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Items: 1 to 20 of 1374

1.

rs1490668118 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:47281170 (GRCh38)
    1:47746842 (GRCh37)
    Canonical SPDI:
    NC_000001.11:47281169:C:T
    Gene:
    STIL (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000001.11:g.47281170C>T, NC_000001.10:g.47746842C>T, NG_012126.1:g.37978G>A, NM_003035.2:c.1288G>A, NM_001377417.1:c.1147G>A, NM_001282936.1:c.1288G>A, NM_001282937.1:c.1288G>A, NM_001282938.1:c.1147G>A, NM_001048166.1:c.1288G>A, NM_001282939.1:c.1147G>A, XM_006710834.4:c.1288G>A, XM_006710834.3:c.1288G>A, XM_006710834.2:c.1288G>A, XM_006710834.1:c.1288G>A, XM_011541991.3:c.1288G>A, XM_011541991.2:c.1288G>A, XM_011541991.1:c.1288G>A, XM_011541992.3:c.1288G>A, XM_011541992.2:c.1288G>A, XM_011541992.1:c.1288G>A, XM_011541994.3:c.1288G>A, XM_011541994.2:c.1288G>A, XM_011541994.1:c.1288G>A, XM_011541998.3:c.1147G>A, XM_011541998.2:c.1147G>A, XM_011541998.1:c.1147G>A, XM_011542001.2:c.1288G>A, XM_011542001.1:c.1288G>A, XM_017002126.2:c.1288G>A, XM_017002126.1:c.1288G>A, XM_017002124.2:c.577G>A, XM_017002124.1:c.577G>A, XM_047428310.1:c.1288G>A, XM_047428304.1:c.1288G>A, XM_047428359.1:c.1147G>A, XM_047428384.1:c.1147G>A, XM_047428348.1:c.1147G>A, XM_047428417.1:c.1147G>A, XM_047428433.1:c.1147G>A, XM_047428337.1:c.1288G>A, XM_047428312.1:c.1288G>A, XM_047428368.1:c.1147G>A, XM_047428300.1:c.1288G>A, XM_047428314.1:c.1288G>A, XM_047428403.1:c.1288G>A, XM_047428343.1:c.1147G>A, XM_047428374.1:c.1147G>A, XM_047428438.1:c.1147G>A, XM_047428390.1:c.1147G>A, XM_047428320.1:c.1288G>A, XM_047428316.1:c.1288G>A, XM_047428317.1:c.1288G>A, XM_047428331.1:c.1288G>A, XM_047428336.1:c.1288G>A, XM_047428377.1:c.1147G>A, XM_047428388.1:c.1147G>A, XM_047428344.1:c.1147G>A, XM_047428385.1:c.1147G>A, XM_047428392.1:c.1147G>A, XM_017002123.1:c.1147G>A, XM_047428398.1:c.1288G>A, XM_047428404.1:c.1288G>A, XM_047428408.1:c.1288G>A, XM_047428412.1:c.1288G>A, XM_047428426.1:c.1147G>A, XM_047428444.1:c.1147G>A, XM_047428414.1:c.1147G>A, XM_047428432.1:c.1147G>A, XM_047428440.1:c.1147G>A, XM_047428394.1:c.1288G>A, XM_017002127.1:c.1288G>A, NP_003026.2:p.Val430Met, NP_001364346.1:p.Val383Met, NP_001269865.1:p.Val430Met, NP_001269866.1:p.Val430Met, NP_001269867.1:p.Val383Met, NP_001041631.1:p.Val430Met, NP_001269868.1:p.Val383Met, XP_006710897.1:p.Val430Met, XP_011540293.1:p.Val430Met, XP_011540294.1:p.Val430Met, XP_011540296.1:p.Val430Met, XP_011540300.1:p.Val383Met, XP_011540303.1:p.Val430Met, XP_016857615.1:p.Val430Met, XP_016857613.1:p.Val193Met, XP_047284266.1:p.Val430Met, XP_047284260.1:p.Val430Met, XP_047284315.1:p.Val383Met, XP_047284340.1:p.Val383Met, XP_047284304.1:p.Val383Met, XP_047284373.1:p.Val383Met, XP_047284389.1:p.Val383Met, XP_047284293.1:p.Val430Met, XP_047284268.1:p.Val430Met, XP_047284324.1:p.Val383Met, XP_047284256.1:p.Val430Met, XP_047284270.1:p.Val430Met, XP_047284359.1:p.Val430Met, XP_047284299.1:p.Val383Met, XP_047284330.1:p.Val383Met, XP_047284394.1:p.Val383Met, XP_047284346.1:p.Val383Met, XP_047284276.1:p.Val430Met, XP_047284272.1:p.Val430Met, XP_047284273.1:p.Val430Met, XP_047284287.1:p.Val430Met, XP_047284292.1:p.Val430Met, XP_047284333.1:p.Val383Met, XP_047284344.1:p.Val383Met, XP_047284300.1:p.Val383Met, XP_047284341.1:p.Val383Met, XP_047284348.1:p.Val383Met, XP_016857612.1:p.Val383Met, XP_047284354.1:p.Val430Met, XP_047284360.1:p.Val430Met, XP_047284364.1:p.Val430Met, XP_047284368.1:p.Val430Met, XP_047284382.1:p.Val383Met, XP_047284400.1:p.Val383Met, XP_047284370.1:p.Val383Met, XP_047284388.1:p.Val383Met, XP_047284396.1:p.Val383Met, XP_047284350.1:p.Val430Met, XP_016857616.1:p.Val430Met

    2.

    rs1490127407 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C,G [Show Flanks]
      Chromosome:
      1:47263083 (GRCh38)
      1:47728755 (GRCh37)
      Canonical SPDI:
      NC_000001.11:47263082:A:C,NC_000001.11:47263082:A:G
      Gene:
      STIL (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.47263083A>C, NC_000001.11:g.47263083A>G, NC_000001.10:g.47728755A>C, NC_000001.10:g.47728755A>G, NG_012126.1:g.56065T>G, NG_012126.1:g.56065T>C, NM_003035.2:c.2646T>G, NM_003035.2:c.2646T>C, NM_001377417.1:c.2508T>G, NM_001377417.1:c.2508T>C, NM_001282936.1:c.2646T>G, NM_001282936.1:c.2646T>C, NM_001282938.1:c.2508T>G, NM_001282938.1:c.2508T>C, NM_001048166.1:c.2649T>G, NM_001048166.1:c.2649T>C, XM_006710834.4:c.2649T>G, XM_006710834.4:c.2649T>C, XM_006710834.3:c.2649T>G, XM_006710834.3:c.2649T>C, XM_006710834.2:c.2649T>G, XM_006710834.2:c.2649T>C, XM_006710834.1:c.2649T>G, XM_006710834.1:c.2649T>C, XM_011541991.3:c.2649T>G, XM_011541991.3:c.2649T>C, XM_011541991.2:c.2649T>G, XM_011541991.2:c.2649T>C, XM_011541991.1:c.2649T>G, XM_011541991.1:c.2649T>C, XM_011541992.3:c.2649T>G, XM_011541992.3:c.2649T>C, XM_011541992.2:c.2649T>G, XM_011541992.2:c.2649T>C, XM_011541992.1:c.2649T>G, XM_011541992.1:c.2649T>C, XM_011542001.2:c.2649T>G, XM_011542001.2:c.2649T>C, XM_011542001.1:c.2649T>G, XM_011542001.1:c.2649T>C, XM_017002124.2:c.1938T>G, XM_017002124.2:c.1938T>C, XM_017002124.1:c.1938T>G, XM_017002124.1:c.1938T>C, XM_047428310.1:c.2649T>G, XM_047428310.1:c.2649T>C, XM_047428304.1:c.2649T>G, XM_047428304.1:c.2649T>C, XM_047428359.1:c.2508T>G, XM_047428359.1:c.2508T>C, XM_047428384.1:c.2505T>G, XM_047428384.1:c.2505T>C, XM_047428348.1:c.2508T>G, XM_047428348.1:c.2508T>C, XM_047428417.1:c.2508T>G, XM_047428417.1:c.2508T>C, XM_047428433.1:c.2505T>G, XM_047428433.1:c.2505T>C, XM_047428312.1:c.2649T>G, XM_047428312.1:c.2649T>C, XM_047428368.1:c.2508T>G, XM_047428368.1:c.2508T>C, XM_047428300.1:c.2649T>G, XM_047428300.1:c.2649T>C, XM_047428314.1:c.2646T>G, XM_047428314.1:c.2646T>C, XM_047428403.1:c.2646T>G, XM_047428403.1:c.2646T>C, XM_047428343.1:c.2508T>G, XM_047428343.1:c.2508T>C, XM_047428374.1:c.2505T>G, XM_047428374.1:c.2505T>C, XM_047428438.1:c.2505T>G, XM_047428438.1:c.2505T>C, XM_047428320.1:c.2646T>G, XM_047428320.1:c.2646T>C, XM_047428316.1:c.2646T>G, XM_047428316.1:c.2646T>C, XM_047428317.1:c.2646T>G, XM_047428317.1:c.2646T>C, XM_047428377.1:c.2505T>G, XM_047428377.1:c.2505T>C, XM_047428388.1:c.2505T>G, XM_047428388.1:c.2505T>C, XM_047428344.1:c.2508T>G, XM_047428344.1:c.2508T>C, XM_047428385.1:c.2505T>G, XM_047428385.1:c.2505T>C, XM_017002123.1:c.2505T>G, XM_017002123.1:c.2505T>C, XM_047428398.1:c.2649T>G, XM_047428398.1:c.2649T>C, XM_047428404.1:c.2646T>G, XM_047428404.1:c.2646T>C, XM_047428426.1:c.2508T>G, XM_047428426.1:c.2508T>C, XM_047428414.1:c.2508T>G, XM_047428414.1:c.2508T>C, XM_047428432.1:c.2505T>G, XM_047428432.1:c.2505T>C, XM_047428394.1:c.2646T>G, XM_047428394.1:c.2646T>C, NP_003026.2:p.Asp882Glu, NP_001364346.1:p.Asp836Glu, NP_001269865.1:p.Asp882Glu, NP_001269867.1:p.Asp836Glu, NP_001041631.1:p.Asp883Glu, XP_006710897.1:p.Asp883Glu, XP_011540293.1:p.Asp883Glu, XP_011540294.1:p.Asp883Glu, XP_011540303.1:p.Asp883Glu, XP_016857613.1:p.Asp646Glu, XP_047284266.1:p.Asp883Glu, XP_047284260.1:p.Asp883Glu, XP_047284315.1:p.Asp836Glu, XP_047284340.1:p.Asp835Glu, XP_047284304.1:p.Asp836Glu, XP_047284373.1:p.Asp836Glu, XP_047284389.1:p.Asp835Glu, XP_047284268.1:p.Asp883Glu, XP_047284324.1:p.Asp836Glu, XP_047284256.1:p.Asp883Glu, XP_047284270.1:p.Asp882Glu, XP_047284359.1:p.Asp882Glu, XP_047284299.1:p.Asp836Glu, XP_047284330.1:p.Asp835Glu, XP_047284394.1:p.Asp835Glu, XP_047284276.1:p.Asp882Glu, XP_047284272.1:p.Asp882Glu, XP_047284273.1:p.Asp882Glu, XP_047284333.1:p.Asp835Glu, XP_047284344.1:p.Asp835Glu, XP_047284300.1:p.Asp836Glu, XP_047284341.1:p.Asp835Glu, XP_016857612.1:p.Asp835Glu, XP_047284354.1:p.Asp883Glu, XP_047284360.1:p.Asp882Glu, XP_047284382.1:p.Asp836Glu, XP_047284370.1:p.Asp836Glu, XP_047284388.1:p.Asp835Glu, XP_047284350.1:p.Asp882Glu

      3.

      rs1490049703 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:47251461 (GRCh38)
        1:47717133 (GRCh37)
        Canonical SPDI:
        NC_000001.11:47251460:C:G
        Gene:
        STIL (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000001.11:g.47251461C>G, NC_000001.10:g.47717133C>G, NG_012126.1:g.67687G>C, NM_003035.2:c.3539G>C, NM_001377417.1:c.3401G>C, NM_001282936.1:c.3539G>C, NM_001282937.1:c.3488G>C, NM_001282938.1:c.3401G>C, NM_001048166.1:c.3542G>C, NM_001282939.1:c.3347G>C, XM_006710834.4:c.3542G>C, XM_006710834.3:c.3542G>C, XM_006710834.2:c.3542G>C, XM_006710834.1:c.3542G>C, XM_011541991.3:c.3542G>C, XM_011541991.2:c.3542G>C, XM_011541991.1:c.3542G>C, XM_011541992.3:c.3542G>C, XM_011541992.2:c.3542G>C, XM_011541992.1:c.3542G>C, XM_011541994.3:c.3488G>C, XM_011541994.2:c.3488G>C, XM_011541994.1:c.3488G>C, XM_011541998.3:c.3347G>C, XM_011541998.2:c.3347G>C, XM_011541998.1:c.3347G>C, XM_011542001.2:c.*399G>C, XM_017002126.2:c.*399G>C, XM_017002126.1:c.*399G>C, XM_017002124.2:c.2831G>C, XM_017002124.1:c.2831G>C, XM_047428310.1:c.3542G>C, XM_047428304.1:c.3542G>C, XM_047428359.1:c.3401G>C, XM_047428384.1:c.3398G>C, XM_047428348.1:c.3401G>C, XM_047428417.1:c.*399G>C, XM_047428433.1:c.*399G>C, XM_047428337.1:c.3488G>C, XM_047428312.1:c.3542G>C, XM_047428368.1:c.3401G>C, XM_047428300.1:c.3542G>C, XM_047428314.1:c.3539G>C, XM_047428403.1:c.*399G>C, XM_047428343.1:c.3401G>C, XM_047428374.1:c.3398G>C, XM_047428438.1:c.*399G>C, XM_047428390.1:c.3347G>C, XM_047428320.1:c.3539G>C, XM_047428316.1:c.3539G>C, XM_047428317.1:c.3539G>C, XM_047428331.1:c.3488G>C, XM_047428336.1:c.3488G>C, XM_047428377.1:c.3398G>C, XM_047428388.1:c.3398G>C, XM_047428344.1:c.3401G>C, XM_047428385.1:c.3398G>C, XM_047428392.1:c.3347G>C, XM_017002123.1:c.3398G>C, XM_047428398.1:c.*399G>C, XM_047428404.1:c.*399G>C, XM_047428408.1:c.*399G>C, XM_047428412.1:c.*399G>C, XM_047428426.1:c.*399G>C, XM_047428444.1:c.*399G>C, XM_047428414.1:c.*399G>C, XM_047428432.1:c.*399G>C, XM_047428440.1:c.*399G>C, NP_003026.2:p.Cys1180Ser, NP_001364346.1:p.Cys1134Ser, NP_001269865.1:p.Cys1180Ser, NP_001269866.1:p.Cys1163Ser, NP_001269867.1:p.Cys1134Ser, NP_001041631.1:p.Cys1181Ser, NP_001269868.1:p.Cys1116Ser, XP_006710897.1:p.Cys1181Ser, XP_011540293.1:p.Cys1181Ser, XP_011540294.1:p.Cys1181Ser, XP_011540296.1:p.Cys1163Ser, XP_011540300.1:p.Cys1116Ser, XP_016857613.1:p.Cys944Ser, XP_047284266.1:p.Cys1181Ser, XP_047284260.1:p.Cys1181Ser, XP_047284315.1:p.Cys1134Ser, XP_047284340.1:p.Cys1133Ser, XP_047284304.1:p.Cys1134Ser, XP_047284293.1:p.Cys1163Ser, XP_047284268.1:p.Cys1181Ser, XP_047284324.1:p.Cys1134Ser, XP_047284256.1:p.Cys1181Ser, XP_047284270.1:p.Cys1180Ser, XP_047284299.1:p.Cys1134Ser, XP_047284330.1:p.Cys1133Ser, XP_047284346.1:p.Cys1116Ser, XP_047284276.1:p.Cys1180Ser, XP_047284272.1:p.Cys1180Ser, XP_047284273.1:p.Cys1180Ser, XP_047284287.1:p.Cys1163Ser, XP_047284292.1:p.Cys1163Ser, XP_047284333.1:p.Cys1133Ser, XP_047284344.1:p.Cys1133Ser, XP_047284300.1:p.Cys1134Ser, XP_047284341.1:p.Cys1133Ser, XP_047284348.1:p.Cys1116Ser, XP_016857612.1:p.Cys1133Ser

        4.

        rs1489983905 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:47250734 (GRCh38)
          1:47716406 (GRCh37)
          Canonical SPDI:
          NC_000001.11:47250733:C:T
          Gene:
          STIL (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000071/1 (ALFA)
          T=0.000011/3 (TOPMED)
          T=0.000014/2 (GnomAD)
          HGVS:
          NC_000001.11:g.47250734C>T, NC_000001.10:g.47716406C>T, NG_012126.1:g.68414G>A, NM_003035.2:c.*402G>A, NM_001377417.1:c.*402G>A, NM_001282936.1:c.*402G>A, NM_001282937.1:c.*402G>A, NM_001282938.1:c.*402G>A, NM_001048166.1:c.*402G>A, NM_001282939.1:c.*402G>A, XM_006710834.4:c.*402G>A, XM_006710834.2:c.*402G>A, XM_006710834.1:c.*402G>A, XM_011541991.3:c.*402G>A, XM_011541991.1:c.*402G>A, XM_011541992.3:c.*402G>A, XM_011541992.1:c.*402G>A, XM_011541994.3:c.*402G>A, XM_011541994.1:c.*402G>A, XM_011541998.3:c.*402G>A, XM_011541998.1:c.*402G>A, XM_011542001.2:c.*1126G>A, XM_017002126.2:c.*1126G>A, XM_017002124.2:c.*402G>A, XM_017002124.1:c.*402G>A, XM_047428310.1:c.*402G>A, XM_047428304.1:c.*402G>A, XM_047428359.1:c.*402G>A, XM_047428384.1:c.*402G>A, XM_047428348.1:c.*402G>A, XM_047428417.1:c.*1126G>A, XM_047428433.1:c.*1126G>A, XM_047428337.1:c.*402G>A, XM_047428312.1:c.*402G>A, XM_047428368.1:c.*402G>A, XM_047428300.1:c.*402G>A, XM_047428314.1:c.*402G>A, XM_047428403.1:c.*1126G>A, XM_047428343.1:c.*402G>A, XM_047428374.1:c.*402G>A, XM_047428438.1:c.*1126G>A, XM_047428390.1:c.*402G>A, XM_047428320.1:c.*402G>A, XM_047428316.1:c.*402G>A, XM_047428317.1:c.*402G>A, XM_047428331.1:c.*402G>A, XM_047428336.1:c.*402G>A, XM_047428377.1:c.*402G>A, XM_047428388.1:c.*402G>A, XM_047428344.1:c.*402G>A, XM_047428385.1:c.*402G>A, XM_047428392.1:c.*402G>A, XM_017002123.1:c.*402G>A, XM_047428398.1:c.*1126G>A, XM_047428404.1:c.*1126G>A, XM_047428408.1:c.*1126G>A, XM_047428412.1:c.*1126G>A, XM_047428426.1:c.*1126G>A, XM_047428444.1:c.*1126G>A, XM_047428414.1:c.*1126G>A, XM_047428432.1:c.*1126G>A, XM_047428440.1:c.*1126G>A

          5.

          rs1488881552 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,T [Show Flanks]
            Chromosome:
            1:47282406 (GRCh38)
            1:47748078 (GRCh37)
            Canonical SPDI:
            NC_000001.11:47282405:C:A,NC_000001.11:47282405:C:T
            Gene:
            STIL (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.47282406C>A, NC_000001.11:g.47282406C>T, NC_000001.10:g.47748078C>A, NC_000001.10:g.47748078C>T, NG_012126.1:g.36742G>T, NG_012126.1:g.36742G>A, NM_003035.2:c.1187G>T, NM_003035.2:c.1187G>A, NM_001377417.1:c.1046G>T, NM_001377417.1:c.1046G>A, NM_001282936.1:c.1187G>T, NM_001282936.1:c.1187G>A, NM_001282937.1:c.1187G>T, NM_001282937.1:c.1187G>A, NM_001282938.1:c.1046G>T, NM_001282938.1:c.1046G>A, NM_001048166.1:c.1187G>T, NM_001048166.1:c.1187G>A, NM_001282939.1:c.1046G>T, NM_001282939.1:c.1046G>A, XM_006710834.4:c.1187G>T, XM_006710834.4:c.1187G>A, XM_006710834.3:c.1187G>T, XM_006710834.3:c.1187G>A, XM_006710834.2:c.1187G>T, XM_006710834.2:c.1187G>A, XM_006710834.1:c.1187G>T, XM_006710834.1:c.1187G>A, XM_011541991.3:c.1187G>T, XM_011541991.3:c.1187G>A, XM_011541991.2:c.1187G>T, XM_011541991.2:c.1187G>A, XM_011541991.1:c.1187G>T, XM_011541991.1:c.1187G>A, XM_011541992.3:c.1187G>T, XM_011541992.3:c.1187G>A, XM_011541992.2:c.1187G>T, XM_011541992.2:c.1187G>A, XM_011541992.1:c.1187G>T, XM_011541992.1:c.1187G>A, XM_011541994.3:c.1187G>T, XM_011541994.3:c.1187G>A, XM_011541994.2:c.1187G>T, XM_011541994.2:c.1187G>A, XM_011541994.1:c.1187G>T, XM_011541994.1:c.1187G>A, XM_011541998.3:c.1046G>T, XM_011541998.3:c.1046G>A, XM_011541998.2:c.1046G>T, XM_011541998.2:c.1046G>A, XM_011541998.1:c.1046G>T, XM_011541998.1:c.1046G>A, XM_011542001.2:c.1187G>T, XM_011542001.2:c.1187G>A, XM_011542001.1:c.1187G>T, XM_011542001.1:c.1187G>A, XM_017002126.2:c.1187G>T, XM_017002126.2:c.1187G>A, XM_017002126.1:c.1187G>T, XM_017002126.1:c.1187G>A, XM_017002124.2:c.476G>T, XM_017002124.2:c.476G>A, XM_017002124.1:c.476G>T, XM_017002124.1:c.476G>A, XM_047428310.1:c.1187G>T, XM_047428310.1:c.1187G>A, XM_047428304.1:c.1187G>T, XM_047428304.1:c.1187G>A, XM_047428359.1:c.1046G>T, XM_047428359.1:c.1046G>A, XM_047428384.1:c.1046G>T, XM_047428384.1:c.1046G>A, XM_047428348.1:c.1046G>T, XM_047428348.1:c.1046G>A, XM_047428417.1:c.1046G>T, XM_047428417.1:c.1046G>A, XM_047428433.1:c.1046G>T, XM_047428433.1:c.1046G>A, XM_047428337.1:c.1187G>T, XM_047428337.1:c.1187G>A, XM_047428312.1:c.1187G>T, XM_047428312.1:c.1187G>A, XM_047428368.1:c.1046G>T, XM_047428368.1:c.1046G>A, XM_047428300.1:c.1187G>T, XM_047428300.1:c.1187G>A, XM_047428314.1:c.1187G>T, XM_047428314.1:c.1187G>A, XM_047428403.1:c.1187G>T, XM_047428403.1:c.1187G>A, XM_047428343.1:c.1046G>T, XM_047428343.1:c.1046G>A, XM_047428374.1:c.1046G>T, XM_047428374.1:c.1046G>A, XM_047428438.1:c.1046G>T, XM_047428438.1:c.1046G>A, XM_047428390.1:c.1046G>T, XM_047428390.1:c.1046G>A, XM_047428320.1:c.1187G>T, XM_047428320.1:c.1187G>A, XM_047428316.1:c.1187G>T, XM_047428316.1:c.1187G>A, XM_047428317.1:c.1187G>T, XM_047428317.1:c.1187G>A, XM_047428331.1:c.1187G>T, XM_047428331.1:c.1187G>A, XM_047428336.1:c.1187G>T, XM_047428336.1:c.1187G>A, XM_047428377.1:c.1046G>T, XM_047428377.1:c.1046G>A, XM_047428388.1:c.1046G>T, XM_047428388.1:c.1046G>A, XM_047428344.1:c.1046G>T, XM_047428344.1:c.1046G>A, XM_047428385.1:c.1046G>T, XM_047428385.1:c.1046G>A, XM_047428392.1:c.1046G>T, XM_047428392.1:c.1046G>A, XM_017002123.1:c.1046G>T, XM_017002123.1:c.1046G>A, XM_047428398.1:c.1187G>T, XM_047428398.1:c.1187G>A, XM_047428404.1:c.1187G>T, XM_047428404.1:c.1187G>A, XM_047428408.1:c.1187G>T, XM_047428408.1:c.1187G>A, XM_047428412.1:c.1187G>T, XM_047428412.1:c.1187G>A, XM_047428426.1:c.1046G>T, XM_047428426.1:c.1046G>A, XM_047428444.1:c.1046G>T, XM_047428444.1:c.1046G>A, XM_047428414.1:c.1046G>T, XM_047428414.1:c.1046G>A, XM_047428432.1:c.1046G>T, XM_047428432.1:c.1046G>A, XM_047428440.1:c.1046G>T, XM_047428440.1:c.1046G>A, XM_047428394.1:c.1187G>T, XM_047428394.1:c.1187G>A, XM_017002127.1:c.1187G>T, XM_017002127.1:c.1187G>A, NP_003026.2:p.Gly396Val, NP_003026.2:p.Gly396Asp, NP_001364346.1:p.Gly349Val, NP_001364346.1:p.Gly349Asp, NP_001269865.1:p.Gly396Val, NP_001269865.1:p.Gly396Asp, NP_001269866.1:p.Gly396Val, NP_001269866.1:p.Gly396Asp, NP_001269867.1:p.Gly349Val, NP_001269867.1:p.Gly349Asp, NP_001041631.1:p.Gly396Val, NP_001041631.1:p.Gly396Asp, NP_001269868.1:p.Gly349Val, NP_001269868.1:p.Gly349Asp, XP_006710897.1:p.Gly396Val, XP_006710897.1:p.Gly396Asp, XP_011540293.1:p.Gly396Val, XP_011540293.1:p.Gly396Asp, XP_011540294.1:p.Gly396Val, XP_011540294.1:p.Gly396Asp, XP_011540296.1:p.Gly396Val, XP_011540296.1:p.Gly396Asp, XP_011540300.1:p.Gly349Val, XP_011540300.1:p.Gly349Asp, XP_011540303.1:p.Gly396Val, XP_011540303.1:p.Gly396Asp, XP_016857615.1:p.Gly396Val, XP_016857615.1:p.Gly396Asp, XP_016857613.1:p.Gly159Val, XP_016857613.1:p.Gly159Asp, XP_047284266.1:p.Gly396Val, XP_047284266.1:p.Gly396Asp, XP_047284260.1:p.Gly396Val, XP_047284260.1:p.Gly396Asp, XP_047284315.1:p.Gly349Val, XP_047284315.1:p.Gly349Asp, XP_047284340.1:p.Gly349Val, XP_047284340.1:p.Gly349Asp, XP_047284304.1:p.Gly349Val, XP_047284304.1:p.Gly349Asp, XP_047284373.1:p.Gly349Val, XP_047284373.1:p.Gly349Asp, XP_047284389.1:p.Gly349Val, XP_047284389.1:p.Gly349Asp, XP_047284293.1:p.Gly396Val, XP_047284293.1:p.Gly396Asp, XP_047284268.1:p.Gly396Val, XP_047284268.1:p.Gly396Asp, XP_047284324.1:p.Gly349Val, XP_047284324.1:p.Gly349Asp, XP_047284256.1:p.Gly396Val, XP_047284256.1:p.Gly396Asp, XP_047284270.1:p.Gly396Val, XP_047284270.1:p.Gly396Asp, XP_047284359.1:p.Gly396Val, XP_047284359.1:p.Gly396Asp, XP_047284299.1:p.Gly349Val, XP_047284299.1:p.Gly349Asp, XP_047284330.1:p.Gly349Val, XP_047284330.1:p.Gly349Asp, XP_047284394.1:p.Gly349Val, XP_047284394.1:p.Gly349Asp, XP_047284346.1:p.Gly349Val, XP_047284346.1:p.Gly349Asp, XP_047284276.1:p.Gly396Val, XP_047284276.1:p.Gly396Asp, XP_047284272.1:p.Gly396Val, XP_047284272.1:p.Gly396Asp, XP_047284273.1:p.Gly396Val, XP_047284273.1:p.Gly396Asp, XP_047284287.1:p.Gly396Val, XP_047284287.1:p.Gly396Asp, XP_047284292.1:p.Gly396Val, XP_047284292.1:p.Gly396Asp, XP_047284333.1:p.Gly349Val, XP_047284333.1:p.Gly349Asp, XP_047284344.1:p.Gly349Val, XP_047284344.1:p.Gly349Asp, XP_047284300.1:p.Gly349Val, XP_047284300.1:p.Gly349Asp, XP_047284341.1:p.Gly349Val, XP_047284341.1:p.Gly349Asp, XP_047284348.1:p.Gly349Val, XP_047284348.1:p.Gly349Asp, XP_016857612.1:p.Gly349Val, XP_016857612.1:p.Gly349Asp, XP_047284354.1:p.Gly396Val, XP_047284354.1:p.Gly396Asp, XP_047284360.1:p.Gly396Val, XP_047284360.1:p.Gly396Asp, XP_047284364.1:p.Gly396Val, XP_047284364.1:p.Gly396Asp, XP_047284368.1:p.Gly396Val, XP_047284368.1:p.Gly396Asp, XP_047284382.1:p.Gly349Val, XP_047284382.1:p.Gly349Asp, XP_047284400.1:p.Gly349Val, XP_047284400.1:p.Gly349Asp, XP_047284370.1:p.Gly349Val, XP_047284370.1:p.Gly349Asp, XP_047284388.1:p.Gly349Val, XP_047284388.1:p.Gly349Asp, XP_047284396.1:p.Gly349Val, XP_047284396.1:p.Gly349Asp, XP_047284350.1:p.Gly396Val, XP_047284350.1:p.Gly396Asp, XP_016857616.1:p.Gly396Val, XP_016857616.1:p.Gly396Asp

            6.

            rs1488498399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              1:47280752 (GRCh38)
              1:47746424 (GRCh37)
              Canonical SPDI:
              NC_000001.11:47280751:G:T
              Gene:
              STIL (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000001.11:g.47280752G>T, NC_000001.10:g.47746424G>T, NG_012126.1:g.38396C>A, NM_003035.2:c.1706C>A, NM_001377417.1:c.1565C>A, NM_001282936.1:c.1706C>A, NM_001282937.1:c.1706C>A, NM_001282938.1:c.1565C>A, NM_001048166.1:c.1706C>A, NM_001282939.1:c.1565C>A, XM_006710834.4:c.1706C>A, XM_006710834.3:c.1706C>A, XM_006710834.2:c.1706C>A, XM_006710834.1:c.1706C>A, XM_011541991.3:c.1706C>A, XM_011541991.2:c.1706C>A, XM_011541991.1:c.1706C>A, XM_011541992.3:c.1706C>A, XM_011541992.2:c.1706C>A, XM_011541992.1:c.1706C>A, XM_011541994.3:c.1706C>A, XM_011541994.2:c.1706C>A, XM_011541994.1:c.1706C>A, XM_011541998.3:c.1565C>A, XM_011541998.2:c.1565C>A, XM_011541998.1:c.1565C>A, XM_011542001.2:c.1706C>A, XM_011542001.1:c.1706C>A, XM_017002126.2:c.1706C>A, XM_017002126.1:c.1706C>A, XM_017002124.2:c.995C>A, XM_017002124.1:c.995C>A, XM_047428310.1:c.1706C>A, XM_047428304.1:c.1706C>A, XM_047428359.1:c.1565C>A, XM_047428384.1:c.1565C>A, XM_047428348.1:c.1565C>A, XM_047428417.1:c.1565C>A, XM_047428433.1:c.1565C>A, XM_047428337.1:c.1706C>A, XM_047428312.1:c.1706C>A, XM_047428368.1:c.1565C>A, XM_047428300.1:c.1706C>A, XM_047428314.1:c.1706C>A, XM_047428403.1:c.1706C>A, XM_047428343.1:c.1565C>A, XM_047428374.1:c.1565C>A, XM_047428438.1:c.1565C>A, XM_047428390.1:c.1565C>A, XM_047428320.1:c.1706C>A, XM_047428316.1:c.1706C>A, XM_047428317.1:c.1706C>A, XM_047428331.1:c.1706C>A, XM_047428336.1:c.1706C>A, XM_047428377.1:c.1565C>A, XM_047428388.1:c.1565C>A, XM_047428344.1:c.1565C>A, XM_047428385.1:c.1565C>A, XM_047428392.1:c.1565C>A, XM_017002123.1:c.1565C>A, XM_047428398.1:c.1706C>A, XM_047428404.1:c.1706C>A, XM_047428408.1:c.1706C>A, XM_047428412.1:c.1706C>A, XM_047428426.1:c.1565C>A, XM_047428444.1:c.1565C>A, XM_047428414.1:c.1565C>A, XM_047428432.1:c.1565C>A, XM_047428440.1:c.1565C>A, XM_047428394.1:c.1706C>A, XM_017002127.1:c.1706C>A, NP_003026.2:p.Ser569Tyr, NP_001364346.1:p.Ser522Tyr, NP_001269865.1:p.Ser569Tyr, NP_001269866.1:p.Ser569Tyr, NP_001269867.1:p.Ser522Tyr, NP_001041631.1:p.Ser569Tyr, NP_001269868.1:p.Ser522Tyr, XP_006710897.1:p.Ser569Tyr, XP_011540293.1:p.Ser569Tyr, XP_011540294.1:p.Ser569Tyr, XP_011540296.1:p.Ser569Tyr, XP_011540300.1:p.Ser522Tyr, XP_011540303.1:p.Ser569Tyr, XP_016857615.1:p.Ser569Tyr, XP_016857613.1:p.Ser332Tyr, XP_047284266.1:p.Ser569Tyr, XP_047284260.1:p.Ser569Tyr, XP_047284315.1:p.Ser522Tyr, XP_047284340.1:p.Ser522Tyr, XP_047284304.1:p.Ser522Tyr, XP_047284373.1:p.Ser522Tyr, XP_047284389.1:p.Ser522Tyr, XP_047284293.1:p.Ser569Tyr, XP_047284268.1:p.Ser569Tyr, XP_047284324.1:p.Ser522Tyr, XP_047284256.1:p.Ser569Tyr, XP_047284270.1:p.Ser569Tyr, XP_047284359.1:p.Ser569Tyr, XP_047284299.1:p.Ser522Tyr, XP_047284330.1:p.Ser522Tyr, XP_047284394.1:p.Ser522Tyr, XP_047284346.1:p.Ser522Tyr, XP_047284276.1:p.Ser569Tyr, XP_047284272.1:p.Ser569Tyr, XP_047284273.1:p.Ser569Tyr, XP_047284287.1:p.Ser569Tyr, XP_047284292.1:p.Ser569Tyr, XP_047284333.1:p.Ser522Tyr, XP_047284344.1:p.Ser522Tyr, XP_047284300.1:p.Ser522Tyr, XP_047284341.1:p.Ser522Tyr, XP_047284348.1:p.Ser522Tyr, XP_016857612.1:p.Ser522Tyr, XP_047284354.1:p.Ser569Tyr, XP_047284360.1:p.Ser569Tyr, XP_047284364.1:p.Ser569Tyr, XP_047284368.1:p.Ser569Tyr, XP_047284382.1:p.Ser522Tyr, XP_047284400.1:p.Ser522Tyr, XP_047284370.1:p.Ser522Tyr, XP_047284388.1:p.Ser522Tyr, XP_047284396.1:p.Ser522Tyr, XP_047284350.1:p.Ser569Tyr, XP_016857616.1:p.Ser569Tyr

              7.

              rs1488492578 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:47280762 (GRCh38)
                1:47746434 (GRCh37)
                Canonical SPDI:
                NC_000001.11:47280761:C:T
                Gene:
                STIL (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000015/4 (TOPMED)
                HGVS:
                NC_000001.11:g.47280762C>T, NC_000001.10:g.47746434C>T, NG_012126.1:g.38386G>A, NM_003035.2:c.1696G>A, NM_001377417.1:c.1555G>A, NM_001282936.1:c.1696G>A, NM_001282937.1:c.1696G>A, NM_001282938.1:c.1555G>A, NM_001048166.1:c.1696G>A, NM_001282939.1:c.1555G>A, XM_006710834.4:c.1696G>A, XM_006710834.3:c.1696G>A, XM_006710834.2:c.1696G>A, XM_006710834.1:c.1696G>A, XM_011541991.3:c.1696G>A, XM_011541991.2:c.1696G>A, XM_011541991.1:c.1696G>A, XM_011541992.3:c.1696G>A, XM_011541992.2:c.1696G>A, XM_011541992.1:c.1696G>A, XM_011541994.3:c.1696G>A, XM_011541994.2:c.1696G>A, XM_011541994.1:c.1696G>A, XM_011541998.3:c.1555G>A, XM_011541998.2:c.1555G>A, XM_011541998.1:c.1555G>A, XM_011542001.2:c.1696G>A, XM_011542001.1:c.1696G>A, XM_017002126.2:c.1696G>A, XM_017002126.1:c.1696G>A, XM_017002124.2:c.985G>A, XM_017002124.1:c.985G>A, XM_047428310.1:c.1696G>A, XM_047428304.1:c.1696G>A, XM_047428359.1:c.1555G>A, XM_047428384.1:c.1555G>A, XM_047428348.1:c.1555G>A, XM_047428417.1:c.1555G>A, XM_047428433.1:c.1555G>A, XM_047428337.1:c.1696G>A, XM_047428312.1:c.1696G>A, XM_047428368.1:c.1555G>A, XM_047428300.1:c.1696G>A, XM_047428314.1:c.1696G>A, XM_047428403.1:c.1696G>A, XM_047428343.1:c.1555G>A, XM_047428374.1:c.1555G>A, XM_047428438.1:c.1555G>A, XM_047428390.1:c.1555G>A, XM_047428320.1:c.1696G>A, XM_047428316.1:c.1696G>A, XM_047428317.1:c.1696G>A, XM_047428331.1:c.1696G>A, XM_047428336.1:c.1696G>A, XM_047428377.1:c.1555G>A, XM_047428388.1:c.1555G>A, XM_047428344.1:c.1555G>A, XM_047428385.1:c.1555G>A, XM_047428392.1:c.1555G>A, XM_017002123.1:c.1555G>A, XM_047428398.1:c.1696G>A, XM_047428404.1:c.1696G>A, XM_047428408.1:c.1696G>A, XM_047428412.1:c.1696G>A, XM_047428426.1:c.1555G>A, XM_047428444.1:c.1555G>A, XM_047428414.1:c.1555G>A, XM_047428432.1:c.1555G>A, XM_047428440.1:c.1555G>A, XM_047428394.1:c.1696G>A, XM_017002127.1:c.1696G>A, NP_003026.2:p.Ala566Thr, NP_001364346.1:p.Ala519Thr, NP_001269865.1:p.Ala566Thr, NP_001269866.1:p.Ala566Thr, NP_001269867.1:p.Ala519Thr, NP_001041631.1:p.Ala566Thr, NP_001269868.1:p.Ala519Thr, XP_006710897.1:p.Ala566Thr, XP_011540293.1:p.Ala566Thr, XP_011540294.1:p.Ala566Thr, XP_011540296.1:p.Ala566Thr, XP_011540300.1:p.Ala519Thr, XP_011540303.1:p.Ala566Thr, XP_016857615.1:p.Ala566Thr, XP_016857613.1:p.Ala329Thr, XP_047284266.1:p.Ala566Thr, XP_047284260.1:p.Ala566Thr, XP_047284315.1:p.Ala519Thr, XP_047284340.1:p.Ala519Thr, XP_047284304.1:p.Ala519Thr, XP_047284373.1:p.Ala519Thr, XP_047284389.1:p.Ala519Thr, XP_047284293.1:p.Ala566Thr, XP_047284268.1:p.Ala566Thr, XP_047284324.1:p.Ala519Thr, XP_047284256.1:p.Ala566Thr, XP_047284270.1:p.Ala566Thr, XP_047284359.1:p.Ala566Thr, XP_047284299.1:p.Ala519Thr, XP_047284330.1:p.Ala519Thr, XP_047284394.1:p.Ala519Thr, XP_047284346.1:p.Ala519Thr, XP_047284276.1:p.Ala566Thr, XP_047284272.1:p.Ala566Thr, XP_047284273.1:p.Ala566Thr, XP_047284287.1:p.Ala566Thr, XP_047284292.1:p.Ala566Thr, XP_047284333.1:p.Ala519Thr, XP_047284344.1:p.Ala519Thr, XP_047284300.1:p.Ala519Thr, XP_047284341.1:p.Ala519Thr, XP_047284348.1:p.Ala519Thr, XP_016857612.1:p.Ala519Thr, XP_047284354.1:p.Ala566Thr, XP_047284360.1:p.Ala566Thr, XP_047284364.1:p.Ala566Thr, XP_047284368.1:p.Ala566Thr, XP_047284382.1:p.Ala519Thr, XP_047284400.1:p.Ala519Thr, XP_047284370.1:p.Ala519Thr, XP_047284388.1:p.Ala519Thr, XP_047284396.1:p.Ala519Thr, XP_047284350.1:p.Ala566Thr, XP_016857616.1:p.Ala566Thr

                8.

                rs1487169829 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:47289538 (GRCh38)
                  1:47755210 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:47289537:G:A,NC_000001.11:47289537:G:T
                  Gene:
                  STIL (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.47289538G>A, NC_000001.11:g.47289538G>T, NC_000001.10:g.47755210G>A, NC_000001.10:g.47755210G>T, NG_012126.1:g.29610C>T, NG_012126.1:g.29610C>A, NM_003035.2:c.920C>T, NM_003035.2:c.920C>A, NM_001377417.1:c.779C>T, NM_001377417.1:c.779C>A, NM_001282936.1:c.920C>T, NM_001282936.1:c.920C>A, NM_001282937.1:c.920C>T, NM_001282937.1:c.920C>A, NM_001282938.1:c.779C>T, NM_001282938.1:c.779C>A, NM_001048166.1:c.920C>T, NM_001048166.1:c.920C>A, NM_001282939.1:c.779C>T, NM_001282939.1:c.779C>A, XM_006710834.4:c.920C>T, XM_006710834.4:c.920C>A, XM_006710834.3:c.920C>T, XM_006710834.3:c.920C>A, XM_006710834.2:c.920C>T, XM_006710834.2:c.920C>A, XM_006710834.1:c.920C>T, XM_006710834.1:c.920C>A, XM_011541991.3:c.920C>T, XM_011541991.3:c.920C>A, XM_011541991.2:c.920C>T, XM_011541991.2:c.920C>A, XM_011541991.1:c.920C>T, XM_011541991.1:c.920C>A, XM_011541992.3:c.920C>T, XM_011541992.3:c.920C>A, XM_011541992.2:c.920C>T, XM_011541992.2:c.920C>A, XM_011541992.1:c.920C>T, XM_011541992.1:c.920C>A, XM_011541994.3:c.920C>T, XM_011541994.3:c.920C>A, XM_011541994.2:c.920C>T, XM_011541994.2:c.920C>A, XM_011541994.1:c.920C>T, XM_011541994.1:c.920C>A, XM_011541998.3:c.779C>T, XM_011541998.3:c.779C>A, XM_011541998.2:c.779C>T, XM_011541998.2:c.779C>A, XM_011541998.1:c.779C>T, XM_011541998.1:c.779C>A, XM_011542001.2:c.920C>T, XM_011542001.2:c.920C>A, XM_011542001.1:c.920C>T, XM_011542001.1:c.920C>A, XM_017002126.2:c.920C>T, XM_017002126.2:c.920C>A, XM_017002126.1:c.920C>T, XM_017002126.1:c.920C>A, XM_017002124.2:c.209C>T, XM_017002124.2:c.209C>A, XM_017002124.1:c.209C>T, XM_017002124.1:c.209C>A, XM_047428310.1:c.920C>T, XM_047428310.1:c.920C>A, XM_047428304.1:c.920C>T, XM_047428304.1:c.920C>A, XM_047428359.1:c.779C>T, XM_047428359.1:c.779C>A, XM_047428384.1:c.779C>T, XM_047428384.1:c.779C>A, XM_047428348.1:c.779C>T, XM_047428348.1:c.779C>A, XM_047428417.1:c.779C>T, XM_047428417.1:c.779C>A, XM_047428433.1:c.779C>T, XM_047428433.1:c.779C>A, XM_047428337.1:c.920C>T, XM_047428337.1:c.920C>A, XM_047428312.1:c.920C>T, XM_047428312.1:c.920C>A, XM_047428368.1:c.779C>T, XM_047428368.1:c.779C>A, XM_047428300.1:c.920C>T, XM_047428300.1:c.920C>A, XM_047428314.1:c.920C>T, XM_047428314.1:c.920C>A, XM_047428403.1:c.920C>T, XM_047428403.1:c.920C>A, XM_047428343.1:c.779C>T, XM_047428343.1:c.779C>A, XM_047428374.1:c.779C>T, XM_047428374.1:c.779C>A, XM_047428438.1:c.779C>T, XM_047428438.1:c.779C>A, XM_047428390.1:c.779C>T, XM_047428390.1:c.779C>A, XM_047428320.1:c.920C>T, XM_047428320.1:c.920C>A, XM_047428316.1:c.920C>T, XM_047428316.1:c.920C>A, XM_047428317.1:c.920C>T, XM_047428317.1:c.920C>A, XM_047428331.1:c.920C>T, XM_047428331.1:c.920C>A, XM_047428336.1:c.920C>T, XM_047428336.1:c.920C>A, XM_047428377.1:c.779C>T, XM_047428377.1:c.779C>A, XM_047428388.1:c.779C>T, XM_047428388.1:c.779C>A, XM_047428344.1:c.779C>T, XM_047428344.1:c.779C>A, XM_047428385.1:c.779C>T, XM_047428385.1:c.779C>A, XM_047428392.1:c.779C>T, XM_047428392.1:c.779C>A, XM_017002123.1:c.779C>T, XM_017002123.1:c.779C>A, XM_047428398.1:c.920C>T, XM_047428398.1:c.920C>A, XM_047428404.1:c.920C>T, XM_047428404.1:c.920C>A, XM_047428408.1:c.920C>T, XM_047428408.1:c.920C>A, XM_047428412.1:c.920C>T, XM_047428412.1:c.920C>A, XM_047428426.1:c.779C>T, XM_047428426.1:c.779C>A, XM_047428444.1:c.779C>T, XM_047428444.1:c.779C>A, XM_047428414.1:c.779C>T, XM_047428414.1:c.779C>A, XM_047428432.1:c.779C>T, XM_047428432.1:c.779C>A, XM_047428440.1:c.779C>T, XM_047428440.1:c.779C>A, XM_047428394.1:c.920C>T, XM_047428394.1:c.920C>A, XM_017002127.1:c.920C>T, XM_017002127.1:c.920C>A, NP_003026.2:p.Thr307Ile, NP_003026.2:p.Thr307Lys, NP_001364346.1:p.Thr260Ile, NP_001364346.1:p.Thr260Lys, NP_001269865.1:p.Thr307Ile, NP_001269865.1:p.Thr307Lys, NP_001269866.1:p.Thr307Ile, NP_001269866.1:p.Thr307Lys, NP_001269867.1:p.Thr260Ile, NP_001269867.1:p.Thr260Lys, NP_001041631.1:p.Thr307Ile, NP_001041631.1:p.Thr307Lys, NP_001269868.1:p.Thr260Ile, NP_001269868.1:p.Thr260Lys, XP_006710897.1:p.Thr307Ile, XP_006710897.1:p.Thr307Lys, XP_011540293.1:p.Thr307Ile, XP_011540293.1:p.Thr307Lys, XP_011540294.1:p.Thr307Ile, XP_011540294.1:p.Thr307Lys, XP_011540296.1:p.Thr307Ile, XP_011540296.1:p.Thr307Lys, XP_011540300.1:p.Thr260Ile, XP_011540300.1:p.Thr260Lys, XP_011540303.1:p.Thr307Ile, XP_011540303.1:p.Thr307Lys, XP_016857615.1:p.Thr307Ile, XP_016857615.1:p.Thr307Lys, XP_016857613.1:p.Thr70Ile, XP_016857613.1:p.Thr70Lys, XP_047284266.1:p.Thr307Ile, XP_047284266.1:p.Thr307Lys, XP_047284260.1:p.Thr307Ile, XP_047284260.1:p.Thr307Lys, XP_047284315.1:p.Thr260Ile, XP_047284315.1:p.Thr260Lys, XP_047284340.1:p.Thr260Ile, XP_047284340.1:p.Thr260Lys, XP_047284304.1:p.Thr260Ile, XP_047284304.1:p.Thr260Lys, XP_047284373.1:p.Thr260Ile, XP_047284373.1:p.Thr260Lys, XP_047284389.1:p.Thr260Ile, XP_047284389.1:p.Thr260Lys, XP_047284293.1:p.Thr307Ile, XP_047284293.1:p.Thr307Lys, XP_047284268.1:p.Thr307Ile, XP_047284268.1:p.Thr307Lys, XP_047284324.1:p.Thr260Ile, XP_047284324.1:p.Thr260Lys, XP_047284256.1:p.Thr307Ile, XP_047284256.1:p.Thr307Lys, XP_047284270.1:p.Thr307Ile, XP_047284270.1:p.Thr307Lys, XP_047284359.1:p.Thr307Ile, XP_047284359.1:p.Thr307Lys, XP_047284299.1:p.Thr260Ile, XP_047284299.1:p.Thr260Lys, XP_047284330.1:p.Thr260Ile, XP_047284330.1:p.Thr260Lys, XP_047284394.1:p.Thr260Ile, XP_047284394.1:p.Thr260Lys, XP_047284346.1:p.Thr260Ile, XP_047284346.1:p.Thr260Lys, XP_047284276.1:p.Thr307Ile, XP_047284276.1:p.Thr307Lys, XP_047284272.1:p.Thr307Ile, XP_047284272.1:p.Thr307Lys, XP_047284273.1:p.Thr307Ile, XP_047284273.1:p.Thr307Lys, XP_047284287.1:p.Thr307Ile, XP_047284287.1:p.Thr307Lys, XP_047284292.1:p.Thr307Ile, XP_047284292.1:p.Thr307Lys, XP_047284333.1:p.Thr260Ile, XP_047284333.1:p.Thr260Lys, XP_047284344.1:p.Thr260Ile, XP_047284344.1:p.Thr260Lys, XP_047284300.1:p.Thr260Ile, XP_047284300.1:p.Thr260Lys, XP_047284341.1:p.Thr260Ile, XP_047284341.1:p.Thr260Lys, XP_047284348.1:p.Thr260Ile, XP_047284348.1:p.Thr260Lys, XP_016857612.1:p.Thr260Ile, XP_016857612.1:p.Thr260Lys, XP_047284354.1:p.Thr307Ile, XP_047284354.1:p.Thr307Lys, XP_047284360.1:p.Thr307Ile, XP_047284360.1:p.Thr307Lys, XP_047284364.1:p.Thr307Ile, XP_047284364.1:p.Thr307Lys, XP_047284368.1:p.Thr307Ile, XP_047284368.1:p.Thr307Lys, XP_047284382.1:p.Thr260Ile, XP_047284382.1:p.Thr260Lys, XP_047284400.1:p.Thr260Ile, XP_047284400.1:p.Thr260Lys, XP_047284370.1:p.Thr260Ile, XP_047284370.1:p.Thr260Lys, XP_047284388.1:p.Thr260Ile, XP_047284388.1:p.Thr260Lys, XP_047284396.1:p.Thr260Ile, XP_047284396.1:p.Thr260Lys, XP_047284350.1:p.Thr307Ile, XP_047284350.1:p.Thr307Lys, XP_016857616.1:p.Thr307Ile, XP_016857616.1:p.Thr307Lys

                  9.

                  rs1486960909 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAGTT>- [Show Flanks]
                    Chromosome:
                    1:47250390 (GRCh38)
                    1:47716062 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:47250387:TTAAGTT:TT
                    Gene:
                    STIL (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TT=0.000071/1 (ALFA)
                    -=0.000053/14 (TOPMED)
                    -=0.000093/13 (GnomAD)
                    -=0.000312/2 (1000Genomes)
                    HGVS:
                    NC_000001.11:g.47250390_47250394del, NC_000001.10:g.47716062_47716066del, NG_012126.1:g.68756_68760del, NM_003035.2:c.*744_*748del, NM_001377417.1:c.*744_*748del, NM_001282936.1:c.*744_*748del, NM_001282937.1:c.*744_*748del, NM_001282938.1:c.*744_*748del, NM_001048166.1:c.*744_*748del, NM_001282939.1:c.*744_*748del, XM_006710834.4:c.*744_*748del, XM_006710834.2:c.*744_*748del, XM_006710834.1:c.*744_*748del, XM_011541991.3:c.*744_*748del, XM_011541991.1:c.*744_*748del, XM_011541992.3:c.*744_*748del, XM_011541992.1:c.*744_*748del, XM_011541994.3:c.*744_*748del, XM_011541994.1:c.*744_*748del, XM_011541998.3:c.*744_*748del, XM_011541998.1:c.*744_*748del, XM_011542001.2:c.*1468_*1472del, XM_017002126.2:c.*1468_*1472del, XM_017002124.2:c.*744_*748del, XM_017002124.1:c.*744_*748del, XM_047428310.1:c.*744_*748del, XM_047428304.1:c.*744_*748del, XM_047428359.1:c.*744_*748del, XM_047428384.1:c.*744_*748del, XM_047428348.1:c.*744_*748del, XM_047428417.1:c.*1468_*1472del, XM_047428433.1:c.*1468_*1472del, XM_047428337.1:c.*744_*748del, XM_047428312.1:c.*744_*748del, XM_047428368.1:c.*744_*748del, XM_047428300.1:c.*744_*748del, XM_047428314.1:c.*744_*748del, XM_047428403.1:c.*1468_*1472del, XM_047428343.1:c.*744_*748del, XM_047428374.1:c.*744_*748del, XM_047428438.1:c.*1468_*1472del, XM_047428390.1:c.*744_*748del, XM_047428320.1:c.*744_*748del, XM_047428316.1:c.*744_*748del, XM_047428317.1:c.*744_*748del, XM_047428331.1:c.*744_*748del, XM_047428336.1:c.*744_*748del, XM_047428377.1:c.*744_*748del, XM_047428388.1:c.*744_*748del, XM_047428344.1:c.*744_*748del, XM_047428385.1:c.*744_*748del, XM_047428392.1:c.*744_*748del, XM_017002123.1:c.*744_*748del, XM_047428398.1:c.*1468_*1472del, XM_047428404.1:c.*1468_*1472del, XM_047428408.1:c.*1468_*1472del, XM_047428412.1:c.*1468_*1472del, XM_047428426.1:c.*1468_*1472del, XM_047428444.1:c.*1468_*1472del, XM_047428414.1:c.*1468_*1472del, XM_047428432.1:c.*1468_*1472del, XM_047428440.1:c.*1468_*1472del

                    10.

                    rs1486923111 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      1:47280612 (GRCh38)
                      1:47746284 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:47280611:G:C
                      Gene:
                      STIL (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.47280612G>C, NC_000001.10:g.47746284G>C, NG_012126.1:g.38536C>G, NM_003035.2:c.1846C>G, NM_001377417.1:c.1705C>G, NM_001282936.1:c.1846C>G, NM_001282937.1:c.1846C>G, NM_001282938.1:c.1705C>G, NM_001048166.1:c.1846C>G, NM_001282939.1:c.1705C>G, XM_006710834.4:c.1846C>G, XM_006710834.3:c.1846C>G, XM_006710834.2:c.1846C>G, XM_006710834.1:c.1846C>G, XM_011541991.3:c.1846C>G, XM_011541991.2:c.1846C>G, XM_011541991.1:c.1846C>G, XM_011541992.3:c.1846C>G, XM_011541992.2:c.1846C>G, XM_011541992.1:c.1846C>G, XM_011541994.3:c.1846C>G, XM_011541994.2:c.1846C>G, XM_011541994.1:c.1846C>G, XM_011541998.3:c.1705C>G, XM_011541998.2:c.1705C>G, XM_011541998.1:c.1705C>G, XM_011542001.2:c.1846C>G, XM_011542001.1:c.1846C>G, XM_017002126.2:c.1846C>G, XM_017002126.1:c.1846C>G, XM_017002124.2:c.1135C>G, XM_017002124.1:c.1135C>G, XM_047428310.1:c.1846C>G, XM_047428304.1:c.1846C>G, XM_047428359.1:c.1705C>G, XM_047428384.1:c.1705C>G, XM_047428348.1:c.1705C>G, XM_047428417.1:c.1705C>G, XM_047428433.1:c.1705C>G, XM_047428337.1:c.1846C>G, XM_047428312.1:c.1846C>G, XM_047428368.1:c.1705C>G, XM_047428300.1:c.1846C>G, XM_047428314.1:c.1846C>G, XM_047428403.1:c.1846C>G, XM_047428343.1:c.1705C>G, XM_047428374.1:c.1705C>G, XM_047428438.1:c.1705C>G, XM_047428390.1:c.1705C>G, XM_047428320.1:c.1846C>G, XM_047428316.1:c.1846C>G, XM_047428317.1:c.1846C>G, XM_047428331.1:c.1846C>G, XM_047428336.1:c.1846C>G, XM_047428377.1:c.1705C>G, XM_047428388.1:c.1705C>G, XM_047428344.1:c.1705C>G, XM_047428385.1:c.1705C>G, XM_047428392.1:c.1705C>G, XM_017002123.1:c.1705C>G, XM_047428398.1:c.1846C>G, XM_047428404.1:c.1846C>G, XM_047428408.1:c.1846C>G, XM_047428412.1:c.1846C>G, XM_047428426.1:c.1705C>G, XM_047428444.1:c.1705C>G, XM_047428414.1:c.1705C>G, XM_047428432.1:c.1705C>G, XM_047428440.1:c.1705C>G, XM_047428394.1:c.1846C>G, XM_017002127.1:c.1846C>G, NP_003026.2:p.Pro616Ala, NP_001364346.1:p.Pro569Ala, NP_001269865.1:p.Pro616Ala, NP_001269866.1:p.Pro616Ala, NP_001269867.1:p.Pro569Ala, NP_001041631.1:p.Pro616Ala, NP_001269868.1:p.Pro569Ala, XP_006710897.1:p.Pro616Ala, XP_011540293.1:p.Pro616Ala, XP_011540294.1:p.Pro616Ala, XP_011540296.1:p.Pro616Ala, XP_011540300.1:p.Pro569Ala, XP_011540303.1:p.Pro616Ala, XP_016857615.1:p.Pro616Ala, XP_016857613.1:p.Pro379Ala, XP_047284266.1:p.Pro616Ala, XP_047284260.1:p.Pro616Ala, XP_047284315.1:p.Pro569Ala, XP_047284340.1:p.Pro569Ala, XP_047284304.1:p.Pro569Ala, XP_047284373.1:p.Pro569Ala, XP_047284389.1:p.Pro569Ala, XP_047284293.1:p.Pro616Ala, XP_047284268.1:p.Pro616Ala, XP_047284324.1:p.Pro569Ala, XP_047284256.1:p.Pro616Ala, XP_047284270.1:p.Pro616Ala, XP_047284359.1:p.Pro616Ala, XP_047284299.1:p.Pro569Ala, XP_047284330.1:p.Pro569Ala, XP_047284394.1:p.Pro569Ala, XP_047284346.1:p.Pro569Ala, XP_047284276.1:p.Pro616Ala, XP_047284272.1:p.Pro616Ala, XP_047284273.1:p.Pro616Ala, XP_047284287.1:p.Pro616Ala, XP_047284292.1:p.Pro616Ala, XP_047284333.1:p.Pro569Ala, XP_047284344.1:p.Pro569Ala, XP_047284300.1:p.Pro569Ala, XP_047284341.1:p.Pro569Ala, XP_047284348.1:p.Pro569Ala, XP_016857612.1:p.Pro569Ala, XP_047284354.1:p.Pro616Ala, XP_047284360.1:p.Pro616Ala, XP_047284364.1:p.Pro616Ala, XP_047284368.1:p.Pro616Ala, XP_047284382.1:p.Pro569Ala, XP_047284400.1:p.Pro569Ala, XP_047284370.1:p.Pro569Ala, XP_047284388.1:p.Pro569Ala, XP_047284396.1:p.Pro569Ala, XP_047284350.1:p.Pro616Ala, XP_016857616.1:p.Pro616Ala

                      11.

                      rs1486888402 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:47250193 (GRCh38)
                        1:47715865 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:47250192:C:G
                        Gene:
                        STIL (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000001.11:g.47250193C>G, NC_000001.10:g.47715865C>G, NG_012126.1:g.68955G>C, NM_003035.2:c.*943G>C, NM_001377417.1:c.*943G>C, NM_001282936.1:c.*943G>C, NM_001282937.1:c.*943G>C, NM_001282938.1:c.*943G>C, NM_001048166.1:c.*943G>C, NM_001282939.1:c.*943G>C, XM_006710834.4:c.*943G>C, XM_006710834.2:c.*943G>C, XM_006710834.1:c.*943G>C, XM_011541991.3:c.*943G>C, XM_011541991.1:c.*943G>C, XM_011541992.3:c.*943G>C, XM_011541992.1:c.*943G>C, XM_011541994.3:c.*943G>C, XM_011541994.1:c.*943G>C, XM_011541998.3:c.*943G>C, XM_011541998.1:c.*943G>C, XM_011542001.2:c.*1667G>C, XM_017002126.2:c.*1667G>C, XM_017002124.2:c.*943G>C, XM_017002124.1:c.*943G>C, XM_047428310.1:c.*943G>C, XM_047428304.1:c.*943G>C, XM_047428359.1:c.*943G>C, XM_047428384.1:c.*943G>C, XM_047428348.1:c.*943G>C, XM_047428417.1:c.*1667G>C, XM_047428433.1:c.*1667G>C, XM_047428337.1:c.*943G>C, XM_047428312.1:c.*943G>C, XM_047428368.1:c.*943G>C, XM_047428300.1:c.*943G>C, XM_047428314.1:c.*943G>C, XM_047428403.1:c.*1667G>C, XM_047428343.1:c.*943G>C, XM_047428374.1:c.*943G>C, XM_047428438.1:c.*1667G>C, XM_047428390.1:c.*943G>C, XM_047428320.1:c.*943G>C, XM_047428316.1:c.*943G>C, XM_047428317.1:c.*943G>C, XM_047428331.1:c.*943G>C, XM_047428336.1:c.*943G>C, XM_047428377.1:c.*943G>C, XM_047428388.1:c.*943G>C, XM_047428344.1:c.*943G>C, XM_047428385.1:c.*943G>C, XM_047428392.1:c.*943G>C, XM_017002123.1:c.*943G>C, XM_047428398.1:c.*1667G>C, XM_047428404.1:c.*1667G>C, XM_047428408.1:c.*1667G>C, XM_047428412.1:c.*1667G>C, XM_047428426.1:c.*1667G>C, XM_047428444.1:c.*1667G>C, XM_047428414.1:c.*1667G>C, XM_047428432.1:c.*1667G>C, XM_047428440.1:c.*1667G>C

                        12.

                        rs1486714218 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:47313134 (GRCh38)
                          1:47778806 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:47313133:A:G
                          Gene:
                          STIL (Varview)
                          Functional Consequence:
                          intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1486452015 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:47260295 (GRCh38)
                            1:47725967 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:47260294:T:C
                            Gene:
                            STIL (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,missense_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_000001.11:g.47260295T>C, NC_000001.10:g.47725967T>C, NG_012126.1:g.58853A>G, NM_003035.2:c.3071A>G, NM_001377417.1:c.2933A>G, NM_001282936.1:c.3071A>G, NM_001282937.1:c.3020A>G, NM_001282938.1:c.2933A>G, NM_001048166.1:c.3074A>G, NM_001282939.1:c.2879A>G, XM_006710834.4:c.3074A>G, XM_006710834.3:c.3074A>G, XM_006710834.2:c.3074A>G, XM_006710834.1:c.3074A>G, XM_011541991.3:c.3074A>G, XM_011541991.2:c.3074A>G, XM_011541991.1:c.3074A>G, XM_011541992.3:c.3074A>G, XM_011541992.2:c.3074A>G, XM_011541992.1:c.3074A>G, XM_011541994.3:c.3020A>G, XM_011541994.2:c.3020A>G, XM_011541994.1:c.3020A>G, XM_011541998.3:c.2879A>G, XM_011541998.2:c.2879A>G, XM_011541998.1:c.2879A>G, XM_017002124.2:c.2363A>G, XM_017002124.1:c.2363A>G, XM_047428310.1:c.3074A>G, XM_047428304.1:c.3074A>G, XM_047428359.1:c.2933A>G, XM_047428384.1:c.2930A>G, XM_047428348.1:c.2933A>G, XM_047428337.1:c.3020A>G, XM_047428312.1:c.3074A>G, XM_047428368.1:c.2933A>G, XM_047428300.1:c.3074A>G, XM_047428314.1:c.3071A>G, XM_047428343.1:c.2933A>G, XM_047428374.1:c.2930A>G, XM_047428390.1:c.2879A>G, XM_047428320.1:c.3071A>G, XM_047428316.1:c.3071A>G, XM_047428317.1:c.3071A>G, XM_047428331.1:c.3020A>G, XM_047428336.1:c.3020A>G, XM_047428377.1:c.2930A>G, XM_047428388.1:c.2930A>G, XM_047428344.1:c.2933A>G, XM_047428385.1:c.2930A>G, XM_047428392.1:c.2879A>G, XM_017002123.1:c.2930A>G, NP_003026.2:p.His1024Arg, NP_001364346.1:p.His978Arg, NP_001269865.1:p.His1024Arg, NP_001269866.1:p.His1007Arg, NP_001269867.1:p.His978Arg, NP_001041631.1:p.His1025Arg, NP_001269868.1:p.His960Arg, XP_006710897.1:p.His1025Arg, XP_011540293.1:p.His1025Arg, XP_011540294.1:p.His1025Arg, XP_011540296.1:p.His1007Arg, XP_011540300.1:p.His960Arg, XP_016857613.1:p.His788Arg, XP_047284266.1:p.His1025Arg, XP_047284260.1:p.His1025Arg, XP_047284315.1:p.His978Arg, XP_047284340.1:p.His977Arg, XP_047284304.1:p.His978Arg, XP_047284293.1:p.His1007Arg, XP_047284268.1:p.His1025Arg, XP_047284324.1:p.His978Arg, XP_047284256.1:p.His1025Arg, XP_047284270.1:p.His1024Arg, XP_047284299.1:p.His978Arg, XP_047284330.1:p.His977Arg, XP_047284346.1:p.His960Arg, XP_047284276.1:p.His1024Arg, XP_047284272.1:p.His1024Arg, XP_047284273.1:p.His1024Arg, XP_047284287.1:p.His1007Arg, XP_047284292.1:p.His1007Arg, XP_047284333.1:p.His977Arg, XP_047284344.1:p.His977Arg, XP_047284300.1:p.His978Arg, XP_047284341.1:p.His977Arg, XP_047284348.1:p.His960Arg, XP_016857612.1:p.His977Arg

                            14.

                            rs1484677966 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              1:47260515 (GRCh38)
                              1:47726187 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:47260514:T:A
                              Gene:
                              STIL (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
                              HGVS:
                              NC_000001.11:g.47260515T>A, NC_000001.10:g.47726187T>A, NG_012126.1:g.58633A>T, NM_003035.2:c.2851A>T, NM_001377417.1:c.2713A>T, NM_001282936.1:c.2851A>T, NM_001282937.1:c.2800A>T, NM_001282938.1:c.2713A>T, NM_001048166.1:c.2854A>T, NM_001282939.1:c.2659A>T, XM_006710834.4:c.2854A>T, XM_006710834.3:c.2854A>T, XM_006710834.2:c.2854A>T, XM_006710834.1:c.2854A>T, XM_011541991.3:c.2854A>T, XM_011541991.2:c.2854A>T, XM_011541991.1:c.2854A>T, XM_011541992.3:c.2854A>T, XM_011541992.2:c.2854A>T, XM_011541992.1:c.2854A>T, XM_011541994.3:c.2800A>T, XM_011541994.2:c.2800A>T, XM_011541994.1:c.2800A>T, XM_011541998.3:c.2659A>T, XM_011541998.2:c.2659A>T, XM_011541998.1:c.2659A>T, XM_017002124.2:c.2143A>T, XM_017002124.1:c.2143A>T, XM_047428310.1:c.2854A>T, XM_047428304.1:c.2854A>T, XM_047428359.1:c.2713A>T, XM_047428384.1:c.2710A>T, XM_047428348.1:c.2713A>T, XM_047428337.1:c.2800A>T, XM_047428312.1:c.2854A>T, XM_047428368.1:c.2713A>T, XM_047428300.1:c.2854A>T, XM_047428314.1:c.2851A>T, XM_047428343.1:c.2713A>T, XM_047428374.1:c.2710A>T, XM_047428390.1:c.2659A>T, XM_047428320.1:c.2851A>T, XM_047428316.1:c.2851A>T, XM_047428317.1:c.2851A>T, XM_047428331.1:c.2800A>T, XM_047428336.1:c.2800A>T, XM_047428377.1:c.2710A>T, XM_047428388.1:c.2710A>T, XM_047428344.1:c.2713A>T, XM_047428385.1:c.2710A>T, XM_047428392.1:c.2659A>T, XM_017002123.1:c.2710A>T, XM_047428394.1:c.*63A>T, NP_003026.2:p.Ser951Cys, NP_001364346.1:p.Ser905Cys, NP_001269865.1:p.Ser951Cys, NP_001269866.1:p.Ser934Cys, NP_001269867.1:p.Ser905Cys, NP_001041631.1:p.Ser952Cys, NP_001269868.1:p.Ser887Cys, XP_006710897.1:p.Ser952Cys, XP_011540293.1:p.Ser952Cys, XP_011540294.1:p.Ser952Cys, XP_011540296.1:p.Ser934Cys, XP_011540300.1:p.Ser887Cys, XP_016857613.1:p.Ser715Cys, XP_047284266.1:p.Ser952Cys, XP_047284260.1:p.Ser952Cys, XP_047284315.1:p.Ser905Cys, XP_047284340.1:p.Ser904Cys, XP_047284304.1:p.Ser905Cys, XP_047284293.1:p.Ser934Cys, XP_047284268.1:p.Ser952Cys, XP_047284324.1:p.Ser905Cys, XP_047284256.1:p.Ser952Cys, XP_047284270.1:p.Ser951Cys, XP_047284299.1:p.Ser905Cys, XP_047284330.1:p.Ser904Cys, XP_047284346.1:p.Ser887Cys, XP_047284276.1:p.Ser951Cys, XP_047284272.1:p.Ser951Cys, XP_047284273.1:p.Ser951Cys, XP_047284287.1:p.Ser934Cys, XP_047284292.1:p.Ser934Cys, XP_047284333.1:p.Ser904Cys, XP_047284344.1:p.Ser904Cys, XP_047284300.1:p.Ser905Cys, XP_047284341.1:p.Ser904Cys, XP_047284348.1:p.Ser887Cys, XP_016857612.1:p.Ser904Cys

                              15.

                              rs1484627010 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:47250436 (GRCh38)
                                1:47716108 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:47250435:A:G
                                Gene:
                                STIL (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.47250436A>G, NC_000001.10:g.47716108A>G, NG_012126.1:g.68712T>C, NM_003035.2:c.*700T>C, NM_001377417.1:c.*700T>C, NM_001282936.1:c.*700T>C, NM_001282937.1:c.*700T>C, NM_001282938.1:c.*700T>C, NM_001048166.1:c.*700T>C, NM_001282939.1:c.*700T>C, XM_006710834.4:c.*700T>C, XM_006710834.2:c.*700T>C, XM_006710834.1:c.*700T>C, XM_011541991.3:c.*700T>C, XM_011541991.1:c.*700T>C, XM_011541992.3:c.*700T>C, XM_011541992.1:c.*700T>C, XM_011541994.3:c.*700T>C, XM_011541994.1:c.*700T>C, XM_011541998.3:c.*700T>C, XM_011541998.1:c.*700T>C, XM_011542001.2:c.*1424T>C, XM_017002126.2:c.*1424T>C, XM_017002124.2:c.*700T>C, XM_017002124.1:c.*700T>C, XM_047428310.1:c.*700T>C, XM_047428304.1:c.*700T>C, XM_047428359.1:c.*700T>C, XM_047428384.1:c.*700T>C, XM_047428348.1:c.*700T>C, XM_047428417.1:c.*1424T>C, XM_047428433.1:c.*1424T>C, XM_047428337.1:c.*700T>C, XM_047428312.1:c.*700T>C, XM_047428368.1:c.*700T>C, XM_047428300.1:c.*700T>C, XM_047428314.1:c.*700T>C, XM_047428403.1:c.*1424T>C, XM_047428343.1:c.*700T>C, XM_047428374.1:c.*700T>C, XM_047428438.1:c.*1424T>C, XM_047428390.1:c.*700T>C, XM_047428320.1:c.*700T>C, XM_047428316.1:c.*700T>C, XM_047428317.1:c.*700T>C, XM_047428331.1:c.*700T>C, XM_047428336.1:c.*700T>C, XM_047428377.1:c.*700T>C, XM_047428388.1:c.*700T>C, XM_047428344.1:c.*700T>C, XM_047428385.1:c.*700T>C, XM_047428392.1:c.*700T>C, XM_017002123.1:c.*700T>C, XM_047428398.1:c.*1424T>C, XM_047428404.1:c.*1424T>C, XM_047428408.1:c.*1424T>C, XM_047428412.1:c.*1424T>C, XM_047428426.1:c.*1424T>C, XM_047428444.1:c.*1424T>C, XM_047428414.1:c.*1424T>C, XM_047428432.1:c.*1424T>C, XM_047428440.1:c.*1424T>C

                                16.

                                rs1481508593 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  1:47304996 (GRCh38)
                                  1:47770668 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:47304995:C:A,NC_000001.11:47304995:C:T
                                  Gene:
                                  STIL (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.47304996C>A, NC_000001.11:g.47304996C>T, NC_000001.10:g.47770668C>A, NC_000001.10:g.47770668C>T, NG_012126.1:g.14152G>T, NG_012126.1:g.14152G>A, NM_003035.2:c.45G>T, NM_003035.2:c.45G>A, NM_001377417.1:c.45G>T, NM_001377417.1:c.45G>A, NM_001282936.1:c.45G>T, NM_001282936.1:c.45G>A, NM_001282937.1:c.45G>T, NM_001282937.1:c.45G>A, NM_001282938.1:c.45G>T, NM_001282938.1:c.45G>A, NM_001048166.1:c.45G>T, NM_001048166.1:c.45G>A, NM_001282939.1:c.45G>T, NM_001282939.1:c.45G>A, XM_006710834.4:c.45G>T, XM_006710834.4:c.45G>A, XM_006710834.3:c.45G>T, XM_006710834.3:c.45G>A, XM_006710834.2:c.45G>T, XM_006710834.2:c.45G>A, XM_006710834.1:c.45G>T, XM_006710834.1:c.45G>A, XM_011541991.3:c.45G>T, XM_011541991.3:c.45G>A, XM_011541991.2:c.45G>T, XM_011541991.2:c.45G>A, XM_011541991.1:c.45G>T, XM_011541991.1:c.45G>A, XM_011541992.3:c.45G>T, XM_011541992.3:c.45G>A, XM_011541992.2:c.45G>T, XM_011541992.2:c.45G>A, XM_011541992.1:c.45G>T, XM_011541992.1:c.45G>A, XM_011541994.3:c.45G>T, XM_011541994.3:c.45G>A, XM_011541994.2:c.45G>T, XM_011541994.2:c.45G>A, XM_011541994.1:c.45G>T, XM_011541994.1:c.45G>A, XM_011541998.3:c.45G>T, XM_011541998.3:c.45G>A, XM_011541998.2:c.45G>T, XM_011541998.2:c.45G>A, XM_011541998.1:c.45G>T, XM_011541998.1:c.45G>A, XM_011542001.2:c.45G>T, XM_011542001.2:c.45G>A, XM_011542001.1:c.45G>T, XM_011542001.1:c.45G>A, XM_017002126.2:c.45G>T, XM_017002126.2:c.45G>A, XM_017002126.1:c.45G>T, XM_017002126.1:c.45G>A, XM_047428310.1:c.45G>T, XM_047428310.1:c.45G>A, XM_047428304.1:c.45G>T, XM_047428304.1:c.45G>A, XM_047428359.1:c.45G>T, XM_047428359.1:c.45G>A, XM_047428384.1:c.45G>T, XM_047428384.1:c.45G>A, XM_047428348.1:c.45G>T, XM_047428348.1:c.45G>A, XM_047428417.1:c.45G>T, XM_047428417.1:c.45G>A, XM_047428433.1:c.45G>T, XM_047428433.1:c.45G>A, XM_047428337.1:c.45G>T, XM_047428337.1:c.45G>A, XM_047428312.1:c.45G>T, XM_047428312.1:c.45G>A, XM_047428368.1:c.45G>T, XM_047428368.1:c.45G>A, XM_047428300.1:c.45G>T, XM_047428300.1:c.45G>A, XM_047428314.1:c.45G>T, XM_047428314.1:c.45G>A, XM_047428403.1:c.45G>T, XM_047428403.1:c.45G>A, XM_047428343.1:c.45G>T, XM_047428343.1:c.45G>A, XM_047428374.1:c.45G>T, XM_047428374.1:c.45G>A, XM_047428438.1:c.45G>T, XM_047428438.1:c.45G>A, XM_047428390.1:c.45G>T, XM_047428390.1:c.45G>A, XM_047428320.1:c.45G>T, XM_047428320.1:c.45G>A, XM_047428316.1:c.45G>T, XM_047428316.1:c.45G>A, XM_047428317.1:c.45G>T, XM_047428317.1:c.45G>A, XM_047428331.1:c.45G>T, XM_047428331.1:c.45G>A, XM_047428336.1:c.45G>T, XM_047428336.1:c.45G>A, XM_047428377.1:c.45G>T, XM_047428377.1:c.45G>A, XM_047428388.1:c.45G>T, XM_047428388.1:c.45G>A, XM_047428344.1:c.45G>T, XM_047428344.1:c.45G>A, XM_047428385.1:c.45G>T, XM_047428385.1:c.45G>A, XM_047428392.1:c.45G>T, XM_047428392.1:c.45G>A, XM_017002123.1:c.45G>T, XM_017002123.1:c.45G>A, XM_047428398.1:c.45G>T, XM_047428398.1:c.45G>A, XM_047428404.1:c.45G>T, XM_047428404.1:c.45G>A, XM_047428408.1:c.45G>T, XM_047428408.1:c.45G>A, XM_047428412.1:c.45G>T, XM_047428412.1:c.45G>A, XM_047428426.1:c.45G>T, XM_047428426.1:c.45G>A, XM_047428444.1:c.45G>T, XM_047428444.1:c.45G>A, XM_047428414.1:c.45G>T, XM_047428414.1:c.45G>A, XM_047428432.1:c.45G>T, XM_047428432.1:c.45G>A, XM_047428440.1:c.45G>T, XM_047428440.1:c.45G>A, XM_047428394.1:c.45G>T, XM_047428394.1:c.45G>A, XM_017002127.1:c.45G>T, XM_017002127.1:c.45G>A, NP_003026.2:p.Arg15Ser, NP_001364346.1:p.Arg15Ser, NP_001269865.1:p.Arg15Ser, NP_001269866.1:p.Arg15Ser, NP_001269867.1:p.Arg15Ser, NP_001041631.1:p.Arg15Ser, NP_001269868.1:p.Arg15Ser, XP_006710897.1:p.Arg15Ser, XP_011540293.1:p.Arg15Ser, XP_011540294.1:p.Arg15Ser, XP_011540296.1:p.Arg15Ser, XP_011540300.1:p.Arg15Ser, XP_011540303.1:p.Arg15Ser, XP_016857615.1:p.Arg15Ser, XP_047284266.1:p.Arg15Ser, XP_047284260.1:p.Arg15Ser, XP_047284315.1:p.Arg15Ser, XP_047284340.1:p.Arg15Ser, XP_047284304.1:p.Arg15Ser, XP_047284373.1:p.Arg15Ser, XP_047284389.1:p.Arg15Ser, XP_047284293.1:p.Arg15Ser, XP_047284268.1:p.Arg15Ser, XP_047284324.1:p.Arg15Ser, XP_047284256.1:p.Arg15Ser, XP_047284270.1:p.Arg15Ser, XP_047284359.1:p.Arg15Ser, XP_047284299.1:p.Arg15Ser, XP_047284330.1:p.Arg15Ser, XP_047284394.1:p.Arg15Ser, XP_047284346.1:p.Arg15Ser, XP_047284276.1:p.Arg15Ser, XP_047284272.1:p.Arg15Ser, XP_047284273.1:p.Arg15Ser, XP_047284287.1:p.Arg15Ser, XP_047284292.1:p.Arg15Ser, XP_047284333.1:p.Arg15Ser, XP_047284344.1:p.Arg15Ser, XP_047284300.1:p.Arg15Ser, XP_047284341.1:p.Arg15Ser, XP_047284348.1:p.Arg15Ser, XP_016857612.1:p.Arg15Ser, XP_047284354.1:p.Arg15Ser, XP_047284360.1:p.Arg15Ser, XP_047284364.1:p.Arg15Ser, XP_047284368.1:p.Arg15Ser, XP_047284382.1:p.Arg15Ser, XP_047284400.1:p.Arg15Ser, XP_047284370.1:p.Arg15Ser, XP_047284388.1:p.Arg15Ser, XP_047284396.1:p.Arg15Ser, XP_047284350.1:p.Arg15Ser, XP_016857616.1:p.Arg15Ser

                                  17.

                                  rs1480957886 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:47280254 (GRCh38)
                                    1:47745926 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:47280253:A:G
                                    Gene:
                                    STIL (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.47280254A>G, NC_000001.10:g.47745926A>G, NG_012126.1:g.38894T>C, NM_003035.2:c.2204T>C, NM_001377417.1:c.2063T>C, NM_001282936.1:c.2204T>C, NM_001282937.1:c.2204T>C, NM_001282938.1:c.2063T>C, NM_001048166.1:c.2204T>C, NM_001282939.1:c.2063T>C, XM_006710834.4:c.2204T>C, XM_006710834.3:c.2204T>C, XM_006710834.2:c.2204T>C, XM_006710834.1:c.2204T>C, XM_011541991.3:c.2204T>C, XM_011541991.2:c.2204T>C, XM_011541991.1:c.2204T>C, XM_011541992.3:c.2204T>C, XM_011541992.2:c.2204T>C, XM_011541992.1:c.2204T>C, XM_011541994.3:c.2204T>C, XM_011541994.2:c.2204T>C, XM_011541994.1:c.2204T>C, XM_011541998.3:c.2063T>C, XM_011541998.2:c.2063T>C, XM_011541998.1:c.2063T>C, XM_011542001.2:c.2204T>C, XM_011542001.1:c.2204T>C, XM_017002126.2:c.2204T>C, XM_017002126.1:c.2204T>C, XM_017002124.2:c.1493T>C, XM_017002124.1:c.1493T>C, XM_047428310.1:c.2204T>C, XM_047428304.1:c.2204T>C, XM_047428359.1:c.2063T>C, XM_047428384.1:c.2063T>C, XM_047428348.1:c.2063T>C, XM_047428417.1:c.2063T>C, XM_047428433.1:c.2063T>C, XM_047428337.1:c.2204T>C, XM_047428312.1:c.2204T>C, XM_047428368.1:c.2063T>C, XM_047428300.1:c.2204T>C, XM_047428314.1:c.2204T>C, XM_047428403.1:c.2204T>C, XM_047428343.1:c.2063T>C, XM_047428374.1:c.2063T>C, XM_047428438.1:c.2063T>C, XM_047428390.1:c.2063T>C, XM_047428320.1:c.2204T>C, XM_047428316.1:c.2204T>C, XM_047428317.1:c.2204T>C, XM_047428331.1:c.2204T>C, XM_047428336.1:c.2204T>C, XM_047428377.1:c.2063T>C, XM_047428388.1:c.2063T>C, XM_047428344.1:c.2063T>C, XM_047428385.1:c.2063T>C, XM_047428392.1:c.2063T>C, XM_017002123.1:c.2063T>C, XM_047428398.1:c.2204T>C, XM_047428404.1:c.2204T>C, XM_047428408.1:c.2204T>C, XM_047428412.1:c.2204T>C, XM_047428426.1:c.2063T>C, XM_047428444.1:c.2063T>C, XM_047428414.1:c.2063T>C, XM_047428432.1:c.2063T>C, XM_047428440.1:c.2063T>C, XM_047428394.1:c.2204T>C, XM_017002127.1:c.2204T>C, NP_003026.2:p.Leu735Pro, NP_001364346.1:p.Leu688Pro, NP_001269865.1:p.Leu735Pro, NP_001269866.1:p.Leu735Pro, NP_001269867.1:p.Leu688Pro, NP_001041631.1:p.Leu735Pro, NP_001269868.1:p.Leu688Pro, XP_006710897.1:p.Leu735Pro, XP_011540293.1:p.Leu735Pro, XP_011540294.1:p.Leu735Pro, XP_011540296.1:p.Leu735Pro, XP_011540300.1:p.Leu688Pro, XP_011540303.1:p.Leu735Pro, XP_016857615.1:p.Leu735Pro, XP_016857613.1:p.Leu498Pro, XP_047284266.1:p.Leu735Pro, XP_047284260.1:p.Leu735Pro, XP_047284315.1:p.Leu688Pro, XP_047284340.1:p.Leu688Pro, XP_047284304.1:p.Leu688Pro, XP_047284373.1:p.Leu688Pro, XP_047284389.1:p.Leu688Pro, XP_047284293.1:p.Leu735Pro, XP_047284268.1:p.Leu735Pro, XP_047284324.1:p.Leu688Pro, XP_047284256.1:p.Leu735Pro, XP_047284270.1:p.Leu735Pro, XP_047284359.1:p.Leu735Pro, XP_047284299.1:p.Leu688Pro, XP_047284330.1:p.Leu688Pro, XP_047284394.1:p.Leu688Pro, XP_047284346.1:p.Leu688Pro, XP_047284276.1:p.Leu735Pro, XP_047284272.1:p.Leu735Pro, XP_047284273.1:p.Leu735Pro, XP_047284287.1:p.Leu735Pro, XP_047284292.1:p.Leu735Pro, XP_047284333.1:p.Leu688Pro, XP_047284344.1:p.Leu688Pro, XP_047284300.1:p.Leu688Pro, XP_047284341.1:p.Leu688Pro, XP_047284348.1:p.Leu688Pro, XP_016857612.1:p.Leu688Pro, XP_047284354.1:p.Leu735Pro, XP_047284360.1:p.Leu735Pro, XP_047284364.1:p.Leu735Pro, XP_047284368.1:p.Leu735Pro, XP_047284382.1:p.Leu688Pro, XP_047284400.1:p.Leu688Pro, XP_047284370.1:p.Leu688Pro, XP_047284388.1:p.Leu688Pro, XP_047284396.1:p.Leu688Pro, XP_047284350.1:p.Leu735Pro, XP_016857616.1:p.Leu735Pro

                                    18.

                                    rs1480863702 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      1:47313122 (GRCh38)
                                      1:47778794 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:47313121:C:A
                                      Gene:
                                      STIL (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1480155109 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        1:47313128 (GRCh38)
                                        1:47778800 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:47313127:A:G
                                        Gene:
                                        STIL (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1480104289 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:47250431 (GRCh38)
                                          1:47716103 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:47250430:G:A
                                          Gene:
                                          STIL (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.47250431G>A, NC_000001.10:g.47716103G>A, NG_012126.1:g.68717C>T, NM_003035.2:c.*705C>T, NM_001377417.1:c.*705C>T, NM_001282936.1:c.*705C>T, NM_001282937.1:c.*705C>T, NM_001282938.1:c.*705C>T, NM_001048166.1:c.*705C>T, NM_001282939.1:c.*705C>T, XM_006710834.4:c.*705C>T, XM_006710834.2:c.*705C>T, XM_006710834.1:c.*705C>T, XM_011541991.3:c.*705C>T, XM_011541991.1:c.*705C>T, XM_011541992.3:c.*705C>T, XM_011541992.1:c.*705C>T, XM_011541994.3:c.*705C>T, XM_011541994.1:c.*705C>T, XM_011541998.3:c.*705C>T, XM_011541998.1:c.*705C>T, XM_011542001.2:c.*1429C>T, XM_017002126.2:c.*1429C>T, XM_017002124.2:c.*705C>T, XM_017002124.1:c.*705C>T, XM_047428310.1:c.*705C>T, XM_047428304.1:c.*705C>T, XM_047428359.1:c.*705C>T, XM_047428384.1:c.*705C>T, XM_047428348.1:c.*705C>T, XM_047428417.1:c.*1429C>T, XM_047428433.1:c.*1429C>T, XM_047428337.1:c.*705C>T, XM_047428312.1:c.*705C>T, XM_047428368.1:c.*705C>T, XM_047428300.1:c.*705C>T, XM_047428314.1:c.*705C>T, XM_047428403.1:c.*1429C>T, XM_047428343.1:c.*705C>T, XM_047428374.1:c.*705C>T, XM_047428438.1:c.*1429C>T, XM_047428390.1:c.*705C>T, XM_047428320.1:c.*705C>T, XM_047428316.1:c.*705C>T, XM_047428317.1:c.*705C>T, XM_047428331.1:c.*705C>T, XM_047428336.1:c.*705C>T, XM_047428377.1:c.*705C>T, XM_047428388.1:c.*705C>T, XM_047428344.1:c.*705C>T, XM_047428385.1:c.*705C>T, XM_047428392.1:c.*705C>T, XM_017002123.1:c.*705C>T, XM_047428398.1:c.*1429C>T, XM_047428404.1:c.*1429C>T, XM_047428408.1:c.*1429C>T, XM_047428412.1:c.*1429C>T, XM_047428426.1:c.*1429C>T, XM_047428444.1:c.*1429C>T, XM_047428414.1:c.*1429C>T, XM_047428432.1:c.*1429C>T, XM_047428440.1:c.*1429C>T

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