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Items: 1 to 20 of 316

1.

rs1485769648 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    2:201160442 (GRCh38)
    2:202025165 (GRCh37)
    Canonical SPDI:
    NC_000002.12:201160441:A:T
    Gene:
    CFLAR (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.201160442A>T, NC_000002.11:g.202025165A>T, NG_029005.1:g.49289A>T, NM_003879.7:c.804A>T, NM_003879.6:c.804A>T, NM_003879.5:c.804A>T, NM_001127183.4:c.804A>T, NM_001127183.3:c.804A>T, NM_001127183.2:c.804A>T, NM_001202516.3:c.699A>T, NM_001202516.2:c.699A>T, NM_001202516.1:c.699A>T, NM_001202517.3:c.516A>T, NM_001202517.2:c.516A>T, NM_001202517.1:c.516A>T, NM_001308042.3:c.804A>T, NM_001308042.2:c.804A>T, NM_001308042.1:c.804A>T, NM_001202519.3:c.516A>T, NM_001202519.2:c.516A>T, NM_001202519.1:c.516A>T, NM_001351594.2:c.516A>T, NM_001351594.1:c.516A>T, NM_001351593.2:c.516A>T, NM_001351593.1:c.516A>T, NM_001351590.2:c.804A>T, NM_001351590.1:c.804A>T, NR_147250.2:n.1176A>T, NR_147250.1:n.1236A>T, NM_001202518.2:c.516A>T, NM_001202518.1:c.516A>T, NR_147251.2:n.1259A>T, NR_147251.1:n.1319A>T, NR_147247.2:n.1259A>T, NR_147247.1:n.1319A>T, NR_147253.2:n.1127A>T, NR_147253.1:n.1352A>T, NR_147246.2:n.1120A>T, NR_147246.1:n.1180A>T, NR_147249.2:n.841A>T, NR_147249.1:n.901A>T, NR_147245.2:n.1259A>T, NR_147245.1:n.1319A>T, NR_147242.2:n.1112A>T, NR_147242.1:n.1172A>T, NR_147248.2:n.841A>T, NR_147248.1:n.901A>T, NM_001202515.1:c.69A>T, XR_001739013.3:n.1259A>T, XR_001739013.2:n.1257A>T, XR_001739013.1:n.1260A>T, XM_047446185.1:c.804A>T, XR_007083723.1:n.11620A>T, XM_047446191.1:c.516A>T, XR_007083713.1:n.1259A>T, XR_007083715.1:n.1127A>T, XR_007083702.1:n.1259A>T, XR_007083684.1:n.1127A>T, XR_007083735.1:n.1530A>T, XR_007083740.1:n.1398A>T

    2.

    rs1485086729 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:201133065 (GRCh38)
      2:201997788 (GRCh37)
      Canonical SPDI:
      NC_000002.12:201133064:A:G
      Gene:
      CFLAR (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.201133065A>G, NC_000002.11:g.201997788A>G, NG_029005.1:g.21912A>G, NM_003879.7:c.318A>G, NM_003879.6:c.318A>G, NM_003879.5:c.318A>G, NM_001127183.4:c.318A>G, NM_001127183.3:c.318A>G, NM_001127183.2:c.318A>G, NM_001127184.4:c.318A>G, NM_001127184.3:c.318A>G, NM_001127184.2:c.318A>G, NM_001202516.3:c.318A>G, NM_001202516.2:c.318A>G, NM_001202516.1:c.318A>G, NM_001202517.3:c.30A>G, NM_001202517.2:c.30A>G, NM_001202517.1:c.30A>G, NM_001308042.3:c.318A>G, NM_001308042.2:c.318A>G, NM_001308042.1:c.318A>G, NM_001202519.3:c.30A>G, NM_001202519.2:c.30A>G, NM_001202519.1:c.30A>G, NM_001351594.2:c.30A>G, NM_001351594.1:c.30A>G, NM_001351593.2:c.30A>G, NM_001351593.1:c.30A>G, NM_001351590.2:c.318A>G, NM_001351590.1:c.318A>G, NR_147250.2:n.773A>G, NR_147250.1:n.833A>G, NM_001202518.2:c.30A>G, NM_001202518.1:c.30A>G, NR_147251.2:n.773A>G, NR_147251.1:n.833A>G, NR_147247.2:n.773A>G, NR_147247.1:n.833A>G, NR_147253.2:n.641A>G, NR_147253.1:n.866A>G, NR_147246.2:n.634A>G, NR_147246.1:n.694A>G, NR_147244.2:n.773A>G, NR_147244.1:n.833A>G, NR_147243.2:n.773A>G, NR_147243.1:n.833A>G, NR_147249.2:n.355A>G, NR_147249.1:n.415A>G, NR_147245.2:n.773A>G, NR_147245.1:n.833A>G, NR_147242.2:n.355A>G, NR_147242.1:n.415A>G, NR_147248.2:n.355A>G, NR_147248.1:n.415A>G, NM_001308043.2:c.318A>G, NM_001308043.1:c.318A>G, NM_001351592.2:c.318A>G, NM_001351592.1:c.318A>G, NM_001351591.2:c.318A>G, NM_001351591.1:c.318A>G, NR_147241.2:n.355A>G, NR_147241.1:n.415A>G, NR_147255.2:n.223A>G, NR_147255.1:n.448A>G, XR_001739013.3:n.773A>G, XR_001739013.2:n.771A>G, XR_001739013.1:n.774A>G, XM_047446185.1:c.318A>G, XR_007083723.1:n.11134A>G, XR_007083755.1:n.11134A>G, XM_047446197.1:c.318A>G, XM_047446191.1:c.30A>G, XR_007083713.1:n.773A>G, XR_007083715.1:n.641A>G, XR_007083702.1:n.773A>G, XR_007083684.1:n.641A>G, XR_007083742.1:n.773A>G, XR_007083745.1:n.641A>G, XR_007083735.1:n.773A>G, XR_007083740.1:n.641A>G

      3.

      rs1484930267 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:201160831 (GRCh38)
        2:202025554 (GRCh37)
        Canonical SPDI:
        NC_000002.12:201160830:A:G
        Gene:
        CFLAR (Varview)
        Functional Consequence:
        coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000142/2 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.201160831A>G, NC_000002.11:g.202025554A>G, NG_029005.1:g.49678A>G, NM_003879.7:c.1193A>G, NM_003879.6:c.1193A>G, NM_003879.5:c.1193A>G, NM_001127183.4:c.1193A>G, NM_001127183.3:c.1193A>G, NM_001127183.2:c.1193A>G, NM_001202516.3:c.1088A>G, NM_001202516.2:c.1088A>G, NM_001202516.1:c.1088A>G, NM_001202517.3:c.905A>G, NM_001202517.2:c.905A>G, NM_001202517.1:c.905A>G, NM_001308042.3:c.1193A>G, NM_001308042.2:c.1193A>G, NM_001308042.1:c.1193A>G, NM_001202519.3:c.905A>G, NM_001202519.2:c.905A>G, NM_001202519.1:c.905A>G, NM_001351594.2:c.905A>G, NM_001351594.1:c.905A>G, NM_001351593.2:c.905A>G, NM_001351593.1:c.905A>G, NM_001351590.2:c.1193A>G, NM_001351590.1:c.1193A>G, NR_147250.2:n.1565A>G, NR_147250.1:n.1625A>G, NM_001202518.2:c.905A>G, NM_001202518.1:c.905A>G, NR_147251.2:n.1648A>G, NR_147251.1:n.1708A>G, NR_147247.2:n.1648A>G, NR_147247.1:n.1708A>G, NR_147253.2:n.1516A>G, NR_147253.1:n.1741A>G, NR_147246.2:n.1509A>G, NR_147246.1:n.1569A>G, NR_147244.2:n.1367A>G, NR_147244.1:n.1427A>G, NR_147243.2:n.1367A>G, NR_147243.1:n.1427A>G, NR_147249.2:n.1230A>G, NR_147249.1:n.1290A>G, NR_147245.2:n.1648A>G, NR_147245.1:n.1708A>G, NR_147242.2:n.1501A>G, NR_147242.1:n.1561A>G, NR_147248.2:n.1230A>G, NR_147248.1:n.1290A>G, NM_001202515.1:c.458A>G, XR_001739013.3:n.1648A>G, XR_001739013.2:n.1646A>G, XR_001739013.1:n.1649A>G, XM_047446185.1:c.1193A>G, XR_007083723.1:n.12009A>G, XM_047446191.1:c.905A>G, XR_007083713.1:n.1648A>G, XR_007083715.1:n.1516A>G, XR_007083702.1:n.1648A>G, XR_007083684.1:n.1516A>G, NP_003870.4:p.Glu398Gly, NP_001120655.1:p.Glu398Gly, NP_001189445.1:p.Glu363Gly, NP_001189446.1:p.Glu302Gly, NP_001294971.1:p.Glu398Gly, NP_001189448.1:p.Glu302Gly, NP_001338523.1:p.Glu302Gly, NP_001338522.1:p.Glu302Gly, NP_001338519.1:p.Glu398Gly, NP_001189447.1:p.Glu302Gly, NP_001189444.1:p.Glu153Gly, XP_047302141.1:p.Glu398Gly, XP_047302147.1:p.Glu302Gly

        4.

        rs1477429195 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:201130037 (GRCh38)
          2:201994760 (GRCh37)
          Canonical SPDI:
          NC_000002.12:201130036:C:T
          Gene:
          CFLAR (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000008/2 (TOPMED)
          C=0.5/1 (SGDP_PRJ)
          HGVS:
          NC_000002.12:g.201130037C>T, NC_000002.11:g.201994760C>T, NG_029005.1:g.18884C>T, NM_003879.7:c.172C>T, NM_003879.6:c.172C>T, NM_003879.5:c.172C>T, NM_001127183.4:c.172C>T, NM_001127183.3:c.172C>T, NM_001127183.2:c.172C>T, NM_001127184.4:c.172C>T, NM_001127184.3:c.172C>T, NM_001127184.2:c.172C>T, NM_001202516.3:c.172C>T, NM_001202516.2:c.172C>T, NM_001202516.1:c.172C>T, NM_001308042.3:c.172C>T, NM_001308042.2:c.172C>T, NM_001308042.1:c.172C>T, NM_001351590.2:c.172C>T, NM_001351590.1:c.172C>T, NR_147250.2:n.627C>T, NR_147250.1:n.687C>T, NR_147251.2:n.627C>T, NR_147251.1:n.687C>T, NR_147247.2:n.627C>T, NR_147247.1:n.687C>T, NR_147253.2:n.495C>T, NR_147253.1:n.720C>T, NR_147244.2:n.627C>T, NR_147244.1:n.687C>T, NR_147243.2:n.627C>T, NR_147243.1:n.687C>T, NR_147245.2:n.627C>T, NR_147245.1:n.687C>T, NM_001308043.2:c.172C>T, NM_001308043.1:c.172C>T, NM_001351592.2:c.172C>T, NM_001351592.1:c.172C>T, NM_001351591.2:c.172C>T, NM_001351591.1:c.172C>T, XR_001739013.3:n.627C>T, XR_001739013.2:n.625C>T, XR_001739013.1:n.628C>T, XM_047446185.1:c.172C>T, XR_007083723.1:n.10988C>T, XR_007083755.1:n.10988C>T, XM_047446197.1:c.172C>T, XR_007083713.1:n.627C>T, XR_007083715.1:n.495C>T, XR_007083702.1:n.627C>T, XR_007083684.1:n.495C>T, XR_007083742.1:n.627C>T, XR_007083745.1:n.495C>T, XR_007083735.1:n.627C>T, XR_007083740.1:n.495C>T

          5.

          rs1474796208 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            2:201136061 (GRCh38)
            2:202000784 (GRCh37)
            Canonical SPDI:
            NC_000002.12:201136060:C:G
            Gene:
            CFLAR (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000224/1 (ALFA)
            G=0.000007/1 (GnomAD)
            G=0.000223/1 (Estonian)
            HGVS:
            NC_000002.12:g.201136061C>G, NC_000002.11:g.202000784C>G, NG_029005.1:g.24908C>G, NM_003879.7:c.477C>G, NM_003879.6:c.477C>G, NM_003879.5:c.477C>G, NM_001127183.4:c.477C>G, NM_001127183.3:c.477C>G, NM_001127183.2:c.477C>G, NM_001127184.4:c.477C>G, NM_001127184.3:c.477C>G, NM_001127184.2:c.477C>G, NM_001202516.3:c.477C>G, NM_001202516.2:c.477C>G, NM_001202516.1:c.477C>G, NM_001202517.3:c.189C>G, NM_001202517.2:c.189C>G, NM_001202517.1:c.189C>G, NM_001308042.3:c.477C>G, NM_001308042.2:c.477C>G, NM_001308042.1:c.477C>G, NM_001202519.3:c.189C>G, NM_001202519.2:c.189C>G, NM_001202519.1:c.189C>G, NM_001351594.2:c.189C>G, NM_001351594.1:c.189C>G, NM_001351593.2:c.189C>G, NM_001351593.1:c.189C>G, NM_001351590.2:c.477C>G, NM_001351590.1:c.477C>G, NR_147250.2:n.932C>G, NR_147250.1:n.992C>G, NM_001202518.2:c.189C>G, NM_001202518.1:c.189C>G, NR_147251.2:n.932C>G, NR_147251.1:n.992C>G, NR_147247.2:n.932C>G, NR_147247.1:n.992C>G, NR_147253.2:n.800C>G, NR_147253.1:n.1025C>G, NR_147246.2:n.793C>G, NR_147246.1:n.853C>G, NR_147244.2:n.932C>G, NR_147244.1:n.992C>G, NR_147243.2:n.932C>G, NR_147243.1:n.992C>G, NR_147249.2:n.514C>G, NR_147249.1:n.574C>G, NR_147245.2:n.932C>G, NR_147245.1:n.992C>G, NR_147242.2:n.514C>G, NR_147242.1:n.574C>G, NR_147248.2:n.514C>G, NR_147248.1:n.574C>G, NM_001308043.2:c.477C>G, NM_001308043.1:c.477C>G, NM_001351592.2:c.477C>G, NM_001351592.1:c.477C>G, NM_001351591.2:c.477C>G, NM_001351591.1:c.477C>G, NR_147241.2:n.514C>G, NR_147241.1:n.574C>G, NR_147255.2:n.382C>G, NR_147255.1:n.607C>G, XR_001739013.3:n.932C>G, XR_001739013.2:n.930C>G, XR_001739013.1:n.933C>G, XM_047446185.1:c.477C>G, XR_007083723.1:n.11293C>G, XR_007083755.1:n.11293C>G, XM_047446197.1:c.477C>G, XM_047446191.1:c.189C>G, XR_007083713.1:n.932C>G, XR_007083715.1:n.800C>G, XR_007083702.1:n.932C>G, XR_007083684.1:n.800C>G, XR_007083742.1:n.932C>G, XR_007083745.1:n.800C>G, XR_007083735.1:n.932C>G, XR_007083740.1:n.800C>G, NP_003870.4:p.Ile159Met, NP_001120655.1:p.Ile159Met, NP_001120656.1:p.Ile159Met, NP_001189445.1:p.Ile159Met, NP_001189446.1:p.Ile63Met, NP_001294971.1:p.Ile159Met, NP_001189448.1:p.Ile63Met, NP_001338523.1:p.Ile63Met, NP_001338522.1:p.Ile63Met, NP_001338519.1:p.Ile159Met, NP_001189447.1:p.Ile63Met, NP_001294972.1:p.Ile159Met, NP_001338521.1:p.Ile159Met, NP_001338520.1:p.Ile159Met, XP_047302141.1:p.Ile159Met, XP_047302153.1:p.Ile159Met, XP_047302147.1:p.Ile63Met

            6.

            rs1471409411 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:201160875 (GRCh38)
              2:202025598 (GRCh37)
              Canonical SPDI:
              NC_000002.12:201160874:C:G
              Gene:
              CFLAR (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000002.12:g.201160875C>G, NC_000002.11:g.202025598C>G, NG_029005.1:g.49722C>G, NM_003879.7:c.1237C>G, NM_003879.6:c.1237C>G, NM_003879.5:c.1237C>G, NM_001127183.4:c.1237C>G, NM_001127183.3:c.1237C>G, NM_001127183.2:c.1237C>G, NM_001202516.3:c.1132C>G, NM_001202516.2:c.1132C>G, NM_001202516.1:c.1132C>G, NM_001202517.3:c.949C>G, NM_001202517.2:c.949C>G, NM_001202517.1:c.949C>G, NM_001308042.3:c.1237C>G, NM_001308042.2:c.1237C>G, NM_001308042.1:c.1237C>G, NM_001202519.3:c.949C>G, NM_001202519.2:c.949C>G, NM_001202519.1:c.949C>G, NM_001351594.2:c.949C>G, NM_001351594.1:c.949C>G, NM_001351593.2:c.949C>G, NM_001351593.1:c.949C>G, NM_001351590.2:c.1237C>G, NM_001351590.1:c.1237C>G, NR_147250.2:n.1609C>G, NR_147250.1:n.1669C>G, NM_001202518.2:c.949C>G, NM_001202518.1:c.949C>G, NR_147251.2:n.1692C>G, NR_147251.1:n.1752C>G, NR_147247.2:n.1692C>G, NR_147247.1:n.1752C>G, NR_147253.2:n.1560C>G, NR_147253.1:n.1785C>G, NR_147246.2:n.1553C>G, NR_147246.1:n.1613C>G, NR_147244.2:n.1411C>G, NR_147244.1:n.1471C>G, NR_147243.2:n.1411C>G, NR_147243.1:n.1471C>G, NR_147249.2:n.1274C>G, NR_147249.1:n.1334C>G, NR_147245.2:n.1692C>G, NR_147245.1:n.1752C>G, NR_147242.2:n.1545C>G, NR_147242.1:n.1605C>G, NR_147248.2:n.1274C>G, NR_147248.1:n.1334C>G, NM_001202515.1:c.502C>G, XR_001739013.3:n.1692C>G, XR_001739013.2:n.1690C>G, XR_001739013.1:n.1693C>G, XM_047446185.1:c.1237C>G, XR_007083723.1:n.12053C>G, XM_047446191.1:c.949C>G, XR_007083713.1:n.1692C>G, XR_007083715.1:n.1560C>G, XR_007083702.1:n.1692C>G, XR_007083684.1:n.1560C>G, NP_003870.4:p.Leu413Val, NP_001120655.1:p.Leu413Val, NP_001189445.1:p.Leu378Val, NP_001189446.1:p.Leu317Val, NP_001294971.1:p.Leu413Val, NP_001189448.1:p.Leu317Val, NP_001338523.1:p.Leu317Val, NP_001338522.1:p.Leu317Val, NP_001338519.1:p.Leu413Val, NP_001189447.1:p.Leu317Val, NP_001189444.1:p.Leu168Val, XP_047302141.1:p.Leu413Val, XP_047302147.1:p.Leu317Val

              7.

              rs1469214853 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                2:201160604 (GRCh38)
                2:202025327 (GRCh37)
                Canonical SPDI:
                NC_000002.12:201160603:T:A,NC_000002.12:201160603:T:C
                Gene:
                CFLAR (Varview)
                Functional Consequence:
                stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,synonymous_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000002.12:g.201160604T>A, NC_000002.12:g.201160604T>C, NC_000002.11:g.202025327T>A, NC_000002.11:g.202025327T>C, NG_029005.1:g.49451T>A, NG_029005.1:g.49451T>C, NM_003879.7:c.966T>A, NM_003879.7:c.966T>C, NM_003879.6:c.966T>A, NM_003879.6:c.966T>C, NM_003879.5:c.966T>A, NM_003879.5:c.966T>C, NM_001127183.4:c.966T>A, NM_001127183.4:c.966T>C, NM_001127183.3:c.966T>A, NM_001127183.3:c.966T>C, NM_001127183.2:c.966T>A, NM_001127183.2:c.966T>C, NM_001202516.3:c.861T>A, NM_001202516.3:c.861T>C, NM_001202516.2:c.861T>A, NM_001202516.2:c.861T>C, NM_001202516.1:c.861T>A, NM_001202516.1:c.861T>C, NM_001202517.3:c.678T>A, NM_001202517.3:c.678T>C, NM_001202517.2:c.678T>A, NM_001202517.2:c.678T>C, NM_001202517.1:c.678T>A, NM_001202517.1:c.678T>C, NM_001308042.3:c.966T>A, NM_001308042.3:c.966T>C, NM_001308042.2:c.966T>A, NM_001308042.2:c.966T>C, NM_001308042.1:c.966T>A, NM_001308042.1:c.966T>C, NM_001202519.3:c.678T>A, NM_001202519.3:c.678T>C, NM_001202519.2:c.678T>A, NM_001202519.2:c.678T>C, NM_001202519.1:c.678T>A, NM_001202519.1:c.678T>C, NM_001351594.2:c.678T>A, NM_001351594.2:c.678T>C, NM_001351594.1:c.678T>A, NM_001351594.1:c.678T>C, NM_001351593.2:c.678T>A, NM_001351593.2:c.678T>C, NM_001351593.1:c.678T>A, NM_001351593.1:c.678T>C, NM_001351590.2:c.966T>A, NM_001351590.2:c.966T>C, NM_001351590.1:c.966T>A, NM_001351590.1:c.966T>C, NR_147250.2:n.1338T>A, NR_147250.2:n.1338T>C, NR_147250.1:n.1398T>A, NR_147250.1:n.1398T>C, NM_001202518.2:c.678T>A, NM_001202518.2:c.678T>C, NM_001202518.1:c.678T>A, NM_001202518.1:c.678T>C, NR_147251.2:n.1421T>A, NR_147251.2:n.1421T>C, NR_147251.1:n.1481T>A, NR_147251.1:n.1481T>C, NR_147247.2:n.1421T>A, NR_147247.2:n.1421T>C, NR_147247.1:n.1481T>A, NR_147247.1:n.1481T>C, NR_147253.2:n.1289T>A, NR_147253.2:n.1289T>C, NR_147253.1:n.1514T>A, NR_147253.1:n.1514T>C, NR_147246.2:n.1282T>A, NR_147246.2:n.1282T>C, NR_147246.1:n.1342T>A, NR_147246.1:n.1342T>C, NR_147249.2:n.1003T>A, NR_147249.2:n.1003T>C, NR_147249.1:n.1063T>A, NR_147249.1:n.1063T>C, NR_147245.2:n.1421T>A, NR_147245.2:n.1421T>C, NR_147245.1:n.1481T>A, NR_147245.1:n.1481T>C, NR_147242.2:n.1274T>A, NR_147242.2:n.1274T>C, NR_147242.1:n.1334T>A, NR_147242.1:n.1334T>C, NR_147248.2:n.1003T>A, NR_147248.2:n.1003T>C, NR_147248.1:n.1063T>A, NR_147248.1:n.1063T>C, NM_001202515.1:c.231T>A, NM_001202515.1:c.231T>C, XR_001739013.3:n.1421T>A, XR_001739013.3:n.1421T>C, XR_001739013.2:n.1419T>A, XR_001739013.2:n.1419T>C, XR_001739013.1:n.1422T>A, XR_001739013.1:n.1422T>C, XM_047446185.1:c.966T>A, XM_047446185.1:c.966T>C, XR_007083723.1:n.11782T>A, XR_007083723.1:n.11782T>C, XM_047446191.1:c.678T>A, XM_047446191.1:c.678T>C, XR_007083713.1:n.1421T>A, XR_007083713.1:n.1421T>C, XR_007083715.1:n.1289T>A, XR_007083715.1:n.1289T>C, XR_007083702.1:n.1421T>A, XR_007083702.1:n.1421T>C, XR_007083684.1:n.1289T>A, XR_007083684.1:n.1289T>C, NP_003870.4:p.Tyr322Ter, NP_001120655.1:p.Tyr322Ter, NP_001189445.1:p.Tyr287Ter, NP_001189446.1:p.Tyr226Ter, NP_001294971.1:p.Tyr322Ter, NP_001189448.1:p.Tyr226Ter, NP_001338523.1:p.Tyr226Ter, NP_001338522.1:p.Tyr226Ter, NP_001338519.1:p.Tyr322Ter, NP_001189447.1:p.Tyr226Ter, NP_001189444.1:p.Tyr77Ter, XP_047302141.1:p.Tyr322Ter, XP_047302147.1:p.Tyr226Ter

                8.

                rs1468217713 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:201136069 (GRCh38)
                  2:202000792 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:201136068:T:C
                  Gene:
                  CFLAR (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.201136069T>C, NC_000002.11:g.202000792T>C, NG_029005.1:g.24916T>C, NM_003879.7:c.485T>C, NM_003879.6:c.485T>C, NM_003879.5:c.485T>C, NM_001127183.4:c.485T>C, NM_001127183.3:c.485T>C, NM_001127183.2:c.485T>C, NM_001127184.4:c.485T>C, NM_001127184.3:c.485T>C, NM_001127184.2:c.485T>C, NM_001202516.3:c.485T>C, NM_001202516.2:c.485T>C, NM_001202516.1:c.485T>C, NM_001202517.3:c.197T>C, NM_001202517.2:c.197T>C, NM_001202517.1:c.197T>C, NM_001308042.3:c.485T>C, NM_001308042.2:c.485T>C, NM_001308042.1:c.485T>C, NM_001202519.3:c.197T>C, NM_001202519.2:c.197T>C, NM_001202519.1:c.197T>C, NM_001351594.2:c.197T>C, NM_001351594.1:c.197T>C, NM_001351593.2:c.197T>C, NM_001351593.1:c.197T>C, NM_001351590.2:c.485T>C, NM_001351590.1:c.485T>C, NR_147250.2:n.940T>C, NR_147250.1:n.1000T>C, NM_001202518.2:c.197T>C, NM_001202518.1:c.197T>C, NR_147251.2:n.940T>C, NR_147251.1:n.1000T>C, NR_147247.2:n.940T>C, NR_147247.1:n.1000T>C, NR_147253.2:n.808T>C, NR_147253.1:n.1033T>C, NR_147246.2:n.801T>C, NR_147246.1:n.861T>C, NR_147244.2:n.940T>C, NR_147244.1:n.1000T>C, NR_147243.2:n.940T>C, NR_147243.1:n.1000T>C, NR_147249.2:n.522T>C, NR_147249.1:n.582T>C, NR_147245.2:n.940T>C, NR_147245.1:n.1000T>C, NR_147242.2:n.522T>C, NR_147242.1:n.582T>C, NR_147248.2:n.522T>C, NR_147248.1:n.582T>C, NM_001308043.2:c.485T>C, NM_001308043.1:c.485T>C, NM_001351592.2:c.485T>C, NM_001351592.1:c.485T>C, NM_001351591.2:c.485T>C, NM_001351591.1:c.485T>C, NR_147241.2:n.522T>C, NR_147241.1:n.582T>C, NR_147255.2:n.390T>C, NR_147255.1:n.615T>C, XR_001739013.3:n.940T>C, XR_001739013.2:n.938T>C, XR_001739013.1:n.941T>C, XM_047446185.1:c.485T>C, XR_007083723.1:n.11301T>C, XR_007083755.1:n.11301T>C, XM_047446197.1:c.485T>C, XM_047446191.1:c.197T>C, XR_007083713.1:n.940T>C, XR_007083715.1:n.808T>C, XR_007083702.1:n.940T>C, XR_007083684.1:n.808T>C, XR_007083742.1:n.940T>C, XR_007083745.1:n.808T>C, XR_007083735.1:n.940T>C, XR_007083740.1:n.808T>C, NP_003870.4:p.Ile162Thr, NP_001120655.1:p.Ile162Thr, NP_001120656.1:p.Ile162Thr, NP_001189445.1:p.Ile162Thr, NP_001189446.1:p.Ile66Thr, NP_001294971.1:p.Ile162Thr, NP_001189448.1:p.Ile66Thr, NP_001338523.1:p.Ile66Thr, NP_001338522.1:p.Ile66Thr, NP_001338519.1:p.Ile162Thr, NP_001189447.1:p.Ile66Thr, NP_001294972.1:p.Ile162Thr, NP_001338521.1:p.Ile162Thr, NP_001338520.1:p.Ile162Thr, XP_047302141.1:p.Ile162Thr, XP_047302153.1:p.Ile162Thr, XP_047302147.1:p.Ile66Thr

                  9.

                  rs1466709997 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:201149792 (GRCh38)
                    2:202014515 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:201149791:C:T
                    Gene:
                    CFLAR (Varview), CFLAR-AS1 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000002.12:g.201149792C>T, NC_000002.11:g.202014515C>T, NG_029005.1:g.38639C>T, NM_003879.7:c.750C>T, NM_003879.6:c.750C>T, NM_003879.5:c.750C>T, NM_001127183.4:c.750C>T, NM_001127183.3:c.750C>T, NM_001127183.2:c.750C>T, NM_001202516.3:c.645C>T, NM_001202516.2:c.645C>T, NM_001202516.1:c.645C>T, NM_001202517.3:c.462C>T, NM_001202517.2:c.462C>T, NM_001202517.1:c.462C>T, NM_001308042.3:c.750C>T, NM_001308042.2:c.750C>T, NM_001308042.1:c.750C>T, NM_001202519.3:c.462C>T, NM_001202519.2:c.462C>T, NM_001202519.1:c.462C>T, NM_001351594.2:c.462C>T, NM_001351594.1:c.462C>T, NM_001351593.2:c.462C>T, NM_001351593.1:c.462C>T, NM_001351590.2:c.750C>T, NM_001351590.1:c.750C>T, NR_147250.2:n.1122C>T, NR_147250.1:n.1182C>T, NM_001202518.2:c.462C>T, NM_001202518.1:c.462C>T, NR_147251.2:n.1205C>T, NR_147251.1:n.1265C>T, NR_147247.2:n.1205C>T, NR_147247.1:n.1265C>T, NR_147253.2:n.1073C>T, NR_147253.1:n.1298C>T, NR_147246.2:n.1066C>T, NR_147246.1:n.1126C>T, NR_147244.2:n.1205C>T, NR_147244.1:n.1265C>T, NR_147243.2:n.1205C>T, NR_147243.1:n.1265C>T, NR_147249.2:n.787C>T, NR_147249.1:n.847C>T, NR_147245.2:n.1205C>T, NR_147245.1:n.1265C>T, NR_147242.2:n.787C>T, NR_147242.1:n.847C>T, NR_147248.2:n.787C>T, NR_147248.1:n.847C>T, NM_001202515.1:c.15C>T, XR_001739013.3:n.1205C>T, XR_001739013.2:n.1203C>T, XR_001739013.1:n.1206C>T, XM_047446185.1:c.750C>T, XR_007083723.1:n.11566C>T, XM_047446191.1:c.462C>T, XR_007083713.1:n.1205C>T, XR_007083715.1:n.1073C>T, XR_007083702.1:n.1205C>T, XR_007083684.1:n.1073C>T, XR_007083735.1:n.1205C>T, XR_007083740.1:n.1073C>T

                    10.

                    rs1465004748 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:201160540 (GRCh38)
                      2:202025263 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:201160539:A:G
                      Gene:
                      CFLAR (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.201160540A>G, NC_000002.11:g.202025263A>G, NG_029005.1:g.49387A>G, NM_003879.7:c.902A>G, NM_003879.6:c.902A>G, NM_003879.5:c.902A>G, NM_001127183.4:c.902A>G, NM_001127183.3:c.902A>G, NM_001127183.2:c.902A>G, NM_001202516.3:c.797A>G, NM_001202516.2:c.797A>G, NM_001202516.1:c.797A>G, NM_001202517.3:c.614A>G, NM_001202517.2:c.614A>G, NM_001202517.1:c.614A>G, NM_001308042.3:c.902A>G, NM_001308042.2:c.902A>G, NM_001308042.1:c.902A>G, NM_001202519.3:c.614A>G, NM_001202519.2:c.614A>G, NM_001202519.1:c.614A>G, NM_001351594.2:c.614A>G, NM_001351594.1:c.614A>G, NM_001351593.2:c.614A>G, NM_001351593.1:c.614A>G, NM_001351590.2:c.902A>G, NM_001351590.1:c.902A>G, NR_147250.2:n.1274A>G, NR_147250.1:n.1334A>G, NM_001202518.2:c.614A>G, NM_001202518.1:c.614A>G, NR_147251.2:n.1357A>G, NR_147251.1:n.1417A>G, NR_147247.2:n.1357A>G, NR_147247.1:n.1417A>G, NR_147253.2:n.1225A>G, NR_147253.1:n.1450A>G, NR_147246.2:n.1218A>G, NR_147246.1:n.1278A>G, NR_147249.2:n.939A>G, NR_147249.1:n.999A>G, NR_147245.2:n.1357A>G, NR_147245.1:n.1417A>G, NR_147242.2:n.1210A>G, NR_147242.1:n.1270A>G, NR_147248.2:n.939A>G, NR_147248.1:n.999A>G, NM_001202515.1:c.167A>G, XR_001739013.3:n.1357A>G, XR_001739013.2:n.1355A>G, XR_001739013.1:n.1358A>G, XM_047446185.1:c.902A>G, XR_007083723.1:n.11718A>G, XM_047446191.1:c.614A>G, XR_007083713.1:n.1357A>G, XR_007083715.1:n.1225A>G, XR_007083702.1:n.1357A>G, XR_007083684.1:n.1225A>G, NP_003870.4:p.Glu301Gly, NP_001120655.1:p.Glu301Gly, NP_001189445.1:p.Glu266Gly, NP_001189446.1:p.Glu205Gly, NP_001294971.1:p.Glu301Gly, NP_001189448.1:p.Glu205Gly, NP_001338523.1:p.Glu205Gly, NP_001338522.1:p.Glu205Gly, NP_001338519.1:p.Glu301Gly, NP_001189447.1:p.Glu205Gly, NP_001189444.1:p.Glu56Gly, XP_047302141.1:p.Glu301Gly, XP_047302147.1:p.Glu205Gly

                      11.

                      rs1463886724 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:201160537 (GRCh38)
                        2:202025260 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:201160536:C:T
                        Gene:
                        CFLAR (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.201160537C>T, NC_000002.11:g.202025260C>T, NG_029005.1:g.49384C>T, NM_003879.7:c.899C>T, NM_003879.6:c.899C>T, NM_003879.5:c.899C>T, NM_001127183.4:c.899C>T, NM_001127183.3:c.899C>T, NM_001127183.2:c.899C>T, NM_001202516.3:c.794C>T, NM_001202516.2:c.794C>T, NM_001202516.1:c.794C>T, NM_001202517.3:c.611C>T, NM_001202517.2:c.611C>T, NM_001202517.1:c.611C>T, NM_001308042.3:c.899C>T, NM_001308042.2:c.899C>T, NM_001308042.1:c.899C>T, NM_001202519.3:c.611C>T, NM_001202519.2:c.611C>T, NM_001202519.1:c.611C>T, NM_001351594.2:c.611C>T, NM_001351594.1:c.611C>T, NM_001351593.2:c.611C>T, NM_001351593.1:c.611C>T, NM_001351590.2:c.899C>T, NM_001351590.1:c.899C>T, NR_147250.2:n.1271C>T, NR_147250.1:n.1331C>T, NM_001202518.2:c.611C>T, NM_001202518.1:c.611C>T, NR_147251.2:n.1354C>T, NR_147251.1:n.1414C>T, NR_147247.2:n.1354C>T, NR_147247.1:n.1414C>T, NR_147253.2:n.1222C>T, NR_147253.1:n.1447C>T, NR_147246.2:n.1215C>T, NR_147246.1:n.1275C>T, NR_147249.2:n.936C>T, NR_147249.1:n.996C>T, NR_147245.2:n.1354C>T, NR_147245.1:n.1414C>T, NR_147242.2:n.1207C>T, NR_147242.1:n.1267C>T, NR_147248.2:n.936C>T, NR_147248.1:n.996C>T, NM_001202515.1:c.164C>T, XR_001739013.3:n.1354C>T, XR_001739013.2:n.1352C>T, XR_001739013.1:n.1355C>T, XM_047446185.1:c.899C>T, XR_007083723.1:n.11715C>T, XM_047446191.1:c.611C>T, XR_007083713.1:n.1354C>T, XR_007083715.1:n.1222C>T, XR_007083702.1:n.1354C>T, XR_007083684.1:n.1222C>T, XR_007083735.1:n.1625C>T, XR_007083740.1:n.1493C>T, NP_003870.4:p.Pro300Leu, NP_001120655.1:p.Pro300Leu, NP_001189445.1:p.Pro265Leu, NP_001189446.1:p.Pro204Leu, NP_001294971.1:p.Pro300Leu, NP_001189448.1:p.Pro204Leu, NP_001338523.1:p.Pro204Leu, NP_001338522.1:p.Pro204Leu, NP_001338519.1:p.Pro300Leu, NP_001189447.1:p.Pro204Leu, NP_001189444.1:p.Pro55Leu, XP_047302141.1:p.Pro300Leu, XP_047302147.1:p.Pro204Leu

                        12.

                        rs1463100063 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          2:201160547 (GRCh38)
                          2:202025270 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:201160546:A:C
                          Gene:
                          CFLAR (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_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_000002.12:g.201160547A>C, NC_000002.11:g.202025270A>C, NG_029005.1:g.49394A>C, NM_003879.7:c.909A>C, NM_003879.6:c.909A>C, NM_003879.5:c.909A>C, NM_001127183.4:c.909A>C, NM_001127183.3:c.909A>C, NM_001127183.2:c.909A>C, NM_001202516.3:c.804A>C, NM_001202516.2:c.804A>C, NM_001202516.1:c.804A>C, NM_001202517.3:c.621A>C, NM_001202517.2:c.621A>C, NM_001202517.1:c.621A>C, NM_001308042.3:c.909A>C, NM_001308042.2:c.909A>C, NM_001308042.1:c.909A>C, NM_001202519.3:c.621A>C, NM_001202519.2:c.621A>C, NM_001202519.1:c.621A>C, NM_001351594.2:c.621A>C, NM_001351594.1:c.621A>C, NM_001351593.2:c.621A>C, NM_001351593.1:c.621A>C, NM_001351590.2:c.909A>C, NM_001351590.1:c.909A>C, NR_147250.2:n.1281A>C, NR_147250.1:n.1341A>C, NM_001202518.2:c.621A>C, NM_001202518.1:c.621A>C, NR_147251.2:n.1364A>C, NR_147251.1:n.1424A>C, NR_147247.2:n.1364A>C, NR_147247.1:n.1424A>C, NR_147253.2:n.1232A>C, NR_147253.1:n.1457A>C, NR_147246.2:n.1225A>C, NR_147246.1:n.1285A>C, NR_147249.2:n.946A>C, NR_147249.1:n.1006A>C, NR_147245.2:n.1364A>C, NR_147245.1:n.1424A>C, NR_147242.2:n.1217A>C, NR_147242.1:n.1277A>C, NR_147248.2:n.946A>C, NR_147248.1:n.1006A>C, NM_001202515.1:c.174A>C, XR_001739013.3:n.1364A>C, XR_001739013.2:n.1362A>C, XR_001739013.1:n.1365A>C, XM_047446185.1:c.909A>C, XR_007083723.1:n.11725A>C, XM_047446191.1:c.621A>C, XR_007083713.1:n.1364A>C, XR_007083715.1:n.1232A>C, XR_007083702.1:n.1364A>C, XR_007083684.1:n.1232A>C

                          13.

                          rs1457230683 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            2:201129970 (GRCh38)
                            2:201994693 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:201129969:T:G
                            Gene:
                            CFLAR (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000051/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000004/1 (TOPMED)
                            G=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000002.12:g.201129970T>G, NC_000002.11:g.201994693T>G, NG_029005.1:g.18817T>G, NM_003879.7:c.105T>G, NM_003879.6:c.105T>G, NM_003879.5:c.105T>G, NM_001127183.4:c.105T>G, NM_001127183.3:c.105T>G, NM_001127183.2:c.105T>G, NM_001127184.4:c.105T>G, NM_001127184.3:c.105T>G, NM_001127184.2:c.105T>G, NM_001202516.3:c.105T>G, NM_001202516.2:c.105T>G, NM_001202516.1:c.105T>G, NM_001308042.3:c.105T>G, NM_001308042.2:c.105T>G, NM_001308042.1:c.105T>G, NM_001351594.2:c.-45T>G, NM_001351594.1:c.-45T>G, NM_001351590.2:c.105T>G, NM_001351590.1:c.105T>G, NR_147250.2:n.560T>G, NR_147250.1:n.620T>G, NR_147251.2:n.560T>G, NR_147251.1:n.620T>G, NR_147247.2:n.560T>G, NR_147247.1:n.620T>G, NR_147253.2:n.428T>G, NR_147253.1:n.653T>G, NR_147246.2:n.560T>G, NR_147246.1:n.620T>G, NR_147244.2:n.560T>G, NR_147244.1:n.620T>G, NR_147243.2:n.560T>G, NR_147243.1:n.620T>G, NR_147245.2:n.560T>G, NR_147245.1:n.620T>G, NM_001308043.2:c.105T>G, NM_001308043.1:c.105T>G, NM_001351592.2:c.105T>G, NM_001351592.1:c.105T>G, NM_001351591.2:c.105T>G, NM_001351591.1:c.105T>G, XR_001739013.3:n.560T>G, XR_001739013.2:n.558T>G, XR_001739013.1:n.561T>G, XM_047446185.1:c.105T>G, XR_007083723.1:n.10921T>G, XR_007083755.1:n.10921T>G, XM_047446197.1:c.105T>G, XR_007083713.1:n.560T>G, XR_007083715.1:n.428T>G, XR_007083702.1:n.560T>G, XR_007083684.1:n.428T>G, XR_007083742.1:n.560T>G, XR_007083745.1:n.428T>G, XR_007083735.1:n.560T>G, XR_007083740.1:n.428T>G

                            14.

                            rs1455516211 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:201160565 (GRCh38)
                              2:202025288 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:201160564:G:A
                              Gene:
                              CFLAR (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.201160565G>A, NC_000002.11:g.202025288G>A, NG_029005.1:g.49412G>A, NM_003879.7:c.927G>A, NM_003879.6:c.927G>A, NM_003879.5:c.927G>A, NM_001127183.4:c.927G>A, NM_001127183.3:c.927G>A, NM_001127183.2:c.927G>A, NM_001202516.3:c.822G>A, NM_001202516.2:c.822G>A, NM_001202516.1:c.822G>A, NM_001202517.3:c.639G>A, NM_001202517.2:c.639G>A, NM_001202517.1:c.639G>A, NM_001308042.3:c.927G>A, NM_001308042.2:c.927G>A, NM_001308042.1:c.927G>A, NM_001202519.3:c.639G>A, NM_001202519.2:c.639G>A, NM_001202519.1:c.639G>A, NM_001351594.2:c.639G>A, NM_001351594.1:c.639G>A, NM_001351593.2:c.639G>A, NM_001351593.1:c.639G>A, NM_001351590.2:c.927G>A, NM_001351590.1:c.927G>A, NR_147250.2:n.1299G>A, NR_147250.1:n.1359G>A, NM_001202518.2:c.639G>A, NM_001202518.1:c.639G>A, NR_147251.2:n.1382G>A, NR_147251.1:n.1442G>A, NR_147247.2:n.1382G>A, NR_147247.1:n.1442G>A, NR_147253.2:n.1250G>A, NR_147253.1:n.1475G>A, NR_147246.2:n.1243G>A, NR_147246.1:n.1303G>A, NR_147249.2:n.964G>A, NR_147249.1:n.1024G>A, NR_147245.2:n.1382G>A, NR_147245.1:n.1442G>A, NR_147242.2:n.1235G>A, NR_147242.1:n.1295G>A, NR_147248.2:n.964G>A, NR_147248.1:n.1024G>A, NM_001202515.1:c.192G>A, XR_001739013.3:n.1382G>A, XR_001739013.2:n.1380G>A, XR_001739013.1:n.1383G>A, XM_047446185.1:c.927G>A, XR_007083723.1:n.11743G>A, XM_047446191.1:c.639G>A, XR_007083713.1:n.1382G>A, XR_007083715.1:n.1250G>A, XR_007083702.1:n.1382G>A, XR_007083684.1:n.1250G>A

                              15.

                              rs1454977995 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:201129890 (GRCh38)
                                2:201994613 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:201129889:G:C
                                Gene:
                                CFLAR (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.201129890G>C, NC_000002.11:g.201994613G>C, NG_029005.1:g.18737G>C, NM_003879.7:c.25G>C, NM_003879.6:c.25G>C, NM_003879.5:c.25G>C, NM_001127183.4:c.25G>C, NM_001127183.3:c.25G>C, NM_001127183.2:c.25G>C, NM_001127184.4:c.25G>C, NM_001127184.3:c.25G>C, NM_001127184.2:c.25G>C, NM_001202516.3:c.25G>C, NM_001202516.2:c.25G>C, NM_001202516.1:c.25G>C, NM_001308042.3:c.25G>C, NM_001308042.2:c.25G>C, NM_001308042.1:c.25G>C, NM_001351594.2:c.-125G>C, NM_001351594.1:c.-125G>C, NM_001351590.2:c.25G>C, NM_001351590.1:c.25G>C, NR_147250.2:n.480G>C, NR_147250.1:n.540G>C, NR_147251.2:n.480G>C, NR_147251.1:n.540G>C, NR_147247.2:n.480G>C, NR_147247.1:n.540G>C, NR_147253.2:n.348G>C, NR_147253.1:n.573G>C, NR_147246.2:n.480G>C, NR_147246.1:n.540G>C, NR_147244.2:n.480G>C, NR_147244.1:n.540G>C, NR_147243.2:n.480G>C, NR_147243.1:n.540G>C, NR_147245.2:n.480G>C, NR_147245.1:n.540G>C, NM_001308043.2:c.25G>C, NM_001308043.1:c.25G>C, NM_001351592.2:c.25G>C, NM_001351592.1:c.25G>C, NM_001351591.2:c.25G>C, NM_001351591.1:c.25G>C, XR_001739013.3:n.480G>C, XR_001739013.2:n.478G>C, XR_001739013.1:n.481G>C, XM_047446185.1:c.25G>C, XR_007083723.1:n.10841G>C, XR_007083755.1:n.10841G>C, XM_047446197.1:c.25G>C, XR_007083713.1:n.480G>C, XR_007083715.1:n.348G>C, XR_007083702.1:n.480G>C, XR_007083684.1:n.348G>C, XR_007083742.1:n.480G>C, XR_007083745.1:n.348G>C, XR_007083735.1:n.480G>C, XR_007083740.1:n.348G>C, NP_003870.4:p.Val9Leu, NP_001120655.1:p.Val9Leu, NP_001120656.1:p.Val9Leu, NP_001189445.1:p.Val9Leu, NP_001294971.1:p.Val9Leu, NP_001338519.1:p.Val9Leu, NP_001294972.1:p.Val9Leu, NP_001338521.1:p.Val9Leu, NP_001338520.1:p.Val9Leu, XP_047302141.1:p.Val9Leu, XP_047302153.1:p.Val9Leu

                                16.

                                rs1450876029 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  2:201160879 (GRCh38)
                                  2:202025602 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:201160878:A:C
                                  Gene:
                                  CFLAR (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.201160879A>C, NC_000002.11:g.202025602A>C, NG_029005.1:g.49726A>C, NM_003879.7:c.1241A>C, NM_003879.6:c.1241A>C, NM_003879.5:c.1241A>C, NM_001127183.4:c.1241A>C, NM_001127183.3:c.1241A>C, NM_001127183.2:c.1241A>C, NM_001202516.3:c.1136A>C, NM_001202516.2:c.1136A>C, NM_001202516.1:c.1136A>C, NM_001202517.3:c.953A>C, NM_001202517.2:c.953A>C, NM_001202517.1:c.953A>C, NM_001308042.3:c.1241A>C, NM_001308042.2:c.1241A>C, NM_001308042.1:c.1241A>C, NM_001202519.3:c.953A>C, NM_001202519.2:c.953A>C, NM_001202519.1:c.953A>C, NM_001351594.2:c.953A>C, NM_001351594.1:c.953A>C, NM_001351593.2:c.953A>C, NM_001351593.1:c.953A>C, NM_001351590.2:c.1241A>C, NM_001351590.1:c.1241A>C, NR_147250.2:n.1613A>C, NR_147250.1:n.1673A>C, NM_001202518.2:c.953A>C, NM_001202518.1:c.953A>C, NR_147251.2:n.1696A>C, NR_147251.1:n.1756A>C, NR_147247.2:n.1696A>C, NR_147247.1:n.1756A>C, NR_147253.2:n.1564A>C, NR_147253.1:n.1789A>C, NR_147246.2:n.1557A>C, NR_147246.1:n.1617A>C, NR_147244.2:n.1415A>C, NR_147244.1:n.1475A>C, NR_147243.2:n.1415A>C, NR_147243.1:n.1475A>C, NR_147249.2:n.1278A>C, NR_147249.1:n.1338A>C, NR_147245.2:n.1696A>C, NR_147245.1:n.1756A>C, NR_147242.2:n.1549A>C, NR_147242.1:n.1609A>C, NR_147248.2:n.1278A>C, NR_147248.1:n.1338A>C, NM_001202515.1:c.506A>C, XR_001739013.3:n.1696A>C, XR_001739013.2:n.1694A>C, XR_001739013.1:n.1697A>C, XM_047446185.1:c.1241A>C, XR_007083723.1:n.12057A>C, XM_047446191.1:c.953A>C, XR_007083713.1:n.1696A>C, XR_007083715.1:n.1564A>C, XR_007083702.1:n.1696A>C, XR_007083684.1:n.1564A>C, NP_003870.4:p.Glu414Ala, NP_001120655.1:p.Glu414Ala, NP_001189445.1:p.Glu379Ala, NP_001189446.1:p.Glu318Ala, NP_001294971.1:p.Glu414Ala, NP_001189448.1:p.Glu318Ala, NP_001338523.1:p.Glu318Ala, NP_001338522.1:p.Glu318Ala, NP_001338519.1:p.Glu414Ala, NP_001189447.1:p.Glu318Ala, NP_001189444.1:p.Glu169Ala, XP_047302141.1:p.Glu414Ala, XP_047302147.1:p.Glu318Ala

                                  17.

                                  rs1449191616 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:201140416 (GRCh38)
                                    2:202005139 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:201140415:A:G
                                    Gene:
                                    CFLAR (Varview), CFLAR-AS1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.201140416A>G, NC_000002.11:g.202005139A>G, NG_029005.1:g.29263A>G, NM_003879.7:c.583A>G, NM_003879.6:c.583A>G, NM_003879.5:c.583A>G, NM_001127183.4:c.583A>G, NM_001127183.3:c.583A>G, NM_001127183.2:c.583A>G, NM_001127184.4:c.583A>G, NM_001127184.3:c.583A>G, NM_001127184.2:c.583A>G, NM_001202516.3:c.583A>G, NM_001202516.2:c.583A>G, NM_001202516.1:c.583A>G, NM_001202517.3:c.295A>G, NM_001202517.2:c.295A>G, NM_001202517.1:c.295A>G, NM_001308042.3:c.583A>G, NM_001308042.2:c.583A>G, NM_001308042.1:c.583A>G, NM_001202519.3:c.295A>G, NM_001202519.2:c.295A>G, NM_001202519.1:c.295A>G, NM_001351594.2:c.295A>G, NM_001351594.1:c.295A>G, NM_001351593.2:c.295A>G, NM_001351593.1:c.295A>G, NM_001351590.2:c.583A>G, NM_001351590.1:c.583A>G, NM_001202518.2:c.295A>G, NM_001202518.1:c.295A>G, NR_147251.2:n.1038A>G, NR_147251.1:n.1098A>G, NR_147247.2:n.1038A>G, NR_147247.1:n.1098A>G, NR_147253.2:n.906A>G, NR_147253.1:n.1131A>G, NR_147246.2:n.899A>G, NR_147246.1:n.959A>G, NR_147244.2:n.1038A>G, NR_147244.1:n.1098A>G, NR_147243.2:n.1038A>G, NR_147243.1:n.1098A>G, NR_147249.2:n.620A>G, NR_147249.1:n.680A>G, NR_147245.2:n.1038A>G, NR_147245.1:n.1098A>G, NR_147242.2:n.620A>G, NR_147242.1:n.680A>G, NR_147248.2:n.620A>G, NR_147248.1:n.680A>G, NM_001351592.2:c.583A>G, NM_001351592.1:c.583A>G, NM_001351591.2:c.583A>G, NM_001351591.1:c.583A>G, NR_147241.2:n.620A>G, NR_147241.1:n.680A>G, NR_147255.2:n.488A>G, NR_147255.1:n.713A>G, NM_001202515.1:c.-153A>G, XR_001739013.3:n.1038A>G, XR_001739013.2:n.1036A>G, XR_001739013.1:n.1039A>G, XM_047446185.1:c.583A>G, XR_007083723.1:n.11399A>G, XR_007083755.1:n.14166A>G, XM_047446197.1:c.583A>G, XM_047446191.1:c.295A>G, XR_007083713.1:n.1038A>G, XR_007083715.1:n.906A>G, XR_007083702.1:n.1038A>G, XR_007083684.1:n.906A>G, XR_007083742.1:n.3805A>G, XR_007083745.1:n.3673A>G, XR_007083735.1:n.1038A>G, XR_007083740.1:n.906A>G, NR_040030.1:n.914T>C, NP_003870.4:p.Lys195Glu, NP_001120655.1:p.Lys195Glu, NP_001120656.1:p.Lys195Glu, NP_001189445.1:p.Lys195Glu, NP_001189446.1:p.Lys99Glu, NP_001294971.1:p.Lys195Glu, NP_001189448.1:p.Lys99Glu, NP_001338523.1:p.Lys99Glu, NP_001338522.1:p.Lys99Glu, NP_001338519.1:p.Lys195Glu, NP_001189447.1:p.Lys99Glu, NP_001338521.1:p.Lys195Glu, NP_001338520.1:p.Lys195Glu, XP_047302141.1:p.Lys195Glu, XP_047302153.1:p.Lys195Glu, XP_047302147.1:p.Lys99Glu

                                    18.

                                    rs1449022022 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      2:201160738 (GRCh38)
                                      2:202025461 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:201160737:T:G
                                      Gene:
                                      CFLAR (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000546/1 (Korea1K)
                                      HGVS:
                                      NC_000002.12:g.201160738T>G, NC_000002.11:g.202025461T>G, NG_029005.1:g.49585T>G, NM_003879.7:c.1100T>G, NM_003879.6:c.1100T>G, NM_003879.5:c.1100T>G, NM_001127183.4:c.1100T>G, NM_001127183.3:c.1100T>G, NM_001127183.2:c.1100T>G, NM_001202516.3:c.995T>G, NM_001202516.2:c.995T>G, NM_001202516.1:c.995T>G, NM_001202517.3:c.812T>G, NM_001202517.2:c.812T>G, NM_001202517.1:c.812T>G, NM_001308042.3:c.1100T>G, NM_001308042.2:c.1100T>G, NM_001308042.1:c.1100T>G, NM_001202519.3:c.812T>G, NM_001202519.2:c.812T>G, NM_001202519.1:c.812T>G, NM_001351594.2:c.812T>G, NM_001351594.1:c.812T>G, NM_001351593.2:c.812T>G, NM_001351593.1:c.812T>G, NM_001351590.2:c.1100T>G, NM_001351590.1:c.1100T>G, NR_147250.2:n.1472T>G, NR_147250.1:n.1532T>G, NM_001202518.2:c.812T>G, NM_001202518.1:c.812T>G, NR_147251.2:n.1555T>G, NR_147251.1:n.1615T>G, NR_147247.2:n.1555T>G, NR_147247.1:n.1615T>G, NR_147253.2:n.1423T>G, NR_147253.1:n.1648T>G, NR_147246.2:n.1416T>G, NR_147246.1:n.1476T>G, NR_147244.2:n.1274T>G, NR_147244.1:n.1334T>G, NR_147243.2:n.1274T>G, NR_147243.1:n.1334T>G, NR_147249.2:n.1137T>G, NR_147249.1:n.1197T>G, NR_147245.2:n.1555T>G, NR_147245.1:n.1615T>G, NR_147242.2:n.1408T>G, NR_147242.1:n.1468T>G, NR_147248.2:n.1137T>G, NR_147248.1:n.1197T>G, NM_001202515.1:c.365T>G, XR_001739013.3:n.1555T>G, XR_001739013.2:n.1553T>G, XR_001739013.1:n.1556T>G, XM_047446185.1:c.1100T>G, XR_007083723.1:n.11916T>G, XM_047446191.1:c.812T>G, XR_007083713.1:n.1555T>G, XR_007083715.1:n.1423T>G, XR_007083702.1:n.1555T>G, XR_007083684.1:n.1423T>G, NP_003870.4:p.Leu367Arg, NP_001120655.1:p.Leu367Arg, NP_001189445.1:p.Leu332Arg, NP_001189446.1:p.Leu271Arg, NP_001294971.1:p.Leu367Arg, NP_001189448.1:p.Leu271Arg, NP_001338523.1:p.Leu271Arg, NP_001338522.1:p.Leu271Arg, NP_001338519.1:p.Leu367Arg, NP_001189447.1:p.Leu271Arg, NP_001189444.1:p.Leu122Arg, XP_047302141.1:p.Leu367Arg, XP_047302147.1:p.Leu271Arg

                                      19.

                                      rs1435491846 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:201149033 (GRCh38)
                                        2:202013756 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:201149032:C:T
                                        Gene:
                                        CFLAR (Varview), CFLAR-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.201149033C>T, NC_000002.11:g.202013756C>T, NG_029005.1:g.37880C>T, NM_003879.7:c.692C>T, NM_003879.6:c.692C>T, NM_003879.5:c.692C>T, NM_001127183.4:c.692C>T, NM_001127183.3:c.692C>T, NM_001127183.2:c.692C>T, NM_001202517.3:c.404C>T, NM_001202517.2:c.404C>T, NM_001202517.1:c.404C>T, NM_001308042.3:c.692C>T, NM_001308042.2:c.692C>T, NM_001308042.1:c.692C>T, NM_001202519.3:c.404C>T, NM_001202519.2:c.404C>T, NM_001202519.1:c.404C>T, NM_001351594.2:c.404C>T, NM_001351594.1:c.404C>T, NM_001351593.2:c.404C>T, NM_001351593.1:c.404C>T, NM_001351590.2:c.692C>T, NM_001351590.1:c.692C>T, NR_147250.2:n.1064C>T, NR_147250.1:n.1124C>T, NM_001202518.2:c.404C>T, NM_001202518.1:c.404C>T, NR_147251.2:n.1147C>T, NR_147251.1:n.1207C>T, NR_147247.2:n.1147C>T, NR_147247.1:n.1207C>T, NR_147253.2:n.1015C>T, NR_147253.1:n.1240C>T, NR_147246.2:n.1008C>T, NR_147246.1:n.1068C>T, NR_147244.2:n.1147C>T, NR_147244.1:n.1207C>T, NR_147243.2:n.1147C>T, NR_147243.1:n.1207C>T, NR_147249.2:n.729C>T, NR_147249.1:n.789C>T, NR_147245.2:n.1147C>T, NR_147245.1:n.1207C>T, NR_147242.2:n.729C>T, NR_147242.1:n.789C>T, NR_147248.2:n.729C>T, NR_147248.1:n.789C>T, NM_001202515.1:c.-44C>T, XR_001739013.3:n.1147C>T, XR_001739013.2:n.1145C>T, XR_001739013.1:n.1148C>T, XM_047446185.1:c.692C>T, XR_007083723.1:n.11508C>T, XM_047446191.1:c.404C>T, XR_007083713.1:n.1147C>T, XR_007083715.1:n.1015C>T, XR_007083702.1:n.1147C>T, XR_007083684.1:n.1015C>T, XR_007083735.1:n.1147C>T, XR_007083740.1:n.1015C>T, NP_003870.4:p.Ser231Leu, NP_001120655.1:p.Ser231Leu, NP_001189446.1:p.Ser135Leu, NP_001294971.1:p.Ser231Leu, NP_001189448.1:p.Ser135Leu, NP_001338523.1:p.Ser135Leu, NP_001338522.1:p.Ser135Leu, NP_001338519.1:p.Ser231Leu, NP_001189447.1:p.Ser135Leu, XP_047302141.1:p.Ser231Leu, XP_047302147.1:p.Ser135Leu

                                        20.

                                        rs1428253352 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:201133125 (GRCh38)
                                          2:201997848 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:201133124:C:T
                                          Gene:
                                          CFLAR (Varview)
                                          Functional Consequence:
                                          synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.201133125C>T, NC_000002.11:g.201997848C>T, NG_029005.1:g.21972C>T, NM_003879.7:c.378C>T, NM_003879.6:c.378C>T, NM_003879.5:c.378C>T, NM_001127183.4:c.378C>T, NM_001127183.3:c.378C>T, NM_001127183.2:c.378C>T, NM_001127184.4:c.378C>T, NM_001127184.3:c.378C>T, NM_001127184.2:c.378C>T, NM_001202516.3:c.378C>T, NM_001202516.2:c.378C>T, NM_001202516.1:c.378C>T, NM_001202517.3:c.90C>T, NM_001202517.2:c.90C>T, NM_001202517.1:c.90C>T, NM_001308042.3:c.378C>T, NM_001308042.2:c.378C>T, NM_001308042.1:c.378C>T, NM_001202519.3:c.90C>T, NM_001202519.2:c.90C>T, NM_001202519.1:c.90C>T, NM_001351594.2:c.90C>T, NM_001351594.1:c.90C>T, NM_001351593.2:c.90C>T, NM_001351593.1:c.90C>T, NM_001351590.2:c.378C>T, NM_001351590.1:c.378C>T, NR_147250.2:n.833C>T, NR_147250.1:n.893C>T, NM_001202518.2:c.90C>T, NM_001202518.1:c.90C>T, NR_147251.2:n.833C>T, NR_147251.1:n.893C>T, NR_147247.2:n.833C>T, NR_147247.1:n.893C>T, NR_147253.2:n.701C>T, NR_147253.1:n.926C>T, NR_147246.2:n.694C>T, NR_147246.1:n.754C>T, NR_147244.2:n.833C>T, NR_147244.1:n.893C>T, NR_147243.2:n.833C>T, NR_147243.1:n.893C>T, NR_147249.2:n.415C>T, NR_147249.1:n.475C>T, NR_147245.2:n.833C>T, NR_147245.1:n.893C>T, NR_147242.2:n.415C>T, NR_147242.1:n.475C>T, NR_147248.2:n.415C>T, NR_147248.1:n.475C>T, NM_001308043.2:c.378C>T, NM_001308043.1:c.378C>T, NM_001351592.2:c.378C>T, NM_001351592.1:c.378C>T, NM_001351591.2:c.378C>T, NM_001351591.1:c.378C>T, NR_147241.2:n.415C>T, NR_147241.1:n.475C>T, NR_147255.2:n.283C>T, NR_147255.1:n.508C>T, XR_001739013.3:n.833C>T, XR_001739013.2:n.831C>T, XR_001739013.1:n.834C>T, XM_047446185.1:c.378C>T, XR_007083723.1:n.11194C>T, XR_007083755.1:n.11194C>T, XM_047446197.1:c.378C>T, XM_047446191.1:c.90C>T, XR_007083713.1:n.833C>T, XR_007083715.1:n.701C>T, XR_007083702.1:n.833C>T, XR_007083684.1:n.701C>T, XR_007083742.1:n.833C>T, XR_007083745.1:n.701C>T, XR_007083735.1:n.833C>T, XR_007083740.1:n.701C>T

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