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Items: 1 to 20 of 351

1.

rs1486150406 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    5:69306825 (GRCh38)
    5:68602652 (GRCh37)
    Canonical SPDI:
    NC_000005.10:69306824:T:C
    Gene:
    CCDC125 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0.00005/1 (ALFA)
    HGVS:
    NC_000005.10:g.69306825T>C, NC_000005.9:g.68602652T>C, NW_003315917.2:g.89988T>C, XM_005248459.6:c.606A>G, XM_005248459.5:c.606A>G, XM_005248459.4:c.606A>G, XM_005248459.3:c.606A>G, XM_005248459.2:c.606A>G, XM_005248459.1:c.606A>G, XM_005248458.6:c.609A>G, XM_005248458.5:c.609A>G, XM_005248458.4:c.609A>G, XM_005248458.3:c.609A>G, XM_005248458.2:c.609A>G, XM_005248458.1:c.609A>G, NM_176816.5:c.609A>G, NM_176816.4:c.609A>G, NM_176816.3:c.609A>G, XM_006714570.5:c.378A>G, XM_006714570.4:c.378A>G, XM_006714570.3:c.378A>G, XM_006714570.2:c.378A>G, XM_006714570.1:c.378A>G, XM_005248461.5:c.339A>G, XM_005248461.4:c.339A>G, XM_005248461.3:c.339A>G, XM_005248461.2:c.339A>G, XM_005248461.1:c.339A>G, XM_005248463.5:c.234A>G, XM_005248463.4:c.234A>G, XM_005248463.3:c.234A>G, XM_005248463.2:c.234A>G, XM_005248463.1:c.234A>G, XM_011543255.4:c.609A>G, XM_011543255.3:c.609A>G, XM_011543255.2:c.609A>G, XM_011543255.1:c.609A>G, XM_011543256.4:c.609A>G, XM_011543256.3:c.609A>G, XM_011543256.2:c.609A>G, XM_011543256.1:c.609A>G, XM_017009206.3:c.606A>G, XM_017009206.2:c.606A>G, XM_017009206.1:c.606A>G, XM_017009211.3:c.-2A>G, XM_017009211.2:c.-2A>G, XM_017009211.1:c.-2A>G, XM_011543259.3:c.609A>G, XM_011543259.2:c.609A>G, XM_011543259.1:c.609A>G, XM_011543258.3:c.609A>G, XM_011543258.2:c.609A>G, XM_011543258.1:c.609A>G, XM_011543260.3:c.609A>G, XM_011543260.2:c.609A>G, XM_011543260.1:c.609A>G, NM_001297697.2:c.234A>G, NM_001297697.1:c.234A>G, NM_001297696.2:c.606A>G, NM_001297696.1:c.606A>G, XM_017009207.2:c.609A>G, XM_017009207.1:c.609A>G, XM_047416894.1:c.606A>G, XM_047416903.1:c.390A>G, XM_047416905.1:c.390A>G, XM_047416893.1:c.609A>G, XM_047416895.1:c.606A>G, XM_047416902.1:c.390A>G, XM_047416906.1:c.390A>G, XM_047416896.1:c.609A>G, XM_047416897.1:c.606A>G, XM_047416904.1:c.378A>G, XM_047416907.1:c.378A>G, XM_047416898.1:c.606A>G, XM_047416900.1:c.606A>G, XM_047416899.1:c.606A>G, XM_047416908.1:c.390A>G, XM_024454396.2:c.606A>G, XM_024454396.1:c.606A>G, XM_047416901.1:c.606A>G

    2.

    rs1483600468 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      5:69292233 (GRCh38)
      5:68588060 (GRCh37)
      Canonical SPDI:
      NC_000005.10:69292232:T:C
      Gene:
      CCDC125 (Varview)
      Functional Consequence:
      intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000071/1 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000005.10:g.69292233T>C, NC_000005.9:g.68588060T>C, NW_003315917.2:g.75393T>C, XM_005248459.6:c.1051A>G, XM_005248459.5:c.1051A>G, XM_005248459.4:c.1051A>G, XM_005248459.3:c.1051A>G, XM_005248459.2:c.1051A>G, XM_005248459.1:c.1051A>G, XM_005248458.6:c.1054A>G, XM_005248458.5:c.1054A>G, XM_005248458.4:c.1054A>G, XM_005248458.3:c.1054A>G, XM_005248458.2:c.1054A>G, XM_005248458.1:c.1054A>G, NM_176816.5:c.1054A>G, NM_176816.4:c.1054A>G, NM_176816.3:c.1054A>G, XM_006714570.5:c.823A>G, XM_006714570.4:c.823A>G, XM_006714570.3:c.823A>G, XM_006714570.2:c.823A>G, XM_006714570.1:c.823A>G, XM_005248461.5:c.784A>G, XM_005248461.4:c.784A>G, XM_005248461.3:c.784A>G, XM_005248461.2:c.784A>G, XM_005248461.1:c.784A>G, XM_005248463.5:c.679A>G, XM_005248463.4:c.679A>G, XM_005248463.3:c.679A>G, XM_005248463.2:c.679A>G, XM_005248463.1:c.679A>G, XM_011543255.4:c.1054A>G, XM_011543255.3:c.1054A>G, XM_011543255.2:c.1054A>G, XM_011543255.1:c.1054A>G, XM_011543256.4:c.1054A>G, XM_011543256.3:c.1054A>G, XM_011543256.2:c.1054A>G, XM_011543256.1:c.1054A>G, XM_017009206.3:c.1051A>G, XM_017009206.2:c.1051A>G, XM_017009206.1:c.1051A>G, XM_017009211.3:c.361A>G, XM_017009211.2:c.361A>G, XM_017009211.1:c.361A>G, XM_011543259.3:c.1054A>G, XM_011543259.2:c.1054A>G, XM_011543259.1:c.1054A>G, XM_011543258.3:c.1054A>G, XM_011543258.2:c.1054A>G, XM_011543258.1:c.1054A>G, XM_024454396.2:c.1051A>G, XM_024454396.1:c.1051A>G, NM_001297697.2:c.679A>G, NM_001297697.1:c.679A>G, XM_017009207.2:c.1039A>G, XM_017009207.1:c.1039A>G, XM_047416903.1:c.835A>G, XM_047416905.1:c.820A>G, XM_047416893.1:c.1039A>G, XM_047416895.1:c.1036A>G, XM_047416902.1:c.835A>G, XM_047416906.1:c.820A>G, XM_047416896.1:c.946A>G, XM_047416897.1:c.943A>G, XM_047416904.1:c.823A>G, XM_047416907.1:c.808A>G, XM_047416898.1:c.1051A>G, XM_047416900.1:c.1036A>G, XM_047416899.1:c.1051A>G, XM_047416901.1:c.1036A>G, XM_047416908.1:c.835A>G, XM_047416894.1:c.1036A>G, XP_005248516.1:p.Lys351Glu, XP_005248515.1:p.Lys352Glu, NP_789786.2:p.Lys352Glu, XP_006714633.1:p.Lys275Glu, XP_005248518.1:p.Lys262Glu, XP_005248520.1:p.Lys227Glu, XP_011541557.1:p.Lys352Glu, XP_011541558.1:p.Lys352Glu, XP_016864695.1:p.Lys351Glu, XP_016864700.1:p.Lys121Glu, XP_011541561.1:p.Lys352Glu, XP_011541560.1:p.Lys352Glu, XP_024310164.1:p.Lys351Glu, NP_001284626.1:p.Lys227Glu, XP_016864696.1:p.Lys347Glu, XP_047272859.1:p.Lys279Glu, XP_047272861.1:p.Lys274Glu, XP_047272849.1:p.Lys347Glu, XP_047272851.1:p.Lys346Glu, XP_047272858.1:p.Lys279Glu, XP_047272862.1:p.Lys274Glu, XP_047272852.1:p.Lys316Glu, XP_047272853.1:p.Lys315Glu, XP_047272860.1:p.Lys275Glu, XP_047272863.1:p.Lys270Glu, XP_047272854.1:p.Lys351Glu, XP_047272856.1:p.Lys346Glu, XP_047272855.1:p.Lys351Glu, XP_047272857.1:p.Lys346Glu, XP_047272864.1:p.Lys279Glu, XP_047272850.1:p.Lys346Glu

      3.

      rs1483572382 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        5:69282894 (GRCh38)
        5:68578721 (GRCh37)
        Canonical SPDI:
        NC_000005.10:69282893:G:A
        Gene:
        CCDC125 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
        HGVS:
        NC_000005.10:g.69282894G>A, NC_000005.9:g.68578721G>A, NW_003315917.2:g.66070G>A, XM_005248459.6:c.1368C>T, XM_005248459.5:c.1368C>T, XM_005248459.4:c.1368C>T, XM_005248459.3:c.1368C>T, XM_005248459.2:c.1368C>T, XM_005248459.1:c.1368C>T, XM_005248458.6:c.1371C>T, XM_005248458.5:c.1371C>T, XM_005248458.4:c.1371C>T, XM_005248458.3:c.1371C>T, XM_005248458.2:c.1371C>T, XM_005248458.1:c.1371C>T, NM_176816.5:c.1371C>T, NM_176816.4:c.1371C>T, NM_176816.3:c.1371C>T, XM_006714570.5:c.1140C>T, XM_006714570.4:c.1140C>T, XM_006714570.3:c.1140C>T, XM_006714570.2:c.1140C>T, XM_006714570.1:c.1140C>T, XM_005248461.5:c.1101C>T, XM_005248461.4:c.1101C>T, XM_005248461.3:c.1101C>T, XM_005248461.2:c.1101C>T, XM_005248461.1:c.1101C>T, XM_005248463.5:c.996C>T, XM_005248463.4:c.996C>T, XM_005248463.3:c.996C>T, XM_005248463.2:c.996C>T, XM_005248463.1:c.996C>T, XM_011543255.4:c.1371C>T, XM_011543255.3:c.1371C>T, XM_011543255.2:c.1371C>T, XM_011543255.1:c.1371C>T, XM_011543256.4:c.1371C>T, XM_011543256.3:c.1371C>T, XM_011543256.2:c.1371C>T, XM_011543256.1:c.1371C>T, XM_017009206.3:c.1368C>T, XM_017009206.2:c.1368C>T, XM_017009206.1:c.1368C>T, XM_017009211.3:c.678C>T, XM_017009211.2:c.678C>T, XM_017009211.1:c.678C>T, XM_011543259.3:c.1371C>T, XM_011543259.2:c.1371C>T, XM_011543259.1:c.1371C>T, XM_011543258.3:c.1371C>T, XM_011543258.2:c.1371C>T, XM_011543258.1:c.1371C>T, XM_024454396.2:c.1368C>T, XM_024454396.1:c.1368C>T, NM_001297697.2:c.996C>T, NM_001297697.1:c.996C>T, NM_001297696.2:c.*146C>T, NM_001297696.1:c.*146C>T, XM_017009207.2:c.1356C>T, XM_017009207.1:c.1356C>T, XM_047416903.1:c.1152C>T, XM_047416905.1:c.1137C>T, XM_047416893.1:c.1356C>T, XM_047416895.1:c.1353C>T, XM_047416902.1:c.1152C>T, XM_047416906.1:c.1137C>T, XM_047416896.1:c.1263C>T, XM_047416897.1:c.1260C>T, XM_047416904.1:c.1140C>T, XM_047416907.1:c.1125C>T, XM_047416898.1:c.1368C>T, XM_047416900.1:c.1353C>T, XM_047416899.1:c.1368C>T, XM_047416901.1:c.1353C>T, XM_047416908.1:c.1152C>T, XM_047416894.1:c.1353C>T

        4.

        rs1476959791 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          5:69282822 (GRCh38)
          5:68578649 (GRCh37)
          Canonical SPDI:
          NC_000005.10:69282821:C:T
          Gene:
          CCDC125 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000005.10:g.69282822C>T, NC_000005.9:g.68578649C>T, NW_003315917.2:g.65998C>T, XM_005248459.6:c.1440G>A, XM_005248459.5:c.1440G>A, XM_005248459.4:c.1440G>A, XM_005248459.3:c.1440G>A, XM_005248459.2:c.1440G>A, XM_005248459.1:c.1440G>A, XM_005248458.6:c.1443G>A, XM_005248458.5:c.1443G>A, XM_005248458.4:c.1443G>A, XM_005248458.3:c.1443G>A, XM_005248458.2:c.1443G>A, XM_005248458.1:c.1443G>A, NM_176816.5:c.1443G>A, NM_176816.4:c.1443G>A, NM_176816.3:c.1443G>A, XM_006714570.5:c.1212G>A, XM_006714570.4:c.1212G>A, XM_006714570.3:c.1212G>A, XM_006714570.2:c.1212G>A, XM_006714570.1:c.1212G>A, XM_005248461.5:c.1173G>A, XM_005248461.4:c.1173G>A, XM_005248461.3:c.1173G>A, XM_005248461.2:c.1173G>A, XM_005248461.1:c.1173G>A, XM_005248463.5:c.1068G>A, XM_005248463.4:c.1068G>A, XM_005248463.3:c.1068G>A, XM_005248463.2:c.1068G>A, XM_005248463.1:c.1068G>A, XM_011543255.4:c.1443G>A, XM_011543255.3:c.1443G>A, XM_011543255.2:c.1443G>A, XM_011543255.1:c.1443G>A, XM_011543256.4:c.1443G>A, XM_011543256.3:c.1443G>A, XM_011543256.2:c.1443G>A, XM_011543256.1:c.1443G>A, XM_017009211.3:c.750G>A, XM_017009211.2:c.750G>A, XM_017009211.1:c.750G>A, XM_024454396.2:c.1440G>A, XM_024454396.1:c.1440G>A, NM_001297697.2:c.1068G>A, NM_001297697.1:c.1068G>A, NM_001297696.2:c.*218G>A, NM_001297696.1:c.*218G>A, XM_017009206.3:c.1440G>A, XM_017009206.2:c.1440G>A, XM_017009206.1:c.1440G>A, XM_047416894.1:c.1425G>A, XM_047416903.1:c.1224G>A, XM_047416905.1:c.1209G>A, XM_047416893.1:c.1428G>A, XM_047416895.1:c.1425G>A, XM_047416902.1:c.1224G>A, XM_047416906.1:c.1209G>A, XM_047416896.1:c.1335G>A, XM_047416897.1:c.1332G>A, XM_047416904.1:c.1212G>A, XM_047416907.1:c.1197G>A

          5.

          rs1473343481 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A [Show Flanks]
            Chromosome:
            5:69282996 (GRCh38)
            5:68578823 (GRCh37)
            Canonical SPDI:
            NC_000005.10:69282995:T:A
            Gene:
            CCDC125 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0.000047/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000005.10:g.69282996T>A, NC_000005.9:g.68578823T>A, NW_003315917.2:g.66172T>A, XM_005248459.6:c.1266A>T, XM_005248459.5:c.1266A>T, XM_005248459.4:c.1266A>T, XM_005248459.3:c.1266A>T, XM_005248459.2:c.1266A>T, XM_005248459.1:c.1266A>T, XM_005248458.6:c.1269A>T, XM_005248458.5:c.1269A>T, XM_005248458.4:c.1269A>T, XM_005248458.3:c.1269A>T, XM_005248458.2:c.1269A>T, XM_005248458.1:c.1269A>T, NM_176816.5:c.1269A>T, NM_176816.4:c.1269A>T, NM_176816.3:c.1269A>T, XM_006714570.5:c.1038A>T, XM_006714570.4:c.1038A>T, XM_006714570.3:c.1038A>T, XM_006714570.2:c.1038A>T, XM_006714570.1:c.1038A>T, XM_005248461.5:c.999A>T, XM_005248461.4:c.999A>T, XM_005248461.3:c.999A>T, XM_005248461.2:c.999A>T, XM_005248461.1:c.999A>T, XM_005248463.5:c.894A>T, XM_005248463.4:c.894A>T, XM_005248463.3:c.894A>T, XM_005248463.2:c.894A>T, XM_005248463.1:c.894A>T, XM_011543255.4:c.1269A>T, XM_011543255.3:c.1269A>T, XM_011543255.2:c.1269A>T, XM_011543255.1:c.1269A>T, XM_011543256.4:c.1269A>T, XM_011543256.3:c.1269A>T, XM_011543256.2:c.1269A>T, XM_011543256.1:c.1269A>T, XM_017009211.3:c.576A>T, XM_017009211.2:c.576A>T, XM_017009211.1:c.576A>T, XM_011543259.3:c.1269A>T, XM_011543259.2:c.1269A>T, XM_011543259.1:c.1269A>T, XM_011543258.3:c.1269A>T, XM_011543258.2:c.1269A>T, XM_011543258.1:c.1269A>T, XM_024454396.2:c.1266A>T, XM_024454396.1:c.1266A>T, NM_001297697.2:c.894A>T, NM_001297697.1:c.894A>T, NM_001297696.2:c.*44A>T, NM_001297696.1:c.*44A>T, XM_017009207.2:c.1254A>T, XM_017009207.1:c.1254A>T, XM_017009206.3:c.1266A>T, XM_017009206.2:c.1266A>T, XM_017009206.1:c.1266A>T, XM_047416894.1:c.1251A>T, XM_047416903.1:c.1050A>T, XM_047416905.1:c.1035A>T, XM_047416893.1:c.1254A>T, XM_047416895.1:c.1251A>T, XM_047416902.1:c.1050A>T, XM_047416906.1:c.1035A>T, XM_047416896.1:c.1161A>T, XM_047416897.1:c.1158A>T, XM_047416904.1:c.1038A>T, XM_047416907.1:c.1023A>T, XM_047416898.1:c.1266A>T, XM_047416900.1:c.1251A>T, XM_047416899.1:c.1266A>T, XM_047416901.1:c.1251A>T, XM_047416908.1:c.1050A>T, XP_005248516.1:p.Lys422Asn, XP_005248515.1:p.Lys423Asn, NP_789786.2:p.Lys423Asn, XP_006714633.1:p.Lys346Asn, XP_005248518.1:p.Lys333Asn, XP_005248520.1:p.Lys298Asn, XP_011541557.1:p.Lys423Asn, XP_011541558.1:p.Lys423Asn, XP_016864700.1:p.Lys192Asn, XP_011541561.1:p.Lys423Asn, XP_011541560.1:p.Lys423Asn, XP_024310164.1:p.Lys422Asn, NP_001284626.1:p.Lys298Asn, XP_016864696.1:p.Lys418Asn, XP_016864695.1:p.Lys422Asn, XP_047272850.1:p.Lys417Asn, XP_047272859.1:p.Lys350Asn, XP_047272861.1:p.Lys345Asn, XP_047272849.1:p.Lys418Asn, XP_047272851.1:p.Lys417Asn, XP_047272858.1:p.Lys350Asn, XP_047272862.1:p.Lys345Asn, XP_047272852.1:p.Lys387Asn, XP_047272853.1:p.Lys386Asn, XP_047272860.1:p.Lys346Asn, XP_047272863.1:p.Lys341Asn, XP_047272854.1:p.Lys422Asn, XP_047272856.1:p.Lys417Asn, XP_047272855.1:p.Lys422Asn, XP_047272857.1:p.Lys417Asn, XP_047272864.1:p.Lys350Asn

            6.

            rs1472566874 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              5:69292317 (GRCh38)
              5:68588144 (GRCh37)
              Canonical SPDI:
              NC_000005.10:69292316:C:T
              Gene:
              CCDC125 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              NC_000005.10:g.69292317C>T, NC_000005.9:g.68588144C>T, NW_003315917.2:g.75477C>T, XM_005248459.6:c.967G>A, XM_005248459.5:c.967G>A, XM_005248459.4:c.967G>A, XM_005248459.3:c.967G>A, XM_005248459.2:c.967G>A, XM_005248459.1:c.967G>A, XM_005248458.6:c.970G>A, XM_005248458.5:c.970G>A, XM_005248458.4:c.970G>A, XM_005248458.3:c.970G>A, XM_005248458.2:c.970G>A, XM_005248458.1:c.970G>A, NM_176816.5:c.970G>A, NM_176816.4:c.970G>A, NM_176816.3:c.970G>A, XM_006714570.5:c.739G>A, XM_006714570.4:c.739G>A, XM_006714570.3:c.739G>A, XM_006714570.2:c.739G>A, XM_006714570.1:c.739G>A, XM_005248461.5:c.700G>A, XM_005248461.4:c.700G>A, XM_005248461.3:c.700G>A, XM_005248461.2:c.700G>A, XM_005248461.1:c.700G>A, XM_005248463.5:c.595G>A, XM_005248463.4:c.595G>A, XM_005248463.3:c.595G>A, XM_005248463.2:c.595G>A, XM_005248463.1:c.595G>A, XM_011543255.4:c.970G>A, XM_011543255.3:c.970G>A, XM_011543255.2:c.970G>A, XM_011543255.1:c.970G>A, XM_011543256.4:c.970G>A, XM_011543256.3:c.970G>A, XM_011543256.2:c.970G>A, XM_011543256.1:c.970G>A, XM_017009211.3:c.277G>A, XM_017009211.2:c.277G>A, XM_017009211.1:c.277G>A, XM_011543259.3:c.970G>A, XM_011543259.2:c.970G>A, XM_011543259.1:c.970G>A, XM_011543258.3:c.970G>A, XM_011543258.2:c.970G>A, XM_011543258.1:c.970G>A, XM_024454396.2:c.967G>A, XM_024454396.1:c.967G>A, NM_001297697.2:c.595G>A, NM_001297697.1:c.595G>A, XM_017009207.2:c.955G>A, XM_017009207.1:c.955G>A, XM_017009206.3:c.967G>A, XM_017009206.2:c.967G>A, XM_017009206.1:c.967G>A, XM_047416894.1:c.952G>A, XM_047416903.1:c.751G>A, XM_047416905.1:c.736G>A, XM_047416893.1:c.955G>A, XM_047416895.1:c.952G>A, XM_047416902.1:c.751G>A, XM_047416906.1:c.736G>A, XM_047416896.1:c.862G>A, XM_047416897.1:c.859G>A, XM_047416904.1:c.739G>A, XM_047416907.1:c.724G>A, XM_047416898.1:c.967G>A, XM_047416900.1:c.952G>A, XM_047416899.1:c.967G>A, XM_047416901.1:c.952G>A, XM_047416908.1:c.751G>A, XP_005248516.1:p.Asp323Asn, XP_005248515.1:p.Asp324Asn, NP_789786.2:p.Asp324Asn, XP_006714633.1:p.Asp247Asn, XP_005248518.1:p.Asp234Asn, XP_005248520.1:p.Asp199Asn, XP_011541557.1:p.Asp324Asn, XP_011541558.1:p.Asp324Asn, XP_016864700.1:p.Asp93Asn, XP_011541561.1:p.Asp324Asn, XP_011541560.1:p.Asp324Asn, XP_024310164.1:p.Asp323Asn, NP_001284626.1:p.Asp199Asn, XP_016864696.1:p.Asp319Asn, XP_016864695.1:p.Asp323Asn, XP_047272850.1:p.Asp318Asn, XP_047272859.1:p.Asp251Asn, XP_047272861.1:p.Asp246Asn, XP_047272849.1:p.Asp319Asn, XP_047272851.1:p.Asp318Asn, XP_047272858.1:p.Asp251Asn, XP_047272862.1:p.Asp246Asn, XP_047272852.1:p.Asp288Asn, XP_047272853.1:p.Asp287Asn, XP_047272860.1:p.Asp247Asn, XP_047272863.1:p.Asp242Asn, XP_047272854.1:p.Asp323Asn, XP_047272856.1:p.Asp318Asn, XP_047272855.1:p.Asp323Asn, XP_047272857.1:p.Asp318Asn, XP_047272864.1:p.Asp251Asn

              7.

              rs1472364497 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                5:69292239 (GRCh38)
                5:68588066 (GRCh37)
                Canonical SPDI:
                NC_000005.10:69292238:T:C
                Gene:
                CCDC125 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000005.10:g.69292239T>C, NC_000005.9:g.68588066T>C, NW_003315917.2:g.75399T>C, XM_005248459.6:c.1045A>G, XM_005248459.5:c.1045A>G, XM_005248459.4:c.1045A>G, XM_005248459.3:c.1045A>G, XM_005248459.2:c.1045A>G, XM_005248459.1:c.1045A>G, XM_005248458.6:c.1048A>G, XM_005248458.5:c.1048A>G, XM_005248458.4:c.1048A>G, XM_005248458.3:c.1048A>G, XM_005248458.2:c.1048A>G, XM_005248458.1:c.1048A>G, NM_176816.5:c.1048A>G, NM_176816.4:c.1048A>G, NM_176816.3:c.1048A>G, XM_006714570.5:c.817A>G, XM_006714570.4:c.817A>G, XM_006714570.3:c.817A>G, XM_006714570.2:c.817A>G, XM_006714570.1:c.817A>G, XM_005248461.5:c.778A>G, XM_005248461.4:c.778A>G, XM_005248461.3:c.778A>G, XM_005248461.2:c.778A>G, XM_005248461.1:c.778A>G, XM_005248463.5:c.673A>G, XM_005248463.4:c.673A>G, XM_005248463.3:c.673A>G, XM_005248463.2:c.673A>G, XM_005248463.1:c.673A>G, XM_011543255.4:c.1048A>G, XM_011543255.3:c.1048A>G, XM_011543255.2:c.1048A>G, XM_011543255.1:c.1048A>G, XM_011543256.4:c.1048A>G, XM_011543256.3:c.1048A>G, XM_011543256.2:c.1048A>G, XM_011543256.1:c.1048A>G, XM_017009206.3:c.1045A>G, XM_017009206.2:c.1045A>G, XM_017009206.1:c.1045A>G, XM_017009211.3:c.355A>G, XM_017009211.2:c.355A>G, XM_017009211.1:c.355A>G, XM_011543259.3:c.1048A>G, XM_011543259.2:c.1048A>G, XM_011543259.1:c.1048A>G, XM_011543258.3:c.1048A>G, XM_011543258.2:c.1048A>G, XM_011543258.1:c.1048A>G, XM_024454396.2:c.1045A>G, XM_024454396.1:c.1045A>G, NM_001297697.2:c.673A>G, NM_001297697.1:c.673A>G, XM_017009207.2:c.1033A>G, XM_017009207.1:c.1033A>G, XM_047416903.1:c.829A>G, XM_047416905.1:c.814A>G, XM_047416893.1:c.1033A>G, XM_047416895.1:c.1030A>G, XM_047416902.1:c.829A>G, XM_047416906.1:c.814A>G, XM_047416896.1:c.940A>G, XM_047416897.1:c.937A>G, XM_047416904.1:c.817A>G, XM_047416907.1:c.802A>G, XM_047416898.1:c.1045A>G, XM_047416900.1:c.1030A>G, XM_047416899.1:c.1045A>G, XM_047416901.1:c.1030A>G, XM_047416908.1:c.829A>G, XM_047416894.1:c.1030A>G, XP_005248516.1:p.Met349Val, XP_005248515.1:p.Met350Val, NP_789786.2:p.Met350Val, XP_006714633.1:p.Met273Val, XP_005248518.1:p.Met260Val, XP_005248520.1:p.Met225Val, XP_011541557.1:p.Met350Val, XP_011541558.1:p.Met350Val, XP_016864695.1:p.Met349Val, XP_016864700.1:p.Met119Val, XP_011541561.1:p.Met350Val, XP_011541560.1:p.Met350Val, XP_024310164.1:p.Met349Val, NP_001284626.1:p.Met225Val, XP_016864696.1:p.Met345Val, XP_047272859.1:p.Met277Val, XP_047272861.1:p.Met272Val, XP_047272849.1:p.Met345Val, XP_047272851.1:p.Met344Val, XP_047272858.1:p.Met277Val, XP_047272862.1:p.Met272Val, XP_047272852.1:p.Met314Val, XP_047272853.1:p.Met313Val, XP_047272860.1:p.Met273Val, XP_047272863.1:p.Met268Val, XP_047272854.1:p.Met349Val, XP_047272856.1:p.Met344Val, XP_047272855.1:p.Met349Val, XP_047272857.1:p.Met344Val, XP_047272864.1:p.Met277Val, XP_047272850.1:p.Met344Val

                8.

                rs1472161300 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>T [Show Flanks]
                  Chromosome:
                  5:69282853 (GRCh38)
                  5:68578680 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:69282852:A:T
                  Gene:
                  CCDC125 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.69282853A>T, NC_000005.9:g.68578680A>T, NW_003315917.2:g.66029A>T, XM_005248459.6:c.1409T>A, XM_005248459.5:c.1409T>A, XM_005248459.4:c.1409T>A, XM_005248459.3:c.1409T>A, XM_005248459.2:c.1409T>A, XM_005248459.1:c.1409T>A, XM_005248458.6:c.1412T>A, XM_005248458.5:c.1412T>A, XM_005248458.4:c.1412T>A, XM_005248458.3:c.1412T>A, XM_005248458.2:c.1412T>A, XM_005248458.1:c.1412T>A, NM_176816.5:c.1412T>A, NM_176816.4:c.1412T>A, NM_176816.3:c.1412T>A, XM_006714570.5:c.1181T>A, XM_006714570.4:c.1181T>A, XM_006714570.3:c.1181T>A, XM_006714570.2:c.1181T>A, XM_006714570.1:c.1181T>A, XM_005248461.5:c.1142T>A, XM_005248461.4:c.1142T>A, XM_005248461.3:c.1142T>A, XM_005248461.2:c.1142T>A, XM_005248461.1:c.1142T>A, XM_005248463.5:c.1037T>A, XM_005248463.4:c.1037T>A, XM_005248463.3:c.1037T>A, XM_005248463.2:c.1037T>A, XM_005248463.1:c.1037T>A, XM_011543255.4:c.1412T>A, XM_011543255.3:c.1412T>A, XM_011543255.2:c.1412T>A, XM_011543255.1:c.1412T>A, XM_011543256.4:c.1412T>A, XM_011543256.3:c.1412T>A, XM_011543256.2:c.1412T>A, XM_011543256.1:c.1412T>A, XM_017009211.3:c.719T>A, XM_017009211.2:c.719T>A, XM_017009211.1:c.719T>A, XM_024454396.2:c.1409T>A, XM_024454396.1:c.1409T>A, NM_001297697.2:c.1037T>A, NM_001297697.1:c.1037T>A, NM_001297696.2:c.*187T>A, NM_001297696.1:c.*187T>A, XM_017009206.3:c.1409T>A, XM_017009206.2:c.1409T>A, XM_017009206.1:c.1409T>A, XM_047416894.1:c.1394T>A, XM_047416903.1:c.1193T>A, XM_047416905.1:c.1178T>A, XM_047416893.1:c.1397T>A, XM_047416895.1:c.1394T>A, XM_047416902.1:c.1193T>A, XM_047416906.1:c.1178T>A, XM_047416896.1:c.1304T>A, XM_047416897.1:c.1301T>A, XM_047416904.1:c.1181T>A, XM_047416907.1:c.1166T>A, XP_005248516.1:p.Ile470Lys, XP_005248515.1:p.Ile471Lys, NP_789786.2:p.Ile471Lys, XP_006714633.1:p.Ile394Lys, XP_005248518.1:p.Ile381Lys, XP_005248520.1:p.Ile346Lys, XP_011541557.1:p.Ile471Lys, XP_011541558.1:p.Ile471Lys, XP_016864700.1:p.Ile240Lys, XP_024310164.1:p.Ile470Lys, NP_001284626.1:p.Ile346Lys, XP_016864695.1:p.Ile470Lys, XP_047272850.1:p.Ile465Lys, XP_047272859.1:p.Ile398Lys, XP_047272861.1:p.Ile393Lys, XP_047272849.1:p.Ile466Lys, XP_047272851.1:p.Ile465Lys, XP_047272858.1:p.Ile398Lys, XP_047272862.1:p.Ile393Lys, XP_047272852.1:p.Ile435Lys, XP_047272853.1:p.Ile434Lys, XP_047272860.1:p.Ile394Lys, XP_047272863.1:p.Ile389Lys

                  9.

                  rs1471393590 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    5:69308006 (GRCh38)
                    5:68603833 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:69308005:C:A
                    Gene:
                    CCDC125 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000005.10:g.69308006C>A, NC_000005.9:g.68603833C>A, NW_003315917.2:g.91170C>A, XM_005248459.6:c.473G>T, XM_005248459.5:c.473G>T, XM_005248459.4:c.473G>T, XM_005248459.3:c.473G>T, XM_005248459.2:c.473G>T, XM_005248459.1:c.473G>T, XM_005248458.6:c.476G>T, XM_005248458.5:c.476G>T, XM_005248458.4:c.476G>T, XM_005248458.3:c.476G>T, XM_005248458.2:c.476G>T, XM_005248458.1:c.476G>T, NM_176816.5:c.476G>T, NM_176816.4:c.476G>T, NM_176816.3:c.476G>T, XM_006714570.5:c.245G>T, XM_006714570.4:c.245G>T, XM_006714570.3:c.245G>T, XM_006714570.2:c.245G>T, XM_006714570.1:c.245G>T, XM_005248461.5:c.206G>T, XM_005248461.4:c.206G>T, XM_005248461.3:c.206G>T, XM_005248461.2:c.206G>T, XM_005248461.1:c.206G>T, XM_005248463.5:c.101G>T, XM_005248463.4:c.101G>T, XM_005248463.3:c.101G>T, XM_005248463.2:c.101G>T, XM_005248463.1:c.101G>T, XM_011543255.4:c.476G>T, XM_011543255.3:c.476G>T, XM_011543255.2:c.476G>T, XM_011543255.1:c.476G>T, XM_011543256.4:c.476G>T, XM_011543256.3:c.476G>T, XM_011543256.2:c.476G>T, XM_011543256.1:c.476G>T, XM_017009206.3:c.473G>T, XM_017009206.2:c.473G>T, XM_017009206.1:c.473G>T, XM_011543259.3:c.476G>T, XM_011543259.2:c.476G>T, XM_011543259.1:c.476G>T, XM_011543258.3:c.476G>T, XM_011543258.2:c.476G>T, XM_011543258.1:c.476G>T, XM_011543260.3:c.476G>T, XM_011543260.2:c.476G>T, XM_011543260.1:c.476G>T, XM_024454396.2:c.473G>T, XM_024454396.1:c.473G>T, NM_001297697.2:c.101G>T, NM_001297697.1:c.101G>T, NM_001297696.2:c.473G>T, NM_001297696.1:c.473G>T, XM_017009207.2:c.476G>T, XM_017009207.1:c.476G>T, XM_047416903.1:c.257G>T, XM_047416905.1:c.257G>T, XM_047416893.1:c.476G>T, XM_047416895.1:c.473G>T, XM_047416902.1:c.257G>T, XM_047416906.1:c.257G>T, XM_047416896.1:c.476G>T, XM_047416897.1:c.473G>T, XM_047416904.1:c.245G>T, XM_047416907.1:c.245G>T, XM_047416898.1:c.473G>T, XM_047416900.1:c.473G>T, XM_047416899.1:c.473G>T, XM_047416901.1:c.473G>T, XM_047416908.1:c.257G>T, XM_047416894.1:c.473G>T, XP_005248516.1:p.Ser158Ile, XP_005248515.1:p.Ser159Ile, NP_789786.2:p.Ser159Ile, XP_006714633.1:p.Ser82Ile, XP_005248518.1:p.Ser69Ile, XP_005248520.1:p.Ser34Ile, XP_011541557.1:p.Ser159Ile, XP_011541558.1:p.Ser159Ile, XP_016864695.1:p.Ser158Ile, XP_011541561.1:p.Ser159Ile, XP_011541560.1:p.Ser159Ile, XP_011541562.1:p.Ser159Ile, XP_024310164.1:p.Ser158Ile, NP_001284626.1:p.Ser34Ile, NP_001284625.1:p.Ser158Ile, XP_016864696.1:p.Ser159Ile, XP_047272859.1:p.Ser86Ile, XP_047272861.1:p.Ser86Ile, XP_047272849.1:p.Ser159Ile, XP_047272851.1:p.Ser158Ile, XP_047272858.1:p.Ser86Ile, XP_047272862.1:p.Ser86Ile, XP_047272852.1:p.Ser159Ile, XP_047272853.1:p.Ser158Ile, XP_047272860.1:p.Ser82Ile, XP_047272863.1:p.Ser82Ile, XP_047272854.1:p.Ser158Ile, XP_047272856.1:p.Ser158Ile, XP_047272855.1:p.Ser158Ile, XP_047272857.1:p.Ser158Ile, XP_047272864.1:p.Ser86Ile, XP_047272850.1:p.Ser158Ile

                    10.

                    rs1468295387 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      5:69282925 (GRCh38)
                      5:68578752 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:69282924:G:A,NC_000005.10:69282924:G:C
                      Gene:
                      CCDC125 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                      HGVS:
                      NC_000005.10:g.69282925G>A, NC_000005.10:g.69282925G>C, NC_000005.9:g.68578752G>A, NC_000005.9:g.68578752G>C, NW_003315917.2:g.66101G>A, NW_003315917.2:g.66101G>C, XM_005248459.6:c.1337C>T, XM_005248459.6:c.1337C>G, XM_005248459.5:c.1337C>T, XM_005248459.5:c.1337C>G, XM_005248459.4:c.1337C>T, XM_005248459.4:c.1337C>G, XM_005248459.3:c.1337C>T, XM_005248459.3:c.1337C>G, XM_005248459.2:c.1337C>T, XM_005248459.2:c.1337C>G, XM_005248459.1:c.1337C>T, XM_005248459.1:c.1337C>G, XM_005248458.6:c.1340C>T, XM_005248458.6:c.1340C>G, XM_005248458.5:c.1340C>T, XM_005248458.5:c.1340C>G, XM_005248458.4:c.1340C>T, XM_005248458.4:c.1340C>G, XM_005248458.3:c.1340C>T, XM_005248458.3:c.1340C>G, XM_005248458.2:c.1340C>T, XM_005248458.2:c.1340C>G, XM_005248458.1:c.1340C>T, XM_005248458.1:c.1340C>G, NM_176816.5:c.1340C>T, NM_176816.5:c.1340C>G, NM_176816.4:c.1340C>T, NM_176816.4:c.1340C>G, NM_176816.3:c.1340C>T, NM_176816.3:c.1340C>G, XM_006714570.5:c.1109C>T, XM_006714570.5:c.1109C>G, XM_006714570.4:c.1109C>T, XM_006714570.4:c.1109C>G, XM_006714570.3:c.1109C>T, XM_006714570.3:c.1109C>G, XM_006714570.2:c.1109C>T, XM_006714570.2:c.1109C>G, XM_006714570.1:c.1109C>T, XM_006714570.1:c.1109C>G, XM_005248461.5:c.1070C>T, XM_005248461.5:c.1070C>G, XM_005248461.4:c.1070C>T, XM_005248461.4:c.1070C>G, XM_005248461.3:c.1070C>T, XM_005248461.3:c.1070C>G, XM_005248461.2:c.1070C>T, XM_005248461.2:c.1070C>G, XM_005248461.1:c.1070C>T, XM_005248461.1:c.1070C>G, XM_005248463.5:c.965C>T, XM_005248463.5:c.965C>G, XM_005248463.4:c.965C>T, XM_005248463.4:c.965C>G, XM_005248463.3:c.965C>T, XM_005248463.3:c.965C>G, XM_005248463.2:c.965C>T, XM_005248463.2:c.965C>G, XM_005248463.1:c.965C>T, XM_005248463.1:c.965C>G, XM_011543255.4:c.1340C>T, XM_011543255.4:c.1340C>G, XM_011543255.3:c.1340C>T, XM_011543255.3:c.1340C>G, XM_011543255.2:c.1340C>T, XM_011543255.2:c.1340C>G, XM_011543255.1:c.1340C>T, XM_011543255.1:c.1340C>G, XM_011543256.4:c.1340C>T, XM_011543256.4:c.1340C>G, XM_011543256.3:c.1340C>T, XM_011543256.3:c.1340C>G, XM_011543256.2:c.1340C>T, XM_011543256.2:c.1340C>G, XM_011543256.1:c.1340C>T, XM_011543256.1:c.1340C>G, XM_017009206.3:c.1337C>T, XM_017009206.3:c.1337C>G, XM_017009206.2:c.1337C>T, XM_017009206.2:c.1337C>G, XM_017009206.1:c.1337C>T, XM_017009206.1:c.1337C>G, XM_017009211.3:c.647C>T, XM_017009211.3:c.647C>G, XM_017009211.2:c.647C>T, XM_017009211.2:c.647C>G, XM_017009211.1:c.647C>T, XM_017009211.1:c.647C>G, XM_011543259.3:c.1340C>T, XM_011543259.3:c.1340C>G, XM_011543259.2:c.1340C>T, XM_011543259.2:c.1340C>G, XM_011543259.1:c.1340C>T, XM_011543259.1:c.1340C>G, XM_011543258.3:c.1340C>T, XM_011543258.3:c.1340C>G, XM_011543258.2:c.1340C>T, XM_011543258.2:c.1340C>G, XM_011543258.1:c.1340C>T, XM_011543258.1:c.1340C>G, XM_024454396.2:c.1337C>T, XM_024454396.2:c.1337C>G, XM_024454396.1:c.1337C>T, XM_024454396.1:c.1337C>G, NM_001297697.2:c.965C>T, NM_001297697.2:c.965C>G, NM_001297697.1:c.965C>T, NM_001297697.1:c.965C>G, NM_001297696.2:c.*115C>T, NM_001297696.2:c.*115C>G, NM_001297696.1:c.*115C>T, NM_001297696.1:c.*115C>G, XM_017009207.2:c.1325C>T, XM_017009207.2:c.1325C>G, XM_017009207.1:c.1325C>T, XM_017009207.1:c.1325C>G, XM_047416903.1:c.1121C>T, XM_047416903.1:c.1121C>G, XM_047416905.1:c.1106C>T, XM_047416905.1:c.1106C>G, XM_047416893.1:c.1325C>T, XM_047416893.1:c.1325C>G, XM_047416895.1:c.1322C>T, XM_047416895.1:c.1322C>G, XM_047416902.1:c.1121C>T, XM_047416902.1:c.1121C>G, XM_047416906.1:c.1106C>T, XM_047416906.1:c.1106C>G, XM_047416896.1:c.1232C>T, XM_047416896.1:c.1232C>G, XM_047416897.1:c.1229C>T, XM_047416897.1:c.1229C>G, XM_047416904.1:c.1109C>T, XM_047416904.1:c.1109C>G, XM_047416907.1:c.1094C>T, XM_047416907.1:c.1094C>G, XM_047416898.1:c.1337C>T, XM_047416898.1:c.1337C>G, XM_047416900.1:c.1322C>T, XM_047416900.1:c.1322C>G, XM_047416899.1:c.1337C>T, XM_047416899.1:c.1337C>G, XM_047416901.1:c.1322C>T, XM_047416901.1:c.1322C>G, XM_047416908.1:c.1121C>T, XM_047416908.1:c.1121C>G, XM_047416894.1:c.1322C>T, XM_047416894.1:c.1322C>G, XP_005248516.1:p.Pro446Leu, XP_005248516.1:p.Pro446Arg, XP_005248515.1:p.Pro447Leu, XP_005248515.1:p.Pro447Arg, NP_789786.2:p.Pro447Leu, NP_789786.2:p.Pro447Arg, XP_006714633.1:p.Pro370Leu, XP_006714633.1:p.Pro370Arg, XP_005248518.1:p.Pro357Leu, XP_005248518.1:p.Pro357Arg, XP_005248520.1:p.Pro322Leu, XP_005248520.1:p.Pro322Arg, XP_011541557.1:p.Pro447Leu, XP_011541557.1:p.Pro447Arg, XP_011541558.1:p.Pro447Leu, XP_011541558.1:p.Pro447Arg, XP_016864695.1:p.Pro446Leu, XP_016864695.1:p.Pro446Arg, XP_016864700.1:p.Pro216Leu, XP_016864700.1:p.Pro216Arg, XP_011541561.1:p.Pro447Leu, XP_011541561.1:p.Pro447Arg, XP_011541560.1:p.Pro447Leu, XP_011541560.1:p.Pro447Arg, XP_024310164.1:p.Pro446Leu, XP_024310164.1:p.Pro446Arg, NP_001284626.1:p.Pro322Leu, NP_001284626.1:p.Pro322Arg, XP_016864696.1:p.Pro442Leu, XP_016864696.1:p.Pro442Arg, XP_047272859.1:p.Pro374Leu, XP_047272859.1:p.Pro374Arg, XP_047272861.1:p.Pro369Leu, XP_047272861.1:p.Pro369Arg, XP_047272849.1:p.Pro442Leu, XP_047272849.1:p.Pro442Arg, XP_047272851.1:p.Pro441Leu, XP_047272851.1:p.Pro441Arg, XP_047272858.1:p.Pro374Leu, XP_047272858.1:p.Pro374Arg, XP_047272862.1:p.Pro369Leu, XP_047272862.1:p.Pro369Arg, XP_047272852.1:p.Pro411Leu, XP_047272852.1:p.Pro411Arg, XP_047272853.1:p.Pro410Leu, XP_047272853.1:p.Pro410Arg, XP_047272860.1:p.Pro370Leu, XP_047272860.1:p.Pro370Arg, XP_047272863.1:p.Pro365Leu, XP_047272863.1:p.Pro365Arg, XP_047272854.1:p.Pro446Leu, XP_047272854.1:p.Pro446Arg, XP_047272856.1:p.Pro441Leu, XP_047272856.1:p.Pro441Arg, XP_047272855.1:p.Pro446Leu, XP_047272855.1:p.Pro446Arg, XP_047272857.1:p.Pro441Leu, XP_047272857.1:p.Pro441Arg, XP_047272864.1:p.Pro374Leu, XP_047272864.1:p.Pro374Arg, XP_047272850.1:p.Pro441Leu, XP_047272850.1:p.Pro441Arg

                      11.

                      rs1464399244 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        5:69285387 (GRCh38)
                        5:68581214 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:69285386:T:C
                        Gene:
                        CCDC125 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000005.10:g.69285387T>C, NC_000005.9:g.68581214T>C, NW_003315917.2:g.68562T>C, XM_005248459.6:c.1177A>G, XM_005248459.5:c.1177A>G, XM_005248459.4:c.1177A>G, XM_005248459.3:c.1177A>G, XM_005248459.2:c.1177A>G, XM_005248459.1:c.1177A>G, XM_005248458.6:c.1180A>G, XM_005248458.5:c.1180A>G, XM_005248458.4:c.1180A>G, XM_005248458.3:c.1180A>G, XM_005248458.2:c.1180A>G, XM_005248458.1:c.1180A>G, NM_176816.5:c.1180A>G, NM_176816.4:c.1180A>G, NM_176816.3:c.1180A>G, XM_006714570.5:c.949A>G, XM_006714570.4:c.949A>G, XM_006714570.3:c.949A>G, XM_006714570.2:c.949A>G, XM_006714570.1:c.949A>G, XM_005248461.5:c.910A>G, XM_005248461.4:c.910A>G, XM_005248461.3:c.910A>G, XM_005248461.2:c.910A>G, XM_005248461.1:c.910A>G, XM_005248463.5:c.805A>G, XM_005248463.4:c.805A>G, XM_005248463.3:c.805A>G, XM_005248463.2:c.805A>G, XM_005248463.1:c.805A>G, XM_011543255.4:c.1180A>G, XM_011543255.3:c.1180A>G, XM_011543255.2:c.1180A>G, XM_011543255.1:c.1180A>G, XM_011543256.4:c.1180A>G, XM_011543256.3:c.1180A>G, XM_011543256.2:c.1180A>G, XM_011543256.1:c.1180A>G, XM_017009206.3:c.1177A>G, XM_017009206.2:c.1177A>G, XM_017009206.1:c.1177A>G, XM_017009211.3:c.487A>G, XM_017009211.2:c.487A>G, XM_017009211.1:c.487A>G, XM_011543259.3:c.1180A>G, XM_011543259.2:c.1180A>G, XM_011543259.1:c.1180A>G, XM_011543258.3:c.1180A>G, XM_011543258.2:c.1180A>G, XM_011543258.1:c.1180A>G, XM_024454396.2:c.1177A>G, XM_024454396.1:c.1177A>G, NM_001297697.2:c.805A>G, NM_001297697.1:c.805A>G, NM_001297696.2:c.1002A>G, NM_001297696.1:c.1002A>G, XM_017009207.2:c.1165A>G, XM_017009207.1:c.1165A>G, XM_047416903.1:c.961A>G, XM_047416905.1:c.946A>G, XM_047416893.1:c.1165A>G, XM_047416895.1:c.1162A>G, XM_047416902.1:c.961A>G, XM_047416906.1:c.946A>G, XM_047416896.1:c.1072A>G, XM_047416897.1:c.1069A>G, XM_047416904.1:c.949A>G, XM_047416907.1:c.934A>G, XM_047416898.1:c.1177A>G, XM_047416900.1:c.1162A>G, XM_047416899.1:c.1177A>G, XM_047416901.1:c.1162A>G, XM_047416908.1:c.961A>G, XM_047416894.1:c.1162A>G, XP_005248516.1:p.Met393Val, XP_005248515.1:p.Met394Val, NP_789786.2:p.Met394Val, XP_006714633.1:p.Met317Val, XP_005248518.1:p.Met304Val, XP_005248520.1:p.Met269Val, XP_011541557.1:p.Met394Val, XP_011541558.1:p.Met394Val, XP_016864695.1:p.Met393Val, XP_016864700.1:p.Met163Val, XP_011541561.1:p.Met394Val, XP_011541560.1:p.Met394Val, XP_024310164.1:p.Met393Val, NP_001284626.1:p.Met269Val, XP_016864696.1:p.Met389Val, XP_047272859.1:p.Met321Val, XP_047272861.1:p.Met316Val, XP_047272849.1:p.Met389Val, XP_047272851.1:p.Met388Val, XP_047272858.1:p.Met321Val, XP_047272862.1:p.Met316Val, XP_047272852.1:p.Met358Val, XP_047272853.1:p.Met357Val, XP_047272860.1:p.Met317Val, XP_047272863.1:p.Met312Val, XP_047272854.1:p.Met393Val, XP_047272856.1:p.Met388Val, XP_047272855.1:p.Met393Val, XP_047272857.1:p.Met388Val, XP_047272864.1:p.Met321Val, XP_047272850.1:p.Met388Val

                        12.

                        rs1455426058 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GGGCC>- [Show Flanks]
                          Chromosome:
                          5:69294865 (GRCh38)
                          5:68590692 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:69294862:CCGGGCC:CC
                          Gene:
                          CCDC125 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,frameshift_variant
                          Validated:
                          by frequency
                          MAF:
                          -=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.69294865_69294869del, NC_000005.9:g.68590692_68590696del, NW_003315917.2:g.78025_78029del, XM_005248459.6:c.847_851del, XM_005248459.5:c.847_851del, XM_005248459.4:c.847_851del, XM_005248459.3:c.847_851del, XM_005248459.2:c.847_851del, XM_005248459.1:c.847_851del, XM_005248458.6:c.850_854del, XM_005248458.5:c.850_854del, XM_005248458.4:c.850_854del, XM_005248458.3:c.850_854del, XM_005248458.2:c.850_854del, XM_005248458.1:c.850_854del, NM_176816.5:c.850_854del, NM_176816.4:c.850_854del, NM_176816.3:c.850_854del, XM_006714570.5:c.619_623del, XM_006714570.4:c.619_623del, XM_006714570.3:c.619_623del, XM_006714570.2:c.619_623del, XM_006714570.1:c.619_623del, XM_005248461.5:c.580_584del, XM_005248461.4:c.580_584del, XM_005248461.3:c.580_584del, XM_005248461.2:c.580_584del, XM_005248461.1:c.580_584del, XM_005248463.5:c.475_479del, XM_005248463.4:c.475_479del, XM_005248463.3:c.475_479del, XM_005248463.2:c.475_479del, XM_005248463.1:c.475_479del, XM_011543255.4:c.850_854del, XM_011543255.3:c.850_854del, XM_011543255.2:c.850_854del, XM_011543255.1:c.850_854del, XM_011543256.4:c.850_854del, XM_011543256.3:c.850_854del, XM_011543256.2:c.850_854del, XM_011543256.1:c.850_854del, XM_017009206.3:c.847_851del, XM_017009206.2:c.847_851del, XM_017009206.1:c.847_851del, XM_017009211.3:c.157_161del, XM_017009211.2:c.157_161del, XM_017009211.1:c.157_161del, XM_011543259.3:c.850_854del, XM_011543259.2:c.850_854del, XM_011543259.1:c.850_854del, XM_011543258.3:c.850_854del, XM_011543258.2:c.850_854del, XM_011543258.1:c.850_854del, XM_011543260.3:c.850_854del, XM_011543260.2:c.850_854del, XM_011543260.1:c.850_854del, NM_001297697.2:c.475_479del, NM_001297697.1:c.475_479del, NM_001297696.2:c.847_851del, NM_001297696.1:c.847_851del, XM_024454396.2:c.847_851del, XM_024454396.1:c.847_851del, XM_017009207.2:c.850_854del, XM_017009207.1:c.850_854del, XM_047416894.1:c.847_851del, XM_047416903.1:c.631_635del, XM_047416905.1:c.631_635del, XM_047416893.1:c.850_854del, XM_047416895.1:c.847_851del, XM_047416902.1:c.631_635del, XM_047416906.1:c.631_635del, XM_047416904.1:c.619_623del, XM_047416907.1:c.619_623del, XM_047416898.1:c.847_851del, XM_047416900.1:c.847_851del, XM_047416899.1:c.847_851del, XM_047416901.1:c.847_851del, XM_047416908.1:c.631_635del, XP_005248516.1:p.Pro283fs, XP_005248515.1:p.Pro284fs, NP_789786.2:p.Pro284fs, XP_006714633.1:p.Pro207fs, XP_005248518.1:p.Pro194fs, XP_005248520.1:p.Pro159fs, XP_011541557.1:p.Pro284fs, XP_011541558.1:p.Pro284fs, XP_016864695.1:p.Pro283fs, XP_016864700.1:p.Pro53fs, XP_011541561.1:p.Pro284fs, XP_011541560.1:p.Pro284fs, XP_011541562.1:p.Pro284fs, NP_001284626.1:p.Pro159fs, NP_001284625.1:p.Pro283fs, XP_024310164.1:p.Pro283fs, XP_016864696.1:p.Pro284fs, XP_047272850.1:p.Pro283fs, XP_047272859.1:p.Pro211fs, XP_047272861.1:p.Pro211fs, XP_047272849.1:p.Pro284fs, XP_047272851.1:p.Pro283fs, XP_047272858.1:p.Pro211fs, XP_047272862.1:p.Pro211fs, XP_047272860.1:p.Pro207fs, XP_047272863.1:p.Pro207fs, XP_047272854.1:p.Pro283fs, XP_047272856.1:p.Pro283fs, XP_047272855.1:p.Pro283fs, XP_047272857.1:p.Pro283fs, XP_047272864.1:p.Pro211fs

                          13.

                          rs1455395912 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            5:69300125 (GRCh38)
                            5:68595952 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:69300124:A:C
                            Gene:
                            CCDC125 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.69300125A>C, NC_000005.9:g.68595952A>C, NW_003315917.2:g.83284A>C, XM_005248459.6:c.700T>G, XM_005248459.5:c.700T>G, XM_005248459.4:c.700T>G, XM_005248459.3:c.700T>G, XM_005248459.2:c.700T>G, XM_005248459.1:c.700T>G, XM_005248458.6:c.703T>G, XM_005248458.5:c.703T>G, XM_005248458.4:c.703T>G, XM_005248458.3:c.703T>G, XM_005248458.2:c.703T>G, XM_005248458.1:c.703T>G, NM_176816.5:c.703T>G, NM_176816.4:c.703T>G, NM_176816.3:c.703T>G, XM_006714570.5:c.472T>G, XM_006714570.4:c.472T>G, XM_006714570.3:c.472T>G, XM_006714570.2:c.472T>G, XM_006714570.1:c.472T>G, XM_005248461.5:c.433T>G, XM_005248461.4:c.433T>G, XM_005248461.3:c.433T>G, XM_005248461.2:c.433T>G, XM_005248461.1:c.433T>G, XM_005248463.5:c.328T>G, XM_005248463.4:c.328T>G, XM_005248463.3:c.328T>G, XM_005248463.2:c.328T>G, XM_005248463.1:c.328T>G, XM_011543255.4:c.703T>G, XM_011543255.3:c.703T>G, XM_011543255.2:c.703T>G, XM_011543255.1:c.703T>G, XM_011543256.4:c.703T>G, XM_011543256.3:c.703T>G, XM_011543256.2:c.703T>G, XM_011543256.1:c.703T>G, XM_017009206.3:c.700T>G, XM_017009206.2:c.700T>G, XM_017009206.1:c.700T>G, XM_017009211.3:c.10T>G, XM_017009211.2:c.10T>G, XM_017009211.1:c.10T>G, XM_011543259.3:c.703T>G, XM_011543259.2:c.703T>G, XM_011543259.1:c.703T>G, XM_011543258.3:c.703T>G, XM_011543258.2:c.703T>G, XM_011543258.1:c.703T>G, XM_011543260.3:c.703T>G, XM_011543260.2:c.703T>G, XM_011543260.1:c.703T>G, NM_001297697.2:c.328T>G, NM_001297697.1:c.328T>G, NM_001297696.2:c.700T>G, NM_001297696.1:c.700T>G, XM_017009207.2:c.703T>G, XM_017009207.1:c.703T>G, XM_047416894.1:c.700T>G, XM_047416903.1:c.484T>G, XM_047416905.1:c.484T>G, XM_047416893.1:c.703T>G, XM_047416895.1:c.700T>G, XM_047416902.1:c.484T>G, XM_047416906.1:c.484T>G, XM_047416896.1:c.703T>G, XM_047416897.1:c.700T>G, XM_047416904.1:c.472T>G, XM_047416907.1:c.472T>G, XM_047416898.1:c.700T>G, XM_047416900.1:c.700T>G, XM_047416899.1:c.700T>G, XM_047416908.1:c.484T>G, XM_024454396.2:c.700T>G, XM_024454396.1:c.700T>G, XM_047416901.1:c.700T>G, XP_005248516.1:p.Leu234Val, XP_005248515.1:p.Leu235Val, NP_789786.2:p.Leu235Val, XP_006714633.1:p.Leu158Val, XP_005248518.1:p.Leu145Val, XP_005248520.1:p.Leu110Val, XP_011541557.1:p.Leu235Val, XP_011541558.1:p.Leu235Val, XP_016864695.1:p.Leu234Val, XP_016864700.1:p.Leu4Val, XP_011541561.1:p.Leu235Val, XP_011541560.1:p.Leu235Val, XP_011541562.1:p.Leu235Val, NP_001284626.1:p.Leu110Val, NP_001284625.1:p.Leu234Val, XP_016864696.1:p.Leu235Val, XP_047272850.1:p.Leu234Val, XP_047272859.1:p.Leu162Val, XP_047272861.1:p.Leu162Val, XP_047272849.1:p.Leu235Val, XP_047272851.1:p.Leu234Val, XP_047272858.1:p.Leu162Val, XP_047272862.1:p.Leu162Val, XP_047272852.1:p.Leu235Val, XP_047272853.1:p.Leu234Val, XP_047272860.1:p.Leu158Val, XP_047272863.1:p.Leu158Val, XP_047272854.1:p.Leu234Val, XP_047272856.1:p.Leu234Val, XP_047272855.1:p.Leu234Val, XP_047272864.1:p.Leu162Val, XP_024310164.1:p.Leu234Val, XP_047272857.1:p.Leu234Val

                            14.

                            rs1455309001 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TT>- [Show Flanks]
                              Chromosome:
                              5:69294796 (GRCh38)
                              5:68590623 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:69294795:TT:
                              Gene:
                              CCDC125 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,frameshift_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000005.10:g.69294796_69294797del, NC_000005.9:g.68590623_68590624del, NW_003315917.2:g.77956_77957del, XM_005248459.6:c.917_918del, XM_005248459.5:c.917_918del, XM_005248459.4:c.917_918del, XM_005248459.3:c.917_918del, XM_005248459.2:c.917_918del, XM_005248459.1:c.917_918del, XM_005248458.6:c.920_921del, XM_005248458.5:c.920_921del, XM_005248458.4:c.920_921del, XM_005248458.3:c.920_921del, XM_005248458.2:c.920_921del, XM_005248458.1:c.920_921del, NM_176816.5:c.920_921del, NM_176816.4:c.920_921del, NM_176816.3:c.920_921del, XM_006714570.5:c.689_690del, XM_006714570.4:c.689_690del, XM_006714570.3:c.689_690del, XM_006714570.2:c.689_690del, XM_006714570.1:c.689_690del, XM_005248461.5:c.650_651del, XM_005248461.4:c.650_651del, XM_005248461.3:c.650_651del, XM_005248461.2:c.650_651del, XM_005248461.1:c.650_651del, XM_005248463.5:c.545_546del, XM_005248463.4:c.545_546del, XM_005248463.3:c.545_546del, XM_005248463.2:c.545_546del, XM_005248463.1:c.545_546del, XM_011543255.4:c.920_921del, XM_011543255.3:c.920_921del, XM_011543255.2:c.920_921del, XM_011543255.1:c.920_921del, XM_011543256.4:c.920_921del, XM_011543256.3:c.920_921del, XM_011543256.2:c.920_921del, XM_011543256.1:c.920_921del, XM_017009206.3:c.917_918del, XM_017009206.2:c.917_918del, XM_017009206.1:c.917_918del, XM_017009211.3:c.227_228del, XM_017009211.2:c.227_228del, XM_017009211.1:c.227_228del, XM_011543259.3:c.920_921del, XM_011543259.2:c.920_921del, XM_011543259.1:c.920_921del, XM_011543258.3:c.920_921del, XM_011543258.2:c.920_921del, XM_011543258.1:c.920_921del, XM_011543260.3:c.920_921del, XM_011543260.2:c.920_921del, XM_011543260.1:c.920_921del, NM_001297697.2:c.545_546del, NM_001297697.1:c.545_546del, NM_001297696.2:c.917_918del, NM_001297696.1:c.917_918del, XM_017009207.2:c.920_921del, XM_017009207.1:c.920_921del, XM_047416894.1:c.917_918del, XM_047416903.1:c.701_702del, XM_047416905.1:c.701_702del, XM_047416893.1:c.920_921del, XM_047416895.1:c.917_918del, XM_047416902.1:c.701_702del, XM_047416906.1:c.701_702del, XM_047416904.1:c.689_690del, XM_047416907.1:c.689_690del, XM_047416898.1:c.917_918del, XM_047416900.1:c.917_918del, XM_047416899.1:c.917_918del, XM_047416908.1:c.701_702del, XM_024454396.2:c.917_918del, XM_024454396.1:c.917_918del, XM_047416901.1:c.917_918del, XP_005248516.1:p.Gln306fs, XP_005248515.1:p.Gln307fs, NP_789786.2:p.Gln307fs, XP_006714633.1:p.Gln230fs, XP_005248518.1:p.Gln217fs, XP_005248520.1:p.Gln182fs, XP_011541557.1:p.Gln307fs, XP_011541558.1:p.Gln307fs, XP_016864695.1:p.Gln306fs, XP_016864700.1:p.Gln76fs, XP_011541561.1:p.Gln307fs, XP_011541560.1:p.Gln307fs, XP_011541562.1:p.Gln307fs, NP_001284626.1:p.Gln182fs, NP_001284625.1:p.Gln306fs, XP_016864696.1:p.Gln307fs, XP_047272850.1:p.Gln306fs, XP_047272859.1:p.Gln234fs, XP_047272861.1:p.Gln234fs, XP_047272849.1:p.Gln307fs, XP_047272851.1:p.Gln306fs, XP_047272858.1:p.Gln234fs, XP_047272862.1:p.Gln234fs, XP_047272860.1:p.Gln230fs, XP_047272863.1:p.Gln230fs, XP_047272854.1:p.Gln306fs, XP_047272856.1:p.Gln306fs, XP_047272855.1:p.Gln306fs, XP_047272864.1:p.Gln234fs, XP_024310164.1:p.Gln306fs, XP_047272857.1:p.Gln306fs

                              15.

                              rs1452962236 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                5:69311166 (GRCh38)
                                5:68606993 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:69311165:T:C
                                Gene:
                                CCDC125 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000071/1 (TOMMO)
                                HGVS:
                                NC_000005.10:g.69311166T>C, NC_000005.9:g.68606993T>C, NW_003315917.2:g.94330T>C, XM_005248459.6:c.402A>G, XM_005248459.5:c.402A>G, XM_005248459.4:c.402A>G, XM_005248459.3:c.402A>G, XM_005248459.2:c.402A>G, XM_005248459.1:c.402A>G, XM_005248458.6:c.405A>G, XM_005248458.5:c.405A>G, XM_005248458.4:c.405A>G, XM_005248458.3:c.405A>G, XM_005248458.2:c.405A>G, XM_005248458.1:c.405A>G, NM_176816.5:c.405A>G, NM_176816.4:c.405A>G, NM_176816.3:c.405A>G, XM_006714570.5:c.174A>G, XM_006714570.4:c.174A>G, XM_006714570.3:c.174A>G, XM_006714570.2:c.174A>G, XM_006714570.1:c.174A>G, XM_005248461.5:c.135A>G, XM_005248461.4:c.135A>G, XM_005248461.3:c.135A>G, XM_005248461.2:c.135A>G, XM_005248461.1:c.135A>G, XM_005248463.5:c.30A>G, XM_005248463.4:c.30A>G, XM_005248463.3:c.30A>G, XM_005248463.2:c.30A>G, XM_005248463.1:c.30A>G, XM_011543255.4:c.405A>G, XM_011543255.3:c.405A>G, XM_011543255.2:c.405A>G, XM_011543255.1:c.405A>G, XM_011543256.4:c.405A>G, XM_011543256.3:c.405A>G, XM_011543256.2:c.405A>G, XM_011543256.1:c.405A>G, XM_011543259.3:c.405A>G, XM_011543259.2:c.405A>G, XM_011543259.1:c.405A>G, XM_011543258.3:c.405A>G, XM_011543258.2:c.405A>G, XM_011543258.1:c.405A>G, XM_011543260.3:c.405A>G, XM_011543260.2:c.405A>G, XM_011543260.1:c.405A>G, XM_024454396.2:c.402A>G, XM_024454396.1:c.402A>G, NM_001297697.2:c.30A>G, NM_001297697.1:c.30A>G, NM_001297696.2:c.402A>G, NM_001297696.1:c.402A>G, XM_017009207.2:c.405A>G, XM_017009207.1:c.405A>G, XM_017009206.3:c.402A>G, XM_017009206.2:c.402A>G, XM_017009206.1:c.402A>G, XM_047416894.1:c.402A>G, XM_047416903.1:c.186A>G, XM_047416905.1:c.186A>G, XM_047416893.1:c.405A>G, XM_047416895.1:c.402A>G, XM_047416902.1:c.186A>G, XM_047416906.1:c.186A>G, XM_047416896.1:c.405A>G, XM_047416897.1:c.402A>G, XM_047416904.1:c.174A>G, XM_047416907.1:c.174A>G, XM_047416898.1:c.402A>G, XM_047416900.1:c.402A>G, XM_047416899.1:c.402A>G, XM_047416901.1:c.402A>G, XM_047416908.1:c.186A>G

                                16.

                                rs1451565049 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  5:69308028 (GRCh38)
                                  5:68603855 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:69308027:C:G,NC_000005.10:69308027:C:T
                                  Gene:
                                  CCDC125 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000005.10:g.69308028C>G, NC_000005.10:g.69308028C>T, NC_000005.9:g.68603855C>G, NC_000005.9:g.68603855C>T, NW_003315917.2:g.91192C>G, NW_003315917.2:g.91192C>T, XM_005248459.6:c.451G>C, XM_005248459.6:c.451G>A, XM_005248459.5:c.451G>C, XM_005248459.5:c.451G>A, XM_005248459.4:c.451G>C, XM_005248459.4:c.451G>A, XM_005248459.3:c.451G>C, XM_005248459.3:c.451G>A, XM_005248459.2:c.451G>C, XM_005248459.2:c.451G>A, XM_005248459.1:c.451G>C, XM_005248459.1:c.451G>A, XM_005248458.6:c.454G>C, XM_005248458.6:c.454G>A, XM_005248458.5:c.454G>C, XM_005248458.5:c.454G>A, XM_005248458.4:c.454G>C, XM_005248458.4:c.454G>A, XM_005248458.3:c.454G>C, XM_005248458.3:c.454G>A, XM_005248458.2:c.454G>C, XM_005248458.2:c.454G>A, XM_005248458.1:c.454G>C, XM_005248458.1:c.454G>A, NM_176816.5:c.454G>C, NM_176816.5:c.454G>A, NM_176816.4:c.454G>C, NM_176816.4:c.454G>A, NM_176816.3:c.454G>C, NM_176816.3:c.454G>A, XM_006714570.5:c.223G>C, XM_006714570.5:c.223G>A, XM_006714570.4:c.223G>C, XM_006714570.4:c.223G>A, XM_006714570.3:c.223G>C, XM_006714570.3:c.223G>A, XM_006714570.2:c.223G>C, XM_006714570.2:c.223G>A, XM_006714570.1:c.223G>C, XM_006714570.1:c.223G>A, XM_005248461.5:c.184G>C, XM_005248461.5:c.184G>A, XM_005248461.4:c.184G>C, XM_005248461.4:c.184G>A, XM_005248461.3:c.184G>C, XM_005248461.3:c.184G>A, XM_005248461.2:c.184G>C, XM_005248461.2:c.184G>A, XM_005248461.1:c.184G>C, XM_005248461.1:c.184G>A, XM_005248463.5:c.79G>C, XM_005248463.5:c.79G>A, XM_005248463.4:c.79G>C, XM_005248463.4:c.79G>A, XM_005248463.3:c.79G>C, XM_005248463.3:c.79G>A, XM_005248463.2:c.79G>C, XM_005248463.2:c.79G>A, XM_005248463.1:c.79G>C, XM_005248463.1:c.79G>A, XM_011543255.4:c.454G>C, XM_011543255.4:c.454G>A, XM_011543255.3:c.454G>C, XM_011543255.3:c.454G>A, XM_011543255.2:c.454G>C, XM_011543255.2:c.454G>A, XM_011543255.1:c.454G>C, XM_011543255.1:c.454G>A, XM_011543256.4:c.454G>C, XM_011543256.4:c.454G>A, XM_011543256.3:c.454G>C, XM_011543256.3:c.454G>A, XM_011543256.2:c.454G>C, XM_011543256.2:c.454G>A, XM_011543256.1:c.454G>C, XM_011543256.1:c.454G>A, XM_017009206.3:c.451G>C, XM_017009206.3:c.451G>A, XM_017009206.2:c.451G>C, XM_017009206.2:c.451G>A, XM_017009206.1:c.451G>C, XM_017009206.1:c.451G>A, XM_011543259.3:c.454G>C, XM_011543259.3:c.454G>A, XM_011543259.2:c.454G>C, XM_011543259.2:c.454G>A, XM_011543259.1:c.454G>C, XM_011543259.1:c.454G>A, XM_011543258.3:c.454G>C, XM_011543258.3:c.454G>A, XM_011543258.2:c.454G>C, XM_011543258.2:c.454G>A, XM_011543258.1:c.454G>C, XM_011543258.1:c.454G>A, XM_011543260.3:c.454G>C, XM_011543260.3:c.454G>A, XM_011543260.2:c.454G>C, XM_011543260.2:c.454G>A, XM_011543260.1:c.454G>C, XM_011543260.1:c.454G>A, XM_024454396.2:c.451G>C, XM_024454396.2:c.451G>A, XM_024454396.1:c.451G>C, XM_024454396.1:c.451G>A, NM_001297697.2:c.79G>C, NM_001297697.2:c.79G>A, NM_001297697.1:c.79G>C, NM_001297697.1:c.79G>A, NM_001297696.2:c.451G>C, NM_001297696.2:c.451G>A, NM_001297696.1:c.451G>C, NM_001297696.1:c.451G>A, XM_017009207.2:c.454G>C, XM_017009207.2:c.454G>A, XM_017009207.1:c.454G>C, XM_017009207.1:c.454G>A, XM_047416903.1:c.235G>C, XM_047416903.1:c.235G>A, XM_047416905.1:c.235G>C, XM_047416905.1:c.235G>A, XM_047416893.1:c.454G>C, XM_047416893.1:c.454G>A, XM_047416895.1:c.451G>C, XM_047416895.1:c.451G>A, XM_047416902.1:c.235G>C, XM_047416902.1:c.235G>A, XM_047416906.1:c.235G>C, XM_047416906.1:c.235G>A, XM_047416896.1:c.454G>C, XM_047416896.1:c.454G>A, XM_047416897.1:c.451G>C, XM_047416897.1:c.451G>A, XM_047416904.1:c.223G>C, XM_047416904.1:c.223G>A, XM_047416907.1:c.223G>C, XM_047416907.1:c.223G>A, XM_047416898.1:c.451G>C, XM_047416898.1:c.451G>A, XM_047416900.1:c.451G>C, XM_047416900.1:c.451G>A, XM_047416899.1:c.451G>C, XM_047416899.1:c.451G>A, XM_047416901.1:c.451G>C, XM_047416901.1:c.451G>A, XM_047416908.1:c.235G>C, XM_047416908.1:c.235G>A, XM_047416894.1:c.451G>C, XM_047416894.1:c.451G>A, XP_005248516.1:p.Ala151Pro, XP_005248516.1:p.Ala151Thr, XP_005248515.1:p.Ala152Pro, XP_005248515.1:p.Ala152Thr, NP_789786.2:p.Ala152Pro, NP_789786.2:p.Ala152Thr, XP_006714633.1:p.Ala75Pro, XP_006714633.1:p.Ala75Thr, XP_005248518.1:p.Ala62Pro, XP_005248518.1:p.Ala62Thr, XP_005248520.1:p.Ala27Pro, XP_005248520.1:p.Ala27Thr, XP_011541557.1:p.Ala152Pro, XP_011541557.1:p.Ala152Thr, XP_011541558.1:p.Ala152Pro, XP_011541558.1:p.Ala152Thr, XP_016864695.1:p.Ala151Pro, XP_016864695.1:p.Ala151Thr, XP_011541561.1:p.Ala152Pro, XP_011541561.1:p.Ala152Thr, XP_011541560.1:p.Ala152Pro, XP_011541560.1:p.Ala152Thr, XP_011541562.1:p.Ala152Pro, XP_011541562.1:p.Ala152Thr, XP_024310164.1:p.Ala151Pro, XP_024310164.1:p.Ala151Thr, NP_001284626.1:p.Ala27Pro, NP_001284626.1:p.Ala27Thr, NP_001284625.1:p.Ala151Pro, NP_001284625.1:p.Ala151Thr, XP_016864696.1:p.Ala152Pro, XP_016864696.1:p.Ala152Thr, XP_047272859.1:p.Ala79Pro, XP_047272859.1:p.Ala79Thr, XP_047272861.1:p.Ala79Pro, XP_047272861.1:p.Ala79Thr, XP_047272849.1:p.Ala152Pro, XP_047272849.1:p.Ala152Thr, XP_047272851.1:p.Ala151Pro, XP_047272851.1:p.Ala151Thr, XP_047272858.1:p.Ala79Pro, XP_047272858.1:p.Ala79Thr, XP_047272862.1:p.Ala79Pro, XP_047272862.1:p.Ala79Thr, XP_047272852.1:p.Ala152Pro, XP_047272852.1:p.Ala152Thr, XP_047272853.1:p.Ala151Pro, XP_047272853.1:p.Ala151Thr, XP_047272860.1:p.Ala75Pro, XP_047272860.1:p.Ala75Thr, XP_047272863.1:p.Ala75Pro, XP_047272863.1:p.Ala75Thr, XP_047272854.1:p.Ala151Pro, XP_047272854.1:p.Ala151Thr, XP_047272856.1:p.Ala151Pro, XP_047272856.1:p.Ala151Thr, XP_047272855.1:p.Ala151Pro, XP_047272855.1:p.Ala151Thr, XP_047272857.1:p.Ala151Pro, XP_047272857.1:p.Ala151Thr, XP_047272864.1:p.Ala79Pro, XP_047272864.1:p.Ala79Thr, XP_047272850.1:p.Ala151Pro, XP_047272850.1:p.Ala151Thr

                                  17.

                                  rs1450593537 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    5:69282772 (GRCh38)
                                    5:68578599 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:69282771:G:A
                                    Gene:
                                    CCDC125 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000005.10:g.69282772G>A, NC_000005.9:g.68578599G>A, NW_003315917.2:g.65948G>A, XM_005248459.6:c.1490C>T, XM_005248459.5:c.1490C>T, XM_005248459.4:c.1490C>T, XM_005248459.3:c.1490C>T, XM_005248459.2:c.1490C>T, XM_005248459.1:c.1490C>T, XM_005248458.6:c.1493C>T, XM_005248458.5:c.1493C>T, XM_005248458.4:c.1493C>T, XM_005248458.3:c.1493C>T, XM_005248458.2:c.1493C>T, XM_005248458.1:c.1493C>T, NM_176816.5:c.1493C>T, NM_176816.4:c.1493C>T, NM_176816.3:c.1493C>T, XM_006714570.5:c.1262C>T, XM_006714570.4:c.1262C>T, XM_006714570.3:c.1262C>T, XM_006714570.2:c.1262C>T, XM_006714570.1:c.1262C>T, XM_005248461.5:c.1223C>T, XM_005248461.4:c.1223C>T, XM_005248461.3:c.1223C>T, XM_005248461.2:c.1223C>T, XM_005248461.1:c.1223C>T, XM_005248463.5:c.1118C>T, XM_005248463.4:c.1118C>T, XM_005248463.3:c.1118C>T, XM_005248463.2:c.1118C>T, XM_005248463.1:c.1118C>T, XM_011543255.4:c.1493C>T, XM_011543255.3:c.1493C>T, XM_011543255.2:c.1493C>T, XM_011543255.1:c.1493C>T, XM_011543256.4:c.1493C>T, XM_011543256.3:c.1493C>T, XM_011543256.2:c.1493C>T, XM_011543256.1:c.1493C>T, XM_017009211.3:c.800C>T, XM_017009211.2:c.800C>T, XM_017009211.1:c.800C>T, XM_024454396.2:c.1490C>T, XM_024454396.1:c.1490C>T, NM_001297697.2:c.1118C>T, NM_001297697.1:c.1118C>T, NM_001297696.2:c.*268C>T, NM_001297696.1:c.*268C>T, XM_017009206.3:c.1490C>T, XM_017009206.2:c.1490C>T, XM_017009206.1:c.1490C>T, XM_047416894.1:c.1475C>T, XM_047416903.1:c.1274C>T, XM_047416905.1:c.1259C>T, XM_047416893.1:c.1478C>T, XM_047416895.1:c.1475C>T, XM_047416902.1:c.1274C>T, XM_047416906.1:c.1259C>T, XM_047416896.1:c.1385C>T, XM_047416897.1:c.1382C>T, XM_047416904.1:c.1262C>T, XM_047416907.1:c.1247C>T, XP_005248516.1:p.Thr497Ile, XP_005248515.1:p.Thr498Ile, NP_789786.2:p.Thr498Ile, XP_006714633.1:p.Thr421Ile, XP_005248518.1:p.Thr408Ile, XP_005248520.1:p.Thr373Ile, XP_011541557.1:p.Thr498Ile, XP_011541558.1:p.Thr498Ile, XP_016864700.1:p.Thr267Ile, XP_024310164.1:p.Thr497Ile, NP_001284626.1:p.Thr373Ile, XP_016864695.1:p.Thr497Ile, XP_047272850.1:p.Thr492Ile, XP_047272859.1:p.Thr425Ile, XP_047272861.1:p.Thr420Ile, XP_047272849.1:p.Thr493Ile, XP_047272851.1:p.Thr492Ile, XP_047272858.1:p.Thr425Ile, XP_047272862.1:p.Thr420Ile, XP_047272852.1:p.Thr462Ile, XP_047272853.1:p.Thr461Ile, XP_047272860.1:p.Thr421Ile, XP_047272863.1:p.Thr416Ile

                                    18.

                                    rs1446139228 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->G [Show Flanks]
                                      Chromosome:
                                      5:69283033 (GRCh38)
                                      5:68578861 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:69283033:G:GG
                                      Gene:
                                      CCDC125 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      GG=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000005.10:g.69283034dup, NC_000005.9:g.68578861dup, NW_003315917.2:g.66210dup, XM_005248459.6:c.1228dup, XM_005248459.5:c.1228dup, XM_005248459.4:c.1228dup, XM_005248459.3:c.1228dup, XM_005248459.2:c.1228dup, XM_005248459.1:c.1228dup, XM_005248458.6:c.1231dup, XM_005248458.5:c.1231dup, XM_005248458.4:c.1231dup, XM_005248458.3:c.1231dup, XM_005248458.2:c.1231dup, XM_005248458.1:c.1231dup, NM_176816.5:c.1231dup, NM_176816.4:c.1231dup, NM_176816.3:c.1231dup, XM_006714570.5:c.1000dup, XM_006714570.4:c.1000dup, XM_006714570.3:c.1000dup, XM_006714570.2:c.1000dup, XM_006714570.1:c.1000dup, XM_005248461.5:c.961dup, XM_005248461.4:c.961dup, XM_005248461.3:c.961dup, XM_005248461.2:c.961dup, XM_005248461.1:c.961dup, XM_005248463.5:c.856dup, XM_005248463.4:c.856dup, XM_005248463.3:c.856dup, XM_005248463.2:c.856dup, XM_005248463.1:c.856dup, XM_011543255.4:c.1231dup, XM_011543255.3:c.1231dup, XM_011543255.2:c.1231dup, XM_011543255.1:c.1231dup, XM_011543256.4:c.1231dup, XM_011543256.3:c.1231dup, XM_011543256.2:c.1231dup, XM_011543256.1:c.1231dup, XM_017009206.3:c.1228dup, XM_017009206.2:c.1228dup, XM_017009206.1:c.1228dup, XM_017009211.3:c.538dup, XM_017009211.2:c.538dup, XM_017009211.1:c.538dup, XM_011543259.3:c.1231dup, XM_011543259.2:c.1231dup, XM_011543259.1:c.1231dup, XM_011543258.3:c.1231dup, XM_011543258.2:c.1231dup, XM_011543258.1:c.1231dup, XM_024454396.2:c.1228dup, XM_024454396.1:c.1228dup, NM_001297697.2:c.856dup, NM_001297697.1:c.856dup, NM_001297696.2:c.*6dup, NM_001297696.1:c.*6dup, XM_017009207.2:c.1216dup, XM_017009207.1:c.1216dup, XM_047416903.1:c.1012dup, XM_047416905.1:c.997dup, XM_047416893.1:c.1216dup, XM_047416895.1:c.1213dup, XM_047416902.1:c.1012dup, XM_047416906.1:c.997dup, XM_047416896.1:c.1123dup, XM_047416897.1:c.1120dup, XM_047416904.1:c.1000dup, XM_047416907.1:c.985dup, XM_047416898.1:c.1228dup, XM_047416900.1:c.1213dup, XM_047416899.1:c.1228dup, XM_047416901.1:c.1213dup, XM_047416908.1:c.1012dup, XM_047416894.1:c.1213dup, XP_005248516.1:p.Leu410fs, XP_005248515.1:p.Leu411fs, NP_789786.2:p.Leu411fs, XP_006714633.1:p.Leu334fs, XP_005248518.1:p.Leu321fs, XP_005248520.1:p.Leu286fs, XP_011541557.1:p.Leu411fs, XP_011541558.1:p.Leu411fs, XP_016864695.1:p.Leu410fs, XP_016864700.1:p.Leu180fs, XP_011541561.1:p.Leu411fs, XP_011541560.1:p.Leu411fs, XP_024310164.1:p.Leu410fs, NP_001284626.1:p.Leu286fs, XP_016864696.1:p.Leu406fs, XP_047272859.1:p.Leu338fs, XP_047272861.1:p.Leu333fs, XP_047272849.1:p.Leu406fs, XP_047272851.1:p.Leu405fs, XP_047272858.1:p.Leu338fs, XP_047272862.1:p.Leu333fs, XP_047272852.1:p.Leu375fs, XP_047272853.1:p.Leu374fs, XP_047272860.1:p.Leu334fs, XP_047272863.1:p.Leu329fs, XP_047272854.1:p.Leu410fs, XP_047272856.1:p.Leu405fs, XP_047272855.1:p.Leu410fs, XP_047272857.1:p.Leu405fs, XP_047272864.1:p.Leu338fs, XP_047272850.1:p.Leu405fs

                                      19.

                                      rs1443202900 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:69307974 (GRCh38)
                                        5:68603801 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:69307973:C:T
                                        Gene:
                                        CCDC125 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000005.10:g.69307974C>T, NC_000005.9:g.68603801C>T, NW_003315917.2:g.91138C>T, XM_005248459.6:c.505G>A, XM_005248459.5:c.505G>A, XM_005248459.4:c.505G>A, XM_005248459.3:c.505G>A, XM_005248459.2:c.505G>A, XM_005248459.1:c.505G>A, XM_005248458.6:c.508G>A, XM_005248458.5:c.508G>A, XM_005248458.4:c.508G>A, XM_005248458.3:c.508G>A, XM_005248458.2:c.508G>A, XM_005248458.1:c.508G>A, NM_176816.5:c.508G>A, NM_176816.4:c.508G>A, NM_176816.3:c.508G>A, XM_006714570.5:c.277G>A, XM_006714570.4:c.277G>A, XM_006714570.3:c.277G>A, XM_006714570.2:c.277G>A, XM_006714570.1:c.277G>A, XM_005248461.5:c.238G>A, XM_005248461.4:c.238G>A, XM_005248461.3:c.238G>A, XM_005248461.2:c.238G>A, XM_005248461.1:c.238G>A, XM_005248463.5:c.133G>A, XM_005248463.4:c.133G>A, XM_005248463.3:c.133G>A, XM_005248463.2:c.133G>A, XM_005248463.1:c.133G>A, XM_011543255.4:c.508G>A, XM_011543255.3:c.508G>A, XM_011543255.2:c.508G>A, XM_011543255.1:c.508G>A, XM_011543256.4:c.508G>A, XM_011543256.3:c.508G>A, XM_011543256.2:c.508G>A, XM_011543256.1:c.508G>A, XM_017009206.3:c.505G>A, XM_017009206.2:c.505G>A, XM_017009206.1:c.505G>A, XM_011543259.3:c.508G>A, XM_011543259.2:c.508G>A, XM_011543259.1:c.508G>A, XM_011543258.3:c.508G>A, XM_011543258.2:c.508G>A, XM_011543258.1:c.508G>A, XM_011543260.3:c.508G>A, XM_011543260.2:c.508G>A, XM_011543260.1:c.508G>A, XM_024454396.2:c.505G>A, XM_024454396.1:c.505G>A, NM_001297697.2:c.133G>A, NM_001297697.1:c.133G>A, NM_001297696.2:c.505G>A, NM_001297696.1:c.505G>A, XM_017009207.2:c.508G>A, XM_017009207.1:c.508G>A, XM_047416903.1:c.289G>A, XM_047416905.1:c.289G>A, XM_047416893.1:c.508G>A, XM_047416895.1:c.505G>A, XM_047416902.1:c.289G>A, XM_047416906.1:c.289G>A, XM_047416896.1:c.508G>A, XM_047416897.1:c.505G>A, XM_047416904.1:c.277G>A, XM_047416907.1:c.277G>A, XM_047416898.1:c.505G>A, XM_047416900.1:c.505G>A, XM_047416899.1:c.505G>A, XM_047416901.1:c.505G>A, XM_047416908.1:c.289G>A, XM_047416894.1:c.505G>A, XP_005248516.1:p.Glu169Lys, XP_005248515.1:p.Glu170Lys, NP_789786.2:p.Glu170Lys, XP_006714633.1:p.Glu93Lys, XP_005248518.1:p.Glu80Lys, XP_005248520.1:p.Glu45Lys, XP_011541557.1:p.Glu170Lys, XP_011541558.1:p.Glu170Lys, XP_016864695.1:p.Glu169Lys, XP_011541561.1:p.Glu170Lys, XP_011541560.1:p.Glu170Lys, XP_011541562.1:p.Glu170Lys, XP_024310164.1:p.Glu169Lys, NP_001284626.1:p.Glu45Lys, NP_001284625.1:p.Glu169Lys, XP_016864696.1:p.Glu170Lys, XP_047272859.1:p.Glu97Lys, XP_047272861.1:p.Glu97Lys, XP_047272849.1:p.Glu170Lys, XP_047272851.1:p.Glu169Lys, XP_047272858.1:p.Glu97Lys, XP_047272862.1:p.Glu97Lys, XP_047272852.1:p.Glu170Lys, XP_047272853.1:p.Glu169Lys, XP_047272860.1:p.Glu93Lys, XP_047272863.1:p.Glu93Lys, XP_047272854.1:p.Glu169Lys, XP_047272856.1:p.Glu169Lys, XP_047272855.1:p.Glu169Lys, XP_047272857.1:p.Glu169Lys, XP_047272864.1:p.Glu97Lys, XP_047272850.1:p.Glu169Lys

                                        20.

                                        rs1436656099 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          5:69303916 (GRCh38)
                                          5:68599743 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:69303915:T:G
                                          Gene:
                                          CCDC125 (Varview)
                                          Functional Consequence:
                                          coding_sequence_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_000005.10:g.69303916T>G, NC_000005.9:g.68599743T>G, NW_003315917.2:g.87079T>G, XM_005248459.6:c.628A>C, XM_005248459.5:c.628A>C, XM_005248459.4:c.628A>C, XM_005248459.3:c.628A>C, XM_005248459.2:c.628A>C, XM_005248459.1:c.628A>C, XM_005248458.6:c.631A>C, XM_005248458.5:c.631A>C, XM_005248458.4:c.631A>C, XM_005248458.3:c.631A>C, XM_005248458.2:c.631A>C, XM_005248458.1:c.631A>C, NM_176816.5:c.631A>C, NM_176816.4:c.631A>C, NM_176816.3:c.631A>C, XM_006714570.5:c.400A>C, XM_006714570.4:c.400A>C, XM_006714570.3:c.400A>C, XM_006714570.2:c.400A>C, XM_006714570.1:c.400A>C, XM_005248461.5:c.361A>C, XM_005248461.4:c.361A>C, XM_005248461.3:c.361A>C, XM_005248461.2:c.361A>C, XM_005248461.1:c.361A>C, XM_005248463.5:c.256A>C, XM_005248463.4:c.256A>C, XM_005248463.3:c.256A>C, XM_005248463.2:c.256A>C, XM_005248463.1:c.256A>C, XM_011543255.4:c.631A>C, XM_011543255.3:c.631A>C, XM_011543255.2:c.631A>C, XM_011543255.1:c.631A>C, XM_011543256.4:c.631A>C, XM_011543256.3:c.631A>C, XM_011543256.2:c.631A>C, XM_011543256.1:c.631A>C, XM_017009206.3:c.628A>C, XM_017009206.2:c.628A>C, XM_017009206.1:c.628A>C, XM_011543259.3:c.631A>C, XM_011543259.2:c.631A>C, XM_011543259.1:c.631A>C, XM_011543258.3:c.631A>C, XM_011543258.2:c.631A>C, XM_011543258.1:c.631A>C, XM_011543260.3:c.631A>C, XM_011543260.2:c.631A>C, XM_011543260.1:c.631A>C, NM_001297697.2:c.256A>C, NM_001297697.1:c.256A>C, NM_001297696.2:c.628A>C, NM_001297696.1:c.628A>C, XM_017009207.2:c.631A>C, XM_017009207.1:c.631A>C, XM_047416894.1:c.628A>C, XM_047416903.1:c.412A>C, XM_047416905.1:c.412A>C, XM_047416893.1:c.631A>C, XM_047416895.1:c.628A>C, XM_047416902.1:c.412A>C, XM_047416906.1:c.412A>C, XM_047416896.1:c.631A>C, XM_047416897.1:c.628A>C, XM_047416904.1:c.400A>C, XM_047416907.1:c.400A>C, XM_047416898.1:c.628A>C, XM_047416900.1:c.628A>C, XM_047416899.1:c.628A>C, XM_047416908.1:c.412A>C, XM_024454396.2:c.628A>C, XM_024454396.1:c.628A>C, XM_047416901.1:c.628A>C, XP_005248516.1:p.Asn210His, XP_005248515.1:p.Asn211His, NP_789786.2:p.Asn211His, XP_006714633.1:p.Asn134His, XP_005248518.1:p.Asn121His, XP_005248520.1:p.Asn86His, XP_011541557.1:p.Asn211His, XP_011541558.1:p.Asn211His, XP_016864695.1:p.Asn210His, XP_011541561.1:p.Asn211His, XP_011541560.1:p.Asn211His, XP_011541562.1:p.Asn211His, NP_001284626.1:p.Asn86His, NP_001284625.1:p.Asn210His, XP_016864696.1:p.Asn211His, XP_047272850.1:p.Asn210His, XP_047272859.1:p.Asn138His, XP_047272861.1:p.Asn138His, XP_047272849.1:p.Asn211His, XP_047272851.1:p.Asn210His, XP_047272858.1:p.Asn138His, XP_047272862.1:p.Asn138His, XP_047272852.1:p.Asn211His, XP_047272853.1:p.Asn210His, XP_047272860.1:p.Asn134His, XP_047272863.1:p.Asn134His, XP_047272854.1:p.Asn210His, XP_047272856.1:p.Asn210His, XP_047272855.1:p.Asn210His, XP_047272864.1:p.Asn138His, XP_024310164.1:p.Asn210His, XP_047272857.1:p.Asn210His

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