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Items: 1 to 20 of 1146

1.

rs1490858698 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TCTT>- [Show Flanks]
    Chromosome:
    21:14965039 (GRCh38)
    21:16337360 (GRCh37)
    Canonical SPDI:
    NC_000021.9:14965037:TTCTT:T
    Gene:
    NRIP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,frameshift_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000021.9:g.14965039_14965042del, NC_000021.8:g.16337360_16337363del, NG_050643.1:g.105863_105866del, NM_003489.4:c.3152_3155del, NM_003489.3:c.3152_3155del, XM_005261063.4:c.3152_3155del, XM_005261063.3:c.3152_3155del, XM_005261063.2:c.3152_3155del, XM_005261063.1:c.3152_3155del, XM_005261065.4:c.3152_3155del, XM_005261065.3:c.3152_3155del, XM_005261065.2:c.3152_3155del, XM_005261065.1:c.3152_3155del, XM_011529748.3:c.3152_3155del, XM_011529748.2:c.3152_3155del, XM_011529748.1:c.3152_3155del, XM_011529749.3:c.3152_3155del, XM_011529749.2:c.3152_3155del, XM_011529749.1:c.3152_3155del, XM_011529751.3:c.3152_3155del, XM_011529751.2:c.3152_3155del, XM_011529751.1:c.3152_3155del, XM_017028475.2:c.3152_3155del, XM_017028475.1:c.3152_3155del, XM_017028473.2:c.3152_3155del, XM_017028473.1:c.3152_3155del, XM_017028476.2:c.3152_3155del, XM_017028476.1:c.3152_3155del, XM_011529747.2:c.3152_3155del, XM_011529747.1:c.3152_3155del, XM_011529752.2:c.3152_3155del, XM_011529752.1:c.3152_3155del, XM_047440995.1:c.3152_3155del, XM_047440999.1:c.3152_3155del, XM_047440993.1:c.3152_3155del, XM_047440996.1:c.3152_3155del, XM_047440994.1:c.3152_3155del, XM_047440991.1:c.3152_3155del, XM_047440990.1:c.3152_3155del, XM_047440992.1:c.3152_3155del, XM_047440998.1:c.3152_3155del, XM_047440997.1:c.3152_3155del, NP_003480.2:p.Lys1051fs, XP_005261120.1:p.Lys1051fs, XP_005261122.1:p.Lys1051fs, XP_011528050.1:p.Lys1051fs, XP_011528051.1:p.Lys1051fs, XP_011528053.1:p.Lys1051fs, XP_016883964.1:p.Lys1051fs, XP_016883962.1:p.Lys1051fs, XP_016883965.1:p.Lys1051fs, XP_011528049.1:p.Lys1051fs, XP_011528054.1:p.Lys1051fs, XP_047296951.1:p.Lys1051fs, XP_047296955.1:p.Lys1051fs, XP_047296949.1:p.Lys1051fs, XP_047296952.1:p.Lys1051fs, XP_047296950.1:p.Lys1051fs, XP_047296947.1:p.Lys1051fs, XP_047296946.1:p.Lys1051fs, XP_047296948.1:p.Lys1051fs, XP_047296954.1:p.Lys1051fs, XP_047296953.1:p.Lys1051fs

    2.

    rs1490420268 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      21:14966073 (GRCh38)
      21:16338394 (GRCh37)
      Canonical SPDI:
      NC_000021.9:14966072:A:G
      Gene:
      NRIP1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000021.9:g.14966073A>G, NC_000021.8:g.16338394A>G, NG_050643.1:g.104831T>C, NM_003489.4:c.2120T>C, NM_003489.3:c.2120T>C, XM_005261063.4:c.2120T>C, XM_005261063.3:c.2120T>C, XM_005261063.2:c.2120T>C, XM_005261063.1:c.2120T>C, XM_005261065.4:c.2120T>C, XM_005261065.3:c.2120T>C, XM_005261065.2:c.2120T>C, XM_005261065.1:c.2120T>C, XM_011529748.3:c.2120T>C, XM_011529748.2:c.2120T>C, XM_011529748.1:c.2120T>C, XM_011529749.3:c.2120T>C, XM_011529749.2:c.2120T>C, XM_011529749.1:c.2120T>C, XM_011529751.3:c.2120T>C, XM_011529751.2:c.2120T>C, XM_011529751.1:c.2120T>C, XM_017028475.2:c.2120T>C, XM_017028475.1:c.2120T>C, XM_017028473.2:c.2120T>C, XM_017028473.1:c.2120T>C, XM_017028476.2:c.2120T>C, XM_017028476.1:c.2120T>C, XM_011529747.2:c.2120T>C, XM_011529747.1:c.2120T>C, XM_011529752.2:c.2120T>C, XM_011529752.1:c.2120T>C, XM_047440995.1:c.2120T>C, XM_047440999.1:c.2120T>C, XM_047440993.1:c.2120T>C, XM_047440996.1:c.2120T>C, XM_047440994.1:c.2120T>C, XM_047440991.1:c.2120T>C, XM_047440990.1:c.2120T>C, XM_047440992.1:c.2120T>C, XM_047440998.1:c.2120T>C, XM_047440997.1:c.2120T>C, NP_003480.2:p.Leu707Pro, XP_005261120.1:p.Leu707Pro, XP_005261122.1:p.Leu707Pro, XP_011528050.1:p.Leu707Pro, XP_011528051.1:p.Leu707Pro, XP_011528053.1:p.Leu707Pro, XP_016883964.1:p.Leu707Pro, XP_016883962.1:p.Leu707Pro, XP_016883965.1:p.Leu707Pro, XP_011528049.1:p.Leu707Pro, XP_011528054.1:p.Leu707Pro, XP_047296951.1:p.Leu707Pro, XP_047296955.1:p.Leu707Pro, XP_047296949.1:p.Leu707Pro, XP_047296952.1:p.Leu707Pro, XP_047296950.1:p.Leu707Pro, XP_047296947.1:p.Leu707Pro, XP_047296946.1:p.Leu707Pro, XP_047296948.1:p.Leu707Pro, XP_047296954.1:p.Leu707Pro, XP_047296953.1:p.Leu707Pro

      3.

      rs1489765928 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        21:14965598 (GRCh38)
        21:16337919 (GRCh37)
        Canonical SPDI:
        NC_000021.9:14965597:T:C
        Gene:
        NRIP1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000004/1 (TOPMED)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000021.9:g.14965598T>C, NC_000021.8:g.16337919T>C, NG_050643.1:g.105306A>G, NM_003489.4:c.2595A>G, NM_003489.3:c.2595A>G, XM_005261063.4:c.2595A>G, XM_005261063.3:c.2595A>G, XM_005261063.2:c.2595A>G, XM_005261063.1:c.2595A>G, XM_005261065.4:c.2595A>G, XM_005261065.3:c.2595A>G, XM_005261065.2:c.2595A>G, XM_005261065.1:c.2595A>G, XM_011529748.3:c.2595A>G, XM_011529748.2:c.2595A>G, XM_011529748.1:c.2595A>G, XM_011529749.3:c.2595A>G, XM_011529749.2:c.2595A>G, XM_011529749.1:c.2595A>G, XM_011529751.3:c.2595A>G, XM_011529751.2:c.2595A>G, XM_011529751.1:c.2595A>G, XM_017028475.2:c.2595A>G, XM_017028475.1:c.2595A>G, XM_017028473.2:c.2595A>G, XM_017028473.1:c.2595A>G, XM_017028476.2:c.2595A>G, XM_017028476.1:c.2595A>G, XM_011529747.2:c.2595A>G, XM_011529747.1:c.2595A>G, XM_011529752.2:c.2595A>G, XM_011529752.1:c.2595A>G, XM_047440995.1:c.2595A>G, XM_047440999.1:c.2595A>G, XM_047440993.1:c.2595A>G, XM_047440996.1:c.2595A>G, XM_047440994.1:c.2595A>G, XM_047440991.1:c.2595A>G, XM_047440990.1:c.2595A>G, XM_047440992.1:c.2595A>G, XM_047440998.1:c.2595A>G, XM_047440997.1:c.2595A>G

        4.

        rs1489712275 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          21:14967310 (GRCh38)
          21:16339631 (GRCh37)
          Canonical SPDI:
          NC_000021.9:14967309:T:C
          Gene:
          NRIP1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000021.9:g.14967310T>C, NC_000021.8:g.16339631T>C, NG_050643.1:g.103594A>G, NM_003489.4:c.883A>G, NM_003489.3:c.883A>G, XM_005261063.4:c.883A>G, XM_005261063.3:c.883A>G, XM_005261063.2:c.883A>G, XM_005261063.1:c.883A>G, XM_005261065.4:c.883A>G, XM_005261065.3:c.883A>G, XM_005261065.2:c.883A>G, XM_005261065.1:c.883A>G, XM_011529748.3:c.883A>G, XM_011529748.2:c.883A>G, XM_011529748.1:c.883A>G, XM_011529749.3:c.883A>G, XM_011529749.2:c.883A>G, XM_011529749.1:c.883A>G, XM_011529751.3:c.883A>G, XM_011529751.2:c.883A>G, XM_011529751.1:c.883A>G, XM_017028475.2:c.883A>G, XM_017028475.1:c.883A>G, XM_017028473.2:c.883A>G, XM_017028473.1:c.883A>G, XM_017028476.2:c.883A>G, XM_017028476.1:c.883A>G, XM_011529747.2:c.883A>G, XM_011529747.1:c.883A>G, XM_011529752.2:c.883A>G, XM_011529752.1:c.883A>G, XM_047440995.1:c.883A>G, XM_047440999.1:c.883A>G, XM_047440993.1:c.883A>G, XM_047440996.1:c.883A>G, XM_047440994.1:c.883A>G, XM_047440991.1:c.883A>G, XM_047440990.1:c.883A>G, XM_047440992.1:c.883A>G, XM_047440998.1:c.883A>G, XM_047440997.1:c.883A>G, NP_003480.2:p.Ser295Gly, XP_005261120.1:p.Ser295Gly, XP_005261122.1:p.Ser295Gly, XP_011528050.1:p.Ser295Gly, XP_011528051.1:p.Ser295Gly, XP_011528053.1:p.Ser295Gly, XP_016883964.1:p.Ser295Gly, XP_016883962.1:p.Ser295Gly, XP_016883965.1:p.Ser295Gly, XP_011528049.1:p.Ser295Gly, XP_011528054.1:p.Ser295Gly, XP_047296951.1:p.Ser295Gly, XP_047296955.1:p.Ser295Gly, XP_047296949.1:p.Ser295Gly, XP_047296952.1:p.Ser295Gly, XP_047296950.1:p.Ser295Gly, XP_047296947.1:p.Ser295Gly, XP_047296946.1:p.Ser295Gly, XP_047296948.1:p.Ser295Gly, XP_047296954.1:p.Ser295Gly, XP_047296953.1:p.Ser295Gly

          5.

          rs1489122161 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            21:14967651 (GRCh38)
            21:16339972 (GRCh37)
            Canonical SPDI:
            NC_000021.9:14967650:G:C
            Gene:
            NRIP1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000008/2 (GnomAD_exomes)
            C=0.000342/1 (KOREAN)
            HGVS:
            NC_000021.9:g.14967651G>C, NC_000021.8:g.16339972G>C, NG_050643.1:g.103253C>G, NM_003489.4:c.542C>G, NM_003489.3:c.542C>G, XM_005261063.4:c.542C>G, XM_005261063.3:c.542C>G, XM_005261063.2:c.542C>G, XM_005261063.1:c.542C>G, XM_005261065.4:c.542C>G, XM_005261065.3:c.542C>G, XM_005261065.2:c.542C>G, XM_005261065.1:c.542C>G, XM_011529748.3:c.542C>G, XM_011529748.2:c.542C>G, XM_011529748.1:c.542C>G, XM_011529749.3:c.542C>G, XM_011529749.2:c.542C>G, XM_011529749.1:c.542C>G, XM_011529751.3:c.542C>G, XM_011529751.2:c.542C>G, XM_011529751.1:c.542C>G, XM_017028475.2:c.542C>G, XM_017028475.1:c.542C>G, XM_017028473.2:c.542C>G, XM_017028473.1:c.542C>G, XM_017028476.2:c.542C>G, XM_017028476.1:c.542C>G, XM_011529747.2:c.542C>G, XM_011529747.1:c.542C>G, XM_011529752.2:c.542C>G, XM_011529752.1:c.542C>G, XM_047440995.1:c.542C>G, XM_047440999.1:c.542C>G, XM_047440993.1:c.542C>G, XM_047440996.1:c.542C>G, XM_047440994.1:c.542C>G, XM_047440991.1:c.542C>G, XM_047440990.1:c.542C>G, XM_047440992.1:c.542C>G, XM_047440998.1:c.542C>G, XM_047440997.1:c.542C>G, NP_003480.2:p.Ala181Gly, XP_005261120.1:p.Ala181Gly, XP_005261122.1:p.Ala181Gly, XP_011528050.1:p.Ala181Gly, XP_011528051.1:p.Ala181Gly, XP_011528053.1:p.Ala181Gly, XP_016883964.1:p.Ala181Gly, XP_016883962.1:p.Ala181Gly, XP_016883965.1:p.Ala181Gly, XP_011528049.1:p.Ala181Gly, XP_011528054.1:p.Ala181Gly, XP_047296951.1:p.Ala181Gly, XP_047296955.1:p.Ala181Gly, XP_047296949.1:p.Ala181Gly, XP_047296952.1:p.Ala181Gly, XP_047296950.1:p.Ala181Gly, XP_047296947.1:p.Ala181Gly, XP_047296946.1:p.Ala181Gly, XP_047296948.1:p.Ala181Gly, XP_047296954.1:p.Ala181Gly, XP_047296953.1:p.Ala181Gly

            6.

            rs1488774190 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              21:14967660 (GRCh38)
              21:16339981 (GRCh37)
              Canonical SPDI:
              NC_000021.9:14967659:T:C
              Gene:
              NRIP1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.14967660T>C, NC_000021.8:g.16339981T>C, NG_050643.1:g.103244A>G, NM_003489.4:c.533A>G, NM_003489.3:c.533A>G, XM_005261063.4:c.533A>G, XM_005261063.3:c.533A>G, XM_005261063.2:c.533A>G, XM_005261063.1:c.533A>G, XM_005261065.4:c.533A>G, XM_005261065.3:c.533A>G, XM_005261065.2:c.533A>G, XM_005261065.1:c.533A>G, XM_011529748.3:c.533A>G, XM_011529748.2:c.533A>G, XM_011529748.1:c.533A>G, XM_011529749.3:c.533A>G, XM_011529749.2:c.533A>G, XM_011529749.1:c.533A>G, XM_011529751.3:c.533A>G, XM_011529751.2:c.533A>G, XM_011529751.1:c.533A>G, XM_017028475.2:c.533A>G, XM_017028475.1:c.533A>G, XM_017028473.2:c.533A>G, XM_017028473.1:c.533A>G, XM_017028476.2:c.533A>G, XM_017028476.1:c.533A>G, XM_011529747.2:c.533A>G, XM_011529747.1:c.533A>G, XM_011529752.2:c.533A>G, XM_011529752.1:c.533A>G, XM_047440995.1:c.533A>G, XM_047440999.1:c.533A>G, XM_047440993.1:c.533A>G, XM_047440996.1:c.533A>G, XM_047440994.1:c.533A>G, XM_047440991.1:c.533A>G, XM_047440990.1:c.533A>G, XM_047440992.1:c.533A>G, XM_047440998.1:c.533A>G, XM_047440997.1:c.533A>G, NP_003480.2:p.Tyr178Cys, XP_005261120.1:p.Tyr178Cys, XP_005261122.1:p.Tyr178Cys, XP_011528050.1:p.Tyr178Cys, XP_011528051.1:p.Tyr178Cys, XP_011528053.1:p.Tyr178Cys, XP_016883964.1:p.Tyr178Cys, XP_016883962.1:p.Tyr178Cys, XP_016883965.1:p.Tyr178Cys, XP_011528049.1:p.Tyr178Cys, XP_011528054.1:p.Tyr178Cys, XP_047296951.1:p.Tyr178Cys, XP_047296955.1:p.Tyr178Cys, XP_047296949.1:p.Tyr178Cys, XP_047296952.1:p.Tyr178Cys, XP_047296950.1:p.Tyr178Cys, XP_047296947.1:p.Tyr178Cys, XP_047296946.1:p.Tyr178Cys, XP_047296948.1:p.Tyr178Cys, XP_047296954.1:p.Tyr178Cys, XP_047296953.1:p.Tyr178Cys

              7.

              rs1488528716 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CCC>- [Show Flanks]
                Chromosome:
                21:14966024 (GRCh38)
                21:16338345 (GRCh37)
                Canonical SPDI:
                NC_000021.9:14966023:CCC:
                Gene:
                NRIP1 (Varview)
                Functional Consequence:
                inframe_deletion,coding_sequence_variant
                HGVS:
                NC_000021.9:g.14966024_14966026del, NC_000021.8:g.16338345_16338347del, NG_050643.1:g.104878_104880del, NM_003489.4:c.2167_2169del, NM_003489.3:c.2167_2169del, XM_005261063.4:c.2167_2169del, XM_005261063.3:c.2167_2169del, XM_005261063.2:c.2167_2169del, XM_005261063.1:c.2167_2169del, XM_005261065.4:c.2167_2169del, XM_005261065.3:c.2167_2169del, XM_005261065.2:c.2167_2169del, XM_005261065.1:c.2167_2169del, XM_011529748.3:c.2167_2169del, XM_011529748.2:c.2167_2169del, XM_011529748.1:c.2167_2169del, XM_011529749.3:c.2167_2169del, XM_011529749.2:c.2167_2169del, XM_011529749.1:c.2167_2169del, XM_011529751.3:c.2167_2169del, XM_011529751.2:c.2167_2169del, XM_011529751.1:c.2167_2169del, XM_017028475.2:c.2167_2169del, XM_017028475.1:c.2167_2169del, XM_017028473.2:c.2167_2169del, XM_017028473.1:c.2167_2169del, XM_017028476.2:c.2167_2169del, XM_017028476.1:c.2167_2169del, XM_011529747.2:c.2167_2169del, XM_011529747.1:c.2167_2169del, XM_011529752.2:c.2167_2169del, XM_011529752.1:c.2167_2169del, XM_047440995.1:c.2167_2169del, XM_047440999.1:c.2167_2169del, XM_047440993.1:c.2167_2169del, XM_047440996.1:c.2167_2169del, XM_047440994.1:c.2167_2169del, XM_047440991.1:c.2167_2169del, XM_047440990.1:c.2167_2169del, XM_047440992.1:c.2167_2169del, XM_047440998.1:c.2167_2169del, XM_047440997.1:c.2167_2169del, NP_003480.2:p.Gly723del, XP_005261120.1:p.Gly723del, XP_005261122.1:p.Gly723del, XP_011528050.1:p.Gly723del, XP_011528051.1:p.Gly723del, XP_011528053.1:p.Gly723del, XP_016883964.1:p.Gly723del, XP_016883962.1:p.Gly723del, XP_016883965.1:p.Gly723del, XP_011528049.1:p.Gly723del, XP_011528054.1:p.Gly723del, XP_047296951.1:p.Gly723del, XP_047296955.1:p.Gly723del, XP_047296949.1:p.Gly723del, XP_047296952.1:p.Gly723del, XP_047296950.1:p.Gly723del, XP_047296947.1:p.Gly723del, XP_047296946.1:p.Gly723del, XP_047296948.1:p.Gly723del, XP_047296954.1:p.Gly723del, XP_047296953.1:p.Gly723del

                8.

                rs1487679999 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  21:14967235 (GRCh38)
                  21:16339556 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:14967234:C:G
                  Gene:
                  NRIP1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000008/2 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000021.9:g.14967235C>G, NC_000021.8:g.16339556C>G, NG_050643.1:g.103669G>C, NM_003489.4:c.958G>C, NM_003489.3:c.958G>C, XM_005261063.4:c.958G>C, XM_005261063.3:c.958G>C, XM_005261063.2:c.958G>C, XM_005261063.1:c.958G>C, XM_005261065.4:c.958G>C, XM_005261065.3:c.958G>C, XM_005261065.2:c.958G>C, XM_005261065.1:c.958G>C, XM_011529748.3:c.958G>C, XM_011529748.2:c.958G>C, XM_011529748.1:c.958G>C, XM_011529749.3:c.958G>C, XM_011529749.2:c.958G>C, XM_011529749.1:c.958G>C, XM_011529751.3:c.958G>C, XM_011529751.2:c.958G>C, XM_011529751.1:c.958G>C, XM_017028475.2:c.958G>C, XM_017028475.1:c.958G>C, XM_017028473.2:c.958G>C, XM_017028473.1:c.958G>C, XM_017028476.2:c.958G>C, XM_017028476.1:c.958G>C, XM_011529747.2:c.958G>C, XM_011529747.1:c.958G>C, XM_011529752.2:c.958G>C, XM_011529752.1:c.958G>C, XM_047440995.1:c.958G>C, XM_047440999.1:c.958G>C, XM_047440993.1:c.958G>C, XM_047440996.1:c.958G>C, XM_047440994.1:c.958G>C, XM_047440991.1:c.958G>C, XM_047440990.1:c.958G>C, XM_047440992.1:c.958G>C, XM_047440998.1:c.958G>C, XM_047440997.1:c.958G>C, NP_003480.2:p.Gly320Arg, XP_005261120.1:p.Gly320Arg, XP_005261122.1:p.Gly320Arg, XP_011528050.1:p.Gly320Arg, XP_011528051.1:p.Gly320Arg, XP_011528053.1:p.Gly320Arg, XP_016883964.1:p.Gly320Arg, XP_016883962.1:p.Gly320Arg, XP_016883965.1:p.Gly320Arg, XP_011528049.1:p.Gly320Arg, XP_011528054.1:p.Gly320Arg, XP_047296951.1:p.Gly320Arg, XP_047296955.1:p.Gly320Arg, XP_047296949.1:p.Gly320Arg, XP_047296952.1:p.Gly320Arg, XP_047296950.1:p.Gly320Arg, XP_047296947.1:p.Gly320Arg, XP_047296946.1:p.Gly320Arg, XP_047296948.1:p.Gly320Arg, XP_047296954.1:p.Gly320Arg, XP_047296953.1:p.Gly320Arg

                  9.

                  rs1487335283 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    21:14967917 (GRCh38)
                    21:16340238 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:14967916:G:A
                    Gene:
                    NRIP1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000021.9:g.14967917G>A, NC_000021.8:g.16340238G>A, NG_050643.1:g.102987C>T, NM_003489.4:c.276C>T, NM_003489.3:c.276C>T, XM_005261063.4:c.276C>T, XM_005261063.3:c.276C>T, XM_005261063.2:c.276C>T, XM_005261063.1:c.276C>T, XM_005261065.4:c.276C>T, XM_005261065.3:c.276C>T, XM_005261065.2:c.276C>T, XM_005261065.1:c.276C>T, XM_011529748.3:c.276C>T, XM_011529748.2:c.276C>T, XM_011529748.1:c.276C>T, XM_011529749.3:c.276C>T, XM_011529749.2:c.276C>T, XM_011529749.1:c.276C>T, XM_011529751.3:c.276C>T, XM_011529751.2:c.276C>T, XM_011529751.1:c.276C>T, XM_017028475.2:c.276C>T, XM_017028475.1:c.276C>T, XM_017028473.2:c.276C>T, XM_017028473.1:c.276C>T, XM_017028476.2:c.276C>T, XM_017028476.1:c.276C>T, XM_011529747.2:c.276C>T, XM_011529747.1:c.276C>T, XM_011529752.2:c.276C>T, XM_011529752.1:c.276C>T, XM_047440995.1:c.276C>T, XM_047440999.1:c.276C>T, XM_047440993.1:c.276C>T, XM_047440996.1:c.276C>T, XM_047440994.1:c.276C>T, XM_047440991.1:c.276C>T, XM_047440990.1:c.276C>T, XM_047440992.1:c.276C>T, XM_047440998.1:c.276C>T, XM_047440997.1:c.276C>T

                    10.

                    rs1486409650 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      21:14966272 (GRCh38)
                      21:16338593 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:14966271:A:T
                      Gene:
                      NRIP1 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000021.9:g.14966272A>T, NC_000021.8:g.16338593A>T, NG_050643.1:g.104632T>A, NM_003489.4:c.1921T>A, NM_003489.3:c.1921T>A, XM_005261063.4:c.1921T>A, XM_005261063.3:c.1921T>A, XM_005261063.2:c.1921T>A, XM_005261063.1:c.1921T>A, XM_005261065.4:c.1921T>A, XM_005261065.3:c.1921T>A, XM_005261065.2:c.1921T>A, XM_005261065.1:c.1921T>A, XM_011529748.3:c.1921T>A, XM_011529748.2:c.1921T>A, XM_011529748.1:c.1921T>A, XM_011529749.3:c.1921T>A, XM_011529749.2:c.1921T>A, XM_011529749.1:c.1921T>A, XM_011529751.3:c.1921T>A, XM_011529751.2:c.1921T>A, XM_011529751.1:c.1921T>A, XM_017028475.2:c.1921T>A, XM_017028475.1:c.1921T>A, XM_017028473.2:c.1921T>A, XM_017028473.1:c.1921T>A, XM_017028476.2:c.1921T>A, XM_017028476.1:c.1921T>A, XM_011529747.2:c.1921T>A, XM_011529747.1:c.1921T>A, XM_011529752.2:c.1921T>A, XM_011529752.1:c.1921T>A, XM_047440995.1:c.1921T>A, XM_047440999.1:c.1921T>A, XM_047440993.1:c.1921T>A, XM_047440996.1:c.1921T>A, XM_047440994.1:c.1921T>A, XM_047440991.1:c.1921T>A, XM_047440990.1:c.1921T>A, XM_047440992.1:c.1921T>A, XM_047440998.1:c.1921T>A, XM_047440997.1:c.1921T>A, NP_003480.2:p.Ser641Thr, XP_005261120.1:p.Ser641Thr, XP_005261122.1:p.Ser641Thr, XP_011528050.1:p.Ser641Thr, XP_011528051.1:p.Ser641Thr, XP_011528053.1:p.Ser641Thr, XP_016883964.1:p.Ser641Thr, XP_016883962.1:p.Ser641Thr, XP_016883965.1:p.Ser641Thr, XP_011528049.1:p.Ser641Thr, XP_011528054.1:p.Ser641Thr, XP_047296951.1:p.Ser641Thr, XP_047296955.1:p.Ser641Thr, XP_047296949.1:p.Ser641Thr, XP_047296952.1:p.Ser641Thr, XP_047296950.1:p.Ser641Thr, XP_047296947.1:p.Ser641Thr, XP_047296946.1:p.Ser641Thr, XP_047296948.1:p.Ser641Thr, XP_047296954.1:p.Ser641Thr, XP_047296953.1:p.Ser641Thr

                      11.

                      rs1486358047 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        21:14964975 (GRCh38)
                        21:16337296 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:14964974:T:C
                        Gene:
                        NRIP1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000021.9:g.14964975T>C, NC_000021.8:g.16337296T>C, NG_050643.1:g.105929A>G, NM_003489.4:c.3218A>G, NM_003489.3:c.3218A>G, XM_005261063.4:c.3218A>G, XM_005261063.3:c.3218A>G, XM_005261063.2:c.3218A>G, XM_005261063.1:c.3218A>G, XM_005261065.4:c.3218A>G, XM_005261065.3:c.3218A>G, XM_005261065.2:c.3218A>G, XM_005261065.1:c.3218A>G, XM_011529748.3:c.3218A>G, XM_011529748.2:c.3218A>G, XM_011529748.1:c.3218A>G, XM_011529749.3:c.3218A>G, XM_011529749.2:c.3218A>G, XM_011529749.1:c.3218A>G, XM_011529751.3:c.3218A>G, XM_011529751.2:c.3218A>G, XM_011529751.1:c.3218A>G, XM_017028475.2:c.3218A>G, XM_017028475.1:c.3218A>G, XM_017028473.2:c.3218A>G, XM_017028473.1:c.3218A>G, XM_017028476.2:c.3218A>G, XM_017028476.1:c.3218A>G, XM_011529747.2:c.3218A>G, XM_011529747.1:c.3218A>G, XM_011529752.2:c.3218A>G, XM_011529752.1:c.3218A>G, XM_047440995.1:c.3218A>G, XM_047440999.1:c.3218A>G, XM_047440993.1:c.3218A>G, XM_047440996.1:c.3218A>G, XM_047440994.1:c.3218A>G, XM_047440991.1:c.3218A>G, XM_047440990.1:c.3218A>G, XM_047440992.1:c.3218A>G, XM_047440998.1:c.3218A>G, XM_047440997.1:c.3218A>G, NP_003480.2:p.Gln1073Arg, XP_005261120.1:p.Gln1073Arg, XP_005261122.1:p.Gln1073Arg, XP_011528050.1:p.Gln1073Arg, XP_011528051.1:p.Gln1073Arg, XP_011528053.1:p.Gln1073Arg, XP_016883964.1:p.Gln1073Arg, XP_016883962.1:p.Gln1073Arg, XP_016883965.1:p.Gln1073Arg, XP_011528049.1:p.Gln1073Arg, XP_011528054.1:p.Gln1073Arg, XP_047296951.1:p.Gln1073Arg, XP_047296955.1:p.Gln1073Arg, XP_047296949.1:p.Gln1073Arg, XP_047296952.1:p.Gln1073Arg, XP_047296950.1:p.Gln1073Arg, XP_047296947.1:p.Gln1073Arg, XP_047296946.1:p.Gln1073Arg, XP_047296948.1:p.Gln1073Arg, XP_047296954.1:p.Gln1073Arg, XP_047296953.1:p.Gln1073Arg

                        12.

                        rs1486131510 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          21:14967953 (GRCh38)
                          21:16340274 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:14967952:G:A
                          Gene:
                          NRIP1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000028/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000004/1 (TOPMED)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000021.9:g.14967953G>A, NC_000021.8:g.16340274G>A, NG_050643.1:g.102951C>T, NM_003489.4:c.240C>T, NM_003489.3:c.240C>T, XM_005261063.4:c.240C>T, XM_005261063.3:c.240C>T, XM_005261063.2:c.240C>T, XM_005261063.1:c.240C>T, XM_005261065.4:c.240C>T, XM_005261065.3:c.240C>T, XM_005261065.2:c.240C>T, XM_005261065.1:c.240C>T, XM_011529748.3:c.240C>T, XM_011529748.2:c.240C>T, XM_011529748.1:c.240C>T, XM_011529749.3:c.240C>T, XM_011529749.2:c.240C>T, XM_011529749.1:c.240C>T, XM_011529751.3:c.240C>T, XM_011529751.2:c.240C>T, XM_011529751.1:c.240C>T, XM_017028475.2:c.240C>T, XM_017028475.1:c.240C>T, XM_017028473.2:c.240C>T, XM_017028473.1:c.240C>T, XM_017028476.2:c.240C>T, XM_017028476.1:c.240C>T, XM_011529747.2:c.240C>T, XM_011529747.1:c.240C>T, XM_011529752.2:c.240C>T, XM_011529752.1:c.240C>T, XM_047440995.1:c.240C>T, XM_047440999.1:c.240C>T, XM_047440993.1:c.240C>T, XM_047440996.1:c.240C>T, XM_047440994.1:c.240C>T, XM_047440991.1:c.240C>T, XM_047440990.1:c.240C>T, XM_047440992.1:c.240C>T, XM_047440998.1:c.240C>T, XM_047440997.1:c.240C>T

                          13.

                          rs1483373246 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            21:14967767 (GRCh38)
                            21:16340088 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:14967766:A:C
                            Gene:
                            NRIP1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000021.9:g.14967767A>C, NC_000021.8:g.16340088A>C, NG_050643.1:g.103137T>G, NM_003489.4:c.426T>G, NM_003489.3:c.426T>G, XM_005261063.4:c.426T>G, XM_005261063.3:c.426T>G, XM_005261063.2:c.426T>G, XM_005261063.1:c.426T>G, XM_005261065.4:c.426T>G, XM_005261065.3:c.426T>G, XM_005261065.2:c.426T>G, XM_005261065.1:c.426T>G, XM_011529748.3:c.426T>G, XM_011529748.2:c.426T>G, XM_011529748.1:c.426T>G, XM_011529749.3:c.426T>G, XM_011529749.2:c.426T>G, XM_011529749.1:c.426T>G, XM_011529751.3:c.426T>G, XM_011529751.2:c.426T>G, XM_011529751.1:c.426T>G, XM_017028475.2:c.426T>G, XM_017028475.1:c.426T>G, XM_017028473.2:c.426T>G, XM_017028473.1:c.426T>G, XM_017028476.2:c.426T>G, XM_017028476.1:c.426T>G, XM_011529747.2:c.426T>G, XM_011529747.1:c.426T>G, XM_011529752.2:c.426T>G, XM_011529752.1:c.426T>G, XM_047440995.1:c.426T>G, XM_047440999.1:c.426T>G, XM_047440993.1:c.426T>G, XM_047440996.1:c.426T>G, XM_047440994.1:c.426T>G, XM_047440991.1:c.426T>G, XM_047440990.1:c.426T>G, XM_047440992.1:c.426T>G, XM_047440998.1:c.426T>G, XM_047440997.1:c.426T>G

                            14.

                            rs1482665548 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              21:14967446 (GRCh38)
                              21:16339767 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:14967445:T:G
                              Gene:
                              NRIP1 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:
                              NC_000021.9:g.14967446T>G, NC_000021.8:g.16339767T>G, NG_050643.1:g.103458A>C, NM_003489.4:c.747A>C, NM_003489.3:c.747A>C, XM_005261063.4:c.747A>C, XM_005261063.3:c.747A>C, XM_005261063.2:c.747A>C, XM_005261063.1:c.747A>C, XM_005261065.4:c.747A>C, XM_005261065.3:c.747A>C, XM_005261065.2:c.747A>C, XM_005261065.1:c.747A>C, XM_011529748.3:c.747A>C, XM_011529748.2:c.747A>C, XM_011529748.1:c.747A>C, XM_011529749.3:c.747A>C, XM_011529749.2:c.747A>C, XM_011529749.1:c.747A>C, XM_011529751.3:c.747A>C, XM_011529751.2:c.747A>C, XM_011529751.1:c.747A>C, XM_017028475.2:c.747A>C, XM_017028475.1:c.747A>C, XM_017028473.2:c.747A>C, XM_017028473.1:c.747A>C, XM_017028476.2:c.747A>C, XM_017028476.1:c.747A>C, XM_011529747.2:c.747A>C, XM_011529747.1:c.747A>C, XM_011529752.2:c.747A>C, XM_011529752.1:c.747A>C, XM_047440995.1:c.747A>C, XM_047440999.1:c.747A>C, XM_047440993.1:c.747A>C, XM_047440996.1:c.747A>C, XM_047440994.1:c.747A>C, XM_047440991.1:c.747A>C, XM_047440990.1:c.747A>C, XM_047440992.1:c.747A>C, XM_047440998.1:c.747A>C, XM_047440997.1:c.747A>C, NP_003480.2:p.Lys249Asn, XP_005261120.1:p.Lys249Asn, XP_005261122.1:p.Lys249Asn, XP_011528050.1:p.Lys249Asn, XP_011528051.1:p.Lys249Asn, XP_011528053.1:p.Lys249Asn, XP_016883964.1:p.Lys249Asn, XP_016883962.1:p.Lys249Asn, XP_016883965.1:p.Lys249Asn, XP_011528049.1:p.Lys249Asn, XP_011528054.1:p.Lys249Asn, XP_047296951.1:p.Lys249Asn, XP_047296955.1:p.Lys249Asn, XP_047296949.1:p.Lys249Asn, XP_047296952.1:p.Lys249Asn, XP_047296950.1:p.Lys249Asn, XP_047296947.1:p.Lys249Asn, XP_047296946.1:p.Lys249Asn, XP_047296948.1:p.Lys249Asn, XP_047296954.1:p.Lys249Asn, XP_047296953.1:p.Lys249Asn

                              15.

                              rs1482542573 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                21:14965393 (GRCh38)
                                21:16337714 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:14965392:T:C
                                Gene:
                                NRIP1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000021.9:g.14965393T>C, NC_000021.8:g.16337714T>C, NG_050643.1:g.105511A>G, NM_003489.4:c.2800A>G, NM_003489.3:c.2800A>G, XM_005261063.4:c.2800A>G, XM_005261063.3:c.2800A>G, XM_005261063.2:c.2800A>G, XM_005261063.1:c.2800A>G, XM_005261065.4:c.2800A>G, XM_005261065.3:c.2800A>G, XM_005261065.2:c.2800A>G, XM_005261065.1:c.2800A>G, XM_011529748.3:c.2800A>G, XM_011529748.2:c.2800A>G, XM_011529748.1:c.2800A>G, XM_011529749.3:c.2800A>G, XM_011529749.2:c.2800A>G, XM_011529749.1:c.2800A>G, XM_011529751.3:c.2800A>G, XM_011529751.2:c.2800A>G, XM_011529751.1:c.2800A>G, XM_017028475.2:c.2800A>G, XM_017028475.1:c.2800A>G, XM_017028473.2:c.2800A>G, XM_017028473.1:c.2800A>G, XM_017028476.2:c.2800A>G, XM_017028476.1:c.2800A>G, XM_011529747.2:c.2800A>G, XM_011529747.1:c.2800A>G, XM_011529752.2:c.2800A>G, XM_011529752.1:c.2800A>G, XM_047440995.1:c.2800A>G, XM_047440999.1:c.2800A>G, XM_047440993.1:c.2800A>G, XM_047440996.1:c.2800A>G, XM_047440994.1:c.2800A>G, XM_047440991.1:c.2800A>G, XM_047440990.1:c.2800A>G, XM_047440992.1:c.2800A>G, XM_047440998.1:c.2800A>G, XM_047440997.1:c.2800A>G, NP_003480.2:p.Asn934Asp, XP_005261120.1:p.Asn934Asp, XP_005261122.1:p.Asn934Asp, XP_011528050.1:p.Asn934Asp, XP_011528051.1:p.Asn934Asp, XP_011528053.1:p.Asn934Asp, XP_016883964.1:p.Asn934Asp, XP_016883962.1:p.Asn934Asp, XP_016883965.1:p.Asn934Asp, XP_011528049.1:p.Asn934Asp, XP_011528054.1:p.Asn934Asp, XP_047296951.1:p.Asn934Asp, XP_047296955.1:p.Asn934Asp, XP_047296949.1:p.Asn934Asp, XP_047296952.1:p.Asn934Asp, XP_047296950.1:p.Asn934Asp, XP_047296947.1:p.Asn934Asp, XP_047296946.1:p.Asn934Asp, XP_047296948.1:p.Asn934Asp, XP_047296954.1:p.Asn934Asp, XP_047296953.1:p.Asn934Asp

                                16.

                                rs1482440563 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G,T [Show Flanks]
                                  Chromosome:
                                  21:14964764 (GRCh38)
                                  21:16337085 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:14964763:A:G,NC_000021.9:14964763:A:T
                                  Gene:
                                  NRIP1 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  T=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000021.9:g.14964764A>G, NC_000021.9:g.14964764A>T, NC_000021.8:g.16337085A>G, NC_000021.8:g.16337085A>T, NG_050643.1:g.106140T>C, NG_050643.1:g.106140T>A, NM_003489.4:c.3429T>C, NM_003489.4:c.3429T>A, NM_003489.3:c.3429T>C, NM_003489.3:c.3429T>A, XM_005261063.4:c.3429T>C, XM_005261063.4:c.3429T>A, XM_005261063.3:c.3429T>C, XM_005261063.3:c.3429T>A, XM_005261063.2:c.3429T>C, XM_005261063.2:c.3429T>A, XM_005261063.1:c.3429T>C, XM_005261063.1:c.3429T>A, XM_005261065.4:c.3429T>C, XM_005261065.4:c.3429T>A, XM_005261065.3:c.3429T>C, XM_005261065.3:c.3429T>A, XM_005261065.2:c.3429T>C, XM_005261065.2:c.3429T>A, XM_005261065.1:c.3429T>C, XM_005261065.1:c.3429T>A, XM_011529748.3:c.3429T>C, XM_011529748.3:c.3429T>A, XM_011529748.2:c.3429T>C, XM_011529748.2:c.3429T>A, XM_011529748.1:c.3429T>C, XM_011529748.1:c.3429T>A, XM_011529749.3:c.3429T>C, XM_011529749.3:c.3429T>A, XM_011529749.2:c.3429T>C, XM_011529749.2:c.3429T>A, XM_011529749.1:c.3429T>C, XM_011529749.1:c.3429T>A, XM_011529751.3:c.3429T>C, XM_011529751.3:c.3429T>A, XM_011529751.2:c.3429T>C, XM_011529751.2:c.3429T>A, XM_011529751.1:c.3429T>C, XM_011529751.1:c.3429T>A, XM_017028475.2:c.3429T>C, XM_017028475.2:c.3429T>A, XM_017028475.1:c.3429T>C, XM_017028475.1:c.3429T>A, XM_017028473.2:c.3429T>C, XM_017028473.2:c.3429T>A, XM_017028473.1:c.3429T>C, XM_017028473.1:c.3429T>A, XM_017028476.2:c.3429T>C, XM_017028476.2:c.3429T>A, XM_017028476.1:c.3429T>C, XM_017028476.1:c.3429T>A, XM_011529747.2:c.3429T>C, XM_011529747.2:c.3429T>A, XM_011529747.1:c.3429T>C, XM_011529747.1:c.3429T>A, XM_011529752.2:c.3429T>C, XM_011529752.2:c.3429T>A, XM_011529752.1:c.3429T>C, XM_011529752.1:c.3429T>A, XM_047440995.1:c.3429T>C, XM_047440995.1:c.3429T>A, XM_047440999.1:c.3429T>C, XM_047440999.1:c.3429T>A, XM_047440993.1:c.3429T>C, XM_047440993.1:c.3429T>A, XM_047440996.1:c.3429T>C, XM_047440996.1:c.3429T>A, XM_047440994.1:c.3429T>C, XM_047440994.1:c.3429T>A, XM_047440991.1:c.3429T>C, XM_047440991.1:c.3429T>A, XM_047440990.1:c.3429T>C, XM_047440990.1:c.3429T>A, XM_047440992.1:c.3429T>C, XM_047440992.1:c.3429T>A, XM_047440998.1:c.3429T>C, XM_047440998.1:c.3429T>A, XM_047440997.1:c.3429T>C, XM_047440997.1:c.3429T>A

                                  17.

                                  rs1482400608 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    21:14967271 (GRCh38)
                                    21:16339592 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:14967270:C:G
                                    Gene:
                                    NRIP1 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000021.9:g.14967271C>G, NC_000021.8:g.16339592C>G, NG_050643.1:g.103633G>C, NM_003489.4:c.922G>C, NM_003489.3:c.922G>C, XM_005261063.4:c.922G>C, XM_005261063.3:c.922G>C, XM_005261063.2:c.922G>C, XM_005261063.1:c.922G>C, XM_005261065.4:c.922G>C, XM_005261065.3:c.922G>C, XM_005261065.2:c.922G>C, XM_005261065.1:c.922G>C, XM_011529748.3:c.922G>C, XM_011529748.2:c.922G>C, XM_011529748.1:c.922G>C, XM_011529749.3:c.922G>C, XM_011529749.2:c.922G>C, XM_011529749.1:c.922G>C, XM_011529751.3:c.922G>C, XM_011529751.2:c.922G>C, XM_011529751.1:c.922G>C, XM_017028475.2:c.922G>C, XM_017028475.1:c.922G>C, XM_017028473.2:c.922G>C, XM_017028473.1:c.922G>C, XM_017028476.2:c.922G>C, XM_017028476.1:c.922G>C, XM_011529747.2:c.922G>C, XM_011529747.1:c.922G>C, XM_011529752.2:c.922G>C, XM_011529752.1:c.922G>C, XM_047440995.1:c.922G>C, XM_047440999.1:c.922G>C, XM_047440993.1:c.922G>C, XM_047440996.1:c.922G>C, XM_047440994.1:c.922G>C, XM_047440991.1:c.922G>C, XM_047440990.1:c.922G>C, XM_047440992.1:c.922G>C, XM_047440998.1:c.922G>C, XM_047440997.1:c.922G>C, NP_003480.2:p.Gly308Arg, XP_005261120.1:p.Gly308Arg, XP_005261122.1:p.Gly308Arg, XP_011528050.1:p.Gly308Arg, XP_011528051.1:p.Gly308Arg, XP_011528053.1:p.Gly308Arg, XP_016883964.1:p.Gly308Arg, XP_016883962.1:p.Gly308Arg, XP_016883965.1:p.Gly308Arg, XP_011528049.1:p.Gly308Arg, XP_011528054.1:p.Gly308Arg, XP_047296951.1:p.Gly308Arg, XP_047296955.1:p.Gly308Arg, XP_047296949.1:p.Gly308Arg, XP_047296952.1:p.Gly308Arg, XP_047296950.1:p.Gly308Arg, XP_047296947.1:p.Gly308Arg, XP_047296946.1:p.Gly308Arg, XP_047296948.1:p.Gly308Arg, XP_047296954.1:p.Gly308Arg, XP_047296953.1:p.Gly308Arg

                                    18.

                                    rs1481690391 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      21:14966259 (GRCh38)
                                      21:16338580 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:14966258:A:G
                                      Gene:
                                      NRIP1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000019/5 (TOPMED)
                                      HGVS:
                                      NC_000021.9:g.14966259A>G, NC_000021.8:g.16338580A>G, NG_050643.1:g.104645T>C, NM_003489.4:c.1934T>C, NM_003489.3:c.1934T>C, XM_005261063.4:c.1934T>C, XM_005261063.3:c.1934T>C, XM_005261063.2:c.1934T>C, XM_005261063.1:c.1934T>C, XM_005261065.4:c.1934T>C, XM_005261065.3:c.1934T>C, XM_005261065.2:c.1934T>C, XM_005261065.1:c.1934T>C, XM_011529748.3:c.1934T>C, XM_011529748.2:c.1934T>C, XM_011529748.1:c.1934T>C, XM_011529749.3:c.1934T>C, XM_011529749.2:c.1934T>C, XM_011529749.1:c.1934T>C, XM_011529751.3:c.1934T>C, XM_011529751.2:c.1934T>C, XM_011529751.1:c.1934T>C, XM_017028475.2:c.1934T>C, XM_017028475.1:c.1934T>C, XM_017028473.2:c.1934T>C, XM_017028473.1:c.1934T>C, XM_017028476.2:c.1934T>C, XM_017028476.1:c.1934T>C, XM_011529747.2:c.1934T>C, XM_011529747.1:c.1934T>C, XM_011529752.2:c.1934T>C, XM_011529752.1:c.1934T>C, XM_047440995.1:c.1934T>C, XM_047440999.1:c.1934T>C, XM_047440993.1:c.1934T>C, XM_047440996.1:c.1934T>C, XM_047440994.1:c.1934T>C, XM_047440991.1:c.1934T>C, XM_047440990.1:c.1934T>C, XM_047440992.1:c.1934T>C, XM_047440998.1:c.1934T>C, XM_047440997.1:c.1934T>C, NP_003480.2:p.Val645Ala, XP_005261120.1:p.Val645Ala, XP_005261122.1:p.Val645Ala, XP_011528050.1:p.Val645Ala, XP_011528051.1:p.Val645Ala, XP_011528053.1:p.Val645Ala, XP_016883964.1:p.Val645Ala, XP_016883962.1:p.Val645Ala, XP_016883965.1:p.Val645Ala, XP_011528049.1:p.Val645Ala, XP_011528054.1:p.Val645Ala, XP_047296951.1:p.Val645Ala, XP_047296955.1:p.Val645Ala, XP_047296949.1:p.Val645Ala, XP_047296952.1:p.Val645Ala, XP_047296950.1:p.Val645Ala, XP_047296947.1:p.Val645Ala, XP_047296946.1:p.Val645Ala, XP_047296948.1:p.Val645Ala, XP_047296954.1:p.Val645Ala, XP_047296953.1:p.Val645Ala

                                      19.

                                      rs1481671210 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        21:14965320 (GRCh38)
                                        21:16337641 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:14965319:G:C
                                        Gene:
                                        NRIP1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_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_000021.9:g.14965320G>C, NC_000021.8:g.16337641G>C, NG_050643.1:g.105584C>G, NM_003489.4:c.2873C>G, NM_003489.3:c.2873C>G, XM_005261063.4:c.2873C>G, XM_005261063.3:c.2873C>G, XM_005261063.2:c.2873C>G, XM_005261063.1:c.2873C>G, XM_005261065.4:c.2873C>G, XM_005261065.3:c.2873C>G, XM_005261065.2:c.2873C>G, XM_005261065.1:c.2873C>G, XM_011529748.3:c.2873C>G, XM_011529748.2:c.2873C>G, XM_011529748.1:c.2873C>G, XM_011529749.3:c.2873C>G, XM_011529749.2:c.2873C>G, XM_011529749.1:c.2873C>G, XM_011529751.3:c.2873C>G, XM_011529751.2:c.2873C>G, XM_011529751.1:c.2873C>G, XM_017028475.2:c.2873C>G, XM_017028475.1:c.2873C>G, XM_017028473.2:c.2873C>G, XM_017028473.1:c.2873C>G, XM_017028476.2:c.2873C>G, XM_017028476.1:c.2873C>G, XM_011529747.2:c.2873C>G, XM_011529747.1:c.2873C>G, XM_011529752.2:c.2873C>G, XM_011529752.1:c.2873C>G, XM_047440995.1:c.2873C>G, XM_047440999.1:c.2873C>G, XM_047440993.1:c.2873C>G, XM_047440996.1:c.2873C>G, XM_047440994.1:c.2873C>G, XM_047440991.1:c.2873C>G, XM_047440990.1:c.2873C>G, XM_047440992.1:c.2873C>G, XM_047440998.1:c.2873C>G, XM_047440997.1:c.2873C>G, NP_003480.2:p.Ala958Gly, XP_005261120.1:p.Ala958Gly, XP_005261122.1:p.Ala958Gly, XP_011528050.1:p.Ala958Gly, XP_011528051.1:p.Ala958Gly, XP_011528053.1:p.Ala958Gly, XP_016883964.1:p.Ala958Gly, XP_016883962.1:p.Ala958Gly, XP_016883965.1:p.Ala958Gly, XP_011528049.1:p.Ala958Gly, XP_011528054.1:p.Ala958Gly, XP_047296951.1:p.Ala958Gly, XP_047296955.1:p.Ala958Gly, XP_047296949.1:p.Ala958Gly, XP_047296952.1:p.Ala958Gly, XP_047296950.1:p.Ala958Gly, XP_047296947.1:p.Ala958Gly, XP_047296946.1:p.Ala958Gly, XP_047296948.1:p.Ala958Gly, XP_047296954.1:p.Ala958Gly, XP_047296953.1:p.Ala958Gly

                                        20.

                                        rs1481612795 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          21:14965644 (GRCh38)
                                          21:16337965 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:14965643:T:C
                                          Gene:
                                          NRIP1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000021.9:g.14965644T>C, NC_000021.8:g.16337965T>C, NG_050643.1:g.105260A>G, NM_003489.4:c.2549A>G, NM_003489.3:c.2549A>G, XM_005261063.4:c.2549A>G, XM_005261063.3:c.2549A>G, XM_005261063.2:c.2549A>G, XM_005261063.1:c.2549A>G, XM_005261065.4:c.2549A>G, XM_005261065.3:c.2549A>G, XM_005261065.2:c.2549A>G, XM_005261065.1:c.2549A>G, XM_011529748.3:c.2549A>G, XM_011529748.2:c.2549A>G, XM_011529748.1:c.2549A>G, XM_011529749.3:c.2549A>G, XM_011529749.2:c.2549A>G, XM_011529749.1:c.2549A>G, XM_011529751.3:c.2549A>G, XM_011529751.2:c.2549A>G, XM_011529751.1:c.2549A>G, XM_017028475.2:c.2549A>G, XM_017028475.1:c.2549A>G, XM_017028473.2:c.2549A>G, XM_017028473.1:c.2549A>G, XM_017028476.2:c.2549A>G, XM_017028476.1:c.2549A>G, XM_011529747.2:c.2549A>G, XM_011529747.1:c.2549A>G, XM_011529752.2:c.2549A>G, XM_011529752.1:c.2549A>G, XM_047440995.1:c.2549A>G, XM_047440999.1:c.2549A>G, XM_047440993.1:c.2549A>G, XM_047440996.1:c.2549A>G, XM_047440994.1:c.2549A>G, XM_047440991.1:c.2549A>G, XM_047440990.1:c.2549A>G, XM_047440992.1:c.2549A>G, XM_047440998.1:c.2549A>G, XM_047440997.1:c.2549A>G, NP_003480.2:p.Lys850Arg, XP_005261120.1:p.Lys850Arg, XP_005261122.1:p.Lys850Arg, XP_011528050.1:p.Lys850Arg, XP_011528051.1:p.Lys850Arg, XP_011528053.1:p.Lys850Arg, XP_016883964.1:p.Lys850Arg, XP_016883962.1:p.Lys850Arg, XP_016883965.1:p.Lys850Arg, XP_011528049.1:p.Lys850Arg, XP_011528054.1:p.Lys850Arg, XP_047296951.1:p.Lys850Arg, XP_047296955.1:p.Lys850Arg, XP_047296949.1:p.Lys850Arg, XP_047296952.1:p.Lys850Arg, XP_047296950.1:p.Lys850Arg, XP_047296947.1:p.Lys850Arg, XP_047296946.1:p.Lys850Arg, XP_047296948.1:p.Lys850Arg, XP_047296954.1:p.Lys850Arg, XP_047296953.1:p.Lys850Arg

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