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Items: 1 to 20 of 352

1.

rs1484687372 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:23311037 (GRCh38)
    1:23637530 (GRCh37)
    Canonical SPDI:
    NC_000001.11:23311036:G:A
    Gene:
    HNRNPR (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000001.11:g.23311037G>A, NC_000001.10:g.23637530G>A, NW_014040926.1:g.81016G>A, XM_005245711.6:c.1319C>T, XM_005245711.5:c.1319C>T, XM_005245711.4:c.1319C>T, XM_005245711.3:c.1319C>T, XM_005245711.2:c.1319C>T, XM_005245711.1:c.1319C>T, NM_005826.5:c.1319C>T, NM_005826.4:c.1319C>T, NM_005826.3:c.1319C>T, XM_011540472.4:c.1226C>T, XM_011540472.3:c.1151C>T, XM_011540472.2:c.1151C>T, XM_011540472.1:c.1151C>T, XM_017000010.3:c.1142C>T, XM_017000010.2:c.1142C>T, XM_017000010.1:c.1142C>T, XM_017000009.3:c.1142C>T, XM_017000009.2:c.1142C>T, XM_017000009.1:c.1142C>T, XM_011540471.4:c.1328C>T, XM_011540471.3:c.1328C>T, XM_011540471.2:c.1328C>T, XM_011540471.1:c.1328C>T, XM_011540474.4:c.1214C>T, XM_011540474.3:c.1214C>T, XM_011540474.2:c.1214C>T, XM_011540474.1:c.1214C>T, XM_011540476.4:c.911C>T, XM_011540476.3:c.911C>T, XM_011540476.2:c.911C>T, XM_011540476.1:c.911C>T, XM_011540477.4:c.848C>T, XM_011540477.3:c.848C>T, XM_011540477.2:c.848C>T, XM_011540477.1:c.848C>T, NM_001102398.3:c.1328C>T, NM_001102398.2:c.1328C>T, NM_001102398.1:c.1328C>T, NM_001102399.3:c.1025C>T, NM_001102399.2:c.1025C>T, NM_001102399.1:c.1025C>T, NM_001102397.3:c.1016C>T, NM_001102397.2:c.1016C>T, NM_001102397.1:c.1016C>T, NM_001297620.2:c.1205C>T, NM_001297620.1:c.1205C>T, NM_001297622.2:c.902C>T, NM_001297622.1:c.902C>T, NM_001297621.2:c.839C>T, NM_001297621.1:c.839C>T, XM_047424699.1:c.1403C>T, XM_047424712.1:c.1400C>T, XM_047424719.1:c.1394C>T, XM_047424758.1:c.1391C>T, XM_047424843.1:c.1289C>T, XM_047424890.1:c.1280C>T, XM_047424931.1:c.1277C>T, XM_047424994.1:c.1217C>T, XP_005245768.1:p.Pro440Leu, NP_005817.1:p.Pro440Leu, XP_011538774.2:p.Pro409Leu, XP_016855499.1:p.Pro381Leu, XP_016855498.1:p.Pro381Leu, XP_011538773.1:p.Pro443Leu, XP_011538776.1:p.Pro405Leu, XP_011538778.1:p.Pro304Leu, XP_011538779.1:p.Pro283Leu, NP_001095868.1:p.Pro443Leu, NP_001095869.1:p.Pro342Leu, NP_001095867.1:p.Pro339Leu, NP_001284549.1:p.Pro402Leu, NP_001284551.1:p.Pro301Leu, NP_001284550.1:p.Pro280Leu, XP_047280655.1:p.Pro468Leu, XP_047280668.1:p.Pro467Leu, XP_047280675.1:p.Pro465Leu, XP_047280714.1:p.Pro464Leu, XP_047280799.1:p.Pro430Leu, XP_047280846.1:p.Pro427Leu, XP_047280887.1:p.Pro426Leu, XP_047280950.1:p.Pro406Leu

    2.

    rs1482117835 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:23337782 (GRCh38)
      1:23664275 (GRCh37)
      Canonical SPDI:
      NC_000001.11:23337781:G:A
      Gene:
      HNRNPR (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)
      A=0.000012/3 (GnomAD_exomes)
      A=0.000019/5 (TOPMED)
      HGVS:
      NC_000001.11:g.23337782G>A, NC_000001.10:g.23664275G>A, NW_014040926.1:g.107761G>A, XM_005245711.6:c.356C>T, XM_005245711.5:c.356C>T, XM_005245711.4:c.356C>T, XM_005245711.3:c.356C>T, XM_005245711.2:c.356C>T, XM_005245711.1:c.356C>T, NM_005826.5:c.356C>T, NM_005826.4:c.356C>T, NM_005826.3:c.356C>T, XM_011540472.4:c.431C>T, XM_011540472.3:c.356C>T, XM_011540472.2:c.356C>T, XM_011540472.1:c.356C>T, XM_011540471.4:c.356C>T, XM_011540471.3:c.356C>T, XM_011540471.2:c.356C>T, XM_011540471.1:c.356C>T, XM_011540474.4:c.356C>T, XM_011540474.3:c.356C>T, XM_011540474.2:c.356C>T, XM_011540474.1:c.356C>T, XM_011540476.4:c.53C>T, XM_011540476.3:c.53C>T, XM_011540476.2:c.53C>T, XM_011540476.1:c.53C>T, XM_011540477.4:c.53C>T, XM_011540477.3:c.53C>T, XM_011540477.2:c.53C>T, XM_011540477.1:c.53C>T, NM_001102399.3:c.53C>T, NM_001102399.2:c.53C>T, NM_001102399.1:c.53C>T, NM_001102397.3:c.53C>T, NM_001102397.2:c.53C>T, NM_001102397.1:c.53C>T, XM_017000009.3:c.356C>T, XM_017000009.2:c.356C>T, XM_017000009.1:c.356C>T, NM_001102398.3:c.356C>T, NM_001102398.2:c.356C>T, NM_001102398.1:c.356C>T, XM_017000010.3:c.356C>T, XM_017000010.2:c.356C>T, XM_017000010.1:c.356C>T, NM_001297620.2:c.356C>T, NM_001297620.1:c.356C>T, XM_047424712.1:c.428C>T, XM_047424758.1:c.428C>T, XM_047424843.1:c.431C>T, XM_047424994.1:c.431C>T, NM_001297622.1:c.53C>T, NM_001297622.2:c.53C>T, XM_047424931.1:c.428C>T, XM_047424699.1:c.431C>T, NM_001297621.2:c.53C>T, NM_001297621.1:c.53C>T, XM_047424719.1:c.431C>T, XM_047424890.1:c.431C>T, XP_005245768.1:p.Thr119Ile, NP_005817.1:p.Thr119Ile, XP_011538774.2:p.Thr144Ile, XP_011538773.1:p.Thr119Ile, XP_011538776.1:p.Thr119Ile, XP_011538778.1:p.Thr18Ile, XP_011538779.1:p.Thr18Ile, NP_001095869.1:p.Thr18Ile, NP_001095867.1:p.Thr18Ile, XP_016855498.1:p.Thr119Ile, NP_001095868.1:p.Thr119Ile, XP_016855499.1:p.Thr119Ile, NP_001284549.1:p.Thr119Ile, XP_047280668.1:p.Thr143Ile, XP_047280714.1:p.Thr143Ile, XP_047280799.1:p.Thr144Ile, XP_047280950.1:p.Thr144Ile, NP_001284551.1:p.Thr18Ile, XP_047280887.1:p.Thr143Ile, XP_047280655.1:p.Thr144Ile, NP_001284550.1:p.Thr18Ile, XP_047280675.1:p.Thr144Ile, XP_047280846.1:p.Thr144Ile

      3.

      rs1481008059 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:23310684 (GRCh38)
        1:23637177 (GRCh37)
        Canonical SPDI:
        NC_000001.11:23310683:A:G
        Gene:
        HNRNPR (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.23310684A>G, NC_000001.10:g.23637177A>G, NW_014040926.1:g.80663A>G, XM_005245711.6:c.1672T>C, XM_005245711.5:c.1672T>C, XM_005245711.4:c.1672T>C, XM_005245711.3:c.1672T>C, XM_005245711.2:c.1672T>C, XM_005245711.1:c.1672T>C, NM_005826.5:c.1672T>C, NM_005826.4:c.1672T>C, NM_005826.3:c.1672T>C, XM_011540472.4:c.1579T>C, XM_011540472.3:c.1504T>C, XM_011540472.2:c.1504T>C, XM_011540472.1:c.1504T>C, XM_011540471.4:c.1681T>C, XM_011540471.3:c.1681T>C, XM_011540471.2:c.1681T>C, XM_011540471.1:c.1681T>C, XM_011540474.4:c.1567T>C, XM_011540474.3:c.1567T>C, XM_011540474.2:c.1567T>C, XM_011540474.1:c.1567T>C, XM_011540476.4:c.1264T>C, XM_011540476.3:c.1264T>C, XM_011540476.2:c.1264T>C, XM_011540476.1:c.1264T>C, XM_011540477.4:c.1201T>C, XM_011540477.3:c.1201T>C, XM_011540477.2:c.1201T>C, XM_011540477.1:c.1201T>C, NM_001102399.3:c.1378T>C, NM_001102399.2:c.1378T>C, NM_001102399.1:c.1378T>C, NM_001102397.3:c.1369T>C, NM_001102397.2:c.1369T>C, NM_001102397.1:c.1369T>C, XM_017000009.3:c.1495T>C, XM_017000009.2:c.1495T>C, XM_017000009.1:c.1495T>C, NM_001102398.3:c.1681T>C, NM_001102398.2:c.1681T>C, NM_001102398.1:c.1681T>C, XM_017000010.3:c.1495T>C, XM_017000010.2:c.1495T>C, XM_017000010.1:c.1495T>C, NM_001297620.2:c.1558T>C, NM_001297620.1:c.1558T>C, XM_047424712.1:c.1753T>C, XM_047424758.1:c.1744T>C, XM_047424843.1:c.1642T>C, XM_047424994.1:c.1570T>C, NM_001297622.1:c.1255T>C, NM_001297622.2:c.1255T>C, XM_047424931.1:c.1630T>C, XM_047424699.1:c.1756T>C, NM_001297621.2:c.1192T>C, NM_001297621.1:c.1192T>C, XM_047424719.1:c.1747T>C, XM_047424890.1:c.1633T>C, XP_005245768.1:p.Ser558Pro, NP_005817.1:p.Ser558Pro, XP_011538774.2:p.Ser527Pro, XP_011538773.1:p.Ser561Pro, XP_011538776.1:p.Ser523Pro, XP_011538778.1:p.Ser422Pro, XP_011538779.1:p.Ser401Pro, NP_001095869.1:p.Ser460Pro, NP_001095867.1:p.Ser457Pro, XP_016855498.1:p.Ser499Pro, NP_001095868.1:p.Ser561Pro, XP_016855499.1:p.Ser499Pro, NP_001284549.1:p.Ser520Pro, XP_047280668.1:p.Ser585Pro, XP_047280714.1:p.Ser582Pro, XP_047280799.1:p.Ser548Pro, XP_047280950.1:p.Ser524Pro, NP_001284551.1:p.Ser419Pro, XP_047280887.1:p.Ser544Pro, XP_047280655.1:p.Ser586Pro, NP_001284550.1:p.Ser398Pro, XP_047280675.1:p.Ser583Pro, XP_047280846.1:p.Ser545Pro

        4.

        rs1479837317 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:23310886 (GRCh38)
          1:23637379 (GRCh37)
          Canonical SPDI:
          NC_000001.11:23310885:G:A
          Gene:
          HNRNPR (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.23310886G>A, NC_000001.10:g.23637379G>A, NW_014040926.1:g.80865G>A, XM_005245711.6:c.1470C>T, XM_005245711.5:c.1470C>T, XM_005245711.4:c.1470C>T, XM_005245711.3:c.1470C>T, XM_005245711.2:c.1470C>T, XM_005245711.1:c.1470C>T, NM_005826.5:c.1470C>T, NM_005826.4:c.1470C>T, NM_005826.3:c.1470C>T, XM_011540472.4:c.1377C>T, XM_011540472.3:c.1302C>T, XM_011540472.2:c.1302C>T, XM_011540472.1:c.1302C>T, XM_011540471.4:c.1479C>T, XM_011540471.3:c.1479C>T, XM_011540471.2:c.1479C>T, XM_011540471.1:c.1479C>T, XM_011540474.4:c.1365C>T, XM_011540474.3:c.1365C>T, XM_011540474.2:c.1365C>T, XM_011540474.1:c.1365C>T, XM_011540476.4:c.1062C>T, XM_011540476.3:c.1062C>T, XM_011540476.2:c.1062C>T, XM_011540476.1:c.1062C>T, XM_011540477.4:c.999C>T, XM_011540477.3:c.999C>T, XM_011540477.2:c.999C>T, XM_011540477.1:c.999C>T, NM_001102399.3:c.1176C>T, NM_001102399.2:c.1176C>T, NM_001102399.1:c.1176C>T, NM_001102397.3:c.1167C>T, NM_001102397.2:c.1167C>T, NM_001102397.1:c.1167C>T, XM_017000009.3:c.1293C>T, XM_017000009.2:c.1293C>T, XM_017000009.1:c.1293C>T, NM_001102398.3:c.1479C>T, NM_001102398.2:c.1479C>T, NM_001102398.1:c.1479C>T, XM_017000010.3:c.1293C>T, XM_017000010.2:c.1293C>T, XM_017000010.1:c.1293C>T, NM_001297620.2:c.1356C>T, NM_001297620.1:c.1356C>T, XM_047424712.1:c.1551C>T, XM_047424758.1:c.1542C>T, XM_047424843.1:c.1440C>T, XM_047424994.1:c.1368C>T, NM_001297622.1:c.1053C>T, NM_001297622.2:c.1053C>T, XM_047424931.1:c.1428C>T, XM_047424699.1:c.1554C>T, NM_001297621.2:c.990C>T, NM_001297621.1:c.990C>T, XM_047424719.1:c.1545C>T, XM_047424890.1:c.1431C>T

          5.

          rs1477879072 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            1:23318669 (GRCh38)
            1:23645162 (GRCh37)
            Canonical SPDI:
            NC_000001.11:23318668:A:G
            Gene:
            HNRNPR (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.23318669A>G, NC_000001.10:g.23645162A>G, NW_014040926.1:g.88648A>G, XM_005245711.6:c.831T>C, XM_005245711.5:c.831T>C, XM_005245711.4:c.831T>C, XM_005245711.3:c.831T>C, XM_005245711.2:c.831T>C, XM_005245711.1:c.831T>C, NM_005826.5:c.831T>C, NM_005826.4:c.831T>C, NM_005826.3:c.831T>C, XM_011540472.4:c.738T>C, XM_011540472.3:c.663T>C, XM_011540472.2:c.663T>C, XM_011540472.1:c.663T>C, XM_017000010.3:c.654T>C, XM_017000010.2:c.654T>C, XM_017000010.1:c.654T>C, XM_017000009.3:c.654T>C, XM_017000009.2:c.654T>C, XM_017000009.1:c.654T>C, XM_011540471.4:c.840T>C, XM_011540471.3:c.840T>C, XM_011540471.2:c.840T>C, XM_011540471.1:c.840T>C, XM_011540474.4:c.726T>C, XM_011540474.3:c.726T>C, XM_011540474.2:c.726T>C, XM_011540474.1:c.726T>C, XM_011540476.4:c.423T>C, XM_011540476.3:c.423T>C, XM_011540476.2:c.423T>C, XM_011540476.1:c.423T>C, XM_011540477.4:c.360T>C, XM_011540477.3:c.360T>C, XM_011540477.2:c.360T>C, XM_011540477.1:c.360T>C, NM_001102398.3:c.840T>C, NM_001102398.2:c.840T>C, NM_001102398.1:c.840T>C, NM_001102399.3:c.537T>C, NM_001102399.2:c.537T>C, NM_001102399.1:c.537T>C, NM_001102397.3:c.528T>C, NM_001102397.2:c.528T>C, NM_001102397.1:c.528T>C, NM_001297620.2:c.717T>C, NM_001297620.1:c.717T>C, NM_001297622.2:c.414T>C, NM_001297622.1:c.414T>C, NM_001297621.2:c.351T>C, NM_001297621.1:c.351T>C, XM_047424699.1:c.915T>C, XM_047424712.1:c.912T>C, XM_047424719.1:c.906T>C, XM_047424758.1:c.903T>C, XM_047424843.1:c.801T>C, XM_047424890.1:c.792T>C, XM_047424931.1:c.789T>C, XM_047424994.1:c.729T>C

            6.

            rs1475146067 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:23323661 (GRCh38)
              1:23650154 (GRCh37)
              Canonical SPDI:
              NC_000001.11:23323660:G:A
              Gene:
              HNRNPR (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.23323661G>A, NC_000001.10:g.23650154G>A, NW_014040926.1:g.93640G>A, XM_005245711.6:c.570C>T, XM_005245711.5:c.570C>T, XM_005245711.4:c.570C>T, XM_005245711.3:c.570C>T, XM_005245711.2:c.570C>T, XM_005245711.1:c.570C>T, NM_005826.5:c.570C>T, NM_005826.4:c.570C>T, NM_005826.3:c.570C>T, XM_011540471.4:c.570C>T, XM_011540471.3:c.570C>T, XM_011540471.2:c.570C>T, XM_011540471.1:c.570C>T, XM_011540474.4:c.456C>T, XM_011540474.3:c.456C>T, XM_011540474.2:c.456C>T, XM_011540474.1:c.456C>T, XM_011540476.4:c.153C>T, XM_011540476.3:c.153C>T, XM_011540476.2:c.153C>T, XM_011540476.1:c.153C>T, NM_001102398.3:c.570C>T, NM_001102398.2:c.570C>T, NM_001102398.1:c.570C>T, NM_001102399.3:c.267C>T, NM_001102399.2:c.267C>T, NM_001102399.1:c.267C>T, NM_001102397.3:c.267C>T, NM_001102397.2:c.267C>T, NM_001102397.1:c.267C>T, NM_001297620.2:c.456C>T, NM_001297620.1:c.456C>T, NM_001297622.2:c.153C>T, NM_001297622.1:c.153C>T, XM_047424699.1:c.645C>T, XM_047424712.1:c.642C>T, XM_047424719.1:c.645C>T, XM_047424758.1:c.642C>T, XM_047424843.1:c.531C>T, XM_047424890.1:c.531C>T, XM_047424931.1:c.528C>T

              7.

              rs1473405357 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:23323564 (GRCh38)
                1:23650057 (GRCh37)
                Canonical SPDI:
                NC_000001.11:23323563:C:T
                Gene:
                HNRNPR (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000051/1 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000001.11:g.23323564C>T, NC_000001.10:g.23650057C>T, NW_014040926.1:g.93543C>T, XM_005245711.6:c.667G>A, XM_005245711.5:c.667G>A, XM_005245711.4:c.667G>A, XM_005245711.3:c.667G>A, XM_005245711.2:c.667G>A, XM_005245711.1:c.667G>A, NM_005826.5:c.667G>A, NM_005826.4:c.667G>A, NM_005826.3:c.667G>A, XM_011540471.4:c.667G>A, XM_011540471.3:c.667G>A, XM_011540471.2:c.667G>A, XM_011540471.1:c.667G>A, XM_011540474.4:c.553G>A, XM_011540474.3:c.553G>A, XM_011540474.2:c.553G>A, XM_011540474.1:c.553G>A, XM_011540476.4:c.250G>A, XM_011540476.3:c.250G>A, XM_011540476.2:c.250G>A, XM_011540476.1:c.250G>A, NM_001102398.3:c.667G>A, NM_001102398.2:c.667G>A, NM_001102398.1:c.667G>A, NM_001102399.3:c.364G>A, NM_001102399.2:c.364G>A, NM_001102399.1:c.364G>A, NM_001102397.3:c.364G>A, NM_001102397.2:c.364G>A, NM_001102397.1:c.364G>A, NM_001297620.2:c.553G>A, NM_001297620.1:c.553G>A, NM_001297622.2:c.250G>A, NM_001297622.1:c.250G>A, XM_047424699.1:c.742G>A, XM_047424712.1:c.739G>A, XM_047424719.1:c.742G>A, XM_047424758.1:c.739G>A, XM_047424843.1:c.628G>A, XM_047424890.1:c.628G>A, XM_047424931.1:c.625G>A, XP_005245768.1:p.Val223Met, NP_005817.1:p.Val223Met, XP_011538773.1:p.Val223Met, XP_011538776.1:p.Val185Met, XP_011538778.1:p.Val84Met, NP_001095868.1:p.Val223Met, NP_001095869.1:p.Val122Met, NP_001095867.1:p.Val122Met, NP_001284549.1:p.Val185Met, NP_001284551.1:p.Val84Met, XP_047280655.1:p.Val248Met, XP_047280668.1:p.Val247Met, XP_047280675.1:p.Val248Met, XP_047280714.1:p.Val247Met, XP_047280799.1:p.Val210Met, XP_047280846.1:p.Val210Met, XP_047280887.1:p.Val209Met

                8.

                rs1466377883 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  1:23310616 (GRCh38)
                  1:23637109 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:23310615:C:A
                  Gene:
                  HNRNPR (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.23310616C>A, NC_000001.10:g.23637109C>A, NW_014040926.1:g.80595C>A, XM_005245711.6:c.1740G>T, XM_005245711.5:c.1740G>T, XM_005245711.4:c.1740G>T, XM_005245711.3:c.1740G>T, XM_005245711.2:c.1740G>T, XM_005245711.1:c.1740G>T, NM_005826.5:c.1740G>T, NM_005826.4:c.1740G>T, NM_005826.3:c.1740G>T, XM_011540472.4:c.1647G>T, XM_011540472.3:c.1572G>T, XM_011540472.2:c.1572G>T, XM_011540472.1:c.1572G>T, XM_011540471.4:c.1749G>T, XM_011540471.3:c.1749G>T, XM_011540471.2:c.1749G>T, XM_011540471.1:c.1749G>T, XM_011540474.4:c.1635G>T, XM_011540474.3:c.1635G>T, XM_011540474.2:c.1635G>T, XM_011540474.1:c.1635G>T, XM_011540476.4:c.1332G>T, XM_011540476.3:c.1332G>T, XM_011540476.2:c.1332G>T, XM_011540476.1:c.1332G>T, XM_011540477.4:c.1269G>T, XM_011540477.3:c.1269G>T, XM_011540477.2:c.1269G>T, XM_011540477.1:c.1269G>T, NM_001102399.3:c.1446G>T, NM_001102399.2:c.1446G>T, NM_001102399.1:c.1446G>T, NM_001102397.3:c.1437G>T, NM_001102397.2:c.1437G>T, NM_001102397.1:c.1437G>T, XM_017000009.3:c.1563G>T, XM_017000009.2:c.1563G>T, XM_017000009.1:c.1563G>T, NM_001102398.3:c.1749G>T, NM_001102398.2:c.1749G>T, NM_001102398.1:c.1749G>T, XM_017000010.3:c.1563G>T, XM_017000010.2:c.1563G>T, XM_017000010.1:c.1563G>T, NM_001297620.2:c.1626G>T, NM_001297620.1:c.1626G>T, XM_047424712.1:c.1821G>T, XM_047424758.1:c.1812G>T, XM_047424843.1:c.1710G>T, XM_047424994.1:c.1638G>T, NM_001297622.1:c.1323G>T, NM_001297622.2:c.1323G>T, XM_047424931.1:c.1698G>T, XM_047424699.1:c.1824G>T, NM_001297621.2:c.1260G>T, NM_001297621.1:c.1260G>T, XM_047424719.1:c.1815G>T, XM_047424890.1:c.1701G>T, XP_005245768.1:p.Gln580His, NP_005817.1:p.Gln580His, XP_011538774.2:p.Gln549His, XP_011538773.1:p.Gln583His, XP_011538776.1:p.Gln545His, XP_011538778.1:p.Gln444His, XP_011538779.1:p.Gln423His, NP_001095869.1:p.Gln482His, NP_001095867.1:p.Gln479His, XP_016855498.1:p.Gln521His, NP_001095868.1:p.Gln583His, XP_016855499.1:p.Gln521His, NP_001284549.1:p.Gln542His, XP_047280668.1:p.Gln607His, XP_047280714.1:p.Gln604His, XP_047280799.1:p.Gln570His, XP_047280950.1:p.Gln546His, NP_001284551.1:p.Gln441His, XP_047280887.1:p.Gln566His, XP_047280655.1:p.Gln608His, NP_001284550.1:p.Gln420His, XP_047280675.1:p.Gln605His, XP_047280846.1:p.Gln567His

                  9.

                  rs1463685515 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    1:23310872 (GRCh38)
                    1:23637365 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:23310871:T:C
                    Gene:
                    HNRNPR (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.23310872T>C, NC_000001.10:g.23637365T>C, NW_014040926.1:g.80851T>C, XM_005245711.6:c.1484A>G, XM_005245711.5:c.1484A>G, XM_005245711.4:c.1484A>G, XM_005245711.3:c.1484A>G, XM_005245711.2:c.1484A>G, XM_005245711.1:c.1484A>G, NM_005826.5:c.1484A>G, NM_005826.4:c.1484A>G, NM_005826.3:c.1484A>G, XM_011540472.4:c.1391A>G, XM_011540472.3:c.1316A>G, XM_011540472.2:c.1316A>G, XM_011540472.1:c.1316A>G, XM_011540471.4:c.1493A>G, XM_011540471.3:c.1493A>G, XM_011540471.2:c.1493A>G, XM_011540471.1:c.1493A>G, XM_011540474.4:c.1379A>G, XM_011540474.3:c.1379A>G, XM_011540474.2:c.1379A>G, XM_011540474.1:c.1379A>G, XM_011540476.4:c.1076A>G, XM_011540476.3:c.1076A>G, XM_011540476.2:c.1076A>G, XM_011540476.1:c.1076A>G, XM_011540477.4:c.1013A>G, XM_011540477.3:c.1013A>G, XM_011540477.2:c.1013A>G, XM_011540477.1:c.1013A>G, NM_001102399.3:c.1190A>G, NM_001102399.2:c.1190A>G, NM_001102399.1:c.1190A>G, NM_001102397.3:c.1181A>G, NM_001102397.2:c.1181A>G, NM_001102397.1:c.1181A>G, XM_017000009.3:c.1307A>G, XM_017000009.2:c.1307A>G, XM_017000009.1:c.1307A>G, NM_001102398.3:c.1493A>G, NM_001102398.2:c.1493A>G, NM_001102398.1:c.1493A>G, XM_017000010.3:c.1307A>G, XM_017000010.2:c.1307A>G, XM_017000010.1:c.1307A>G, NM_001297620.2:c.1370A>G, NM_001297620.1:c.1370A>G, XM_047424712.1:c.1565A>G, XM_047424758.1:c.1556A>G, XM_047424843.1:c.1454A>G, XM_047424994.1:c.1382A>G, NM_001297622.1:c.1067A>G, NM_001297622.2:c.1067A>G, XM_047424931.1:c.1442A>G, XM_047424699.1:c.1568A>G, NM_001297621.2:c.1004A>G, NM_001297621.1:c.1004A>G, XM_047424719.1:c.1559A>G, XM_047424890.1:c.1445A>G, XP_005245768.1:p.Asp495Gly, NP_005817.1:p.Asp495Gly, XP_011538774.2:p.Asp464Gly, XP_011538773.1:p.Asp498Gly, XP_011538776.1:p.Asp460Gly, XP_011538778.1:p.Asp359Gly, XP_011538779.1:p.Asp338Gly, NP_001095869.1:p.Asp397Gly, NP_001095867.1:p.Asp394Gly, XP_016855498.1:p.Asp436Gly, NP_001095868.1:p.Asp498Gly, XP_016855499.1:p.Asp436Gly, NP_001284549.1:p.Asp457Gly, XP_047280668.1:p.Asp522Gly, XP_047280714.1:p.Asp519Gly, XP_047280799.1:p.Asp485Gly, XP_047280950.1:p.Asp461Gly, NP_001284551.1:p.Asp356Gly, XP_047280887.1:p.Asp481Gly, XP_047280655.1:p.Asp523Gly, NP_001284550.1:p.Asp335Gly, XP_047280675.1:p.Asp520Gly, XP_047280846.1:p.Asp482Gly

                    10.

                    rs1461465294 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:23311269 (GRCh38)
                      1:23637762 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:23311268:G:C
                      Gene:
                      HNRNPR (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.23311269G>C, NC_000001.10:g.23637762G>C, NW_014040926.1:g.81248G>C, XM_005245711.6:c.1221C>G, XM_005245711.5:c.1221C>G, XM_005245711.4:c.1221C>G, XM_005245711.3:c.1221C>G, XM_005245711.2:c.1221C>G, XM_005245711.1:c.1221C>G, NM_005826.5:c.1221C>G, NM_005826.4:c.1221C>G, NM_005826.3:c.1221C>G, XM_011540472.4:c.1128C>G, XM_011540472.3:c.1053C>G, XM_011540472.2:c.1053C>G, XM_011540472.1:c.1053C>G, XM_011540471.4:c.1230C>G, XM_011540471.3:c.1230C>G, XM_011540471.2:c.1230C>G, XM_011540471.1:c.1230C>G, XM_011540474.4:c.1116C>G, XM_011540474.3:c.1116C>G, XM_011540474.2:c.1116C>G, XM_011540474.1:c.1116C>G, XM_011540476.4:c.813C>G, XM_011540476.3:c.813C>G, XM_011540476.2:c.813C>G, XM_011540476.1:c.813C>G, XM_011540477.4:c.750C>G, XM_011540477.3:c.750C>G, XM_011540477.2:c.750C>G, XM_011540477.1:c.750C>G, NM_001102399.3:c.927C>G, NM_001102399.2:c.927C>G, NM_001102399.1:c.927C>G, NM_001102397.3:c.918C>G, NM_001102397.2:c.918C>G, NM_001102397.1:c.918C>G, XM_017000009.3:c.1044C>G, XM_017000009.2:c.1044C>G, XM_017000009.1:c.1044C>G, NM_001102398.3:c.1230C>G, NM_001102398.2:c.1230C>G, NM_001102398.1:c.1230C>G, XM_017000010.3:c.1044C>G, XM_017000010.2:c.1044C>G, XM_017000010.1:c.1044C>G, NM_001297620.2:c.1107C>G, NM_001297620.1:c.1107C>G, XM_047424712.1:c.1302C>G, XM_047424758.1:c.1293C>G, XM_047424843.1:c.1191C>G, XM_047424994.1:c.1119C>G, NM_001297622.1:c.804C>G, NM_001297622.2:c.804C>G, XM_047424931.1:c.1179C>G, XM_047424699.1:c.1305C>G, NM_001297621.2:c.741C>G, NM_001297621.1:c.741C>G, XM_047424890.1:c.1182C>G, XM_047424719.1:c.1296C>G

                      11.

                      rs1453239310 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        1:23310927 (GRCh38)
                        1:23637420 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:23310926:A:T
                        Gene:
                        HNRNPR (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.23310927A>T, NC_000001.10:g.23637420A>T, NW_014040926.1:g.80906A>T, XM_005245711.6:c.1429T>A, XM_005245711.5:c.1429T>A, XM_005245711.4:c.1429T>A, XM_005245711.3:c.1429T>A, XM_005245711.2:c.1429T>A, XM_005245711.1:c.1429T>A, NM_005826.5:c.1429T>A, NM_005826.4:c.1429T>A, NM_005826.3:c.1429T>A, XM_011540472.4:c.1336T>A, XM_011540472.3:c.1261T>A, XM_011540472.2:c.1261T>A, XM_011540472.1:c.1261T>A, XM_011540471.4:c.1438T>A, XM_011540471.3:c.1438T>A, XM_011540471.2:c.1438T>A, XM_011540471.1:c.1438T>A, XM_011540474.4:c.1324T>A, XM_011540474.3:c.1324T>A, XM_011540474.2:c.1324T>A, XM_011540474.1:c.1324T>A, XM_011540476.4:c.1021T>A, XM_011540476.3:c.1021T>A, XM_011540476.2:c.1021T>A, XM_011540476.1:c.1021T>A, XM_011540477.4:c.958T>A, XM_011540477.3:c.958T>A, XM_011540477.2:c.958T>A, XM_011540477.1:c.958T>A, NM_001102399.3:c.1135T>A, NM_001102399.2:c.1135T>A, NM_001102399.1:c.1135T>A, NM_001102397.3:c.1126T>A, NM_001102397.2:c.1126T>A, NM_001102397.1:c.1126T>A, XM_017000009.3:c.1252T>A, XM_017000009.2:c.1252T>A, XM_017000009.1:c.1252T>A, NM_001102398.3:c.1438T>A, NM_001102398.2:c.1438T>A, NM_001102398.1:c.1438T>A, XM_017000010.3:c.1252T>A, XM_017000010.2:c.1252T>A, XM_017000010.1:c.1252T>A, NM_001297620.2:c.1315T>A, NM_001297620.1:c.1315T>A, XM_047424712.1:c.1510T>A, XM_047424758.1:c.1501T>A, XM_047424843.1:c.1399T>A, XM_047424994.1:c.1327T>A, NM_001297622.1:c.1012T>A, NM_001297622.2:c.1012T>A, XM_047424931.1:c.1387T>A, XM_047424699.1:c.1513T>A, NM_001297621.2:c.949T>A, NM_001297621.1:c.949T>A, XM_047424719.1:c.1504T>A, XM_047424890.1:c.1390T>A, XP_005245768.1:p.Tyr477Asn, NP_005817.1:p.Tyr477Asn, XP_011538774.2:p.Tyr446Asn, XP_011538773.1:p.Tyr480Asn, XP_011538776.1:p.Tyr442Asn, XP_011538778.1:p.Tyr341Asn, XP_011538779.1:p.Tyr320Asn, NP_001095869.1:p.Tyr379Asn, NP_001095867.1:p.Tyr376Asn, XP_016855498.1:p.Tyr418Asn, NP_001095868.1:p.Tyr480Asn, XP_016855499.1:p.Tyr418Asn, NP_001284549.1:p.Tyr439Asn, XP_047280668.1:p.Tyr504Asn, XP_047280714.1:p.Tyr501Asn, XP_047280799.1:p.Tyr467Asn, XP_047280950.1:p.Tyr443Asn, NP_001284551.1:p.Tyr338Asn, XP_047280887.1:p.Tyr463Asn, XP_047280655.1:p.Tyr505Asn, NP_001284550.1:p.Tyr317Asn, XP_047280675.1:p.Tyr502Asn, XP_047280846.1:p.Tyr464Asn

                        12.

                        rs1452420791 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:23318518 (GRCh38)
                          1:23645011 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:23318517:G:C
                          Gene:
                          HNRNPR (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000111/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.23318518G>C, NC_000001.10:g.23645011G>C, NW_014040926.1:g.88497G>C, XM_005245711.6:c.982C>G, XM_005245711.5:c.982C>G, XM_005245711.4:c.982C>G, XM_005245711.3:c.982C>G, XM_005245711.2:c.982C>G, XM_005245711.1:c.982C>G, NM_005826.5:c.982C>G, NM_005826.4:c.982C>G, NM_005826.3:c.982C>G, XM_011540472.4:c.889C>G, XM_011540472.3:c.814C>G, XM_011540472.2:c.814C>G, XM_011540472.1:c.814C>G, XM_017000010.3:c.805C>G, XM_017000010.2:c.805C>G, XM_017000010.1:c.805C>G, XM_017000009.3:c.805C>G, XM_017000009.2:c.805C>G, XM_017000009.1:c.805C>G, XM_011540471.4:c.991C>G, XM_011540471.3:c.991C>G, XM_011540471.2:c.991C>G, XM_011540471.1:c.991C>G, XM_011540474.4:c.877C>G, XM_011540474.3:c.877C>G, XM_011540474.2:c.877C>G, XM_011540474.1:c.877C>G, XM_011540476.4:c.574C>G, XM_011540476.3:c.574C>G, XM_011540476.2:c.574C>G, XM_011540476.1:c.574C>G, XM_011540477.4:c.511C>G, XM_011540477.3:c.511C>G, XM_011540477.2:c.511C>G, XM_011540477.1:c.511C>G, NM_001102398.3:c.991C>G, NM_001102398.2:c.991C>G, NM_001102398.1:c.991C>G, NM_001102399.3:c.688C>G, NM_001102399.2:c.688C>G, NM_001102399.1:c.688C>G, NM_001102397.3:c.679C>G, NM_001102397.2:c.679C>G, NM_001102397.1:c.679C>G, NM_001297620.2:c.868C>G, NM_001297620.1:c.868C>G, NM_001297622.2:c.565C>G, NM_001297622.1:c.565C>G, NM_001297621.2:c.502C>G, NM_001297621.1:c.502C>G, XM_047424699.1:c.1066C>G, XM_047424712.1:c.1063C>G, XM_047424719.1:c.1057C>G, XM_047424758.1:c.1054C>G, XM_047424843.1:c.952C>G, XM_047424890.1:c.943C>G, XM_047424931.1:c.940C>G, XM_047424994.1:c.880C>G, XP_005245768.1:p.Pro328Ala, NP_005817.1:p.Pro328Ala, XP_011538774.2:p.Pro297Ala, XP_016855499.1:p.Pro269Ala, XP_016855498.1:p.Pro269Ala, XP_011538773.1:p.Pro331Ala, XP_011538776.1:p.Pro293Ala, XP_011538778.1:p.Pro192Ala, XP_011538779.1:p.Pro171Ala, NP_001095868.1:p.Pro331Ala, NP_001095869.1:p.Pro230Ala, NP_001095867.1:p.Pro227Ala, NP_001284549.1:p.Pro290Ala, NP_001284551.1:p.Pro189Ala, NP_001284550.1:p.Pro168Ala, XP_047280655.1:p.Pro356Ala, XP_047280668.1:p.Pro355Ala, XP_047280675.1:p.Pro353Ala, XP_047280714.1:p.Pro352Ala, XP_047280799.1:p.Pro318Ala, XP_047280846.1:p.Pro315Ala, XP_047280887.1:p.Pro314Ala, XP_047280950.1:p.Pro294Ala

                          13.

                          rs1451450921 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,T [Show Flanks]
                            Chromosome:
                            1:23310753 (GRCh38)
                            1:23637246 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:23310752:G:A,NC_000001.11:23310752:G:T
                            Gene:
                            HNRNPR (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by cluster
                            HGVS:
                            NC_000001.11:g.23310753G>A, NC_000001.11:g.23310753G>T, NC_000001.10:g.23637246G>A, NC_000001.10:g.23637246G>T, NW_014040926.1:g.80732G>A, NW_014040926.1:g.80732G>T, XM_005245711.6:c.1603C>T, XM_005245711.6:c.1603C>A, XM_005245711.5:c.1603C>T, XM_005245711.5:c.1603C>A, XM_005245711.4:c.1603C>T, XM_005245711.4:c.1603C>A, XM_005245711.3:c.1603C>T, XM_005245711.3:c.1603C>A, XM_005245711.2:c.1603C>T, XM_005245711.2:c.1603C>A, XM_005245711.1:c.1603C>T, XM_005245711.1:c.1603C>A, NM_005826.5:c.1603C>T, NM_005826.5:c.1603C>A, NM_005826.4:c.1603C>T, NM_005826.4:c.1603C>A, NM_005826.3:c.1603C>T, NM_005826.3:c.1603C>A, XM_011540472.4:c.1510C>T, XM_011540472.4:c.1510C>A, XM_011540472.3:c.1435C>T, XM_011540472.3:c.1435C>A, XM_011540472.2:c.1435C>T, XM_011540472.2:c.1435C>A, XM_011540472.1:c.1435C>T, XM_011540472.1:c.1435C>A, XM_011540471.4:c.1612C>T, XM_011540471.4:c.1612C>A, XM_011540471.3:c.1612C>T, XM_011540471.3:c.1612C>A, XM_011540471.2:c.1612C>T, XM_011540471.2:c.1612C>A, XM_011540471.1:c.1612C>T, XM_011540471.1:c.1612C>A, XM_011540474.4:c.1498C>T, XM_011540474.4:c.1498C>A, XM_011540474.3:c.1498C>T, XM_011540474.3:c.1498C>A, XM_011540474.2:c.1498C>T, XM_011540474.2:c.1498C>A, XM_011540474.1:c.1498C>T, XM_011540474.1:c.1498C>A, XM_011540476.4:c.1195C>T, XM_011540476.4:c.1195C>A, XM_011540476.3:c.1195C>T, XM_011540476.3:c.1195C>A, XM_011540476.2:c.1195C>T, XM_011540476.2:c.1195C>A, XM_011540476.1:c.1195C>T, XM_011540476.1:c.1195C>A, XM_011540477.4:c.1132C>T, XM_011540477.4:c.1132C>A, XM_011540477.3:c.1132C>T, XM_011540477.3:c.1132C>A, XM_011540477.2:c.1132C>T, XM_011540477.2:c.1132C>A, XM_011540477.1:c.1132C>T, XM_011540477.1:c.1132C>A, NM_001102399.3:c.1309C>T, NM_001102399.3:c.1309C>A, NM_001102399.2:c.1309C>T, NM_001102399.2:c.1309C>A, NM_001102399.1:c.1309C>T, NM_001102399.1:c.1309C>A, NM_001102397.3:c.1300C>T, NM_001102397.3:c.1300C>A, NM_001102397.2:c.1300C>T, NM_001102397.2:c.1300C>A, NM_001102397.1:c.1300C>T, NM_001102397.1:c.1300C>A, XM_017000009.3:c.1426C>T, XM_017000009.3:c.1426C>A, XM_017000009.2:c.1426C>T, XM_017000009.2:c.1426C>A, XM_017000009.1:c.1426C>T, XM_017000009.1:c.1426C>A, NM_001102398.3:c.1612C>T, NM_001102398.3:c.1612C>A, NM_001102398.2:c.1612C>T, NM_001102398.2:c.1612C>A, NM_001102398.1:c.1612C>T, NM_001102398.1:c.1612C>A, XM_017000010.3:c.1426C>T, XM_017000010.3:c.1426C>A, XM_017000010.2:c.1426C>T, XM_017000010.2:c.1426C>A, XM_017000010.1:c.1426C>T, XM_017000010.1:c.1426C>A, NM_001297620.2:c.1489C>T, NM_001297620.2:c.1489C>A, NM_001297620.1:c.1489C>T, NM_001297620.1:c.1489C>A, XM_047424712.1:c.1684C>T, XM_047424712.1:c.1684C>A, XM_047424758.1:c.1675C>T, XM_047424758.1:c.1675C>A, XM_047424843.1:c.1573C>T, XM_047424843.1:c.1573C>A, XM_047424994.1:c.1501C>T, XM_047424994.1:c.1501C>A, NM_001297622.1:c.1186C>T, NM_001297622.1:c.1186C>A, NM_001297622.2:c.1186C>T, NM_001297622.2:c.1186C>A, XM_047424931.1:c.1561C>T, XM_047424931.1:c.1561C>A, XM_047424699.1:c.1687C>T, XM_047424699.1:c.1687C>A, NM_001297621.2:c.1123C>T, NM_001297621.2:c.1123C>A, NM_001297621.1:c.1123C>T, NM_001297621.1:c.1123C>A, XM_047424719.1:c.1678C>T, XM_047424719.1:c.1678C>A, XM_047424890.1:c.1564C>T, XM_047424890.1:c.1564C>A, XP_005245768.1:p.Pro535Ser, XP_005245768.1:p.Pro535Thr, NP_005817.1:p.Pro535Ser, NP_005817.1:p.Pro535Thr, XP_011538774.2:p.Pro504Ser, XP_011538774.2:p.Pro504Thr, XP_011538773.1:p.Pro538Ser, XP_011538773.1:p.Pro538Thr, XP_011538776.1:p.Pro500Ser, XP_011538776.1:p.Pro500Thr, XP_011538778.1:p.Pro399Ser, XP_011538778.1:p.Pro399Thr, XP_011538779.1:p.Pro378Ser, XP_011538779.1:p.Pro378Thr, NP_001095869.1:p.Pro437Ser, NP_001095869.1:p.Pro437Thr, NP_001095867.1:p.Pro434Ser, NP_001095867.1:p.Pro434Thr, XP_016855498.1:p.Pro476Ser, XP_016855498.1:p.Pro476Thr, NP_001095868.1:p.Pro538Ser, NP_001095868.1:p.Pro538Thr, XP_016855499.1:p.Pro476Ser, XP_016855499.1:p.Pro476Thr, NP_001284549.1:p.Pro497Ser, NP_001284549.1:p.Pro497Thr, XP_047280668.1:p.Pro562Ser, XP_047280668.1:p.Pro562Thr, XP_047280714.1:p.Pro559Ser, XP_047280714.1:p.Pro559Thr, XP_047280799.1:p.Pro525Ser, XP_047280799.1:p.Pro525Thr, XP_047280950.1:p.Pro501Ser, XP_047280950.1:p.Pro501Thr, NP_001284551.1:p.Pro396Ser, NP_001284551.1:p.Pro396Thr, XP_047280887.1:p.Pro521Ser, XP_047280887.1:p.Pro521Thr, XP_047280655.1:p.Pro563Ser, XP_047280655.1:p.Pro563Thr, NP_001284550.1:p.Pro375Ser, NP_001284550.1:p.Pro375Thr, XP_047280675.1:p.Pro560Ser, XP_047280675.1:p.Pro560Thr, XP_047280846.1:p.Pro522Ser, XP_047280846.1:p.Pro522Thr

                            14.

                            rs1447005712 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              1:23311284 (GRCh38)
                              1:23637777 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:23311283:T:C
                              Gene:
                              HNRNPR (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.23311284T>C, NC_000001.10:g.23637777T>C, NW_014040926.1:g.81263T>C, XM_005245711.6:c.1206A>G, XM_005245711.5:c.1206A>G, XM_005245711.4:c.1206A>G, XM_005245711.3:c.1206A>G, XM_005245711.2:c.1206A>G, XM_005245711.1:c.1206A>G, NM_005826.5:c.1206A>G, NM_005826.4:c.1206A>G, NM_005826.3:c.1206A>G, XM_011540472.4:c.1113A>G, XM_011540472.3:c.1038A>G, XM_011540472.2:c.1038A>G, XM_011540472.1:c.1038A>G, XM_017000010.3:c.1029A>G, XM_017000010.2:c.1029A>G, XM_017000010.1:c.1029A>G, XM_017000009.3:c.1029A>G, XM_017000009.2:c.1029A>G, XM_017000009.1:c.1029A>G, XM_011540471.4:c.1215A>G, XM_011540471.3:c.1215A>G, XM_011540471.2:c.1215A>G, XM_011540471.1:c.1215A>G, XM_011540474.4:c.1101A>G, XM_011540474.3:c.1101A>G, XM_011540474.2:c.1101A>G, XM_011540474.1:c.1101A>G, XM_011540476.4:c.798A>G, XM_011540476.3:c.798A>G, XM_011540476.2:c.798A>G, XM_011540476.1:c.798A>G, XM_011540477.4:c.735A>G, XM_011540477.3:c.735A>G, XM_011540477.2:c.735A>G, XM_011540477.1:c.735A>G, NM_001102398.3:c.1215A>G, NM_001102398.2:c.1215A>G, NM_001102398.1:c.1215A>G, NM_001102399.3:c.912A>G, NM_001102399.2:c.912A>G, NM_001102399.1:c.912A>G, NM_001102397.3:c.903A>G, NM_001102397.2:c.903A>G, NM_001102397.1:c.903A>G, NM_001297620.2:c.1092A>G, NM_001297620.1:c.1092A>G, NM_001297622.2:c.789A>G, NM_001297622.1:c.789A>G, NM_001297621.2:c.726A>G, NM_001297621.1:c.726A>G, XM_047424699.1:c.1290A>G, XM_047424712.1:c.1287A>G, XM_047424719.1:c.1281A>G, XM_047424758.1:c.1278A>G, XM_047424843.1:c.1176A>G, XM_047424890.1:c.1167A>G, XM_047424931.1:c.1164A>G, XM_047424994.1:c.1104A>G

                              15.

                              rs1444205115 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:23310694 (GRCh38)
                                1:23637187 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:23310693:T:C
                                Gene:
                                HNRNPR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.23310694T>C, NC_000001.10:g.23637187T>C, NW_014040926.1:g.80673T>C, XM_005245711.6:c.1662A>G, XM_005245711.5:c.1662A>G, XM_005245711.4:c.1662A>G, XM_005245711.3:c.1662A>G, XM_005245711.2:c.1662A>G, XM_005245711.1:c.1662A>G, NM_005826.5:c.1662A>G, NM_005826.4:c.1662A>G, NM_005826.3:c.1662A>G, XM_011540472.4:c.1569A>G, XM_011540472.3:c.1494A>G, XM_011540472.2:c.1494A>G, XM_011540472.1:c.1494A>G, XM_017000010.3:c.1485A>G, XM_017000010.2:c.1485A>G, XM_017000010.1:c.1485A>G, XM_017000009.3:c.1485A>G, XM_017000009.2:c.1485A>G, XM_017000009.1:c.1485A>G, XM_011540471.4:c.1671A>G, XM_011540471.3:c.1671A>G, XM_011540471.2:c.1671A>G, XM_011540471.1:c.1671A>G, XM_011540474.4:c.1557A>G, XM_011540474.3:c.1557A>G, XM_011540474.2:c.1557A>G, XM_011540474.1:c.1557A>G, XM_011540476.4:c.1254A>G, XM_011540476.3:c.1254A>G, XM_011540476.2:c.1254A>G, XM_011540476.1:c.1254A>G, XM_011540477.4:c.1191A>G, XM_011540477.3:c.1191A>G, XM_011540477.2:c.1191A>G, XM_011540477.1:c.1191A>G, NM_001102398.3:c.1671A>G, NM_001102398.2:c.1671A>G, NM_001102398.1:c.1671A>G, NM_001102399.3:c.1368A>G, NM_001102399.2:c.1368A>G, NM_001102399.1:c.1368A>G, NM_001102397.3:c.1359A>G, NM_001102397.2:c.1359A>G, NM_001102397.1:c.1359A>G, NM_001297620.2:c.1548A>G, NM_001297620.1:c.1548A>G, NM_001297622.2:c.1245A>G, NM_001297622.1:c.1245A>G, NM_001297621.2:c.1182A>G, NM_001297621.1:c.1182A>G, XM_047424699.1:c.1746A>G, XM_047424712.1:c.1743A>G, XM_047424719.1:c.1737A>G, XM_047424758.1:c.1734A>G, XM_047424843.1:c.1632A>G, XM_047424890.1:c.1623A>G, XM_047424931.1:c.1620A>G, XM_047424994.1:c.1560A>G

                                16.

                                rs1443289299 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  1:23323643 (GRCh38)
                                  1:23650136 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:23323642:A:T
                                  Gene:
                                  HNRNPR (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.23323643A>T, NC_000001.10:g.23650136A>T, NW_014040926.1:g.93622A>T, XM_005245711.6:c.588T>A, XM_005245711.5:c.588T>A, XM_005245711.4:c.588T>A, XM_005245711.3:c.588T>A, XM_005245711.2:c.588T>A, XM_005245711.1:c.588T>A, NM_005826.5:c.588T>A, NM_005826.4:c.588T>A, NM_005826.3:c.588T>A, XM_011540471.4:c.588T>A, XM_011540471.3:c.588T>A, XM_011540471.2:c.588T>A, XM_011540471.1:c.588T>A, XM_011540474.4:c.474T>A, XM_011540474.3:c.474T>A, XM_011540474.2:c.474T>A, XM_011540474.1:c.474T>A, XM_011540476.4:c.171T>A, XM_011540476.3:c.171T>A, XM_011540476.2:c.171T>A, XM_011540476.1:c.171T>A, NM_001102398.3:c.588T>A, NM_001102398.2:c.588T>A, NM_001102398.1:c.588T>A, NM_001102399.3:c.285T>A, NM_001102399.2:c.285T>A, NM_001102399.1:c.285T>A, NM_001102397.3:c.285T>A, NM_001102397.2:c.285T>A, NM_001102397.1:c.285T>A, NM_001297620.2:c.474T>A, NM_001297620.1:c.474T>A, NM_001297622.2:c.171T>A, NM_001297622.1:c.171T>A, XM_047424699.1:c.663T>A, XM_047424712.1:c.660T>A, XM_047424719.1:c.663T>A, XM_047424758.1:c.660T>A, XM_047424843.1:c.549T>A, XM_047424890.1:c.549T>A, XM_047424931.1:c.546T>A

                                  17.

                                  rs1438789863 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    1:23333537 (GRCh38)
                                    1:23660030 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:23333536:T:G
                                    Gene:
                                    HNRNPR (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.23333537T>G, NC_000001.10:g.23660030T>G, NW_014040926.1:g.103516T>G, XM_005245711.6:c.479A>C, XM_005245711.5:c.479A>C, XM_005245711.4:c.479A>C, XM_005245711.3:c.479A>C, XM_005245711.2:c.479A>C, XM_005245711.1:c.479A>C, NM_005826.5:c.479A>C, NM_005826.4:c.479A>C, NM_005826.3:c.479A>C, XM_011540472.4:c.554A>C, XM_011540472.3:c.479A>C, XM_011540472.2:c.479A>C, XM_011540472.1:c.479A>C, XM_017000010.3:c.479A>C, XM_017000010.2:c.479A>C, XM_017000010.1:c.479A>C, XM_017000009.3:c.479A>C, XM_017000009.2:c.479A>C, XM_017000009.1:c.479A>C, XM_011540471.4:c.479A>C, XM_011540471.3:c.479A>C, XM_011540471.2:c.479A>C, XM_011540471.1:c.479A>C, XM_011540477.4:c.176A>C, XM_011540477.3:c.176A>C, XM_011540477.2:c.176A>C, XM_011540477.1:c.176A>C, NM_001102398.3:c.479A>C, NM_001102398.2:c.479A>C, NM_001102398.1:c.479A>C, NM_001102399.3:c.176A>C, NM_001102399.2:c.176A>C, NM_001102399.1:c.176A>C, NM_001102397.3:c.176A>C, NM_001102397.2:c.176A>C, NM_001102397.1:c.176A>C, NM_001297621.2:c.176A>C, NM_001297621.1:c.176A>C, XM_047424699.1:c.554A>C, XM_047424712.1:c.551A>C, XM_047424719.1:c.554A>C, XM_047424758.1:c.551A>C, XM_047424994.1:c.554A>C, XP_005245768.1:p.Gln160Pro, NP_005817.1:p.Gln160Pro, XP_011538774.2:p.Gln185Pro, XP_016855499.1:p.Gln160Pro, XP_016855498.1:p.Gln160Pro, XP_011538773.1:p.Gln160Pro, XP_011538779.1:p.Gln59Pro, NP_001095868.1:p.Gln160Pro, NP_001095869.1:p.Gln59Pro, NP_001095867.1:p.Gln59Pro, NP_001284550.1:p.Gln59Pro, XP_047280655.1:p.Gln185Pro, XP_047280668.1:p.Gln184Pro, XP_047280675.1:p.Gln185Pro, XP_047280714.1:p.Gln184Pro, XP_047280950.1:p.Gln185Pro

                                    18.

                                    rs1435152762 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      1:23310817 (GRCh38)
                                      1:23637310 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:23310816:T:C
                                      Gene:
                                      HNRNPR (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.00004/1 (TOMMO)
                                      HGVS:
                                      NC_000001.11:g.23310817T>C, NC_000001.10:g.23637310T>C, NW_014040926.1:g.80796T>C, XM_005245711.6:c.1539A>G, XM_005245711.5:c.1539A>G, XM_005245711.4:c.1539A>G, XM_005245711.3:c.1539A>G, XM_005245711.2:c.1539A>G, XM_005245711.1:c.1539A>G, NM_005826.5:c.1539A>G, NM_005826.4:c.1539A>G, NM_005826.3:c.1539A>G, XM_011540472.4:c.1446A>G, XM_011540472.3:c.1371A>G, XM_011540472.2:c.1371A>G, XM_011540472.1:c.1371A>G, XM_011540471.4:c.1548A>G, XM_011540471.3:c.1548A>G, XM_011540471.2:c.1548A>G, XM_011540471.1:c.1548A>G, XM_011540474.4:c.1434A>G, XM_011540474.3:c.1434A>G, XM_011540474.2:c.1434A>G, XM_011540474.1:c.1434A>G, XM_011540476.4:c.1131A>G, XM_011540476.3:c.1131A>G, XM_011540476.2:c.1131A>G, XM_011540476.1:c.1131A>G, XM_011540477.4:c.1068A>G, XM_011540477.3:c.1068A>G, XM_011540477.2:c.1068A>G, XM_011540477.1:c.1068A>G, NM_001102399.3:c.1245A>G, NM_001102399.2:c.1245A>G, NM_001102399.1:c.1245A>G, NM_001102397.3:c.1236A>G, NM_001102397.2:c.1236A>G, NM_001102397.1:c.1236A>G, XM_017000009.3:c.1362A>G, XM_017000009.2:c.1362A>G, XM_017000009.1:c.1362A>G, NM_001102398.3:c.1548A>G, NM_001102398.2:c.1548A>G, NM_001102398.1:c.1548A>G, XM_017000010.3:c.1362A>G, XM_017000010.2:c.1362A>G, XM_017000010.1:c.1362A>G, NM_001297620.2:c.1425A>G, NM_001297620.1:c.1425A>G, XM_047424712.1:c.1620A>G, XM_047424758.1:c.1611A>G, XM_047424843.1:c.1509A>G, XM_047424994.1:c.1437A>G, NM_001297622.1:c.1122A>G, NM_001297622.2:c.1122A>G, XM_047424931.1:c.1497A>G, XM_047424699.1:c.1623A>G, NM_001297621.2:c.1059A>G, NM_001297621.1:c.1059A>G, XM_047424890.1:c.1500A>G, XM_047424719.1:c.1614A>G

                                      19.

                                      rs1433390735 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        1:23310852 (GRCh38)
                                        1:23637345 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:23310851:T:C
                                        Gene:
                                        HNRNPR (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000142/2 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.23310852T>C, NC_000001.10:g.23637345T>C, NW_014040926.1:g.80831T>C, XM_005245711.6:c.1504A>G, XM_005245711.5:c.1504A>G, XM_005245711.4:c.1504A>G, XM_005245711.3:c.1504A>G, XM_005245711.2:c.1504A>G, XM_005245711.1:c.1504A>G, NM_005826.5:c.1504A>G, NM_005826.4:c.1504A>G, NM_005826.3:c.1504A>G, XM_011540472.4:c.1411A>G, XM_011540472.3:c.1336A>G, XM_011540472.2:c.1336A>G, XM_011540472.1:c.1336A>G, XM_011540471.4:c.1513A>G, XM_011540471.3:c.1513A>G, XM_011540471.2:c.1513A>G, XM_011540471.1:c.1513A>G, XM_011540474.4:c.1399A>G, XM_011540474.3:c.1399A>G, XM_011540474.2:c.1399A>G, XM_011540474.1:c.1399A>G, XM_011540476.4:c.1096A>G, XM_011540476.3:c.1096A>G, XM_011540476.2:c.1096A>G, XM_011540476.1:c.1096A>G, XM_011540477.4:c.1033A>G, XM_011540477.3:c.1033A>G, XM_011540477.2:c.1033A>G, XM_011540477.1:c.1033A>G, NM_001102399.3:c.1210A>G, NM_001102399.2:c.1210A>G, NM_001102399.1:c.1210A>G, NM_001102397.3:c.1201A>G, NM_001102397.2:c.1201A>G, NM_001102397.1:c.1201A>G, XM_017000009.3:c.1327A>G, XM_017000009.2:c.1327A>G, XM_017000009.1:c.1327A>G, NM_001102398.3:c.1513A>G, NM_001102398.2:c.1513A>G, NM_001102398.1:c.1513A>G, XM_017000010.3:c.1327A>G, XM_017000010.2:c.1327A>G, XM_017000010.1:c.1327A>G, NM_001297620.2:c.1390A>G, NM_001297620.1:c.1390A>G, XM_047424712.1:c.1585A>G, XM_047424758.1:c.1576A>G, XM_047424843.1:c.1474A>G, XM_047424994.1:c.1402A>G, NM_001297622.1:c.1087A>G, NM_001297622.2:c.1087A>G, XM_047424931.1:c.1462A>G, XM_047424699.1:c.1588A>G, NM_001297621.2:c.1024A>G, NM_001297621.1:c.1024A>G, XM_047424890.1:c.1465A>G, XM_047424719.1:c.1579A>G, XP_005245768.1:p.Arg502Gly, NP_005817.1:p.Arg502Gly, XP_011538774.2:p.Arg471Gly, XP_011538773.1:p.Arg505Gly, XP_011538776.1:p.Arg467Gly, XP_011538778.1:p.Arg366Gly, XP_011538779.1:p.Arg345Gly, NP_001095869.1:p.Arg404Gly, NP_001095867.1:p.Arg401Gly, XP_016855498.1:p.Arg443Gly, NP_001095868.1:p.Arg505Gly, XP_016855499.1:p.Arg443Gly, NP_001284549.1:p.Arg464Gly, XP_047280668.1:p.Arg529Gly, XP_047280714.1:p.Arg526Gly, XP_047280799.1:p.Arg492Gly, XP_047280950.1:p.Arg468Gly, NP_001284551.1:p.Arg363Gly, XP_047280887.1:p.Arg488Gly, XP_047280655.1:p.Arg530Gly, NP_001284550.1:p.Arg342Gly, XP_047280846.1:p.Arg489Gly, XP_047280675.1:p.Arg527Gly

                                        20.

                                        rs1430097125 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          1:23310904 (GRCh38)
                                          1:23637397 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:23310903:T:C
                                          Gene:
                                          HNRNPR (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.23310904T>C, NC_000001.10:g.23637397T>C, NW_014040926.1:g.80883T>C, XM_005245711.6:c.1452A>G, XM_005245711.5:c.1452A>G, XM_005245711.4:c.1452A>G, XM_005245711.3:c.1452A>G, XM_005245711.2:c.1452A>G, XM_005245711.1:c.1452A>G, NM_005826.5:c.1452A>G, NM_005826.4:c.1452A>G, NM_005826.3:c.1452A>G, XM_011540472.4:c.1359A>G, XM_011540472.3:c.1284A>G, XM_011540472.2:c.1284A>G, XM_011540472.1:c.1284A>G, XM_011540471.4:c.1461A>G, XM_011540471.3:c.1461A>G, XM_011540471.2:c.1461A>G, XM_011540471.1:c.1461A>G, XM_011540474.4:c.1347A>G, XM_011540474.3:c.1347A>G, XM_011540474.2:c.1347A>G, XM_011540474.1:c.1347A>G, XM_011540476.4:c.1044A>G, XM_011540476.3:c.1044A>G, XM_011540476.2:c.1044A>G, XM_011540476.1:c.1044A>G, XM_011540477.4:c.981A>G, XM_011540477.3:c.981A>G, XM_011540477.2:c.981A>G, XM_011540477.1:c.981A>G, NM_001102399.3:c.1158A>G, NM_001102399.2:c.1158A>G, NM_001102399.1:c.1158A>G, NM_001102397.3:c.1149A>G, NM_001102397.2:c.1149A>G, NM_001102397.1:c.1149A>G, XM_017000009.3:c.1275A>G, XM_017000009.2:c.1275A>G, XM_017000009.1:c.1275A>G, NM_001102398.3:c.1461A>G, NM_001102398.2:c.1461A>G, NM_001102398.1:c.1461A>G, XM_017000010.3:c.1275A>G, XM_017000010.2:c.1275A>G, XM_017000010.1:c.1275A>G, NM_001297620.2:c.1338A>G, NM_001297620.1:c.1338A>G, XM_047424712.1:c.1533A>G, XM_047424758.1:c.1524A>G, XM_047424843.1:c.1422A>G, XM_047424994.1:c.1350A>G, NM_001297622.1:c.1035A>G, NM_001297622.2:c.1035A>G, XM_047424931.1:c.1410A>G, XM_047424699.1:c.1536A>G, NM_001297621.2:c.972A>G, NM_001297621.1:c.972A>G, XM_047424719.1:c.1527A>G, XM_047424890.1:c.1413A>G

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