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Items: 1 to 20 of 956

1.

rs1490712332 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    12:81281295 (GRCh38)
    12:81675074 (GRCh37)
    Canonical SPDI:
    NC_000012.12:81281294:A:G
    Gene:
    PPFIA2 (Varview), PPFIA2-AS1 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    HGVS:
    NC_000012.12:g.81281295A>G, NC_000012.11:g.81675074A>G, NM_003625.5:c.3174T>C, NM_003625.4:c.3174T>C, NM_003625.3:c.3174T>C, NM_001220473.3:c.3174T>C, NM_001220473.2:c.3174T>C, NM_001220473.1:c.3174T>C, NM_001220474.3:c.3129T>C, NM_001220474.2:c.3129T>C, NM_001220474.1:c.3129T>C, XM_017020103.3:c.3111T>C, XM_017020103.2:c.3111T>C, XM_017020103.1:c.3111T>C, XM_017020090.3:c.3156T>C, XM_017020090.2:c.3156T>C, XM_017020090.1:c.3156T>C, XM_017020107.3:c.3093T>C, XM_017020107.2:c.3093T>C, XM_017020107.1:c.3093T>C, XM_017020108.3:c.3090T>C, XM_017020108.2:c.3090T>C, XM_017020108.1:c.3090T>C, NM_001220480.3:c.732T>C, NM_001220480.2:c.732T>C, NM_001220480.1:c.732T>C, NM_001220479.3:c.1782T>C, NM_001220479.2:c.1782T>C, NM_001220479.1:c.1782T>C, XM_017020094.3:c.3108T>C, XM_017020094.2:c.3108T>C, XM_017020094.1:c.3108T>C, XM_017020099.2:c.3120T>C, XM_017020099.1:c.3120T>C, NM_001220476.2:c.3156T>C, NM_001220476.1:c.3156T>C, XM_017020105.2:c.3099T>C, XM_017020105.1:c.3099T>C, XM_017020086.2:c.3174T>C, XM_017020086.1:c.3174T>C, XM_024449240.2:c.3144T>C, XM_024449240.1:c.3144T>C, NM_001220475.2:c.3111T>C, NM_001220475.1:c.3111T>C, NM_001220477.2:c.2871T>C, NM_001220477.1:c.2871T>C, NM_001220478.2:c.2859T>C, NM_001220478.1:c.2859T>C, XM_024449242.2:c.3081T>C, XM_024449242.1:c.3081T>C, XM_017020118.2:c.2883T>C, XM_017020118.1:c.2883T>C, XM_017020088.2:c.3129T>C, XM_017020088.1:c.3129T>C, XM_024449241.2:c.3063T>C, XM_024449241.1:c.3063T>C, XM_024449245.2:c.1959T>C, XM_024449245.1:c.1959T>C, XM_047429792.1:c.2901T>C, XM_047429775.1:c.3183T>C, XM_047429778.1:c.3165T>C, XM_047429781.1:c.3153T>C, XM_047429791.1:c.3063T>C, XM_047429786.1:c.3120T>C, NM_001282536.1:c.2715T>C, NR_038265.1:n.2979T>C, XM_047429771.1:c.3183T>C, XM_047429772.1:c.3174T>C, XM_047429780.1:c.3129T>C, XM_047429770.1:c.3183T>C, XM_047429795.1:c.3102T>C, XM_047429773.1:c.3165T>C, XM_047429774.1:c.3156T>C, XM_047429776.1:c.3153T>C, XM_047429777.1:c.3144T>C, XM_047429782.1:c.3120T>C, XM_047429783.1:c.3111T>C, XM_047429784.1:c.3102T>C, XM_047429785.1:c.3099T>C, XM_047429787.1:c.3090T>C, XM_047429796.1:c.3009T>C, XM_047429789.1:c.3081T>C, XM_047429788.1:c.3081T>C, XM_047429790.1:c.3072T>C, XM_047429793.1:c.2901T>C, XM_047429794.1:c.2724T>C

    2.

    rs1489073725 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:81294904 (GRCh38)
      12:81688683 (GRCh37)
      Canonical SPDI:
      NC_000012.12:81294903:T:C
      Gene:
      PPFIA2 (Varview), PPFIA2-AS1 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      C=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.81294904T>C, NC_000012.11:g.81688683T>C, NM_003625.5:c.2856A>G, NM_003625.4:c.2856A>G, NM_003625.3:c.2856A>G, NM_001220473.3:c.2856A>G, NM_001220473.2:c.2856A>G, NM_001220473.1:c.2856A>G, NM_001220474.3:c.2811A>G, NM_001220474.2:c.2811A>G, NM_001220474.1:c.2811A>G, XM_017020103.3:c.2856A>G, XM_017020103.2:c.2856A>G, XM_017020103.1:c.2856A>G, XM_017020090.3:c.2856A>G, XM_017020090.2:c.2856A>G, XM_017020090.1:c.2856A>G, XM_017020107.3:c.2856A>G, XM_017020107.2:c.2856A>G, XM_017020107.1:c.2856A>G, XM_017020108.3:c.2865A>G, XM_017020108.2:c.2865A>G, XM_017020108.1:c.2865A>G, NM_001220480.3:c.507A>G, NM_001220480.2:c.507A>G, NM_001220480.1:c.507A>G, NM_001220479.3:c.1557A>G, NM_001220479.2:c.1557A>G, NM_001220479.1:c.1557A>G, XM_017020094.3:c.2790A>G, XM_017020094.2:c.2790A>G, XM_017020094.1:c.2790A>G, XM_017020099.2:c.2802A>G, XM_017020099.1:c.2802A>G, NM_001220476.2:c.2856A>G, NM_001220476.1:c.2856A>G, XM_017020105.2:c.2781A>G, XM_017020105.1:c.2781A>G, XM_017020086.2:c.2856A>G, XM_017020086.1:c.2856A>G, XM_024449240.2:c.2856A>G, XM_024449240.1:c.2856A>G, NM_001220475.2:c.2856A>G, NM_001220475.1:c.2856A>G, NM_001220477.2:c.2634A>G, NM_001220477.1:c.2634A>G, NM_001220478.2:c.2559A>G, NM_001220478.1:c.2559A>G, XM_024449242.2:c.2856A>G, XM_024449242.1:c.2856A>G, XM_017020118.2:c.2565A>G, XM_017020118.1:c.2565A>G, XM_017020088.2:c.2811A>G, XM_017020088.1:c.2811A>G, XM_024449241.2:c.2856A>G, XM_024449241.1:c.2856A>G, XM_024449245.2:c.1641A>G, XM_024449245.1:c.1641A>G, XM_047429792.1:c.2583A>G, XM_047429775.1:c.2865A>G, XM_047429778.1:c.2865A>G, XM_047429781.1:c.2865A>G, XM_047429791.1:c.2856A>G, XM_047429786.1:c.2865A>G, NM_001282536.1:c.2397A>G, NR_038265.1:n.2661A>G, XM_047429771.1:c.2865A>G, XM_047429772.1:c.2856A>G, XM_047429780.1:c.2811A>G, XM_047429770.1:c.2865A>G, XM_047429795.1:c.2802A>G, XM_047429773.1:c.2865A>G, XM_047429774.1:c.2856A>G, XM_047429776.1:c.2865A>G, XM_047429777.1:c.2856A>G, XM_047429782.1:c.2865A>G, XM_047429783.1:c.2856A>G, XM_047429784.1:c.2865A>G, XM_047429785.1:c.2781A>G, XM_047429787.1:c.2865A>G, XM_047429796.1:c.2802A>G, XM_047429789.1:c.2856A>G, XM_047429788.1:c.2781A>G, XM_047429790.1:c.2865A>G, XM_047429793.1:c.2583A>G, XM_047429794.1:c.2406A>G

      3.

      rs1487881054 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        12:81754105 (GRCh38)
        12:82147884 (GRCh37)
        Canonical SPDI:
        NC_000012.12:81754104:T:C,NC_000012.12:81754104:T:G
        Gene:
        PPFIA2 (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 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.81754105T>C, NC_000012.12:g.81754105T>G, NC_000012.11:g.82147884T>C, NC_000012.11:g.82147884T>G, NM_003625.5:c.117A>G, NM_003625.5:c.117A>C, NM_003625.4:c.117A>G, NM_003625.4:c.117A>C, NM_003625.3:c.117A>G, NM_003625.3:c.117A>C, NM_001220473.3:c.117A>G, NM_001220473.3:c.117A>C, NM_001220473.2:c.117A>G, NM_001220473.2:c.117A>C, NM_001220473.1:c.117A>G, NM_001220473.1:c.117A>C, NM_001220474.3:c.117A>G, NM_001220474.3:c.117A>C, NM_001220474.2:c.117A>G, NM_001220474.2:c.117A>C, NM_001220474.1:c.117A>G, NM_001220474.1:c.117A>C, XM_017020103.3:c.117A>G, XM_017020103.3:c.117A>C, XM_017020103.2:c.117A>G, XM_017020103.2:c.117A>C, XM_017020103.1:c.117A>G, XM_017020103.1:c.117A>C, XM_017020090.3:c.117A>G, XM_017020090.3:c.117A>C, XM_017020090.2:c.117A>G, XM_017020090.2:c.117A>C, XM_017020090.1:c.117A>G, XM_017020090.1:c.117A>C, XM_017020107.3:c.117A>G, XM_017020107.3:c.117A>C, XM_017020107.2:c.117A>G, XM_017020107.2:c.117A>C, XM_017020107.1:c.117A>G, XM_017020107.1:c.117A>C, XM_017020108.3:c.117A>G, XM_017020108.3:c.117A>C, XM_017020108.2:c.117A>G, XM_017020108.2:c.117A>C, XM_017020108.1:c.117A>G, XM_017020108.1:c.117A>C, XM_017020094.3:c.117A>G, XM_017020094.3:c.117A>C, XM_017020094.2:c.117A>G, XM_017020094.2:c.117A>C, XM_017020094.1:c.117A>G, XM_017020094.1:c.117A>C, XM_024449244.2:c.117A>G, XM_024449244.2:c.117A>C, XM_024449244.1:c.117A>G, XM_024449244.1:c.117A>C, XM_017020099.2:c.117A>G, XM_017020099.2:c.117A>C, XM_017020099.1:c.117A>G, XM_017020099.1:c.117A>C, NM_001220476.2:c.117A>G, NM_001220476.2:c.117A>C, NM_001220476.1:c.117A>G, NM_001220476.1:c.117A>C, XM_017020105.2:c.117A>G, XM_017020105.2:c.117A>C, XM_017020105.1:c.117A>G, XM_017020105.1:c.117A>C, XM_017020086.2:c.117A>G, XM_017020086.2:c.117A>C, XM_017020086.1:c.117A>G, XM_017020086.1:c.117A>C, XM_024449240.2:c.117A>G, XM_024449240.2:c.117A>C, XM_024449240.1:c.117A>G, XM_024449240.1:c.117A>C, NM_001220475.2:c.117A>G, NM_001220475.2:c.117A>C, NM_001220475.1:c.117A>G, NM_001220475.1:c.117A>C, XM_024449242.2:c.117A>G, XM_024449242.2:c.117A>C, XM_024449242.1:c.117A>G, XM_024449242.1:c.117A>C, XM_017020088.2:c.117A>G, XM_017020088.2:c.117A>C, XM_017020088.1:c.117A>G, XM_017020088.1:c.117A>C, XM_024449241.2:c.117A>G, XM_024449241.2:c.117A>C, XM_024449241.1:c.117A>G, XM_024449241.1:c.117A>C, XM_047429775.1:c.117A>G, XM_047429775.1:c.117A>C, XM_047429778.1:c.117A>G, XM_047429778.1:c.117A>C, XM_047429781.1:c.117A>G, XM_047429781.1:c.117A>C, XM_047429791.1:c.117A>G, XM_047429791.1:c.117A>C, XM_047429786.1:c.117A>G, XM_047429786.1:c.117A>C, XM_047429771.1:c.117A>G, XM_047429771.1:c.117A>C, XM_047429772.1:c.117A>G, XM_047429772.1:c.117A>C, XM_047429780.1:c.117A>G, XM_047429780.1:c.117A>C, XM_047429770.1:c.117A>G, XM_047429770.1:c.117A>C, XM_047429795.1:c.117A>G, XM_047429795.1:c.117A>C, XM_047429773.1:c.117A>G, XM_047429773.1:c.117A>C, XM_047429774.1:c.117A>G, XM_047429774.1:c.117A>C, XM_047429776.1:c.117A>G, XM_047429776.1:c.117A>C, XM_047429777.1:c.117A>G, XM_047429777.1:c.117A>C, XM_047429782.1:c.117A>G, XM_047429782.1:c.117A>C, XM_047429783.1:c.117A>G, XM_047429783.1:c.117A>C, XM_047429784.1:c.117A>G, XM_047429784.1:c.117A>C, XM_047429785.1:c.117A>G, XM_047429785.1:c.117A>C, XM_047429787.1:c.117A>G, XM_047429787.1:c.117A>C, XM_047429796.1:c.117A>G, XM_047429796.1:c.117A>C, XM_047429789.1:c.117A>G, XM_047429789.1:c.117A>C, XM_047429788.1:c.117A>G, XM_047429788.1:c.117A>C, XM_047429790.1:c.117A>G, XM_047429790.1:c.117A>C

        4.

        rs1487344733 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:81281362 (GRCh38)
          12:81675141 (GRCh37)
          Canonical SPDI:
          NC_000012.12:81281361:T:C
          Gene:
          PPFIA2 (Varview), PPFIA2-AS1 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.81281362T>C, NC_000012.11:g.81675141T>C, NM_003625.5:c.3107A>G, NM_003625.4:c.3107A>G, NM_003625.3:c.3107A>G, NM_001220473.3:c.3107A>G, NM_001220473.2:c.3107A>G, NM_001220473.1:c.3107A>G, NM_001220474.3:c.3062A>G, NM_001220474.2:c.3062A>G, NM_001220474.1:c.3062A>G, XM_017020103.3:c.3044A>G, XM_017020103.2:c.3044A>G, XM_017020103.1:c.3044A>G, XM_017020090.3:c.3089A>G, XM_017020090.2:c.3089A>G, XM_017020090.1:c.3089A>G, XM_017020107.3:c.3026A>G, XM_017020107.2:c.3026A>G, XM_017020107.1:c.3026A>G, XM_017020108.3:c.3023A>G, XM_017020108.2:c.3023A>G, XM_017020108.1:c.3023A>G, NM_001220480.3:c.665A>G, NM_001220480.2:c.665A>G, NM_001220480.1:c.665A>G, NM_001220479.3:c.1715A>G, NM_001220479.2:c.1715A>G, NM_001220479.1:c.1715A>G, XM_017020094.3:c.3041A>G, XM_017020094.2:c.3041A>G, XM_017020094.1:c.3041A>G, XM_017020099.2:c.3053A>G, XM_017020099.1:c.3053A>G, NM_001220476.2:c.3089A>G, NM_001220476.1:c.3089A>G, XM_017020105.2:c.3032A>G, XM_017020105.1:c.3032A>G, XM_017020086.2:c.3107A>G, XM_017020086.1:c.3107A>G, XM_024449240.2:c.3077A>G, XM_024449240.1:c.3077A>G, NM_001220475.2:c.3044A>G, NM_001220475.1:c.3044A>G, NM_001220477.2:c.2804A>G, NM_001220477.1:c.2804A>G, NM_001220478.2:c.2792A>G, NM_001220478.1:c.2792A>G, XM_024449242.2:c.3014A>G, XM_024449242.1:c.3014A>G, XM_017020118.2:c.2816A>G, XM_017020118.1:c.2816A>G, XM_017020088.2:c.3062A>G, XM_017020088.1:c.3062A>G, XM_024449241.2:c.2996A>G, XM_024449241.1:c.2996A>G, XM_024449245.2:c.1892A>G, XM_024449245.1:c.1892A>G, XM_047429792.1:c.2834A>G, XM_047429775.1:c.3116A>G, XM_047429778.1:c.3098A>G, XM_047429781.1:c.3086A>G, XM_047429791.1:c.2996A>G, XM_047429786.1:c.3053A>G, NM_001282536.1:c.2648A>G, NR_038265.1:n.2912A>G, XM_047429771.1:c.3116A>G, XM_047429772.1:c.3107A>G, XM_047429780.1:c.3062A>G, XM_047429770.1:c.3116A>G, XM_047429795.1:c.3035A>G, XM_047429773.1:c.3098A>G, XM_047429774.1:c.3089A>G, XM_047429776.1:c.3086A>G, XM_047429777.1:c.3077A>G, XM_047429782.1:c.3053A>G, XM_047429783.1:c.3044A>G, XM_047429784.1:c.3035A>G, XM_047429785.1:c.3032A>G, XM_047429787.1:c.3023A>G, XM_047429796.1:c.2942A>G, XM_047429789.1:c.3014A>G, XM_047429788.1:c.3014A>G, XM_047429790.1:c.3005A>G, XM_047429793.1:c.2834A>G, XM_047429794.1:c.2657A>G, NP_003616.2:p.Gln1036Arg, NP_001207402.1:p.Gln1036Arg, NP_001207403.1:p.Gln1021Arg, XP_016875592.1:p.Gln1015Arg, XP_016875579.1:p.Gln1030Arg, XP_016875596.1:p.Gln1009Arg, XP_016875597.1:p.Gln1008Arg, NP_001207409.1:p.Gln222Arg, NP_001207408.1:p.Gln572Arg, XP_016875583.1:p.Gln1014Arg, XP_016875588.1:p.Gln1018Arg, NP_001207405.1:p.Gln1030Arg, XP_016875594.1:p.Gln1011Arg, XP_016875575.1:p.Gln1036Arg, XP_024305008.1:p.Gln1026Arg, NP_001207404.1:p.Gln1015Arg, NP_001207406.1:p.Gln935Arg, NP_001207407.1:p.Gln931Arg, XP_024305010.1:p.Gln1005Arg, XP_016875607.1:p.Gln939Arg, XP_016875577.1:p.Gln1021Arg, XP_024305009.1:p.Gln999Arg, XP_024305013.1:p.Gln631Arg, XP_047285748.1:p.Gln945Arg, XP_047285731.1:p.Gln1039Arg, XP_047285734.1:p.Gln1033Arg, XP_047285737.1:p.Gln1029Arg, XP_047285747.1:p.Gln999Arg, XP_047285742.1:p.Gln1018Arg, NP_001269465.1:p.Gln883Arg, XP_047285727.1:p.Gln1039Arg, XP_047285728.1:p.Gln1036Arg, XP_047285736.1:p.Gln1021Arg, XP_047285726.1:p.Gln1039Arg, XP_047285751.1:p.Gln1012Arg, XP_047285729.1:p.Gln1033Arg, XP_047285730.1:p.Gln1030Arg, XP_047285732.1:p.Gln1029Arg, XP_047285733.1:p.Gln1026Arg, XP_047285738.1:p.Gln1018Arg, XP_047285739.1:p.Gln1015Arg, XP_047285740.1:p.Gln1012Arg, XP_047285741.1:p.Gln1011Arg, XP_047285743.1:p.Gln1008Arg, XP_047285752.1:p.Gln981Arg, XP_047285745.1:p.Gln1005Arg, XP_047285744.1:p.Gln1005Arg, XP_047285746.1:p.Gln1002Arg, XP_047285749.1:p.Gln945Arg, XP_047285750.1:p.Gln886Arg

          5.

          rs1487050119 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:81362731 (GRCh38)
            12:81756510 (GRCh37)
            Canonical SPDI:
            NC_000012.12:81362730:T:C
            Gene:
            PPFIA2 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000012.12:g.81362731T>C, NC_000012.11:g.81756510T>C, NM_003625.5:c.1599A>G, NM_003625.4:c.1599A>G, NM_003625.3:c.1599A>G, NM_001220473.3:c.1599A>G, NM_001220473.2:c.1599A>G, NM_001220473.1:c.1599A>G, NM_001220474.3:c.1545A>G, NM_001220474.2:c.1545A>G, NM_001220474.1:c.1545A>G, XM_017020103.3:c.1599A>G, XM_017020103.2:c.1599A>G, XM_017020103.1:c.1599A>G, XM_017020090.3:c.1599A>G, XM_017020090.2:c.1599A>G, XM_017020090.1:c.1599A>G, XM_017020107.3:c.1599A>G, XM_017020107.2:c.1599A>G, XM_017020107.1:c.1599A>G, XM_017020108.3:c.1599A>G, XM_017020108.2:c.1599A>G, XM_017020108.1:c.1599A>G, NM_001220480.3:c.-620A>G, NM_001220480.2:c.-620A>G, NM_001220480.1:c.-620A>G, NM_001220479.3:c.300A>G, NM_001220479.2:c.300A>G, NM_001220479.1:c.300A>G, XM_017020094.3:c.1524A>G, XM_017020094.2:c.1524A>G, XM_017020094.1:c.1524A>G, XM_024449244.2:c.1599A>G, XM_024449244.1:c.1599A>G, XM_017020099.2:c.1545A>G, XM_017020099.1:c.1545A>G, NM_001220476.2:c.1599A>G, NM_001220476.1:c.1599A>G, XM_017020105.2:c.1524A>G, XM_017020105.1:c.1524A>G, XM_017020086.2:c.1599A>G, XM_017020086.1:c.1599A>G, XM_024449240.2:c.1599A>G, XM_024449240.1:c.1599A>G, NM_001220475.2:c.1599A>G, NM_001220475.1:c.1599A>G, NM_001220477.2:c.1377A>G, NM_001220477.1:c.1377A>G, NM_001220478.2:c.1302A>G, NM_001220478.1:c.1302A>G, XM_024449242.2:c.1599A>G, XM_024449242.1:c.1599A>G, XM_017020118.2:c.1299A>G, XM_017020118.1:c.1299A>G, XM_017020088.2:c.1545A>G, XM_017020088.1:c.1545A>G, XM_024449241.2:c.1599A>G, XM_024449241.1:c.1599A>G, XM_024449245.2:c.375A>G, XM_024449245.1:c.375A>G, XM_047429792.1:c.1317A>G, XM_047429775.1:c.1599A>G, XM_047429778.1:c.1599A>G, XM_047429781.1:c.1599A>G, XM_047429791.1:c.1599A>G, XM_047429786.1:c.1599A>G, NM_001282536.1:c.1140A>G, NR_038265.1:n.1404A>G, XM_047429771.1:c.1599A>G, XM_047429772.1:c.1599A>G, XM_047429780.1:c.1545A>G, XM_047429770.1:c.1599A>G, XM_047429795.1:c.1545A>G, XM_047429773.1:c.1599A>G, XM_047429774.1:c.1599A>G, XM_047429776.1:c.1599A>G, XM_047429777.1:c.1599A>G, XM_047429782.1:c.1599A>G, XM_047429783.1:c.1599A>G, XM_047429784.1:c.1599A>G, XM_047429785.1:c.1524A>G, XM_047429787.1:c.1599A>G, XM_047429796.1:c.1545A>G, XM_047429789.1:c.1599A>G, XM_047429788.1:c.1524A>G, XM_047429790.1:c.1599A>G, XM_047429793.1:c.1317A>G, XM_047429794.1:c.1140A>G

            6.

            rs1486811611 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              12:81347568 (GRCh38)
              12:81741347 (GRCh37)
              Canonical SPDI:
              NC_000012.12:81347567:C:T
              Gene:
              PPFIA2 (Varview), LOC105369872 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000012.12:g.81347568C>T, NC_000012.11:g.81741347C>T, NM_003625.5:c.2197G>A, NM_003625.4:c.2197G>A, NM_003625.3:c.2197G>A, NM_001220473.3:c.2197G>A, NM_001220473.2:c.2197G>A, NM_001220473.1:c.2197G>A, NM_001220474.3:c.2143G>A, NM_001220474.2:c.2143G>A, NM_001220474.1:c.2143G>A, XM_017020103.3:c.2197G>A, XM_017020103.2:c.2197G>A, XM_017020103.1:c.2197G>A, XM_017020090.3:c.2197G>A, XM_017020090.2:c.2197G>A, XM_017020090.1:c.2197G>A, XM_017020107.3:c.2197G>A, XM_017020107.2:c.2197G>A, XM_017020107.1:c.2197G>A, XM_017020108.3:c.2197G>A, XM_017020108.2:c.2197G>A, XM_017020108.1:c.2197G>A, NM_001220479.3:c.898G>A, NM_001220479.2:c.898G>A, NM_001220479.1:c.898G>A, XM_017020094.3:c.2122G>A, XM_017020094.2:c.2122G>A, XM_017020094.1:c.2122G>A, XM_024449244.2:c.2197G>A, XM_024449244.1:c.2197G>A, XM_017020099.2:c.2143G>A, XM_017020099.1:c.2143G>A, NM_001220476.2:c.2197G>A, NM_001220476.1:c.2197G>A, XM_017020105.2:c.2122G>A, XM_017020105.1:c.2122G>A, XM_017020086.2:c.2197G>A, XM_017020086.1:c.2197G>A, XM_024449240.2:c.2197G>A, XM_024449240.1:c.2197G>A, NM_001220475.2:c.2197G>A, NM_001220475.1:c.2197G>A, NM_001220477.2:c.1975G>A, NM_001220477.1:c.1975G>A, NM_001220478.2:c.1900G>A, NM_001220478.1:c.1900G>A, XM_024449242.2:c.2197G>A, XM_024449242.1:c.2197G>A, XM_017020118.2:c.1897G>A, XM_017020118.1:c.1897G>A, XM_017020088.2:c.2143G>A, XM_017020088.1:c.2143G>A, XM_024449241.2:c.2197G>A, XM_024449241.1:c.2197G>A, XM_024449245.2:c.973G>A, XM_024449245.1:c.973G>A, XM_047429792.1:c.1915G>A, XM_047429775.1:c.2197G>A, XM_047429778.1:c.2197G>A, XM_047429781.1:c.2197G>A, XM_047429791.1:c.2197G>A, XM_047429786.1:c.2197G>A, NM_001282536.1:c.1738G>A, NR_038265.1:n.2002G>A, XM_047429771.1:c.2197G>A, XM_047429772.1:c.2197G>A, XM_047429780.1:c.2143G>A, XM_047429770.1:c.2197G>A, XM_047429795.1:c.2143G>A, XM_047429773.1:c.2197G>A, XM_047429774.1:c.2197G>A, XM_047429776.1:c.2197G>A, XM_047429777.1:c.2197G>A, XM_047429782.1:c.2197G>A, XM_047429783.1:c.2197G>A, XM_047429784.1:c.2197G>A, XM_047429785.1:c.2122G>A, XM_047429787.1:c.2197G>A, XM_047429796.1:c.2143G>A, XM_047429789.1:c.2197G>A, XM_047429788.1:c.2122G>A, XM_047429790.1:c.2197G>A, XM_047429793.1:c.1915G>A, XM_047429794.1:c.1738G>A, NP_003616.2:p.Ala733Thr, NP_001207402.1:p.Ala733Thr, NP_001207403.1:p.Ala715Thr, XP_016875592.1:p.Ala733Thr, XP_016875579.1:p.Ala733Thr, XP_016875596.1:p.Ala733Thr, XP_016875597.1:p.Ala733Thr, NP_001207408.1:p.Ala300Thr, XP_016875583.1:p.Ala708Thr, XP_024305012.1:p.Ala733Thr, XP_016875588.1:p.Ala715Thr, NP_001207405.1:p.Ala733Thr, XP_016875594.1:p.Ala708Thr, XP_016875575.1:p.Ala733Thr, XP_024305008.1:p.Ala733Thr, NP_001207404.1:p.Ala733Thr, NP_001207406.1:p.Ala659Thr, NP_001207407.1:p.Ala634Thr, XP_024305010.1:p.Ala733Thr, XP_016875607.1:p.Ala633Thr, XP_016875577.1:p.Ala715Thr, XP_024305009.1:p.Ala733Thr, XP_024305013.1:p.Ala325Thr, XP_047285748.1:p.Ala639Thr, XP_047285731.1:p.Ala733Thr, XP_047285734.1:p.Ala733Thr, XP_047285737.1:p.Ala733Thr, XP_047285747.1:p.Ala733Thr, XP_047285742.1:p.Ala733Thr, NP_001269465.1:p.Ala580Thr, XP_047285727.1:p.Ala733Thr, XP_047285728.1:p.Ala733Thr, XP_047285736.1:p.Ala715Thr, XP_047285726.1:p.Ala733Thr, XP_047285751.1:p.Ala715Thr, XP_047285729.1:p.Ala733Thr, XP_047285730.1:p.Ala733Thr, XP_047285732.1:p.Ala733Thr, XP_047285733.1:p.Ala733Thr, XP_047285738.1:p.Ala733Thr, XP_047285739.1:p.Ala733Thr, XP_047285740.1:p.Ala733Thr, XP_047285741.1:p.Ala708Thr, XP_047285743.1:p.Ala733Thr, XP_047285752.1:p.Ala715Thr, XP_047285745.1:p.Ala733Thr, XP_047285744.1:p.Ala708Thr, XP_047285746.1:p.Ala733Thr, XP_047285749.1:p.Ala639Thr, XP_047285750.1:p.Ala580Thr

              7.

              rs1486719088 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                12:81325866 (GRCh38)
                12:81719645 (GRCh37)
                Canonical SPDI:
                NC_000012.12:81325865:G:T
                Gene:
                PPFIA2 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.81325866G>T, NC_000012.11:g.81719645G>T, NM_003625.5:c.2553C>A, NM_003625.4:c.2553C>A, NM_003625.3:c.2553C>A, NM_001220473.3:c.2553C>A, NM_001220473.2:c.2553C>A, NM_001220473.1:c.2553C>A, NM_001220474.3:c.2499C>A, NM_001220474.2:c.2499C>A, NM_001220474.1:c.2499C>A, XM_017020103.3:c.2553C>A, XM_017020103.2:c.2553C>A, XM_017020103.1:c.2553C>A, XM_017020090.3:c.2553C>A, XM_017020090.2:c.2553C>A, XM_017020090.1:c.2553C>A, XM_017020107.3:c.2553C>A, XM_017020107.2:c.2553C>A, XM_017020107.1:c.2553C>A, XM_017020108.3:c.2553C>A, XM_017020108.2:c.2553C>A, XM_017020108.1:c.2553C>A, NM_001220480.3:c.204C>A, NM_001220480.2:c.204C>A, NM_001220480.1:c.204C>A, NM_001220479.3:c.1254C>A, NM_001220479.2:c.1254C>A, NM_001220479.1:c.1254C>A, XM_017020094.3:c.2478C>A, XM_017020094.2:c.2478C>A, XM_017020094.1:c.2478C>A, XM_024449244.2:c.2553C>A, XM_024449244.1:c.2553C>A, XM_017020099.2:c.2499C>A, XM_017020099.1:c.2499C>A, NM_001220476.2:c.2553C>A, NM_001220476.1:c.2553C>A, XM_017020105.2:c.2478C>A, XM_017020105.1:c.2478C>A, XM_017020086.2:c.2553C>A, XM_017020086.1:c.2553C>A, XM_024449240.2:c.2553C>A, XM_024449240.1:c.2553C>A, NM_001220475.2:c.2553C>A, NM_001220475.1:c.2553C>A, NM_001220477.2:c.2331C>A, NM_001220477.1:c.2331C>A, NM_001220478.2:c.2256C>A, NM_001220478.1:c.2256C>A, XM_024449242.2:c.2553C>A, XM_024449242.1:c.2553C>A, XM_017020118.2:c.2253C>A, XM_017020118.1:c.2253C>A, XM_017020088.2:c.2499C>A, XM_017020088.1:c.2499C>A, XM_024449241.2:c.2553C>A, XM_024449241.1:c.2553C>A, XM_024449245.2:c.1329C>A, XM_024449245.1:c.1329C>A, XM_047429792.1:c.2271C>A, XM_047429775.1:c.2553C>A, XM_047429778.1:c.2553C>A, XM_047429781.1:c.2553C>A, XM_047429791.1:c.2553C>A, XM_047429786.1:c.2553C>A, NM_001282536.1:c.2094C>A, NR_038265.1:n.2358C>A, XM_047429771.1:c.2553C>A, XM_047429772.1:c.2553C>A, XM_047429780.1:c.2499C>A, XM_047429770.1:c.2553C>A, XM_047429795.1:c.2499C>A, XM_047429773.1:c.2553C>A, XM_047429774.1:c.2553C>A, XM_047429776.1:c.2553C>A, XM_047429777.1:c.2553C>A, XM_047429782.1:c.2553C>A, XM_047429783.1:c.2553C>A, XM_047429784.1:c.2553C>A, XM_047429785.1:c.2478C>A, XM_047429787.1:c.2553C>A, XM_047429796.1:c.2499C>A, XM_047429789.1:c.2553C>A, XM_047429788.1:c.2478C>A, XM_047429790.1:c.2553C>A, XM_047429793.1:c.2271C>A, XM_047429794.1:c.2094C>A

                8.

                rs1486064433 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  12:81281375 (GRCh38)
                  12:81675154 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:81281374:A:G
                  Gene:
                  PPFIA2 (Varview), PPFIA2-AS1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000012.12:g.81281375A>G, NC_000012.11:g.81675154A>G, NM_003625.5:c.3094T>C, NM_003625.4:c.3094T>C, NM_003625.3:c.3094T>C, NM_001220473.3:c.3094T>C, NM_001220473.2:c.3094T>C, NM_001220473.1:c.3094T>C, NM_001220474.3:c.3049T>C, NM_001220474.2:c.3049T>C, NM_001220474.1:c.3049T>C, XM_017020103.3:c.3031T>C, XM_017020103.2:c.3031T>C, XM_017020103.1:c.3031T>C, XM_017020090.3:c.3076T>C, XM_017020090.2:c.3076T>C, XM_017020090.1:c.3076T>C, XM_017020107.3:c.3013T>C, XM_017020107.2:c.3013T>C, XM_017020107.1:c.3013T>C, XM_017020108.3:c.3010T>C, XM_017020108.2:c.3010T>C, XM_017020108.1:c.3010T>C, NM_001220480.3:c.652T>C, NM_001220480.2:c.652T>C, NM_001220480.1:c.652T>C, NM_001220479.3:c.1702T>C, NM_001220479.2:c.1702T>C, NM_001220479.1:c.1702T>C, XM_017020094.3:c.3028T>C, XM_017020094.2:c.3028T>C, XM_017020094.1:c.3028T>C, XM_017020099.2:c.3040T>C, XM_017020099.1:c.3040T>C, NM_001220476.2:c.3076T>C, NM_001220476.1:c.3076T>C, XM_017020105.2:c.3019T>C, XM_017020105.1:c.3019T>C, XM_017020086.2:c.3094T>C, XM_017020086.1:c.3094T>C, XM_024449240.2:c.3064T>C, XM_024449240.1:c.3064T>C, NM_001220475.2:c.3031T>C, NM_001220475.1:c.3031T>C, NM_001220477.2:c.2791T>C, NM_001220477.1:c.2791T>C, NM_001220478.2:c.2779T>C, NM_001220478.1:c.2779T>C, XM_024449242.2:c.3001T>C, XM_024449242.1:c.3001T>C, XM_017020118.2:c.2803T>C, XM_017020118.1:c.2803T>C, XM_017020088.2:c.3049T>C, XM_017020088.1:c.3049T>C, XM_024449241.2:c.2983T>C, XM_024449241.1:c.2983T>C, XM_024449245.2:c.1879T>C, XM_024449245.1:c.1879T>C, XM_047429792.1:c.2821T>C, XM_047429775.1:c.3103T>C, XM_047429778.1:c.3085T>C, XM_047429781.1:c.3073T>C, XM_047429791.1:c.2983T>C, XM_047429786.1:c.3040T>C, NM_001282536.1:c.2635T>C, NR_038265.1:n.2899T>C, XM_047429771.1:c.3103T>C, XM_047429772.1:c.3094T>C, XM_047429780.1:c.3049T>C, XM_047429770.1:c.3103T>C, XM_047429795.1:c.3022T>C, XM_047429773.1:c.3085T>C, XM_047429774.1:c.3076T>C, XM_047429776.1:c.3073T>C, XM_047429777.1:c.3064T>C, XM_047429782.1:c.3040T>C, XM_047429783.1:c.3031T>C, XM_047429784.1:c.3022T>C, XM_047429785.1:c.3019T>C, XM_047429787.1:c.3010T>C, XM_047429796.1:c.2929T>C, XM_047429789.1:c.3001T>C, XM_047429788.1:c.3001T>C, XM_047429790.1:c.2992T>C, XM_047429793.1:c.2821T>C, XM_047429794.1:c.2644T>C

                  9.

                  rs1485947988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:81283014 (GRCh38)
                    12:81676793 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:81283013:G:T
                    Gene:
                    PPFIA2 (Varview), PPFIA2-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    NC_000012.12:g.81283014G>T, NC_000012.11:g.81676793G>T, NM_003625.5:c.3014C>A, NM_003625.4:c.3014C>A, NM_003625.3:c.3014C>A, NM_001220473.3:c.3014C>A, NM_001220473.2:c.3014C>A, NM_001220473.1:c.3014C>A, NM_001220474.3:c.2969C>A, NM_001220474.2:c.2969C>A, NM_001220474.1:c.2969C>A, XM_017020103.3:c.2951C>A, XM_017020103.2:c.2951C>A, XM_017020103.1:c.2951C>A, XM_017020090.3:c.3014C>A, XM_017020090.2:c.3014C>A, XM_017020090.1:c.3014C>A, XM_017020107.3:c.2951C>A, XM_017020107.2:c.2951C>A, XM_017020107.1:c.2951C>A, XM_017020094.3:c.2948C>A, XM_017020094.2:c.2948C>A, XM_017020094.1:c.2948C>A, XM_017020099.2:c.2960C>A, XM_017020099.1:c.2960C>A, NM_001220476.2:c.3014C>A, NM_001220476.1:c.3014C>A, XM_017020105.2:c.2939C>A, XM_017020105.1:c.2939C>A, XM_017020086.2:c.3014C>A, XM_017020086.1:c.3014C>A, NM_001220475.2:c.2951C>A, NM_001220475.1:c.2951C>A, NM_001220477.2:c.2729C>A, NM_001220477.1:c.2729C>A, NM_001220478.2:c.2717C>A, NM_001220478.1:c.2717C>A, XM_017020118.2:c.2723C>A, XM_017020118.1:c.2723C>A, XM_017020088.2:c.2969C>A, XM_017020088.1:c.2969C>A, XM_024449245.2:c.1799C>A, XM_024449245.1:c.1799C>A, XM_047429792.1:c.2741C>A, XM_047429775.1:c.3023C>A, XM_047429778.1:c.3023C>A, XM_047429786.1:c.2960C>A, NM_001282536.1:c.2555C>A, NR_038265.1:n.2819C>A, XM_047429771.1:c.3023C>A, XM_047429772.1:c.3014C>A, XM_047429780.1:c.2969C>A, XM_047429770.1:c.3023C>A, XM_047429795.1:c.2960C>A, XM_047429773.1:c.3023C>A, XM_047429774.1:c.3014C>A, XM_047429782.1:c.2960C>A, XM_047429783.1:c.2951C>A, XM_047429784.1:c.2960C>A, XM_047429785.1:c.2939C>A, XM_047429788.1:c.2939C>A, XM_047429793.1:c.2741C>A, XM_047429794.1:c.2564C>A, NP_003616.2:p.Ala1005Asp, NP_001207402.1:p.Ala1005Asp, NP_001207403.1:p.Ala990Asp, XP_016875592.1:p.Ala984Asp, XP_016875579.1:p.Ala1005Asp, XP_016875596.1:p.Ala984Asp, XP_016875583.1:p.Ala983Asp, XP_016875588.1:p.Ala987Asp, NP_001207405.1:p.Ala1005Asp, XP_016875594.1:p.Ala980Asp, XP_016875575.1:p.Ala1005Asp, NP_001207404.1:p.Ala984Asp, NP_001207406.1:p.Ala910Asp, NP_001207407.1:p.Ala906Asp, XP_016875607.1:p.Ala908Asp, XP_016875577.1:p.Ala990Asp, XP_024305013.1:p.Ala600Asp, XP_047285748.1:p.Ala914Asp, XP_047285731.1:p.Ala1008Asp, XP_047285734.1:p.Ala1008Asp, XP_047285742.1:p.Ala987Asp, NP_001269465.1:p.Ala852Asp, XP_047285727.1:p.Ala1008Asp, XP_047285728.1:p.Ala1005Asp, XP_047285736.1:p.Ala990Asp, XP_047285726.1:p.Ala1008Asp, XP_047285751.1:p.Ala987Asp, XP_047285729.1:p.Ala1008Asp, XP_047285730.1:p.Ala1005Asp, XP_047285738.1:p.Ala987Asp, XP_047285739.1:p.Ala984Asp, XP_047285740.1:p.Ala987Asp, XP_047285741.1:p.Ala980Asp, XP_047285744.1:p.Ala980Asp, XP_047285749.1:p.Ala914Asp, XP_047285750.1:p.Ala855Asp

                    10.

                    rs1485210151 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      12:81358104 (GRCh38)
                      12:81751883 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:81358103:C:G,NC_000012.12:81358103:C:T
                      Gene:
                      PPFIA2 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000031/1 (ALFA)
                      G=0.000013/3 (GnomAD_exomes)
                      HGVS:
                      NC_000012.12:g.81358104C>G, NC_000012.12:g.81358104C>T, NC_000012.11:g.81751883C>G, NC_000012.11:g.81751883C>T, NM_003625.5:c.1751G>C, NM_003625.5:c.1751G>A, NM_003625.4:c.1751G>C, NM_003625.4:c.1751G>A, NM_003625.3:c.1751G>C, NM_003625.3:c.1751G>A, NM_001220473.3:c.1751G>C, NM_001220473.3:c.1751G>A, NM_001220473.2:c.1751G>C, NM_001220473.2:c.1751G>A, NM_001220473.1:c.1751G>C, NM_001220473.1:c.1751G>A, NM_001220474.3:c.1697G>C, NM_001220474.3:c.1697G>A, NM_001220474.2:c.1697G>C, NM_001220474.2:c.1697G>A, NM_001220474.1:c.1697G>C, NM_001220474.1:c.1697G>A, XM_017020103.3:c.1751G>C, XM_017020103.3:c.1751G>A, XM_017020103.2:c.1751G>C, XM_017020103.2:c.1751G>A, XM_017020103.1:c.1751G>C, XM_017020103.1:c.1751G>A, XM_017020090.3:c.1751G>C, XM_017020090.3:c.1751G>A, XM_017020090.2:c.1751G>C, XM_017020090.2:c.1751G>A, XM_017020090.1:c.1751G>C, XM_017020090.1:c.1751G>A, XM_017020107.3:c.1751G>C, XM_017020107.3:c.1751G>A, XM_017020107.2:c.1751G>C, XM_017020107.2:c.1751G>A, XM_017020107.1:c.1751G>C, XM_017020107.1:c.1751G>A, XM_017020108.3:c.1751G>C, XM_017020108.3:c.1751G>A, XM_017020108.2:c.1751G>C, XM_017020108.2:c.1751G>A, XM_017020108.1:c.1751G>C, XM_017020108.1:c.1751G>A, NM_001220480.3:c.-468G>C, NM_001220480.3:c.-468G>A, NM_001220480.2:c.-468G>C, NM_001220480.2:c.-468G>A, NM_001220480.1:c.-468G>C, NM_001220480.1:c.-468G>A, NM_001220479.3:c.452G>C, NM_001220479.3:c.452G>A, NM_001220479.2:c.452G>C, NM_001220479.2:c.452G>A, NM_001220479.1:c.452G>C, NM_001220479.1:c.452G>A, XM_017020094.3:c.1676G>C, XM_017020094.3:c.1676G>A, XM_017020094.2:c.1676G>C, XM_017020094.2:c.1676G>A, XM_017020094.1:c.1676G>C, XM_017020094.1:c.1676G>A, XM_024449244.2:c.1751G>C, XM_024449244.2:c.1751G>A, XM_024449244.1:c.1751G>C, XM_024449244.1:c.1751G>A, XM_017020099.2:c.1697G>C, XM_017020099.2:c.1697G>A, XM_017020099.1:c.1697G>C, XM_017020099.1:c.1697G>A, NM_001220476.2:c.1751G>C, NM_001220476.2:c.1751G>A, NM_001220476.1:c.1751G>C, NM_001220476.1:c.1751G>A, XM_017020105.2:c.1676G>C, XM_017020105.2:c.1676G>A, XM_017020105.1:c.1676G>C, XM_017020105.1:c.1676G>A, XM_017020086.2:c.1751G>C, XM_017020086.2:c.1751G>A, XM_017020086.1:c.1751G>C, XM_017020086.1:c.1751G>A, XM_024449240.2:c.1751G>C, XM_024449240.2:c.1751G>A, XM_024449240.1:c.1751G>C, XM_024449240.1:c.1751G>A, NM_001220475.2:c.1751G>C, NM_001220475.2:c.1751G>A, NM_001220475.1:c.1751G>C, NM_001220475.1:c.1751G>A, NM_001220477.2:c.1529G>C, NM_001220477.2:c.1529G>A, NM_001220477.1:c.1529G>C, NM_001220477.1:c.1529G>A, NM_001220478.2:c.1454G>C, NM_001220478.2:c.1454G>A, NM_001220478.1:c.1454G>C, NM_001220478.1:c.1454G>A, XM_024449242.2:c.1751G>C, XM_024449242.2:c.1751G>A, XM_024449242.1:c.1751G>C, XM_024449242.1:c.1751G>A, XM_017020118.2:c.1451G>C, XM_017020118.2:c.1451G>A, XM_017020118.1:c.1451G>C, XM_017020118.1:c.1451G>A, XM_017020088.2:c.1697G>C, XM_017020088.2:c.1697G>A, XM_017020088.1:c.1697G>C, XM_017020088.1:c.1697G>A, XM_024449241.2:c.1751G>C, XM_024449241.2:c.1751G>A, XM_024449241.1:c.1751G>C, XM_024449241.1:c.1751G>A, XM_024449245.2:c.527G>C, XM_024449245.2:c.527G>A, XM_024449245.1:c.527G>C, XM_024449245.1:c.527G>A, XM_047429792.1:c.1469G>C, XM_047429792.1:c.1469G>A, XM_047429775.1:c.1751G>C, XM_047429775.1:c.1751G>A, XM_047429778.1:c.1751G>C, XM_047429778.1:c.1751G>A, XM_047429781.1:c.1751G>C, XM_047429781.1:c.1751G>A, XM_047429791.1:c.1751G>C, XM_047429791.1:c.1751G>A, XM_047429786.1:c.1751G>C, XM_047429786.1:c.1751G>A, NM_001282536.1:c.1292G>C, NM_001282536.1:c.1292G>A, NR_038265.1:n.1556G>C, NR_038265.1:n.1556G>A, XM_047429771.1:c.1751G>C, XM_047429771.1:c.1751G>A, XM_047429772.1:c.1751G>C, XM_047429772.1:c.1751G>A, XM_047429780.1:c.1697G>C, XM_047429780.1:c.1697G>A, XM_047429770.1:c.1751G>C, XM_047429770.1:c.1751G>A, XM_047429795.1:c.1697G>C, XM_047429795.1:c.1697G>A, XM_047429773.1:c.1751G>C, XM_047429773.1:c.1751G>A, XM_047429774.1:c.1751G>C, XM_047429774.1:c.1751G>A, XM_047429776.1:c.1751G>C, XM_047429776.1:c.1751G>A, XM_047429777.1:c.1751G>C, XM_047429777.1:c.1751G>A, XM_047429782.1:c.1751G>C, XM_047429782.1:c.1751G>A, XM_047429783.1:c.1751G>C, XM_047429783.1:c.1751G>A, XM_047429784.1:c.1751G>C, XM_047429784.1:c.1751G>A, XM_047429785.1:c.1676G>C, XM_047429785.1:c.1676G>A, XM_047429787.1:c.1751G>C, XM_047429787.1:c.1751G>A, XM_047429796.1:c.1697G>C, XM_047429796.1:c.1697G>A, XM_047429789.1:c.1751G>C, XM_047429789.1:c.1751G>A, XM_047429788.1:c.1676G>C, XM_047429788.1:c.1676G>A, XM_047429790.1:c.1751G>C, XM_047429790.1:c.1751G>A, XM_047429793.1:c.1469G>C, XM_047429793.1:c.1469G>A, XM_047429794.1:c.1292G>C, XM_047429794.1:c.1292G>A, NP_003616.2:p.Gly584Ala, NP_003616.2:p.Gly584Asp, NP_001207402.1:p.Gly584Ala, NP_001207402.1:p.Gly584Asp, NP_001207403.1:p.Gly566Ala, NP_001207403.1:p.Gly566Asp, XP_016875592.1:p.Gly584Ala, XP_016875592.1:p.Gly584Asp, XP_016875579.1:p.Gly584Ala, XP_016875579.1:p.Gly584Asp, XP_016875596.1:p.Gly584Ala, XP_016875596.1:p.Gly584Asp, XP_016875597.1:p.Gly584Ala, XP_016875597.1:p.Gly584Asp, NP_001207408.1:p.Gly151Ala, NP_001207408.1:p.Gly151Asp, XP_016875583.1:p.Gly559Ala, XP_016875583.1:p.Gly559Asp, XP_024305012.1:p.Gly584Ala, XP_024305012.1:p.Gly584Asp, XP_016875588.1:p.Gly566Ala, XP_016875588.1:p.Gly566Asp, NP_001207405.1:p.Gly584Ala, NP_001207405.1:p.Gly584Asp, XP_016875594.1:p.Gly559Ala, XP_016875594.1:p.Gly559Asp, XP_016875575.1:p.Gly584Ala, XP_016875575.1:p.Gly584Asp, XP_024305008.1:p.Gly584Ala, XP_024305008.1:p.Gly584Asp, NP_001207404.1:p.Gly584Ala, NP_001207404.1:p.Gly584Asp, NP_001207406.1:p.Gly510Ala, NP_001207406.1:p.Gly510Asp, NP_001207407.1:p.Gly485Ala, NP_001207407.1:p.Gly485Asp, XP_024305010.1:p.Gly584Ala, XP_024305010.1:p.Gly584Asp, XP_016875607.1:p.Gly484Ala, XP_016875607.1:p.Gly484Asp, XP_016875577.1:p.Gly566Ala, XP_016875577.1:p.Gly566Asp, XP_024305009.1:p.Gly584Ala, XP_024305009.1:p.Gly584Asp, XP_024305013.1:p.Gly176Ala, XP_024305013.1:p.Gly176Asp, XP_047285748.1:p.Gly490Ala, XP_047285748.1:p.Gly490Asp, XP_047285731.1:p.Gly584Ala, XP_047285731.1:p.Gly584Asp, XP_047285734.1:p.Gly584Ala, XP_047285734.1:p.Gly584Asp, XP_047285737.1:p.Gly584Ala, XP_047285737.1:p.Gly584Asp, XP_047285747.1:p.Gly584Ala, XP_047285747.1:p.Gly584Asp, XP_047285742.1:p.Gly584Ala, XP_047285742.1:p.Gly584Asp, NP_001269465.1:p.Gly431Ala, NP_001269465.1:p.Gly431Asp, XP_047285727.1:p.Gly584Ala, XP_047285727.1:p.Gly584Asp, XP_047285728.1:p.Gly584Ala, XP_047285728.1:p.Gly584Asp, XP_047285736.1:p.Gly566Ala, XP_047285736.1:p.Gly566Asp, XP_047285726.1:p.Gly584Ala, XP_047285726.1:p.Gly584Asp, XP_047285751.1:p.Gly566Ala, XP_047285751.1:p.Gly566Asp, XP_047285729.1:p.Gly584Ala, XP_047285729.1:p.Gly584Asp, XP_047285730.1:p.Gly584Ala, XP_047285730.1:p.Gly584Asp, XP_047285732.1:p.Gly584Ala, XP_047285732.1:p.Gly584Asp, XP_047285733.1:p.Gly584Ala, XP_047285733.1:p.Gly584Asp, XP_047285738.1:p.Gly584Ala, XP_047285738.1:p.Gly584Asp, XP_047285739.1:p.Gly584Ala, XP_047285739.1:p.Gly584Asp, XP_047285740.1:p.Gly584Ala, XP_047285740.1:p.Gly584Asp, XP_047285741.1:p.Gly559Ala, XP_047285741.1:p.Gly559Asp, XP_047285743.1:p.Gly584Ala, XP_047285743.1:p.Gly584Asp, XP_047285752.1:p.Gly566Ala, XP_047285752.1:p.Gly566Asp, XP_047285745.1:p.Gly584Ala, XP_047285745.1:p.Gly584Asp, XP_047285744.1:p.Gly559Ala, XP_047285744.1:p.Gly559Asp, XP_047285746.1:p.Gly584Ala, XP_047285746.1:p.Gly584Asp, XP_047285749.1:p.Gly490Ala, XP_047285749.1:p.Gly490Asp, XP_047285750.1:p.Gly431Ala, XP_047285750.1:p.Gly431Asp

                      11.

                      rs1481964682 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        12:81368810 (GRCh38)
                        12:81762589 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:81368809:G:A
                        Gene:
                        PPFIA2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000012.12:g.81368810G>A, NC_000012.11:g.81762589G>A, NM_003625.5:c.1397C>T, NM_003625.4:c.1397C>T, NM_003625.3:c.1397C>T, NM_001220473.3:c.1397C>T, NM_001220473.2:c.1397C>T, NM_001220473.1:c.1397C>T, NM_001220474.3:c.1343C>T, NM_001220474.2:c.1343C>T, NM_001220474.1:c.1343C>T, XM_017020103.3:c.1397C>T, XM_017020103.2:c.1397C>T, XM_017020103.1:c.1397C>T, XM_017020090.3:c.1397C>T, XM_017020090.2:c.1397C>T, XM_017020090.1:c.1397C>T, XM_017020107.3:c.1397C>T, XM_017020107.2:c.1397C>T, XM_017020107.1:c.1397C>T, XM_017020108.3:c.1397C>T, XM_017020108.2:c.1397C>T, XM_017020108.1:c.1397C>T, NM_001220480.3:c.-886C>T, NM_001220480.2:c.-886C>T, NM_001220480.1:c.-886C>T, NM_001220479.3:c.98C>T, NM_001220479.2:c.98C>T, NM_001220479.1:c.98C>T, XM_017020094.3:c.1322C>T, XM_017020094.2:c.1322C>T, XM_017020094.1:c.1322C>T, XM_024449244.2:c.1397C>T, XM_024449244.1:c.1397C>T, XM_017020099.2:c.1343C>T, XM_017020099.1:c.1343C>T, NM_001220476.2:c.1397C>T, NM_001220476.1:c.1397C>T, XM_017020105.2:c.1322C>T, XM_017020105.1:c.1322C>T, XM_017020086.2:c.1397C>T, XM_017020086.1:c.1397C>T, XM_024449240.2:c.1397C>T, XM_024449240.1:c.1397C>T, NM_001220475.2:c.1397C>T, NM_001220475.1:c.1397C>T, NM_001220477.2:c.1175C>T, NM_001220477.1:c.1175C>T, NM_001220478.2:c.1100C>T, NM_001220478.1:c.1100C>T, XM_024449242.2:c.1397C>T, XM_024449242.1:c.1397C>T, XM_017020118.2:c.1097C>T, XM_017020118.1:c.1097C>T, XM_017020088.2:c.1343C>T, XM_017020088.1:c.1343C>T, XM_024449241.2:c.1397C>T, XM_024449241.1:c.1397C>T, XM_024449245.2:c.173C>T, XM_024449245.1:c.173C>T, XM_047429792.1:c.1115C>T, XM_047429775.1:c.1397C>T, XM_047429778.1:c.1397C>T, XM_047429781.1:c.1397C>T, XM_047429791.1:c.1397C>T, XM_047429786.1:c.1397C>T, NM_001282536.1:c.938C>T, NR_038265.1:n.1202C>T, XM_047429771.1:c.1397C>T, XM_047429772.1:c.1397C>T, XM_047429780.1:c.1343C>T, XM_047429770.1:c.1397C>T, XM_047429795.1:c.1343C>T, XM_047429773.1:c.1397C>T, XM_047429774.1:c.1397C>T, XM_047429776.1:c.1397C>T, XM_047429777.1:c.1397C>T, XM_047429782.1:c.1397C>T, XM_047429783.1:c.1397C>T, XM_047429784.1:c.1397C>T, XM_047429785.1:c.1322C>T, XM_047429787.1:c.1397C>T, XM_047429796.1:c.1343C>T, XM_047429789.1:c.1397C>T, XM_047429788.1:c.1322C>T, XM_047429790.1:c.1397C>T, XM_047429793.1:c.1115C>T, XM_047429794.1:c.938C>T, NP_003616.2:p.Ser466Leu, NP_001207402.1:p.Ser466Leu, NP_001207403.1:p.Ser448Leu, XP_016875592.1:p.Ser466Leu, XP_016875579.1:p.Ser466Leu, XP_016875596.1:p.Ser466Leu, XP_016875597.1:p.Ser466Leu, NP_001207408.1:p.Ser33Leu, XP_016875583.1:p.Ser441Leu, XP_024305012.1:p.Ser466Leu, XP_016875588.1:p.Ser448Leu, NP_001207405.1:p.Ser466Leu, XP_016875594.1:p.Ser441Leu, XP_016875575.1:p.Ser466Leu, XP_024305008.1:p.Ser466Leu, NP_001207404.1:p.Ser466Leu, NP_001207406.1:p.Ser392Leu, NP_001207407.1:p.Ser367Leu, XP_024305010.1:p.Ser466Leu, XP_016875607.1:p.Ser366Leu, XP_016875577.1:p.Ser448Leu, XP_024305009.1:p.Ser466Leu, XP_024305013.1:p.Ser58Leu, XP_047285748.1:p.Ser372Leu, XP_047285731.1:p.Ser466Leu, XP_047285734.1:p.Ser466Leu, XP_047285737.1:p.Ser466Leu, XP_047285747.1:p.Ser466Leu, XP_047285742.1:p.Ser466Leu, NP_001269465.1:p.Ser313Leu, XP_047285727.1:p.Ser466Leu, XP_047285728.1:p.Ser466Leu, XP_047285736.1:p.Ser448Leu, XP_047285726.1:p.Ser466Leu, XP_047285751.1:p.Ser448Leu, XP_047285729.1:p.Ser466Leu, XP_047285730.1:p.Ser466Leu, XP_047285732.1:p.Ser466Leu, XP_047285733.1:p.Ser466Leu, XP_047285738.1:p.Ser466Leu, XP_047285739.1:p.Ser466Leu, XP_047285740.1:p.Ser466Leu, XP_047285741.1:p.Ser441Leu, XP_047285743.1:p.Ser466Leu, XP_047285752.1:p.Ser448Leu, XP_047285745.1:p.Ser466Leu, XP_047285744.1:p.Ser441Leu, XP_047285746.1:p.Ser466Leu, XP_047285749.1:p.Ser372Leu, XP_047285750.1:p.Ser313Leu

                        12.

                        rs1481733902 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          12:81347611 (GRCh38)
                          12:81741390 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:81347610:G:A
                          Gene:
                          PPFIA2 (Varview), LOC105369872 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000077/2 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000223/1 (Estonian)
                          HGVS:
                          NC_000012.12:g.81347611G>A, NC_000012.11:g.81741390G>A, NM_003625.5:c.2154C>T, NM_003625.4:c.2154C>T, NM_003625.3:c.2154C>T, NM_001220473.3:c.2154C>T, NM_001220473.2:c.2154C>T, NM_001220473.1:c.2154C>T, NM_001220474.3:c.2100C>T, NM_001220474.2:c.2100C>T, NM_001220474.1:c.2100C>T, XM_017020103.3:c.2154C>T, XM_017020103.2:c.2154C>T, XM_017020103.1:c.2154C>T, XM_017020090.3:c.2154C>T, XM_017020090.2:c.2154C>T, XM_017020090.1:c.2154C>T, XM_017020107.3:c.2154C>T, XM_017020107.2:c.2154C>T, XM_017020107.1:c.2154C>T, XM_017020108.3:c.2154C>T, XM_017020108.2:c.2154C>T, XM_017020108.1:c.2154C>T, NM_001220479.3:c.855C>T, NM_001220479.2:c.855C>T, NM_001220479.1:c.855C>T, XM_017020094.3:c.2079C>T, XM_017020094.2:c.2079C>T, XM_017020094.1:c.2079C>T, XM_024449244.2:c.2154C>T, XM_024449244.1:c.2154C>T, XM_017020099.2:c.2100C>T, XM_017020099.1:c.2100C>T, NM_001220476.2:c.2154C>T, NM_001220476.1:c.2154C>T, XM_017020105.2:c.2079C>T, XM_017020105.1:c.2079C>T, XM_017020086.2:c.2154C>T, XM_017020086.1:c.2154C>T, XM_024449240.2:c.2154C>T, XM_024449240.1:c.2154C>T, NM_001220475.2:c.2154C>T, NM_001220475.1:c.2154C>T, NM_001220477.2:c.1932C>T, NM_001220477.1:c.1932C>T, NM_001220478.2:c.1857C>T, NM_001220478.1:c.1857C>T, XM_024449242.2:c.2154C>T, XM_024449242.1:c.2154C>T, XM_017020118.2:c.1854C>T, XM_017020118.1:c.1854C>T, XM_017020088.2:c.2100C>T, XM_017020088.1:c.2100C>T, XM_024449241.2:c.2154C>T, XM_024449241.1:c.2154C>T, XM_024449245.2:c.930C>T, XM_024449245.1:c.930C>T, XM_047429792.1:c.1872C>T, XM_047429775.1:c.2154C>T, XM_047429778.1:c.2154C>T, XM_047429781.1:c.2154C>T, XM_047429791.1:c.2154C>T, XM_047429786.1:c.2154C>T, NM_001282536.1:c.1695C>T, NR_038265.1:n.1959C>T, XM_047429771.1:c.2154C>T, XM_047429772.1:c.2154C>T, XM_047429780.1:c.2100C>T, XM_047429770.1:c.2154C>T, XM_047429795.1:c.2100C>T, XM_047429773.1:c.2154C>T, XM_047429774.1:c.2154C>T, XM_047429776.1:c.2154C>T, XM_047429777.1:c.2154C>T, XM_047429782.1:c.2154C>T, XM_047429783.1:c.2154C>T, XM_047429784.1:c.2154C>T, XM_047429785.1:c.2079C>T, XM_047429787.1:c.2154C>T, XM_047429796.1:c.2100C>T, XM_047429789.1:c.2154C>T, XM_047429788.1:c.2079C>T, XM_047429790.1:c.2154C>T, XM_047429793.1:c.1872C>T, XM_047429794.1:c.1695C>T

                          13.

                          rs1481460927 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            12:81405887 (GRCh38)
                            12:81799666 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:81405886:T:C
                            Gene:
                            PPFIA2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            HGVS:
                            NC_000012.12:g.81405887T>C, NC_000012.11:g.81799666T>C, NM_003625.5:c.662A>G, NM_003625.4:c.662A>G, NM_003625.3:c.662A>G, NM_001220473.3:c.662A>G, NM_001220473.2:c.662A>G, NM_001220473.1:c.662A>G, NM_001220474.3:c.608A>G, NM_001220474.2:c.608A>G, NM_001220474.1:c.608A>G, XM_017020103.3:c.662A>G, XM_017020103.2:c.662A>G, XM_017020103.1:c.662A>G, XM_017020090.3:c.662A>G, XM_017020090.2:c.662A>G, XM_017020090.1:c.662A>G, XM_017020107.3:c.662A>G, XM_017020107.2:c.662A>G, XM_017020107.1:c.662A>G, XM_017020108.3:c.662A>G, XM_017020108.2:c.662A>G, XM_017020108.1:c.662A>G, XM_017020094.3:c.587A>G, XM_017020094.2:c.587A>G, XM_017020094.1:c.587A>G, XM_024449244.2:c.662A>G, XM_024449244.1:c.662A>G, XM_017020099.2:c.608A>G, XM_017020099.1:c.608A>G, NM_001220476.2:c.662A>G, NM_001220476.1:c.662A>G, XM_017020105.2:c.587A>G, XM_017020105.1:c.587A>G, XM_017020086.2:c.662A>G, XM_017020086.1:c.662A>G, XM_024449240.2:c.662A>G, XM_024449240.1:c.662A>G, NM_001220475.2:c.662A>G, NM_001220475.1:c.662A>G, NM_001220477.2:c.440A>G, NM_001220477.1:c.440A>G, NM_001220478.2:c.365A>G, NM_001220478.1:c.365A>G, XM_024449242.2:c.662A>G, XM_024449242.1:c.662A>G, XM_017020118.2:c.362A>G, XM_017020118.1:c.362A>G, XM_017020088.2:c.608A>G, XM_017020088.1:c.608A>G, XM_024449241.2:c.662A>G, XM_024449241.1:c.662A>G, XM_047429792.1:c.380A>G, XM_047429775.1:c.662A>G, XM_047429778.1:c.662A>G, XM_047429781.1:c.662A>G, XM_047429791.1:c.662A>G, XM_047429786.1:c.662A>G, NM_001282536.1:c.203A>G, NR_038265.1:n.467A>G, XM_047429771.1:c.662A>G, XM_047429772.1:c.662A>G, XM_047429780.1:c.608A>G, XM_047429770.1:c.662A>G, XM_047429795.1:c.608A>G, XM_047429773.1:c.662A>G, XM_047429774.1:c.662A>G, XM_047429776.1:c.662A>G, XM_047429777.1:c.662A>G, XM_047429782.1:c.662A>G, XM_047429783.1:c.662A>G, XM_047429784.1:c.662A>G, XM_047429785.1:c.587A>G, XM_047429787.1:c.662A>G, XM_047429796.1:c.608A>G, XM_047429789.1:c.662A>G, XM_047429788.1:c.587A>G, XM_047429790.1:c.662A>G, XM_047429793.1:c.380A>G, XM_047429794.1:c.203A>G, NP_003616.2:p.Glu221Gly, NP_001207402.1:p.Glu221Gly, NP_001207403.1:p.Glu203Gly, XP_016875592.1:p.Glu221Gly, XP_016875579.1:p.Glu221Gly, XP_016875596.1:p.Glu221Gly, XP_016875597.1:p.Glu221Gly, XP_016875583.1:p.Glu196Gly, XP_024305012.1:p.Glu221Gly, XP_016875588.1:p.Glu203Gly, NP_001207405.1:p.Glu221Gly, XP_016875594.1:p.Glu196Gly, XP_016875575.1:p.Glu221Gly, XP_024305008.1:p.Glu221Gly, NP_001207404.1:p.Glu221Gly, NP_001207406.1:p.Glu147Gly, NP_001207407.1:p.Glu122Gly, XP_024305010.1:p.Glu221Gly, XP_016875607.1:p.Glu121Gly, XP_016875577.1:p.Glu203Gly, XP_024305009.1:p.Glu221Gly, XP_047285748.1:p.Glu127Gly, XP_047285731.1:p.Glu221Gly, XP_047285734.1:p.Glu221Gly, XP_047285737.1:p.Glu221Gly, XP_047285747.1:p.Glu221Gly, XP_047285742.1:p.Glu221Gly, NP_001269465.1:p.Glu68Gly, XP_047285727.1:p.Glu221Gly, XP_047285728.1:p.Glu221Gly, XP_047285736.1:p.Glu203Gly, XP_047285726.1:p.Glu221Gly, XP_047285751.1:p.Glu203Gly, XP_047285729.1:p.Glu221Gly, XP_047285730.1:p.Glu221Gly, XP_047285732.1:p.Glu221Gly, XP_047285733.1:p.Glu221Gly, XP_047285738.1:p.Glu221Gly, XP_047285739.1:p.Glu221Gly, XP_047285740.1:p.Glu221Gly, XP_047285741.1:p.Glu196Gly, XP_047285743.1:p.Glu221Gly, XP_047285752.1:p.Glu203Gly, XP_047285745.1:p.Glu221Gly, XP_047285744.1:p.Glu196Gly, XP_047285746.1:p.Glu221Gly, XP_047285749.1:p.Glu127Gly, XP_047285750.1:p.Glu68Gly

                            14.

                            rs1481205005 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              12:81362762 (GRCh38)
                              12:81756541 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:81362761:T:C
                              Gene:
                              PPFIA2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000224/1 (ALFA)
                              C=0.000007/1 (GnomAD)
                              C=0.000223/1 (Estonian)
                              HGVS:
                              NC_000012.12:g.81362762T>C, NC_000012.11:g.81756541T>C, NM_003625.5:c.1568A>G, NM_003625.4:c.1568A>G, NM_003625.3:c.1568A>G, NM_001220473.3:c.1568A>G, NM_001220473.2:c.1568A>G, NM_001220473.1:c.1568A>G, NM_001220474.3:c.1514A>G, NM_001220474.2:c.1514A>G, NM_001220474.1:c.1514A>G, XM_017020103.3:c.1568A>G, XM_017020103.2:c.1568A>G, XM_017020103.1:c.1568A>G, XM_017020090.3:c.1568A>G, XM_017020090.2:c.1568A>G, XM_017020090.1:c.1568A>G, XM_017020107.3:c.1568A>G, XM_017020107.2:c.1568A>G, XM_017020107.1:c.1568A>G, XM_017020108.3:c.1568A>G, XM_017020108.2:c.1568A>G, XM_017020108.1:c.1568A>G, NM_001220480.3:c.-651A>G, NM_001220480.2:c.-651A>G, NM_001220480.1:c.-651A>G, NM_001220479.3:c.269A>G, NM_001220479.2:c.269A>G, NM_001220479.1:c.269A>G, XM_017020094.3:c.1493A>G, XM_017020094.2:c.1493A>G, XM_017020094.1:c.1493A>G, XM_024449244.2:c.1568A>G, XM_024449244.1:c.1568A>G, XM_017020099.2:c.1514A>G, XM_017020099.1:c.1514A>G, NM_001220476.2:c.1568A>G, NM_001220476.1:c.1568A>G, XM_017020105.2:c.1493A>G, XM_017020105.1:c.1493A>G, XM_017020086.2:c.1568A>G, XM_017020086.1:c.1568A>G, XM_024449240.2:c.1568A>G, XM_024449240.1:c.1568A>G, NM_001220475.2:c.1568A>G, NM_001220475.1:c.1568A>G, NM_001220477.2:c.1346A>G, NM_001220477.1:c.1346A>G, NM_001220478.2:c.1271A>G, NM_001220478.1:c.1271A>G, XM_024449242.2:c.1568A>G, XM_024449242.1:c.1568A>G, XM_017020118.2:c.1268A>G, XM_017020118.1:c.1268A>G, XM_017020088.2:c.1514A>G, XM_017020088.1:c.1514A>G, XM_024449241.2:c.1568A>G, XM_024449241.1:c.1568A>G, XM_024449245.2:c.344A>G, XM_024449245.1:c.344A>G, XM_047429792.1:c.1286A>G, XM_047429775.1:c.1568A>G, XM_047429778.1:c.1568A>G, XM_047429781.1:c.1568A>G, XM_047429791.1:c.1568A>G, XM_047429786.1:c.1568A>G, NM_001282536.1:c.1109A>G, NR_038265.1:n.1373A>G, XM_047429771.1:c.1568A>G, XM_047429772.1:c.1568A>G, XM_047429780.1:c.1514A>G, XM_047429770.1:c.1568A>G, XM_047429795.1:c.1514A>G, XM_047429773.1:c.1568A>G, XM_047429774.1:c.1568A>G, XM_047429776.1:c.1568A>G, XM_047429777.1:c.1568A>G, XM_047429782.1:c.1568A>G, XM_047429783.1:c.1568A>G, XM_047429784.1:c.1568A>G, XM_047429785.1:c.1493A>G, XM_047429787.1:c.1568A>G, XM_047429796.1:c.1514A>G, XM_047429789.1:c.1568A>G, XM_047429788.1:c.1493A>G, XM_047429790.1:c.1568A>G, XM_047429793.1:c.1286A>G, XM_047429794.1:c.1109A>G, NP_003616.2:p.Glu523Gly, NP_001207402.1:p.Glu523Gly, NP_001207403.1:p.Glu505Gly, XP_016875592.1:p.Glu523Gly, XP_016875579.1:p.Glu523Gly, XP_016875596.1:p.Glu523Gly, XP_016875597.1:p.Glu523Gly, NP_001207408.1:p.Glu90Gly, XP_016875583.1:p.Glu498Gly, XP_024305012.1:p.Glu523Gly, XP_016875588.1:p.Glu505Gly, NP_001207405.1:p.Glu523Gly, XP_016875594.1:p.Glu498Gly, XP_016875575.1:p.Glu523Gly, XP_024305008.1:p.Glu523Gly, NP_001207404.1:p.Glu523Gly, NP_001207406.1:p.Glu449Gly, NP_001207407.1:p.Glu424Gly, XP_024305010.1:p.Glu523Gly, XP_016875607.1:p.Glu423Gly, XP_016875577.1:p.Glu505Gly, XP_024305009.1:p.Glu523Gly, XP_024305013.1:p.Glu115Gly, XP_047285748.1:p.Glu429Gly, XP_047285731.1:p.Glu523Gly, XP_047285734.1:p.Glu523Gly, XP_047285737.1:p.Glu523Gly, XP_047285747.1:p.Glu523Gly, XP_047285742.1:p.Glu523Gly, NP_001269465.1:p.Glu370Gly, XP_047285727.1:p.Glu523Gly, XP_047285728.1:p.Glu523Gly, XP_047285736.1:p.Glu505Gly, XP_047285726.1:p.Glu523Gly, XP_047285751.1:p.Glu505Gly, XP_047285729.1:p.Glu523Gly, XP_047285730.1:p.Glu523Gly, XP_047285732.1:p.Glu523Gly, XP_047285733.1:p.Glu523Gly, XP_047285738.1:p.Glu523Gly, XP_047285739.1:p.Glu523Gly, XP_047285740.1:p.Glu523Gly, XP_047285741.1:p.Glu498Gly, XP_047285743.1:p.Glu523Gly, XP_047285752.1:p.Glu505Gly, XP_047285745.1:p.Glu523Gly, XP_047285744.1:p.Glu498Gly, XP_047285746.1:p.Glu523Gly, XP_047285749.1:p.Glu429Gly, XP_047285750.1:p.Glu370Gly

                              15.

                              rs1481092676 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                12:81277362 (GRCh38)
                                12:81671141 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:81277361:T:G
                                Gene:
                                PPFIA2 (Varview), PPFIA2-AS1 (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.81277362T>G, NC_000012.11:g.81671141T>G, NM_003625.5:c.3265A>C, NM_003625.4:c.3265A>C, NM_003625.3:c.3265A>C, NM_001220473.3:c.3265A>C, NM_001220473.2:c.3265A>C, NM_001220473.1:c.3265A>C, NM_001220474.3:c.3220A>C, NM_001220474.2:c.3220A>C, NM_001220474.1:c.3220A>C, XM_017020103.3:c.3202A>C, XM_017020103.2:c.3202A>C, XM_017020103.1:c.3202A>C, XM_017020090.3:c.3247A>C, XM_017020090.2:c.3247A>C, XM_017020090.1:c.3247A>C, XM_017020107.3:c.3184A>C, XM_017020107.2:c.3184A>C, XM_017020107.1:c.3184A>C, XM_017020108.3:c.3181A>C, XM_017020108.2:c.3181A>C, XM_017020108.1:c.3181A>C, NM_001220480.3:c.823A>C, NM_001220480.2:c.823A>C, NM_001220480.1:c.823A>C, NM_001220479.3:c.1873A>C, NM_001220479.2:c.1873A>C, NM_001220479.1:c.1873A>C, XM_017020094.3:c.3199A>C, XM_017020094.2:c.3199A>C, XM_017020094.1:c.3199A>C, XM_017020099.2:c.3211A>C, XM_017020099.1:c.3211A>C, NM_001220476.2:c.3247A>C, NM_001220476.1:c.3247A>C, XM_017020105.2:c.3190A>C, XM_017020105.1:c.3190A>C, XM_017020086.2:c.3265A>C, XM_017020086.1:c.3265A>C, XM_024449240.2:c.3235A>C, XM_024449240.1:c.3235A>C, NM_001220475.2:c.3202A>C, NM_001220475.1:c.3202A>C, NM_001220477.2:c.2962A>C, NM_001220477.1:c.2962A>C, NM_001220478.2:c.2950A>C, NM_001220478.1:c.2950A>C, XM_024449242.2:c.3172A>C, XM_024449242.1:c.3172A>C, XM_017020118.2:c.2974A>C, XM_017020118.1:c.2974A>C, XM_017020088.2:c.3220A>C, XM_017020088.1:c.3220A>C, XM_024449241.2:c.3154A>C, XM_024449241.1:c.3154A>C, XM_024449245.2:c.2050A>C, XM_024449245.1:c.2050A>C, XM_047429792.1:c.2992A>C, XM_047429775.1:c.3274A>C, XM_047429778.1:c.3256A>C, XM_047429781.1:c.3244A>C, XM_047429791.1:c.3154A>C, XM_047429786.1:c.3211A>C, NM_001282536.1:c.2806A>C, NR_038265.1:n.3070A>C, XM_047429771.1:c.3274A>C, XM_047429772.1:c.3265A>C, XM_047429780.1:c.3220A>C, XM_047429770.1:c.3274A>C, XM_047429795.1:c.3193A>C, XM_047429773.1:c.3256A>C, XM_047429774.1:c.3247A>C, XM_047429776.1:c.3244A>C, XM_047429777.1:c.3235A>C, XM_047429782.1:c.3211A>C, XM_047429783.1:c.3202A>C, XM_047429784.1:c.3193A>C, XM_047429785.1:c.3190A>C, XM_047429787.1:c.3181A>C, XM_047429796.1:c.3100A>C, XM_047429789.1:c.3172A>C, XM_047429788.1:c.3172A>C, XM_047429790.1:c.3163A>C, XM_047429793.1:c.2992A>C, XM_047429794.1:c.2815A>C, NP_003616.2:p.Lys1089Gln, NP_001207402.1:p.Lys1089Gln, NP_001207403.1:p.Lys1074Gln, XP_016875592.1:p.Lys1068Gln, XP_016875579.1:p.Lys1083Gln, XP_016875596.1:p.Lys1062Gln, XP_016875597.1:p.Lys1061Gln, NP_001207409.1:p.Lys275Gln, NP_001207408.1:p.Lys625Gln, XP_016875583.1:p.Lys1067Gln, XP_016875588.1:p.Lys1071Gln, NP_001207405.1:p.Lys1083Gln, XP_016875594.1:p.Lys1064Gln, XP_016875575.1:p.Lys1089Gln, XP_024305008.1:p.Lys1079Gln, NP_001207404.1:p.Lys1068Gln, NP_001207406.1:p.Lys988Gln, NP_001207407.1:p.Lys984Gln, XP_024305010.1:p.Lys1058Gln, XP_016875607.1:p.Lys992Gln, XP_016875577.1:p.Lys1074Gln, XP_024305009.1:p.Lys1052Gln, XP_024305013.1:p.Lys684Gln, XP_047285748.1:p.Lys998Gln, XP_047285731.1:p.Lys1092Gln, XP_047285734.1:p.Lys1086Gln, XP_047285737.1:p.Lys1082Gln, XP_047285747.1:p.Lys1052Gln, XP_047285742.1:p.Lys1071Gln, NP_001269465.1:p.Lys936Gln, XP_047285727.1:p.Lys1092Gln, XP_047285728.1:p.Lys1089Gln, XP_047285736.1:p.Lys1074Gln, XP_047285726.1:p.Lys1092Gln, XP_047285751.1:p.Lys1065Gln, XP_047285729.1:p.Lys1086Gln, XP_047285730.1:p.Lys1083Gln, XP_047285732.1:p.Lys1082Gln, XP_047285733.1:p.Lys1079Gln, XP_047285738.1:p.Lys1071Gln, XP_047285739.1:p.Lys1068Gln, XP_047285740.1:p.Lys1065Gln, XP_047285741.1:p.Lys1064Gln, XP_047285743.1:p.Lys1061Gln, XP_047285752.1:p.Lys1034Gln, XP_047285745.1:p.Lys1058Gln, XP_047285744.1:p.Lys1058Gln, XP_047285746.1:p.Lys1055Gln, XP_047285749.1:p.Lys998Gln, XP_047285750.1:p.Lys939Gln

                                16.

                                rs1480243585 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  12:81266964 (GRCh38)
                                  12:81660743 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:81266963:C:T
                                  Gene:
                                  PPFIA2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.81266964C>T, NC_000012.11:g.81660743C>T, NM_003625.5:c.3543G>A, NM_003625.4:c.3543G>A, NM_003625.3:c.3543G>A, NM_001220473.3:c.3543G>A, NM_001220473.2:c.3543G>A, NM_001220473.1:c.3543G>A, NM_001220474.3:c.3498G>A, NM_001220474.2:c.3498G>A, NM_001220474.1:c.3498G>A, XM_017020103.3:c.3480G>A, XM_017020103.2:c.3480G>A, XM_017020103.1:c.3480G>A, XM_017020090.3:c.3525G>A, XM_017020090.2:c.3525G>A, XM_017020090.1:c.3525G>A, XM_017020107.3:c.3462G>A, XM_017020107.2:c.3462G>A, XM_017020107.1:c.3462G>A, XM_017020108.3:c.3459G>A, XM_017020108.2:c.3459G>A, XM_017020108.1:c.3459G>A, NM_001220480.3:c.1101G>A, NM_001220480.2:c.1101G>A, NM_001220480.1:c.1101G>A, NM_001220479.3:c.2151G>A, NM_001220479.2:c.2151G>A, NM_001220479.1:c.2151G>A, XM_017020094.3:c.3477G>A, XM_017020094.2:c.3477G>A, XM_017020094.1:c.3477G>A, XM_017020099.2:c.3489G>A, XM_017020099.1:c.3489G>A, NM_001220476.2:c.3525G>A, NM_001220476.1:c.3525G>A, XM_017020105.2:c.3468G>A, XM_017020105.1:c.3468G>A, XM_017020086.2:c.3543G>A, XM_017020086.1:c.3543G>A, XM_024449240.2:c.3513G>A, XM_024449240.1:c.3513G>A, NM_001220475.2:c.3480G>A, NM_001220475.1:c.3480G>A, NM_001220477.2:c.3240G>A, NM_001220477.1:c.3240G>A, NM_001220478.2:c.3228G>A, NM_001220478.1:c.3228G>A, XM_024449242.2:c.3450G>A, XM_024449242.1:c.3450G>A, XM_017020118.2:c.3252G>A, XM_017020118.1:c.3252G>A, XM_017020088.2:c.3498G>A, XM_017020088.1:c.3498G>A, XM_024449241.2:c.3432G>A, XM_024449241.1:c.3432G>A, XM_024449245.2:c.2328G>A, XM_024449245.1:c.2328G>A, XM_047429792.1:c.3270G>A, XM_047429775.1:c.3552G>A, XM_047429778.1:c.3534G>A, XM_047429781.1:c.3522G>A, XM_047429791.1:c.3432G>A, XM_047429786.1:c.3489G>A, NM_001282536.1:c.3084G>A, NR_038265.1:n.3348G>A, XM_047429771.1:c.3552G>A, XM_047429772.1:c.3543G>A, XM_047429780.1:c.3498G>A, XM_047429770.1:c.3552G>A, XM_047429795.1:c.3471G>A, XM_047429773.1:c.3534G>A, XM_047429774.1:c.3525G>A, XM_047429776.1:c.3522G>A, XM_047429777.1:c.3513G>A, XM_047429782.1:c.3489G>A, XM_047429783.1:c.3480G>A, XM_047429784.1:c.3471G>A, XM_047429785.1:c.3468G>A, XM_047429787.1:c.3459G>A, XM_047429796.1:c.3378G>A, XM_047429789.1:c.3450G>A, XM_047429788.1:c.3450G>A, XM_047429790.1:c.3441G>A, XM_047429793.1:c.3270G>A, XM_047429794.1:c.3093G>A

                                  17.

                                  rs1477780048 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    12:81358117 (GRCh38)
                                    12:81751896 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:81358116:T:C
                                    Gene:
                                    PPFIA2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.81358117T>C, NC_000012.11:g.81751896T>C, NM_003625.5:c.1738A>G, NM_003625.4:c.1738A>G, NM_003625.3:c.1738A>G, NM_001220473.3:c.1738A>G, NM_001220473.2:c.1738A>G, NM_001220473.1:c.1738A>G, NM_001220474.3:c.1684A>G, NM_001220474.2:c.1684A>G, NM_001220474.1:c.1684A>G, XM_017020103.3:c.1738A>G, XM_017020103.2:c.1738A>G, XM_017020103.1:c.1738A>G, XM_017020090.3:c.1738A>G, XM_017020090.2:c.1738A>G, XM_017020090.1:c.1738A>G, XM_017020107.3:c.1738A>G, XM_017020107.2:c.1738A>G, XM_017020107.1:c.1738A>G, XM_017020108.3:c.1738A>G, XM_017020108.2:c.1738A>G, XM_017020108.1:c.1738A>G, NM_001220480.3:c.-481A>G, NM_001220480.2:c.-481A>G, NM_001220480.1:c.-481A>G, NM_001220479.3:c.439A>G, NM_001220479.2:c.439A>G, NM_001220479.1:c.439A>G, XM_017020094.3:c.1663A>G, XM_017020094.2:c.1663A>G, XM_017020094.1:c.1663A>G, XM_024449244.2:c.1738A>G, XM_024449244.1:c.1738A>G, XM_017020099.2:c.1684A>G, XM_017020099.1:c.1684A>G, NM_001220476.2:c.1738A>G, NM_001220476.1:c.1738A>G, XM_017020105.2:c.1663A>G, XM_017020105.1:c.1663A>G, XM_017020086.2:c.1738A>G, XM_017020086.1:c.1738A>G, XM_024449240.2:c.1738A>G, XM_024449240.1:c.1738A>G, NM_001220475.2:c.1738A>G, NM_001220475.1:c.1738A>G, NM_001220477.2:c.1516A>G, NM_001220477.1:c.1516A>G, NM_001220478.2:c.1441A>G, NM_001220478.1:c.1441A>G, XM_024449242.2:c.1738A>G, XM_024449242.1:c.1738A>G, XM_017020118.2:c.1438A>G, XM_017020118.1:c.1438A>G, XM_017020088.2:c.1684A>G, XM_017020088.1:c.1684A>G, XM_024449241.2:c.1738A>G, XM_024449241.1:c.1738A>G, XM_024449245.2:c.514A>G, XM_024449245.1:c.514A>G, XM_047429792.1:c.1456A>G, XM_047429775.1:c.1738A>G, XM_047429778.1:c.1738A>G, XM_047429781.1:c.1738A>G, XM_047429791.1:c.1738A>G, XM_047429786.1:c.1738A>G, NM_001282536.1:c.1279A>G, NR_038265.1:n.1543A>G, XM_047429771.1:c.1738A>G, XM_047429772.1:c.1738A>G, XM_047429780.1:c.1684A>G, XM_047429770.1:c.1738A>G, XM_047429795.1:c.1684A>G, XM_047429773.1:c.1738A>G, XM_047429774.1:c.1738A>G, XM_047429776.1:c.1738A>G, XM_047429777.1:c.1738A>G, XM_047429782.1:c.1738A>G, XM_047429783.1:c.1738A>G, XM_047429784.1:c.1738A>G, XM_047429785.1:c.1663A>G, XM_047429787.1:c.1738A>G, XM_047429796.1:c.1684A>G, XM_047429789.1:c.1738A>G, XM_047429788.1:c.1663A>G, XM_047429790.1:c.1738A>G, XM_047429793.1:c.1456A>G, XM_047429794.1:c.1279A>G, NP_003616.2:p.Arg580Gly, NP_001207402.1:p.Arg580Gly, NP_001207403.1:p.Arg562Gly, XP_016875592.1:p.Arg580Gly, XP_016875579.1:p.Arg580Gly, XP_016875596.1:p.Arg580Gly, XP_016875597.1:p.Arg580Gly, NP_001207408.1:p.Arg147Gly, XP_016875583.1:p.Arg555Gly, XP_024305012.1:p.Arg580Gly, XP_016875588.1:p.Arg562Gly, NP_001207405.1:p.Arg580Gly, XP_016875594.1:p.Arg555Gly, XP_016875575.1:p.Arg580Gly, XP_024305008.1:p.Arg580Gly, NP_001207404.1:p.Arg580Gly, NP_001207406.1:p.Arg506Gly, NP_001207407.1:p.Arg481Gly, XP_024305010.1:p.Arg580Gly, XP_016875607.1:p.Arg480Gly, XP_016875577.1:p.Arg562Gly, XP_024305009.1:p.Arg580Gly, XP_024305013.1:p.Arg172Gly, XP_047285748.1:p.Arg486Gly, XP_047285731.1:p.Arg580Gly, XP_047285734.1:p.Arg580Gly, XP_047285737.1:p.Arg580Gly, XP_047285747.1:p.Arg580Gly, XP_047285742.1:p.Arg580Gly, NP_001269465.1:p.Arg427Gly, XP_047285727.1:p.Arg580Gly, XP_047285728.1:p.Arg580Gly, XP_047285736.1:p.Arg562Gly, XP_047285726.1:p.Arg580Gly, XP_047285751.1:p.Arg562Gly, XP_047285729.1:p.Arg580Gly, XP_047285730.1:p.Arg580Gly, XP_047285732.1:p.Arg580Gly, XP_047285733.1:p.Arg580Gly, XP_047285738.1:p.Arg580Gly, XP_047285739.1:p.Arg580Gly, XP_047285740.1:p.Arg580Gly, XP_047285741.1:p.Arg555Gly, XP_047285743.1:p.Arg580Gly, XP_047285752.1:p.Arg562Gly, XP_047285745.1:p.Arg580Gly, XP_047285744.1:p.Arg555Gly, XP_047285746.1:p.Arg580Gly, XP_047285749.1:p.Arg486Gly, XP_047285750.1:p.Arg427Gly

                                    18.

                                    rs1476380191 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      12:81339287 (GRCh38)
                                      12:81733066 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:81339286:G:T
                                      Gene:
                                      PPFIA2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.81339287G>T, NC_000012.11:g.81733066G>T, NM_003625.5:c.2441C>A, NM_003625.4:c.2441C>A, NM_003625.3:c.2441C>A, NM_001220473.3:c.2441C>A, NM_001220473.2:c.2441C>A, NM_001220473.1:c.2441C>A, NM_001220474.3:c.2387C>A, NM_001220474.2:c.2387C>A, NM_001220474.1:c.2387C>A, XM_017020103.3:c.2441C>A, XM_017020103.2:c.2441C>A, XM_017020103.1:c.2441C>A, XM_017020090.3:c.2441C>A, XM_017020090.2:c.2441C>A, XM_017020090.1:c.2441C>A, XM_017020107.3:c.2441C>A, XM_017020107.2:c.2441C>A, XM_017020107.1:c.2441C>A, XM_017020108.3:c.2441C>A, XM_017020108.2:c.2441C>A, XM_017020108.1:c.2441C>A, NM_001220480.3:c.92C>A, NM_001220480.2:c.92C>A, NM_001220480.1:c.92C>A, NM_001220479.3:c.1142C>A, NM_001220479.2:c.1142C>A, NM_001220479.1:c.1142C>A, XM_017020094.3:c.2366C>A, XM_017020094.2:c.2366C>A, XM_017020094.1:c.2366C>A, XM_024449244.2:c.2441C>A, XM_024449244.1:c.2441C>A, XM_017020099.2:c.2387C>A, XM_017020099.1:c.2387C>A, NM_001220476.2:c.2441C>A, NM_001220476.1:c.2441C>A, XM_017020105.2:c.2366C>A, XM_017020105.1:c.2366C>A, XM_017020086.2:c.2441C>A, XM_017020086.1:c.2441C>A, XM_024449240.2:c.2441C>A, XM_024449240.1:c.2441C>A, NM_001220475.2:c.2441C>A, NM_001220475.1:c.2441C>A, NM_001220477.2:c.2219C>A, NM_001220477.1:c.2219C>A, NM_001220478.2:c.2144C>A, NM_001220478.1:c.2144C>A, XM_024449242.2:c.2441C>A, XM_024449242.1:c.2441C>A, XM_017020118.2:c.2141C>A, XM_017020118.1:c.2141C>A, XM_017020088.2:c.2387C>A, XM_017020088.1:c.2387C>A, XM_024449241.2:c.2441C>A, XM_024449241.1:c.2441C>A, XM_024449245.2:c.1217C>A, XM_024449245.1:c.1217C>A, XM_047429792.1:c.2159C>A, XM_047429775.1:c.2441C>A, XM_047429778.1:c.2441C>A, XM_047429781.1:c.2441C>A, XM_047429791.1:c.2441C>A, XM_047429786.1:c.2441C>A, NM_001282536.1:c.1982C>A, NR_038265.1:n.2246C>A, XM_047429771.1:c.2441C>A, XM_047429772.1:c.2441C>A, XM_047429780.1:c.2387C>A, XM_047429770.1:c.2441C>A, XM_047429795.1:c.2387C>A, XM_047429773.1:c.2441C>A, XM_047429774.1:c.2441C>A, XM_047429776.1:c.2441C>A, XM_047429777.1:c.2441C>A, XM_047429782.1:c.2441C>A, XM_047429783.1:c.2441C>A, XM_047429784.1:c.2441C>A, XM_047429785.1:c.2366C>A, XM_047429787.1:c.2441C>A, XM_047429796.1:c.2387C>A, XM_047429789.1:c.2441C>A, XM_047429788.1:c.2366C>A, XM_047429790.1:c.2441C>A, XM_047429793.1:c.2159C>A, XM_047429794.1:c.1982C>A, NP_003616.2:p.Ala814Asp, NP_001207402.1:p.Ala814Asp, NP_001207403.1:p.Ala796Asp, XP_016875592.1:p.Ala814Asp, XP_016875579.1:p.Ala814Asp, XP_016875596.1:p.Ala814Asp, XP_016875597.1:p.Ala814Asp, NP_001207409.1:p.Ala31Asp, NP_001207408.1:p.Ala381Asp, XP_016875583.1:p.Ala789Asp, XP_024305012.1:p.Ala814Asp, XP_016875588.1:p.Ala796Asp, NP_001207405.1:p.Ala814Asp, XP_016875594.1:p.Ala789Asp, XP_016875575.1:p.Ala814Asp, XP_024305008.1:p.Ala814Asp, NP_001207404.1:p.Ala814Asp, NP_001207406.1:p.Ala740Asp, NP_001207407.1:p.Ala715Asp, XP_024305010.1:p.Ala814Asp, XP_016875607.1:p.Ala714Asp, XP_016875577.1:p.Ala796Asp, XP_024305009.1:p.Ala814Asp, XP_024305013.1:p.Ala406Asp, XP_047285748.1:p.Ala720Asp, XP_047285731.1:p.Ala814Asp, XP_047285734.1:p.Ala814Asp, XP_047285737.1:p.Ala814Asp, XP_047285747.1:p.Ala814Asp, XP_047285742.1:p.Ala814Asp, NP_001269465.1:p.Ala661Asp, XP_047285727.1:p.Ala814Asp, XP_047285728.1:p.Ala814Asp, XP_047285736.1:p.Ala796Asp, XP_047285726.1:p.Ala814Asp, XP_047285751.1:p.Ala796Asp, XP_047285729.1:p.Ala814Asp, XP_047285730.1:p.Ala814Asp, XP_047285732.1:p.Ala814Asp, XP_047285733.1:p.Ala814Asp, XP_047285738.1:p.Ala814Asp, XP_047285739.1:p.Ala814Asp, XP_047285740.1:p.Ala814Asp, XP_047285741.1:p.Ala789Asp, XP_047285743.1:p.Ala814Asp, XP_047285752.1:p.Ala796Asp, XP_047285745.1:p.Ala814Asp, XP_047285744.1:p.Ala789Asp, XP_047285746.1:p.Ala814Asp, XP_047285749.1:p.Ala720Asp, XP_047285750.1:p.Ala661Asp

                                      19.

                                      rs1476105313 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        12:81362741 (GRCh38)
                                        12:81756520 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:81362740:T:C
                                        Gene:
                                        PPFIA2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,5_prime_UTR_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_000012.12:g.81362741T>C, NC_000012.11:g.81756520T>C, NM_003625.5:c.1589A>G, NM_003625.4:c.1589A>G, NM_003625.3:c.1589A>G, NM_001220473.3:c.1589A>G, NM_001220473.2:c.1589A>G, NM_001220473.1:c.1589A>G, NM_001220474.3:c.1535A>G, NM_001220474.2:c.1535A>G, NM_001220474.1:c.1535A>G, XM_017020103.3:c.1589A>G, XM_017020103.2:c.1589A>G, XM_017020103.1:c.1589A>G, XM_017020090.3:c.1589A>G, XM_017020090.2:c.1589A>G, XM_017020090.1:c.1589A>G, XM_017020107.3:c.1589A>G, XM_017020107.2:c.1589A>G, XM_017020107.1:c.1589A>G, XM_017020108.3:c.1589A>G, XM_017020108.2:c.1589A>G, XM_017020108.1:c.1589A>G, NM_001220480.3:c.-630A>G, NM_001220480.2:c.-630A>G, NM_001220480.1:c.-630A>G, NM_001220479.3:c.290A>G, NM_001220479.2:c.290A>G, NM_001220479.1:c.290A>G, XM_017020094.3:c.1514A>G, XM_017020094.2:c.1514A>G, XM_017020094.1:c.1514A>G, XM_024449244.2:c.1589A>G, XM_024449244.1:c.1589A>G, XM_017020099.2:c.1535A>G, XM_017020099.1:c.1535A>G, NM_001220476.2:c.1589A>G, NM_001220476.1:c.1589A>G, XM_017020105.2:c.1514A>G, XM_017020105.1:c.1514A>G, XM_017020086.2:c.1589A>G, XM_017020086.1:c.1589A>G, XM_024449240.2:c.1589A>G, XM_024449240.1:c.1589A>G, NM_001220475.2:c.1589A>G, NM_001220475.1:c.1589A>G, NM_001220477.2:c.1367A>G, NM_001220477.1:c.1367A>G, NM_001220478.2:c.1292A>G, NM_001220478.1:c.1292A>G, XM_024449242.2:c.1589A>G, XM_024449242.1:c.1589A>G, XM_017020118.2:c.1289A>G, XM_017020118.1:c.1289A>G, XM_017020088.2:c.1535A>G, XM_017020088.1:c.1535A>G, XM_024449241.2:c.1589A>G, XM_024449241.1:c.1589A>G, XM_024449245.2:c.365A>G, XM_024449245.1:c.365A>G, XM_047429792.1:c.1307A>G, XM_047429775.1:c.1589A>G, XM_047429778.1:c.1589A>G, XM_047429781.1:c.1589A>G, XM_047429791.1:c.1589A>G, XM_047429786.1:c.1589A>G, NM_001282536.1:c.1130A>G, NR_038265.1:n.1394A>G, XM_047429771.1:c.1589A>G, XM_047429772.1:c.1589A>G, XM_047429780.1:c.1535A>G, XM_047429770.1:c.1589A>G, XM_047429795.1:c.1535A>G, XM_047429773.1:c.1589A>G, XM_047429774.1:c.1589A>G, XM_047429776.1:c.1589A>G, XM_047429777.1:c.1589A>G, XM_047429782.1:c.1589A>G, XM_047429783.1:c.1589A>G, XM_047429784.1:c.1589A>G, XM_047429785.1:c.1514A>G, XM_047429787.1:c.1589A>G, XM_047429796.1:c.1535A>G, XM_047429789.1:c.1589A>G, XM_047429788.1:c.1514A>G, XM_047429790.1:c.1589A>G, XM_047429793.1:c.1307A>G, XM_047429794.1:c.1130A>G, NP_003616.2:p.Asp530Gly, NP_001207402.1:p.Asp530Gly, NP_001207403.1:p.Asp512Gly, XP_016875592.1:p.Asp530Gly, XP_016875579.1:p.Asp530Gly, XP_016875596.1:p.Asp530Gly, XP_016875597.1:p.Asp530Gly, NP_001207408.1:p.Asp97Gly, XP_016875583.1:p.Asp505Gly, XP_024305012.1:p.Asp530Gly, XP_016875588.1:p.Asp512Gly, NP_001207405.1:p.Asp530Gly, XP_016875594.1:p.Asp505Gly, XP_016875575.1:p.Asp530Gly, XP_024305008.1:p.Asp530Gly, NP_001207404.1:p.Asp530Gly, NP_001207406.1:p.Asp456Gly, NP_001207407.1:p.Asp431Gly, XP_024305010.1:p.Asp530Gly, XP_016875607.1:p.Asp430Gly, XP_016875577.1:p.Asp512Gly, XP_024305009.1:p.Asp530Gly, XP_024305013.1:p.Asp122Gly, XP_047285748.1:p.Asp436Gly, XP_047285731.1:p.Asp530Gly, XP_047285734.1:p.Asp530Gly, XP_047285737.1:p.Asp530Gly, XP_047285747.1:p.Asp530Gly, XP_047285742.1:p.Asp530Gly, NP_001269465.1:p.Asp377Gly, XP_047285727.1:p.Asp530Gly, XP_047285728.1:p.Asp530Gly, XP_047285736.1:p.Asp512Gly, XP_047285726.1:p.Asp530Gly, XP_047285751.1:p.Asp512Gly, XP_047285729.1:p.Asp530Gly, XP_047285730.1:p.Asp530Gly, XP_047285732.1:p.Asp530Gly, XP_047285733.1:p.Asp530Gly, XP_047285738.1:p.Asp530Gly, XP_047285739.1:p.Asp530Gly, XP_047285740.1:p.Asp530Gly, XP_047285741.1:p.Asp505Gly, XP_047285743.1:p.Asp530Gly, XP_047285752.1:p.Asp512Gly, XP_047285745.1:p.Asp530Gly, XP_047285744.1:p.Asp505Gly, XP_047285746.1:p.Asp530Gly, XP_047285749.1:p.Asp436Gly, XP_047285750.1:p.Asp377Gly

                                        20.

                                        rs1475731319 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:81405858 (GRCh38)
                                          12:81799637 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:81405857:C:T
                                          Gene:
                                          PPFIA2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000094/1 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000011/3 (TOPMED)
                                          HGVS:
                                          NC_000012.12:g.81405858C>T, NC_000012.11:g.81799637C>T, NM_003625.5:c.691G>A, NM_003625.4:c.691G>A, NM_003625.3:c.691G>A, NM_001220473.3:c.691G>A, NM_001220473.2:c.691G>A, NM_001220473.1:c.691G>A, NM_001220474.3:c.637G>A, NM_001220474.2:c.637G>A, NM_001220474.1:c.637G>A, XM_017020103.3:c.691G>A, XM_017020103.2:c.691G>A, XM_017020103.1:c.691G>A, XM_017020090.3:c.691G>A, XM_017020090.2:c.691G>A, XM_017020090.1:c.691G>A, XM_017020107.3:c.691G>A, XM_017020107.2:c.691G>A, XM_017020107.1:c.691G>A, XM_017020108.3:c.691G>A, XM_017020108.2:c.691G>A, XM_017020108.1:c.691G>A, XM_017020094.3:c.616G>A, XM_017020094.2:c.616G>A, XM_017020094.1:c.616G>A, XM_024449244.2:c.691G>A, XM_024449244.1:c.691G>A, XM_017020099.2:c.637G>A, XM_017020099.1:c.637G>A, NM_001220476.2:c.691G>A, NM_001220476.1:c.691G>A, XM_017020105.2:c.616G>A, XM_017020105.1:c.616G>A, XM_017020086.2:c.691G>A, XM_017020086.1:c.691G>A, XM_024449240.2:c.691G>A, XM_024449240.1:c.691G>A, NM_001220475.2:c.691G>A, NM_001220475.1:c.691G>A, NM_001220477.2:c.469G>A, NM_001220477.1:c.469G>A, NM_001220478.2:c.394G>A, NM_001220478.1:c.394G>A, XM_024449242.2:c.691G>A, XM_024449242.1:c.691G>A, XM_017020118.2:c.391G>A, XM_017020118.1:c.391G>A, XM_017020088.2:c.637G>A, XM_017020088.1:c.637G>A, XM_024449241.2:c.691G>A, XM_024449241.1:c.691G>A, XM_047429792.1:c.409G>A, XM_047429775.1:c.691G>A, XM_047429778.1:c.691G>A, XM_047429781.1:c.691G>A, XM_047429791.1:c.691G>A, XM_047429786.1:c.691G>A, NM_001282536.1:c.232G>A, NR_038265.1:n.496G>A, XM_047429771.1:c.691G>A, XM_047429772.1:c.691G>A, XM_047429780.1:c.637G>A, XM_047429770.1:c.691G>A, XM_047429795.1:c.637G>A, XM_047429773.1:c.691G>A, XM_047429774.1:c.691G>A, XM_047429776.1:c.691G>A, XM_047429777.1:c.691G>A, XM_047429782.1:c.691G>A, XM_047429783.1:c.691G>A, XM_047429784.1:c.691G>A, XM_047429785.1:c.616G>A, XM_047429787.1:c.691G>A, XM_047429796.1:c.637G>A, XM_047429789.1:c.691G>A, XM_047429788.1:c.616G>A, XM_047429790.1:c.691G>A, XM_047429793.1:c.409G>A, XM_047429794.1:c.232G>A, NP_003616.2:p.Ala231Thr, NP_001207402.1:p.Ala231Thr, NP_001207403.1:p.Ala213Thr, XP_016875592.1:p.Ala231Thr, XP_016875579.1:p.Ala231Thr, XP_016875596.1:p.Ala231Thr, XP_016875597.1:p.Ala231Thr, XP_016875583.1:p.Ala206Thr, XP_024305012.1:p.Ala231Thr, XP_016875588.1:p.Ala213Thr, NP_001207405.1:p.Ala231Thr, XP_016875594.1:p.Ala206Thr, XP_016875575.1:p.Ala231Thr, XP_024305008.1:p.Ala231Thr, NP_001207404.1:p.Ala231Thr, NP_001207406.1:p.Ala157Thr, NP_001207407.1:p.Ala132Thr, XP_024305010.1:p.Ala231Thr, XP_016875607.1:p.Ala131Thr, XP_016875577.1:p.Ala213Thr, XP_024305009.1:p.Ala231Thr, XP_047285748.1:p.Ala137Thr, XP_047285731.1:p.Ala231Thr, XP_047285734.1:p.Ala231Thr, XP_047285737.1:p.Ala231Thr, XP_047285747.1:p.Ala231Thr, XP_047285742.1:p.Ala231Thr, NP_001269465.1:p.Ala78Thr, XP_047285727.1:p.Ala231Thr, XP_047285728.1:p.Ala231Thr, XP_047285736.1:p.Ala213Thr, XP_047285726.1:p.Ala231Thr, XP_047285751.1:p.Ala213Thr, XP_047285729.1:p.Ala231Thr, XP_047285730.1:p.Ala231Thr, XP_047285732.1:p.Ala231Thr, XP_047285733.1:p.Ala231Thr, XP_047285738.1:p.Ala231Thr, XP_047285739.1:p.Ala231Thr, XP_047285740.1:p.Ala231Thr, XP_047285741.1:p.Ala206Thr, XP_047285743.1:p.Ala231Thr, XP_047285752.1:p.Ala213Thr, XP_047285745.1:p.Ala231Thr, XP_047285744.1:p.Ala206Thr, XP_047285746.1:p.Ala231Thr, XP_047285749.1:p.Ala137Thr, XP_047285750.1:p.Ala78Thr

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