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Items: 1 to 20 of 447

1.

rs1490785744 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    16:89963716 (GRCh38)
    16:90030124 (GRCh37)
    Canonical SPDI:
    NC_000016.10:89963715:T:C
    Gene:
    DEF8 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:

    2.

    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

      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.

          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

            6.

            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

              7.

              rs1474758137 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                16:89963701 (GRCh38)
                16:90030109 (GRCh37)
                Canonical SPDI:
                NC_000016.10:89963700:G:A
                Gene:
                DEF8 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (TOPMED)
                HGVS:

                8.

                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

                  9.

                  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

                    10.

                    rs1469305855 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      16:89963451 (GRCh38)
                      16:90029859 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:89963450:T:G
                      Gene:
                      DEF8 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000016.10:g.89963451T>G, NC_000016.9:g.90029859T>G, XM_011523160.4:c.1193T>G, XM_011523160.3:c.1193T>G, XM_011523160.2:c.1193T>G, XM_011523160.1:c.1193T>G, XM_011523161.4:c.1193T>G, XM_011523161.3:c.1193T>G, XM_011523161.2:c.1193T>G, XM_011523161.1:c.1193T>G, XM_011523156.4:c.1010T>G, XM_011523156.3:c.1010T>G, XM_011523156.2:c.1010T>G, XM_011523156.1:c.1010T>G, XM_011523157.4:c.1010T>G, XM_011523157.3:c.1010T>G, XM_011523157.2:c.1010T>G, XM_011523157.1:c.1010T>G, XM_011523159.4:c.1112T>G, XM_011523159.3:c.1112T>G, XM_011523159.2:c.1112T>G, XM_011523159.1:c.1112T>G, XM_011523162.4:c.1010T>G, XM_011523162.3:c.1010T>G, XM_011523162.2:c.1010T>G, XM_011523162.1:c.1010T>G, XM_017023366.3:c.1010T>G, XM_017023366.2:c.1010T>G, XM_017023366.1:c.1010T>G, XP_011521462.1:p.Leu398Arg, XP_011521463.1:p.Leu398Arg, XP_011521458.1:p.Leu337Arg, XP_011521459.1:p.Leu337Arg, XP_011521461.1:p.Leu371Arg, XP_011521464.1:p.Leu337Arg, XP_016878855.1:p.Leu337Arg

                      11.

                      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

                        12.

                        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

                          13.

                          rs1465041862 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:89963723 (GRCh38)
                            16:90030131 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:89963722:G:A
                            Gene:
                            DEF8 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000023/6 (TOPMED)
                            A=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000016.10:g.89963723G>A, NC_000016.9:g.90030131G>A, XM_011523160.4:c.1465G>A, XM_011523160.3:c.1465G>A, XM_011523160.2:c.1465G>A, XM_011523160.1:c.1465G>A, XM_011523161.4:c.1465G>A, XM_011523161.3:c.1465G>A, XM_011523161.2:c.1465G>A, XM_011523161.1:c.1465G>A, XM_011523156.4:c.1282G>A, XM_011523156.3:c.1282G>A, XM_011523156.2:c.1282G>A, XM_011523156.1:c.1282G>A, XM_011523157.4:c.1282G>A, XM_011523157.3:c.1282G>A, XM_011523157.2:c.1282G>A, XM_011523157.1:c.1282G>A, XM_011523159.4:c.1384G>A, XM_011523159.3:c.1384G>A, XM_011523159.2:c.1384G>A, XM_011523159.1:c.1384G>A, XM_011523162.4:c.1282G>A, XM_011523162.3:c.1282G>A, XM_011523162.2:c.1282G>A, XM_011523162.1:c.1282G>A, XM_017023366.3:c.1282G>A, XM_017023366.2:c.1282G>A, XM_017023366.1:c.1282G>A, XP_011521462.1:p.Gly489Ser, XP_011521463.1:p.Gly489Ser, XP_011521458.1:p.Gly428Ser, XP_011521459.1:p.Gly428Ser, XP_011521461.1:p.Gly462Ser, XP_011521464.1:p.Gly428Ser, XP_016878855.1:p.Gly428Ser

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1457882679 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:89961008 (GRCh38)
                                    16:90027416 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:89961007:G:A
                                    Gene:
                                    DEF8 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.89961008G>A, NC_000016.9:g.90027416G>A, XM_005256318.4:c.592G>A, XM_005256318.3:c.592G>A, XM_005256318.2:c.592G>A, XM_005256318.1:c.901G>A, XM_011523160.4:c.775G>A, XM_011523160.3:c.775G>A, XM_011523160.2:c.775G>A, XM_011523160.1:c.775G>A, XM_011523161.4:c.775G>A, XM_011523161.3:c.775G>A, XM_011523161.2:c.775G>A, XM_011523161.1:c.775G>A, XM_011523156.4:c.592G>A, XM_011523156.3:c.592G>A, XM_011523156.2:c.592G>A, XM_011523156.1:c.592G>A, XM_011523157.4:c.592G>A, XM_011523157.3:c.592G>A, XM_011523157.2:c.592G>A, XM_011523157.1:c.592G>A, XM_011523159.4:c.694G>A, XM_011523159.3:c.694G>A, XM_011523159.2:c.694G>A, XM_011523159.1:c.694G>A, XM_011523162.4:c.592G>A, XM_011523162.3:c.592G>A, XM_011523162.2:c.592G>A, XM_011523162.1:c.592G>A, XM_017023366.3:c.592G>A, XM_017023366.2:c.592G>A, XM_017023366.1:c.592G>A, NM_207514.3:c.775G>A, NM_207514.2:c.775G>A, XM_017023358.3:c.592G>A, XM_017023358.2:c.592G>A, XM_017023358.1:c.592G>A, XM_011523158.3:c.592G>A, XM_011523158.2:c.592G>A, XM_011523158.1:c.592G>A, XM_017023359.3:c.592G>A, XM_017023359.2:c.592G>A, XM_017023359.1:c.592G>A, XM_017023361.3:c.694G>A, XM_017023361.2:c.694G>A, XM_017023361.1:c.694G>A, XM_017023362.3:c.694G>A, XM_017023362.2:c.694G>A, XM_017023362.1:c.694G>A, XM_017023360.3:c.592G>A, XM_017023360.2:c.592G>A, XM_017023360.1:c.592G>A, XM_017023364.3:c.694G>A, XM_017023364.2:c.694G>A, XM_017023364.1:c.694G>A, XM_017023367.3:c.592G>A, XM_017023367.2:c.592G>A, XM_017023367.1:c.592G>A, XM_017023369.3:c.592G>A, XM_017023369.2:c.592G>A, XM_017023369.1:c.592G>A, NM_001242820.2:c.592G>A, NM_001242820.1:c.592G>A, XM_017023363.2:c.775G>A, XM_017023363.1:c.775G>A, XM_017023365.2:c.775G>A, XM_017023365.1:c.775G>A, NM_001242818.2:c.592G>A, NM_001242818.1:c.592G>A, NM_001242816.2:c.562G>A, NM_001242816.1:c.562G>A, NM_001242817.2:c.412G>A, NM_001242817.1:c.412G>A, XM_047434272.1:c.775G>A, XM_047434273.1:c.592G>A, NM_001242819.1:c.592G>A, XP_005256375.2:p.Ala198Thr, XP_011521462.1:p.Ala259Thr, XP_011521463.1:p.Ala259Thr, XP_011521458.1:p.Ala198Thr, XP_011521459.1:p.Ala198Thr, XP_011521461.1:p.Ala232Thr, XP_011521464.1:p.Ala198Thr, XP_016878855.1:p.Ala198Thr, NP_997397.1:p.Ala259Thr, XP_016878847.1:p.Ala198Thr, XP_011521460.1:p.Ala198Thr, XP_016878848.1:p.Ala198Thr, XP_016878850.1:p.Ala232Thr, XP_016878851.1:p.Ala232Thr, XP_016878849.1:p.Ala198Thr, XP_016878853.1:p.Ala232Thr, XP_016878856.1:p.Ala198Thr, XP_016878858.1:p.Ala198Thr, NP_001229749.1:p.Ala198Thr, XP_016878852.1:p.Ala259Thr, XP_016878854.1:p.Ala259Thr, NP_001229747.1:p.Ala198Thr, NP_001229745.1:p.Ala188Thr, NP_001229746.1:p.Ala138Thr, XP_047290228.1:p.Ala259Thr, XP_047290229.1:p.Ala198Thr, NP_001229748.1:p.Ala198Thr

                                    18.

                                    rs1452783078 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      16:89963753 (GRCh38)
                                      16:90030161 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:89963752:A:G
                                      Gene:
                                      DEF8 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000016.10:g.89963753A>G, NC_000016.9:g.90030161A>G, XM_011523160.4:c.1495A>G, XM_011523160.3:c.1495A>G, XM_011523160.2:c.1495A>G, XM_011523160.1:c.1495A>G, XM_011523161.4:c.1495A>G, XM_011523161.3:c.1495A>G, XM_011523161.2:c.1495A>G, XM_011523161.1:c.1495A>G, XM_011523156.4:c.1312A>G, XM_011523156.3:c.1312A>G, XM_011523156.2:c.1312A>G, XM_011523156.1:c.1312A>G, XM_011523157.4:c.1312A>G, XM_011523157.3:c.1312A>G, XM_011523157.2:c.1312A>G, XM_011523157.1:c.1312A>G, XM_011523159.4:c.1414A>G, XM_011523159.3:c.1414A>G, XM_011523159.2:c.1414A>G, XM_011523159.1:c.1414A>G, XM_011523162.4:c.1312A>G, XM_011523162.3:c.1312A>G, XM_011523162.2:c.1312A>G, XM_011523162.1:c.1312A>G, XM_017023366.3:c.1312A>G, XM_017023366.2:c.1312A>G, XM_017023366.1:c.1312A>G, XP_011521462.1:p.Arg499Gly, XP_011521463.1:p.Arg499Gly, XP_011521458.1:p.Arg438Gly, XP_011521459.1:p.Arg438Gly, XP_011521461.1:p.Arg472Gly, XP_011521464.1:p.Arg438Gly, XP_016878855.1:p.Arg438Gly

                                      19.

                                      rs1448619835 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:89961829 (GRCh38)
                                        16:90028237 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:89961828:C:T
                                        Gene:
                                        DEF8 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000016.10:g.89961829C>T, NC_000016.9:g.90028237C>T, XM_005256318.4:c.772C>T, XM_005256318.3:c.772C>T, XM_005256318.2:c.772C>T, XM_005256318.1:c.1081C>T, XM_011523160.4:c.955C>T, XM_011523160.3:c.955C>T, XM_011523160.2:c.955C>T, XM_011523160.1:c.955C>T, XM_011523161.4:c.955C>T, XM_011523161.3:c.955C>T, XM_011523161.2:c.955C>T, XM_011523161.1:c.955C>T, XM_011523156.4:c.772C>T, XM_011523156.3:c.772C>T, XM_011523156.2:c.772C>T, XM_011523156.1:c.772C>T, XM_011523157.4:c.772C>T, XM_011523157.3:c.772C>T, XM_011523157.2:c.772C>T, XM_011523157.1:c.772C>T, XM_011523159.4:c.874C>T, XM_011523159.3:c.874C>T, XM_011523159.2:c.874C>T, XM_011523159.1:c.874C>T, XM_011523162.4:c.772C>T, XM_011523162.3:c.772C>T, XM_011523162.2:c.772C>T, XM_011523162.1:c.772C>T, XM_017023366.3:c.772C>T, XM_017023366.2:c.772C>T, XM_017023366.1:c.772C>T, NM_207514.3:c.955C>T, NM_207514.2:c.955C>T, XM_017023358.3:c.772C>T, XM_017023358.2:c.772C>T, XM_017023358.1:c.772C>T, XM_011523158.3:c.772C>T, XM_011523158.2:c.772C>T, XM_011523158.1:c.772C>T, XM_017023359.3:c.772C>T, XM_017023359.2:c.772C>T, XM_017023359.1:c.772C>T, XM_017023361.3:c.874C>T, XM_017023361.2:c.874C>T, XM_017023361.1:c.874C>T, XM_017023362.3:c.874C>T, XM_017023362.2:c.874C>T, XM_017023362.1:c.874C>T, XM_017023360.3:c.772C>T, XM_017023360.2:c.772C>T, XM_017023360.1:c.772C>T, XM_017023364.3:c.874C>T, XM_017023364.2:c.874C>T, XM_017023364.1:c.874C>T, XM_017023367.3:c.772C>T, XM_017023367.2:c.772C>T, XM_017023367.1:c.772C>T, XM_017023369.3:c.772C>T, XM_017023369.2:c.772C>T, XM_017023369.1:c.772C>T, NM_001242820.2:c.772C>T, NM_001242820.1:c.772C>T, XM_017023363.2:c.955C>T, XM_017023363.1:c.955C>T, XM_017023365.2:c.955C>T, XM_017023365.1:c.955C>T, NM_001242818.2:c.772C>T, NM_001242818.1:c.772C>T, NM_001242816.2:c.742C>T, NM_001242816.1:c.742C>T, NM_001242817.2:c.592C>T, NM_001242817.1:c.592C>T, XM_047434272.1:c.955C>T, XM_047434273.1:c.772C>T, NM_001242819.1:c.772C>T, XP_005256375.2:p.Arg258Cys, XP_011521462.1:p.Arg319Cys, XP_011521463.1:p.Arg319Cys, XP_011521458.1:p.Arg258Cys, XP_011521459.1:p.Arg258Cys, XP_011521461.1:p.Arg292Cys, XP_011521464.1:p.Arg258Cys, XP_016878855.1:p.Arg258Cys, NP_997397.1:p.Arg319Cys, XP_016878847.1:p.Arg258Cys, XP_011521460.1:p.Arg258Cys, XP_016878848.1:p.Arg258Cys, XP_016878850.1:p.Arg292Cys, XP_016878851.1:p.Arg292Cys, XP_016878849.1:p.Arg258Cys, XP_016878853.1:p.Arg292Cys, XP_016878856.1:p.Arg258Cys, XP_016878858.1:p.Arg258Cys, NP_001229749.1:p.Arg258Cys, XP_016878852.1:p.Arg319Cys, XP_016878854.1:p.Arg319Cys, NP_001229747.1:p.Arg258Cys, NP_001229745.1:p.Arg248Cys, NP_001229746.1:p.Arg198Cys, XP_047290228.1:p.Arg319Cys, XP_047290229.1:p.Arg258Cys, NP_001229748.1:p.Arg258Cys

                                        20.

                                        rs1447943626 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          16:89959041 (GRCh38)
                                          16:90025449 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:89959040:C:A,NC_000016.10:89959040:C:T
                                          Gene:
                                          DEF8 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,stop_gained,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.89959041C>A, NC_000016.10:g.89959041C>T, NC_000016.9:g.90025449C>A, NC_000016.9:g.90025449C>T, XM_005256318.4:c.400C>A, XM_005256318.4:c.400C>T, XM_005256318.3:c.400C>A, XM_005256318.3:c.400C>T, XM_005256318.2:c.400C>A, XM_005256318.2:c.400C>T, XM_005256318.1:c.709C>A, XM_005256318.1:c.709C>T, XM_011523160.4:c.583C>A, XM_011523160.4:c.583C>T, XM_011523160.3:c.583C>A, XM_011523160.3:c.583C>T, XM_011523160.2:c.583C>A, XM_011523160.2:c.583C>T, XM_011523160.1:c.583C>A, XM_011523160.1:c.583C>T, XM_011523161.4:c.583C>A, XM_011523161.4:c.583C>T, XM_011523161.3:c.583C>A, XM_011523161.3:c.583C>T, XM_011523161.2:c.583C>A, XM_011523161.2:c.583C>T, XM_011523161.1:c.583C>A, XM_011523161.1:c.583C>T, XM_011523156.4:c.400C>A, XM_011523156.4:c.400C>T, XM_011523156.3:c.400C>A, XM_011523156.3:c.400C>T, XM_011523156.2:c.400C>A, XM_011523156.2:c.400C>T, XM_011523156.1:c.400C>A, XM_011523156.1:c.400C>T, XM_011523157.4:c.400C>A, XM_011523157.4:c.400C>T, XM_011523157.3:c.400C>A, XM_011523157.3:c.400C>T, XM_011523157.2:c.400C>A, XM_011523157.2:c.400C>T, XM_011523157.1:c.400C>A, XM_011523157.1:c.400C>T, XM_011523159.4:c.502C>A, XM_011523159.4:c.502C>T, XM_011523159.3:c.502C>A, XM_011523159.3:c.502C>T, XM_011523159.2:c.502C>A, XM_011523159.2:c.502C>T, XM_011523159.1:c.502C>A, XM_011523159.1:c.502C>T, XM_011523162.4:c.400C>A, XM_011523162.4:c.400C>T, XM_011523162.3:c.400C>A, XM_011523162.3:c.400C>T, XM_011523162.2:c.400C>A, XM_011523162.2:c.400C>T, XM_011523162.1:c.400C>A, XM_011523162.1:c.400C>T, NM_017702.4:c.400C>A, NM_017702.4:c.400C>T, NM_017702.3:c.400C>A, NM_017702.3:c.400C>T, XM_017023366.3:c.400C>A, XM_017023366.3:c.400C>T, XM_017023366.2:c.400C>A, XM_017023366.2:c.400C>T, XM_017023366.1:c.400C>A, XM_017023366.1:c.400C>T, NM_207514.3:c.583C>A, NM_207514.3:c.583C>T, NM_207514.2:c.583C>A, NM_207514.2:c.583C>T, XM_017023358.3:c.400C>A, XM_017023358.3:c.400C>T, XM_017023358.2:c.400C>A, XM_017023358.2:c.400C>T, XM_017023358.1:c.400C>A, XM_017023358.1:c.400C>T, XM_011523158.3:c.400C>A, XM_011523158.3:c.400C>T, XM_011523158.2:c.400C>A, XM_011523158.2:c.400C>T, XM_011523158.1:c.400C>A, XM_011523158.1:c.400C>T, XM_017023359.3:c.400C>A, XM_017023359.3:c.400C>T, XM_017023359.2:c.400C>A, XM_017023359.2:c.400C>T, XM_017023359.1:c.400C>A, XM_017023359.1:c.400C>T, XM_017023361.3:c.502C>A, XM_017023361.3:c.502C>T, XM_017023361.2:c.502C>A, XM_017023361.2:c.502C>T, XM_017023361.1:c.502C>A, XM_017023361.1:c.502C>T, XM_017023362.3:c.502C>A, XM_017023362.3:c.502C>T, XM_017023362.2:c.502C>A, XM_017023362.2:c.502C>T, XM_017023362.1:c.502C>A, XM_017023362.1:c.502C>T, XM_017023360.3:c.400C>A, XM_017023360.3:c.400C>T, XM_017023360.2:c.400C>A, XM_017023360.2:c.400C>T, XM_017023360.1:c.400C>A, XM_017023360.1:c.400C>T, XM_017023364.3:c.502C>A, XM_017023364.3:c.502C>T, XM_017023364.2:c.502C>A, XM_017023364.2:c.502C>T, XM_017023364.1:c.502C>A, XM_017023364.1:c.502C>T, XM_017023367.3:c.400C>A, XM_017023367.3:c.400C>T, XM_017023367.2:c.400C>A, XM_017023367.2:c.400C>T, XM_017023367.1:c.400C>A, XM_017023367.1:c.400C>T, XM_017023369.3:c.400C>A, XM_017023369.3:c.400C>T, XM_017023369.2:c.400C>A, XM_017023369.2:c.400C>T, XM_017023369.1:c.400C>A, XM_017023369.1:c.400C>T, NM_001242820.2:c.400C>A, NM_001242820.2:c.400C>T, NM_001242820.1:c.400C>A, NM_001242820.1:c.400C>T, XM_017023363.2:c.583C>A, XM_017023363.2:c.583C>T, XM_017023363.1:c.583C>A, XM_017023363.1:c.583C>T, XM_017023365.2:c.583C>A, XM_017023365.2:c.583C>T, XM_017023365.1:c.583C>A, XM_017023365.1:c.583C>T, NM_001242818.2:c.400C>A, NM_001242818.2:c.400C>T, NM_001242818.1:c.400C>A, NM_001242818.1:c.400C>T, NM_001242816.2:c.370C>A, NM_001242816.2:c.370C>T, NM_001242816.1:c.370C>A, NM_001242816.1:c.370C>T, NM_001242817.2:c.220C>A, NM_001242817.2:c.220C>T, NM_001242817.1:c.220C>A, NM_001242817.1:c.220C>T, NM_001242822.2:c.400C>A, NM_001242822.2:c.400C>T, NM_001242822.1:c.400C>A, NM_001242822.1:c.400C>T, NM_001242821.2:c.400C>A, NM_001242821.2:c.400C>T, NM_001242821.1:c.400C>A, NM_001242821.1:c.400C>T, XM_047434272.1:c.583C>A, XM_047434272.1:c.583C>T, XM_047434273.1:c.400C>A, XM_047434273.1:c.400C>T, NM_001242819.1:c.400C>A, NM_001242819.1:c.400C>T, XP_005256375.2:p.Arg134Ter, XP_011521462.1:p.Arg195Ter, XP_011521463.1:p.Arg195Ter, XP_011521458.1:p.Arg134Ter, XP_011521459.1:p.Arg134Ter, XP_011521461.1:p.Arg168Ter, XP_011521464.1:p.Arg134Ter, NP_060172.1:p.Arg134Ter, XP_016878855.1:p.Arg134Ter, NP_997397.1:p.Arg195Ter, XP_016878847.1:p.Arg134Ter, XP_011521460.1:p.Arg134Ter, XP_016878848.1:p.Arg134Ter, XP_016878850.1:p.Arg168Ter, XP_016878851.1:p.Arg168Ter, XP_016878849.1:p.Arg134Ter, XP_016878853.1:p.Arg168Ter, XP_016878856.1:p.Arg134Ter, XP_016878858.1:p.Arg134Ter, NP_001229749.1:p.Arg134Ter, XP_016878852.1:p.Arg195Ter, XP_016878854.1:p.Arg195Ter, NP_001229747.1:p.Arg134Ter, NP_001229745.1:p.Arg124Ter, NP_001229746.1:p.Arg74Ter, NP_001229751.1:p.Arg134Ter, NP_001229750.1:p.Arg134Ter, XP_047290228.1:p.Arg195Ter, XP_047290229.1:p.Arg134Ter, NP_001229748.1:p.Arg134Ter

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