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Items: 1 to 20 of 1133

1.

rs1490806832 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    19:15424992 (GRCh38)
    19:15535803 (GRCh37)
    Canonical SPDI:
    NC_000019.10:15424991:T:C
    Gene:
    WIZ (Varview)
    Functional Consequence:
    synonymous_variant,coding_sequence_variant
    HGVS:
    NC_000019.10:g.15424992T>C, NC_000019.9:g.15535803T>C, XM_005260005.5:c.4764A>G, XM_005260005.4:c.4764A>G, XM_005260005.3:c.4764A>G, XM_005260005.2:c.4764A>G, XM_005260005.1:c.4764A>G, XM_005260006.5:c.4536A>G, XM_005260006.4:c.4536A>G, XM_005260006.3:c.4536A>G, XM_005260006.2:c.4536A>G, XM_005260006.1:c.4536A>G, XM_005260007.5:c.4365A>G, XM_005260007.4:c.4365A>G, XM_005260007.3:c.4365A>G, XM_005260007.2:c.4365A>G, XM_005260007.1:c.4365A>G, NM_001371603.5:c.2466A>G, NM_001371603.4:c.2172A>G, NM_001371603.3:c.2172A>G, NM_001371603.2:c.2172A>G, NM_001371603.1:c.2172A>G, XM_005260008.4:c.2724A>G, XM_005260008.3:c.2724A>G, XM_005260008.2:c.2724A>G, XM_005260008.1:c.2724A>G, XM_005260011.4:c.2154A>G, XM_005260011.3:c.2154A>G, XM_005260011.2:c.2154A>G, XM_005260011.1:c.2154A>G, XM_005260010.4:c.2172A>G, XM_005260010.3:c.2172A>G, XM_005260010.2:c.2172A>G, XM_005260010.1:c.2172A>G, NM_001330395.4:c.2067A>G, NM_001330395.3:c.1773A>G, NM_001330395.2:c.1773A>G, NM_001330395.1:c.1773A>G, XM_011528163.3:c.2172A>G, XM_011528163.2:c.2172A>G, XM_011528163.1:c.2172A>G, NM_021241.3:c.1650A>G, NM_021241.2:c.1650A>G, XM_047439175.1:c.4935A>G, NM_001371589.1:c.4935A>G, XM_047439176.1:c.4365A>G, NM_001411129.1:c.4365A>G, XM_047439177.1:c.2613A>G, XM_047439179.1:c.2442A>G, XM_047439178.1:c.2553A>G, XM_047439180.1:c.2154A>G, XM_047439181.1:c.2043A>G

    2.

    rs1490550885 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>A [Show Flanks]
      Chromosome:
      19:15427004 (GRCh38)
      19:15537815 (GRCh37)
      Canonical SPDI:
      NC_000019.10:15427003:T:A
      Gene:
      WIZ (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000071/1 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000007/1 (GnomAD)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000019.10:g.15427004T>A, NC_000019.9:g.15537815T>A, XM_005260005.5:c.4173A>T, XM_005260005.4:c.4173A>T, XM_005260005.3:c.4173A>T, XM_005260005.2:c.4173A>T, XM_005260005.1:c.4173A>T, XM_005260006.5:c.3945A>T, XM_005260006.4:c.3945A>T, XM_005260006.3:c.3945A>T, XM_005260006.2:c.3945A>T, XM_005260006.1:c.3945A>T, XM_005260007.5:c.3774A>T, XM_005260007.4:c.3774A>T, XM_005260007.3:c.3774A>T, XM_005260007.2:c.3774A>T, XM_005260007.1:c.3774A>T, NM_001371603.5:c.1875A>T, NM_001371603.4:c.1581A>T, NM_001371603.3:c.1581A>T, NM_001371603.2:c.1581A>T, NM_001371603.1:c.1581A>T, XM_005260008.4:c.2133A>T, XM_005260008.3:c.2133A>T, XM_005260008.2:c.2133A>T, XM_005260008.1:c.2133A>T, XM_005260011.4:c.1563A>T, XM_005260011.3:c.1563A>T, XM_005260011.2:c.1563A>T, XM_005260011.1:c.1563A>T, XM_005260010.4:c.1581A>T, XM_005260010.3:c.1581A>T, XM_005260010.2:c.1581A>T, XM_005260010.1:c.1581A>T, NM_001330395.4:c.1476A>T, NM_001330395.3:c.1182A>T, NM_001330395.2:c.1182A>T, NM_001330395.1:c.1182A>T, XM_011528163.3:c.1581A>T, XM_011528163.2:c.1581A>T, XM_011528163.1:c.1581A>T, NM_021241.3:c.1059A>T, NM_021241.2:c.1059A>T, XM_047439175.1:c.4344A>T, NM_001371589.1:c.4344A>T, XM_047439176.1:c.3774A>T, NM_001411129.1:c.3774A>T, XM_047439177.1:c.2022A>T, XM_047439179.1:c.1851A>T, XM_047439178.1:c.1962A>T, XM_047439180.1:c.1563A>T, XM_047439181.1:c.1452A>T, XP_005260062.1:p.Glu1391Asp, XP_005260063.1:p.Glu1315Asp, XP_005260064.1:p.Glu1258Asp, NP_001358532.2:p.Glu625Asp, XP_005260065.1:p.Glu711Asp, XP_005260068.1:p.Glu521Asp, XP_005260067.1:p.Glu527Asp, NP_001317324.2:p.Glu492Asp, XP_011526465.1:p.Glu527Asp, NP_067064.2:p.Glu353Asp, XP_047295131.1:p.Glu1448Asp, NP_001358518.1:p.Glu1448Asp, XP_047295132.1:p.Glu1258Asp, XP_047295133.1:p.Glu674Asp, XP_047295135.1:p.Glu617Asp, XP_047295134.1:p.Glu654Asp, XP_047295136.1:p.Glu521Asp, XP_047295137.1:p.Glu484Asp

      3.

      rs1490319198 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        19:15448260 (GRCh38)
        19:15559071 (GRCh37)
        Canonical SPDI:
        NC_000019.10:15448259:T:C
        Gene:
        WIZ (Varview), MIR1470 (Varview)
        Functional Consequence:
        2KB_upstream_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_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_000019.10:g.15448260T>C, NC_000019.9:g.15559071T>C, XM_005260005.5:c.48A>G, XM_005260005.4:c.48A>G, XM_005260005.3:c.48A>G, XM_005260005.2:c.48A>G, XM_005260005.1:c.48A>G, XM_005260006.5:c.48A>G, XM_005260006.4:c.48A>G, XM_005260006.3:c.48A>G, XM_005260006.2:c.48A>G, XM_005260006.1:c.48A>G, XM_005260007.5:c.48A>G, XM_005260007.4:c.48A>G, XM_005260007.3:c.48A>G, XM_005260007.2:c.48A>G, XM_005260007.1:c.48A>G, XM_005260008.4:c.48A>G, XM_005260008.3:c.48A>G, XM_005260008.2:c.48A>G, XM_005260008.1:c.48A>G, XM_005260011.4:c.48A>G, XM_005260011.3:c.48A>G, XM_005260011.2:c.48A>G, XM_005260011.1:c.48A>G, NM_021241.3:c.48A>G, NM_021241.2:c.48A>G, XM_047439175.1:c.48A>G, NM_001371589.1:c.48A>G, XM_047439176.1:c.48A>G, NM_001411129.1:c.48A>G, XM_047439177.1:c.-137A>G, XM_047439179.1:c.-137A>G, XM_047439178.1:c.48A>G, XM_047439180.1:c.48A>G, XM_047439181.1:c.-137A>G

        4.

        rs1489714537 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          19:15428259 (GRCh38)
          19:15539070 (GRCh37)
          Canonical SPDI:
          NC_000019.10:15428258:A:T
          Gene:
          WIZ (Varview)
          Functional Consequence:
          missense_variant,intron_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000019.10:g.15428259A>T, NC_000019.9:g.15539070A>T, XM_005260005.5:c.3494T>A, XM_005260005.4:c.3494T>A, XM_005260005.3:c.3494T>A, XM_005260005.2:c.3494T>A, XM_005260005.1:c.3494T>A, NM_001371603.5:c.1196T>A, NM_001371603.4:c.902T>A, NM_001371603.3:c.902T>A, NM_001371603.2:c.902T>A, NM_001371603.1:c.902T>A, XM_005260008.4:c.1454T>A, XM_005260008.3:c.1454T>A, XM_005260008.2:c.1454T>A, XM_005260008.1:c.1454T>A, XM_005260010.4:c.902T>A, XM_005260010.3:c.902T>A, XM_005260010.2:c.902T>A, XM_005260010.1:c.902T>A, XM_011528163.3:c.902T>A, XM_011528163.2:c.902T>A, XM_011528163.1:c.902T>A, XM_047439175.1:c.3665T>A, NM_001371589.1:c.3665T>A, XM_047439177.1:c.1343T>A, XM_047439179.1:c.1172T>A, XM_047439178.1:c.1283T>A, XP_005260062.1:p.Leu1165His, NP_001358532.2:p.Leu399His, XP_005260065.1:p.Leu485His, XP_005260067.1:p.Leu301His, XP_011526465.1:p.Leu301His, XP_047295131.1:p.Leu1222His, NP_001358518.1:p.Leu1222His, XP_047295133.1:p.Leu448His, XP_047295135.1:p.Leu391His, XP_047295134.1:p.Leu428His

          5.

          rs1489337701 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            19:15425635 (GRCh38)
            19:15536446 (GRCh37)
            Canonical SPDI:
            NC_000019.10:15425634:A:G
            Gene:
            WIZ (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.00096/16 (TOMMO)
            HGVS:
            NC_000019.10:g.15425635A>G, NC_000019.9:g.15536446A>G, XM_005260005.5:c.4329T>C, XM_005260005.4:c.4329T>C, XM_005260005.3:c.4329T>C, XM_005260005.2:c.4329T>C, XM_005260005.1:c.4329T>C, XM_005260006.5:c.4101T>C, XM_005260006.4:c.4101T>C, XM_005260006.3:c.4101T>C, XM_005260006.2:c.4101T>C, XM_005260006.1:c.4101T>C, XM_005260007.5:c.3930T>C, XM_005260007.4:c.3930T>C, XM_005260007.3:c.3930T>C, XM_005260007.2:c.3930T>C, XM_005260007.1:c.3930T>C, NM_001371603.5:c.2031T>C, NM_001371603.4:c.1737T>C, NM_001371603.3:c.1737T>C, NM_001371603.2:c.1737T>C, NM_001371603.1:c.1737T>C, XM_005260008.4:c.2289T>C, XM_005260008.3:c.2289T>C, XM_005260008.2:c.2289T>C, XM_005260008.1:c.2289T>C, XM_005260011.4:c.1719T>C, XM_005260011.3:c.1719T>C, XM_005260011.2:c.1719T>C, XM_005260011.1:c.1719T>C, XM_005260010.4:c.1737T>C, XM_005260010.3:c.1737T>C, XM_005260010.2:c.1737T>C, XM_005260010.1:c.1737T>C, NM_001330395.4:c.1632T>C, NM_001330395.3:c.1338T>C, NM_001330395.2:c.1338T>C, NM_001330395.1:c.1338T>C, XM_011528163.3:c.1737T>C, XM_011528163.2:c.1737T>C, XM_011528163.1:c.1737T>C, NM_021241.3:c.1215T>C, NM_021241.2:c.1215T>C, XM_047439175.1:c.4500T>C, NM_001371589.1:c.4500T>C, XM_047439176.1:c.3930T>C, NM_001411129.1:c.3930T>C, XM_047439177.1:c.2178T>C, XM_047439179.1:c.2007T>C, XM_047439178.1:c.2118T>C, XM_047439180.1:c.1719T>C, XM_047439181.1:c.1608T>C

            6.

            rs1489074527 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              19:15425005 (GRCh38)
              19:15535816 (GRCh37)
              Canonical SPDI:
              NC_000019.10:15425004:C:T
              Gene:
              WIZ (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000019.10:g.15425005C>T, NC_000019.9:g.15535816C>T, XM_005260005.5:c.4751G>A, XM_005260005.4:c.4751G>A, XM_005260005.3:c.4751G>A, XM_005260005.2:c.4751G>A, XM_005260005.1:c.4751G>A, XM_005260006.5:c.4523G>A, XM_005260006.4:c.4523G>A, XM_005260006.3:c.4523G>A, XM_005260006.2:c.4523G>A, XM_005260006.1:c.4523G>A, XM_005260007.5:c.4352G>A, XM_005260007.4:c.4352G>A, XM_005260007.3:c.4352G>A, XM_005260007.2:c.4352G>A, XM_005260007.1:c.4352G>A, NM_001371603.5:c.2453G>A, NM_001371603.4:c.2159G>A, NM_001371603.3:c.2159G>A, NM_001371603.2:c.2159G>A, NM_001371603.1:c.2159G>A, XM_005260008.4:c.2711G>A, XM_005260008.3:c.2711G>A, XM_005260008.2:c.2711G>A, XM_005260008.1:c.2711G>A, XM_005260011.4:c.2141G>A, XM_005260011.3:c.2141G>A, XM_005260011.2:c.2141G>A, XM_005260011.1:c.2141G>A, XM_005260010.4:c.2159G>A, XM_005260010.3:c.2159G>A, XM_005260010.2:c.2159G>A, XM_005260010.1:c.2159G>A, NM_001330395.4:c.2054G>A, NM_001330395.3:c.1760G>A, NM_001330395.2:c.1760G>A, NM_001330395.1:c.1760G>A, XM_011528163.3:c.2159G>A, XM_011528163.2:c.2159G>A, XM_011528163.1:c.2159G>A, NM_021241.3:c.1637G>A, NM_021241.2:c.1637G>A, XM_047439175.1:c.4922G>A, NM_001371589.1:c.4922G>A, XM_047439176.1:c.4352G>A, NM_001411129.1:c.4352G>A, XM_047439177.1:c.2600G>A, XM_047439179.1:c.2429G>A, XM_047439178.1:c.2540G>A, XM_047439180.1:c.2141G>A, XM_047439181.1:c.2030G>A, XP_005260062.1:p.Gly1584Asp, XP_005260063.1:p.Gly1508Asp, XP_005260064.1:p.Gly1451Asp, NP_001358532.2:p.Gly818Asp, XP_005260065.1:p.Gly904Asp, XP_005260068.1:p.Gly714Asp, XP_005260067.1:p.Gly720Asp, NP_001317324.2:p.Gly685Asp, XP_011526465.1:p.Gly720Asp, NP_067064.2:p.Gly546Asp, XP_047295131.1:p.Gly1641Asp, NP_001358518.1:p.Gly1641Asp, XP_047295132.1:p.Gly1451Asp, XP_047295133.1:p.Gly867Asp, XP_047295135.1:p.Gly810Asp, XP_047295134.1:p.Gly847Asp, XP_047295136.1:p.Gly714Asp, XP_047295137.1:p.Gly677Asp

              7.

              rs1488477475 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:15429746 (GRCh38)
                19:15540557 (GRCh37)
                Canonical SPDI:
                NC_000019.10:15429745:C:T
                Gene:
                WIZ (Varview)
                Functional Consequence:
                synonymous_variant,intron_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                T=0.000031/3 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.15429746C>T, NC_000019.9:g.15540557C>T, XM_005260005.5:c.3084G>A, XM_005260005.4:c.3084G>A, XM_005260005.3:c.3084G>A, XM_005260005.2:c.3084G>A, XM_005260005.1:c.3084G>A, XM_005260006.5:c.3255G>A, XM_005260006.4:c.3255G>A, XM_005260006.3:c.3255G>A, XM_005260006.2:c.3255G>A, XM_005260006.1:c.3255G>A, XM_005260007.5:c.3084G>A, XM_005260007.4:c.3084G>A, XM_005260007.3:c.3084G>A, XM_005260007.2:c.3084G>A, XM_005260007.1:c.3084G>A, NM_001371603.5:c.786G>A, NM_001371603.4:c.492G>A, NM_001371603.3:c.492G>A, NM_001371603.2:c.492G>A, NM_001371603.1:c.492G>A, XM_005260008.4:c.1044G>A, XM_005260008.3:c.1044G>A, XM_005260008.2:c.1044G>A, XM_005260008.1:c.1044G>A, XM_005260011.4:c.873G>A, XM_005260011.3:c.873G>A, XM_005260011.2:c.873G>A, XM_005260011.1:c.873G>A, XM_005260010.4:c.492G>A, XM_005260010.3:c.492G>A, XM_005260010.2:c.492G>A, XM_005260010.1:c.492G>A, NM_001330395.4:c.786G>A, NM_001330395.3:c.492G>A, NM_001330395.2:c.492G>A, NM_001330395.1:c.492G>A, XM_011528163.3:c.492G>A, XM_011528163.2:c.492G>A, XM_011528163.1:c.492G>A, XM_047439175.1:c.3255G>A, NM_001371589.1:c.3255G>A, XM_047439176.1:c.3084G>A, NM_001411129.1:c.3084G>A, XM_047439177.1:c.933G>A, XM_047439179.1:c.762G>A, XM_047439178.1:c.873G>A, XM_047439180.1:c.873G>A, XM_047439181.1:c.762G>A

                8.

                rs1488426079 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:15436907 (GRCh38)
                  19:15547718 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:15436906:C:T
                  Gene:
                  WIZ (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.15436907C>T, NC_000019.9:g.15547718C>T, XM_005260005.5:c.2639G>A, XM_005260005.4:c.2639G>A, XM_005260005.3:c.2639G>A, XM_005260005.2:c.2639G>A, XM_005260005.1:c.2639G>A, XM_005260006.5:c.2639G>A, XM_005260006.4:c.2639G>A, XM_005260006.3:c.2639G>A, XM_005260006.2:c.2639G>A, XM_005260006.1:c.2639G>A, XM_005260007.5:c.2639G>A, XM_005260007.4:c.2639G>A, XM_005260007.3:c.2639G>A, XM_005260007.2:c.2639G>A, XM_005260007.1:c.2639G>A, XM_005260008.4:c.428G>A, XM_005260008.3:c.428G>A, XM_005260008.2:c.428G>A, XM_005260008.1:c.428G>A, XM_005260011.4:c.428G>A, XM_005260011.3:c.428G>A, XM_005260011.2:c.428G>A, XM_005260011.1:c.428G>A, NM_021241.3:c.428G>A, NM_021241.2:c.428G>A, XM_047439175.1:c.2639G>A, NM_001371589.1:c.2639G>A, XM_047439176.1:c.2639G>A, NM_001411129.1:c.2639G>A, XM_047439177.1:c.317G>A, XM_047439179.1:c.317G>A, XM_047439178.1:c.428G>A, XM_047439180.1:c.428G>A, XM_047439181.1:c.317G>A, XP_005260062.1:p.Gly880Asp, XP_005260063.1:p.Gly880Asp, XP_005260064.1:p.Gly880Asp, XP_005260065.1:p.Gly143Asp, XP_005260068.1:p.Gly143Asp, NP_067064.2:p.Gly143Asp, XP_047295131.1:p.Gly880Asp, NP_001358518.1:p.Gly880Asp, XP_047295132.1:p.Gly880Asp, XP_047295133.1:p.Gly106Asp, XP_047295135.1:p.Gly106Asp, XP_047295134.1:p.Gly143Asp, XP_047295136.1:p.Gly143Asp, XP_047295137.1:p.Gly106Asp

                  9.

                  rs1487768193 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    19:15424760 (GRCh38)
                    19:15535571 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:15424759:G:A
                    Gene:
                    WIZ (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000051/1 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000019.10:g.15424760G>A, NC_000019.9:g.15535571G>A, XM_005260005.5:c.4996C>T, XM_005260005.4:c.4996C>T, XM_005260005.3:c.4996C>T, XM_005260005.2:c.4996C>T, XM_005260005.1:c.4996C>T, XM_005260006.5:c.4768C>T, XM_005260006.4:c.4768C>T, XM_005260006.3:c.4768C>T, XM_005260006.2:c.4768C>T, XM_005260006.1:c.4768C>T, XM_005260007.5:c.4597C>T, XM_005260007.4:c.4597C>T, XM_005260007.3:c.4597C>T, XM_005260007.2:c.4597C>T, XM_005260007.1:c.4597C>T, NM_001371603.5:c.2698C>T, NM_001371603.4:c.2404C>T, NM_001371603.3:c.2404C>T, NM_001371603.2:c.2404C>T, NM_001371603.1:c.2404C>T, XM_005260008.4:c.2956C>T, XM_005260008.3:c.2956C>T, XM_005260008.2:c.2956C>T, XM_005260008.1:c.2956C>T, XM_005260011.4:c.2386C>T, XM_005260011.3:c.2386C>T, XM_005260011.2:c.2386C>T, XM_005260011.1:c.2386C>T, XM_005260010.4:c.2404C>T, XM_005260010.3:c.2404C>T, XM_005260010.2:c.2404C>T, XM_005260010.1:c.2404C>T, NM_001330395.4:c.2299C>T, NM_001330395.3:c.2005C>T, NM_001330395.2:c.2005C>T, NM_001330395.1:c.2005C>T, XM_011528163.3:c.2404C>T, XM_011528163.2:c.2404C>T, XM_011528163.1:c.2404C>T, NM_021241.3:c.1882C>T, NM_021241.2:c.1882C>T, XM_047439175.1:c.5167C>T, NM_001371589.1:c.5167C>T, XM_047439176.1:c.4597C>T, NM_001411129.1:c.4597C>T, XM_047439177.1:c.2845C>T, XM_047439179.1:c.2674C>T, XM_047439178.1:c.2785C>T, XM_047439180.1:c.2386C>T, XM_047439181.1:c.2275C>T, XP_005260062.1:p.Pro1666Ser, XP_005260063.1:p.Pro1590Ser, XP_005260064.1:p.Pro1533Ser, NP_001358532.2:p.Pro900Ser, XP_005260065.1:p.Pro986Ser, XP_005260068.1:p.Pro796Ser, XP_005260067.1:p.Pro802Ser, NP_001317324.2:p.Pro767Ser, XP_011526465.1:p.Pro802Ser, NP_067064.2:p.Pro628Ser, XP_047295131.1:p.Pro1723Ser, NP_001358518.1:p.Pro1723Ser, XP_047295132.1:p.Pro1533Ser, XP_047295133.1:p.Pro949Ser, XP_047295135.1:p.Pro892Ser, XP_047295134.1:p.Pro929Ser, XP_047295136.1:p.Pro796Ser, XP_047295137.1:p.Pro759Ser

                    10.

                    rs1487473776 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:15436986 (GRCh38)
                      19:15547797 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:15436985:G:A
                      Gene:
                      WIZ (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.15436986G>A, NC_000019.9:g.15547797G>A, XM_005260005.5:c.2560C>T, XM_005260005.4:c.2560C>T, XM_005260005.3:c.2560C>T, XM_005260005.2:c.2560C>T, XM_005260005.1:c.2560C>T, XM_005260006.5:c.2560C>T, XM_005260006.4:c.2560C>T, XM_005260006.3:c.2560C>T, XM_005260006.2:c.2560C>T, XM_005260006.1:c.2560C>T, XM_005260007.5:c.2560C>T, XM_005260007.4:c.2560C>T, XM_005260007.3:c.2560C>T, XM_005260007.2:c.2560C>T, XM_005260007.1:c.2560C>T, XM_005260008.4:c.349C>T, XM_005260008.3:c.349C>T, XM_005260008.2:c.349C>T, XM_005260008.1:c.349C>T, XM_005260011.4:c.349C>T, XM_005260011.3:c.349C>T, XM_005260011.2:c.349C>T, XM_005260011.1:c.349C>T, NM_021241.3:c.349C>T, NM_021241.2:c.349C>T, XM_047439175.1:c.2560C>T, NM_001371589.1:c.2560C>T, XM_047439176.1:c.2560C>T, NM_001411129.1:c.2560C>T, XM_047439177.1:c.238C>T, XM_047439179.1:c.238C>T, XM_047439178.1:c.349C>T, XM_047439180.1:c.349C>T, XM_047439181.1:c.238C>T, XP_005260062.1:p.Pro854Ser, XP_005260063.1:p.Pro854Ser, XP_005260064.1:p.Pro854Ser, XP_005260065.1:p.Pro117Ser, XP_005260068.1:p.Pro117Ser, NP_067064.2:p.Pro117Ser, XP_047295131.1:p.Pro854Ser, NP_001358518.1:p.Pro854Ser, XP_047295132.1:p.Pro854Ser, XP_047295133.1:p.Pro80Ser, XP_047295135.1:p.Pro80Ser, XP_047295134.1:p.Pro117Ser, XP_047295136.1:p.Pro117Ser, XP_047295137.1:p.Pro80Ser

                      11.

                      rs1487042471 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        19:15430068 (GRCh38)
                        19:15540879 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:15430067:T:C
                        Gene:
                        WIZ (Varview)
                        Functional Consequence:
                        missense_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000019.10:g.15430068T>C, NC_000019.9:g.15540879T>C, XM_005260005.5:c.2762A>G, XM_005260005.4:c.2762A>G, XM_005260005.3:c.2762A>G, XM_005260005.2:c.2762A>G, XM_005260005.1:c.2762A>G, XM_005260006.5:c.2933A>G, XM_005260006.4:c.2933A>G, XM_005260006.3:c.2933A>G, XM_005260006.2:c.2933A>G, XM_005260006.1:c.2933A>G, XM_005260007.5:c.2762A>G, XM_005260007.4:c.2762A>G, XM_005260007.3:c.2762A>G, XM_005260007.2:c.2762A>G, XM_005260007.1:c.2762A>G, NM_001371603.5:c.464A>G, NM_001371603.4:c.170A>G, NM_001371603.3:c.170A>G, NM_001371603.2:c.170A>G, NM_001371603.1:c.170A>G, XM_005260008.4:c.722A>G, XM_005260008.3:c.722A>G, XM_005260008.2:c.722A>G, XM_005260008.1:c.722A>G, XM_005260011.4:c.551A>G, XM_005260011.3:c.551A>G, XM_005260011.2:c.551A>G, XM_005260011.1:c.551A>G, XM_005260010.4:c.170A>G, XM_005260010.3:c.170A>G, XM_005260010.2:c.170A>G, XM_005260010.1:c.170A>G, NM_001330395.4:c.464A>G, NM_001330395.3:c.170A>G, NM_001330395.2:c.170A>G, NM_001330395.1:c.170A>G, XM_011528163.3:c.170A>G, XM_011528163.2:c.170A>G, XM_011528163.1:c.170A>G, XM_047439175.1:c.2933A>G, NM_001371589.1:c.2933A>G, XM_047439176.1:c.2762A>G, NM_001411129.1:c.2762A>G, XM_047439177.1:c.611A>G, XM_047439179.1:c.440A>G, XM_047439178.1:c.551A>G, XM_047439180.1:c.551A>G, XM_047439181.1:c.440A>G, XP_005260062.1:p.Glu921Gly, XP_005260063.1:p.Glu978Gly, XP_005260064.1:p.Glu921Gly, NP_001358532.2:p.Glu155Gly, XP_005260065.1:p.Glu241Gly, XP_005260068.1:p.Glu184Gly, XP_005260067.1:p.Glu57Gly, NP_001317324.2:p.Glu155Gly, XP_011526465.1:p.Glu57Gly, XP_047295131.1:p.Glu978Gly, NP_001358518.1:p.Glu978Gly, XP_047295132.1:p.Glu921Gly, XP_047295133.1:p.Glu204Gly, XP_047295135.1:p.Glu147Gly, XP_047295134.1:p.Glu184Gly, XP_047295136.1:p.Glu184Gly, XP_047295137.1:p.Glu147Gly

                        12.

                        rs1485888695 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          19:15428461 (GRCh38)
                          19:15539272 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:15428460:C:A
                          Gene:
                          WIZ (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000016/2 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.15428461C>A, NC_000019.9:g.15539272C>A, XM_005260005.5:c.3292G>T, XM_005260005.4:c.3292G>T, XM_005260005.3:c.3292G>T, XM_005260005.2:c.3292G>T, XM_005260005.1:c.3292G>T, NM_001371603.5:c.994G>T, NM_001371603.4:c.700G>T, NM_001371603.3:c.700G>T, NM_001371603.2:c.700G>T, NM_001371603.1:c.700G>T, XM_005260008.4:c.1252G>T, XM_005260008.3:c.1252G>T, XM_005260008.2:c.1252G>T, XM_005260008.1:c.1252G>T, XM_005260010.4:c.700G>T, XM_005260010.3:c.700G>T, XM_005260010.2:c.700G>T, XM_005260010.1:c.700G>T, XM_011528163.3:c.700G>T, XM_011528163.2:c.700G>T, XM_011528163.1:c.700G>T, XM_047439175.1:c.3463G>T, NM_001371589.1:c.3463G>T, XM_047439177.1:c.1141G>T, XM_047439179.1:c.970G>T, XM_047439178.1:c.1081G>T, XP_005260062.1:p.Ala1098Ser, NP_001358532.2:p.Ala332Ser, XP_005260065.1:p.Ala418Ser, XP_005260067.1:p.Ala234Ser, XP_011526465.1:p.Ala234Ser, XP_047295131.1:p.Ala1155Ser, NP_001358518.1:p.Ala1155Ser, XP_047295133.1:p.Ala381Ser, XP_047295135.1:p.Ala324Ser, XP_047295134.1:p.Ala361Ser

                          13.

                          rs1485565872 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:15427090 (GRCh38)
                            19:15537901 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:15427089:G:A
                            Gene:
                            WIZ (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000019.10:g.15427090G>A, NC_000019.9:g.15537901G>A, XM_005260005.5:c.4087C>T, XM_005260005.4:c.4087C>T, XM_005260005.3:c.4087C>T, XM_005260005.2:c.4087C>T, XM_005260005.1:c.4087C>T, XM_005260006.5:c.3859C>T, XM_005260006.4:c.3859C>T, XM_005260006.3:c.3859C>T, XM_005260006.2:c.3859C>T, XM_005260006.1:c.3859C>T, XM_005260007.5:c.3688C>T, XM_005260007.4:c.3688C>T, XM_005260007.3:c.3688C>T, XM_005260007.2:c.3688C>T, XM_005260007.1:c.3688C>T, NM_001371603.5:c.1789C>T, NM_001371603.4:c.1495C>T, NM_001371603.3:c.1495C>T, NM_001371603.2:c.1495C>T, NM_001371603.1:c.1495C>T, XM_005260008.4:c.2047C>T, XM_005260008.3:c.2047C>T, XM_005260008.2:c.2047C>T, XM_005260008.1:c.2047C>T, XM_005260011.4:c.1477C>T, XM_005260011.3:c.1477C>T, XM_005260011.2:c.1477C>T, XM_005260011.1:c.1477C>T, XM_005260010.4:c.1495C>T, XM_005260010.3:c.1495C>T, XM_005260010.2:c.1495C>T, XM_005260010.1:c.1495C>T, NM_001330395.4:c.1390C>T, NM_001330395.3:c.1096C>T, NM_001330395.2:c.1096C>T, NM_001330395.1:c.1096C>T, XM_011528163.3:c.1495C>T, XM_011528163.2:c.1495C>T, XM_011528163.1:c.1495C>T, NM_021241.3:c.973C>T, NM_021241.2:c.973C>T, XM_047439175.1:c.4258C>T, NM_001371589.1:c.4258C>T, XM_047439176.1:c.3688C>T, NM_001411129.1:c.3688C>T, XM_047439177.1:c.1936C>T, XM_047439179.1:c.1765C>T, XM_047439178.1:c.1876C>T, XM_047439180.1:c.1477C>T, XM_047439181.1:c.1366C>T, XP_005260062.1:p.Arg1363Trp, XP_005260063.1:p.Arg1287Trp, XP_005260064.1:p.Arg1230Trp, NP_001358532.2:p.Arg597Trp, XP_005260065.1:p.Arg683Trp, XP_005260068.1:p.Arg493Trp, XP_005260067.1:p.Arg499Trp, NP_001317324.2:p.Arg464Trp, XP_011526465.1:p.Arg499Trp, NP_067064.2:p.Arg325Trp, XP_047295131.1:p.Arg1420Trp, NP_001358518.1:p.Arg1420Trp, XP_047295132.1:p.Arg1230Trp, XP_047295133.1:p.Arg646Trp, XP_047295135.1:p.Arg589Trp, XP_047295134.1:p.Arg626Trp, XP_047295136.1:p.Arg493Trp, XP_047295137.1:p.Arg456Trp

                            14.

                            rs1485107974 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C [Show Flanks]
                              Chromosome:
                              19:15429807 (GRCh38)
                              19:15540618 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:15429806:G:A,NC_000019.10:15429806:G:C
                              Gene:
                              WIZ (Varview)
                              Functional Consequence:
                              missense_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000019.10:g.15429807G>A, NC_000019.10:g.15429807G>C, NC_000019.9:g.15540618G>A, NC_000019.9:g.15540618G>C, XM_005260005.5:c.3023C>T, XM_005260005.5:c.3023C>G, XM_005260005.4:c.3023C>T, XM_005260005.4:c.3023C>G, XM_005260005.3:c.3023C>T, XM_005260005.3:c.3023C>G, XM_005260005.2:c.3023C>T, XM_005260005.2:c.3023C>G, XM_005260005.1:c.3023C>T, XM_005260005.1:c.3023C>G, XM_005260006.5:c.3194C>T, XM_005260006.5:c.3194C>G, XM_005260006.4:c.3194C>T, XM_005260006.4:c.3194C>G, XM_005260006.3:c.3194C>T, XM_005260006.3:c.3194C>G, XM_005260006.2:c.3194C>T, XM_005260006.2:c.3194C>G, XM_005260006.1:c.3194C>T, XM_005260006.1:c.3194C>G, XM_005260007.5:c.3023C>T, XM_005260007.5:c.3023C>G, XM_005260007.4:c.3023C>T, XM_005260007.4:c.3023C>G, XM_005260007.3:c.3023C>T, XM_005260007.3:c.3023C>G, XM_005260007.2:c.3023C>T, XM_005260007.2:c.3023C>G, XM_005260007.1:c.3023C>T, XM_005260007.1:c.3023C>G, NM_001371603.5:c.725C>T, NM_001371603.5:c.725C>G, NM_001371603.4:c.431C>T, NM_001371603.4:c.431C>G, NM_001371603.3:c.431C>T, NM_001371603.3:c.431C>G, NM_001371603.2:c.431C>T, NM_001371603.2:c.431C>G, NM_001371603.1:c.431C>T, NM_001371603.1:c.431C>G, XM_005260008.4:c.983C>T, XM_005260008.4:c.983C>G, XM_005260008.3:c.983C>T, XM_005260008.3:c.983C>G, XM_005260008.2:c.983C>T, XM_005260008.2:c.983C>G, XM_005260008.1:c.983C>T, XM_005260008.1:c.983C>G, XM_005260011.4:c.812C>T, XM_005260011.4:c.812C>G, XM_005260011.3:c.812C>T, XM_005260011.3:c.812C>G, XM_005260011.2:c.812C>T, XM_005260011.2:c.812C>G, XM_005260011.1:c.812C>T, XM_005260011.1:c.812C>G, XM_005260010.4:c.431C>T, XM_005260010.4:c.431C>G, XM_005260010.3:c.431C>T, XM_005260010.3:c.431C>G, XM_005260010.2:c.431C>T, XM_005260010.2:c.431C>G, XM_005260010.1:c.431C>T, XM_005260010.1:c.431C>G, NM_001330395.4:c.725C>T, NM_001330395.4:c.725C>G, NM_001330395.3:c.431C>T, NM_001330395.3:c.431C>G, NM_001330395.2:c.431C>T, NM_001330395.2:c.431C>G, NM_001330395.1:c.431C>T, NM_001330395.1:c.431C>G, XM_011528163.3:c.431C>T, XM_011528163.3:c.431C>G, XM_011528163.2:c.431C>T, XM_011528163.2:c.431C>G, XM_011528163.1:c.431C>T, XM_011528163.1:c.431C>G, XM_047439175.1:c.3194C>T, XM_047439175.1:c.3194C>G, NM_001371589.1:c.3194C>T, NM_001371589.1:c.3194C>G, XM_047439176.1:c.3023C>T, XM_047439176.1:c.3023C>G, NM_001411129.1:c.3023C>T, NM_001411129.1:c.3023C>G, XM_047439177.1:c.872C>T, XM_047439177.1:c.872C>G, XM_047439179.1:c.701C>T, XM_047439179.1:c.701C>G, XM_047439178.1:c.812C>T, XM_047439178.1:c.812C>G, XM_047439180.1:c.812C>T, XM_047439180.1:c.812C>G, XM_047439181.1:c.701C>T, XM_047439181.1:c.701C>G, XP_005260062.1:p.Pro1008Leu, XP_005260062.1:p.Pro1008Arg, XP_005260063.1:p.Pro1065Leu, XP_005260063.1:p.Pro1065Arg, XP_005260064.1:p.Pro1008Leu, XP_005260064.1:p.Pro1008Arg, NP_001358532.2:p.Pro242Leu, NP_001358532.2:p.Pro242Arg, XP_005260065.1:p.Pro328Leu, XP_005260065.1:p.Pro328Arg, XP_005260068.1:p.Pro271Leu, XP_005260068.1:p.Pro271Arg, XP_005260067.1:p.Pro144Leu, XP_005260067.1:p.Pro144Arg, NP_001317324.2:p.Pro242Leu, NP_001317324.2:p.Pro242Arg, XP_011526465.1:p.Pro144Leu, XP_011526465.1:p.Pro144Arg, XP_047295131.1:p.Pro1065Leu, XP_047295131.1:p.Pro1065Arg, NP_001358518.1:p.Pro1065Leu, NP_001358518.1:p.Pro1065Arg, XP_047295132.1:p.Pro1008Leu, XP_047295132.1:p.Pro1008Arg, XP_047295133.1:p.Pro291Leu, XP_047295133.1:p.Pro291Arg, XP_047295135.1:p.Pro234Leu, XP_047295135.1:p.Pro234Arg, XP_047295134.1:p.Pro271Leu, XP_047295134.1:p.Pro271Arg, XP_047295136.1:p.Pro271Leu, XP_047295136.1:p.Pro271Arg, XP_047295137.1:p.Pro234Leu, XP_047295137.1:p.Pro234Arg

                              15.

                              rs1484300110 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                19:15424713 (GRCh38)
                                19:15535524 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:15424712:C:A
                                Gene:
                                WIZ (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000023/6 (TOPMED)
                                HGVS:
                                NC_000019.10:g.15424713C>A, NC_000019.9:g.15535524C>A, XM_005260005.5:c.5043G>T, XM_005260005.4:c.5043G>T, XM_005260005.3:c.5043G>T, XM_005260005.2:c.5043G>T, XM_005260005.1:c.5043G>T, XM_005260006.5:c.4815G>T, XM_005260006.4:c.4815G>T, XM_005260006.3:c.4815G>T, XM_005260006.2:c.4815G>T, XM_005260006.1:c.4815G>T, XM_005260007.5:c.4644G>T, XM_005260007.4:c.4644G>T, XM_005260007.3:c.4644G>T, XM_005260007.2:c.4644G>T, XM_005260007.1:c.4644G>T, NM_001371603.5:c.2745G>T, NM_001371603.4:c.2451G>T, NM_001371603.3:c.2451G>T, NM_001371603.2:c.2451G>T, NM_001371603.1:c.2451G>T, XM_005260008.4:c.3003G>T, XM_005260008.3:c.3003G>T, XM_005260008.2:c.3003G>T, XM_005260008.1:c.3003G>T, XM_005260011.4:c.2433G>T, XM_005260011.3:c.2433G>T, XM_005260011.2:c.2433G>T, XM_005260011.1:c.2433G>T, XM_005260010.4:c.2451G>T, XM_005260010.3:c.2451G>T, XM_005260010.2:c.2451G>T, XM_005260010.1:c.2451G>T, NM_001330395.4:c.2346G>T, NM_001330395.3:c.2052G>T, NM_001330395.2:c.2052G>T, NM_001330395.1:c.2052G>T, XM_011528163.3:c.2451G>T, XM_011528163.2:c.2451G>T, XM_011528163.1:c.2451G>T, NM_021241.3:c.1929G>T, NM_021241.2:c.1929G>T, XM_047439175.1:c.5214G>T, NM_001371589.1:c.5214G>T, XM_047439176.1:c.4644G>T, NM_001411129.1:c.4644G>T, XM_047439177.1:c.2892G>T, XM_047439179.1:c.2721G>T, XM_047439178.1:c.2832G>T, XM_047439180.1:c.2433G>T, XM_047439181.1:c.2322G>T

                                16.

                                rs1483748626 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  19:15425301 (GRCh38)
                                  19:15536112 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:15425300:A:G
                                  Gene:
                                  WIZ (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000019.10:g.15425301A>G, NC_000019.9:g.15536112A>G, XM_005260005.5:c.4663T>C, XM_005260005.4:c.4663T>C, XM_005260005.3:c.4663T>C, XM_005260005.2:c.4663T>C, XM_005260005.1:c.4663T>C, XM_005260006.5:c.4435T>C, XM_005260006.4:c.4435T>C, XM_005260006.3:c.4435T>C, XM_005260006.2:c.4435T>C, XM_005260006.1:c.4435T>C, XM_005260007.5:c.4264T>C, XM_005260007.4:c.4264T>C, XM_005260007.3:c.4264T>C, XM_005260007.2:c.4264T>C, XM_005260007.1:c.4264T>C, NM_001371603.5:c.2365T>C, NM_001371603.4:c.2071T>C, NM_001371603.3:c.2071T>C, NM_001371603.2:c.2071T>C, NM_001371603.1:c.2071T>C, XM_005260008.4:c.2623T>C, XM_005260008.3:c.2623T>C, XM_005260008.2:c.2623T>C, XM_005260008.1:c.2623T>C, XM_005260011.4:c.2053T>C, XM_005260011.3:c.2053T>C, XM_005260011.2:c.2053T>C, XM_005260011.1:c.2053T>C, XM_005260010.4:c.2071T>C, XM_005260010.3:c.2071T>C, XM_005260010.2:c.2071T>C, XM_005260010.1:c.2071T>C, NM_001330395.4:c.1966T>C, NM_001330395.3:c.1672T>C, NM_001330395.2:c.1672T>C, NM_001330395.1:c.1672T>C, XM_011528163.3:c.2071T>C, XM_011528163.2:c.2071T>C, XM_011528163.1:c.2071T>C, NM_021241.3:c.1549T>C, NM_021241.2:c.1549T>C, XM_047439175.1:c.4834T>C, NM_001371589.1:c.4834T>C, XM_047439176.1:c.4264T>C, NM_001411129.1:c.4264T>C, XM_047439177.1:c.2512T>C, XM_047439179.1:c.2341T>C, XM_047439178.1:c.2452T>C, XM_047439180.1:c.2053T>C, XM_047439181.1:c.1942T>C, XP_005260062.1:p.Tyr1555His, XP_005260063.1:p.Tyr1479His, XP_005260064.1:p.Tyr1422His, NP_001358532.2:p.Tyr789His, XP_005260065.1:p.Tyr875His, XP_005260068.1:p.Tyr685His, XP_005260067.1:p.Tyr691His, NP_001317324.2:p.Tyr656His, XP_011526465.1:p.Tyr691His, NP_067064.2:p.Tyr517His, XP_047295131.1:p.Tyr1612His, NP_001358518.1:p.Tyr1612His, XP_047295132.1:p.Tyr1422His, XP_047295133.1:p.Tyr838His, XP_047295135.1:p.Tyr781His, XP_047295134.1:p.Tyr818His, XP_047295136.1:p.Tyr685His, XP_047295137.1:p.Tyr648His

                                  17.

                                  rs1483612136 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    19:15427285 (GRCh38)
                                    19:15538096 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:15427284:C:G,NC_000019.10:15427284:C:T
                                    Gene:
                                    WIZ (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000085/3 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    T=0.000071/1 (TOMMO)
                                    HGVS:
                                    NC_000019.10:g.15427285C>G, NC_000019.10:g.15427285C>T, NC_000019.9:g.15538096C>G, NC_000019.9:g.15538096C>T, XM_005260005.5:c.3892G>C, XM_005260005.5:c.3892G>A, XM_005260005.4:c.3892G>C, XM_005260005.4:c.3892G>A, XM_005260005.3:c.3892G>C, XM_005260005.3:c.3892G>A, XM_005260005.2:c.3892G>C, XM_005260005.2:c.3892G>A, XM_005260005.1:c.3892G>C, XM_005260005.1:c.3892G>A, XM_005260006.5:c.3664G>C, XM_005260006.5:c.3664G>A, XM_005260006.4:c.3664G>C, XM_005260006.4:c.3664G>A, XM_005260006.3:c.3664G>C, XM_005260006.3:c.3664G>A, XM_005260006.2:c.3664G>C, XM_005260006.2:c.3664G>A, XM_005260006.1:c.3664G>C, XM_005260006.1:c.3664G>A, XM_005260007.5:c.3493G>C, XM_005260007.5:c.3493G>A, XM_005260007.4:c.3493G>C, XM_005260007.4:c.3493G>A, XM_005260007.3:c.3493G>C, XM_005260007.3:c.3493G>A, XM_005260007.2:c.3493G>C, XM_005260007.2:c.3493G>A, XM_005260007.1:c.3493G>C, XM_005260007.1:c.3493G>A, NM_001371603.5:c.1594G>C, NM_001371603.5:c.1594G>A, NM_001371603.4:c.1300G>C, NM_001371603.4:c.1300G>A, NM_001371603.3:c.1300G>C, NM_001371603.3:c.1300G>A, NM_001371603.2:c.1300G>C, NM_001371603.2:c.1300G>A, NM_001371603.1:c.1300G>C, NM_001371603.1:c.1300G>A, XM_005260008.4:c.1852G>C, XM_005260008.4:c.1852G>A, XM_005260008.3:c.1852G>C, XM_005260008.3:c.1852G>A, XM_005260008.2:c.1852G>C, XM_005260008.2:c.1852G>A, XM_005260008.1:c.1852G>C, XM_005260008.1:c.1852G>A, XM_005260011.4:c.1282G>C, XM_005260011.4:c.1282G>A, XM_005260011.3:c.1282G>C, XM_005260011.3:c.1282G>A, XM_005260011.2:c.1282G>C, XM_005260011.2:c.1282G>A, XM_005260011.1:c.1282G>C, XM_005260011.1:c.1282G>A, XM_005260010.4:c.1300G>C, XM_005260010.4:c.1300G>A, XM_005260010.3:c.1300G>C, XM_005260010.3:c.1300G>A, XM_005260010.2:c.1300G>C, XM_005260010.2:c.1300G>A, XM_005260010.1:c.1300G>C, XM_005260010.1:c.1300G>A, NM_001330395.4:c.1195G>C, NM_001330395.4:c.1195G>A, NM_001330395.3:c.901G>C, NM_001330395.3:c.901G>A, NM_001330395.2:c.901G>C, NM_001330395.2:c.901G>A, NM_001330395.1:c.901G>C, NM_001330395.1:c.901G>A, XM_011528163.3:c.1300G>C, XM_011528163.3:c.1300G>A, XM_011528163.2:c.1300G>C, XM_011528163.2:c.1300G>A, XM_011528163.1:c.1300G>C, XM_011528163.1:c.1300G>A, NM_021241.3:c.778G>C, NM_021241.3:c.778G>A, NM_021241.2:c.778G>C, NM_021241.2:c.778G>A, XM_047439175.1:c.4063G>C, XM_047439175.1:c.4063G>A, NM_001371589.1:c.4063G>C, NM_001371589.1:c.4063G>A, XM_047439176.1:c.3493G>C, XM_047439176.1:c.3493G>A, NM_001411129.1:c.3493G>C, NM_001411129.1:c.3493G>A, XM_047439177.1:c.1741G>C, XM_047439177.1:c.1741G>A, XM_047439179.1:c.1570G>C, XM_047439179.1:c.1570G>A, XM_047439178.1:c.1681G>C, XM_047439178.1:c.1681G>A, XM_047439180.1:c.1282G>C, XM_047439180.1:c.1282G>A, XM_047439181.1:c.1171G>C, XM_047439181.1:c.1171G>A, XP_005260062.1:p.Ala1298Pro, XP_005260062.1:p.Ala1298Thr, XP_005260063.1:p.Ala1222Pro, XP_005260063.1:p.Ala1222Thr, XP_005260064.1:p.Ala1165Pro, XP_005260064.1:p.Ala1165Thr, NP_001358532.2:p.Ala532Pro, NP_001358532.2:p.Ala532Thr, XP_005260065.1:p.Ala618Pro, XP_005260065.1:p.Ala618Thr, XP_005260068.1:p.Ala428Pro, XP_005260068.1:p.Ala428Thr, XP_005260067.1:p.Ala434Pro, XP_005260067.1:p.Ala434Thr, NP_001317324.2:p.Ala399Pro, NP_001317324.2:p.Ala399Thr, XP_011526465.1:p.Ala434Pro, XP_011526465.1:p.Ala434Thr, NP_067064.2:p.Ala260Pro, NP_067064.2:p.Ala260Thr, XP_047295131.1:p.Ala1355Pro, XP_047295131.1:p.Ala1355Thr, NP_001358518.1:p.Ala1355Pro, NP_001358518.1:p.Ala1355Thr, XP_047295132.1:p.Ala1165Pro, XP_047295132.1:p.Ala1165Thr, XP_047295133.1:p.Ala581Pro, XP_047295133.1:p.Ala581Thr, XP_047295135.1:p.Ala524Pro, XP_047295135.1:p.Ala524Thr, XP_047295134.1:p.Ala561Pro, XP_047295134.1:p.Ala561Thr, XP_047295136.1:p.Ala428Pro, XP_047295136.1:p.Ala428Thr, XP_047295137.1:p.Ala391Pro, XP_047295137.1:p.Ala391Thr

                                    18.

                                    rs1482989270 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:15425351 (GRCh38)
                                      19:15536162 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:15425350:C:T
                                      Gene:
                                      WIZ (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000007/1 (GnomAD)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000019.10:g.15425351C>T, NC_000019.9:g.15536162C>T, XM_005260005.5:c.4613G>A, XM_005260005.4:c.4613G>A, XM_005260005.3:c.4613G>A, XM_005260005.2:c.4613G>A, XM_005260005.1:c.4613G>A, XM_005260006.5:c.4385G>A, XM_005260006.4:c.4385G>A, XM_005260006.3:c.4385G>A, XM_005260006.2:c.4385G>A, XM_005260006.1:c.4385G>A, XM_005260007.5:c.4214G>A, XM_005260007.4:c.4214G>A, XM_005260007.3:c.4214G>A, XM_005260007.2:c.4214G>A, XM_005260007.1:c.4214G>A, NM_001371603.5:c.2315G>A, NM_001371603.4:c.2021G>A, NM_001371603.3:c.2021G>A, NM_001371603.2:c.2021G>A, NM_001371603.1:c.2021G>A, XM_005260008.4:c.2573G>A, XM_005260008.3:c.2573G>A, XM_005260008.2:c.2573G>A, XM_005260008.1:c.2573G>A, XM_005260011.4:c.2003G>A, XM_005260011.3:c.2003G>A, XM_005260011.2:c.2003G>A, XM_005260011.1:c.2003G>A, XM_005260010.4:c.2021G>A, XM_005260010.3:c.2021G>A, XM_005260010.2:c.2021G>A, XM_005260010.1:c.2021G>A, NM_001330395.4:c.1916G>A, NM_001330395.3:c.1622G>A, NM_001330395.2:c.1622G>A, NM_001330395.1:c.1622G>A, XM_011528163.3:c.2021G>A, XM_011528163.2:c.2021G>A, XM_011528163.1:c.2021G>A, NM_021241.3:c.1499G>A, NM_021241.2:c.1499G>A, XM_047439175.1:c.4784G>A, NM_001371589.1:c.4784G>A, XM_047439176.1:c.4214G>A, NM_001411129.1:c.4214G>A, XM_047439177.1:c.2462G>A, XM_047439179.1:c.2291G>A, XM_047439178.1:c.2402G>A, XM_047439180.1:c.2003G>A, XM_047439181.1:c.1892G>A, XP_005260062.1:p.Arg1538Gln, XP_005260063.1:p.Arg1462Gln, XP_005260064.1:p.Arg1405Gln, NP_001358532.2:p.Arg772Gln, XP_005260065.1:p.Arg858Gln, XP_005260068.1:p.Arg668Gln, XP_005260067.1:p.Arg674Gln, NP_001317324.2:p.Arg639Gln, XP_011526465.1:p.Arg674Gln, NP_067064.2:p.Arg500Gln, XP_047295131.1:p.Arg1595Gln, NP_001358518.1:p.Arg1595Gln, XP_047295132.1:p.Arg1405Gln, XP_047295133.1:p.Arg821Gln, XP_047295135.1:p.Arg764Gln, XP_047295134.1:p.Arg801Gln, XP_047295136.1:p.Arg668Gln, XP_047295137.1:p.Arg631Gln

                                      19.

                                      rs1482975669 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        19:15424867 (GRCh38)
                                        19:15535678 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:15424866:A:G
                                        Gene:
                                        WIZ (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.15424867A>G, NC_000019.9:g.15535678A>G, XM_005260005.5:c.4889T>C, XM_005260005.4:c.4889T>C, XM_005260005.3:c.4889T>C, XM_005260005.2:c.4889T>C, XM_005260005.1:c.4889T>C, XM_005260006.5:c.4661T>C, XM_005260006.4:c.4661T>C, XM_005260006.3:c.4661T>C, XM_005260006.2:c.4661T>C, XM_005260006.1:c.4661T>C, XM_005260007.5:c.4490T>C, XM_005260007.4:c.4490T>C, XM_005260007.3:c.4490T>C, XM_005260007.2:c.4490T>C, XM_005260007.1:c.4490T>C, NM_001371603.5:c.2591T>C, NM_001371603.4:c.2297T>C, NM_001371603.3:c.2297T>C, NM_001371603.2:c.2297T>C, NM_001371603.1:c.2297T>C, XM_005260008.4:c.2849T>C, XM_005260008.3:c.2849T>C, XM_005260008.2:c.2849T>C, XM_005260008.1:c.2849T>C, XM_005260011.4:c.2279T>C, XM_005260011.3:c.2279T>C, XM_005260011.2:c.2279T>C, XM_005260011.1:c.2279T>C, XM_005260010.4:c.2297T>C, XM_005260010.3:c.2297T>C, XM_005260010.2:c.2297T>C, XM_005260010.1:c.2297T>C, NM_001330395.4:c.2192T>C, NM_001330395.3:c.1898T>C, NM_001330395.2:c.1898T>C, NM_001330395.1:c.1898T>C, XM_011528163.3:c.2297T>C, XM_011528163.2:c.2297T>C, XM_011528163.1:c.2297T>C, NM_021241.3:c.1775T>C, NM_021241.2:c.1775T>C, XM_047439175.1:c.5060T>C, NM_001371589.1:c.5060T>C, XM_047439176.1:c.4490T>C, NM_001411129.1:c.4490T>C, XM_047439177.1:c.2738T>C, XM_047439179.1:c.2567T>C, XM_047439178.1:c.2678T>C, XM_047439180.1:c.2279T>C, XM_047439181.1:c.2168T>C, XP_005260062.1:p.Val1630Ala, XP_005260063.1:p.Val1554Ala, XP_005260064.1:p.Val1497Ala, NP_001358532.2:p.Val864Ala, XP_005260065.1:p.Val950Ala, XP_005260068.1:p.Val760Ala, XP_005260067.1:p.Val766Ala, NP_001317324.2:p.Val731Ala, XP_011526465.1:p.Val766Ala, NP_067064.2:p.Val592Ala, XP_047295131.1:p.Val1687Ala, NP_001358518.1:p.Val1687Ala, XP_047295132.1:p.Val1497Ala, XP_047295133.1:p.Val913Ala, XP_047295135.1:p.Val856Ala, XP_047295134.1:p.Val893Ala, XP_047295136.1:p.Val760Ala, XP_047295137.1:p.Val723Ala

                                        20.

                                        rs1482002924 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          19:15425628 (GRCh38)
                                          19:15536439 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:15425627:T:C,NC_000019.10:15425627:T:G
                                          Gene:
                                          WIZ (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000019.10:g.15425628T>C, NC_000019.10:g.15425628T>G, NC_000019.9:g.15536439T>C, NC_000019.9:g.15536439T>G, XM_005260005.5:c.4336A>G, XM_005260005.5:c.4336A>C, XM_005260005.4:c.4336A>G, XM_005260005.4:c.4336A>C, XM_005260005.3:c.4336A>G, XM_005260005.3:c.4336A>C, XM_005260005.2:c.4336A>G, XM_005260005.2:c.4336A>C, XM_005260005.1:c.4336A>G, XM_005260005.1:c.4336A>C, XM_005260006.5:c.4108A>G, XM_005260006.5:c.4108A>C, XM_005260006.4:c.4108A>G, XM_005260006.4:c.4108A>C, XM_005260006.3:c.4108A>G, XM_005260006.3:c.4108A>C, XM_005260006.2:c.4108A>G, XM_005260006.2:c.4108A>C, XM_005260006.1:c.4108A>G, XM_005260006.1:c.4108A>C, XM_005260007.5:c.3937A>G, XM_005260007.5:c.3937A>C, XM_005260007.4:c.3937A>G, XM_005260007.4:c.3937A>C, XM_005260007.3:c.3937A>G, XM_005260007.3:c.3937A>C, XM_005260007.2:c.3937A>G, XM_005260007.2:c.3937A>C, XM_005260007.1:c.3937A>G, XM_005260007.1:c.3937A>C, NM_001371603.5:c.2038A>G, NM_001371603.5:c.2038A>C, NM_001371603.4:c.1744A>G, NM_001371603.4:c.1744A>C, NM_001371603.3:c.1744A>G, NM_001371603.3:c.1744A>C, NM_001371603.2:c.1744A>G, NM_001371603.2:c.1744A>C, NM_001371603.1:c.1744A>G, NM_001371603.1:c.1744A>C, XM_005260008.4:c.2296A>G, XM_005260008.4:c.2296A>C, XM_005260008.3:c.2296A>G, XM_005260008.3:c.2296A>C, XM_005260008.2:c.2296A>G, XM_005260008.2:c.2296A>C, XM_005260008.1:c.2296A>G, XM_005260008.1:c.2296A>C, XM_005260011.4:c.1726A>G, XM_005260011.4:c.1726A>C, XM_005260011.3:c.1726A>G, XM_005260011.3:c.1726A>C, XM_005260011.2:c.1726A>G, XM_005260011.2:c.1726A>C, XM_005260011.1:c.1726A>G, XM_005260011.1:c.1726A>C, XM_005260010.4:c.1744A>G, XM_005260010.4:c.1744A>C, XM_005260010.3:c.1744A>G, XM_005260010.3:c.1744A>C, XM_005260010.2:c.1744A>G, XM_005260010.2:c.1744A>C, XM_005260010.1:c.1744A>G, XM_005260010.1:c.1744A>C, NM_001330395.4:c.1639A>G, NM_001330395.4:c.1639A>C, NM_001330395.3:c.1345A>G, NM_001330395.3:c.1345A>C, NM_001330395.2:c.1345A>G, NM_001330395.2:c.1345A>C, NM_001330395.1:c.1345A>G, NM_001330395.1:c.1345A>C, XM_011528163.3:c.1744A>G, XM_011528163.3:c.1744A>C, XM_011528163.2:c.1744A>G, XM_011528163.2:c.1744A>C, XM_011528163.1:c.1744A>G, XM_011528163.1:c.1744A>C, NM_021241.3:c.1222A>G, NM_021241.3:c.1222A>C, NM_021241.2:c.1222A>G, NM_021241.2:c.1222A>C, XM_047439175.1:c.4507A>G, XM_047439175.1:c.4507A>C, NM_001371589.1:c.4507A>G, NM_001371589.1:c.4507A>C, XM_047439176.1:c.3937A>G, XM_047439176.1:c.3937A>C, NM_001411129.1:c.3937A>G, NM_001411129.1:c.3937A>C, XM_047439177.1:c.2185A>G, XM_047439177.1:c.2185A>C, XM_047439179.1:c.2014A>G, XM_047439179.1:c.2014A>C, XM_047439178.1:c.2125A>G, XM_047439178.1:c.2125A>C, XM_047439180.1:c.1726A>G, XM_047439180.1:c.1726A>C, XM_047439181.1:c.1615A>G, XM_047439181.1:c.1615A>C, XP_005260062.1:p.Ile1446Val, XP_005260062.1:p.Ile1446Leu, XP_005260063.1:p.Ile1370Val, XP_005260063.1:p.Ile1370Leu, XP_005260064.1:p.Ile1313Val, XP_005260064.1:p.Ile1313Leu, NP_001358532.2:p.Ile680Val, NP_001358532.2:p.Ile680Leu, XP_005260065.1:p.Ile766Val, XP_005260065.1:p.Ile766Leu, XP_005260068.1:p.Ile576Val, XP_005260068.1:p.Ile576Leu, XP_005260067.1:p.Ile582Val, XP_005260067.1:p.Ile582Leu, NP_001317324.2:p.Ile547Val, NP_001317324.2:p.Ile547Leu, XP_011526465.1:p.Ile582Val, XP_011526465.1:p.Ile582Leu, NP_067064.2:p.Ile408Val, NP_067064.2:p.Ile408Leu, XP_047295131.1:p.Ile1503Val, XP_047295131.1:p.Ile1503Leu, NP_001358518.1:p.Ile1503Val, NP_001358518.1:p.Ile1503Leu, XP_047295132.1:p.Ile1313Val, XP_047295132.1:p.Ile1313Leu, XP_047295133.1:p.Ile729Val, XP_047295133.1:p.Ile729Leu, XP_047295135.1:p.Ile672Val, XP_047295135.1:p.Ile672Leu, XP_047295134.1:p.Ile709Val, XP_047295134.1:p.Ile709Leu, XP_047295136.1:p.Ile576Val, XP_047295136.1:p.Ile576Leu, XP_047295137.1:p.Ile539Val, XP_047295137.1:p.Ile539Leu

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