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Items: 1 to 20 of 931

1.

rs1490991726 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    3:169115966 (GRCh38)
    3:168833754 (GRCh37)
    Canonical SPDI:
    NC_000003.12:169115965:T:C
    Gene:
    MECOM (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    HGVS:
    NC_000003.12:g.169115966T>C, NC_000003.11:g.168833754T>C, NG_028279.2:g.552810A>G, NM_004991.4:c.1906A>G, NM_004991.3:c.1906A>G, NM_001105077.4:c.1537A>G, NM_001105077.3:c.1537A>G, NM_005241.4:c.1342A>G, NM_005241.3:c.1342A>G, NM_001105078.4:c.1342A>G, NM_001105078.3:c.1342A>G, NM_001366467.2:c.1345A>G, NM_001366467.1:c.1345A>G, NM_001366469.2:c.1342A>G, NM_001366469.1:c.1342A>G, NM_001366470.2:c.1345A>G, NM_001366470.1:c.1345A>G, NM_001164000.2:c.1342A>G, NM_001164000.1:c.1342A>G, NM_001366466.2:c.1906A>G, NM_001366466.1:c.1906A>G, NM_001205194.2:c.1342A>G, NM_001205194.1:c.1342A>G, NM_001366472.2:c.1342A>G, NM_001366472.1:c.1342A>G, NM_001366468.2:c.1345A>G, NM_001366468.1:c.1345A>G, NM_001163999.2:c.1345A>G, NM_001163999.1:c.1345A>G, NM_001366471.2:c.1342A>G, NM_001366471.1:c.1342A>G, XM_005247213.4:c.1909A>G, XM_005247213.3:c.1909A>G, XM_005247213.2:c.1909A>G, XM_005247213.1:c.1909A>G, XM_005247214.4:c.1909A>G, XM_005247214.3:c.1909A>G, XM_005247214.2:c.1909A>G, XM_005247214.1:c.1909A>G, XM_011512546.3:c.1561A>G, XM_011512546.2:c.1561A>G, XM_011512546.1:c.1561A>G, XM_005247221.3:c.1345A>G, XM_005247221.2:c.1345A>G, XM_005247221.1:c.1345A>G, XM_047447685.1:c.1345A>G, XM_047447677.1:c.1585A>G, XM_047447678.1:c.1582A>G, XM_047447679.1:c.1558A>G, XM_047447681.1:c.1534A>G, XM_047447680.1:c.1561A>G, XM_047447682.1:c.1558A>G, XM_047447686.1:c.1345A>G, XM_047447683.1:c.1537A>G, XM_047447684.1:c.1534A>G, XM_047447687.1:c.1345A>G, NP_004982.2:p.Lys636Glu, NP_001098547.3:p.Lys513Glu, NP_005232.2:p.Lys448Glu, NP_001098548.2:p.Lys448Glu, NP_001353396.1:p.Lys449Glu, NP_001353398.1:p.Lys448Glu, NP_001353399.1:p.Lys449Glu, NP_001157472.1:p.Lys448Glu, NP_001353395.1:p.Lys636Glu, NP_001192123.1:p.Lys448Glu, NP_001353401.1:p.Lys448Glu, NP_001353397.1:p.Lys449Glu, NP_001157471.1:p.Lys449Glu, NP_001353400.1:p.Lys448Glu, XP_005247270.1:p.Lys637Glu, XP_005247271.1:p.Lys637Glu, XP_011510848.1:p.Lys521Glu, XP_005247278.1:p.Lys449Glu, XP_047303641.1:p.Lys449Glu, XP_047303633.1:p.Lys529Glu, XP_047303634.1:p.Lys528Glu, XP_047303635.1:p.Lys520Glu, XP_047303637.1:p.Lys512Glu, XP_047303636.1:p.Lys521Glu, XP_047303638.1:p.Lys520Glu, XP_047303642.1:p.Lys449Glu, XP_047303639.1:p.Lys513Glu, XP_047303640.1:p.Lys512Glu, XP_047303643.1:p.Lys449Glu

    2.

    rs1490174560 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:169116368 (GRCh38)
      3:168834156 (GRCh37)
      Canonical SPDI:
      NC_000003.12:169116367:T:C
      Gene:
      MECOM (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,intron_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.169116368T>C, NC_000003.11:g.168834156T>C, NG_028279.2:g.552408A>G, NM_004991.4:c.1504A>G, NM_004991.3:c.1504A>G, NM_001105077.4:c.1135A>G, NM_001105077.3:c.1135A>G, NM_005241.4:c.940A>G, NM_005241.3:c.940A>G, NM_001105078.4:c.940A>G, NM_001105078.3:c.940A>G, NM_001366467.2:c.943A>G, NM_001366467.1:c.943A>G, NM_001366469.2:c.940A>G, NM_001366469.1:c.940A>G, NM_001366470.2:c.943A>G, NM_001366470.1:c.943A>G, NM_001164000.2:c.940A>G, NM_001164000.1:c.940A>G, NM_001366466.2:c.1504A>G, NM_001366466.1:c.1504A>G, NM_001205194.2:c.940A>G, NM_001205194.1:c.940A>G, NM_001366472.2:c.940A>G, NM_001366472.1:c.940A>G, NM_001366468.2:c.943A>G, NM_001366468.1:c.943A>G, NM_001163999.2:c.943A>G, NM_001163999.1:c.943A>G, NM_001366471.2:c.940A>G, NM_001366471.1:c.940A>G, XM_005247213.4:c.1507A>G, XM_005247213.3:c.1507A>G, XM_005247213.2:c.1507A>G, XM_005247213.1:c.1507A>G, XM_005247214.4:c.1507A>G, XM_005247214.3:c.1507A>G, XM_005247214.2:c.1507A>G, XM_005247214.1:c.1507A>G, XM_011512546.3:c.1159A>G, XM_011512546.2:c.1159A>G, XM_011512546.1:c.1159A>G, XM_005247221.3:c.943A>G, XM_005247221.2:c.943A>G, XM_005247221.1:c.943A>G, XM_047447685.1:c.943A>G, XM_047447677.1:c.1183A>G, XM_047447678.1:c.1180A>G, XM_047447679.1:c.1156A>G, XM_047447681.1:c.1132A>G, XM_047447680.1:c.1159A>G, XM_047447682.1:c.1156A>G, XM_047447686.1:c.943A>G, XM_047447683.1:c.1135A>G, XM_047447684.1:c.1132A>G, XM_047447687.1:c.943A>G, NP_004982.2:p.Arg502Gly, NP_001098547.3:p.Arg379Gly, NP_005232.2:p.Arg314Gly, NP_001098548.2:p.Arg314Gly, NP_001353396.1:p.Arg315Gly, NP_001353398.1:p.Arg314Gly, NP_001353399.1:p.Arg315Gly, NP_001157472.1:p.Arg314Gly, NP_001353395.1:p.Arg502Gly, NP_001192123.1:p.Arg314Gly, NP_001353401.1:p.Arg314Gly, NP_001353397.1:p.Arg315Gly, NP_001157471.1:p.Arg315Gly, NP_001353400.1:p.Arg314Gly, XP_005247270.1:p.Arg503Gly, XP_005247271.1:p.Arg503Gly, XP_011510848.1:p.Arg387Gly, XP_005247278.1:p.Arg315Gly, XP_047303641.1:p.Arg315Gly, XP_047303633.1:p.Arg395Gly, XP_047303634.1:p.Arg394Gly, XP_047303635.1:p.Arg386Gly, XP_047303637.1:p.Arg378Gly, XP_047303636.1:p.Arg387Gly, XP_047303638.1:p.Arg386Gly, XP_047303642.1:p.Arg315Gly, XP_047303639.1:p.Arg379Gly, XP_047303640.1:p.Arg378Gly, XP_047303643.1:p.Arg315Gly

      3.

      rs1489814714 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        3:169107945 (GRCh38)
        3:168825733 (GRCh37)
        Canonical SPDI:
        NC_000003.12:169107944:A:T
        Gene:
        MECOM (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000003.12:g.169107945A>T, NC_000003.11:g.168825733A>T, NG_028279.2:g.560831T>A, NM_004991.4:c.2585T>A, NM_004991.3:c.2585T>A, NM_001105077.4:c.2216T>A, NM_001105077.3:c.2216T>A, NM_005241.4:c.2021T>A, NM_005241.3:c.2021T>A, NM_001105078.4:c.2021T>A, NM_001105078.3:c.2021T>A, NM_001366467.2:c.2024T>A, NM_001366467.1:c.2024T>A, NM_001366469.2:c.2021T>A, NM_001366469.1:c.2021T>A, NM_001205194.2:c.2021T>A, NM_001205194.1:c.2021T>A, NM_001366468.2:c.2024T>A, NM_001366468.1:c.2024T>A, XM_005247213.4:c.2588T>A, XM_005247213.3:c.2588T>A, XM_005247213.2:c.2588T>A, XM_005247213.1:c.2588T>A, XM_011512546.3:c.2240T>A, XM_011512546.2:c.2240T>A, XM_011512546.1:c.2240T>A, XM_005247221.3:c.2024T>A, XM_005247221.2:c.2024T>A, XM_005247221.1:c.2024T>A, XM_047447685.1:c.2024T>A, XM_047447677.1:c.2264T>A, XM_047447678.1:c.2261T>A, XM_047447679.1:c.2237T>A, XM_047447681.1:c.2213T>A, XM_047447688.1:c.1265T>A, XM_047447691.1:c.1052T>A, XM_047447692.1:c.1049T>A, NP_004982.2:p.Leu862Gln, NP_001098547.3:p.Leu739Gln, NP_005232.2:p.Leu674Gln, NP_001098548.2:p.Leu674Gln, NP_001353396.1:p.Leu675Gln, NP_001353398.1:p.Leu674Gln, NP_001192123.1:p.Leu674Gln, NP_001353397.1:p.Leu675Gln, XP_005247270.1:p.Leu863Gln, XP_011510848.1:p.Leu747Gln, XP_005247278.1:p.Leu675Gln, XP_047303641.1:p.Leu675Gln, XP_047303633.1:p.Leu755Gln, XP_047303634.1:p.Leu754Gln, XP_047303635.1:p.Leu746Gln, XP_047303637.1:p.Leu738Gln, XP_047303644.1:p.Leu422Gln, XP_047303647.1:p.Leu351Gln, XP_047303648.1:p.Leu350Gln

        4.

        rs1488607871 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          3:169131458 (GRCh38)
          3:168849246 (GRCh37)
          Canonical SPDI:
          NC_000003.12:169131457:G:A
          Gene:
          MECOM (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000003.12:g.169131458G>A, NC_000003.11:g.168849246G>A, NG_028279.2:g.537318C>T, NM_004991.4:c.584C>T, NM_004991.3:c.584C>T, NM_001105077.4:c.212C>T, NM_001105077.3:c.212C>T, NM_005241.4:c.20C>T, NM_005241.3:c.20C>T, NM_001105078.4:c.20C>T, NM_001105078.3:c.20C>T, NM_001366467.2:c.20C>T, NM_001366467.1:c.20C>T, NM_001366469.2:c.20C>T, NM_001366469.1:c.20C>T, NM_001366470.2:c.20C>T, NM_001366470.1:c.20C>T, NM_001164000.2:c.20C>T, NM_001164000.1:c.20C>T, NM_001366466.2:c.584C>T, NM_001366466.1:c.584C>T, NM_001205194.2:c.20C>T, NM_001205194.1:c.20C>T, NM_001366472.2:c.20C>T, NM_001366472.1:c.20C>T, NM_001366468.2:c.20C>T, NM_001366468.1:c.20C>T, NM_001163999.2:c.20C>T, NM_001163999.1:c.20C>T, NM_001366471.2:c.20C>T, NM_001366471.1:c.20C>T, NM_001366474.2:c.20C>T, NM_001366474.1:c.20C>T, NM_001366473.2:c.584C>T, NM_001366473.1:c.584C>T, XM_005247213.4:c.584C>T, XM_005247213.3:c.584C>T, XM_005247213.2:c.584C>T, XM_005247213.1:c.584C>T, XM_005247214.4:c.584C>T, XM_005247214.3:c.584C>T, XM_005247214.2:c.584C>T, XM_005247214.1:c.584C>T, XM_011512546.3:c.236C>T, XM_011512546.2:c.236C>T, XM_011512546.1:c.236C>T, XM_005247221.3:c.20C>T, XM_005247221.2:c.20C>T, XM_005247221.1:c.20C>T, XM_047447685.1:c.20C>T, XM_047447677.1:c.260C>T, XM_047447678.1:c.260C>T, XM_047447679.1:c.236C>T, XM_047447681.1:c.212C>T, XM_047447680.1:c.236C>T, XM_047447682.1:c.236C>T, XM_047447686.1:c.20C>T, XM_047447683.1:c.212C>T, XM_047447684.1:c.212C>T, XM_047447687.1:c.20C>T, XM_047447688.1:c.236C>T, XM_047447691.1:c.20C>T, XM_047447692.1:c.20C>T, XM_047447689.1:c.236C>T, XM_047447690.1:c.236C>T, XM_047447693.1:c.20C>T, XM_047447694.1:c.20C>T, NP_004982.2:p.Pro195Leu, NP_001098547.3:p.Pro71Leu, NP_005232.2:p.Pro7Leu, NP_001098548.2:p.Pro7Leu, NP_001353396.1:p.Pro7Leu, NP_001353398.1:p.Pro7Leu, NP_001353399.1:p.Pro7Leu, NP_001157472.1:p.Pro7Leu, NP_001353395.1:p.Pro195Leu, NP_001192123.1:p.Pro7Leu, NP_001353401.1:p.Pro7Leu, NP_001353397.1:p.Pro7Leu, NP_001157471.1:p.Pro7Leu, NP_001353400.1:p.Pro7Leu, NP_001353403.1:p.Pro7Leu, NP_001353402.1:p.Pro195Leu, XP_005247270.1:p.Pro195Leu, XP_005247271.1:p.Pro195Leu, XP_011510848.1:p.Pro79Leu, XP_005247278.1:p.Pro7Leu, XP_047303641.1:p.Pro7Leu, XP_047303633.1:p.Pro87Leu, XP_047303634.1:p.Pro87Leu, XP_047303635.1:p.Pro79Leu, XP_047303637.1:p.Pro71Leu, XP_047303636.1:p.Pro79Leu, XP_047303638.1:p.Pro79Leu, XP_047303642.1:p.Pro7Leu, XP_047303639.1:p.Pro71Leu, XP_047303640.1:p.Pro71Leu, XP_047303643.1:p.Pro7Leu, XP_047303644.1:p.Pro79Leu, XP_047303647.1:p.Pro7Leu, XP_047303648.1:p.Pro7Leu, XP_047303645.1:p.Pro79Leu, XP_047303646.1:p.Pro79Leu, XP_047303649.1:p.Pro7Leu, XP_047303650.1:p.Pro7Leu

          5.

          rs1487955074 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            3:169116426 (GRCh38)
            3:168834214 (GRCh37)
            Canonical SPDI:
            NC_000003.12:169116425:T:C
            Gene:
            MECOM (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000029/4 (GnomAD)
            C=0.00003/8 (TOPMED)
            HGVS:
            NC_000003.12:g.169116426T>C, NC_000003.11:g.168834214T>C, NG_028279.2:g.552350A>G, NM_004991.4:c.1446A>G, NM_004991.3:c.1446A>G, NM_001105077.4:c.1077A>G, NM_001105077.3:c.1077A>G, NM_005241.4:c.882A>G, NM_005241.3:c.882A>G, NM_001105078.4:c.882A>G, NM_001105078.3:c.882A>G, NM_001366467.2:c.885A>G, NM_001366467.1:c.885A>G, NM_001366469.2:c.882A>G, NM_001366469.1:c.882A>G, NM_001366470.2:c.885A>G, NM_001366470.1:c.885A>G, NM_001164000.2:c.882A>G, NM_001164000.1:c.882A>G, NM_001366466.2:c.1446A>G, NM_001366466.1:c.1446A>G, NM_001205194.2:c.882A>G, NM_001205194.1:c.882A>G, NM_001366472.2:c.882A>G, NM_001366472.1:c.882A>G, NM_001366468.2:c.885A>G, NM_001366468.1:c.885A>G, NM_001163999.2:c.885A>G, NM_001163999.1:c.885A>G, NM_001366471.2:c.882A>G, NM_001366471.1:c.882A>G, XM_005247213.4:c.1449A>G, XM_005247213.3:c.1449A>G, XM_005247213.2:c.1449A>G, XM_005247213.1:c.1449A>G, XM_005247214.4:c.1449A>G, XM_005247214.3:c.1449A>G, XM_005247214.2:c.1449A>G, XM_005247214.1:c.1449A>G, XM_011512546.3:c.1101A>G, XM_011512546.2:c.1101A>G, XM_011512546.1:c.1101A>G, XM_005247221.3:c.885A>G, XM_005247221.2:c.885A>G, XM_005247221.1:c.885A>G, XM_047447685.1:c.885A>G, XM_047447677.1:c.1125A>G, XM_047447678.1:c.1122A>G, XM_047447679.1:c.1098A>G, XM_047447681.1:c.1074A>G, XM_047447680.1:c.1101A>G, XM_047447682.1:c.1098A>G, XM_047447686.1:c.885A>G, XM_047447683.1:c.1077A>G, XM_047447684.1:c.1074A>G, XM_047447687.1:c.885A>G

            6.

            rs1485678717 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              3:169115882 (GRCh38)
              3:168833670 (GRCh37)
              Canonical SPDI:
              NC_000003.12:169115881:C:T
              Gene:
              MECOM (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.169115882C>T, NC_000003.11:g.168833670C>T, NG_028279.2:g.552894G>A, NM_004991.4:c.1990G>A, NM_004991.3:c.1990G>A, NM_001105077.4:c.1621G>A, NM_001105077.3:c.1621G>A, NM_005241.4:c.1426G>A, NM_005241.3:c.1426G>A, NM_001105078.4:c.1426G>A, NM_001105078.3:c.1426G>A, NM_001366467.2:c.1429G>A, NM_001366467.1:c.1429G>A, NM_001366469.2:c.1426G>A, NM_001366469.1:c.1426G>A, NM_001366470.2:c.1429G>A, NM_001366470.1:c.1429G>A, NM_001164000.2:c.1426G>A, NM_001164000.1:c.1426G>A, NM_001366466.2:c.1990G>A, NM_001366466.1:c.1990G>A, NM_001205194.2:c.1426G>A, NM_001205194.1:c.1426G>A, NM_001366472.2:c.1426G>A, NM_001366472.1:c.1426G>A, NM_001366468.2:c.1429G>A, NM_001366468.1:c.1429G>A, NM_001163999.2:c.1429G>A, NM_001163999.1:c.1429G>A, NM_001366471.2:c.1426G>A, NM_001366471.1:c.1426G>A, XM_005247213.4:c.1993G>A, XM_005247213.3:c.1993G>A, XM_005247213.2:c.1993G>A, XM_005247213.1:c.1993G>A, XM_005247214.4:c.1993G>A, XM_005247214.3:c.1993G>A, XM_005247214.2:c.1993G>A, XM_005247214.1:c.1993G>A, XM_011512546.3:c.1645G>A, XM_011512546.2:c.1645G>A, XM_011512546.1:c.1645G>A, XM_005247221.3:c.1429G>A, XM_005247221.2:c.1429G>A, XM_005247221.1:c.1429G>A, XM_047447685.1:c.1429G>A, XM_047447677.1:c.1669G>A, XM_047447678.1:c.1666G>A, XM_047447679.1:c.1642G>A, XM_047447681.1:c.1618G>A, XM_047447680.1:c.1645G>A, XM_047447682.1:c.1642G>A, XM_047447686.1:c.1429G>A, XM_047447683.1:c.1621G>A, XM_047447684.1:c.1618G>A, XM_047447687.1:c.1429G>A, NP_004982.2:p.Ala664Thr, NP_001098547.3:p.Ala541Thr, NP_005232.2:p.Ala476Thr, NP_001098548.2:p.Ala476Thr, NP_001353396.1:p.Ala477Thr, NP_001353398.1:p.Ala476Thr, NP_001353399.1:p.Ala477Thr, NP_001157472.1:p.Ala476Thr, NP_001353395.1:p.Ala664Thr, NP_001192123.1:p.Ala476Thr, NP_001353401.1:p.Ala476Thr, NP_001353397.1:p.Ala477Thr, NP_001157471.1:p.Ala477Thr, NP_001353400.1:p.Ala476Thr, XP_005247270.1:p.Ala665Thr, XP_005247271.1:p.Ala665Thr, XP_011510848.1:p.Ala549Thr, XP_005247278.1:p.Ala477Thr, XP_047303641.1:p.Ala477Thr, XP_047303633.1:p.Ala557Thr, XP_047303634.1:p.Ala556Thr, XP_047303635.1:p.Ala548Thr, XP_047303637.1:p.Ala540Thr, XP_047303636.1:p.Ala549Thr, XP_047303638.1:p.Ala548Thr, XP_047303642.1:p.Ala477Thr, XP_047303639.1:p.Ala541Thr, XP_047303640.1:p.Ala540Thr, XP_047303643.1:p.Ala477Thr

              7.

              rs1485455195 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:169093042 (GRCh38)
                3:168810830 (GRCh37)
                Canonical SPDI:
                NC_000003.12:169093041:T:C
                Gene:
                MECOM (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000007/1 (GnomAD)
                C=0.000008/2 (TOPMED)
                HGVS:
                NC_000003.12:g.169093042T>C, NC_000003.11:g.168810830T>C, NG_028279.2:g.575734A>G, NM_004991.4:c.3080A>G, NM_004991.3:c.3080A>G, NM_001105077.4:c.2711A>G, NM_001105077.3:c.2711A>G, NM_005241.4:c.2516A>G, NM_005241.3:c.2516A>G, NM_001105078.4:c.2516A>G, NM_001105078.3:c.2516A>G, NM_001366467.2:c.2519A>G, NM_001366467.1:c.2519A>G, NM_001366469.2:c.2516A>G, NM_001366469.1:c.2516A>G, NM_001366470.2:c.2492A>G, NM_001366470.1:c.2492A>G, NM_001164000.2:c.2489A>G, NM_001164000.1:c.2489A>G, NM_001366466.2:c.3053A>G, NM_001366466.1:c.3053A>G, NM_001205194.2:c.2516A>G, NM_001205194.1:c.2516A>G, NM_001366472.2:c.2489A>G, NM_001366472.1:c.2489A>G, NM_001366468.2:c.2519A>G, NM_001366468.1:c.2519A>G, NM_001163999.2:c.2492A>G, NM_001163999.1:c.2492A>G, NM_001366471.2:c.2489A>G, NM_001366471.1:c.2489A>G, NM_001366474.2:c.1517A>G, NM_001366474.1:c.1517A>G, NM_001366473.2:c.2081A>G, NM_001366473.1:c.2081A>G, XM_005247213.4:c.3083A>G, XM_005247213.3:c.3083A>G, XM_005247213.2:c.3083A>G, XM_005247213.1:c.3083A>G, XM_005247214.4:c.3056A>G, XM_005247214.3:c.3056A>G, XM_005247214.2:c.3056A>G, XM_005247214.1:c.3056A>G, XM_011512546.3:c.2735A>G, XM_011512546.2:c.2735A>G, XM_011512546.1:c.2735A>G, XM_005247221.3:c.2519A>G, XM_005247221.2:c.2519A>G, XM_005247221.1:c.2519A>G, XM_047447685.1:c.2519A>G, XM_047447677.1:c.2759A>G, XM_047447678.1:c.2756A>G, XM_047447679.1:c.2732A>G, XM_047447681.1:c.2708A>G, XM_047447680.1:c.2708A>G, XM_047447682.1:c.2705A>G, XM_047447686.1:c.2492A>G, XM_047447683.1:c.2684A>G, XM_047447684.1:c.2681A>G, XM_047447687.1:c.2492A>G, XM_047447688.1:c.1760A>G, XM_047447691.1:c.1547A>G, XM_047447692.1:c.1544A>G, XM_047447689.1:c.1736A>G, XM_047447690.1:c.1733A>G, XM_047447693.1:c.1520A>G, XM_047447694.1:c.1517A>G, NP_004982.2:p.Lys1027Arg, NP_001098547.3:p.Lys904Arg, NP_005232.2:p.Lys839Arg, NP_001098548.2:p.Lys839Arg, NP_001353396.1:p.Lys840Arg, NP_001353398.1:p.Lys839Arg, NP_001353399.1:p.Lys831Arg, NP_001157472.1:p.Lys830Arg, NP_001353395.1:p.Lys1018Arg, NP_001192123.1:p.Lys839Arg, NP_001353401.1:p.Lys830Arg, NP_001353397.1:p.Lys840Arg, NP_001157471.1:p.Lys831Arg, NP_001353400.1:p.Lys830Arg, NP_001353403.1:p.Lys506Arg, NP_001353402.1:p.Lys694Arg, XP_005247270.1:p.Lys1028Arg, XP_005247271.1:p.Lys1019Arg, XP_011510848.1:p.Lys912Arg, XP_005247278.1:p.Lys840Arg, XP_047303641.1:p.Lys840Arg, XP_047303633.1:p.Lys920Arg, XP_047303634.1:p.Lys919Arg, XP_047303635.1:p.Lys911Arg, XP_047303637.1:p.Lys903Arg, XP_047303636.1:p.Lys903Arg, XP_047303638.1:p.Lys902Arg, XP_047303642.1:p.Lys831Arg, XP_047303639.1:p.Lys895Arg, XP_047303640.1:p.Lys894Arg, XP_047303643.1:p.Lys831Arg, XP_047303644.1:p.Lys587Arg, XP_047303647.1:p.Lys516Arg, XP_047303648.1:p.Lys515Arg, XP_047303645.1:p.Lys579Arg, XP_047303646.1:p.Lys578Arg, XP_047303649.1:p.Lys507Arg, XP_047303650.1:p.Lys506Arg

                8.

                rs1485251146 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  3:169090033 (GRCh38)
                  3:168807821 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:169090032:G:C
                  Gene:
                  MECOM (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000003.12:g.169090033G>C, NC_000003.11:g.168807821G>C, NG_028279.2:g.578743C>G, NM_004991.4:c.3368C>G, NM_004991.3:c.3368C>G, NM_001105077.4:c.2999C>G, NM_001105077.3:c.2999C>G, NM_005241.4:c.2804C>G, NM_005241.3:c.2804C>G, NM_001105078.4:c.2804C>G, NM_001105078.3:c.2804C>G, NM_001366467.2:c.2807C>G, NM_001366467.1:c.2807C>G, NM_001366469.2:c.2804C>G, NM_001366469.1:c.2804C>G, NM_001366470.2:c.2780C>G, NM_001366470.1:c.2780C>G, NM_001164000.2:c.2777C>G, NM_001164000.1:c.2777C>G, NM_001366466.2:c.3341C>G, NM_001366466.1:c.3341C>G, NM_001205194.2:c.2804C>G, NM_001205194.1:c.2804C>G, NM_001366472.2:c.2777C>G, NM_001366472.1:c.2777C>G, NM_001366468.2:c.2807C>G, NM_001366468.1:c.2807C>G, NM_001163999.2:c.2780C>G, NM_001163999.1:c.2780C>G, NM_001366471.2:c.2777C>G, NM_001366471.1:c.2777C>G, NM_001366474.2:c.1805C>G, NM_001366474.1:c.1805C>G, NM_001366473.2:c.2369C>G, NM_001366473.1:c.2369C>G, XM_005247213.4:c.3371C>G, XM_005247213.3:c.3371C>G, XM_005247213.2:c.3371C>G, XM_005247213.1:c.3371C>G, XM_005247214.4:c.3344C>G, XM_005247214.3:c.3344C>G, XM_005247214.2:c.3344C>G, XM_005247214.1:c.3344C>G, XM_011512546.3:c.3023C>G, XM_011512546.2:c.3023C>G, XM_011512546.1:c.3023C>G, XM_005247221.3:c.2807C>G, XM_005247221.2:c.2807C>G, XM_005247221.1:c.2807C>G, XM_047447685.1:c.2807C>G, XM_047447677.1:c.3047C>G, XM_047447678.1:c.3044C>G, XM_047447679.1:c.3020C>G, XM_047447681.1:c.2996C>G, XM_047447680.1:c.2996C>G, XM_047447682.1:c.2993C>G, XM_047447686.1:c.2780C>G, XM_047447683.1:c.2972C>G, XM_047447684.1:c.2969C>G, XM_047447687.1:c.2780C>G, XM_047447688.1:c.2048C>G, XM_047447691.1:c.1835C>G, XM_047447692.1:c.1832C>G, XM_047447689.1:c.2024C>G, XM_047447690.1:c.2021C>G, XM_047447693.1:c.1808C>G, XM_047447694.1:c.1805C>G, NP_004982.2:p.Ala1123Gly, NP_001098547.3:p.Ala1000Gly, NP_005232.2:p.Ala935Gly, NP_001098548.2:p.Ala935Gly, NP_001353396.1:p.Ala936Gly, NP_001353398.1:p.Ala935Gly, NP_001353399.1:p.Ala927Gly, NP_001157472.1:p.Ala926Gly, NP_001353395.1:p.Ala1114Gly, NP_001192123.1:p.Ala935Gly, NP_001353401.1:p.Ala926Gly, NP_001353397.1:p.Ala936Gly, NP_001157471.1:p.Ala927Gly, NP_001353400.1:p.Ala926Gly, NP_001353403.1:p.Ala602Gly, NP_001353402.1:p.Ala790Gly, XP_005247270.1:p.Ala1124Gly, XP_005247271.1:p.Ala1115Gly, XP_011510848.1:p.Ala1008Gly, XP_005247278.1:p.Ala936Gly, XP_047303641.1:p.Ala936Gly, XP_047303633.1:p.Ala1016Gly, XP_047303634.1:p.Ala1015Gly, XP_047303635.1:p.Ala1007Gly, XP_047303637.1:p.Ala999Gly, XP_047303636.1:p.Ala999Gly, XP_047303638.1:p.Ala998Gly, XP_047303642.1:p.Ala927Gly, XP_047303639.1:p.Ala991Gly, XP_047303640.1:p.Ala990Gly, XP_047303643.1:p.Ala927Gly, XP_047303644.1:p.Ala683Gly, XP_047303647.1:p.Ala612Gly, XP_047303648.1:p.Ala611Gly, XP_047303645.1:p.Ala675Gly, XP_047303646.1:p.Ala674Gly, XP_047303649.1:p.Ala603Gly, XP_047303650.1:p.Ala602Gly

                  9.

                  rs1481691528 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:169112832 (GRCh38)
                    3:168830620 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:169112831:T:C
                    Gene:
                    MECOM (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000003.12:g.169112832T>C, NC_000003.11:g.168830620T>C, NG_028279.2:g.555944A>G, NM_004991.4:c.2532A>G, NM_004991.3:c.2532A>G, NM_001105077.4:c.2163A>G, NM_001105077.3:c.2163A>G, NM_005241.4:c.1968A>G, NM_005241.3:c.1968A>G, NM_001105078.4:c.1968A>G, NM_001105078.3:c.1968A>G, NM_001366467.2:c.1971A>G, NM_001366467.1:c.1971A>G, NM_001366469.2:c.1968A>G, NM_001366469.1:c.1968A>G, NM_001366470.2:c.1971A>G, NM_001366470.1:c.1971A>G, NM_001164000.2:c.1968A>G, NM_001164000.1:c.1968A>G, NM_001366466.2:c.2532A>G, NM_001366466.1:c.2532A>G, NM_001205194.2:c.1968A>G, NM_001205194.1:c.1968A>G, NM_001366472.2:c.1968A>G, NM_001366472.1:c.1968A>G, NM_001366468.2:c.1971A>G, NM_001366468.1:c.1971A>G, NM_001163999.2:c.1971A>G, NM_001163999.1:c.1971A>G, NM_001366471.2:c.1968A>G, NM_001366471.1:c.1968A>G, NM_001366474.2:c.996A>G, NM_001366474.1:c.996A>G, NM_001366473.2:c.1560A>G, NM_001366473.1:c.1560A>G, XM_005247213.4:c.2535A>G, XM_005247213.3:c.2535A>G, XM_005247213.2:c.2535A>G, XM_005247213.1:c.2535A>G, XM_005247214.4:c.2535A>G, XM_005247214.3:c.2535A>G, XM_005247214.2:c.2535A>G, XM_005247214.1:c.2535A>G, XM_011512546.3:c.2187A>G, XM_011512546.2:c.2187A>G, XM_011512546.1:c.2187A>G, XM_005247221.3:c.1971A>G, XM_005247221.2:c.1971A>G, XM_005247221.1:c.1971A>G, XM_047447685.1:c.1971A>G, XM_047447677.1:c.2211A>G, XM_047447678.1:c.2208A>G, XM_047447679.1:c.2184A>G, XM_047447681.1:c.2160A>G, XM_047447680.1:c.2187A>G, XM_047447682.1:c.2184A>G, XM_047447686.1:c.1971A>G, XM_047447683.1:c.2163A>G, XM_047447684.1:c.2160A>G, XM_047447687.1:c.1971A>G, XM_047447688.1:c.1212A>G, XM_047447691.1:c.999A>G, XM_047447692.1:c.996A>G, XM_047447689.1:c.1215A>G, XM_047447690.1:c.1212A>G, XM_047447693.1:c.999A>G, XM_047447694.1:c.996A>G

                    10.

                    rs1480581715 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      3:169116306 (GRCh38)
                      3:168834094 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:169116305:G:A
                      Gene:
                      MECOM (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.169116306G>A, NC_000003.11:g.168834094G>A, NG_028279.2:g.552470C>T, NM_004991.4:c.1566C>T, NM_004991.3:c.1566C>T, NM_001105077.4:c.1197C>T, NM_001105077.3:c.1197C>T, NM_005241.4:c.1002C>T, NM_005241.3:c.1002C>T, NM_001105078.4:c.1002C>T, NM_001105078.3:c.1002C>T, NM_001366467.2:c.1005C>T, NM_001366467.1:c.1005C>T, NM_001366469.2:c.1002C>T, NM_001366469.1:c.1002C>T, NM_001366470.2:c.1005C>T, NM_001366470.1:c.1005C>T, NM_001164000.2:c.1002C>T, NM_001164000.1:c.1002C>T, NM_001366466.2:c.1566C>T, NM_001366466.1:c.1566C>T, NM_001205194.2:c.1002C>T, NM_001205194.1:c.1002C>T, NM_001366472.2:c.1002C>T, NM_001366472.1:c.1002C>T, NM_001366468.2:c.1005C>T, NM_001366468.1:c.1005C>T, NM_001163999.2:c.1005C>T, NM_001163999.1:c.1005C>T, NM_001366471.2:c.1002C>T, NM_001366471.1:c.1002C>T, XM_005247213.4:c.1569C>T, XM_005247213.3:c.1569C>T, XM_005247213.2:c.1569C>T, XM_005247213.1:c.1569C>T, XM_005247214.4:c.1569C>T, XM_005247214.3:c.1569C>T, XM_005247214.2:c.1569C>T, XM_005247214.1:c.1569C>T, XM_011512546.3:c.1221C>T, XM_011512546.2:c.1221C>T, XM_011512546.1:c.1221C>T, XM_005247221.3:c.1005C>T, XM_005247221.2:c.1005C>T, XM_005247221.1:c.1005C>T, XM_047447685.1:c.1005C>T, XM_047447677.1:c.1245C>T, XM_047447678.1:c.1242C>T, XM_047447679.1:c.1218C>T, XM_047447681.1:c.1194C>T, XM_047447680.1:c.1221C>T, XM_047447682.1:c.1218C>T, XM_047447686.1:c.1005C>T, XM_047447683.1:c.1197C>T, XM_047447684.1:c.1194C>T, XM_047447687.1:c.1005C>T

                      11.

                      rs1479986945 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>C,T [Show Flanks]
                        Chromosome:
                        3:169116071 (GRCh38)
                        3:168833859 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:169116070:G:C,NC_000003.12:169116070:G:T
                        Gene:
                        MECOM (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,intron_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000003.12:g.169116071G>C, NC_000003.12:g.169116071G>T, NC_000003.11:g.168833859G>C, NC_000003.11:g.168833859G>T, NG_028279.2:g.552705C>G, NG_028279.2:g.552705C>A, NM_004991.4:c.1801C>G, NM_004991.4:c.1801C>A, NM_004991.3:c.1801C>G, NM_004991.3:c.1801C>A, NM_001105077.4:c.1432C>G, NM_001105077.4:c.1432C>A, NM_001105077.3:c.1432C>G, NM_001105077.3:c.1432C>A, NM_005241.4:c.1237C>G, NM_005241.4:c.1237C>A, NM_005241.3:c.1237C>G, NM_005241.3:c.1237C>A, NM_001105078.4:c.1237C>G, NM_001105078.4:c.1237C>A, NM_001105078.3:c.1237C>G, NM_001105078.3:c.1237C>A, NM_001366467.2:c.1240C>G, NM_001366467.2:c.1240C>A, NM_001366467.1:c.1240C>G, NM_001366467.1:c.1240C>A, NM_001366469.2:c.1237C>G, NM_001366469.2:c.1237C>A, NM_001366469.1:c.1237C>G, NM_001366469.1:c.1237C>A, NM_001366470.2:c.1240C>G, NM_001366470.2:c.1240C>A, NM_001366470.1:c.1240C>G, NM_001366470.1:c.1240C>A, NM_001164000.2:c.1237C>G, NM_001164000.2:c.1237C>A, NM_001164000.1:c.1237C>G, NM_001164000.1:c.1237C>A, NM_001366466.2:c.1801C>G, NM_001366466.2:c.1801C>A, NM_001366466.1:c.1801C>G, NM_001366466.1:c.1801C>A, NM_001205194.2:c.1237C>G, NM_001205194.2:c.1237C>A, NM_001205194.1:c.1237C>G, NM_001205194.1:c.1237C>A, NM_001366472.2:c.1237C>G, NM_001366472.2:c.1237C>A, NM_001366472.1:c.1237C>G, NM_001366472.1:c.1237C>A, NM_001366468.2:c.1240C>G, NM_001366468.2:c.1240C>A, NM_001366468.1:c.1240C>G, NM_001366468.1:c.1240C>A, NM_001163999.2:c.1240C>G, NM_001163999.2:c.1240C>A, NM_001163999.1:c.1240C>G, NM_001163999.1:c.1240C>A, NM_001366471.2:c.1237C>G, NM_001366471.2:c.1237C>A, NM_001366471.1:c.1237C>G, NM_001366471.1:c.1237C>A, XM_005247213.4:c.1804C>G, XM_005247213.4:c.1804C>A, XM_005247213.3:c.1804C>G, XM_005247213.3:c.1804C>A, XM_005247213.2:c.1804C>G, XM_005247213.2:c.1804C>A, XM_005247213.1:c.1804C>G, XM_005247213.1:c.1804C>A, XM_005247214.4:c.1804C>G, XM_005247214.4:c.1804C>A, XM_005247214.3:c.1804C>G, XM_005247214.3:c.1804C>A, XM_005247214.2:c.1804C>G, XM_005247214.2:c.1804C>A, XM_005247214.1:c.1804C>G, XM_005247214.1:c.1804C>A, XM_011512546.3:c.1456C>G, XM_011512546.3:c.1456C>A, XM_011512546.2:c.1456C>G, XM_011512546.2:c.1456C>A, XM_011512546.1:c.1456C>G, XM_011512546.1:c.1456C>A, XM_005247221.3:c.1240C>G, XM_005247221.3:c.1240C>A, XM_005247221.2:c.1240C>G, XM_005247221.2:c.1240C>A, XM_005247221.1:c.1240C>G, XM_005247221.1:c.1240C>A, XM_047447685.1:c.1240C>G, XM_047447685.1:c.1240C>A, XM_047447677.1:c.1480C>G, XM_047447677.1:c.1480C>A, XM_047447678.1:c.1477C>G, XM_047447678.1:c.1477C>A, XM_047447679.1:c.1453C>G, XM_047447679.1:c.1453C>A, XM_047447681.1:c.1429C>G, XM_047447681.1:c.1429C>A, XM_047447680.1:c.1456C>G, XM_047447680.1:c.1456C>A, XM_047447682.1:c.1453C>G, XM_047447682.1:c.1453C>A, XM_047447686.1:c.1240C>G, XM_047447686.1:c.1240C>A, XM_047447683.1:c.1432C>G, XM_047447683.1:c.1432C>A, XM_047447684.1:c.1429C>G, XM_047447684.1:c.1429C>A, XM_047447687.1:c.1240C>G, XM_047447687.1:c.1240C>A, NP_004982.2:p.Leu601Val, NP_004982.2:p.Leu601Met, NP_001098547.3:p.Leu478Val, NP_001098547.3:p.Leu478Met, NP_005232.2:p.Leu413Val, NP_005232.2:p.Leu413Met, NP_001098548.2:p.Leu413Val, NP_001098548.2:p.Leu413Met, NP_001353396.1:p.Leu414Val, NP_001353396.1:p.Leu414Met, NP_001353398.1:p.Leu413Val, NP_001353398.1:p.Leu413Met, NP_001353399.1:p.Leu414Val, NP_001353399.1:p.Leu414Met, NP_001157472.1:p.Leu413Val, NP_001157472.1:p.Leu413Met, NP_001353395.1:p.Leu601Val, NP_001353395.1:p.Leu601Met, NP_001192123.1:p.Leu413Val, NP_001192123.1:p.Leu413Met, NP_001353401.1:p.Leu413Val, NP_001353401.1:p.Leu413Met, NP_001353397.1:p.Leu414Val, NP_001353397.1:p.Leu414Met, NP_001157471.1:p.Leu414Val, NP_001157471.1:p.Leu414Met, NP_001353400.1:p.Leu413Val, NP_001353400.1:p.Leu413Met, XP_005247270.1:p.Leu602Val, XP_005247270.1:p.Leu602Met, XP_005247271.1:p.Leu602Val, XP_005247271.1:p.Leu602Met, XP_011510848.1:p.Leu486Val, XP_011510848.1:p.Leu486Met, XP_005247278.1:p.Leu414Val, XP_005247278.1:p.Leu414Met, XP_047303641.1:p.Leu414Val, XP_047303641.1:p.Leu414Met, XP_047303633.1:p.Leu494Val, XP_047303633.1:p.Leu494Met, XP_047303634.1:p.Leu493Val, XP_047303634.1:p.Leu493Met, XP_047303635.1:p.Leu485Val, XP_047303635.1:p.Leu485Met, XP_047303637.1:p.Leu477Val, XP_047303637.1:p.Leu477Met, XP_047303636.1:p.Leu486Val, XP_047303636.1:p.Leu486Met, XP_047303638.1:p.Leu485Val, XP_047303638.1:p.Leu485Met, XP_047303642.1:p.Leu414Val, XP_047303642.1:p.Leu414Met, XP_047303639.1:p.Leu478Val, XP_047303639.1:p.Leu478Met, XP_047303640.1:p.Leu477Val, XP_047303640.1:p.Leu477Met, XP_047303643.1:p.Leu414Val, XP_047303643.1:p.Leu414Met

                        12.

                        rs1478600129 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          3:169128042 (GRCh38)
                          3:168845830 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:169128041:C:A
                          Gene:
                          MECOM (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.169128042C>A, NC_000003.11:g.168845830C>A, NG_028279.2:g.540734G>T, NM_004991.4:c.632G>T, NM_004991.3:c.632G>T, NM_001105077.4:c.260G>T, NM_001105077.3:c.260G>T, NM_005241.4:c.68G>T, NM_005241.3:c.68G>T, NM_001105078.4:c.68G>T, NM_001105078.3:c.68G>T, NM_001366467.2:c.68G>T, NM_001366467.1:c.68G>T, NM_001366469.2:c.68G>T, NM_001366469.1:c.68G>T, NM_001366470.2:c.68G>T, NM_001366470.1:c.68G>T, NM_001164000.2:c.68G>T, NM_001164000.1:c.68G>T, NM_001366466.2:c.632G>T, NM_001366466.1:c.632G>T, NM_001205194.2:c.68G>T, NM_001205194.1:c.68G>T, NM_001366472.2:c.68G>T, NM_001366472.1:c.68G>T, NM_001366468.2:c.68G>T, NM_001366468.1:c.68G>T, NM_001163999.2:c.68G>T, NM_001163999.1:c.68G>T, NM_001366471.2:c.68G>T, NM_001366471.1:c.68G>T, NM_001366474.2:c.68G>T, NM_001366474.1:c.68G>T, NM_001366473.2:c.632G>T, NM_001366473.1:c.632G>T, XM_005247213.4:c.632G>T, XM_005247213.3:c.632G>T, XM_005247213.2:c.632G>T, XM_005247213.1:c.632G>T, XM_005247214.4:c.632G>T, XM_005247214.3:c.632G>T, XM_005247214.2:c.632G>T, XM_005247214.1:c.632G>T, XM_011512546.3:c.284G>T, XM_011512546.2:c.284G>T, XM_011512546.1:c.284G>T, XM_005247221.3:c.68G>T, XM_005247221.2:c.68G>T, XM_005247221.1:c.68G>T, XM_047447685.1:c.68G>T, XM_047447677.1:c.308G>T, XM_047447678.1:c.308G>T, XM_047447679.1:c.284G>T, XM_047447681.1:c.260G>T, XM_047447680.1:c.284G>T, XM_047447682.1:c.284G>T, XM_047447686.1:c.68G>T, XM_047447683.1:c.260G>T, XM_047447684.1:c.260G>T, XM_047447687.1:c.68G>T, XM_047447688.1:c.284G>T, XM_047447691.1:c.68G>T, XM_047447692.1:c.68G>T, XM_047447689.1:c.284G>T, XM_047447690.1:c.284G>T, XM_047447693.1:c.68G>T, XM_047447694.1:c.68G>T, NP_004982.2:p.Cys211Phe, NP_001098547.3:p.Cys87Phe, NP_005232.2:p.Cys23Phe, NP_001098548.2:p.Cys23Phe, NP_001353396.1:p.Cys23Phe, NP_001353398.1:p.Cys23Phe, NP_001353399.1:p.Cys23Phe, NP_001157472.1:p.Cys23Phe, NP_001353395.1:p.Cys211Phe, NP_001192123.1:p.Cys23Phe, NP_001353401.1:p.Cys23Phe, NP_001353397.1:p.Cys23Phe, NP_001157471.1:p.Cys23Phe, NP_001353400.1:p.Cys23Phe, NP_001353403.1:p.Cys23Phe, NP_001353402.1:p.Cys211Phe, XP_005247270.1:p.Cys211Phe, XP_005247271.1:p.Cys211Phe, XP_011510848.1:p.Cys95Phe, XP_005247278.1:p.Cys23Phe, XP_047303641.1:p.Cys23Phe, XP_047303633.1:p.Cys103Phe, XP_047303634.1:p.Cys103Phe, XP_047303635.1:p.Cys95Phe, XP_047303637.1:p.Cys87Phe, XP_047303636.1:p.Cys95Phe, XP_047303638.1:p.Cys95Phe, XP_047303642.1:p.Cys23Phe, XP_047303639.1:p.Cys87Phe, XP_047303640.1:p.Cys87Phe, XP_047303643.1:p.Cys23Phe, XP_047303644.1:p.Cys95Phe, XP_047303647.1:p.Cys23Phe, XP_047303648.1:p.Cys23Phe, XP_047303645.1:p.Cys95Phe, XP_047303646.1:p.Cys95Phe, XP_047303649.1:p.Cys23Phe, XP_047303650.1:p.Cys23Phe

                          13.

                          rs1476583648 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            3:169127936 (GRCh38)
                            3:168845724 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:169127935:A:T
                            Gene:
                            MECOM (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            T=0./0 (KOREAN)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000003.12:g.169127936A>T, NC_000003.11:g.168845724A>T, NG_028279.2:g.540840T>A, NM_004991.4:c.738T>A, NM_004991.3:c.738T>A, NM_001105077.4:c.366T>A, NM_001105077.3:c.366T>A, NM_005241.4:c.174T>A, NM_005241.3:c.174T>A, NM_001105078.4:c.174T>A, NM_001105078.3:c.174T>A, NM_001366467.2:c.174T>A, NM_001366467.1:c.174T>A, NM_001366469.2:c.174T>A, NM_001366469.1:c.174T>A, NM_001366470.2:c.174T>A, NM_001366470.1:c.174T>A, NM_001164000.2:c.174T>A, NM_001164000.1:c.174T>A, NM_001366466.2:c.738T>A, NM_001366466.1:c.738T>A, NM_001205194.2:c.174T>A, NM_001205194.1:c.174T>A, NM_001366472.2:c.174T>A, NM_001366472.1:c.174T>A, NM_001366468.2:c.174T>A, NM_001366468.1:c.174T>A, NM_001163999.2:c.174T>A, NM_001163999.1:c.174T>A, NM_001366471.2:c.174T>A, NM_001366471.1:c.174T>A, NM_001366474.2:c.174T>A, NM_001366474.1:c.174T>A, NM_001366473.2:c.738T>A, NM_001366473.1:c.738T>A, XM_005247213.4:c.738T>A, XM_005247213.3:c.738T>A, XM_005247213.2:c.738T>A, XM_005247213.1:c.738T>A, XM_005247214.4:c.738T>A, XM_005247214.3:c.738T>A, XM_005247214.2:c.738T>A, XM_005247214.1:c.738T>A, XM_011512546.3:c.390T>A, XM_011512546.2:c.390T>A, XM_011512546.1:c.390T>A, XM_005247221.3:c.174T>A, XM_005247221.2:c.174T>A, XM_005247221.1:c.174T>A, XM_047447685.1:c.174T>A, XM_047447677.1:c.414T>A, XM_047447678.1:c.414T>A, XM_047447679.1:c.390T>A, XM_047447681.1:c.366T>A, XM_047447680.1:c.390T>A, XM_047447682.1:c.390T>A, XM_047447686.1:c.174T>A, XM_047447683.1:c.366T>A, XM_047447684.1:c.366T>A, XM_047447687.1:c.174T>A, XM_047447688.1:c.390T>A, XM_047447691.1:c.174T>A, XM_047447692.1:c.174T>A, XM_047447689.1:c.390T>A, XM_047447690.1:c.390T>A, XM_047447693.1:c.174T>A, XM_047447694.1:c.174T>A, NP_004982.2:p.Phe246Leu, NP_001098547.3:p.Phe122Leu, NP_005232.2:p.Phe58Leu, NP_001098548.2:p.Phe58Leu, NP_001353396.1:p.Phe58Leu, NP_001353398.1:p.Phe58Leu, NP_001353399.1:p.Phe58Leu, NP_001157472.1:p.Phe58Leu, NP_001353395.1:p.Phe246Leu, NP_001192123.1:p.Phe58Leu, NP_001353401.1:p.Phe58Leu, NP_001353397.1:p.Phe58Leu, NP_001157471.1:p.Phe58Leu, NP_001353400.1:p.Phe58Leu, NP_001353403.1:p.Phe58Leu, NP_001353402.1:p.Phe246Leu, XP_005247270.1:p.Phe246Leu, XP_005247271.1:p.Phe246Leu, XP_011510848.1:p.Phe130Leu, XP_005247278.1:p.Phe58Leu, XP_047303641.1:p.Phe58Leu, XP_047303633.1:p.Phe138Leu, XP_047303634.1:p.Phe138Leu, XP_047303635.1:p.Phe130Leu, XP_047303637.1:p.Phe122Leu, XP_047303636.1:p.Phe130Leu, XP_047303638.1:p.Phe130Leu, XP_047303642.1:p.Phe58Leu, XP_047303639.1:p.Phe122Leu, XP_047303640.1:p.Phe122Leu, XP_047303643.1:p.Phe58Leu, XP_047303644.1:p.Phe130Leu, XP_047303647.1:p.Phe58Leu, XP_047303648.1:p.Phe58Leu, XP_047303645.1:p.Phe130Leu, XP_047303646.1:p.Phe130Leu, XP_047303649.1:p.Phe58Leu, XP_047303650.1:p.Phe58Leu

                            14.

                            rs1476195463 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              3:169107932 (GRCh38)
                              3:168825720 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:169107931:T:C
                              Gene:
                              MECOM (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000003.12:g.169107932T>C, NC_000003.11:g.168825720T>C, NG_028279.2:g.560844A>G, NM_004991.4:c.2598A>G, NM_004991.3:c.2598A>G, NM_001105077.4:c.2229A>G, NM_001105077.3:c.2229A>G, NM_005241.4:c.2034A>G, NM_005241.3:c.2034A>G, NM_001105078.4:c.2034A>G, NM_001105078.3:c.2034A>G, NM_001366467.2:c.2037A>G, NM_001366467.1:c.2037A>G, NM_001366469.2:c.2034A>G, NM_001366469.1:c.2034A>G, NM_001205194.2:c.2034A>G, NM_001205194.1:c.2034A>G, NM_001366468.2:c.2037A>G, NM_001366468.1:c.2037A>G, XM_005247213.4:c.2601A>G, XM_005247213.3:c.2601A>G, XM_005247213.2:c.2601A>G, XM_005247213.1:c.2601A>G, XM_011512546.3:c.2253A>G, XM_011512546.2:c.2253A>G, XM_011512546.1:c.2253A>G, XM_005247221.3:c.2037A>G, XM_005247221.2:c.2037A>G, XM_005247221.1:c.2037A>G, XM_047447685.1:c.2037A>G, XM_047447677.1:c.2277A>G, XM_047447678.1:c.2274A>G, XM_047447679.1:c.2250A>G, XM_047447681.1:c.2226A>G, XM_047447688.1:c.1278A>G, XM_047447691.1:c.1065A>G, XM_047447692.1:c.1062A>G

                              15.

                              rs1475580175 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A,C [Show Flanks]
                                Chromosome:
                                3:169115474 (GRCh38)
                                3:168833262 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:169115473:T:A,NC_000003.12:169115473:T:C
                                Gene:
                                MECOM (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,stop_gained
                                Clinical significance:
                                likely-pathogenic
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000003.12:g.169115474T>A, NC_000003.12:g.169115474T>C, NC_000003.11:g.168833262T>A, NC_000003.11:g.168833262T>C, NG_028279.2:g.553302A>T, NG_028279.2:g.553302A>G, NM_004991.4:c.2398A>T, NM_004991.4:c.2398A>G, NM_004991.3:c.2398A>T, NM_004991.3:c.2398A>G, NM_001105077.4:c.2029A>T, NM_001105077.4:c.2029A>G, NM_001105077.3:c.2029A>T, NM_001105077.3:c.2029A>G, NM_005241.4:c.1834A>T, NM_005241.4:c.1834A>G, NM_005241.3:c.1834A>T, NM_005241.3:c.1834A>G, NM_001105078.4:c.1834A>T, NM_001105078.4:c.1834A>G, NM_001105078.3:c.1834A>T, NM_001105078.3:c.1834A>G, NM_001366467.2:c.1837A>T, NM_001366467.2:c.1837A>G, NM_001366467.1:c.1837A>T, NM_001366467.1:c.1837A>G, NM_001366469.2:c.1834A>T, NM_001366469.2:c.1834A>G, NM_001366469.1:c.1834A>T, NM_001366469.1:c.1834A>G, NM_001366470.2:c.1837A>T, NM_001366470.2:c.1837A>G, NM_001366470.1:c.1837A>T, NM_001366470.1:c.1837A>G, NM_001164000.2:c.1834A>T, NM_001164000.2:c.1834A>G, NM_001164000.1:c.1834A>T, NM_001164000.1:c.1834A>G, NM_001366466.2:c.2398A>T, NM_001366466.2:c.2398A>G, NM_001366466.1:c.2398A>T, NM_001366466.1:c.2398A>G, NM_001205194.2:c.1834A>T, NM_001205194.2:c.1834A>G, NM_001205194.1:c.1834A>T, NM_001205194.1:c.1834A>G, NM_001366472.2:c.1834A>T, NM_001366472.2:c.1834A>G, NM_001366472.1:c.1834A>T, NM_001366472.1:c.1834A>G, NM_001366468.2:c.1837A>T, NM_001366468.2:c.1837A>G, NM_001366468.1:c.1837A>T, NM_001366468.1:c.1837A>G, NM_001163999.2:c.1837A>T, NM_001163999.2:c.1837A>G, NM_001163999.1:c.1837A>T, NM_001163999.1:c.1837A>G, NM_001366471.2:c.1834A>T, NM_001366471.2:c.1834A>G, NM_001366471.1:c.1834A>T, NM_001366471.1:c.1834A>G, NM_001366474.2:c.862A>T, NM_001366474.2:c.862A>G, NM_001366474.1:c.862A>T, NM_001366474.1:c.862A>G, NM_001366473.2:c.1426A>T, NM_001366473.2:c.1426A>G, NM_001366473.1:c.1426A>T, NM_001366473.1:c.1426A>G, XM_005247213.4:c.2401A>T, XM_005247213.4:c.2401A>G, XM_005247213.3:c.2401A>T, XM_005247213.3:c.2401A>G, XM_005247213.2:c.2401A>T, XM_005247213.2:c.2401A>G, XM_005247213.1:c.2401A>T, XM_005247213.1:c.2401A>G, XM_005247214.4:c.2401A>T, XM_005247214.4:c.2401A>G, XM_005247214.3:c.2401A>T, XM_005247214.3:c.2401A>G, XM_005247214.2:c.2401A>T, XM_005247214.2:c.2401A>G, XM_005247214.1:c.2401A>T, XM_005247214.1:c.2401A>G, XM_011512546.3:c.2053A>T, XM_011512546.3:c.2053A>G, XM_011512546.2:c.2053A>T, XM_011512546.2:c.2053A>G, XM_011512546.1:c.2053A>T, XM_011512546.1:c.2053A>G, XM_005247221.3:c.1837A>T, XM_005247221.3:c.1837A>G, XM_005247221.2:c.1837A>T, XM_005247221.2:c.1837A>G, XM_005247221.1:c.1837A>T, XM_005247221.1:c.1837A>G, XM_047447685.1:c.1837A>T, XM_047447685.1:c.1837A>G, XM_047447677.1:c.2077A>T, XM_047447677.1:c.2077A>G, XM_047447678.1:c.2074A>T, XM_047447678.1:c.2074A>G, XM_047447679.1:c.2050A>T, XM_047447679.1:c.2050A>G, XM_047447681.1:c.2026A>T, XM_047447681.1:c.2026A>G, XM_047447680.1:c.2053A>T, XM_047447680.1:c.2053A>G, XM_047447682.1:c.2050A>T, XM_047447682.1:c.2050A>G, XM_047447686.1:c.1837A>T, XM_047447686.1:c.1837A>G, XM_047447683.1:c.2029A>T, XM_047447683.1:c.2029A>G, XM_047447684.1:c.2026A>T, XM_047447684.1:c.2026A>G, XM_047447687.1:c.1837A>T, XM_047447687.1:c.1837A>G, XM_047447688.1:c.1078A>T, XM_047447688.1:c.1078A>G, XM_047447691.1:c.865A>T, XM_047447691.1:c.865A>G, XM_047447692.1:c.862A>T, XM_047447692.1:c.862A>G, XM_047447689.1:c.1081A>T, XM_047447689.1:c.1081A>G, XM_047447690.1:c.1078A>T, XM_047447690.1:c.1078A>G, XM_047447693.1:c.865A>T, XM_047447693.1:c.865A>G, XM_047447694.1:c.862A>T, XM_047447694.1:c.862A>G, NP_004982.2:p.Lys800Ter, NP_004982.2:p.Lys800Glu, NP_001098547.3:p.Lys677Ter, NP_001098547.3:p.Lys677Glu, NP_005232.2:p.Lys612Ter, NP_005232.2:p.Lys612Glu, NP_001098548.2:p.Lys612Ter, NP_001098548.2:p.Lys612Glu, NP_001353396.1:p.Lys613Ter, NP_001353396.1:p.Lys613Glu, NP_001353398.1:p.Lys612Ter, NP_001353398.1:p.Lys612Glu, NP_001353399.1:p.Lys613Ter, NP_001353399.1:p.Lys613Glu, NP_001157472.1:p.Lys612Ter, NP_001157472.1:p.Lys612Glu, NP_001353395.1:p.Lys800Ter, NP_001353395.1:p.Lys800Glu, NP_001192123.1:p.Lys612Ter, NP_001192123.1:p.Lys612Glu, NP_001353401.1:p.Lys612Ter, NP_001353401.1:p.Lys612Glu, NP_001353397.1:p.Lys613Ter, NP_001353397.1:p.Lys613Glu, NP_001157471.1:p.Lys613Ter, NP_001157471.1:p.Lys613Glu, NP_001353400.1:p.Lys612Ter, NP_001353400.1:p.Lys612Glu, NP_001353403.1:p.Lys288Ter, NP_001353403.1:p.Lys288Glu, NP_001353402.1:p.Lys476Ter, NP_001353402.1:p.Lys476Glu, XP_005247270.1:p.Lys801Ter, XP_005247270.1:p.Lys801Glu, XP_005247271.1:p.Lys801Ter, XP_005247271.1:p.Lys801Glu, XP_011510848.1:p.Lys685Ter, XP_011510848.1:p.Lys685Glu, XP_005247278.1:p.Lys613Ter, XP_005247278.1:p.Lys613Glu, XP_047303641.1:p.Lys613Ter, XP_047303641.1:p.Lys613Glu, XP_047303633.1:p.Lys693Ter, XP_047303633.1:p.Lys693Glu, XP_047303634.1:p.Lys692Ter, XP_047303634.1:p.Lys692Glu, XP_047303635.1:p.Lys684Ter, XP_047303635.1:p.Lys684Glu, XP_047303637.1:p.Lys676Ter, XP_047303637.1:p.Lys676Glu, XP_047303636.1:p.Lys685Ter, XP_047303636.1:p.Lys685Glu, XP_047303638.1:p.Lys684Ter, XP_047303638.1:p.Lys684Glu, XP_047303642.1:p.Lys613Ter, XP_047303642.1:p.Lys613Glu, XP_047303639.1:p.Lys677Ter, XP_047303639.1:p.Lys677Glu, XP_047303640.1:p.Lys676Ter, XP_047303640.1:p.Lys676Glu, XP_047303643.1:p.Lys613Ter, XP_047303643.1:p.Lys613Glu, XP_047303644.1:p.Lys360Ter, XP_047303644.1:p.Lys360Glu, XP_047303647.1:p.Lys289Ter, XP_047303647.1:p.Lys289Glu, XP_047303648.1:p.Lys288Ter, XP_047303648.1:p.Lys288Glu, XP_047303645.1:p.Lys361Ter, XP_047303645.1:p.Lys361Glu, XP_047303646.1:p.Lys360Ter, XP_047303646.1:p.Lys360Glu, XP_047303649.1:p.Lys289Ter, XP_047303649.1:p.Lys289Glu, XP_047303650.1:p.Lys288Ter, XP_047303650.1:p.Lys288Glu

                                16.

                                rs1475397577 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:169116555 (GRCh38)
                                  3:168834343 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:169116554:A:C
                                  Gene:
                                  MECOM (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (GnomAD_exomes)
                                  C=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.169116555A>C, NC_000003.11:g.168834343A>C, NG_028279.2:g.552221T>G, NM_004991.4:c.1317T>G, NM_004991.3:c.1317T>G, NM_001105077.4:c.948T>G, NM_001105077.3:c.948T>G, NM_005241.4:c.753T>G, NM_005241.3:c.753T>G, NM_001105078.4:c.753T>G, NM_001105078.3:c.753T>G, NM_001366467.2:c.756T>G, NM_001366467.1:c.756T>G, NM_001366469.2:c.753T>G, NM_001366469.1:c.753T>G, NM_001366470.2:c.756T>G, NM_001366470.1:c.756T>G, NM_001164000.2:c.753T>G, NM_001164000.1:c.753T>G, NM_001366466.2:c.1317T>G, NM_001366466.1:c.1317T>G, NM_001205194.2:c.753T>G, NM_001205194.1:c.753T>G, NM_001366472.2:c.753T>G, NM_001366472.1:c.753T>G, NM_001366468.2:c.756T>G, NM_001366468.1:c.756T>G, NM_001163999.2:c.756T>G, NM_001163999.1:c.756T>G, NM_001366471.2:c.753T>G, NM_001366471.1:c.753T>G, XM_005247213.4:c.1320T>G, XM_005247213.3:c.1320T>G, XM_005247213.2:c.1320T>G, XM_005247213.1:c.1320T>G, XM_005247214.4:c.1320T>G, XM_005247214.3:c.1320T>G, XM_005247214.2:c.1320T>G, XM_005247214.1:c.1320T>G, XM_011512546.3:c.972T>G, XM_011512546.2:c.972T>G, XM_011512546.1:c.972T>G, XM_005247221.3:c.756T>G, XM_005247221.2:c.756T>G, XM_005247221.1:c.756T>G, XM_047447685.1:c.756T>G, XM_047447677.1:c.996T>G, XM_047447678.1:c.993T>G, XM_047447679.1:c.969T>G, XM_047447681.1:c.945T>G, XM_047447680.1:c.972T>G, XM_047447682.1:c.969T>G, XM_047447686.1:c.756T>G, XM_047447683.1:c.948T>G, XM_047447684.1:c.945T>G, XM_047447687.1:c.756T>G, NP_004982.2:p.Phe439Leu, NP_001098547.3:p.Phe316Leu, NP_005232.2:p.Phe251Leu, NP_001098548.2:p.Phe251Leu, NP_001353396.1:p.Phe252Leu, NP_001353398.1:p.Phe251Leu, NP_001353399.1:p.Phe252Leu, NP_001157472.1:p.Phe251Leu, NP_001353395.1:p.Phe439Leu, NP_001192123.1:p.Phe251Leu, NP_001353401.1:p.Phe251Leu, NP_001353397.1:p.Phe252Leu, NP_001157471.1:p.Phe252Leu, NP_001353400.1:p.Phe251Leu, XP_005247270.1:p.Phe440Leu, XP_005247271.1:p.Phe440Leu, XP_011510848.1:p.Phe324Leu, XP_005247278.1:p.Phe252Leu, XP_047303641.1:p.Phe252Leu, XP_047303633.1:p.Phe332Leu, XP_047303634.1:p.Phe331Leu, XP_047303635.1:p.Phe323Leu, XP_047303637.1:p.Phe315Leu, XP_047303636.1:p.Phe324Leu, XP_047303638.1:p.Phe323Leu, XP_047303642.1:p.Phe252Leu, XP_047303639.1:p.Phe316Leu, XP_047303640.1:p.Phe315Leu, XP_047303643.1:p.Phe252Leu

                                  17.

                                  rs1475143066 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:169089148 (GRCh38)
                                    3:168806936 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:169089147:G:A
                                    Gene:
                                    MECOM (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.169089148G>A, NC_000003.11:g.168806936G>A, NG_028279.2:g.579628C>T, NM_004991.4:c.3437C>T, NM_004991.3:c.3437C>T, NM_001105077.4:c.3068C>T, NM_001105077.3:c.3068C>T, NM_005241.4:c.2873C>T, NM_005241.3:c.2873C>T, NM_001105078.4:c.2873C>T, NM_001105078.3:c.2873C>T, NM_001366467.2:c.2876C>T, NM_001366467.1:c.2876C>T, NM_001366469.2:c.2873C>T, NM_001366469.1:c.2873C>T, NM_001366470.2:c.2849C>T, NM_001366470.1:c.2849C>T, NM_001164000.2:c.2846C>T, NM_001164000.1:c.2846C>T, NM_001366466.2:c.3410C>T, NM_001366466.1:c.3410C>T, NM_001205194.2:c.2873C>T, NM_001205194.1:c.2873C>T, NM_001366472.2:c.2846C>T, NM_001366472.1:c.2846C>T, NM_001366468.2:c.2876C>T, NM_001366468.1:c.2876C>T, NM_001163999.2:c.2849C>T, NM_001163999.1:c.2849C>T, NM_001366471.2:c.2846C>T, NM_001366471.1:c.2846C>T, NM_001366474.2:c.1874C>T, NM_001366474.1:c.1874C>T, NM_001366473.2:c.2438C>T, NM_001366473.1:c.2438C>T, XM_005247213.4:c.3440C>T, XM_005247213.3:c.3440C>T, XM_005247213.2:c.3440C>T, XM_005247213.1:c.3440C>T, XM_005247214.4:c.3413C>T, XM_005247214.3:c.3413C>T, XM_005247214.2:c.3413C>T, XM_005247214.1:c.3413C>T, XM_011512546.3:c.3092C>T, XM_011512546.2:c.3092C>T, XM_011512546.1:c.3092C>T, XM_005247221.3:c.2876C>T, XM_005247221.2:c.2876C>T, XM_005247221.1:c.2876C>T, XM_047447685.1:c.2876C>T, XM_047447677.1:c.3116C>T, XM_047447678.1:c.3113C>T, XM_047447679.1:c.3089C>T, XM_047447681.1:c.3065C>T, XM_047447680.1:c.3065C>T, XM_047447682.1:c.3062C>T, XM_047447686.1:c.2849C>T, XM_047447683.1:c.3041C>T, XM_047447684.1:c.3038C>T, XM_047447687.1:c.2849C>T, XM_047447688.1:c.2117C>T, XM_047447691.1:c.1904C>T, XM_047447692.1:c.1901C>T, XM_047447689.1:c.2093C>T, XM_047447690.1:c.2090C>T, XM_047447693.1:c.1877C>T, XM_047447694.1:c.1874C>T, NP_004982.2:p.Ala1146Val, NP_001098547.3:p.Ala1023Val, NP_005232.2:p.Ala958Val, NP_001098548.2:p.Ala958Val, NP_001353396.1:p.Ala959Val, NP_001353398.1:p.Ala958Val, NP_001353399.1:p.Ala950Val, NP_001157472.1:p.Ala949Val, NP_001353395.1:p.Ala1137Val, NP_001192123.1:p.Ala958Val, NP_001353401.1:p.Ala949Val, NP_001353397.1:p.Ala959Val, NP_001157471.1:p.Ala950Val, NP_001353400.1:p.Ala949Val, NP_001353403.1:p.Ala625Val, NP_001353402.1:p.Ala813Val, XP_005247270.1:p.Ala1147Val, XP_005247271.1:p.Ala1138Val, XP_011510848.1:p.Ala1031Val, XP_005247278.1:p.Ala959Val, XP_047303641.1:p.Ala959Val, XP_047303633.1:p.Ala1039Val, XP_047303634.1:p.Ala1038Val, XP_047303635.1:p.Ala1030Val, XP_047303637.1:p.Ala1022Val, XP_047303636.1:p.Ala1022Val, XP_047303638.1:p.Ala1021Val, XP_047303642.1:p.Ala950Val, XP_047303639.1:p.Ala1014Val, XP_047303640.1:p.Ala1013Val, XP_047303643.1:p.Ala950Val, XP_047303644.1:p.Ala706Val, XP_047303647.1:p.Ala635Val, XP_047303648.1:p.Ala634Val, XP_047303645.1:p.Ala698Val, XP_047303646.1:p.Ala697Val, XP_047303649.1:p.Ala626Val, XP_047303650.1:p.Ala625Val

                                    18.

                                    rs1474838512 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      3:169090141 (GRCh38)
                                      3:168807929 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:169090140:A:G
                                      Gene:
                                      MECOM (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.00003/8 (TOPMED)
                                      HGVS:
                                      NC_000003.12:g.169090141A>G, NC_000003.11:g.168807929A>G, NG_028279.2:g.578635T>C, NM_004991.4:c.3260T>C, NM_004991.3:c.3260T>C, NM_001105077.4:c.2891T>C, NM_001105077.3:c.2891T>C, NM_005241.4:c.2696T>C, NM_005241.3:c.2696T>C, NM_001105078.4:c.2696T>C, NM_001105078.3:c.2696T>C, NM_001366467.2:c.2699T>C, NM_001366467.1:c.2699T>C, NM_001366469.2:c.2696T>C, NM_001366469.1:c.2696T>C, NM_001366470.2:c.2672T>C, NM_001366470.1:c.2672T>C, NM_001164000.2:c.2669T>C, NM_001164000.1:c.2669T>C, NM_001366466.2:c.3233T>C, NM_001366466.1:c.3233T>C, NM_001205194.2:c.2696T>C, NM_001205194.1:c.2696T>C, NM_001366472.2:c.2669T>C, NM_001366472.1:c.2669T>C, NM_001366468.2:c.2699T>C, NM_001366468.1:c.2699T>C, NM_001163999.2:c.2672T>C, NM_001163999.1:c.2672T>C, NM_001366471.2:c.2669T>C, NM_001366471.1:c.2669T>C, NM_001366474.2:c.1697T>C, NM_001366474.1:c.1697T>C, NM_001366473.2:c.2261T>C, NM_001366473.1:c.2261T>C, XM_005247213.4:c.3263T>C, XM_005247213.3:c.3263T>C, XM_005247213.2:c.3263T>C, XM_005247213.1:c.3263T>C, XM_005247214.4:c.3236T>C, XM_005247214.3:c.3236T>C, XM_005247214.2:c.3236T>C, XM_005247214.1:c.3236T>C, XM_011512546.3:c.2915T>C, XM_011512546.2:c.2915T>C, XM_011512546.1:c.2915T>C, XM_005247221.3:c.2699T>C, XM_005247221.2:c.2699T>C, XM_005247221.1:c.2699T>C, XM_047447685.1:c.2699T>C, XM_047447677.1:c.2939T>C, XM_047447678.1:c.2936T>C, XM_047447679.1:c.2912T>C, XM_047447681.1:c.2888T>C, XM_047447680.1:c.2888T>C, XM_047447682.1:c.2885T>C, XM_047447686.1:c.2672T>C, XM_047447683.1:c.2864T>C, XM_047447684.1:c.2861T>C, XM_047447687.1:c.2672T>C, XM_047447688.1:c.1940T>C, XM_047447691.1:c.1727T>C, XM_047447692.1:c.1724T>C, XM_047447689.1:c.1916T>C, XM_047447690.1:c.1913T>C, XM_047447693.1:c.1700T>C, XM_047447694.1:c.1697T>C, NP_004982.2:p.Leu1087Ser, NP_001098547.3:p.Leu964Ser, NP_005232.2:p.Leu899Ser, NP_001098548.2:p.Leu899Ser, NP_001353396.1:p.Leu900Ser, NP_001353398.1:p.Leu899Ser, NP_001353399.1:p.Leu891Ser, NP_001157472.1:p.Leu890Ser, NP_001353395.1:p.Leu1078Ser, NP_001192123.1:p.Leu899Ser, NP_001353401.1:p.Leu890Ser, NP_001353397.1:p.Leu900Ser, NP_001157471.1:p.Leu891Ser, NP_001353400.1:p.Leu890Ser, NP_001353403.1:p.Leu566Ser, NP_001353402.1:p.Leu754Ser, XP_005247270.1:p.Leu1088Ser, XP_005247271.1:p.Leu1079Ser, XP_011510848.1:p.Leu972Ser, XP_005247278.1:p.Leu900Ser, XP_047303641.1:p.Leu900Ser, XP_047303633.1:p.Leu980Ser, XP_047303634.1:p.Leu979Ser, XP_047303635.1:p.Leu971Ser, XP_047303637.1:p.Leu963Ser, XP_047303636.1:p.Leu963Ser, XP_047303638.1:p.Leu962Ser, XP_047303642.1:p.Leu891Ser, XP_047303639.1:p.Leu955Ser, XP_047303640.1:p.Leu954Ser, XP_047303643.1:p.Leu891Ser, XP_047303644.1:p.Leu647Ser, XP_047303647.1:p.Leu576Ser, XP_047303648.1:p.Leu575Ser, XP_047303645.1:p.Leu639Ser, XP_047303646.1:p.Leu638Ser, XP_047303649.1:p.Leu567Ser, XP_047303650.1:p.Leu566Ser

                                      19.

                                      rs1473620768 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        3:169116186 (GRCh38)
                                        3:168833974 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:169116185:C:A
                                        Gene:
                                        MECOM (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000003.12:g.169116186C>A, NC_000003.11:g.168833974C>A, NG_028279.2:g.552590G>T, NM_004991.4:c.1686G>T, NM_004991.3:c.1686G>T, NM_001105077.4:c.1317G>T, NM_001105077.3:c.1317G>T, NM_005241.4:c.1122G>T, NM_005241.3:c.1122G>T, NM_001105078.4:c.1122G>T, NM_001105078.3:c.1122G>T, NM_001366467.2:c.1125G>T, NM_001366467.1:c.1125G>T, NM_001366469.2:c.1122G>T, NM_001366469.1:c.1122G>T, NM_001366470.2:c.1125G>T, NM_001366470.1:c.1125G>T, NM_001164000.2:c.1122G>T, NM_001164000.1:c.1122G>T, NM_001366466.2:c.1686G>T, NM_001366466.1:c.1686G>T, NM_001205194.2:c.1122G>T, NM_001205194.1:c.1122G>T, NM_001366472.2:c.1122G>T, NM_001366472.1:c.1122G>T, NM_001366468.2:c.1125G>T, NM_001366468.1:c.1125G>T, NM_001163999.2:c.1125G>T, NM_001163999.1:c.1125G>T, NM_001366471.2:c.1122G>T, NM_001366471.1:c.1122G>T, XM_005247213.4:c.1689G>T, XM_005247213.3:c.1689G>T, XM_005247213.2:c.1689G>T, XM_005247213.1:c.1689G>T, XM_005247214.4:c.1689G>T, XM_005247214.3:c.1689G>T, XM_005247214.2:c.1689G>T, XM_005247214.1:c.1689G>T, XM_011512546.3:c.1341G>T, XM_011512546.2:c.1341G>T, XM_011512546.1:c.1341G>T, XM_005247221.3:c.1125G>T, XM_005247221.2:c.1125G>T, XM_005247221.1:c.1125G>T, XM_047447685.1:c.1125G>T, XM_047447677.1:c.1365G>T, XM_047447678.1:c.1362G>T, XM_047447679.1:c.1338G>T, XM_047447681.1:c.1314G>T, XM_047447680.1:c.1341G>T, XM_047447682.1:c.1338G>T, XM_047447686.1:c.1125G>T, XM_047447683.1:c.1317G>T, XM_047447684.1:c.1314G>T, XM_047447687.1:c.1125G>T, NP_004982.2:p.Glu562Asp, NP_001098547.3:p.Glu439Asp, NP_005232.2:p.Glu374Asp, NP_001098548.2:p.Glu374Asp, NP_001353396.1:p.Glu375Asp, NP_001353398.1:p.Glu374Asp, NP_001353399.1:p.Glu375Asp, NP_001157472.1:p.Glu374Asp, NP_001353395.1:p.Glu562Asp, NP_001192123.1:p.Glu374Asp, NP_001353401.1:p.Glu374Asp, NP_001353397.1:p.Glu375Asp, NP_001157471.1:p.Glu375Asp, NP_001353400.1:p.Glu374Asp, XP_005247270.1:p.Glu563Asp, XP_005247271.1:p.Glu563Asp, XP_011510848.1:p.Glu447Asp, XP_005247278.1:p.Glu375Asp, XP_047303641.1:p.Glu375Asp, XP_047303633.1:p.Glu455Asp, XP_047303634.1:p.Glu454Asp, XP_047303635.1:p.Glu446Asp, XP_047303637.1:p.Glu438Asp, XP_047303636.1:p.Glu447Asp, XP_047303638.1:p.Glu446Asp, XP_047303642.1:p.Glu375Asp, XP_047303639.1:p.Glu439Asp, XP_047303640.1:p.Glu438Asp, XP_047303643.1:p.Glu375Asp

                                        20.

                                        rs1472979880 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:169090167 (GRCh38)
                                          3:168807955 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:169090166:A:G
                                          Gene:
                                          MECOM (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_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_000003.12:g.169090167A>G, NC_000003.11:g.168807955A>G, NG_028279.2:g.578609T>C, NM_004991.4:c.3234T>C, NM_004991.3:c.3234T>C, NM_001105077.4:c.2865T>C, NM_001105077.3:c.2865T>C, NM_005241.4:c.2670T>C, NM_005241.3:c.2670T>C, NM_001105078.4:c.2670T>C, NM_001105078.3:c.2670T>C, NM_001366467.2:c.2673T>C, NM_001366467.1:c.2673T>C, NM_001366469.2:c.2670T>C, NM_001366469.1:c.2670T>C, NM_001366470.2:c.2646T>C, NM_001366470.1:c.2646T>C, NM_001164000.2:c.2643T>C, NM_001164000.1:c.2643T>C, NM_001366466.2:c.3207T>C, NM_001366466.1:c.3207T>C, NM_001205194.2:c.2670T>C, NM_001205194.1:c.2670T>C, NM_001366472.2:c.2643T>C, NM_001366472.1:c.2643T>C, NM_001366468.2:c.2673T>C, NM_001366468.1:c.2673T>C, NM_001163999.2:c.2646T>C, NM_001163999.1:c.2646T>C, NM_001366471.2:c.2643T>C, NM_001366471.1:c.2643T>C, NM_001366474.2:c.1671T>C, NM_001366474.1:c.1671T>C, NM_001366473.2:c.2235T>C, NM_001366473.1:c.2235T>C, XM_005247213.4:c.3237T>C, XM_005247213.3:c.3237T>C, XM_005247213.2:c.3237T>C, XM_005247213.1:c.3237T>C, XM_005247214.4:c.3210T>C, XM_005247214.3:c.3210T>C, XM_005247214.2:c.3210T>C, XM_005247214.1:c.3210T>C, XM_011512546.3:c.2889T>C, XM_011512546.2:c.2889T>C, XM_011512546.1:c.2889T>C, XM_005247221.3:c.2673T>C, XM_005247221.2:c.2673T>C, XM_005247221.1:c.2673T>C, XM_047447685.1:c.2673T>C, XM_047447677.1:c.2913T>C, XM_047447678.1:c.2910T>C, XM_047447679.1:c.2886T>C, XM_047447681.1:c.2862T>C, XM_047447680.1:c.2862T>C, XM_047447682.1:c.2859T>C, XM_047447686.1:c.2646T>C, XM_047447683.1:c.2838T>C, XM_047447684.1:c.2835T>C, XM_047447687.1:c.2646T>C, XM_047447688.1:c.1914T>C, XM_047447691.1:c.1701T>C, XM_047447692.1:c.1698T>C, XM_047447689.1:c.1890T>C, XM_047447690.1:c.1887T>C, XM_047447693.1:c.1674T>C, XM_047447694.1:c.1671T>C

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