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Items: 1 to 20 of 837

1.

rs1490641229 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:15724406 (GRCh38)
    3:15765913 (GRCh37)
    Canonical SPDI:
    NC_000003.12:15724405:C:T
    Gene:
    ANKRD28 (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (TOPMED)
    HGVS:
    NC_000003.12:g.15724406C>T, NC_000003.11:g.15765913C>T, XM_011533547.4:c.501G>A, XM_011533547.3:c.501G>A, XM_011533547.2:c.501G>A, XM_011533547.1:c.501G>A, NM_015199.4:c.669G>A, NM_015199.3:c.669G>A, XM_011533542.4:c.585G>A, XM_011533542.3:c.585G>A, XM_011533542.2:c.585G>A, XM_011533542.1:c.585G>A, NM_001349277.2:c.768G>A, NM_001349277.1:c.768G>A, NM_001349278.2:c.759G>A, NM_001349278.1:c.759G>A, NM_001349283.2:c.207G>A, NM_001349283.1:c.207G>A, NM_001349282.2:c.501G>A, NM_001349282.1:c.501G>A, NM_001349281.2:c.501G>A, NM_001349281.1:c.501G>A, XM_024453418.2:c.711G>A, XM_024453418.1:c.711G>A, XM_024453419.2:c.702G>A, XM_024453419.1:c.702G>A, NM_001349279.2:c.660G>A, NM_001349279.1:c.660G>A, XM_024453422.2:c.501G>A, XM_024453422.1:c.501G>A, XM_024453424.2:c.501G>A, XM_024453424.1:c.501G>A, NM_001195099.2:c.207G>A, NM_001195099.1:c.207G>A, NR_146112.2:n.2217G>A, NR_146112.1:n.2422G>A, XM_047447802.1:c.567G>A, XM_047447803.1:c.558G>A, XM_047447810.1:c.459G>A, XM_047447807.1:c.483G>A, XM_047447809.1:c.468G>A, NM_001195098.1:c.207G>A, XM_047447804.1:c.501G>A, XM_047447805.1:c.501G>A, NM_001349280.1:c.501G>A, XM_047447800.1:c.768G>A, XM_047447801.1:c.759G>A, XM_047447813.1:c.207G>A, XR_007095652.1:n.2226G>A, XM_047447808.1:c.660G>A, XM_047447806.1:c.669G>A, XR_007095653.1:n.1080G>A, NR_146111.1:n.785G>A, XM_047447811.1:c.768G>A, XM_047447812.1:c.768G>A

    2.

    rs1490626450 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      3:15712217 (GRCh38)
      3:15753724 (GRCh37)
      Canonical SPDI:
      NC_000003.12:15712216:C:T
      Gene:
      BTD (Varview), ANKRD28 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
      HGVS:
      NC_000003.12:g.15712217C>T, NC_000003.11:g.15753724C>T, XM_011533547.4:c.938G>A, XM_011533547.3:c.938G>A, XM_011533547.2:c.938G>A, XM_011533547.1:c.938G>A, NM_015199.4:c.1106G>A, NM_015199.3:c.1106G>A, XM_011533542.4:c.1022G>A, XM_011533542.3:c.1022G>A, XM_011533542.2:c.1022G>A, XM_011533542.1:c.1022G>A, NM_001349277.2:c.1205G>A, NM_001349277.1:c.1205G>A, NM_001349278.2:c.1196G>A, NM_001349278.1:c.1196G>A, NM_001349283.2:c.644G>A, NM_001349283.1:c.644G>A, NM_001349282.2:c.938G>A, NM_001349282.1:c.938G>A, NM_001349281.2:c.938G>A, NM_001349281.1:c.938G>A, XM_024453418.2:c.1148G>A, XM_024453418.1:c.1148G>A, XM_024453419.2:c.1139G>A, XM_024453419.1:c.1139G>A, NM_001349279.2:c.1097G>A, NM_001349279.1:c.1097G>A, XM_024453422.2:c.938G>A, XM_024453422.1:c.938G>A, XM_024453424.2:c.938G>A, XM_024453424.1:c.938G>A, NM_001195099.2:c.644G>A, NM_001195099.1:c.644G>A, NR_146112.2:n.2654G>A, NR_146112.1:n.2859G>A, XM_047447802.1:c.1004G>A, XM_047447803.1:c.995G>A, XM_047447810.1:c.896G>A, XM_047447807.1:c.920G>A, XM_047447809.1:c.905G>A, NM_001195098.1:c.644G>A, XM_047447804.1:c.938G>A, XM_047447805.1:c.938G>A, NM_001349280.1:c.938G>A, XM_047447800.1:c.1205G>A, XM_047447801.1:c.1196G>A, XM_047447813.1:c.644G>A, XR_007095652.1:n.2663G>A, XM_047447808.1:c.1097G>A, XM_047447806.1:c.1106G>A, XR_007095653.1:n.1517G>A, NR_146111.1:n.1248G>A, XM_047447811.1:c.1205G>A, XM_047447812.1:c.1205G>A, NM_001370753.1:c.*1792C>T, XP_011531849.1:p.Gly313Asp, NP_056014.2:p.Gly369Asp, XP_011531844.1:p.Gly341Asp, NP_001336206.1:p.Gly402Asp, NP_001336207.1:p.Gly399Asp, NP_001336212.1:p.Gly215Asp, NP_001336211.1:p.Gly313Asp, NP_001336210.1:p.Gly313Asp, XP_024309186.1:p.Gly383Asp, XP_024309187.1:p.Gly380Asp, NP_001336208.1:p.Gly366Asp, XP_024309190.1:p.Gly313Asp, XP_024309192.1:p.Gly313Asp, NP_001182028.1:p.Gly215Asp, XP_047303758.1:p.Gly335Asp, XP_047303759.1:p.Gly332Asp, XP_047303766.1:p.Gly299Asp, XP_047303763.1:p.Gly307Asp, XP_047303765.1:p.Gly302Asp, NP_001182027.1:p.Gly215Asp, XP_047303760.1:p.Gly313Asp, XP_047303761.1:p.Gly313Asp, NP_001336209.1:p.Gly313Asp, XP_047303756.1:p.Gly402Asp, XP_047303757.1:p.Gly399Asp, XP_047303769.1:p.Gly215Asp, XP_047303764.1:p.Gly366Asp, XP_047303762.1:p.Gly369Asp, XP_047303767.1:p.Gly402Asp, XP_047303768.1:p.Gly402Asp

      3.

      rs1488817580 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        3:15694780 (GRCh38)
        3:15736287 (GRCh37)
        Canonical SPDI:
        NC_000003.12:15694779:C:G
        Gene:
        BTD (Varview), ANKRD28 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0.000084/1 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.15694780C>G, NC_000003.11:g.15736287C>G, XM_011533547.4:c.1462G>C, XM_011533547.3:c.1462G>C, XM_011533547.2:c.1462G>C, XM_011533547.1:c.1462G>C, NM_015199.4:c.1630G>C, NM_015199.3:c.1630G>C, XM_011533542.4:c.1546G>C, XM_011533542.3:c.1546G>C, XM_011533542.2:c.1546G>C, XM_011533542.1:c.1546G>C, NM_001349277.2:c.1729G>C, NM_001349277.1:c.1729G>C, NM_001349278.2:c.1720G>C, NM_001349278.1:c.1720G>C, NM_001349283.2:c.1168G>C, NM_001349283.1:c.1168G>C, NM_001349282.2:c.1462G>C, NM_001349282.1:c.1462G>C, NM_001349281.2:c.1462G>C, NM_001349281.1:c.1462G>C, XM_024453418.2:c.1672G>C, XM_024453418.1:c.1672G>C, XM_024453419.2:c.1663G>C, XM_024453419.1:c.1663G>C, NM_001349279.2:c.1621G>C, NM_001349279.1:c.1621G>C, XM_024453422.2:c.1462G>C, XM_024453422.1:c.1462G>C, XM_024453424.2:c.1462G>C, XM_024453424.1:c.1462G>C, NM_001195099.2:c.1168G>C, NM_001195099.1:c.1168G>C, NR_146112.2:n.3178G>C, NR_146112.1:n.3383G>C, XM_047447802.1:c.1528G>C, XM_047447803.1:c.1519G>C, XM_047447810.1:c.1420G>C, XM_047447807.1:c.1444G>C, XM_047447809.1:c.1429G>C, NM_001195098.1:c.1168G>C, XM_047447804.1:c.1462G>C, XM_047447805.1:c.1462G>C, NM_001349280.1:c.1462G>C, XM_047447800.1:c.1729G>C, XM_047447801.1:c.1720G>C, XM_047447813.1:c.1168G>C, XR_007095652.1:n.3187G>C, XM_047447808.1:c.1621G>C, XM_047447806.1:c.1630G>C, XR_007095653.1:n.2041G>C, NR_146111.1:n.1772G>C, XM_047447811.1:c.1729G>C, XM_047447812.1:c.1729G>C, XP_011531849.1:p.Asp488His, NP_056014.2:p.Asp544His, XP_011531844.1:p.Asp516His, NP_001336206.1:p.Asp577His, NP_001336207.1:p.Asp574His, NP_001336212.1:p.Asp390His, NP_001336211.1:p.Asp488His, NP_001336210.1:p.Asp488His, XP_024309186.1:p.Asp558His, XP_024309187.1:p.Asp555His, NP_001336208.1:p.Asp541His, XP_024309190.1:p.Asp488His, XP_024309192.1:p.Asp488His, NP_001182028.1:p.Asp390His, XP_047303758.1:p.Asp510His, XP_047303759.1:p.Asp507His, XP_047303766.1:p.Asp474His, XP_047303763.1:p.Asp482His, XP_047303765.1:p.Asp477His, NP_001182027.1:p.Asp390His, XP_047303760.1:p.Asp488His, XP_047303761.1:p.Asp488His, NP_001336209.1:p.Asp488His, XP_047303756.1:p.Asp577His, XP_047303757.1:p.Asp574His, XP_047303769.1:p.Asp390His, XP_047303764.1:p.Asp541His, XP_047303762.1:p.Asp544His, XP_047303767.1:p.Asp577His, XP_047303768.1:p.Asp577His

        4.

        rs1486893830 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          3:15678292 (GRCh38)
          3:15719799 (GRCh37)
          Canonical SPDI:
          NC_000003.12:15678291:T:G
          Gene:
          BTD (Varview), ANKRD28 (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.15678292T>G, NC_000003.11:g.15719799T>G, XM_011533547.4:c.2366A>C, XM_011533547.3:c.2366A>C, XM_011533547.2:c.2366A>C, XM_011533547.1:c.2366A>C, NM_015199.4:c.2534A>C, NM_015199.3:c.2534A>C, XM_011533542.4:c.2450A>C, XM_011533542.3:c.2450A>C, XM_011533542.2:c.2450A>C, XM_011533542.1:c.2450A>C, NM_001349277.2:c.2633A>C, NM_001349277.1:c.2633A>C, NM_001349278.2:c.2624A>C, NM_001349278.1:c.2624A>C, NM_001349283.2:c.2072A>C, NM_001349283.1:c.2072A>C, NM_001349282.2:c.2366A>C, NM_001349282.1:c.2366A>C, NM_001349281.2:c.2366A>C, NM_001349281.1:c.2366A>C, XM_024453418.2:c.2576A>C, XM_024453418.1:c.2576A>C, XM_024453419.2:c.2567A>C, XM_024453419.1:c.2567A>C, NM_001349279.2:c.2525A>C, NM_001349279.1:c.2525A>C, XM_024453422.2:c.2366A>C, XM_024453422.1:c.2366A>C, XM_024453424.2:c.2366A>C, XM_024453424.1:c.2366A>C, NM_001195099.2:c.2072A>C, NM_001195099.1:c.2072A>C, NR_146112.2:n.4082A>C, NR_146112.1:n.4287A>C, XM_047447802.1:c.2432A>C, XM_047447803.1:c.2423A>C, XM_047447810.1:c.2324A>C, XM_047447807.1:c.2348A>C, XM_047447809.1:c.2333A>C, NM_001195098.1:c.2072A>C, XM_047447804.1:c.2366A>C, XM_047447805.1:c.2366A>C, NM_001349280.1:c.2366A>C, XM_047447800.1:c.2633A>C, XM_047447801.1:c.2624A>C, XM_047447813.1:c.2072A>C, XR_007095652.1:n.4091A>C, XM_047447808.1:c.2525A>C, XM_047447806.1:c.2534A>C, XR_007095653.1:n.2945A>C, NR_146111.1:n.2676A>C, XM_047447811.1:c.2633A>C, XM_047447812.1:c.2633A>C, XP_011531849.1:p.His789Pro, NP_056014.2:p.His845Pro, XP_011531844.1:p.His817Pro, NP_001336206.1:p.His878Pro, NP_001336207.1:p.His875Pro, NP_001336212.1:p.His691Pro, NP_001336211.1:p.His789Pro, NP_001336210.1:p.His789Pro, XP_024309186.1:p.His859Pro, XP_024309187.1:p.His856Pro, NP_001336208.1:p.His842Pro, XP_024309190.1:p.His789Pro, XP_024309192.1:p.His789Pro, NP_001182028.1:p.His691Pro, XP_047303758.1:p.His811Pro, XP_047303759.1:p.His808Pro, XP_047303766.1:p.His775Pro, XP_047303763.1:p.His783Pro, XP_047303765.1:p.His778Pro, NP_001182027.1:p.His691Pro, XP_047303760.1:p.His789Pro, XP_047303761.1:p.His789Pro, NP_001336209.1:p.His789Pro, XP_047303756.1:p.His878Pro, XP_047303757.1:p.His875Pro, XP_047303769.1:p.His691Pro, XP_047303764.1:p.His842Pro, XP_047303762.1:p.His845Pro, XP_047303767.1:p.His878Pro, XP_047303768.1:p.His878Pro

          5.

          rs1486785251 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            3:15711236 (GRCh38)
            3:15752743 (GRCh37)
            Canonical SPDI:
            NC_000003.12:15711235:A:G
            Gene:
            BTD (Varview), ANKRD28 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.15711236A>G, NC_000003.11:g.15752743A>G, XM_011533547.4:c.1054T>C, XM_011533547.3:c.1054T>C, XM_011533547.2:c.1054T>C, XM_011533547.1:c.1054T>C, NM_015199.4:c.1222T>C, NM_015199.3:c.1222T>C, XM_011533542.4:c.1138T>C, XM_011533542.3:c.1138T>C, XM_011533542.2:c.1138T>C, XM_011533542.1:c.1138T>C, NM_001349277.2:c.1321T>C, NM_001349277.1:c.1321T>C, NM_001349278.2:c.1312T>C, NM_001349278.1:c.1312T>C, NM_001349283.2:c.760T>C, NM_001349283.1:c.760T>C, NM_001349282.2:c.1054T>C, NM_001349282.1:c.1054T>C, NM_001349281.2:c.1054T>C, NM_001349281.1:c.1054T>C, XM_024453418.2:c.1264T>C, XM_024453418.1:c.1264T>C, XM_024453419.2:c.1255T>C, XM_024453419.1:c.1255T>C, NM_001349279.2:c.1213T>C, NM_001349279.1:c.1213T>C, XM_024453422.2:c.1054T>C, XM_024453422.1:c.1054T>C, XM_024453424.2:c.1054T>C, XM_024453424.1:c.1054T>C, NM_001195099.2:c.760T>C, NM_001195099.1:c.760T>C, NR_146112.2:n.2770T>C, NR_146112.1:n.2975T>C, XM_047447802.1:c.1120T>C, XM_047447803.1:c.1111T>C, XM_047447810.1:c.1012T>C, XM_047447807.1:c.1036T>C, XM_047447809.1:c.1021T>C, NM_001195098.1:c.760T>C, XM_047447804.1:c.1054T>C, XM_047447805.1:c.1054T>C, NM_001349280.1:c.1054T>C, XM_047447800.1:c.1321T>C, XM_047447801.1:c.1312T>C, XM_047447813.1:c.760T>C, XR_007095652.1:n.2779T>C, XM_047447808.1:c.1213T>C, XM_047447806.1:c.1222T>C, XR_007095653.1:n.1633T>C, NR_146111.1:n.1364T>C, XM_047447811.1:c.1321T>C, XM_047447812.1:c.1321T>C, NM_001370753.1:c.*811A>G, XP_011531849.1:p.Cys352Arg, NP_056014.2:p.Cys408Arg, XP_011531844.1:p.Cys380Arg, NP_001336206.1:p.Cys441Arg, NP_001336207.1:p.Cys438Arg, NP_001336212.1:p.Cys254Arg, NP_001336211.1:p.Cys352Arg, NP_001336210.1:p.Cys352Arg, XP_024309186.1:p.Cys422Arg, XP_024309187.1:p.Cys419Arg, NP_001336208.1:p.Cys405Arg, XP_024309190.1:p.Cys352Arg, XP_024309192.1:p.Cys352Arg, NP_001182028.1:p.Cys254Arg, XP_047303758.1:p.Cys374Arg, XP_047303759.1:p.Cys371Arg, XP_047303766.1:p.Cys338Arg, XP_047303763.1:p.Cys346Arg, XP_047303765.1:p.Cys341Arg, NP_001182027.1:p.Cys254Arg, XP_047303760.1:p.Cys352Arg, XP_047303761.1:p.Cys352Arg, NP_001336209.1:p.Cys352Arg, XP_047303756.1:p.Cys441Arg, XP_047303757.1:p.Cys438Arg, XP_047303769.1:p.Cys254Arg, XP_047303764.1:p.Cys405Arg, XP_047303762.1:p.Cys408Arg, XP_047303767.1:p.Cys441Arg, XP_047303768.1:p.Cys441Arg

            6.

            rs1485915115 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              3:15712221 (GRCh38)
              3:15753728 (GRCh37)
              Canonical SPDI:
              NC_000003.12:15712220:G:A,NC_000003.12:15712220:G:T
              Gene:
              BTD (Varview), ANKRD28 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000014/2 (GnomAD)
              T=0.000342/1 (KOREAN)
              HGVS:
              NC_000003.12:g.15712221G>A, NC_000003.12:g.15712221G>T, NC_000003.11:g.15753728G>A, NC_000003.11:g.15753728G>T, XM_011533547.4:c.934C>T, XM_011533547.4:c.934C>A, XM_011533547.3:c.934C>T, XM_011533547.3:c.934C>A, XM_011533547.2:c.934C>T, XM_011533547.2:c.934C>A, XM_011533547.1:c.934C>T, XM_011533547.1:c.934C>A, NM_015199.4:c.1102C>T, NM_015199.4:c.1102C>A, NM_015199.3:c.1102C>T, NM_015199.3:c.1102C>A, XM_011533542.4:c.1018C>T, XM_011533542.4:c.1018C>A, XM_011533542.3:c.1018C>T, XM_011533542.3:c.1018C>A, XM_011533542.2:c.1018C>T, XM_011533542.2:c.1018C>A, XM_011533542.1:c.1018C>T, XM_011533542.1:c.1018C>A, NM_001349277.2:c.1201C>T, NM_001349277.2:c.1201C>A, NM_001349277.1:c.1201C>T, NM_001349277.1:c.1201C>A, NM_001349278.2:c.1192C>T, NM_001349278.2:c.1192C>A, NM_001349278.1:c.1192C>T, NM_001349278.1:c.1192C>A, NM_001349283.2:c.640C>T, NM_001349283.2:c.640C>A, NM_001349283.1:c.640C>T, NM_001349283.1:c.640C>A, NM_001349282.2:c.934C>T, NM_001349282.2:c.934C>A, NM_001349282.1:c.934C>T, NM_001349282.1:c.934C>A, NM_001349281.2:c.934C>T, NM_001349281.2:c.934C>A, NM_001349281.1:c.934C>T, NM_001349281.1:c.934C>A, XM_024453418.2:c.1144C>T, XM_024453418.2:c.1144C>A, XM_024453418.1:c.1144C>T, XM_024453418.1:c.1144C>A, XM_024453419.2:c.1135C>T, XM_024453419.2:c.1135C>A, XM_024453419.1:c.1135C>T, XM_024453419.1:c.1135C>A, NM_001349279.2:c.1093C>T, NM_001349279.2:c.1093C>A, NM_001349279.1:c.1093C>T, NM_001349279.1:c.1093C>A, XM_024453422.2:c.934C>T, XM_024453422.2:c.934C>A, XM_024453422.1:c.934C>T, XM_024453422.1:c.934C>A, XM_024453424.2:c.934C>T, XM_024453424.2:c.934C>A, XM_024453424.1:c.934C>T, XM_024453424.1:c.934C>A, NM_001195099.2:c.640C>T, NM_001195099.2:c.640C>A, NM_001195099.1:c.640C>T, NM_001195099.1:c.640C>A, NR_146112.2:n.2650C>T, NR_146112.2:n.2650C>A, NR_146112.1:n.2855C>T, NR_146112.1:n.2855C>A, XM_047447802.1:c.1000C>T, XM_047447802.1:c.1000C>A, XM_047447803.1:c.991C>T, XM_047447803.1:c.991C>A, XM_047447810.1:c.892C>T, XM_047447810.1:c.892C>A, XM_047447807.1:c.916C>T, XM_047447807.1:c.916C>A, XM_047447809.1:c.901C>T, XM_047447809.1:c.901C>A, NM_001195098.1:c.640C>T, NM_001195098.1:c.640C>A, XM_047447804.1:c.934C>T, XM_047447804.1:c.934C>A, XM_047447805.1:c.934C>T, XM_047447805.1:c.934C>A, NM_001349280.1:c.934C>T, NM_001349280.1:c.934C>A, XM_047447800.1:c.1201C>T, XM_047447800.1:c.1201C>A, XM_047447801.1:c.1192C>T, XM_047447801.1:c.1192C>A, XM_047447813.1:c.640C>T, XM_047447813.1:c.640C>A, XR_007095652.1:n.2659C>T, XR_007095652.1:n.2659C>A, XM_047447808.1:c.1093C>T, XM_047447808.1:c.1093C>A, XM_047447806.1:c.1102C>T, XM_047447806.1:c.1102C>A, XR_007095653.1:n.1513C>T, XR_007095653.1:n.1513C>A, NR_146111.1:n.1244C>T, NR_146111.1:n.1244C>A, XM_047447811.1:c.1201C>T, XM_047447811.1:c.1201C>A, XM_047447812.1:c.1201C>T, XM_047447812.1:c.1201C>A, NM_001370753.1:c.*1796G>A, NM_001370753.1:c.*1796G>T, XP_011531849.1:p.Arg312Cys, XP_011531849.1:p.Arg312Ser, NP_056014.2:p.Arg368Cys, NP_056014.2:p.Arg368Ser, XP_011531844.1:p.Arg340Cys, XP_011531844.1:p.Arg340Ser, NP_001336206.1:p.Arg401Cys, NP_001336206.1:p.Arg401Ser, NP_001336207.1:p.Arg398Cys, NP_001336207.1:p.Arg398Ser, NP_001336212.1:p.Arg214Cys, NP_001336212.1:p.Arg214Ser, NP_001336211.1:p.Arg312Cys, NP_001336211.1:p.Arg312Ser, NP_001336210.1:p.Arg312Cys, NP_001336210.1:p.Arg312Ser, XP_024309186.1:p.Arg382Cys, XP_024309186.1:p.Arg382Ser, XP_024309187.1:p.Arg379Cys, XP_024309187.1:p.Arg379Ser, NP_001336208.1:p.Arg365Cys, NP_001336208.1:p.Arg365Ser, XP_024309190.1:p.Arg312Cys, XP_024309190.1:p.Arg312Ser, XP_024309192.1:p.Arg312Cys, XP_024309192.1:p.Arg312Ser, NP_001182028.1:p.Arg214Cys, NP_001182028.1:p.Arg214Ser, XP_047303758.1:p.Arg334Cys, XP_047303758.1:p.Arg334Ser, XP_047303759.1:p.Arg331Cys, XP_047303759.1:p.Arg331Ser, XP_047303766.1:p.Arg298Cys, XP_047303766.1:p.Arg298Ser, XP_047303763.1:p.Arg306Cys, XP_047303763.1:p.Arg306Ser, XP_047303765.1:p.Arg301Cys, XP_047303765.1:p.Arg301Ser, NP_001182027.1:p.Arg214Cys, NP_001182027.1:p.Arg214Ser, XP_047303760.1:p.Arg312Cys, XP_047303760.1:p.Arg312Ser, XP_047303761.1:p.Arg312Cys, XP_047303761.1:p.Arg312Ser, NP_001336209.1:p.Arg312Cys, NP_001336209.1:p.Arg312Ser, XP_047303756.1:p.Arg401Cys, XP_047303756.1:p.Arg401Ser, XP_047303757.1:p.Arg398Cys, XP_047303757.1:p.Arg398Ser, XP_047303769.1:p.Arg214Cys, XP_047303769.1:p.Arg214Ser, XP_047303764.1:p.Arg365Cys, XP_047303764.1:p.Arg365Ser, XP_047303762.1:p.Arg368Cys, XP_047303762.1:p.Arg368Ser, XP_047303767.1:p.Arg401Cys, XP_047303767.1:p.Arg401Ser, XP_047303768.1:p.Arg401Cys, XP_047303768.1:p.Arg401Ser

              7.

              rs1485850660 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:15685237 (GRCh38)
                3:15726744 (GRCh37)
                Canonical SPDI:
                NC_000003.12:15685236:G:A
                Gene:
                BTD (Varview), ANKRD28 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000003.12:g.15685237G>A, NC_000003.11:g.15726744G>A, XM_011533547.4:c.2120C>T, XM_011533547.3:c.2120C>T, XM_011533547.2:c.2120C>T, XM_011533547.1:c.2120C>T, NM_015199.4:c.2288C>T, NM_015199.3:c.2288C>T, XM_011533542.4:c.2204C>T, XM_011533542.3:c.2204C>T, XM_011533542.2:c.2204C>T, XM_011533542.1:c.2204C>T, NM_001349277.2:c.2387C>T, NM_001349277.1:c.2387C>T, NM_001349278.2:c.2378C>T, NM_001349278.1:c.2378C>T, NM_001349283.2:c.1826C>T, NM_001349283.1:c.1826C>T, NM_001349282.2:c.2120C>T, NM_001349282.1:c.2120C>T, NM_001349281.2:c.2120C>T, NM_001349281.1:c.2120C>T, XM_024453418.2:c.2330C>T, XM_024453418.1:c.2330C>T, XM_024453419.2:c.2321C>T, XM_024453419.1:c.2321C>T, NM_001349279.2:c.2279C>T, NM_001349279.1:c.2279C>T, XM_024453422.2:c.2120C>T, XM_024453422.1:c.2120C>T, XM_024453424.2:c.2120C>T, XM_024453424.1:c.2120C>T, NM_001195099.2:c.1826C>T, NM_001195099.1:c.1826C>T, NR_146112.2:n.3836C>T, NR_146112.1:n.4041C>T, XM_047447802.1:c.2186C>T, XM_047447803.1:c.2177C>T, XM_047447810.1:c.2078C>T, XM_047447807.1:c.2102C>T, XM_047447809.1:c.2087C>T, NM_001195098.1:c.1826C>T, XM_047447804.1:c.2120C>T, XM_047447805.1:c.2120C>T, NM_001349280.1:c.2120C>T, XM_047447800.1:c.2387C>T, XM_047447801.1:c.2378C>T, XM_047447813.1:c.1826C>T, XR_007095652.1:n.3845C>T, XM_047447808.1:c.2279C>T, XM_047447806.1:c.2288C>T, XR_007095653.1:n.2699C>T, NR_146111.1:n.2430C>T, XM_047447811.1:c.2387C>T, XM_047447812.1:c.2387C>T, XP_011531849.1:p.Ala707Val, NP_056014.2:p.Ala763Val, XP_011531844.1:p.Ala735Val, NP_001336206.1:p.Ala796Val, NP_001336207.1:p.Ala793Val, NP_001336212.1:p.Ala609Val, NP_001336211.1:p.Ala707Val, NP_001336210.1:p.Ala707Val, XP_024309186.1:p.Ala777Val, XP_024309187.1:p.Ala774Val, NP_001336208.1:p.Ala760Val, XP_024309190.1:p.Ala707Val, XP_024309192.1:p.Ala707Val, NP_001182028.1:p.Ala609Val, XP_047303758.1:p.Ala729Val, XP_047303759.1:p.Ala726Val, XP_047303766.1:p.Ala693Val, XP_047303763.1:p.Ala701Val, XP_047303765.1:p.Ala696Val, NP_001182027.1:p.Ala609Val, XP_047303760.1:p.Ala707Val, XP_047303761.1:p.Ala707Val, NP_001336209.1:p.Ala707Val, XP_047303756.1:p.Ala796Val, XP_047303757.1:p.Ala793Val, XP_047303769.1:p.Ala609Val, XP_047303764.1:p.Ala760Val, XP_047303762.1:p.Ala763Val, XP_047303767.1:p.Ala796Val, XP_047303768.1:p.Ala796Val

                8.

                rs1484112303 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  3:15696193 (GRCh38)
                  3:15737700 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:15696192:G:C
                  Gene:
                  BTD (Varview), ANKRD28 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.15696193G>C, NC_000003.11:g.15737700G>C, XM_011533547.4:c.1342C>G, XM_011533547.3:c.1342C>G, XM_011533547.2:c.1342C>G, XM_011533547.1:c.1342C>G, NM_015199.4:c.1510C>G, NM_015199.3:c.1510C>G, XM_011533542.4:c.1426C>G, XM_011533542.3:c.1426C>G, XM_011533542.2:c.1426C>G, XM_011533542.1:c.1426C>G, NM_001349277.2:c.1609C>G, NM_001349277.1:c.1609C>G, NM_001349278.2:c.1600C>G, NM_001349278.1:c.1600C>G, NM_001349283.2:c.1048C>G, NM_001349283.1:c.1048C>G, NM_001349282.2:c.1342C>G, NM_001349282.1:c.1342C>G, NM_001349281.2:c.1342C>G, NM_001349281.1:c.1342C>G, XM_024453418.2:c.1552C>G, XM_024453418.1:c.1552C>G, XM_024453419.2:c.1543C>G, XM_024453419.1:c.1543C>G, NM_001349279.2:c.1501C>G, NM_001349279.1:c.1501C>G, XM_024453422.2:c.1342C>G, XM_024453422.1:c.1342C>G, XM_024453424.2:c.1342C>G, XM_024453424.1:c.1342C>G, NM_001195099.2:c.1048C>G, NM_001195099.1:c.1048C>G, NR_146112.2:n.3058C>G, NR_146112.1:n.3263C>G, XM_047447802.1:c.1408C>G, XM_047447803.1:c.1399C>G, XM_047447810.1:c.1300C>G, XM_047447807.1:c.1324C>G, XM_047447809.1:c.1309C>G, NM_001195098.1:c.1048C>G, XM_047447804.1:c.1342C>G, XM_047447805.1:c.1342C>G, NM_001349280.1:c.1342C>G, XM_047447800.1:c.1609C>G, XM_047447801.1:c.1600C>G, XM_047447813.1:c.1048C>G, XR_007095652.1:n.3067C>G, XM_047447808.1:c.1501C>G, XM_047447806.1:c.1510C>G, XR_007095653.1:n.1921C>G, NR_146111.1:n.1652C>G, XM_047447811.1:c.1609C>G, XM_047447812.1:c.1609C>G, XP_011531849.1:p.Gln448Glu, NP_056014.2:p.Gln504Glu, XP_011531844.1:p.Gln476Glu, NP_001336206.1:p.Gln537Glu, NP_001336207.1:p.Gln534Glu, NP_001336212.1:p.Gln350Glu, NP_001336211.1:p.Gln448Glu, NP_001336210.1:p.Gln448Glu, XP_024309186.1:p.Gln518Glu, XP_024309187.1:p.Gln515Glu, NP_001336208.1:p.Gln501Glu, XP_024309190.1:p.Gln448Glu, XP_024309192.1:p.Gln448Glu, NP_001182028.1:p.Gln350Glu, XP_047303758.1:p.Gln470Glu, XP_047303759.1:p.Gln467Glu, XP_047303766.1:p.Gln434Glu, XP_047303763.1:p.Gln442Glu, XP_047303765.1:p.Gln437Glu, NP_001182027.1:p.Gln350Glu, XP_047303760.1:p.Gln448Glu, XP_047303761.1:p.Gln448Glu, NP_001336209.1:p.Gln448Glu, XP_047303756.1:p.Gln537Glu, XP_047303757.1:p.Gln534Glu, XP_047303769.1:p.Gln350Glu, XP_047303764.1:p.Gln501Glu, XP_047303762.1:p.Gln504Glu, XP_047303767.1:p.Gln537Glu, XP_047303768.1:p.Gln537Glu

                  9.

                  rs1482247962 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:15709734 (GRCh38)
                    3:15751241 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:15709733:T:C
                    Gene:
                    BTD (Varview), ANKRD28 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.15709734T>C, NC_000003.11:g.15751241T>C, XM_011533547.4:c.1082A>G, XM_011533547.3:c.1082A>G, XM_011533547.2:c.1082A>G, XM_011533547.1:c.1082A>G, NM_015199.4:c.1250A>G, NM_015199.3:c.1250A>G, XM_011533542.4:c.1166A>G, XM_011533542.3:c.1166A>G, XM_011533542.2:c.1166A>G, XM_011533542.1:c.1166A>G, NM_001349277.2:c.1349A>G, NM_001349277.1:c.1349A>G, NM_001349278.2:c.1340A>G, NM_001349278.1:c.1340A>G, NM_001349283.2:c.788A>G, NM_001349283.1:c.788A>G, NM_001349282.2:c.1082A>G, NM_001349282.1:c.1082A>G, NM_001349281.2:c.1082A>G, NM_001349281.1:c.1082A>G, XM_024453418.2:c.1292A>G, XM_024453418.1:c.1292A>G, XM_024453419.2:c.1283A>G, XM_024453419.1:c.1283A>G, NM_001349279.2:c.1241A>G, NM_001349279.1:c.1241A>G, XM_024453422.2:c.1082A>G, XM_024453422.1:c.1082A>G, XM_024453424.2:c.1082A>G, XM_024453424.1:c.1082A>G, NM_001195099.2:c.788A>G, NM_001195099.1:c.788A>G, NR_146112.2:n.2798A>G, NR_146112.1:n.3003A>G, XM_047447802.1:c.1148A>G, XM_047447803.1:c.1139A>G, XM_047447810.1:c.1040A>G, XM_047447807.1:c.1064A>G, XM_047447809.1:c.1049A>G, NM_001195098.1:c.788A>G, XM_047447804.1:c.1082A>G, XM_047447805.1:c.1082A>G, NM_001349280.1:c.1082A>G, XM_047447800.1:c.1349A>G, XM_047447801.1:c.1340A>G, XM_047447813.1:c.788A>G, XR_007095652.1:n.2807A>G, XM_047447808.1:c.1241A>G, XM_047447806.1:c.1250A>G, XR_007095653.1:n.1661A>G, NR_146111.1:n.1392A>G, XM_047447811.1:c.1349A>G, XM_047447812.1:c.1349A>G, XP_011531849.1:p.Asn361Ser, NP_056014.2:p.Asn417Ser, XP_011531844.1:p.Asn389Ser, NP_001336206.1:p.Asn450Ser, NP_001336207.1:p.Asn447Ser, NP_001336212.1:p.Asn263Ser, NP_001336211.1:p.Asn361Ser, NP_001336210.1:p.Asn361Ser, XP_024309186.1:p.Asn431Ser, XP_024309187.1:p.Asn428Ser, NP_001336208.1:p.Asn414Ser, XP_024309190.1:p.Asn361Ser, XP_024309192.1:p.Asn361Ser, NP_001182028.1:p.Asn263Ser, XP_047303758.1:p.Asn383Ser, XP_047303759.1:p.Asn380Ser, XP_047303766.1:p.Asn347Ser, XP_047303763.1:p.Asn355Ser, XP_047303765.1:p.Asn350Ser, NP_001182027.1:p.Asn263Ser, XP_047303760.1:p.Asn361Ser, XP_047303761.1:p.Asn361Ser, NP_001336209.1:p.Asn361Ser, XP_047303756.1:p.Asn450Ser, XP_047303757.1:p.Asn447Ser, XP_047303769.1:p.Asn263Ser, XP_047303764.1:p.Asn414Ser, XP_047303762.1:p.Asn417Ser, XP_047303767.1:p.Asn450Ser, XP_047303768.1:p.Asn450Ser

                    10.

                    rs1481023673 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:15712161 (GRCh38)
                      3:15753668 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:15712160:A:G
                      Gene:
                      BTD (Varview), ANKRD28 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                      HGVS:
                      NC_000003.12:g.15712161A>G, NC_000003.11:g.15753668A>G, XM_011533547.4:c.994T>C, XM_011533547.3:c.994T>C, XM_011533547.2:c.994T>C, XM_011533547.1:c.994T>C, NM_015199.4:c.1162T>C, NM_015199.3:c.1162T>C, XM_011533542.4:c.1078T>C, XM_011533542.3:c.1078T>C, XM_011533542.2:c.1078T>C, XM_011533542.1:c.1078T>C, NM_001349277.2:c.1261T>C, NM_001349277.1:c.1261T>C, NM_001349278.2:c.1252T>C, NM_001349278.1:c.1252T>C, NM_001349283.2:c.700T>C, NM_001349283.1:c.700T>C, NM_001349282.2:c.994T>C, NM_001349282.1:c.994T>C, NM_001349281.2:c.994T>C, NM_001349281.1:c.994T>C, XM_024453418.2:c.1204T>C, XM_024453418.1:c.1204T>C, XM_024453419.2:c.1195T>C, XM_024453419.1:c.1195T>C, NM_001349279.2:c.1153T>C, NM_001349279.1:c.1153T>C, XM_024453422.2:c.994T>C, XM_024453422.1:c.994T>C, XM_024453424.2:c.994T>C, XM_024453424.1:c.994T>C, NM_001195099.2:c.700T>C, NM_001195099.1:c.700T>C, NR_146112.2:n.2710T>C, NR_146112.1:n.2915T>C, XM_047447802.1:c.1060T>C, XM_047447803.1:c.1051T>C, XM_047447810.1:c.952T>C, XM_047447807.1:c.976T>C, XM_047447809.1:c.961T>C, NM_001195098.1:c.700T>C, XM_047447804.1:c.994T>C, XM_047447805.1:c.994T>C, NM_001349280.1:c.994T>C, XM_047447800.1:c.1261T>C, XM_047447801.1:c.1252T>C, XM_047447813.1:c.700T>C, XR_007095652.1:n.2719T>C, XM_047447808.1:c.1153T>C, XM_047447806.1:c.1162T>C, XR_007095653.1:n.1573T>C, NR_146111.1:n.1304T>C, XM_047447811.1:c.1261T>C, XM_047447812.1:c.1261T>C, NM_001370753.1:c.*1736A>G, XP_011531849.1:p.Cys332Arg, NP_056014.2:p.Cys388Arg, XP_011531844.1:p.Cys360Arg, NP_001336206.1:p.Cys421Arg, NP_001336207.1:p.Cys418Arg, NP_001336212.1:p.Cys234Arg, NP_001336211.1:p.Cys332Arg, NP_001336210.1:p.Cys332Arg, XP_024309186.1:p.Cys402Arg, XP_024309187.1:p.Cys399Arg, NP_001336208.1:p.Cys385Arg, XP_024309190.1:p.Cys332Arg, XP_024309192.1:p.Cys332Arg, NP_001182028.1:p.Cys234Arg, XP_047303758.1:p.Cys354Arg, XP_047303759.1:p.Cys351Arg, XP_047303766.1:p.Cys318Arg, XP_047303763.1:p.Cys326Arg, XP_047303765.1:p.Cys321Arg, NP_001182027.1:p.Cys234Arg, XP_047303760.1:p.Cys332Arg, XP_047303761.1:p.Cys332Arg, NP_001336209.1:p.Cys332Arg, XP_047303756.1:p.Cys421Arg, XP_047303757.1:p.Cys418Arg, XP_047303769.1:p.Cys234Arg, XP_047303764.1:p.Cys385Arg, XP_047303762.1:p.Cys388Arg, XP_047303767.1:p.Cys421Arg, XP_047303768.1:p.Cys421Arg

                      11.

                      rs1480232633 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        3:15686078 (GRCh38)
                        3:15727585 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:15686074:ACACA:ACA
                        Gene:
                        BTD (Varview), ANKRD28 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                        HGVS:
                        NC_000003.12:g.15686076CA[1], NC_000003.11:g.15727583CA[1], XM_011533547.4:c.1837_1838del, XM_011533547.3:c.1837_1838del, XM_011533547.2:c.1837_1838del, XM_011533547.1:c.1837_1838del, NM_015199.4:c.2005_2006del, NM_015199.3:c.2005_2006del, XM_011533542.4:c.1921_1922del, XM_011533542.3:c.1921_1922del, XM_011533542.2:c.1921_1922del, XM_011533542.1:c.1921_1922del, NM_001349277.2:c.2104_2105del, NM_001349277.1:c.2104_2105del, NM_001349278.2:c.2095_2096del, NM_001349278.1:c.2095_2096del, NM_001349283.2:c.1543_1544del, NM_001349283.1:c.1543_1544del, NM_001349282.2:c.1837_1838del, NM_001349282.1:c.1837_1838del, NM_001349281.2:c.1837_1838del, NM_001349281.1:c.1837_1838del, XM_024453418.2:c.2047_2048del, XM_024453418.1:c.2047_2048del, XM_024453419.2:c.2038_2039del, XM_024453419.1:c.2038_2039del, NM_001349279.2:c.1996_1997del, NM_001349279.1:c.1996_1997del, XM_024453422.2:c.1837_1838del, XM_024453422.1:c.1837_1838del, XM_024453424.2:c.1837_1838del, XM_024453424.1:c.1837_1838del, NM_001195099.2:c.1543_1544del, NM_001195099.1:c.1543_1544del, NR_146112.2:n.3551GT[1], NR_146112.1:n.3756GT[1], XM_047447802.1:c.1903_1904del, XM_047447803.1:c.1894_1895del, XM_047447810.1:c.1795_1796del, XM_047447807.1:c.1819_1820del, XM_047447809.1:c.1804_1805del, NM_001195098.1:c.1543_1544del, XM_047447804.1:c.1837_1838del, XM_047447805.1:c.1837_1838del, NM_001349280.1:c.1837_1838del, XM_047447800.1:c.2104_2105del, XM_047447801.1:c.2095_2096del, XM_047447813.1:c.1543_1544del, XR_007095652.1:n.3560GT[1], XM_047447808.1:c.1996_1997del, XM_047447806.1:c.2005_2006del, XR_007095653.1:n.2414GT[1], NR_146111.1:n.2145GT[1], XM_047447811.1:c.2104_2105del, XM_047447812.1:c.2104_2105del, XP_011531849.1:p.Val613fs, NP_056014.2:p.Val669fs, XP_011531844.1:p.Val641fs, NP_001336206.1:p.Val702fs, NP_001336207.1:p.Val699fs, NP_001336212.1:p.Val515fs, NP_001336211.1:p.Val613fs, NP_001336210.1:p.Val613fs, XP_024309186.1:p.Val683fs, XP_024309187.1:p.Val680fs, NP_001336208.1:p.Val666fs, XP_024309190.1:p.Val613fs, XP_024309192.1:p.Val613fs, NP_001182028.1:p.Val515fs, XP_047303758.1:p.Val635fs, XP_047303759.1:p.Val632fs, XP_047303766.1:p.Val599fs, XP_047303763.1:p.Val607fs, XP_047303765.1:p.Val602fs, NP_001182027.1:p.Val515fs, XP_047303760.1:p.Val613fs, XP_047303761.1:p.Val613fs, NP_001336209.1:p.Val613fs, XP_047303756.1:p.Val702fs, XP_047303757.1:p.Val699fs, XP_047303769.1:p.Val515fs, XP_047303764.1:p.Val666fs, XP_047303762.1:p.Val669fs, XP_047303767.1:p.Val702fs, XP_047303768.1:p.Val702fs

                        12.

                        rs1480070903 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          3:15735493 (GRCh38)
                          3:15777000 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:15735492:A:G
                          Gene:
                          ANKRD28 (Varview)
                          Functional Consequence:
                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.15735493A>G, NC_000003.11:g.15777000A>G, XM_011533547.4:c.299T>C, XM_011533547.3:c.299T>C, XM_011533547.2:c.299T>C, XM_011533547.1:c.299T>C, NM_015199.4:c.467T>C, NM_015199.3:c.467T>C, XM_011533542.4:c.383T>C, XM_011533542.3:c.383T>C, XM_011533542.2:c.383T>C, XM_011533542.1:c.383T>C, NM_001349277.2:c.566T>C, NM_001349277.1:c.566T>C, NM_001349278.2:c.557T>C, NM_001349278.1:c.557T>C, NM_001349283.2:c.5T>C, NM_001349283.1:c.5T>C, NM_001349282.2:c.299T>C, NM_001349282.1:c.299T>C, NM_001349281.2:c.299T>C, NM_001349281.1:c.299T>C, XM_024453418.2:c.509T>C, XM_024453418.1:c.509T>C, XM_024453419.2:c.500T>C, XM_024453419.1:c.500T>C, NM_001349279.2:c.458T>C, NM_001349279.1:c.458T>C, XM_024453422.2:c.299T>C, XM_024453422.1:c.299T>C, XM_024453424.2:c.299T>C, XM_024453424.1:c.299T>C, NM_001195099.2:c.5T>C, NM_001195099.1:c.5T>C, NR_146112.2:n.2015T>C, NR_146112.1:n.2220T>C, XM_047447802.1:c.365T>C, XM_047447803.1:c.356T>C, XM_047447810.1:c.257T>C, XM_047447807.1:c.281T>C, XM_047447809.1:c.266T>C, NM_001195098.1:c.5T>C, XM_047447804.1:c.299T>C, XM_047447805.1:c.299T>C, NM_001349280.1:c.299T>C, XM_047447800.1:c.566T>C, XM_047447801.1:c.557T>C, XM_047447813.1:c.5T>C, XR_007095652.1:n.2024T>C, XM_047447808.1:c.458T>C, XM_047447806.1:c.467T>C, XR_007095653.1:n.878T>C, NR_146111.1:n.583T>C, XM_047447811.1:c.566T>C, XM_047447812.1:c.566T>C, XP_011531849.1:p.Val100Ala, NP_056014.2:p.Val156Ala, XP_011531844.1:p.Val128Ala, NP_001336206.1:p.Val189Ala, NP_001336207.1:p.Val186Ala, NP_001336212.1:p.Val2Ala, NP_001336211.1:p.Val100Ala, NP_001336210.1:p.Val100Ala, XP_024309186.1:p.Val170Ala, XP_024309187.1:p.Val167Ala, NP_001336208.1:p.Val153Ala, XP_024309190.1:p.Val100Ala, XP_024309192.1:p.Val100Ala, NP_001182028.1:p.Val2Ala, XP_047303758.1:p.Val122Ala, XP_047303759.1:p.Val119Ala, XP_047303766.1:p.Val86Ala, XP_047303763.1:p.Val94Ala, XP_047303765.1:p.Val89Ala, NP_001182027.1:p.Val2Ala, XP_047303760.1:p.Val100Ala, XP_047303761.1:p.Val100Ala, NP_001336209.1:p.Val100Ala, XP_047303756.1:p.Val189Ala, XP_047303757.1:p.Val186Ala, XP_047303769.1:p.Val2Ala, XP_047303764.1:p.Val153Ala, XP_047303762.1:p.Val156Ala, XP_047303767.1:p.Val189Ala, XP_047303768.1:p.Val189Ala

                          13.

                          rs1477757295 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            3:15696204 (GRCh38)
                            3:15737711 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:15696203:A:T
                            Gene:
                            BTD (Varview), ANKRD28 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.15696204A>T, NC_000003.11:g.15737711A>T, XM_011533547.4:c.1331T>A, XM_011533547.3:c.1331T>A, XM_011533547.2:c.1331T>A, XM_011533547.1:c.1331T>A, NM_015199.4:c.1499T>A, NM_015199.3:c.1499T>A, XM_011533542.4:c.1415T>A, XM_011533542.3:c.1415T>A, XM_011533542.2:c.1415T>A, XM_011533542.1:c.1415T>A, NM_001349277.2:c.1598T>A, NM_001349277.1:c.1598T>A, NM_001349278.2:c.1589T>A, NM_001349278.1:c.1589T>A, NM_001349283.2:c.1037T>A, NM_001349283.1:c.1037T>A, NM_001349282.2:c.1331T>A, NM_001349282.1:c.1331T>A, NM_001349281.2:c.1331T>A, NM_001349281.1:c.1331T>A, XM_024453418.2:c.1541T>A, XM_024453418.1:c.1541T>A, XM_024453419.2:c.1532T>A, XM_024453419.1:c.1532T>A, NM_001349279.2:c.1490T>A, NM_001349279.1:c.1490T>A, XM_024453422.2:c.1331T>A, XM_024453422.1:c.1331T>A, XM_024453424.2:c.1331T>A, XM_024453424.1:c.1331T>A, NM_001195099.2:c.1037T>A, NM_001195099.1:c.1037T>A, NR_146112.2:n.3047T>A, NR_146112.1:n.3252T>A, XM_047447802.1:c.1397T>A, XM_047447803.1:c.1388T>A, XM_047447810.1:c.1289T>A, XM_047447807.1:c.1313T>A, XM_047447809.1:c.1298T>A, NM_001195098.1:c.1037T>A, XM_047447804.1:c.1331T>A, XM_047447805.1:c.1331T>A, NM_001349280.1:c.1331T>A, XM_047447800.1:c.1598T>A, XM_047447801.1:c.1589T>A, XM_047447813.1:c.1037T>A, XR_007095652.1:n.3056T>A, XM_047447808.1:c.1490T>A, XM_047447806.1:c.1499T>A, XR_007095653.1:n.1910T>A, NR_146111.1:n.1641T>A, XM_047447811.1:c.1598T>A, XM_047447812.1:c.1598T>A, XP_011531849.1:p.Ile444Asn, NP_056014.2:p.Ile500Asn, XP_011531844.1:p.Ile472Asn, NP_001336206.1:p.Ile533Asn, NP_001336207.1:p.Ile530Asn, NP_001336212.1:p.Ile346Asn, NP_001336211.1:p.Ile444Asn, NP_001336210.1:p.Ile444Asn, XP_024309186.1:p.Ile514Asn, XP_024309187.1:p.Ile511Asn, NP_001336208.1:p.Ile497Asn, XP_024309190.1:p.Ile444Asn, XP_024309192.1:p.Ile444Asn, NP_001182028.1:p.Ile346Asn, XP_047303758.1:p.Ile466Asn, XP_047303759.1:p.Ile463Asn, XP_047303766.1:p.Ile430Asn, XP_047303763.1:p.Ile438Asn, XP_047303765.1:p.Ile433Asn, NP_001182027.1:p.Ile346Asn, XP_047303760.1:p.Ile444Asn, XP_047303761.1:p.Ile444Asn, NP_001336209.1:p.Ile444Asn, XP_047303756.1:p.Ile533Asn, XP_047303757.1:p.Ile530Asn, XP_047303769.1:p.Ile346Asn, XP_047303764.1:p.Ile497Asn, XP_047303762.1:p.Ile500Asn, XP_047303767.1:p.Ile533Asn, XP_047303768.1:p.Ile533Asn

                            14.

                            rs1475686674 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:15670502 (GRCh38)
                              3:15712009 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:15670501:G:A
                              Gene:
                              BTD (Varview), ANKRD28 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (GnomAD_exomes)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000003.12:g.15670502G>A, NC_000003.11:g.15712009G>A, XM_011533547.4:c.2762C>T, XM_011533547.3:c.2762C>T, XM_011533547.2:c.2762C>T, XM_011533547.1:c.2762C>T, NM_015199.4:c.2930C>T, NM_015199.3:c.2930C>T, XM_011533542.4:c.2846C>T, XM_011533542.3:c.2846C>T, XM_011533542.2:c.2846C>T, XM_011533542.1:c.2846C>T, NM_001349277.2:c.3029C>T, NM_001349277.1:c.3029C>T, NM_001349278.2:c.3020C>T, NM_001349278.1:c.3020C>T, NM_001349283.2:c.2468C>T, NM_001349283.1:c.2468C>T, NM_001349282.2:c.2762C>T, NM_001349282.1:c.2762C>T, NM_001349281.2:c.2762C>T, NM_001349281.1:c.2762C>T, XM_024453418.2:c.2972C>T, XM_024453418.1:c.2972C>T, XM_024453419.2:c.2963C>T, XM_024453419.1:c.2963C>T, NM_001349279.2:c.2921C>T, NM_001349279.1:c.2921C>T, XM_024453422.2:c.2762C>T, XM_024453422.1:c.2762C>T, XM_024453424.2:c.2762C>T, XM_024453424.1:c.2762C>T, NM_001195099.2:c.2468C>T, NM_001195099.1:c.2468C>T, NR_146112.2:n.4478C>T, NR_146112.1:n.4683C>T, XM_047447802.1:c.2828C>T, XM_047447803.1:c.2819C>T, XM_047447810.1:c.2720C>T, XM_047447807.1:c.2744C>T, XM_047447809.1:c.2729C>T, NM_001195098.1:c.2468C>T, XM_047447804.1:c.2762C>T, XM_047447805.1:c.2762C>T, NM_001349280.1:c.2762C>T, XM_047447813.1:c.2468C>T, XR_007095652.1:n.4487C>T, XR_007095653.1:n.3341C>T, NR_146111.1:n.3072C>T, XP_011531849.1:p.Ala921Val, NP_056014.2:p.Ala977Val, XP_011531844.1:p.Ala949Val, NP_001336206.1:p.Ala1010Val, NP_001336207.1:p.Ala1007Val, NP_001336212.1:p.Ala823Val, NP_001336211.1:p.Ala921Val, NP_001336210.1:p.Ala921Val, XP_024309186.1:p.Ala991Val, XP_024309187.1:p.Ala988Val, NP_001336208.1:p.Ala974Val, XP_024309190.1:p.Ala921Val, XP_024309192.1:p.Ala921Val, NP_001182028.1:p.Ala823Val, XP_047303758.1:p.Ala943Val, XP_047303759.1:p.Ala940Val, XP_047303766.1:p.Ala907Val, XP_047303763.1:p.Ala915Val, XP_047303765.1:p.Ala910Val, NP_001182027.1:p.Ala823Val, XP_047303760.1:p.Ala921Val, XP_047303761.1:p.Ala921Val, NP_001336209.1:p.Ala921Val, XP_047303769.1:p.Ala823Val

                              15.

                              rs1475163337 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                3:15724412 (GRCh38)
                                3:15765919 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:15724411:T:A
                                Gene:
                                ANKRD28 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000003.12:g.15724412T>A, NC_000003.11:g.15765919T>A, XM_011533547.4:c.495A>T, XM_011533547.3:c.495A>T, XM_011533547.2:c.495A>T, XM_011533547.1:c.495A>T, NM_015199.4:c.663A>T, NM_015199.3:c.663A>T, XM_011533542.4:c.579A>T, XM_011533542.3:c.579A>T, XM_011533542.2:c.579A>T, XM_011533542.1:c.579A>T, NM_001349277.2:c.762A>T, NM_001349277.1:c.762A>T, NM_001349278.2:c.753A>T, NM_001349278.1:c.753A>T, NM_001349283.2:c.201A>T, NM_001349283.1:c.201A>T, NM_001349282.2:c.495A>T, NM_001349282.1:c.495A>T, NM_001349281.2:c.495A>T, NM_001349281.1:c.495A>T, XM_024453418.2:c.705A>T, XM_024453418.1:c.705A>T, XM_024453419.2:c.696A>T, XM_024453419.1:c.696A>T, NM_001349279.2:c.654A>T, NM_001349279.1:c.654A>T, XM_024453422.2:c.495A>T, XM_024453422.1:c.495A>T, XM_024453424.2:c.495A>T, XM_024453424.1:c.495A>T, NM_001195099.2:c.201A>T, NM_001195099.1:c.201A>T, NR_146112.2:n.2211A>T, NR_146112.1:n.2416A>T, XM_047447802.1:c.561A>T, XM_047447803.1:c.552A>T, XM_047447810.1:c.453A>T, XM_047447807.1:c.477A>T, XM_047447809.1:c.462A>T, NM_001195098.1:c.201A>T, XM_047447804.1:c.495A>T, XM_047447805.1:c.495A>T, NM_001349280.1:c.495A>T, XM_047447800.1:c.762A>T, XM_047447801.1:c.753A>T, XM_047447813.1:c.201A>T, XR_007095652.1:n.2220A>T, XM_047447808.1:c.654A>T, XM_047447806.1:c.663A>T, XR_007095653.1:n.1074A>T, NR_146111.1:n.779A>T, XM_047447811.1:c.762A>T, XM_047447812.1:c.762A>T

                                16.

                                rs1474329334 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  3:15690188 (GRCh38)
                                  3:15731695 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:15690187:C:T
                                  Gene:
                                  BTD (Varview), ANKRD28 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.15690188C>T, NC_000003.11:g.15731695C>T, XM_011533547.4:c.1536G>A, XM_011533547.3:c.1536G>A, XM_011533547.2:c.1536G>A, XM_011533547.1:c.1536G>A, NM_015199.4:c.1704G>A, NM_015199.3:c.1704G>A, XM_011533542.4:c.1620G>A, XM_011533542.3:c.1620G>A, XM_011533542.2:c.1620G>A, XM_011533542.1:c.1620G>A, NM_001349277.2:c.1803G>A, NM_001349277.1:c.1803G>A, NM_001349278.2:c.1794G>A, NM_001349278.1:c.1794G>A, NM_001349283.2:c.1242G>A, NM_001349283.1:c.1242G>A, NM_001349282.2:c.1536G>A, NM_001349282.1:c.1536G>A, NM_001349281.2:c.1536G>A, NM_001349281.1:c.1536G>A, XM_024453418.2:c.1746G>A, XM_024453418.1:c.1746G>A, XM_024453419.2:c.1737G>A, XM_024453419.1:c.1737G>A, NM_001349279.2:c.1695G>A, NM_001349279.1:c.1695G>A, XM_024453422.2:c.1536G>A, XM_024453422.1:c.1536G>A, XM_024453424.2:c.1536G>A, XM_024453424.1:c.1536G>A, NM_001195099.2:c.1242G>A, NM_001195099.1:c.1242G>A, NR_146112.2:n.3252G>A, NR_146112.1:n.3457G>A, XM_047447802.1:c.1602G>A, XM_047447803.1:c.1593G>A, XM_047447810.1:c.1494G>A, XM_047447807.1:c.1518G>A, XM_047447809.1:c.1503G>A, NM_001195098.1:c.1242G>A, XM_047447804.1:c.1536G>A, XM_047447805.1:c.1536G>A, NM_001349280.1:c.1536G>A, XM_047447800.1:c.1803G>A, XM_047447801.1:c.1794G>A, XM_047447813.1:c.1242G>A, XR_007095652.1:n.3261G>A, XM_047447808.1:c.1695G>A, XM_047447806.1:c.1704G>A, XR_007095653.1:n.2115G>A, NR_146111.1:n.1846G>A, XM_047447811.1:c.1803G>A, XM_047447812.1:c.1803G>A

                                  17.

                                  rs1473689681 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    3:15724498 (GRCh38)
                                    3:15766005 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:15724497:C:G
                                    Gene:
                                    ANKRD28 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.15724498C>G, NC_000003.11:g.15766005C>G, XM_011533547.4:c.409G>C, XM_011533547.3:c.409G>C, XM_011533547.2:c.409G>C, XM_011533547.1:c.409G>C, NM_015199.4:c.577G>C, NM_015199.3:c.577G>C, XM_011533542.4:c.493G>C, XM_011533542.3:c.493G>C, XM_011533542.2:c.493G>C, XM_011533542.1:c.493G>C, NM_001349277.2:c.676G>C, NM_001349277.1:c.676G>C, NM_001349278.2:c.667G>C, NM_001349278.1:c.667G>C, NM_001349283.2:c.115G>C, NM_001349283.1:c.115G>C, NM_001349282.2:c.409G>C, NM_001349282.1:c.409G>C, NM_001349281.2:c.409G>C, NM_001349281.1:c.409G>C, XM_024453418.2:c.619G>C, XM_024453418.1:c.619G>C, XM_024453419.2:c.610G>C, XM_024453419.1:c.610G>C, NM_001349279.2:c.568G>C, NM_001349279.1:c.568G>C, XM_024453422.2:c.409G>C, XM_024453422.1:c.409G>C, XM_024453424.2:c.409G>C, XM_024453424.1:c.409G>C, NM_001195099.2:c.115G>C, NM_001195099.1:c.115G>C, NR_146112.2:n.2125G>C, NR_146112.1:n.2330G>C, XM_047447802.1:c.475G>C, XM_047447803.1:c.466G>C, XM_047447810.1:c.367G>C, XM_047447807.1:c.391G>C, XM_047447809.1:c.376G>C, NM_001195098.1:c.115G>C, XM_047447804.1:c.409G>C, XM_047447805.1:c.409G>C, NM_001349280.1:c.409G>C, XM_047447800.1:c.676G>C, XM_047447801.1:c.667G>C, XM_047447813.1:c.115G>C, XR_007095652.1:n.2134G>C, XM_047447808.1:c.568G>C, XM_047447806.1:c.577G>C, XR_007095653.1:n.988G>C, NR_146111.1:n.693G>C, XM_047447811.1:c.676G>C, XM_047447812.1:c.676G>C, XP_011531849.1:p.Val137Leu, NP_056014.2:p.Val193Leu, XP_011531844.1:p.Val165Leu, NP_001336206.1:p.Val226Leu, NP_001336207.1:p.Val223Leu, NP_001336212.1:p.Val39Leu, NP_001336211.1:p.Val137Leu, NP_001336210.1:p.Val137Leu, XP_024309186.1:p.Val207Leu, XP_024309187.1:p.Val204Leu, NP_001336208.1:p.Val190Leu, XP_024309190.1:p.Val137Leu, XP_024309192.1:p.Val137Leu, NP_001182028.1:p.Val39Leu, XP_047303758.1:p.Val159Leu, XP_047303759.1:p.Val156Leu, XP_047303766.1:p.Val123Leu, XP_047303763.1:p.Val131Leu, XP_047303765.1:p.Val126Leu, NP_001182027.1:p.Val39Leu, XP_047303760.1:p.Val137Leu, XP_047303761.1:p.Val137Leu, NP_001336209.1:p.Val137Leu, XP_047303756.1:p.Val226Leu, XP_047303757.1:p.Val223Leu, XP_047303769.1:p.Val39Leu, XP_047303764.1:p.Val190Leu, XP_047303762.1:p.Val193Leu, XP_047303767.1:p.Val226Leu, XP_047303768.1:p.Val226Leu

                                    18.

                                    rs1471031918 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      3:15737123 (GRCh38)
                                      3:15778630 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:15737122:T:C
                                      Gene:
                                      ANKRD28 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.15737123T>C, NC_000003.11:g.15778630T>C, XM_011533547.4:c.204A>G, XM_011533547.3:c.204A>G, XM_011533547.2:c.204A>G, XM_011533547.1:c.204A>G, NM_015199.4:c.372A>G, NM_015199.3:c.372A>G, XM_011533542.4:c.288A>G, XM_011533542.3:c.288A>G, XM_011533542.2:c.288A>G, XM_011533542.1:c.288A>G, NM_001349277.2:c.471A>G, NM_001349277.1:c.471A>G, NM_001349278.2:c.462A>G, NM_001349278.1:c.462A>G, NM_001349283.2:c.-91A>G, NM_001349283.1:c.-91A>G, NM_001349282.2:c.204A>G, NM_001349282.1:c.204A>G, NM_001349281.2:c.204A>G, NM_001349281.1:c.204A>G, XM_024453418.2:c.414A>G, XM_024453418.1:c.414A>G, XM_024453419.2:c.405A>G, XM_024453419.1:c.405A>G, NM_001349279.2:c.363A>G, NM_001349279.1:c.363A>G, XM_024453422.2:c.204A>G, XM_024453422.1:c.204A>G, XM_024453424.2:c.204A>G, XM_024453424.1:c.204A>G, NM_001195099.2:c.-91A>G, NM_001195099.1:c.-91A>G, NR_146112.2:n.1920A>G, NR_146112.1:n.2125A>G, XM_047447807.1:c.186A>G, NM_001195098.1:c.-91A>G, XM_047447804.1:c.204A>G, XM_047447805.1:c.204A>G, NM_001349280.1:c.204A>G, XM_047447800.1:c.471A>G, XM_047447801.1:c.462A>G, XM_047447813.1:c.-91A>G, XR_007095652.1:n.1929A>G, XM_047447808.1:c.363A>G, XM_047447806.1:c.372A>G, XR_007095653.1:n.783A>G, NR_146111.1:n.488A>G, XM_047447811.1:c.471A>G, XM_047447812.1:c.471A>G

                                      19.

                                      rs1470379146 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        3:15721040 (GRCh38)
                                        3:15762547 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:15721039:A:C
                                        Gene:
                                        BTD (Varview), ANKRD28 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000354/6 (TOMMO)
                                        HGVS:
                                        NC_000003.12:g.15721040A>C, NC_000003.11:g.15762547A>C, XM_011533547.4:c.613T>G, XM_011533547.3:c.613T>G, XM_011533547.2:c.613T>G, XM_011533547.1:c.613T>G, NM_015199.4:c.781T>G, NM_015199.3:c.781T>G, XM_011533542.4:c.697T>G, XM_011533542.3:c.697T>G, XM_011533542.2:c.697T>G, XM_011533542.1:c.697T>G, NM_001349277.2:c.880T>G, NM_001349277.1:c.880T>G, NM_001349278.2:c.871T>G, NM_001349278.1:c.871T>G, NM_001349283.2:c.319T>G, NM_001349283.1:c.319T>G, NM_001349282.2:c.613T>G, NM_001349282.1:c.613T>G, NM_001349281.2:c.613T>G, NM_001349281.1:c.613T>G, XM_024453418.2:c.823T>G, XM_024453418.1:c.823T>G, XM_024453419.2:c.814T>G, XM_024453419.1:c.814T>G, NM_001349279.2:c.772T>G, NM_001349279.1:c.772T>G, XM_024453422.2:c.613T>G, XM_024453422.1:c.613T>G, XM_024453424.2:c.613T>G, XM_024453424.1:c.613T>G, NM_001195099.2:c.319T>G, NM_001195099.1:c.319T>G, NR_146112.2:n.2329T>G, NR_146112.1:n.2534T>G, XM_047447802.1:c.679T>G, XM_047447803.1:c.670T>G, XM_047447810.1:c.571T>G, XM_047447807.1:c.595T>G, XM_047447809.1:c.580T>G, NM_001195098.1:c.319T>G, XM_047447804.1:c.613T>G, XM_047447805.1:c.613T>G, NM_001349280.1:c.613T>G, XM_047447800.1:c.880T>G, XM_047447801.1:c.871T>G, XM_047447813.1:c.319T>G, XR_007095652.1:n.2338T>G, XM_047447808.1:c.772T>G, XM_047447806.1:c.781T>G, XR_007095653.1:n.1192T>G, NR_146111.1:n.897T>G, XM_047447811.1:c.880T>G, XM_047447812.1:c.880T>G, XP_011531849.1:p.Cys205Gly, NP_056014.2:p.Cys261Gly, XP_011531844.1:p.Cys233Gly, NP_001336206.1:p.Cys294Gly, NP_001336207.1:p.Cys291Gly, NP_001336212.1:p.Cys107Gly, NP_001336211.1:p.Cys205Gly, NP_001336210.1:p.Cys205Gly, XP_024309186.1:p.Cys275Gly, XP_024309187.1:p.Cys272Gly, NP_001336208.1:p.Cys258Gly, XP_024309190.1:p.Cys205Gly, XP_024309192.1:p.Cys205Gly, NP_001182028.1:p.Cys107Gly, XP_047303758.1:p.Cys227Gly, XP_047303759.1:p.Cys224Gly, XP_047303766.1:p.Cys191Gly, XP_047303763.1:p.Cys199Gly, XP_047303765.1:p.Cys194Gly, NP_001182027.1:p.Cys107Gly, XP_047303760.1:p.Cys205Gly, XP_047303761.1:p.Cys205Gly, NP_001336209.1:p.Cys205Gly, XP_047303756.1:p.Cys294Gly, XP_047303757.1:p.Cys291Gly, XP_047303769.1:p.Cys107Gly, XP_047303764.1:p.Cys258Gly, XP_047303762.1:p.Cys261Gly, XP_047303767.1:p.Cys294Gly, XP_047303768.1:p.Cys294Gly

                                        20.

                                        rs1469459452 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          3:15707943 (GRCh38)
                                          3:15749450 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:15707942:T:A
                                          Gene:
                                          BTD (Varview), ANKRD28 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000003.12:g.15707943T>A, NC_000003.11:g.15749450T>A, XM_011533547.4:c.1270A>T, XM_011533547.3:c.1270A>T, XM_011533547.2:c.1270A>T, XM_011533547.1:c.1270A>T, NM_015199.4:c.1438A>T, NM_015199.3:c.1438A>T, XM_011533542.4:c.1354A>T, XM_011533542.3:c.1354A>T, XM_011533542.2:c.1354A>T, XM_011533542.1:c.1354A>T, NM_001349277.2:c.1537A>T, NM_001349277.1:c.1537A>T, NM_001349278.2:c.1528A>T, NM_001349278.1:c.1528A>T, NM_001349283.2:c.976A>T, NM_001349283.1:c.976A>T, NM_001349282.2:c.1270A>T, NM_001349282.1:c.1270A>T, NM_001349281.2:c.1270A>T, NM_001349281.1:c.1270A>T, XM_024453418.2:c.1480A>T, XM_024453418.1:c.1480A>T, XM_024453419.2:c.1471A>T, XM_024453419.1:c.1471A>T, NM_001349279.2:c.1429A>T, NM_001349279.1:c.1429A>T, XM_024453422.2:c.1270A>T, XM_024453422.1:c.1270A>T, XM_024453424.2:c.1270A>T, XM_024453424.1:c.1270A>T, NM_001195099.2:c.976A>T, NM_001195099.1:c.976A>T, NR_146112.2:n.2986A>T, NR_146112.1:n.3191A>T, XM_047447802.1:c.1336A>T, XM_047447803.1:c.1327A>T, XM_047447810.1:c.1228A>T, XM_047447807.1:c.1252A>T, XM_047447809.1:c.1237A>T, NM_001195098.1:c.976A>T, XM_047447804.1:c.1270A>T, XM_047447805.1:c.1270A>T, NM_001349280.1:c.1270A>T, XM_047447800.1:c.1537A>T, XM_047447801.1:c.1528A>T, XM_047447813.1:c.976A>T, XR_007095652.1:n.2995A>T, XM_047447808.1:c.1429A>T, XM_047447806.1:c.1438A>T, XR_007095653.1:n.1849A>T, NR_146111.1:n.1580A>T, XM_047447811.1:c.1537A>T, XM_047447812.1:c.1537A>T, XP_011531849.1:p.Thr424Ser, NP_056014.2:p.Thr480Ser, XP_011531844.1:p.Thr452Ser, NP_001336206.1:p.Thr513Ser, NP_001336207.1:p.Thr510Ser, NP_001336212.1:p.Thr326Ser, NP_001336211.1:p.Thr424Ser, NP_001336210.1:p.Thr424Ser, XP_024309186.1:p.Thr494Ser, XP_024309187.1:p.Thr491Ser, NP_001336208.1:p.Thr477Ser, XP_024309190.1:p.Thr424Ser, XP_024309192.1:p.Thr424Ser, NP_001182028.1:p.Thr326Ser, XP_047303758.1:p.Thr446Ser, XP_047303759.1:p.Thr443Ser, XP_047303766.1:p.Thr410Ser, XP_047303763.1:p.Thr418Ser, XP_047303765.1:p.Thr413Ser, NP_001182027.1:p.Thr326Ser, XP_047303760.1:p.Thr424Ser, XP_047303761.1:p.Thr424Ser, NP_001336209.1:p.Thr424Ser, XP_047303756.1:p.Thr513Ser, XP_047303757.1:p.Thr510Ser, XP_047303769.1:p.Thr326Ser, XP_047303764.1:p.Thr477Ser, XP_047303762.1:p.Thr480Ser, XP_047303767.1:p.Thr513Ser, XP_047303768.1:p.Thr513Ser

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