A, XM_011521000.2:c.4993C>A, XM_011521000.1:c.4993C>A, XM_011521001.3:c.4714C>A, XM_011521001.2:c.4714C>A, XM_011521001.1:c.4714C>A, XM_011521002.3:c.4531C>A, XM_011521002.2:c.4531C>A, XM_011521002.1:c.4531C>A, XM_011521003.3:c.4255C>A, XM_011521003.2:c.4255C>A, XM_011521003.1:c.4255C>A, XM_006719003.3:c.3751C>A, XM_006719003.2:c.3751C>A, XM_006719003.1:c.3751C>A, XM_011521006.3:c.3670C>A, XM_011521006.2:c.3670C>A, XM_011521006.1:c.3670C>A, XM_011521007.3:c.3667C>A, XM_011521007.2:c.3667C>A, XM_011521007.1:c.3667C>A, XM_011521008.3:c.2932C>A, XM_011521008.2:c.2932C>A, XM_011521008.1:c.2932C>A, XM_011521009.3:c.2929C>A, XM_011521009.2:c.2929C>A, XM_011521009.1:c.2929C>A, XM_017019834.2:c.3292C>A, XM_017019834.1:c.3292C>A, XM_017019835.2:c.3211C>A, XM_017019835.1:c.3211C>A, XM_017019836.2:c.3208C>A, XM_017019836.1:c.3208C>A, XM_017019837.2:c.3016C>A, XM_017019837.1:c.3016C>A, XM_017019838.2:c.3013C>A, XM_017019838.1:c.3013C>A, XM_047429374.1:c.4993C>A, XM_047429375.1:c.4714C>A, XM_047429376.1:c.4534C>A, XM_047429377.1:c.3754C>A, XM_047429378.1:c.3751C>A, XM_047429379.1:c.3670C>A, XM_047429381.1:c.3670C>A, XM_047429380.1:c.3475C>A, XM_047429383.1:c.3475C>A, XM_047429382.1:c.3472C>A, XM_047429384.1:c.3472C>A, XM_047429385.1:c.3391C>A, XM_047429386.1:c.3388C>A, XM_047429387.1:c.3388C>A, XM_047429388.1:c.3295C>A, XM_047429389.1:c.3295C>A, XM_047429390.1:c.3292C>A, XM_047429391.1:c.3211C>A, XM_047429392.1:c.3208C>A, XM_047429393.1:c.3295C>A, XM_047429394.1:c.3211C>A, XM_047429397.1:c.3211C>A, XM_047429396.1:c.3208C>A, XM_047429395.1:c.3016C>A, XM_047429398.1:c.2932C>A, XM_047429399.1:c.2929C>A, XM_047429400.1:c.3016C>A, XM_047429401.1:c.3013C>A, XM_047429402.1:c.3013C>A, XM_047429403.1:c.1795C>A, NP_998820.3:p.His1504Asn, NP_061852.3:p.His1252Asn, NP_055638.2:p.His1005Asn, NP_001171914.1:p.His1512Asn, XP_011519299.1:p.His1665Asn, XP_011519301.1:p.His1665Asn, XP_011519300.1:p.His1664Asn, XP_011519302.1:p.His1665Asn, XP_011519303.1:p.His1572Asn, XP_011519304.1:p.His1511Asn, XP_011519305.1:p.His1419Asn, XP_006719066.1:p.His1251Asn, XP_011519308.1:p.His1224Asn, XP_011519309.1:p.His1223Asn, XP_011519310.1:p.His978Asn, XP_011519311.1:p.His977Asn, XP_016875323.1:p.His1098Asn, XP_016875324.1:p.His1071Asn, XP_016875325.1:p.His1070Asn, XP_016875326.1:p.His1006Asn, XP_016875327.1:p.His1005Asn, XP_047285330.1:p.His1665Asn, XP_047285331.1:p.His1572Asn, XP_047285332.1:p.His1512Asn, XP_047285333.1:p.His1252Asn, XP_047285334.1:p.His1251Asn, XP_047285335.1:p.His1224Asn, XP_047285337.1:p.His1224Asn, XP_047285336.1:p.His1159Asn, XP_047285339.1:p.His1159Asn, XP_047285338.1:p.His1158Asn, XP_047285340.1:p.His1158Asn, XP_047285341.1:p.His1131Asn, XP_047285342.1:p.His1130Asn, XP_047285343.1:p.His1130Asn, XP_047285344.1:p.His1099Asn, XP_047285345.1:p.His1099Asn, XP_047285346.1:p.His1098Asn, XP_047285347.1:p.His1071Asn, XP_047285348.1:p.His1070Asn, XP_047285349.1:p.His1099Asn, XP_047285350.1:p.His1071Asn, XP_047285353.1:p.His1071Asn, XP_047285352.1:p.His1070Asn, XP_047285351.1:p.His1006Asn, XP_047285354.1:p.His978Asn, XP_047285355.1:p.His977Asn, XP_047285356.1:p.His1006Asn, XP_047285357.1:p.His1005Asn, XP_047285358.1:p.His1005Asn, XP_047285359.1:p.His599Asn

                                    18.

                                    rs1484048633 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      12:880770 (GRCh38)
                                      12:989936 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:880769:C:T
                                      Gene:
                                      WNK1 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000012.12:g.880770C>T, NC_000012.11:g.989936C>T, NG_007984.3:g.132712C>T, NM_018979.4:c.2882C>T, NM_018979.3:c.2882C>T, NM_001184985.2:c.3662C>T, NM_001184985.1:c.3662C>T, XM_011520997.4:c.4121C>T, XM_011520997.3:c.4121C>T, XM_011520997.2:c.4121C>T, XM_011520997.1:c.4121C>T, XM_011520999.3:c.4121C>T, XM_011520999.2:c.4121C>T, XM_011520999.1:c.4121C>T, XM_011520998.3:c.4118C>T, XM_011520998.2:c.4118C>T, XM_011520998.1:c.4118C>T, XM_011521000.3:c.4121C>T, XM_011521000.2:c.4121C>T, XM_011521000.1:c.4121C>T, XM_011521002.3:c.3659C>T, XM_011521002.2:c.3659C>T, XM_011521002.1:c.3659C>T, XM_006719003.3:c.2879C>T, XM_006719003.2:c.2879C>T, XM_006719003.1:c.2879C>T, XM_011521006.3:c.2798C>T, XM_011521006.2:c.2798C>T, XM_011521006.1:c.2798C>T, XM_011521007.3:c.2795C>T, XM_011521007.2:c.2795C>T, XM_011521007.1:c.2795C>T, XM_017019834.2:c.2420C>T, XM_017019834.1:c.2420C>T, XM_017019835.2:c.2339C>T, XM_017019835.1:c.2339C>T, XM_017019836.2:c.2336C>T, XM_017019836.1:c.2336C>T, XM_047429374.1:c.4121C>T, XM_047429376.1:c.3662C>T, XM_047429377.1:c.2882C>T, XM_047429378.1:c.2879C>T, XM_047429379.1:c.2798C>T, XM_047429381.1:c.2798C>T, XM_047429388.1:c.2423C>T, XM_047429389.1:c.2423C>T, XM_047429390.1:c.2420C>T, XM_047429391.1:c.2339C>T, XM_047429392.1:c.2336C>T, XM_047429393.1:c.2423C>T, XM_047429394.1:c.2339C>T, XM_047429397.1:c.2339C>T, XM_047429396.1:c.2336C>T, NP_061852.3:p.Ala961Val, NP_001171914.1:p.Ala1221Val, XP_011519299.1:p.Ala1374Val, XP_011519301.1:p.Ala1374Val, XP_011519300.1:p.Ala1373Val, XP_011519302.1:p.Ala1374Val, XP_011519304.1:p.Ala1220Val, XP_006719066.1:p.Ala960Val, XP_011519308.1:p.Ala933Val, XP_011519309.1:p.Ala932Val, XP_016875323.1:p.Ala807Val, XP_016875324.1:p.Ala780Val, XP_016875325.1:p.Ala779Val, XP_047285330.1:p.Ala1374Val, XP_047285332.1:p.Ala1221Val, XP_047285333.1:p.Ala961Val, XP_047285334.1:p.Ala960Val, XP_047285335.1:p.Ala933Val, XP_047285337.1:p.Ala933Val, XP_047285344.1:p.Ala808Val, XP_047285345.1:p.Ala808Val, XP_047285346.1:p.Ala807Val, XP_047285347.1:p.Ala780Val, XP_047285348.1:p.Ala779Val, XP_047285349.1:p.Ala808Val, XP_047285350.1:p.Ala780Val, XP_047285353.1:p.Ala780Val, XP_047285352.1:p.Ala779Val

                                      19.

                                      rs1484042313 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:883526 (GRCh38)
                                        12:992692 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:883525:G:A
                                        Gene:
                                        WNK1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000012.12:g.883526G>A, NC_000012.11:g.992692G>A, NG_007984.3:g.135468G>A, NM_213655.5:c.4377G>A, NM_213655.4:c.4377G>A, NM_018979.4:c.3621G>A, NM_018979.3:c.3621G>A, NM_014823.3:c.2880G>A, NM_014823.2:c.2880G>A, NM_001184985.2:c.4401G>A, NM_001184985.1:c.4401G>A, XM_011520997.4:c.4860G>A, XM_011520997.3:c.4860G>A, XM_011520997.2:c.4860G>A, XM_011520997.1:c.4860G>A, XM_011520999.3:c.4860G>A, XM_011520999.2:c.4860G>A, XM_011520999.1:c.4860G>A, XM_011520998.3:c.4857G>A, XM_011520998.2:c.4857G>A, XM_011520998.1:c.4857G>A, XM_011521000.3:c.4860G>A, XM_011521000.2:c.4860G>A, XM_011521000.1:c.4860G>A, XM_011521001.3:c.4581G>A, XM_011521001.2:c.4581G>A, XM_011521001.1:c.4581G>A, XM_011521002.3:c.4398G>A, XM_011521002.2:c.4398G>A, XM_011521002.1:c.4398G>A, XM_011521003.3:c.4122G>A, XM_011521003.2:c.4122G>A, XM_011521003.1:c.4122G>A, XM_006719003.3:c.3618G>A, XM_006719003.2:c.3618G>A, XM_006719003.1:c.3618G>A, XM_011521006.3:c.3537G>A, XM_011521006.2:c.3537G>A, XM_011521006.1:c.3537G>A, XM_011521007.3:c.3534G>A, XM_011521007.2:c.3534G>A, XM_011521007.1:c.3534G>A, XM_011521008.3:c.2799G>A, XM_011521008.2:c.2799G>A, XM_011521008.1:c.2799G>A, XM_011521009.3:c.2796G>A, XM_011521009.2:c.2796G>A, XM_011521009.1:c.2796G>A, XM_017019834.2:c.3159G>A, XM_017019834.1:c.3159G>A, XM_017019835.2:c.3078G>A, XM_017019835.1:c.3078G>A, XM_017019836.2:c.3075G>A, XM_017019836.1:c.3075G>A, XM_017019837.2:c.2883G>A, XM_017019837.1:c.2883G>A, XM_017019838.2:c.2880G>A, XM_017019838.1:c.2880G>A, XM_047429374.1:c.4860G>A, XM_047429375.1:c.4581G>A, XM_047429376.1:c.4401G>A, XM_047429377.1:c.3621G>A, XM_047429378.1:c.3618G>A, XM_047429379.1:c.3537G>A, XM_047429381.1:c.3537G>A, XM_047429380.1:c.3342G>A, XM_047429383.1:c.3342G>A, XM_047429382.1:c.3339G>A, XM_047429384.1:c.3339G>A, XM_047429385.1:c.3258G>A, XM_047429386.1:c.3255G>A, XM_047429387.1:c.3255G>A, XM_047429388.1:c.3162G>A, XM_047429389.1:c.3162G>A, XM_047429390.1:c.3159G>A, XM_047429391.1:c.3078G>A, XM_047429392.1:c.3075G>A, XM_047429393.1:c.3162G>A, XM_047429394.1:c.3078G>A, XM_047429397.1:c.3078G>A, XM_047429396.1:c.3075G>A, XM_047429395.1:c.2883G>A, XM_047429398.1:c.2799G>A, XM_047429399.1:c.2796G>A, XM_047429400.1:c.2883G>A, XM_047429401.1:c.2880G>A, XM_047429402.1:c.2880G>A, XM_047429403.1:c.1662G>A

                                        20.

                                        rs1483871160 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          12:753779 (GRCh38)
                                          12:862945 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:753778:A:C,NC_000012.12:753778:A:G
                                          Gene:
                                          WNK1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000012.12:g.753779A>C, NC_000012.12:g.753779A>G, NC_000012.11:g.862945A>C, NC_000012.11:g.862945A>G, NG_007984.3:g.5721A>C, NG_007984.3:g.5721A>G, NM_213655.5:c.214A>C, NM_213655.5:c.214A>G, NM_213655.4:c.214A>C, NM_213655.4:c.214A>G, NM_018979.4:c.214A>C, NM_018979.4:c.214A>G, NM_018979.3:c.214A>C, NM_018979.3:c.214A>G, NM_014823.3:c.214A>C, NM_014823.3:c.214A>G, NM_014823.2:c.214A>C, NM_014823.2:c.214A>G, NM_001184985.2:c.214A>C, NM_001184985.2:c.214A>G, NM_001184985.1:c.214A>C, NM_001184985.1:c.214A>G, XM_011520997.4:c.214A>C, XM_011520997.4:c.214A>G, XM_011520997.3:c.214A>C, XM_011520997.3:c.214A>G, XM_011520997.2:c.214A>C, XM_011520997.2:c.214A>G, XM_011520997.1:c.214A>C, XM_011520997.1:c.214A>G, XM_011520999.3:c.214A>C, XM_011520999.3:c.214A>G, XM_011520999.2:c.214A>C, XM_011520999.2:c.214A>G, XM_011520999.1:c.214A>C, XM_011520999.1:c.214A>G, XM_011520998.3:c.214A>C, XM_011520998.3:c.214A>G, XM_011520998.2:c.214A>C, XM_011520998.2:c.214A>G, XM_011520998.1:c.214A>C, XM_011520998.1:c.214A>G, XM_011521000.3:c.214A>C, XM_011521000.3:c.214A>G, XM_011521000.2:c.214A>C, XM_011521000.2:c.214A>G, XM_011521000.1:c.214A>C, XM_011521000.1:c.214A>G, XM_011521001.3:c.214A>C, XM_011521001.3:c.214A>G, XM_011521001.2:c.214A>C, XM_011521001.2:c.214A>G, XM_011521001.1:c.214A>C, XM_011521001.1:c.214A>G, XM_011521002.3:c.214A>C, XM_011521002.3:c.214A>G, XM_011521002.2:c.214A>C, XM_011521002.2:c.214A>G, XM_011521002.1:c.214A>C, XM_011521002.1:c.214A>G, XM_011521003.3:c.214A>C, XM_011521003.3:c.214A>G, XM_011521003.2:c.214A>C, XM_011521003.2:c.214A>G, XM_011521003.1:c.214A>C, XM_011521003.1:c.214A>G, XM_006719003.3:c.214A>C, XM_006719003.3:c.214A>G, XM_006719003.2:c.214A>C, XM_006719003.2:c.214A>G, XM_006719003.1:c.214A>C, XM_006719003.1:c.214A>G, XM_011521006.3:c.214A>C, XM_011521006.3:c.214A>G, XM_011521006.2:c.214A>C, XM_011521006.2:c.214A>G, XM_011521006.1:c.214A>C, XM_011521006.1:c.214A>G, XM_011521007.3:c.214A>C, XM_011521007.3:c.214A>G, XM_011521007.2:c.214A>C, XM_011521007.2:c.214A>G, XM_011521007.1:c.214A>C, XM_011521007.1:c.214A>G, XM_011521008.3:c.214A>C, XM_011521008.3:c.214A>G, XM_011521008.2:c.214A>C, XM_011521008.2:c.214A>G, XM_011521008.1:c.214A>C, XM_011521008.1:c.214A>G, XM_011521009.3:c.214A>C, XM_011521009.3:c.214A>G, XM_011521009.2:c.214A>C, XM_011521009.2:c.214A>G, XM_011521009.1:c.214A>C, XM_011521009.1:c.214A>G, XM_017019834.2:c.214A>C, XM_017019834.2:c.214A>G, XM_017019834.1:c.214A>C, XM_017019834.1:c.214A>G, XM_017019835.2:c.214A>C, XM_017019835.2:c.214A>G, XM_017019835.1:c.214A>C, XM_017019835.1:c.214A>G, XM_017019836.2:c.214A>C, XM_017019836.2:c.214A>G, XM_017019836.1:c.214A>C, XM_017019836.1:c.214A>G, XM_017019837.2:c.214A>C, XM_017019837.2:c.214A>G, XM_017019837.1:c.214A>C, XM_017019837.1:c.214A>G, XM_017019838.2:c.214A>C, XM_017019838.2:c.214A>G, XM_017019838.1:c.214A>C, XM_017019838.1:c.214A>G, XM_047429374.1:c.214A>C, XM_047429374.1:c.214A>G, XM_047429375.1:c.214A>C, XM_047429375.1:c.214A>G, XM_047429376.1:c.214A>C, XM_047429376.1:c.214A>G, XM_047429377.1:c.214A>C, XM_047429377.1:c.214A>G, XM_047429378.1:c.214A>C, XM_047429378.1:c.214A>G, XM_047429379.1:c.214A>C, XM_047429379.1:c.214A>G, XM_047429381.1:c.214A>C, XM_047429381.1:c.214A>G, XM_047429380.1:c.214A>C, XM_047429380.1:c.214A>G, XM_047429383.1:c.214A>C, XM_047429383.1:c.214A>G, XM_047429382.1:c.214A>C, XM_047429382.1:c.214A>G, XM_047429384.1:c.214A>C, XM_047429384.1:c.214A>G, XM_047429385.1:c.214A>C, XM_047429385.1:c.214A>G, XM_047429386.1:c.214A>C, XM_047429386.1:c.214A>G, XM_047429387.1:c.214A>C, XM_047429387.1:c.214A>G, XM_047429388.1:c.214A>C, XM_047429388.1:c.214A>G, XM_047429389.1:c.214A>C, XM_047429389.1:c.214A>G, XM_047429390.1:c.214A>C, XM_047429390.1:c.214A>G, XM_047429391.1:c.214A>C, XM_047429391.1:c.214A>G, XM_047429392.1:c.214A>C, XM_047429392.1:c.214A>G, XM_047429393.1:c.214A>C, XM_047429393.1:c.214A>G, XM_047429394.1:c.214A>C, XM_047429394.1:c.214A>G, XM_047429397.1:c.214A>C, XM_047429397.1:c.214A>G, XM_047429396.1:c.214A>C, XM_047429396.1:c.214A>G, XM_047429395.1:c.214A>C, XM_047429395.1:c.214A>G, XM_047429398.1:c.214A>C, XM_047429398.1:c.214A>G, XM_047429399.1:c.214A>C, XM_047429399.1:c.214A>G, XM_047429400.1:c.214A>C, XM_047429400.1:c.214A>G, XM_047429401.1:c.214A>C, XM_047429401.1:c.214A>G, XM_047429402.1:c.214A>C, XM_047429402.1:c.214A>G, NP_998820.3:p.Thr72Pro, NP_998820.3:p.Thr72Ala, NP_061852.3:p.Thr72Pro, NP_061852.3:p.Thr72Ala, NP_055638.2:p.Thr72Pro, NP_055638.2:p.Thr72Ala, NP_001171914.1:p.Thr72Pro, NP_001171914.1:p.Thr72Ala, XP_011519299.1:p.Thr72Pro, XP_011519299.1:p.Thr72Ala, XP_011519301.1:p.Thr72Pro, XP_011519301.1:p.Thr72Ala, XP_011519300.1:p.Thr72Pro, XP_011519300.1:p.Thr72Ala, XP_011519302.1:p.Thr72Pro, XP_011519302.1:p.Thr72Ala, XP_011519303.1:p.Thr72Pro, XP_011519303.1:p.Thr72Ala, XP_011519304.1:p.Thr72Pro, XP_011519304.1:p.Thr72Ala, XP_011519305.1:p.Thr72Pro, XP_011519305.1:p.Thr72Ala, XP_006719066.1:p.Thr72Pro, XP_006719066.1:p.Thr72Ala, XP_011519308.1:p.Thr72Pro, XP_011519308.1:p.Thr72Ala, XP_011519309.1:p.Thr72Pro, XP_011519309.1:p.Thr72Ala, XP_011519310.1:p.Thr72Pro, XP_011519310.1:p.Thr72Ala, XP_011519311.1:p.Thr72Pro, XP_011519311.1:p.Thr72Ala, XP_016875323.1:p.Thr72Pro, XP_016875323.1:p.Thr72Ala, XP_016875324.1:p.Thr72Pro, XP_016875324.1:p.Thr72Ala, XP_016875325.1:p.Thr72Pro, XP_016875325.1:p.Thr72Ala, XP_016875326.1:p.Thr72Pro, XP_016875326.1:p.Thr72Ala, XP_016875327.1:p.Thr72Pro, XP_016875327.1:p.Thr72Ala, XP_047285330.1:p.Thr72Pro, XP_047285330.1:p.Thr72Ala, XP_047285331.1:p.Thr72Pro, XP_047285331.1:p.Thr72Ala, XP_047285332.1:p.Thr72Pro, XP_047285332.1:p.Thr72Ala, XP_047285333.1:p.Thr72Pro, XP_047285333.1:p.Thr72Ala, XP_047285334.1:p.Thr72Pro, XP_047285334.1:p.Thr72Ala, XP_047285335.1:p.Thr72Pro, XP_047285335.1:p.Thr72Ala, XP_047285337.1:p.Thr72Pro, XP_047285337.1:p.Thr72Ala, XP_047285336.1:p.Thr72Pro, XP_047285336.1:p.Thr72Ala, XP_047285339.1:p.Thr72Pro, XP_047285339.1:p.Thr72Ala, XP_047285338.1:p.Thr72Pro, XP_047285338.1:p.Thr72Ala, XP_047285340.1:p.Thr72Pro, XP_047285340.1:p.Thr72Ala, XP_047285341.1:p.Thr72Pro, XP_047285341.1:p.Thr72Ala, XP_047285342.1:p.Thr72Pro, XP_047285342.1:p.Thr72Ala, XP_047285343.1:p.Thr72Pro, XP_047285343.1:p.Thr72Ala, XP_047285344.1:p.Thr72Pro, XP_047285344.1:p.Thr72Ala, XP_047285345.1:p.Thr72Pro, XP_047285345.1:p.Thr72Ala, XP_047285346.1:p.Thr72Pro, XP_047285346.1:p.Thr72Ala, XP_047285347.1:p.Thr72Pro, XP_047285347.1:p.Thr72Ala, XP_047285348.1:p.Thr72Pro, XP_047285348.1:p.Thr72Ala, XP_047285349.1:p.Thr72Pro, XP_047285349.1:p.Thr72Ala, XP_047285350.1:p.Thr72Pro, XP_047285350.1:p.Thr72Ala, XP_047285353.1:p.Thr72Pro, XP_047285353.1:p.Thr72Ala, XP_047285352.1:p.Thr72Pro, XP_047285352.1:p.Thr72Ala, XP_047285351.1:p.Thr72Pro, XP_047285351.1:p.Thr72Ala, XP_047285354.1:p.Thr72Pro, XP_047285354.1:p.Thr72Ala, XP_047285355.1:p.Thr72Pro, XP_047285355.1:p.Thr72Ala, XP_047285356.1:p.Thr72Pro, XP_047285356.1:p.Thr72Ala, XP_047285357.1:p.Thr72Pro, XP_047285357.1:p.Thr72Ala, XP_047285358.1:p.Thr72Pro, XP_047285358.1:p.Thr72Ala

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