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Items: 1 to 20 of 528

1.

rs1490725283 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    16:89955173 (GRCh38)
    16:90021581 (GRCh37)
    Canonical SPDI:
    NC_000016.10:89955172:C:T
    Gene:
    DEF8 (Varview)
    Functional Consequence:
    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000016.10:g.89955173C>T, NC_000016.9:g.90021581C>T, XM_005256318.4:c.129C>T, XM_005256318.3:c.129C>T, XM_005256318.2:c.129C>T, XM_005256318.1:c.438C>T, XM_011523160.4:c.312C>T, XM_011523160.3:c.312C>T, XM_011523160.2:c.312C>T, XM_011523160.1:c.312C>T, XM_011523161.4:c.312C>T, XM_011523161.3:c.312C>T, XM_011523161.2:c.312C>T, XM_011523161.1:c.312C>T, XM_011523156.4:c.129C>T, XM_011523156.3:c.129C>T, XM_011523156.2:c.129C>T, XM_011523156.1:c.129C>T, XM_011523157.4:c.129C>T, XM_011523157.3:c.129C>T, XM_011523157.2:c.129C>T, XM_011523157.1:c.129C>T, XM_011523159.4:c.231C>T, XM_011523159.3:c.231C>T, XM_011523159.2:c.231C>T, XM_011523159.1:c.231C>T, XM_011523162.4:c.129C>T, XM_011523162.3:c.129C>T, XM_011523162.2:c.129C>T, XM_011523162.1:c.129C>T, NM_017702.4:c.129C>T, NM_017702.3:c.129C>T, XM_017023366.3:c.129C>T, XM_017023366.2:c.129C>T, XM_017023366.1:c.129C>T, NM_207514.3:c.312C>T, NM_207514.2:c.312C>T, XM_017023358.3:c.129C>T, XM_017023358.2:c.129C>T, XM_017023358.1:c.129C>T, XM_011523158.3:c.129C>T, XM_011523158.2:c.129C>T, XM_011523158.1:c.129C>T, XM_017023359.3:c.129C>T, XM_017023359.2:c.129C>T, XM_017023359.1:c.129C>T, XM_017023361.3:c.231C>T, XM_017023361.2:c.231C>T, XM_017023361.1:c.231C>T, XM_017023362.3:c.231C>T, XM_017023362.2:c.231C>T, XM_017023362.1:c.231C>T, XM_017023360.3:c.129C>T, XM_017023360.2:c.129C>T, XM_017023360.1:c.129C>T, XM_017023364.3:c.231C>T, XM_017023364.2:c.231C>T, XM_017023364.1:c.231C>T, XM_017023367.3:c.129C>T, XM_017023367.2:c.129C>T, XM_017023367.1:c.129C>T, XM_017023369.3:c.129C>T, XM_017023369.2:c.129C>T, XM_017023369.1:c.129C>T, NM_001242820.2:c.129C>T, NM_001242820.1:c.129C>T, XM_017023363.2:c.312C>T, XM_017023363.1:c.312C>T, XM_017023365.2:c.312C>T, XM_017023365.1:c.312C>T, NM_001242818.2:c.129C>T, NM_001242818.1:c.129C>T, NM_001242816.2:c.129C>T, NM_001242816.1:c.129C>T, NM_001242817.2:c.-52C>T, NM_001242817.1:c.-52C>T, NM_001242822.2:c.129C>T, NM_001242822.1:c.129C>T, NM_001242821.2:c.129C>T, NM_001242821.1:c.129C>T, XM_047434272.1:c.312C>T, XM_047434273.1:c.129C>T, NM_001242819.1:c.129C>T

    2.

    rs1487111325 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->TTTTTTAATGATAC,TTTTTTCATGATAC [Show Flanks]
      Chromosome:
      16:89964240 (GRCh38)
      16:90030649 (GRCh37)
      Canonical SPDI:
      NC_000016.10:89964240:C:CTTTTTTAATGATAC,NC_000016.10:89964240:C:CTTTTTTCATGATAC
      Gene:
      DEF8 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTTTTTTAATGATAC=0.00107/52 (ALFA)
      CTTTTTTAATGATA=0.00035/6 (TOMMO)
      HGVS:
      NC_000016.10:g.89964241_89964242insTTTTTTAATGATAC, NC_000016.10:g.89964241_89964242insTTTTTTCATGATAC, NC_000016.9:g.90030649_90030650insTTTTTTAATGATAC, NC_000016.9:g.90030649_90030650insTTTTTTCATGATAC, XM_005256318.4:c.1023_1024insTTTTTTAATGATAC, XM_005256318.4:c.1023_1024insTTTTTTCATGATAC, XM_005256318.3:c.1023_1024insTTTTTTAATGATAC, XM_005256318.3:c.1023_1024insTTTTTTCATGATAC, XM_005256318.2:c.1023_1024insTTTTTTAATGATAC, XM_005256318.2:c.1023_1024insTTTTTTCATGATAC, XM_005256318.1:c.1332_1333insTTTTTTAATGATAC, XM_005256318.1:c.1332_1333insTTTTTTCATGATAC, NM_207514.3:c.1257_1258insTTTTTTAATGATAC, NM_207514.3:c.1257_1258insTTTTTTCATGATAC, NM_207514.2:c.1257_1258insTTTTTTAATGATAC, NM_207514.2:c.1257_1258insTTTTTTCATGATAC, XM_017023358.3:c.1074_1075insTTTTTTAATGATAC, XM_017023358.3:c.1074_1075insTTTTTTCATGATAC, XM_017023358.2:c.1074_1075insTTTTTTAATGATAC, XM_017023358.2:c.1074_1075insTTTTTTCATGATAC, XM_017023358.1:c.1074_1075insTTTTTTAATGATAC, XM_017023358.1:c.1074_1075insTTTTTTCATGATAC, XM_011523158.3:c.1068_1069insTTTTTTAATGATAC, XM_011523158.3:c.1068_1069insTTTTTTCATGATAC, XM_011523158.2:c.1068_1069insTTTTTTAATGATAC, XM_011523158.2:c.1068_1069insTTTTTTCATGATAC, XM_011523158.1:c.1068_1069insTTTTTTAATGATAC, XM_011523158.1:c.1068_1069insTTTTTTCATGATAC, XM_017023359.3:c.1068_1069insTTTTTTAATGATAC, XM_017023359.3:c.1068_1069insTTTTTTCATGATAC, XM_017023359.2:c.1068_1069insTTTTTTAATGATAC, XM_017023359.2:c.1068_1069insTTTTTTCATGATAC, XM_017023359.1:c.1068_1069insTTTTTTAATGATAC, XM_017023359.1:c.1068_1069insTTTTTTCATGATAC, XM_017023361.3:c.1176_1177insTTTTTTAATGATAC, XM_017023361.3:c.1176_1177insTTTTTTCATGATAC, XM_017023361.2:c.1176_1177insTTTTTTAATGATAC, XM_017023361.2:c.1176_1177insTTTTTTCATGATAC, XM_017023361.1:c.1176_1177insTTTTTTAATGATAC, XM_017023361.1:c.1176_1177insTTTTTTCATGATAC, XM_017023362.3:c.1170_1171insTTTTTTAATGATAC, XM_017023362.3:c.1170_1171insTTTTTTCATGATAC, XM_017023362.2:c.1170_1171insTTTTTTAATGATAC, XM_017023362.2:c.1170_1171insTTTTTTCATGATAC, XM_017023362.1:c.1170_1171insTTTTTTAATGATAC, XM_017023362.1:c.1170_1171insTTTTTTCATGATAC, XM_017023360.3:c.1023_1024insTTTTTTAATGATAC, XM_017023360.3:c.1023_1024insTTTTTTCATGATAC, XM_017023360.2:c.1023_1024insTTTTTTAATGATAC, XM_017023360.2:c.1023_1024insTTTTTTCATGATAC, XM_017023360.1:c.1023_1024insTTTTTTAATGATAC, XM_017023360.1:c.1023_1024insTTTTTTCATGATAC, XM_017023364.3:c.1125_1126insTTTTTTAATGATAC, XM_017023364.3:c.1125_1126insTTTTTTCATGATAC, XM_017023364.2:c.1125_1126insTTTTTTAATGATAC, XM_017023364.2:c.1125_1126insTTTTTTCATGATAC, XM_017023364.1:c.1125_1126insTTTTTTAATGATAC, XM_017023364.1:c.1125_1126insTTTTTTCATGATAC, XM_017023367.3:c.1074_1075insTTTTTTAATGATAC, XM_017023367.3:c.1074_1075insTTTTTTCATGATAC, XM_017023367.2:c.1074_1075insTTTTTTAATGATAC, XM_017023367.2:c.1074_1075insTTTTTTCATGATAC, XM_017023367.1:c.1074_1075insTTTTTTAATGATAC, XM_017023367.1:c.1074_1075insTTTTTTCATGATAC, XM_017023369.3:c.1023_1024insTTTTTTAATGATAC, XM_017023369.3:c.1023_1024insTTTTTTCATGATAC, XM_017023369.2:c.1023_1024insTTTTTTAATGATAC, XM_017023369.2:c.1023_1024insTTTTTTCATGATAC, XM_017023369.1:c.1023_1024insTTTTTTAATGATAC, XM_017023369.1:c.1023_1024insTTTTTTCATGATAC, NM_001242820.2:c.1074_1075insTTTTTTAATGATAC, NM_001242820.2:c.1074_1075insTTTTTTCATGATAC, NM_001242820.1:c.1074_1075insTTTTTTAATGATAC, NM_001242820.1:c.1074_1075insTTTTTTCATGATAC, XM_017023363.2:c.1257_1258insTTTTTTAATGATAC, XM_017023363.2:c.1257_1258insTTTTTTCATGATAC, XM_017023363.1:c.1257_1258insTTTTTTAATGATAC, XM_017023363.1:c.1257_1258insTTTTTTCATGATAC, XM_017023365.2:c.1206_1207insTTTTTTAATGATAC, XM_017023365.2:c.1206_1207insTTTTTTCATGATAC, XM_017023365.1:c.1206_1207insTTTTTTAATGATAC, XM_017023365.1:c.1206_1207insTTTTTTCATGATAC, NM_001242818.2:c.1074_1075insTTTTTTAATGATAC, NM_001242818.2:c.1074_1075insTTTTTTCATGATAC, NM_001242818.1:c.1074_1075insTTTTTTAATGATAC, NM_001242818.1:c.1074_1075insTTTTTTCATGATAC, NM_001242816.2:c.1044_1045insTTTTTTAATGATAC, NM_001242816.2:c.1044_1045insTTTTTTCATGATAC, NM_001242816.1:c.1044_1045insTTTTTTAATGATAC, NM_001242816.1:c.1044_1045insTTTTTTCATGATAC, NM_001242817.2:c.894_895insTTTTTTAATGATAC, NM_001242817.2:c.894_895insTTTTTTCATGATAC, NM_001242817.1:c.894_895insTTTTTTAATGATAC, NM_001242817.1:c.894_895insTTTTTTCATGATAC, XM_047434272.1:c.1206_1207insTTTTTTAATGATAC, XM_047434272.1:c.1206_1207insTTTTTTCATGATAC, XM_047434273.1:c.1068_1069insTTTTTTAATGATAC, XM_047434273.1:c.1068_1069insTTTTTTCATGATAC, NM_001242819.1:c.1023_1024insTTTTTTAATGATAC, NM_001242819.1:c.1023_1024insTTTTTTCATGATAC, XP_005256375.2:p.Gly342fs, XP_005256375.2:p.Gly342fs, NP_997397.1:p.Gly420fs, NP_997397.1:p.Gly420fs, XP_016878847.1:p.Gly359fs, XP_016878847.1:p.Gly359fs, XP_011521460.1:p.Gly357fs, XP_011521460.1:p.Gly357fs, XP_016878848.1:p.Gly357fs, XP_016878848.1:p.Gly357fs, XP_016878850.1:p.Gly393fs, XP_016878850.1:p.Gly393fs, XP_016878851.1:p.Gly391fs, XP_016878851.1:p.Gly391fs, XP_016878849.1:p.Gly342fs, XP_016878849.1:p.Gly342fs, XP_016878853.1:p.Gly376fs, XP_016878853.1:p.Gly376fs, XP_016878856.1:p.Gly359fs, XP_016878856.1:p.Gly359fs, XP_016878858.1:p.Gly342fs, XP_016878858.1:p.Gly342fs, NP_001229749.1:p.Gly359fs, NP_001229749.1:p.Gly359fs, XP_016878852.1:p.Gly420fs, XP_016878852.1:p.Gly420fs, XP_016878854.1:p.Gly403fs, XP_016878854.1:p.Gly403fs, NP_001229747.1:p.Gly359fs, NP_001229747.1:p.Gly359fs, NP_001229745.1:p.Gly349fs, NP_001229745.1:p.Gly349fs, NP_001229746.1:p.Gly299fs, NP_001229746.1:p.Gly299fs, XP_047290228.1:p.Gly403fs, XP_047290228.1:p.Gly403fs, XP_047290229.1:p.Gly357fs, XP_047290229.1:p.Gly357fs, NP_001229748.1:p.Gly342fs, NP_001229748.1:p.Gly342fs

      3.

      rs1484709766 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        16:89957604 (GRCh38)
        16:90024012 (GRCh37)
        Canonical SPDI:
        NC_000016.10:89957603:C:T
        Gene:
        DEF8 (Varview)
        Functional Consequence:
        coding_sequence_variant,stop_gained
        HGVS:
        NC_000016.10:g.89957604C>T, NC_000016.9:g.90024012C>T, XM_005256318.4:c.316C>T, XM_005256318.3:c.316C>T, XM_005256318.2:c.316C>T, XM_005256318.1:c.625C>T, XM_011523160.4:c.499C>T, XM_011523160.3:c.499C>T, XM_011523160.2:c.499C>T, XM_011523160.1:c.499C>T, XM_011523161.4:c.499C>T, XM_011523161.3:c.499C>T, XM_011523161.2:c.499C>T, XM_011523161.1:c.499C>T, XM_011523156.4:c.316C>T, XM_011523156.3:c.316C>T, XM_011523156.2:c.316C>T, XM_011523156.1:c.316C>T, XM_011523157.4:c.316C>T, XM_011523157.3:c.316C>T, XM_011523157.2:c.316C>T, XM_011523157.1:c.316C>T, XM_011523159.4:c.418C>T, XM_011523159.3:c.418C>T, XM_011523159.2:c.418C>T, XM_011523159.1:c.418C>T, XM_011523162.4:c.316C>T, XM_011523162.3:c.316C>T, XM_011523162.2:c.316C>T, XM_011523162.1:c.316C>T, NM_017702.4:c.316C>T, NM_017702.3:c.316C>T, XM_017023366.3:c.316C>T, XM_017023366.2:c.316C>T, XM_017023366.1:c.316C>T, NM_207514.3:c.499C>T, NM_207514.2:c.499C>T, XM_017023358.3:c.316C>T, XM_017023358.2:c.316C>T, XM_017023358.1:c.316C>T, XM_011523158.3:c.316C>T, XM_011523158.2:c.316C>T, XM_011523158.1:c.316C>T, XM_017023359.3:c.316C>T, XM_017023359.2:c.316C>T, XM_017023359.1:c.316C>T, XM_017023361.3:c.418C>T, XM_017023361.2:c.418C>T, XM_017023361.1:c.418C>T, XM_017023362.3:c.418C>T, XM_017023362.2:c.418C>T, XM_017023362.1:c.418C>T, XM_017023360.3:c.316C>T, XM_017023360.2:c.316C>T, XM_017023360.1:c.316C>T, XM_017023364.3:c.418C>T, XM_017023364.2:c.418C>T, XM_017023364.1:c.418C>T, XM_017023367.3:c.316C>T, XM_017023367.2:c.316C>T, XM_017023367.1:c.316C>T, XM_017023369.3:c.316C>T, XM_017023369.2:c.316C>T, XM_017023369.1:c.316C>T, NM_001242820.2:c.316C>T, NM_001242820.1:c.316C>T, XM_017023363.2:c.499C>T, XM_017023363.1:c.499C>T, XM_017023365.2:c.499C>T, XM_017023365.1:c.499C>T, NM_001242818.2:c.316C>T, NM_001242818.1:c.316C>T, NM_001242816.2:c.286C>T, NM_001242816.1:c.286C>T, NM_001242817.2:c.136C>T, NM_001242817.1:c.136C>T, NM_001242822.2:c.316C>T, NM_001242822.1:c.316C>T, NM_001242821.2:c.316C>T, NM_001242821.1:c.316C>T, XM_047434272.1:c.499C>T, XM_047434273.1:c.316C>T, NM_001242819.1:c.316C>T, XP_005256375.2:p.Gln106Ter, XP_011521462.1:p.Gln167Ter, XP_011521463.1:p.Gln167Ter, XP_011521458.1:p.Gln106Ter, XP_011521459.1:p.Gln106Ter, XP_011521461.1:p.Gln140Ter, XP_011521464.1:p.Gln106Ter, NP_060172.1:p.Gln106Ter, XP_016878855.1:p.Gln106Ter, NP_997397.1:p.Gln167Ter, XP_016878847.1:p.Gln106Ter, XP_011521460.1:p.Gln106Ter, XP_016878848.1:p.Gln106Ter, XP_016878850.1:p.Gln140Ter, XP_016878851.1:p.Gln140Ter, XP_016878849.1:p.Gln106Ter, XP_016878853.1:p.Gln140Ter, XP_016878856.1:p.Gln106Ter, XP_016878858.1:p.Gln106Ter, NP_001229749.1:p.Gln106Ter, XP_016878852.1:p.Gln167Ter, XP_016878854.1:p.Gln167Ter, NP_001229747.1:p.Gln106Ter, NP_001229745.1:p.Gln96Ter, NP_001229746.1:p.Gln46Ter, NP_001229751.1:p.Gln106Ter, NP_001229750.1:p.Gln106Ter, XP_047290228.1:p.Gln167Ter, XP_047290229.1:p.Gln106Ter, NP_001229748.1:p.Gln106Ter

        4.

        rs1483173384 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          16:89959147 (GRCh38)
          16:90025555 (GRCh37)
          Canonical SPDI:
          NC_000016.10:89959146:C:G,NC_000016.10:89959146:C:T
          Gene:
          DEF8 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          HGVS:
          NC_000016.10:g.89959147C>G, NC_000016.10:g.89959147C>T, NC_000016.9:g.90025555C>G, NC_000016.9:g.90025555C>T, XM_005256318.4:c.506C>G, XM_005256318.4:c.506C>T, XM_005256318.3:c.506C>G, XM_005256318.3:c.506C>T, XM_005256318.2:c.506C>G, XM_005256318.2:c.506C>T, XM_005256318.1:c.815C>G, XM_005256318.1:c.815C>T, XM_011523160.4:c.689C>G, XM_011523160.4:c.689C>T, XM_011523160.3:c.689C>G, XM_011523160.3:c.689C>T, XM_011523160.2:c.689C>G, XM_011523160.2:c.689C>T, XM_011523160.1:c.689C>G, XM_011523160.1:c.689C>T, XM_011523161.4:c.689C>G, XM_011523161.4:c.689C>T, XM_011523161.3:c.689C>G, XM_011523161.3:c.689C>T, XM_011523161.2:c.689C>G, XM_011523161.2:c.689C>T, XM_011523161.1:c.689C>G, XM_011523161.1:c.689C>T, XM_011523156.4:c.506C>G, XM_011523156.4:c.506C>T, XM_011523156.3:c.506C>G, XM_011523156.3:c.506C>T, XM_011523156.2:c.506C>G, XM_011523156.2:c.506C>T, XM_011523156.1:c.506C>G, XM_011523156.1:c.506C>T, XM_011523157.4:c.506C>G, XM_011523157.4:c.506C>T, XM_011523157.3:c.506C>G, XM_011523157.3:c.506C>T, XM_011523157.2:c.506C>G, XM_011523157.2:c.506C>T, XM_011523157.1:c.506C>G, XM_011523157.1:c.506C>T, XM_011523159.4:c.608C>G, XM_011523159.4:c.608C>T, XM_011523159.3:c.608C>G, XM_011523159.3:c.608C>T, XM_011523159.2:c.608C>G, XM_011523159.2:c.608C>T, XM_011523159.1:c.608C>G, XM_011523159.1:c.608C>T, XM_011523162.4:c.506C>G, XM_011523162.4:c.506C>T, XM_011523162.3:c.506C>G, XM_011523162.3:c.506C>T, XM_011523162.2:c.506C>G, XM_011523162.2:c.506C>T, XM_011523162.1:c.506C>G, XM_011523162.1:c.506C>T, NM_017702.4:c.506C>G, NM_017702.4:c.506C>T, NM_017702.3:c.506C>G, NM_017702.3:c.506C>T, XM_017023366.3:c.506C>G, XM_017023366.3:c.506C>T, XM_017023366.2:c.506C>G, XM_017023366.2:c.506C>T, XM_017023366.1:c.506C>G, XM_017023366.1:c.506C>T, NM_207514.3:c.689C>G, NM_207514.3:c.689C>T, NM_207514.2:c.689C>G, NM_207514.2:c.689C>T, XM_017023358.3:c.506C>G, XM_017023358.3:c.506C>T, XM_017023358.2:c.506C>G, XM_017023358.2:c.506C>T, XM_017023358.1:c.506C>G, XM_017023358.1:c.506C>T, XM_011523158.3:c.506C>G, XM_011523158.3:c.506C>T, XM_011523158.2:c.506C>G, XM_011523158.2:c.506C>T, XM_011523158.1:c.506C>G, XM_011523158.1:c.506C>T, XM_017023359.3:c.506C>G, XM_017023359.3:c.506C>T, XM_017023359.2:c.506C>G, XM_017023359.2:c.506C>T, XM_017023359.1:c.506C>G, XM_017023359.1:c.506C>T, XM_017023361.3:c.608C>G, XM_017023361.3:c.608C>T, XM_017023361.2:c.608C>G, XM_017023361.2:c.608C>T, XM_017023361.1:c.608C>G, XM_017023361.1:c.608C>T, XM_017023362.3:c.608C>G, XM_017023362.3:c.608C>T, XM_017023362.2:c.608C>G, XM_017023362.2:c.608C>T, XM_017023362.1:c.608C>G, XM_017023362.1:c.608C>T, XM_017023360.3:c.506C>G, XM_017023360.3:c.506C>T, XM_017023360.2:c.506C>G, XM_017023360.2:c.506C>T, XM_017023360.1:c.506C>G, XM_017023360.1:c.506C>T, XM_017023364.3:c.608C>G, XM_017023364.3:c.608C>T, XM_017023364.2:c.608C>G, XM_017023364.2:c.608C>T, XM_017023364.1:c.608C>G, XM_017023364.1:c.608C>T, XM_017023367.3:c.506C>G, XM_017023367.3:c.506C>T, XM_017023367.2:c.506C>G, XM_017023367.2:c.506C>T, XM_017023367.1:c.506C>G, XM_017023367.1:c.506C>T, XM_017023369.3:c.506C>G, XM_017023369.3:c.506C>T, XM_017023369.2:c.506C>G, XM_017023369.2:c.506C>T, XM_017023369.1:c.506C>G, XM_017023369.1:c.506C>T, NM_001242820.2:c.506C>G, NM_001242820.2:c.506C>T, NM_001242820.1:c.506C>G, NM_001242820.1:c.506C>T, XM_017023363.2:c.689C>G, XM_017023363.2:c.689C>T, XM_017023363.1:c.689C>G, XM_017023363.1:c.689C>T, XM_017023365.2:c.689C>G, XM_017023365.2:c.689C>T, XM_017023365.1:c.689C>G, XM_017023365.1:c.689C>T, NM_001242818.2:c.506C>G, NM_001242818.2:c.506C>T, NM_001242818.1:c.506C>G, NM_001242818.1:c.506C>T, NM_001242816.2:c.476C>G, NM_001242816.2:c.476C>T, NM_001242816.1:c.476C>G, NM_001242816.1:c.476C>T, NM_001242817.2:c.326C>G, NM_001242817.2:c.326C>T, NM_001242817.1:c.326C>G, NM_001242817.1:c.326C>T, NM_001242822.2:c.506C>G, NM_001242822.2:c.506C>T, NM_001242822.1:c.506C>G, NM_001242822.1:c.506C>T, NM_001242821.2:c.506C>G, NM_001242821.2:c.506C>T, NM_001242821.1:c.506C>G, NM_001242821.1:c.506C>T, XM_047434272.1:c.689C>G, XM_047434272.1:c.689C>T, XM_047434273.1:c.506C>G, XM_047434273.1:c.506C>T, NM_001242819.1:c.506C>G, NM_001242819.1:c.506C>T, XP_005256375.2:p.Thr169Ser, XP_005256375.2:p.Thr169Ile, XP_011521462.1:p.Thr230Ser, XP_011521462.1:p.Thr230Ile, XP_011521463.1:p.Thr230Ser, XP_011521463.1:p.Thr230Ile, XP_011521458.1:p.Thr169Ser, XP_011521458.1:p.Thr169Ile, XP_011521459.1:p.Thr169Ser, XP_011521459.1:p.Thr169Ile, XP_011521461.1:p.Thr203Ser, XP_011521461.1:p.Thr203Ile, XP_011521464.1:p.Thr169Ser, XP_011521464.1:p.Thr169Ile, NP_060172.1:p.Thr169Ser, NP_060172.1:p.Thr169Ile, XP_016878855.1:p.Thr169Ser, XP_016878855.1:p.Thr169Ile, NP_997397.1:p.Thr230Ser, NP_997397.1:p.Thr230Ile, XP_016878847.1:p.Thr169Ser, XP_016878847.1:p.Thr169Ile, XP_011521460.1:p.Thr169Ser, XP_011521460.1:p.Thr169Ile, XP_016878848.1:p.Thr169Ser, XP_016878848.1:p.Thr169Ile, XP_016878850.1:p.Thr203Ser, XP_016878850.1:p.Thr203Ile, XP_016878851.1:p.Thr203Ser, XP_016878851.1:p.Thr203Ile, XP_016878849.1:p.Thr169Ser, XP_016878849.1:p.Thr169Ile, XP_016878853.1:p.Thr203Ser, XP_016878853.1:p.Thr203Ile, XP_016878856.1:p.Thr169Ser, XP_016878856.1:p.Thr169Ile, XP_016878858.1:p.Thr169Ser, XP_016878858.1:p.Thr169Ile, NP_001229749.1:p.Thr169Ser, NP_001229749.1:p.Thr169Ile, XP_016878852.1:p.Thr230Ser, XP_016878852.1:p.Thr230Ile, XP_016878854.1:p.Thr230Ser, XP_016878854.1:p.Thr230Ile, NP_001229747.1:p.Thr169Ser, NP_001229747.1:p.Thr169Ile, NP_001229745.1:p.Thr159Ser, NP_001229745.1:p.Thr159Ile, NP_001229746.1:p.Thr109Ser, NP_001229746.1:p.Thr109Ile, NP_001229751.1:p.Thr169Ser, NP_001229751.1:p.Thr169Ile, NP_001229750.1:p.Thr169Ser, NP_001229750.1:p.Thr169Ile, XP_047290228.1:p.Thr230Ser, XP_047290228.1:p.Thr230Ile, XP_047290229.1:p.Thr169Ser, XP_047290229.1:p.Thr169Ile, NP_001229748.1:p.Thr169Ser, NP_001229748.1:p.Thr169Ile

          5.

          rs1483015847 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:89964519 (GRCh38)
            16:90030927 (GRCh37)
            Canonical SPDI:
            NC_000016.10:89964518:G:A
            Gene:
            DEF8 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.89964519G>A, NC_000016.9:g.90030927G>A, XM_005256318.4:c.1146G>A, XM_005256318.3:c.1146G>A, XM_005256318.2:c.1146G>A, XM_005256318.1:c.1455G>A, NM_207514.3:c.1380G>A, NM_207514.2:c.1380G>A, XM_017023358.3:c.1197G>A, XM_017023358.2:c.1197G>A, XM_017023358.1:c.1197G>A, XM_011523158.3:c.1191G>A, XM_011523158.2:c.1191G>A, XM_011523158.1:c.1191G>A, XM_017023359.3:c.1191G>A, XM_017023359.2:c.1191G>A, XM_017023359.1:c.1191G>A, XM_017023361.3:c.1299G>A, XM_017023361.2:c.1299G>A, XM_017023361.1:c.1299G>A, XM_017023362.3:c.1293G>A, XM_017023362.2:c.1293G>A, XM_017023362.1:c.1293G>A, XM_017023360.3:c.1146G>A, XM_017023360.2:c.1146G>A, XM_017023360.1:c.1146G>A, XM_017023364.3:c.1248G>A, XM_017023364.2:c.1248G>A, XM_017023364.1:c.1248G>A, XM_017023367.3:c.1197G>A, XM_017023367.2:c.1197G>A, XM_017023367.1:c.1197G>A, XM_017023369.3:c.1146G>A, XM_017023369.2:c.1146G>A, XM_017023369.1:c.1146G>A, NM_001242820.2:c.1197G>A, NM_001242820.1:c.1197G>A, XM_017023363.2:c.1380G>A, XM_017023363.1:c.1380G>A, XM_017023365.2:c.1329G>A, XM_017023365.1:c.1329G>A, NM_001242818.2:c.1197G>A, NM_001242818.1:c.1197G>A, NM_001242816.2:c.1167G>A, NM_001242816.1:c.1167G>A, NM_001242817.2:c.1017G>A, NM_001242817.1:c.1017G>A, XM_047434272.1:c.1329G>A, XM_047434273.1:c.1191G>A, NM_001242819.1:c.1146G>A

            6.

            rs1481875985 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              16:89964572 (GRCh38)
              16:90030980 (GRCh37)
              Canonical SPDI:
              NC_000016.10:89964571:A:C
              Gene:
              DEF8 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000006/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.89964572A>C, NC_000016.9:g.90030980A>C, XM_005256318.4:c.1199A>C, XM_005256318.3:c.1199A>C, XM_005256318.2:c.1199A>C, XM_005256318.1:c.1508A>C, NM_207514.3:c.1433A>C, NM_207514.2:c.1433A>C, XM_017023358.3:c.1250A>C, XM_017023358.2:c.1250A>C, XM_017023358.1:c.1250A>C, XM_011523158.3:c.1244A>C, XM_011523158.2:c.1244A>C, XM_011523158.1:c.1244A>C, XM_017023359.3:c.1244A>C, XM_017023359.2:c.1244A>C, XM_017023359.1:c.1244A>C, XM_017023361.3:c.1352A>C, XM_017023361.2:c.1352A>C, XM_017023361.1:c.1352A>C, XM_017023362.3:c.1346A>C, XM_017023362.2:c.1346A>C, XM_017023362.1:c.1346A>C, XM_017023360.3:c.1199A>C, XM_017023360.2:c.1199A>C, XM_017023360.1:c.1199A>C, XM_017023364.3:c.1301A>C, XM_017023364.2:c.1301A>C, XM_017023364.1:c.1301A>C, XM_017023367.3:c.1250A>C, XM_017023367.2:c.1250A>C, XM_017023367.1:c.1250A>C, XM_017023369.3:c.1199A>C, XM_017023369.2:c.1199A>C, XM_017023369.1:c.1199A>C, NM_001242820.2:c.1250A>C, NM_001242820.1:c.1250A>C, XM_017023363.2:c.1433A>C, XM_017023363.1:c.1433A>C, XM_017023365.2:c.1382A>C, XM_017023365.1:c.1382A>C, NM_001242818.2:c.1250A>C, NM_001242818.1:c.1250A>C, NM_001242816.2:c.1220A>C, NM_001242816.1:c.1220A>C, NM_001242817.2:c.1070A>C, NM_001242817.1:c.1070A>C, XM_047434272.1:c.1382A>C, XM_047434273.1:c.1244A>C, NM_001242819.1:c.1199A>C, XP_005256375.2:p.His400Pro, NP_997397.1:p.His478Pro, XP_016878847.1:p.His417Pro, XP_011521460.1:p.His415Pro, XP_016878848.1:p.His415Pro, XP_016878850.1:p.His451Pro, XP_016878851.1:p.His449Pro, XP_016878849.1:p.His400Pro, XP_016878853.1:p.His434Pro, XP_016878856.1:p.His417Pro, XP_016878858.1:p.His400Pro, NP_001229749.1:p.His417Pro, XP_016878852.1:p.His478Pro, XP_016878854.1:p.His461Pro, NP_001229747.1:p.His417Pro, NP_001229745.1:p.His407Pro, NP_001229746.1:p.His357Pro, XP_047290228.1:p.His461Pro, XP_047290229.1:p.His415Pro, NP_001229748.1:p.His400Pro

              7.

              rs1481218062 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                16:89954296 (GRCh38)
                16:90020704 (GRCh37)
                Canonical SPDI:
                NC_000016.10:89954295:T:G
                Gene:
                DEF8 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.89954296T>G, NC_000016.9:g.90020704T>G, XM_005256318.4:c.44T>G, XM_005256318.3:c.44T>G, XM_005256318.2:c.44T>G, XM_005256318.1:c.353T>G, XM_011523160.4:c.227T>G, XM_011523160.3:c.227T>G, XM_011523160.2:c.227T>G, XM_011523160.1:c.227T>G, XM_011523161.4:c.227T>G, XM_011523161.3:c.227T>G, XM_011523161.2:c.227T>G, XM_011523161.1:c.227T>G, XM_011523156.4:c.44T>G, XM_011523156.3:c.44T>G, XM_011523156.2:c.44T>G, XM_011523156.1:c.44T>G, XM_011523157.4:c.44T>G, XM_011523157.3:c.44T>G, XM_011523157.2:c.44T>G, XM_011523157.1:c.44T>G, XM_011523159.4:c.146T>G, XM_011523159.3:c.146T>G, XM_011523159.2:c.146T>G, XM_011523159.1:c.146T>G, XM_011523162.4:c.44T>G, XM_011523162.3:c.44T>G, XM_011523162.2:c.44T>G, XM_011523162.1:c.44T>G, NM_017702.4:c.44T>G, NM_017702.3:c.44T>G, XM_017023366.3:c.44T>G, XM_017023366.2:c.44T>G, XM_017023366.1:c.44T>G, NM_207514.3:c.227T>G, NM_207514.2:c.227T>G, XM_017023358.3:c.44T>G, XM_017023358.2:c.44T>G, XM_017023358.1:c.44T>G, XM_011523158.3:c.44T>G, XM_011523158.2:c.44T>G, XM_011523158.1:c.44T>G, XM_017023359.3:c.44T>G, XM_017023359.2:c.44T>G, XM_017023359.1:c.44T>G, XM_017023361.3:c.146T>G, XM_017023361.2:c.146T>G, XM_017023361.1:c.146T>G, XM_017023362.3:c.146T>G, XM_017023362.2:c.146T>G, XM_017023362.1:c.146T>G, XM_017023360.3:c.44T>G, XM_017023360.2:c.44T>G, XM_017023360.1:c.44T>G, XM_017023364.3:c.146T>G, XM_017023364.2:c.146T>G, XM_017023364.1:c.146T>G, XM_017023367.3:c.44T>G, XM_017023367.2:c.44T>G, XM_017023367.1:c.44T>G, XM_017023369.3:c.44T>G, XM_017023369.2:c.44T>G, XM_017023369.1:c.44T>G, NM_001242820.2:c.44T>G, NM_001242820.1:c.44T>G, XM_017023363.2:c.227T>G, XM_017023363.1:c.227T>G, XM_017023365.2:c.227T>G, XM_017023365.1:c.227T>G, NM_001242818.2:c.44T>G, NM_001242818.1:c.44T>G, NM_001242816.2:c.44T>G, NM_001242816.1:c.44T>G, NM_001242822.2:c.44T>G, NM_001242822.1:c.44T>G, NM_001242821.2:c.44T>G, NM_001242821.1:c.44T>G, XM_047434272.1:c.227T>G, XM_047434273.1:c.44T>G, NM_001242819.1:c.44T>G, XP_005256375.2:p.Leu15Arg, XP_011521462.1:p.Leu76Arg, XP_011521463.1:p.Leu76Arg, XP_011521458.1:p.Leu15Arg, XP_011521459.1:p.Leu15Arg, XP_011521461.1:p.Leu49Arg, XP_011521464.1:p.Leu15Arg, NP_060172.1:p.Leu15Arg, XP_016878855.1:p.Leu15Arg, NP_997397.1:p.Leu76Arg, XP_016878847.1:p.Leu15Arg, XP_011521460.1:p.Leu15Arg, XP_016878848.1:p.Leu15Arg, XP_016878850.1:p.Leu49Arg, XP_016878851.1:p.Leu49Arg, XP_016878849.1:p.Leu15Arg, XP_016878853.1:p.Leu49Arg, XP_016878856.1:p.Leu15Arg, XP_016878858.1:p.Leu15Arg, NP_001229749.1:p.Leu15Arg, XP_016878852.1:p.Leu76Arg, XP_016878854.1:p.Leu76Arg, NP_001229747.1:p.Leu15Arg, NP_001229745.1:p.Leu15Arg, NP_001229751.1:p.Leu15Arg, NP_001229750.1:p.Leu15Arg, XP_047290228.1:p.Leu76Arg, XP_047290229.1:p.Leu15Arg, NP_001229748.1:p.Leu15Arg

                8.

                rs1480787894 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  16:89963378 (GRCh38)
                  16:90029786 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:89963377:A:G
                  Gene:
                  DEF8 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000016.10:g.89963378A>G, NC_000016.9:g.90029786A>G, XM_005256318.4:c.937A>G, XM_005256318.3:c.937A>G, XM_005256318.2:c.937A>G, XM_005256318.1:c.1246A>G, XM_011523160.4:c.1120A>G, XM_011523160.3:c.1120A>G, XM_011523160.2:c.1120A>G, XM_011523160.1:c.1120A>G, XM_011523161.4:c.1120A>G, XM_011523161.3:c.1120A>G, XM_011523161.2:c.1120A>G, XM_011523161.1:c.1120A>G, XM_011523156.4:c.937A>G, XM_011523156.3:c.937A>G, XM_011523156.2:c.937A>G, XM_011523156.1:c.937A>G, XM_011523157.4:c.937A>G, XM_011523157.3:c.937A>G, XM_011523157.2:c.937A>G, XM_011523157.1:c.937A>G, XM_011523159.4:c.1039A>G, XM_011523159.3:c.1039A>G, XM_011523159.2:c.1039A>G, XM_011523159.1:c.1039A>G, XM_011523162.4:c.937A>G, XM_011523162.3:c.937A>G, XM_011523162.2:c.937A>G, XM_011523162.1:c.937A>G, XM_017023366.3:c.937A>G, XM_017023366.2:c.937A>G, XM_017023366.1:c.937A>G, NM_207514.3:c.1120A>G, NM_207514.2:c.1120A>G, XM_017023358.3:c.937A>G, XM_017023358.2:c.937A>G, XM_017023358.1:c.937A>G, XM_011523158.3:c.937A>G, XM_011523158.2:c.937A>G, XM_011523158.1:c.937A>G, XM_017023359.3:c.937A>G, XM_017023359.2:c.937A>G, XM_017023359.1:c.937A>G, XM_017023361.3:c.1039A>G, XM_017023361.2:c.1039A>G, XM_017023361.1:c.1039A>G, XM_017023362.3:c.1039A>G, XM_017023362.2:c.1039A>G, XM_017023362.1:c.1039A>G, XM_017023360.3:c.937A>G, XM_017023360.2:c.937A>G, XM_017023360.1:c.937A>G, XM_017023364.3:c.1039A>G, XM_017023364.2:c.1039A>G, XM_017023364.1:c.1039A>G, XM_017023367.3:c.937A>G, XM_017023367.2:c.937A>G, XM_017023367.1:c.937A>G, XM_017023369.3:c.937A>G, XM_017023369.2:c.937A>G, XM_017023369.1:c.937A>G, NM_001242820.2:c.937A>G, NM_001242820.1:c.937A>G, XM_017023363.2:c.1120A>G, XM_017023363.1:c.1120A>G, XM_017023365.2:c.1120A>G, XM_017023365.1:c.1120A>G, NM_001242818.2:c.937A>G, NM_001242818.1:c.937A>G, NM_001242816.2:c.907A>G, NM_001242816.1:c.907A>G, NM_001242817.2:c.757A>G, NM_001242817.1:c.757A>G, XM_047434272.1:c.1120A>G, XM_047434273.1:c.937A>G, NM_001242819.1:c.937A>G, XP_005256375.2:p.Ile313Val, XP_011521462.1:p.Ile374Val, XP_011521463.1:p.Ile374Val, XP_011521458.1:p.Ile313Val, XP_011521459.1:p.Ile313Val, XP_011521461.1:p.Ile347Val, XP_011521464.1:p.Ile313Val, XP_016878855.1:p.Ile313Val, NP_997397.1:p.Ile374Val, XP_016878847.1:p.Ile313Val, XP_011521460.1:p.Ile313Val, XP_016878848.1:p.Ile313Val, XP_016878850.1:p.Ile347Val, XP_016878851.1:p.Ile347Val, XP_016878849.1:p.Ile313Val, XP_016878853.1:p.Ile347Val, XP_016878856.1:p.Ile313Val, XP_016878858.1:p.Ile313Val, NP_001229749.1:p.Ile313Val, XP_016878852.1:p.Ile374Val, XP_016878854.1:p.Ile374Val, NP_001229747.1:p.Ile313Val, NP_001229745.1:p.Ile303Val, NP_001229746.1:p.Ile253Val, XP_047290228.1:p.Ile374Val, XP_047290229.1:p.Ile313Val, NP_001229748.1:p.Ile313Val

                  9.

                  rs1471775603 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    16:89963370 (GRCh38)
                    16:90029778 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:89963369:G:A,NC_000016.10:89963369:G:T
                    Gene:
                    DEF8 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000016.10:g.89963370G>A, NC_000016.10:g.89963370G>T, NC_000016.9:g.90029778G>A, NC_000016.9:g.90029778G>T, XM_005256318.4:c.929G>A, XM_005256318.4:c.929G>T, XM_005256318.3:c.929G>A, XM_005256318.3:c.929G>T, XM_005256318.2:c.929G>A, XM_005256318.2:c.929G>T, XM_005256318.1:c.1238G>A, XM_005256318.1:c.1238G>T, XM_011523160.4:c.1112G>A, XM_011523160.4:c.1112G>T, XM_011523160.3:c.1112G>A, XM_011523160.3:c.1112G>T, XM_011523160.2:c.1112G>A, XM_011523160.2:c.1112G>T, XM_011523160.1:c.1112G>A, XM_011523160.1:c.1112G>T, XM_011523161.4:c.1112G>A, XM_011523161.4:c.1112G>T, XM_011523161.3:c.1112G>A, XM_011523161.3:c.1112G>T, XM_011523161.2:c.1112G>A, XM_011523161.2:c.1112G>T, XM_011523161.1:c.1112G>A, XM_011523161.1:c.1112G>T, XM_011523156.4:c.929G>A, XM_011523156.4:c.929G>T, XM_011523156.3:c.929G>A, XM_011523156.3:c.929G>T, XM_011523156.2:c.929G>A, XM_011523156.2:c.929G>T, XM_011523156.1:c.929G>A, XM_011523156.1:c.929G>T, XM_011523157.4:c.929G>A, XM_011523157.4:c.929G>T, XM_011523157.3:c.929G>A, XM_011523157.3:c.929G>T, XM_011523157.2:c.929G>A, XM_011523157.2:c.929G>T, XM_011523157.1:c.929G>A, XM_011523157.1:c.929G>T, XM_011523159.4:c.1031G>A, XM_011523159.4:c.1031G>T, XM_011523159.3:c.1031G>A, XM_011523159.3:c.1031G>T, XM_011523159.2:c.1031G>A, XM_011523159.2:c.1031G>T, XM_011523159.1:c.1031G>A, XM_011523159.1:c.1031G>T, XM_011523162.4:c.929G>A, XM_011523162.4:c.929G>T, XM_011523162.3:c.929G>A, XM_011523162.3:c.929G>T, XM_011523162.2:c.929G>A, XM_011523162.2:c.929G>T, XM_011523162.1:c.929G>A, XM_011523162.1:c.929G>T, XM_017023366.3:c.929G>A, XM_017023366.3:c.929G>T, XM_017023366.2:c.929G>A, XM_017023366.2:c.929G>T, XM_017023366.1:c.929G>A, XM_017023366.1:c.929G>T, NM_207514.3:c.1112G>A, NM_207514.3:c.1112G>T, NM_207514.2:c.1112G>A, NM_207514.2:c.1112G>T, XM_017023358.3:c.929G>A, XM_017023358.3:c.929G>T, XM_017023358.2:c.929G>A, XM_017023358.2:c.929G>T, XM_017023358.1:c.929G>A, XM_017023358.1:c.929G>T, XM_011523158.3:c.929G>A, XM_011523158.3:c.929G>T, XM_011523158.2:c.929G>A, XM_011523158.2:c.929G>T, XM_011523158.1:c.929G>A, XM_011523158.1:c.929G>T, XM_017023359.3:c.929G>A, XM_017023359.3:c.929G>T, XM_017023359.2:c.929G>A, XM_017023359.2:c.929G>T, XM_017023359.1:c.929G>A, XM_017023359.1:c.929G>T, XM_017023361.3:c.1031G>A, XM_017023361.3:c.1031G>T, XM_017023361.2:c.1031G>A, XM_017023361.2:c.1031G>T, XM_017023361.1:c.1031G>A, XM_017023361.1:c.1031G>T, XM_017023362.3:c.1031G>A, XM_017023362.3:c.1031G>T, XM_017023362.2:c.1031G>A, XM_017023362.2:c.1031G>T, XM_017023362.1:c.1031G>A, XM_017023362.1:c.1031G>T, XM_017023360.3:c.929G>A, XM_017023360.3:c.929G>T, XM_017023360.2:c.929G>A, XM_017023360.2:c.929G>T, XM_017023360.1:c.929G>A, XM_017023360.1:c.929G>T, XM_017023364.3:c.1031G>A, XM_017023364.3:c.1031G>T, XM_017023364.2:c.1031G>A, XM_017023364.2:c.1031G>T, XM_017023364.1:c.1031G>A, XM_017023364.1:c.1031G>T, XM_017023367.3:c.929G>A, XM_017023367.3:c.929G>T, XM_017023367.2:c.929G>A, XM_017023367.2:c.929G>T, XM_017023367.1:c.929G>A, XM_017023367.1:c.929G>T, XM_017023369.3:c.929G>A, XM_017023369.3:c.929G>T, XM_017023369.2:c.929G>A, XM_017023369.2:c.929G>T, XM_017023369.1:c.929G>A, XM_017023369.1:c.929G>T, NM_001242820.2:c.929G>A, NM_001242820.2:c.929G>T, NM_001242820.1:c.929G>A, NM_001242820.1:c.929G>T, XM_017023363.2:c.1112G>A, XM_017023363.2:c.1112G>T, XM_017023363.1:c.1112G>A, XM_017023363.1:c.1112G>T, XM_017023365.2:c.1112G>A, XM_017023365.2:c.1112G>T, XM_017023365.1:c.1112G>A, XM_017023365.1:c.1112G>T, NM_001242818.2:c.929G>A, NM_001242818.2:c.929G>T, NM_001242818.1:c.929G>A, NM_001242818.1:c.929G>T, NM_001242816.2:c.899G>A, NM_001242816.2:c.899G>T, NM_001242816.1:c.899G>A, NM_001242816.1:c.899G>T, NM_001242817.2:c.749G>A, NM_001242817.2:c.749G>T, NM_001242817.1:c.749G>A, NM_001242817.1:c.749G>T, XM_047434272.1:c.1112G>A, XM_047434272.1:c.1112G>T, XM_047434273.1:c.929G>A, XM_047434273.1:c.929G>T, NM_001242819.1:c.929G>A, NM_001242819.1:c.929G>T, XP_005256375.2:p.Arg310His, XP_005256375.2:p.Arg310Leu, XP_011521462.1:p.Arg371His, XP_011521462.1:p.Arg371Leu, XP_011521463.1:p.Arg371His, XP_011521463.1:p.Arg371Leu, XP_011521458.1:p.Arg310His, XP_011521458.1:p.Arg310Leu, XP_011521459.1:p.Arg310His, XP_011521459.1:p.Arg310Leu, XP_011521461.1:p.Arg344His, XP_011521461.1:p.Arg344Leu, XP_011521464.1:p.Arg310His, XP_011521464.1:p.Arg310Leu, XP_016878855.1:p.Arg310His, XP_016878855.1:p.Arg310Leu, NP_997397.1:p.Arg371His, NP_997397.1:p.Arg371Leu, XP_016878847.1:p.Arg310His, XP_016878847.1:p.Arg310Leu, XP_011521460.1:p.Arg310His, XP_011521460.1:p.Arg310Leu, XP_016878848.1:p.Arg310His, XP_016878848.1:p.Arg310Leu, XP_016878850.1:p.Arg344His, XP_016878850.1:p.Arg344Leu, XP_016878851.1:p.Arg344His, XP_016878851.1:p.Arg344Leu, XP_016878849.1:p.Arg310His, XP_016878849.1:p.Arg310Leu, XP_016878853.1:p.Arg344His, XP_016878853.1:p.Arg344Leu, XP_016878856.1:p.Arg310His, XP_016878856.1:p.Arg310Leu, XP_016878858.1:p.Arg310His, XP_016878858.1:p.Arg310Leu, NP_001229749.1:p.Arg310His, NP_001229749.1:p.Arg310Leu, XP_016878852.1:p.Arg371His, XP_016878852.1:p.Arg371Leu, XP_016878854.1:p.Arg371His, XP_016878854.1:p.Arg371Leu, NP_001229747.1:p.Arg310His, NP_001229747.1:p.Arg310Leu, NP_001229745.1:p.Arg300His, NP_001229745.1:p.Arg300Leu, NP_001229746.1:p.Arg250His, NP_001229746.1:p.Arg250Leu, XP_047290228.1:p.Arg371His, XP_047290228.1:p.Arg371Leu, XP_047290229.1:p.Arg310His, XP_047290229.1:p.Arg310Leu, NP_001229748.1:p.Arg310His, NP_001229748.1:p.Arg310Leu

                    10.

                    rs1470510736 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:89964261 (GRCh38)
                      16:90030669 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:89964260:T:C
                      Gene:
                      DEF8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00514/61 (ALFA)
                      C=0.00069/2 (KOREAN)
                      C=0.00089/15 (TOMMO)
                      HGVS:
                      NC_000016.10:g.89964261T>C, NC_000016.9:g.90030669T>C, XM_005256318.4:c.1043T>C, XM_005256318.3:c.1043T>C, XM_005256318.2:c.1043T>C, XM_005256318.1:c.1352T>C, NM_207514.3:c.1277T>C, NM_207514.2:c.1277T>C, XM_017023358.3:c.1094T>C, XM_017023358.2:c.1094T>C, XM_017023358.1:c.1094T>C, XM_011523158.3:c.1088T>C, XM_011523158.2:c.1088T>C, XM_011523158.1:c.1088T>C, XM_017023359.3:c.1088T>C, XM_017023359.2:c.1088T>C, XM_017023359.1:c.1088T>C, XM_017023361.3:c.1196T>C, XM_017023361.2:c.1196T>C, XM_017023361.1:c.1196T>C, XM_017023362.3:c.1190T>C, XM_017023362.2:c.1190T>C, XM_017023362.1:c.1190T>C, XM_017023360.3:c.1043T>C, XM_017023360.2:c.1043T>C, XM_017023360.1:c.1043T>C, XM_017023364.3:c.1145T>C, XM_017023364.2:c.1145T>C, XM_017023364.1:c.1145T>C, XM_017023367.3:c.1094T>C, XM_017023367.2:c.1094T>C, XM_017023367.1:c.1094T>C, XM_017023369.3:c.1043T>C, XM_017023369.2:c.1043T>C, XM_017023369.1:c.1043T>C, NM_001242820.2:c.1094T>C, NM_001242820.1:c.1094T>C, XM_017023363.2:c.1277T>C, XM_017023363.1:c.1277T>C, XM_017023365.2:c.1226T>C, XM_017023365.1:c.1226T>C, NM_001242818.2:c.1094T>C, NM_001242818.1:c.1094T>C, NM_001242816.2:c.1064T>C, NM_001242816.1:c.1064T>C, NM_001242817.2:c.914T>C, NM_001242817.1:c.914T>C, XM_047434272.1:c.1226T>C, XM_047434273.1:c.1088T>C, NM_001242819.1:c.1043T>C, XP_005256375.2:p.Leu348Pro, NP_997397.1:p.Leu426Pro, XP_016878847.1:p.Leu365Pro, XP_011521460.1:p.Leu363Pro, XP_016878848.1:p.Leu363Pro, XP_016878850.1:p.Leu399Pro, XP_016878851.1:p.Leu397Pro, XP_016878849.1:p.Leu348Pro, XP_016878853.1:p.Leu382Pro, XP_016878856.1:p.Leu365Pro, XP_016878858.1:p.Leu348Pro, NP_001229749.1:p.Leu365Pro, XP_016878852.1:p.Leu426Pro, XP_016878854.1:p.Leu409Pro, NP_001229747.1:p.Leu365Pro, NP_001229745.1:p.Leu355Pro, NP_001229746.1:p.Leu305Pro, XP_047290228.1:p.Leu409Pro, XP_047290229.1:p.Leu363Pro, NP_001229748.1:p.Leu348Pro

                      11.

                      rs1469532736 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A,C [Show Flanks]
                        Chromosome:
                        16:89957545 (GRCh38)
                        16:90023953 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:89957544:G:A,NC_000016.10:89957544:G:C
                        Gene:
                        DEF8 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000031/1 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000009/2 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.89957545G>A, NC_000016.10:g.89957545G>C, NC_000016.9:g.90023953G>A, NC_000016.9:g.90023953G>C, XM_005256318.4:c.257G>A, XM_005256318.4:c.257G>C, XM_005256318.3:c.257G>A, XM_005256318.3:c.257G>C, XM_005256318.2:c.257G>A, XM_005256318.2:c.257G>C, XM_005256318.1:c.566G>A, XM_005256318.1:c.566G>C, XM_011523160.4:c.440G>A, XM_011523160.4:c.440G>C, XM_011523160.3:c.440G>A, XM_011523160.3:c.440G>C, XM_011523160.2:c.440G>A, XM_011523160.2:c.440G>C, XM_011523160.1:c.440G>A, XM_011523160.1:c.440G>C, XM_011523161.4:c.440G>A, XM_011523161.4:c.440G>C, XM_011523161.3:c.440G>A, XM_011523161.3:c.440G>C, XM_011523161.2:c.440G>A, XM_011523161.2:c.440G>C, XM_011523161.1:c.440G>A, XM_011523161.1:c.440G>C, XM_011523156.4:c.257G>A, XM_011523156.4:c.257G>C, XM_011523156.3:c.257G>A, XM_011523156.3:c.257G>C, XM_011523156.2:c.257G>A, XM_011523156.2:c.257G>C, XM_011523156.1:c.257G>A, XM_011523156.1:c.257G>C, XM_011523157.4:c.257G>A, XM_011523157.4:c.257G>C, XM_011523157.3:c.257G>A, XM_011523157.3:c.257G>C, XM_011523157.2:c.257G>A, XM_011523157.2:c.257G>C, XM_011523157.1:c.257G>A, XM_011523157.1:c.257G>C, XM_011523159.4:c.359G>A, XM_011523159.4:c.359G>C, XM_011523159.3:c.359G>A, XM_011523159.3:c.359G>C, XM_011523159.2:c.359G>A, XM_011523159.2:c.359G>C, XM_011523159.1:c.359G>A, XM_011523159.1:c.359G>C, XM_011523162.4:c.257G>A, XM_011523162.4:c.257G>C, XM_011523162.3:c.257G>A, XM_011523162.3:c.257G>C, XM_011523162.2:c.257G>A, XM_011523162.2:c.257G>C, XM_011523162.1:c.257G>A, XM_011523162.1:c.257G>C, NM_017702.4:c.257G>A, NM_017702.4:c.257G>C, NM_017702.3:c.257G>A, NM_017702.3:c.257G>C, XM_017023366.3:c.257G>A, XM_017023366.3:c.257G>C, XM_017023366.2:c.257G>A, XM_017023366.2:c.257G>C, XM_017023366.1:c.257G>A, XM_017023366.1:c.257G>C, NM_207514.3:c.440G>A, NM_207514.3:c.440G>C, NM_207514.2:c.440G>A, NM_207514.2:c.440G>C, XM_017023358.3:c.257G>A, XM_017023358.3:c.257G>C, XM_017023358.2:c.257G>A, XM_017023358.2:c.257G>C, XM_017023358.1:c.257G>A, XM_017023358.1:c.257G>C, XM_011523158.3:c.257G>A, XM_011523158.3:c.257G>C, XM_011523158.2:c.257G>A, XM_011523158.2:c.257G>C, XM_011523158.1:c.257G>A, XM_011523158.1:c.257G>C, XM_017023359.3:c.257G>A, XM_017023359.3:c.257G>C, XM_017023359.2:c.257G>A, XM_017023359.2:c.257G>C, XM_017023359.1:c.257G>A, XM_017023359.1:c.257G>C, XM_017023361.3:c.359G>A, XM_017023361.3:c.359G>C, XM_017023361.2:c.359G>A, XM_017023361.2:c.359G>C, XM_017023361.1:c.359G>A, XM_017023361.1:c.359G>C, XM_017023362.3:c.359G>A, XM_017023362.3:c.359G>C, XM_017023362.2:c.359G>A, XM_017023362.2:c.359G>C, XM_017023362.1:c.359G>A, XM_017023362.1:c.359G>C, XM_017023360.3:c.257G>A, XM_017023360.3:c.257G>C, XM_017023360.2:c.257G>A, XM_017023360.2:c.257G>C, XM_017023360.1:c.257G>A, XM_017023360.1:c.257G>C, XM_017023364.3:c.359G>A, XM_017023364.3:c.359G>C, XM_017023364.2:c.359G>A, XM_017023364.2:c.359G>C, XM_017023364.1:c.359G>A, XM_017023364.1:c.359G>C, XM_017023367.3:c.257G>A, XM_017023367.3:c.257G>C, XM_017023367.2:c.257G>A, XM_017023367.2:c.257G>C, XM_017023367.1:c.257G>A, XM_017023367.1:c.257G>C, XM_017023369.3:c.257G>A, XM_017023369.3:c.257G>C, XM_017023369.2:c.257G>A, XM_017023369.2:c.257G>C, XM_017023369.1:c.257G>A, XM_017023369.1:c.257G>C, NM_001242820.2:c.257G>A, NM_001242820.2:c.257G>C, NM_001242820.1:c.257G>A, NM_001242820.1:c.257G>C, XM_017023363.2:c.440G>A, XM_017023363.2:c.440G>C, XM_017023363.1:c.440G>A, XM_017023363.1:c.440G>C, XM_017023365.2:c.440G>A, XM_017023365.2:c.440G>C, XM_017023365.1:c.440G>A, XM_017023365.1:c.440G>C, NM_001242818.2:c.257G>A, NM_001242818.2:c.257G>C, NM_001242818.1:c.257G>A, NM_001242818.1:c.257G>C, NM_001242816.2:c.227G>A, NM_001242816.2:c.227G>C, NM_001242816.1:c.227G>A, NM_001242816.1:c.227G>C, NM_001242817.2:c.77G>A, NM_001242817.2:c.77G>C, NM_001242817.1:c.77G>A, NM_001242817.1:c.77G>C, NM_001242822.2:c.257G>A, NM_001242822.2:c.257G>C, NM_001242822.1:c.257G>A, NM_001242822.1:c.257G>C, NM_001242821.2:c.257G>A, NM_001242821.2:c.257G>C, NM_001242821.1:c.257G>A, NM_001242821.1:c.257G>C, XM_047434272.1:c.440G>A, XM_047434272.1:c.440G>C, XM_047434273.1:c.257G>A, XM_047434273.1:c.257G>C, NM_001242819.1:c.257G>A, NM_001242819.1:c.257G>C, XP_005256375.2:p.Arg86Gln, XP_005256375.2:p.Arg86Pro, XP_011521462.1:p.Arg147Gln, XP_011521462.1:p.Arg147Pro, XP_011521463.1:p.Arg147Gln, XP_011521463.1:p.Arg147Pro, XP_011521458.1:p.Arg86Gln, XP_011521458.1:p.Arg86Pro, XP_011521459.1:p.Arg86Gln, XP_011521459.1:p.Arg86Pro, XP_011521461.1:p.Arg120Gln, XP_011521461.1:p.Arg120Pro, XP_011521464.1:p.Arg86Gln, XP_011521464.1:p.Arg86Pro, NP_060172.1:p.Arg86Gln, NP_060172.1:p.Arg86Pro, XP_016878855.1:p.Arg86Gln, XP_016878855.1:p.Arg86Pro, NP_997397.1:p.Arg147Gln, NP_997397.1:p.Arg147Pro, XP_016878847.1:p.Arg86Gln, XP_016878847.1:p.Arg86Pro, XP_011521460.1:p.Arg86Gln, XP_011521460.1:p.Arg86Pro, XP_016878848.1:p.Arg86Gln, XP_016878848.1:p.Arg86Pro, XP_016878850.1:p.Arg120Gln, XP_016878850.1:p.Arg120Pro, XP_016878851.1:p.Arg120Gln, XP_016878851.1:p.Arg120Pro, XP_016878849.1:p.Arg86Gln, XP_016878849.1:p.Arg86Pro, XP_016878853.1:p.Arg120Gln, XP_016878853.1:p.Arg120Pro, XP_016878856.1:p.Arg86Gln, XP_016878856.1:p.Arg86Pro, XP_016878858.1:p.Arg86Gln, XP_016878858.1:p.Arg86Pro, NP_001229749.1:p.Arg86Gln, NP_001229749.1:p.Arg86Pro, XP_016878852.1:p.Arg147Gln, XP_016878852.1:p.Arg147Pro, XP_016878854.1:p.Arg147Gln, XP_016878854.1:p.Arg147Pro, NP_001229747.1:p.Arg86Gln, NP_001229747.1:p.Arg86Pro, NP_001229745.1:p.Arg76Gln, NP_001229745.1:p.Arg76Pro, NP_001229746.1:p.Arg26Gln, NP_001229746.1:p.Arg26Pro, NP_001229751.1:p.Arg86Gln, NP_001229751.1:p.Arg86Pro, NP_001229750.1:p.Arg86Gln, NP_001229750.1:p.Arg86Pro, XP_047290228.1:p.Arg147Gln, XP_047290228.1:p.Arg147Pro, XP_047290229.1:p.Arg86Gln, XP_047290229.1:p.Arg86Pro, NP_001229748.1:p.Arg86Gln, NP_001229748.1:p.Arg86Pro

                        12.

                        rs1469265474 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          16:89959015 (GRCh38)
                          16:90025423 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:89959014:A:G
                          Gene:
                          DEF8 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000016.10:g.89959015A>G, NC_000016.9:g.90025423A>G, XM_005256318.4:c.374A>G, XM_005256318.3:c.374A>G, XM_005256318.2:c.374A>G, XM_005256318.1:c.683A>G, XM_011523160.4:c.557A>G, XM_011523160.3:c.557A>G, XM_011523160.2:c.557A>G, XM_011523160.1:c.557A>G, XM_011523161.4:c.557A>G, XM_011523161.3:c.557A>G, XM_011523161.2:c.557A>G, XM_011523161.1:c.557A>G, XM_011523156.4:c.374A>G, XM_011523156.3:c.374A>G, XM_011523156.2:c.374A>G, XM_011523156.1:c.374A>G, XM_011523157.4:c.374A>G, XM_011523157.3:c.374A>G, XM_011523157.2:c.374A>G, XM_011523157.1:c.374A>G, XM_011523159.4:c.476A>G, XM_011523159.3:c.476A>G, XM_011523159.2:c.476A>G, XM_011523159.1:c.476A>G, XM_011523162.4:c.374A>G, XM_011523162.3:c.374A>G, XM_011523162.2:c.374A>G, XM_011523162.1:c.374A>G, NM_017702.4:c.374A>G, NM_017702.3:c.374A>G, XM_017023366.3:c.374A>G, XM_017023366.2:c.374A>G, XM_017023366.1:c.374A>G, NM_207514.3:c.557A>G, NM_207514.2:c.557A>G, XM_017023358.3:c.374A>G, XM_017023358.2:c.374A>G, XM_017023358.1:c.374A>G, XM_011523158.3:c.374A>G, XM_011523158.2:c.374A>G, XM_011523158.1:c.374A>G, XM_017023359.3:c.374A>G, XM_017023359.2:c.374A>G, XM_017023359.1:c.374A>G, XM_017023361.3:c.476A>G, XM_017023361.2:c.476A>G, XM_017023361.1:c.476A>G, XM_017023362.3:c.476A>G, XM_017023362.2:c.476A>G, XM_017023362.1:c.476A>G, XM_017023360.3:c.374A>G, XM_017023360.2:c.374A>G, XM_017023360.1:c.374A>G, XM_017023364.3:c.476A>G, XM_017023364.2:c.476A>G, XM_017023364.1:c.476A>G, XM_017023367.3:c.374A>G, XM_017023367.2:c.374A>G, XM_017023367.1:c.374A>G, XM_017023369.3:c.374A>G, XM_017023369.2:c.374A>G, XM_017023369.1:c.374A>G, NM_001242820.2:c.374A>G, NM_001242820.1:c.374A>G, XM_017023363.2:c.557A>G, XM_017023363.1:c.557A>G, XM_017023365.2:c.557A>G, XM_017023365.1:c.557A>G, NM_001242818.2:c.374A>G, NM_001242818.1:c.374A>G, NM_001242816.2:c.344A>G, NM_001242816.1:c.344A>G, NM_001242817.2:c.194A>G, NM_001242817.1:c.194A>G, NM_001242822.2:c.374A>G, NM_001242822.1:c.374A>G, NM_001242821.2:c.374A>G, NM_001242821.1:c.374A>G, XM_047434272.1:c.557A>G, XM_047434273.1:c.374A>G, NM_001242819.1:c.374A>G, XP_005256375.2:p.Asp125Gly, XP_011521462.1:p.Asp186Gly, XP_011521463.1:p.Asp186Gly, XP_011521458.1:p.Asp125Gly, XP_011521459.1:p.Asp125Gly, XP_011521461.1:p.Asp159Gly, XP_011521464.1:p.Asp125Gly, NP_060172.1:p.Asp125Gly, XP_016878855.1:p.Asp125Gly, NP_997397.1:p.Asp186Gly, XP_016878847.1:p.Asp125Gly, XP_011521460.1:p.Asp125Gly, XP_016878848.1:p.Asp125Gly, XP_016878850.1:p.Asp159Gly, XP_016878851.1:p.Asp159Gly, XP_016878849.1:p.Asp125Gly, XP_016878853.1:p.Asp159Gly, XP_016878856.1:p.Asp125Gly, XP_016878858.1:p.Asp125Gly, NP_001229749.1:p.Asp125Gly, XP_016878852.1:p.Asp186Gly, XP_016878854.1:p.Asp186Gly, NP_001229747.1:p.Asp125Gly, NP_001229745.1:p.Asp115Gly, NP_001229746.1:p.Asp65Gly, NP_001229751.1:p.Asp125Gly, NP_001229750.1:p.Asp125Gly, XP_047290228.1:p.Asp186Gly, XP_047290229.1:p.Asp125Gly, NP_001229748.1:p.Asp125Gly

                          13.

                          rs1469157549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            16:89954252 (GRCh38)
                            16:90020660 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:89954251:T:C
                            Gene:
                            DEF8 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000016.10:g.89954252T>C, NC_000016.9:g.90020660T>C, XM_005256318.4:c.-1T>C, XM_005256318.3:c.-1T>C, XM_005256318.2:c.-1T>C, XM_005256318.1:c.309T>C, XM_011523160.4:c.183T>C, XM_011523160.3:c.183T>C, XM_011523160.2:c.183T>C, XM_011523160.1:c.183T>C, XM_011523161.4:c.183T>C, XM_011523161.3:c.183T>C, XM_011523161.2:c.183T>C, XM_011523161.1:c.183T>C, XM_011523156.4:c.-1T>C, XM_011523156.3:c.-1T>C, XM_011523156.2:c.-1T>C, XM_011523156.1:c.-1T>C, XM_011523157.4:c.-1T>C, XM_011523157.3:c.-1T>C, XM_011523157.2:c.-1T>C, XM_011523157.1:c.-1T>C, XM_011523159.4:c.102T>C, XM_011523159.3:c.102T>C, XM_011523159.2:c.102T>C, XM_011523159.1:c.102T>C, XM_011523162.4:c.-1T>C, XM_011523162.3:c.-1T>C, XM_011523162.2:c.-1T>C, XM_011523162.1:c.-1T>C, NM_017702.4:c.-1T>C, NM_017702.3:c.-1T>C, XM_017023366.3:c.-1T>C, XM_017023366.2:c.-1T>C, XM_017023366.1:c.-1T>C, NM_207514.3:c.183T>C, NM_207514.2:c.183T>C, XM_017023358.3:c.-1T>C, XM_017023358.2:c.-1T>C, XM_017023358.1:c.-1T>C, XM_011523158.3:c.-1T>C, XM_011523158.2:c.-1T>C, XM_011523158.1:c.-1T>C, XM_017023359.3:c.-1T>C, XM_017023359.2:c.-1T>C, XM_017023359.1:c.-1T>C, XM_017023361.3:c.102T>C, XM_017023361.2:c.102T>C, XM_017023361.1:c.102T>C, XM_017023362.3:c.102T>C, XM_017023362.2:c.102T>C, XM_017023362.1:c.102T>C, XM_017023360.3:c.-1T>C, XM_017023360.2:c.-1T>C, XM_017023360.1:c.-1T>C, XM_017023364.3:c.102T>C, XM_017023364.2:c.102T>C, XM_017023364.1:c.102T>C, XM_017023367.3:c.-1T>C, XM_017023367.2:c.-1T>C, XM_017023367.1:c.-1T>C, XM_017023369.3:c.-1T>C, XM_017023369.2:c.-1T>C, XM_017023369.1:c.-1T>C, NM_001242820.2:c.-1T>C, NM_001242820.1:c.-1T>C, XM_017023363.2:c.183T>C, XM_017023363.1:c.183T>C, XM_017023365.2:c.183T>C, XM_017023365.1:c.183T>C, NM_001242818.2:c.-1T>C, NM_001242818.1:c.-1T>C, NM_001242816.2:c.-1T>C, NM_001242816.1:c.-1T>C, NM_001242822.2:c.-1T>C, NM_001242822.1:c.-1T>C, NM_001242821.2:c.-1T>C, NM_001242821.1:c.-1T>C, XM_047434272.1:c.183T>C, XM_047434273.1:c.-1T>C, NM_001242819.1:c.-1T>C

                            14.

                            rs1468926753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              16:89964539 (GRCh38)
                              16:90030947 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:89964538:C:A,NC_000016.10:89964538:C:G,NC_000016.10:89964538:C:T
                              Gene:
                              DEF8 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000016.10:g.89964539C>A, NC_000016.10:g.89964539C>G, NC_000016.10:g.89964539C>T, NC_000016.9:g.90030947C>A, NC_000016.9:g.90030947C>G, NC_000016.9:g.90030947C>T, XM_005256318.4:c.1166C>A, XM_005256318.4:c.1166C>G, XM_005256318.4:c.1166C>T, XM_005256318.3:c.1166C>A, XM_005256318.3:c.1166C>G, XM_005256318.3:c.1166C>T, XM_005256318.2:c.1166C>A, XM_005256318.2:c.1166C>G, XM_005256318.2:c.1166C>T, XM_005256318.1:c.1475C>A, XM_005256318.1:c.1475C>G, XM_005256318.1:c.1475C>T, NM_207514.3:c.1400C>A, NM_207514.3:c.1400C>G, NM_207514.3:c.1400C>T, NM_207514.2:c.1400C>A, NM_207514.2:c.1400C>G, NM_207514.2:c.1400C>T, XM_017023358.3:c.1217C>A, XM_017023358.3:c.1217C>G, XM_017023358.3:c.1217C>T, XM_017023358.2:c.1217C>A, XM_017023358.2:c.1217C>G, XM_017023358.2:c.1217C>T, XM_017023358.1:c.1217C>A, XM_017023358.1:c.1217C>G, XM_017023358.1:c.1217C>T, XM_011523158.3:c.1211C>A, XM_011523158.3:c.1211C>G, XM_011523158.3:c.1211C>T, XM_011523158.2:c.1211C>A, XM_011523158.2:c.1211C>G, XM_011523158.2:c.1211C>T, XM_011523158.1:c.1211C>A, XM_011523158.1:c.1211C>G, XM_011523158.1:c.1211C>T, XM_017023359.3:c.1211C>A, XM_017023359.3:c.1211C>G, XM_017023359.3:c.1211C>T, XM_017023359.2:c.1211C>A, XM_017023359.2:c.1211C>G, XM_017023359.2:c.1211C>T, XM_017023359.1:c.1211C>A, XM_017023359.1:c.1211C>G, XM_017023359.1:c.1211C>T, XM_017023361.3:c.1319C>A, XM_017023361.3:c.1319C>G, XM_017023361.3:c.1319C>T, XM_017023361.2:c.1319C>A, XM_017023361.2:c.1319C>G, XM_017023361.2:c.1319C>T, XM_017023361.1:c.1319C>A, XM_017023361.1:c.1319C>G, XM_017023361.1:c.1319C>T, XM_017023362.3:c.1313C>A, XM_017023362.3:c.1313C>G, XM_017023362.3:c.1313C>T, XM_017023362.2:c.1313C>A, XM_017023362.2:c.1313C>G, XM_017023362.2:c.1313C>T, XM_017023362.1:c.1313C>A, XM_017023362.1:c.1313C>G, XM_017023362.1:c.1313C>T, XM_017023360.3:c.1166C>A, XM_017023360.3:c.1166C>G, XM_017023360.3:c.1166C>T, XM_017023360.2:c.1166C>A, XM_017023360.2:c.1166C>G, XM_017023360.2:c.1166C>T, XM_017023360.1:c.1166C>A, XM_017023360.1:c.1166C>G, XM_017023360.1:c.1166C>T, XM_017023364.3:c.1268C>A, XM_017023364.3:c.1268C>G, XM_017023364.3:c.1268C>T, XM_017023364.2:c.1268C>A, XM_017023364.2:c.1268C>G, XM_017023364.2:c.1268C>T, XM_017023364.1:c.1268C>A, XM_017023364.1:c.1268C>G, XM_017023364.1:c.1268C>T, XM_017023367.3:c.1217C>A, XM_017023367.3:c.1217C>G, XM_017023367.3:c.1217C>T, XM_017023367.2:c.1217C>A, XM_017023367.2:c.1217C>G, XM_017023367.2:c.1217C>T, XM_017023367.1:c.1217C>A, XM_017023367.1:c.1217C>G, XM_017023367.1:c.1217C>T, XM_017023369.3:c.1166C>A, XM_017023369.3:c.1166C>G, XM_017023369.3:c.1166C>T, XM_017023369.2:c.1166C>A, XM_017023369.2:c.1166C>G, XM_017023369.2:c.1166C>T, XM_017023369.1:c.1166C>A, XM_017023369.1:c.1166C>G, XM_017023369.1:c.1166C>T, NM_001242820.2:c.1217C>A, NM_001242820.2:c.1217C>G, NM_001242820.2:c.1217C>T, NM_001242820.1:c.1217C>A, NM_001242820.1:c.1217C>G, NM_001242820.1:c.1217C>T, XM_017023363.2:c.1400C>A, XM_017023363.2:c.1400C>G, XM_017023363.2:c.1400C>T, XM_017023363.1:c.1400C>A, XM_017023363.1:c.1400C>G, XM_017023363.1:c.1400C>T, XM_017023365.2:c.1349C>A, XM_017023365.2:c.1349C>G, XM_017023365.2:c.1349C>T, XM_017023365.1:c.1349C>A, XM_017023365.1:c.1349C>G, XM_017023365.1:c.1349C>T, NM_001242818.2:c.1217C>A, NM_001242818.2:c.1217C>G, NM_001242818.2:c.1217C>T, NM_001242818.1:c.1217C>A, NM_001242818.1:c.1217C>G, NM_001242818.1:c.1217C>T, NM_001242816.2:c.1187C>A, NM_001242816.2:c.1187C>G, NM_001242816.2:c.1187C>T, NM_001242816.1:c.1187C>A, NM_001242816.1:c.1187C>G, NM_001242816.1:c.1187C>T, NM_001242817.2:c.1037C>A, NM_001242817.2:c.1037C>G, NM_001242817.2:c.1037C>T, NM_001242817.1:c.1037C>A, NM_001242817.1:c.1037C>G, NM_001242817.1:c.1037C>T, XM_047434272.1:c.1349C>A, XM_047434272.1:c.1349C>G, XM_047434272.1:c.1349C>T, XM_047434273.1:c.1211C>A, XM_047434273.1:c.1211C>G, XM_047434273.1:c.1211C>T, NM_001242819.1:c.1166C>A, NM_001242819.1:c.1166C>G, NM_001242819.1:c.1166C>T, XP_005256375.2:p.Thr389Lys, XP_005256375.2:p.Thr389Arg, XP_005256375.2:p.Thr389Met, NP_997397.1:p.Thr467Lys, NP_997397.1:p.Thr467Arg, NP_997397.1:p.Thr467Met, XP_016878847.1:p.Thr406Lys, XP_016878847.1:p.Thr406Arg, XP_016878847.1:p.Thr406Met, XP_011521460.1:p.Thr404Lys, XP_011521460.1:p.Thr404Arg, XP_011521460.1:p.Thr404Met, XP_016878848.1:p.Thr404Lys, XP_016878848.1:p.Thr404Arg, XP_016878848.1:p.Thr404Met, XP_016878850.1:p.Thr440Lys, XP_016878850.1:p.Thr440Arg, XP_016878850.1:p.Thr440Met, XP_016878851.1:p.Thr438Lys, XP_016878851.1:p.Thr438Arg, XP_016878851.1:p.Thr438Met, XP_016878849.1:p.Thr389Lys, XP_016878849.1:p.Thr389Arg, XP_016878849.1:p.Thr389Met, XP_016878853.1:p.Thr423Lys, XP_016878853.1:p.Thr423Arg, XP_016878853.1:p.Thr423Met, XP_016878856.1:p.Thr406Lys, XP_016878856.1:p.Thr406Arg, XP_016878856.1:p.Thr406Met, XP_016878858.1:p.Thr389Lys, XP_016878858.1:p.Thr389Arg, XP_016878858.1:p.Thr389Met, NP_001229749.1:p.Thr406Lys, NP_001229749.1:p.Thr406Arg, NP_001229749.1:p.Thr406Met, XP_016878852.1:p.Thr467Lys, XP_016878852.1:p.Thr467Arg, XP_016878852.1:p.Thr467Met, XP_016878854.1:p.Thr450Lys, XP_016878854.1:p.Thr450Arg, XP_016878854.1:p.Thr450Met, NP_001229747.1:p.Thr406Lys, NP_001229747.1:p.Thr406Arg, NP_001229747.1:p.Thr406Met, NP_001229745.1:p.Thr396Lys, NP_001229745.1:p.Thr396Arg, NP_001229745.1:p.Thr396Met, NP_001229746.1:p.Thr346Lys, NP_001229746.1:p.Thr346Arg, NP_001229746.1:p.Thr346Met, XP_047290228.1:p.Thr450Lys, XP_047290228.1:p.Thr450Arg, XP_047290228.1:p.Thr450Met, XP_047290229.1:p.Thr404Lys, XP_047290229.1:p.Thr404Arg, XP_047290229.1:p.Thr404Met, NP_001229748.1:p.Thr389Lys, NP_001229748.1:p.Thr389Arg, NP_001229748.1:p.Thr389Met

                              15.

                              rs1467950138 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                16:89964551 (GRCh38)
                                16:90030959 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:89964550:C:G,NC_000016.10:89964550:C:T
                                Gene:
                                DEF8 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000016.10:g.89964551C>G, NC_000016.10:g.89964551C>T, NC_000016.9:g.90030959C>G, NC_000016.9:g.90030959C>T, XM_005256318.4:c.1178C>G, XM_005256318.4:c.1178C>T, XM_005256318.3:c.1178C>G, XM_005256318.3:c.1178C>T, XM_005256318.2:c.1178C>G, XM_005256318.2:c.1178C>T, XM_005256318.1:c.1487C>G, XM_005256318.1:c.1487C>T, NM_207514.3:c.1412C>G, NM_207514.3:c.1412C>T, NM_207514.2:c.1412C>G, NM_207514.2:c.1412C>T, XM_017023358.3:c.1229C>G, XM_017023358.3:c.1229C>T, XM_017023358.2:c.1229C>G, XM_017023358.2:c.1229C>T, XM_017023358.1:c.1229C>G, XM_017023358.1:c.1229C>T, XM_011523158.3:c.1223C>G, XM_011523158.3:c.1223C>T, XM_011523158.2:c.1223C>G, XM_011523158.2:c.1223C>T, XM_011523158.1:c.1223C>G, XM_011523158.1:c.1223C>T, XM_017023359.3:c.1223C>G, XM_017023359.3:c.1223C>T, XM_017023359.2:c.1223C>G, XM_017023359.2:c.1223C>T, XM_017023359.1:c.1223C>G, XM_017023359.1:c.1223C>T, XM_017023361.3:c.1331C>G, XM_017023361.3:c.1331C>T, XM_017023361.2:c.1331C>G, XM_017023361.2:c.1331C>T, XM_017023361.1:c.1331C>G, XM_017023361.1:c.1331C>T, XM_017023362.3:c.1325C>G, XM_017023362.3:c.1325C>T, XM_017023362.2:c.1325C>G, XM_017023362.2:c.1325C>T, XM_017023362.1:c.1325C>G, XM_017023362.1:c.1325C>T, XM_017023360.3:c.1178C>G, XM_017023360.3:c.1178C>T, XM_017023360.2:c.1178C>G, XM_017023360.2:c.1178C>T, XM_017023360.1:c.1178C>G, XM_017023360.1:c.1178C>T, XM_017023364.3:c.1280C>G, XM_017023364.3:c.1280C>T, XM_017023364.2:c.1280C>G, XM_017023364.2:c.1280C>T, XM_017023364.1:c.1280C>G, XM_017023364.1:c.1280C>T, XM_017023367.3:c.1229C>G, XM_017023367.3:c.1229C>T, XM_017023367.2:c.1229C>G, XM_017023367.2:c.1229C>T, XM_017023367.1:c.1229C>G, XM_017023367.1:c.1229C>T, XM_017023369.3:c.1178C>G, XM_017023369.3:c.1178C>T, XM_017023369.2:c.1178C>G, XM_017023369.2:c.1178C>T, XM_017023369.1:c.1178C>G, XM_017023369.1:c.1178C>T, NM_001242820.2:c.1229C>G, NM_001242820.2:c.1229C>T, NM_001242820.1:c.1229C>G, NM_001242820.1:c.1229C>T, XM_017023363.2:c.1412C>G, XM_017023363.2:c.1412C>T, XM_017023363.1:c.1412C>G, XM_017023363.1:c.1412C>T, XM_017023365.2:c.1361C>G, XM_017023365.2:c.1361C>T, XM_017023365.1:c.1361C>G, XM_017023365.1:c.1361C>T, NM_001242818.2:c.1229C>G, NM_001242818.2:c.1229C>T, NM_001242818.1:c.1229C>G, NM_001242818.1:c.1229C>T, NM_001242816.2:c.1199C>G, NM_001242816.2:c.1199C>T, NM_001242816.1:c.1199C>G, NM_001242816.1:c.1199C>T, NM_001242817.2:c.1049C>G, NM_001242817.2:c.1049C>T, NM_001242817.1:c.1049C>G, NM_001242817.1:c.1049C>T, XM_047434272.1:c.1361C>G, XM_047434272.1:c.1361C>T, XM_047434273.1:c.1223C>G, XM_047434273.1:c.1223C>T, NM_001242819.1:c.1178C>G, NM_001242819.1:c.1178C>T, XP_005256375.2:p.Ala393Gly, XP_005256375.2:p.Ala393Val, NP_997397.1:p.Ala471Gly, NP_997397.1:p.Ala471Val, XP_016878847.1:p.Ala410Gly, XP_016878847.1:p.Ala410Val, XP_011521460.1:p.Ala408Gly, XP_011521460.1:p.Ala408Val, XP_016878848.1:p.Ala408Gly, XP_016878848.1:p.Ala408Val, XP_016878850.1:p.Ala444Gly, XP_016878850.1:p.Ala444Val, XP_016878851.1:p.Ala442Gly, XP_016878851.1:p.Ala442Val, XP_016878849.1:p.Ala393Gly, XP_016878849.1:p.Ala393Val, XP_016878853.1:p.Ala427Gly, XP_016878853.1:p.Ala427Val, XP_016878856.1:p.Ala410Gly, XP_016878856.1:p.Ala410Val, XP_016878858.1:p.Ala393Gly, XP_016878858.1:p.Ala393Val, NP_001229749.1:p.Ala410Gly, NP_001229749.1:p.Ala410Val, XP_016878852.1:p.Ala471Gly, XP_016878852.1:p.Ala471Val, XP_016878854.1:p.Ala454Gly, XP_016878854.1:p.Ala454Val, NP_001229747.1:p.Ala410Gly, NP_001229747.1:p.Ala410Val, NP_001229745.1:p.Ala400Gly, NP_001229745.1:p.Ala400Val, NP_001229746.1:p.Ala350Gly, NP_001229746.1:p.Ala350Val, XP_047290228.1:p.Ala454Gly, XP_047290228.1:p.Ala454Val, XP_047290229.1:p.Ala408Gly, XP_047290229.1:p.Ala408Val, NP_001229748.1:p.Ala393Gly, NP_001229748.1:p.Ala393Val

                                16.

                                rs1467305638 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  16:89959074 (GRCh38)
                                  16:90025482 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:89959073:A:T
                                  Gene:
                                  DEF8 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,stop_gained
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000111/1 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.89959074A>T, NC_000016.9:g.90025482A>T, XM_005256318.4:c.433A>T, XM_005256318.3:c.433A>T, XM_005256318.2:c.433A>T, XM_005256318.1:c.742A>T, XM_011523160.4:c.616A>T, XM_011523160.3:c.616A>T, XM_011523160.2:c.616A>T, XM_011523160.1:c.616A>T, XM_011523161.4:c.616A>T, XM_011523161.3:c.616A>T, XM_011523161.2:c.616A>T, XM_011523161.1:c.616A>T, XM_011523156.4:c.433A>T, XM_011523156.3:c.433A>T, XM_011523156.2:c.433A>T, XM_011523156.1:c.433A>T, XM_011523157.4:c.433A>T, XM_011523157.3:c.433A>T, XM_011523157.2:c.433A>T, XM_011523157.1:c.433A>T, XM_011523159.4:c.535A>T, XM_011523159.3:c.535A>T, XM_011523159.2:c.535A>T, XM_011523159.1:c.535A>T, XM_011523162.4:c.433A>T, XM_011523162.3:c.433A>T, XM_011523162.2:c.433A>T, XM_011523162.1:c.433A>T, NM_017702.4:c.433A>T, NM_017702.3:c.433A>T, XM_017023366.3:c.433A>T, XM_017023366.2:c.433A>T, XM_017023366.1:c.433A>T, NM_207514.3:c.616A>T, NM_207514.2:c.616A>T, XM_017023358.3:c.433A>T, XM_017023358.2:c.433A>T, XM_017023358.1:c.433A>T, XM_011523158.3:c.433A>T, XM_011523158.2:c.433A>T, XM_011523158.1:c.433A>T, XM_017023359.3:c.433A>T, XM_017023359.2:c.433A>T, XM_017023359.1:c.433A>T, XM_017023361.3:c.535A>T, XM_017023361.2:c.535A>T, XM_017023361.1:c.535A>T, XM_017023362.3:c.535A>T, XM_017023362.2:c.535A>T, XM_017023362.1:c.535A>T, XM_017023360.3:c.433A>T, XM_017023360.2:c.433A>T, XM_017023360.1:c.433A>T, XM_017023364.3:c.535A>T, XM_017023364.2:c.535A>T, XM_017023364.1:c.535A>T, XM_017023367.3:c.433A>T, XM_017023367.2:c.433A>T, XM_017023367.1:c.433A>T, XM_017023369.3:c.433A>T, XM_017023369.2:c.433A>T, XM_017023369.1:c.433A>T, NM_001242820.2:c.433A>T, NM_001242820.1:c.433A>T, XM_017023363.2:c.616A>T, XM_017023363.1:c.616A>T, XM_017023365.2:c.616A>T, XM_017023365.1:c.616A>T, NM_001242818.2:c.433A>T, NM_001242818.1:c.433A>T, NM_001242816.2:c.403A>T, NM_001242816.1:c.403A>T, NM_001242817.2:c.253A>T, NM_001242817.1:c.253A>T, NM_001242822.2:c.433A>T, NM_001242822.1:c.433A>T, NM_001242821.2:c.433A>T, NM_001242821.1:c.433A>T, XM_047434272.1:c.616A>T, XM_047434273.1:c.433A>T, NM_001242819.1:c.433A>T, XP_005256375.2:p.Lys145Ter, XP_011521462.1:p.Lys206Ter, XP_011521463.1:p.Lys206Ter, XP_011521458.1:p.Lys145Ter, XP_011521459.1:p.Lys145Ter, XP_011521461.1:p.Lys179Ter, XP_011521464.1:p.Lys145Ter, NP_060172.1:p.Lys145Ter, XP_016878855.1:p.Lys145Ter, NP_997397.1:p.Lys206Ter, XP_016878847.1:p.Lys145Ter, XP_011521460.1:p.Lys145Ter, XP_016878848.1:p.Lys145Ter, XP_016878850.1:p.Lys179Ter, XP_016878851.1:p.Lys179Ter, XP_016878849.1:p.Lys145Ter, XP_016878853.1:p.Lys179Ter, XP_016878856.1:p.Lys145Ter, XP_016878858.1:p.Lys145Ter, NP_001229749.1:p.Lys145Ter, XP_016878852.1:p.Lys206Ter, XP_016878854.1:p.Lys206Ter, NP_001229747.1:p.Lys145Ter, NP_001229745.1:p.Lys135Ter, NP_001229746.1:p.Lys85Ter, NP_001229751.1:p.Lys145Ter, NP_001229750.1:p.Lys145Ter, XP_047290228.1:p.Lys206Ter, XP_047290229.1:p.Lys145Ter, NP_001229748.1:p.Lys145Ter

                                  17.

                                  rs1461520374 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:89964251 (GRCh38)
                                    16:90030659 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:89964250:G:A
                                    Gene:
                                    DEF8 (Varview)
                                    Functional Consequence:
                                    missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.89964251G>A, NC_000016.9:g.90030659G>A, XM_005256318.4:c.1033G>A, XM_005256318.3:c.1033G>A, XM_005256318.2:c.1033G>A, XM_005256318.1:c.1342G>A, NM_207514.3:c.1267G>A, NM_207514.2:c.1267G>A, XM_017023358.3:c.1084G>A, XM_017023358.2:c.1084G>A, XM_017023358.1:c.1084G>A, XM_011523158.3:c.1078G>A, XM_011523158.2:c.1078G>A, XM_011523158.1:c.1078G>A, XM_017023359.3:c.1078G>A, XM_017023359.2:c.1078G>A, XM_017023359.1:c.1078G>A, XM_017023361.3:c.1186G>A, XM_017023361.2:c.1186G>A, XM_017023361.1:c.1186G>A, XM_017023362.3:c.1180G>A, XM_017023362.2:c.1180G>A, XM_017023362.1:c.1180G>A, XM_017023360.3:c.1033G>A, XM_017023360.2:c.1033G>A, XM_017023360.1:c.1033G>A, XM_017023364.3:c.1135G>A, XM_017023364.2:c.1135G>A, XM_017023364.1:c.1135G>A, XM_017023367.3:c.1084G>A, XM_017023367.2:c.1084G>A, XM_017023367.1:c.1084G>A, XM_017023369.3:c.1033G>A, XM_017023369.2:c.1033G>A, XM_017023369.1:c.1033G>A, NM_001242820.2:c.1084G>A, NM_001242820.1:c.1084G>A, XM_017023363.2:c.1267G>A, XM_017023363.1:c.1267G>A, XM_017023365.2:c.1216G>A, XM_017023365.1:c.1216G>A, NM_001242818.2:c.1084G>A, NM_001242818.1:c.1084G>A, NM_001242816.2:c.1054G>A, NM_001242816.1:c.1054G>A, NM_001242817.2:c.904G>A, NM_001242817.1:c.904G>A, XM_047434272.1:c.1216G>A, XM_047434273.1:c.1078G>A, NM_001242819.1:c.1033G>A, XP_005256375.2:p.Gly345Ser, NP_997397.1:p.Gly423Ser, XP_016878847.1:p.Gly362Ser, XP_011521460.1:p.Gly360Ser, XP_016878848.1:p.Gly360Ser, XP_016878850.1:p.Gly396Ser, XP_016878851.1:p.Gly394Ser, XP_016878849.1:p.Gly345Ser, XP_016878853.1:p.Gly379Ser, XP_016878856.1:p.Gly362Ser, XP_016878858.1:p.Gly345Ser, NP_001229749.1:p.Gly362Ser, XP_016878852.1:p.Gly423Ser, XP_016878854.1:p.Gly406Ser, NP_001229747.1:p.Gly362Ser, NP_001229745.1:p.Gly352Ser, NP_001229746.1:p.Gly302Ser, XP_047290228.1:p.Gly406Ser, XP_047290229.1:p.Gly360Ser, NP_001229748.1:p.Gly345Ser

                                    18.

                                    rs1460900642 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:89957563 (GRCh38)
                                      16:90023971 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:89957562:G:A
                                      Gene:
                                      DEF8 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000014/3 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.89957563G>A, NC_000016.9:g.90023971G>A, XM_005256318.4:c.275G>A, XM_005256318.3:c.275G>A, XM_005256318.2:c.275G>A, XM_005256318.1:c.584G>A, XM_011523160.4:c.458G>A, XM_011523160.3:c.458G>A, XM_011523160.2:c.458G>A, XM_011523160.1:c.458G>A, XM_011523161.4:c.458G>A, XM_011523161.3:c.458G>A, XM_011523161.2:c.458G>A, XM_011523161.1:c.458G>A, XM_011523156.4:c.275G>A, XM_011523156.3:c.275G>A, XM_011523156.2:c.275G>A, XM_011523156.1:c.275G>A, XM_011523157.4:c.275G>A, XM_011523157.3:c.275G>A, XM_011523157.2:c.275G>A, XM_011523157.1:c.275G>A, XM_011523159.4:c.377G>A, XM_011523159.3:c.377G>A, XM_011523159.2:c.377G>A, XM_011523159.1:c.377G>A, XM_011523162.4:c.275G>A, XM_011523162.3:c.275G>A, XM_011523162.2:c.275G>A, XM_011523162.1:c.275G>A, NM_017702.4:c.275G>A, NM_017702.3:c.275G>A, XM_017023366.3:c.275G>A, XM_017023366.2:c.275G>A, XM_017023366.1:c.275G>A, NM_207514.3:c.458G>A, NM_207514.2:c.458G>A, XM_017023358.3:c.275G>A, XM_017023358.2:c.275G>A, XM_017023358.1:c.275G>A, XM_011523158.3:c.275G>A, XM_011523158.2:c.275G>A, XM_011523158.1:c.275G>A, XM_017023359.3:c.275G>A, XM_017023359.2:c.275G>A, XM_017023359.1:c.275G>A, XM_017023361.3:c.377G>A, XM_017023361.2:c.377G>A, XM_017023361.1:c.377G>A, XM_017023362.3:c.377G>A, XM_017023362.2:c.377G>A, XM_017023362.1:c.377G>A, XM_017023360.3:c.275G>A, XM_017023360.2:c.275G>A, XM_017023360.1:c.275G>A, XM_017023364.3:c.377G>A, XM_017023364.2:c.377G>A, XM_017023364.1:c.377G>A, XM_017023367.3:c.275G>A, XM_017023367.2:c.275G>A, XM_017023367.1:c.275G>A, XM_017023369.3:c.275G>A, XM_017023369.2:c.275G>A, XM_017023369.1:c.275G>A, NM_001242820.2:c.275G>A, NM_001242820.1:c.275G>A, XM_017023363.2:c.458G>A, XM_017023363.1:c.458G>A, XM_017023365.2:c.458G>A, XM_017023365.1:c.458G>A, NM_001242818.2:c.275G>A, NM_001242818.1:c.275G>A, NM_001242816.2:c.245G>A, NM_001242816.1:c.245G>A, NM_001242817.2:c.95G>A, NM_001242817.1:c.95G>A, NM_001242822.2:c.275G>A, NM_001242822.1:c.275G>A, NM_001242821.2:c.275G>A, NM_001242821.1:c.275G>A, XM_047434272.1:c.458G>A, XM_047434273.1:c.275G>A, NM_001242819.1:c.275G>A, XP_005256375.2:p.Cys92Tyr, XP_011521462.1:p.Cys153Tyr, XP_011521463.1:p.Cys153Tyr, XP_011521458.1:p.Cys92Tyr, XP_011521459.1:p.Cys92Tyr, XP_011521461.1:p.Cys126Tyr, XP_011521464.1:p.Cys92Tyr, NP_060172.1:p.Cys92Tyr, XP_016878855.1:p.Cys92Tyr, NP_997397.1:p.Cys153Tyr, XP_016878847.1:p.Cys92Tyr, XP_011521460.1:p.Cys92Tyr, XP_016878848.1:p.Cys92Tyr, XP_016878850.1:p.Cys126Tyr, XP_016878851.1:p.Cys126Tyr, XP_016878849.1:p.Cys92Tyr, XP_016878853.1:p.Cys126Tyr, XP_016878856.1:p.Cys92Tyr, XP_016878858.1:p.Cys92Tyr, NP_001229749.1:p.Cys92Tyr, XP_016878852.1:p.Cys153Tyr, XP_016878854.1:p.Cys153Tyr, NP_001229747.1:p.Cys92Tyr, NP_001229745.1:p.Cys82Tyr, NP_001229746.1:p.Cys32Tyr, NP_001229751.1:p.Cys92Tyr, NP_001229750.1:p.Cys92Tyr, XP_047290228.1:p.Cys153Tyr, XP_047290229.1:p.Cys92Tyr, NP_001229748.1:p.Cys92Tyr

                                      19.

                                      rs1459497143 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G,T [Show Flanks]
                                        Chromosome:
                                        16:89959116 (GRCh38)
                                        16:90025524 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:89959115:A:G,NC_000016.10:89959115:A:T
                                        Gene:
                                        DEF8 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.89959116A>G, NC_000016.10:g.89959116A>T, NC_000016.9:g.90025524A>G, NC_000016.9:g.90025524A>T, XM_005256318.4:c.475A>G, XM_005256318.4:c.475A>T, XM_005256318.3:c.475A>G, XM_005256318.3:c.475A>T, XM_005256318.2:c.475A>G, XM_005256318.2:c.475A>T, XM_005256318.1:c.784A>G, XM_005256318.1:c.784A>T, XM_011523160.4:c.658A>G, XM_011523160.4:c.658A>T, XM_011523160.3:c.658A>G, XM_011523160.3:c.658A>T, XM_011523160.2:c.658A>G, XM_011523160.2:c.658A>T, XM_011523160.1:c.658A>G, XM_011523160.1:c.658A>T, XM_011523161.4:c.658A>G, XM_011523161.4:c.658A>T, XM_011523161.3:c.658A>G, XM_011523161.3:c.658A>T, XM_011523161.2:c.658A>G, XM_011523161.2:c.658A>T, XM_011523161.1:c.658A>G, XM_011523161.1:c.658A>T, XM_011523156.4:c.475A>G, XM_011523156.4:c.475A>T, XM_011523156.3:c.475A>G, XM_011523156.3:c.475A>T, XM_011523156.2:c.475A>G, XM_011523156.2:c.475A>T, XM_011523156.1:c.475A>G, XM_011523156.1:c.475A>T, XM_011523157.4:c.475A>G, XM_011523157.4:c.475A>T, XM_011523157.3:c.475A>G, XM_011523157.3:c.475A>T, XM_011523157.2:c.475A>G, XM_011523157.2:c.475A>T, XM_011523157.1:c.475A>G, XM_011523157.1:c.475A>T, XM_011523159.4:c.577A>G, XM_011523159.4:c.577A>T, XM_011523159.3:c.577A>G, XM_011523159.3:c.577A>T, XM_011523159.2:c.577A>G, XM_011523159.2:c.577A>T, XM_011523159.1:c.577A>G, XM_011523159.1:c.577A>T, XM_011523162.4:c.475A>G, XM_011523162.4:c.475A>T, XM_011523162.3:c.475A>G, XM_011523162.3:c.475A>T, XM_011523162.2:c.475A>G, XM_011523162.2:c.475A>T, XM_011523162.1:c.475A>G, XM_011523162.1:c.475A>T, NM_017702.4:c.475A>G, NM_017702.4:c.475A>T, NM_017702.3:c.475A>G, NM_017702.3:c.475A>T, XM_017023366.3:c.475A>G, XM_017023366.3:c.475A>T, XM_017023366.2:c.475A>G, XM_017023366.2:c.475A>T, XM_017023366.1:c.475A>G, XM_017023366.1:c.475A>T, NM_207514.3:c.658A>G, NM_207514.3:c.658A>T, NM_207514.2:c.658A>G, NM_207514.2:c.658A>T, XM_017023358.3:c.475A>G, XM_017023358.3:c.475A>T, XM_017023358.2:c.475A>G, XM_017023358.2:c.475A>T, XM_017023358.1:c.475A>G, XM_017023358.1:c.475A>T, XM_011523158.3:c.475A>G, XM_011523158.3:c.475A>T, XM_011523158.2:c.475A>G, XM_011523158.2:c.475A>T, XM_011523158.1:c.475A>G, XM_011523158.1:c.475A>T, XM_017023359.3:c.475A>G, XM_017023359.3:c.475A>T, XM_017023359.2:c.475A>G, XM_017023359.2:c.475A>T, XM_017023359.1:c.475A>G, XM_017023359.1:c.475A>T, XM_017023361.3:c.577A>G, XM_017023361.3:c.577A>T, XM_017023361.2:c.577A>G, XM_017023361.2:c.577A>T, XM_017023361.1:c.577A>G, XM_017023361.1:c.577A>T, XM_017023362.3:c.577A>G, XM_017023362.3:c.577A>T, XM_017023362.2:c.577A>G, XM_017023362.2:c.577A>T, XM_017023362.1:c.577A>G, XM_017023362.1:c.577A>T, XM_017023360.3:c.475A>G, XM_017023360.3:c.475A>T, XM_017023360.2:c.475A>G, XM_017023360.2:c.475A>T, XM_017023360.1:c.475A>G, XM_017023360.1:c.475A>T, XM_017023364.3:c.577A>G, XM_017023364.3:c.577A>T, XM_017023364.2:c.577A>G, XM_017023364.2:c.577A>T, XM_017023364.1:c.577A>G, XM_017023364.1:c.577A>T, XM_017023367.3:c.475A>G, XM_017023367.3:c.475A>T, XM_017023367.2:c.475A>G, XM_017023367.2:c.475A>T, XM_017023367.1:c.475A>G, XM_017023367.1:c.475A>T, XM_017023369.3:c.475A>G, XM_017023369.3:c.475A>T, XM_017023369.2:c.475A>G, XM_017023369.2:c.475A>T, XM_017023369.1:c.475A>G, XM_017023369.1:c.475A>T, NM_001242820.2:c.475A>G, NM_001242820.2:c.475A>T, NM_001242820.1:c.475A>G, NM_001242820.1:c.475A>T, XM_017023363.2:c.658A>G, XM_017023363.2:c.658A>T, XM_017023363.1:c.658A>G, XM_017023363.1:c.658A>T, XM_017023365.2:c.658A>G, XM_017023365.2:c.658A>T, XM_017023365.1:c.658A>G, XM_017023365.1:c.658A>T, NM_001242818.2:c.475A>G, NM_001242818.2:c.475A>T, NM_001242818.1:c.475A>G, NM_001242818.1:c.475A>T, NM_001242816.2:c.445A>G, NM_001242816.2:c.445A>T, NM_001242816.1:c.445A>G, NM_001242816.1:c.445A>T, NM_001242817.2:c.295A>G, NM_001242817.2:c.295A>T, NM_001242817.1:c.295A>G, NM_001242817.1:c.295A>T, NM_001242822.2:c.475A>G, NM_001242822.2:c.475A>T, NM_001242822.1:c.475A>G, NM_001242822.1:c.475A>T, NM_001242821.2:c.475A>G, NM_001242821.2:c.475A>T, NM_001242821.1:c.475A>G, NM_001242821.1:c.475A>T, XM_047434272.1:c.658A>G, XM_047434272.1:c.658A>T, XM_047434273.1:c.475A>G, XM_047434273.1:c.475A>T, NM_001242819.1:c.475A>G, NM_001242819.1:c.475A>T, XP_005256375.2:p.Ile159Val, XP_005256375.2:p.Ile159Phe, XP_011521462.1:p.Ile220Val, XP_011521462.1:p.Ile220Phe, XP_011521463.1:p.Ile220Val, XP_011521463.1:p.Ile220Phe, XP_011521458.1:p.Ile159Val, XP_011521458.1:p.Ile159Phe, XP_011521459.1:p.Ile159Val, XP_011521459.1:p.Ile159Phe, XP_011521461.1:p.Ile193Val, XP_011521461.1:p.Ile193Phe, XP_011521464.1:p.Ile159Val, XP_011521464.1:p.Ile159Phe, NP_060172.1:p.Ile159Val, NP_060172.1:p.Ile159Phe, XP_016878855.1:p.Ile159Val, XP_016878855.1:p.Ile159Phe, NP_997397.1:p.Ile220Val, NP_997397.1:p.Ile220Phe, XP_016878847.1:p.Ile159Val, XP_016878847.1:p.Ile159Phe, XP_011521460.1:p.Ile159Val, XP_011521460.1:p.Ile159Phe, XP_016878848.1:p.Ile159Val, XP_016878848.1:p.Ile159Phe, XP_016878850.1:p.Ile193Val, XP_016878850.1:p.Ile193Phe, XP_016878851.1:p.Ile193Val, XP_016878851.1:p.Ile193Phe, XP_016878849.1:p.Ile159Val, XP_016878849.1:p.Ile159Phe, XP_016878853.1:p.Ile193Val, XP_016878853.1:p.Ile193Phe, XP_016878856.1:p.Ile159Val, XP_016878856.1:p.Ile159Phe, XP_016878858.1:p.Ile159Val, XP_016878858.1:p.Ile159Phe, NP_001229749.1:p.Ile159Val, NP_001229749.1:p.Ile159Phe, XP_016878852.1:p.Ile220Val, XP_016878852.1:p.Ile220Phe, XP_016878854.1:p.Ile220Val, XP_016878854.1:p.Ile220Phe, NP_001229747.1:p.Ile159Val, NP_001229747.1:p.Ile159Phe, NP_001229745.1:p.Ile149Val, NP_001229745.1:p.Ile149Phe, NP_001229746.1:p.Ile99Val, NP_001229746.1:p.Ile99Phe, NP_001229751.1:p.Ile159Val, NP_001229751.1:p.Ile159Phe, NP_001229750.1:p.Ile159Val, NP_001229750.1:p.Ile159Phe, XP_047290228.1:p.Ile220Val, XP_047290228.1:p.Ile220Phe, XP_047290229.1:p.Ile159Val, XP_047290229.1:p.Ile159Phe, NP_001229748.1:p.Ile159Val, NP_001229748.1:p.Ile159Phe

                                        20.

                                        rs1458543206 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:89957579 (GRCh38)
                                          16:90023987 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:89957578:G:A
                                          Gene:
                                          DEF8 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000016.10:g.89957579G>A, NC_000016.9:g.90023987G>A, XM_005256318.4:c.291G>A, XM_005256318.3:c.291G>A, XM_005256318.2:c.291G>A, XM_005256318.1:c.600G>A, XM_011523160.4:c.474G>A, XM_011523160.3:c.474G>A, XM_011523160.2:c.474G>A, XM_011523160.1:c.474G>A, XM_011523161.4:c.474G>A, XM_011523161.3:c.474G>A, XM_011523161.2:c.474G>A, XM_011523161.1:c.474G>A, XM_011523156.4:c.291G>A, XM_011523156.3:c.291G>A, XM_011523156.2:c.291G>A, XM_011523156.1:c.291G>A, XM_011523157.4:c.291G>A, XM_011523157.3:c.291G>A, XM_011523157.2:c.291G>A, XM_011523157.1:c.291G>A, XM_011523159.4:c.393G>A, XM_011523159.3:c.393G>A, XM_011523159.2:c.393G>A, XM_011523159.1:c.393G>A, XM_011523162.4:c.291G>A, XM_011523162.3:c.291G>A, XM_011523162.2:c.291G>A, XM_011523162.1:c.291G>A, NM_017702.4:c.291G>A, NM_017702.3:c.291G>A, XM_017023366.3:c.291G>A, XM_017023366.2:c.291G>A, XM_017023366.1:c.291G>A, NM_207514.3:c.474G>A, NM_207514.2:c.474G>A, XM_017023358.3:c.291G>A, XM_017023358.2:c.291G>A, XM_017023358.1:c.291G>A, XM_011523158.3:c.291G>A, XM_011523158.2:c.291G>A, XM_011523158.1:c.291G>A, XM_017023359.3:c.291G>A, XM_017023359.2:c.291G>A, XM_017023359.1:c.291G>A, XM_017023361.3:c.393G>A, XM_017023361.2:c.393G>A, XM_017023361.1:c.393G>A, XM_017023362.3:c.393G>A, XM_017023362.2:c.393G>A, XM_017023362.1:c.393G>A, XM_017023360.3:c.291G>A, XM_017023360.2:c.291G>A, XM_017023360.1:c.291G>A, XM_017023364.3:c.393G>A, XM_017023364.2:c.393G>A, XM_017023364.1:c.393G>A, XM_017023367.3:c.291G>A, XM_017023367.2:c.291G>A, XM_017023367.1:c.291G>A, XM_017023369.3:c.291G>A, XM_017023369.2:c.291G>A, XM_017023369.1:c.291G>A, NM_001242820.2:c.291G>A, NM_001242820.1:c.291G>A, XM_017023363.2:c.474G>A, XM_017023363.1:c.474G>A, XM_017023365.2:c.474G>A, XM_017023365.1:c.474G>A, NM_001242818.2:c.291G>A, NM_001242818.1:c.291G>A, NM_001242816.2:c.261G>A, NM_001242816.1:c.261G>A, NM_001242817.2:c.111G>A, NM_001242817.1:c.111G>A, NM_001242822.2:c.291G>A, NM_001242822.1:c.291G>A, NM_001242821.2:c.291G>A, NM_001242821.1:c.291G>A, XM_047434272.1:c.474G>A, XM_047434273.1:c.291G>A, NM_001242819.1:c.291G>A

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