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Items: 1 to 20 of 365

1.

rs1485242417 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:72241279 (GRCh38)
    9:74856195 (GRCh37)
    Canonical SPDI:
    NC_000009.12:72241278:T:C
    Gene:
    GDA (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000009.12:g.72241279T>C, NC_000009.11:g.74856195T>C, NG_030562.1:g.131685T>C, NM_004293.5:c.1116T>C, NM_004293.4:c.1116T>C, NM_001242506.3:c.894T>C, NM_001242506.2:c.894T>C, NM_001242507.3:c.894T>C, NM_001242507.2:c.894T>C, NM_001242505.3:c.1116T>C, NM_001242505.2:c.1116T>C, NM_001351571.2:c.990T>C, NM_001351571.1:c.990T>C, NR_147240.2:n.1236T>C, NR_147240.1:n.1325T>C, NM_001351572.2:c.1116T>C, NM_001351572.1:c.1116T>C, NM_001351573.2:c.1116T>C, NM_001351573.1:c.1116T>C, XR_001746423.3:n.1350T>C, XR_001746423.2:n.1428T>C, XR_001746423.1:n.1437T>C, XM_011519217.3:c.1230T>C, XM_011519217.2:c.1230T>C, XM_011519217.1:c.1230T>C, XR_001746424.3:n.1350T>C, XR_001746424.2:n.1428T>C, XR_001746424.1:n.1437T>C, XM_011519218.3:c.1110T>C, XM_011519218.2:c.1110T>C, XM_011519218.1:c.1110T>C, XM_011519222.3:c.1230T>C, XM_011519222.2:c.1230T>C, XM_011519222.1:c.1230T>C, XM_011519215.3:c.1230T>C, XM_011519215.2:c.1230T>C, XM_011519215.1:c.1230T>C, XM_005252317.3:c.1116T>C, XM_005252317.2:c.1116T>C, XM_005252317.1:c.1116T>C, XM_011519213.3:c.1230T>C, XM_011519213.2:c.1230T>C, XM_011519213.1:c.1230T>C, XM_011519216.3:c.1230T>C, XM_011519216.2:c.1230T>C, XM_011519216.1:c.1230T>C, XR_929878.3:n.1350T>C, XR_929878.2:n.1428T>C, XR_929878.1:n.1437T>C, XM_017015338.2:c.1050T>C, XM_017015338.1:c.1050T>C, XM_011519219.2:c.1104T>C, XM_011519219.1:c.1104T>C, XM_011519220.2:c.990T>C, XM_011519220.1:c.990T>C, XM_024447720.2:c.1116T>C, XM_024447720.1:c.1116T>C, XM_017015340.2:c.606T>C, XM_017015340.1:c.606T>C, XM_011519223.2:c.606T>C, XM_011519223.1:c.606T>C, XR_007061378.1:n.1350T>C, XR_007061379.1:n.1350T>C, XR_007061380.1:n.1350T>C, XR_007061376.1:n.1350T>C, XR_007061381.1:n.1236T>C, XM_047424102.1:c.1110T>C, XR_007061377.1:n.1350T>C, XM_047424104.1:c.1050T>C, XM_047424109.1:c.1008T>C, XM_047424101.1:c.1137T>C, XM_047424108.1:c.990T>C, XM_047424106.1:c.990T>C, XM_047424099.1:c.1230T>C, XM_047424103.1:c.1116T>C, XM_047424107.1:c.990T>C

    2.

    rs1484860404 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:72241234 (GRCh38)
      9:74856150 (GRCh37)
      Canonical SPDI:
      NC_000009.12:72241233:G:A
      Gene:
      GDA (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000009.12:g.72241234G>A, NC_000009.11:g.74856150G>A, NG_030562.1:g.131640G>A, NM_004293.5:c.1071G>A, NM_004293.4:c.1071G>A, NM_001242506.3:c.849G>A, NM_001242506.2:c.849G>A, NM_001242507.3:c.849G>A, NM_001242507.2:c.849G>A, NM_001242505.3:c.1071G>A, NM_001242505.2:c.1071G>A, NM_001351571.2:c.945G>A, NM_001351571.1:c.945G>A, NR_147240.2:n.1191G>A, NR_147240.1:n.1280G>A, NM_001351572.2:c.1071G>A, NM_001351572.1:c.1071G>A, NM_001351573.2:c.1071G>A, NM_001351573.1:c.1071G>A, XR_001746423.3:n.1305G>A, XR_001746423.2:n.1383G>A, XR_001746423.1:n.1392G>A, XM_011519217.3:c.1185G>A, XM_011519217.2:c.1185G>A, XM_011519217.1:c.1185G>A, XR_001746424.3:n.1305G>A, XR_001746424.2:n.1383G>A, XR_001746424.1:n.1392G>A, XM_011519218.3:c.1065G>A, XM_011519218.2:c.1065G>A, XM_011519218.1:c.1065G>A, XM_011519222.3:c.1185G>A, XM_011519222.2:c.1185G>A, XM_011519222.1:c.1185G>A, XM_011519215.3:c.1185G>A, XM_011519215.2:c.1185G>A, XM_011519215.1:c.1185G>A, XM_005252317.3:c.1071G>A, XM_005252317.2:c.1071G>A, XM_005252317.1:c.1071G>A, XM_011519213.3:c.1185G>A, XM_011519213.2:c.1185G>A, XM_011519213.1:c.1185G>A, XM_011519216.3:c.1185G>A, XM_011519216.2:c.1185G>A, XM_011519216.1:c.1185G>A, XR_929878.3:n.1305G>A, XR_929878.2:n.1383G>A, XR_929878.1:n.1392G>A, XM_017015338.2:c.1005G>A, XM_017015338.1:c.1005G>A, XM_011519219.2:c.1059G>A, XM_011519219.1:c.1059G>A, XM_011519220.2:c.945G>A, XM_011519220.1:c.945G>A, XM_024447720.2:c.1071G>A, XM_024447720.1:c.1071G>A, XM_017015340.2:c.561G>A, XM_017015340.1:c.561G>A, XM_011519223.2:c.561G>A, XM_011519223.1:c.561G>A, XR_007061378.1:n.1305G>A, XR_007061379.1:n.1305G>A, XR_007061380.1:n.1305G>A, XR_007061376.1:n.1305G>A, XR_007061381.1:n.1191G>A, XM_047424102.1:c.1065G>A, XR_007061377.1:n.1305G>A, XM_047424104.1:c.1005G>A, XM_047424109.1:c.963G>A, XM_047424101.1:c.1092G>A, XM_047424108.1:c.945G>A, XM_047424106.1:c.945G>A, XM_047424099.1:c.1185G>A, XM_047424103.1:c.1071G>A, XM_047424107.1:c.945G>A

      3.

      rs1481542249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:72241171 (GRCh38)
        9:74856087 (GRCh37)
        Canonical SPDI:
        NC_000009.12:72241170:A:G
        Gene:
        GDA (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.72241171A>G, NC_000009.11:g.74856087A>G, NG_030562.1:g.131577A>G, NM_004293.5:c.1008A>G, NM_004293.4:c.1008A>G, NM_001242506.3:c.786A>G, NM_001242506.2:c.786A>G, NM_001242507.3:c.786A>G, NM_001242507.2:c.786A>G, NM_001242505.3:c.1008A>G, NM_001242505.2:c.1008A>G, NM_001351571.2:c.882A>G, NM_001351571.1:c.882A>G, NR_147240.2:n.1128A>G, NR_147240.1:n.1217A>G, NM_001351572.2:c.1008A>G, NM_001351572.1:c.1008A>G, NM_001351573.2:c.1008A>G, NM_001351573.1:c.1008A>G, XR_001746423.3:n.1242A>G, XR_001746423.2:n.1320A>G, XR_001746423.1:n.1329A>G, XM_011519217.3:c.1122A>G, XM_011519217.2:c.1122A>G, XM_011519217.1:c.1122A>G, XR_001746424.3:n.1242A>G, XR_001746424.2:n.1320A>G, XR_001746424.1:n.1329A>G, XM_011519218.3:c.1002A>G, XM_011519218.2:c.1002A>G, XM_011519218.1:c.1002A>G, XM_011519222.3:c.1122A>G, XM_011519222.2:c.1122A>G, XM_011519222.1:c.1122A>G, XM_011519215.3:c.1122A>G, XM_011519215.2:c.1122A>G, XM_011519215.1:c.1122A>G, XM_005252317.3:c.1008A>G, XM_005252317.2:c.1008A>G, XM_005252317.1:c.1008A>G, XM_011519213.3:c.1122A>G, XM_011519213.2:c.1122A>G, XM_011519213.1:c.1122A>G, XM_011519216.3:c.1122A>G, XM_011519216.2:c.1122A>G, XM_011519216.1:c.1122A>G, XR_929878.3:n.1242A>G, XR_929878.2:n.1320A>G, XR_929878.1:n.1329A>G, XM_017015338.2:c.942A>G, XM_017015338.1:c.942A>G, XM_011519219.2:c.996A>G, XM_011519219.1:c.996A>G, XM_011519220.2:c.882A>G, XM_011519220.1:c.882A>G, XM_024447720.2:c.1008A>G, XM_024447720.1:c.1008A>G, XM_017015340.2:c.498A>G, XM_017015340.1:c.498A>G, XM_011519223.2:c.498A>G, XM_011519223.1:c.498A>G, XR_007061378.1:n.1242A>G, XR_007061379.1:n.1242A>G, XR_007061380.1:n.1242A>G, XR_007061376.1:n.1242A>G, XR_007061381.1:n.1128A>G, XM_047424102.1:c.1002A>G, XR_007061377.1:n.1242A>G, XM_047424104.1:c.942A>G, XM_047424109.1:c.900A>G, XM_047424101.1:c.1029A>G, XM_047424108.1:c.882A>G, XM_047424106.1:c.882A>G, XM_047424099.1:c.1122A>G, XM_047424103.1:c.1008A>G, XM_047424107.1:c.882A>G

        4.

        rs1480981656 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          9:72208338 (GRCh38)
          9:74823254 (GRCh37)
          Canonical SPDI:
          NC_000009.12:72208337:C:T
          Gene:
          GDA (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000023/6 (TOPMED)
          T=0.000029/4 (GnomAD)
          HGVS:
          NC_000009.12:g.72208338C>T, NC_000009.11:g.74823254C>T, NG_030562.1:g.98744C>T, XR_001746423.3:n.618C>T, XR_001746423.2:n.696C>T, XR_001746423.1:n.705C>T, XM_011519217.3:c.498C>T, XM_011519217.2:c.498C>T, XM_011519217.1:c.498C>T, XR_001746424.3:n.618C>T, XR_001746424.2:n.696C>T, XR_001746424.1:n.705C>T, XM_011519218.3:c.378C>T, XM_011519218.2:c.378C>T, XM_011519218.1:c.378C>T, XM_011519222.3:c.498C>T, XM_011519222.2:c.498C>T, XM_011519222.1:c.498C>T, XM_011519215.3:c.498C>T, XM_011519215.2:c.498C>T, XM_011519215.1:c.498C>T, XM_011519213.3:c.498C>T, XM_011519213.2:c.498C>T, XM_011519213.1:c.498C>T, XM_011519216.3:c.498C>T, XM_011519216.2:c.498C>T, XM_011519216.1:c.498C>T, XR_929878.3:n.618C>T, XR_929878.2:n.696C>T, XR_929878.1:n.705C>T, XM_017015338.2:c.318C>T, XM_017015338.1:c.318C>T, XM_011519219.2:c.372C>T, XM_011519219.1:c.372C>T, XR_007061378.1:n.618C>T, XR_007061379.1:n.618C>T, XR_007061380.1:n.618C>T, XR_007061376.1:n.618C>T, XM_047424102.1:c.378C>T, XR_007061377.1:n.618C>T, XM_047424104.1:c.318C>T, XM_047424109.1:c.276C>T, XM_047424101.1:c.405C>T, XM_047424099.1:c.498C>T

          5.

          rs1480217043 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:72241152 (GRCh38)
            9:74856068 (GRCh37)
            Canonical SPDI:
            NC_000009.12:72241151:A:G
            Gene:
            GDA (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000071/1 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000009.12:g.72241152A>G, NC_000009.11:g.74856068A>G, NG_030562.1:g.131558A>G, NM_004293.5:c.989A>G, NM_004293.4:c.989A>G, NM_001242506.3:c.767A>G, NM_001242506.2:c.767A>G, NM_001242507.3:c.767A>G, NM_001242507.2:c.767A>G, NM_001242505.3:c.989A>G, NM_001242505.2:c.989A>G, NM_001351571.2:c.863A>G, NM_001351571.1:c.863A>G, NR_147240.2:n.1109A>G, NR_147240.1:n.1198A>G, NM_001351572.2:c.989A>G, NM_001351572.1:c.989A>G, NM_001351573.2:c.989A>G, NM_001351573.1:c.989A>G, XR_001746423.3:n.1223A>G, XR_001746423.2:n.1301A>G, XR_001746423.1:n.1310A>G, XM_011519217.3:c.1103A>G, XM_011519217.2:c.1103A>G, XM_011519217.1:c.1103A>G, XR_001746424.3:n.1223A>G, XR_001746424.2:n.1301A>G, XR_001746424.1:n.1310A>G, XM_011519218.3:c.983A>G, XM_011519218.2:c.983A>G, XM_011519218.1:c.983A>G, XM_011519222.3:c.1103A>G, XM_011519222.2:c.1103A>G, XM_011519222.1:c.1103A>G, XM_011519215.3:c.1103A>G, XM_011519215.2:c.1103A>G, XM_011519215.1:c.1103A>G, XM_005252317.3:c.989A>G, XM_005252317.2:c.989A>G, XM_005252317.1:c.989A>G, XM_011519213.3:c.1103A>G, XM_011519213.2:c.1103A>G, XM_011519213.1:c.1103A>G, XM_011519216.3:c.1103A>G, XM_011519216.2:c.1103A>G, XM_011519216.1:c.1103A>G, XR_929878.3:n.1223A>G, XR_929878.2:n.1301A>G, XR_929878.1:n.1310A>G, XM_017015338.2:c.923A>G, XM_017015338.1:c.923A>G, XM_011519219.2:c.977A>G, XM_011519219.1:c.977A>G, XM_011519220.2:c.863A>G, XM_011519220.1:c.863A>G, XM_024447720.2:c.989A>G, XM_024447720.1:c.989A>G, XM_017015340.2:c.479A>G, XM_017015340.1:c.479A>G, XM_011519223.2:c.479A>G, XM_011519223.1:c.479A>G, XR_007061378.1:n.1223A>G, XR_007061379.1:n.1223A>G, XR_007061380.1:n.1223A>G, XR_007061376.1:n.1223A>G, XR_007061381.1:n.1109A>G, XM_047424102.1:c.983A>G, XR_007061377.1:n.1223A>G, XM_047424104.1:c.923A>G, XM_047424109.1:c.881A>G, XM_047424101.1:c.1010A>G, XM_047424108.1:c.863A>G, XM_047424106.1:c.863A>G, XM_047424099.1:c.1103A>G, XM_047424103.1:c.989A>G, XM_047424107.1:c.863A>G, NP_004284.1:p.Asp330Gly, NP_001229435.1:p.Asp256Gly, NP_001229436.1:p.Asp256Gly, NP_001229434.1:p.Asp330Gly, NP_001338500.1:p.Asp288Gly, NP_001338501.1:p.Asp330Gly, NP_001338502.1:p.Asp330Gly, XP_011517519.1:p.Asp368Gly, XP_011517520.1:p.Asp328Gly, XP_011517524.1:p.Asp368Gly, XP_011517517.1:p.Asp368Gly, XP_005252374.1:p.Asp330Gly, XP_011517515.1:p.Asp368Gly, XP_011517518.1:p.Asp368Gly, XP_016870827.1:p.Asp308Gly, XP_011517521.1:p.Asp326Gly, XP_011517522.1:p.Asp288Gly, XP_024303488.1:p.Asp330Gly, XP_016870829.1:p.Asp160Gly, XP_011517525.1:p.Asp160Gly, XP_047280058.1:p.Asp328Gly, XP_047280060.1:p.Asp308Gly, XP_047280065.1:p.Asp294Gly, XP_047280057.1:p.Asp337Gly, XP_047280064.1:p.Asp288Gly, XP_047280062.1:p.Asp288Gly, XP_047280055.1:p.Asp368Gly, XP_047280059.1:p.Asp330Gly, XP_047280063.1:p.Asp288Gly

            6.

            rs1479858882 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:72231123 (GRCh38)
              9:74846039 (GRCh37)
              Canonical SPDI:
              NC_000009.12:72231122:T:C
              Gene:
              GDA (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000009.12:g.72231123T>C, NC_000009.11:g.74846039T>C, NG_030562.1:g.121529T>C, NM_004293.5:c.930T>C, NM_004293.4:c.930T>C, NM_001242506.3:c.708T>C, NM_001242506.2:c.708T>C, NM_001242507.3:c.708T>C, NM_001242507.2:c.708T>C, NM_001242505.3:c.930T>C, NM_001242505.2:c.930T>C, NM_001351571.2:c.804T>C, NM_001351571.1:c.804T>C, NR_147240.2:n.1050T>C, NR_147240.1:n.1139T>C, NM_001351572.2:c.930T>C, NM_001351572.1:c.930T>C, NM_001351573.2:c.930T>C, NM_001351573.1:c.930T>C, XR_001746423.3:n.1164T>C, XR_001746423.2:n.1242T>C, XR_001746423.1:n.1251T>C, XM_011519217.3:c.1044T>C, XM_011519217.2:c.1044T>C, XM_011519217.1:c.1044T>C, XR_001746424.3:n.1164T>C, XR_001746424.2:n.1242T>C, XR_001746424.1:n.1251T>C, XM_011519218.3:c.924T>C, XM_011519218.2:c.924T>C, XM_011519218.1:c.924T>C, XM_011519222.3:c.1044T>C, XM_011519222.2:c.1044T>C, XM_011519222.1:c.1044T>C, XM_011519215.3:c.1044T>C, XM_011519215.2:c.1044T>C, XM_011519215.1:c.1044T>C, XM_005252317.3:c.930T>C, XM_005252317.2:c.930T>C, XM_005252317.1:c.930T>C, XM_011519213.3:c.1044T>C, XM_011519213.2:c.1044T>C, XM_011519213.1:c.1044T>C, XM_011519216.3:c.1044T>C, XM_011519216.2:c.1044T>C, XM_011519216.1:c.1044T>C, XR_929878.3:n.1164T>C, XR_929878.2:n.1242T>C, XR_929878.1:n.1251T>C, XM_017015338.2:c.864T>C, XM_017015338.1:c.864T>C, XM_011519219.2:c.918T>C, XM_011519219.1:c.918T>C, XM_011519220.2:c.804T>C, XM_011519220.1:c.804T>C, XM_024447720.2:c.930T>C, XM_024447720.1:c.930T>C, XM_017015340.2:c.420T>C, XM_017015340.1:c.420T>C, XM_011519223.2:c.420T>C, XM_011519223.1:c.420T>C, XR_007061378.1:n.1164T>C, XR_007061379.1:n.1164T>C, XR_007061380.1:n.1164T>C, XR_007061376.1:n.1164T>C, XR_007061381.1:n.1050T>C, XM_047424102.1:c.924T>C, XR_007061377.1:n.1164T>C, XM_047424104.1:c.864T>C, XM_047424109.1:c.822T>C, XM_047424101.1:c.951T>C, XM_047424108.1:c.804T>C, XM_047424106.1:c.804T>C, XM_047424099.1:c.1044T>C, XM_047424103.1:c.930T>C, XM_047424107.1:c.804T>C

              7.

              rs1473894348 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                9:72208268 (GRCh38)
                9:74823184 (GRCh37)
                Canonical SPDI:
                NC_000009.12:72208267:T:C
                Gene:
                GDA (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000011/3 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000009.12:g.72208268T>C, NC_000009.11:g.74823184T>C, NG_030562.1:g.98674T>C, XR_001746423.3:n.548T>C, XR_001746423.2:n.626T>C, XR_001746423.1:n.635T>C, XM_011519217.3:c.428T>C, XM_011519217.2:c.428T>C, XM_011519217.1:c.428T>C, XR_001746424.3:n.548T>C, XR_001746424.2:n.626T>C, XR_001746424.1:n.635T>C, XM_011519218.3:c.308T>C, XM_011519218.2:c.308T>C, XM_011519218.1:c.308T>C, XM_011519222.3:c.428T>C, XM_011519222.2:c.428T>C, XM_011519222.1:c.428T>C, XM_011519215.3:c.428T>C, XM_011519215.2:c.428T>C, XM_011519215.1:c.428T>C, XM_011519213.3:c.428T>C, XM_011519213.2:c.428T>C, XM_011519213.1:c.428T>C, XM_011519216.3:c.428T>C, XM_011519216.2:c.428T>C, XM_011519216.1:c.428T>C, XR_929878.3:n.548T>C, XR_929878.2:n.626T>C, XR_929878.1:n.635T>C, XM_017015338.2:c.248T>C, XM_017015338.1:c.248T>C, XM_011519219.2:c.302T>C, XM_011519219.1:c.302T>C, XM_011519223.2:c.-153T>C, XM_011519223.1:c.-153T>C, XR_007061378.1:n.548T>C, XR_007061379.1:n.548T>C, XR_007061380.1:n.548T>C, XR_007061376.1:n.548T>C, XM_047424102.1:c.308T>C, XR_007061377.1:n.548T>C, XM_047424104.1:c.248T>C, XM_047424109.1:c.206T>C, XM_047424101.1:c.335T>C, XM_047424099.1:c.428T>C, XP_011517519.1:p.Phe143Ser, XP_011517520.1:p.Phe103Ser, XP_011517524.1:p.Phe143Ser, XP_011517517.1:p.Phe143Ser, XP_011517515.1:p.Phe143Ser, XP_011517518.1:p.Phe143Ser, XP_016870827.1:p.Phe83Ser, XP_011517521.1:p.Phe101Ser, XP_047280058.1:p.Phe103Ser, XP_047280060.1:p.Phe83Ser, XP_047280065.1:p.Phe69Ser, XP_047280057.1:p.Phe112Ser, XP_047280055.1:p.Phe143Ser

                8.

                rs1472421183 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:72225680 (GRCh38)
                  9:74840596 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:72225679:C:T
                  Gene:
                  GDA (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.72225680C>T, NC_000009.11:g.74840596C>T, NG_030562.1:g.116086C>T, NM_004293.5:c.718C>T, NM_004293.4:c.718C>T, NM_001242506.3:c.496C>T, NM_001242506.2:c.496C>T, NM_001242507.3:c.496C>T, NM_001242507.2:c.496C>T, NM_001242505.3:c.718C>T, NM_001242505.2:c.718C>T, NM_001351571.2:c.592C>T, NM_001351571.1:c.592C>T, NR_147240.2:n.838C>T, NR_147240.1:n.927C>T, NM_001351572.2:c.718C>T, NM_001351572.1:c.718C>T, NM_001351573.2:c.718C>T, NM_001351573.1:c.718C>T, XR_001746423.3:n.952C>T, XR_001746423.2:n.1030C>T, XR_001746423.1:n.1039C>T, XM_011519217.3:c.832C>T, XM_011519217.2:c.832C>T, XM_011519217.1:c.832C>T, XR_001746424.3:n.952C>T, XR_001746424.2:n.1030C>T, XR_001746424.1:n.1039C>T, XM_011519218.3:c.712C>T, XM_011519218.2:c.712C>T, XM_011519218.1:c.712C>T, XM_011519222.3:c.832C>T, XM_011519222.2:c.832C>T, XM_011519222.1:c.832C>T, XM_011519215.3:c.832C>T, XM_011519215.2:c.832C>T, XM_011519215.1:c.832C>T, XM_005252317.3:c.718C>T, XM_005252317.2:c.718C>T, XM_005252317.1:c.718C>T, XM_011519213.3:c.832C>T, XM_011519213.2:c.832C>T, XM_011519213.1:c.832C>T, XM_011519216.3:c.832C>T, XM_011519216.2:c.832C>T, XM_011519216.1:c.832C>T, XR_929878.3:n.952C>T, XR_929878.2:n.1030C>T, XR_929878.1:n.1039C>T, XM_017015338.2:c.652C>T, XM_017015338.1:c.652C>T, XM_011519219.2:c.706C>T, XM_011519219.1:c.706C>T, XM_011519220.2:c.592C>T, XM_011519220.1:c.592C>T, XM_024447720.2:c.718C>T, XM_024447720.1:c.718C>T, XM_017015340.2:c.208C>T, XM_017015340.1:c.208C>T, XM_011519223.2:c.208C>T, XM_011519223.1:c.208C>T, XR_007061378.1:n.952C>T, XR_007061379.1:n.952C>T, XR_007061380.1:n.952C>T, XR_007061376.1:n.952C>T, XR_007061381.1:n.838C>T, XM_047424102.1:c.712C>T, XR_007061377.1:n.952C>T, XM_047424104.1:c.652C>T, XM_047424109.1:c.610C>T, XM_047424101.1:c.739C>T, XM_047424108.1:c.592C>T, XM_047424106.1:c.592C>T, XM_047424099.1:c.832C>T, XM_047424103.1:c.718C>T, XM_047424107.1:c.592C>T, NP_004284.1:p.His240Tyr, NP_001229435.1:p.His166Tyr, NP_001229436.1:p.His166Tyr, NP_001229434.1:p.His240Tyr, NP_001338500.1:p.His198Tyr, NP_001338501.1:p.His240Tyr, NP_001338502.1:p.His240Tyr, XP_011517519.1:p.His278Tyr, XP_011517520.1:p.His238Tyr, XP_011517524.1:p.His278Tyr, XP_011517517.1:p.His278Tyr, XP_005252374.1:p.His240Tyr, XP_011517515.1:p.His278Tyr, XP_011517518.1:p.His278Tyr, XP_016870827.1:p.His218Tyr, XP_011517521.1:p.His236Tyr, XP_011517522.1:p.His198Tyr, XP_024303488.1:p.His240Tyr, XP_016870829.1:p.His70Tyr, XP_011517525.1:p.His70Tyr, XP_047280058.1:p.His238Tyr, XP_047280060.1:p.His218Tyr, XP_047280065.1:p.His204Tyr, XP_047280057.1:p.His247Tyr, XP_047280064.1:p.His198Tyr, XP_047280062.1:p.His198Tyr, XP_047280055.1:p.His278Tyr, XP_047280059.1:p.His240Tyr, XP_047280063.1:p.His198Tyr

                  9.

                  rs1472134659 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GCCGACATT>- [Show Flanks]
                    Chromosome:
                    9:72210762 (GRCh38)
                    9:74825678 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:72210759:TTGCCGACATT:TT
                    Gene:
                    GDA (Varview)
                    Functional Consequence:
                    coding_sequence_variant,inframe_deletion,5_prime_UTR_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.72210762_72210770del, NC_000009.11:g.74825678_74825686del, NG_030562.1:g.101168_101176del, NM_004293.5:c.460_468del, NM_004293.4:c.460_468del, NM_001242506.3:c.238_246del, NM_001242506.2:c.238_246del, NM_001242507.3:c.238_246del, NM_001242507.2:c.238_246del, NM_001242505.3:c.460_468del, NM_001242505.2:c.460_468del, NM_001351571.2:c.334_342del, NM_001351571.1:c.334_342del, NR_147240.2:n.580_588del, NR_147240.1:n.669_677del, NM_001351572.2:c.460_468del, NM_001351572.1:c.460_468del, NM_001351573.2:c.460_468del, NM_001351573.1:c.460_468del, XR_001746423.3:n.694_702del, XR_001746423.2:n.772_780del, XR_001746423.1:n.781_789del, XM_011519217.3:c.574_582del, XM_011519217.2:c.574_582del, XM_011519217.1:c.574_582del, XR_001746424.3:n.694_702del, XR_001746424.2:n.772_780del, XR_001746424.1:n.781_789del, XM_011519218.3:c.454_462del, XM_011519218.2:c.454_462del, XM_011519218.1:c.454_462del, XM_011519222.3:c.574_582del, XM_011519222.2:c.574_582del, XM_011519222.1:c.574_582del, XM_011519215.3:c.574_582del, XM_011519215.2:c.574_582del, XM_011519215.1:c.574_582del, XM_005252317.3:c.460_468del, XM_005252317.2:c.460_468del, XM_005252317.1:c.460_468del, XM_011519213.3:c.574_582del, XM_011519213.2:c.574_582del, XM_011519213.1:c.574_582del, XM_011519216.3:c.574_582del, XM_011519216.2:c.574_582del, XM_011519216.1:c.574_582del, XR_929878.3:n.694_702del, XR_929878.2:n.772_780del, XR_929878.1:n.781_789del, XM_017015338.2:c.394_402del, XM_017015338.1:c.394_402del, XM_011519219.2:c.448_456del, XM_011519219.1:c.448_456del, XM_011519220.2:c.334_342del, XM_011519220.1:c.334_342del, XM_024447720.2:c.460_468del, XM_024447720.1:c.460_468del, XM_017015340.2:c.-51_-43del, XM_017015340.1:c.-51_-43del, XM_011519223.2:c.-51_-43del, XM_011519223.1:c.-51_-43del, XR_007061378.1:n.694_702del, XR_007061379.1:n.694_702del, XR_007061380.1:n.694_702del, XR_007061376.1:n.694_702del, XR_007061381.1:n.580_588del, XM_047424102.1:c.454_462del, XR_007061377.1:n.694_702del, XM_047424104.1:c.394_402del, XM_047424109.1:c.352_360del, XM_047424101.1:c.481_489del, XM_047424108.1:c.334_342del, XM_047424106.1:c.334_342del, XM_047424099.1:c.574_582del, XM_047424103.1:c.460_468del, XM_047424107.1:c.334_342del, NP_004284.1:p.Ala154_Ile156del, NP_001229435.1:p.Ala80_Ile82del, NP_001229436.1:p.Ala80_Ile82del, NP_001229434.1:p.Ala154_Ile156del, NP_001338500.1:p.Ala112_Ile114del, NP_001338501.1:p.Ala154_Ile156del, NP_001338502.1:p.Ala154_Ile156del, XP_011517519.1:p.Ala192_Ile194del, XP_011517520.1:p.Ala152_Ile154del, XP_011517524.1:p.Ala192_Ile194del, XP_011517517.1:p.Ala192_Ile194del, XP_005252374.1:p.Ala154_Ile156del, XP_011517515.1:p.Ala192_Ile194del, XP_011517518.1:p.Ala192_Ile194del, XP_016870827.1:p.Ala132_Ile134del, XP_011517521.1:p.Ala150_Ile152del, XP_011517522.1:p.Ala112_Ile114del, XP_024303488.1:p.Ala154_Ile156del, XP_047280058.1:p.Ala152_Ile154del, XP_047280060.1:p.Ala132_Ile134del, XP_047280065.1:p.Ala118_Ile120del, XP_047280057.1:p.Ala161_Ile163del, XP_047280064.1:p.Ala112_Ile114del, XP_047280062.1:p.Ala112_Ile114del, XP_047280055.1:p.Ala192_Ile194del, XP_047280059.1:p.Ala154_Ile156del, XP_047280063.1:p.Ala112_Ile114del

                    10.

                    rs1471389052 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      9:72202717 (GRCh38)
                      9:74817633 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:72202716:C:A
                      Gene:
                      GDA (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000224/1 (ALFA)
                      A=0.000007/1 (GnomAD)
                      A=0.000223/1 (Estonian)
                      HGVS:
                      NC_000009.12:g.72202717C>A, NC_000009.11:g.74817633C>A, NG_030562.1:g.93123C>A, NM_004293.5:c.359C>A, NM_004293.4:c.359C>A, NM_001242506.3:c.137C>A, NM_001242506.2:c.137C>A, NM_001242507.3:c.137C>A, NM_001242507.2:c.137C>A, NM_001242505.3:c.359C>A, NM_001242505.2:c.359C>A, NM_001351571.2:c.233C>A, NM_001351571.1:c.233C>A, NR_147240.2:n.479C>A, NR_147240.1:n.568C>A, NM_001351572.2:c.359C>A, NM_001351572.1:c.359C>A, NM_001351573.2:c.359C>A, NM_001351573.1:c.359C>A, XR_001746423.3:n.479C>A, XR_001746423.2:n.557C>A, XR_001746423.1:n.566C>A, XM_011519217.3:c.359C>A, XM_011519217.2:c.359C>A, XM_011519217.1:c.359C>A, XR_001746424.3:n.479C>A, XR_001746424.2:n.557C>A, XR_001746424.1:n.566C>A, XM_011519218.3:c.239C>A, XM_011519218.2:c.239C>A, XM_011519218.1:c.239C>A, XM_011519222.3:c.359C>A, XM_011519222.2:c.359C>A, XM_011519222.1:c.359C>A, XM_011519215.3:c.359C>A, XM_011519215.2:c.359C>A, XM_011519215.1:c.359C>A, XM_005252317.3:c.359C>A, XM_005252317.2:c.359C>A, XM_005252317.1:c.359C>A, XM_011519213.3:c.359C>A, XM_011519213.2:c.359C>A, XM_011519213.1:c.359C>A, XM_011519216.3:c.359C>A, XM_011519216.2:c.359C>A, XM_011519216.1:c.359C>A, XR_929878.3:n.479C>A, XR_929878.2:n.557C>A, XR_929878.1:n.566C>A, XM_017015338.2:c.179C>A, XM_017015338.1:c.179C>A, XM_011519219.2:c.233C>A, XM_011519219.1:c.233C>A, XM_011519220.2:c.233C>A, XM_011519220.1:c.233C>A, XM_024447720.2:c.359C>A, XM_024447720.1:c.359C>A, XR_007061378.1:n.479C>A, XR_007061379.1:n.479C>A, XR_007061380.1:n.479C>A, XR_007061376.1:n.479C>A, XR_007061381.1:n.479C>A, XM_047424102.1:c.239C>A, XR_007061377.1:n.479C>A, XM_047424104.1:c.179C>A, XM_047424109.1:c.137C>A, XM_047424101.1:c.266C>A, XM_047424108.1:c.233C>A, XM_047424106.1:c.233C>A, XM_047424099.1:c.359C>A, XM_047424103.1:c.359C>A, XM_047424107.1:c.233C>A, NP_004284.1:p.Ala120Glu, NP_001229435.1:p.Ala46Glu, NP_001229436.1:p.Ala46Glu, NP_001229434.1:p.Ala120Glu, NP_001338500.1:p.Ala78Glu, NP_001338501.1:p.Ala120Glu, NP_001338502.1:p.Ala120Glu, XP_011517519.1:p.Ala120Glu, XP_011517520.1:p.Ala80Glu, XP_011517524.1:p.Ala120Glu, XP_011517517.1:p.Ala120Glu, XP_005252374.1:p.Ala120Glu, XP_011517515.1:p.Ala120Glu, XP_011517518.1:p.Ala120Glu, XP_016870827.1:p.Ala60Glu, XP_011517521.1:p.Ala78Glu, XP_011517522.1:p.Ala78Glu, XP_024303488.1:p.Ala120Glu, XP_047280058.1:p.Ala80Glu, XP_047280060.1:p.Ala60Glu, XP_047280065.1:p.Ala46Glu, XP_047280057.1:p.Ala89Glu, XP_047280064.1:p.Ala78Glu, XP_047280062.1:p.Ala78Glu, XP_047280055.1:p.Ala120Glu, XP_047280059.1:p.Ala120Glu, XP_047280063.1:p.Ala78Glu

                      11.

                      rs1461134797 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:72227946 (GRCh38)
                        9:74842862 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:72227945:G:A
                        Gene:
                        GDA (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.72227946G>A, NC_000009.11:g.74842862G>A, NG_030562.1:g.118352G>A, NM_004293.5:c.826G>A, NM_004293.4:c.826G>A, NM_001242506.3:c.604G>A, NM_001242506.2:c.604G>A, NM_001242507.3:c.604G>A, NM_001242507.2:c.604G>A, NM_001242505.3:c.826G>A, NM_001242505.2:c.826G>A, NM_001351571.2:c.700G>A, NM_001351571.1:c.700G>A, NR_147240.2:n.946G>A, NR_147240.1:n.1035G>A, NM_001351572.2:c.826G>A, NM_001351572.1:c.826G>A, NM_001351573.2:c.826G>A, NM_001351573.1:c.826G>A, XR_001746423.3:n.1060G>A, XR_001746423.2:n.1138G>A, XR_001746423.1:n.1147G>A, XM_011519217.3:c.940G>A, XM_011519217.2:c.940G>A, XM_011519217.1:c.940G>A, XR_001746424.3:n.1060G>A, XR_001746424.2:n.1138G>A, XR_001746424.1:n.1147G>A, XM_011519218.3:c.820G>A, XM_011519218.2:c.820G>A, XM_011519218.1:c.820G>A, XM_011519222.3:c.940G>A, XM_011519222.2:c.940G>A, XM_011519222.1:c.940G>A, XM_011519215.3:c.940G>A, XM_011519215.2:c.940G>A, XM_011519215.1:c.940G>A, XM_005252317.3:c.826G>A, XM_005252317.2:c.826G>A, XM_005252317.1:c.826G>A, XM_011519213.3:c.940G>A, XM_011519213.2:c.940G>A, XM_011519213.1:c.940G>A, XM_011519216.3:c.940G>A, XM_011519216.2:c.940G>A, XM_011519216.1:c.940G>A, XR_929878.3:n.1060G>A, XR_929878.2:n.1138G>A, XR_929878.1:n.1147G>A, XM_017015338.2:c.760G>A, XM_017015338.1:c.760G>A, XM_011519219.2:c.814G>A, XM_011519219.1:c.814G>A, XM_011519220.2:c.700G>A, XM_011519220.1:c.700G>A, XM_024447720.2:c.826G>A, XM_024447720.1:c.826G>A, XM_017015340.2:c.316G>A, XM_017015340.1:c.316G>A, XM_011519223.2:c.316G>A, XM_011519223.1:c.316G>A, XR_007061378.1:n.1060G>A, XR_007061379.1:n.1060G>A, XR_007061380.1:n.1060G>A, XR_007061376.1:n.1060G>A, XR_007061381.1:n.946G>A, XM_047424102.1:c.820G>A, XR_007061377.1:n.1060G>A, XM_047424104.1:c.760G>A, XM_047424109.1:c.718G>A, XM_047424101.1:c.847G>A, XM_047424108.1:c.700G>A, XM_047424106.1:c.700G>A, XM_047424099.1:c.940G>A, XM_047424103.1:c.826G>A, XM_047424107.1:c.700G>A, NP_004284.1:p.Val276Met, NP_001229435.1:p.Val202Met, NP_001229436.1:p.Val202Met, NP_001229434.1:p.Val276Met, NP_001338500.1:p.Val234Met, NP_001338501.1:p.Val276Met, NP_001338502.1:p.Val276Met, XP_011517519.1:p.Val314Met, XP_011517520.1:p.Val274Met, XP_011517524.1:p.Val314Met, XP_011517517.1:p.Val314Met, XP_005252374.1:p.Val276Met, XP_011517515.1:p.Val314Met, XP_011517518.1:p.Val314Met, XP_016870827.1:p.Val254Met, XP_011517521.1:p.Val272Met, XP_011517522.1:p.Val234Met, XP_024303488.1:p.Val276Met, XP_016870829.1:p.Val106Met, XP_011517525.1:p.Val106Met, XP_047280058.1:p.Val274Met, XP_047280060.1:p.Val254Met, XP_047280065.1:p.Val240Met, XP_047280057.1:p.Val283Met, XP_047280064.1:p.Val234Met, XP_047280062.1:p.Val234Met, XP_047280055.1:p.Val314Met, XP_047280059.1:p.Val276Met, XP_047280063.1:p.Val234Met

                        12.

                        rs1460204903 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:72250763 (GRCh38)
                          9:74865679 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:72250762:C:T
                          Gene:
                          GDA (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.0001/1 (ALFA)
                          HGVS:
                          NC_000009.12:g.72250763C>T, NC_000009.11:g.74865679C>T, NG_030562.1:g.141169C>T, NM_004293.5:c.*2421C>T, NM_004293.4:c.*2421C>T, NM_001242506.3:c.*2421C>T, NM_001242506.2:c.*2421C>T, NM_001242507.3:c.*2421C>T, NM_001242507.2:c.*2421C>T, NM_001242505.3:c.1375C>T, NM_001242505.2:c.1375C>T, NM_001351571.2:c.*2421C>T, NM_001351571.1:c.*2421C>T, NR_147240.2:n.1563C>T, NR_147240.1:n.1652C>T, NM_001351572.2:c.1375C>T, NM_001351572.1:c.1375C>T, NM_001351573.2:c.1308C>T, NM_001351573.1:c.1308C>T, XR_001746423.3:n.1609C>T, XR_001746423.2:n.1687C>T, XR_001746423.1:n.1696C>T, XM_011519217.3:c.*2421C>T, XM_011519217.2:c.*2421C>T, XM_011519217.1:c.*2421C>T, XR_001746424.3:n.4020C>T, XR_001746424.2:n.4098C>T, XR_001746424.1:n.4107C>T, XM_011519218.3:c.1369C>T, XM_011519218.2:c.1369C>T, XM_011519218.1:c.1369C>T, XM_011519222.3:c.1489C>T, XM_011519222.2:c.1489C>T, XM_011519222.1:c.1489C>T, XM_011519215.3:c.1422C>T, XM_011519215.2:c.1422C>T, XM_011519215.1:c.1422C>T, XM_005252317.3:c.1375C>T, XM_005252317.2:c.1375C>T, XM_005252317.1:c.1375C>T, XM_011519213.3:c.1489C>T, XM_011519213.2:c.1489C>T, XM_011519213.1:c.1489C>T, XM_011519216.3:c.1422C>T, XM_011519216.2:c.1422C>T, XM_011519216.1:c.1422C>T, XR_929878.3:n.1677C>T, XR_929878.2:n.1755C>T, XR_929878.1:n.1764C>T, XM_017015338.2:c.1309C>T, XM_017015338.1:c.1309C>T, XM_011519219.2:c.1363C>T, XM_011519219.1:c.1363C>T, XM_011519220.2:c.1249C>T, XM_011519220.1:c.1249C>T, XM_024447720.2:c.1308C>T, XM_024447720.1:c.1308C>T, XM_017015340.2:c.865C>T, XM_017015340.1:c.865C>T, XM_011519223.2:c.865C>T, XM_011519223.1:c.865C>T, XR_007061378.1:n.1609C>T, XR_007061379.1:n.1542C>T, XR_007061380.1:n.4020C>T, XR_007061376.1:n.1609C>T, XR_007061381.1:n.1428C>T, XM_047424102.1:c.1369C>T, XR_007061377.1:n.1609C>T, XM_047424104.1:c.1309C>T, XM_047424109.1:c.1267C>T, XM_047424101.1:c.1396C>T, XM_047424108.1:c.1182C>T, XM_047424106.1:c.1249C>T, XM_047424099.1:c.1422C>T, XM_047424103.1:c.1308C>T, XM_047424107.1:c.1249C>T, NP_001229434.1:p.His459Tyr, NP_001338501.1:p.His459Tyr, XP_011517520.1:p.His457Tyr, XP_011517524.1:p.His497Tyr, XP_005252374.1:p.His459Tyr, XP_011517515.1:p.His497Tyr, XP_016870827.1:p.His437Tyr, XP_011517521.1:p.His455Tyr, XP_011517522.1:p.His417Tyr, XP_016870829.1:p.His289Tyr, XP_011517525.1:p.His289Tyr, XP_047280058.1:p.His457Tyr, XP_047280060.1:p.His437Tyr, XP_047280065.1:p.His423Tyr, XP_047280057.1:p.His466Tyr, XP_047280062.1:p.His417Tyr, XP_047280063.1:p.His417Tyr

                          13.

                          rs1450209040 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            9:72208297 (GRCh38)
                            9:74823213 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:72208296:A:G
                            Gene:
                            GDA (Varview)
                            Functional Consequence:
                            intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000009.12:g.72208297A>G, NC_000009.11:g.74823213A>G, NG_030562.1:g.98703A>G, XR_001746423.3:n.577A>G, XR_001746423.2:n.655A>G, XR_001746423.1:n.664A>G, XM_011519217.3:c.457A>G, XM_011519217.2:c.457A>G, XM_011519217.1:c.457A>G, XR_001746424.3:n.577A>G, XR_001746424.2:n.655A>G, XR_001746424.1:n.664A>G, XM_011519218.3:c.337A>G, XM_011519218.2:c.337A>G, XM_011519218.1:c.337A>G, XM_011519222.3:c.457A>G, XM_011519222.2:c.457A>G, XM_011519222.1:c.457A>G, XM_011519215.3:c.457A>G, XM_011519215.2:c.457A>G, XM_011519215.1:c.457A>G, XM_011519213.3:c.457A>G, XM_011519213.2:c.457A>G, XM_011519213.1:c.457A>G, XM_011519216.3:c.457A>G, XM_011519216.2:c.457A>G, XM_011519216.1:c.457A>G, XR_929878.3:n.577A>G, XR_929878.2:n.655A>G, XR_929878.1:n.664A>G, XM_017015338.2:c.277A>G, XM_017015338.1:c.277A>G, XM_011519219.2:c.331A>G, XM_011519219.1:c.331A>G, XR_007061378.1:n.577A>G, XR_007061379.1:n.577A>G, XR_007061380.1:n.577A>G, XR_007061376.1:n.577A>G, XM_047424102.1:c.337A>G, XR_007061377.1:n.577A>G, XM_047424104.1:c.277A>G, XM_047424109.1:c.235A>G, XM_047424101.1:c.364A>G, XM_047424099.1:c.457A>G, XP_011517519.1:p.Lys153Glu, XP_011517520.1:p.Lys113Glu, XP_011517524.1:p.Lys153Glu, XP_011517517.1:p.Lys153Glu, XP_011517515.1:p.Lys153Glu, XP_011517518.1:p.Lys153Glu, XP_016870827.1:p.Lys93Glu, XP_011517521.1:p.Lys111Glu, XP_047280058.1:p.Lys113Glu, XP_047280060.1:p.Lys93Glu, XP_047280065.1:p.Lys79Glu, XP_047280057.1:p.Lys122Glu, XP_047280055.1:p.Lys153Glu

                            14.

                            rs1449645806 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              9:72213954 (GRCh38)
                              9:74828870 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:72213953:A:C
                              Gene:
                              GDA (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.72213954A>C, NC_000009.11:g.74828870A>C, NG_030562.1:g.104360A>C, NM_004293.5:c.541A>C, NM_004293.4:c.541A>C, NM_001242506.3:c.319A>C, NM_001242506.2:c.319A>C, NM_001242507.3:c.319A>C, NM_001242507.2:c.319A>C, NM_001242505.3:c.541A>C, NM_001242505.2:c.541A>C, NM_001351571.2:c.415A>C, NM_001351571.1:c.415A>C, NR_147240.2:n.661A>C, NR_147240.1:n.750A>C, NM_001351572.2:c.541A>C, NM_001351572.1:c.541A>C, NM_001351573.2:c.541A>C, NM_001351573.1:c.541A>C, XR_001746423.3:n.775A>C, XR_001746423.2:n.853A>C, XR_001746423.1:n.862A>C, XM_011519217.3:c.655A>C, XM_011519217.2:c.655A>C, XM_011519217.1:c.655A>C, XR_001746424.3:n.775A>C, XR_001746424.2:n.853A>C, XR_001746424.1:n.862A>C, XM_011519218.3:c.535A>C, XM_011519218.2:c.535A>C, XM_011519218.1:c.535A>C, XM_011519222.3:c.655A>C, XM_011519222.2:c.655A>C, XM_011519222.1:c.655A>C, XM_011519215.3:c.655A>C, XM_011519215.2:c.655A>C, XM_011519215.1:c.655A>C, XM_005252317.3:c.541A>C, XM_005252317.2:c.541A>C, XM_005252317.1:c.541A>C, XM_011519213.3:c.655A>C, XM_011519213.2:c.655A>C, XM_011519213.1:c.655A>C, XM_011519216.3:c.655A>C, XM_011519216.2:c.655A>C, XM_011519216.1:c.655A>C, XR_929878.3:n.775A>C, XR_929878.2:n.853A>C, XR_929878.1:n.862A>C, XM_017015338.2:c.475A>C, XM_017015338.1:c.475A>C, XM_011519219.2:c.529A>C, XM_011519219.1:c.529A>C, XM_011519220.2:c.415A>C, XM_011519220.1:c.415A>C, XM_024447720.2:c.541A>C, XM_024447720.1:c.541A>C, XM_017015340.2:c.31A>C, XM_017015340.1:c.31A>C, XM_011519223.2:c.31A>C, XM_011519223.1:c.31A>C, XR_007061378.1:n.775A>C, XR_007061379.1:n.775A>C, XR_007061380.1:n.775A>C, XR_007061376.1:n.775A>C, XR_007061381.1:n.661A>C, XM_047424102.1:c.535A>C, XR_007061377.1:n.775A>C, XM_047424104.1:c.475A>C, XM_047424109.1:c.433A>C, XM_047424101.1:c.562A>C, XM_047424108.1:c.415A>C, XM_047424106.1:c.415A>C, XM_047424099.1:c.655A>C, XM_047424103.1:c.541A>C, XM_047424107.1:c.415A>C, NP_004284.1:p.Lys181Gln, NP_001229435.1:p.Lys107Gln, NP_001229436.1:p.Lys107Gln, NP_001229434.1:p.Lys181Gln, NP_001338500.1:p.Lys139Gln, NP_001338501.1:p.Lys181Gln, NP_001338502.1:p.Lys181Gln, XP_011517519.1:p.Lys219Gln, XP_011517520.1:p.Lys179Gln, XP_011517524.1:p.Lys219Gln, XP_011517517.1:p.Lys219Gln, XP_005252374.1:p.Lys181Gln, XP_011517515.1:p.Lys219Gln, XP_011517518.1:p.Lys219Gln, XP_016870827.1:p.Lys159Gln, XP_011517521.1:p.Lys177Gln, XP_011517522.1:p.Lys139Gln, XP_024303488.1:p.Lys181Gln, XP_016870829.1:p.Lys11Gln, XP_011517525.1:p.Lys11Gln, XP_047280058.1:p.Lys179Gln, XP_047280060.1:p.Lys159Gln, XP_047280065.1:p.Lys145Gln, XP_047280057.1:p.Lys188Gln, XP_047280064.1:p.Lys139Gln, XP_047280062.1:p.Lys139Gln, XP_047280055.1:p.Lys219Gln, XP_047280059.1:p.Lys181Gln, XP_047280063.1:p.Lys139Gln

                              15.

                              rs1446633717 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:72202607 (GRCh38)
                                9:74817523 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:72202606:C:T
                                Gene:
                                GDA (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000009.12:g.72202607C>T, NC_000009.11:g.74817523C>T, NG_030562.1:g.93013C>T, NM_004293.5:c.249C>T, NM_004293.4:c.249C>T, NM_001242506.3:c.27C>T, NM_001242506.2:c.27C>T, NM_001242507.3:c.27C>T, NM_001242507.2:c.27C>T, NM_001242505.3:c.249C>T, NM_001242505.2:c.249C>T, NM_001351571.2:c.123C>T, NM_001351571.1:c.123C>T, NR_147240.2:n.369C>T, NR_147240.1:n.458C>T, NM_001351572.2:c.249C>T, NM_001351572.1:c.249C>T, NM_001351573.2:c.249C>T, NM_001351573.1:c.249C>T, XR_001746423.3:n.369C>T, XR_001746423.2:n.447C>T, XR_001746423.1:n.456C>T, XM_011519217.3:c.249C>T, XM_011519217.2:c.249C>T, XM_011519217.1:c.249C>T, XR_001746424.3:n.369C>T, XR_001746424.2:n.447C>T, XR_001746424.1:n.456C>T, XM_011519218.3:c.129C>T, XM_011519218.2:c.129C>T, XM_011519218.1:c.129C>T, XM_011519222.3:c.249C>T, XM_011519222.2:c.249C>T, XM_011519222.1:c.249C>T, XM_011519215.3:c.249C>T, XM_011519215.2:c.249C>T, XM_011519215.1:c.249C>T, XM_005252317.3:c.249C>T, XM_005252317.2:c.249C>T, XM_005252317.1:c.249C>T, XM_011519213.3:c.249C>T, XM_011519213.2:c.249C>T, XM_011519213.1:c.249C>T, XM_011519216.3:c.249C>T, XM_011519216.2:c.249C>T, XM_011519216.1:c.249C>T, XR_929878.3:n.369C>T, XR_929878.2:n.447C>T, XR_929878.1:n.456C>T, XM_017015338.2:c.69C>T, XM_017015338.1:c.69C>T, XM_011519219.2:c.123C>T, XM_011519219.1:c.123C>T, XM_011519220.2:c.123C>T, XM_011519220.1:c.123C>T, XM_024447720.2:c.249C>T, XM_024447720.1:c.249C>T, XR_007061378.1:n.369C>T, XR_007061379.1:n.369C>T, XR_007061380.1:n.369C>T, XR_007061376.1:n.369C>T, XR_007061381.1:n.369C>T, XM_047424102.1:c.129C>T, XR_007061377.1:n.369C>T, XM_047424104.1:c.69C>T, XM_047424109.1:c.27C>T, XM_047424101.1:c.156C>T, XM_047424108.1:c.123C>T, XM_047424106.1:c.123C>T, XM_047424099.1:c.249C>T, XM_047424103.1:c.249C>T, XM_047424107.1:c.123C>T

                                16.

                                rs1443505589 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A [Show Flanks]
                                  Chromosome:
                                  9:72227996 (GRCh38)
                                  9:74842912 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:72227995:T:A
                                  Gene:
                                  GDA (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.72227996T>A, NC_000009.11:g.74842912T>A, NG_030562.1:g.118402T>A, NM_004293.5:c.876T>A, NM_004293.4:c.876T>A, NM_001242506.3:c.654T>A, NM_001242506.2:c.654T>A, NM_001242507.3:c.654T>A, NM_001242507.2:c.654T>A, NM_001242505.3:c.876T>A, NM_001242505.2:c.876T>A, NM_001351571.2:c.750T>A, NM_001351571.1:c.750T>A, NR_147240.2:n.996T>A, NR_147240.1:n.1085T>A, NM_001351572.2:c.876T>A, NM_001351572.1:c.876T>A, NM_001351573.2:c.876T>A, NM_001351573.1:c.876T>A, XR_001746423.3:n.1110T>A, XR_001746423.2:n.1188T>A, XR_001746423.1:n.1197T>A, XM_011519217.3:c.990T>A, XM_011519217.2:c.990T>A, XM_011519217.1:c.990T>A, XR_001746424.3:n.1110T>A, XR_001746424.2:n.1188T>A, XR_001746424.1:n.1197T>A, XM_011519218.3:c.870T>A, XM_011519218.2:c.870T>A, XM_011519218.1:c.870T>A, XM_011519222.3:c.990T>A, XM_011519222.2:c.990T>A, XM_011519222.1:c.990T>A, XM_011519215.3:c.990T>A, XM_011519215.2:c.990T>A, XM_011519215.1:c.990T>A, XM_005252317.3:c.876T>A, XM_005252317.2:c.876T>A, XM_005252317.1:c.876T>A, XM_011519213.3:c.990T>A, XM_011519213.2:c.990T>A, XM_011519213.1:c.990T>A, XM_011519216.3:c.990T>A, XM_011519216.2:c.990T>A, XM_011519216.1:c.990T>A, XR_929878.3:n.1110T>A, XR_929878.2:n.1188T>A, XR_929878.1:n.1197T>A, XM_017015338.2:c.810T>A, XM_017015338.1:c.810T>A, XM_011519219.2:c.864T>A, XM_011519219.1:c.864T>A, XM_011519220.2:c.750T>A, XM_011519220.1:c.750T>A, XM_024447720.2:c.876T>A, XM_024447720.1:c.876T>A, XM_017015340.2:c.366T>A, XM_017015340.1:c.366T>A, XM_011519223.2:c.366T>A, XM_011519223.1:c.366T>A, XR_007061378.1:n.1110T>A, XR_007061379.1:n.1110T>A, XR_007061380.1:n.1110T>A, XR_007061376.1:n.1110T>A, XR_007061381.1:n.996T>A, XM_047424102.1:c.870T>A, XR_007061377.1:n.1110T>A, XM_047424104.1:c.810T>A, XM_047424109.1:c.768T>A, XM_047424101.1:c.897T>A, XM_047424108.1:c.750T>A, XM_047424106.1:c.750T>A, XM_047424099.1:c.990T>A, XM_047424103.1:c.876T>A, XM_047424107.1:c.750T>A, NP_004284.1:p.His292Gln, NP_001229435.1:p.His218Gln, NP_001229436.1:p.His218Gln, NP_001229434.1:p.His292Gln, NP_001338500.1:p.His250Gln, NP_001338501.1:p.His292Gln, NP_001338502.1:p.His292Gln, XP_011517519.1:p.His330Gln, XP_011517520.1:p.His290Gln, XP_011517524.1:p.His330Gln, XP_011517517.1:p.His330Gln, XP_005252374.1:p.His292Gln, XP_011517515.1:p.His330Gln, XP_011517518.1:p.His330Gln, XP_016870827.1:p.His270Gln, XP_011517521.1:p.His288Gln, XP_011517522.1:p.His250Gln, XP_024303488.1:p.His292Gln, XP_016870829.1:p.His122Gln, XP_011517525.1:p.His122Gln, XP_047280058.1:p.His290Gln, XP_047280060.1:p.His270Gln, XP_047280065.1:p.His256Gln, XP_047280057.1:p.His299Gln, XP_047280064.1:p.His250Gln, XP_047280062.1:p.His250Gln, XP_047280055.1:p.His330Gln, XP_047280059.1:p.His292Gln, XP_047280063.1:p.His250Gln

                                  17.

                                  rs1442804970 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    9:72202661 (GRCh38)
                                    9:74817577 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:72202660:G:A
                                    Gene:
                                    GDA (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.72202661G>A, NC_000009.11:g.74817577G>A, NG_030562.1:g.93067G>A, NM_004293.5:c.303G>A, NM_004293.4:c.303G>A, NM_001242506.3:c.81G>A, NM_001242506.2:c.81G>A, NM_001242507.3:c.81G>A, NM_001242507.2:c.81G>A, NM_001242505.3:c.303G>A, NM_001242505.2:c.303G>A, NM_001351571.2:c.177G>A, NM_001351571.1:c.177G>A, NR_147240.2:n.423G>A, NR_147240.1:n.512G>A, NM_001351572.2:c.303G>A, NM_001351572.1:c.303G>A, NM_001351573.2:c.303G>A, NM_001351573.1:c.303G>A, XR_001746423.3:n.423G>A, XR_001746423.2:n.501G>A, XR_001746423.1:n.510G>A, XM_011519217.3:c.303G>A, XM_011519217.2:c.303G>A, XM_011519217.1:c.303G>A, XR_001746424.3:n.423G>A, XR_001746424.2:n.501G>A, XR_001746424.1:n.510G>A, XM_011519218.3:c.183G>A, XM_011519218.2:c.183G>A, XM_011519218.1:c.183G>A, XM_011519222.3:c.303G>A, XM_011519222.2:c.303G>A, XM_011519222.1:c.303G>A, XM_011519215.3:c.303G>A, XM_011519215.2:c.303G>A, XM_011519215.1:c.303G>A, XM_005252317.3:c.303G>A, XM_005252317.2:c.303G>A, XM_005252317.1:c.303G>A, XM_011519213.3:c.303G>A, XM_011519213.2:c.303G>A, XM_011519213.1:c.303G>A, XM_011519216.3:c.303G>A, XM_011519216.2:c.303G>A, XM_011519216.1:c.303G>A, XR_929878.3:n.423G>A, XR_929878.2:n.501G>A, XR_929878.1:n.510G>A, XM_017015338.2:c.123G>A, XM_017015338.1:c.123G>A, XM_011519219.2:c.177G>A, XM_011519219.1:c.177G>A, XM_011519220.2:c.177G>A, XM_011519220.1:c.177G>A, XM_024447720.2:c.303G>A, XM_024447720.1:c.303G>A, XR_007061378.1:n.423G>A, XR_007061379.1:n.423G>A, XR_007061380.1:n.423G>A, XR_007061376.1:n.423G>A, XR_007061381.1:n.423G>A, XM_047424102.1:c.183G>A, XR_007061377.1:n.423G>A, XM_047424104.1:c.123G>A, XM_047424109.1:c.81G>A, XM_047424101.1:c.210G>A, XM_047424108.1:c.177G>A, XM_047424106.1:c.177G>A, XM_047424099.1:c.303G>A, XM_047424103.1:c.303G>A, XM_047424107.1:c.177G>A

                                    18.

                                    rs1442490897 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      9:72250779 (GRCh38)
                                      9:74865695 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:72250778:C:A,NC_000009.12:72250778:C:T
                                      Gene:
                                      GDA (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,stop_gained,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000031/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.72250779C>A, NC_000009.12:g.72250779C>T, NC_000009.11:g.74865695C>A, NC_000009.11:g.74865695C>T, NG_030562.1:g.141185C>A, NG_030562.1:g.141185C>T, NM_004293.5:c.*2437C>A, NM_004293.5:c.*2437C>T, NM_004293.4:c.*2437C>A, NM_004293.4:c.*2437C>T, NM_001242506.3:c.*2437C>A, NM_001242506.3:c.*2437C>T, NM_001242506.2:c.*2437C>A, NM_001242506.2:c.*2437C>T, NM_001242507.3:c.*2437C>A, NM_001242507.3:c.*2437C>T, NM_001242507.2:c.*2437C>A, NM_001242507.2:c.*2437C>T, NM_001242505.3:c.1391C>A, NM_001242505.3:c.1391C>T, NM_001242505.2:c.1391C>A, NM_001242505.2:c.1391C>T, NM_001351571.2:c.*2437C>A, NM_001351571.2:c.*2437C>T, NM_001351571.1:c.*2437C>A, NM_001351571.1:c.*2437C>T, NR_147240.2:n.1579C>A, NR_147240.2:n.1579C>T, NR_147240.1:n.1668C>A, NR_147240.1:n.1668C>T, NM_001351572.2:c.1391C>A, NM_001351572.2:c.1391C>T, NM_001351572.1:c.1391C>A, NM_001351572.1:c.1391C>T, NM_001351573.2:c.1324C>A, NM_001351573.2:c.1324C>T, NM_001351573.1:c.1324C>A, NM_001351573.1:c.1324C>T, XR_001746423.3:n.1625C>A, XR_001746423.3:n.1625C>T, XR_001746423.2:n.1703C>A, XR_001746423.2:n.1703C>T, XR_001746423.1:n.1712C>A, XR_001746423.1:n.1712C>T, XM_011519217.3:c.*2437C>A, XM_011519217.3:c.*2437C>T, XM_011519217.2:c.*2437C>A, XM_011519217.2:c.*2437C>T, XM_011519217.1:c.*2437C>A, XM_011519217.1:c.*2437C>T, XR_001746424.3:n.4036C>A, XR_001746424.3:n.4036C>T, XR_001746424.2:n.4114C>A, XR_001746424.2:n.4114C>T, XR_001746424.1:n.4123C>A, XR_001746424.1:n.4123C>T, XM_011519218.3:c.1385C>A, XM_011519218.3:c.1385C>T, XM_011519218.2:c.1385C>A, XM_011519218.2:c.1385C>T, XM_011519218.1:c.1385C>A, XM_011519218.1:c.1385C>T, XM_011519222.3:c.1505C>A, XM_011519222.3:c.1505C>T, XM_011519222.2:c.1505C>A, XM_011519222.2:c.1505C>T, XM_011519222.1:c.1505C>A, XM_011519222.1:c.1505C>T, XM_011519215.3:c.1438C>A, XM_011519215.3:c.1438C>T, XM_011519215.2:c.1438C>A, XM_011519215.2:c.1438C>T, XM_011519215.1:c.1438C>A, XM_011519215.1:c.1438C>T, XM_005252317.3:c.1391C>A, XM_005252317.3:c.1391C>T, XM_005252317.2:c.1391C>A, XM_005252317.2:c.1391C>T, XM_005252317.1:c.1391C>A, XM_005252317.1:c.1391C>T, XM_011519213.3:c.1505C>A, XM_011519213.3:c.1505C>T, XM_011519213.2:c.1505C>A, XM_011519213.2:c.1505C>T, XM_011519213.1:c.1505C>A, XM_011519213.1:c.1505C>T, XM_011519216.3:c.1438C>A, XM_011519216.3:c.1438C>T, XM_011519216.2:c.1438C>A, XM_011519216.2:c.1438C>T, XM_011519216.1:c.1438C>A, XM_011519216.1:c.1438C>T, XR_929878.3:n.1693C>A, XR_929878.3:n.1693C>T, XR_929878.2:n.1771C>A, XR_929878.2:n.1771C>T, XR_929878.1:n.1780C>A, XR_929878.1:n.1780C>T, XM_017015338.2:c.1325C>A, XM_017015338.2:c.1325C>T, XM_017015338.1:c.1325C>A, XM_017015338.1:c.1325C>T, XM_011519219.2:c.1379C>A, XM_011519219.2:c.1379C>T, XM_011519219.1:c.1379C>A, XM_011519219.1:c.1379C>T, XM_011519220.2:c.1265C>A, XM_011519220.2:c.1265C>T, XM_011519220.1:c.1265C>A, XM_011519220.1:c.1265C>T, XM_024447720.2:c.1324C>A, XM_024447720.2:c.1324C>T, XM_024447720.1:c.1324C>A, XM_024447720.1:c.1324C>T, XM_017015340.2:c.881C>A, XM_017015340.2:c.881C>T, XM_017015340.1:c.881C>A, XM_017015340.1:c.881C>T, XM_011519223.2:c.881C>A, XM_011519223.2:c.881C>T, XM_011519223.1:c.881C>A, XM_011519223.1:c.881C>T, XR_007061378.1:n.1625C>A, XR_007061378.1:n.1625C>T, XR_007061379.1:n.1558C>A, XR_007061379.1:n.1558C>T, XR_007061380.1:n.4036C>A, XR_007061380.1:n.4036C>T, XR_007061376.1:n.1625C>A, XR_007061376.1:n.1625C>T, XR_007061381.1:n.1444C>A, XR_007061381.1:n.1444C>T, XM_047424102.1:c.1385C>A, XM_047424102.1:c.1385C>T, XR_007061377.1:n.1625C>A, XR_007061377.1:n.1625C>T, XM_047424104.1:c.1325C>A, XM_047424104.1:c.1325C>T, XM_047424109.1:c.1283C>A, XM_047424109.1:c.1283C>T, XM_047424101.1:c.1412C>A, XM_047424101.1:c.1412C>T, XM_047424108.1:c.1198C>A, XM_047424108.1:c.1198C>T, XM_047424106.1:c.1265C>A, XM_047424106.1:c.1265C>T, XM_047424099.1:c.1438C>A, XM_047424099.1:c.1438C>T, XM_047424103.1:c.1324C>A, XM_047424103.1:c.1324C>T, XM_047424107.1:c.1265C>A, XM_047424107.1:c.1265C>T, NP_001229434.1:p.Ser464Ter, NP_001229434.1:p.Ser464Leu, NP_001338501.1:p.Ser464Ter, NP_001338501.1:p.Ser464Leu, NP_001338502.1:p.His442Asn, NP_001338502.1:p.His442Tyr, XP_011517520.1:p.Ser462Ter, XP_011517520.1:p.Ser462Leu, XP_011517524.1:p.Ser502Ter, XP_011517524.1:p.Ser502Leu, XP_011517517.1:p.His480Asn, XP_011517517.1:p.His480Tyr, XP_005252374.1:p.Ser464Ter, XP_005252374.1:p.Ser464Leu, XP_011517515.1:p.Ser502Ter, XP_011517515.1:p.Ser502Leu, XP_011517518.1:p.His480Asn, XP_011517518.1:p.His480Tyr, XP_016870827.1:p.Ser442Ter, XP_016870827.1:p.Ser442Leu, XP_011517521.1:p.Ser460Ter, XP_011517521.1:p.Ser460Leu, XP_011517522.1:p.Ser422Ter, XP_011517522.1:p.Ser422Leu, XP_024303488.1:p.His442Asn, XP_024303488.1:p.His442Tyr, XP_016870829.1:p.Ser294Ter, XP_016870829.1:p.Ser294Leu, XP_011517525.1:p.Ser294Ter, XP_011517525.1:p.Ser294Leu, XP_047280058.1:p.Ser462Ter, XP_047280058.1:p.Ser462Leu, XP_047280060.1:p.Ser442Ter, XP_047280060.1:p.Ser442Leu, XP_047280065.1:p.Ser428Ter, XP_047280065.1:p.Ser428Leu, XP_047280057.1:p.Ser471Ter, XP_047280057.1:p.Ser471Leu, XP_047280064.1:p.His400Asn, XP_047280064.1:p.His400Tyr, XP_047280062.1:p.Ser422Ter, XP_047280062.1:p.Ser422Leu, XP_047280055.1:p.His480Asn, XP_047280055.1:p.His480Tyr, XP_047280059.1:p.His442Asn, XP_047280059.1:p.His442Tyr, XP_047280063.1:p.Ser422Ter, XP_047280063.1:p.Ser422Leu

                                      19.

                                      rs1438046416 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        9:72223188 (GRCh38)
                                        9:74838104 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:72223187:A:G
                                        Gene:
                                        GDA (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.72223188A>G, NC_000009.11:g.74838104A>G, NG_030562.1:g.113594A>G, NM_004293.5:c.675A>G, NM_004293.4:c.675A>G, NM_001242506.3:c.453A>G, NM_001242506.2:c.453A>G, NM_001242507.3:c.453A>G, NM_001242507.2:c.453A>G, NM_001242505.3:c.675A>G, NM_001242505.2:c.675A>G, NM_001351571.2:c.549A>G, NM_001351571.1:c.549A>G, NR_147240.2:n.795A>G, NR_147240.1:n.884A>G, NM_001351572.2:c.675A>G, NM_001351572.1:c.675A>G, NM_001351573.2:c.675A>G, NM_001351573.1:c.675A>G, XR_001746423.3:n.909A>G, XR_001746423.2:n.987A>G, XR_001746423.1:n.996A>G, XM_011519217.3:c.789A>G, XM_011519217.2:c.789A>G, XM_011519217.1:c.789A>G, XR_001746424.3:n.909A>G, XR_001746424.2:n.987A>G, XR_001746424.1:n.996A>G, XM_011519218.3:c.669A>G, XM_011519218.2:c.669A>G, XM_011519218.1:c.669A>G, XM_011519222.3:c.789A>G, XM_011519222.2:c.789A>G, XM_011519222.1:c.789A>G, XM_011519215.3:c.789A>G, XM_011519215.2:c.789A>G, XM_011519215.1:c.789A>G, XM_005252317.3:c.675A>G, XM_005252317.2:c.675A>G, XM_005252317.1:c.675A>G, XM_011519213.3:c.789A>G, XM_011519213.2:c.789A>G, XM_011519213.1:c.789A>G, XM_011519216.3:c.789A>G, XM_011519216.2:c.789A>G, XM_011519216.1:c.789A>G, XR_929878.3:n.909A>G, XR_929878.2:n.987A>G, XR_929878.1:n.996A>G, XM_017015338.2:c.609A>G, XM_017015338.1:c.609A>G, XM_011519219.2:c.663A>G, XM_011519219.1:c.663A>G, XM_011519220.2:c.549A>G, XM_011519220.1:c.549A>G, XM_024447720.2:c.675A>G, XM_024447720.1:c.675A>G, XM_017015340.2:c.165A>G, XM_017015340.1:c.165A>G, XM_011519223.2:c.165A>G, XM_011519223.1:c.165A>G, XR_007061378.1:n.909A>G, XR_007061379.1:n.909A>G, XR_007061380.1:n.909A>G, XR_007061376.1:n.909A>G, XR_007061381.1:n.795A>G, XM_047424102.1:c.669A>G, XR_007061377.1:n.909A>G, XM_047424104.1:c.609A>G, XM_047424109.1:c.567A>G, XM_047424101.1:c.696A>G, XM_047424108.1:c.549A>G, XM_047424106.1:c.549A>G, XM_047424099.1:c.789A>G, XM_047424103.1:c.675A>G, XM_047424107.1:c.549A>G

                                        20.

                                        rs1434539750 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          9:72241175 (GRCh38)
                                          9:74856091 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:72241174:T:C
                                          Gene:
                                          GDA (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.72241175T>C, NC_000009.11:g.74856091T>C, NG_030562.1:g.131581T>C, NM_004293.5:c.1012T>C, NM_004293.4:c.1012T>C, NM_001242506.3:c.790T>C, NM_001242506.2:c.790T>C, NM_001242507.3:c.790T>C, NM_001242507.2:c.790T>C, NM_001242505.3:c.1012T>C, NM_001242505.2:c.1012T>C, NM_001351571.2:c.886T>C, NM_001351571.1:c.886T>C, NR_147240.2:n.1132T>C, NR_147240.1:n.1221T>C, NM_001351572.2:c.1012T>C, NM_001351572.1:c.1012T>C, NM_001351573.2:c.1012T>C, NM_001351573.1:c.1012T>C, XR_001746423.3:n.1246T>C, XR_001746423.2:n.1324T>C, XR_001746423.1:n.1333T>C, XM_011519217.3:c.1126T>C, XM_011519217.2:c.1126T>C, XM_011519217.1:c.1126T>C, XR_001746424.3:n.1246T>C, XR_001746424.2:n.1324T>C, XR_001746424.1:n.1333T>C, XM_011519218.3:c.1006T>C, XM_011519218.2:c.1006T>C, XM_011519218.1:c.1006T>C, XM_011519222.3:c.1126T>C, XM_011519222.2:c.1126T>C, XM_011519222.1:c.1126T>C, XM_011519215.3:c.1126T>C, XM_011519215.2:c.1126T>C, XM_011519215.1:c.1126T>C, XM_005252317.3:c.1012T>C, XM_005252317.2:c.1012T>C, XM_005252317.1:c.1012T>C, XM_011519213.3:c.1126T>C, XM_011519213.2:c.1126T>C, XM_011519213.1:c.1126T>C, XM_011519216.3:c.1126T>C, XM_011519216.2:c.1126T>C, XM_011519216.1:c.1126T>C, XR_929878.3:n.1246T>C, XR_929878.2:n.1324T>C, XR_929878.1:n.1333T>C, XM_017015338.2:c.946T>C, XM_017015338.1:c.946T>C, XM_011519219.2:c.1000T>C, XM_011519219.1:c.1000T>C, XM_011519220.2:c.886T>C, XM_011519220.1:c.886T>C, XM_024447720.2:c.1012T>C, XM_024447720.1:c.1012T>C, XM_017015340.2:c.502T>C, XM_017015340.1:c.502T>C, XM_011519223.2:c.502T>C, XM_011519223.1:c.502T>C, XR_007061378.1:n.1246T>C, XR_007061379.1:n.1246T>C, XR_007061380.1:n.1246T>C, XR_007061376.1:n.1246T>C, XR_007061381.1:n.1132T>C, XM_047424102.1:c.1006T>C, XR_007061377.1:n.1246T>C, XM_047424104.1:c.946T>C, XM_047424109.1:c.904T>C, XM_047424101.1:c.1033T>C, XM_047424108.1:c.886T>C, XM_047424106.1:c.886T>C, XM_047424099.1:c.1126T>C, XM_047424103.1:c.1012T>C, XM_047424107.1:c.886T>C, NP_004284.1:p.Ser338Pro, NP_001229435.1:p.Ser264Pro, NP_001229436.1:p.Ser264Pro, NP_001229434.1:p.Ser338Pro, NP_001338500.1:p.Ser296Pro, NP_001338501.1:p.Ser338Pro, NP_001338502.1:p.Ser338Pro, XP_011517519.1:p.Ser376Pro, XP_011517520.1:p.Ser336Pro, XP_011517524.1:p.Ser376Pro, XP_011517517.1:p.Ser376Pro, XP_005252374.1:p.Ser338Pro, XP_011517515.1:p.Ser376Pro, XP_011517518.1:p.Ser376Pro, XP_016870827.1:p.Ser316Pro, XP_011517521.1:p.Ser334Pro, XP_011517522.1:p.Ser296Pro, XP_024303488.1:p.Ser338Pro, XP_016870829.1:p.Ser168Pro, XP_011517525.1:p.Ser168Pro, XP_047280058.1:p.Ser336Pro, XP_047280060.1:p.Ser316Pro, XP_047280065.1:p.Ser302Pro, XP_047280057.1:p.Ser345Pro, XP_047280064.1:p.Ser296Pro, XP_047280062.1:p.Ser296Pro, XP_047280055.1:p.Ser376Pro, XP_047280059.1:p.Ser338Pro, XP_047280063.1:p.Ser296Pro

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