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Items: 1 to 20 of 1128

1.

rs1490536007 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    16:69692539 (GRCh38)
    16:69726442 (GRCh37)
    Canonical SPDI:
    NC_000016.10:69692538:A:T
    Gene:
    NFAT5 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000016.10:g.69692539A>T, NC_000016.9:g.69726442A>T, NG_029600.1:g.132446A>T, NM_138714.4:c.2432A>T, NM_138714.3:c.2432A>T, NM_138713.4:c.2714A>T, NM_138713.3:c.2714A>T, NM_006599.4:c.2660A>T, NM_006599.3:c.2660A>T, NM_173214.3:c.2432A>T, NM_173214.2:c.2432A>T, NM_001113178.3:c.2711A>T, NM_001113178.2:c.2711A>T, NM_173215.3:c.2432A>T, NM_173215.2:c.2432A>T, NM_001367709.1:c.2039A>T, XM_011522817.4:c.2657A>T, XM_011522817.3:c.2657A>T, XM_011522817.2:c.2657A>T, XM_011522817.1:c.2657A>T, XM_011522820.4:c.2042A>T, XM_011522820.3:c.2042A>T, XM_011522820.2:c.2042A>T, XM_011522820.1:c.2042A>T, XM_011522822.4:c.2042A>T, XM_011522822.3:c.2042A>T, XM_011522822.2:c.2042A>T, XM_011522822.1:c.2042A>T, XM_017022872.3:c.2042A>T, XM_017022872.2:c.2042A>T, XM_017022872.1:c.2042A>T, XM_047433510.1:c.2528A>T, XM_047433513.1:c.2525A>T, XM_047433512.1:c.2432A>T, XM_047433514.1:c.2042A>T, XM_047433515.1:c.2039A>T, XR_007064848.1:n.3050A>T, XM_047433511.1:c.2528A>T, NP_619728.2:p.Gln811Leu, NP_619727.2:p.Gln905Leu, NP_006590.1:p.Gln887Leu, NP_775321.1:p.Gln811Leu, NP_001106649.1:p.Gln904Leu, NP_775322.1:p.Gln811Leu, NP_001354638.1:p.Gln680Leu, XP_011521119.1:p.Gln886Leu, XP_011521122.1:p.Gln681Leu, XP_011521124.1:p.Gln681Leu, XP_016878361.1:p.Gln681Leu, XP_047289466.1:p.Gln843Leu, XP_047289469.1:p.Gln842Leu, XP_047289468.1:p.Gln811Leu, XP_047289470.1:p.Gln681Leu, XP_047289471.1:p.Gln680Leu, XP_047289467.1:p.Gln843Leu

    2.

    rs1488428947 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:69655683 (GRCh38)
      16:69689586 (GRCh37)
      Canonical SPDI:
      NC_000016.10:69655682:A:G
      Gene:
      NFAT5 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000016.10:g.69655683A>G, NC_000016.9:g.69689586A>G, NG_029600.1:g.95590A>G, NM_138714.4:c.798A>G, NM_138714.3:c.798A>G, NM_138713.4:c.1080A>G, NM_138713.3:c.1080A>G, NM_006599.4:c.1026A>G, NM_006599.3:c.1026A>G, NM_173214.3:c.798A>G, NM_173214.2:c.798A>G, NM_001113178.3:c.1080A>G, NM_001113178.2:c.1080A>G, NM_173215.3:c.798A>G, NM_173215.2:c.798A>G, NM_001367709.1:c.408A>G, XM_011522817.4:c.1026A>G, XM_011522817.3:c.1026A>G, XM_011522817.2:c.1026A>G, XM_011522817.1:c.1026A>G, XM_011522820.4:c.408A>G, XM_011522820.3:c.408A>G, XM_011522820.2:c.408A>G, XM_011522820.1:c.408A>G, XM_011522822.4:c.408A>G, XM_011522822.3:c.408A>G, XM_011522822.2:c.408A>G, XM_011522822.1:c.408A>G, XM_017022872.3:c.408A>G, XM_017022872.2:c.408A>G, XM_017022872.1:c.408A>G, XM_047433510.1:c.894A>G, XM_047433513.1:c.894A>G, XM_047433512.1:c.798A>G, XM_047433514.1:c.408A>G, XM_047433515.1:c.408A>G, XR_007064848.1:n.1416A>G, XM_047433511.1:c.894A>G

      3.

      rs1488419250 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,T [Show Flanks]
        Chromosome:
        16:69693617 (GRCh38)
        16:69727520 (GRCh37)
        Canonical SPDI:
        NC_000016.10:69693616:A:C,NC_000016.10:69693616:A:T
        Gene:
        NFAT5 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0.00005/1 (ALFA)
        HGVS:
        NC_000016.10:g.69693617A>C, NC_000016.10:g.69693617A>T, NC_000016.9:g.69727520A>C, NC_000016.9:g.69727520A>T, NG_029600.1:g.133524A>C, NG_029600.1:g.133524A>T, NM_138714.4:c.3510A>C, NM_138714.4:c.3510A>T, NM_138714.3:c.3510A>C, NM_138714.3:c.3510A>T, NM_138713.4:c.3792A>C, NM_138713.4:c.3792A>T, NM_138713.3:c.3792A>C, NM_138713.3:c.3792A>T, NM_006599.4:c.3738A>C, NM_006599.4:c.3738A>T, NM_006599.3:c.3738A>C, NM_006599.3:c.3738A>T, NM_173214.3:c.3510A>C, NM_173214.3:c.3510A>T, NM_173214.2:c.3510A>C, NM_173214.2:c.3510A>T, NM_001113178.3:c.3789A>C, NM_001113178.3:c.3789A>T, NM_001113178.2:c.3789A>C, NM_001113178.2:c.3789A>T, NM_173215.3:c.3510A>C, NM_173215.3:c.3510A>T, NM_173215.2:c.3510A>C, NM_173215.2:c.3510A>T, NM_001367709.1:c.3117A>C, NM_001367709.1:c.3117A>T, XM_011522817.4:c.3735A>C, XM_011522817.4:c.3735A>T, XM_011522817.3:c.3735A>C, XM_011522817.3:c.3735A>T, XM_011522817.2:c.3735A>C, XM_011522817.2:c.3735A>T, XM_011522817.1:c.3735A>C, XM_011522817.1:c.3735A>T, XM_011522820.4:c.3120A>C, XM_011522820.4:c.3120A>T, XM_011522820.3:c.3120A>C, XM_011522820.3:c.3120A>T, XM_011522820.2:c.3120A>C, XM_011522820.2:c.3120A>T, XM_011522820.1:c.3120A>C, XM_011522820.1:c.3120A>T, XM_011522822.4:c.3120A>C, XM_011522822.4:c.3120A>T, XM_011522822.3:c.3120A>C, XM_011522822.3:c.3120A>T, XM_011522822.2:c.3120A>C, XM_011522822.2:c.3120A>T, XM_011522822.1:c.3120A>C, XM_011522822.1:c.3120A>T, XM_017022872.3:c.3120A>C, XM_017022872.3:c.3120A>T, XM_017022872.2:c.3120A>C, XM_017022872.2:c.3120A>T, XM_017022872.1:c.3120A>C, XM_017022872.1:c.3120A>T, XM_047433510.1:c.3606A>C, XM_047433510.1:c.3606A>T, XM_047433513.1:c.3603A>C, XM_047433513.1:c.3603A>T, XM_047433512.1:c.3510A>C, XM_047433512.1:c.3510A>T, XM_047433514.1:c.3120A>C, XM_047433514.1:c.3120A>T, XM_047433515.1:c.3117A>C, XM_047433515.1:c.3117A>T, XR_007064848.1:n.4128A>C, XR_007064848.1:n.4128A>T, XM_047433511.1:c.3606A>C, XM_047433511.1:c.3606A>T

        4.

        rs1488062932 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          16:69647433 (GRCh38)
          16:69681336 (GRCh37)
          Canonical SPDI:
          NC_000016.10:69647432:G:A
          Gene:
          NFAT5 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by cluster
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          A=0.000106/2 (TOMMO)
          HGVS:
          NC_000016.10:g.69647433G>A, NC_000016.9:g.69681336G>A, NG_029600.1:g.87340G>A, NM_138714.4:c.377G>A, NM_138714.3:c.377G>A, NM_138713.4:c.659G>A, NM_138713.3:c.659G>A, NM_006599.4:c.605G>A, NM_006599.3:c.605G>A, NM_173214.3:c.377G>A, NM_173214.2:c.377G>A, NM_001113178.3:c.659G>A, NM_001113178.2:c.659G>A, NM_173215.3:c.377G>A, NM_173215.2:c.377G>A, XM_011522817.4:c.605G>A, XM_011522817.3:c.605G>A, XM_011522817.2:c.605G>A, XM_011522817.1:c.605G>A, XM_047433510.1:c.473G>A, XM_047433513.1:c.473G>A, XM_047433512.1:c.377G>A, XR_007064848.1:n.995G>A, XM_047433511.1:c.473G>A, NP_619728.2:p.Arg126Gln, NP_619727.2:p.Arg220Gln, NP_006590.1:p.Arg202Gln, NP_775321.1:p.Arg126Gln, NP_001106649.1:p.Arg220Gln, NP_775322.1:p.Arg126Gln, XP_011521119.1:p.Arg202Gln, XP_047289466.1:p.Arg158Gln, XP_047289469.1:p.Arg158Gln, XP_047289468.1:p.Arg126Gln, XP_047289467.1:p.Arg158Gln

          5.

          rs1487770235 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            16:69647095 (GRCh38)
            16:69680998 (GRCh37)
            Canonical SPDI:
            NC_000016.10:69647094:C:G,NC_000016.10:69647094:C:T
            Gene:
            NFAT5 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.69647095C>G, NC_000016.10:g.69647095C>T, NC_000016.9:g.69680998C>G, NC_000016.9:g.69680998C>T, NG_029600.1:g.87002C>G, NG_029600.1:g.87002C>T, NM_138714.4:c.39C>G, NM_138714.4:c.39C>T, NM_138714.3:c.39C>G, NM_138714.3:c.39C>T, NM_138713.4:c.321C>G, NM_138713.4:c.321C>T, NM_138713.3:c.321C>G, NM_138713.3:c.321C>T, NM_006599.4:c.267C>G, NM_006599.4:c.267C>T, NM_006599.3:c.267C>G, NM_006599.3:c.267C>T, NM_173214.3:c.39C>G, NM_173214.3:c.39C>T, NM_173214.2:c.39C>G, NM_173214.2:c.39C>T, NM_001113178.3:c.321C>G, NM_001113178.3:c.321C>T, NM_001113178.2:c.321C>G, NM_001113178.2:c.321C>T, NM_173215.3:c.39C>G, NM_173215.3:c.39C>T, NM_173215.2:c.39C>G, NM_173215.2:c.39C>T, NM_001367709.1:c.68C>G, NM_001367709.1:c.68C>T, XM_011522817.4:c.267C>G, XM_011522817.4:c.267C>T, XM_011522817.3:c.267C>G, XM_011522817.3:c.267C>T, XM_011522817.2:c.267C>G, XM_011522817.2:c.267C>T, XM_011522817.1:c.267C>G, XM_011522817.1:c.267C>T, XM_011522820.4:c.68C>G, XM_011522820.4:c.68C>T, XM_011522820.3:c.68C>G, XM_011522820.3:c.68C>T, XM_011522820.2:c.68C>G, XM_011522820.2:c.68C>T, XM_011522820.1:c.68C>G, XM_011522820.1:c.68C>T, XM_011522822.4:c.68C>G, XM_011522822.4:c.68C>T, XM_011522822.3:c.68C>G, XM_011522822.3:c.68C>T, XM_011522822.2:c.68C>G, XM_011522822.2:c.68C>T, XM_011522822.1:c.68C>G, XM_011522822.1:c.68C>T, XM_017022872.3:c.68C>G, XM_017022872.3:c.68C>T, XM_017022872.2:c.68C>G, XM_017022872.2:c.68C>T, XM_017022872.1:c.68C>G, XM_017022872.1:c.68C>T, XM_047433510.1:c.135C>G, XM_047433510.1:c.135C>T, XM_047433513.1:c.135C>G, XM_047433513.1:c.135C>T, XM_047433512.1:c.39C>G, XM_047433512.1:c.39C>T, XM_047433514.1:c.68C>G, XM_047433514.1:c.68C>T, XM_047433515.1:c.68C>G, XM_047433515.1:c.68C>T, XR_007064848.1:n.657C>G, XR_007064848.1:n.657C>T, XM_047433511.1:c.135C>G, XM_047433511.1:c.135C>T, NP_619728.2:p.Ser13Arg, NP_619727.2:p.Ser107Arg, NP_006590.1:p.Ser89Arg, NP_775321.1:p.Ser13Arg, NP_001106649.1:p.Ser107Arg, NP_775322.1:p.Ser13Arg, NP_001354638.1:p.Ala23Gly, NP_001354638.1:p.Ala23Val, XP_011521119.1:p.Ser89Arg, XP_011521122.1:p.Ala23Gly, XP_011521122.1:p.Ala23Val, XP_011521124.1:p.Ala23Gly, XP_011521124.1:p.Ala23Val, XP_016878361.1:p.Ala23Gly, XP_016878361.1:p.Ala23Val, XP_047289466.1:p.Ser45Arg, XP_047289469.1:p.Ser45Arg, XP_047289468.1:p.Ser13Arg, XP_047289470.1:p.Ala23Gly, XP_047289470.1:p.Ala23Val, XP_047289471.1:p.Ala23Gly, XP_047289471.1:p.Ala23Val, XP_047289467.1:p.Ser45Arg

            6.

            rs1487589383 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              16:69693194 (GRCh38)
              16:69727097 (GRCh37)
              Canonical SPDI:
              NC_000016.10:69693193:T:C
              Gene:
              NFAT5 (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000016.10:g.69693194T>C, NC_000016.9:g.69727097T>C, NG_029600.1:g.133101T>C, NM_138714.4:c.3087T>C, NM_138714.3:c.3087T>C, NM_138713.4:c.3369T>C, NM_138713.3:c.3369T>C, NM_006599.4:c.3315T>C, NM_006599.3:c.3315T>C, NM_173214.3:c.3087T>C, NM_173214.2:c.3087T>C, NM_001113178.3:c.3366T>C, NM_001113178.2:c.3366T>C, NM_173215.3:c.3087T>C, NM_173215.2:c.3087T>C, NM_001367709.1:c.2694T>C, XM_011522817.4:c.3312T>C, XM_011522817.3:c.3312T>C, XM_011522817.2:c.3312T>C, XM_011522817.1:c.3312T>C, XM_011522820.4:c.2697T>C, XM_011522820.3:c.2697T>C, XM_011522820.2:c.2697T>C, XM_011522820.1:c.2697T>C, XM_011522822.4:c.2697T>C, XM_011522822.3:c.2697T>C, XM_011522822.2:c.2697T>C, XM_011522822.1:c.2697T>C, XM_017022872.3:c.2697T>C, XM_017022872.2:c.2697T>C, XM_017022872.1:c.2697T>C, XM_047433510.1:c.3183T>C, XM_047433513.1:c.3180T>C, XM_047433512.1:c.3087T>C, XM_047433514.1:c.2697T>C, XM_047433515.1:c.2694T>C, XR_007064848.1:n.3705T>C, XM_047433511.1:c.3183T>C

              7.

              rs1487450715 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                16:69647566 (GRCh38)
                16:69681469 (GRCh37)
                Canonical SPDI:
                NC_000016.10:69647565:C:G
                Gene:
                NFAT5 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1486788221 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:69626446 (GRCh38)
                  16:69660349 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:69626445:A:G
                  Gene:
                  NFAT5 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000051/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  HGVS:

                  9.

                  rs1485154075 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    16:69692788 (GRCh38)
                    16:69726691 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:69692787:C:T
                    Gene:
                    NFAT5 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0.000047/1 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.69692788C>T, NC_000016.9:g.69726691C>T, NG_029600.1:g.132695C>T, NM_138714.4:c.2681C>T, NM_138714.3:c.2681C>T, NM_138713.4:c.2963C>T, NM_138713.3:c.2963C>T, NM_006599.4:c.2909C>T, NM_006599.3:c.2909C>T, NM_173214.3:c.2681C>T, NM_173214.2:c.2681C>T, NM_001113178.3:c.2960C>T, NM_001113178.2:c.2960C>T, NM_173215.3:c.2681C>T, NM_173215.2:c.2681C>T, NM_001367709.1:c.2288C>T, XM_011522817.4:c.2906C>T, XM_011522817.3:c.2906C>T, XM_011522817.2:c.2906C>T, XM_011522817.1:c.2906C>T, XM_011522820.4:c.2291C>T, XM_011522820.3:c.2291C>T, XM_011522820.2:c.2291C>T, XM_011522820.1:c.2291C>T, XM_011522822.4:c.2291C>T, XM_011522822.3:c.2291C>T, XM_011522822.2:c.2291C>T, XM_011522822.1:c.2291C>T, XM_017022872.3:c.2291C>T, XM_017022872.2:c.2291C>T, XM_017022872.1:c.2291C>T, XM_047433510.1:c.2777C>T, XM_047433513.1:c.2774C>T, XM_047433512.1:c.2681C>T, XM_047433514.1:c.2291C>T, XM_047433515.1:c.2288C>T, XR_007064848.1:n.3299C>T, XM_047433511.1:c.2777C>T, NP_619728.2:p.Thr894Ile, NP_619727.2:p.Thr988Ile, NP_006590.1:p.Thr970Ile, NP_775321.1:p.Thr894Ile, NP_001106649.1:p.Thr987Ile, NP_775322.1:p.Thr894Ile, NP_001354638.1:p.Thr763Ile, XP_011521119.1:p.Thr969Ile, XP_011521122.1:p.Thr764Ile, XP_011521124.1:p.Thr764Ile, XP_016878361.1:p.Thr764Ile, XP_047289466.1:p.Thr926Ile, XP_047289469.1:p.Thr925Ile, XP_047289468.1:p.Thr894Ile, XP_047289470.1:p.Thr764Ile, XP_047289471.1:p.Thr763Ile, XP_047289467.1:p.Thr926Ile

                    10.

                    rs1484539766 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      16:69626442 (GRCh38)
                      16:69660345 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:69626441:C:T
                      Gene:
                      NFAT5 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1484498652 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        16:69566365 (GRCh38)
                        16:69600268 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:69566364:T:C
                        Gene:
                        NFAT5 (Varview), MIR1538 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000009/2 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1484039997 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          16:69695203 (GRCh38)
                          16:69729106 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:69695202:A:C
                          Gene:
                          NFAT5 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.69695203A>C, NC_000016.9:g.69729106A>C, NG_029600.1:g.135110A>C, NM_138714.4:c.4200A>C, NM_138714.3:c.4200A>C, NM_138713.4:c.4482A>C, NM_138713.3:c.4482A>C, NM_006599.4:c.4428A>C, NM_006599.3:c.4428A>C, NM_173214.3:c.4200A>C, NM_173214.2:c.4200A>C, NM_001113178.3:c.4479A>C, NM_001113178.2:c.4479A>C, NM_173215.3:c.4200A>C, NM_173215.2:c.4200A>C, NM_001367709.1:c.3807A>C, XM_011522817.4:c.4425A>C, XM_011522817.3:c.4425A>C, XM_011522817.2:c.4425A>C, XM_011522817.1:c.4425A>C, XM_011522820.4:c.3810A>C, XM_011522820.3:c.3810A>C, XM_011522820.2:c.3810A>C, XM_011522820.1:c.3810A>C, XM_011522822.4:c.3810A>C, XM_011522822.3:c.3810A>C, XM_011522822.2:c.3810A>C, XM_011522822.1:c.3810A>C, XM_017022872.3:c.3810A>C, XM_017022872.2:c.3810A>C, XM_017022872.1:c.3810A>C, XM_047433510.1:c.4296A>C, XM_047433513.1:c.4293A>C, XM_047433512.1:c.4200A>C, XM_047433514.1:c.3810A>C, XM_047433515.1:c.3807A>C, XR_007064848.1:n.4861A>C, XM_047433511.1:c.4296A>C

                          13.

                          rs1483837988 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            16:69695195 (GRCh38)
                            16:69729098 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:69695194:A:G
                            Gene:
                            NFAT5 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000016.10:g.69695195A>G, NC_000016.9:g.69729098A>G, NG_029600.1:g.135102A>G, NM_138714.4:c.4192A>G, NM_138714.3:c.4192A>G, NM_138713.4:c.4474A>G, NM_138713.3:c.4474A>G, NM_006599.4:c.4420A>G, NM_006599.3:c.4420A>G, NM_173214.3:c.4192A>G, NM_173214.2:c.4192A>G, NM_001113178.3:c.4471A>G, NM_001113178.2:c.4471A>G, NM_173215.3:c.4192A>G, NM_173215.2:c.4192A>G, NM_001367709.1:c.3799A>G, XM_011522817.4:c.4417A>G, XM_011522817.3:c.4417A>G, XM_011522817.2:c.4417A>G, XM_011522817.1:c.4417A>G, XM_011522820.4:c.3802A>G, XM_011522820.3:c.3802A>G, XM_011522820.2:c.3802A>G, XM_011522820.1:c.3802A>G, XM_011522822.4:c.3802A>G, XM_011522822.3:c.3802A>G, XM_011522822.2:c.3802A>G, XM_011522822.1:c.3802A>G, XM_017022872.3:c.3802A>G, XM_017022872.2:c.3802A>G, XM_017022872.1:c.3802A>G, XM_047433510.1:c.4288A>G, XM_047433513.1:c.4285A>G, XM_047433512.1:c.4192A>G, XM_047433514.1:c.3802A>G, XM_047433515.1:c.3799A>G, XR_007064848.1:n.4853A>G, XM_047433511.1:c.4288A>G, NP_619728.2:p.Ser1398Gly, NP_619727.2:p.Ser1492Gly, NP_006590.1:p.Ser1474Gly, NP_775321.1:p.Ser1398Gly, NP_001106649.1:p.Ser1491Gly, NP_775322.1:p.Ser1398Gly, NP_001354638.1:p.Ser1267Gly, XP_011521119.1:p.Ser1473Gly, XP_011521122.1:p.Ser1268Gly, XP_011521124.1:p.Ser1268Gly, XP_016878361.1:p.Ser1268Gly, XP_047289466.1:p.Ser1430Gly, XP_047289469.1:p.Ser1429Gly, XP_047289468.1:p.Ser1398Gly, XP_047289470.1:p.Ser1268Gly, XP_047289471.1:p.Ser1267Gly, XP_047289467.1:p.Ser1430Gly

                            14.

                            rs1481354524 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:69647257 (GRCh38)
                              16:69681160 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:69647256:C:T
                              Gene:
                              NFAT5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000008/2 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1481124321 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:69691933 (GRCh38)
                                16:69725836 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:69691932:A:G
                                Gene:
                                NFAT5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.69691933A>G, NC_000016.9:g.69725836A>G, NG_029600.1:g.131840A>G, NM_138714.4:c.1826A>G, NM_138714.3:c.1826A>G, NM_138713.4:c.2108A>G, NM_138713.3:c.2108A>G, NM_006599.4:c.2054A>G, NM_006599.3:c.2054A>G, NM_173214.3:c.1826A>G, NM_173214.2:c.1826A>G, NM_001113178.3:c.2105A>G, NM_001113178.2:c.2105A>G, NM_173215.3:c.1826A>G, NM_173215.2:c.1826A>G, NM_001367709.1:c.1433A>G, XM_011522817.4:c.2051A>G, XM_011522817.3:c.2051A>G, XM_011522817.2:c.2051A>G, XM_011522817.1:c.2051A>G, XM_011522820.4:c.1436A>G, XM_011522820.3:c.1436A>G, XM_011522820.2:c.1436A>G, XM_011522820.1:c.1436A>G, XM_011522822.4:c.1436A>G, XM_011522822.3:c.1436A>G, XM_011522822.2:c.1436A>G, XM_011522822.1:c.1436A>G, XM_017022872.3:c.1436A>G, XM_017022872.2:c.1436A>G, XM_017022872.1:c.1436A>G, XM_047433510.1:c.1922A>G, XM_047433513.1:c.1919A>G, XM_047433512.1:c.1826A>G, XM_047433514.1:c.1436A>G, XM_047433515.1:c.1433A>G, XR_007064848.1:n.2444A>G, XM_047433511.1:c.1922A>G, NP_619728.2:p.Gln609Arg, NP_619727.2:p.Gln703Arg, NP_006590.1:p.Gln685Arg, NP_775321.1:p.Gln609Arg, NP_001106649.1:p.Gln702Arg, NP_775322.1:p.Gln609Arg, NP_001354638.1:p.Gln478Arg, XP_011521119.1:p.Gln684Arg, XP_011521122.1:p.Gln479Arg, XP_011521124.1:p.Gln479Arg, XP_016878361.1:p.Gln479Arg, XP_047289466.1:p.Gln641Arg, XP_047289469.1:p.Gln640Arg, XP_047289468.1:p.Gln609Arg, XP_047289470.1:p.Gln479Arg, XP_047289471.1:p.Gln478Arg, XP_047289467.1:p.Gln641Arg

                                16.

                                rs1480795839 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  16:69692404 (GRCh38)
                                  16:69726307 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:69692403:G:T
                                  Gene:
                                  NFAT5 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000016.10:g.69692404G>T, NC_000016.9:g.69726307G>T, NG_029600.1:g.132311G>T, NM_138714.4:c.2297G>T, NM_138714.3:c.2297G>T, NM_138713.4:c.2579G>T, NM_138713.3:c.2579G>T, NM_006599.4:c.2525G>T, NM_006599.3:c.2525G>T, NM_173214.3:c.2297G>T, NM_173214.2:c.2297G>T, NM_001113178.3:c.2576G>T, NM_001113178.2:c.2576G>T, NM_173215.3:c.2297G>T, NM_173215.2:c.2297G>T, NM_001367709.1:c.1904G>T, XM_011522817.4:c.2522G>T, XM_011522817.3:c.2522G>T, XM_011522817.2:c.2522G>T, XM_011522817.1:c.2522G>T, XM_011522820.4:c.1907G>T, XM_011522820.3:c.1907G>T, XM_011522820.2:c.1907G>T, XM_011522820.1:c.1907G>T, XM_011522822.4:c.1907G>T, XM_011522822.3:c.1907G>T, XM_011522822.2:c.1907G>T, XM_011522822.1:c.1907G>T, XM_017022872.3:c.1907G>T, XM_017022872.2:c.1907G>T, XM_017022872.1:c.1907G>T, XM_047433510.1:c.2393G>T, XM_047433513.1:c.2390G>T, XM_047433512.1:c.2297G>T, XM_047433514.1:c.1907G>T, XM_047433515.1:c.1904G>T, XR_007064848.1:n.2915G>T, XM_047433511.1:c.2393G>T, NP_619728.2:p.Ser766Ile, NP_619727.2:p.Ser860Ile, NP_006590.1:p.Ser842Ile, NP_775321.1:p.Ser766Ile, NP_001106649.1:p.Ser859Ile, NP_775322.1:p.Ser766Ile, NP_001354638.1:p.Ser635Ile, XP_011521119.1:p.Ser841Ile, XP_011521122.1:p.Ser636Ile, XP_011521124.1:p.Ser636Ile, XP_016878361.1:p.Ser636Ile, XP_047289466.1:p.Ser798Ile, XP_047289469.1:p.Ser797Ile, XP_047289468.1:p.Ser766Ile, XP_047289470.1:p.Ser636Ile, XP_047289471.1:p.Ser635Ile, XP_047289467.1:p.Ser798Ile

                                  17.

                                  rs1480294084 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    16:69695365 (GRCh38)
                                    16:69729268 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:69695364:C:T
                                    Gene:
                                    NFAT5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_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_000016.10:g.69695365C>T, NC_000016.9:g.69729268C>T, NG_029600.1:g.135272C>T, NM_138714.4:c.4362C>T, NM_138714.3:c.4362C>T, NM_138713.4:c.4644C>T, NM_138713.3:c.4644C>T, NM_006599.4:c.4590C>T, NM_006599.3:c.4590C>T, NM_173214.3:c.4362C>T, NM_173214.2:c.4362C>T, NM_001113178.3:c.4641C>T, NM_001113178.2:c.4641C>T, NM_173215.3:c.4362C>T, NM_173215.2:c.4362C>T, NM_001367709.1:c.3969C>T, XM_011522817.4:c.4587C>T, XM_011522817.3:c.4587C>T, XM_011522817.2:c.4587C>T, XM_011522817.1:c.4587C>T, XM_011522820.4:c.3972C>T, XM_011522820.3:c.3972C>T, XM_011522820.2:c.3972C>T, XM_011522820.1:c.3972C>T, XM_011522822.4:c.3972C>T, XM_011522822.3:c.3972C>T, XM_011522822.2:c.3972C>T, XM_011522822.1:c.3972C>T, XM_017022872.3:c.3972C>T, XM_017022872.2:c.3972C>T, XM_017022872.1:c.3972C>T, XM_047433510.1:c.4458C>T, XM_047433513.1:c.4455C>T, XM_047433512.1:c.4362C>T, XM_047433514.1:c.3972C>T, XM_047433515.1:c.3969C>T, XR_007064848.1:n.5023C>T, XM_047433511.1:c.4458C>T

                                    18.

                                    rs1479687442 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:69659802 (GRCh38)
                                      16:69693705 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:69659801:G:A
                                      Gene:
                                      NFAT5 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000016.10:g.69659802G>A, NC_000016.9:g.69693705G>A, NG_029600.1:g.99709G>A, NM_138714.4:c.990G>A, NM_138714.3:c.990G>A, NM_138713.4:c.1272G>A, NM_138713.3:c.1272G>A, NM_006599.4:c.1218G>A, NM_006599.3:c.1218G>A, NM_173214.3:c.990G>A, NM_173214.2:c.990G>A, NM_001113178.3:c.1272G>A, NM_001113178.2:c.1272G>A, NM_173215.3:c.990G>A, NM_173215.2:c.990G>A, NM_001367709.1:c.600G>A, XM_011522817.4:c.1218G>A, XM_011522817.3:c.1218G>A, XM_011522817.2:c.1218G>A, XM_011522817.1:c.1218G>A, XM_011522820.4:c.600G>A, XM_011522820.3:c.600G>A, XM_011522820.2:c.600G>A, XM_011522820.1:c.600G>A, XM_011522822.4:c.600G>A, XM_011522822.3:c.600G>A, XM_011522822.2:c.600G>A, XM_011522822.1:c.600G>A, XM_017022872.3:c.600G>A, XM_017022872.2:c.600G>A, XM_017022872.1:c.600G>A, XM_047433510.1:c.1086G>A, XM_047433513.1:c.1086G>A, XM_047433512.1:c.990G>A, XM_047433514.1:c.600G>A, XM_047433515.1:c.600G>A, XR_007064848.1:n.1608G>A, XM_047433511.1:c.1086G>A

                                      19.

                                      rs1477289519 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:69692831 (GRCh38)
                                        16:69726734 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:69692830:A:G
                                        Gene:
                                        NFAT5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000016.10:g.69692831A>G, NC_000016.9:g.69726734A>G, NG_029600.1:g.132738A>G, NM_138714.4:c.2724A>G, NM_138714.3:c.2724A>G, NM_138713.4:c.3006A>G, NM_138713.3:c.3006A>G, NM_006599.4:c.2952A>G, NM_006599.3:c.2952A>G, NM_173214.3:c.2724A>G, NM_173214.2:c.2724A>G, NM_001113178.3:c.3003A>G, NM_001113178.2:c.3003A>G, NM_173215.3:c.2724A>G, NM_173215.2:c.2724A>G, NM_001367709.1:c.2331A>G, XM_011522817.4:c.2949A>G, XM_011522817.3:c.2949A>G, XM_011522817.2:c.2949A>G, XM_011522817.1:c.2949A>G, XM_011522820.4:c.2334A>G, XM_011522820.3:c.2334A>G, XM_011522820.2:c.2334A>G, XM_011522820.1:c.2334A>G, XM_011522822.4:c.2334A>G, XM_011522822.3:c.2334A>G, XM_011522822.2:c.2334A>G, XM_011522822.1:c.2334A>G, XM_017022872.3:c.2334A>G, XM_017022872.2:c.2334A>G, XM_017022872.1:c.2334A>G, XM_047433510.1:c.2820A>G, XM_047433513.1:c.2817A>G, XM_047433512.1:c.2724A>G, XM_047433514.1:c.2334A>G, XM_047433515.1:c.2331A>G, XR_007064848.1:n.3342A>G, XM_047433511.1:c.2820A>G

                                        20.

                                        rs1477242152 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          16:69655741 (GRCh38)
                                          16:69689644 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:69655740:A:C,NC_000016.10:69655740:A:G
                                          Gene:
                                          NFAT5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.69655741A>C, NC_000016.10:g.69655741A>G, NC_000016.9:g.69689644A>C, NC_000016.9:g.69689644A>G, NG_029600.1:g.95648A>C, NG_029600.1:g.95648A>G, NM_138714.4:c.856A>C, NM_138714.4:c.856A>G, NM_138714.3:c.856A>C, NM_138714.3:c.856A>G, NM_138713.4:c.1138A>C, NM_138713.4:c.1138A>G, NM_138713.3:c.1138A>C, NM_138713.3:c.1138A>G, NM_006599.4:c.1084A>C, NM_006599.4:c.1084A>G, NM_006599.3:c.1084A>C, NM_006599.3:c.1084A>G, NM_173214.3:c.856A>C, NM_173214.3:c.856A>G, NM_173214.2:c.856A>C, NM_173214.2:c.856A>G, NM_001113178.3:c.1138A>C, NM_001113178.3:c.1138A>G, NM_001113178.2:c.1138A>C, NM_001113178.2:c.1138A>G, NM_173215.3:c.856A>C, NM_173215.3:c.856A>G, NM_173215.2:c.856A>C, NM_173215.2:c.856A>G, NM_001367709.1:c.466A>C, NM_001367709.1:c.466A>G, XM_011522817.4:c.1084A>C, XM_011522817.4:c.1084A>G, XM_011522817.3:c.1084A>C, XM_011522817.3:c.1084A>G, XM_011522817.2:c.1084A>C, XM_011522817.2:c.1084A>G, XM_011522817.1:c.1084A>C, XM_011522817.1:c.1084A>G, XM_011522820.4:c.466A>C, XM_011522820.4:c.466A>G, XM_011522820.3:c.466A>C, XM_011522820.3:c.466A>G, XM_011522820.2:c.466A>C, XM_011522820.2:c.466A>G, XM_011522820.1:c.466A>C, XM_011522820.1:c.466A>G, XM_011522822.4:c.466A>C, XM_011522822.4:c.466A>G, XM_011522822.3:c.466A>C, XM_011522822.3:c.466A>G, XM_011522822.2:c.466A>C, XM_011522822.2:c.466A>G, XM_011522822.1:c.466A>C, XM_011522822.1:c.466A>G, XM_017022872.3:c.466A>C, XM_017022872.3:c.466A>G, XM_017022872.2:c.466A>C, XM_017022872.2:c.466A>G, XM_017022872.1:c.466A>C, XM_017022872.1:c.466A>G, XM_047433510.1:c.952A>C, XM_047433510.1:c.952A>G, XM_047433513.1:c.952A>C, XM_047433513.1:c.952A>G, XM_047433512.1:c.856A>C, XM_047433512.1:c.856A>G, XM_047433514.1:c.466A>C, XM_047433514.1:c.466A>G, XM_047433515.1:c.466A>C, XM_047433515.1:c.466A>G, XR_007064848.1:n.1474A>C, XR_007064848.1:n.1474A>G, XM_047433511.1:c.952A>C, XM_047433511.1:c.952A>G, NP_619728.2:p.Ile286Leu, NP_619728.2:p.Ile286Val, NP_619727.2:p.Ile380Leu, NP_619727.2:p.Ile380Val, NP_006590.1:p.Ile362Leu, NP_006590.1:p.Ile362Val, NP_775321.1:p.Ile286Leu, NP_775321.1:p.Ile286Val, NP_001106649.1:p.Ile380Leu, NP_001106649.1:p.Ile380Val, NP_775322.1:p.Ile286Leu, NP_775322.1:p.Ile286Val, NP_001354638.1:p.Ile156Leu, NP_001354638.1:p.Ile156Val, XP_011521119.1:p.Ile362Leu, XP_011521119.1:p.Ile362Val, XP_011521122.1:p.Ile156Leu, XP_011521122.1:p.Ile156Val, XP_011521124.1:p.Ile156Leu, XP_011521124.1:p.Ile156Val, XP_016878361.1:p.Ile156Leu, XP_016878361.1:p.Ile156Val, XP_047289466.1:p.Ile318Leu, XP_047289466.1:p.Ile318Val, XP_047289469.1:p.Ile318Leu, XP_047289469.1:p.Ile318Val, XP_047289468.1:p.Ile286Leu, XP_047289468.1:p.Ile286Val, XP_047289470.1:p.Ile156Leu, XP_047289470.1:p.Ile156Val, XP_047289471.1:p.Ile156Leu, XP_047289471.1:p.Ile156Val, XP_047289467.1:p.Ile318Leu, XP_047289467.1:p.Ile318Val

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