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    Items: 1 to 20 of 702

    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.

      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

        3.

        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

          4.

          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

            5.

            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

              6.

              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

                7.

                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

                  8.

                  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

                    9.

                    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

                      10.

                      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

                        11.

                        rs1476808203 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:24233920 (GRCh38)
                          22:24629888 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:24233919:C:A
                          Gene:
                          GGT5 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.24233920C>A, NC_000022.10:g.24629888C>A, NM_004121.5:c.258G>T, NM_004121.4:c.258G>T, NM_004121.3:c.258G>T, NM_004121.2:c.258G>T, XM_005261557.4:c.258G>T, XM_005261557.3:c.258G>T, XM_005261557.2:c.258G>T, XM_005261557.1:c.258G>T, XM_005261558.4:c.258G>T, XM_005261558.3:c.258G>T, XM_005261558.2:c.258G>T, XM_005261558.1:c.258G>T, XM_011530137.4:c.258G>T, XM_011530137.3:c.258G>T, XM_011530137.2:c.258G>T, XM_011530137.1:c.258G>T, XM_011530133.3:c.258G>T, XM_011530133.2:c.258G>T, XM_011530133.1:c.258G>T, XM_011530136.3:c.258G>T, XM_011530136.2:c.258G>T, XM_011530136.1:c.258G>T, XM_011530134.3:c.258G>T, XM_011530134.2:c.258G>T, XM_011530134.1:c.258G>T, XM_011530135.3:c.258G>T, XM_011530135.2:c.258G>T, XM_011530135.1:c.258G>T, XM_017028768.3:c.258G>T, XM_017028768.2:c.258G>T, XM_017028768.1:c.258G>T, XM_017028769.3:c.258G>T, XM_017028769.2:c.258G>T, XM_017028769.1:c.258G>T, NM_001099781.2:c.258G>T, NM_001099781.1:c.258G>T, NM_001099782.2:c.258G>T, NM_001099782.1:c.258G>T, XM_047441329.1:c.258G>T, XM_047441328.1:c.258G>T, XM_047441330.1:c.258G>T, XM_047441331.1:c.258G>T, NM_001302464.1:c.258G>T, NP_004112.2:p.Met86Ile, XP_005261614.1:p.Met86Ile, XP_005261615.1:p.Met86Ile, XP_011528439.1:p.Met86Ile, XP_011528435.1:p.Met86Ile, XP_011528438.1:p.Met86Ile, XP_011528436.1:p.Met86Ile, XP_011528437.1:p.Met86Ile, XP_016884257.1:p.Met86Ile, XP_016884258.1:p.Met86Ile, NP_001093251.1:p.Met86Ile, NP_001093252.1:p.Met86Ile, XP_047297285.1:p.Met86Ile, XP_047297284.1:p.Met86Ile, XP_047297286.1:p.Met86Ile, XP_047297287.1:p.Met86Ile, NP_001289393.1:p.Met86Ile

                          12.

                          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

                            13.

                            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

                              14.

                              rs1467161507 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                22:24219974 (GRCh38)
                                22:24615942 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:24219973:T:C
                                Gene:
                                GGT5 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000094/2 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000022.11:g.24219974T>C, NC_000022.10:g.24615942T>C, NM_004121.5:c.1757A>G, NM_004121.4:c.1757A>G, NM_004121.3:c.1757A>G, NM_004121.2:c.1757A>G, XM_005261557.4:c.1853A>G, XM_005261557.3:c.1853A>G, XM_005261557.2:c.1853A>G, XM_005261557.1:c.1853A>G, XM_005261558.4:c.1850A>G, XM_005261558.3:c.1850A>G, XM_005261558.2:c.1850A>G, XM_005261558.1:c.1850A>G, XM_011530137.4:c.*165A>G, XM_011530137.3:c.*165A>G, XM_011530137.2:c.*165A>G, XM_011530133.3:c.1868A>G, XM_011530133.2:c.1868A>G, XM_011530133.1:c.1868A>G, XM_011530136.3:c.*151A>G, XM_011530136.2:c.*151A>G, XM_011530136.1:c.*151A>G, XM_011530134.3:c.1775A>G, XM_011530134.2:c.1775A>G, XM_011530134.1:c.1775A>G, XM_011530135.3:c.1772A>G, XM_011530135.2:c.1772A>G, XM_011530135.1:c.1772A>G, XM_017028768.3:c.1754A>G, XM_017028768.2:c.1754A>G, XM_017028768.1:c.1754A>G, XM_017028769.3:c.1679A>G, XM_017028769.2:c.1679A>G, XM_017028769.1:c.1679A>G, NM_001099781.2:c.1760A>G, NM_001099781.1:c.1760A>G, NM_001099782.2:c.1661A>G, NM_001099782.1:c.1661A>G, XM_047441329.1:c.*526A>G, XM_047441328.1:c.*165A>G, XM_047441330.1:c.*165A>G, XM_047441331.1:c.*165A>G, NM_001302464.1:c.*151A>G, NM_001302465.1:c.1529A>G, NP_004112.2:p.Tyr586Cys, XP_005261614.1:p.Tyr618Cys, XP_005261615.1:p.Tyr617Cys, XP_011528435.1:p.Tyr623Cys, XP_011528436.1:p.Tyr592Cys, XP_011528437.1:p.Tyr591Cys, XP_016884257.1:p.Tyr585Cys, XP_016884258.1:p.Tyr560Cys, NP_001093251.1:p.Tyr587Cys, NP_001093252.1:p.Tyr554Cys, NP_001289394.1:p.Tyr510Cys

                                15.

                                rs1465349354 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  22:24232085 (GRCh38)
                                  22:24628053 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:24232084:C:T
                                  Gene:
                                  GGT5 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000022.11:g.24232085C>T, NC_000022.10:g.24628053C>T, NM_004121.5:c.720G>A, NM_004121.4:c.720G>A, NM_004121.3:c.720G>A, NM_004121.2:c.720G>A, XM_005261557.4:c.720G>A, XM_005261557.3:c.720G>A, XM_005261557.2:c.720G>A, XM_005261557.1:c.720G>A, XM_005261558.4:c.720G>A, XM_005261558.3:c.720G>A, XM_005261558.2:c.720G>A, XM_005261558.1:c.720G>A, XM_011530137.4:c.720G>A, XM_011530137.3:c.720G>A, XM_011530137.2:c.720G>A, XM_011530137.1:c.720G>A, XM_011530133.3:c.720G>A, XM_011530133.2:c.720G>A, XM_011530133.1:c.720G>A, XM_011530136.3:c.720G>A, XM_011530136.2:c.720G>A, XM_011530136.1:c.720G>A, XM_011530134.3:c.720G>A, XM_011530134.2:c.720G>A, XM_011530134.1:c.720G>A, XM_011530135.3:c.624G>A, XM_011530135.2:c.624G>A, XM_011530135.1:c.624G>A, XM_017028768.3:c.624G>A, XM_017028768.2:c.624G>A, XM_017028768.1:c.624G>A, XM_017028769.3:c.624G>A, XM_017028769.2:c.624G>A, XM_017028769.1:c.624G>A, NM_001099781.2:c.720G>A, NM_001099781.1:c.720G>A, NM_001099782.2:c.624G>A, NM_001099782.1:c.624G>A, XM_047441329.1:c.720G>A, XM_047441328.1:c.720G>A, XM_047441330.1:c.720G>A, XM_047441331.1:c.624G>A, NM_001302464.1:c.624G>A, NM_001302465.1:c.489G>A

                                  16.

                                  rs1464805392 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    22:24231415 (GRCh38)
                                    22:24627383 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:24231414:G:A
                                    Gene:
                                    GGT5 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    A=0.000019/3 (GnomAD_exomes)
                                    A=0.000029/4 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.24231415G>A, NC_000022.10:g.24627383G>A, NM_004121.5:c.870C>T, NM_004121.4:c.870C>T, NM_004121.3:c.870C>T, NM_004121.2:c.870C>T, XM_005261557.4:c.870C>T, XM_005261557.3:c.870C>T, XM_005261557.2:c.870C>T, XM_005261557.1:c.870C>T, XM_005261558.4:c.870C>T, XM_005261558.3:c.870C>T, XM_005261558.2:c.870C>T, XM_005261558.1:c.870C>T, XM_011530137.4:c.870C>T, XM_011530137.3:c.870C>T, XM_011530137.2:c.870C>T, XM_011530137.1:c.870C>T, XM_011530133.3:c.870C>T, XM_011530133.2:c.870C>T, XM_011530133.1:c.870C>T, XM_011530136.3:c.870C>T, XM_011530136.2:c.870C>T, XM_011530136.1:c.870C>T, XM_011530134.3:c.870C>T, XM_011530134.2:c.870C>T, XM_011530134.1:c.870C>T, XM_011530135.3:c.774C>T, XM_011530135.2:c.774C>T, XM_011530135.1:c.774C>T, XM_017028768.3:c.774C>T, XM_017028768.2:c.774C>T, XM_017028768.1:c.774C>T, XM_017028769.3:c.774C>T, XM_017028769.2:c.774C>T, XM_017028769.1:c.774C>T, NM_001099781.2:c.870C>T, NM_001099781.1:c.870C>T, NM_001099782.2:c.774C>T, NM_001099782.1:c.774C>T, XM_047441329.1:c.870C>T, XM_047441328.1:c.870C>T, XM_047441330.1:c.870C>T, XM_047441331.1:c.774C>T, NM_001302464.1:c.774C>T, NM_001302465.1:c.639C>T

                                    17.

                                    rs1464595648 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      22:24226078 (GRCh38)
                                      22:24622046 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:24226077:T:A
                                      Gene:
                                      GGT5 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000022.11:g.24226078T>A, NC_000022.10:g.24622046T>A, NM_004121.5:c.1227A>T, NM_004121.4:c.1227A>T, NM_004121.3:c.1227A>T, NM_004121.2:c.1227A>T, XM_005261557.4:c.1227A>T, XM_005261557.3:c.1227A>T, XM_005261557.2:c.1227A>T, XM_005261557.1:c.1227A>T, XM_005261558.4:c.1227A>T, XM_005261558.3:c.1227A>T, XM_005261558.2:c.1227A>T, XM_005261558.1:c.1227A>T, XM_011530137.4:c.1227A>T, XM_011530137.3:c.1227A>T, XM_011530137.2:c.1227A>T, XM_011530137.1:c.1227A>T, XM_011530133.3:c.1227A>T, XM_011530133.2:c.1227A>T, XM_011530133.1:c.1227A>T, XM_011530136.3:c.1227A>T, XM_011530136.2:c.1227A>T, XM_011530136.1:c.1227A>T, XM_011530134.3:c.1227A>T, XM_011530134.2:c.1227A>T, XM_011530134.1:c.1227A>T, XM_011530135.3:c.1131A>T, XM_011530135.2:c.1131A>T, XM_011530135.1:c.1131A>T, XM_017028768.3:c.1131A>T, XM_017028768.2:c.1131A>T, XM_017028768.1:c.1131A>T, XM_017028769.3:c.1131A>T, XM_017028769.2:c.1131A>T, XM_017028769.1:c.1131A>T, NM_001099781.2:c.1227A>T, NM_001099781.1:c.1227A>T, NM_001099782.2:c.1131A>T, NM_001099782.1:c.1131A>T, XM_047441329.1:c.1227A>T, XM_047441328.1:c.1227A>T, XM_047441330.1:c.1227A>T, XM_047441331.1:c.1131A>T, NM_001302464.1:c.1131A>T, NM_001302465.1:c.996A>T

                                      18.

                                      rs1464299291 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        22:24225044 (GRCh38)
                                        22:24621012 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:24225043:C:T
                                        Gene:
                                        GGT5 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000022.11:g.24225044C>T, NC_000022.10:g.24621012C>T, NM_004121.5:c.1566G>A, NM_004121.4:c.1566G>A, NM_004121.3:c.1566G>A, NM_004121.2:c.1566G>A, XM_005261557.4:c.1569G>A, XM_005261557.3:c.1569G>A, XM_005261557.2:c.1569G>A, XM_005261557.1:c.1569G>A, XM_005261558.4:c.1566G>A, XM_005261558.3:c.1566G>A, XM_005261558.2:c.1566G>A, XM_005261558.1:c.1566G>A, XM_011530137.4:c.1584G>A, XM_011530137.3:c.1584G>A, XM_011530137.2:c.1584G>A, XM_011530137.1:c.1584G>A, XM_011530133.3:c.1584G>A, XM_011530133.2:c.1584G>A, XM_011530133.1:c.1584G>A, XM_011530136.3:c.1584G>A, XM_011530136.2:c.1584G>A, XM_011530136.1:c.1584G>A, XM_011530134.3:c.1584G>A, XM_011530134.2:c.1584G>A, XM_011530134.1:c.1584G>A, XM_011530135.3:c.1488G>A, XM_011530135.2:c.1488G>A, XM_011530135.1:c.1488G>A, XM_017028768.3:c.1470G>A, XM_017028768.2:c.1470G>A, XM_017028768.1:c.1470G>A, XM_017028769.3:c.1488G>A, XM_017028769.2:c.1488G>A, XM_017028769.1:c.1488G>A, NM_001099781.2:c.1569G>A, NM_001099781.1:c.1569G>A, NM_001099782.2:c.1470G>A, NM_001099782.1:c.1470G>A, XM_047441329.1:c.1566G>A, XM_047441328.1:c.1566G>A, XM_047441330.1:c.1566G>A, XM_047441331.1:c.1470G>A, NM_001302464.1:c.1470G>A, NM_001302465.1:c.1338G>A

                                        19.

                                        rs1463475730 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          22:24244643 (GRCh38)
                                          22:24640611 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:24244642:A:G
                                          Gene:
                                          GGT5 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000022.11:g.24244643A>G, NC_000022.10:g.24640611A>G, NM_004121.5:c.83T>C, NM_004121.4:c.83T>C, NM_004121.3:c.83T>C, NM_004121.2:c.83T>C, XM_005261557.4:c.83T>C, XM_005261557.3:c.83T>C, XM_005261557.2:c.83T>C, XM_005261557.1:c.83T>C, XM_005261558.4:c.83T>C, XM_005261558.3:c.83T>C, XM_005261558.2:c.83T>C, XM_005261558.1:c.83T>C, XM_011530137.4:c.83T>C, XM_011530137.3:c.83T>C, XM_011530137.2:c.83T>C, XM_011530137.1:c.83T>C, XM_011530133.3:c.83T>C, XM_011530133.2:c.83T>C, XM_011530133.1:c.83T>C, XM_011530136.3:c.83T>C, XM_011530136.2:c.83T>C, XM_011530136.1:c.83T>C, XM_011530134.3:c.83T>C, XM_011530134.2:c.83T>C, XM_011530134.1:c.83T>C, XM_011530135.3:c.83T>C, XM_011530135.2:c.83T>C, XM_011530135.1:c.83T>C, XM_017028768.3:c.83T>C, XM_017028768.2:c.83T>C, XM_017028768.1:c.83T>C, XM_017028769.3:c.83T>C, XM_017028769.2:c.83T>C, XM_017028769.1:c.83T>C, NM_001099781.2:c.83T>C, NM_001099781.1:c.83T>C, NM_001099782.2:c.83T>C, NM_001099782.1:c.83T>C, XM_047441329.1:c.83T>C, XM_047441328.1:c.83T>C, XM_047441330.1:c.83T>C, XM_047441331.1:c.83T>C, NM_001302464.1:c.83T>C, NM_001302465.1:c.83T>C, NP_004112.2:p.Val28Ala, XP_005261614.1:p.Val28Ala, XP_005261615.1:p.Val28Ala, XP_011528439.1:p.Val28Ala, XP_011528435.1:p.Val28Ala, XP_011528438.1:p.Val28Ala, XP_011528436.1:p.Val28Ala, XP_011528437.1:p.Val28Ala, XP_016884257.1:p.Val28Ala, XP_016884258.1:p.Val28Ala, NP_001093251.1:p.Val28Ala, NP_001093252.1:p.Val28Ala, XP_047297285.1:p.Val28Ala, XP_047297284.1:p.Val28Ala, XP_047297286.1:p.Val28Ala, XP_047297287.1:p.Val28Ala, NP_001289393.1:p.Val28Ala, NP_001289394.1:p.Val28Ala

                                          20.

                                          rs1463046976 [Homo sapiens]
                                            Variant type:
                                            SNV
                                            Alleles:
                                            G>A [Show Flanks]
                                            Chromosome:
                                            22:24226636 (GRCh38)
                                            22:24622604 (GRCh37)
                                            Canonical SPDI:
                                            NC_000022.11:24226635:G:A
                                            Gene:
                                            GGT5 (Varview)
                                            Functional Consequence:
                                            missense_variant,coding_sequence_variant
                                            Validated:
                                            by frequency,by alfa
                                            MAF:
                                            A=0./0 (ALFA)
                                            A=0.000004/1 (TOPMED)
                                            HGVS:
                                            NC_000022.11:g.24226636G>A, NC_000022.10:g.24622604G>A, NM_004121.5:c.1033C>T, NM_004121.4:c.1033C>T, NM_004121.3:c.1033C>T, NM_004121.2:c.1033C>T, XM_005261557.4:c.1033C>T, XM_005261557.3:c.1033C>T, XM_005261557.2:c.1033C>T, XM_005261557.1:c.1033C>T, XM_005261558.4:c.1033C>T, XM_005261558.3:c.1033C>T, XM_005261558.2:c.1033C>T, XM_005261558.1:c.1033C>T, XM_011530137.4:c.1033C>T, XM_011530137.3:c.1033C>T, XM_011530137.2:c.1033C>T, XM_011530137.1:c.1033C>T, XM_011530133.3:c.1033C>T, XM_011530133.2:c.1033C>T, XM_011530133.1:c.1033C>T, XM_011530136.3:c.1033C>T, XM_011530136.2:c.1033C>T, XM_011530136.1:c.1033C>T, XM_011530134.3:c.1033C>T, XM_011530134.2:c.1033C>T, XM_011530134.1:c.1033C>T, XM_011530135.3:c.937C>T, XM_011530135.2:c.937C>T, XM_011530135.1:c.937C>T, XM_017028768.3:c.937C>T, XM_017028768.2:c.937C>T, XM_017028768.1:c.937C>T, XM_017028769.3:c.937C>T, XM_017028769.2:c.937C>T, XM_017028769.1:c.937C>T, NM_001099781.2:c.1033C>T, NM_001099781.1:c.1033C>T, NM_001099782.2:c.937C>T, NM_001099782.1:c.937C>T, XM_047441329.1:c.1033C>T, XM_047441328.1:c.1033C>T, XM_047441330.1:c.1033C>T, XM_047441331.1:c.937C>T, NM_001302464.1:c.937C>T, NM_001302465.1:c.802C>T, NP_004112.2:p.Leu345Phe, XP_005261614.1:p.Leu345Phe, XP_005261615.1:p.Leu345Phe, XP_011528439.1:p.Leu345Phe, XP_011528435.1:p.Leu345Phe, XP_011528438.1:p.Leu345Phe, XP_011528436.1:p.Leu345Phe, XP_011528437.1:p.Leu313Phe, XP_016884257.1:p.Leu313Phe, XP_016884258.1:p.Leu313Phe, NP_001093251.1:p.Leu345Phe, NP_001093252.1:p.Leu313Phe, XP_047297285.1:p.Leu345Phe, XP_047297284.1:p.Leu345Phe, XP_047297286.1:p.Leu345Phe, XP_047297287.1:p.Leu313Phe, NP_001289393.1:p.Leu313Phe, NP_001289394.1:p.Leu268Phe

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