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Items: 1 to 20 of 585

1.

rs1490420532 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    8:24335597 (GRCh38)
    8:24193110 (GRCh37)
    Canonical SPDI:
    NC_000008.11:24335596:C:T
    Gene:
    ADAM28 (Varview), ADAM7-AS1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.24335597C>T, NC_000008.10:g.24193110C>T, NG_029394.2:g.46531C>T, NM_014265.6:c.1523C>T, NM_014265.5:c.1523C>T, NM_014265.4:c.1523C>T, NM_021777.5:c.1523C>T, NM_021777.4:c.1523C>T, NM_021777.3:c.1523C>T, NR_130710.2:n.1666C>T, NR_130710.1:n.1695C>T, NM_001304351.2:c.1523C>T, NM_001304351.1:c.1523C>T, NR_130709.2:n.1411C>T, NR_130709.1:n.1440C>T, XM_005273380.5:c.1523C>T, XM_005273380.4:c.1523C>T, XM_005273380.3:c.1523C>T, XM_005273380.2:c.1523C>T, XM_005273380.1:c.1523C>T, XM_006716273.4:c.1523C>T, XM_006716273.3:c.1523C>T, XM_006716273.2:c.1523C>T, XM_006716273.1:c.1523C>T, XM_011544368.4:c.1523C>T, XM_011544368.3:c.1523C>T, XM_011544368.2:c.1523C>T, XM_011544368.1:c.1523C>T, XM_011544367.4:c.1523C>T, XM_011544367.3:c.1523C>T, XM_011544367.2:c.1523C>T, XM_011544367.1:c.1523C>T, XM_011544371.4:c.764C>T, XM_011544371.3:c.764C>T, XM_011544371.2:c.764C>T, XM_011544371.1:c.764C>T, XM_017012974.3:c.1523C>T, XM_017012974.2:c.1523C>T, XM_017012974.1:c.1523C>T, XM_017012975.3:c.1523C>T, XM_017012975.2:c.1523C>T, XM_017012975.1:c.1523C>T, XM_011544369.3:c.1523C>T, XM_011544369.2:c.1523C>T, XM_011544369.1:c.1523C>T, XM_006716274.2:c.1523C>T, XM_006716274.1:c.1523C>T, XM_005273382.2:c.1523C>T, XM_005273382.1:c.1523C>T, XM_047421272.1:c.1343C>T, XM_047421273.1:c.824C>T, XM_047421274.1:c.593C>T, XM_047421270.1:c.1523C>T, XM_047421271.1:c.1523C>T, NM_021778.1:c.1523C>T, NP_055080.2:p.Thr508Ile, NP_068547.2:p.Thr508Ile, NP_001291280.1:p.Thr508Ile, XP_005273437.1:p.Thr508Ile, XP_006716336.1:p.Thr508Ile, XP_011542670.1:p.Thr508Ile, XP_011542669.1:p.Thr508Ile, XP_011542673.1:p.Thr255Ile, XP_016868463.1:p.Thr508Ile, XP_016868464.1:p.Thr508Ile, XP_011542671.1:p.Thr508Ile, XP_006716337.1:p.Thr508Ile, XP_005273439.1:p.Thr508Ile, XP_047277228.1:p.Thr448Ile, XP_047277229.1:p.Thr275Ile, XP_047277230.1:p.Thr198Ile, XP_047277226.1:p.Thr508Ile, XP_047277227.1:p.Thr508Ile
    2.

    rs1488985028 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:24351253 (GRCh38)
      8:24208766 (GRCh37)
      Canonical SPDI:
      NC_000008.11:24351252:C:T
      Gene:
      ADAM28 (Varview), ADAM7-AS1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,stop_gained,synonymous_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000008.11:g.24351253C>T, NC_000008.10:g.24208766C>T, NG_029394.2:g.62187C>T, NM_014265.6:c.2121C>T, NM_014265.5:c.2121C>T, NM_014265.4:c.2121C>T, NR_130710.2:n.2268C>T, NR_130710.1:n.2297C>T, NM_001304351.2:c.2121C>T, NM_001304351.1:c.2121C>T, XM_005273380.5:c.2125C>T, XM_005273380.4:c.2125C>T, XM_005273380.3:c.2125C>T, XM_005273380.2:c.2125C>T, XM_005273380.1:c.2125C>T, XM_006716273.4:c.2121C>T, XM_006716273.3:c.2121C>T, XM_006716273.2:c.2121C>T, XM_006716273.1:c.2121C>T, XM_011544368.4:c.2125C>T, XM_011544368.3:c.2125C>T, XM_011544368.2:c.2125C>T, XM_011544368.1:c.2125C>T, XM_011544367.4:c.2121C>T, XM_011544367.3:c.2121C>T, XM_011544367.2:c.2121C>T, XM_011544367.1:c.2121C>T, XM_011544371.4:c.1362C>T, XM_011544371.3:c.1362C>T, XM_011544371.2:c.1362C>T, XM_011544371.1:c.1362C>T, XM_017012974.3:c.2125C>T, XM_017012974.2:c.2125C>T, XM_017012974.1:c.2125C>T, XM_017012975.3:c.2121C>T, XM_017012975.2:c.2121C>T, XM_017012975.1:c.2121C>T, XM_006716274.2:c.2125C>T, XM_006716274.1:c.2125C>T, XM_047421272.1:c.1941C>T, XM_047421273.1:c.1422C>T, XM_047421274.1:c.1191C>T, XM_047421270.1:c.2125C>T, XM_047421271.1:c.*65C>T, NM_021778.1:c.2121C>T, XP_005273437.1:p.Gln709Ter, XP_011542670.1:p.Gln709Ter, XP_016868463.1:p.Gln709Ter, XP_006716337.1:p.Gln709Ter, XP_047277226.1:p.Gln709Ter
      3.

      rs1488805715 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        8:24335632 (GRCh38)
        8:24193145 (GRCh37)
        Canonical SPDI:
        NC_000008.11:24335631:T:G
        Gene:
        ADAM28 (Varview), ADAM7-AS1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000008/2 (TOPMED)
        G=0.000014/2 (GnomAD)
        HGVS:
        NC_000008.11:g.24335632T>G, NC_000008.10:g.24193145T>G, NG_029394.2:g.46566T>G, NM_014265.6:c.1558T>G, NM_014265.5:c.1558T>G, NM_014265.4:c.1558T>G, NM_021777.5:c.1558T>G, NM_021777.4:c.1558T>G, NM_021777.3:c.1558T>G, NR_130710.2:n.1701T>G, NR_130710.1:n.1730T>G, NM_001304351.2:c.1558T>G, NM_001304351.1:c.1558T>G, NR_130709.2:n.1446T>G, NR_130709.1:n.1475T>G, XM_005273380.5:c.1558T>G, XM_005273380.4:c.1558T>G, XM_005273380.3:c.1558T>G, XM_005273380.2:c.1558T>G, XM_005273380.1:c.1558T>G, XM_006716273.4:c.1558T>G, XM_006716273.3:c.1558T>G, XM_006716273.2:c.1558T>G, XM_006716273.1:c.1558T>G, XM_011544368.4:c.1558T>G, XM_011544368.3:c.1558T>G, XM_011544368.2:c.1558T>G, XM_011544368.1:c.1558T>G, XM_011544367.4:c.1558T>G, XM_011544367.3:c.1558T>G, XM_011544367.2:c.1558T>G, XM_011544367.1:c.1558T>G, XM_011544371.4:c.799T>G, XM_011544371.3:c.799T>G, XM_011544371.2:c.799T>G, XM_011544371.1:c.799T>G, XM_017012974.3:c.1558T>G, XM_017012974.2:c.1558T>G, XM_017012974.1:c.1558T>G, XM_017012975.3:c.1558T>G, XM_017012975.2:c.1558T>G, XM_017012975.1:c.1558T>G, XM_011544369.3:c.1558T>G, XM_011544369.2:c.1558T>G, XM_011544369.1:c.1558T>G, XM_006716274.2:c.1558T>G, XM_006716274.1:c.1558T>G, XM_005273382.2:c.1558T>G, XM_005273382.1:c.1558T>G, XM_047421272.1:c.1378T>G, XM_047421273.1:c.859T>G, XM_047421274.1:c.628T>G, XM_047421270.1:c.1558T>G, XM_047421271.1:c.1558T>G, NM_021778.1:c.1558T>G, NP_055080.2:p.Trp520Gly, NP_068547.2:p.Trp520Gly, NP_001291280.1:p.Trp520Gly, XP_005273437.1:p.Trp520Gly, XP_006716336.1:p.Trp520Gly, XP_011542670.1:p.Trp520Gly, XP_011542669.1:p.Trp520Gly, XP_011542673.1:p.Trp267Gly, XP_016868463.1:p.Trp520Gly, XP_016868464.1:p.Trp520Gly, XP_011542671.1:p.Trp520Gly, XP_006716337.1:p.Trp520Gly, XP_005273439.1:p.Trp520Gly, XP_047277228.1:p.Trp460Gly, XP_047277229.1:p.Trp287Gly, XP_047277230.1:p.Trp210Gly, XP_047277226.1:p.Trp520Gly, XP_047277227.1:p.Trp520Gly
        4.

        rs1483949571 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->GATAATTATATTAAT [Show Flanks]
          Chromosome:
          8:24349970 (GRCh38)
          8:24207484 (GRCh37)
          Canonical SPDI:
          NC_000008.11:24349970::GATAATTATATTAAT
          Gene:
          ADAM28 (Varview), ADAM7-AS1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,inframe_indel,stop_gained,genic_downstream_transcript_variant,inframe_insertion,3_prime_UTR_variant,coding_sequence_variant,intron_variant
          HGVS:
          NC_000008.11:g.24349970_24349971insGATAATTATATTAAT, NC_000008.10:g.24207483_24207484insGATAATTATATTAAT, NG_029394.2:g.60904_60905insGATAATTATATTAAT, NM_014265.6:c.2097_2098insGATAATTATATTAAT, NM_014265.5:c.2097_2098insGATAATTATATTAAT, NM_014265.4:c.2097_2098insGATAATTATATTAAT, NR_130710.2:n.2244_2245insGATAATTATATTAAT, NR_130710.1:n.2273_2274insGATAATTATATTAAT, NM_001304351.2:c.2097_2098insGATAATTATATTAAT, NM_001304351.1:c.2097_2098insGATAATTATATTAAT, XM_005273380.5:c.2101_2102insGATAATTATATTAAT, XM_005273380.4:c.2101_2102insGATAATTATATTAAT, XM_005273380.3:c.2101_2102insGATAATTATATTAAT, XM_005273380.2:c.2101_2102insGATAATTATATTAAT, XM_005273380.1:c.2101_2102insGATAATTATATTAAT, XM_006716273.4:c.2097_2098insGATAATTATATTAAT, XM_006716273.3:c.2097_2098insGATAATTATATTAAT, XM_006716273.2:c.2097_2098insGATAATTATATTAAT, XM_006716273.1:c.2097_2098insGATAATTATATTAAT, XM_011544368.4:c.2101_2102insGATAATTATATTAAT, XM_011544368.3:c.2101_2102insGATAATTATATTAAT, XM_011544368.2:c.2101_2102insGATAATTATATTAAT, XM_011544368.1:c.2101_2102insGATAATTATATTAAT, XM_011544367.4:c.2097_2098insGATAATTATATTAAT, XM_011544367.3:c.2097_2098insGATAATTATATTAAT, XM_011544367.2:c.2097_2098insGATAATTATATTAAT, XM_011544367.1:c.2097_2098insGATAATTATATTAAT, XM_011544371.4:c.1338_1339insGATAATTATATTAAT, XM_011544371.3:c.1338_1339insGATAATTATATTAAT, XM_011544371.2:c.1338_1339insGATAATTATATTAAT, XM_011544371.1:c.1338_1339insGATAATTATATTAAT, XM_017012974.3:c.2101_2102insGATAATTATATTAAT, XM_017012974.2:c.2101_2102insGATAATTATATTAAT, XM_017012974.1:c.2101_2102insGATAATTATATTAAT, XM_017012975.3:c.2097_2098insGATAATTATATTAAT, XM_017012975.2:c.2097_2098insGATAATTATATTAAT, XM_017012975.1:c.2097_2098insGATAATTATATTAAT, XM_006716274.2:c.2101_2102insGATAATTATATTAAT, XM_006716274.1:c.2101_2102insGATAATTATATTAAT, XM_047421272.1:c.1917_1918insGATAATTATATTAAT, XM_047421273.1:c.1398_1399insGATAATTATATTAAT, XM_047421274.1:c.1167_1168insGATAATTATATTAAT, XM_047421270.1:c.2101_2102insGATAATTATATTAAT, XM_047421271.1:c.*41_*42insGATAATTATATTAAT, NM_021778.1:c.2097_2098insGATAATTATATTAAT, NP_055080.2:p.Arg700_Pro701insAspAsnTyrIleAsn, NP_001291280.1:p.Arg700_Pro701insAspAsnTyrIleAsn, XP_005273437.1:p.Glu701delinsGlyTer, XP_006716336.1:p.Arg700_Pro701insAspAsnTyrIleAsn, XP_011542670.1:p.Glu701delinsGlyTer, XP_011542669.1:p.Arg700_Pro701insAspAsnTyrIleAsn, XP_011542673.1:p.Arg447_Pro448insAspAsnTyrIleAsn, XP_016868463.1:p.Glu701delinsGlyTer, XP_016868464.1:p.Arg700_Pro701insAspAsnTyrIleAsn, XP_006716337.1:p.Glu701delinsGlyTer, XP_047277228.1:p.Arg640_Pro641insAspAsnTyrIleAsn, XP_047277229.1:p.Arg467_Pro468insAspAsnTyrIleAsn, XP_047277230.1:p.Arg390_Pro391insAspAsnTyrIleAsn, XP_047277226.1:p.Glu701delinsGlyTer
          5.

          rs1483058884 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            8:24326632 (GRCh38)
            8:24184146 (GRCh37)
            Canonical SPDI:
            NC_000008.11:24326632:C:CC
            Gene:
            ADAM28 (Varview), ADAM7-AS1 (Varview)
            Functional Consequence:
            frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.24326633dup, NC_000008.10:g.24184146dup, NG_029394.2:g.37567dup, NM_014265.6:c.970dup, NM_014265.5:c.970dup, NM_014265.4:c.970dup, NM_021777.5:c.970dup, NM_021777.4:c.970dup, NM_021777.3:c.970dup, NR_130710.2:n.1113dup, NR_130710.1:n.1142dup, NM_001304351.2:c.970dup, NM_001304351.1:c.970dup, NR_130709.2:n.858dup, NR_130709.1:n.887dup, XM_005273380.5:c.970dup, XM_005273380.4:c.970dup, XM_005273380.3:c.970dup, XM_005273380.2:c.970dup, XM_005273380.1:c.970dup, XM_006716273.4:c.970dup, XM_006716273.3:c.970dup, XM_006716273.2:c.970dup, XM_006716273.1:c.970dup, XM_011544368.4:c.970dup, XM_011544368.3:c.970dup, XM_011544368.2:c.970dup, XM_011544368.1:c.970dup, XM_011544367.4:c.970dup, XM_011544367.3:c.970dup, XM_011544367.2:c.970dup, XM_011544367.1:c.970dup, XM_011544371.4:c.211dup, XM_011544371.3:c.211dup, XM_011544371.2:c.211dup, XM_011544371.1:c.211dup, XM_017012974.3:c.970dup, XM_017012974.2:c.970dup, XM_017012974.1:c.970dup, XM_017012975.3:c.970dup, XM_017012975.2:c.970dup, XM_017012975.1:c.970dup, XM_011544369.3:c.970dup, XM_011544369.2:c.970dup, XM_011544369.1:c.970dup, XM_006716274.2:c.970dup, XM_006716274.1:c.970dup, XM_005273382.2:c.970dup, XM_005273382.1:c.970dup, XM_047421272.1:c.790dup, XM_047421273.1:c.271dup, XM_047421274.1:c.40dup, XM_047421270.1:c.970dup, XM_047421271.1:c.970dup, NM_021778.1:c.970dup, NP_055080.2:p.Gln324fs, NP_068547.2:p.Gln324fs, NP_001291280.1:p.Gln324fs, XP_005273437.1:p.Gln324fs, XP_006716336.1:p.Gln324fs, XP_011542670.1:p.Gln324fs, XP_011542669.1:p.Gln324fs, XP_011542673.1:p.Gln71fs, XP_016868463.1:p.Gln324fs, XP_016868464.1:p.Gln324fs, XP_011542671.1:p.Gln324fs, XP_006716337.1:p.Gln324fs, XP_005273439.1:p.Gln324fs, XP_047277228.1:p.Gln264fs, XP_047277229.1:p.Gln91fs, XP_047277230.1:p.Gln14fs, XP_047277226.1:p.Gln324fs, XP_047277227.1:p.Gln324fs
            6.

            rs1482142183 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:24326561 (GRCh38)
              8:24184074 (GRCh37)
              Canonical SPDI:
              NC_000008.11:24326560:G:A
              Gene:
              ADAM28 (Varview), ADAM7-AS1 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000008/2 (GnomAD_exomes)
              A=0.000019/5 (TOPMED)
              A=0.000021/3 (GnomAD)
              HGVS:
              NC_000008.11:g.24326561G>A, NC_000008.10:g.24184074G>A, NG_029394.2:g.37495G>A, NM_014265.6:c.898G>A, NM_014265.5:c.898G>A, NM_014265.4:c.898G>A, NM_021777.5:c.898G>A, NM_021777.4:c.898G>A, NM_021777.3:c.898G>A, NR_130710.2:n.1041G>A, NR_130710.1:n.1070G>A, NM_001304351.2:c.898G>A, NM_001304351.1:c.898G>A, NR_130709.2:n.786G>A, NR_130709.1:n.815G>A, XM_005273380.5:c.898G>A, XM_005273380.4:c.898G>A, XM_005273380.3:c.898G>A, XM_005273380.2:c.898G>A, XM_005273380.1:c.898G>A, XM_006716273.4:c.898G>A, XM_006716273.3:c.898G>A, XM_006716273.2:c.898G>A, XM_006716273.1:c.898G>A, XM_011544368.4:c.898G>A, XM_011544368.3:c.898G>A, XM_011544368.2:c.898G>A, XM_011544368.1:c.898G>A, XM_011544367.4:c.898G>A, XM_011544367.3:c.898G>A, XM_011544367.2:c.898G>A, XM_011544367.1:c.898G>A, XM_011544371.4:c.139G>A, XM_011544371.3:c.139G>A, XM_011544371.2:c.139G>A, XM_011544371.1:c.139G>A, XM_017012974.3:c.898G>A, XM_017012974.2:c.898G>A, XM_017012974.1:c.898G>A, XM_017012975.3:c.898G>A, XM_017012975.2:c.898G>A, XM_017012975.1:c.898G>A, XM_011544369.3:c.898G>A, XM_011544369.2:c.898G>A, XM_011544369.1:c.898G>A, XM_006716274.2:c.898G>A, XM_006716274.1:c.898G>A, XM_005273382.2:c.898G>A, XM_005273382.1:c.898G>A, XM_047421272.1:c.718G>A, XM_047421273.1:c.199G>A, XM_047421274.1:c.-33G>A, XM_047421270.1:c.898G>A, XM_047421271.1:c.898G>A, NM_021778.1:c.898G>A, NP_055080.2:p.Glu300Lys, NP_068547.2:p.Glu300Lys, NP_001291280.1:p.Glu300Lys, XP_005273437.1:p.Glu300Lys, XP_006716336.1:p.Glu300Lys, XP_011542670.1:p.Glu300Lys, XP_011542669.1:p.Glu300Lys, XP_011542673.1:p.Glu47Lys, XP_016868463.1:p.Glu300Lys, XP_016868464.1:p.Glu300Lys, XP_011542671.1:p.Glu300Lys, XP_006716337.1:p.Glu300Lys, XP_005273439.1:p.Glu300Lys, XP_047277228.1:p.Glu240Lys, XP_047277229.1:p.Glu67Lys, XP_047277226.1:p.Glu300Lys, XP_047277227.1:p.Glu300Lys
              7.

              rs1480239708 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,T [Show Flanks]
                Chromosome:
                8:24332733 (GRCh38)
                8:24190246 (GRCh37)
                Canonical SPDI:
                NC_000008.11:24332732:G:A,NC_000008.11:24332732:G:T
                Gene:
                ADAM28 (Varview), ADAM7-AS1 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                HGVS:
                NC_000008.11:g.24332733G>A, NC_000008.11:g.24332733G>T, NC_000008.10:g.24190246G>A, NC_000008.10:g.24190246G>T, NG_029394.2:g.43667G>A, NG_029394.2:g.43667G>T, NM_014265.6:c.1355G>A, NM_014265.6:c.1355G>T, NM_014265.5:c.1355G>A, NM_014265.5:c.1355G>T, NM_014265.4:c.1355G>A, NM_014265.4:c.1355G>T, NM_021777.5:c.1355G>A, NM_021777.5:c.1355G>T, NM_021777.4:c.1355G>A, NM_021777.4:c.1355G>T, NM_021777.3:c.1355G>A, NM_021777.3:c.1355G>T, NR_130710.2:n.1498G>A, NR_130710.2:n.1498G>T, NR_130710.1:n.1527G>A, NR_130710.1:n.1527G>T, NM_001304351.2:c.1355G>A, NM_001304351.2:c.1355G>T, NM_001304351.1:c.1355G>A, NM_001304351.1:c.1355G>T, NR_130709.2:n.1243G>A, NR_130709.2:n.1243G>T, NR_130709.1:n.1272G>A, NR_130709.1:n.1272G>T, XM_005273380.5:c.1355G>A, XM_005273380.5:c.1355G>T, XM_005273380.4:c.1355G>A, XM_005273380.4:c.1355G>T, XM_005273380.3:c.1355G>A, XM_005273380.3:c.1355G>T, XM_005273380.2:c.1355G>A, XM_005273380.2:c.1355G>T, XM_005273380.1:c.1355G>A, XM_005273380.1:c.1355G>T, XM_006716273.4:c.1355G>A, XM_006716273.4:c.1355G>T, XM_006716273.3:c.1355G>A, XM_006716273.3:c.1355G>T, XM_006716273.2:c.1355G>A, XM_006716273.2:c.1355G>T, XM_006716273.1:c.1355G>A, XM_006716273.1:c.1355G>T, XM_011544368.4:c.1355G>A, XM_011544368.4:c.1355G>T, XM_011544368.3:c.1355G>A, XM_011544368.3:c.1355G>T, XM_011544368.2:c.1355G>A, XM_011544368.2:c.1355G>T, XM_011544368.1:c.1355G>A, XM_011544368.1:c.1355G>T, XM_011544367.4:c.1355G>A, XM_011544367.4:c.1355G>T, XM_011544367.3:c.1355G>A, XM_011544367.3:c.1355G>T, XM_011544367.2:c.1355G>A, XM_011544367.2:c.1355G>T, XM_011544367.1:c.1355G>A, XM_011544367.1:c.1355G>T, XM_011544371.4:c.596G>A, XM_011544371.4:c.596G>T, XM_011544371.3:c.596G>A, XM_011544371.3:c.596G>T, XM_011544371.2:c.596G>A, XM_011544371.2:c.596G>T, XM_011544371.1:c.596G>A, XM_011544371.1:c.596G>T, XM_017012974.3:c.1355G>A, XM_017012974.3:c.1355G>T, XM_017012974.2:c.1355G>A, XM_017012974.2:c.1355G>T, XM_017012974.1:c.1355G>A, XM_017012974.1:c.1355G>T, XM_017012975.3:c.1355G>A, XM_017012975.3:c.1355G>T, XM_017012975.2:c.1355G>A, XM_017012975.2:c.1355G>T, XM_017012975.1:c.1355G>A, XM_017012975.1:c.1355G>T, XM_011544369.3:c.1355G>A, XM_011544369.3:c.1355G>T, XM_011544369.2:c.1355G>A, XM_011544369.2:c.1355G>T, XM_011544369.1:c.1355G>A, XM_011544369.1:c.1355G>T, XM_006716274.2:c.1355G>A, XM_006716274.2:c.1355G>T, XM_006716274.1:c.1355G>A, XM_006716274.1:c.1355G>T, XM_005273382.2:c.1355G>A, XM_005273382.2:c.1355G>T, XM_005273382.1:c.1355G>A, XM_005273382.1:c.1355G>T, XM_047421272.1:c.1175G>A, XM_047421272.1:c.1175G>T, XM_047421273.1:c.656G>A, XM_047421273.1:c.656G>T, XM_047421274.1:c.425G>A, XM_047421274.1:c.425G>T, XM_047421270.1:c.1355G>A, XM_047421270.1:c.1355G>T, XM_047421271.1:c.1355G>A, XM_047421271.1:c.1355G>T, NM_021778.1:c.1355G>A, NM_021778.1:c.1355G>T, NP_055080.2:p.Cys452Tyr, NP_055080.2:p.Cys452Phe, NP_068547.2:p.Cys452Tyr, NP_068547.2:p.Cys452Phe, NP_001291280.1:p.Cys452Tyr, NP_001291280.1:p.Cys452Phe, XP_005273437.1:p.Cys452Tyr, XP_005273437.1:p.Cys452Phe, XP_006716336.1:p.Cys452Tyr, XP_006716336.1:p.Cys452Phe, XP_011542670.1:p.Cys452Tyr, XP_011542670.1:p.Cys452Phe, XP_011542669.1:p.Cys452Tyr, XP_011542669.1:p.Cys452Phe, XP_011542673.1:p.Cys199Tyr, XP_011542673.1:p.Cys199Phe, XP_016868463.1:p.Cys452Tyr, XP_016868463.1:p.Cys452Phe, XP_016868464.1:p.Cys452Tyr, XP_016868464.1:p.Cys452Phe, XP_011542671.1:p.Cys452Tyr, XP_011542671.1:p.Cys452Phe, XP_006716337.1:p.Cys452Tyr, XP_006716337.1:p.Cys452Phe, XP_005273439.1:p.Cys452Tyr, XP_005273439.1:p.Cys452Phe, XP_047277228.1:p.Cys392Tyr, XP_047277228.1:p.Cys392Phe, XP_047277229.1:p.Cys219Tyr, XP_047277229.1:p.Cys219Phe, XP_047277230.1:p.Cys142Tyr, XP_047277230.1:p.Cys142Phe, XP_047277226.1:p.Cys452Tyr, XP_047277226.1:p.Cys452Phe, XP_047277227.1:p.Cys452Tyr, XP_047277227.1:p.Cys452Phe
                8.

                rs1474387319 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  8:24326629 (GRCh38)
                  8:24184142 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:24326628:T:A
                  Gene:
                  ADAM28 (Varview), ADAM7-AS1 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000008.11:g.24326629T>A, NC_000008.10:g.24184142T>A, NG_029394.2:g.37563T>A, NM_014265.6:c.966T>A, NM_014265.5:c.966T>A, NM_014265.4:c.966T>A, NM_021777.5:c.966T>A, NM_021777.4:c.966T>A, NM_021777.3:c.966T>A, NR_130710.2:n.1109T>A, NR_130710.1:n.1138T>A, NM_001304351.2:c.966T>A, NM_001304351.1:c.966T>A, NR_130709.2:n.854T>A, NR_130709.1:n.883T>A, XM_005273380.5:c.966T>A, XM_005273380.4:c.966T>A, XM_005273380.3:c.966T>A, XM_005273380.2:c.966T>A, XM_005273380.1:c.966T>A, XM_006716273.4:c.966T>A, XM_006716273.3:c.966T>A, XM_006716273.2:c.966T>A, XM_006716273.1:c.966T>A, XM_011544368.4:c.966T>A, XM_011544368.3:c.966T>A, XM_011544368.2:c.966T>A, XM_011544368.1:c.966T>A, XM_011544367.4:c.966T>A, XM_011544367.3:c.966T>A, XM_011544367.2:c.966T>A, XM_011544367.1:c.966T>A, XM_011544371.4:c.207T>A, XM_011544371.3:c.207T>A, XM_011544371.2:c.207T>A, XM_011544371.1:c.207T>A, XM_017012974.3:c.966T>A, XM_017012974.2:c.966T>A, XM_017012974.1:c.966T>A, XM_017012975.3:c.966T>A, XM_017012975.2:c.966T>A, XM_017012975.1:c.966T>A, XM_011544369.3:c.966T>A, XM_011544369.2:c.966T>A, XM_011544369.1:c.966T>A, XM_006716274.2:c.966T>A, XM_006716274.1:c.966T>A, XM_005273382.2:c.966T>A, XM_005273382.1:c.966T>A, XM_047421272.1:c.786T>A, XM_047421273.1:c.267T>A, XM_047421274.1:c.36T>A, XM_047421270.1:c.966T>A, XM_047421271.1:c.966T>A, NM_021778.1:c.966T>A
                  9.

                  rs1474160617 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    8:24330108 (GRCh38)
                    8:24187621 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:24330107:G:T
                    Gene:
                    ADAM28 (Varview), ADAM7-AS1 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000011/3 (TOPMED)
                    T=0.000021/3 (GnomAD)
                    HGVS:
                    NC_000008.11:g.24330108G>T, NC_000008.10:g.24187621G>T, NG_029394.2:g.41042G>T, NM_014265.6:c.1096G>T, NM_014265.5:c.1096G>T, NM_014265.4:c.1096G>T, NM_021777.5:c.1096G>T, NM_021777.4:c.1096G>T, NM_021777.3:c.1096G>T, NR_130710.2:n.1239G>T, NR_130710.1:n.1268G>T, NM_001304351.2:c.1096G>T, NM_001304351.1:c.1096G>T, NR_130709.2:n.984G>T, NR_130709.1:n.1013G>T, XM_005273380.5:c.1096G>T, XM_005273380.4:c.1096G>T, XM_005273380.3:c.1096G>T, XM_005273380.2:c.1096G>T, XM_005273380.1:c.1096G>T, XM_006716273.4:c.1096G>T, XM_006716273.3:c.1096G>T, XM_006716273.2:c.1096G>T, XM_006716273.1:c.1096G>T, XM_011544368.4:c.1096G>T, XM_011544368.3:c.1096G>T, XM_011544368.2:c.1096G>T, XM_011544368.1:c.1096G>T, XM_011544367.4:c.1096G>T, XM_011544367.3:c.1096G>T, XM_011544367.2:c.1096G>T, XM_011544367.1:c.1096G>T, XM_011544371.4:c.337G>T, XM_011544371.3:c.337G>T, XM_011544371.2:c.337G>T, XM_011544371.1:c.337G>T, XM_017012974.3:c.1096G>T, XM_017012974.2:c.1096G>T, XM_017012974.1:c.1096G>T, XM_017012975.3:c.1096G>T, XM_017012975.2:c.1096G>T, XM_017012975.1:c.1096G>T, XM_011544369.3:c.1096G>T, XM_011544369.2:c.1096G>T, XM_011544369.1:c.1096G>T, XM_006716274.2:c.1096G>T, XM_006716274.1:c.1096G>T, XM_005273382.2:c.1096G>T, XM_005273382.1:c.1096G>T, XM_047421272.1:c.916G>T, XM_047421273.1:c.397G>T, XM_047421274.1:c.166G>T, XM_047421270.1:c.1096G>T, XM_047421271.1:c.1096G>T, NM_021778.1:c.1096G>T, NP_055080.2:p.Ala366Ser, NP_068547.2:p.Ala366Ser, NP_001291280.1:p.Ala366Ser, XP_005273437.1:p.Ala366Ser, XP_006716336.1:p.Ala366Ser, XP_011542670.1:p.Ala366Ser, XP_011542669.1:p.Ala366Ser, XP_011542673.1:p.Ala113Ser, XP_016868463.1:p.Ala366Ser, XP_016868464.1:p.Ala366Ser, XP_011542671.1:p.Ala366Ser, XP_006716337.1:p.Ala366Ser, XP_005273439.1:p.Ala366Ser, XP_047277228.1:p.Ala306Ser, XP_047277229.1:p.Ala133Ser, XP_047277230.1:p.Ala56Ser, XP_047277226.1:p.Ala366Ser, XP_047277227.1:p.Ala366Ser
                    10.

                    rs1474118401 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      8:24323954 (GRCh38)
                      8:24181467 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:24323953:G:A
                      Gene:
                      ADAM28 (Varview), ADAM7-AS1 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_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_000008.11:g.24323954G>A, NC_000008.10:g.24181467G>A, NG_029394.2:g.34888G>A, NM_014265.6:c.841G>A, NM_014265.5:c.841G>A, NM_014265.4:c.841G>A, NM_021777.5:c.841G>A, NM_021777.4:c.841G>A, NM_021777.3:c.841G>A, NR_130710.2:n.984G>A, NR_130710.1:n.1013G>A, NM_001304351.2:c.841G>A, NM_001304351.1:c.841G>A, NR_130709.2:n.729G>A, NR_130709.1:n.758G>A, XM_005273380.5:c.841G>A, XM_005273380.4:c.841G>A, XM_005273380.3:c.841G>A, XM_005273380.2:c.841G>A, XM_005273380.1:c.841G>A, XM_006716273.4:c.841G>A, XM_006716273.3:c.841G>A, XM_006716273.2:c.841G>A, XM_006716273.1:c.841G>A, XM_011544368.4:c.841G>A, XM_011544368.3:c.841G>A, XM_011544368.2:c.841G>A, XM_011544368.1:c.841G>A, XM_011544367.4:c.841G>A, XM_011544367.3:c.841G>A, XM_011544367.2:c.841G>A, XM_011544367.1:c.841G>A, XM_011544371.4:c.82G>A, XM_011544371.3:c.82G>A, XM_011544371.2:c.82G>A, XM_011544371.1:c.82G>A, XM_017012974.3:c.841G>A, XM_017012974.2:c.841G>A, XM_017012974.1:c.841G>A, XM_017012975.3:c.841G>A, XM_017012975.2:c.841G>A, XM_017012975.1:c.841G>A, XM_011544369.3:c.841G>A, XM_011544369.2:c.841G>A, XM_011544369.1:c.841G>A, XM_006716274.2:c.841G>A, XM_006716274.1:c.841G>A, XM_005273382.2:c.841G>A, XM_005273382.1:c.841G>A, XM_047421272.1:c.661G>A, XM_047421273.1:c.142G>A, XM_047421270.1:c.841G>A, XM_047421271.1:c.841G>A, NM_021778.1:c.841G>A, NP_055080.2:p.Gly281Arg, NP_068547.2:p.Gly281Arg, NP_001291280.1:p.Gly281Arg, XP_005273437.1:p.Gly281Arg, XP_006716336.1:p.Gly281Arg, XP_011542670.1:p.Gly281Arg, XP_011542669.1:p.Gly281Arg, XP_011542673.1:p.Gly28Arg, XP_016868463.1:p.Gly281Arg, XP_016868464.1:p.Gly281Arg, XP_011542671.1:p.Gly281Arg, XP_006716337.1:p.Gly281Arg, XP_005273439.1:p.Gly281Arg, XP_047277228.1:p.Gly221Arg, XP_047277229.1:p.Gly48Arg, XP_047277226.1:p.Gly281Arg, XP_047277227.1:p.Gly281Arg
                      11.

                      rs1471394898 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,T [Show Flanks]
                        Chromosome:
                        8:24335610 (GRCh38)
                        8:24193123 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:24335609:G:A,NC_000008.11:24335609:G:T
                        Gene:
                        ADAM28 (Varview), ADAM7-AS1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_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_000008.11:g.24335610G>A, NC_000008.11:g.24335610G>T, NC_000008.10:g.24193123G>A, NC_000008.10:g.24193123G>T, NG_029394.2:g.46544G>A, NG_029394.2:g.46544G>T, NM_014265.6:c.1536G>A, NM_014265.6:c.1536G>T, NM_014265.5:c.1536G>A, NM_014265.5:c.1536G>T, NM_014265.4:c.1536G>A, NM_014265.4:c.1536G>T, NM_021777.5:c.1536G>A, NM_021777.5:c.1536G>T, NM_021777.4:c.1536G>A, NM_021777.4:c.1536G>T, NM_021777.3:c.1536G>A, NM_021777.3:c.1536G>T, NR_130710.2:n.1679G>A, NR_130710.2:n.1679G>T, NR_130710.1:n.1708G>A, NR_130710.1:n.1708G>T, NM_001304351.2:c.1536G>A, NM_001304351.2:c.1536G>T, NM_001304351.1:c.1536G>A, NM_001304351.1:c.1536G>T, NR_130709.2:n.1424G>A, NR_130709.2:n.1424G>T, NR_130709.1:n.1453G>A, NR_130709.1:n.1453G>T, XM_005273380.5:c.1536G>A, XM_005273380.5:c.1536G>T, XM_005273380.4:c.1536G>A, XM_005273380.4:c.1536G>T, XM_005273380.3:c.1536G>A, XM_005273380.3:c.1536G>T, XM_005273380.2:c.1536G>A, XM_005273380.2:c.1536G>T, XM_005273380.1:c.1536G>A, XM_005273380.1:c.1536G>T, XM_006716273.4:c.1536G>A, XM_006716273.4:c.1536G>T, XM_006716273.3:c.1536G>A, XM_006716273.3:c.1536G>T, XM_006716273.2:c.1536G>A, XM_006716273.2:c.1536G>T, XM_006716273.1:c.1536G>A, XM_006716273.1:c.1536G>T, XM_011544368.4:c.1536G>A, XM_011544368.4:c.1536G>T, XM_011544368.3:c.1536G>A, XM_011544368.3:c.1536G>T, XM_011544368.2:c.1536G>A, XM_011544368.2:c.1536G>T, XM_011544368.1:c.1536G>A, XM_011544368.1:c.1536G>T, XM_011544367.4:c.1536G>A, XM_011544367.4:c.1536G>T, XM_011544367.3:c.1536G>A, XM_011544367.3:c.1536G>T, XM_011544367.2:c.1536G>A, XM_011544367.2:c.1536G>T, XM_011544367.1:c.1536G>A, XM_011544367.1:c.1536G>T, XM_011544371.4:c.777G>A, XM_011544371.4:c.777G>T, XM_011544371.3:c.777G>A, XM_011544371.3:c.777G>T, XM_011544371.2:c.777G>A, XM_011544371.2:c.777G>T, XM_011544371.1:c.777G>A, XM_011544371.1:c.777G>T, XM_017012974.3:c.1536G>A, XM_017012974.3:c.1536G>T, XM_017012974.2:c.1536G>A, XM_017012974.2:c.1536G>T, XM_017012974.1:c.1536G>A, XM_017012974.1:c.1536G>T, XM_017012975.3:c.1536G>A, XM_017012975.3:c.1536G>T, XM_017012975.2:c.1536G>A, XM_017012975.2:c.1536G>T, XM_017012975.1:c.1536G>A, XM_017012975.1:c.1536G>T, XM_011544369.3:c.1536G>A, XM_011544369.3:c.1536G>T, XM_011544369.2:c.1536G>A, XM_011544369.2:c.1536G>T, XM_011544369.1:c.1536G>A, XM_011544369.1:c.1536G>T, XM_006716274.2:c.1536G>A, XM_006716274.2:c.1536G>T, XM_006716274.1:c.1536G>A, XM_006716274.1:c.1536G>T, XM_005273382.2:c.1536G>A, XM_005273382.2:c.1536G>T, XM_005273382.1:c.1536G>A, XM_005273382.1:c.1536G>T, XM_047421272.1:c.1356G>A, XM_047421272.1:c.1356G>T, XM_047421273.1:c.837G>A, XM_047421273.1:c.837G>T, XM_047421274.1:c.606G>A, XM_047421274.1:c.606G>T, XM_047421270.1:c.1536G>A, XM_047421270.1:c.1536G>T, XM_047421271.1:c.1536G>A, XM_047421271.1:c.1536G>T, NM_021778.1:c.1536G>A, NM_021778.1:c.1536G>T
                        12.

                        rs1468280543 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          C>- [Show Flanks]
                          Chromosome:
                          8:24335638 (GRCh38)
                          8:24193151 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:24335637:CC:C
                          Gene:
                          ADAM28 (Varview), ADAM7-AS1 (Varview)
                          Functional Consequence:
                          frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          CC=0./0 (ALFA)
                          HGVS:
                          NC_000008.11:g.24335639del, NC_000008.10:g.24193152del, NG_029394.2:g.46573del, NM_014265.6:c.1565del, NM_014265.5:c.1565del, NM_014265.4:c.1565del, NM_021777.5:c.1565del, NM_021777.4:c.1565del, NM_021777.3:c.1565del, NR_130710.2:n.1708del, NR_130710.1:n.1737del, NM_001304351.2:c.1565del, NM_001304351.1:c.1565del, NR_130709.2:n.1453del, NR_130709.1:n.1482del, XM_005273380.5:c.1565del, XM_005273380.4:c.1565del, XM_005273380.3:c.1565del, XM_005273380.2:c.1565del, XM_005273380.1:c.1565del, XM_006716273.4:c.1565del, XM_006716273.3:c.1565del, XM_006716273.2:c.1565del, XM_006716273.1:c.1565del, XM_011544368.4:c.1565del, XM_011544368.3:c.1565del, XM_011544368.2:c.1565del, XM_011544368.1:c.1565del, XM_011544367.4:c.1565del, XM_011544367.3:c.1565del, XM_011544367.2:c.1565del, XM_011544367.1:c.1565del, XM_011544371.4:c.806del, XM_011544371.3:c.806del, XM_011544371.2:c.806del, XM_011544371.1:c.806del, XM_017012974.3:c.1565del, XM_017012974.2:c.1565del, XM_017012974.1:c.1565del, XM_017012975.3:c.1565del, XM_017012975.2:c.1565del, XM_017012975.1:c.1565del, XM_011544369.3:c.1565del, XM_011544369.2:c.1565del, XM_011544369.1:c.1565del, XM_006716274.2:c.1565del, XM_006716274.1:c.1565del, XM_005273382.2:c.1565del, XM_005273382.1:c.1565del, XM_047421272.1:c.1385del, XM_047421273.1:c.866del, XM_047421274.1:c.635del, XM_047421270.1:c.1565del, XM_047421271.1:c.1565del, NM_021778.1:c.1565del, NP_055080.2:p.Pro522fs, NP_068547.2:p.Pro522fs, NP_001291280.1:p.Pro522fs, XP_005273437.1:p.Pro522fs, XP_006716336.1:p.Pro522fs, XP_011542670.1:p.Pro522fs, XP_011542669.1:p.Pro522fs, XP_011542673.1:p.Pro269fs, XP_016868463.1:p.Pro522fs, XP_016868464.1:p.Pro522fs, XP_011542671.1:p.Pro522fs, XP_006716337.1:p.Pro522fs, XP_005273439.1:p.Pro522fs, XP_047277228.1:p.Pro462fs, XP_047277229.1:p.Pro289fs, XP_047277230.1:p.Pro212fs, XP_047277226.1:p.Pro522fs, XP_047277227.1:p.Pro522fs
                          13.

                          rs1466992902 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            8:24343537 (GRCh38)
                            8:24201050 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:24343536:A:G
                            Gene:
                            ADAM28 (Varview), ADAM7-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.24343537A>G, NC_000008.10:g.24201050A>G, NG_029394.2:g.54471A>G, NM_014265.6:c.1943A>G, NM_014265.5:c.1943A>G, NM_014265.4:c.1943A>G, NR_130710.2:n.2086A>G, NR_130710.1:n.2115A>G, NM_001304351.2:c.1943A>G, NM_001304351.1:c.1943A>G, XM_005273380.5:c.1943A>G, XM_005273380.4:c.1943A>G, XM_005273380.3:c.1943A>G, XM_005273380.2:c.1943A>G, XM_005273380.1:c.1943A>G, XM_006716273.4:c.1943A>G, XM_006716273.3:c.1943A>G, XM_006716273.2:c.1943A>G, XM_006716273.1:c.1943A>G, XM_011544368.4:c.1943A>G, XM_011544368.3:c.1943A>G, XM_011544368.2:c.1943A>G, XM_011544368.1:c.1943A>G, XM_011544367.4:c.1943A>G, XM_011544367.3:c.1943A>G, XM_011544367.2:c.1943A>G, XM_011544367.1:c.1943A>G, XM_011544371.4:c.1184A>G, XM_011544371.3:c.1184A>G, XM_011544371.2:c.1184A>G, XM_011544371.1:c.1184A>G, XM_017012974.3:c.1943A>G, XM_017012974.2:c.1943A>G, XM_017012974.1:c.1943A>G, XM_017012975.3:c.1943A>G, XM_017012975.2:c.1943A>G, XM_017012975.1:c.1943A>G, XM_011544369.3:c.1943A>G, XM_011544369.2:c.1943A>G, XM_011544369.1:c.1943A>G, XM_006716274.2:c.1943A>G, XM_006716274.1:c.1943A>G, XM_047421272.1:c.1763A>G, XM_047421273.1:c.1244A>G, XM_047421274.1:c.1013A>G, XM_047421270.1:c.1943A>G, XM_047421271.1:c.1943A>G, NM_021778.1:c.1943A>G, NP_055080.2:p.Glu648Gly, NP_001291280.1:p.Glu648Gly, XP_005273437.1:p.Glu648Gly, XP_006716336.1:p.Glu648Gly, XP_011542670.1:p.Glu648Gly, XP_011542669.1:p.Glu648Gly, XP_011542673.1:p.Glu395Gly, XP_016868463.1:p.Glu648Gly, XP_016868464.1:p.Glu648Gly, XP_011542671.1:p.Glu648Gly, XP_006716337.1:p.Glu648Gly, XP_047277228.1:p.Glu588Gly, XP_047277229.1:p.Glu415Gly, XP_047277230.1:p.Glu338Gly, XP_047277226.1:p.Glu648Gly, XP_047277227.1:p.Glu648Gly
                            14.

                            rs1466573385 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:24323945 (GRCh38)
                              8:24181458 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:24323944:A:G
                              Gene:
                              ADAM28 (Varview), ADAM7-AS1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000008.11:g.24323945A>G, NC_000008.10:g.24181458A>G, NG_029394.2:g.34879A>G, NM_014265.6:c.832A>G, NM_014265.5:c.832A>G, NM_014265.4:c.832A>G, NM_021777.5:c.832A>G, NM_021777.4:c.832A>G, NM_021777.3:c.832A>G, NR_130710.2:n.975A>G, NR_130710.1:n.1004A>G, NM_001304351.2:c.832A>G, NM_001304351.1:c.832A>G, NR_130709.2:n.720A>G, NR_130709.1:n.749A>G, XM_005273380.5:c.832A>G, XM_005273380.4:c.832A>G, XM_005273380.3:c.832A>G, XM_005273380.2:c.832A>G, XM_005273380.1:c.832A>G, XM_006716273.4:c.832A>G, XM_006716273.3:c.832A>G, XM_006716273.2:c.832A>G, XM_006716273.1:c.832A>G, XM_011544368.4:c.832A>G, XM_011544368.3:c.832A>G, XM_011544368.2:c.832A>G, XM_011544368.1:c.832A>G, XM_011544367.4:c.832A>G, XM_011544367.3:c.832A>G, XM_011544367.2:c.832A>G, XM_011544367.1:c.832A>G, XM_011544371.4:c.73A>G, XM_011544371.3:c.73A>G, XM_011544371.2:c.73A>G, XM_011544371.1:c.73A>G, XM_017012974.3:c.832A>G, XM_017012974.2:c.832A>G, XM_017012974.1:c.832A>G, XM_017012975.3:c.832A>G, XM_017012975.2:c.832A>G, XM_017012975.1:c.832A>G, XM_011544369.3:c.832A>G, XM_011544369.2:c.832A>G, XM_011544369.1:c.832A>G, XM_006716274.2:c.832A>G, XM_006716274.1:c.832A>G, XM_005273382.2:c.832A>G, XM_005273382.1:c.832A>G, XM_047421272.1:c.652A>G, XM_047421273.1:c.133A>G, XM_047421270.1:c.832A>G, XM_047421271.1:c.832A>G, NM_021778.1:c.832A>G, NP_055080.2:p.Lys278Glu, NP_068547.2:p.Lys278Glu, NP_001291280.1:p.Lys278Glu, XP_005273437.1:p.Lys278Glu, XP_006716336.1:p.Lys278Glu, XP_011542670.1:p.Lys278Glu, XP_011542669.1:p.Lys278Glu, XP_011542673.1:p.Lys25Glu, XP_016868463.1:p.Lys278Glu, XP_016868464.1:p.Lys278Glu, XP_011542671.1:p.Lys278Glu, XP_006716337.1:p.Lys278Glu, XP_005273439.1:p.Lys278Glu, XP_047277228.1:p.Lys218Glu, XP_047277229.1:p.Lys45Glu, XP_047277226.1:p.Lys278Glu, XP_047277227.1:p.Lys278Glu
                              15.

                              rs1465657649 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                8:24353829 (GRCh38)
                                8:24211342 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:24353828:T:C
                                Gene:
                                ADAM28 (Varview), ADAM7-AS1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                C=0.000008/2 (GnomAD_exomes)
                                C=0.000071/1 (TOMMO)
                                HGVS:
                                16.

                                rs1465379463 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  8:24330088 (GRCh38)
                                  8:24187601 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:24330087:C:T
                                  Gene:
                                  ADAM28 (Varview), ADAM7-AS1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000224/1 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000223/1 (Estonian)
                                  HGVS:
                                  NC_000008.11:g.24330088C>T, NC_000008.10:g.24187601C>T, NG_029394.2:g.41022C>T, NM_014265.6:c.1076C>T, NM_014265.5:c.1076C>T, NM_014265.4:c.1076C>T, NM_021777.5:c.1076C>T, NM_021777.4:c.1076C>T, NM_021777.3:c.1076C>T, NR_130710.2:n.1219C>T, NR_130710.1:n.1248C>T, NM_001304351.2:c.1076C>T, NM_001304351.1:c.1076C>T, NR_130709.2:n.964C>T, NR_130709.1:n.993C>T, XM_005273380.5:c.1076C>T, XM_005273380.4:c.1076C>T, XM_005273380.3:c.1076C>T, XM_005273380.2:c.1076C>T, XM_005273380.1:c.1076C>T, XM_006716273.4:c.1076C>T, XM_006716273.3:c.1076C>T, XM_006716273.2:c.1076C>T, XM_006716273.1:c.1076C>T, XM_011544368.4:c.1076C>T, XM_011544368.3:c.1076C>T, XM_011544368.2:c.1076C>T, XM_011544368.1:c.1076C>T, XM_011544367.4:c.1076C>T, XM_011544367.3:c.1076C>T, XM_011544367.2:c.1076C>T, XM_011544367.1:c.1076C>T, XM_011544371.4:c.317C>T, XM_011544371.3:c.317C>T, XM_011544371.2:c.317C>T, XM_011544371.1:c.317C>T, XM_017012974.3:c.1076C>T, XM_017012974.2:c.1076C>T, XM_017012974.1:c.1076C>T, XM_017012975.3:c.1076C>T, XM_017012975.2:c.1076C>T, XM_017012975.1:c.1076C>T, XM_011544369.3:c.1076C>T, XM_011544369.2:c.1076C>T, XM_011544369.1:c.1076C>T, XM_006716274.2:c.1076C>T, XM_006716274.1:c.1076C>T, XM_005273382.2:c.1076C>T, XM_005273382.1:c.1076C>T, XM_047421272.1:c.896C>T, XM_047421273.1:c.377C>T, XM_047421274.1:c.146C>T, XM_047421270.1:c.1076C>T, XM_047421271.1:c.1076C>T, NM_021778.1:c.1076C>T, NP_055080.2:p.Thr359Ile, NP_068547.2:p.Thr359Ile, NP_001291280.1:p.Thr359Ile, XP_005273437.1:p.Thr359Ile, XP_006716336.1:p.Thr359Ile, XP_011542670.1:p.Thr359Ile, XP_011542669.1:p.Thr359Ile, XP_011542673.1:p.Thr106Ile, XP_016868463.1:p.Thr359Ile, XP_016868464.1:p.Thr359Ile, XP_011542671.1:p.Thr359Ile, XP_006716337.1:p.Thr359Ile, XP_005273439.1:p.Thr359Ile, XP_047277228.1:p.Thr299Ile, XP_047277229.1:p.Thr126Ile, XP_047277230.1:p.Thr49Ile, XP_047277226.1:p.Thr359Ile, XP_047277227.1:p.Thr359Ile
                                  17.

                                  rs1464767262 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    8:24331279 (GRCh38)
                                    8:24188792 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:24331278:G:A
                                    Gene:
                                    ADAM28 (Varview), ADAM7-AS1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000008.11:g.24331279G>A, NC_000008.10:g.24188792G>A, NG_029394.2:g.42213G>A, NM_014265.6:c.1233G>A, NM_014265.5:c.1233G>A, NM_014265.4:c.1233G>A, NM_021777.5:c.1233G>A, NM_021777.4:c.1233G>A, NM_021777.3:c.1233G>A, NR_130710.2:n.1376G>A, NR_130710.1:n.1405G>A, NM_001304351.2:c.1233G>A, NM_001304351.1:c.1233G>A, NR_130709.2:n.1121G>A, NR_130709.1:n.1150G>A, XM_005273380.5:c.1233G>A, XM_005273380.4:c.1233G>A, XM_005273380.3:c.1233G>A, XM_005273380.2:c.1233G>A, XM_005273380.1:c.1233G>A, XM_006716273.4:c.1233G>A, XM_006716273.3:c.1233G>A, XM_006716273.2:c.1233G>A, XM_006716273.1:c.1233G>A, XM_011544368.4:c.1233G>A, XM_011544368.3:c.1233G>A, XM_011544368.2:c.1233G>A, XM_011544368.1:c.1233G>A, XM_011544367.4:c.1233G>A, XM_011544367.3:c.1233G>A, XM_011544367.2:c.1233G>A, XM_011544367.1:c.1233G>A, XM_011544371.4:c.474G>A, XM_011544371.3:c.474G>A, XM_011544371.2:c.474G>A, XM_011544371.1:c.474G>A, XM_017012974.3:c.1233G>A, XM_017012974.2:c.1233G>A, XM_017012974.1:c.1233G>A, XM_017012975.3:c.1233G>A, XM_017012975.2:c.1233G>A, XM_017012975.1:c.1233G>A, XM_011544369.3:c.1233G>A, XM_011544369.2:c.1233G>A, XM_011544369.1:c.1233G>A, XM_006716274.2:c.1233G>A, XM_006716274.1:c.1233G>A, XM_005273382.2:c.1233G>A, XM_005273382.1:c.1233G>A, XM_047421272.1:c.1053G>A, XM_047421273.1:c.534G>A, XM_047421274.1:c.303G>A, XM_047421270.1:c.1233G>A, XM_047421271.1:c.1233G>A, NM_021778.1:c.1233G>A
                                    18.

                                    rs1464453965 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      8:24349930 (GRCh38)
                                      8:24207443 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:24349929:T:C
                                      Gene:
                                      ADAM28 (Varview), ADAM7-AS1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.24349930T>C, NC_000008.10:g.24207443T>C, NG_029394.2:g.60864T>C, NM_014265.6:c.2057T>C, NM_014265.5:c.2057T>C, NM_014265.4:c.2057T>C, NR_130710.2:n.2204T>C, NR_130710.1:n.2233T>C, NM_001304351.2:c.2057T>C, NM_001304351.1:c.2057T>C, XM_005273380.5:c.2061T>C, XM_005273380.4:c.2061T>C, XM_005273380.3:c.2061T>C, XM_005273380.2:c.2061T>C, XM_005273380.1:c.2061T>C, XM_006716273.4:c.2057T>C, XM_006716273.3:c.2057T>C, XM_006716273.2:c.2057T>C, XM_006716273.1:c.2057T>C, XM_011544368.4:c.2061T>C, XM_011544368.3:c.2061T>C, XM_011544368.2:c.2061T>C, XM_011544368.1:c.2061T>C, XM_011544367.4:c.2057T>C, XM_011544367.3:c.2057T>C, XM_011544367.2:c.2057T>C, XM_011544367.1:c.2057T>C, XM_011544371.4:c.1298T>C, XM_011544371.3:c.1298T>C, XM_011544371.2:c.1298T>C, XM_011544371.1:c.1298T>C, XM_017012974.3:c.2061T>C, XM_017012974.2:c.2061T>C, XM_017012974.1:c.2061T>C, XM_017012975.3:c.2057T>C, XM_017012975.2:c.2057T>C, XM_017012975.1:c.2057T>C, XM_006716274.2:c.2061T>C, XM_006716274.1:c.2061T>C, XM_047421272.1:c.1877T>C, XM_047421273.1:c.1358T>C, XM_047421274.1:c.1127T>C, XM_047421270.1:c.2061T>C, XM_047421271.1:c.*1T>C, NM_021778.1:c.2057T>C, NP_055080.2:p.Ile686Thr, NP_001291280.1:p.Ile686Thr, XP_006716336.1:p.Ile686Thr, XP_011542669.1:p.Ile686Thr, XP_011542673.1:p.Ile433Thr, XP_016868464.1:p.Ile686Thr, XP_047277228.1:p.Ile626Thr, XP_047277229.1:p.Ile453Thr, XP_047277230.1:p.Ile376Thr
                                      19.

                                      rs1462551050 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        8:24341717 (GRCh38)
                                        8:24199230 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:24341716:T:C
                                        Gene:
                                        ADAM28 (Varview), ADAM7-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.24341717T>C, NC_000008.10:g.24199230T>C, NG_029394.2:g.52651T>C, NM_014265.6:c.1790T>C, NM_014265.5:c.1790T>C, NM_014265.4:c.1790T>C, NR_130710.2:n.1933T>C, NR_130710.1:n.1962T>C, NM_001304351.2:c.1790T>C, NM_001304351.1:c.1790T>C, XM_005273380.5:c.1790T>C, XM_005273380.4:c.1790T>C, XM_005273380.3:c.1790T>C, XM_005273380.2:c.1790T>C, XM_005273380.1:c.1790T>C, XM_006716273.4:c.1790T>C, XM_006716273.3:c.1790T>C, XM_006716273.2:c.1790T>C, XM_006716273.1:c.1790T>C, XM_011544368.4:c.1790T>C, XM_011544368.3:c.1790T>C, XM_011544368.2:c.1790T>C, XM_011544368.1:c.1790T>C, XM_011544367.4:c.1790T>C, XM_011544367.3:c.1790T>C, XM_011544367.2:c.1790T>C, XM_011544367.1:c.1790T>C, XM_011544371.4:c.1031T>C, XM_011544371.3:c.1031T>C, XM_011544371.2:c.1031T>C, XM_011544371.1:c.1031T>C, XM_017012974.3:c.1790T>C, XM_017012974.2:c.1790T>C, XM_017012974.1:c.1790T>C, XM_017012975.3:c.1790T>C, XM_017012975.2:c.1790T>C, XM_017012975.1:c.1790T>C, XM_011544369.3:c.1790T>C, XM_011544369.2:c.1790T>C, XM_011544369.1:c.1790T>C, XM_006716274.2:c.1790T>C, XM_006716274.1:c.1790T>C, XM_005273382.2:c.1790T>C, XM_005273382.1:c.1790T>C, XM_047421272.1:c.1610T>C, XM_047421273.1:c.1091T>C, XM_047421274.1:c.860T>C, XM_047421270.1:c.1790T>C, XM_047421271.1:c.1790T>C, NM_021778.1:c.1790T>C, NP_055080.2:p.Ile597Thr, NP_001291280.1:p.Ile597Thr, XP_005273437.1:p.Ile597Thr, XP_006716336.1:p.Ile597Thr, XP_011542670.1:p.Ile597Thr, XP_011542669.1:p.Ile597Thr, XP_011542673.1:p.Ile344Thr, XP_016868463.1:p.Ile597Thr, XP_016868464.1:p.Ile597Thr, XP_011542671.1:p.Ile597Thr, XP_006716337.1:p.Ile597Thr, XP_005273439.1:p.Ile597Thr, XP_047277228.1:p.Ile537Thr, XP_047277229.1:p.Ile364Thr, XP_047277230.1:p.Ile287Thr, XP_047277226.1:p.Ile597Thr, XP_047277227.1:p.Ile597Thr
                                        20.

                                        rs1461680630 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C,T [Show Flanks]
                                          Chromosome:
                                          8:24339518 (GRCh38)
                                          8:24197031 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:24339517:G:C,NC_000008.11:24339517:G:T
                                          Gene:
                                          ADAM28 (Varview), ADAM7-AS1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.24339518G>C, NC_000008.11:g.24339518G>T, NC_000008.10:g.24197031G>C, NC_000008.10:g.24197031G>T, NG_029394.2:g.50452G>C, NG_029394.2:g.50452G>T, NM_014265.6:c.1620G>C, NM_014265.6:c.1620G>T, NM_014265.5:c.1620G>C, NM_014265.5:c.1620G>T, NM_014265.4:c.1620G>C, NM_014265.4:c.1620G>T, NR_130710.2:n.1763G>C, NR_130710.2:n.1763G>T, NR_130710.1:n.1792G>C, NR_130710.1:n.1792G>T, NM_001304351.2:c.1620G>C, NM_001304351.2:c.1620G>T, NM_001304351.1:c.1620G>C, NM_001304351.1:c.1620G>T, XM_005273380.5:c.1620G>C, XM_005273380.5:c.1620G>T, XM_005273380.4:c.1620G>C, XM_005273380.4:c.1620G>T, XM_005273380.3:c.1620G>C, XM_005273380.3:c.1620G>T, XM_005273380.2:c.1620G>C, XM_005273380.2:c.1620G>T, XM_005273380.1:c.1620G>C, XM_005273380.1:c.1620G>T, XM_006716273.4:c.1620G>C, XM_006716273.4:c.1620G>T, XM_006716273.3:c.1620G>C, XM_006716273.3:c.1620G>T, XM_006716273.2:c.1620G>C, XM_006716273.2:c.1620G>T, XM_006716273.1:c.1620G>C, XM_006716273.1:c.1620G>T, XM_011544368.4:c.1620G>C, XM_011544368.4:c.1620G>T, XM_011544368.3:c.1620G>C, XM_011544368.3:c.1620G>T, XM_011544368.2:c.1620G>C, XM_011544368.2:c.1620G>T, XM_011544368.1:c.1620G>C, XM_011544368.1:c.1620G>T, XM_011544367.4:c.1620G>C, XM_011544367.4:c.1620G>T, XM_011544367.3:c.1620G>C, XM_011544367.3:c.1620G>T, XM_011544367.2:c.1620G>C, XM_011544367.2:c.1620G>T, XM_011544367.1:c.1620G>C, XM_011544367.1:c.1620G>T, XM_011544371.4:c.861G>C, XM_011544371.4:c.861G>T, XM_011544371.3:c.861G>C, XM_011544371.3:c.861G>T, XM_011544371.2:c.861G>C, XM_011544371.2:c.861G>T, XM_011544371.1:c.861G>C, XM_011544371.1:c.861G>T, XM_017012974.3:c.1620G>C, XM_017012974.3:c.1620G>T, XM_017012974.2:c.1620G>C, XM_017012974.2:c.1620G>T, XM_017012974.1:c.1620G>C, XM_017012974.1:c.1620G>T, XM_017012975.3:c.1620G>C, XM_017012975.3:c.1620G>T, XM_017012975.2:c.1620G>C, XM_017012975.2:c.1620G>T, XM_017012975.1:c.1620G>C, XM_017012975.1:c.1620G>T, XM_011544369.3:c.1620G>C, XM_011544369.3:c.1620G>T, XM_011544369.2:c.1620G>C, XM_011544369.2:c.1620G>T, XM_011544369.1:c.1620G>C, XM_011544369.1:c.1620G>T, XM_006716274.2:c.1620G>C, XM_006716274.2:c.1620G>T, XM_006716274.1:c.1620G>C, XM_006716274.1:c.1620G>T, XM_005273382.2:c.1620G>C, XM_005273382.2:c.1620G>T, XM_005273382.1:c.1620G>C, XM_005273382.1:c.1620G>T, XM_047421272.1:c.1440G>C, XM_047421272.1:c.1440G>T, XM_047421273.1:c.921G>C, XM_047421273.1:c.921G>T, XM_047421274.1:c.690G>C, XM_047421274.1:c.690G>T, XM_047421270.1:c.1620G>C, XM_047421270.1:c.1620G>T, XM_047421271.1:c.1620G>C, XM_047421271.1:c.1620G>T, NM_021778.1:c.1620G>C, NM_021778.1:c.1620G>T, NP_055080.2:p.Lys540Asn, NP_055080.2:p.Lys540Asn, NP_001291280.1:p.Lys540Asn, NP_001291280.1:p.Lys540Asn, XP_005273437.1:p.Lys540Asn, XP_005273437.1:p.Lys540Asn, XP_006716336.1:p.Lys540Asn, XP_006716336.1:p.Lys540Asn, XP_011542670.1:p.Lys540Asn, XP_011542670.1:p.Lys540Asn, XP_011542669.1:p.Lys540Asn, XP_011542669.1:p.Lys540Asn, XP_011542673.1:p.Lys287Asn, XP_011542673.1:p.Lys287Asn, XP_016868463.1:p.Lys540Asn, XP_016868463.1:p.Lys540Asn, XP_016868464.1:p.Lys540Asn, XP_016868464.1:p.Lys540Asn, XP_011542671.1:p.Lys540Asn, XP_011542671.1:p.Lys540Asn, XP_006716337.1:p.Lys540Asn, XP_006716337.1:p.Lys540Asn, XP_005273439.1:p.Lys540Asn, XP_005273439.1:p.Lys540Asn, XP_047277228.1:p.Lys480Asn, XP_047277228.1:p.Lys480Asn, XP_047277229.1:p.Lys307Asn, XP_047277229.1:p.Lys307Asn, XP_047277230.1:p.Lys230Asn, XP_047277230.1:p.Lys230Asn, XP_047277226.1:p.Lys540Asn, XP_047277226.1:p.Lys540Asn, XP_047277227.1:p.Lys540Asn, XP_047277227.1:p.Lys540Asn

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