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Items: 1 to 20 of 326

1.

rs1485323769 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:36356433 (GRCh38)
    9:36356430 (GRCh37)
    Canonical SPDI:
    NC_000009.12:36356432:T:C
    Gene:
    RNF38 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    C=0.000011/3 (TOPMED)
    HGVS:
    NC_000009.12:g.36356433T>C, NC_000009.11:g.36356430T>C, NM_022781.5:c.779A>G, NM_022781.4:c.779A>G, XM_005251366.4:c.530A>G, XM_005251366.3:c.530A>G, XM_005251366.2:c.530A>G, XM_005251366.1:c.530A>G, XM_005251367.4:c.530A>G, XM_005251367.3:c.530A>G, XM_005251367.2:c.530A>G, XM_005251367.1:c.530A>G, XM_006716721.4:c.530A>G, XM_006716721.3:c.530A>G, XM_006716721.2:c.530A>G, XM_006716721.1:c.530A>G, NM_194328.3:c.530A>G, NM_194328.2:c.530A>G, NM_194332.3:c.530A>G, NM_194332.2:c.530A>G, XM_011517712.3:c.530A>G, XM_011517712.2:c.530A>G, XM_011517712.1:c.530A>G, XM_011517713.3:c.530A>G, XM_011517713.2:c.530A>G, XM_011517713.1:c.530A>G, NM_194330.3:c.530A>G, NM_194330.2:c.530A>G, NM_194329.3:c.629A>G, NM_194329.2:c.629A>G, XM_017014294.2:c.566A>G, XM_017014294.1:c.566A>G, XM_017014297.2:c.440A>G, XM_017014297.1:c.440A>G, XM_017014296.2:c.440A>G, XM_017014296.1:c.440A>G, XM_047422794.1:c.1091A>G, XM_047422795.1:c.989A>G, XM_047422796.1:c.941A>G, XM_047422799.1:c.530A>G, XM_047422800.1:c.530A>G, XM_047422801.1:c.530A>G, XM_047422804.1:c.530A>G, XM_047422797.1:c.677A>G, XM_047422798.1:c.530A>G, XM_047422806.1:c.530A>G, XM_047422805.1:c.530A>G, XM_047422803.1:c.530A>G, XM_047422802.1:c.530A>G, NM_194331.1:c.476A>G, NP_073618.3:p.Tyr260Cys, XP_005251423.1:p.Tyr177Cys, XP_005251424.1:p.Tyr177Cys, XP_006716784.1:p.Tyr177Cys, NP_919309.1:p.Tyr177Cys, NP_919313.1:p.Tyr177Cys, XP_011516014.1:p.Tyr177Cys, XP_011516015.1:p.Tyr177Cys, NP_919311.1:p.Tyr177Cys, NP_919310.1:p.Tyr210Cys, XP_016869783.1:p.Tyr189Cys, XP_016869786.1:p.Tyr147Cys, XP_016869785.1:p.Tyr147Cys, XP_047278750.1:p.Tyr364Cys, XP_047278751.1:p.Tyr330Cys, XP_047278752.1:p.Tyr314Cys, XP_047278755.1:p.Tyr177Cys, XP_047278756.1:p.Tyr177Cys, XP_047278757.1:p.Tyr177Cys, XP_047278760.1:p.Tyr177Cys, XP_047278753.1:p.Tyr226Cys, XP_047278754.1:p.Tyr177Cys, XP_047278762.1:p.Tyr177Cys, XP_047278761.1:p.Tyr177Cys, XP_047278759.1:p.Tyr177Cys, XP_047278758.1:p.Tyr177Cys

    2.

    rs1481542461 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      9:36351192 (GRCh38)
      9:36351189 (GRCh37)
      Canonical SPDI:
      NC_000009.12:36351191:G:T
      Gene:
      RNF38 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.36351192G>T, NC_000009.11:g.36351189G>T, NM_022781.5:c.1186C>A, NM_022781.4:c.1186C>A, XM_005251366.4:c.937C>A, XM_005251366.3:c.937C>A, XM_005251366.2:c.937C>A, XM_005251366.1:c.937C>A, XM_005251367.4:c.937C>A, XM_005251367.3:c.937C>A, XM_005251367.2:c.937C>A, XM_005251367.1:c.937C>A, XM_006716721.4:c.937C>A, XM_006716721.3:c.937C>A, XM_006716721.2:c.937C>A, XM_006716721.1:c.937C>A, NM_194328.3:c.937C>A, NM_194328.2:c.937C>A, NM_194332.3:c.937C>A, NM_194332.2:c.937C>A, XM_011517712.3:c.937C>A, XM_011517712.2:c.937C>A, XM_011517712.1:c.937C>A, XM_011517713.3:c.937C>A, XM_011517713.2:c.937C>A, XM_011517713.1:c.937C>A, NM_194330.3:c.937C>A, NM_194330.2:c.937C>A, NM_194329.3:c.1036C>A, NM_194329.2:c.1036C>A, XM_017014294.2:c.973C>A, XM_017014294.1:c.973C>A, XM_017014297.2:c.847C>A, XM_017014297.1:c.847C>A, XM_017014296.2:c.847C>A, XM_017014296.1:c.847C>A, XM_047422794.1:c.1498C>A, XM_047422795.1:c.1396C>A, XM_047422796.1:c.1348C>A, XM_047422799.1:c.937C>A, XM_047422800.1:c.937C>A, XM_047422801.1:c.937C>A, XM_047422804.1:c.937C>A, XM_047422797.1:c.1084C>A, XM_047422798.1:c.937C>A, XM_047422806.1:c.937C>A, XM_047422805.1:c.937C>A, XM_047422803.1:c.937C>A, XM_047422802.1:c.937C>A, NM_194331.1:c.883C>A, NP_073618.3:p.Leu396Ile, XP_005251423.1:p.Leu313Ile, XP_005251424.1:p.Leu313Ile, XP_006716784.1:p.Leu313Ile, NP_919309.1:p.Leu313Ile, NP_919313.1:p.Leu313Ile, XP_011516014.1:p.Leu313Ile, XP_011516015.1:p.Leu313Ile, NP_919311.1:p.Leu313Ile, NP_919310.1:p.Leu346Ile, XP_016869783.1:p.Leu325Ile, XP_016869786.1:p.Leu283Ile, XP_016869785.1:p.Leu283Ile, XP_047278750.1:p.Leu500Ile, XP_047278751.1:p.Leu466Ile, XP_047278752.1:p.Leu450Ile, XP_047278755.1:p.Leu313Ile, XP_047278756.1:p.Leu313Ile, XP_047278757.1:p.Leu313Ile, XP_047278760.1:p.Leu313Ile, XP_047278753.1:p.Leu362Ile, XP_047278754.1:p.Leu313Ile, XP_047278762.1:p.Leu313Ile, XP_047278761.1:p.Leu313Ile, XP_047278759.1:p.Leu313Ile, XP_047278758.1:p.Leu313Ile

      3.

      rs1479541362 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TTTC [Show Flanks]
        Chromosome:
        9:36353268 (GRCh38)
        9:36353266 (GRCh37)
        Canonical SPDI:
        NC_000009.12:36353268::TTTC
        Gene:
        RNF38 (Varview)
        Functional Consequence:
        coding_sequence_variant,frameshift_variant
        HGVS:
        NC_000009.12:g.36353268_36353269insTTTC, NC_000009.11:g.36353265_36353266insTTTC, NM_022781.5:c.972_973insGAAA, NM_022781.4:c.972_973insGAAA, XM_005251366.4:c.723_724insGAAA, XM_005251366.3:c.723_724insGAAA, XM_005251366.2:c.723_724insGAAA, XM_005251366.1:c.723_724insGAAA, XM_005251367.4:c.723_724insGAAA, XM_005251367.3:c.723_724insGAAA, XM_005251367.2:c.723_724insGAAA, XM_005251367.1:c.723_724insGAAA, XM_006716721.4:c.723_724insGAAA, XM_006716721.3:c.723_724insGAAA, XM_006716721.2:c.723_724insGAAA, XM_006716721.1:c.723_724insGAAA, NM_194328.3:c.723_724insGAAA, NM_194328.2:c.723_724insGAAA, NM_194332.3:c.723_724insGAAA, NM_194332.2:c.723_724insGAAA, XM_011517712.3:c.723_724insGAAA, XM_011517712.2:c.723_724insGAAA, XM_011517712.1:c.723_724insGAAA, XM_011517713.3:c.723_724insGAAA, XM_011517713.2:c.723_724insGAAA, XM_011517713.1:c.723_724insGAAA, NM_194330.3:c.723_724insGAAA, NM_194330.2:c.723_724insGAAA, NM_194329.3:c.822_823insGAAA, NM_194329.2:c.822_823insGAAA, XM_017014294.2:c.759_760insGAAA, XM_017014294.1:c.759_760insGAAA, XM_017014297.2:c.633_634insGAAA, XM_017014297.1:c.633_634insGAAA, XM_017014296.2:c.633_634insGAAA, XM_017014296.1:c.633_634insGAAA, XM_047422794.1:c.1284_1285insGAAA, XM_047422795.1:c.1182_1183insGAAA, XM_047422796.1:c.1134_1135insGAAA, XM_047422799.1:c.723_724insGAAA, XM_047422800.1:c.723_724insGAAA, XM_047422801.1:c.723_724insGAAA, XM_047422804.1:c.723_724insGAAA, XM_047422797.1:c.870_871insGAAA, XM_047422798.1:c.723_724insGAAA, XM_047422806.1:c.723_724insGAAA, XM_047422805.1:c.723_724insGAAA, XM_047422803.1:c.723_724insGAAA, XM_047422802.1:c.723_724insGAAA, NM_194331.1:c.669_670insGAAA, NP_073618.3:p.Thr325fs, XP_005251423.1:p.Thr242fs, XP_005251424.1:p.Thr242fs, XP_006716784.1:p.Thr242fs, NP_919309.1:p.Thr242fs, NP_919313.1:p.Thr242fs, XP_011516014.1:p.Thr242fs, XP_011516015.1:p.Thr242fs, NP_919311.1:p.Thr242fs, NP_919310.1:p.Thr275fs, XP_016869783.1:p.Thr254fs, XP_016869786.1:p.Thr212fs, XP_016869785.1:p.Thr212fs, XP_047278750.1:p.Thr429fs, XP_047278751.1:p.Thr395fs, XP_047278752.1:p.Thr379fs, XP_047278755.1:p.Thr242fs, XP_047278756.1:p.Thr242fs, XP_047278757.1:p.Thr242fs, XP_047278760.1:p.Thr242fs, XP_047278753.1:p.Thr291fs, XP_047278754.1:p.Thr242fs, XP_047278762.1:p.Thr242fs, XP_047278761.1:p.Thr242fs, XP_047278759.1:p.Thr242fs, XP_047278758.1:p.Thr242fs

        4.

        rs1474259881 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          9:36352821 (GRCh38)
          9:36352818 (GRCh37)
          Canonical SPDI:
          NC_000009.12:36352820:G:C
          Gene:
          RNF38 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.36352821G>C, NC_000009.11:g.36352818G>C, NM_022781.5:c.1099C>G, NM_022781.4:c.1099C>G, XM_005251366.4:c.850C>G, XM_005251366.3:c.850C>G, XM_005251366.2:c.850C>G, XM_005251366.1:c.850C>G, XM_005251367.4:c.850C>G, XM_005251367.3:c.850C>G, XM_005251367.2:c.850C>G, XM_005251367.1:c.850C>G, XM_006716721.4:c.850C>G, XM_006716721.3:c.850C>G, XM_006716721.2:c.850C>G, XM_006716721.1:c.850C>G, NM_194328.3:c.850C>G, NM_194328.2:c.850C>G, NM_194332.3:c.850C>G, NM_194332.2:c.850C>G, XM_011517712.3:c.850C>G, XM_011517712.2:c.850C>G, XM_011517712.1:c.850C>G, XM_011517713.3:c.850C>G, XM_011517713.2:c.850C>G, XM_011517713.1:c.850C>G, NM_194330.3:c.850C>G, NM_194330.2:c.850C>G, NM_194329.3:c.949C>G, NM_194329.2:c.949C>G, XM_017014294.2:c.886C>G, XM_017014294.1:c.886C>G, XM_017014297.2:c.760C>G, XM_017014297.1:c.760C>G, XM_017014296.2:c.760C>G, XM_017014296.1:c.760C>G, XM_047422794.1:c.1411C>G, XM_047422795.1:c.1309C>G, XM_047422796.1:c.1261C>G, XM_047422799.1:c.850C>G, XM_047422800.1:c.850C>G, XM_047422801.1:c.850C>G, XM_047422804.1:c.850C>G, XM_047422797.1:c.997C>G, XM_047422798.1:c.850C>G, XM_047422806.1:c.850C>G, XM_047422805.1:c.850C>G, XM_047422803.1:c.850C>G, XM_047422802.1:c.850C>G, NM_194331.1:c.796C>G, NP_073618.3:p.Leu367Val, XP_005251423.1:p.Leu284Val, XP_005251424.1:p.Leu284Val, XP_006716784.1:p.Leu284Val, NP_919309.1:p.Leu284Val, NP_919313.1:p.Leu284Val, XP_011516014.1:p.Leu284Val, XP_011516015.1:p.Leu284Val, NP_919311.1:p.Leu284Val, NP_919310.1:p.Leu317Val, XP_016869783.1:p.Leu296Val, XP_016869786.1:p.Leu254Val, XP_016869785.1:p.Leu254Val, XP_047278750.1:p.Leu471Val, XP_047278751.1:p.Leu437Val, XP_047278752.1:p.Leu421Val, XP_047278755.1:p.Leu284Val, XP_047278756.1:p.Leu284Val, XP_047278757.1:p.Leu284Val, XP_047278760.1:p.Leu284Val, XP_047278753.1:p.Leu333Val, XP_047278754.1:p.Leu284Val, XP_047278762.1:p.Leu284Val, XP_047278761.1:p.Leu284Val, XP_047278759.1:p.Leu284Val, XP_047278758.1:p.Leu284Val

          5.

          rs1473274815 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            9:36356406 (GRCh38)
            9:36356403 (GRCh37)
            Canonical SPDI:
            NC_000009.12:36356405:C:G
            Gene:
            RNF38 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000007/1 (GnomAD)
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.36356406C>G, NC_000009.11:g.36356403C>G, NM_022781.5:c.806G>C, NM_022781.4:c.806G>C, XM_005251366.4:c.557G>C, XM_005251366.3:c.557G>C, XM_005251366.2:c.557G>C, XM_005251366.1:c.557G>C, XM_005251367.4:c.557G>C, XM_005251367.3:c.557G>C, XM_005251367.2:c.557G>C, XM_005251367.1:c.557G>C, XM_006716721.4:c.557G>C, XM_006716721.3:c.557G>C, XM_006716721.2:c.557G>C, XM_006716721.1:c.557G>C, NM_194328.3:c.557G>C, NM_194328.2:c.557G>C, NM_194332.3:c.557G>C, NM_194332.2:c.557G>C, XM_011517712.3:c.557G>C, XM_011517712.2:c.557G>C, XM_011517712.1:c.557G>C, XM_011517713.3:c.557G>C, XM_011517713.2:c.557G>C, XM_011517713.1:c.557G>C, NM_194330.3:c.557G>C, NM_194330.2:c.557G>C, NM_194329.3:c.656G>C, NM_194329.2:c.656G>C, XM_017014294.2:c.593G>C, XM_017014294.1:c.593G>C, XM_017014297.2:c.467G>C, XM_017014297.1:c.467G>C, XM_017014296.2:c.467G>C, XM_017014296.1:c.467G>C, XM_047422794.1:c.1118G>C, XM_047422795.1:c.1016G>C, XM_047422796.1:c.968G>C, XM_047422799.1:c.557G>C, XM_047422800.1:c.557G>C, XM_047422801.1:c.557G>C, XM_047422804.1:c.557G>C, XM_047422797.1:c.704G>C, XM_047422798.1:c.557G>C, XM_047422806.1:c.557G>C, XM_047422805.1:c.557G>C, XM_047422803.1:c.557G>C, XM_047422802.1:c.557G>C, NM_194331.1:c.503G>C, NP_073618.3:p.Ser269Thr, XP_005251423.1:p.Ser186Thr, XP_005251424.1:p.Ser186Thr, XP_006716784.1:p.Ser186Thr, NP_919309.1:p.Ser186Thr, NP_919313.1:p.Ser186Thr, XP_011516014.1:p.Ser186Thr, XP_011516015.1:p.Ser186Thr, NP_919311.1:p.Ser186Thr, NP_919310.1:p.Ser219Thr, XP_016869783.1:p.Ser198Thr, XP_016869786.1:p.Ser156Thr, XP_016869785.1:p.Ser156Thr, XP_047278750.1:p.Ser373Thr, XP_047278751.1:p.Ser339Thr, XP_047278752.1:p.Ser323Thr, XP_047278755.1:p.Ser186Thr, XP_047278756.1:p.Ser186Thr, XP_047278757.1:p.Ser186Thr, XP_047278760.1:p.Ser186Thr, XP_047278753.1:p.Ser235Thr, XP_047278754.1:p.Ser186Thr, XP_047278762.1:p.Ser186Thr, XP_047278761.1:p.Ser186Thr, XP_047278759.1:p.Ser186Thr, XP_047278758.1:p.Ser186Thr

            6.

            rs1472451410 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:36375949 (GRCh38)
              9:36375946 (GRCh37)
              Canonical SPDI:
              NC_000009.12:36375948:G:A
              Gene:
              RNF38 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.36375949G>A, NC_000009.11:g.36375946G>A, NM_022781.5:c.341C>T, NM_022781.4:c.341C>T, XM_005251366.4:c.92C>T, XM_005251366.3:c.92C>T, XM_005251366.2:c.92C>T, XM_005251366.1:c.92C>T, XM_005251367.4:c.92C>T, XM_005251367.3:c.92C>T, XM_005251367.2:c.92C>T, XM_005251367.1:c.92C>T, XM_006716721.4:c.92C>T, XM_006716721.3:c.92C>T, XM_006716721.2:c.92C>T, XM_006716721.1:c.92C>T, NM_194328.3:c.92C>T, NM_194328.2:c.92C>T, NM_194332.3:c.92C>T, NM_194332.2:c.92C>T, XM_011517712.3:c.92C>T, XM_011517712.2:c.92C>T, XM_011517712.1:c.92C>T, XM_011517713.3:c.92C>T, XM_011517713.2:c.92C>T, XM_011517713.1:c.92C>T, NM_194330.3:c.92C>T, NM_194330.2:c.92C>T, NM_194329.3:c.191C>T, NM_194329.2:c.191C>T, XM_047422794.1:c.653C>T, XM_047422795.1:c.551C>T, XM_047422796.1:c.503C>T, XM_047422799.1:c.92C>T, XM_047422800.1:c.92C>T, XM_047422801.1:c.92C>T, XM_047422804.1:c.92C>T, XM_047422797.1:c.239C>T, XM_047422798.1:c.92C>T, XM_047422806.1:c.92C>T, XM_047422805.1:c.92C>T, XM_047422803.1:c.92C>T, XM_047422802.1:c.92C>T, NM_194331.1:c.92C>T, NP_073618.3:p.Ala114Val, XP_005251423.1:p.Ala31Val, XP_005251424.1:p.Ala31Val, XP_006716784.1:p.Ala31Val, NP_919309.1:p.Ala31Val, NP_919313.1:p.Ala31Val, XP_011516014.1:p.Ala31Val, XP_011516015.1:p.Ala31Val, NP_919311.1:p.Ala31Val, NP_919310.1:p.Ala64Val, XP_047278750.1:p.Ala218Val, XP_047278751.1:p.Ala184Val, XP_047278752.1:p.Ala168Val, XP_047278755.1:p.Ala31Val, XP_047278756.1:p.Ala31Val, XP_047278757.1:p.Ala31Val, XP_047278760.1:p.Ala31Val, XP_047278753.1:p.Ala80Val, XP_047278754.1:p.Ala31Val, XP_047278762.1:p.Ala31Val, XP_047278761.1:p.Ala31Val, XP_047278759.1:p.Ala31Val, XP_047278758.1:p.Ala31Val

              7.

              rs1472292414 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                9:36353193 (GRCh38)
                9:36353190 (GRCh37)
                Canonical SPDI:
                NC_000009.12:36353192:G:A
                Gene:
                RNF38 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_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.36353193G>A, NC_000009.11:g.36353190G>A, NM_022781.5:c.1048C>T, NM_022781.4:c.1048C>T, XM_005251366.4:c.799C>T, XM_005251366.3:c.799C>T, XM_005251366.2:c.799C>T, XM_005251366.1:c.799C>T, XM_005251367.4:c.799C>T, XM_005251367.3:c.799C>T, XM_005251367.2:c.799C>T, XM_005251367.1:c.799C>T, XM_006716721.4:c.799C>T, XM_006716721.3:c.799C>T, XM_006716721.2:c.799C>T, XM_006716721.1:c.799C>T, NM_194328.3:c.799C>T, NM_194328.2:c.799C>T, NM_194332.3:c.799C>T, NM_194332.2:c.799C>T, XM_011517712.3:c.799C>T, XM_011517712.2:c.799C>T, XM_011517712.1:c.799C>T, XM_011517713.3:c.799C>T, XM_011517713.2:c.799C>T, XM_011517713.1:c.799C>T, NM_194330.3:c.799C>T, NM_194330.2:c.799C>T, NM_194329.3:c.898C>T, NM_194329.2:c.898C>T, XM_017014294.2:c.835C>T, XM_017014294.1:c.835C>T, XM_017014297.2:c.709C>T, XM_017014297.1:c.709C>T, XM_017014296.2:c.709C>T, XM_017014296.1:c.709C>T, XM_047422794.1:c.1360C>T, XM_047422795.1:c.1258C>T, XM_047422796.1:c.1210C>T, XM_047422799.1:c.799C>T, XM_047422800.1:c.799C>T, XM_047422801.1:c.799C>T, XM_047422804.1:c.799C>T, XM_047422797.1:c.946C>T, XM_047422798.1:c.799C>T, XM_047422806.1:c.799C>T, XM_047422805.1:c.799C>T, XM_047422803.1:c.799C>T, XM_047422802.1:c.799C>T, NM_194331.1:c.745C>T, NP_073618.3:p.His350Tyr, XP_005251423.1:p.His267Tyr, XP_005251424.1:p.His267Tyr, XP_006716784.1:p.His267Tyr, NP_919309.1:p.His267Tyr, NP_919313.1:p.His267Tyr, XP_011516014.1:p.His267Tyr, XP_011516015.1:p.His267Tyr, NP_919311.1:p.His267Tyr, NP_919310.1:p.His300Tyr, XP_016869783.1:p.His279Tyr, XP_016869786.1:p.His237Tyr, XP_016869785.1:p.His237Tyr, XP_047278750.1:p.His454Tyr, XP_047278751.1:p.His420Tyr, XP_047278752.1:p.His404Tyr, XP_047278755.1:p.His267Tyr, XP_047278756.1:p.His267Tyr, XP_047278757.1:p.His267Tyr, XP_047278760.1:p.His267Tyr, XP_047278753.1:p.His316Tyr, XP_047278754.1:p.His267Tyr, XP_047278762.1:p.His267Tyr, XP_047278761.1:p.His267Tyr, XP_047278759.1:p.His267Tyr, XP_047278758.1:p.His267Tyr

                8.

                rs1465948869 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  9:36356442 (GRCh38)
                  9:36356439 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:36356441:G:C,NC_000009.12:36356441:G:T
                  Gene:
                  RNF38 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000015/4 (TOPMED)
                  HGVS:
                  NC_000009.12:g.36356442G>C, NC_000009.12:g.36356442G>T, NC_000009.11:g.36356439G>C, NC_000009.11:g.36356439G>T, NM_022781.5:c.770C>G, NM_022781.5:c.770C>A, NM_022781.4:c.770C>G, NM_022781.4:c.770C>A, XM_005251366.4:c.521C>G, XM_005251366.4:c.521C>A, XM_005251366.3:c.521C>G, XM_005251366.3:c.521C>A, XM_005251366.2:c.521C>G, XM_005251366.2:c.521C>A, XM_005251366.1:c.521C>G, XM_005251366.1:c.521C>A, XM_005251367.4:c.521C>G, XM_005251367.4:c.521C>A, XM_005251367.3:c.521C>G, XM_005251367.3:c.521C>A, XM_005251367.2:c.521C>G, XM_005251367.2:c.521C>A, XM_005251367.1:c.521C>G, XM_005251367.1:c.521C>A, XM_006716721.4:c.521C>G, XM_006716721.4:c.521C>A, XM_006716721.3:c.521C>G, XM_006716721.3:c.521C>A, XM_006716721.2:c.521C>G, XM_006716721.2:c.521C>A, XM_006716721.1:c.521C>G, XM_006716721.1:c.521C>A, NM_194328.3:c.521C>G, NM_194328.3:c.521C>A, NM_194328.2:c.521C>G, NM_194328.2:c.521C>A, NM_194332.3:c.521C>G, NM_194332.3:c.521C>A, NM_194332.2:c.521C>G, NM_194332.2:c.521C>A, XM_011517712.3:c.521C>G, XM_011517712.3:c.521C>A, XM_011517712.2:c.521C>G, XM_011517712.2:c.521C>A, XM_011517712.1:c.521C>G, XM_011517712.1:c.521C>A, XM_011517713.3:c.521C>G, XM_011517713.3:c.521C>A, XM_011517713.2:c.521C>G, XM_011517713.2:c.521C>A, XM_011517713.1:c.521C>G, XM_011517713.1:c.521C>A, NM_194330.3:c.521C>G, NM_194330.3:c.521C>A, NM_194330.2:c.521C>G, NM_194330.2:c.521C>A, NM_194329.3:c.620C>G, NM_194329.3:c.620C>A, NM_194329.2:c.620C>G, NM_194329.2:c.620C>A, XM_017014294.2:c.557C>G, XM_017014294.2:c.557C>A, XM_017014294.1:c.557C>G, XM_017014294.1:c.557C>A, XM_017014297.2:c.431C>G, XM_017014297.2:c.431C>A, XM_017014297.1:c.431C>G, XM_017014297.1:c.431C>A, XM_017014296.2:c.431C>G, XM_017014296.2:c.431C>A, XM_017014296.1:c.431C>G, XM_017014296.1:c.431C>A, XM_047422794.1:c.1082C>G, XM_047422794.1:c.1082C>A, XM_047422795.1:c.980C>G, XM_047422795.1:c.980C>A, XM_047422796.1:c.932C>G, XM_047422796.1:c.932C>A, XM_047422799.1:c.521C>G, XM_047422799.1:c.521C>A, XM_047422800.1:c.521C>G, XM_047422800.1:c.521C>A, XM_047422801.1:c.521C>G, XM_047422801.1:c.521C>A, XM_047422804.1:c.521C>G, XM_047422804.1:c.521C>A, XM_047422797.1:c.668C>G, XM_047422797.1:c.668C>A, XM_047422798.1:c.521C>G, XM_047422798.1:c.521C>A, XM_047422806.1:c.521C>G, XM_047422806.1:c.521C>A, XM_047422805.1:c.521C>G, XM_047422805.1:c.521C>A, XM_047422803.1:c.521C>G, XM_047422803.1:c.521C>A, XM_047422802.1:c.521C>G, XM_047422802.1:c.521C>A, NM_194331.1:c.467C>G, NM_194331.1:c.467C>A, NP_073618.3:p.Pro257Arg, NP_073618.3:p.Pro257Gln, XP_005251423.1:p.Pro174Arg, XP_005251423.1:p.Pro174Gln, XP_005251424.1:p.Pro174Arg, XP_005251424.1:p.Pro174Gln, XP_006716784.1:p.Pro174Arg, XP_006716784.1:p.Pro174Gln, NP_919309.1:p.Pro174Arg, NP_919309.1:p.Pro174Gln, NP_919313.1:p.Pro174Arg, NP_919313.1:p.Pro174Gln, XP_011516014.1:p.Pro174Arg, XP_011516014.1:p.Pro174Gln, XP_011516015.1:p.Pro174Arg, XP_011516015.1:p.Pro174Gln, NP_919311.1:p.Pro174Arg, NP_919311.1:p.Pro174Gln, NP_919310.1:p.Pro207Arg, NP_919310.1:p.Pro207Gln, XP_016869783.1:p.Pro186Arg, XP_016869783.1:p.Pro186Gln, XP_016869786.1:p.Pro144Arg, XP_016869786.1:p.Pro144Gln, XP_016869785.1:p.Pro144Arg, XP_016869785.1:p.Pro144Gln, XP_047278750.1:p.Pro361Arg, XP_047278750.1:p.Pro361Gln, XP_047278751.1:p.Pro327Arg, XP_047278751.1:p.Pro327Gln, XP_047278752.1:p.Pro311Arg, XP_047278752.1:p.Pro311Gln, XP_047278755.1:p.Pro174Arg, XP_047278755.1:p.Pro174Gln, XP_047278756.1:p.Pro174Arg, XP_047278756.1:p.Pro174Gln, XP_047278757.1:p.Pro174Arg, XP_047278757.1:p.Pro174Gln, XP_047278760.1:p.Pro174Arg, XP_047278760.1:p.Pro174Gln, XP_047278753.1:p.Pro223Arg, XP_047278753.1:p.Pro223Gln, XP_047278754.1:p.Pro174Arg, XP_047278754.1:p.Pro174Gln, XP_047278762.1:p.Pro174Arg, XP_047278762.1:p.Pro174Gln, XP_047278761.1:p.Pro174Arg, XP_047278761.1:p.Pro174Gln, XP_047278759.1:p.Pro174Arg, XP_047278759.1:p.Pro174Gln, XP_047278758.1:p.Pro174Arg, XP_047278758.1:p.Pro174Gln

                  9.

                  rs1465901045 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    9:36353223 (GRCh38)
                    9:36353220 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:36353222:G:A,NC_000009.12:36353222:G:C
                    Gene:
                    RNF38 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000009.12:g.36353223G>A, NC_000009.12:g.36353223G>C, NC_000009.11:g.36353220G>A, NC_000009.11:g.36353220G>C, NM_022781.5:c.1018C>T, NM_022781.5:c.1018C>G, NM_022781.4:c.1018C>T, NM_022781.4:c.1018C>G, XM_005251366.4:c.769C>T, XM_005251366.4:c.769C>G, XM_005251366.3:c.769C>T, XM_005251366.3:c.769C>G, XM_005251366.2:c.769C>T, XM_005251366.2:c.769C>G, XM_005251366.1:c.769C>T, XM_005251366.1:c.769C>G, XM_005251367.4:c.769C>T, XM_005251367.4:c.769C>G, XM_005251367.3:c.769C>T, XM_005251367.3:c.769C>G, XM_005251367.2:c.769C>T, XM_005251367.2:c.769C>G, XM_005251367.1:c.769C>T, XM_005251367.1:c.769C>G, XM_006716721.4:c.769C>T, XM_006716721.4:c.769C>G, XM_006716721.3:c.769C>T, XM_006716721.3:c.769C>G, XM_006716721.2:c.769C>T, XM_006716721.2:c.769C>G, XM_006716721.1:c.769C>T, XM_006716721.1:c.769C>G, NM_194328.3:c.769C>T, NM_194328.3:c.769C>G, NM_194328.2:c.769C>T, NM_194328.2:c.769C>G, NM_194332.3:c.769C>T, NM_194332.3:c.769C>G, NM_194332.2:c.769C>T, NM_194332.2:c.769C>G, XM_011517712.3:c.769C>T, XM_011517712.3:c.769C>G, XM_011517712.2:c.769C>T, XM_011517712.2:c.769C>G, XM_011517712.1:c.769C>T, XM_011517712.1:c.769C>G, XM_011517713.3:c.769C>T, XM_011517713.3:c.769C>G, XM_011517713.2:c.769C>T, XM_011517713.2:c.769C>G, XM_011517713.1:c.769C>T, XM_011517713.1:c.769C>G, NM_194330.3:c.769C>T, NM_194330.3:c.769C>G, NM_194330.2:c.769C>T, NM_194330.2:c.769C>G, NM_194329.3:c.868C>T, NM_194329.3:c.868C>G, NM_194329.2:c.868C>T, NM_194329.2:c.868C>G, XM_017014294.2:c.805C>T, XM_017014294.2:c.805C>G, XM_017014294.1:c.805C>T, XM_017014294.1:c.805C>G, XM_017014297.2:c.679C>T, XM_017014297.2:c.679C>G, XM_017014297.1:c.679C>T, XM_017014297.1:c.679C>G, XM_017014296.2:c.679C>T, XM_017014296.2:c.679C>G, XM_017014296.1:c.679C>T, XM_017014296.1:c.679C>G, XM_047422794.1:c.1330C>T, XM_047422794.1:c.1330C>G, XM_047422795.1:c.1228C>T, XM_047422795.1:c.1228C>G, XM_047422796.1:c.1180C>T, XM_047422796.1:c.1180C>G, XM_047422799.1:c.769C>T, XM_047422799.1:c.769C>G, XM_047422800.1:c.769C>T, XM_047422800.1:c.769C>G, XM_047422801.1:c.769C>T, XM_047422801.1:c.769C>G, XM_047422804.1:c.769C>T, XM_047422804.1:c.769C>G, XM_047422797.1:c.916C>T, XM_047422797.1:c.916C>G, XM_047422798.1:c.769C>T, XM_047422798.1:c.769C>G, XM_047422806.1:c.769C>T, XM_047422806.1:c.769C>G, XM_047422805.1:c.769C>T, XM_047422805.1:c.769C>G, XM_047422803.1:c.769C>T, XM_047422803.1:c.769C>G, XM_047422802.1:c.769C>T, XM_047422802.1:c.769C>G, NM_194331.1:c.715C>T, NM_194331.1:c.715C>G, NP_073618.3:p.Pro340Ser, NP_073618.3:p.Pro340Ala, XP_005251423.1:p.Pro257Ser, XP_005251423.1:p.Pro257Ala, XP_005251424.1:p.Pro257Ser, XP_005251424.1:p.Pro257Ala, XP_006716784.1:p.Pro257Ser, XP_006716784.1:p.Pro257Ala, NP_919309.1:p.Pro257Ser, NP_919309.1:p.Pro257Ala, NP_919313.1:p.Pro257Ser, NP_919313.1:p.Pro257Ala, XP_011516014.1:p.Pro257Ser, XP_011516014.1:p.Pro257Ala, XP_011516015.1:p.Pro257Ser, XP_011516015.1:p.Pro257Ala, NP_919311.1:p.Pro257Ser, NP_919311.1:p.Pro257Ala, NP_919310.1:p.Pro290Ser, NP_919310.1:p.Pro290Ala, XP_016869783.1:p.Pro269Ser, XP_016869783.1:p.Pro269Ala, XP_016869786.1:p.Pro227Ser, XP_016869786.1:p.Pro227Ala, XP_016869785.1:p.Pro227Ser, XP_016869785.1:p.Pro227Ala, XP_047278750.1:p.Pro444Ser, XP_047278750.1:p.Pro444Ala, XP_047278751.1:p.Pro410Ser, XP_047278751.1:p.Pro410Ala, XP_047278752.1:p.Pro394Ser, XP_047278752.1:p.Pro394Ala, XP_047278755.1:p.Pro257Ser, XP_047278755.1:p.Pro257Ala, XP_047278756.1:p.Pro257Ser, XP_047278756.1:p.Pro257Ala, XP_047278757.1:p.Pro257Ser, XP_047278757.1:p.Pro257Ala, XP_047278760.1:p.Pro257Ser, XP_047278760.1:p.Pro257Ala, XP_047278753.1:p.Pro306Ser, XP_047278753.1:p.Pro306Ala, XP_047278754.1:p.Pro257Ser, XP_047278754.1:p.Pro257Ala, XP_047278762.1:p.Pro257Ser, XP_047278762.1:p.Pro257Ala, XP_047278761.1:p.Pro257Ser, XP_047278761.1:p.Pro257Ala, XP_047278759.1:p.Pro257Ser, XP_047278759.1:p.Pro257Ala, XP_047278758.1:p.Pro257Ser, XP_047278758.1:p.Pro257Ala

                    10.

                    rs1464254366 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:36356304 (GRCh38)
                      9:36356301 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:36356303:G:A
                      Gene:
                      RNF38 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000009.12:g.36356304G>A, NC_000009.11:g.36356301G>A, NM_022781.5:c.908C>T, NM_022781.4:c.908C>T, XM_005251366.4:c.659C>T, XM_005251366.3:c.659C>T, XM_005251366.2:c.659C>T, XM_005251366.1:c.659C>T, XM_005251367.4:c.659C>T, XM_005251367.3:c.659C>T, XM_005251367.2:c.659C>T, XM_005251367.1:c.659C>T, XM_006716721.4:c.659C>T, XM_006716721.3:c.659C>T, XM_006716721.2:c.659C>T, XM_006716721.1:c.659C>T, NM_194328.3:c.659C>T, NM_194328.2:c.659C>T, NM_194332.3:c.659C>T, NM_194332.2:c.659C>T, XM_011517712.3:c.659C>T, XM_011517712.2:c.659C>T, XM_011517712.1:c.659C>T, XM_011517713.3:c.659C>T, XM_011517713.2:c.659C>T, XM_011517713.1:c.659C>T, NM_194330.3:c.659C>T, NM_194330.2:c.659C>T, NM_194329.3:c.758C>T, NM_194329.2:c.758C>T, XM_017014294.2:c.695C>T, XM_017014294.1:c.695C>T, XM_017014297.2:c.569C>T, XM_017014297.1:c.569C>T, XM_017014296.2:c.569C>T, XM_017014296.1:c.569C>T, XM_047422794.1:c.1220C>T, XM_047422795.1:c.1118C>T, XM_047422796.1:c.1070C>T, XM_047422799.1:c.659C>T, XM_047422800.1:c.659C>T, XM_047422801.1:c.659C>T, XM_047422804.1:c.659C>T, XM_047422797.1:c.806C>T, XM_047422798.1:c.659C>T, XM_047422806.1:c.659C>T, XM_047422805.1:c.659C>T, XM_047422803.1:c.659C>T, XM_047422802.1:c.659C>T, NM_194331.1:c.605C>T, NP_073618.3:p.Ser303Leu, XP_005251423.1:p.Ser220Leu, XP_005251424.1:p.Ser220Leu, XP_006716784.1:p.Ser220Leu, NP_919309.1:p.Ser220Leu, NP_919313.1:p.Ser220Leu, XP_011516014.1:p.Ser220Leu, XP_011516015.1:p.Ser220Leu, NP_919311.1:p.Ser220Leu, NP_919310.1:p.Ser253Leu, XP_016869783.1:p.Ser232Leu, XP_016869786.1:p.Ser190Leu, XP_016869785.1:p.Ser190Leu, XP_047278750.1:p.Ser407Leu, XP_047278751.1:p.Ser373Leu, XP_047278752.1:p.Ser357Leu, XP_047278755.1:p.Ser220Leu, XP_047278756.1:p.Ser220Leu, XP_047278757.1:p.Ser220Leu, XP_047278760.1:p.Ser220Leu, XP_047278753.1:p.Ser269Leu, XP_047278754.1:p.Ser220Leu, XP_047278762.1:p.Ser220Leu, XP_047278761.1:p.Ser220Leu, XP_047278759.1:p.Ser220Leu, XP_047278758.1:p.Ser220Leu

                      11.

                      rs1461273870 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:36344850 (GRCh38)
                        9:36344847 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:36344849:T:C
                        Gene:
                        RNF38 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000009.12:g.36344850T>C, NC_000009.11:g.36344847T>C, NM_022781.5:c.1367A>G, NM_022781.4:c.1367A>G, XM_005251366.4:c.1118A>G, XM_005251366.3:c.1118A>G, XM_005251366.2:c.1118A>G, XM_005251366.1:c.1118A>G, XM_005251367.4:c.1118A>G, XM_005251367.3:c.1118A>G, XM_005251367.2:c.1118A>G, XM_005251367.1:c.1118A>G, XM_006716721.4:c.1118A>G, XM_006716721.3:c.1118A>G, XM_006716721.2:c.1118A>G, XM_006716721.1:c.1118A>G, NM_194328.3:c.1118A>G, NM_194328.2:c.1118A>G, NM_194332.3:c.1118A>G, NM_194332.2:c.1118A>G, XM_011517712.3:c.1118A>G, XM_011517712.2:c.1118A>G, XM_011517712.1:c.1118A>G, XM_011517713.3:c.1118A>G, XM_011517713.2:c.1118A>G, XM_011517713.1:c.1118A>G, NM_194330.3:c.1118A>G, NM_194330.2:c.1118A>G, NM_194329.3:c.1217A>G, NM_194329.2:c.1217A>G, XM_017014294.2:c.1154A>G, XM_017014294.1:c.1154A>G, XM_017014297.2:c.1028A>G, XM_017014297.1:c.1028A>G, XM_017014296.2:c.1028A>G, XM_017014296.1:c.1028A>G, XM_047422794.1:c.1679A>G, XM_047422795.1:c.1577A>G, XM_047422796.1:c.1529A>G, XM_047422799.1:c.1118A>G, XM_047422800.1:c.1118A>G, XM_047422801.1:c.1118A>G, XM_047422804.1:c.1118A>G, XM_047422797.1:c.1265A>G, XM_047422798.1:c.1118A>G, XM_047422806.1:c.1118A>G, XM_047422805.1:c.1118A>G, XM_047422803.1:c.1118A>G, XM_047422802.1:c.1118A>G, NM_194331.1:c.1064A>G, NP_073618.3:p.His456Arg, XP_005251423.1:p.His373Arg, XP_005251424.1:p.His373Arg, XP_006716784.1:p.His373Arg, NP_919309.1:p.His373Arg, NP_919313.1:p.His373Arg, XP_011516014.1:p.His373Arg, XP_011516015.1:p.His373Arg, NP_919311.1:p.His373Arg, NP_919310.1:p.His406Arg, XP_016869783.1:p.His385Arg, XP_016869786.1:p.His343Arg, XP_016869785.1:p.His343Arg, XP_047278750.1:p.His560Arg, XP_047278751.1:p.His526Arg, XP_047278752.1:p.His510Arg, XP_047278755.1:p.His373Arg, XP_047278756.1:p.His373Arg, XP_047278757.1:p.His373Arg, XP_047278760.1:p.His373Arg, XP_047278753.1:p.His422Arg, XP_047278754.1:p.His373Arg, XP_047278762.1:p.His373Arg, XP_047278761.1:p.His373Arg, XP_047278759.1:p.His373Arg, XP_047278758.1:p.His373Arg

                        12.

                        rs1461131753 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:36369775 (GRCh38)
                          9:36369772 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:36369774:G:A
                          Gene:
                          RNF38 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.36369775G>A, NC_000009.11:g.36369772G>A, NM_022781.5:c.514C>T, NM_022781.4:c.514C>T, XM_005251366.4:c.265C>T, XM_005251366.3:c.265C>T, XM_005251366.2:c.265C>T, XM_005251366.1:c.265C>T, XM_005251367.4:c.265C>T, XM_005251367.3:c.265C>T, XM_005251367.2:c.265C>T, XM_005251367.1:c.265C>T, XM_006716721.4:c.265C>T, XM_006716721.3:c.265C>T, XM_006716721.2:c.265C>T, XM_006716721.1:c.265C>T, NM_194328.3:c.265C>T, NM_194328.2:c.265C>T, NM_194332.3:c.265C>T, NM_194332.2:c.265C>T, XM_011517712.3:c.265C>T, XM_011517712.2:c.265C>T, XM_011517712.1:c.265C>T, XM_011517713.3:c.265C>T, XM_011517713.2:c.265C>T, XM_011517713.1:c.265C>T, NM_194330.3:c.265C>T, NM_194330.2:c.265C>T, NM_194329.3:c.364C>T, NM_194329.2:c.364C>T, XM_017014294.2:c.301C>T, XM_017014294.1:c.301C>T, XM_017014297.2:c.175C>T, XM_017014297.1:c.175C>T, XM_017014296.2:c.175C>T, XM_017014296.1:c.175C>T, XM_047422794.1:c.826C>T, XM_047422795.1:c.724C>T, XM_047422796.1:c.676C>T, XM_047422799.1:c.265C>T, XM_047422800.1:c.265C>T, XM_047422801.1:c.265C>T, XM_047422804.1:c.265C>T, XM_047422797.1:c.412C>T, XM_047422798.1:c.265C>T, XM_047422806.1:c.265C>T, XM_047422805.1:c.265C>T, XM_047422803.1:c.265C>T, XM_047422802.1:c.265C>T, NM_194331.1:c.211C>T, NP_073618.3:p.His172Tyr, XP_005251423.1:p.His89Tyr, XP_005251424.1:p.His89Tyr, XP_006716784.1:p.His89Tyr, NP_919309.1:p.His89Tyr, NP_919313.1:p.His89Tyr, XP_011516014.1:p.His89Tyr, XP_011516015.1:p.His89Tyr, NP_919311.1:p.His89Tyr, NP_919310.1:p.His122Tyr, XP_016869783.1:p.His101Tyr, XP_016869786.1:p.His59Tyr, XP_016869785.1:p.His59Tyr, XP_047278750.1:p.His276Tyr, XP_047278751.1:p.His242Tyr, XP_047278752.1:p.His226Tyr, XP_047278755.1:p.His89Tyr, XP_047278756.1:p.His89Tyr, XP_047278757.1:p.His89Tyr, XP_047278760.1:p.His89Tyr, XP_047278753.1:p.His138Tyr, XP_047278754.1:p.His89Tyr, XP_047278762.1:p.His89Tyr, XP_047278761.1:p.His89Tyr, XP_047278759.1:p.His89Tyr, XP_047278758.1:p.His89Tyr

                          13.

                          rs1453798096 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            9:36356349 (GRCh38)
                            9:36356346 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:36356348:G:T
                            Gene:
                            RNF38 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.36356349G>T, NC_000009.11:g.36356346G>T, NM_022781.5:c.863C>A, NM_022781.4:c.863C>A, XM_005251366.4:c.614C>A, XM_005251366.3:c.614C>A, XM_005251366.2:c.614C>A, XM_005251366.1:c.614C>A, XM_005251367.4:c.614C>A, XM_005251367.3:c.614C>A, XM_005251367.2:c.614C>A, XM_005251367.1:c.614C>A, XM_006716721.4:c.614C>A, XM_006716721.3:c.614C>A, XM_006716721.2:c.614C>A, XM_006716721.1:c.614C>A, NM_194328.3:c.614C>A, NM_194328.2:c.614C>A, NM_194332.3:c.614C>A, NM_194332.2:c.614C>A, XM_011517712.3:c.614C>A, XM_011517712.2:c.614C>A, XM_011517712.1:c.614C>A, XM_011517713.3:c.614C>A, XM_011517713.2:c.614C>A, XM_011517713.1:c.614C>A, NM_194330.3:c.614C>A, NM_194330.2:c.614C>A, NM_194329.3:c.713C>A, NM_194329.2:c.713C>A, XM_017014294.2:c.650C>A, XM_017014294.1:c.650C>A, XM_017014297.2:c.524C>A, XM_017014297.1:c.524C>A, XM_017014296.2:c.524C>A, XM_017014296.1:c.524C>A, XM_047422794.1:c.1175C>A, XM_047422795.1:c.1073C>A, XM_047422796.1:c.1025C>A, XM_047422799.1:c.614C>A, XM_047422800.1:c.614C>A, XM_047422801.1:c.614C>A, XM_047422804.1:c.614C>A, XM_047422797.1:c.761C>A, XM_047422798.1:c.614C>A, XM_047422806.1:c.614C>A, XM_047422805.1:c.614C>A, XM_047422803.1:c.614C>A, XM_047422802.1:c.614C>A, NM_194331.1:c.560C>A, NP_073618.3:p.Pro288Gln, XP_005251423.1:p.Pro205Gln, XP_005251424.1:p.Pro205Gln, XP_006716784.1:p.Pro205Gln, NP_919309.1:p.Pro205Gln, NP_919313.1:p.Pro205Gln, XP_011516014.1:p.Pro205Gln, XP_011516015.1:p.Pro205Gln, NP_919311.1:p.Pro205Gln, NP_919310.1:p.Pro238Gln, XP_016869783.1:p.Pro217Gln, XP_016869786.1:p.Pro175Gln, XP_016869785.1:p.Pro175Gln, XP_047278750.1:p.Pro392Gln, XP_047278751.1:p.Pro358Gln, XP_047278752.1:p.Pro342Gln, XP_047278755.1:p.Pro205Gln, XP_047278756.1:p.Pro205Gln, XP_047278757.1:p.Pro205Gln, XP_047278760.1:p.Pro205Gln, XP_047278753.1:p.Pro254Gln, XP_047278754.1:p.Pro205Gln, XP_047278762.1:p.Pro205Gln, XP_047278761.1:p.Pro205Gln, XP_047278759.1:p.Pro205Gln, XP_047278758.1:p.Pro205Gln

                            14.

                            rs1451832103 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              9:36356382 (GRCh38)
                              9:36356379 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:36356381:G:A
                              Gene:
                              RNF38 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000009.12:g.36356382G>A, NC_000009.11:g.36356379G>A, NM_022781.5:c.830C>T, NM_022781.4:c.830C>T, XM_005251366.4:c.581C>T, XM_005251366.3:c.581C>T, XM_005251366.2:c.581C>T, XM_005251366.1:c.581C>T, XM_005251367.4:c.581C>T, XM_005251367.3:c.581C>T, XM_005251367.2:c.581C>T, XM_005251367.1:c.581C>T, XM_006716721.4:c.581C>T, XM_006716721.3:c.581C>T, XM_006716721.2:c.581C>T, XM_006716721.1:c.581C>T, NM_194328.3:c.581C>T, NM_194328.2:c.581C>T, NM_194332.3:c.581C>T, NM_194332.2:c.581C>T, XM_011517712.3:c.581C>T, XM_011517712.2:c.581C>T, XM_011517712.1:c.581C>T, XM_011517713.3:c.581C>T, XM_011517713.2:c.581C>T, XM_011517713.1:c.581C>T, NM_194330.3:c.581C>T, NM_194330.2:c.581C>T, NM_194329.3:c.680C>T, NM_194329.2:c.680C>T, XM_017014294.2:c.617C>T, XM_017014294.1:c.617C>T, XM_017014297.2:c.491C>T, XM_017014297.1:c.491C>T, XM_017014296.2:c.491C>T, XM_017014296.1:c.491C>T, XM_047422794.1:c.1142C>T, XM_047422795.1:c.1040C>T, XM_047422796.1:c.992C>T, XM_047422799.1:c.581C>T, XM_047422800.1:c.581C>T, XM_047422801.1:c.581C>T, XM_047422804.1:c.581C>T, XM_047422797.1:c.728C>T, XM_047422798.1:c.581C>T, XM_047422806.1:c.581C>T, XM_047422805.1:c.581C>T, XM_047422803.1:c.581C>T, XM_047422802.1:c.581C>T, NM_194331.1:c.527C>T, NP_073618.3:p.Pro277Leu, XP_005251423.1:p.Pro194Leu, XP_005251424.1:p.Pro194Leu, XP_006716784.1:p.Pro194Leu, NP_919309.1:p.Pro194Leu, NP_919313.1:p.Pro194Leu, XP_011516014.1:p.Pro194Leu, XP_011516015.1:p.Pro194Leu, NP_919311.1:p.Pro194Leu, NP_919310.1:p.Pro227Leu, XP_016869783.1:p.Pro206Leu, XP_016869786.1:p.Pro164Leu, XP_016869785.1:p.Pro164Leu, XP_047278750.1:p.Pro381Leu, XP_047278751.1:p.Pro347Leu, XP_047278752.1:p.Pro331Leu, XP_047278755.1:p.Pro194Leu, XP_047278756.1:p.Pro194Leu, XP_047278757.1:p.Pro194Leu, XP_047278760.1:p.Pro194Leu, XP_047278753.1:p.Pro243Leu, XP_047278754.1:p.Pro194Leu, XP_047278762.1:p.Pro194Leu, XP_047278761.1:p.Pro194Leu, XP_047278759.1:p.Pro194Leu, XP_047278758.1:p.Pro194Leu

                              15.

                              rs1450615344 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                9:36357906 (GRCh38)
                                9:36357903 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:36357905:T:G
                                Gene:
                                RNF38 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.36357906T>G, NC_000009.11:g.36357903T>G, NM_022781.5:c.607A>C, NM_022781.4:c.607A>C, XM_005251366.4:c.358A>C, XM_005251366.3:c.358A>C, XM_005251366.2:c.358A>C, XM_005251366.1:c.358A>C, XM_005251367.4:c.358A>C, XM_005251367.3:c.358A>C, XM_005251367.2:c.358A>C, XM_005251367.1:c.358A>C, XM_006716721.4:c.358A>C, XM_006716721.3:c.358A>C, XM_006716721.2:c.358A>C, XM_006716721.1:c.358A>C, NM_194328.3:c.358A>C, NM_194328.2:c.358A>C, NM_194332.3:c.358A>C, NM_194332.2:c.358A>C, XM_011517712.3:c.358A>C, XM_011517712.2:c.358A>C, XM_011517712.1:c.358A>C, XM_011517713.3:c.358A>C, XM_011517713.2:c.358A>C, XM_011517713.1:c.358A>C, NM_194330.3:c.358A>C, NM_194330.2:c.358A>C, NM_194329.3:c.457A>C, NM_194329.2:c.457A>C, XM_017014294.2:c.394A>C, XM_017014294.1:c.394A>C, XM_017014297.2:c.268A>C, XM_017014297.1:c.268A>C, XM_017014296.2:c.268A>C, XM_017014296.1:c.268A>C, XM_047422794.1:c.919A>C, XM_047422795.1:c.817A>C, XM_047422796.1:c.769A>C, XM_047422799.1:c.358A>C, XM_047422800.1:c.358A>C, XM_047422801.1:c.358A>C, XM_047422804.1:c.358A>C, XM_047422797.1:c.505A>C, XM_047422798.1:c.358A>C, XM_047422806.1:c.358A>C, XM_047422805.1:c.358A>C, XM_047422803.1:c.358A>C, XM_047422802.1:c.358A>C, NM_194331.1:c.304A>C, NP_073618.3:p.Thr203Pro, XP_005251423.1:p.Thr120Pro, XP_005251424.1:p.Thr120Pro, XP_006716784.1:p.Thr120Pro, NP_919309.1:p.Thr120Pro, NP_919313.1:p.Thr120Pro, XP_011516014.1:p.Thr120Pro, XP_011516015.1:p.Thr120Pro, NP_919311.1:p.Thr120Pro, NP_919310.1:p.Thr153Pro, XP_016869783.1:p.Thr132Pro, XP_016869786.1:p.Thr90Pro, XP_016869785.1:p.Thr90Pro, XP_047278750.1:p.Thr307Pro, XP_047278751.1:p.Thr273Pro, XP_047278752.1:p.Thr257Pro, XP_047278755.1:p.Thr120Pro, XP_047278756.1:p.Thr120Pro, XP_047278757.1:p.Thr120Pro, XP_047278760.1:p.Thr120Pro, XP_047278753.1:p.Thr169Pro, XP_047278754.1:p.Thr120Pro, XP_047278762.1:p.Thr120Pro, XP_047278761.1:p.Thr120Pro, XP_047278759.1:p.Thr120Pro, XP_047278758.1:p.Thr120Pro

                                16.

                                rs1450560911 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  9:36352812 (GRCh38)
                                  9:36352809 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:36352811:G:A
                                  Gene:
                                  RNF38 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.36352812G>A, NC_000009.11:g.36352809G>A, NM_022781.5:c.1108C>T, NM_022781.4:c.1108C>T, XM_005251366.4:c.859C>T, XM_005251366.3:c.859C>T, XM_005251366.2:c.859C>T, XM_005251366.1:c.859C>T, XM_005251367.4:c.859C>T, XM_005251367.3:c.859C>T, XM_005251367.2:c.859C>T, XM_005251367.1:c.859C>T, XM_006716721.4:c.859C>T, XM_006716721.3:c.859C>T, XM_006716721.2:c.859C>T, XM_006716721.1:c.859C>T, NM_194328.3:c.859C>T, NM_194328.2:c.859C>T, NM_194332.3:c.859C>T, NM_194332.2:c.859C>T, XM_011517712.3:c.859C>T, XM_011517712.2:c.859C>T, XM_011517712.1:c.859C>T, XM_011517713.3:c.859C>T, XM_011517713.2:c.859C>T, XM_011517713.1:c.859C>T, NM_194330.3:c.859C>T, NM_194330.2:c.859C>T, NM_194329.3:c.958C>T, NM_194329.2:c.958C>T, XM_017014294.2:c.895C>T, XM_017014294.1:c.895C>T, XM_017014297.2:c.769C>T, XM_017014297.1:c.769C>T, XM_017014296.2:c.769C>T, XM_017014296.1:c.769C>T, XM_047422794.1:c.1420C>T, XM_047422795.1:c.1318C>T, XM_047422796.1:c.1270C>T, XM_047422799.1:c.859C>T, XM_047422800.1:c.859C>T, XM_047422801.1:c.859C>T, XM_047422804.1:c.859C>T, XM_047422797.1:c.1006C>T, XM_047422798.1:c.859C>T, XM_047422806.1:c.859C>T, XM_047422805.1:c.859C>T, XM_047422803.1:c.859C>T, XM_047422802.1:c.859C>T, NM_194331.1:c.805C>T, NP_073618.3:p.Arg370Cys, XP_005251423.1:p.Arg287Cys, XP_005251424.1:p.Arg287Cys, XP_006716784.1:p.Arg287Cys, NP_919309.1:p.Arg287Cys, NP_919313.1:p.Arg287Cys, XP_011516014.1:p.Arg287Cys, XP_011516015.1:p.Arg287Cys, NP_919311.1:p.Arg287Cys, NP_919310.1:p.Arg320Cys, XP_016869783.1:p.Arg299Cys, XP_016869786.1:p.Arg257Cys, XP_016869785.1:p.Arg257Cys, XP_047278750.1:p.Arg474Cys, XP_047278751.1:p.Arg440Cys, XP_047278752.1:p.Arg424Cys, XP_047278755.1:p.Arg287Cys, XP_047278756.1:p.Arg287Cys, XP_047278757.1:p.Arg287Cys, XP_047278760.1:p.Arg287Cys, XP_047278753.1:p.Arg336Cys, XP_047278754.1:p.Arg287Cys, XP_047278762.1:p.Arg287Cys, XP_047278761.1:p.Arg287Cys, XP_047278759.1:p.Arg287Cys, XP_047278758.1:p.Arg287Cys

                                  17.

                                  rs1450156710 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    9:36369903 (GRCh38)
                                    9:36369900 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:36369902:C:G
                                    Gene:
                                    RNF38 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.36369903C>G, NC_000009.11:g.36369900C>G, NM_022781.5:c.386G>C, NM_022781.4:c.386G>C, XM_005251366.4:c.137G>C, XM_005251366.3:c.137G>C, XM_005251366.2:c.137G>C, XM_005251366.1:c.137G>C, XM_005251367.4:c.137G>C, XM_005251367.3:c.137G>C, XM_005251367.2:c.137G>C, XM_005251367.1:c.137G>C, XM_006716721.4:c.137G>C, XM_006716721.3:c.137G>C, XM_006716721.2:c.137G>C, XM_006716721.1:c.137G>C, NM_194328.3:c.137G>C, NM_194328.2:c.137G>C, NM_194332.3:c.137G>C, NM_194332.2:c.137G>C, XM_011517712.3:c.137G>C, XM_011517712.2:c.137G>C, XM_011517712.1:c.137G>C, XM_011517713.3:c.137G>C, XM_011517713.2:c.137G>C, XM_011517713.1:c.137G>C, NM_194330.3:c.137G>C, NM_194330.2:c.137G>C, NM_194329.3:c.236G>C, NM_194329.2:c.236G>C, XM_017014294.2:c.173G>C, XM_017014294.1:c.173G>C, XM_017014297.2:c.47G>C, XM_017014297.1:c.47G>C, XM_017014296.2:c.47G>C, XM_017014296.1:c.47G>C, XM_047422794.1:c.698G>C, XM_047422795.1:c.596G>C, XM_047422796.1:c.548G>C, XM_047422799.1:c.137G>C, XM_047422800.1:c.137G>C, XM_047422801.1:c.137G>C, XM_047422804.1:c.137G>C, XM_047422797.1:c.284G>C, XM_047422798.1:c.137G>C, XM_047422806.1:c.137G>C, XM_047422805.1:c.137G>C, XM_047422803.1:c.137G>C, XM_047422802.1:c.137G>C, NM_194331.1:c.137G>C, NP_073618.3:p.Arg129Thr, XP_005251423.1:p.Arg46Thr, XP_005251424.1:p.Arg46Thr, XP_006716784.1:p.Arg46Thr, NP_919309.1:p.Arg46Thr, NP_919313.1:p.Arg46Thr, XP_011516014.1:p.Arg46Thr, XP_011516015.1:p.Arg46Thr, NP_919311.1:p.Arg46Thr, NP_919310.1:p.Arg79Thr, XP_016869783.1:p.Arg58Thr, XP_016869786.1:p.Arg16Thr, XP_016869785.1:p.Arg16Thr, XP_047278750.1:p.Arg233Thr, XP_047278751.1:p.Arg199Thr, XP_047278752.1:p.Arg183Thr, XP_047278755.1:p.Arg46Thr, XP_047278756.1:p.Arg46Thr, XP_047278757.1:p.Arg46Thr, XP_047278760.1:p.Arg46Thr, XP_047278753.1:p.Arg95Thr, XP_047278754.1:p.Arg46Thr, XP_047278762.1:p.Arg46Thr, XP_047278761.1:p.Arg46Thr, XP_047278759.1:p.Arg46Thr, XP_047278758.1:p.Arg46Thr

                                    18.

                                    rs1449802280 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      9:36352774 (GRCh38)
                                      9:36352771 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:36352773:G:C
                                      Gene:
                                      RNF38 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000019/5 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.36352774G>C, NC_000009.11:g.36352771G>C, NM_022781.5:c.1146C>G, NM_022781.4:c.1146C>G, XM_005251366.4:c.897C>G, XM_005251366.3:c.897C>G, XM_005251366.2:c.897C>G, XM_005251366.1:c.897C>G, XM_005251367.4:c.897C>G, XM_005251367.3:c.897C>G, XM_005251367.2:c.897C>G, XM_005251367.1:c.897C>G, XM_006716721.4:c.897C>G, XM_006716721.3:c.897C>G, XM_006716721.2:c.897C>G, XM_006716721.1:c.897C>G, NM_194328.3:c.897C>G, NM_194328.2:c.897C>G, NM_194332.3:c.897C>G, NM_194332.2:c.897C>G, XM_011517712.3:c.897C>G, XM_011517712.2:c.897C>G, XM_011517712.1:c.897C>G, XM_011517713.3:c.897C>G, XM_011517713.2:c.897C>G, XM_011517713.1:c.897C>G, NM_194330.3:c.897C>G, NM_194330.2:c.897C>G, NM_194329.3:c.996C>G, NM_194329.2:c.996C>G, XM_017014294.2:c.933C>G, XM_017014294.1:c.933C>G, XM_017014297.2:c.807C>G, XM_017014297.1:c.807C>G, XM_017014296.2:c.807C>G, XM_017014296.1:c.807C>G, XM_047422794.1:c.1458C>G, XM_047422795.1:c.1356C>G, XM_047422796.1:c.1308C>G, XM_047422799.1:c.897C>G, XM_047422800.1:c.897C>G, XM_047422801.1:c.897C>G, XM_047422804.1:c.897C>G, XM_047422797.1:c.1044C>G, XM_047422798.1:c.897C>G, XM_047422806.1:c.897C>G, XM_047422805.1:c.897C>G, XM_047422803.1:c.897C>G, XM_047422802.1:c.897C>G, NM_194331.1:c.843C>G

                                      19.

                                      rs1447778058 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        9:36369795 (GRCh38)
                                        9:36369792 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:36369794:T:C
                                        Gene:
                                        RNF38 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_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.36369795T>C, NC_000009.11:g.36369792T>C, NM_022781.5:c.494A>G, NM_022781.4:c.494A>G, XM_005251366.4:c.245A>G, XM_005251366.3:c.245A>G, XM_005251366.2:c.245A>G, XM_005251366.1:c.245A>G, XM_005251367.4:c.245A>G, XM_005251367.3:c.245A>G, XM_005251367.2:c.245A>G, XM_005251367.1:c.245A>G, XM_006716721.4:c.245A>G, XM_006716721.3:c.245A>G, XM_006716721.2:c.245A>G, XM_006716721.1:c.245A>G, NM_194328.3:c.245A>G, NM_194328.2:c.245A>G, NM_194332.3:c.245A>G, NM_194332.2:c.245A>G, XM_011517712.3:c.245A>G, XM_011517712.2:c.245A>G, XM_011517712.1:c.245A>G, XM_011517713.3:c.245A>G, XM_011517713.2:c.245A>G, XM_011517713.1:c.245A>G, NM_194330.3:c.245A>G, NM_194330.2:c.245A>G, NM_194329.3:c.344A>G, NM_194329.2:c.344A>G, XM_017014294.2:c.281A>G, XM_017014294.1:c.281A>G, XM_017014297.2:c.155A>G, XM_017014297.1:c.155A>G, XM_017014296.2:c.155A>G, XM_017014296.1:c.155A>G, XM_047422794.1:c.806A>G, XM_047422795.1:c.704A>G, XM_047422796.1:c.656A>G, XM_047422799.1:c.245A>G, XM_047422800.1:c.245A>G, XM_047422801.1:c.245A>G, XM_047422804.1:c.245A>G, XM_047422797.1:c.392A>G, XM_047422798.1:c.245A>G, XM_047422806.1:c.245A>G, XM_047422805.1:c.245A>G, XM_047422803.1:c.245A>G, XM_047422802.1:c.245A>G, NM_194331.1:c.191A>G, NP_073618.3:p.Asn165Ser, XP_005251423.1:p.Asn82Ser, XP_005251424.1:p.Asn82Ser, XP_006716784.1:p.Asn82Ser, NP_919309.1:p.Asn82Ser, NP_919313.1:p.Asn82Ser, XP_011516014.1:p.Asn82Ser, XP_011516015.1:p.Asn82Ser, NP_919311.1:p.Asn82Ser, NP_919310.1:p.Asn115Ser, XP_016869783.1:p.Asn94Ser, XP_016869786.1:p.Asn52Ser, XP_016869785.1:p.Asn52Ser, XP_047278750.1:p.Asn269Ser, XP_047278751.1:p.Asn235Ser, XP_047278752.1:p.Asn219Ser, XP_047278755.1:p.Asn82Ser, XP_047278756.1:p.Asn82Ser, XP_047278757.1:p.Asn82Ser, XP_047278760.1:p.Asn82Ser, XP_047278753.1:p.Asn131Ser, XP_047278754.1:p.Asn82Ser, XP_047278762.1:p.Asn82Ser, XP_047278761.1:p.Asn82Ser, XP_047278759.1:p.Asn82Ser, XP_047278758.1:p.Asn82Ser

                                        20.

                                        rs1447366236 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          9:36369768 (GRCh38)
                                          9:36369765 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:36369767:G:C
                                          Gene:
                                          RNF38 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_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.36369768G>C, NC_000009.11:g.36369765G>C, NM_022781.5:c.521C>G, NM_022781.4:c.521C>G, XM_005251366.4:c.272C>G, XM_005251366.3:c.272C>G, XM_005251366.2:c.272C>G, XM_005251366.1:c.272C>G, XM_005251367.4:c.272C>G, XM_005251367.3:c.272C>G, XM_005251367.2:c.272C>G, XM_005251367.1:c.272C>G, XM_006716721.4:c.272C>G, XM_006716721.3:c.272C>G, XM_006716721.2:c.272C>G, XM_006716721.1:c.272C>G, NM_194328.3:c.272C>G, NM_194328.2:c.272C>G, NM_194332.3:c.272C>G, NM_194332.2:c.272C>G, XM_011517712.3:c.272C>G, XM_011517712.2:c.272C>G, XM_011517712.1:c.272C>G, XM_011517713.3:c.272C>G, XM_011517713.2:c.272C>G, XM_011517713.1:c.272C>G, NM_194330.3:c.272C>G, NM_194330.2:c.272C>G, NM_194329.3:c.371C>G, NM_194329.2:c.371C>G, XM_017014294.2:c.308C>G, XM_017014294.1:c.308C>G, XM_017014297.2:c.182C>G, XM_017014297.1:c.182C>G, XM_017014296.2:c.182C>G, XM_017014296.1:c.182C>G, XM_047422794.1:c.833C>G, XM_047422795.1:c.731C>G, XM_047422796.1:c.683C>G, XM_047422799.1:c.272C>G, XM_047422800.1:c.272C>G, XM_047422801.1:c.272C>G, XM_047422804.1:c.272C>G, XM_047422797.1:c.419C>G, XM_047422798.1:c.272C>G, XM_047422806.1:c.272C>G, XM_047422805.1:c.272C>G, XM_047422803.1:c.272C>G, XM_047422802.1:c.272C>G, NM_194331.1:c.218C>G, NP_073618.3:p.Ala174Gly, XP_005251423.1:p.Ala91Gly, XP_005251424.1:p.Ala91Gly, XP_006716784.1:p.Ala91Gly, NP_919309.1:p.Ala91Gly, NP_919313.1:p.Ala91Gly, XP_011516014.1:p.Ala91Gly, XP_011516015.1:p.Ala91Gly, NP_919311.1:p.Ala91Gly, NP_919310.1:p.Ala124Gly, XP_016869783.1:p.Ala103Gly, XP_016869786.1:p.Ala61Gly, XP_016869785.1:p.Ala61Gly, XP_047278750.1:p.Ala278Gly, XP_047278751.1:p.Ala244Gly, XP_047278752.1:p.Ala228Gly, XP_047278755.1:p.Ala91Gly, XP_047278756.1:p.Ala91Gly, XP_047278757.1:p.Ala91Gly, XP_047278760.1:p.Ala91Gly, XP_047278753.1:p.Ala140Gly, XP_047278754.1:p.Ala91Gly, XP_047278762.1:p.Ala91Gly, XP_047278761.1:p.Ala91Gly, XP_047278759.1:p.Ala91Gly, XP_047278758.1:p.Ala91Gly

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