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Items: 1 to 20 of 142

1.

rs1488756044 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    3:133584089 (GRCh38)
    3:133302933 (GRCh37)
    Canonical SPDI:
    NC_000003.12:133584088:A:C
    Gene:
    CDV3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    C=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.133584089A>C, NC_000003.11:g.133302933A>C, XM_005247588.6:c.405A>C, XM_005247588.5:c.405A>C, XM_005247588.4:c.405A>C, XM_005247588.3:c.405A>C, XM_005247588.2:c.405A>C, XM_005247588.1:c.405A>C, XM_005247589.6:c.402A>C, XM_005247589.5:c.402A>C, XM_005247589.4:c.402A>C, XM_005247589.3:c.402A>C, XM_005247589.2:c.402A>C, XM_005247589.1:c.402A>C, XM_005247590.6:c.402A>C, XM_005247591.6:c.405A>C, XM_005247591.5:c.405A>C, XM_005247591.4:c.405A>C, XM_005247591.3:c.405A>C, XM_005247591.2:c.405A>C, XM_005247591.1:c.405A>C, XM_005247594.6:c.96A>C, XM_005247594.5:c.96A>C, XM_005247594.4:c.96A>C, XM_005247594.3:c.96A>C, XM_005247594.2:c.96A>C, XM_005247594.1:c.96A>C, NM_017548.5:c.405A>C, NM_017548.4:c.405A>C, XM_005247592.5:c.99A>C, XM_005247592.4:c.99A>C, XM_005247592.3:c.99A>C, XM_005247592.2:c.99A>C, XM_005247592.1:c.99A>C, XM_011512961.4:c.405A>C, XM_011512961.3:c.405A>C, XM_011512961.2:c.405A>C, XM_011512961.1:c.405A>C, XM_011512962.3:c.99A>C, XM_011512962.2:c.99A>C, XM_011512962.1:c.99A>C, NM_001134422.2:c.405A>C, NM_001134422.1:c.405A>C, NM_001134423.2:c.99A>C, NM_001134423.1:c.99A>C, NM_001282762.2:c.99A>C, NM_001282762.1:c.99A>C, XM_047448520.1:c.402A>C, NM_001282765.1:c.99A>C, NM_001410823.1:c.402A>C, XM_047448524.1:c.99A>C, XM_047448523.1:c.99A>C, XM_047448521.1:c.402A>C, XM_047448525.1:c.99A>C, NM_001282763.1:c.99A>C, NM_001282764.1:c.99A>C, XP_005247645.1:p.Glu135Asp, XP_005247646.1:p.Glu134Asp, XP_005247647.1:p.Glu134Asp, XP_005247648.1:p.Glu135Asp, XP_005247651.1:p.Glu32Asp, NP_060018.1:p.Glu135Asp, XP_005247649.1:p.Glu33Asp, XP_011511263.1:p.Glu135Asp, XP_011511264.1:p.Glu33Asp, NP_001127894.1:p.Glu135Asp, NP_001127895.1:p.Glu33Asp, NP_001269691.1:p.Glu33Asp, XP_047304476.1:p.Glu134Asp, NP_001269694.1:p.Glu33Asp, XP_047304480.1:p.Glu33Asp, XP_047304479.1:p.Glu33Asp, XP_047304477.1:p.Glu134Asp, XP_047304481.1:p.Glu33Asp, NP_001269692.1:p.Glu33Asp, NP_001269693.1:p.Glu33Asp

    2.

    rs1486488672 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:133587982 (GRCh38)
      3:133306826 (GRCh37)
      Canonical SPDI:
      NC_000003.12:133587981:T:C
      Gene:
      CDV3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000111/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.133587982T>C, NC_000003.11:g.133306826T>C, XM_005247588.6:c.716T>C, XM_005247588.5:c.716T>C, XM_005247588.4:c.716T>C, XM_005247588.3:c.716T>C, XM_005247588.2:c.716T>C, XM_005247588.1:c.716T>C, XM_005247589.6:c.713T>C, XM_005247589.5:c.713T>C, XM_005247589.4:c.713T>C, XM_005247589.3:c.713T>C, XM_005247589.2:c.713T>C, XM_005247589.1:c.713T>C, XM_005247590.6:c.710T>C, XM_005247594.6:c.407T>C, XM_005247594.5:c.407T>C, XM_005247594.4:c.407T>C, XM_005247594.3:c.407T>C, XM_005247594.2:c.407T>C, XM_005247594.1:c.407T>C, NM_017548.5:c.713T>C, NM_017548.4:c.713T>C, XM_005247592.5:c.410T>C, XM_005247592.4:c.410T>C, XM_005247592.3:c.410T>C, XM_005247592.2:c.410T>C, XM_005247592.1:c.410T>C, XM_011512961.4:c.*808T>C, XM_011512961.3:c.*808T>C, XM_011512961.2:c.*808T>C, XM_011512961.1:c.*808T>C, XM_011512962.3:c.410T>C, XM_011512962.2:c.410T>C, XM_011512962.1:c.410T>C, NM_001134422.2:c.*808T>C, NM_001134422.1:c.*808T>C, NM_001134423.2:c.*808T>C, NM_001134423.1:c.*808T>C, NM_001282762.2:c.407T>C, NM_001282762.1:c.407T>C, XM_047448520.1:c.*808T>C, NM_001282765.1:c.*808T>C, NM_001410823.1:c.710T>C, XM_047448524.1:c.410T>C, XM_047448523.1:c.410T>C, XM_047448525.1:c.410T>C, NM_001282763.1:c.407T>C, XP_005247645.1:p.Leu239Pro, XP_005247646.1:p.Leu238Pro, XP_005247647.1:p.Leu237Pro, XP_005247651.1:p.Leu136Pro, NP_060018.1:p.Leu238Pro, XP_005247649.1:p.Leu137Pro, XP_011511264.1:p.Leu137Pro, NP_001269691.1:p.Leu136Pro, XP_047304480.1:p.Leu137Pro, XP_047304479.1:p.Leu137Pro, XP_047304481.1:p.Leu137Pro, NP_001269692.1:p.Leu136Pro

      3.

      rs1476784231 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        3:133587992 (GRCh38)
        3:133306836 (GRCh37)
        Canonical SPDI:
        NC_000003.12:133587991:C:T
        Gene:
        CDV3 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000003.12:g.133587992C>T, NC_000003.11:g.133306836C>T, XM_005247588.6:c.726C>T, XM_005247588.5:c.726C>T, XM_005247588.4:c.726C>T, XM_005247588.3:c.726C>T, XM_005247588.2:c.726C>T, XM_005247588.1:c.726C>T, XM_005247589.6:c.723C>T, XM_005247589.5:c.723C>T, XM_005247589.4:c.723C>T, XM_005247589.3:c.723C>T, XM_005247589.2:c.723C>T, XM_005247589.1:c.723C>T, XM_005247590.6:c.720C>T, XM_005247594.6:c.417C>T, XM_005247594.5:c.417C>T, XM_005247594.4:c.417C>T, XM_005247594.3:c.417C>T, XM_005247594.2:c.417C>T, XM_005247594.1:c.417C>T, NM_017548.5:c.723C>T, NM_017548.4:c.723C>T, XM_005247592.5:c.420C>T, XM_005247592.4:c.420C>T, XM_005247592.3:c.420C>T, XM_005247592.2:c.420C>T, XM_005247592.1:c.420C>T, XM_011512961.4:c.*818C>T, XM_011512961.3:c.*818C>T, XM_011512961.2:c.*818C>T, XM_011512961.1:c.*818C>T, XM_011512962.3:c.420C>T, XM_011512962.2:c.420C>T, XM_011512962.1:c.420C>T, NM_001134422.2:c.*818C>T, NM_001134422.1:c.*818C>T, NM_001134423.2:c.*818C>T, NM_001134423.1:c.*818C>T, NM_001282762.2:c.417C>T, NM_001282762.1:c.417C>T, XM_047448520.1:c.*818C>T, NM_001282765.1:c.*818C>T, NM_001410823.1:c.720C>T, XM_047448524.1:c.420C>T, XM_047448523.1:c.420C>T, XM_047448525.1:c.420C>T, NM_001282763.1:c.417C>T

        4.

        rs1468626193 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          3:133587981 (GRCh38)
          3:133306825 (GRCh37)
          Canonical SPDI:
          NC_000003.12:133587980:C:T
          Gene:
          CDV3 (Varview)
          Functional Consequence:
          missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_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=0.000011/3 (TOPMED)
          HGVS:
          NC_000003.12:g.133587981C>T, NC_000003.11:g.133306825C>T, XM_005247588.6:c.715C>T, XM_005247588.5:c.715C>T, XM_005247588.4:c.715C>T, XM_005247588.3:c.715C>T, XM_005247588.2:c.715C>T, XM_005247588.1:c.715C>T, XM_005247589.6:c.712C>T, XM_005247589.5:c.712C>T, XM_005247589.4:c.712C>T, XM_005247589.3:c.712C>T, XM_005247589.2:c.712C>T, XM_005247589.1:c.712C>T, XM_005247590.6:c.709C>T, XM_005247594.6:c.406C>T, XM_005247594.5:c.406C>T, XM_005247594.4:c.406C>T, XM_005247594.3:c.406C>T, XM_005247594.2:c.406C>T, XM_005247594.1:c.406C>T, NM_017548.5:c.712C>T, NM_017548.4:c.712C>T, XM_005247592.5:c.409C>T, XM_005247592.4:c.409C>T, XM_005247592.3:c.409C>T, XM_005247592.2:c.409C>T, XM_005247592.1:c.409C>T, XM_011512961.4:c.*807C>T, XM_011512961.3:c.*807C>T, XM_011512961.2:c.*807C>T, XM_011512961.1:c.*807C>T, XM_011512962.3:c.409C>T, XM_011512962.2:c.409C>T, XM_011512962.1:c.409C>T, NM_001134422.2:c.*807C>T, NM_001134422.1:c.*807C>T, NM_001134423.2:c.*807C>T, NM_001134423.1:c.*807C>T, NM_001282762.2:c.406C>T, NM_001282762.1:c.406C>T, XM_047448520.1:c.*807C>T, NM_001282765.1:c.*807C>T, NM_001410823.1:c.709C>T, XM_047448524.1:c.409C>T, XM_047448523.1:c.409C>T, XM_047448525.1:c.409C>T, NM_001282763.1:c.406C>T, XP_005247645.1:p.Leu239Phe, XP_005247646.1:p.Leu238Phe, XP_005247647.1:p.Leu237Phe, XP_005247651.1:p.Leu136Phe, NP_060018.1:p.Leu238Phe, XP_005247649.1:p.Leu137Phe, XP_011511264.1:p.Leu137Phe, NP_001269691.1:p.Leu136Phe, XP_047304480.1:p.Leu137Phe, XP_047304479.1:p.Leu137Phe, XP_047304481.1:p.Leu137Phe, NP_001269692.1:p.Leu136Phe

          5.

          rs1462571075 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:133587999 (GRCh38)
            3:133306843 (GRCh37)
            Canonical SPDI:
            NC_000003.12:133587998:T:C
            Gene:
            CDV3 (Varview)
            Functional Consequence:
            intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0.000047/1 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.133587999T>C, NC_000003.11:g.133306843T>C, XM_005247588.6:c.733T>C, XM_005247588.5:c.733T>C, XM_005247588.4:c.733T>C, XM_005247588.3:c.733T>C, XM_005247588.2:c.733T>C, XM_005247588.1:c.733T>C, XM_005247589.6:c.730T>C, XM_005247589.5:c.730T>C, XM_005247589.4:c.730T>C, XM_005247589.3:c.730T>C, XM_005247589.2:c.730T>C, XM_005247589.1:c.730T>C, XM_005247590.6:c.727T>C, XM_005247594.6:c.424T>C, XM_005247594.5:c.424T>C, XM_005247594.4:c.424T>C, XM_005247594.3:c.424T>C, XM_005247594.2:c.424T>C, XM_005247594.1:c.424T>C, NM_017548.5:c.730T>C, NM_017548.4:c.730T>C, XM_005247592.5:c.427T>C, XM_005247592.4:c.427T>C, XM_005247592.3:c.427T>C, XM_005247592.2:c.427T>C, XM_005247592.1:c.427T>C, XM_011512961.4:c.*825T>C, XM_011512961.3:c.*825T>C, XM_011512961.2:c.*825T>C, XM_011512961.1:c.*825T>C, XM_011512962.3:c.427T>C, XM_011512962.2:c.427T>C, XM_011512962.1:c.427T>C, NM_001134422.2:c.*825T>C, NM_001134422.1:c.*825T>C, NM_001134423.2:c.*825T>C, NM_001134423.1:c.*825T>C, NM_001282762.2:c.424T>C, NM_001282762.1:c.424T>C, XM_047448520.1:c.*825T>C, NM_001282765.1:c.*825T>C, NM_001410823.1:c.727T>C, XM_047448524.1:c.427T>C, XM_047448523.1:c.427T>C, XM_047448525.1:c.427T>C, NM_001282763.1:c.424T>C, XP_005247645.1:p.Tyr245His, XP_005247646.1:p.Tyr244His, XP_005247647.1:p.Tyr243His, XP_005247651.1:p.Tyr142His, NP_060018.1:p.Tyr244His, XP_005247649.1:p.Tyr143His, XP_011511264.1:p.Tyr143His, NP_001269691.1:p.Tyr142His, XP_047304480.1:p.Tyr143His, XP_047304479.1:p.Tyr143His, XP_047304481.1:p.Tyr143His, NP_001269692.1:p.Tyr142His

            6.

            rs1462397896 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,T [Show Flanks]
              Chromosome:
              3:133584139 (GRCh38)
              3:133302983 (GRCh37)
              Canonical SPDI:
              NC_000003.12:133584138:C:A,NC_000003.12:133584138:C:T
              Gene:
              CDV3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000011/3 (TOPMED)
              T=0.000014/2 (GnomAD)
              HGVS:
              NC_000003.12:g.133584139C>A, NC_000003.12:g.133584139C>T, NC_000003.11:g.133302983C>A, NC_000003.11:g.133302983C>T, XM_005247588.6:c.455C>A, XM_005247588.6:c.455C>T, XM_005247588.5:c.455C>A, XM_005247588.5:c.455C>T, XM_005247588.4:c.455C>A, XM_005247588.4:c.455C>T, XM_005247588.3:c.455C>A, XM_005247588.3:c.455C>T, XM_005247588.2:c.455C>A, XM_005247588.2:c.455C>T, XM_005247588.1:c.455C>A, XM_005247588.1:c.455C>T, XM_005247589.6:c.452C>A, XM_005247589.6:c.452C>T, XM_005247589.5:c.452C>A, XM_005247589.5:c.452C>T, XM_005247589.4:c.452C>A, XM_005247589.4:c.452C>T, XM_005247589.3:c.452C>A, XM_005247589.3:c.452C>T, XM_005247589.2:c.452C>A, XM_005247589.2:c.452C>T, XM_005247589.1:c.452C>A, XM_005247589.1:c.452C>T, XM_005247590.6:c.452C>A, XM_005247590.6:c.452C>T, XM_005247591.6:c.455C>A, XM_005247591.6:c.455C>T, XM_005247591.5:c.455C>A, XM_005247591.5:c.455C>T, XM_005247591.4:c.455C>A, XM_005247591.4:c.455C>T, XM_005247591.3:c.455C>A, XM_005247591.3:c.455C>T, XM_005247591.2:c.455C>A, XM_005247591.2:c.455C>T, XM_005247591.1:c.455C>A, XM_005247591.1:c.455C>T, XM_005247594.6:c.146C>A, XM_005247594.6:c.146C>T, XM_005247594.5:c.146C>A, XM_005247594.5:c.146C>T, XM_005247594.4:c.146C>A, XM_005247594.4:c.146C>T, XM_005247594.3:c.146C>A, XM_005247594.3:c.146C>T, XM_005247594.2:c.146C>A, XM_005247594.2:c.146C>T, XM_005247594.1:c.146C>A, XM_005247594.1:c.146C>T, NM_017548.5:c.455C>A, NM_017548.5:c.455C>T, NM_017548.4:c.455C>A, NM_017548.4:c.455C>T, XM_005247592.5:c.149C>A, XM_005247592.5:c.149C>T, XM_005247592.4:c.149C>A, XM_005247592.4:c.149C>T, XM_005247592.3:c.149C>A, XM_005247592.3:c.149C>T, XM_005247592.2:c.149C>A, XM_005247592.2:c.149C>T, XM_005247592.1:c.149C>A, XM_005247592.1:c.149C>T, XM_011512961.4:c.455C>A, XM_011512961.4:c.455C>T, XM_011512961.3:c.455C>A, XM_011512961.3:c.455C>T, XM_011512961.2:c.455C>A, XM_011512961.2:c.455C>T, XM_011512961.1:c.455C>A, XM_011512961.1:c.455C>T, XM_011512962.3:c.149C>A, XM_011512962.3:c.149C>T, XM_011512962.2:c.149C>A, XM_011512962.2:c.149C>T, XM_011512962.1:c.149C>A, XM_011512962.1:c.149C>T, NM_001134422.2:c.455C>A, NM_001134422.2:c.455C>T, NM_001134422.1:c.455C>A, NM_001134422.1:c.455C>T, NM_001134423.2:c.149C>A, NM_001134423.2:c.149C>T, NM_001134423.1:c.149C>A, NM_001134423.1:c.149C>T, NM_001282762.2:c.149C>A, NM_001282762.2:c.149C>T, NM_001282762.1:c.149C>A, NM_001282762.1:c.149C>T, XM_047448520.1:c.452C>A, XM_047448520.1:c.452C>T, NM_001282765.1:c.149C>A, NM_001282765.1:c.149C>T, NM_001410823.1:c.452C>A, NM_001410823.1:c.452C>T, XM_047448524.1:c.149C>A, XM_047448524.1:c.149C>T, XM_047448523.1:c.149C>A, XM_047448523.1:c.149C>T, XM_047448521.1:c.452C>A, XM_047448521.1:c.452C>T, XM_047448525.1:c.149C>A, XM_047448525.1:c.149C>T, NM_001282763.1:c.149C>A, NM_001282763.1:c.149C>T, NM_001282764.1:c.149C>A, NM_001282764.1:c.149C>T, XP_005247645.1:p.Ala152Asp, XP_005247645.1:p.Ala152Val, XP_005247646.1:p.Ala151Asp, XP_005247646.1:p.Ala151Val, XP_005247647.1:p.Ala151Asp, XP_005247647.1:p.Ala151Val, XP_005247648.1:p.Ala152Asp, XP_005247648.1:p.Ala152Val, XP_005247651.1:p.Ala49Asp, XP_005247651.1:p.Ala49Val, NP_060018.1:p.Ala152Asp, NP_060018.1:p.Ala152Val, XP_005247649.1:p.Ala50Asp, XP_005247649.1:p.Ala50Val, XP_011511263.1:p.Ala152Asp, XP_011511263.1:p.Ala152Val, XP_011511264.1:p.Ala50Asp, XP_011511264.1:p.Ala50Val, NP_001127894.1:p.Ala152Asp, NP_001127894.1:p.Ala152Val, NP_001127895.1:p.Ala50Asp, NP_001127895.1:p.Ala50Val, NP_001269691.1:p.Ala50Asp, NP_001269691.1:p.Ala50Val, XP_047304476.1:p.Ala151Asp, XP_047304476.1:p.Ala151Val, NP_001269694.1:p.Ala50Asp, NP_001269694.1:p.Ala50Val, XP_047304480.1:p.Ala50Asp, XP_047304480.1:p.Ala50Val, XP_047304479.1:p.Ala50Asp, XP_047304479.1:p.Ala50Val, XP_047304477.1:p.Ala151Asp, XP_047304477.1:p.Ala151Val, XP_047304481.1:p.Ala50Asp, XP_047304481.1:p.Ala50Val, NP_001269692.1:p.Ala50Asp, NP_001269692.1:p.Ala50Val, NP_001269693.1:p.Ala50Asp, NP_001269693.1:p.Ala50Val

              7.

              rs1446583493 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:133586615 (GRCh38)
                3:133305459 (GRCh37)
                Canonical SPDI:
                NC_000003.12:133586614:G:A
                Gene:
                CDV3 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.133586615G>A, NC_000003.11:g.133305459G>A, XM_005247588.6:c.519G>A, XM_005247588.5:c.519G>A, XM_005247588.4:c.519G>A, XM_005247588.3:c.519G>A, XM_005247588.2:c.519G>A, XM_005247588.1:c.519G>A, XM_005247589.6:c.516G>A, XM_005247589.5:c.516G>A, XM_005247589.4:c.516G>A, XM_005247589.3:c.516G>A, XM_005247589.2:c.516G>A, XM_005247589.1:c.516G>A, XM_005247590.6:c.516G>A, XM_005247591.6:c.519G>A, XM_005247591.5:c.519G>A, XM_005247591.4:c.519G>A, XM_005247591.3:c.519G>A, XM_005247591.2:c.519G>A, XM_005247591.1:c.519G>A, XM_005247594.6:c.210G>A, XM_005247594.5:c.210G>A, XM_005247594.4:c.210G>A, XM_005247594.3:c.210G>A, XM_005247594.2:c.210G>A, XM_005247594.1:c.210G>A, NM_017548.5:c.519G>A, NM_017548.4:c.519G>A, XM_005247592.5:c.213G>A, XM_005247592.4:c.213G>A, XM_005247592.3:c.213G>A, XM_005247592.2:c.213G>A, XM_005247592.1:c.213G>A, XM_011512961.4:c.519G>A, XM_011512961.3:c.519G>A, XM_011512961.2:c.519G>A, XM_011512961.1:c.519G>A, XM_011512962.3:c.213G>A, XM_011512962.2:c.213G>A, XM_011512962.1:c.213G>A, NM_001134422.2:c.519G>A, NM_001134422.1:c.519G>A, NM_001134423.2:c.213G>A, NM_001134423.1:c.213G>A, NM_001282762.2:c.213G>A, NM_001282762.1:c.213G>A, XM_047448520.1:c.516G>A, NM_001282765.1:c.207G>A, NM_001410823.1:c.516G>A, XM_047448524.1:c.213G>A, XM_047448523.1:c.213G>A, XM_047448521.1:c.516G>A, XM_047448525.1:c.213G>A, NM_001282763.1:c.213G>A, NM_001282764.1:c.213G>A

                8.

                rs1433770419 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:133584016 (GRCh38)
                  3:133302860 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:133584015:A:G
                  Gene:
                  CDV3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000003.12:g.133584016A>G, NC_000003.11:g.133302860A>G, XM_005247588.6:c.332A>G, XM_005247588.5:c.332A>G, XM_005247588.4:c.332A>G, XM_005247588.3:c.332A>G, XM_005247588.2:c.332A>G, XM_005247588.1:c.332A>G, XM_005247589.6:c.329A>G, XM_005247589.5:c.329A>G, XM_005247589.4:c.329A>G, XM_005247589.3:c.329A>G, XM_005247589.2:c.329A>G, XM_005247589.1:c.329A>G, XM_005247590.6:c.329A>G, XM_005247591.6:c.332A>G, XM_005247591.5:c.332A>G, XM_005247591.4:c.332A>G, XM_005247591.3:c.332A>G, XM_005247591.2:c.332A>G, XM_005247591.1:c.332A>G, XM_005247594.6:c.23A>G, XM_005247594.5:c.23A>G, XM_005247594.4:c.23A>G, XM_005247594.3:c.23A>G, XM_005247594.2:c.23A>G, XM_005247594.1:c.23A>G, NM_017548.5:c.332A>G, NM_017548.4:c.332A>G, XM_005247592.5:c.26A>G, XM_005247592.4:c.26A>G, XM_005247592.3:c.26A>G, XM_005247592.2:c.26A>G, XM_005247592.1:c.26A>G, XM_011512961.4:c.332A>G, XM_011512961.3:c.332A>G, XM_011512961.2:c.332A>G, XM_011512961.1:c.332A>G, XM_011512962.3:c.26A>G, XM_011512962.2:c.26A>G, XM_011512962.1:c.26A>G, NM_001134422.2:c.332A>G, NM_001134422.1:c.332A>G, NM_001134423.2:c.26A>G, NM_001134423.1:c.26A>G, NM_001282762.2:c.26A>G, NM_001282762.1:c.26A>G, XM_047448520.1:c.329A>G, NM_001282765.1:c.26A>G, NM_001410823.1:c.329A>G, XM_047448524.1:c.26A>G, XM_047448523.1:c.26A>G, XM_047448521.1:c.329A>G, XM_047448525.1:c.26A>G, NM_001282763.1:c.26A>G, NM_001282764.1:c.26A>G, XP_005247645.1:p.Glu111Gly, XP_005247646.1:p.Glu110Gly, XP_005247647.1:p.Glu110Gly, XP_005247648.1:p.Glu111Gly, XP_005247651.1:p.Glu8Gly, NP_060018.1:p.Glu111Gly, XP_005247649.1:p.Glu9Gly, XP_011511263.1:p.Glu111Gly, XP_011511264.1:p.Glu9Gly, NP_001127894.1:p.Glu111Gly, NP_001127895.1:p.Glu9Gly, NP_001269691.1:p.Glu9Gly, XP_047304476.1:p.Glu110Gly, NP_001269694.1:p.Glu9Gly, XP_047304480.1:p.Glu9Gly, XP_047304479.1:p.Glu9Gly, XP_047304477.1:p.Glu110Gly, XP_047304481.1:p.Glu9Gly, NP_001269692.1:p.Glu9Gly, NP_001269693.1:p.Glu9Gly

                  9.

                  rs1431332155 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    3:133586702 (GRCh38)
                    3:133305546 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:133586701:C:T
                    Gene:
                    CDV3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000003.12:g.133586702C>T, NC_000003.11:g.133305546C>T, XM_005247588.6:c.606C>T, XM_005247588.5:c.606C>T, XM_005247588.4:c.606C>T, XM_005247588.3:c.606C>T, XM_005247588.2:c.606C>T, XM_005247588.1:c.606C>T, XM_005247589.6:c.603C>T, XM_005247589.5:c.603C>T, XM_005247589.4:c.603C>T, XM_005247589.3:c.603C>T, XM_005247589.2:c.603C>T, XM_005247589.1:c.603C>T, XM_005247590.6:c.603C>T, XM_005247591.6:c.606C>T, XM_005247591.5:c.606C>T, XM_005247591.4:c.606C>T, XM_005247591.3:c.606C>T, XM_005247591.2:c.606C>T, XM_005247591.1:c.606C>T, XM_005247594.6:c.297C>T, XM_005247594.5:c.297C>T, XM_005247594.4:c.297C>T, XM_005247594.3:c.297C>T, XM_005247594.2:c.297C>T, XM_005247594.1:c.297C>T, NM_017548.5:c.606C>T, NM_017548.4:c.606C>T, XM_005247592.5:c.300C>T, XM_005247592.4:c.300C>T, XM_005247592.3:c.300C>T, XM_005247592.2:c.300C>T, XM_005247592.1:c.300C>T, XM_011512961.4:c.606C>T, XM_011512961.3:c.606C>T, XM_011512961.2:c.606C>T, XM_011512961.1:c.606C>T, XM_011512962.3:c.300C>T, XM_011512962.2:c.300C>T, XM_011512962.1:c.300C>T, NM_001134422.2:c.606C>T, NM_001134422.1:c.606C>T, NM_001134423.2:c.300C>T, NM_001134423.1:c.300C>T, NM_001282762.2:c.300C>T, NM_001282762.1:c.300C>T, XM_047448520.1:c.603C>T, NM_001282765.1:c.294C>T, NM_001410823.1:c.603C>T, XM_047448524.1:c.300C>T, XM_047448523.1:c.300C>T, XM_047448521.1:c.603C>T, XM_047448525.1:c.300C>T, NM_001282763.1:c.300C>T, NM_001282764.1:c.300C>T

                    10.

                    rs1423797558 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CAC>- [Show Flanks]
                      Chromosome:
                      3:133586644 (GRCh38)
                      3:133305488 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:133586640:CACCAC:CAC
                      Gene:
                      CDV3 (Varview)
                      Functional Consequence:
                      inframe_deletion,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CACCAC=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.133586641CAC[1], NC_000003.11:g.133305485CAC[1], XM_005247588.6:c.545CAC[1], XM_005247588.5:c.545CAC[1], XM_005247588.4:c.545CAC[1], XM_005247588.3:c.545CAC[1], XM_005247588.2:c.545CAC[1], XM_005247588.1:c.545CAC[1], XM_005247589.6:c.542CAC[1], XM_005247589.5:c.542CAC[1], XM_005247589.4:c.542CAC[1], XM_005247589.3:c.542CAC[1], XM_005247589.2:c.542CAC[1], XM_005247589.1:c.542CAC[1], XM_005247590.6:c.542CAC[1], XM_005247591.6:c.545CAC[1], XM_005247591.5:c.545CAC[1], XM_005247591.4:c.545CAC[1], XM_005247591.3:c.545CAC[1], XM_005247591.2:c.545CAC[1], XM_005247591.1:c.545CAC[1], XM_005247594.6:c.236CAC[1], XM_005247594.5:c.236CAC[1], XM_005247594.4:c.236CAC[1], XM_005247594.3:c.236CAC[1], XM_005247594.2:c.236CAC[1], XM_005247594.1:c.236CAC[1], NM_017548.5:c.545CAC[1], NM_017548.4:c.545CAC[1], XM_005247592.5:c.239CAC[1], XM_005247592.4:c.239CAC[1], XM_005247592.3:c.239CAC[1], XM_005247592.2:c.239CAC[1], XM_005247592.1:c.239CAC[1], XM_011512961.4:c.545CAC[1], XM_011512961.3:c.545CAC[1], XM_011512961.2:c.545CAC[1], XM_011512961.1:c.545CAC[1], XM_011512962.3:c.239CAC[1], XM_011512962.2:c.239CAC[1], XM_011512962.1:c.239CAC[1], NM_001134422.2:c.545CAC[1], NM_001134422.1:c.545CAC[1], NM_001134423.2:c.239CAC[1], NM_001134423.1:c.239CAC[1], NM_001282762.2:c.239CAC[1], NM_001282762.1:c.239CAC[1], XM_047448520.1:c.542CAC[1], NM_001282765.1:c.233CAC[1], NM_001410823.1:c.542CAC[1], XM_047448524.1:c.239CAC[1], XM_047448523.1:c.239CAC[1], XM_047448521.1:c.542CAC[1], XM_047448525.1:c.239CAC[1], NM_001282763.1:c.239CAC[1], NM_001282764.1:c.239CAC[1], XP_005247645.1:p.Pro183del, XP_005247646.1:p.Pro182del, XP_005247647.1:p.Pro182del, XP_005247648.1:p.Pro183del, XP_005247651.1:p.Pro80del, NP_060018.1:p.Pro183del, XP_005247649.1:p.Pro81del, XP_011511263.1:p.Pro183del, XP_011511264.1:p.Pro81del, NP_001127894.1:p.Pro183del, NP_001127895.1:p.Pro81del, NP_001269691.1:p.Pro81del, XP_047304476.1:p.Pro182del, NP_001269694.1:p.Pro79del, XP_047304480.1:p.Pro81del, XP_047304479.1:p.Pro81del, XP_047304477.1:p.Pro182del, XP_047304481.1:p.Pro81del, NP_001269692.1:p.Pro81del, NP_001269693.1:p.Pro81del

                      11.

                      rs1422829351 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        3:133587935 (GRCh38)
                        3:133306779 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:133587931:ACACA:ACA
                        Gene:
                        CDV3 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        -=0.000071/1 (TOMMO)
                        HGVS:
                        NC_000003.12:g.133587933CA[1], NC_000003.11:g.133306777CA[1], XM_005247588.6:c.669_670del, XM_005247588.5:c.669_670del, XM_005247588.4:c.669_670del, XM_005247588.3:c.669_670del, XM_005247588.2:c.669_670del, XM_005247588.1:c.669_670del, XM_005247589.6:c.666_667del, XM_005247589.5:c.666_667del, XM_005247589.4:c.666_667del, XM_005247589.3:c.666_667del, XM_005247589.2:c.666_667del, XM_005247589.1:c.666_667del, XM_005247590.6:c.663_664del, XM_005247594.6:c.360_361del, XM_005247594.5:c.360_361del, XM_005247594.4:c.360_361del, XM_005247594.3:c.360_361del, XM_005247594.2:c.360_361del, XM_005247594.1:c.360_361del, NM_017548.5:c.666_667del, NM_017548.4:c.666_667del, XM_005247592.5:c.363_364del, XM_005247592.4:c.363_364del, XM_005247592.3:c.363_364del, XM_005247592.2:c.363_364del, XM_005247592.1:c.363_364del, XM_011512961.4:c.*759CA[1], XM_011512961.3:c.*759CA[1], XM_011512961.2:c.*759CA[1], XM_011512961.1:c.*759CA[1], XM_011512962.3:c.363_364del, XM_011512962.2:c.363_364del, XM_011512962.1:c.363_364del, NM_001134422.2:c.*759CA[1], NM_001134422.1:c.*759CA[1], NM_001134423.2:c.*759CA[1], NM_001134423.1:c.*759CA[1], NM_001282762.2:c.360_361del, NM_001282762.1:c.360_361del, XM_047448520.1:c.*759CA[1], NM_001282765.1:c.*759CA[1], NM_001410823.1:c.663_664del, XM_047448524.1:c.363_364del, XM_047448523.1:c.363_364del, XM_047448525.1:c.363_364del, NM_001282763.1:c.360_361del, XP_005247645.1:p.His223fs, XP_005247646.1:p.His222fs, XP_005247647.1:p.His221fs, XP_005247651.1:p.His120fs, NP_060018.1:p.His222fs, XP_005247649.1:p.His121fs, XP_011511264.1:p.His121fs, NP_001269691.1:p.His120fs, XP_047304480.1:p.His121fs, XP_047304479.1:p.His121fs, XP_047304481.1:p.His121fs, NP_001269692.1:p.His120fs

                        12.

                        rs1417015365 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TC>- [Show Flanks]
                          Chromosome:
                          3:133587960 (GRCh38)
                          3:133306804 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:133587959:TC:
                          Gene:
                          CDV3 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,3_prime_UTR_variant,frameshift_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.133587960_133587961del, NC_000003.11:g.133306804_133306805del, XM_005247588.6:c.694_695del, XM_005247588.5:c.694_695del, XM_005247588.4:c.694_695del, XM_005247588.3:c.694_695del, XM_005247588.2:c.694_695del, XM_005247588.1:c.694_695del, XM_005247589.6:c.691_692del, XM_005247589.5:c.691_692del, XM_005247589.4:c.691_692del, XM_005247589.3:c.691_692del, XM_005247589.2:c.691_692del, XM_005247589.1:c.691_692del, XM_005247590.6:c.688_689del, XM_005247594.6:c.385_386del, XM_005247594.5:c.385_386del, XM_005247594.4:c.385_386del, XM_005247594.3:c.385_386del, XM_005247594.2:c.385_386del, XM_005247594.1:c.385_386del, NM_017548.5:c.691_692del, NM_017548.4:c.691_692del, XM_005247592.5:c.388_389del, XM_005247592.4:c.388_389del, XM_005247592.3:c.388_389del, XM_005247592.2:c.388_389del, XM_005247592.1:c.388_389del, XM_011512961.4:c.*786_*787del, XM_011512961.3:c.*786_*787del, XM_011512961.2:c.*786_*787del, XM_011512961.1:c.*786_*787del, XM_011512962.3:c.388_389del, XM_011512962.2:c.388_389del, XM_011512962.1:c.388_389del, NM_001134422.2:c.*786_*787del, NM_001134422.1:c.*786_*787del, NM_001134423.2:c.*786_*787del, NM_001134423.1:c.*786_*787del, NM_001282762.2:c.385_386del, NM_001282762.1:c.385_386del, XM_047448520.1:c.*786_*787del, NM_001282765.1:c.*786_*787del, NM_001410823.1:c.688_689del, XM_047448524.1:c.388_389del, XM_047448523.1:c.388_389del, XM_047448525.1:c.388_389del, NM_001282763.1:c.385_386del, XP_005247645.1:p.Ser232fs, XP_005247646.1:p.Ser231fs, XP_005247647.1:p.Ser230fs, XP_005247651.1:p.Ser129fs, NP_060018.1:p.Ser231fs, XP_005247649.1:p.Ser130fs, XP_011511264.1:p.Ser130fs, NP_001269691.1:p.Ser129fs, XP_047304480.1:p.Ser130fs, XP_047304479.1:p.Ser130fs, XP_047304481.1:p.Ser130fs, NP_001269692.1:p.Ser129fs

                          13.

                          rs1405191005 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->A [Show Flanks]
                            Chromosome:
                            3:133587941 (GRCh38)
                            3:133306786 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:133587941:A:AA
                            Gene:
                            CDV3 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,frameshift_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AA=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000003.12:g.133587942dup, NC_000003.11:g.133306786dup, XM_005247588.6:c.676dup, XM_005247588.5:c.676dup, XM_005247588.4:c.676dup, XM_005247588.3:c.676dup, XM_005247588.2:c.676dup, XM_005247588.1:c.676dup, XM_005247589.6:c.673dup, XM_005247589.5:c.673dup, XM_005247589.4:c.673dup, XM_005247589.3:c.673dup, XM_005247589.2:c.673dup, XM_005247589.1:c.673dup, XM_005247590.6:c.670dup, XM_005247594.6:c.367dup, XM_005247594.5:c.367dup, XM_005247594.4:c.367dup, XM_005247594.3:c.367dup, XM_005247594.2:c.367dup, XM_005247594.1:c.367dup, NM_017548.5:c.673dup, NM_017548.4:c.673dup, XM_005247592.5:c.370dup, XM_005247592.4:c.370dup, XM_005247592.3:c.370dup, XM_005247592.2:c.370dup, XM_005247592.1:c.370dup, XM_011512961.4:c.*768dup, XM_011512961.3:c.*768dup, XM_011512961.2:c.*768dup, XM_011512961.1:c.*768dup, XM_011512962.3:c.370dup, XM_011512962.2:c.370dup, XM_011512962.1:c.370dup, NM_001134422.2:c.*768dup, NM_001134422.1:c.*768dup, NM_001134423.2:c.*768dup, NM_001134423.1:c.*768dup, NM_001282762.2:c.367dup, NM_001282762.1:c.367dup, XM_047448520.1:c.*768dup, NM_001282765.1:c.*768dup, NM_001410823.1:c.670dup, XM_047448524.1:c.370dup, XM_047448523.1:c.370dup, XM_047448525.1:c.370dup, NM_001282763.1:c.367dup, XP_005247645.1:p.Arg226fs, XP_005247646.1:p.Arg225fs, XP_005247647.1:p.Arg224fs, XP_005247651.1:p.Arg123fs, NP_060018.1:p.Arg225fs, XP_005247649.1:p.Arg124fs, XP_011511264.1:p.Arg124fs, NP_001269691.1:p.Arg123fs, XP_047304480.1:p.Arg124fs, XP_047304479.1:p.Arg124fs, XP_047304481.1:p.Arg124fs, NP_001269692.1:p.Arg123fs

                            14.

                            rs1399078032 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              3:133586663 (GRCh38)
                              3:133305507 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:133586662:C:T
                              Gene:
                              CDV3 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.133586663C>T, NC_000003.11:g.133305507C>T, XM_005247588.6:c.567C>T, XM_005247588.5:c.567C>T, XM_005247588.4:c.567C>T, XM_005247588.3:c.567C>T, XM_005247588.2:c.567C>T, XM_005247588.1:c.567C>T, XM_005247589.6:c.564C>T, XM_005247589.5:c.564C>T, XM_005247589.4:c.564C>T, XM_005247589.3:c.564C>T, XM_005247589.2:c.564C>T, XM_005247589.1:c.564C>T, XM_005247590.6:c.564C>T, XM_005247591.6:c.567C>T, XM_005247591.5:c.567C>T, XM_005247591.4:c.567C>T, XM_005247591.3:c.567C>T, XM_005247591.2:c.567C>T, XM_005247591.1:c.567C>T, XM_005247594.6:c.258C>T, XM_005247594.5:c.258C>T, XM_005247594.4:c.258C>T, XM_005247594.3:c.258C>T, XM_005247594.2:c.258C>T, XM_005247594.1:c.258C>T, NM_017548.5:c.567C>T, NM_017548.4:c.567C>T, XM_005247592.5:c.261C>T, XM_005247592.4:c.261C>T, XM_005247592.3:c.261C>T, XM_005247592.2:c.261C>T, XM_005247592.1:c.261C>T, XM_011512961.4:c.567C>T, XM_011512961.3:c.567C>T, XM_011512961.2:c.567C>T, XM_011512961.1:c.567C>T, XM_011512962.3:c.261C>T, XM_011512962.2:c.261C>T, XM_011512962.1:c.261C>T, NM_001134422.2:c.567C>T, NM_001134422.1:c.567C>T, NM_001134423.2:c.261C>T, NM_001134423.1:c.261C>T, NM_001282762.2:c.261C>T, NM_001282762.1:c.261C>T, XM_047448520.1:c.564C>T, NM_001282765.1:c.255C>T, NM_001410823.1:c.564C>T, XM_047448524.1:c.261C>T, XM_047448523.1:c.261C>T, XM_047448521.1:c.564C>T, XM_047448525.1:c.261C>T, NM_001282763.1:c.261C>T, NM_001282764.1:c.261C>T

                              15.

                              rs1398641766 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                3:133588017 (GRCh38)
                                3:133306861 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:133588016:C:T
                                Gene:
                                CDV3 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,coding_sequence_variant,stop_gained
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.133588017C>T, NC_000003.11:g.133306861C>T, XM_005247588.6:c.751C>T, XM_005247588.5:c.751C>T, XM_005247588.4:c.751C>T, XM_005247588.3:c.751C>T, XM_005247588.2:c.751C>T, XM_005247588.1:c.751C>T, XM_005247589.6:c.748C>T, XM_005247589.5:c.748C>T, XM_005247589.4:c.748C>T, XM_005247589.3:c.748C>T, XM_005247589.2:c.748C>T, XM_005247589.1:c.748C>T, XM_005247590.6:c.745C>T, XM_005247594.6:c.442C>T, XM_005247594.5:c.442C>T, XM_005247594.4:c.442C>T, XM_005247594.3:c.442C>T, XM_005247594.2:c.442C>T, XM_005247594.1:c.442C>T, NM_017548.5:c.748C>T, NM_017548.4:c.748C>T, XM_005247592.5:c.445C>T, XM_005247592.4:c.445C>T, XM_005247592.3:c.445C>T, XM_005247592.2:c.445C>T, XM_005247592.1:c.445C>T, XM_011512961.4:c.*843C>T, XM_011512961.3:c.*843C>T, XM_011512961.2:c.*843C>T, XM_011512961.1:c.*843C>T, XM_011512962.3:c.445C>T, XM_011512962.2:c.445C>T, XM_011512962.1:c.445C>T, NM_001134422.2:c.*843C>T, NM_001134422.1:c.*843C>T, NM_001134423.2:c.*843C>T, NM_001134423.1:c.*843C>T, NM_001282762.2:c.442C>T, NM_001282762.1:c.442C>T, XM_047448520.1:c.*843C>T, NM_001282765.1:c.*843C>T, NM_001410823.1:c.745C>T, XM_047448524.1:c.445C>T, XM_047448523.1:c.445C>T, XM_047448525.1:c.445C>T, NM_001282763.1:c.442C>T, XP_005247645.1:p.Gln251Ter, XP_005247646.1:p.Gln250Ter, XP_005247647.1:p.Gln249Ter, XP_005247651.1:p.Gln148Ter, NP_060018.1:p.Gln250Ter, XP_005247649.1:p.Gln149Ter, XP_011511264.1:p.Gln149Ter, NP_001269691.1:p.Gln148Ter, XP_047304480.1:p.Gln149Ter, XP_047304479.1:p.Gln149Ter, XP_047304481.1:p.Gln149Ter, NP_001269692.1:p.Gln148Ter

                                16.

                                rs1397434320 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  3:133584147 (GRCh38)
                                  3:133302991 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:133584146:A:G
                                  Gene:
                                  CDV3 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.133584147A>G, NC_000003.11:g.133302991A>G, XM_005247588.6:c.463A>G, XM_005247588.5:c.463A>G, XM_005247588.4:c.463A>G, XM_005247588.3:c.463A>G, XM_005247588.2:c.463A>G, XM_005247588.1:c.463A>G, XM_005247589.6:c.460A>G, XM_005247589.5:c.460A>G, XM_005247589.4:c.460A>G, XM_005247589.3:c.460A>G, XM_005247589.2:c.460A>G, XM_005247589.1:c.460A>G, XM_005247590.6:c.460A>G, XM_005247591.6:c.463A>G, XM_005247591.5:c.463A>G, XM_005247591.4:c.463A>G, XM_005247591.3:c.463A>G, XM_005247591.2:c.463A>G, XM_005247591.1:c.463A>G, XM_005247594.6:c.154A>G, XM_005247594.5:c.154A>G, XM_005247594.4:c.154A>G, XM_005247594.3:c.154A>G, XM_005247594.2:c.154A>G, XM_005247594.1:c.154A>G, NM_017548.5:c.463A>G, NM_017548.4:c.463A>G, XM_005247592.5:c.157A>G, XM_005247592.4:c.157A>G, XM_005247592.3:c.157A>G, XM_005247592.2:c.157A>G, XM_005247592.1:c.157A>G, XM_011512961.4:c.463A>G, XM_011512961.3:c.463A>G, XM_011512961.2:c.463A>G, XM_011512961.1:c.463A>G, XM_011512962.3:c.157A>G, XM_011512962.2:c.157A>G, XM_011512962.1:c.157A>G, NM_001134422.2:c.463A>G, NM_001134422.1:c.463A>G, NM_001134423.2:c.157A>G, NM_001134423.1:c.157A>G, NM_001282762.2:c.157A>G, NM_001282762.1:c.157A>G, XM_047448520.1:c.460A>G, NM_001282765.1:c.157A>G, NM_001410823.1:c.460A>G, XM_047448524.1:c.157A>G, XM_047448523.1:c.157A>G, XM_047448521.1:c.460A>G, XM_047448525.1:c.157A>G, NM_001282763.1:c.157A>G, NM_001282764.1:c.157A>G, XP_005247645.1:p.Ile155Val, XP_005247646.1:p.Ile154Val, XP_005247647.1:p.Ile154Val, XP_005247648.1:p.Ile155Val, XP_005247651.1:p.Ile52Val, NP_060018.1:p.Ile155Val, XP_005247649.1:p.Ile53Val, XP_011511263.1:p.Ile155Val, XP_011511264.1:p.Ile53Val, NP_001127894.1:p.Ile155Val, NP_001127895.1:p.Ile53Val, NP_001269691.1:p.Ile53Val, XP_047304476.1:p.Ile154Val, NP_001269694.1:p.Ile53Val, XP_047304480.1:p.Ile53Val, XP_047304479.1:p.Ile53Val, XP_047304477.1:p.Ile154Val, XP_047304481.1:p.Ile53Val, NP_001269692.1:p.Ile53Val, NP_001269693.1:p.Ile53Val

                                  17.

                                  rs1394093812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    3:133587917 (GRCh38)
                                    3:133306761 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:133587916:C:A
                                    Gene:
                                    CDV3 (Varview)
                                    Functional Consequence:
                                    missense_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.133587917C>A, NC_000003.11:g.133306761C>A, XM_005247588.6:c.651C>A, XM_005247588.5:c.651C>A, XM_005247588.4:c.651C>A, XM_005247588.3:c.651C>A, XM_005247588.2:c.651C>A, XM_005247588.1:c.651C>A, XM_005247589.6:c.648C>A, XM_005247589.5:c.648C>A, XM_005247589.4:c.648C>A, XM_005247589.3:c.648C>A, XM_005247589.2:c.648C>A, XM_005247589.1:c.648C>A, XM_005247590.6:c.645C>A, XM_005247594.6:c.342C>A, XM_005247594.5:c.342C>A, XM_005247594.4:c.342C>A, XM_005247594.3:c.342C>A, XM_005247594.2:c.342C>A, XM_005247594.1:c.342C>A, NM_017548.5:c.648C>A, NM_017548.4:c.648C>A, XM_005247592.5:c.345C>A, XM_005247592.4:c.345C>A, XM_005247592.3:c.345C>A, XM_005247592.2:c.345C>A, XM_005247592.1:c.345C>A, XM_011512961.4:c.*743C>A, XM_011512961.3:c.*743C>A, XM_011512961.2:c.*743C>A, XM_011512961.1:c.*743C>A, XM_011512962.3:c.345C>A, XM_011512962.2:c.345C>A, XM_011512962.1:c.345C>A, NM_001134422.2:c.*743C>A, NM_001134422.1:c.*743C>A, NM_001134423.2:c.*743C>A, NM_001134423.1:c.*743C>A, NM_001282762.2:c.342C>A, NM_001282762.1:c.342C>A, XM_047448520.1:c.*743C>A, NM_001282765.1:c.*743C>A, NM_001410823.1:c.645C>A, XM_047448524.1:c.345C>A, XM_047448523.1:c.345C>A, XM_047448525.1:c.345C>A, NM_001282763.1:c.342C>A, XP_005247645.1:p.Ser217Arg, XP_005247646.1:p.Ser216Arg, XP_005247647.1:p.Ser215Arg, XP_005247651.1:p.Ser114Arg, NP_060018.1:p.Ser216Arg, XP_005247649.1:p.Ser115Arg, XP_011511264.1:p.Ser115Arg, NP_001269691.1:p.Ser114Arg, XP_047304480.1:p.Ser115Arg, XP_047304479.1:p.Ser115Arg, XP_047304481.1:p.Ser115Arg, NP_001269692.1:p.Ser114Arg

                                    18.

                                    rs1384106726 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:133584002 (GRCh38)
                                      3:133302846 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:133584001:C:T
                                      Gene:
                                      CDV3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,intron_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.133584002C>T, NC_000003.11:g.133302846C>T, XM_005247588.6:c.318C>T, XM_005247588.5:c.318C>T, XM_005247588.4:c.318C>T, XM_005247588.3:c.318C>T, XM_005247588.2:c.318C>T, XM_005247588.1:c.318C>T, XM_005247591.6:c.318C>T, XM_005247591.5:c.318C>T, XM_005247591.4:c.318C>T, XM_005247591.3:c.318C>T, XM_005247591.2:c.318C>T, XM_005247591.1:c.318C>T, NM_017548.5:c.318C>T, NM_017548.4:c.318C>T, XM_005247592.5:c.12C>T, XM_005247592.4:c.12C>T, XM_005247592.3:c.12C>T, XM_005247592.2:c.12C>T, XM_005247592.1:c.12C>T, XM_011512961.4:c.318C>T, XM_011512961.3:c.318C>T, XM_011512961.2:c.318C>T, XM_011512961.1:c.318C>T, XM_011512962.3:c.12C>T, XM_011512962.2:c.12C>T, XM_011512962.1:c.12C>T, NM_001134422.2:c.318C>T, NM_001134422.1:c.318C>T, NM_001134423.2:c.12C>T, NM_001134423.1:c.12C>T, NM_001282762.2:c.12C>T, NM_001282762.1:c.12C>T, NM_001282765.1:c.12C>T, XM_047448524.1:c.12C>T, XM_047448523.1:c.12C>T, XM_047448525.1:c.12C>T, NM_001282763.1:c.12C>T, NM_001282764.1:c.12C>T

                                      19.

                                      rs1374062695 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        3:133584055 (GRCh38)
                                        3:133302899 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:133584054:G:T
                                        Gene:
                                        CDV3 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000028/1 (ALFA)
                                        T=0.000008/2 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000003.12:g.133584055G>T, NC_000003.11:g.133302899G>T, XM_005247588.6:c.371G>T, XM_005247588.5:c.371G>T, XM_005247588.4:c.371G>T, XM_005247588.3:c.371G>T, XM_005247588.2:c.371G>T, XM_005247588.1:c.371G>T, XM_005247589.6:c.368G>T, XM_005247589.5:c.368G>T, XM_005247589.4:c.368G>T, XM_005247589.3:c.368G>T, XM_005247589.2:c.368G>T, XM_005247589.1:c.368G>T, XM_005247590.6:c.368G>T, XM_005247591.6:c.371G>T, XM_005247591.5:c.371G>T, XM_005247591.4:c.371G>T, XM_005247591.3:c.371G>T, XM_005247591.2:c.371G>T, XM_005247591.1:c.371G>T, XM_005247594.6:c.62G>T, XM_005247594.5:c.62G>T, XM_005247594.4:c.62G>T, XM_005247594.3:c.62G>T, XM_005247594.2:c.62G>T, XM_005247594.1:c.62G>T, NM_017548.5:c.371G>T, NM_017548.4:c.371G>T, XM_005247592.5:c.65G>T, XM_005247592.4:c.65G>T, XM_005247592.3:c.65G>T, XM_005247592.2:c.65G>T, XM_005247592.1:c.65G>T, XM_011512961.4:c.371G>T, XM_011512961.3:c.371G>T, XM_011512961.2:c.371G>T, XM_011512961.1:c.371G>T, XM_011512962.3:c.65G>T, XM_011512962.2:c.65G>T, XM_011512962.1:c.65G>T, NM_001134422.2:c.371G>T, NM_001134422.1:c.371G>T, NM_001134423.2:c.65G>T, NM_001134423.1:c.65G>T, NM_001282762.2:c.65G>T, NM_001282762.1:c.65G>T, XM_047448520.1:c.368G>T, NM_001282765.1:c.65G>T, NM_001410823.1:c.368G>T, XM_047448524.1:c.65G>T, XM_047448523.1:c.65G>T, XM_047448521.1:c.368G>T, XM_047448525.1:c.65G>T, NM_001282763.1:c.65G>T, NM_001282764.1:c.65G>T, XP_005247645.1:p.Trp124Leu, XP_005247646.1:p.Trp123Leu, XP_005247647.1:p.Trp123Leu, XP_005247648.1:p.Trp124Leu, XP_005247651.1:p.Trp21Leu, NP_060018.1:p.Trp124Leu, XP_005247649.1:p.Trp22Leu, XP_011511263.1:p.Trp124Leu, XP_011511264.1:p.Trp22Leu, NP_001127894.1:p.Trp124Leu, NP_001127895.1:p.Trp22Leu, NP_001269691.1:p.Trp22Leu, XP_047304476.1:p.Trp123Leu, NP_001269694.1:p.Trp22Leu, XP_047304480.1:p.Trp22Leu, XP_047304479.1:p.Trp22Leu, XP_047304477.1:p.Trp123Leu, XP_047304481.1:p.Trp22Leu, NP_001269692.1:p.Trp22Leu, NP_001269693.1:p.Trp22Leu

                                        20.

                                        rs1370166671 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          3:133584043 (GRCh38)
                                          3:133302887 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:133584042:C:T
                                          Gene:
                                          CDV3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000003.12:g.133584043C>T, NC_000003.11:g.133302887C>T, XM_005247588.6:c.359C>T, XM_005247588.5:c.359C>T, XM_005247588.4:c.359C>T, XM_005247588.3:c.359C>T, XM_005247588.2:c.359C>T, XM_005247588.1:c.359C>T, XM_005247589.6:c.356C>T, XM_005247589.5:c.356C>T, XM_005247589.4:c.356C>T, XM_005247589.3:c.356C>T, XM_005247589.2:c.356C>T, XM_005247589.1:c.356C>T, XM_005247590.6:c.356C>T, XM_005247591.6:c.359C>T, XM_005247591.5:c.359C>T, XM_005247591.4:c.359C>T, XM_005247591.3:c.359C>T, XM_005247591.2:c.359C>T, XM_005247591.1:c.359C>T, XM_005247594.6:c.50C>T, XM_005247594.5:c.50C>T, XM_005247594.4:c.50C>T, XM_005247594.3:c.50C>T, XM_005247594.2:c.50C>T, XM_005247594.1:c.50C>T, NM_017548.5:c.359C>T, NM_017548.4:c.359C>T, XM_005247592.5:c.53C>T, XM_005247592.4:c.53C>T, XM_005247592.3:c.53C>T, XM_005247592.2:c.53C>T, XM_005247592.1:c.53C>T, XM_011512961.4:c.359C>T, XM_011512961.3:c.359C>T, XM_011512961.2:c.359C>T, XM_011512961.1:c.359C>T, XM_011512962.3:c.53C>T, XM_011512962.2:c.53C>T, XM_011512962.1:c.53C>T, NM_001134422.2:c.359C>T, NM_001134422.1:c.359C>T, NM_001134423.2:c.53C>T, NM_001134423.1:c.53C>T, NM_001282762.2:c.53C>T, NM_001282762.1:c.53C>T, XM_047448520.1:c.356C>T, NM_001282765.1:c.53C>T, NM_001410823.1:c.356C>T, XM_047448524.1:c.53C>T, XM_047448523.1:c.53C>T, XM_047448521.1:c.356C>T, XM_047448525.1:c.53C>T, NM_001282763.1:c.53C>T, NM_001282764.1:c.53C>T, XP_005247645.1:p.Pro120Leu, XP_005247646.1:p.Pro119Leu, XP_005247647.1:p.Pro119Leu, XP_005247648.1:p.Pro120Leu, XP_005247651.1:p.Pro17Leu, NP_060018.1:p.Pro120Leu, XP_005247649.1:p.Pro18Leu, XP_011511263.1:p.Pro120Leu, XP_011511264.1:p.Pro18Leu, NP_001127894.1:p.Pro120Leu, NP_001127895.1:p.Pro18Leu, NP_001269691.1:p.Pro18Leu, XP_047304476.1:p.Pro119Leu, NP_001269694.1:p.Pro18Leu, XP_047304480.1:p.Pro18Leu, XP_047304479.1:p.Pro18Leu, XP_047304477.1:p.Pro119Leu, XP_047304481.1:p.Pro18Leu, NP_001269692.1:p.Pro18Leu, NP_001269693.1:p.Pro18Leu

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