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Items: 1 to 20 of 996

1.

rs1489630093 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    12:101659797 (GRCh38)
    12:102053575 (GRCh37)
    Canonical SPDI:
    NC_000012.12:101659796:A:T
    Gene:
    MYBPC1 (Varview), LOC124902996 (Varview)
    Functional Consequence:
    synonymous_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000015/4 (TOPMED)
    HGVS:
    NC_000012.12:g.101659797A>T, NC_000012.11:g.102053575A>T, NG_031912.1:g.69867A>T, NM_002465.4:c.1893A>T, NM_002465.3:c.1893A>T, NM_206819.4:c.1893A>T, NM_206819.3:c.1893A>T, NM_206819.2:c.1893A>T, NM_206820.4:c.1818A>T, NM_206820.3:c.1818A>T, NM_206820.2:c.1818A>T, NM_206821.4:c.1818A>T, NM_206821.3:c.1818A>T, NM_206821.2:c.1818A>T, NM_001254718.3:c.1818A>T, NM_001254718.2:c.1818A>T, NM_001254718.1:c.1818A>T, NM_001254719.3:c.1818A>T, NM_001254719.2:c.1818A>T, NM_001254719.1:c.1818A>T, NM_001254720.3:c.1782A>T, NM_001254720.2:c.1782A>T, NM_001254720.1:c.1782A>T, NM_001254721.3:c.1761A>T, NM_001254721.2:c.1761A>T, NM_001254721.1:c.1761A>T, NM_001254722.3:c.1740A>T, NM_001254722.2:c.1740A>T, NM_001254722.1:c.1740A>T, NM_001254723.3:c.1779A>T, NM_001254723.2:c.1779A>T, NM_001254723.1:c.1779A>T, NM_001404675.1:c.1893A>T, NM_001404678.1:c.1761A>T, NM_001404679.1:c.1683A>T, NM_001404680.1:c.1740A>T, NM_001404676.1:c.1761A>T, NM_001404681.1:c.1683A>T, NM_001404677.1:c.1683A>T, XM_006719406.5:c.1893A>T, XM_006719406.4:c.1893A>T, XM_006719406.3:c.1893A>T, XM_006719406.2:c.1893A>T, XM_006719406.1:c.1893A>T, XM_006719410.5:c.1893A>T, XM_006719410.4:c.1893A>T, XM_006719410.3:c.1893A>T, XM_006719410.2:c.1893A>T, XM_006719410.1:c.1893A>T, XM_006719405.5:c.1893A>T, XM_006719405.4:c.1893A>T, XM_006719405.3:c.1893A>T, XM_006719405.2:c.1893A>T, XM_006719405.1:c.1893A>T, XM_006719408.5:c.1893A>T, XM_005268876.5:c.1857A>T, XM_005268876.4:c.1857A>T, XM_005268876.3:c.1857A>T, XM_005268876.2:c.1857A>T, XM_005268876.1:c.1857A>T, XM_006719411.4:c.1818A>T, XM_006719411.3:c.1818A>T, XM_006719411.2:c.1818A>T, XM_006719411.1:c.1818A>T, XM_006719407.4:c.1857A>T, XM_006719407.3:c.1857A>T, XM_006719407.2:c.1857A>T, XM_006719407.1:c.1857A>T, XM_006719409.4:c.1818A>T, XM_006719409.3:c.1818A>T, XM_006719409.2:c.1818A>T, XM_006719409.1:c.1818A>T, XM_017019318.3:c.1836A>T, XM_017019318.2:c.1836A>T, XM_017019318.1:c.1836A>T, XM_017019315.3:c.1836A>T, XM_017019315.2:c.1836A>T, XM_017019315.1:c.1836A>T, XM_017019319.3:c.1761A>T, XM_017019319.2:c.1761A>T, XM_017019319.1:c.1761A>T, XM_017019321.3:c.1761A>T, XM_017019317.2:c.1818A>T, XM_017019317.1:c.1818A>T, XM_017019320.2:c.1740A>T, XM_017019320.1:c.1740A>T, XM_017019316.2:c.1893A>T, XM_017019316.1:c.1893A>T, XM_017019322.2:c.1683A>T, XM_047428875.1:c.1740A>T, XR_007063422.1:n.337T>A

    2.

    rs1489356695 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      12:101651255 (GRCh38)
      12:102045033 (GRCh37)
      Canonical SPDI:
      NC_000012.12:101651254:C:T
      Gene:
      MYBPC1 (Varview), LOC105369937 (Varview)
      Functional Consequence:
      coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000012.12:g.101651255C>T, NC_000012.11:g.102045033C>T, NG_031912.1:g.61325C>T, NM_002465.4:c.1388C>T, NM_002465.3:c.1388C>T, NM_206819.4:c.1388C>T, NM_206819.3:c.1388C>T, NM_206819.2:c.1388C>T, NM_206820.4:c.1313C>T, NM_206820.3:c.1313C>T, NM_206820.2:c.1313C>T, NM_206821.4:c.1313C>T, NM_206821.3:c.1313C>T, NM_206821.2:c.1313C>T, NM_001254718.3:c.1313C>T, NM_001254718.2:c.1313C>T, NM_001254718.1:c.1313C>T, NM_001254719.3:c.1313C>T, NM_001254719.2:c.1313C>T, NM_001254719.1:c.1313C>T, NM_001254720.3:c.1277C>T, NM_001254720.2:c.1277C>T, NM_001254720.1:c.1277C>T, NM_001254721.3:c.1256C>T, NM_001254721.2:c.1256C>T, NM_001254721.1:c.1256C>T, NM_001254722.3:c.1235C>T, NM_001254722.2:c.1235C>T, NM_001254722.1:c.1235C>T, NM_001254723.3:c.1274C>T, NM_001254723.2:c.1274C>T, NM_001254723.1:c.1274C>T, NM_001404675.1:c.1388C>T, NM_001404678.1:c.1256C>T, NM_001404679.1:c.1178C>T, NM_001404680.1:c.1235C>T, NM_001404676.1:c.1256C>T, NM_001404681.1:c.1178C>T, NM_001404677.1:c.1178C>T, XM_006719406.5:c.1388C>T, XM_006719406.4:c.1388C>T, XM_006719406.3:c.1388C>T, XM_006719406.2:c.1388C>T, XM_006719406.1:c.1388C>T, XM_006719410.5:c.1388C>T, XM_006719410.4:c.1388C>T, XM_006719410.3:c.1388C>T, XM_006719410.2:c.1388C>T, XM_006719410.1:c.1388C>T, XM_006719405.5:c.1388C>T, XM_006719405.4:c.1388C>T, XM_006719405.3:c.1388C>T, XM_006719405.2:c.1388C>T, XM_006719405.1:c.1388C>T, XM_006719408.5:c.1388C>T, XM_005268876.5:c.1352C>T, XM_005268876.4:c.1352C>T, XM_005268876.3:c.1352C>T, XM_005268876.2:c.1352C>T, XM_005268876.1:c.1352C>T, XM_006719411.4:c.1313C>T, XM_006719411.3:c.1313C>T, XM_006719411.2:c.1313C>T, XM_006719411.1:c.1313C>T, XM_006719407.4:c.1352C>T, XM_006719407.3:c.1352C>T, XM_006719407.2:c.1352C>T, XM_006719407.1:c.1352C>T, XM_006719409.4:c.1313C>T, XM_006719409.3:c.1313C>T, XM_006719409.2:c.1313C>T, XM_006719409.1:c.1313C>T, XM_017019318.3:c.1331C>T, XM_017019318.2:c.1331C>T, XM_017019318.1:c.1331C>T, XM_017019315.3:c.1331C>T, XM_017019315.2:c.1331C>T, XM_017019315.1:c.1331C>T, XM_017019319.3:c.1256C>T, XM_017019319.2:c.1256C>T, XM_017019319.1:c.1256C>T, XM_017019321.3:c.1256C>T, XM_017019317.2:c.1313C>T, XM_017019317.1:c.1313C>T, XM_017019320.2:c.1235C>T, XM_017019320.1:c.1235C>T, XM_017019316.2:c.1388C>T, XM_017019316.1:c.1388C>T, XM_017019322.2:c.1178C>T, XM_047428875.1:c.1235C>T, NP_002456.2:p.Pro463Leu, NP_996555.1:p.Pro463Leu, NP_996556.1:p.Pro438Leu, NP_996557.1:p.Pro438Leu, NP_001241647.1:p.Pro438Leu, NP_001241648.1:p.Pro438Leu, NP_001241649.1:p.Pro426Leu, NP_001241650.1:p.Pro419Leu, NP_001241651.1:p.Pro412Leu, NP_001241652.1:p.Pro425Leu, XP_006719469.1:p.Pro463Leu, XP_006719473.1:p.Pro463Leu, XP_006719468.1:p.Pro463Leu, XP_006719471.1:p.Pro463Leu, XP_005268933.1:p.Pro451Leu, XP_006719474.1:p.Pro438Leu, XP_006719470.1:p.Pro451Leu, XP_006719472.1:p.Pro438Leu, XP_016874807.1:p.Pro444Leu, XP_016874804.1:p.Pro444Leu, XP_016874808.1:p.Pro419Leu, XP_016874810.1:p.Pro419Leu, XP_016874806.1:p.Pro438Leu, XP_016874809.1:p.Pro412Leu, XP_016874805.1:p.Pro463Leu, XP_016874811.1:p.Pro393Leu, XP_047284831.1:p.Pro412Leu

      3.

      rs1487491561 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        12:101661262 (GRCh38)
        12:102055040 (GRCh37)
        Canonical SPDI:
        NC_000012.12:101661261:G:A
        Gene:
        MYBPC1 (Varview), LOC124902996 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.101661262G>A, NC_000012.11:g.102055040G>A, NG_031912.1:g.71332G>A, NM_002465.4:c.2032G>A, NM_002465.3:c.2032G>A, NM_206819.4:c.2032G>A, NM_206819.3:c.2032G>A, NM_206819.2:c.2032G>A, NM_206820.4:c.1957G>A, NM_206820.3:c.1957G>A, NM_206820.2:c.1957G>A, NM_206821.4:c.1957G>A, NM_206821.3:c.1957G>A, NM_206821.2:c.1957G>A, NM_001254718.3:c.1957G>A, NM_001254718.2:c.1957G>A, NM_001254718.1:c.1957G>A, NM_001254719.3:c.1957G>A, NM_001254719.2:c.1957G>A, NM_001254719.1:c.1957G>A, NM_001254720.3:c.1921G>A, NM_001254720.2:c.1921G>A, NM_001254720.1:c.1921G>A, NM_001254721.3:c.1900G>A, NM_001254721.2:c.1900G>A, NM_001254721.1:c.1900G>A, NM_001254722.3:c.1879G>A, NM_001254722.2:c.1879G>A, NM_001254722.1:c.1879G>A, NM_001254723.3:c.1918G>A, NM_001254723.2:c.1918G>A, NM_001254723.1:c.1918G>A, NM_001404675.1:c.2032G>A, NM_001404678.1:c.1900G>A, NM_001404679.1:c.1822G>A, NM_001404680.1:c.1879G>A, NM_001404676.1:c.1900G>A, NM_001404681.1:c.1822G>A, NM_001404677.1:c.1822G>A, XM_006719406.5:c.2032G>A, XM_006719406.4:c.2032G>A, XM_006719406.3:c.2032G>A, XM_006719406.2:c.2032G>A, XM_006719406.1:c.2032G>A, XM_006719410.5:c.2032G>A, XM_006719410.4:c.2032G>A, XM_006719410.3:c.2032G>A, XM_006719410.2:c.2032G>A, XM_006719410.1:c.2032G>A, XM_006719405.5:c.2032G>A, XM_006719405.4:c.2032G>A, XM_006719405.3:c.2032G>A, XM_006719405.2:c.2032G>A, XM_006719405.1:c.2032G>A, XM_006719408.5:c.2032G>A, XM_005268876.5:c.1996G>A, XM_005268876.4:c.1996G>A, XM_005268876.3:c.1996G>A, XM_005268876.2:c.1996G>A, XM_005268876.1:c.1996G>A, XM_006719411.4:c.1957G>A, XM_006719411.3:c.1957G>A, XM_006719411.2:c.1957G>A, XM_006719411.1:c.1957G>A, XM_006719407.4:c.1996G>A, XM_006719407.3:c.1996G>A, XM_006719407.2:c.1996G>A, XM_006719407.1:c.1996G>A, XM_006719409.4:c.1957G>A, XM_006719409.3:c.1957G>A, XM_006719409.2:c.1957G>A, XM_006719409.1:c.1957G>A, XM_017019318.3:c.1975G>A, XM_017019318.2:c.1975G>A, XM_017019318.1:c.1975G>A, XM_017019315.3:c.1975G>A, XM_017019315.2:c.1975G>A, XM_017019315.1:c.1975G>A, XM_017019319.3:c.1900G>A, XM_017019319.2:c.1900G>A, XM_017019319.1:c.1900G>A, XM_017019321.3:c.1900G>A, XM_017019317.2:c.1957G>A, XM_017019317.1:c.1957G>A, XM_017019320.2:c.1879G>A, XM_017019320.1:c.1879G>A, XM_017019316.2:c.2032G>A, XM_017019316.1:c.2032G>A, XM_017019322.2:c.1822G>A, XM_047428875.1:c.1879G>A, NP_002456.2:p.Gly678Arg, NP_996555.1:p.Gly678Arg, NP_996556.1:p.Gly653Arg, NP_996557.1:p.Gly653Arg, NP_001241647.1:p.Gly653Arg, NP_001241648.1:p.Gly653Arg, NP_001241649.1:p.Gly641Arg, NP_001241650.1:p.Gly634Arg, NP_001241651.1:p.Gly627Arg, NP_001241652.1:p.Gly640Arg, XP_006719469.1:p.Gly678Arg, XP_006719473.1:p.Gly678Arg, XP_006719468.1:p.Gly678Arg, XP_006719471.1:p.Gly678Arg, XP_005268933.1:p.Gly666Arg, XP_006719474.1:p.Gly653Arg, XP_006719470.1:p.Gly666Arg, XP_006719472.1:p.Gly653Arg, XP_016874807.1:p.Gly659Arg, XP_016874804.1:p.Gly659Arg, XP_016874808.1:p.Gly634Arg, XP_016874810.1:p.Gly634Arg, XP_016874806.1:p.Gly653Arg, XP_016874809.1:p.Gly627Arg, XP_016874805.1:p.Gly678Arg, XP_016874811.1:p.Gly608Arg, XP_047284831.1:p.Gly627Arg

        4.

        rs1486843511 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>T [Show Flanks]
          Chromosome:
          12:101663517 (GRCh38)
          12:102057295 (GRCh37)
          Canonical SPDI:
          NC_000012.12:101663516:A:T
          Gene:
          MYBPC1 (Varview), LOC124902996 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000012.12:g.101663517A>T, NC_000012.11:g.102057295A>T, NG_031912.1:g.73587A>T, NM_002465.4:c.2313A>T, NM_002465.3:c.2313A>T, NM_206819.4:c.2313A>T, NM_206819.3:c.2313A>T, NM_206819.2:c.2313A>T, NM_206820.4:c.2238A>T, NM_206820.3:c.2238A>T, NM_206820.2:c.2238A>T, NM_206821.4:c.2238A>T, NM_206821.3:c.2238A>T, NM_206821.2:c.2238A>T, NM_001254718.3:c.2238A>T, NM_001254718.2:c.2238A>T, NM_001254718.1:c.2238A>T, NM_001254719.3:c.2238A>T, NM_001254719.2:c.2238A>T, NM_001254719.1:c.2238A>T, NM_001254720.3:c.2202A>T, NM_001254720.2:c.2202A>T, NM_001254720.1:c.2202A>T, NM_001254721.3:c.2181A>T, NM_001254721.2:c.2181A>T, NM_001254721.1:c.2181A>T, NM_001254722.3:c.2160A>T, NM_001254722.2:c.2160A>T, NM_001254722.1:c.2160A>T, NM_001254723.3:c.2199A>T, NM_001254723.2:c.2199A>T, NM_001254723.1:c.2199A>T, NM_001404675.1:c.2313A>T, NM_001404678.1:c.2181A>T, NM_001404679.1:c.2103A>T, NM_001404680.1:c.2160A>T, NM_001404676.1:c.2181A>T, NM_001404681.1:c.2103A>T, NM_001404677.1:c.2103A>T, XM_006719406.5:c.2313A>T, XM_006719406.4:c.2313A>T, XM_006719406.3:c.2313A>T, XM_006719406.2:c.2313A>T, XM_006719406.1:c.2313A>T, XM_006719410.5:c.2313A>T, XM_006719410.4:c.2313A>T, XM_006719410.3:c.2313A>T, XM_006719410.2:c.2313A>T, XM_006719410.1:c.2313A>T, XM_006719405.5:c.2313A>T, XM_006719405.4:c.2313A>T, XM_006719405.3:c.2313A>T, XM_006719405.2:c.2313A>T, XM_006719405.1:c.2313A>T, XM_006719408.5:c.2313A>T, XM_005268876.5:c.2277A>T, XM_005268876.4:c.2277A>T, XM_005268876.3:c.2277A>T, XM_005268876.2:c.2277A>T, XM_005268876.1:c.2277A>T, XM_006719411.4:c.2238A>T, XM_006719411.3:c.2238A>T, XM_006719411.2:c.2238A>T, XM_006719411.1:c.2238A>T, XM_006719407.4:c.2277A>T, XM_006719407.3:c.2277A>T, XM_006719407.2:c.2277A>T, XM_006719407.1:c.2277A>T, XM_006719409.4:c.2238A>T, XM_006719409.3:c.2238A>T, XM_006719409.2:c.2238A>T, XM_006719409.1:c.2238A>T, XM_017019318.3:c.2256A>T, XM_017019318.2:c.2256A>T, XM_017019318.1:c.2256A>T, XM_017019315.3:c.2256A>T, XM_017019315.2:c.2256A>T, XM_017019315.1:c.2256A>T, XM_017019319.3:c.2181A>T, XM_017019319.2:c.2181A>T, XM_017019319.1:c.2181A>T, XM_017019321.3:c.2181A>T, XM_017019317.2:c.2238A>T, XM_017019317.1:c.2238A>T, XM_017019320.2:c.2160A>T, XM_017019320.1:c.2160A>T, XM_017019316.2:c.2313A>T, XM_017019316.1:c.2313A>T, XM_017019322.2:c.2103A>T, XM_047428875.1:c.2160A>T

          5.

          rs1483942168 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:101662468 (GRCh38)
            12:102056246 (GRCh37)
            Canonical SPDI:
            NC_000012.12:101662467:T:C
            Gene:
            MYBPC1 (Varview), LOC124902996 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000014/2 (GnomAD)
            C=0.000015/4 (TOPMED)
            HGVS:
            NC_000012.12:g.101662468T>C, NC_000012.11:g.102056246T>C, NG_031912.1:g.72538T>C, NM_002465.4:c.2143T>C, NM_002465.3:c.2143T>C, NM_206819.4:c.2143T>C, NM_206819.3:c.2143T>C, NM_206819.2:c.2143T>C, NM_206820.4:c.2068T>C, NM_206820.3:c.2068T>C, NM_206820.2:c.2068T>C, NM_206821.4:c.2068T>C, NM_206821.3:c.2068T>C, NM_206821.2:c.2068T>C, NM_001254718.3:c.2068T>C, NM_001254718.2:c.2068T>C, NM_001254718.1:c.2068T>C, NM_001254719.3:c.2068T>C, NM_001254719.2:c.2068T>C, NM_001254719.1:c.2068T>C, NM_001254720.3:c.2032T>C, NM_001254720.2:c.2032T>C, NM_001254720.1:c.2032T>C, NM_001254721.3:c.2011T>C, NM_001254721.2:c.2011T>C, NM_001254721.1:c.2011T>C, NM_001254722.3:c.1990T>C, NM_001254722.2:c.1990T>C, NM_001254722.1:c.1990T>C, NM_001254723.3:c.2029T>C, NM_001254723.2:c.2029T>C, NM_001254723.1:c.2029T>C, NM_001404675.1:c.2143T>C, NM_001404678.1:c.2011T>C, NM_001404679.1:c.1933T>C, NM_001404680.1:c.1990T>C, NM_001404676.1:c.2011T>C, NM_001404681.1:c.1933T>C, NM_001404677.1:c.1933T>C, XM_006719406.5:c.2143T>C, XM_006719406.4:c.2143T>C, XM_006719406.3:c.2143T>C, XM_006719406.2:c.2143T>C, XM_006719406.1:c.2143T>C, XM_006719410.5:c.2143T>C, XM_006719410.4:c.2143T>C, XM_006719410.3:c.2143T>C, XM_006719410.2:c.2143T>C, XM_006719410.1:c.2143T>C, XM_006719405.5:c.2143T>C, XM_006719405.4:c.2143T>C, XM_006719405.3:c.2143T>C, XM_006719405.2:c.2143T>C, XM_006719405.1:c.2143T>C, XM_006719408.5:c.2143T>C, XM_005268876.5:c.2107T>C, XM_005268876.4:c.2107T>C, XM_005268876.3:c.2107T>C, XM_005268876.2:c.2107T>C, XM_005268876.1:c.2107T>C, XM_006719411.4:c.2068T>C, XM_006719411.3:c.2068T>C, XM_006719411.2:c.2068T>C, XM_006719411.1:c.2068T>C, XM_006719407.4:c.2107T>C, XM_006719407.3:c.2107T>C, XM_006719407.2:c.2107T>C, XM_006719407.1:c.2107T>C, XM_006719409.4:c.2068T>C, XM_006719409.3:c.2068T>C, XM_006719409.2:c.2068T>C, XM_006719409.1:c.2068T>C, XM_017019318.3:c.2086T>C, XM_017019318.2:c.2086T>C, XM_017019318.1:c.2086T>C, XM_017019315.3:c.2086T>C, XM_017019315.2:c.2086T>C, XM_017019315.1:c.2086T>C, XM_017019319.3:c.2011T>C, XM_017019319.2:c.2011T>C, XM_017019319.1:c.2011T>C, XM_017019321.3:c.2011T>C, XM_017019317.2:c.2068T>C, XM_017019317.1:c.2068T>C, XM_017019320.2:c.1990T>C, XM_017019320.1:c.1990T>C, XM_017019316.2:c.2143T>C, XM_017019316.1:c.2143T>C, XM_017019322.2:c.1933T>C, XM_047428875.1:c.1990T>C, NP_002456.2:p.Tyr715His, NP_996555.1:p.Tyr715His, NP_996556.1:p.Tyr690His, NP_996557.1:p.Tyr690His, NP_001241647.1:p.Tyr690His, NP_001241648.1:p.Tyr690His, NP_001241649.1:p.Tyr678His, NP_001241650.1:p.Tyr671His, NP_001241651.1:p.Tyr664His, NP_001241652.1:p.Tyr677His, XP_006719469.1:p.Tyr715His, XP_006719473.1:p.Tyr715His, XP_006719468.1:p.Tyr715His, XP_006719471.1:p.Tyr715His, XP_005268933.1:p.Tyr703His, XP_006719474.1:p.Tyr690His, XP_006719470.1:p.Tyr703His, XP_006719472.1:p.Tyr690His, XP_016874807.1:p.Tyr696His, XP_016874804.1:p.Tyr696His, XP_016874808.1:p.Tyr671His, XP_016874810.1:p.Tyr671His, XP_016874806.1:p.Tyr690His, XP_016874809.1:p.Tyr664His, XP_016874805.1:p.Tyr715His, XP_016874811.1:p.Tyr645His, XP_047284831.1:p.Tyr664His

            6.

            rs1482178435 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              12:101629508 (GRCh38)
              12:102023286 (GRCh37)
              Canonical SPDI:
              NC_000012.12:101629507:T:C
              Gene:
              MYBPC1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000012.12:g.101629508T>C, NC_000012.11:g.102023286T>C, NG_031912.1:g.39578T>C, NM_002465.4:c.253T>C, NM_002465.3:c.253T>C, NM_206819.4:c.253T>C, NM_206819.3:c.253T>C, NM_206819.2:c.253T>C, NM_206820.4:c.178T>C, NM_206820.3:c.178T>C, NM_206820.2:c.178T>C, NM_206821.4:c.178T>C, NM_206821.3:c.178T>C, NM_206821.2:c.178T>C, NM_001254718.3:c.178T>C, NM_001254718.2:c.178T>C, NM_001254718.1:c.178T>C, NM_001254719.3:c.178T>C, NM_001254719.2:c.178T>C, NM_001254719.1:c.178T>C, NM_001254720.3:c.142T>C, NM_001254720.2:c.142T>C, NM_001254720.1:c.142T>C, NM_001254721.3:c.178T>C, NM_001254721.2:c.178T>C, NM_001254721.1:c.178T>C, NM_001254722.3:c.100T>C, NM_001254722.2:c.100T>C, NM_001254722.1:c.100T>C, NM_001254723.3:c.139T>C, NM_001254723.2:c.139T>C, NM_001254723.1:c.139T>C, NM_001404675.1:c.253T>C, NM_001404678.1:c.178T>C, NM_001404679.1:c.100T>C, NM_001404680.1:c.100T>C, NM_001404676.1:c.178T>C, NM_001404681.1:c.100T>C, NM_001404677.1:c.100T>C, XM_006719406.5:c.253T>C, XM_006719406.4:c.253T>C, XM_006719406.3:c.253T>C, XM_006719406.2:c.253T>C, XM_006719406.1:c.253T>C, XM_006719410.5:c.253T>C, XM_006719410.4:c.253T>C, XM_006719410.3:c.253T>C, XM_006719410.2:c.253T>C, XM_006719410.1:c.253T>C, XM_006719405.5:c.253T>C, XM_006719405.4:c.253T>C, XM_006719405.3:c.253T>C, XM_006719405.2:c.253T>C, XM_006719405.1:c.253T>C, XM_006719408.5:c.253T>C, XM_005268876.5:c.217T>C, XM_005268876.4:c.217T>C, XM_005268876.3:c.217T>C, XM_005268876.2:c.217T>C, XM_005268876.1:c.217T>C, XM_006719411.4:c.178T>C, XM_006719411.3:c.178T>C, XM_006719411.2:c.178T>C, XM_006719411.1:c.178T>C, XM_006719407.4:c.217T>C, XM_006719407.3:c.217T>C, XM_006719407.2:c.217T>C, XM_006719407.1:c.217T>C, XM_006719409.4:c.178T>C, XM_006719409.3:c.178T>C, XM_006719409.2:c.178T>C, XM_006719409.1:c.178T>C, XM_017019318.3:c.253T>C, XM_017019318.2:c.253T>C, XM_017019318.1:c.253T>C, XM_017019315.3:c.253T>C, XM_017019315.2:c.253T>C, XM_017019315.1:c.253T>C, XM_017019319.3:c.178T>C, XM_017019319.2:c.178T>C, XM_017019319.1:c.178T>C, XM_017019321.3:c.178T>C, XM_017019317.2:c.178T>C, XM_017019317.1:c.178T>C, XM_017019320.2:c.100T>C, XM_017019320.1:c.100T>C, XM_017019316.2:c.253T>C, XM_017019316.1:c.253T>C, XM_017019322.2:c.100T>C, XM_047428875.1:c.100T>C, NP_002456.2:p.Phe85Leu, NP_996555.1:p.Phe85Leu, NP_996556.1:p.Phe60Leu, NP_996557.1:p.Phe60Leu, NP_001241647.1:p.Phe60Leu, NP_001241648.1:p.Phe60Leu, NP_001241649.1:p.Phe48Leu, NP_001241650.1:p.Phe60Leu, NP_001241651.1:p.Phe34Leu, NP_001241652.1:p.Phe47Leu, XP_006719469.1:p.Phe85Leu, XP_006719473.1:p.Phe85Leu, XP_006719468.1:p.Phe85Leu, XP_006719471.1:p.Phe85Leu, XP_005268933.1:p.Phe73Leu, XP_006719474.1:p.Phe60Leu, XP_006719470.1:p.Phe73Leu, XP_006719472.1:p.Phe60Leu, XP_016874807.1:p.Phe85Leu, XP_016874804.1:p.Phe85Leu, XP_016874808.1:p.Phe60Leu, XP_016874810.1:p.Phe60Leu, XP_016874806.1:p.Phe60Leu, XP_016874809.1:p.Phe34Leu, XP_016874805.1:p.Phe85Leu, XP_016874811.1:p.Phe34Leu, XP_047284831.1:p.Phe34Leu

              7.

              rs1481287405 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                12:101644770 (GRCh38)
                12:102038548 (GRCh37)
                Canonical SPDI:
                NC_000012.12:101644769:T:C
                Gene:
                MYBPC1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.101644770T>C, NC_000012.11:g.102038548T>C, NG_031912.1:g.54840T>C, NM_002465.4:c.939T>C, NM_002465.3:c.939T>C, NM_206819.4:c.939T>C, NM_206819.3:c.939T>C, NM_206819.2:c.939T>C, NM_206820.4:c.864T>C, NM_206820.3:c.864T>C, NM_206820.2:c.864T>C, NM_206821.4:c.864T>C, NM_206821.3:c.864T>C, NM_206821.2:c.864T>C, NM_001254718.3:c.864T>C, NM_001254718.2:c.864T>C, NM_001254718.1:c.864T>C, NM_001254719.3:c.864T>C, NM_001254719.2:c.864T>C, NM_001254719.1:c.864T>C, NM_001254720.3:c.828T>C, NM_001254720.2:c.828T>C, NM_001254720.1:c.828T>C, NM_001254721.3:c.807T>C, NM_001254721.2:c.807T>C, NM_001254721.1:c.807T>C, NM_001254722.3:c.786T>C, NM_001254722.2:c.786T>C, NM_001254722.1:c.786T>C, NM_001254723.3:c.825T>C, NM_001254723.2:c.825T>C, NM_001254723.1:c.825T>C, NM_001404675.1:c.939T>C, NM_001404678.1:c.807T>C, NM_001404679.1:c.729T>C, NM_001404680.1:c.786T>C, NM_001404676.1:c.807T>C, NM_001404681.1:c.729T>C, NM_001404677.1:c.729T>C, XM_006719406.5:c.939T>C, XM_006719406.4:c.939T>C, XM_006719406.3:c.939T>C, XM_006719406.2:c.939T>C, XM_006719406.1:c.939T>C, XM_006719410.5:c.939T>C, XM_006719410.4:c.939T>C, XM_006719410.3:c.939T>C, XM_006719410.2:c.939T>C, XM_006719410.1:c.939T>C, XM_006719405.5:c.939T>C, XM_006719405.4:c.939T>C, XM_006719405.3:c.939T>C, XM_006719405.2:c.939T>C, XM_006719405.1:c.939T>C, XM_006719408.5:c.939T>C, XM_005268876.5:c.903T>C, XM_005268876.4:c.903T>C, XM_005268876.3:c.903T>C, XM_005268876.2:c.903T>C, XM_005268876.1:c.903T>C, XM_006719411.4:c.864T>C, XM_006719411.3:c.864T>C, XM_006719411.2:c.864T>C, XM_006719411.1:c.864T>C, XM_006719407.4:c.903T>C, XM_006719407.3:c.903T>C, XM_006719407.2:c.903T>C, XM_006719407.1:c.903T>C, XM_006719409.4:c.864T>C, XM_006719409.3:c.864T>C, XM_006719409.2:c.864T>C, XM_006719409.1:c.864T>C, XM_017019318.3:c.882T>C, XM_017019318.2:c.882T>C, XM_017019318.1:c.882T>C, XM_017019315.3:c.882T>C, XM_017019315.2:c.882T>C, XM_017019315.1:c.882T>C, XM_017019319.3:c.807T>C, XM_017019319.2:c.807T>C, XM_017019319.1:c.807T>C, XM_017019321.3:c.807T>C, XM_017019317.2:c.864T>C, XM_017019317.1:c.864T>C, XM_017019320.2:c.786T>C, XM_017019320.1:c.786T>C, XM_017019316.2:c.939T>C, XM_017019316.1:c.939T>C, XM_017019322.2:c.729T>C, XM_047428875.1:c.786T>C

                8.

                rs1480941516 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:101648101 (GRCh38)
                  12:102041879 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:101648100:A:G
                  Gene:
                  MYBPC1 (Varview), LOC105369937 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000071/1 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000011/3 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000012.12:g.101648101A>G, NC_000012.11:g.102041879A>G, NG_031912.1:g.58171A>G, NM_002465.4:c.1147A>G, NM_002465.3:c.1147A>G, NM_206819.4:c.1147A>G, NM_206819.3:c.1147A>G, NM_206819.2:c.1147A>G, NM_206820.4:c.1072A>G, NM_206820.3:c.1072A>G, NM_206820.2:c.1072A>G, NM_206821.4:c.1072A>G, NM_206821.3:c.1072A>G, NM_206821.2:c.1072A>G, NM_001254718.3:c.1072A>G, NM_001254718.2:c.1072A>G, NM_001254718.1:c.1072A>G, NM_001254719.3:c.1072A>G, NM_001254719.2:c.1072A>G, NM_001254719.1:c.1072A>G, NM_001254720.3:c.1036A>G, NM_001254720.2:c.1036A>G, NM_001254720.1:c.1036A>G, NM_001254721.3:c.1015A>G, NM_001254721.2:c.1015A>G, NM_001254721.1:c.1015A>G, NM_001254722.3:c.994A>G, NM_001254722.2:c.994A>G, NM_001254722.1:c.994A>G, NM_001254723.3:c.1033A>G, NM_001254723.2:c.1033A>G, NM_001254723.1:c.1033A>G, NM_001404675.1:c.1147A>G, NM_001404678.1:c.1015A>G, NM_001404679.1:c.937A>G, NM_001404680.1:c.994A>G, NM_001404676.1:c.1015A>G, NM_001404681.1:c.937A>G, NM_001404677.1:c.937A>G, XM_006719406.5:c.1147A>G, XM_006719406.4:c.1147A>G, XM_006719406.3:c.1147A>G, XM_006719406.2:c.1147A>G, XM_006719406.1:c.1147A>G, XM_006719410.5:c.1147A>G, XM_006719410.4:c.1147A>G, XM_006719410.3:c.1147A>G, XM_006719410.2:c.1147A>G, XM_006719410.1:c.1147A>G, XM_006719405.5:c.1147A>G, XM_006719405.4:c.1147A>G, XM_006719405.3:c.1147A>G, XM_006719405.2:c.1147A>G, XM_006719405.1:c.1147A>G, XM_006719408.5:c.1147A>G, XM_005268876.5:c.1111A>G, XM_005268876.4:c.1111A>G, XM_005268876.3:c.1111A>G, XM_005268876.2:c.1111A>G, XM_005268876.1:c.1111A>G, XM_006719411.4:c.1072A>G, XM_006719411.3:c.1072A>G, XM_006719411.2:c.1072A>G, XM_006719411.1:c.1072A>G, XM_006719407.4:c.1111A>G, XM_006719407.3:c.1111A>G, XM_006719407.2:c.1111A>G, XM_006719407.1:c.1111A>G, XM_006719409.4:c.1072A>G, XM_006719409.3:c.1072A>G, XM_006719409.2:c.1072A>G, XM_006719409.1:c.1072A>G, XM_017019318.3:c.1090A>G, XM_017019318.2:c.1090A>G, XM_017019318.1:c.1090A>G, XM_017019315.3:c.1090A>G, XM_017019315.2:c.1090A>G, XM_017019315.1:c.1090A>G, XM_017019319.3:c.1015A>G, XM_017019319.2:c.1015A>G, XM_017019319.1:c.1015A>G, XM_017019321.3:c.1015A>G, XM_017019317.2:c.1072A>G, XM_017019317.1:c.1072A>G, XM_017019320.2:c.994A>G, XM_017019320.1:c.994A>G, XM_017019316.2:c.1147A>G, XM_017019316.1:c.1147A>G, XM_017019322.2:c.937A>G, XM_047428875.1:c.994A>G, NP_002456.2:p.Arg383Gly, NP_996555.1:p.Arg383Gly, NP_996556.1:p.Arg358Gly, NP_996557.1:p.Arg358Gly, NP_001241647.1:p.Arg358Gly, NP_001241648.1:p.Arg358Gly, NP_001241649.1:p.Arg346Gly, NP_001241650.1:p.Arg339Gly, NP_001241651.1:p.Arg332Gly, NP_001241652.1:p.Arg345Gly, XP_006719469.1:p.Arg383Gly, XP_006719473.1:p.Arg383Gly, XP_006719468.1:p.Arg383Gly, XP_006719471.1:p.Arg383Gly, XP_005268933.1:p.Arg371Gly, XP_006719474.1:p.Arg358Gly, XP_006719470.1:p.Arg371Gly, XP_006719472.1:p.Arg358Gly, XP_016874807.1:p.Arg364Gly, XP_016874804.1:p.Arg364Gly, XP_016874808.1:p.Arg339Gly, XP_016874810.1:p.Arg339Gly, XP_016874806.1:p.Arg358Gly, XP_016874809.1:p.Arg332Gly, XP_016874805.1:p.Arg383Gly, XP_016874811.1:p.Arg313Gly, XP_047284831.1:p.Arg332Gly

                  9.

                  rs1480296981 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    12:101652746 (GRCh38)
                    12:102046524 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:101652745:C:A,NC_000012.12:101652745:C:G
                    Gene:
                    MYBPC1 (Varview), LOC105369937 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000012.12:g.101652746C>A, NC_000012.12:g.101652746C>G, NC_000012.11:g.102046524C>A, NC_000012.11:g.102046524C>G, NG_031912.1:g.62816C>A, NG_031912.1:g.62816C>G, NM_002465.4:c.1595C>A, NM_002465.4:c.1595C>G, NM_002465.3:c.1595C>A, NM_002465.3:c.1595C>G, NM_206819.4:c.1595C>A, NM_206819.4:c.1595C>G, NM_206819.3:c.1595C>A, NM_206819.3:c.1595C>G, NM_206819.2:c.1595C>A, NM_206819.2:c.1595C>G, NM_206820.4:c.1520C>A, NM_206820.4:c.1520C>G, NM_206820.3:c.1520C>A, NM_206820.3:c.1520C>G, NM_206820.2:c.1520C>A, NM_206820.2:c.1520C>G, NM_206821.4:c.1520C>A, NM_206821.4:c.1520C>G, NM_206821.3:c.1520C>A, NM_206821.3:c.1520C>G, NM_206821.2:c.1520C>A, NM_206821.2:c.1520C>G, NM_001254718.3:c.1520C>A, NM_001254718.3:c.1520C>G, NM_001254718.2:c.1520C>A, NM_001254718.2:c.1520C>G, NM_001254718.1:c.1520C>A, NM_001254718.1:c.1520C>G, NM_001254719.3:c.1520C>A, NM_001254719.3:c.1520C>G, NM_001254719.2:c.1520C>A, NM_001254719.2:c.1520C>G, NM_001254719.1:c.1520C>A, NM_001254719.1:c.1520C>G, NM_001254720.3:c.1484C>A, NM_001254720.3:c.1484C>G, NM_001254720.2:c.1484C>A, NM_001254720.2:c.1484C>G, NM_001254720.1:c.1484C>A, NM_001254720.1:c.1484C>G, NM_001254721.3:c.1463C>A, NM_001254721.3:c.1463C>G, NM_001254721.2:c.1463C>A, NM_001254721.2:c.1463C>G, NM_001254721.1:c.1463C>A, NM_001254721.1:c.1463C>G, NM_001254722.3:c.1442C>A, NM_001254722.3:c.1442C>G, NM_001254722.2:c.1442C>A, NM_001254722.2:c.1442C>G, NM_001254722.1:c.1442C>A, NM_001254722.1:c.1442C>G, NM_001254723.3:c.1481C>A, NM_001254723.3:c.1481C>G, NM_001254723.2:c.1481C>A, NM_001254723.2:c.1481C>G, NM_001254723.1:c.1481C>A, NM_001254723.1:c.1481C>G, NM_001404675.1:c.1595C>A, NM_001404675.1:c.1595C>G, NM_001404678.1:c.1463C>A, NM_001404678.1:c.1463C>G, NM_001404679.1:c.1385C>A, NM_001404679.1:c.1385C>G, NM_001404680.1:c.1442C>A, NM_001404680.1:c.1442C>G, NM_001404676.1:c.1463C>A, NM_001404676.1:c.1463C>G, NM_001404681.1:c.1385C>A, NM_001404681.1:c.1385C>G, NM_001404677.1:c.1385C>A, NM_001404677.1:c.1385C>G, XM_006719406.5:c.1595C>A, XM_006719406.5:c.1595C>G, XM_006719406.4:c.1595C>A, XM_006719406.4:c.1595C>G, XM_006719406.3:c.1595C>A, XM_006719406.3:c.1595C>G, XM_006719406.2:c.1595C>A, XM_006719406.2:c.1595C>G, XM_006719406.1:c.1595C>A, XM_006719406.1:c.1595C>G, XM_006719410.5:c.1595C>A, XM_006719410.5:c.1595C>G, XM_006719410.4:c.1595C>A, XM_006719410.4:c.1595C>G, XM_006719410.3:c.1595C>A, XM_006719410.3:c.1595C>G, XM_006719410.2:c.1595C>A, XM_006719410.2:c.1595C>G, XM_006719410.1:c.1595C>A, XM_006719410.1:c.1595C>G, XM_006719405.5:c.1595C>A, XM_006719405.5:c.1595C>G, XM_006719405.4:c.1595C>A, XM_006719405.4:c.1595C>G, XM_006719405.3:c.1595C>A, XM_006719405.3:c.1595C>G, XM_006719405.2:c.1595C>A, XM_006719405.2:c.1595C>G, XM_006719405.1:c.1595C>A, XM_006719405.1:c.1595C>G, XM_006719408.5:c.1595C>A, XM_006719408.5:c.1595C>G, XM_005268876.5:c.1559C>A, XM_005268876.5:c.1559C>G, XM_005268876.4:c.1559C>A, XM_005268876.4:c.1559C>G, XM_005268876.3:c.1559C>A, XM_005268876.3:c.1559C>G, XM_005268876.2:c.1559C>A, XM_005268876.2:c.1559C>G, XM_005268876.1:c.1559C>A, XM_005268876.1:c.1559C>G, XM_006719411.4:c.1520C>A, XM_006719411.4:c.1520C>G, XM_006719411.3:c.1520C>A, XM_006719411.3:c.1520C>G, XM_006719411.2:c.1520C>A, XM_006719411.2:c.1520C>G, XM_006719411.1:c.1520C>A, XM_006719411.1:c.1520C>G, XM_006719407.4:c.1559C>A, XM_006719407.4:c.1559C>G, XM_006719407.3:c.1559C>A, XM_006719407.3:c.1559C>G, XM_006719407.2:c.1559C>A, XM_006719407.2:c.1559C>G, XM_006719407.1:c.1559C>A, XM_006719407.1:c.1559C>G, XM_006719409.4:c.1520C>A, XM_006719409.4:c.1520C>G, XM_006719409.3:c.1520C>A, XM_006719409.3:c.1520C>G, XM_006719409.2:c.1520C>A, XM_006719409.2:c.1520C>G, XM_006719409.1:c.1520C>A, XM_006719409.1:c.1520C>G, XM_017019318.3:c.1538C>A, XM_017019318.3:c.1538C>G, XM_017019318.2:c.1538C>A, XM_017019318.2:c.1538C>G, XM_017019318.1:c.1538C>A, XM_017019318.1:c.1538C>G, XM_017019315.3:c.1538C>A, XM_017019315.3:c.1538C>G, XM_017019315.2:c.1538C>A, XM_017019315.2:c.1538C>G, XM_017019315.1:c.1538C>A, XM_017019315.1:c.1538C>G, XM_017019319.3:c.1463C>A, XM_017019319.3:c.1463C>G, XM_017019319.2:c.1463C>A, XM_017019319.2:c.1463C>G, XM_017019319.1:c.1463C>A, XM_017019319.1:c.1463C>G, XM_017019321.3:c.1463C>A, XM_017019321.3:c.1463C>G, XM_017019317.2:c.1520C>A, XM_017019317.2:c.1520C>G, XM_017019317.1:c.1520C>A, XM_017019317.1:c.1520C>G, XM_017019320.2:c.1442C>A, XM_017019320.2:c.1442C>G, XM_017019320.1:c.1442C>A, XM_017019320.1:c.1442C>G, XM_017019316.2:c.1595C>A, XM_017019316.2:c.1595C>G, XM_017019316.1:c.1595C>A, XM_017019316.1:c.1595C>G, XM_017019322.2:c.1385C>A, XM_017019322.2:c.1385C>G, XM_047428875.1:c.1442C>A, XM_047428875.1:c.1442C>G, NP_002456.2:p.Ala532Asp, NP_002456.2:p.Ala532Gly, NP_996555.1:p.Ala532Asp, NP_996555.1:p.Ala532Gly, NP_996556.1:p.Ala507Asp, NP_996556.1:p.Ala507Gly, NP_996557.1:p.Ala507Asp, NP_996557.1:p.Ala507Gly, NP_001241647.1:p.Ala507Asp, NP_001241647.1:p.Ala507Gly, NP_001241648.1:p.Ala507Asp, NP_001241648.1:p.Ala507Gly, NP_001241649.1:p.Ala495Asp, NP_001241649.1:p.Ala495Gly, NP_001241650.1:p.Ala488Asp, NP_001241650.1:p.Ala488Gly, NP_001241651.1:p.Ala481Asp, NP_001241651.1:p.Ala481Gly, NP_001241652.1:p.Ala494Asp, NP_001241652.1:p.Ala494Gly, XP_006719469.1:p.Ala532Asp, XP_006719469.1:p.Ala532Gly, XP_006719473.1:p.Ala532Asp, XP_006719473.1:p.Ala532Gly, XP_006719468.1:p.Ala532Asp, XP_006719468.1:p.Ala532Gly, XP_006719471.1:p.Ala532Asp, XP_006719471.1:p.Ala532Gly, XP_005268933.1:p.Ala520Asp, XP_005268933.1:p.Ala520Gly, XP_006719474.1:p.Ala507Asp, XP_006719474.1:p.Ala507Gly, XP_006719470.1:p.Ala520Asp, XP_006719470.1:p.Ala520Gly, XP_006719472.1:p.Ala507Asp, XP_006719472.1:p.Ala507Gly, XP_016874807.1:p.Ala513Asp, XP_016874807.1:p.Ala513Gly, XP_016874804.1:p.Ala513Asp, XP_016874804.1:p.Ala513Gly, XP_016874808.1:p.Ala488Asp, XP_016874808.1:p.Ala488Gly, XP_016874810.1:p.Ala488Asp, XP_016874810.1:p.Ala488Gly, XP_016874806.1:p.Ala507Asp, XP_016874806.1:p.Ala507Gly, XP_016874809.1:p.Ala481Asp, XP_016874809.1:p.Ala481Gly, XP_016874805.1:p.Ala532Asp, XP_016874805.1:p.Ala532Gly, XP_016874811.1:p.Ala462Asp, XP_016874811.1:p.Ala462Gly, XP_047284831.1:p.Ala481Asp, XP_047284831.1:p.Ala481Gly

                    10.

                    rs1479817762 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      12:101649287 (GRCh38)
                      12:102043065 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:101649286:T:C
                      Gene:
                      MYBPC1 (Varview), LOC105369937 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.101649287T>C, NC_000012.11:g.102043065T>C, NG_031912.1:g.59357T>C, NM_002465.4:c.1224T>C, NM_002465.3:c.1224T>C, NM_206819.4:c.1224T>C, NM_206819.3:c.1224T>C, NM_206819.2:c.1224T>C, NM_206820.4:c.1149T>C, NM_206820.3:c.1149T>C, NM_206820.2:c.1149T>C, NM_206821.4:c.1149T>C, NM_206821.3:c.1149T>C, NM_206821.2:c.1149T>C, NM_001254718.3:c.1149T>C, NM_001254718.2:c.1149T>C, NM_001254718.1:c.1149T>C, NM_001254719.3:c.1149T>C, NM_001254719.2:c.1149T>C, NM_001254719.1:c.1149T>C, NM_001254720.3:c.1113T>C, NM_001254720.2:c.1113T>C, NM_001254720.1:c.1113T>C, NM_001254721.3:c.1092T>C, NM_001254721.2:c.1092T>C, NM_001254721.1:c.1092T>C, NM_001254722.3:c.1071T>C, NM_001254722.2:c.1071T>C, NM_001254722.1:c.1071T>C, NM_001254723.3:c.1110T>C, NM_001254723.2:c.1110T>C, NM_001254723.1:c.1110T>C, NM_001404675.1:c.1224T>C, NM_001404678.1:c.1092T>C, NM_001404679.1:c.1014T>C, NM_001404680.1:c.1071T>C, NM_001404676.1:c.1092T>C, NM_001404681.1:c.1014T>C, NM_001404677.1:c.1014T>C, XM_006719406.5:c.1224T>C, XM_006719406.4:c.1224T>C, XM_006719406.3:c.1224T>C, XM_006719406.2:c.1224T>C, XM_006719406.1:c.1224T>C, XM_006719410.5:c.1224T>C, XM_006719410.4:c.1224T>C, XM_006719410.3:c.1224T>C, XM_006719410.2:c.1224T>C, XM_006719410.1:c.1224T>C, XM_006719405.5:c.1224T>C, XM_006719405.4:c.1224T>C, XM_006719405.3:c.1224T>C, XM_006719405.2:c.1224T>C, XM_006719405.1:c.1224T>C, XM_006719408.5:c.1224T>C, XM_005268876.5:c.1188T>C, XM_005268876.4:c.1188T>C, XM_005268876.3:c.1188T>C, XM_005268876.2:c.1188T>C, XM_005268876.1:c.1188T>C, XM_006719411.4:c.1149T>C, XM_006719411.3:c.1149T>C, XM_006719411.2:c.1149T>C, XM_006719411.1:c.1149T>C, XM_006719407.4:c.1188T>C, XM_006719407.3:c.1188T>C, XM_006719407.2:c.1188T>C, XM_006719407.1:c.1188T>C, XM_006719409.4:c.1149T>C, XM_006719409.3:c.1149T>C, XM_006719409.2:c.1149T>C, XM_006719409.1:c.1149T>C, XM_017019318.3:c.1167T>C, XM_017019318.2:c.1167T>C, XM_017019318.1:c.1167T>C, XM_017019315.3:c.1167T>C, XM_017019315.2:c.1167T>C, XM_017019315.1:c.1167T>C, XM_017019319.3:c.1092T>C, XM_017019319.2:c.1092T>C, XM_017019319.1:c.1092T>C, XM_017019321.3:c.1092T>C, XM_017019317.2:c.1149T>C, XM_017019317.1:c.1149T>C, XM_017019320.2:c.1071T>C, XM_017019320.1:c.1071T>C, XM_017019316.2:c.1224T>C, XM_017019316.1:c.1224T>C, XM_017019322.2:c.1014T>C, XM_047428875.1:c.1071T>C

                      11.

                      rs1479442376 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        12:101651392 (GRCh38)
                        12:102045170 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:101651391:A:G
                        Gene:
                        MYBPC1 (Varview), LOC105369937 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.101651392A>G, NC_000012.11:g.102045170A>G, NG_031912.1:g.61462A>G, NM_002465.4:c.1525A>G, NM_002465.3:c.1525A>G, NM_206819.4:c.1525A>G, NM_206819.3:c.1525A>G, NM_206819.2:c.1525A>G, NM_206820.4:c.1450A>G, NM_206820.3:c.1450A>G, NM_206820.2:c.1450A>G, NM_206821.4:c.1450A>G, NM_206821.3:c.1450A>G, NM_206821.2:c.1450A>G, NM_001254718.3:c.1450A>G, NM_001254718.2:c.1450A>G, NM_001254718.1:c.1450A>G, NM_001254719.3:c.1450A>G, NM_001254719.2:c.1450A>G, NM_001254719.1:c.1450A>G, NM_001254720.3:c.1414A>G, NM_001254720.2:c.1414A>G, NM_001254720.1:c.1414A>G, NM_001254721.3:c.1393A>G, NM_001254721.2:c.1393A>G, NM_001254721.1:c.1393A>G, NM_001254722.3:c.1372A>G, NM_001254722.2:c.1372A>G, NM_001254722.1:c.1372A>G, NM_001254723.3:c.1411A>G, NM_001254723.2:c.1411A>G, NM_001254723.1:c.1411A>G, NM_001404675.1:c.1525A>G, NM_001404678.1:c.1393A>G, NM_001404679.1:c.1315A>G, NM_001404680.1:c.1372A>G, NM_001404676.1:c.1393A>G, NM_001404681.1:c.1315A>G, NM_001404677.1:c.1315A>G, XM_006719406.5:c.1525A>G, XM_006719406.4:c.1525A>G, XM_006719406.3:c.1525A>G, XM_006719406.2:c.1525A>G, XM_006719406.1:c.1525A>G, XM_006719410.5:c.1525A>G, XM_006719410.4:c.1525A>G, XM_006719410.3:c.1525A>G, XM_006719410.2:c.1525A>G, XM_006719410.1:c.1525A>G, XM_006719405.5:c.1525A>G, XM_006719405.4:c.1525A>G, XM_006719405.3:c.1525A>G, XM_006719405.2:c.1525A>G, XM_006719405.1:c.1525A>G, XM_006719408.5:c.1525A>G, XM_005268876.5:c.1489A>G, XM_005268876.4:c.1489A>G, XM_005268876.3:c.1489A>G, XM_005268876.2:c.1489A>G, XM_005268876.1:c.1489A>G, XM_006719411.4:c.1450A>G, XM_006719411.3:c.1450A>G, XM_006719411.2:c.1450A>G, XM_006719411.1:c.1450A>G, XM_006719407.4:c.1489A>G, XM_006719407.3:c.1489A>G, XM_006719407.2:c.1489A>G, XM_006719407.1:c.1489A>G, XM_006719409.4:c.1450A>G, XM_006719409.3:c.1450A>G, XM_006719409.2:c.1450A>G, XM_006719409.1:c.1450A>G, XM_017019318.3:c.1468A>G, XM_017019318.2:c.1468A>G, XM_017019318.1:c.1468A>G, XM_017019315.3:c.1468A>G, XM_017019315.2:c.1468A>G, XM_017019315.1:c.1468A>G, XM_017019319.3:c.1393A>G, XM_017019319.2:c.1393A>G, XM_017019319.1:c.1393A>G, XM_017019321.3:c.1393A>G, XM_017019317.2:c.1450A>G, XM_017019317.1:c.1450A>G, XM_017019320.2:c.1372A>G, XM_017019320.1:c.1372A>G, XM_017019316.2:c.1525A>G, XM_017019316.1:c.1525A>G, XM_017019322.2:c.1315A>G, XM_047428875.1:c.1372A>G, NP_002456.2:p.Arg509Gly, NP_996555.1:p.Arg509Gly, NP_996556.1:p.Arg484Gly, NP_996557.1:p.Arg484Gly, NP_001241647.1:p.Arg484Gly, NP_001241648.1:p.Arg484Gly, NP_001241649.1:p.Arg472Gly, NP_001241650.1:p.Arg465Gly, NP_001241651.1:p.Arg458Gly, NP_001241652.1:p.Arg471Gly, XP_006719469.1:p.Arg509Gly, XP_006719473.1:p.Arg509Gly, XP_006719468.1:p.Arg509Gly, XP_006719471.1:p.Arg509Gly, XP_005268933.1:p.Arg497Gly, XP_006719474.1:p.Arg484Gly, XP_006719470.1:p.Arg497Gly, XP_006719472.1:p.Arg484Gly, XP_016874807.1:p.Arg490Gly, XP_016874804.1:p.Arg490Gly, XP_016874808.1:p.Arg465Gly, XP_016874810.1:p.Arg465Gly, XP_016874806.1:p.Arg484Gly, XP_016874809.1:p.Arg458Gly, XP_016874805.1:p.Arg509Gly, XP_016874811.1:p.Arg439Gly, XP_047284831.1:p.Arg458Gly

                        12.

                        rs1478958841 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          12:101651379 (GRCh38)
                          12:102045157 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:101651378:G:T
                          Gene:
                          MYBPC1 (Varview), LOC105369937 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          T=0.000531/9 (TOMMO)
                          HGVS:
                          NC_000012.12:g.101651379G>T, NC_000012.11:g.102045157G>T, NG_031912.1:g.61449G>T, NM_002465.4:c.1512G>T, NM_002465.3:c.1512G>T, NM_206819.4:c.1512G>T, NM_206819.3:c.1512G>T, NM_206819.2:c.1512G>T, NM_206820.4:c.1437G>T, NM_206820.3:c.1437G>T, NM_206820.2:c.1437G>T, NM_206821.4:c.1437G>T, NM_206821.3:c.1437G>T, NM_206821.2:c.1437G>T, NM_001254718.3:c.1437G>T, NM_001254718.2:c.1437G>T, NM_001254718.1:c.1437G>T, NM_001254719.3:c.1437G>T, NM_001254719.2:c.1437G>T, NM_001254719.1:c.1437G>T, NM_001254720.3:c.1401G>T, NM_001254720.2:c.1401G>T, NM_001254720.1:c.1401G>T, NM_001254721.3:c.1380G>T, NM_001254721.2:c.1380G>T, NM_001254721.1:c.1380G>T, NM_001254722.3:c.1359G>T, NM_001254722.2:c.1359G>T, NM_001254722.1:c.1359G>T, NM_001254723.3:c.1398G>T, NM_001254723.2:c.1398G>T, NM_001254723.1:c.1398G>T, NM_001404675.1:c.1512G>T, NM_001404678.1:c.1380G>T, NM_001404679.1:c.1302G>T, NM_001404680.1:c.1359G>T, NM_001404676.1:c.1380G>T, NM_001404681.1:c.1302G>T, NM_001404677.1:c.1302G>T, XM_006719406.5:c.1512G>T, XM_006719406.4:c.1512G>T, XM_006719406.3:c.1512G>T, XM_006719406.2:c.1512G>T, XM_006719406.1:c.1512G>T, XM_006719410.5:c.1512G>T, XM_006719410.4:c.1512G>T, XM_006719410.3:c.1512G>T, XM_006719410.2:c.1512G>T, XM_006719410.1:c.1512G>T, XM_006719405.5:c.1512G>T, XM_006719405.4:c.1512G>T, XM_006719405.3:c.1512G>T, XM_006719405.2:c.1512G>T, XM_006719405.1:c.1512G>T, XM_006719408.5:c.1512G>T, XM_005268876.5:c.1476G>T, XM_005268876.4:c.1476G>T, XM_005268876.3:c.1476G>T, XM_005268876.2:c.1476G>T, XM_005268876.1:c.1476G>T, XM_006719411.4:c.1437G>T, XM_006719411.3:c.1437G>T, XM_006719411.2:c.1437G>T, XM_006719411.1:c.1437G>T, XM_006719407.4:c.1476G>T, XM_006719407.3:c.1476G>T, XM_006719407.2:c.1476G>T, XM_006719407.1:c.1476G>T, XM_006719409.4:c.1437G>T, XM_006719409.3:c.1437G>T, XM_006719409.2:c.1437G>T, XM_006719409.1:c.1437G>T, XM_017019318.3:c.1455G>T, XM_017019318.2:c.1455G>T, XM_017019318.1:c.1455G>T, XM_017019315.3:c.1455G>T, XM_017019315.2:c.1455G>T, XM_017019315.1:c.1455G>T, XM_017019319.3:c.1380G>T, XM_017019319.2:c.1380G>T, XM_017019319.1:c.1380G>T, XM_017019321.3:c.1380G>T, XM_017019317.2:c.1437G>T, XM_017019317.1:c.1437G>T, XM_017019320.2:c.1359G>T, XM_017019320.1:c.1359G>T, XM_017019316.2:c.1512G>T, XM_017019316.1:c.1512G>T, XM_017019322.2:c.1302G>T, XM_047428875.1:c.1359G>T

                          13.

                          rs1478191875 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:101651304 (GRCh38)
                            12:102045082 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:101651303:T:C
                            Gene:
                            MYBPC1 (Varview), LOC105369937 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.101651304T>C, NC_000012.11:g.102045082T>C, NG_031912.1:g.61374T>C, NM_002465.4:c.1437T>C, NM_002465.3:c.1437T>C, NM_206819.4:c.1437T>C, NM_206819.3:c.1437T>C, NM_206819.2:c.1437T>C, NM_206820.4:c.1362T>C, NM_206820.3:c.1362T>C, NM_206820.2:c.1362T>C, NM_206821.4:c.1362T>C, NM_206821.3:c.1362T>C, NM_206821.2:c.1362T>C, NM_001254718.3:c.1362T>C, NM_001254718.2:c.1362T>C, NM_001254718.1:c.1362T>C, NM_001254719.3:c.1362T>C, NM_001254719.2:c.1362T>C, NM_001254719.1:c.1362T>C, NM_001254720.3:c.1326T>C, NM_001254720.2:c.1326T>C, NM_001254720.1:c.1326T>C, NM_001254721.3:c.1305T>C, NM_001254721.2:c.1305T>C, NM_001254721.1:c.1305T>C, NM_001254722.3:c.1284T>C, NM_001254722.2:c.1284T>C, NM_001254722.1:c.1284T>C, NM_001254723.3:c.1323T>C, NM_001254723.2:c.1323T>C, NM_001254723.1:c.1323T>C, NM_001404675.1:c.1437T>C, NM_001404678.1:c.1305T>C, NM_001404679.1:c.1227T>C, NM_001404680.1:c.1284T>C, NM_001404676.1:c.1305T>C, NM_001404681.1:c.1227T>C, NM_001404677.1:c.1227T>C, XM_006719406.5:c.1437T>C, XM_006719406.4:c.1437T>C, XM_006719406.3:c.1437T>C, XM_006719406.2:c.1437T>C, XM_006719406.1:c.1437T>C, XM_006719410.5:c.1437T>C, XM_006719410.4:c.1437T>C, XM_006719410.3:c.1437T>C, XM_006719410.2:c.1437T>C, XM_006719410.1:c.1437T>C, XM_006719405.5:c.1437T>C, XM_006719405.4:c.1437T>C, XM_006719405.3:c.1437T>C, XM_006719405.2:c.1437T>C, XM_006719405.1:c.1437T>C, XM_006719408.5:c.1437T>C, XM_005268876.5:c.1401T>C, XM_005268876.4:c.1401T>C, XM_005268876.3:c.1401T>C, XM_005268876.2:c.1401T>C, XM_005268876.1:c.1401T>C, XM_006719411.4:c.1362T>C, XM_006719411.3:c.1362T>C, XM_006719411.2:c.1362T>C, XM_006719411.1:c.1362T>C, XM_006719407.4:c.1401T>C, XM_006719407.3:c.1401T>C, XM_006719407.2:c.1401T>C, XM_006719407.1:c.1401T>C, XM_006719409.4:c.1362T>C, XM_006719409.3:c.1362T>C, XM_006719409.2:c.1362T>C, XM_006719409.1:c.1362T>C, XM_017019318.3:c.1380T>C, XM_017019318.2:c.1380T>C, XM_017019318.1:c.1380T>C, XM_017019315.3:c.1380T>C, XM_017019315.2:c.1380T>C, XM_017019315.1:c.1380T>C, XM_017019319.3:c.1305T>C, XM_017019319.2:c.1305T>C, XM_017019319.1:c.1305T>C, XM_017019321.3:c.1305T>C, XM_017019317.2:c.1362T>C, XM_017019317.1:c.1362T>C, XM_017019320.2:c.1284T>C, XM_017019320.1:c.1284T>C, XM_017019316.2:c.1437T>C, XM_017019316.1:c.1437T>C, XM_017019322.2:c.1227T>C, XM_047428875.1:c.1284T>C

                            14.

                            rs1476556441 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              12:101636720 (GRCh38)
                              12:102030498 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:101636719:G:C
                              Gene:
                              MYBPC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,synonymous_variant
                              HGVS:
                              NC_000012.12:g.101636720G>C, NC_000012.11:g.102030498G>C, NG_031912.1:g.46790G>C, NM_002465.4:c.657G>C, NM_002465.3:c.657G>C, NM_206819.4:c.657G>C, NM_206819.3:c.657G>C, NM_206819.2:c.657G>C, NM_206820.4:c.582G>C, NM_206820.3:c.582G>C, NM_206820.2:c.582G>C, NM_206821.4:c.582G>C, NM_206821.3:c.582G>C, NM_206821.2:c.582G>C, NM_001254718.3:c.582G>C, NM_001254718.2:c.582G>C, NM_001254718.1:c.582G>C, NM_001254719.3:c.582G>C, NM_001254719.2:c.582G>C, NM_001254719.1:c.582G>C, NM_001254720.3:c.546G>C, NM_001254720.2:c.546G>C, NM_001254720.1:c.546G>C, NM_001254722.3:c.504G>C, NM_001254722.2:c.504G>C, NM_001254722.1:c.504G>C, NM_001254723.3:c.543G>C, NM_001254723.2:c.543G>C, NM_001254723.1:c.543G>C, NM_001404675.1:c.657G>C, NM_001404680.1:c.504G>C, XM_006719406.5:c.657G>C, XM_006719406.4:c.657G>C, XM_006719406.3:c.657G>C, XM_006719406.2:c.657G>C, XM_006719406.1:c.657G>C, XM_006719410.5:c.657G>C, XM_006719410.4:c.657G>C, XM_006719410.3:c.657G>C, XM_006719410.2:c.657G>C, XM_006719410.1:c.657G>C, XM_006719405.5:c.657G>C, XM_006719405.4:c.657G>C, XM_006719405.3:c.657G>C, XM_006719405.2:c.657G>C, XM_006719405.1:c.657G>C, XM_006719408.5:c.657G>C, XM_005268876.5:c.621G>C, XM_005268876.4:c.621G>C, XM_005268876.3:c.621G>C, XM_005268876.2:c.621G>C, XM_005268876.1:c.621G>C, XM_006719411.4:c.582G>C, XM_006719411.3:c.582G>C, XM_006719411.2:c.582G>C, XM_006719411.1:c.582G>C, XM_006719407.4:c.621G>C, XM_006719407.3:c.621G>C, XM_006719407.2:c.621G>C, XM_006719407.1:c.621G>C, XM_006719409.4:c.582G>C, XM_006719409.3:c.582G>C, XM_006719409.2:c.582G>C, XM_006719409.1:c.582G>C, XM_017019317.2:c.582G>C, XM_017019317.1:c.582G>C, XM_017019320.2:c.504G>C, XM_017019320.1:c.504G>C, XM_017019316.2:c.657G>C, XM_017019316.1:c.657G>C, XM_047428875.1:c.504G>C

                              15.

                              rs1476448738 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                12:101667889 (GRCh38)
                                12:102061667 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:101667888:G:A
                                Gene:
                                MYBPC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000012.12:g.101667889G>A, NC_000012.11:g.102061667G>A, NG_031912.1:g.77959G>A, NM_002465.4:c.2514G>A, NM_002465.3:c.2514G>A, NM_206819.4:c.2514G>A, NM_206819.3:c.2514G>A, NM_206819.2:c.2514G>A, NM_206820.4:c.2493G>A, NM_206820.3:c.2493G>A, NM_206820.2:c.2493G>A, NM_206821.4:c.2439G>A, NM_206821.3:c.2439G>A, NM_206821.2:c.2439G>A, NM_001254718.3:c.2493G>A, NM_001254718.2:c.2493G>A, NM_001254718.1:c.2493G>A, NM_001254719.3:c.2439G>A, NM_001254719.2:c.2439G>A, NM_001254719.1:c.2439G>A, NM_001254720.3:c.2403G>A, NM_001254720.2:c.2403G>A, NM_001254720.1:c.2403G>A, NM_001254721.3:c.2382G>A, NM_001254721.2:c.2382G>A, NM_001254721.1:c.2382G>A, NM_001254722.3:c.2361G>A, NM_001254722.2:c.2361G>A, NM_001254722.1:c.2361G>A, NM_001254723.3:c.2400G>A, NM_001254723.2:c.2400G>A, NM_001254723.1:c.2400G>A, NM_001404675.1:c.2514G>A, NM_001404678.1:c.2382G>A, NM_001404679.1:c.2304G>A, NM_001404680.1:c.2361G>A, NM_001404676.1:c.2382G>A, NM_001404681.1:c.2304G>A, NM_001404677.1:c.2304G>A, XM_006719406.5:c.2568G>A, XM_006719406.4:c.2568G>A, XM_006719406.3:c.2568G>A, XM_006719406.2:c.2568G>A, XM_006719406.1:c.2568G>A, XM_006719410.5:c.2568G>A, XM_006719410.4:c.2568G>A, XM_006719410.3:c.2568G>A, XM_006719410.2:c.2568G>A, XM_006719410.1:c.2568G>A, XM_006719405.5:c.2568G>A, XM_006719405.4:c.2568G>A, XM_006719405.3:c.2568G>A, XM_006719405.2:c.2568G>A, XM_006719405.1:c.2568G>A, XM_006719408.5:c.2514G>A, XM_005268876.5:c.2478G>A, XM_005268876.4:c.2478G>A, XM_005268876.3:c.2478G>A, XM_005268876.2:c.2478G>A, XM_005268876.1:c.2478G>A, XM_006719411.4:c.2493G>A, XM_006719411.3:c.2493G>A, XM_006719411.2:c.2493G>A, XM_006719411.1:c.2493G>A, XM_006719407.4:c.2532G>A, XM_006719407.3:c.2532G>A, XM_006719407.2:c.2532G>A, XM_006719407.1:c.2532G>A, XM_006719409.4:c.2493G>A, XM_006719409.3:c.2493G>A, XM_006719409.2:c.2493G>A, XM_006719409.1:c.2493G>A, XM_017019318.3:c.2457G>A, XM_017019318.2:c.2457G>A, XM_017019318.1:c.2457G>A, XM_017019315.3:c.2511G>A, XM_017019315.2:c.2511G>A, XM_017019315.1:c.2511G>A, XM_017019319.3:c.2436G>A, XM_017019319.2:c.2436G>A, XM_017019319.1:c.2436G>A, XM_017019321.3:c.2382G>A, XM_017019317.2:c.2439G>A, XM_017019317.1:c.2439G>A, XM_017019320.2:c.2415G>A, XM_017019320.1:c.2415G>A, XM_017019316.2:c.2568G>A, XM_017019316.1:c.2568G>A, XM_017019322.2:c.2304G>A, XM_047428875.1:c.2361G>A

                                16.

                                rs1474889310 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:101629513 (GRCh38)
                                  12:102023291 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:101629512:T:C
                                  Gene:
                                  MYBPC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.101629513T>C, NC_000012.11:g.102023291T>C, NG_031912.1:g.39583T>C, NM_002465.4:c.258T>C, NM_002465.3:c.258T>C, NM_206819.4:c.258T>C, NM_206819.3:c.258T>C, NM_206819.2:c.258T>C, NM_206820.4:c.183T>C, NM_206820.3:c.183T>C, NM_206820.2:c.183T>C, NM_206821.4:c.183T>C, NM_206821.3:c.183T>C, NM_206821.2:c.183T>C, NM_001254718.3:c.183T>C, NM_001254718.2:c.183T>C, NM_001254718.1:c.183T>C, NM_001254719.3:c.183T>C, NM_001254719.2:c.183T>C, NM_001254719.1:c.183T>C, NM_001254720.3:c.147T>C, NM_001254720.2:c.147T>C, NM_001254720.1:c.147T>C, NM_001254721.3:c.183T>C, NM_001254721.2:c.183T>C, NM_001254721.1:c.183T>C, NM_001254722.3:c.105T>C, NM_001254722.2:c.105T>C, NM_001254722.1:c.105T>C, NM_001254723.3:c.144T>C, NM_001254723.2:c.144T>C, NM_001254723.1:c.144T>C, NM_001404675.1:c.258T>C, NM_001404678.1:c.183T>C, NM_001404679.1:c.105T>C, NM_001404680.1:c.105T>C, NM_001404676.1:c.183T>C, NM_001404681.1:c.105T>C, NM_001404677.1:c.105T>C, XM_006719406.5:c.258T>C, XM_006719406.4:c.258T>C, XM_006719406.3:c.258T>C, XM_006719406.2:c.258T>C, XM_006719406.1:c.258T>C, XM_006719410.5:c.258T>C, XM_006719410.4:c.258T>C, XM_006719410.3:c.258T>C, XM_006719410.2:c.258T>C, XM_006719410.1:c.258T>C, XM_006719405.5:c.258T>C, XM_006719405.4:c.258T>C, XM_006719405.3:c.258T>C, XM_006719405.2:c.258T>C, XM_006719405.1:c.258T>C, XM_006719408.5:c.258T>C, XM_005268876.5:c.222T>C, XM_005268876.4:c.222T>C, XM_005268876.3:c.222T>C, XM_005268876.2:c.222T>C, XM_005268876.1:c.222T>C, XM_006719411.4:c.183T>C, XM_006719411.3:c.183T>C, XM_006719411.2:c.183T>C, XM_006719411.1:c.183T>C, XM_006719407.4:c.222T>C, XM_006719407.3:c.222T>C, XM_006719407.2:c.222T>C, XM_006719407.1:c.222T>C, XM_006719409.4:c.183T>C, XM_006719409.3:c.183T>C, XM_006719409.2:c.183T>C, XM_006719409.1:c.183T>C, XM_017019318.3:c.258T>C, XM_017019318.2:c.258T>C, XM_017019318.1:c.258T>C, XM_017019315.3:c.258T>C, XM_017019315.2:c.258T>C, XM_017019315.1:c.258T>C, XM_017019319.3:c.183T>C, XM_017019319.2:c.183T>C, XM_017019319.1:c.183T>C, XM_017019321.3:c.183T>C, XM_017019317.2:c.183T>C, XM_017019317.1:c.183T>C, XM_017019320.2:c.105T>C, XM_017019320.1:c.105T>C, XM_017019316.2:c.258T>C, XM_017019316.1:c.258T>C, XM_017019322.2:c.105T>C, XM_047428875.1:c.105T>C

                                  17.

                                  rs1473572084 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    12:101680445 (GRCh38)
                                    12:102074223 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:101680444:A:G
                                    Gene:
                                    MYBPC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000012.12:g.101680445A>G, NC_000012.11:g.102074223A>G, NG_031912.1:g.90515A>G, NM_002465.4:c.3349A>G, NM_002465.3:c.3349A>G, NM_206819.4:c.3349A>G, NM_206819.3:c.3349A>G, NM_206819.2:c.3349A>G, NM_206820.4:c.3328A>G, NM_206820.3:c.3328A>G, NM_206820.2:c.3328A>G, NM_206821.4:c.3274A>G, NM_206821.3:c.3274A>G, NM_206821.2:c.3274A>G, NM_001254718.3:c.3328A>G, NM_001254718.2:c.3328A>G, NM_001254718.1:c.3328A>G, NM_001254719.3:c.3274A>G, NM_001254719.2:c.3274A>G, NM_001254719.1:c.3274A>G, NM_001254720.3:c.3238A>G, NM_001254720.2:c.3238A>G, NM_001254720.1:c.3238A>G, NM_001254721.3:c.3217A>G, NM_001254721.2:c.3217A>G, NM_001254721.1:c.3217A>G, NM_001254722.3:c.3196A>G, NM_001254722.2:c.3196A>G, NM_001254722.1:c.3196A>G, NM_001254723.3:c.3235A>G, NM_001254723.2:c.3235A>G, NM_001254723.1:c.3235A>G, NM_001404675.1:c.3349A>G, NM_001404678.1:c.3217A>G, NM_001404679.1:c.3139A>G, NM_001404680.1:c.3196A>G, NM_001404676.1:c.3217A>G, NM_001404681.1:c.3139A>G, NM_001404677.1:c.3139A>G, XM_006719406.5:c.3403A>G, XM_006719406.4:c.3403A>G, XM_006719406.3:c.3403A>G, XM_006719406.2:c.3403A>G, XM_006719406.1:c.3403A>G, XM_006719410.5:c.3403A>G, XM_006719410.4:c.3403A>G, XM_006719410.3:c.3403A>G, XM_006719410.2:c.3403A>G, XM_006719410.1:c.3403A>G, XM_006719405.5:c.3403A>G, XM_006719405.4:c.3403A>G, XM_006719405.3:c.3403A>G, XM_006719405.2:c.3403A>G, XM_006719405.1:c.3403A>G, XM_006719408.5:c.3349A>G, XM_005268876.5:c.3313A>G, XM_005268876.4:c.3313A>G, XM_005268876.3:c.3313A>G, XM_005268876.2:c.3313A>G, XM_005268876.1:c.3313A>G, XM_006719411.4:c.3328A>G, XM_006719411.3:c.3328A>G, XM_006719411.2:c.3328A>G, XM_006719411.1:c.3328A>G, XM_006719407.4:c.3367A>G, XM_006719407.3:c.3367A>G, XM_006719407.2:c.3367A>G, XM_006719407.1:c.3367A>G, XM_006719409.4:c.3328A>G, XM_006719409.3:c.3328A>G, XM_006719409.2:c.3328A>G, XM_006719409.1:c.3328A>G, XM_017019318.3:c.3292A>G, XM_017019318.2:c.3292A>G, XM_017019318.1:c.3292A>G, XM_017019315.3:c.3346A>G, XM_017019315.2:c.3346A>G, XM_017019315.1:c.3346A>G, XM_017019319.3:c.3271A>G, XM_017019319.2:c.3271A>G, XM_017019319.1:c.3271A>G, XM_017019321.3:c.3217A>G, XM_017019317.2:c.3274A>G, XM_017019317.1:c.3274A>G, XM_017019320.2:c.3250A>G, XM_017019320.1:c.3250A>G, XM_017019316.2:c.3403A>G, XM_017019316.1:c.3403A>G, XM_017019322.2:c.3139A>G, XM_047428875.1:c.3196A>G, NP_002456.2:p.Ser1117Gly, NP_996555.1:p.Ser1117Gly, NP_996556.1:p.Ser1110Gly, NP_996557.1:p.Ser1092Gly, NP_001241647.1:p.Ser1110Gly, NP_001241648.1:p.Ser1092Gly, NP_001241649.1:p.Ser1080Gly, NP_001241650.1:p.Ser1073Gly, NP_001241651.1:p.Ser1066Gly, NP_001241652.1:p.Ser1079Gly, XP_006719469.1:p.Ser1135Gly, XP_006719473.1:p.Ser1135Gly, XP_006719468.1:p.Ser1135Gly, XP_006719471.1:p.Ser1117Gly, XP_005268933.1:p.Ser1105Gly, XP_006719474.1:p.Ser1110Gly, XP_006719470.1:p.Ser1123Gly, XP_006719472.1:p.Ser1110Gly, XP_016874807.1:p.Ser1098Gly, XP_016874804.1:p.Ser1116Gly, XP_016874808.1:p.Ser1091Gly, XP_016874810.1:p.Ser1073Gly, XP_016874806.1:p.Ser1092Gly, XP_016874809.1:p.Ser1084Gly, XP_016874805.1:p.Ser1135Gly, XP_016874811.1:p.Ser1047Gly, XP_047284831.1:p.Ser1066Gly

                                    18.

                                    rs1472522633 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      12:101680488 (GRCh38)
                                      12:102074266 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:101680487:A:C
                                      Gene:
                                      MYBPC1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000028/1 (ALFA)
                                      C=0.000014/2 (GnomAD)
                                      C=0.000023/6 (TOPMED)
                                      HGVS:
                                      NC_000012.12:g.101680488A>C, NC_000012.11:g.102074266A>C, NG_031912.1:g.90558A>C, NM_002465.4:c.3392A>C, NM_002465.3:c.3392A>C, NM_206819.4:c.3392A>C, NM_206819.3:c.3392A>C, NM_206819.2:c.3392A>C, NM_206820.4:c.3371A>C, NM_206820.3:c.3371A>C, NM_206820.2:c.3371A>C, NM_206821.4:c.3317A>C, NM_206821.3:c.3317A>C, NM_206821.2:c.3317A>C, NM_001254718.3:c.3371A>C, NM_001254718.2:c.3371A>C, NM_001254718.1:c.3371A>C, NM_001254719.3:c.3317A>C, NM_001254719.2:c.3317A>C, NM_001254719.1:c.3317A>C, NM_001254720.3:c.3281A>C, NM_001254720.2:c.3281A>C, NM_001254720.1:c.3281A>C, NM_001254721.3:c.3260A>C, NM_001254721.2:c.3260A>C, NM_001254721.1:c.3260A>C, NM_001254722.3:c.3239A>C, NM_001254722.2:c.3239A>C, NM_001254722.1:c.3239A>C, NM_001254723.3:c.3278A>C, NM_001254723.2:c.3278A>C, NM_001254723.1:c.3278A>C, NM_001404675.1:c.3392A>C, NM_001404678.1:c.3260A>C, NM_001404679.1:c.3182A>C, NM_001404680.1:c.3239A>C, NM_001404676.1:c.3260A>C, NM_001404681.1:c.3182A>C, NM_001404677.1:c.3182A>C, XM_006719406.5:c.3446A>C, XM_006719406.4:c.3446A>C, XM_006719406.3:c.3446A>C, XM_006719406.2:c.3446A>C, XM_006719406.1:c.3446A>C, XM_006719410.5:c.3446A>C, XM_006719410.4:c.3446A>C, XM_006719410.3:c.3446A>C, XM_006719410.2:c.3446A>C, XM_006719410.1:c.3446A>C, XM_006719405.5:c.3446A>C, XM_006719405.4:c.3446A>C, XM_006719405.3:c.3446A>C, XM_006719405.2:c.3446A>C, XM_006719405.1:c.3446A>C, XM_006719408.5:c.3392A>C, XM_005268876.5:c.3356A>C, XM_005268876.4:c.3356A>C, XM_005268876.3:c.3356A>C, XM_005268876.2:c.3356A>C, XM_005268876.1:c.3356A>C, XM_006719411.4:c.3371A>C, XM_006719411.3:c.3371A>C, XM_006719411.2:c.3371A>C, XM_006719411.1:c.3371A>C, XM_006719407.4:c.3410A>C, XM_006719407.3:c.3410A>C, XM_006719407.2:c.3410A>C, XM_006719407.1:c.3410A>C, XM_006719409.4:c.3371A>C, XM_006719409.3:c.3371A>C, XM_006719409.2:c.3371A>C, XM_006719409.1:c.3371A>C, XM_017019318.3:c.3335A>C, XM_017019318.2:c.3335A>C, XM_017019318.1:c.3335A>C, XM_017019315.3:c.3389A>C, XM_017019315.2:c.3389A>C, XM_017019315.1:c.3389A>C, XM_017019319.3:c.3314A>C, XM_017019319.2:c.3314A>C, XM_017019319.1:c.3314A>C, XM_017019321.3:c.3260A>C, XM_017019317.2:c.3317A>C, XM_017019317.1:c.3317A>C, XM_017019320.2:c.3293A>C, XM_017019320.1:c.3293A>C, XM_017019316.2:c.3446A>C, XM_017019316.1:c.3446A>C, XM_017019322.2:c.3182A>C, XM_047428875.1:c.3239A>C, NP_002456.2:p.Asp1131Ala, NP_996555.1:p.Asp1131Ala, NP_996556.1:p.Asp1124Ala, NP_996557.1:p.Asp1106Ala, NP_001241647.1:p.Asp1124Ala, NP_001241648.1:p.Asp1106Ala, NP_001241649.1:p.Asp1094Ala, NP_001241650.1:p.Asp1087Ala, NP_001241651.1:p.Asp1080Ala, NP_001241652.1:p.Asp1093Ala, XP_006719469.1:p.Asp1149Ala, XP_006719473.1:p.Asp1149Ala, XP_006719468.1:p.Asp1149Ala, XP_006719471.1:p.Asp1131Ala, XP_005268933.1:p.Asp1119Ala, XP_006719474.1:p.Asp1124Ala, XP_006719470.1:p.Asp1137Ala, XP_006719472.1:p.Asp1124Ala, XP_016874807.1:p.Asp1112Ala, XP_016874804.1:p.Asp1130Ala, XP_016874808.1:p.Asp1105Ala, XP_016874810.1:p.Asp1087Ala, XP_016874806.1:p.Asp1106Ala, XP_016874809.1:p.Asp1098Ala, XP_016874805.1:p.Asp1149Ala, XP_016874811.1:p.Asp1061Ala, XP_047284831.1:p.Asp1080Ala

                                      19.

                                      rs1471920107 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        12:101649366 (GRCh38)
                                        12:102043144 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:101649365:G:A
                                        Gene:
                                        MYBPC1 (Varview), LOC105369937 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.101649366G>A, NC_000012.11:g.102043144G>A, NG_031912.1:g.59436G>A, NM_002465.4:c.1303G>A, NM_002465.3:c.1303G>A, NM_206819.4:c.1303G>A, NM_206819.3:c.1303G>A, NM_206819.2:c.1303G>A, NM_206820.4:c.1228G>A, NM_206820.3:c.1228G>A, NM_206820.2:c.1228G>A, NM_206821.4:c.1228G>A, NM_206821.3:c.1228G>A, NM_206821.2:c.1228G>A, NM_001254718.3:c.1228G>A, NM_001254718.2:c.1228G>A, NM_001254718.1:c.1228G>A, NM_001254719.3:c.1228G>A, NM_001254719.2:c.1228G>A, NM_001254719.1:c.1228G>A, NM_001254720.3:c.1192G>A, NM_001254720.2:c.1192G>A, NM_001254720.1:c.1192G>A, NM_001254721.3:c.1171G>A, NM_001254721.2:c.1171G>A, NM_001254721.1:c.1171G>A, NM_001254722.3:c.1150G>A, NM_001254722.2:c.1150G>A, NM_001254722.1:c.1150G>A, NM_001254723.3:c.1189G>A, NM_001254723.2:c.1189G>A, NM_001254723.1:c.1189G>A, NM_001404675.1:c.1303G>A, NM_001404678.1:c.1171G>A, NM_001404679.1:c.1093G>A, NM_001404680.1:c.1150G>A, NM_001404676.1:c.1171G>A, NM_001404681.1:c.1093G>A, NM_001404677.1:c.1093G>A, XM_006719406.5:c.1303G>A, XM_006719406.4:c.1303G>A, XM_006719406.3:c.1303G>A, XM_006719406.2:c.1303G>A, XM_006719406.1:c.1303G>A, XM_006719410.5:c.1303G>A, XM_006719410.4:c.1303G>A, XM_006719410.3:c.1303G>A, XM_006719410.2:c.1303G>A, XM_006719410.1:c.1303G>A, XM_006719405.5:c.1303G>A, XM_006719405.4:c.1303G>A, XM_006719405.3:c.1303G>A, XM_006719405.2:c.1303G>A, XM_006719405.1:c.1303G>A, XM_006719408.5:c.1303G>A, XM_005268876.5:c.1267G>A, XM_005268876.4:c.1267G>A, XM_005268876.3:c.1267G>A, XM_005268876.2:c.1267G>A, XM_005268876.1:c.1267G>A, XM_006719411.4:c.1228G>A, XM_006719411.3:c.1228G>A, XM_006719411.2:c.1228G>A, XM_006719411.1:c.1228G>A, XM_006719407.4:c.1267G>A, XM_006719407.3:c.1267G>A, XM_006719407.2:c.1267G>A, XM_006719407.1:c.1267G>A, XM_006719409.4:c.1228G>A, XM_006719409.3:c.1228G>A, XM_006719409.2:c.1228G>A, XM_006719409.1:c.1228G>A, XM_017019318.3:c.1246G>A, XM_017019318.2:c.1246G>A, XM_017019318.1:c.1246G>A, XM_017019315.3:c.1246G>A, XM_017019315.2:c.1246G>A, XM_017019315.1:c.1246G>A, XM_017019319.3:c.1171G>A, XM_017019319.2:c.1171G>A, XM_017019319.1:c.1171G>A, XM_017019321.3:c.1171G>A, XM_017019317.2:c.1228G>A, XM_017019317.1:c.1228G>A, XM_017019320.2:c.1150G>A, XM_017019320.1:c.1150G>A, XM_017019316.2:c.1303G>A, XM_017019316.1:c.1303G>A, XM_017019322.2:c.1093G>A, XM_047428875.1:c.1150G>A, NP_002456.2:p.Ala435Thr, NP_996555.1:p.Ala435Thr, NP_996556.1:p.Ala410Thr, NP_996557.1:p.Ala410Thr, NP_001241647.1:p.Ala410Thr, NP_001241648.1:p.Ala410Thr, NP_001241649.1:p.Ala398Thr, NP_001241650.1:p.Ala391Thr, NP_001241651.1:p.Ala384Thr, NP_001241652.1:p.Ala397Thr, XP_006719469.1:p.Ala435Thr, XP_006719473.1:p.Ala435Thr, XP_006719468.1:p.Ala435Thr, XP_006719471.1:p.Ala435Thr, XP_005268933.1:p.Ala423Thr, XP_006719474.1:p.Ala410Thr, XP_006719470.1:p.Ala423Thr, XP_006719472.1:p.Ala410Thr, XP_016874807.1:p.Ala416Thr, XP_016874804.1:p.Ala416Thr, XP_016874808.1:p.Ala391Thr, XP_016874810.1:p.Ala391Thr, XP_016874806.1:p.Ala410Thr, XP_016874809.1:p.Ala384Thr, XP_016874805.1:p.Ala435Thr, XP_016874811.1:p.Ala365Thr, XP_047284831.1:p.Ala384Thr

                                        20.

                                        rs1470701280 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          12:101673580 (GRCh38)
                                          12:102067358 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:101673579:G:A
                                          Gene:
                                          MYBPC1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_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_000012.12:g.101673580G>A, NC_000012.11:g.102067358G>A, NG_031912.1:g.83650G>A, NM_002465.4:c.2767G>A, NM_002465.3:c.2767G>A, NM_206819.4:c.2767G>A, NM_206819.3:c.2767G>A, NM_206819.2:c.2767G>A, NM_206820.4:c.2746G>A, NM_206820.3:c.2746G>A, NM_206820.2:c.2746G>A, NM_206821.4:c.2692G>A, NM_206821.3:c.2692G>A, NM_206821.2:c.2692G>A, NM_001254718.3:c.2746G>A, NM_001254718.2:c.2746G>A, NM_001254718.1:c.2746G>A, NM_001254719.3:c.2692G>A, NM_001254719.2:c.2692G>A, NM_001254719.1:c.2692G>A, NM_001254720.3:c.2656G>A, NM_001254720.2:c.2656G>A, NM_001254720.1:c.2656G>A, NM_001254721.3:c.2635G>A, NM_001254721.2:c.2635G>A, NM_001254721.1:c.2635G>A, NM_001254722.3:c.2614G>A, NM_001254722.2:c.2614G>A, NM_001254722.1:c.2614G>A, NM_001254723.3:c.2653G>A, NM_001254723.2:c.2653G>A, NM_001254723.1:c.2653G>A, NM_001404675.1:c.2767G>A, NM_001404678.1:c.2635G>A, NM_001404679.1:c.2557G>A, NM_001404680.1:c.2614G>A, NM_001404676.1:c.2635G>A, NM_001404681.1:c.2557G>A, NM_001404677.1:c.2557G>A, XM_006719406.5:c.2821G>A, XM_006719406.4:c.2821G>A, XM_006719406.3:c.2821G>A, XM_006719406.2:c.2821G>A, XM_006719406.1:c.2821G>A, XM_006719410.5:c.2821G>A, XM_006719410.4:c.2821G>A, XM_006719410.3:c.2821G>A, XM_006719410.2:c.2821G>A, XM_006719410.1:c.2821G>A, XM_006719405.5:c.2821G>A, XM_006719405.4:c.2821G>A, XM_006719405.3:c.2821G>A, XM_006719405.2:c.2821G>A, XM_006719405.1:c.2821G>A, XM_006719408.5:c.2767G>A, XM_005268876.5:c.2731G>A, XM_005268876.4:c.2731G>A, XM_005268876.3:c.2731G>A, XM_005268876.2:c.2731G>A, XM_005268876.1:c.2731G>A, XM_006719411.4:c.2746G>A, XM_006719411.3:c.2746G>A, XM_006719411.2:c.2746G>A, XM_006719411.1:c.2746G>A, XM_006719407.4:c.2785G>A, XM_006719407.3:c.2785G>A, XM_006719407.2:c.2785G>A, XM_006719407.1:c.2785G>A, XM_006719409.4:c.2746G>A, XM_006719409.3:c.2746G>A, XM_006719409.2:c.2746G>A, XM_006719409.1:c.2746G>A, XM_017019318.3:c.2710G>A, XM_017019318.2:c.2710G>A, XM_017019318.1:c.2710G>A, XM_017019315.3:c.2764G>A, XM_017019315.2:c.2764G>A, XM_017019315.1:c.2764G>A, XM_017019319.3:c.2689G>A, XM_017019319.2:c.2689G>A, XM_017019319.1:c.2689G>A, XM_017019321.3:c.2635G>A, XM_017019317.2:c.2692G>A, XM_017019317.1:c.2692G>A, XM_017019320.2:c.2668G>A, XM_017019320.1:c.2668G>A, XM_017019316.2:c.2821G>A, XM_017019316.1:c.2821G>A, XM_017019322.2:c.2557G>A, XM_047428875.1:c.2614G>A, NP_002456.2:p.Asp923Asn, NP_996555.1:p.Asp923Asn, NP_996556.1:p.Asp916Asn, NP_996557.1:p.Asp898Asn, NP_001241647.1:p.Asp916Asn, NP_001241648.1:p.Asp898Asn, NP_001241649.1:p.Asp886Asn, NP_001241650.1:p.Asp879Asn, NP_001241651.1:p.Asp872Asn, NP_001241652.1:p.Asp885Asn, XP_006719469.1:p.Asp941Asn, XP_006719473.1:p.Asp941Asn, XP_006719468.1:p.Asp941Asn, XP_006719471.1:p.Asp923Asn, XP_005268933.1:p.Asp911Asn, XP_006719474.1:p.Asp916Asn, XP_006719470.1:p.Asp929Asn, XP_006719472.1:p.Asp916Asn, XP_016874807.1:p.Asp904Asn, XP_016874804.1:p.Asp922Asn, XP_016874808.1:p.Asp897Asn, XP_016874810.1:p.Asp879Asn, XP_016874806.1:p.Asp898Asn, XP_016874809.1:p.Asp890Asn, XP_016874805.1:p.Asp941Asn, XP_016874811.1:p.Asp853Asn, XP_047284831.1:p.Asp872Asn

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