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Items: 1 to 20 of 841

1.

rs1490662517 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    22:24232099 (GRCh38)
    22:24628067 (GRCh37)
    Canonical SPDI:
    NC_000022.11:24232098:A:T
    Gene:
    GGT5 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000022.11:g.24232099A>T, NC_000022.10:g.24628067A>T, NM_004121.5:c.706T>A, NM_004121.4:c.706T>A, NM_004121.3:c.706T>A, NM_004121.2:c.706T>A, XM_005261557.4:c.706T>A, XM_005261557.3:c.706T>A, XM_005261557.2:c.706T>A, XM_005261557.1:c.706T>A, XM_005261558.4:c.706T>A, XM_005261558.3:c.706T>A, XM_005261558.2:c.706T>A, XM_005261558.1:c.706T>A, XM_011530137.4:c.706T>A, XM_011530137.3:c.706T>A, XM_011530137.2:c.706T>A, XM_011530137.1:c.706T>A, XM_011530133.3:c.706T>A, XM_011530133.2:c.706T>A, XM_011530133.1:c.706T>A, XM_011530136.3:c.706T>A, XM_011530136.2:c.706T>A, XM_011530136.1:c.706T>A, XM_011530134.3:c.706T>A, XM_011530134.2:c.706T>A, XM_011530134.1:c.706T>A, XM_011530135.3:c.610T>A, XM_011530135.2:c.610T>A, XM_011530135.1:c.610T>A, XM_017028768.3:c.610T>A, XM_017028768.2:c.610T>A, XM_017028768.1:c.610T>A, XM_017028769.3:c.610T>A, XM_017028769.2:c.610T>A, XM_017028769.1:c.610T>A, NM_001099781.2:c.706T>A, NM_001099781.1:c.706T>A, NM_001099782.2:c.610T>A, NM_001099782.1:c.610T>A, XM_047441329.1:c.706T>A, XM_047441328.1:c.706T>A, XM_047441330.1:c.706T>A, XM_047441331.1:c.610T>A, NM_001302464.1:c.610T>A, NM_001302465.1:c.475T>A, NP_004112.2:p.Tyr236Asn, XP_005261614.1:p.Tyr236Asn, XP_005261615.1:p.Tyr236Asn, XP_011528439.1:p.Tyr236Asn, XP_011528435.1:p.Tyr236Asn, XP_011528438.1:p.Tyr236Asn, XP_011528436.1:p.Tyr236Asn, XP_011528437.1:p.Tyr204Asn, XP_016884257.1:p.Tyr204Asn, XP_016884258.1:p.Tyr204Asn, NP_001093251.1:p.Tyr236Asn, NP_001093252.1:p.Tyr204Asn, XP_047297285.1:p.Tyr236Asn, XP_047297284.1:p.Tyr236Asn, XP_047297286.1:p.Tyr236Asn, XP_047297287.1:p.Tyr204Asn, NP_001289393.1:p.Tyr204Asn, NP_001289394.1:p.Tyr159Asn

    2.

    rs1490271537 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      22:24244960 (GRCh38)
      22:24640928 (GRCh37)
      Canonical SPDI:
      NC_000022.11:24244959:G:T
      Gene:
      GGT5 (Varview)
      Functional Consequence:
      5_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000022.11:g.24244960G>T, NC_000022.10:g.24640928G>T, NM_004121.5:c.-235C>A, NM_004121.4:c.-235C>A, NM_004121.3:c.-235C>A, NM_004121.2:c.-235C>A, XM_005261557.4:c.-235C>A, XM_005261557.3:c.-235C>A, XM_005261557.2:c.-235C>A, XM_005261557.1:c.-235C>A, XM_005261558.4:c.-235C>A, XM_005261558.3:c.-235C>A, XM_005261558.2:c.-235C>A, XM_005261558.1:c.-235C>A, XM_011530137.4:c.-235C>A, XM_011530137.3:c.-235C>A, XM_011530137.2:c.-235C>A, XM_011530137.1:c.-235C>A, XM_011530133.3:c.-235C>A, XM_011530133.2:c.-235C>A, XM_011530133.1:c.-235C>A, XM_011530136.3:c.-235C>A, XM_011530136.2:c.-235C>A, XM_011530136.1:c.-235C>A, XM_011530134.3:c.-235C>A, XM_011530134.2:c.-235C>A, XM_011530134.1:c.-235C>A, XM_011530135.3:c.-235C>A, XM_011530135.2:c.-235C>A, XM_011530135.1:c.-235C>A, XM_017028768.3:c.-235C>A, XM_017028768.2:c.-235C>A, XM_017028768.1:c.-235C>A, XM_017028769.3:c.-235C>A, XM_017028769.2:c.-235C>A, XM_017028769.1:c.-235C>A, NM_001099781.2:c.-235C>A, NM_001099781.1:c.-235C>A, NM_001099782.2:c.-235C>A, NM_001099782.1:c.-235C>A, XM_047441329.1:c.-235C>A, XM_047441328.1:c.-235C>A, XM_047441330.1:c.-235C>A, XM_047441331.1:c.-235C>A, NM_001302464.1:c.-235C>A, NM_001302465.1:c.-235C>A

      3.

      rs1489571334 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        22:24226691 (GRCh38)
        22:24622659 (GRCh37)
        Canonical SPDI:
        NC_000022.11:24226690:G:C
        Gene:
        GGT5 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        C=0.000008/2 (GnomAD_exomes)
        HGVS:
        NC_000022.11:g.24226691G>C, NC_000022.10:g.24622659G>C, NM_004121.5:c.978C>G, NM_004121.4:c.978C>G, NM_004121.3:c.978C>G, NM_004121.2:c.978C>G, XM_005261557.4:c.978C>G, XM_005261557.3:c.978C>G, XM_005261557.2:c.978C>G, XM_005261557.1:c.978C>G, XM_005261558.4:c.978C>G, XM_005261558.3:c.978C>G, XM_005261558.2:c.978C>G, XM_005261558.1:c.978C>G, XM_011530137.4:c.978C>G, XM_011530137.3:c.978C>G, XM_011530137.2:c.978C>G, XM_011530137.1:c.978C>G, XM_011530133.3:c.978C>G, XM_011530133.2:c.978C>G, XM_011530133.1:c.978C>G, XM_011530136.3:c.978C>G, XM_011530136.2:c.978C>G, XM_011530136.1:c.978C>G, XM_011530134.3:c.978C>G, XM_011530134.2:c.978C>G, XM_011530134.1:c.978C>G, XM_011530135.3:c.882C>G, XM_011530135.2:c.882C>G, XM_011530135.1:c.882C>G, XM_017028768.3:c.882C>G, XM_017028768.2:c.882C>G, XM_017028768.1:c.882C>G, XM_017028769.3:c.882C>G, XM_017028769.2:c.882C>G, XM_017028769.1:c.882C>G, NM_001099781.2:c.978C>G, NM_001099781.1:c.978C>G, NM_001099782.2:c.882C>G, NM_001099782.1:c.882C>G, XM_047441329.1:c.978C>G, XM_047441328.1:c.978C>G, XM_047441330.1:c.978C>G, XM_047441331.1:c.882C>G, NM_001302464.1:c.882C>G, NM_001302465.1:c.747C>G

        4.

        rs1489540690 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          22:24232139 (GRCh38)
          22:24628107 (GRCh37)
          Canonical SPDI:
          NC_000022.11:24232138:G:T
          Gene:
          GGT5 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          T=0.000009/2 (GnomAD_exomes)
          HGVS:
          NC_000022.11:g.24232139G>T, NC_000022.10:g.24628107G>T, NM_004121.5:c.666C>A, NM_004121.4:c.666C>A, NM_004121.3:c.666C>A, NM_004121.2:c.666C>A, XM_005261557.4:c.666C>A, XM_005261557.3:c.666C>A, XM_005261557.2:c.666C>A, XM_005261557.1:c.666C>A, XM_005261558.4:c.666C>A, XM_005261558.3:c.666C>A, XM_005261558.2:c.666C>A, XM_005261558.1:c.666C>A, XM_011530137.4:c.666C>A, XM_011530137.3:c.666C>A, XM_011530137.2:c.666C>A, XM_011530137.1:c.666C>A, XM_011530133.3:c.666C>A, XM_011530133.2:c.666C>A, XM_011530133.1:c.666C>A, XM_011530136.3:c.666C>A, XM_011530136.2:c.666C>A, XM_011530136.1:c.666C>A, XM_011530134.3:c.666C>A, XM_011530134.2:c.666C>A, XM_011530134.1:c.666C>A, XM_011530135.3:c.570C>A, XM_011530135.2:c.570C>A, XM_011530135.1:c.570C>A, XM_017028768.3:c.570C>A, XM_017028768.2:c.570C>A, XM_017028768.1:c.570C>A, XM_017028769.3:c.570C>A, XM_017028769.2:c.570C>A, XM_017028769.1:c.570C>A, NM_001099781.2:c.666C>A, NM_001099781.1:c.666C>A, NM_001099782.2:c.570C>A, NM_001099782.1:c.570C>A, XM_047441329.1:c.666C>A, XM_047441328.1:c.666C>A, XM_047441330.1:c.666C>A, XM_047441331.1:c.570C>A, NM_001302464.1:c.570C>A, NM_001302465.1:c.435C>A

          5.

          rs1488934199 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            22:24244681 (GRCh38)
            22:24640649 (GRCh37)
            Canonical SPDI:
            NC_000022.11:24244680:A:C
            Gene:
            GGT5 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            C=0.031849/93 (KOREAN)
            HGVS:
            NC_000022.11:g.24244681A>C, NC_000022.10:g.24640649A>C, NM_004121.5:c.45T>G, NM_004121.4:c.45T>G, NM_004121.3:c.45T>G, NM_004121.2:c.45T>G, XM_005261557.4:c.45T>G, XM_005261557.3:c.45T>G, XM_005261557.2:c.45T>G, XM_005261557.1:c.45T>G, XM_005261558.4:c.45T>G, XM_005261558.3:c.45T>G, XM_005261558.2:c.45T>G, XM_005261558.1:c.45T>G, XM_011530137.4:c.45T>G, XM_011530137.3:c.45T>G, XM_011530137.2:c.45T>G, XM_011530137.1:c.45T>G, XM_011530133.3:c.45T>G, XM_011530133.2:c.45T>G, XM_011530133.1:c.45T>G, XM_011530136.3:c.45T>G, XM_011530136.2:c.45T>G, XM_011530136.1:c.45T>G, XM_011530134.3:c.45T>G, XM_011530134.2:c.45T>G, XM_011530134.1:c.45T>G, XM_011530135.3:c.45T>G, XM_011530135.2:c.45T>G, XM_011530135.1:c.45T>G, XM_017028768.3:c.45T>G, XM_017028768.2:c.45T>G, XM_017028768.1:c.45T>G, XM_017028769.3:c.45T>G, XM_017028769.2:c.45T>G, XM_017028769.1:c.45T>G, NM_001099781.2:c.45T>G, NM_001099781.1:c.45T>G, NM_001099782.2:c.45T>G, NM_001099782.1:c.45T>G, XM_047441329.1:c.45T>G, XM_047441328.1:c.45T>G, XM_047441330.1:c.45T>G, XM_047441331.1:c.45T>G, NM_001302464.1:c.45T>G, NM_001302465.1:c.45T>G

            6.

            rs1488854447 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C,T [Show Flanks]
              Chromosome:
              22:24219787 (GRCh38)
              22:24615755 (GRCh37)
              Canonical SPDI:
              NC_000022.11:24219786:G:C,NC_000022.11:24219786:G:T
              Gene:
              GGT5 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000022.11:g.24219787G>C, NC_000022.11:g.24219787G>T, NC_000022.10:g.24615755G>C, NC_000022.10:g.24615755G>T, NM_004121.5:c.*183C>G, NM_004121.5:c.*183C>A, NM_004121.4:c.*183C>G, NM_004121.4:c.*183C>A, NM_004121.3:c.*183C>G, NM_004121.3:c.*183C>A, NM_004121.2:c.*183C>G, NM_004121.2:c.*183C>A, XM_005261557.4:c.*183C>G, XM_005261557.4:c.*183C>A, XM_005261557.3:c.*183C>G, XM_005261557.3:c.*183C>A, XM_005261557.2:c.*183C>G, XM_005261557.2:c.*183C>A, XM_005261557.1:c.*183C>G, XM_005261557.1:c.*183C>A, XM_005261558.4:c.*183C>G, XM_005261558.4:c.*183C>A, XM_005261558.3:c.*183C>G, XM_005261558.3:c.*183C>A, XM_005261558.2:c.*183C>G, XM_005261558.2:c.*183C>A, XM_005261558.1:c.*183C>G, XM_005261558.1:c.*183C>A, XM_011530133.3:c.*183C>G, XM_011530133.3:c.*183C>A, XM_011530133.2:c.*183C>G, XM_011530133.2:c.*183C>A, XM_011530133.1:c.*183C>G, XM_011530133.1:c.*183C>A, XM_011530136.3:c.*338C>G, XM_011530136.3:c.*338C>A, XM_011530136.2:c.*338C>G, XM_011530136.2:c.*338C>A, XM_011530136.1:c.*338C>G, XM_011530136.1:c.*338C>A, XM_011530134.3:c.*183C>G, XM_011530134.3:c.*183C>A, XM_011530134.2:c.*183C>G, XM_011530134.2:c.*183C>A, XM_011530134.1:c.*183C>G, XM_011530134.1:c.*183C>A, XM_011530135.3:c.*183C>G, XM_011530135.3:c.*183C>A, XM_011530135.2:c.*183C>G, XM_011530135.2:c.*183C>A, XM_011530135.1:c.*183C>G, XM_011530135.1:c.*183C>A, XM_017028768.3:c.*183C>G, XM_017028768.3:c.*183C>A, XM_017028768.2:c.*183C>G, XM_017028768.2:c.*183C>A, XM_017028768.1:c.*183C>G, XM_017028768.1:c.*183C>A, XM_017028769.3:c.*183C>G, XM_017028769.3:c.*183C>A, XM_017028769.2:c.*183C>G, XM_017028769.2:c.*183C>A, XM_017028769.1:c.*183C>G, XM_017028769.1:c.*183C>A, NM_001099781.2:c.*183C>G, NM_001099781.2:c.*183C>A, NM_001099781.1:c.*183C>G, NM_001099781.1:c.*183C>A, NM_001099782.2:c.*183C>G, NM_001099782.2:c.*183C>A, NM_001099782.1:c.*183C>G, NM_001099782.1:c.*183C>A, XM_047441329.1:c.*713C>G, XM_047441329.1:c.*713C>A, XM_047441328.1:c.*352C>G, XM_047441328.1:c.*352C>A, XM_047441330.1:c.*352C>G, XM_047441330.1:c.*352C>A, XM_047441331.1:c.*352C>G, XM_047441331.1:c.*352C>A, NM_001302464.1:c.*338C>G, NM_001302464.1:c.*338C>A, NM_001302465.1:c.*183C>G, NM_001302465.1:c.*183C>A

              7.

              rs1487622725 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                22:24225614 (GRCh38)
                22:24621583 (GRCh37)
                Canonical SPDI:
                NC_000022.11:24225614:T:TT
                Gene:
                GGT5 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000022.11:g.24225615dup, NC_000022.10:g.24621583dup, NM_004121.5:c.1267dup, NM_004121.4:c.1267dup, NM_004121.3:c.1267dup, NM_004121.2:c.1267dup, XM_005261557.4:c.1267dup, XM_005261557.3:c.1267dup, XM_005261557.2:c.1267dup, XM_005261557.1:c.1267dup, XM_005261558.4:c.1267dup, XM_005261558.3:c.1267dup, XM_005261558.2:c.1267dup, XM_005261558.1:c.1267dup, XM_011530137.4:c.1267dup, XM_011530137.3:c.1267dup, XM_011530137.2:c.1267dup, XM_011530137.1:c.1267dup, XM_011530133.3:c.1267dup, XM_011530133.2:c.1267dup, XM_011530133.1:c.1267dup, XM_011530136.3:c.1267dup, XM_011530136.2:c.1267dup, XM_011530136.1:c.1267dup, XM_011530134.3:c.1267dup, XM_011530134.2:c.1267dup, XM_011530134.1:c.1267dup, XM_011530135.3:c.1171dup, XM_011530135.2:c.1171dup, XM_011530135.1:c.1171dup, XM_017028768.3:c.1171dup, XM_017028768.2:c.1171dup, XM_017028768.1:c.1171dup, XM_017028769.3:c.1171dup, XM_017028769.2:c.1171dup, XM_017028769.1:c.1171dup, NM_001099781.2:c.1267dup, NM_001099781.1:c.1267dup, NM_001099782.2:c.1171dup, NM_001099782.1:c.1171dup, XM_047441329.1:c.1267dup, XM_047441328.1:c.1267dup, XM_047441330.1:c.1267dup, XM_047441331.1:c.1171dup, NM_001302464.1:c.1171dup, NM_001302465.1:c.1036dup, NP_004112.2:p.Ile423fs, XP_005261614.1:p.Ile423fs, XP_005261615.1:p.Ile423fs, XP_011528439.1:p.Ile423fs, XP_011528435.1:p.Ile423fs, XP_011528438.1:p.Ile423fs, XP_011528436.1:p.Ile423fs, XP_011528437.1:p.Ile391fs, XP_016884257.1:p.Ile391fs, XP_016884258.1:p.Ile391fs, NP_001093251.1:p.Ile423fs, NP_001093252.1:p.Ile391fs, XP_047297285.1:p.Ile423fs, XP_047297284.1:p.Ile423fs, XP_047297286.1:p.Ile423fs, XP_047297287.1:p.Ile391fs, NP_001289393.1:p.Ile391fs, NP_001289394.1:p.Ile346fs

                8.

                rs1486959689 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  22:24244726 (GRCh38)
                  22:24640694 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:24244725:G:T
                  Gene:
                  GGT5 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  T=0.000013/3 (GnomAD_exomes)
                  HGVS:
                  NC_000022.11:g.24244726G>T, NC_000022.10:g.24640694G>T, NM_004121.5:c.-1C>A, NM_004121.4:c.-1C>A, NM_004121.3:c.-1C>A, NM_004121.2:c.-1C>A, XM_005261557.4:c.-1C>A, XM_005261557.3:c.-1C>A, XM_005261557.2:c.-1C>A, XM_005261557.1:c.-1C>A, XM_005261558.4:c.-1C>A, XM_005261558.3:c.-1C>A, XM_005261558.2:c.-1C>A, XM_005261558.1:c.-1C>A, XM_011530137.4:c.-1C>A, XM_011530137.3:c.-1C>A, XM_011530137.2:c.-1C>A, XM_011530137.1:c.-1C>A, XM_011530133.3:c.-1C>A, XM_011530133.2:c.-1C>A, XM_011530133.1:c.-1C>A, XM_011530136.3:c.-1C>A, XM_011530136.2:c.-1C>A, XM_011530136.1:c.-1C>A, XM_011530134.3:c.-1C>A, XM_011530134.2:c.-1C>A, XM_011530134.1:c.-1C>A, XM_011530135.3:c.-1C>A, XM_011530135.2:c.-1C>A, XM_011530135.1:c.-1C>A, XM_017028768.3:c.-1C>A, XM_017028768.2:c.-1C>A, XM_017028768.1:c.-1C>A, XM_017028769.3:c.-1C>A, XM_017028769.2:c.-1C>A, XM_017028769.1:c.-1C>A, NM_001099781.2:c.-1C>A, NM_001099781.1:c.-1C>A, NM_001099782.2:c.-1C>A, NM_001099782.1:c.-1C>A, XM_047441329.1:c.-1C>A, XM_047441328.1:c.-1C>A, XM_047441330.1:c.-1C>A, XM_047441331.1:c.-1C>A, NM_001302464.1:c.-1C>A, NM_001302465.1:c.-1C>A

                  9.

                  rs1486880254 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TA [Show Flanks]
                    Chromosome:
                    22:24244813 (GRCh38)
                    22:24640782 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:24244813:A:ATA
                    Gene:
                    GGT5 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant
                    HGVS:
                    NC_000022.11:g.24244814_24244815insTA, NC_000022.10:g.24640782_24640783insTA, NM_004121.5:c.-89_-88insAT, NM_004121.4:c.-89_-88insAT, NM_004121.3:c.-89_-88insAT, NM_004121.2:c.-89_-88insAT, XM_005261557.4:c.-89_-88insAT, XM_005261557.3:c.-89_-88insAT, XM_005261557.2:c.-89_-88insAT, XM_005261557.1:c.-89_-88insAT, XM_005261558.4:c.-89_-88insAT, XM_005261558.3:c.-89_-88insAT, XM_005261558.2:c.-89_-88insAT, XM_005261558.1:c.-89_-88insAT, XM_011530137.4:c.-89_-88insAT, XM_011530137.3:c.-89_-88insAT, XM_011530137.2:c.-89_-88insAT, XM_011530137.1:c.-89_-88insAT, XM_011530133.3:c.-89_-88insAT, XM_011530133.2:c.-89_-88insAT, XM_011530133.1:c.-89_-88insAT, XM_011530136.3:c.-89_-88insAT, XM_011530136.2:c.-89_-88insAT, XM_011530136.1:c.-89_-88insAT, XM_011530134.3:c.-89_-88insAT, XM_011530134.2:c.-89_-88insAT, XM_011530134.1:c.-89_-88insAT, XM_011530135.3:c.-89_-88insAT, XM_011530135.2:c.-89_-88insAT, XM_011530135.1:c.-89_-88insAT, XM_017028768.3:c.-89_-88insAT, XM_017028768.2:c.-89_-88insAT, XM_017028768.1:c.-89_-88insAT, XM_017028769.3:c.-89_-88insAT, XM_017028769.2:c.-89_-88insAT, XM_017028769.1:c.-89_-88insAT, NM_001099781.2:c.-89_-88insAT, NM_001099781.1:c.-89_-88insAT, NM_001099782.2:c.-89_-88insAT, NM_001099782.1:c.-89_-88insAT, XM_047441329.1:c.-89_-88insAT, XM_047441328.1:c.-89_-88insAT, XM_047441330.1:c.-89_-88insAT, XM_047441331.1:c.-89_-88insAT, NM_001302464.1:c.-89_-88insAT, NM_001302465.1:c.-89_-88insAT

                    10.

                    rs1482564230 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:24244622 (GRCh38)
                      22:24640590 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:24244621:G:A
                      Gene:
                      GGT5 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      HGVS:
                      NC_000022.11:g.24244622G>A, NC_000022.10:g.24640590G>A, NM_004121.5:c.104C>T, NM_004121.4:c.104C>T, NM_004121.3:c.104C>T, NM_004121.2:c.104C>T, XM_005261557.4:c.104C>T, XM_005261557.3:c.104C>T, XM_005261557.2:c.104C>T, XM_005261557.1:c.104C>T, XM_005261558.4:c.104C>T, XM_005261558.3:c.104C>T, XM_005261558.2:c.104C>T, XM_005261558.1:c.104C>T, XM_011530137.4:c.104C>T, XM_011530137.3:c.104C>T, XM_011530137.2:c.104C>T, XM_011530137.1:c.104C>T, XM_011530133.3:c.104C>T, XM_011530133.2:c.104C>T, XM_011530133.1:c.104C>T, XM_011530136.3:c.104C>T, XM_011530136.2:c.104C>T, XM_011530136.1:c.104C>T, XM_011530134.3:c.104C>T, XM_011530134.2:c.104C>T, XM_011530134.1:c.104C>T, XM_011530135.3:c.104C>T, XM_011530135.2:c.104C>T, XM_011530135.1:c.104C>T, XM_017028768.3:c.104C>T, XM_017028768.2:c.104C>T, XM_017028768.1:c.104C>T, XM_017028769.3:c.104C>T, XM_017028769.2:c.104C>T, XM_017028769.1:c.104C>T, NM_001099781.2:c.104C>T, NM_001099781.1:c.104C>T, NM_001099782.2:c.104C>T, NM_001099782.1:c.104C>T, XM_047441329.1:c.104C>T, XM_047441328.1:c.104C>T, XM_047441330.1:c.104C>T, XM_047441331.1:c.104C>T, NM_001302464.1:c.104C>T, NM_001302465.1:c.104C>T, NP_004112.2:p.Pro35Leu, XP_005261614.1:p.Pro35Leu, XP_005261615.1:p.Pro35Leu, XP_011528439.1:p.Pro35Leu, XP_011528435.1:p.Pro35Leu, XP_011528438.1:p.Pro35Leu, XP_011528436.1:p.Pro35Leu, XP_011528437.1:p.Pro35Leu, XP_016884257.1:p.Pro35Leu, XP_016884258.1:p.Pro35Leu, NP_001093251.1:p.Pro35Leu, NP_001093252.1:p.Pro35Leu, XP_047297285.1:p.Pro35Leu, XP_047297284.1:p.Pro35Leu, XP_047297286.1:p.Pro35Leu, XP_047297287.1:p.Pro35Leu, NP_001289393.1:p.Pro35Leu, NP_001289394.1:p.Pro35Leu

                      11.

                      rs1482515079 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        22:24232998 (GRCh38)
                        22:24628966 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:24232997:G:A
                        Gene:
                        GGT5 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000022.11:g.24232998G>A, NC_000022.10:g.24628966G>A, NM_004121.5:c.421C>T, NM_004121.4:c.421C>T, NM_004121.3:c.421C>T, NM_004121.2:c.421C>T, XM_005261557.4:c.421C>T, XM_005261557.3:c.421C>T, XM_005261557.2:c.421C>T, XM_005261557.1:c.421C>T, XM_005261558.4:c.421C>T, XM_005261558.3:c.421C>T, XM_005261558.2:c.421C>T, XM_005261558.1:c.421C>T, XM_011530137.4:c.421C>T, XM_011530137.3:c.421C>T, XM_011530137.2:c.421C>T, XM_011530137.1:c.421C>T, XM_011530133.3:c.421C>T, XM_011530133.2:c.421C>T, XM_011530133.1:c.421C>T, XM_011530136.3:c.421C>T, XM_011530136.2:c.421C>T, XM_011530136.1:c.421C>T, XM_011530134.3:c.421C>T, XM_011530134.2:c.421C>T, XM_011530134.1:c.421C>T, XM_011530135.3:c.325C>T, XM_011530135.2:c.325C>T, XM_011530135.1:c.325C>T, XM_017028768.3:c.325C>T, XM_017028768.2:c.325C>T, XM_017028768.1:c.325C>T, XM_017028769.3:c.325C>T, XM_017028769.2:c.325C>T, XM_017028769.1:c.325C>T, NM_001099781.2:c.421C>T, NM_001099781.1:c.421C>T, NM_001099782.2:c.325C>T, NM_001099782.1:c.325C>T, XM_047441329.1:c.421C>T, XM_047441328.1:c.421C>T, XM_047441330.1:c.421C>T, XM_047441331.1:c.325C>T, NM_001302464.1:c.325C>T, NM_001302465.1:c.194C>T, NP_004112.2:p.Pro141Ser, XP_005261614.1:p.Pro141Ser, XP_005261615.1:p.Pro141Ser, XP_011528439.1:p.Pro141Ser, XP_011528435.1:p.Pro141Ser, XP_011528438.1:p.Pro141Ser, XP_011528436.1:p.Pro141Ser, XP_011528437.1:p.Pro109Ser, XP_016884257.1:p.Pro109Ser, XP_016884258.1:p.Pro109Ser, NP_001093251.1:p.Pro141Ser, NP_001093252.1:p.Pro109Ser, XP_047297285.1:p.Pro141Ser, XP_047297284.1:p.Pro141Ser, XP_047297286.1:p.Pro141Ser, XP_047297287.1:p.Pro109Ser, NP_001289393.1:p.Pro109Ser, NP_001289394.1:p.Ala65Val

                        12.

                        rs1480333655 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          22:24245037 (GRCh38)
                          22:24641005 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:24245036:C:A,NC_000022.11:24245036:C:G,NC_000022.11:24245036:C:T
                          Gene:
                          GGT5 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000022.11:g.24245037C>A, NC_000022.11:g.24245037C>G, NC_000022.11:g.24245037C>T, NC_000022.10:g.24641005C>A, NC_000022.10:g.24641005C>G, NC_000022.10:g.24641005C>T, NM_004121.5:c.-312G>T, NM_004121.5:c.-312G>C, NM_004121.5:c.-312G>A, NM_004121.4:c.-312G>T, NM_004121.4:c.-312G>C, NM_004121.4:c.-312G>A, NM_004121.3:c.-312G>T, NM_004121.3:c.-312G>C, NM_004121.3:c.-312G>A, NM_004121.2:c.-312G>T, NM_004121.2:c.-312G>C, NM_004121.2:c.-312G>A, XM_005261557.4:c.-312G>T, XM_005261557.4:c.-312G>C, XM_005261557.4:c.-312G>A, XM_005261557.3:c.-312G>T, XM_005261557.3:c.-312G>C, XM_005261557.3:c.-312G>A, XM_005261557.2:c.-312G>T, XM_005261557.2:c.-312G>C, XM_005261557.2:c.-312G>A, XM_005261557.1:c.-312G>T, XM_005261557.1:c.-312G>C, XM_005261557.1:c.-312G>A, XM_005261558.4:c.-312G>T, XM_005261558.4:c.-312G>C, XM_005261558.4:c.-312G>A, XM_005261558.3:c.-312G>T, XM_005261558.3:c.-312G>C, XM_005261558.3:c.-312G>A, XM_005261558.2:c.-312G>T, XM_005261558.2:c.-312G>C, XM_005261558.2:c.-312G>A, XM_005261558.1:c.-312G>T, XM_005261558.1:c.-312G>C, XM_005261558.1:c.-312G>A, XM_011530137.4:c.-312G>T, XM_011530137.4:c.-312G>C, XM_011530137.4:c.-312G>A, XM_011530137.3:c.-312G>T, XM_011530137.3:c.-312G>C, XM_011530137.3:c.-312G>A, XM_011530137.2:c.-312G>T, XM_011530137.2:c.-312G>C, XM_011530137.2:c.-312G>A, XM_011530137.1:c.-312G>T, XM_011530137.1:c.-312G>C, XM_011530137.1:c.-312G>A, XM_011530133.3:c.-312G>T, XM_011530133.3:c.-312G>C, XM_011530133.3:c.-312G>A, XM_011530133.2:c.-312G>T, XM_011530133.2:c.-312G>C, XM_011530133.2:c.-312G>A, XM_011530133.1:c.-312G>T, XM_011530133.1:c.-312G>C, XM_011530133.1:c.-312G>A, XM_011530136.3:c.-312G>T, XM_011530136.3:c.-312G>C, XM_011530136.3:c.-312G>A, XM_011530136.2:c.-312G>T, XM_011530136.2:c.-312G>C, XM_011530136.2:c.-312G>A, XM_011530136.1:c.-312G>T, XM_011530136.1:c.-312G>C, XM_011530136.1:c.-312G>A, XM_011530134.3:c.-312G>T, XM_011530134.3:c.-312G>C, XM_011530134.3:c.-312G>A, XM_011530134.2:c.-312G>T, XM_011530134.2:c.-312G>C, XM_011530134.2:c.-312G>A, XM_011530134.1:c.-312G>T, XM_011530134.1:c.-312G>C, XM_011530134.1:c.-312G>A, XM_011530135.3:c.-312G>T, XM_011530135.3:c.-312G>C, XM_011530135.3:c.-312G>A, XM_011530135.2:c.-312G>T, XM_011530135.2:c.-312G>C, XM_011530135.2:c.-312G>A, XM_011530135.1:c.-312G>T, XM_011530135.1:c.-312G>C, XM_011530135.1:c.-312G>A, XM_017028768.3:c.-312G>T, XM_017028768.3:c.-312G>C, XM_017028768.3:c.-312G>A, XM_017028768.2:c.-312G>T, XM_017028768.2:c.-312G>C, XM_017028768.2:c.-312G>A, XM_017028768.1:c.-312G>T, XM_017028768.1:c.-312G>C, XM_017028768.1:c.-312G>A, XM_017028769.3:c.-312G>T, XM_017028769.3:c.-312G>C, XM_017028769.3:c.-312G>A, XM_017028769.2:c.-312G>T, XM_017028769.2:c.-312G>C, XM_017028769.2:c.-312G>A, XM_017028769.1:c.-312G>T, XM_017028769.1:c.-312G>C, XM_017028769.1:c.-312G>A, NM_001099781.2:c.-312G>T, NM_001099781.2:c.-312G>C, NM_001099781.2:c.-312G>A, NM_001099781.1:c.-312G>T, NM_001099781.1:c.-312G>C, NM_001099781.1:c.-312G>A, NM_001099782.2:c.-312G>T, NM_001099782.2:c.-312G>C, NM_001099782.2:c.-312G>A, NM_001099782.1:c.-312G>T, NM_001099782.1:c.-312G>C, NM_001099782.1:c.-312G>A, XM_047441329.1:c.-312G>T, XM_047441329.1:c.-312G>C, XM_047441329.1:c.-312G>A, XM_047441328.1:c.-312G>T, XM_047441328.1:c.-312G>C, XM_047441328.1:c.-312G>A, XM_047441330.1:c.-312G>T, XM_047441330.1:c.-312G>C, XM_047441330.1:c.-312G>A, XM_047441331.1:c.-312G>T, XM_047441331.1:c.-312G>C, XM_047441331.1:c.-312G>A, NM_001302464.1:c.-312G>T, NM_001302464.1:c.-312G>C, NM_001302464.1:c.-312G>A, NM_001302465.1:c.-312G>T, NM_001302465.1:c.-312G>C, NM_001302465.1:c.-312G>A

                          13.

                          rs1480114474 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            22:24244834 (GRCh38)
                            22:24640802 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:24244833:A:G
                            Gene:
                            GGT5 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000011/3 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000022.11:g.24244834A>G, NC_000022.10:g.24640802A>G, NM_004121.5:c.-109T>C, NM_004121.4:c.-109T>C, NM_004121.3:c.-109T>C, NM_004121.2:c.-109T>C, XM_005261557.4:c.-109T>C, XM_005261557.3:c.-109T>C, XM_005261557.2:c.-109T>C, XM_005261557.1:c.-109T>C, XM_005261558.4:c.-109T>C, XM_005261558.3:c.-109T>C, XM_005261558.2:c.-109T>C, XM_005261558.1:c.-109T>C, XM_011530137.4:c.-109T>C, XM_011530137.3:c.-109T>C, XM_011530137.2:c.-109T>C, XM_011530137.1:c.-109T>C, XM_011530133.3:c.-109T>C, XM_011530133.2:c.-109T>C, XM_011530133.1:c.-109T>C, XM_011530136.3:c.-109T>C, XM_011530136.2:c.-109T>C, XM_011530136.1:c.-109T>C, XM_011530134.3:c.-109T>C, XM_011530134.2:c.-109T>C, XM_011530134.1:c.-109T>C, XM_011530135.3:c.-109T>C, XM_011530135.2:c.-109T>C, XM_011530135.1:c.-109T>C, XM_017028768.3:c.-109T>C, XM_017028768.2:c.-109T>C, XM_017028768.1:c.-109T>C, XM_017028769.3:c.-109T>C, XM_017028769.2:c.-109T>C, XM_017028769.1:c.-109T>C, NM_001099781.2:c.-109T>C, NM_001099781.1:c.-109T>C, NM_001099782.2:c.-109T>C, NM_001099782.1:c.-109T>C, XM_047441329.1:c.-109T>C, XM_047441328.1:c.-109T>C, XM_047441330.1:c.-109T>C, XM_047441331.1:c.-109T>C, NM_001302464.1:c.-109T>C, NM_001302465.1:c.-109T>C

                            14.

                            rs1479701516 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:24226651 (GRCh38)
                              22:24622619 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:24226650:G:A
                              Gene:
                              GGT5 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,stop_gained
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000022.11:g.24226651G>A, NC_000022.10:g.24622619G>A, NM_004121.5:c.1018C>T, NM_004121.4:c.1018C>T, NM_004121.3:c.1018C>T, NM_004121.2:c.1018C>T, XM_005261557.4:c.1018C>T, XM_005261557.3:c.1018C>T, XM_005261557.2:c.1018C>T, XM_005261557.1:c.1018C>T, XM_005261558.4:c.1018C>T, XM_005261558.3:c.1018C>T, XM_005261558.2:c.1018C>T, XM_005261558.1:c.1018C>T, XM_011530137.4:c.1018C>T, XM_011530137.3:c.1018C>T, XM_011530137.2:c.1018C>T, XM_011530137.1:c.1018C>T, XM_011530133.3:c.1018C>T, XM_011530133.2:c.1018C>T, XM_011530133.1:c.1018C>T, XM_011530136.3:c.1018C>T, XM_011530136.2:c.1018C>T, XM_011530136.1:c.1018C>T, XM_011530134.3:c.1018C>T, XM_011530134.2:c.1018C>T, XM_011530134.1:c.1018C>T, XM_011530135.3:c.922C>T, XM_011530135.2:c.922C>T, XM_011530135.1:c.922C>T, XM_017028768.3:c.922C>T, XM_017028768.2:c.922C>T, XM_017028768.1:c.922C>T, XM_017028769.3:c.922C>T, XM_017028769.2:c.922C>T, XM_017028769.1:c.922C>T, NM_001099781.2:c.1018C>T, NM_001099781.1:c.1018C>T, NM_001099782.2:c.922C>T, NM_001099782.1:c.922C>T, XM_047441329.1:c.1018C>T, XM_047441328.1:c.1018C>T, XM_047441330.1:c.1018C>T, XM_047441331.1:c.922C>T, NM_001302464.1:c.922C>T, NM_001302465.1:c.787C>T, NP_004112.2:p.Arg340Ter, XP_005261614.1:p.Arg340Ter, XP_005261615.1:p.Arg340Ter, XP_011528439.1:p.Arg340Ter, XP_011528435.1:p.Arg340Ter, XP_011528438.1:p.Arg340Ter, XP_011528436.1:p.Arg340Ter, XP_011528437.1:p.Arg308Ter, XP_016884257.1:p.Arg308Ter, XP_016884258.1:p.Arg308Ter, NP_001093251.1:p.Arg340Ter, NP_001093252.1:p.Arg308Ter, XP_047297285.1:p.Arg340Ter, XP_047297284.1:p.Arg340Ter, XP_047297286.1:p.Arg340Ter, XP_047297287.1:p.Arg308Ter, NP_001289393.1:p.Arg308Ter, NP_001289394.1:p.Arg263Ter

                              15.

                              rs1479399858 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:24231407 (GRCh38)
                                22:24627375 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:24231406:C:T
                                Gene:
                                GGT5 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000022.11:g.24231407C>T, NC_000022.10:g.24627375C>T, NM_004121.5:c.878G>A, NM_004121.4:c.878G>A, NM_004121.3:c.878G>A, NM_004121.2:c.878G>A, XM_005261557.4:c.878G>A, XM_005261557.3:c.878G>A, XM_005261557.2:c.878G>A, XM_005261557.1:c.878G>A, XM_005261558.4:c.878G>A, XM_005261558.3:c.878G>A, XM_005261558.2:c.878G>A, XM_005261558.1:c.878G>A, XM_011530137.4:c.878G>A, XM_011530137.3:c.878G>A, XM_011530137.2:c.878G>A, XM_011530137.1:c.878G>A, XM_011530133.3:c.878G>A, XM_011530133.2:c.878G>A, XM_011530133.1:c.878G>A, XM_011530136.3:c.878G>A, XM_011530136.2:c.878G>A, XM_011530136.1:c.878G>A, XM_011530134.3:c.878G>A, XM_011530134.2:c.878G>A, XM_011530134.1:c.878G>A, XM_011530135.3:c.782G>A, XM_011530135.2:c.782G>A, XM_011530135.1:c.782G>A, XM_017028768.3:c.782G>A, XM_017028768.2:c.782G>A, XM_017028768.1:c.782G>A, XM_017028769.3:c.782G>A, XM_017028769.2:c.782G>A, XM_017028769.1:c.782G>A, NM_001099781.2:c.878G>A, NM_001099781.1:c.878G>A, NM_001099782.2:c.782G>A, NM_001099782.1:c.782G>A, XM_047441329.1:c.878G>A, XM_047441328.1:c.878G>A, XM_047441330.1:c.878G>A, XM_047441331.1:c.782G>A, NM_001302464.1:c.782G>A, NM_001302465.1:c.647G>A, NP_004112.2:p.Ser293Asn, XP_005261614.1:p.Ser293Asn, XP_005261615.1:p.Ser293Asn, XP_011528439.1:p.Ser293Asn, XP_011528435.1:p.Ser293Asn, XP_011528438.1:p.Ser293Asn, XP_011528436.1:p.Ser293Asn, XP_011528437.1:p.Ser261Asn, XP_016884257.1:p.Ser261Asn, XP_016884258.1:p.Ser261Asn, NP_001093251.1:p.Ser293Asn, NP_001093252.1:p.Ser261Asn, XP_047297285.1:p.Ser293Asn, XP_047297284.1:p.Ser293Asn, XP_047297286.1:p.Ser293Asn, XP_047297287.1:p.Ser261Asn, NP_001289393.1:p.Ser261Asn, NP_001289394.1:p.Ser216Asn

                                16.

                                rs1478461469 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  22:24245044 (GRCh38)
                                  22:24641012 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:24245043:G:A,NC_000022.11:24245043:G:C
                                  Gene:
                                  GGT5 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000022.11:g.24245044G>A, NC_000022.11:g.24245044G>C, NC_000022.10:g.24641012G>A, NC_000022.10:g.24641012G>C, NM_004121.5:c.-319C>T, NM_004121.5:c.-319C>G, NM_004121.4:c.-319C>T, NM_004121.4:c.-319C>G, NM_004121.3:c.-319C>T, NM_004121.3:c.-319C>G, NM_004121.2:c.-319C>T, NM_004121.2:c.-319C>G, XM_005261557.4:c.-319C>T, XM_005261557.4:c.-319C>G, XM_005261557.3:c.-319C>T, XM_005261557.3:c.-319C>G, XM_005261557.2:c.-319C>T, XM_005261557.2:c.-319C>G, XM_005261557.1:c.-319C>T, XM_005261557.1:c.-319C>G, XM_005261558.4:c.-319C>T, XM_005261558.4:c.-319C>G, XM_005261558.3:c.-319C>T, XM_005261558.3:c.-319C>G, XM_005261558.2:c.-319C>T, XM_005261558.2:c.-319C>G, XM_005261558.1:c.-319C>T, XM_005261558.1:c.-319C>G, XM_011530137.4:c.-319C>T, XM_011530137.4:c.-319C>G, XM_011530137.3:c.-319C>T, XM_011530137.3:c.-319C>G, XM_011530137.2:c.-319C>T, XM_011530137.2:c.-319C>G, XM_011530137.1:c.-319C>T, XM_011530137.1:c.-319C>G, XM_011530133.3:c.-319C>T, XM_011530133.3:c.-319C>G, XM_011530133.2:c.-319C>T, XM_011530133.2:c.-319C>G, XM_011530133.1:c.-319C>T, XM_011530133.1:c.-319C>G, XM_011530136.3:c.-319C>T, XM_011530136.3:c.-319C>G, XM_011530136.2:c.-319C>T, XM_011530136.2:c.-319C>G, XM_011530136.1:c.-319C>T, XM_011530136.1:c.-319C>G, XM_011530134.3:c.-319C>T, XM_011530134.3:c.-319C>G, XM_011530134.2:c.-319C>T, XM_011530134.2:c.-319C>G, XM_011530134.1:c.-319C>T, XM_011530134.1:c.-319C>G, XM_011530135.3:c.-319C>T, XM_011530135.3:c.-319C>G, XM_011530135.2:c.-319C>T, XM_011530135.2:c.-319C>G, XM_011530135.1:c.-319C>T, XM_011530135.1:c.-319C>G, XM_017028768.3:c.-319C>T, XM_017028768.3:c.-319C>G, XM_017028768.2:c.-319C>T, XM_017028768.2:c.-319C>G, XM_017028768.1:c.-319C>T, XM_017028768.1:c.-319C>G, XM_017028769.3:c.-319C>T, XM_017028769.3:c.-319C>G, XM_017028769.2:c.-319C>T, XM_017028769.2:c.-319C>G, XM_017028769.1:c.-319C>T, XM_017028769.1:c.-319C>G, NM_001099781.2:c.-319C>T, NM_001099781.2:c.-319C>G, NM_001099781.1:c.-319C>T, NM_001099781.1:c.-319C>G, NM_001099782.2:c.-319C>T, NM_001099782.2:c.-319C>G, NM_001099782.1:c.-319C>T, NM_001099782.1:c.-319C>G, XM_047441329.1:c.-319C>T, XM_047441329.1:c.-319C>G, XM_047441328.1:c.-319C>T, XM_047441328.1:c.-319C>G, XM_047441330.1:c.-319C>T, XM_047441330.1:c.-319C>G, XM_047441331.1:c.-319C>T, XM_047441331.1:c.-319C>G, NM_001302464.1:c.-319C>T, NM_001302464.1:c.-319C>G, NM_001302465.1:c.-319C>T, NM_001302465.1:c.-319C>G

                                  17.

                                  rs1477719288 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    22:24225319 (GRCh38)
                                    22:24621287 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:24225318:T:G
                                    Gene:
                                    GGT5 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000022.11:g.24225319T>G, NC_000022.10:g.24621287T>G, NM_004121.5:c.1429A>C, NM_004121.4:c.1429A>C, NM_004121.3:c.1429A>C, NM_004121.2:c.1429A>C, XM_005261557.4:c.1432A>C, XM_005261557.3:c.1432A>C, XM_005261557.2:c.1432A>C, XM_005261557.1:c.1432A>C, XM_005261558.4:c.1429A>C, XM_005261558.3:c.1429A>C, XM_005261558.2:c.1429A>C, XM_005261558.1:c.1429A>C, XM_011530137.4:c.1447A>C, XM_011530137.3:c.1447A>C, XM_011530137.2:c.1447A>C, XM_011530137.1:c.1447A>C, XM_011530133.3:c.1447A>C, XM_011530133.2:c.1447A>C, XM_011530133.1:c.1447A>C, XM_011530136.3:c.1447A>C, XM_011530136.2:c.1447A>C, XM_011530136.1:c.1447A>C, XM_011530134.3:c.1447A>C, XM_011530134.2:c.1447A>C, XM_011530134.1:c.1447A>C, XM_011530135.3:c.1351A>C, XM_011530135.2:c.1351A>C, XM_011530135.1:c.1351A>C, XM_017028768.3:c.1333A>C, XM_017028768.2:c.1333A>C, XM_017028768.1:c.1333A>C, XM_017028769.3:c.1351A>C, XM_017028769.2:c.1351A>C, XM_017028769.1:c.1351A>C, NM_001099781.2:c.1432A>C, NM_001099781.1:c.1432A>C, NM_001099782.2:c.1333A>C, NM_001099782.1:c.1333A>C, XM_047441329.1:c.1429A>C, XM_047441328.1:c.1429A>C, XM_047441330.1:c.1429A>C, XM_047441331.1:c.1333A>C, NM_001302464.1:c.1333A>C, NM_001302465.1:c.1201A>C, NP_004112.2:p.Ile477Leu, XP_005261614.1:p.Ile478Leu, XP_005261615.1:p.Ile477Leu, XP_011528439.1:p.Ile483Leu, XP_011528435.1:p.Ile483Leu, XP_011528438.1:p.Ile483Leu, XP_011528436.1:p.Ile483Leu, XP_011528437.1:p.Ile451Leu, XP_016884257.1:p.Ile445Leu, XP_016884258.1:p.Ile451Leu, NP_001093251.1:p.Ile478Leu, NP_001093252.1:p.Ile445Leu, XP_047297285.1:p.Ile477Leu, XP_047297284.1:p.Ile477Leu, XP_047297286.1:p.Ile477Leu, XP_047297287.1:p.Ile445Leu, NP_001289393.1:p.Ile445Leu, NP_001289394.1:p.Ile401Leu

                                    18.

                                    rs1474693214 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      22:24244948 (GRCh38)
                                      22:24640916 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:24244947:G:C
                                      Gene:
                                      GGT5 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.24244948G>C, NC_000022.10:g.24640916G>C, NM_004121.5:c.-223C>G, NM_004121.4:c.-223C>G, NM_004121.3:c.-223C>G, NM_004121.2:c.-223C>G, XM_005261557.4:c.-223C>G, XM_005261557.3:c.-223C>G, XM_005261557.2:c.-223C>G, XM_005261557.1:c.-223C>G, XM_005261558.4:c.-223C>G, XM_005261558.3:c.-223C>G, XM_005261558.2:c.-223C>G, XM_005261558.1:c.-223C>G, XM_011530137.4:c.-223C>G, XM_011530137.3:c.-223C>G, XM_011530137.2:c.-223C>G, XM_011530137.1:c.-223C>G, XM_011530133.3:c.-223C>G, XM_011530133.2:c.-223C>G, XM_011530133.1:c.-223C>G, XM_011530136.3:c.-223C>G, XM_011530136.2:c.-223C>G, XM_011530136.1:c.-223C>G, XM_011530134.3:c.-223C>G, XM_011530134.2:c.-223C>G, XM_011530134.1:c.-223C>G, XM_011530135.3:c.-223C>G, XM_011530135.2:c.-223C>G, XM_011530135.1:c.-223C>G, XM_017028768.3:c.-223C>G, XM_017028768.2:c.-223C>G, XM_017028768.1:c.-223C>G, XM_017028769.3:c.-223C>G, XM_017028769.2:c.-223C>G, XM_017028769.1:c.-223C>G, NM_001099781.2:c.-223C>G, NM_001099781.1:c.-223C>G, NM_001099782.2:c.-223C>G, NM_001099782.1:c.-223C>G, XM_047441329.1:c.-223C>G, XM_047441328.1:c.-223C>G, XM_047441330.1:c.-223C>G, XM_047441331.1:c.-223C>G, NM_001302464.1:c.-223C>G, NM_001302465.1:c.-223C>G

                                      19.

                                      rs1474434817 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        22:24226701 (GRCh38)
                                        22:24622669 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:24226700:A:G
                                        Gene:
                                        GGT5 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000022.11:g.24226701A>G, NC_000022.10:g.24622669A>G, NM_004121.5:c.968T>C, NM_004121.4:c.968T>C, NM_004121.3:c.968T>C, NM_004121.2:c.968T>C, XM_005261557.4:c.968T>C, XM_005261557.3:c.968T>C, XM_005261557.2:c.968T>C, XM_005261557.1:c.968T>C, XM_005261558.4:c.968T>C, XM_005261558.3:c.968T>C, XM_005261558.2:c.968T>C, XM_005261558.1:c.968T>C, XM_011530137.4:c.968T>C, XM_011530137.3:c.968T>C, XM_011530137.2:c.968T>C, XM_011530137.1:c.968T>C, XM_011530133.3:c.968T>C, XM_011530133.2:c.968T>C, XM_011530133.1:c.968T>C, XM_011530136.3:c.968T>C, XM_011530136.2:c.968T>C, XM_011530136.1:c.968T>C, XM_011530134.3:c.968T>C, XM_011530134.2:c.968T>C, XM_011530134.1:c.968T>C, XM_011530135.3:c.872T>C, XM_011530135.2:c.872T>C, XM_011530135.1:c.872T>C, XM_017028768.3:c.872T>C, XM_017028768.2:c.872T>C, XM_017028768.1:c.872T>C, XM_017028769.3:c.872T>C, XM_017028769.2:c.872T>C, XM_017028769.1:c.872T>C, NM_001099781.2:c.968T>C, NM_001099781.1:c.968T>C, NM_001099782.2:c.872T>C, NM_001099782.1:c.872T>C, XM_047441329.1:c.968T>C, XM_047441328.1:c.968T>C, XM_047441330.1:c.968T>C, XM_047441331.1:c.872T>C, NM_001302464.1:c.872T>C, NM_001302465.1:c.737T>C, NP_004112.2:p.Val323Ala, XP_005261614.1:p.Val323Ala, XP_005261615.1:p.Val323Ala, XP_011528439.1:p.Val323Ala, XP_011528435.1:p.Val323Ala, XP_011528438.1:p.Val323Ala, XP_011528436.1:p.Val323Ala, XP_011528437.1:p.Val291Ala, XP_016884257.1:p.Val291Ala, XP_016884258.1:p.Val291Ala, NP_001093251.1:p.Val323Ala, NP_001093252.1:p.Val291Ala, XP_047297285.1:p.Val323Ala, XP_047297284.1:p.Val323Ala, XP_047297286.1:p.Val323Ala, XP_047297287.1:p.Val291Ala, NP_001289393.1:p.Val291Ala, NP_001289394.1:p.Val246Ala

                                        20.

                                        rs1467173003 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          22:24244670 (GRCh38)
                                          22:24640638 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:24244669:G:A,NC_000022.11:24244669:G:C
                                          Gene:
                                          GGT5 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000017/2 (ExAC)
                                          A=0.00004/10 (GnomAD_exomes)
                                          A=0.00005/7 (GnomAD)
                                          A=0.000087/23 (TOPMED)
                                          A=0.00463/1 (Vietnamese)
                                          HGVS:
                                          NC_000022.11:g.24244670G>A, NC_000022.11:g.24244670G>C, NC_000022.10:g.24640638G>A, NC_000022.10:g.24640638G>C, NM_004121.5:c.56C>T, NM_004121.5:c.56C>G, NM_004121.4:c.56C>T, NM_004121.4:c.56C>G, NM_004121.3:c.56C>T, NM_004121.3:c.56C>G, NM_004121.2:c.56C>T, NM_004121.2:c.56C>G, XM_005261557.4:c.56C>T, XM_005261557.4:c.56C>G, XM_005261557.3:c.56C>T, XM_005261557.3:c.56C>G, XM_005261557.2:c.56C>T, XM_005261557.2:c.56C>G, XM_005261557.1:c.56C>T, XM_005261557.1:c.56C>G, XM_005261558.4:c.56C>T, XM_005261558.4:c.56C>G, XM_005261558.3:c.56C>T, XM_005261558.3:c.56C>G, XM_005261558.2:c.56C>T, XM_005261558.2:c.56C>G, XM_005261558.1:c.56C>T, XM_005261558.1:c.56C>G, XM_011530137.4:c.56C>T, XM_011530137.4:c.56C>G, XM_011530137.3:c.56C>T, XM_011530137.3:c.56C>G, XM_011530137.2:c.56C>T, XM_011530137.2:c.56C>G, XM_011530137.1:c.56C>T, XM_011530137.1:c.56C>G, XM_011530133.3:c.56C>T, XM_011530133.3:c.56C>G, XM_011530133.2:c.56C>T, XM_011530133.2:c.56C>G, XM_011530133.1:c.56C>T, XM_011530133.1:c.56C>G, XM_011530136.3:c.56C>T, XM_011530136.3:c.56C>G, XM_011530136.2:c.56C>T, XM_011530136.2:c.56C>G, XM_011530136.1:c.56C>T, XM_011530136.1:c.56C>G, XM_011530134.3:c.56C>T, XM_011530134.3:c.56C>G, XM_011530134.2:c.56C>T, XM_011530134.2:c.56C>G, XM_011530134.1:c.56C>T, XM_011530134.1:c.56C>G, XM_011530135.3:c.56C>T, XM_011530135.3:c.56C>G, XM_011530135.2:c.56C>T, XM_011530135.2:c.56C>G, XM_011530135.1:c.56C>T, XM_011530135.1:c.56C>G, XM_017028768.3:c.56C>T, XM_017028768.3:c.56C>G, XM_017028768.2:c.56C>T, XM_017028768.2:c.56C>G, XM_017028768.1:c.56C>T, XM_017028768.1:c.56C>G, XM_017028769.3:c.56C>T, XM_017028769.3:c.56C>G, XM_017028769.2:c.56C>T, XM_017028769.2:c.56C>G, XM_017028769.1:c.56C>T, XM_017028769.1:c.56C>G, NM_001099781.2:c.56C>T, NM_001099781.2:c.56C>G, NM_001099781.1:c.56C>T, NM_001099781.1:c.56C>G, NM_001099782.2:c.56C>T, NM_001099782.2:c.56C>G, NM_001099782.1:c.56C>T, NM_001099782.1:c.56C>G, XM_047441329.1:c.56C>T, XM_047441329.1:c.56C>G, XM_047441328.1:c.56C>T, XM_047441328.1:c.56C>G, XM_047441330.1:c.56C>T, XM_047441330.1:c.56C>G, XM_047441331.1:c.56C>T, XM_047441331.1:c.56C>G, NM_001302464.1:c.56C>T, NM_001302464.1:c.56C>G, NM_001302465.1:c.56C>T, NM_001302465.1:c.56C>G, NP_004112.2:p.Ala19Val, NP_004112.2:p.Ala19Gly, XP_005261614.1:p.Ala19Val, XP_005261614.1:p.Ala19Gly, XP_005261615.1:p.Ala19Val, XP_005261615.1:p.Ala19Gly, XP_011528439.1:p.Ala19Val, XP_011528439.1:p.Ala19Gly, XP_011528435.1:p.Ala19Val, XP_011528435.1:p.Ala19Gly, XP_011528438.1:p.Ala19Val, XP_011528438.1:p.Ala19Gly, XP_011528436.1:p.Ala19Val, XP_011528436.1:p.Ala19Gly, XP_011528437.1:p.Ala19Val, XP_011528437.1:p.Ala19Gly, XP_016884257.1:p.Ala19Val, XP_016884257.1:p.Ala19Gly, XP_016884258.1:p.Ala19Val, XP_016884258.1:p.Ala19Gly, NP_001093251.1:p.Ala19Val, NP_001093251.1:p.Ala19Gly, NP_001093252.1:p.Ala19Val, NP_001093252.1:p.Ala19Gly, XP_047297285.1:p.Ala19Val, XP_047297285.1:p.Ala19Gly, XP_047297284.1:p.Ala19Val, XP_047297284.1:p.Ala19Gly, XP_047297286.1:p.Ala19Val, XP_047297286.1:p.Ala19Gly, XP_047297287.1:p.Ala19Val, XP_047297287.1:p.Ala19Gly, NP_001289393.1:p.Ala19Val, NP_001289393.1:p.Ala19Gly, NP_001289394.1:p.Ala19Val, NP_001289394.1:p.Ala19Gly

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