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Items: 1 to 20 of 188

1.

rs1489195805 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->AGCGAGAAGAGCTTC [Show Flanks]
    Chromosome:
    17:46932160 (GRCh38)
    17:45009527 (GRCh37)
    Canonical SPDI:
    NC_000017.11:46932160:CAGCGAGAAGAGCTTC:CAGCGAGAAGAGCTTCAGCGAGAAGAGCTTC
    Gene:
    GOSR2 (Varview), LRRC37A2 (Varview)
    Functional Consequence:
    coding_sequence_variant,inframe_insertion,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    CAGCGAGAAGAGCTT=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.46932162_46932176dup, NC_000017.10:g.45009528_45009542dup, NG_031806.2:g.14043_14057dup, NM_004287.5:c.299_313dup, NM_004287.4:c.299_313dup, NM_004287.3:c.299_313dup, NM_054022.4:c.299_313dup, NM_054022.3:c.299_313dup, NM_054022.2:c.299_313dup, NM_001012511.3:c.299_313dup, NM_001012511.2:c.299_313dup, NM_001012511.1:c.299_313dup, NM_001363851.2:c.245_259dup, NM_001363851.1:c.245_259dup, NM_001353114.2:c.296_310dup, NM_001353114.1:c.296_310dup, NM_001321134.2:c.245_259dup, NM_001321134.1:c.245_259dup, NM_001330252.2:c.299_313dup, NM_001330252.1:c.299_313dup, NM_001353115.2:c.296_310dup, NM_001353115.1:c.296_310dup, NR_148349.2:n.332_346dup, NR_148349.1:n.375_389dup, NR_148350.2:n.332_346dup, NR_148350.1:n.375_389dup, NM_001353116.2:c.296_310dup, NM_001353116.1:c.296_310dup, NR_148351.2:n.332_346dup, NR_148351.1:n.375_389dup, NM_001321133.2:c.299_313dup, NM_001321133.1:c.299_313dup, XM_006722190.5:c.299_313dup, XM_006722190.4:c.299_313dup, XM_006722190.3:c.299_313dup, XM_006722190.2:c.299_313dup, XM_006722190.1:c.299_313dup, XM_011525501.4:c.299_313dup, XM_011525501.3:c.299_313dup, XM_011525501.2:c.299_313dup, XM_011525501.1:c.299_313dup, XR_934616.4:n.332_346dup, XR_934616.3:n.359_373dup, XR_934616.2:n.384_398dup, XR_934616.1:n.378_392dup, XM_011525502.4:c.299_313dup, XM_011525502.3:c.299_313dup, XM_011525502.2:c.299_313dup, XM_011525502.1:c.299_313dup, XM_017025383.3:c.299_313dup, XM_017025383.2:c.299_313dup, XM_017025383.1:c.299_313dup, XM_017025389.2:c.245_259dup, XM_017025389.1:c.245_259dup, XM_017025392.2:c.299_313dup, XM_017025392.1:c.299_313dup, XM_017025378.2:c.296_310dup, XM_017025378.1:c.296_310dup, XM_017025386.2:c.299_313dup, XM_017025386.1:c.299_313dup, XM_017025387.2:c.296_310dup, XM_017025387.1:c.296_310dup, XM_047437114.1:c.245_259dup, XM_047437115.1:c.242_256dup, XM_047437112.1:c.299_313dup, XM_047437113.1:c.296_310dup, XR_007065552.1:n.332_346dup, XM_047437117.1:c.299_313dup, XM_047437118.1:c.296_310dup, XM_047437116.1:c.299_313dup, XR_007065553.1:n.332_346dup, XM_047437120.1:c.299_313dup, XM_047437119.1:c.299_313dup, NP_004278.2:p.Gln100_Leu104dup, NP_473363.1:p.Gln100_Leu104dup, NP_001012529.1:p.Gln100_Leu104dup, NP_001350780.1:p.Gln82_Leu86dup, NP_001340043.1:p.Gln99_Leu103dup, NP_001308063.1:p.Gln82_Leu86dup, NP_001317181.1:p.Gln100_Leu104dup, NP_001340044.1:p.Gln99_Leu103dup, NP_001340045.1:p.Gln99_Leu103dup, NP_001308062.1:p.Gln100_Leu104dup, XP_006722253.1:p.Gln100_Leu104dup, XP_011523803.1:p.Gln100_Leu104dup, XP_011523804.1:p.Gln100_Leu104dup, XP_016880872.1:p.Gln100_Leu104dup, XP_016880878.2:p.Gln82_Leu86dup, XP_016880881.1:p.Gln100_Leu104dup, XP_016880867.1:p.Gln99_Leu103dup, XP_016880875.1:p.Gln100_Leu104dup, XP_016880876.1:p.Gln99_Leu103dup, XP_047293070.1:p.Gln82_Leu86dup, XP_047293071.1:p.Gln81_Leu85dup, XP_047293068.1:p.Gln100_Leu104dup, XP_047293069.1:p.Gln99_Leu103dup, XP_047293073.1:p.Gln100_Leu104dup, XP_047293074.1:p.Gln99_Leu103dup, XP_047293072.1:p.Gln100_Leu104dup, XP_047293076.1:p.Gln100_Leu104dup, XP_047293075.1:p.Gln100_Leu104dup

    2.

    rs1476244562 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      17:46938599 (GRCh38)
      17:45015965 (GRCh37)
      Canonical SPDI:
      NC_000017.11:46938598:G:C
      Gene:
      GOSR2 (Varview), LRRC37A2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.46938599G>C, NC_000017.10:g.45015965G>C, NG_031806.2:g.20480G>C, NM_004287.5:c.478G>C, NM_004287.4:c.478G>C, NM_004287.3:c.478G>C, NM_054022.4:c.478G>C, NM_054022.3:c.478G>C, NM_054022.2:c.478G>C, NM_001363851.2:c.424G>C, NM_001363851.1:c.424G>C, NM_001353114.2:c.475G>C, NM_001353114.1:c.475G>C, NM_001321134.2:c.283G>C, NM_001321134.1:c.283G>C, NM_001330252.2:c.337G>C, NM_001330252.1:c.337G>C, NM_001353115.2:c.334G>C, NM_001353115.1:c.334G>C, NR_148349.2:n.511G>C, NR_148349.1:n.554G>C, NR_148350.2:n.370G>C, NR_148350.1:n.413G>C, NM_001353116.2:c.334G>C, NM_001353116.1:c.334G>C, NR_148351.2:n.370G>C, NR_148351.1:n.413G>C, NM_001321133.2:c.478G>C, NM_001321133.1:c.478G>C, XM_006722190.5:c.478G>C, XM_006722190.4:c.478G>C, XM_006722190.3:c.478G>C, XM_006722190.2:c.478G>C, XM_006722190.1:c.478G>C, XM_011525501.4:c.478G>C, XM_011525501.3:c.478G>C, XM_011525501.2:c.478G>C, XM_011525501.1:c.478G>C, XR_934616.4:n.511G>C, XR_934616.3:n.538G>C, XR_934616.2:n.563G>C, XR_934616.1:n.557G>C, XM_011525502.4:c.478G>C, XM_011525502.3:c.478G>C, XM_011525502.2:c.478G>C, XM_011525502.1:c.478G>C, XM_017025383.3:c.478G>C, XM_017025383.2:c.478G>C, XM_017025383.1:c.478G>C, XM_017025389.2:c.424G>C, XM_017025389.1:c.424G>C, XM_017025392.2:c.337G>C, XM_017025392.1:c.337G>C, XM_017025378.2:c.475G>C, XM_017025378.1:c.475G>C, XM_017025386.2:c.337G>C, XM_017025386.1:c.337G>C, XM_017025387.2:c.334G>C, XM_017025387.1:c.334G>C, XM_047437114.1:c.424G>C, XM_047437115.1:c.421G>C, XM_047437112.1:c.478G>C, XM_047437113.1:c.475G>C, XR_007065552.1:n.511G>C, XM_047437117.1:c.337G>C, XM_047437118.1:c.334G>C, XM_047437116.1:c.478G>C, XR_007065553.1:n.511G>C, XM_047437120.1:c.337G>C, XM_047437119.1:c.478G>C, NP_004278.2:p.Gly160Arg, NP_473363.1:p.Gly160Arg, NP_001350780.1:p.Gly142Arg, NP_001340043.1:p.Gly159Arg, NP_001308063.1:p.Gly95Arg, NP_001317181.1:p.Gly113Arg, NP_001340044.1:p.Gly112Arg, NP_001340045.1:p.Gly112Arg, NP_001308062.1:p.Gly160Arg, XP_006722253.1:p.Gly160Arg, XP_011523803.1:p.Gly160Arg, XP_011523804.1:p.Gly160Arg, XP_016880872.1:p.Gly160Arg, XP_016880878.2:p.Gly142Arg, XP_016880881.1:p.Gly113Arg, XP_016880867.1:p.Gly159Arg, XP_016880875.1:p.Gly113Arg, XP_016880876.1:p.Gly112Arg, XP_047293070.1:p.Gly142Arg, XP_047293071.1:p.Gly141Arg, XP_047293068.1:p.Gly160Arg, XP_047293069.1:p.Gly159Arg, XP_047293073.1:p.Gly113Arg, XP_047293074.1:p.Gly112Arg, XP_047293072.1:p.Gly160Arg, XP_047293076.1:p.Gly113Arg, XP_047293075.1:p.Gly160Arg

      3.

      rs1467890727 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:46931181 (GRCh38)
        17:45008547 (GRCh37)
        Canonical SPDI:
        NC_000017.11:46931180:C:T
        Gene:
        GOSR2 (Varview), LRRC37A2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000015/4 (TOPMED)
        T=0.000035/1 (TOMMO)
        HGVS:
        NC_000017.11:g.46931181C>T, NC_000017.10:g.45008547C>T, NG_031806.2:g.13062C>T, NM_004287.5:c.177C>T, NM_004287.4:c.177C>T, NM_004287.3:c.177C>T, NM_054022.4:c.177C>T, NM_054022.3:c.177C>T, NM_054022.2:c.177C>T, NM_001012511.3:c.177C>T, NM_001012511.2:c.177C>T, NM_001012511.1:c.177C>T, NM_001363851.2:c.123C>T, NM_001363851.1:c.123C>T, NM_001353114.2:c.174C>T, NM_001353114.1:c.174C>T, NM_001321134.2:c.123C>T, NM_001321134.1:c.123C>T, NM_001330252.2:c.177C>T, NM_001330252.1:c.177C>T, NM_001353115.2:c.174C>T, NM_001353115.1:c.174C>T, NR_148349.2:n.210C>T, NR_148349.1:n.253C>T, NR_148350.2:n.210C>T, NR_148350.1:n.253C>T, NM_001353116.2:c.174C>T, NM_001353116.1:c.174C>T, NR_148351.2:n.210C>T, NR_148351.1:n.253C>T, NM_001321133.2:c.177C>T, NM_001321133.1:c.177C>T, XM_006722190.5:c.177C>T, XM_006722190.4:c.177C>T, XM_006722190.3:c.177C>T, XM_006722190.2:c.177C>T, XM_006722190.1:c.177C>T, XM_011525501.4:c.177C>T, XM_011525501.3:c.177C>T, XM_011525501.2:c.177C>T, XM_011525501.1:c.177C>T, XR_934616.4:n.210C>T, XR_934616.3:n.237C>T, XR_934616.2:n.262C>T, XR_934616.1:n.256C>T, XM_011525502.4:c.177C>T, XM_011525502.3:c.177C>T, XM_011525502.2:c.177C>T, XM_011525502.1:c.177C>T, XM_017025383.3:c.177C>T, XM_017025383.2:c.177C>T, XM_017025383.1:c.177C>T, XM_017025389.2:c.123C>T, XM_017025389.1:c.123C>T, XM_017025392.2:c.177C>T, XM_017025392.1:c.177C>T, XM_017025378.2:c.174C>T, XM_017025378.1:c.174C>T, XM_017025386.2:c.177C>T, XM_017025386.1:c.177C>T, XM_017025387.2:c.174C>T, XM_017025387.1:c.174C>T, XM_047437114.1:c.123C>T, XM_047437115.1:c.120C>T, XM_047437112.1:c.177C>T, XM_047437113.1:c.174C>T, XR_007065552.1:n.210C>T, XM_047437117.1:c.177C>T, XM_047437118.1:c.174C>T, XM_047437116.1:c.177C>T, XR_007065553.1:n.210C>T, XM_047437120.1:c.177C>T, XM_047437119.1:c.177C>T

        4.

        rs1467643177 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          17:46938743 (GRCh38)
          17:45016109 (GRCh37)
          Canonical SPDI:
          NC_000017.11:46938742:G:A,NC_000017.11:46938742:G:T
          Gene:
          GOSR2 (Varview), LRRC37A2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.46938743G>A, NC_000017.11:g.46938743G>T, NC_000017.10:g.45016109G>A, NC_000017.10:g.45016109G>T, NG_031806.2:g.20624G>A, NG_031806.2:g.20624G>T, NM_004287.5:c.622G>A, NM_004287.5:c.622G>T, NM_004287.4:c.622G>A, NM_004287.4:c.622G>T, NM_004287.3:c.622G>A, NM_004287.3:c.622G>T, NM_001363851.2:c.568G>A, NM_001363851.2:c.568G>T, NM_001363851.1:c.568G>A, NM_001363851.1:c.568G>T, NM_001353114.2:c.619G>A, NM_001353114.2:c.619G>T, NM_001353114.1:c.619G>A, NM_001353114.1:c.619G>T, NM_001321134.2:c.427G>A, NM_001321134.2:c.427G>T, NM_001321134.1:c.427G>A, NM_001321134.1:c.427G>T, NM_001330252.2:c.481G>A, NM_001330252.2:c.481G>T, NM_001330252.1:c.481G>A, NM_001330252.1:c.481G>T, NM_001353115.2:c.478G>A, NM_001353115.2:c.478G>T, NM_001353115.1:c.478G>A, NM_001353115.1:c.478G>T, NP_004278.2:p.Val208Met, NP_004278.2:p.Val208Leu, NP_001350780.1:p.Val190Met, NP_001350780.1:p.Val190Leu, NP_001340043.1:p.Val207Met, NP_001340043.1:p.Val207Leu, NP_001308063.1:p.Val143Met, NP_001308063.1:p.Val143Leu, NP_001317181.1:p.Val161Met, NP_001317181.1:p.Val161Leu, NP_001340044.1:p.Val160Met, NP_001340044.1:p.Val160Leu

          5.

          rs1466441723 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:46929572 (GRCh38)
            17:45006938 (GRCh37)
            Canonical SPDI:
            NC_000017.11:46929571:C:T
            Gene:
            GOSR2 (Varview), LRRC37A2 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained,intron_variant,coding_sequence_variant
            Clinical significance:
            pathogenic
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.46929572C>T, NC_000017.10:g.45006938C>T, NG_031806.2:g.11453C>T, NM_004287.5:c.82C>T, NM_004287.4:c.82C>T, NM_004287.3:c.82C>T, NM_054022.4:c.82C>T, NM_054022.3:c.82C>T, NM_054022.2:c.82C>T, NM_001012511.3:c.82C>T, NM_001012511.2:c.82C>T, NM_001012511.1:c.82C>T, NM_001363851.2:c.28C>T, NM_001363851.1:c.28C>T, NM_001353114.2:c.82C>T, NM_001353114.1:c.82C>T, NM_001321134.2:c.28C>T, NM_001321134.1:c.28C>T, NM_001330252.2:c.82C>T, NM_001330252.1:c.82C>T, NM_001353115.2:c.82C>T, NM_001353115.1:c.82C>T, NR_148349.2:n.115C>T, NR_148349.1:n.158C>T, NR_148350.2:n.115C>T, NR_148350.1:n.158C>T, NM_001353116.2:c.82C>T, NM_001353116.1:c.82C>T, NR_148351.2:n.115C>T, NR_148351.1:n.158C>T, NM_001321133.2:c.82C>T, NM_001321133.1:c.82C>T, XM_006722190.5:c.82C>T, XM_006722190.4:c.82C>T, XM_006722190.3:c.82C>T, XM_006722190.2:c.82C>T, XM_006722190.1:c.82C>T, XM_011525501.4:c.82C>T, XM_011525501.3:c.82C>T, XM_011525501.2:c.82C>T, XM_011525501.1:c.82C>T, XR_934616.4:n.115C>T, XR_934616.3:n.142C>T, XR_934616.2:n.167C>T, XR_934616.1:n.161C>T, XM_011525502.4:c.82C>T, XM_011525502.3:c.82C>T, XM_011525502.2:c.82C>T, XM_011525502.1:c.82C>T, XM_017025383.3:c.82C>T, XM_017025383.2:c.82C>T, XM_017025383.1:c.82C>T, XM_017025389.2:c.28C>T, XM_017025389.1:c.28C>T, XM_017025392.2:c.82C>T, XM_017025392.1:c.82C>T, XM_017025378.2:c.82C>T, XM_017025378.1:c.82C>T, XM_017025386.2:c.82C>T, XM_017025386.1:c.82C>T, XM_017025387.2:c.82C>T, XM_017025387.1:c.82C>T, XM_047437114.1:c.28C>T, XM_047437115.1:c.28C>T, XM_047437112.1:c.82C>T, XM_047437113.1:c.82C>T, XR_007065552.1:n.115C>T, XM_047437117.1:c.82C>T, XM_047437118.1:c.82C>T, XM_047437116.1:c.82C>T, XR_007065553.1:n.115C>T, XM_047437120.1:c.82C>T, XM_047437119.1:c.82C>T, NP_004278.2:p.Gln28Ter, NP_473363.1:p.Gln28Ter, NP_001012529.1:p.Gln28Ter, NP_001350780.1:p.Gln10Ter, NP_001340043.1:p.Gln28Ter, NP_001308063.1:p.Gln10Ter, NP_001317181.1:p.Gln28Ter, NP_001340044.1:p.Gln28Ter, NP_001340045.1:p.Gln28Ter, NP_001308062.1:p.Gln28Ter, XP_006722253.1:p.Gln28Ter, XP_011523803.1:p.Gln28Ter, XP_011523804.1:p.Gln28Ter, XP_016880872.1:p.Gln28Ter, XP_016880878.2:p.Gln10Ter, XP_016880881.1:p.Gln28Ter, XP_016880867.1:p.Gln28Ter, XP_016880875.1:p.Gln28Ter, XP_016880876.1:p.Gln28Ter, XP_047293070.1:p.Gln10Ter, XP_047293071.1:p.Gln10Ter, XP_047293068.1:p.Gln28Ter, XP_047293069.1:p.Gln28Ter, XP_047293073.1:p.Gln28Ter, XP_047293074.1:p.Gln28Ter, XP_047293072.1:p.Gln28Ter, XP_047293076.1:p.Gln28Ter, XP_047293075.1:p.Gln28Ter

            6.

            rs1463345334 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G,T [Show Flanks]
              Chromosome:
              17:46938736 (GRCh38)
              17:45016102 (GRCh37)
              Canonical SPDI:
              NC_000017.11:46938735:C:G,NC_000017.11:46938735:C:T
              Gene:
              GOSR2 (Varview), LRRC37A2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000102/2 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.46938736C>G, NC_000017.11:g.46938736C>T, NC_000017.10:g.45016102C>G, NC_000017.10:g.45016102C>T, NG_031806.2:g.20617C>G, NG_031806.2:g.20617C>T, NM_004287.5:c.615C>G, NM_004287.5:c.615C>T, NM_004287.4:c.615C>G, NM_004287.4:c.615C>T, NM_004287.3:c.615C>G, NM_004287.3:c.615C>T, NM_001363851.2:c.561C>G, NM_001363851.2:c.561C>T, NM_001363851.1:c.561C>G, NM_001363851.1:c.561C>T, NM_001353114.2:c.612C>G, NM_001353114.2:c.612C>T, NM_001353114.1:c.612C>G, NM_001353114.1:c.612C>T, NM_001321134.2:c.420C>G, NM_001321134.2:c.420C>T, NM_001321134.1:c.420C>G, NM_001321134.1:c.420C>T, NM_001330252.2:c.474C>G, NM_001330252.2:c.474C>T, NM_001330252.1:c.474C>G, NM_001330252.1:c.474C>T, NM_001353115.2:c.471C>G, NM_001353115.2:c.471C>T, NM_001353115.1:c.471C>G, NM_001353115.1:c.471C>T, NP_004278.2:p.Phe205Leu, NP_001350780.1:p.Phe187Leu, NP_001340043.1:p.Phe204Leu, NP_001308063.1:p.Phe140Leu, NP_001317181.1:p.Phe158Leu, NP_001340044.1:p.Phe157Leu

              7.

              rs1448526676 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:46938665 (GRCh38)
                17:45016031 (GRCh37)
                Canonical SPDI:
                NC_000017.11:46938664:A:G
                Gene:
                GOSR2 (Varview), LRRC37A2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000017.11:g.46938665A>G, NC_000017.10:g.45016031A>G, NG_031806.2:g.20546A>G, NM_004287.5:c.544A>G, NM_004287.4:c.544A>G, NM_004287.3:c.544A>G, NM_054022.4:c.544A>G, NM_054022.3:c.544A>G, NM_054022.2:c.544A>G, NM_001363851.2:c.490A>G, NM_001363851.1:c.490A>G, NM_001353114.2:c.541A>G, NM_001353114.1:c.541A>G, NM_001321134.2:c.349A>G, NM_001321134.1:c.349A>G, NM_001330252.2:c.403A>G, NM_001330252.1:c.403A>G, NM_001353115.2:c.400A>G, NM_001353115.1:c.400A>G, NR_148349.2:n.577A>G, NR_148349.1:n.620A>G, NR_148350.2:n.436A>G, NR_148350.1:n.479A>G, NM_001353116.2:c.400A>G, NM_001353116.1:c.400A>G, NR_148351.2:n.436A>G, NR_148351.1:n.479A>G, NM_001321133.2:c.544A>G, NM_001321133.1:c.544A>G, XM_006722190.5:c.544A>G, XM_006722190.4:c.544A>G, XM_006722190.3:c.544A>G, XM_006722190.2:c.544A>G, XM_006722190.1:c.544A>G, XM_011525501.4:c.544A>G, XM_011525501.3:c.544A>G, XM_011525501.2:c.544A>G, XM_011525501.1:c.544A>G, XR_934616.4:n.577A>G, XR_934616.3:n.604A>G, XR_934616.2:n.629A>G, XR_934616.1:n.623A>G, XM_011525502.4:c.544A>G, XM_011525502.3:c.544A>G, XM_011525502.2:c.544A>G, XM_011525502.1:c.544A>G, XM_017025383.3:c.544A>G, XM_017025383.2:c.544A>G, XM_017025383.1:c.544A>G, XM_017025389.2:c.490A>G, XM_017025389.1:c.490A>G, XM_017025392.2:c.403A>G, XM_017025392.1:c.403A>G, XM_017025378.2:c.541A>G, XM_017025378.1:c.541A>G, XM_017025386.2:c.403A>G, XM_017025386.1:c.403A>G, XM_017025387.2:c.400A>G, XM_017025387.1:c.400A>G, XM_047437114.1:c.490A>G, XM_047437115.1:c.487A>G, XM_047437112.1:c.544A>G, XM_047437113.1:c.541A>G, XR_007065552.1:n.577A>G, XM_047437117.1:c.403A>G, XM_047437118.1:c.400A>G, XM_047437116.1:c.544A>G, XR_007065553.1:n.577A>G, XM_047437120.1:c.403A>G, XM_047437119.1:c.544A>G, NP_004278.2:p.Ile182Val, NP_473363.1:p.Ile182Val, NP_001350780.1:p.Ile164Val, NP_001340043.1:p.Ile181Val, NP_001308063.1:p.Ile117Val, NP_001317181.1:p.Ile135Val, NP_001340044.1:p.Ile134Val, NP_001340045.1:p.Ile134Val, NP_001308062.1:p.Ile182Val, XP_006722253.1:p.Ile182Val, XP_011523803.1:p.Ile182Val, XP_011523804.1:p.Ile182Val, XP_016880872.1:p.Ile182Val, XP_016880878.2:p.Ile164Val, XP_016880881.1:p.Ile135Val, XP_016880867.1:p.Ile181Val, XP_016880875.1:p.Ile135Val, XP_016880876.1:p.Ile134Val, XP_047293070.1:p.Ile164Val, XP_047293071.1:p.Ile163Val, XP_047293068.1:p.Ile182Val, XP_047293069.1:p.Ile181Val, XP_047293073.1:p.Ile135Val, XP_047293074.1:p.Ile134Val, XP_047293072.1:p.Ile182Val, XP_047293076.1:p.Ile135Val, XP_047293075.1:p.Ile182Val

                8.

                rs1433254906 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  17:46938645 (GRCh38)
                  17:45016011 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:46938644:C:A,NC_000017.11:46938644:C:T
                  Gene:
                  GOSR2 (Varview), LRRC37A2 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000094/1 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000017.11:g.46938645C>A, NC_000017.11:g.46938645C>T, NC_000017.10:g.45016011C>A, NC_000017.10:g.45016011C>T, NG_031806.2:g.20526C>A, NG_031806.2:g.20526C>T, NM_004287.5:c.524C>A, NM_004287.5:c.524C>T, NM_004287.4:c.524C>A, NM_004287.4:c.524C>T, NM_004287.3:c.524C>A, NM_004287.3:c.524C>T, NM_054022.4:c.524C>A, NM_054022.4:c.524C>T, NM_054022.3:c.524C>A, NM_054022.3:c.524C>T, NM_054022.2:c.524C>A, NM_054022.2:c.524C>T, NM_001363851.2:c.470C>A, NM_001363851.2:c.470C>T, NM_001363851.1:c.470C>A, NM_001363851.1:c.470C>T, NM_001353114.2:c.521C>A, NM_001353114.2:c.521C>T, NM_001353114.1:c.521C>A, NM_001353114.1:c.521C>T, NM_001321134.2:c.329C>A, NM_001321134.2:c.329C>T, NM_001321134.1:c.329C>A, NM_001321134.1:c.329C>T, NM_001330252.2:c.383C>A, NM_001330252.2:c.383C>T, NM_001330252.1:c.383C>A, NM_001330252.1:c.383C>T, NM_001353115.2:c.380C>A, NM_001353115.2:c.380C>T, NM_001353115.1:c.380C>A, NM_001353115.1:c.380C>T, NR_148349.2:n.557C>A, NR_148349.2:n.557C>T, NR_148349.1:n.600C>A, NR_148349.1:n.600C>T, NR_148350.2:n.416C>A, NR_148350.2:n.416C>T, NR_148350.1:n.459C>A, NR_148350.1:n.459C>T, NM_001353116.2:c.380C>A, NM_001353116.2:c.380C>T, NM_001353116.1:c.380C>A, NM_001353116.1:c.380C>T, NR_148351.2:n.416C>A, NR_148351.2:n.416C>T, NR_148351.1:n.459C>A, NR_148351.1:n.459C>T, NM_001321133.2:c.524C>A, NM_001321133.2:c.524C>T, NM_001321133.1:c.524C>A, NM_001321133.1:c.524C>T, XM_006722190.5:c.524C>A, XM_006722190.5:c.524C>T, XM_006722190.4:c.524C>A, XM_006722190.4:c.524C>T, XM_006722190.3:c.524C>A, XM_006722190.3:c.524C>T, XM_006722190.2:c.524C>A, XM_006722190.2:c.524C>T, XM_006722190.1:c.524C>A, XM_006722190.1:c.524C>T, XM_011525501.4:c.524C>A, XM_011525501.4:c.524C>T, XM_011525501.3:c.524C>A, XM_011525501.3:c.524C>T, XM_011525501.2:c.524C>A, XM_011525501.2:c.524C>T, XM_011525501.1:c.524C>A, XM_011525501.1:c.524C>T, XR_934616.4:n.557C>A, XR_934616.4:n.557C>T, XR_934616.3:n.584C>A, XR_934616.3:n.584C>T, XR_934616.2:n.609C>A, XR_934616.2:n.609C>T, XR_934616.1:n.603C>A, XR_934616.1:n.603C>T, XM_011525502.4:c.524C>A, XM_011525502.4:c.524C>T, XM_011525502.3:c.524C>A, XM_011525502.3:c.524C>T, XM_011525502.2:c.524C>A, XM_011525502.2:c.524C>T, XM_011525502.1:c.524C>A, XM_011525502.1:c.524C>T, XM_017025383.3:c.524C>A, XM_017025383.3:c.524C>T, XM_017025383.2:c.524C>A, XM_017025383.2:c.524C>T, XM_017025383.1:c.524C>A, XM_017025383.1:c.524C>T, XM_017025389.2:c.470C>A, XM_017025389.2:c.470C>T, XM_017025389.1:c.470C>A, XM_017025389.1:c.470C>T, XM_017025392.2:c.383C>A, XM_017025392.2:c.383C>T, XM_017025392.1:c.383C>A, XM_017025392.1:c.383C>T, XM_017025378.2:c.521C>A, XM_017025378.2:c.521C>T, XM_017025378.1:c.521C>A, XM_017025378.1:c.521C>T, XM_017025386.2:c.383C>A, XM_017025386.2:c.383C>T, XM_017025386.1:c.383C>A, XM_017025386.1:c.383C>T, XM_017025387.2:c.380C>A, XM_017025387.2:c.380C>T, XM_017025387.1:c.380C>A, XM_017025387.1:c.380C>T, XM_047437114.1:c.470C>A, XM_047437114.1:c.470C>T, XM_047437115.1:c.467C>A, XM_047437115.1:c.467C>T, XM_047437112.1:c.524C>A, XM_047437112.1:c.524C>T, XM_047437113.1:c.521C>A, XM_047437113.1:c.521C>T, XR_007065552.1:n.557C>A, XR_007065552.1:n.557C>T, XM_047437117.1:c.383C>A, XM_047437117.1:c.383C>T, XM_047437118.1:c.380C>A, XM_047437118.1:c.380C>T, XM_047437116.1:c.524C>A, XM_047437116.1:c.524C>T, XR_007065553.1:n.557C>A, XR_007065553.1:n.557C>T, XM_047437120.1:c.383C>A, XM_047437120.1:c.383C>T, XM_047437119.1:c.524C>A, XM_047437119.1:c.524C>T, NP_004278.2:p.Ser175Tyr, NP_004278.2:p.Ser175Phe, NP_473363.1:p.Ser175Tyr, NP_473363.1:p.Ser175Phe, NP_001350780.1:p.Ser157Tyr, NP_001350780.1:p.Ser157Phe, NP_001340043.1:p.Ser174Tyr, NP_001340043.1:p.Ser174Phe, NP_001308063.1:p.Ser110Tyr, NP_001308063.1:p.Ser110Phe, NP_001317181.1:p.Ser128Tyr, NP_001317181.1:p.Ser128Phe, NP_001340044.1:p.Ser127Tyr, NP_001340044.1:p.Ser127Phe, NP_001340045.1:p.Ser127Tyr, NP_001340045.1:p.Ser127Phe, NP_001308062.1:p.Ser175Tyr, NP_001308062.1:p.Ser175Phe, XP_006722253.1:p.Ser175Tyr, XP_006722253.1:p.Ser175Phe, XP_011523803.1:p.Ser175Tyr, XP_011523803.1:p.Ser175Phe, XP_011523804.1:p.Ser175Tyr, XP_011523804.1:p.Ser175Phe, XP_016880872.1:p.Ser175Tyr, XP_016880872.1:p.Ser175Phe, XP_016880878.2:p.Ser157Tyr, XP_016880878.2:p.Ser157Phe, XP_016880881.1:p.Ser128Tyr, XP_016880881.1:p.Ser128Phe, XP_016880867.1:p.Ser174Tyr, XP_016880867.1:p.Ser174Phe, XP_016880875.1:p.Ser128Tyr, XP_016880875.1:p.Ser128Phe, XP_016880876.1:p.Ser127Tyr, XP_016880876.1:p.Ser127Phe, XP_047293070.1:p.Ser157Tyr, XP_047293070.1:p.Ser157Phe, XP_047293071.1:p.Ser156Tyr, XP_047293071.1:p.Ser156Phe, XP_047293068.1:p.Ser175Tyr, XP_047293068.1:p.Ser175Phe, XP_047293069.1:p.Ser174Tyr, XP_047293069.1:p.Ser174Phe, XP_047293073.1:p.Ser128Tyr, XP_047293073.1:p.Ser128Phe, XP_047293074.1:p.Ser127Tyr, XP_047293074.1:p.Ser127Phe, XP_047293072.1:p.Ser175Tyr, XP_047293072.1:p.Ser175Phe, XP_047293076.1:p.Ser128Tyr, XP_047293076.1:p.Ser128Phe, XP_047293075.1:p.Ser175Tyr, XP_047293075.1:p.Ser175Phe

                  9.

                  rs1433213435 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:46938697 (GRCh38)
                    17:45016063 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:46938696:T:C
                    Gene:
                    GOSR2 (Varview), LRRC37A2 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000056/2 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000017.11:g.46938697T>C, NC_000017.10:g.45016063T>C, NG_031806.2:g.20578T>C, NM_004287.5:c.576T>C, NM_004287.4:c.576T>C, NM_004287.3:c.576T>C, NM_054022.4:c.576T>C, NM_054022.3:c.576T>C, NM_054022.2:c.576T>C, NM_001363851.2:c.522T>C, NM_001363851.1:c.522T>C, NM_001353114.2:c.573T>C, NM_001353114.1:c.573T>C, NM_001321134.2:c.381T>C, NM_001321134.1:c.381T>C, NM_001330252.2:c.435T>C, NM_001330252.1:c.435T>C, NM_001353115.2:c.432T>C, NM_001353115.1:c.432T>C, NR_148349.2:n.609T>C, NR_148349.1:n.652T>C, NR_148350.2:n.468T>C, NR_148350.1:n.511T>C, NM_001353116.2:c.432T>C, NM_001353116.1:c.432T>C, NR_148351.2:n.468T>C, NR_148351.1:n.511T>C, NM_001321133.2:c.576T>C, NM_001321133.1:c.576T>C, XM_006722190.5:c.576T>C, XM_006722190.4:c.576T>C, XM_006722190.3:c.576T>C, XM_006722190.2:c.576T>C, XM_006722190.1:c.576T>C, XM_011525501.4:c.576T>C, XM_011525501.3:c.576T>C, XM_011525501.2:c.576T>C, XM_011525501.1:c.576T>C, XR_934616.4:n.609T>C, XR_934616.3:n.636T>C, XR_934616.2:n.661T>C, XR_934616.1:n.655T>C, XM_011525502.4:c.576T>C, XM_011525502.3:c.576T>C, XM_011525502.2:c.576T>C, XM_011525502.1:c.576T>C, XM_017025383.3:c.576T>C, XM_017025383.2:c.576T>C, XM_017025383.1:c.576T>C, XM_017025389.2:c.522T>C, XM_017025389.1:c.522T>C, XM_017025392.2:c.435T>C, XM_017025392.1:c.435T>C, XM_017025378.2:c.573T>C, XM_017025378.1:c.573T>C, XM_017025386.2:c.435T>C, XM_017025386.1:c.435T>C, XM_017025387.2:c.432T>C, XM_017025387.1:c.432T>C, XM_047437114.1:c.522T>C, XM_047437115.1:c.519T>C, XM_047437112.1:c.576T>C, XM_047437113.1:c.573T>C, XR_007065552.1:n.609T>C, XM_047437117.1:c.435T>C, XM_047437118.1:c.432T>C, XM_047437116.1:c.576T>C, XR_007065553.1:n.609T>C, XM_047437120.1:c.435T>C, XM_047437119.1:c.576T>C

                    10.

                    rs1429041125 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      17:46932192 (GRCh38)
                      17:45009558 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:46932191:C:A
                      Gene:
                      GOSR2 (Varview), LRRC37A2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.46932192C>A, NC_000017.10:g.45009558C>A, NG_031806.2:g.14073C>A, NM_004287.5:c.329C>A, NM_004287.4:c.329C>A, NM_004287.3:c.329C>A, NM_054022.4:c.329C>A, NM_054022.3:c.329C>A, NM_054022.2:c.329C>A, NM_001012511.3:c.329C>A, NM_001012511.2:c.329C>A, NM_001012511.1:c.329C>A, NM_001363851.2:c.275C>A, NM_001363851.1:c.275C>A, NM_001353114.2:c.326C>A, NM_001353114.1:c.326C>A, NM_001321134.2:c.275C>A, NM_001321134.1:c.275C>A, NM_001330252.2:c.329C>A, NM_001330252.1:c.329C>A, NM_001353115.2:c.326C>A, NM_001353115.1:c.326C>A, NR_148349.2:n.362C>A, NR_148349.1:n.405C>A, NR_148350.2:n.362C>A, NR_148350.1:n.405C>A, NM_001353116.2:c.326C>A, NM_001353116.1:c.326C>A, NR_148351.2:n.362C>A, NR_148351.1:n.405C>A, NM_001321133.2:c.329C>A, NM_001321133.1:c.329C>A, XM_006722190.5:c.329C>A, XM_006722190.4:c.329C>A, XM_006722190.3:c.329C>A, XM_006722190.2:c.329C>A, XM_006722190.1:c.329C>A, XM_011525501.4:c.329C>A, XM_011525501.3:c.329C>A, XM_011525501.2:c.329C>A, XM_011525501.1:c.329C>A, XR_934616.4:n.362C>A, XR_934616.3:n.389C>A, XR_934616.2:n.414C>A, XR_934616.1:n.408C>A, XM_011525502.4:c.329C>A, XM_011525502.3:c.329C>A, XM_011525502.2:c.329C>A, XM_011525502.1:c.329C>A, XM_017025383.3:c.329C>A, XM_017025383.2:c.329C>A, XM_017025383.1:c.329C>A, XM_017025389.2:c.275C>A, XM_017025389.1:c.275C>A, XM_017025392.2:c.329C>A, XM_017025392.1:c.329C>A, XM_017025378.2:c.326C>A, XM_017025378.1:c.326C>A, XM_017025386.2:c.329C>A, XM_017025386.1:c.329C>A, XM_017025387.2:c.326C>A, XM_017025387.1:c.326C>A, XM_047437114.1:c.275C>A, XM_047437115.1:c.272C>A, XM_047437112.1:c.329C>A, XM_047437113.1:c.326C>A, XR_007065552.1:n.362C>A, XM_047437117.1:c.329C>A, XM_047437118.1:c.326C>A, XM_047437116.1:c.329C>A, XR_007065553.1:n.362C>A, XM_047437120.1:c.329C>A, XM_047437119.1:c.329C>A, NP_004278.2:p.Thr110Asn, NP_473363.1:p.Thr110Asn, NP_001012529.1:p.Thr110Asn, NP_001350780.1:p.Thr92Asn, NP_001340043.1:p.Thr109Asn, NP_001308063.1:p.Thr92Asn, NP_001317181.1:p.Thr110Asn, NP_001340044.1:p.Thr109Asn, NP_001340045.1:p.Thr109Asn, NP_001308062.1:p.Thr110Asn, XP_006722253.1:p.Thr110Asn, XP_011523803.1:p.Thr110Asn, XP_011523804.1:p.Thr110Asn, XP_016880872.1:p.Thr110Asn, XP_016880878.2:p.Thr92Asn, XP_016880881.1:p.Thr110Asn, XP_016880867.1:p.Thr109Asn, XP_016880875.1:p.Thr110Asn, XP_016880876.1:p.Thr109Asn, XP_047293070.1:p.Thr92Asn, XP_047293071.1:p.Thr91Asn, XP_047293068.1:p.Thr110Asn, XP_047293069.1:p.Thr109Asn, XP_047293073.1:p.Thr110Asn, XP_047293074.1:p.Thr109Asn, XP_047293072.1:p.Thr110Asn, XP_047293076.1:p.Thr110Asn, XP_047293075.1:p.Thr110Asn

                      11.

                      rs1425442098 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C,T [Show Flanks]
                        Chromosome:
                        17:46923196 (GRCh38)
                        17:45000562 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:46923195:G:A,NC_000017.11:46923195:G:C,NC_000017.11:46923195:G:T
                        Gene:
                        GOSR2 (Varview), LRRC37A2 (Varview)
                        Functional Consequence:
                        intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000031/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.46923196G>A, NC_000017.11:g.46923196G>C, NC_000017.11:g.46923196G>T, NC_000017.10:g.45000562G>A, NC_000017.10:g.45000562G>C, NC_000017.10:g.45000562G>T, NG_031806.2:g.5077G>A, NG_031806.2:g.5077G>C, NG_031806.2:g.5077G>T, NM_004287.5:c.4G>A, NM_004287.5:c.4G>C, NM_004287.5:c.4G>T, NM_004287.4:c.4G>A, NM_004287.4:c.4G>C, NM_004287.4:c.4G>T, NM_004287.3:c.4G>A, NM_004287.3:c.4G>C, NM_004287.3:c.4G>T, NM_054022.4:c.4G>A, NM_054022.4:c.4G>C, NM_054022.4:c.4G>T, NM_054022.3:c.4G>A, NM_054022.3:c.4G>C, NM_054022.3:c.4G>T, NM_054022.2:c.4G>A, NM_054022.2:c.4G>C, NM_054022.2:c.4G>T, NM_001012511.3:c.4G>A, NM_001012511.3:c.4G>C, NM_001012511.3:c.4G>T, NM_001012511.2:c.4G>A, NM_001012511.2:c.4G>C, NM_001012511.2:c.4G>T, NM_001012511.1:c.4G>A, NM_001012511.1:c.4G>C, NM_001012511.1:c.4G>T, NM_001363851.2:c.-462G>A, NM_001363851.2:c.-462G>C, NM_001363851.2:c.-462G>T, NM_001363851.1:c.-462G>A, NM_001363851.1:c.-462G>C, NM_001363851.1:c.-462G>T, NM_001353114.2:c.4G>A, NM_001353114.2:c.4G>C, NM_001353114.2:c.4G>T, NM_001353114.1:c.4G>A, NM_001353114.1:c.4G>C, NM_001353114.1:c.4G>T, NM_001321134.2:c.-99G>A, NM_001321134.2:c.-99G>C, NM_001321134.2:c.-99G>T, NM_001321134.1:c.-99G>A, NM_001321134.1:c.-99G>C, NM_001321134.1:c.-99G>T, NM_001330252.2:c.4G>A, NM_001330252.2:c.4G>C, NM_001330252.2:c.4G>T, NM_001330252.1:c.4G>A, NM_001330252.1:c.4G>C, NM_001330252.1:c.4G>T, NM_001353115.2:c.4G>A, NM_001353115.2:c.4G>C, NM_001353115.2:c.4G>T, NM_001353115.1:c.4G>A, NM_001353115.1:c.4G>C, NM_001353115.1:c.4G>T, NR_148349.2:n.37G>A, NR_148349.2:n.37G>C, NR_148349.2:n.37G>T, NR_148349.1:n.80G>A, NR_148349.1:n.80G>C, NR_148349.1:n.80G>T, NR_148350.2:n.37G>A, NR_148350.2:n.37G>C, NR_148350.2:n.37G>T, NR_148350.1:n.80G>A, NR_148350.1:n.80G>C, NR_148350.1:n.80G>T, NM_001353116.2:c.4G>A, NM_001353116.2:c.4G>C, NM_001353116.2:c.4G>T, NM_001353116.1:c.4G>A, NM_001353116.1:c.4G>C, NM_001353116.1:c.4G>T, NR_148351.2:n.37G>A, NR_148351.2:n.37G>C, NR_148351.2:n.37G>T, NR_148351.1:n.80G>A, NR_148351.1:n.80G>C, NR_148351.1:n.80G>T, NM_001321133.2:c.4G>A, NM_001321133.2:c.4G>C, NM_001321133.2:c.4G>T, NM_001321133.1:c.4G>A, NM_001321133.1:c.4G>C, NM_001321133.1:c.4G>T, XM_006722190.5:c.4G>A, XM_006722190.5:c.4G>C, XM_006722190.5:c.4G>T, XM_006722190.4:c.4G>A, XM_006722190.4:c.4G>C, XM_006722190.4:c.4G>T, XM_006722190.3:c.4G>A, XM_006722190.3:c.4G>C, XM_006722190.3:c.4G>T, XM_006722190.2:c.4G>A, XM_006722190.2:c.4G>C, XM_006722190.2:c.4G>T, XM_006722190.1:c.4G>A, XM_006722190.1:c.4G>C, XM_006722190.1:c.4G>T, XM_011525501.4:c.4G>A, XM_011525501.4:c.4G>C, XM_011525501.4:c.4G>T, XM_011525501.3:c.4G>A, XM_011525501.3:c.4G>C, XM_011525501.3:c.4G>T, XM_011525501.2:c.4G>A, XM_011525501.2:c.4G>C, XM_011525501.2:c.4G>T, XM_011525501.1:c.4G>A, XM_011525501.1:c.4G>C, XM_011525501.1:c.4G>T, XR_934616.4:n.37G>A, XR_934616.4:n.37G>C, XR_934616.4:n.37G>T, XR_934616.3:n.64G>A, XR_934616.3:n.64G>C, XR_934616.3:n.64G>T, XR_934616.2:n.89G>A, XR_934616.2:n.89G>C, XR_934616.2:n.89G>T, XR_934616.1:n.83G>A, XR_934616.1:n.83G>C, XR_934616.1:n.83G>T, XM_011525502.4:c.4G>A, XM_011525502.4:c.4G>C, XM_011525502.4:c.4G>T, XM_011525502.3:c.4G>A, XM_011525502.3:c.4G>C, XM_011525502.3:c.4G>T, XM_011525502.2:c.4G>A, XM_011525502.2:c.4G>C, XM_011525502.2:c.4G>T, XM_011525502.1:c.4G>A, XM_011525502.1:c.4G>C, XM_011525502.1:c.4G>T, XM_017025383.3:c.4G>A, XM_017025383.3:c.4G>C, XM_017025383.3:c.4G>T, XM_017025383.2:c.4G>A, XM_017025383.2:c.4G>C, XM_017025383.2:c.4G>T, XM_017025383.1:c.4G>A, XM_017025383.1:c.4G>C, XM_017025383.1:c.4G>T, XM_017025389.2:c.-99G>A, XM_017025389.2:c.-99G>C, XM_017025389.2:c.-99G>T, XM_017025389.1:c.-99G>A, XM_017025389.1:c.-99G>C, XM_017025389.1:c.-99G>T, XM_017025392.2:c.4G>A, XM_017025392.2:c.4G>C, XM_017025392.2:c.4G>T, XM_017025392.1:c.4G>A, XM_017025392.1:c.4G>C, XM_017025392.1:c.4G>T, XM_017025378.2:c.4G>A, XM_017025378.2:c.4G>C, XM_017025378.2:c.4G>T, XM_017025378.1:c.4G>A, XM_017025378.1:c.4G>C, XM_017025378.1:c.4G>T, XM_017025386.2:c.4G>A, XM_017025386.2:c.4G>C, XM_017025386.2:c.4G>T, XM_017025386.1:c.4G>A, XM_017025386.1:c.4G>C, XM_017025386.1:c.4G>T, XM_017025387.2:c.4G>A, XM_017025387.2:c.4G>C, XM_017025387.2:c.4G>T, XM_017025387.1:c.4G>A, XM_017025387.1:c.4G>C, XM_017025387.1:c.4G>T, XM_047437114.1:c.-462G>A, XM_047437114.1:c.-462G>C, XM_047437114.1:c.-462G>T, XM_047437115.1:c.-99G>A, XM_047437115.1:c.-99G>C, XM_047437115.1:c.-99G>T, XM_047437112.1:c.4G>A, XM_047437112.1:c.4G>C, XM_047437112.1:c.4G>T, XM_047437113.1:c.4G>A, XM_047437113.1:c.4G>C, XM_047437113.1:c.4G>T, XR_007065552.1:n.37G>A, XR_007065552.1:n.37G>C, XR_007065552.1:n.37G>T, XM_047437117.1:c.4G>A, XM_047437117.1:c.4G>C, XM_047437117.1:c.4G>T, XM_047437118.1:c.4G>A, XM_047437118.1:c.4G>C, XM_047437118.1:c.4G>T, XM_047437116.1:c.4G>A, XM_047437116.1:c.4G>C, XM_047437116.1:c.4G>T, XR_007065553.1:n.37G>A, XR_007065553.1:n.37G>C, XR_007065553.1:n.37G>T, XM_047437120.1:c.4G>A, XM_047437120.1:c.4G>C, XM_047437120.1:c.4G>T, XM_047437119.1:c.4G>A, XM_047437119.1:c.4G>C, XM_047437119.1:c.4G>T, NP_004278.2:p.Asp2Asn, NP_004278.2:p.Asp2His, NP_004278.2:p.Asp2Tyr, NP_473363.1:p.Asp2Asn, NP_473363.1:p.Asp2His, NP_473363.1:p.Asp2Tyr, NP_001012529.1:p.Asp2Asn, NP_001012529.1:p.Asp2His, NP_001012529.1:p.Asp2Tyr, NP_001340043.1:p.Asp2Asn, NP_001340043.1:p.Asp2His, NP_001340043.1:p.Asp2Tyr, NP_001317181.1:p.Asp2Asn, NP_001317181.1:p.Asp2His, NP_001317181.1:p.Asp2Tyr, NP_001340044.1:p.Asp2Asn, NP_001340044.1:p.Asp2His, NP_001340044.1:p.Asp2Tyr, NP_001340045.1:p.Asp2Asn, NP_001340045.1:p.Asp2His, NP_001340045.1:p.Asp2Tyr, NP_001308062.1:p.Asp2Asn, NP_001308062.1:p.Asp2His, NP_001308062.1:p.Asp2Tyr, XP_006722253.1:p.Asp2Asn, XP_006722253.1:p.Asp2His, XP_006722253.1:p.Asp2Tyr, XP_011523803.1:p.Asp2Asn, XP_011523803.1:p.Asp2His, XP_011523803.1:p.Asp2Tyr, XP_011523804.1:p.Asp2Asn, XP_011523804.1:p.Asp2His, XP_011523804.1:p.Asp2Tyr, XP_016880872.1:p.Asp2Asn, XP_016880872.1:p.Asp2His, XP_016880872.1:p.Asp2Tyr, XP_016880881.1:p.Asp2Asn, XP_016880881.1:p.Asp2His, XP_016880881.1:p.Asp2Tyr, XP_016880867.1:p.Asp2Asn, XP_016880867.1:p.Asp2His, XP_016880867.1:p.Asp2Tyr, XP_016880875.1:p.Asp2Asn, XP_016880875.1:p.Asp2His, XP_016880875.1:p.Asp2Tyr, XP_016880876.1:p.Asp2Asn, XP_016880876.1:p.Asp2His, XP_016880876.1:p.Asp2Tyr, XP_047293068.1:p.Asp2Asn, XP_047293068.1:p.Asp2His, XP_047293068.1:p.Asp2Tyr, XP_047293069.1:p.Asp2Asn, XP_047293069.1:p.Asp2His, XP_047293069.1:p.Asp2Tyr, XP_047293073.1:p.Asp2Asn, XP_047293073.1:p.Asp2His, XP_047293073.1:p.Asp2Tyr, XP_047293074.1:p.Asp2Asn, XP_047293074.1:p.Asp2His, XP_047293074.1:p.Asp2Tyr, XP_047293072.1:p.Asp2Asn, XP_047293072.1:p.Asp2His, XP_047293072.1:p.Asp2Tyr, XP_047293076.1:p.Asp2Asn, XP_047293076.1:p.Asp2His, XP_047293076.1:p.Asp2Tyr, XP_047293075.1:p.Asp2Asn, XP_047293075.1:p.Asp2His, XP_047293075.1:p.Asp2Tyr

                        12.

                        rs1425416920 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          17:46932172 (GRCh38)
                          17:45009538 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:46932171:G:A,NC_000017.11:46932171:G:T
                          Gene:
                          GOSR2 (Varview), LRRC37A2 (Varview)
                          Functional Consequence:
                          synonymous_variant,intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.46932172G>A, NC_000017.11:g.46932172G>T, NC_000017.10:g.45009538G>A, NC_000017.10:g.45009538G>T, NG_031806.2:g.14053G>A, NG_031806.2:g.14053G>T, NM_004287.5:c.309G>A, NM_004287.5:c.309G>T, NM_004287.4:c.309G>A, NM_004287.4:c.309G>T, NM_004287.3:c.309G>A, NM_004287.3:c.309G>T, NM_054022.4:c.309G>A, NM_054022.4:c.309G>T, NM_054022.3:c.309G>A, NM_054022.3:c.309G>T, NM_054022.2:c.309G>A, NM_054022.2:c.309G>T, NM_001012511.3:c.309G>A, NM_001012511.3:c.309G>T, NM_001012511.2:c.309G>A, NM_001012511.2:c.309G>T, NM_001012511.1:c.309G>A, NM_001012511.1:c.309G>T, NM_001363851.2:c.255G>A, NM_001363851.2:c.255G>T, NM_001363851.1:c.255G>A, NM_001363851.1:c.255G>T, NM_001353114.2:c.306G>A, NM_001353114.2:c.306G>T, NM_001353114.1:c.306G>A, NM_001353114.1:c.306G>T, NM_001321134.2:c.255G>A, NM_001321134.2:c.255G>T, NM_001321134.1:c.255G>A, NM_001321134.1:c.255G>T, NM_001330252.2:c.309G>A, NM_001330252.2:c.309G>T, NM_001330252.1:c.309G>A, NM_001330252.1:c.309G>T, NM_001353115.2:c.306G>A, NM_001353115.2:c.306G>T, NM_001353115.1:c.306G>A, NM_001353115.1:c.306G>T, NR_148349.2:n.342G>A, NR_148349.2:n.342G>T, NR_148349.1:n.385G>A, NR_148349.1:n.385G>T, NR_148350.2:n.342G>A, NR_148350.2:n.342G>T, NR_148350.1:n.385G>A, NR_148350.1:n.385G>T, NM_001353116.2:c.306G>A, NM_001353116.2:c.306G>T, NM_001353116.1:c.306G>A, NM_001353116.1:c.306G>T, NR_148351.2:n.342G>A, NR_148351.2:n.342G>T, NR_148351.1:n.385G>A, NR_148351.1:n.385G>T, NM_001321133.2:c.309G>A, NM_001321133.2:c.309G>T, NM_001321133.1:c.309G>A, NM_001321133.1:c.309G>T, XM_006722190.5:c.309G>A, XM_006722190.5:c.309G>T, XM_006722190.4:c.309G>A, XM_006722190.4:c.309G>T, XM_006722190.3:c.309G>A, XM_006722190.3:c.309G>T, XM_006722190.2:c.309G>A, XM_006722190.2:c.309G>T, XM_006722190.1:c.309G>A, XM_006722190.1:c.309G>T, XM_011525501.4:c.309G>A, XM_011525501.4:c.309G>T, XM_011525501.3:c.309G>A, XM_011525501.3:c.309G>T, XM_011525501.2:c.309G>A, XM_011525501.2:c.309G>T, XM_011525501.1:c.309G>A, XM_011525501.1:c.309G>T, XR_934616.4:n.342G>A, XR_934616.4:n.342G>T, XR_934616.3:n.369G>A, XR_934616.3:n.369G>T, XR_934616.2:n.394G>A, XR_934616.2:n.394G>T, XR_934616.1:n.388G>A, XR_934616.1:n.388G>T, XM_011525502.4:c.309G>A, XM_011525502.4:c.309G>T, XM_011525502.3:c.309G>A, XM_011525502.3:c.309G>T, XM_011525502.2:c.309G>A, XM_011525502.2:c.309G>T, XM_011525502.1:c.309G>A, XM_011525502.1:c.309G>T, XM_017025383.3:c.309G>A, XM_017025383.3:c.309G>T, XM_017025383.2:c.309G>A, XM_017025383.2:c.309G>T, XM_017025383.1:c.309G>A, XM_017025383.1:c.309G>T, XM_017025389.2:c.255G>A, XM_017025389.2:c.255G>T, XM_017025389.1:c.255G>A, XM_017025389.1:c.255G>T, XM_017025392.2:c.309G>A, XM_017025392.2:c.309G>T, XM_017025392.1:c.309G>A, XM_017025392.1:c.309G>T, XM_017025378.2:c.306G>A, XM_017025378.2:c.306G>T, XM_017025378.1:c.306G>A, XM_017025378.1:c.306G>T, XM_017025386.2:c.309G>A, XM_017025386.2:c.309G>T, XM_017025386.1:c.309G>A, XM_017025386.1:c.309G>T, XM_017025387.2:c.306G>A, XM_017025387.2:c.306G>T, XM_017025387.1:c.306G>A, XM_017025387.1:c.306G>T, XM_047437114.1:c.255G>A, XM_047437114.1:c.255G>T, XM_047437115.1:c.252G>A, XM_047437115.1:c.252G>T, XM_047437112.1:c.309G>A, XM_047437112.1:c.309G>T, XM_047437113.1:c.306G>A, XM_047437113.1:c.306G>T, XR_007065552.1:n.342G>A, XR_007065552.1:n.342G>T, XM_047437117.1:c.309G>A, XM_047437117.1:c.309G>T, XM_047437118.1:c.306G>A, XM_047437118.1:c.306G>T, XM_047437116.1:c.309G>A, XM_047437116.1:c.309G>T, XR_007065553.1:n.342G>A, XR_007065553.1:n.342G>T, XM_047437120.1:c.309G>A, XM_047437120.1:c.309G>T, XM_047437119.1:c.309G>A, XM_047437119.1:c.309G>T, NP_004278.2:p.Glu103Asp, NP_473363.1:p.Glu103Asp, NP_001012529.1:p.Glu103Asp, NP_001350780.1:p.Glu85Asp, NP_001340043.1:p.Glu102Asp, NP_001308063.1:p.Glu85Asp, NP_001317181.1:p.Glu103Asp, NP_001340044.1:p.Glu102Asp, NP_001340045.1:p.Glu102Asp, NP_001308062.1:p.Glu103Asp, XP_006722253.1:p.Glu103Asp, XP_011523803.1:p.Glu103Asp, XP_011523804.1:p.Glu103Asp, XP_016880872.1:p.Glu103Asp, XP_016880878.2:p.Glu85Asp, XP_016880881.1:p.Glu103Asp, XP_016880867.1:p.Glu102Asp, XP_016880875.1:p.Glu103Asp, XP_016880876.1:p.Glu102Asp, XP_047293070.1:p.Glu85Asp, XP_047293071.1:p.Glu84Asp, XP_047293068.1:p.Glu103Asp, XP_047293069.1:p.Glu102Asp, XP_047293073.1:p.Glu103Asp, XP_047293074.1:p.Glu102Asp, XP_047293072.1:p.Glu103Asp, XP_047293076.1:p.Glu103Asp, XP_047293075.1:p.Glu103Asp

                          13.

                          rs1425304897 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            17:46938641 (GRCh38)
                            17:45016007 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:46938640:T:C
                            Gene:
                            GOSR2 (Varview), LRRC37A2 (Varview)
                            Functional Consequence:
                            synonymous_variant,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000017.11:g.46938641T>C, NC_000017.10:g.45016007T>C, NG_031806.2:g.20522T>C, NM_004287.5:c.520T>C, NM_004287.4:c.520T>C, NM_004287.3:c.520T>C, NM_054022.4:c.520T>C, NM_054022.3:c.520T>C, NM_054022.2:c.520T>C, NM_001363851.2:c.466T>C, NM_001363851.1:c.466T>C, NM_001353114.2:c.517T>C, NM_001353114.1:c.517T>C, NM_001321134.2:c.325T>C, NM_001321134.1:c.325T>C, NM_001330252.2:c.379T>C, NM_001330252.1:c.379T>C, NM_001353115.2:c.376T>C, NM_001353115.1:c.376T>C, NR_148349.2:n.553T>C, NR_148349.1:n.596T>C, NR_148350.2:n.412T>C, NR_148350.1:n.455T>C, NM_001353116.2:c.376T>C, NM_001353116.1:c.376T>C, NR_148351.2:n.412T>C, NR_148351.1:n.455T>C, NM_001321133.2:c.520T>C, NM_001321133.1:c.520T>C, XM_006722190.5:c.520T>C, XM_006722190.4:c.520T>C, XM_006722190.3:c.520T>C, XM_006722190.2:c.520T>C, XM_006722190.1:c.520T>C, XM_011525501.4:c.520T>C, XM_011525501.3:c.520T>C, XM_011525501.2:c.520T>C, XM_011525501.1:c.520T>C, XR_934616.4:n.553T>C, XR_934616.3:n.580T>C, XR_934616.2:n.605T>C, XR_934616.1:n.599T>C, XM_011525502.4:c.520T>C, XM_011525502.3:c.520T>C, XM_011525502.2:c.520T>C, XM_011525502.1:c.520T>C, XM_017025383.3:c.520T>C, XM_017025383.2:c.520T>C, XM_017025383.1:c.520T>C, XM_017025389.2:c.466T>C, XM_017025389.1:c.466T>C, XM_017025392.2:c.379T>C, XM_017025392.1:c.379T>C, XM_017025378.2:c.517T>C, XM_017025378.1:c.517T>C, XM_017025386.2:c.379T>C, XM_017025386.1:c.379T>C, XM_017025387.2:c.376T>C, XM_017025387.1:c.376T>C, XM_047437114.1:c.466T>C, XM_047437115.1:c.463T>C, XM_047437112.1:c.520T>C, XM_047437113.1:c.517T>C, XR_007065552.1:n.553T>C, XM_047437117.1:c.379T>C, XM_047437118.1:c.376T>C, XM_047437116.1:c.520T>C, XR_007065553.1:n.553T>C, XM_047437120.1:c.379T>C, XM_047437119.1:c.520T>C

                            14.

                            rs1418311186 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              17:46938675 (GRCh38)
                              17:45016041 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:46938674:G:A
                              Gene:
                              GOSR2 (Varview), LRRC37A2 (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000017.11:g.46938675G>A, NC_000017.10:g.45016041G>A, NG_031806.2:g.20556G>A, NM_004287.5:c.554G>A, NM_004287.4:c.554G>A, NM_004287.3:c.554G>A, NM_054022.4:c.554G>A, NM_054022.3:c.554G>A, NM_054022.2:c.554G>A, NM_001363851.2:c.500G>A, NM_001363851.1:c.500G>A, NM_001353114.2:c.551G>A, NM_001353114.1:c.551G>A, NM_001321134.2:c.359G>A, NM_001321134.1:c.359G>A, NM_001330252.2:c.413G>A, NM_001330252.1:c.413G>A, NM_001353115.2:c.410G>A, NM_001353115.1:c.410G>A, NR_148349.2:n.587G>A, NR_148349.1:n.630G>A, NR_148350.2:n.446G>A, NR_148350.1:n.489G>A, NM_001353116.2:c.410G>A, NM_001353116.1:c.410G>A, NR_148351.2:n.446G>A, NR_148351.1:n.489G>A, NM_001321133.2:c.554G>A, NM_001321133.1:c.554G>A, XM_006722190.5:c.554G>A, XM_006722190.4:c.554G>A, XM_006722190.3:c.554G>A, XM_006722190.2:c.554G>A, XM_006722190.1:c.554G>A, XM_011525501.4:c.554G>A, XM_011525501.3:c.554G>A, XM_011525501.2:c.554G>A, XM_011525501.1:c.554G>A, XR_934616.4:n.587G>A, XR_934616.3:n.614G>A, XR_934616.2:n.639G>A, XR_934616.1:n.633G>A, XM_011525502.4:c.554G>A, XM_011525502.3:c.554G>A, XM_011525502.2:c.554G>A, XM_011525502.1:c.554G>A, XM_017025383.3:c.554G>A, XM_017025383.2:c.554G>A, XM_017025383.1:c.554G>A, XM_017025389.2:c.500G>A, XM_017025389.1:c.500G>A, XM_017025392.2:c.413G>A, XM_017025392.1:c.413G>A, XM_017025378.2:c.551G>A, XM_017025378.1:c.551G>A, XM_017025386.2:c.413G>A, XM_017025386.1:c.413G>A, XM_017025387.2:c.410G>A, XM_017025387.1:c.410G>A, XM_047437114.1:c.500G>A, XM_047437115.1:c.497G>A, XM_047437112.1:c.554G>A, XM_047437113.1:c.551G>A, XR_007065552.1:n.587G>A, XM_047437117.1:c.413G>A, XM_047437118.1:c.410G>A, XM_047437116.1:c.554G>A, XR_007065553.1:n.587G>A, XM_047437120.1:c.413G>A, XM_047437119.1:c.554G>A, NP_004278.2:p.Arg185Gln, NP_473363.1:p.Arg185Gln, NP_001350780.1:p.Arg167Gln, NP_001340043.1:p.Arg184Gln, NP_001308063.1:p.Arg120Gln, NP_001317181.1:p.Arg138Gln, NP_001340044.1:p.Arg137Gln, NP_001340045.1:p.Arg137Gln, NP_001308062.1:p.Arg185Gln, XP_006722253.1:p.Arg185Gln, XP_011523803.1:p.Arg185Gln, XP_011523804.1:p.Arg185Gln, XP_016880872.1:p.Arg185Gln, XP_016880878.2:p.Arg167Gln, XP_016880881.1:p.Arg138Gln, XP_016880867.1:p.Arg184Gln, XP_016880875.1:p.Arg138Gln, XP_016880876.1:p.Arg137Gln, XP_047293070.1:p.Arg167Gln, XP_047293071.1:p.Arg166Gln, XP_047293068.1:p.Arg185Gln, XP_047293069.1:p.Arg184Gln, XP_047293073.1:p.Arg138Gln, XP_047293074.1:p.Arg137Gln, XP_047293072.1:p.Arg185Gln, XP_047293076.1:p.Arg138Gln, XP_047293075.1:p.Arg185Gln

                              15.

                              rs1418268515 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                17:46938610 (GRCh38)
                                17:45015976 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:46938609:G:T
                                Gene:
                                GOSR2 (Varview), LRRC37A2 (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.46938610G>T, NC_000017.10:g.45015976G>T, NG_031806.2:g.20491G>T, NM_004287.5:c.489G>T, NM_004287.4:c.489G>T, NM_004287.3:c.489G>T, NM_054022.4:c.489G>T, NM_054022.3:c.489G>T, NM_054022.2:c.489G>T, NM_001363851.2:c.435G>T, NM_001363851.1:c.435G>T, NM_001353114.2:c.486G>T, NM_001353114.1:c.486G>T, NM_001321134.2:c.294G>T, NM_001321134.1:c.294G>T, NM_001330252.2:c.348G>T, NM_001330252.1:c.348G>T, NM_001353115.2:c.345G>T, NM_001353115.1:c.345G>T, NR_148349.2:n.522G>T, NR_148349.1:n.565G>T, NR_148350.2:n.381G>T, NR_148350.1:n.424G>T, NM_001353116.2:c.345G>T, NM_001353116.1:c.345G>T, NR_148351.2:n.381G>T, NR_148351.1:n.424G>T, NM_001321133.2:c.489G>T, NM_001321133.1:c.489G>T, XM_006722190.5:c.489G>T, XM_006722190.4:c.489G>T, XM_006722190.3:c.489G>T, XM_006722190.2:c.489G>T, XM_006722190.1:c.489G>T, XM_011525501.4:c.489G>T, XM_011525501.3:c.489G>T, XM_011525501.2:c.489G>T, XM_011525501.1:c.489G>T, XR_934616.4:n.522G>T, XR_934616.3:n.549G>T, XR_934616.2:n.574G>T, XR_934616.1:n.568G>T, XM_011525502.4:c.489G>T, XM_011525502.3:c.489G>T, XM_011525502.2:c.489G>T, XM_011525502.1:c.489G>T, XM_017025383.3:c.489G>T, XM_017025383.2:c.489G>T, XM_017025383.1:c.489G>T, XM_017025389.2:c.435G>T, XM_017025389.1:c.435G>T, XM_017025392.2:c.348G>T, XM_017025392.1:c.348G>T, XM_017025378.2:c.486G>T, XM_017025378.1:c.486G>T, XM_017025386.2:c.348G>T, XM_017025386.1:c.348G>T, XM_017025387.2:c.345G>T, XM_017025387.1:c.345G>T, XM_047437114.1:c.435G>T, XM_047437115.1:c.432G>T, XM_047437112.1:c.489G>T, XM_047437113.1:c.486G>T, XR_007065552.1:n.522G>T, XM_047437117.1:c.348G>T, XM_047437118.1:c.345G>T, XM_047437116.1:c.489G>T, XR_007065553.1:n.522G>T, XM_047437120.1:c.348G>T, XM_047437119.1:c.489G>T, NP_004278.2:p.Lys163Asn, NP_473363.1:p.Lys163Asn, NP_001350780.1:p.Lys145Asn, NP_001340043.1:p.Lys162Asn, NP_001308063.1:p.Lys98Asn, NP_001317181.1:p.Lys116Asn, NP_001340044.1:p.Lys115Asn, NP_001340045.1:p.Lys115Asn, NP_001308062.1:p.Lys163Asn, XP_006722253.1:p.Lys163Asn, XP_011523803.1:p.Lys163Asn, XP_011523804.1:p.Lys163Asn, XP_016880872.1:p.Lys163Asn, XP_016880878.2:p.Lys145Asn, XP_016880881.1:p.Lys116Asn, XP_016880867.1:p.Lys162Asn, XP_016880875.1:p.Lys116Asn, XP_016880876.1:p.Lys115Asn, XP_047293070.1:p.Lys145Asn, XP_047293071.1:p.Lys144Asn, XP_047293068.1:p.Lys163Asn, XP_047293069.1:p.Lys162Asn, XP_047293073.1:p.Lys116Asn, XP_047293074.1:p.Lys115Asn, XP_047293072.1:p.Lys163Asn, XP_047293076.1:p.Lys116Asn, XP_047293075.1:p.Lys163Asn

                                16.

                                rs1413606819 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:46932108 (GRCh38)
                                  17:45009474 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:46932107:C:T
                                  Gene:
                                  GOSR2 (Varview), LRRC37A2 (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.46932108C>T, NC_000017.10:g.45009474C>T, NG_031806.2:g.13989C>T, NM_004287.5:c.245C>T, NM_004287.4:c.245C>T, NM_004287.3:c.245C>T, NM_054022.4:c.245C>T, NM_054022.3:c.245C>T, NM_054022.2:c.245C>T, NM_001012511.3:c.245C>T, NM_001012511.2:c.245C>T, NM_001012511.1:c.245C>T, NM_001363851.2:c.191C>T, NM_001363851.1:c.191C>T, NM_001353114.2:c.242C>T, NM_001353114.1:c.242C>T, NM_001321134.2:c.191C>T, NM_001321134.1:c.191C>T, NM_001330252.2:c.245C>T, NM_001330252.1:c.245C>T, NM_001353115.2:c.242C>T, NM_001353115.1:c.242C>T, NR_148349.2:n.278C>T, NR_148349.1:n.321C>T, NR_148350.2:n.278C>T, NR_148350.1:n.321C>T, NM_001353116.2:c.242C>T, NM_001353116.1:c.242C>T, NR_148351.2:n.278C>T, NR_148351.1:n.321C>T, NM_001321133.2:c.245C>T, NM_001321133.1:c.245C>T, XM_006722190.5:c.245C>T, XM_006722190.4:c.245C>T, XM_006722190.3:c.245C>T, XM_006722190.2:c.245C>T, XM_006722190.1:c.245C>T, XM_011525501.4:c.245C>T, XM_011525501.3:c.245C>T, XM_011525501.2:c.245C>T, XM_011525501.1:c.245C>T, XR_934616.4:n.278C>T, XR_934616.3:n.305C>T, XR_934616.2:n.330C>T, XR_934616.1:n.324C>T, XM_011525502.4:c.245C>T, XM_011525502.3:c.245C>T, XM_011525502.2:c.245C>T, XM_011525502.1:c.245C>T, XM_017025383.3:c.245C>T, XM_017025383.2:c.245C>T, XM_017025383.1:c.245C>T, XM_017025389.2:c.191C>T, XM_017025389.1:c.191C>T, XM_017025392.2:c.245C>T, XM_017025392.1:c.245C>T, XM_017025378.2:c.242C>T, XM_017025378.1:c.242C>T, XM_017025386.2:c.245C>T, XM_017025386.1:c.245C>T, XM_017025387.2:c.242C>T, XM_017025387.1:c.242C>T, XM_047437114.1:c.191C>T, XM_047437115.1:c.188C>T, XM_047437112.1:c.245C>T, XM_047437113.1:c.242C>T, XR_007065552.1:n.278C>T, XM_047437117.1:c.245C>T, XM_047437118.1:c.242C>T, XM_047437116.1:c.245C>T, XR_007065553.1:n.278C>T, XM_047437120.1:c.245C>T, XM_047437119.1:c.245C>T, NP_004278.2:p.Thr82Ile, NP_473363.1:p.Thr82Ile, NP_001012529.1:p.Thr82Ile, NP_001350780.1:p.Thr64Ile, NP_001340043.1:p.Thr81Ile, NP_001308063.1:p.Thr64Ile, NP_001317181.1:p.Thr82Ile, NP_001340044.1:p.Thr81Ile, NP_001340045.1:p.Thr81Ile, NP_001308062.1:p.Thr82Ile, XP_006722253.1:p.Thr82Ile, XP_011523803.1:p.Thr82Ile, XP_011523804.1:p.Thr82Ile, XP_016880872.1:p.Thr82Ile, XP_016880878.2:p.Thr64Ile, XP_016880881.1:p.Thr82Ile, XP_016880867.1:p.Thr81Ile, XP_016880875.1:p.Thr82Ile, XP_016880876.1:p.Thr81Ile, XP_047293070.1:p.Thr64Ile, XP_047293071.1:p.Thr63Ile, XP_047293068.1:p.Thr82Ile, XP_047293069.1:p.Thr81Ile, XP_047293073.1:p.Thr82Ile, XP_047293074.1:p.Thr81Ile, XP_047293072.1:p.Thr82Ile, XP_047293076.1:p.Thr82Ile, XP_047293075.1:p.Thr82Ile

                                  17.

                                  rs1413496484 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G,T [Show Flanks]
                                    Chromosome:
                                    17:46923197 (GRCh38)
                                    17:45000563 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:46923196:A:C,NC_000017.11:46923196:A:G,NC_000017.11:46923196:A:T
                                    Gene:
                                    GOSR2 (Varview), LRRC37A2 (Varview)
                                    Functional Consequence:
                                    intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.00003/1 (ALFA)
                                    G=0.00007/1 (TOMMO)
                                    HGVS:
                                    NC_000017.11:g.46923197A>C, NC_000017.11:g.46923197A>G, NC_000017.11:g.46923197A>T, NC_000017.10:g.45000563A>C, NC_000017.10:g.45000563A>G, NC_000017.10:g.45000563A>T, NG_031806.2:g.5078A>C, NG_031806.2:g.5078A>G, NG_031806.2:g.5078A>T, NM_004287.5:c.5A>C, NM_004287.5:c.5A>G, NM_004287.5:c.5A>T, NM_004287.4:c.5A>C, NM_004287.4:c.5A>G, NM_004287.4:c.5A>T, NM_004287.3:c.5A>C, NM_004287.3:c.5A>G, NM_004287.3:c.5A>T, NM_054022.4:c.5A>C, NM_054022.4:c.5A>G, NM_054022.4:c.5A>T, NM_054022.3:c.5A>C, NM_054022.3:c.5A>G, NM_054022.3:c.5A>T, NM_054022.2:c.5A>C, NM_054022.2:c.5A>G, NM_054022.2:c.5A>T, NM_001012511.3:c.5A>C, NM_001012511.3:c.5A>G, NM_001012511.3:c.5A>T, NM_001012511.2:c.5A>C, NM_001012511.2:c.5A>G, NM_001012511.2:c.5A>T, NM_001012511.1:c.5A>C, NM_001012511.1:c.5A>G, NM_001012511.1:c.5A>T, NM_001363851.2:c.-461A>C, NM_001363851.2:c.-461A>G, NM_001363851.2:c.-461A>T, NM_001363851.1:c.-461A>C, NM_001363851.1:c.-461A>G, NM_001363851.1:c.-461A>T, NM_001353114.2:c.5A>C, NM_001353114.2:c.5A>G, NM_001353114.2:c.5A>T, NM_001353114.1:c.5A>C, NM_001353114.1:c.5A>G, NM_001353114.1:c.5A>T, NM_001321134.2:c.-98A>C, NM_001321134.2:c.-98A>G, NM_001321134.2:c.-98A>T, NM_001321134.1:c.-98A>C, NM_001321134.1:c.-98A>G, NM_001321134.1:c.-98A>T, NM_001330252.2:c.5A>C, NM_001330252.2:c.5A>G, NM_001330252.2:c.5A>T, NM_001330252.1:c.5A>C, NM_001330252.1:c.5A>G, NM_001330252.1:c.5A>T, NM_001353115.2:c.5A>C, NM_001353115.2:c.5A>G, NM_001353115.2:c.5A>T, NM_001353115.1:c.5A>C, NM_001353115.1:c.5A>G, NM_001353115.1:c.5A>T, NR_148349.2:n.38A>C, NR_148349.2:n.38A>G, NR_148349.2:n.38A>T, NR_148349.1:n.81A>C, NR_148349.1:n.81A>G, NR_148349.1:n.81A>T, NR_148350.2:n.38A>C, NR_148350.2:n.38A>G, NR_148350.2:n.38A>T, NR_148350.1:n.81A>C, NR_148350.1:n.81A>G, NR_148350.1:n.81A>T, NM_001353116.2:c.5A>C, NM_001353116.2:c.5A>G, NM_001353116.2:c.5A>T, NM_001353116.1:c.5A>C, NM_001353116.1:c.5A>G, NM_001353116.1:c.5A>T, NR_148351.2:n.38A>C, NR_148351.2:n.38A>G, NR_148351.2:n.38A>T, NR_148351.1:n.81A>C, NR_148351.1:n.81A>G, NR_148351.1:n.81A>T, NM_001321133.2:c.5A>C, NM_001321133.2:c.5A>G, NM_001321133.2:c.5A>T, NM_001321133.1:c.5A>C, NM_001321133.1:c.5A>G, NM_001321133.1:c.5A>T, XM_006722190.5:c.5A>C, XM_006722190.5:c.5A>G, XM_006722190.5:c.5A>T, XM_006722190.4:c.5A>C, XM_006722190.4:c.5A>G, XM_006722190.4:c.5A>T, XM_006722190.3:c.5A>C, XM_006722190.3:c.5A>G, XM_006722190.3:c.5A>T, XM_006722190.2:c.5A>C, XM_006722190.2:c.5A>G, XM_006722190.2:c.5A>T, XM_006722190.1:c.5A>C, XM_006722190.1:c.5A>G, XM_006722190.1:c.5A>T, XM_011525501.4:c.5A>C, XM_011525501.4:c.5A>G, XM_011525501.4:c.5A>T, XM_011525501.3:c.5A>C, XM_011525501.3:c.5A>G, XM_011525501.3:c.5A>T, XM_011525501.2:c.5A>C, XM_011525501.2:c.5A>G, XM_011525501.2:c.5A>T, XM_011525501.1:c.5A>C, XM_011525501.1:c.5A>G, XM_011525501.1:c.5A>T, XR_934616.4:n.38A>C, XR_934616.4:n.38A>G, XR_934616.4:n.38A>T, XR_934616.3:n.65A>C, XR_934616.3:n.65A>G, XR_934616.3:n.65A>T, XR_934616.2:n.90A>C, XR_934616.2:n.90A>G, XR_934616.2:n.90A>T, XR_934616.1:n.84A>C, XR_934616.1:n.84A>G, XR_934616.1:n.84A>T, XM_011525502.4:c.5A>C, XM_011525502.4:c.5A>G, XM_011525502.4:c.5A>T, XM_011525502.3:c.5A>C, XM_011525502.3:c.5A>G, XM_011525502.3:c.5A>T, XM_011525502.2:c.5A>C, XM_011525502.2:c.5A>G, XM_011525502.2:c.5A>T, XM_011525502.1:c.5A>C, XM_011525502.1:c.5A>G, XM_011525502.1:c.5A>T, XM_017025383.3:c.5A>C, XM_017025383.3:c.5A>G, XM_017025383.3:c.5A>T, XM_017025383.2:c.5A>C, XM_017025383.2:c.5A>G, XM_017025383.2:c.5A>T, XM_017025383.1:c.5A>C, XM_017025383.1:c.5A>G, XM_017025383.1:c.5A>T, XM_017025389.2:c.-98A>C, XM_017025389.2:c.-98A>G, XM_017025389.2:c.-98A>T, XM_017025389.1:c.-98A>C, XM_017025389.1:c.-98A>G, XM_017025389.1:c.-98A>T, XM_017025392.2:c.5A>C, XM_017025392.2:c.5A>G, XM_017025392.2:c.5A>T, XM_017025392.1:c.5A>C, XM_017025392.1:c.5A>G, XM_017025392.1:c.5A>T, XM_017025378.2:c.5A>C, XM_017025378.2:c.5A>G, XM_017025378.2:c.5A>T, XM_017025378.1:c.5A>C, XM_017025378.1:c.5A>G, XM_017025378.1:c.5A>T, XM_017025386.2:c.5A>C, XM_017025386.2:c.5A>G, XM_017025386.2:c.5A>T, XM_017025386.1:c.5A>C, XM_017025386.1:c.5A>G, XM_017025386.1:c.5A>T, XM_017025387.2:c.5A>C, XM_017025387.2:c.5A>G, XM_017025387.2:c.5A>T, XM_017025387.1:c.5A>C, XM_017025387.1:c.5A>G, XM_017025387.1:c.5A>T, XM_047437114.1:c.-461A>C, XM_047437114.1:c.-461A>G, XM_047437114.1:c.-461A>T, XM_047437115.1:c.-98A>C, XM_047437115.1:c.-98A>G, XM_047437115.1:c.-98A>T, XM_047437112.1:c.5A>C, XM_047437112.1:c.5A>G, XM_047437112.1:c.5A>T, XM_047437113.1:c.5A>C, XM_047437113.1:c.5A>G, XM_047437113.1:c.5A>T, XR_007065552.1:n.38A>C, XR_007065552.1:n.38A>G, XR_007065552.1:n.38A>T, XM_047437117.1:c.5A>C, XM_047437117.1:c.5A>G, XM_047437117.1:c.5A>T, XM_047437118.1:c.5A>C, XM_047437118.1:c.5A>G, XM_047437118.1:c.5A>T, XM_047437116.1:c.5A>C, XM_047437116.1:c.5A>G, XM_047437116.1:c.5A>T, XR_007065553.1:n.38A>C, XR_007065553.1:n.38A>G, XR_007065553.1:n.38A>T, XM_047437120.1:c.5A>C, XM_047437120.1:c.5A>G, XM_047437120.1:c.5A>T, XM_047437119.1:c.5A>C, XM_047437119.1:c.5A>G, XM_047437119.1:c.5A>T, NP_004278.2:p.Asp2Ala, NP_004278.2:p.Asp2Gly, NP_004278.2:p.Asp2Val, NP_473363.1:p.Asp2Ala, NP_473363.1:p.Asp2Gly, NP_473363.1:p.Asp2Val, NP_001012529.1:p.Asp2Ala, NP_001012529.1:p.Asp2Gly, NP_001012529.1:p.Asp2Val, NP_001340043.1:p.Asp2Ala, NP_001340043.1:p.Asp2Gly, NP_001340043.1:p.Asp2Val, NP_001317181.1:p.Asp2Ala, NP_001317181.1:p.Asp2Gly, NP_001317181.1:p.Asp2Val, NP_001340044.1:p.Asp2Ala, NP_001340044.1:p.Asp2Gly, NP_001340044.1:p.Asp2Val, NP_001340045.1:p.Asp2Ala, NP_001340045.1:p.Asp2Gly, NP_001340045.1:p.Asp2Val, NP_001308062.1:p.Asp2Ala, NP_001308062.1:p.Asp2Gly, NP_001308062.1:p.Asp2Val, XP_006722253.1:p.Asp2Ala, XP_006722253.1:p.Asp2Gly, XP_006722253.1:p.Asp2Val, XP_011523803.1:p.Asp2Ala, XP_011523803.1:p.Asp2Gly, XP_011523803.1:p.Asp2Val, XP_011523804.1:p.Asp2Ala, XP_011523804.1:p.Asp2Gly, XP_011523804.1:p.Asp2Val, XP_016880872.1:p.Asp2Ala, XP_016880872.1:p.Asp2Gly, XP_016880872.1:p.Asp2Val, XP_016880881.1:p.Asp2Ala, XP_016880881.1:p.Asp2Gly, XP_016880881.1:p.Asp2Val, XP_016880867.1:p.Asp2Ala, XP_016880867.1:p.Asp2Gly, XP_016880867.1:p.Asp2Val, XP_016880875.1:p.Asp2Ala, XP_016880875.1:p.Asp2Gly, XP_016880875.1:p.Asp2Val, XP_016880876.1:p.Asp2Ala, XP_016880876.1:p.Asp2Gly, XP_016880876.1:p.Asp2Val, XP_047293068.1:p.Asp2Ala, XP_047293068.1:p.Asp2Gly, XP_047293068.1:p.Asp2Val, XP_047293069.1:p.Asp2Ala, XP_047293069.1:p.Asp2Gly, XP_047293069.1:p.Asp2Val, XP_047293073.1:p.Asp2Ala, XP_047293073.1:p.Asp2Gly, XP_047293073.1:p.Asp2Val, XP_047293074.1:p.Asp2Ala, XP_047293074.1:p.Asp2Gly, XP_047293074.1:p.Asp2Val, XP_047293072.1:p.Asp2Ala, XP_047293072.1:p.Asp2Gly, XP_047293072.1:p.Asp2Val, XP_047293076.1:p.Asp2Ala, XP_047293076.1:p.Asp2Gly, XP_047293076.1:p.Asp2Val, XP_047293075.1:p.Asp2Ala, XP_047293075.1:p.Asp2Gly, XP_047293075.1:p.Asp2Val

                                    18.

                                    rs1410302971 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      17:46932152 (GRCh38)
                                      17:45009518 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:46932151:C:T
                                      Gene:
                                      GOSR2 (Varview), LRRC37A2 (Varview)
                                      Functional Consequence:
                                      stop_gained,intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.0002/1 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.46932152C>T, NC_000017.10:g.45009518C>T, NG_031806.2:g.14033C>T, NM_004287.5:c.289C>T, NM_004287.4:c.289C>T, NM_004287.3:c.289C>T, NM_054022.4:c.289C>T, NM_054022.3:c.289C>T, NM_054022.2:c.289C>T, NM_001012511.3:c.289C>T, NM_001012511.2:c.289C>T, NM_001012511.1:c.289C>T, NM_001363851.2:c.235C>T, NM_001363851.1:c.235C>T, NM_001353114.2:c.286C>T, NM_001353114.1:c.286C>T, NM_001321134.2:c.235C>T, NM_001321134.1:c.235C>T, NM_001330252.2:c.289C>T, NM_001330252.1:c.289C>T, NM_001353115.2:c.286C>T, NM_001353115.1:c.286C>T, NR_148349.2:n.322C>T, NR_148349.1:n.365C>T, NR_148350.2:n.322C>T, NR_148350.1:n.365C>T, NM_001353116.2:c.286C>T, NM_001353116.1:c.286C>T, NR_148351.2:n.322C>T, NR_148351.1:n.365C>T, NM_001321133.2:c.289C>T, NM_001321133.1:c.289C>T, XM_006722190.5:c.289C>T, XM_006722190.4:c.289C>T, XM_006722190.3:c.289C>T, XM_006722190.2:c.289C>T, XM_006722190.1:c.289C>T, XM_011525501.4:c.289C>T, XM_011525501.3:c.289C>T, XM_011525501.2:c.289C>T, XM_011525501.1:c.289C>T, XR_934616.4:n.322C>T, XR_934616.3:n.349C>T, XR_934616.2:n.374C>T, XR_934616.1:n.368C>T, XM_011525502.4:c.289C>T, XM_011525502.3:c.289C>T, XM_011525502.2:c.289C>T, XM_011525502.1:c.289C>T, XM_017025383.3:c.289C>T, XM_017025383.2:c.289C>T, XM_017025383.1:c.289C>T, XM_017025389.2:c.235C>T, XM_017025389.1:c.235C>T, XM_017025392.2:c.289C>T, XM_017025392.1:c.289C>T, XM_017025378.2:c.286C>T, XM_017025378.1:c.286C>T, XM_017025386.2:c.289C>T, XM_017025386.1:c.289C>T, XM_017025387.2:c.286C>T, XM_017025387.1:c.286C>T, XM_047437114.1:c.235C>T, XM_047437115.1:c.232C>T, XM_047437112.1:c.289C>T, XM_047437113.1:c.286C>T, XR_007065552.1:n.322C>T, XM_047437117.1:c.289C>T, XM_047437118.1:c.286C>T, XM_047437116.1:c.289C>T, XR_007065553.1:n.322C>T, XM_047437120.1:c.289C>T, XM_047437119.1:c.289C>T, NP_004278.2:p.Gln97Ter, NP_473363.1:p.Gln97Ter, NP_001012529.1:p.Gln97Ter, NP_001350780.1:p.Gln79Ter, NP_001340043.1:p.Gln96Ter, NP_001308063.1:p.Gln79Ter, NP_001317181.1:p.Gln97Ter, NP_001340044.1:p.Gln96Ter, NP_001340045.1:p.Gln96Ter, NP_001308062.1:p.Gln97Ter, XP_006722253.1:p.Gln97Ter, XP_011523803.1:p.Gln97Ter, XP_011523804.1:p.Gln97Ter, XP_016880872.1:p.Gln97Ter, XP_016880878.2:p.Gln79Ter, XP_016880881.1:p.Gln97Ter, XP_016880867.1:p.Gln96Ter, XP_016880875.1:p.Gln97Ter, XP_016880876.1:p.Gln96Ter, XP_047293070.1:p.Gln79Ter, XP_047293071.1:p.Gln78Ter, XP_047293068.1:p.Gln97Ter, XP_047293069.1:p.Gln96Ter, XP_047293073.1:p.Gln97Ter, XP_047293074.1:p.Gln96Ter, XP_047293072.1:p.Gln97Ter, XP_047293076.1:p.Gln97Ter, XP_047293075.1:p.Gln97Ter

                                      19.

                                      rs1407806851 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:46932092 (GRCh38)
                                        17:45009458 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:46932091:G:A
                                        Gene:
                                        GOSR2 (Varview), LRRC37A2 (Varview)
                                        Functional Consequence:
                                        intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000028/1 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000021/3 (GnomAD)
                                        A=0.00003/8 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.46932092G>A, NC_000017.10:g.45009458G>A, NG_031806.2:g.13973G>A, NM_004287.5:c.229G>A, NM_004287.4:c.229G>A, NM_004287.3:c.229G>A, NM_054022.4:c.229G>A, NM_054022.3:c.229G>A, NM_054022.2:c.229G>A, NM_001012511.3:c.229G>A, NM_001012511.2:c.229G>A, NM_001012511.1:c.229G>A, NM_001363851.2:c.175G>A, NM_001363851.1:c.175G>A, NM_001353114.2:c.226G>A, NM_001353114.1:c.226G>A, NM_001321134.2:c.175G>A, NM_001321134.1:c.175G>A, NM_001330252.2:c.229G>A, NM_001330252.1:c.229G>A, NM_001353115.2:c.226G>A, NM_001353115.1:c.226G>A, NR_148349.2:n.262G>A, NR_148349.1:n.305G>A, NR_148350.2:n.262G>A, NR_148350.1:n.305G>A, NM_001353116.2:c.226G>A, NM_001353116.1:c.226G>A, NR_148351.2:n.262G>A, NR_148351.1:n.305G>A, NM_001321133.2:c.229G>A, NM_001321133.1:c.229G>A, XM_006722190.5:c.229G>A, XM_006722190.4:c.229G>A, XM_006722190.3:c.229G>A, XM_006722190.2:c.229G>A, XM_006722190.1:c.229G>A, XM_011525501.4:c.229G>A, XM_011525501.3:c.229G>A, XM_011525501.2:c.229G>A, XM_011525501.1:c.229G>A, XR_934616.4:n.262G>A, XR_934616.3:n.289G>A, XR_934616.2:n.314G>A, XR_934616.1:n.308G>A, XM_011525502.4:c.229G>A, XM_011525502.3:c.229G>A, XM_011525502.2:c.229G>A, XM_011525502.1:c.229G>A, XM_017025383.3:c.229G>A, XM_017025383.2:c.229G>A, XM_017025383.1:c.229G>A, XM_017025389.2:c.175G>A, XM_017025389.1:c.175G>A, XM_017025392.2:c.229G>A, XM_017025392.1:c.229G>A, XM_017025378.2:c.226G>A, XM_017025378.1:c.226G>A, XM_017025386.2:c.229G>A, XM_017025386.1:c.229G>A, XM_017025387.2:c.226G>A, XM_017025387.1:c.226G>A, XM_047437114.1:c.175G>A, XM_047437115.1:c.172G>A, XM_047437112.1:c.229G>A, XM_047437113.1:c.226G>A, XR_007065552.1:n.262G>A, XM_047437117.1:c.229G>A, XM_047437118.1:c.226G>A, XM_047437116.1:c.229G>A, XR_007065553.1:n.262G>A, XM_047437120.1:c.229G>A, XM_047437119.1:c.229G>A, NP_004278.2:p.Val77Ile, NP_473363.1:p.Val77Ile, NP_001012529.1:p.Val77Ile, NP_001350780.1:p.Val59Ile, NP_001340043.1:p.Val76Ile, NP_001308063.1:p.Val59Ile, NP_001317181.1:p.Val77Ile, NP_001340044.1:p.Val76Ile, NP_001340045.1:p.Val76Ile, NP_001308062.1:p.Val77Ile, XP_006722253.1:p.Val77Ile, XP_011523803.1:p.Val77Ile, XP_011523804.1:p.Val77Ile, XP_016880872.1:p.Val77Ile, XP_016880878.2:p.Val59Ile, XP_016880881.1:p.Val77Ile, XP_016880867.1:p.Val76Ile, XP_016880875.1:p.Val77Ile, XP_016880876.1:p.Val76Ile, XP_047293070.1:p.Val59Ile, XP_047293071.1:p.Val58Ile, XP_047293068.1:p.Val77Ile, XP_047293069.1:p.Val76Ile, XP_047293073.1:p.Val77Ile, XP_047293074.1:p.Val76Ile, XP_047293072.1:p.Val77Ile, XP_047293076.1:p.Val77Ile, XP_047293075.1:p.Val77Ile

                                        20.

                                        rs1407783444 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:46938611 (GRCh38)
                                          17:45015977 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:46938610:A:G
                                          Gene:
                                          GOSR2 (Varview), LRRC37A2 (Varview)
                                          Functional Consequence:
                                          intron_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.46938611A>G, NC_000017.10:g.45015977A>G, NG_031806.2:g.20492A>G, NM_004287.5:c.490A>G, NM_004287.4:c.490A>G, NM_004287.3:c.490A>G, NM_054022.4:c.490A>G, NM_054022.3:c.490A>G, NM_054022.2:c.490A>G, NM_001363851.2:c.436A>G, NM_001363851.1:c.436A>G, NM_001353114.2:c.487A>G, NM_001353114.1:c.487A>G, NM_001321134.2:c.295A>G, NM_001321134.1:c.295A>G, NM_001330252.2:c.349A>G, NM_001330252.1:c.349A>G, NM_001353115.2:c.346A>G, NM_001353115.1:c.346A>G, NR_148349.2:n.523A>G, NR_148349.1:n.566A>G, NR_148350.2:n.382A>G, NR_148350.1:n.425A>G, NM_001353116.2:c.346A>G, NM_001353116.1:c.346A>G, NR_148351.2:n.382A>G, NR_148351.1:n.425A>G, NM_001321133.2:c.490A>G, NM_001321133.1:c.490A>G, XM_006722190.5:c.490A>G, XM_006722190.4:c.490A>G, XM_006722190.3:c.490A>G, XM_006722190.2:c.490A>G, XM_006722190.1:c.490A>G, XM_011525501.4:c.490A>G, XM_011525501.3:c.490A>G, XM_011525501.2:c.490A>G, XM_011525501.1:c.490A>G, XR_934616.4:n.523A>G, XR_934616.3:n.550A>G, XR_934616.2:n.575A>G, XR_934616.1:n.569A>G, XM_011525502.4:c.490A>G, XM_011525502.3:c.490A>G, XM_011525502.2:c.490A>G, XM_011525502.1:c.490A>G, XM_017025383.3:c.490A>G, XM_017025383.2:c.490A>G, XM_017025383.1:c.490A>G, XM_017025389.2:c.436A>G, XM_017025389.1:c.436A>G, XM_017025392.2:c.349A>G, XM_017025392.1:c.349A>G, XM_017025378.2:c.487A>G, XM_017025378.1:c.487A>G, XM_017025386.2:c.349A>G, XM_017025386.1:c.349A>G, XM_017025387.2:c.346A>G, XM_017025387.1:c.346A>G, XM_047437114.1:c.436A>G, XM_047437115.1:c.433A>G, XM_047437112.1:c.490A>G, XM_047437113.1:c.487A>G, XR_007065552.1:n.523A>G, XM_047437117.1:c.349A>G, XM_047437118.1:c.346A>G, XM_047437116.1:c.490A>G, XR_007065553.1:n.523A>G, XM_047437120.1:c.349A>G, XM_047437119.1:c.490A>G, NP_004278.2:p.Lys164Glu, NP_473363.1:p.Lys164Glu, NP_001350780.1:p.Lys146Glu, NP_001340043.1:p.Lys163Glu, NP_001308063.1:p.Lys99Glu, NP_001317181.1:p.Lys117Glu, NP_001340044.1:p.Lys116Glu, NP_001340045.1:p.Lys116Glu, NP_001308062.1:p.Lys164Glu, XP_006722253.1:p.Lys164Glu, XP_011523803.1:p.Lys164Glu, XP_011523804.1:p.Lys164Glu, XP_016880872.1:p.Lys164Glu, XP_016880878.2:p.Lys146Glu, XP_016880881.1:p.Lys117Glu, XP_016880867.1:p.Lys163Glu, XP_016880875.1:p.Lys117Glu, XP_016880876.1:p.Lys116Glu, XP_047293070.1:p.Lys146Glu, XP_047293071.1:p.Lys145Glu, XP_047293068.1:p.Lys164Glu, XP_047293069.1:p.Lys163Glu, XP_047293073.1:p.Lys117Glu, XP_047293074.1:p.Lys116Glu, XP_047293072.1:p.Lys164Glu, XP_047293076.1:p.Lys117Glu, XP_047293075.1:p.Lys164Glu

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