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Items: 1 to 20 of 366

1.

rs1489450376 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:75921087 (GRCh38)
    4:76842240 (GRCh37)
    Canonical SPDI:
    NC_000004.12:75921086:C:T
    Gene:
    NAAA (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000004.12:g.75921087C>T, NC_000004.11:g.76842240C>T, XM_005262921.5:c.703G>A, XM_005262921.4:c.703G>A, XM_005262921.3:c.703G>A, XM_005262921.2:c.703G>A, XM_005262921.1:c.703G>A, NM_014435.4:c.703G>A, NM_014435.3:c.703G>A, XM_006714180.4:c.703G>A, XM_006714180.3:c.703G>A, XM_006714180.2:c.703G>A, XM_006714180.1:c.703G>A, XM_005262923.4:c.703G>A, XM_005262923.3:c.703G>A, XM_005262923.2:c.703G>A, XM_005262923.1:c.703G>A, XM_005262924.4:c.703G>A, XM_005262924.3:c.703G>A, XM_005262924.2:c.703G>A, XM_005262924.1:c.703G>A, XM_011531854.4:c.703G>A, XM_011531854.3:c.703G>A, XM_011531854.2:c.703G>A, XM_011531854.1:c.703G>A, XM_011531852.4:c.703G>A, XM_011531852.3:c.703G>A, XM_011531852.2:c.703G>A, XM_011531852.1:c.703G>A, XM_017008029.3:c.703G>A, XM_017008029.2:c.703G>A, XM_017008029.1:c.703G>A, XM_017008028.3:c.703G>A, XM_017008028.2:c.703G>A, XM_017008028.1:c.703G>A, XM_017008030.3:c.703G>A, XM_017008030.2:c.703G>A, XM_017008030.1:c.703G>A, NM_001363719.2:c.703G>A, NM_001363719.1:c.703G>A, NM_001042402.2:c.703G>A, NM_001042402.1:c.703G>A, XM_047450067.1:c.703G>A, XP_005262978.1:p.Gly235Ser, NP_055250.2:p.Gly235Ser, XP_006714243.1:p.Gly235Ser, XP_005262980.1:p.Gly235Ser, XP_005262981.1:p.Gly235Ser, XP_011530156.1:p.Gly235Ser, XP_011530154.1:p.Gly235Ser, XP_016863518.1:p.Gly235Ser, XP_016863517.1:p.Gly235Ser, XP_016863519.1:p.Gly235Ser, NP_001350648.1:p.Gly235Ser, NP_001035861.1:p.Gly235Ser, XP_047306023.1:p.Gly235Ser

    2.

    rs1487089746 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      4:75936136 (GRCh38)
      4:76857289 (GRCh37)
      Canonical SPDI:
      NC_000004.12:75936135:C:T
      Gene:
      NAAA (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.75936136C>T, NC_000004.11:g.76857289C>T, XM_005262921.5:c.471G>A, XM_005262921.4:c.471G>A, XM_005262921.3:c.471G>A, XM_005262921.2:c.471G>A, XM_005262921.1:c.471G>A, NM_014435.4:c.471G>A, NM_014435.3:c.471G>A, XM_006714180.4:c.471G>A, XM_006714180.3:c.471G>A, XM_006714180.2:c.471G>A, XM_006714180.1:c.471G>A, XM_005262923.4:c.471G>A, XM_005262923.3:c.471G>A, XM_005262923.2:c.471G>A, XM_005262923.1:c.471G>A, XM_005262924.4:c.471G>A, XM_005262924.3:c.471G>A, XM_005262924.2:c.471G>A, XM_005262924.1:c.471G>A, XM_011531854.4:c.471G>A, XM_011531854.3:c.471G>A, XM_011531854.2:c.471G>A, XM_011531854.1:c.471G>A, XM_011531852.4:c.471G>A, XM_011531852.3:c.471G>A, XM_011531852.2:c.471G>A, XM_011531852.1:c.471G>A, XM_017008029.3:c.471G>A, XM_017008029.2:c.471G>A, XM_017008029.1:c.471G>A, XM_017008028.3:c.471G>A, XM_017008028.2:c.471G>A, XM_017008028.1:c.471G>A, XM_017008030.3:c.471G>A, XM_017008030.2:c.471G>A, XM_017008030.1:c.471G>A, NM_001363719.2:c.471G>A, NM_001363719.1:c.471G>A, NM_001042402.2:c.471G>A, NM_001042402.1:c.471G>A, XM_047450067.1:c.471G>A

      3.

      rs1482858416 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        4:75940762 (GRCh38)
        4:76861915 (GRCh37)
        Canonical SPDI:
        NC_000004.12:75940761:G:A
        Gene:
        NAAA (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000005/1 (GnomAD_exomes)
        A=0.000007/1 (GnomAD)
        A=0.000023/6 (TOPMED)
        HGVS:
        NC_000004.12:g.75940762G>A, NC_000004.11:g.76861915G>A, XM_005262921.5:c.188C>T, XM_005262921.4:c.188C>T, XM_005262921.3:c.188C>T, XM_005262921.2:c.188C>T, XM_005262921.1:c.188C>T, NM_014435.4:c.188C>T, NM_014435.3:c.188C>T, XM_006714180.4:c.188C>T, XM_006714180.3:c.188C>T, XM_006714180.2:c.188C>T, XM_006714180.1:c.188C>T, XM_005262923.4:c.188C>T, XM_005262923.3:c.188C>T, XM_005262923.2:c.188C>T, XM_005262923.1:c.188C>T, XM_005262924.4:c.188C>T, XM_005262924.3:c.188C>T, XM_005262924.2:c.188C>T, XM_005262924.1:c.188C>T, XM_011531854.4:c.188C>T, XM_011531854.3:c.188C>T, XM_011531854.2:c.188C>T, XM_011531854.1:c.188C>T, XM_011531852.4:c.188C>T, XM_011531852.3:c.188C>T, XM_011531852.2:c.188C>T, XM_011531852.1:c.188C>T, XM_017008029.3:c.188C>T, XM_017008029.2:c.188C>T, XM_017008029.1:c.188C>T, XM_017008028.3:c.188C>T, XM_017008028.2:c.188C>T, XM_017008028.1:c.188C>T, XM_017008030.3:c.188C>T, XM_017008030.2:c.188C>T, XM_017008030.1:c.188C>T, NM_001363719.2:c.188C>T, NM_001363719.1:c.188C>T, NM_001042402.2:c.188C>T, NM_001042402.1:c.188C>T, XM_047450067.1:c.188C>T, XP_005262978.1:p.Ala63Val, NP_055250.2:p.Ala63Val, XP_006714243.1:p.Ala63Val, XP_005262980.1:p.Ala63Val, XP_005262981.1:p.Ala63Val, XP_011530156.1:p.Ala63Val, XP_011530154.1:p.Ala63Val, XP_016863518.1:p.Ala63Val, XP_016863517.1:p.Ala63Val, XP_016863519.1:p.Ala63Val, NP_001350648.1:p.Ala63Val, NP_001035861.1:p.Ala63Val, XP_047306023.1:p.Ala63Val

        4.

        rs1482213325 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          4:75940106 (GRCh38)
          4:76861259 (GRCh37)
          Canonical SPDI:
          NC_000004.12:75940105:C:A
          Gene:
          NAAA (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000015/4 (TOPMED)
          HGVS:
          NC_000004.12:g.75940106C>A, NC_000004.11:g.76861259C>A, XM_005262921.5:c.266G>T, XM_005262921.4:c.266G>T, XM_005262921.3:c.266G>T, XM_005262921.2:c.266G>T, XM_005262921.1:c.266G>T, NM_014435.4:c.266G>T, NM_014435.3:c.266G>T, XM_006714180.4:c.266G>T, XM_006714180.3:c.266G>T, XM_006714180.2:c.266G>T, XM_006714180.1:c.266G>T, XM_005262923.4:c.266G>T, XM_005262923.3:c.266G>T, XM_005262923.2:c.266G>T, XM_005262923.1:c.266G>T, XM_005262924.4:c.266G>T, XM_005262924.3:c.266G>T, XM_005262924.2:c.266G>T, XM_005262924.1:c.266G>T, XM_011531854.4:c.266G>T, XM_011531854.3:c.266G>T, XM_011531854.2:c.266G>T, XM_011531854.1:c.266G>T, XM_011531852.4:c.266G>T, XM_011531852.3:c.266G>T, XM_011531852.2:c.266G>T, XM_011531852.1:c.266G>T, XM_017008029.3:c.266G>T, XM_017008029.2:c.266G>T, XM_017008029.1:c.266G>T, XM_017008028.3:c.266G>T, XM_017008028.2:c.266G>T, XM_017008028.1:c.266G>T, XM_017008030.3:c.266G>T, XM_017008030.2:c.266G>T, XM_017008030.1:c.266G>T, NM_001363719.2:c.266G>T, NM_001363719.1:c.266G>T, NM_001042402.2:c.266G>T, NM_001042402.1:c.266G>T, XM_047450067.1:c.266G>T, XP_005262978.1:p.Arg89Leu, NP_055250.2:p.Arg89Leu, XP_006714243.1:p.Arg89Leu, XP_005262980.1:p.Arg89Leu, XP_005262981.1:p.Arg89Leu, XP_011530156.1:p.Arg89Leu, XP_011530154.1:p.Arg89Leu, XP_016863518.1:p.Arg89Leu, XP_016863517.1:p.Arg89Leu, XP_016863519.1:p.Arg89Leu, NP_001350648.1:p.Arg89Leu, NP_001035861.1:p.Arg89Leu, XP_047306023.1:p.Arg89Leu

          5.

          rs1465174962 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            4:75920981 (GRCh38)
            4:76842134 (GRCh37)
            Canonical SPDI:
            NC_000004.12:75920980:T:C
            Gene:
            NAAA (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_000004.12:g.75920981T>C, NC_000004.11:g.76842134T>C, XM_005262921.5:c.809A>G, XM_005262921.4:c.809A>G, XM_005262921.3:c.809A>G, XM_005262921.2:c.809A>G, XM_005262921.1:c.809A>G, NM_014435.4:c.809A>G, NM_014435.3:c.809A>G, XM_006714180.4:c.809A>G, XM_006714180.3:c.809A>G, XM_006714180.2:c.809A>G, XM_006714180.1:c.809A>G, XM_005262923.4:c.809A>G, XM_005262923.3:c.809A>G, XM_005262923.2:c.809A>G, XM_005262923.1:c.809A>G, XM_005262924.4:c.809A>G, XM_005262924.3:c.809A>G, XM_005262924.2:c.809A>G, XM_005262924.1:c.809A>G, XM_011531854.4:c.809A>G, XM_011531854.3:c.809A>G, XM_011531854.2:c.809A>G, XM_011531854.1:c.809A>G, XM_011531852.4:c.809A>G, XM_011531852.3:c.809A>G, XM_011531852.2:c.809A>G, XM_011531852.1:c.809A>G, XM_017008029.3:c.809A>G, XM_017008029.2:c.809A>G, XM_017008029.1:c.809A>G, XM_017008028.3:c.809A>G, XM_017008028.2:c.809A>G, XM_017008028.1:c.809A>G, XM_017008030.3:c.809A>G, XM_017008030.2:c.809A>G, XM_017008030.1:c.809A>G, NM_001363719.2:c.809A>G, NM_001363719.1:c.809A>G, NM_001042402.2:c.809A>G, NM_001042402.1:c.809A>G, XM_047450067.1:c.809A>G, XP_005262978.1:p.Asp270Gly, NP_055250.2:p.Asp270Gly, XP_006714243.1:p.Asp270Gly, XP_005262980.1:p.Asp270Gly, XP_005262981.1:p.Asp270Gly, XP_011530156.1:p.Asp270Gly, XP_011530154.1:p.Asp270Gly, XP_016863518.1:p.Asp270Gly, XP_016863517.1:p.Asp270Gly, XP_016863519.1:p.Asp270Gly, NP_001350648.1:p.Asp270Gly, NP_001035861.1:p.Asp270Gly, XP_047306023.1:p.Asp270Gly

            6.

            rs1462098313 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              4:75919958 (GRCh38)
              4:76841112 (GRCh37)
              Canonical SPDI:
              NC_000004.12:75919958:CC:CCC
              Gene:
              NAAA (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CCC=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000004.12:g.75919960dup, NC_000004.11:g.76841113dup, XM_005262921.5:c.919dup, XM_005262921.4:c.919dup, XM_005262921.3:c.919dup, XM_005262921.2:c.919dup, XM_005262921.1:c.919dup, NM_014435.4:c.919dup, NM_014435.3:c.919dup, XM_006714180.4:c.919dup, XM_006714180.3:c.919dup, XM_006714180.2:c.919dup, XM_006714180.1:c.919dup, XM_005262923.4:c.919dup, XM_005262923.3:c.919dup, XM_005262923.2:c.919dup, XM_005262923.1:c.919dup, XM_005262924.4:c.919dup, XM_005262924.3:c.919dup, XM_005262924.2:c.919dup, XM_005262924.1:c.919dup, XM_011531854.4:c.919dup, XM_011531854.3:c.919dup, XM_011531854.2:c.919dup, XM_011531854.1:c.919dup, XM_011531852.4:c.919dup, XM_011531852.3:c.919dup, XM_011531852.2:c.919dup, XM_011531852.1:c.919dup, XM_017008029.3:c.919dup, XM_017008029.2:c.919dup, XM_017008029.1:c.919dup, XM_017008028.3:c.919dup, XM_017008028.2:c.919dup, XM_017008028.1:c.919dup, XM_017008030.3:c.919dup, XM_017008030.2:c.919dup, XM_017008030.1:c.919dup, NM_001363719.2:c.919dup, NM_001363719.1:c.919dup, NM_001042402.2:c.919dup, NM_001042402.1:c.919dup, XM_047450067.1:c.919dup, XP_005262978.1:p.Ala307fs, NP_055250.2:p.Ala307fs, XP_006714243.1:p.Ala307fs, XP_005262980.1:p.Ala307fs, XP_005262981.1:p.Ala307fs, XP_011530156.1:p.Ala307fs, XP_011530154.1:p.Ala307fs, XP_016863518.1:p.Ala307fs, XP_016863517.1:p.Ala307fs, XP_016863519.1:p.Ala307fs, NP_001350648.1:p.Ala307fs, NP_001035861.1:p.Ala307fs, XP_047306023.1:p.Ala307fs

              7.

              rs1459359500 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:75914910 (GRCh38)
                4:76836063 (GRCh37)
                Canonical SPDI:
                NC_000004.12:75914909:T:C
                Gene:
                NAAA (Varview)
                Functional Consequence:
                coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.0002/1 (ALFA)
                C=0.0002/1 (Estonian)
                HGVS:

                8.

                rs1458605447 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  4:75940899 (GRCh38)
                  4:76862052 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:75940898:C:T
                  Gene:
                  NAAA (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/1 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.75940899C>T, NC_000004.11:g.76862052C>T, XM_005262921.5:c.51G>A, XM_005262921.4:c.51G>A, XM_005262921.3:c.51G>A, XM_005262921.2:c.51G>A, XM_005262921.1:c.51G>A, NM_014435.4:c.51G>A, NM_014435.3:c.51G>A, XM_006714180.4:c.51G>A, XM_006714180.3:c.51G>A, XM_006714180.2:c.51G>A, XM_006714180.1:c.51G>A, XM_005262923.4:c.51G>A, XM_005262923.3:c.51G>A, XM_005262923.2:c.51G>A, XM_005262923.1:c.51G>A, XM_005262924.4:c.51G>A, XM_005262924.3:c.51G>A, XM_005262924.2:c.51G>A, XM_005262924.1:c.51G>A, XM_011531854.4:c.51G>A, XM_011531854.3:c.51G>A, XM_011531854.2:c.51G>A, XM_011531854.1:c.51G>A, XM_011531852.4:c.51G>A, XM_011531852.3:c.51G>A, XM_011531852.2:c.51G>A, XM_011531852.1:c.51G>A, XM_017008029.3:c.51G>A, XM_017008029.2:c.51G>A, XM_017008029.1:c.51G>A, XM_017008028.3:c.51G>A, XM_017008028.2:c.51G>A, XM_017008028.1:c.51G>A, XM_017008030.3:c.51G>A, XM_017008030.2:c.51G>A, XM_017008030.1:c.51G>A, NM_001363719.2:c.51G>A, NM_001363719.1:c.51G>A, NM_001042402.2:c.51G>A, NM_001042402.1:c.51G>A, XM_047450067.1:c.51G>A

                  9.

                  rs1456682889 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GTT>- [Show Flanks]
                    Chromosome:
                    4:75918763 (GRCh38)
                    4:76839916 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:75918760:TTGTT:TT
                    Gene:
                    NAAA (Varview)
                    Functional Consequence:
                    inframe_deletion,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    -=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.75918763_75918765del, NC_000004.11:g.76839916_76839918del, XM_005262921.5:c.996_998del, XM_005262921.4:c.996_998del, XM_005262921.3:c.996_998del, XM_005262921.2:c.996_998del, XM_005262921.1:c.996_998del, NM_014435.4:c.994AAC[1], NM_014435.3:c.994AAC[1], XM_006714180.4:c.996_998del, XM_006714180.3:c.996_998del, XM_006714180.2:c.996_998del, XM_006714180.1:c.996_998del, XM_005262923.4:c.996_998del, XM_005262923.3:c.996_998del, XM_005262923.2:c.996_998del, XM_005262923.1:c.996_998del, XM_011531852.4:c.996_998del, XM_011531852.3:c.996_998del, XM_011531852.2:c.996_998del, XM_011531852.1:c.996_998del, XM_017008029.3:c.996_998del, XM_017008029.2:c.996_998del, XM_017008029.1:c.996_998del, XM_017008028.3:c.994AAC[1], XM_017008028.2:c.994AAC[1], XM_017008028.1:c.994AAC[1], XP_005262978.1:p.Asn333del, NP_055250.2:p.Asn333del, XP_006714243.1:p.Asn333del, XP_005262980.1:p.Asn332del, XP_011530154.1:p.Asn332del, XP_016863518.1:p.Asn333del, XP_016863517.1:p.Asn333del

                    10.

                    rs1453189979 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      4:75921048 (GRCh38)
                      4:76842201 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:75921047:A:G
                      Gene:
                      NAAA (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000004.12:g.75921048A>G, NC_000004.11:g.76842201A>G, XM_005262921.5:c.742T>C, XM_005262921.4:c.742T>C, XM_005262921.3:c.742T>C, XM_005262921.2:c.742T>C, XM_005262921.1:c.742T>C, NM_014435.4:c.742T>C, NM_014435.3:c.742T>C, XM_006714180.4:c.742T>C, XM_006714180.3:c.742T>C, XM_006714180.2:c.742T>C, XM_006714180.1:c.742T>C, XM_005262923.4:c.742T>C, XM_005262923.3:c.742T>C, XM_005262923.2:c.742T>C, XM_005262923.1:c.742T>C, XM_005262924.4:c.742T>C, XM_005262924.3:c.742T>C, XM_005262924.2:c.742T>C, XM_005262924.1:c.742T>C, XM_011531854.4:c.742T>C, XM_011531854.3:c.742T>C, XM_011531854.2:c.742T>C, XM_011531854.1:c.742T>C, XM_011531852.4:c.742T>C, XM_011531852.3:c.742T>C, XM_011531852.2:c.742T>C, XM_011531852.1:c.742T>C, XM_017008029.3:c.742T>C, XM_017008029.2:c.742T>C, XM_017008029.1:c.742T>C, XM_017008028.3:c.742T>C, XM_017008028.2:c.742T>C, XM_017008028.1:c.742T>C, XM_017008030.3:c.742T>C, XM_017008030.2:c.742T>C, XM_017008030.1:c.742T>C, NM_001363719.2:c.742T>C, NM_001363719.1:c.742T>C, NM_001042402.2:c.742T>C, NM_001042402.1:c.742T>C, XM_047450067.1:c.742T>C, XP_005262978.1:p.Tyr248His, NP_055250.2:p.Tyr248His, XP_006714243.1:p.Tyr248His, XP_005262980.1:p.Tyr248His, XP_005262981.1:p.Tyr248His, XP_011530156.1:p.Tyr248His, XP_011530154.1:p.Tyr248His, XP_016863518.1:p.Tyr248His, XP_016863517.1:p.Tyr248His, XP_016863519.1:p.Tyr248His, NP_001350648.1:p.Tyr248His, NP_001035861.1:p.Tyr248His, XP_047306023.1:p.Tyr248His

                      11.

                      rs1452663234 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        4:75920979 (GRCh38)
                        4:76842132 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:75920978:T:C
                        Gene:
                        NAAA (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000594/9 (ALFA)
                        C=0.000057/8 (GnomAD)
                        C=0.002009/9 (Estonian)
                        HGVS:
                        NC_000004.12:g.75920979T>C, NC_000004.11:g.76842132T>C, XM_005262921.5:c.811A>G, XM_005262921.4:c.811A>G, XM_005262921.3:c.811A>G, XM_005262921.2:c.811A>G, XM_005262921.1:c.811A>G, NM_014435.4:c.811A>G, NM_014435.3:c.811A>G, XM_006714180.4:c.811A>G, XM_006714180.3:c.811A>G, XM_006714180.2:c.811A>G, XM_006714180.1:c.811A>G, XM_005262923.4:c.811A>G, XM_005262923.3:c.811A>G, XM_005262923.2:c.811A>G, XM_005262923.1:c.811A>G, XM_005262924.4:c.811A>G, XM_005262924.3:c.811A>G, XM_005262924.2:c.811A>G, XM_005262924.1:c.811A>G, XM_011531854.4:c.811A>G, XM_011531854.3:c.811A>G, XM_011531854.2:c.811A>G, XM_011531854.1:c.811A>G, XM_011531852.4:c.811A>G, XM_011531852.3:c.811A>G, XM_011531852.2:c.811A>G, XM_011531852.1:c.811A>G, XM_017008029.3:c.811A>G, XM_017008029.2:c.811A>G, XM_017008029.1:c.811A>G, XM_017008028.3:c.811A>G, XM_017008028.2:c.811A>G, XM_017008028.1:c.811A>G, XM_017008030.3:c.811A>G, XM_017008030.2:c.811A>G, XM_017008030.1:c.811A>G, NM_001363719.2:c.811A>G, NM_001363719.1:c.811A>G, NM_001042402.2:c.811A>G, NM_001042402.1:c.811A>G, XM_047450067.1:c.811A>G, XP_005262978.1:p.Ile271Val, NP_055250.2:p.Ile271Val, XP_006714243.1:p.Ile271Val, XP_005262980.1:p.Ile271Val, XP_005262981.1:p.Ile271Val, XP_011530156.1:p.Ile271Val, XP_011530154.1:p.Ile271Val, XP_016863518.1:p.Ile271Val, XP_016863517.1:p.Ile271Val, XP_016863519.1:p.Ile271Val, NP_001350648.1:p.Ile271Val, NP_001035861.1:p.Ile271Val, XP_047306023.1:p.Ile271Val

                        12.

                        rs1448595173 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          4:75940920 (GRCh38)
                          4:76862073 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:75940919:C:G,NC_000004.12:75940919:C:T
                          Gene:
                          NAAA (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000004.12:g.75940920C>G, NC_000004.12:g.75940920C>T, NC_000004.11:g.76862073C>G, NC_000004.11:g.76862073C>T, XM_005262921.5:c.30G>C, XM_005262921.5:c.30G>A, XM_005262921.4:c.30G>C, XM_005262921.4:c.30G>A, XM_005262921.3:c.30G>C, XM_005262921.3:c.30G>A, XM_005262921.2:c.30G>C, XM_005262921.2:c.30G>A, XM_005262921.1:c.30G>C, XM_005262921.1:c.30G>A, NM_014435.4:c.30G>C, NM_014435.4:c.30G>A, NM_014435.3:c.30G>C, NM_014435.3:c.30G>A, XM_006714180.4:c.30G>C, XM_006714180.4:c.30G>A, XM_006714180.3:c.30G>C, XM_006714180.3:c.30G>A, XM_006714180.2:c.30G>C, XM_006714180.2:c.30G>A, XM_006714180.1:c.30G>C, XM_006714180.1:c.30G>A, XM_005262923.4:c.30G>C, XM_005262923.4:c.30G>A, XM_005262923.3:c.30G>C, XM_005262923.3:c.30G>A, XM_005262923.2:c.30G>C, XM_005262923.2:c.30G>A, XM_005262923.1:c.30G>C, XM_005262923.1:c.30G>A, XM_005262924.4:c.30G>C, XM_005262924.4:c.30G>A, XM_005262924.3:c.30G>C, XM_005262924.3:c.30G>A, XM_005262924.2:c.30G>C, XM_005262924.2:c.30G>A, XM_005262924.1:c.30G>C, XM_005262924.1:c.30G>A, XM_011531854.4:c.30G>C, XM_011531854.4:c.30G>A, XM_011531854.3:c.30G>C, XM_011531854.3:c.30G>A, XM_011531854.2:c.30G>C, XM_011531854.2:c.30G>A, XM_011531854.1:c.30G>C, XM_011531854.1:c.30G>A, XM_011531852.4:c.30G>C, XM_011531852.4:c.30G>A, XM_011531852.3:c.30G>C, XM_011531852.3:c.30G>A, XM_011531852.2:c.30G>C, XM_011531852.2:c.30G>A, XM_011531852.1:c.30G>C, XM_011531852.1:c.30G>A, XM_017008029.3:c.30G>C, XM_017008029.3:c.30G>A, XM_017008029.2:c.30G>C, XM_017008029.2:c.30G>A, XM_017008029.1:c.30G>C, XM_017008029.1:c.30G>A, XM_017008028.3:c.30G>C, XM_017008028.3:c.30G>A, XM_017008028.2:c.30G>C, XM_017008028.2:c.30G>A, XM_017008028.1:c.30G>C, XM_017008028.1:c.30G>A, XM_017008030.3:c.30G>C, XM_017008030.3:c.30G>A, XM_017008030.2:c.30G>C, XM_017008030.2:c.30G>A, XM_017008030.1:c.30G>C, XM_017008030.1:c.30G>A, NM_001363719.2:c.30G>C, NM_001363719.2:c.30G>A, NM_001363719.1:c.30G>C, NM_001363719.1:c.30G>A, NM_001042402.2:c.30G>C, NM_001042402.2:c.30G>A, NM_001042402.1:c.30G>C, NM_001042402.1:c.30G>A, XM_047450067.1:c.30G>C, XM_047450067.1:c.30G>A

                          13.

                          rs1446694878 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            4:75931274 (GRCh38)
                            4:76852427 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:75931273:A:G
                            Gene:
                            NAAA (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000004.12:g.75931274A>G, NC_000004.11:g.76852427A>G, XM_005262921.5:c.529T>C, XM_005262921.4:c.529T>C, XM_005262921.3:c.529T>C, XM_005262921.2:c.529T>C, XM_005262921.1:c.529T>C, NM_014435.4:c.529T>C, NM_014435.3:c.529T>C, XM_006714180.4:c.529T>C, XM_006714180.3:c.529T>C, XM_006714180.2:c.529T>C, XM_006714180.1:c.529T>C, XM_005262923.4:c.529T>C, XM_005262923.3:c.529T>C, XM_005262923.2:c.529T>C, XM_005262923.1:c.529T>C, XM_005262924.4:c.529T>C, XM_005262924.3:c.529T>C, XM_005262924.2:c.529T>C, XM_005262924.1:c.529T>C, XM_011531854.4:c.529T>C, XM_011531854.3:c.529T>C, XM_011531854.2:c.529T>C, XM_011531854.1:c.529T>C, XM_011531852.4:c.529T>C, XM_011531852.3:c.529T>C, XM_011531852.2:c.529T>C, XM_011531852.1:c.529T>C, XM_017008029.3:c.529T>C, XM_017008029.2:c.529T>C, XM_017008029.1:c.529T>C, XM_017008028.3:c.529T>C, XM_017008028.2:c.529T>C, XM_017008028.1:c.529T>C, XM_017008030.3:c.529T>C, XM_017008030.2:c.529T>C, XM_017008030.1:c.529T>C, NM_001363719.2:c.529T>C, NM_001363719.1:c.529T>C, NM_001042402.2:c.529T>C, NM_001042402.1:c.529T>C, XM_047450067.1:c.529T>C, XP_005262978.1:p.Tyr177His, NP_055250.2:p.Tyr177His, XP_006714243.1:p.Tyr177His, XP_005262980.1:p.Tyr177His, XP_005262981.1:p.Tyr177His, XP_011530156.1:p.Tyr177His, XP_011530154.1:p.Tyr177His, XP_016863518.1:p.Tyr177His, XP_016863517.1:p.Tyr177His, XP_016863519.1:p.Tyr177His, NP_001350648.1:p.Tyr177His, NP_001035861.1:p.Tyr177His, XP_047306023.1:p.Tyr177His

                            14.

                            rs1445776563 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              4:75936153 (GRCh38)
                              4:76857306 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:75936152:A:C
                              Gene:
                              NAAA (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000004.12:g.75936153A>C, NC_000004.11:g.76857306A>C, XM_005262921.5:c.454T>G, XM_005262921.4:c.454T>G, XM_005262921.3:c.454T>G, XM_005262921.2:c.454T>G, XM_005262921.1:c.454T>G, NM_014435.4:c.454T>G, NM_014435.3:c.454T>G, XM_006714180.4:c.454T>G, XM_006714180.3:c.454T>G, XM_006714180.2:c.454T>G, XM_006714180.1:c.454T>G, XM_005262923.4:c.454T>G, XM_005262923.3:c.454T>G, XM_005262923.2:c.454T>G, XM_005262923.1:c.454T>G, XM_005262924.4:c.454T>G, XM_005262924.3:c.454T>G, XM_005262924.2:c.454T>G, XM_005262924.1:c.454T>G, XM_011531854.4:c.454T>G, XM_011531854.3:c.454T>G, XM_011531854.2:c.454T>G, XM_011531854.1:c.454T>G, XM_011531852.4:c.454T>G, XM_011531852.3:c.454T>G, XM_011531852.2:c.454T>G, XM_011531852.1:c.454T>G, XM_017008029.3:c.454T>G, XM_017008029.2:c.454T>G, XM_017008029.1:c.454T>G, XM_017008028.3:c.454T>G, XM_017008028.2:c.454T>G, XM_017008028.1:c.454T>G, XM_017008030.3:c.454T>G, XM_017008030.2:c.454T>G, XM_017008030.1:c.454T>G, NM_001363719.2:c.454T>G, NM_001363719.1:c.454T>G, NM_001042402.2:c.454T>G, NM_001042402.1:c.454T>G, XM_047450067.1:c.454T>G, XP_005262978.1:p.Leu152Val, NP_055250.2:p.Leu152Val, XP_006714243.1:p.Leu152Val, XP_005262980.1:p.Leu152Val, XP_005262981.1:p.Leu152Val, XP_011530156.1:p.Leu152Val, XP_011530154.1:p.Leu152Val, XP_016863518.1:p.Leu152Val, XP_016863517.1:p.Leu152Val, XP_016863519.1:p.Leu152Val, NP_001350648.1:p.Leu152Val, NP_001035861.1:p.Leu152Val, XP_047306023.1:p.Leu152Val

                              15.

                              rs1440334389 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                4:75940076 (GRCh38)
                                4:76861229 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:75940075:A:C
                                Gene:
                                NAAA (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:
                                NC_000004.12:g.75940076A>C, NC_000004.11:g.76861229A>C, XM_005262921.5:c.296T>G, XM_005262921.4:c.296T>G, XM_005262921.3:c.296T>G, XM_005262921.2:c.296T>G, XM_005262921.1:c.296T>G, NM_014435.4:c.296T>G, NM_014435.3:c.296T>G, XM_006714180.4:c.296T>G, XM_006714180.3:c.296T>G, XM_006714180.2:c.296T>G, XM_006714180.1:c.296T>G, XM_005262923.4:c.296T>G, XM_005262923.3:c.296T>G, XM_005262923.2:c.296T>G, XM_005262923.1:c.296T>G, XM_005262924.4:c.296T>G, XM_005262924.3:c.296T>G, XM_005262924.2:c.296T>G, XM_005262924.1:c.296T>G, XM_011531854.4:c.296T>G, XM_011531854.3:c.296T>G, XM_011531854.2:c.296T>G, XM_011531854.1:c.296T>G, XM_011531852.4:c.296T>G, XM_011531852.3:c.296T>G, XM_011531852.2:c.296T>G, XM_011531852.1:c.296T>G, XM_017008029.3:c.296T>G, XM_017008029.2:c.296T>G, XM_017008029.1:c.296T>G, XM_017008028.3:c.296T>G, XM_017008028.2:c.296T>G, XM_017008028.1:c.296T>G, XM_017008030.3:c.296T>G, XM_017008030.2:c.296T>G, XM_017008030.1:c.296T>G, NM_001363719.2:c.296T>G, NM_001363719.1:c.296T>G, NM_001042402.2:c.296T>G, NM_001042402.1:c.296T>G, XM_047450067.1:c.296T>G, XP_005262978.1:p.Ile99Ser, NP_055250.2:p.Ile99Ser, XP_006714243.1:p.Ile99Ser, XP_005262980.1:p.Ile99Ser, XP_005262981.1:p.Ile99Ser, XP_011530156.1:p.Ile99Ser, XP_011530154.1:p.Ile99Ser, XP_016863518.1:p.Ile99Ser, XP_016863517.1:p.Ile99Ser, XP_016863519.1:p.Ile99Ser, NP_001350648.1:p.Ile99Ser, NP_001035861.1:p.Ile99Ser, XP_047306023.1:p.Ile99Ser

                                16.

                                rs1437561925 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  4:75921013 (GRCh38)
                                  4:76842166 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:75921012:C:T
                                  Gene:
                                  NAAA (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000026/7 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.75921013C>T, NC_000004.11:g.76842166C>T, XM_005262921.5:c.777G>A, XM_005262921.4:c.777G>A, XM_005262921.3:c.777G>A, XM_005262921.2:c.777G>A, XM_005262921.1:c.777G>A, NM_014435.4:c.777G>A, NM_014435.3:c.777G>A, XM_006714180.4:c.777G>A, XM_006714180.3:c.777G>A, XM_006714180.2:c.777G>A, XM_006714180.1:c.777G>A, XM_005262923.4:c.777G>A, XM_005262923.3:c.777G>A, XM_005262923.2:c.777G>A, XM_005262923.1:c.777G>A, XM_005262924.4:c.777G>A, XM_005262924.3:c.777G>A, XM_005262924.2:c.777G>A, XM_005262924.1:c.777G>A, XM_011531854.4:c.777G>A, XM_011531854.3:c.777G>A, XM_011531854.2:c.777G>A, XM_011531854.1:c.777G>A, XM_011531852.4:c.777G>A, XM_011531852.3:c.777G>A, XM_011531852.2:c.777G>A, XM_011531852.1:c.777G>A, XM_017008029.3:c.777G>A, XM_017008029.2:c.777G>A, XM_017008029.1:c.777G>A, XM_017008028.3:c.777G>A, XM_017008028.2:c.777G>A, XM_017008028.1:c.777G>A, XM_017008030.3:c.777G>A, XM_017008030.2:c.777G>A, XM_017008030.1:c.777G>A, NM_001363719.2:c.777G>A, NM_001363719.1:c.777G>A, NM_001042402.2:c.777G>A, NM_001042402.1:c.777G>A, XM_047450067.1:c.777G>A

                                  17.

                                  rs1431782063 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    4:75940768 (GRCh38)
                                    4:76861921 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:75940767:C:T
                                    Gene:
                                    NAAA (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000009/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.75940768C>T, NC_000004.11:g.76861921C>T, XM_005262921.5:c.182G>A, XM_005262921.4:c.182G>A, XM_005262921.3:c.182G>A, XM_005262921.2:c.182G>A, XM_005262921.1:c.182G>A, NM_014435.4:c.182G>A, NM_014435.3:c.182G>A, XM_006714180.4:c.182G>A, XM_006714180.3:c.182G>A, XM_006714180.2:c.182G>A, XM_006714180.1:c.182G>A, XM_005262923.4:c.182G>A, XM_005262923.3:c.182G>A, XM_005262923.2:c.182G>A, XM_005262923.1:c.182G>A, XM_005262924.4:c.182G>A, XM_005262924.3:c.182G>A, XM_005262924.2:c.182G>A, XM_005262924.1:c.182G>A, XM_011531854.4:c.182G>A, XM_011531854.3:c.182G>A, XM_011531854.2:c.182G>A, XM_011531854.1:c.182G>A, XM_011531852.4:c.182G>A, XM_011531852.3:c.182G>A, XM_011531852.2:c.182G>A, XM_011531852.1:c.182G>A, XM_017008029.3:c.182G>A, XM_017008029.2:c.182G>A, XM_017008029.1:c.182G>A, XM_017008028.3:c.182G>A, XM_017008028.2:c.182G>A, XM_017008028.1:c.182G>A, XM_017008030.3:c.182G>A, XM_017008030.2:c.182G>A, XM_017008030.1:c.182G>A, NM_001363719.2:c.182G>A, NM_001363719.1:c.182G>A, NM_001042402.2:c.182G>A, NM_001042402.1:c.182G>A, XM_047450067.1:c.182G>A, XP_005262978.1:p.Arg61His, NP_055250.2:p.Arg61His, XP_006714243.1:p.Arg61His, XP_005262980.1:p.Arg61His, XP_005262981.1:p.Arg61His, XP_011530156.1:p.Arg61His, XP_011530154.1:p.Arg61His, XP_016863518.1:p.Arg61His, XP_016863517.1:p.Arg61His, XP_016863519.1:p.Arg61His, NP_001350648.1:p.Arg61His, NP_001035861.1:p.Arg61His, XP_047306023.1:p.Arg61His

                                    18.

                                    rs1428509729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      4:75940832 (GRCh38)
                                      4:76861985 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:75940831:G:A
                                      Gene:
                                      NAAA (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000004.12:g.75940832G>A, NC_000004.11:g.76861985G>A, XM_005262921.5:c.118C>T, XM_005262921.4:c.118C>T, XM_005262921.3:c.118C>T, XM_005262921.2:c.118C>T, XM_005262921.1:c.118C>T, NM_014435.4:c.118C>T, NM_014435.3:c.118C>T, XM_006714180.4:c.118C>T, XM_006714180.3:c.118C>T, XM_006714180.2:c.118C>T, XM_006714180.1:c.118C>T, XM_005262923.4:c.118C>T, XM_005262923.3:c.118C>T, XM_005262923.2:c.118C>T, XM_005262923.1:c.118C>T, XM_005262924.4:c.118C>T, XM_005262924.3:c.118C>T, XM_005262924.2:c.118C>T, XM_005262924.1:c.118C>T, XM_011531854.4:c.118C>T, XM_011531854.3:c.118C>T, XM_011531854.2:c.118C>T, XM_011531854.1:c.118C>T, XM_011531852.4:c.118C>T, XM_011531852.3:c.118C>T, XM_011531852.2:c.118C>T, XM_011531852.1:c.118C>T, XM_017008029.3:c.118C>T, XM_017008029.2:c.118C>T, XM_017008029.1:c.118C>T, XM_017008028.3:c.118C>T, XM_017008028.2:c.118C>T, XM_017008028.1:c.118C>T, XM_017008030.3:c.118C>T, XM_017008030.2:c.118C>T, XM_017008030.1:c.118C>T, NM_001363719.2:c.118C>T, NM_001363719.1:c.118C>T, NM_001042402.2:c.118C>T, NM_001042402.1:c.118C>T, XM_047450067.1:c.118C>T

                                      19.

                                      rs1427732165 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        4:75940766 (GRCh38)
                                        4:76861919 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:75940765:C:G,NC_000004.12:75940765:C:T
                                        Gene:
                                        NAAA (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000111/1 (ALFA)
                                        G=0.000005/1 (GnomAD_exomes)
                                        T=0.000106/2 (TOMMO)
                                        HGVS:
                                        NC_000004.12:g.75940766C>G, NC_000004.12:g.75940766C>T, NC_000004.11:g.76861919C>G, NC_000004.11:g.76861919C>T, XM_005262921.5:c.184G>C, XM_005262921.5:c.184G>A, XM_005262921.4:c.184G>C, XM_005262921.4:c.184G>A, XM_005262921.3:c.184G>C, XM_005262921.3:c.184G>A, XM_005262921.2:c.184G>C, XM_005262921.2:c.184G>A, XM_005262921.1:c.184G>C, XM_005262921.1:c.184G>A, NM_014435.4:c.184G>C, NM_014435.4:c.184G>A, NM_014435.3:c.184G>C, NM_014435.3:c.184G>A, XM_006714180.4:c.184G>C, XM_006714180.4:c.184G>A, XM_006714180.3:c.184G>C, XM_006714180.3:c.184G>A, XM_006714180.2:c.184G>C, XM_006714180.2:c.184G>A, XM_006714180.1:c.184G>C, XM_006714180.1:c.184G>A, XM_005262923.4:c.184G>C, XM_005262923.4:c.184G>A, XM_005262923.3:c.184G>C, XM_005262923.3:c.184G>A, XM_005262923.2:c.184G>C, XM_005262923.2:c.184G>A, XM_005262923.1:c.184G>C, XM_005262923.1:c.184G>A, XM_005262924.4:c.184G>C, XM_005262924.4:c.184G>A, XM_005262924.3:c.184G>C, XM_005262924.3:c.184G>A, XM_005262924.2:c.184G>C, XM_005262924.2:c.184G>A, XM_005262924.1:c.184G>C, XM_005262924.1:c.184G>A, XM_011531854.4:c.184G>C, XM_011531854.4:c.184G>A, XM_011531854.3:c.184G>C, XM_011531854.3:c.184G>A, XM_011531854.2:c.184G>C, XM_011531854.2:c.184G>A, XM_011531854.1:c.184G>C, XM_011531854.1:c.184G>A, XM_011531852.4:c.184G>C, XM_011531852.4:c.184G>A, XM_011531852.3:c.184G>C, XM_011531852.3:c.184G>A, XM_011531852.2:c.184G>C, XM_011531852.2:c.184G>A, XM_011531852.1:c.184G>C, XM_011531852.1:c.184G>A, XM_017008029.3:c.184G>C, XM_017008029.3:c.184G>A, XM_017008029.2:c.184G>C, XM_017008029.2:c.184G>A, XM_017008029.1:c.184G>C, XM_017008029.1:c.184G>A, XM_017008028.3:c.184G>C, XM_017008028.3:c.184G>A, XM_017008028.2:c.184G>C, XM_017008028.2:c.184G>A, XM_017008028.1:c.184G>C, XM_017008028.1:c.184G>A, XM_017008030.3:c.184G>C, XM_017008030.3:c.184G>A, XM_017008030.2:c.184G>C, XM_017008030.2:c.184G>A, XM_017008030.1:c.184G>C, XM_017008030.1:c.184G>A, NM_001363719.2:c.184G>C, NM_001363719.2:c.184G>A, NM_001363719.1:c.184G>C, NM_001363719.1:c.184G>A, NM_001042402.2:c.184G>C, NM_001042402.2:c.184G>A, NM_001042402.1:c.184G>C, NM_001042402.1:c.184G>A, XM_047450067.1:c.184G>C, XM_047450067.1:c.184G>A, XP_005262978.1:p.Ala62Pro, XP_005262978.1:p.Ala62Thr, NP_055250.2:p.Ala62Pro, NP_055250.2:p.Ala62Thr, XP_006714243.1:p.Ala62Pro, XP_006714243.1:p.Ala62Thr, XP_005262980.1:p.Ala62Pro, XP_005262980.1:p.Ala62Thr, XP_005262981.1:p.Ala62Pro, XP_005262981.1:p.Ala62Thr, XP_011530156.1:p.Ala62Pro, XP_011530156.1:p.Ala62Thr, XP_011530154.1:p.Ala62Pro, XP_011530154.1:p.Ala62Thr, XP_016863518.1:p.Ala62Pro, XP_016863518.1:p.Ala62Thr, XP_016863517.1:p.Ala62Pro, XP_016863517.1:p.Ala62Thr, XP_016863519.1:p.Ala62Pro, XP_016863519.1:p.Ala62Thr, NP_001350648.1:p.Ala62Pro, NP_001350648.1:p.Ala62Thr, NP_001035861.1:p.Ala62Pro, NP_001035861.1:p.Ala62Thr, XP_047306023.1:p.Ala62Pro, XP_047306023.1:p.Ala62Thr

                                        20.

                                        rs1424693180 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:75914929 (GRCh38)
                                          4:76836082 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:75914928:C:G
                                          Gene:
                                          NAAA (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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