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Items: 1 to 20 of 1134

1.

rs1486352256 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    11:70338376 (GRCh38)
    11:70184482 (GRCh37)
    Canonical SPDI:
    NC_000011.10:70338375:T:G
    Gene:
    PPFIA1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.70338376T>G, NC_000011.9:g.70184482T>G, NW_021160005.1:g.94197T>G, NM_003626.5:c.1494T>G, NM_003626.4:c.1494T>G, NM_003626.3:c.1494T>G, XM_006718716.4:c.1569T>G, XM_006718716.3:c.1569T>G, XM_006718716.2:c.1569T>G, XM_006718716.1:c.1569T>G, XM_011545307.4:c.1569T>G, XM_011545307.3:c.1569T>G, XM_011545307.2:c.1569T>G, XM_011545307.1:c.1569T>G, XM_011545308.4:c.1569T>G, XM_011545308.3:c.1569T>G, XM_011545308.2:c.1569T>G, XM_011545308.1:c.1569T>G, XM_011545310.4:c.1494T>G, XM_011545310.3:c.1494T>G, XM_011545310.2:c.1494T>G, XM_011545310.1:c.1494T>G, XM_011545311.4:c.1569T>G, XM_011545311.3:c.1569T>G, XM_011545311.2:c.1569T>G, XM_011545311.1:c.1569T>G, XM_011545306.4:c.1569T>G, XM_011545306.3:c.1569T>G, XM_011545306.2:c.1569T>G, XM_011545306.1:c.1569T>G, XM_011545314.4:c.1569T>G, XM_011545314.3:c.1569T>G, XM_011545314.2:c.1569T>G, XM_011545314.1:c.1569T>G, XM_011545309.3:c.1569T>G, XM_011545309.2:c.1569T>G, XM_011545309.1:c.1569T>G, XM_011545312.3:c.1569T>G, XM_011545312.2:c.1569T>G, XM_011545312.1:c.1569T>G, XM_011545315.3:c.1494T>G, XM_011545315.2:c.1494T>G, XM_011545315.1:c.1494T>G, XM_011545316.3:c.1569T>G, XM_011545316.2:c.1569T>G, XM_011545316.1:c.1569T>G, XM_011545317.3:c.1569T>G, XM_011545317.2:c.1569T>G, XM_011545317.1:c.1569T>G, NR_045286.3:n.1719T>G, NR_045286.2:n.1719T>G, NR_045286.1:n.1709T>G, NM_177423.3:c.1494T>G, NM_177423.2:c.1494T>G, XM_017018448.2:c.1569T>G, XM_017018448.1:c.1569T>G, XM_011545319.2:c.1494T>G, XM_011545319.1:c.1494T>G, NM_001378006.1:c.1569T>G, XM_047427764.1:c.1494T>G, XM_047427766.1:c.1494T>G, XM_047427767.1:c.1494T>G, XM_047427768.1:c.1494T>G, XM_047427769.1:c.1494T>G, XM_047427770.1:c.1569T>G, XM_047427772.1:c.1569T>G, XM_047427774.1:c.1494T>G, XM_047427775.1:c.1494T>G, XM_047427763.1:c.1569T>G, XM_017018449.2:c.1494T>G, XM_017018449.1:c.1494T>G, XM_047427773.1:c.1569T>G, XM_047427771.1:c.1494T>G, XM_047427765.1:c.1494T>G, NP_003617.1:p.Asp498Glu, XP_006718779.1:p.Asp523Glu, XP_011543609.1:p.Asp523Glu, XP_011543610.1:p.Asp523Glu, XP_011543612.1:p.Asp498Glu, XP_011543613.1:p.Asp523Glu, XP_011543608.1:p.Asp523Glu, XP_011543616.1:p.Asp523Glu, XP_011543611.1:p.Asp523Glu, XP_011543614.1:p.Asp523Glu, XP_011543617.1:p.Asp498Glu, XP_011543618.1:p.Asp523Glu, XP_011543619.1:p.Asp523Glu, NP_803172.1:p.Asp498Glu, XP_016873937.1:p.Asp523Glu, XP_011543621.1:p.Asp498Glu, NP_001364935.1:p.Asp523Glu, XP_047283720.1:p.Asp498Glu, XP_047283722.1:p.Asp498Glu, XP_047283723.1:p.Asp498Glu, XP_047283724.1:p.Asp498Glu, XP_047283725.1:p.Asp498Glu, XP_047283726.1:p.Asp523Glu, XP_047283728.1:p.Asp523Glu, XP_047283730.1:p.Asp498Glu, XP_047283731.1:p.Asp498Glu, XP_047283719.1:p.Asp523Glu, XP_016873938.1:p.Asp498Glu, XP_047283729.1:p.Asp523Glu, XP_047283727.1:p.Asp498Glu, XP_047283721.1:p.Asp498Glu

    2.

    rs1485198104 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:70382103 (GRCh38)
      11:70228209 (GRCh37)
      Canonical SPDI:
      NC_000011.10:70382102:C:T
      Gene:
      PPFIA1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.70382103C>T, NC_000011.9:g.70228209C>T, NW_021160005.1:g.143391C>T, NM_003626.5:c.3566C>T, NM_003626.4:c.3566C>T, NM_003626.3:c.3566C>T, XM_006718716.4:c.3878C>T, XM_006718716.3:c.3878C>T, XM_006718716.2:c.3878C>T, XM_006718716.1:c.3878C>T, XM_011545307.4:c.3851C>T, XM_011545307.3:c.3851C>T, XM_011545307.2:c.3851C>T, XM_011545307.1:c.3851C>T, XM_011545308.4:c.3848C>T, XM_011545308.3:c.3848C>T, XM_011545308.2:c.3848C>T, XM_011545308.1:c.3848C>T, XM_011545310.4:c.3803C>T, XM_011545310.3:c.3803C>T, XM_011545310.2:c.3803C>T, XM_011545310.1:c.3803C>T, XM_011545311.4:c.3791C>T, XM_011545311.3:c.3791C>T, XM_011545311.2:c.3791C>T, XM_011545311.1:c.3791C>T, XM_011545306.4:c.3878C>T, XM_011545306.3:c.3878C>T, XM_011545306.2:c.3878C>T, XM_011545306.1:c.3878C>T, XM_011545314.4:c.3731C>T, XM_011545314.3:c.3731C>T, XM_011545314.2:c.3731C>T, XM_011545314.1:c.3731C>T, XM_011545312.3:c.3788C>T, XM_011545312.2:c.3788C>T, XM_011545312.1:c.3788C>T, XM_011545315.3:c.3686C>T, XM_011545315.2:c.3686C>T, XM_011545315.1:c.3686C>T, XM_011545316.3:c.3671C>T, XM_011545316.2:c.3671C>T, XM_011545316.1:c.3671C>T, XM_011545317.3:c.3641C>T, XM_011545317.2:c.3641C>T, XM_011545317.1:c.3641C>T, NR_045286.3:n.3802C>T, NR_045286.2:n.3802C>T, NR_045286.1:n.3792C>T, XM_017018448.2:c.3758C>T, XM_017018448.1:c.3758C>T, XM_011545319.2:c.3659C>T, XM_011545319.1:c.3659C>T, XM_017018449.2:c.3596C>T, XM_017018449.1:c.3596C>T, XM_047427765.1:c.3773C>T, NM_001378006.1:c.3761C>T, XM_047427764.1:c.3803C>T, XM_047427766.1:c.3713C>T, XM_047427767.1:c.3686C>T, XM_047427768.1:c.3683C>T, XM_047427769.1:c.3656C>T, XM_047427770.1:c.3644C>T, XM_047427771.1:c.3629C>T, XM_047427774.1:c.3569C>T, XM_047427776.1:c.2186C>T, NP_003617.1:p.Thr1189Ile, XP_006718779.1:p.Thr1293Ile, XP_011543609.1:p.Thr1284Ile, XP_011543610.1:p.Thr1283Ile, XP_011543612.1:p.Thr1268Ile, XP_011543613.1:p.Thr1264Ile, XP_011543608.1:p.Thr1293Ile, XP_011543616.1:p.Thr1244Ile, XP_011543614.1:p.Thr1263Ile, XP_011543617.1:p.Thr1229Ile, XP_011543618.1:p.Thr1224Ile, XP_011543619.1:p.Thr1214Ile, XP_016873937.1:p.Thr1253Ile, XP_011543621.1:p.Thr1220Ile, XP_016873938.1:p.Thr1199Ile, XP_047283721.1:p.Thr1258Ile, NP_001364935.1:p.Thr1254Ile, XP_047283720.1:p.Thr1268Ile, XP_047283722.1:p.Thr1238Ile, XP_047283723.1:p.Thr1229Ile, XP_047283724.1:p.Thr1228Ile, XP_047283725.1:p.Thr1219Ile, XP_047283726.1:p.Thr1215Ile, XP_047283727.1:p.Thr1210Ile, XP_047283730.1:p.Thr1190Ile, XP_047283732.1:p.Thr729Ile

      3.

      rs1484534281 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        11:70330238 (GRCh38)
        11:70176344 (GRCh37)
        Canonical SPDI:
        NC_000011.10:70330237:A:G
        Gene:
        PPFIA1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_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_000011.10:g.70330238A>G, NC_000011.9:g.70176344A>G, NW_021160005.1:g.86059A>G, NM_003626.5:c.996A>G, NM_003626.4:c.996A>G, NM_003626.3:c.996A>G, XM_006718716.4:c.996A>G, XM_006718716.3:c.996A>G, XM_006718716.2:c.996A>G, XM_006718716.1:c.996A>G, XM_011545307.4:c.996A>G, XM_011545307.3:c.996A>G, XM_011545307.2:c.996A>G, XM_011545307.1:c.996A>G, XM_011545308.4:c.996A>G, XM_011545308.3:c.996A>G, XM_011545308.2:c.996A>G, XM_011545308.1:c.996A>G, XM_011545310.4:c.996A>G, XM_011545310.3:c.996A>G, XM_011545310.2:c.996A>G, XM_011545310.1:c.996A>G, XM_011545311.4:c.996A>G, XM_011545311.3:c.996A>G, XM_011545311.2:c.996A>G, XM_011545311.1:c.996A>G, XM_011545306.4:c.996A>G, XM_011545306.3:c.996A>G, XM_011545306.2:c.996A>G, XM_011545306.1:c.996A>G, XM_011545314.4:c.996A>G, XM_011545314.3:c.996A>G, XM_011545314.2:c.996A>G, XM_011545314.1:c.996A>G, XM_011545309.3:c.996A>G, XM_011545309.2:c.996A>G, XM_011545309.1:c.996A>G, XM_011545312.3:c.996A>G, XM_011545312.2:c.996A>G, XM_011545312.1:c.996A>G, XM_011545315.3:c.996A>G, XM_011545315.2:c.996A>G, XM_011545315.1:c.996A>G, XM_011545316.3:c.996A>G, XM_011545316.2:c.996A>G, XM_011545316.1:c.996A>G, XM_011545317.3:c.996A>G, XM_011545317.2:c.996A>G, XM_011545317.1:c.996A>G, NR_045286.3:n.1221A>G, NR_045286.2:n.1221A>G, NR_045286.1:n.1211A>G, NM_177423.3:c.996A>G, NM_177423.2:c.996A>G, XM_017018448.2:c.996A>G, XM_017018448.1:c.996A>G, XM_011545319.2:c.996A>G, XM_011545319.1:c.996A>G, NM_001378006.1:c.996A>G, XM_047427764.1:c.996A>G, XM_047427766.1:c.996A>G, XM_047427767.1:c.996A>G, XM_047427768.1:c.996A>G, XM_047427769.1:c.996A>G, XM_047427770.1:c.996A>G, XM_047427772.1:c.996A>G, XM_047427774.1:c.996A>G, XM_047427775.1:c.996A>G, XM_047427763.1:c.996A>G, XM_017018449.2:c.996A>G, XM_017018449.1:c.996A>G, XM_047427773.1:c.996A>G, XM_047427771.1:c.996A>G, XM_047427765.1:c.996A>G

        4.

        rs1483858201 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AA>- [Show Flanks]
          Chromosome:
          11:70354334 (GRCh38)
          11:70200440 (GRCh37)
          Canonical SPDI:
          NC_000011.10:70354333:AA:
          Gene:
          PPFIA1 (Varview)
          Functional Consequence:
          frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.70354334_70354335del, NC_000011.9:g.70200440_70200441del, NW_021160005.1:g.110155_110156del, NM_003626.5:c.2197_2198del, NM_003626.4:c.2197_2198del, NM_003626.3:c.2197_2198del, XM_006718716.4:c.2419_2420del, XM_006718716.3:c.2419_2420del, XM_006718716.2:c.2419_2420del, XM_006718716.1:c.2419_2420del, XM_011545307.4:c.2419_2420del, XM_011545307.3:c.2419_2420del, XM_011545307.2:c.2419_2420del, XM_011545307.1:c.2419_2420del, XM_011545308.4:c.2389_2390del, XM_011545308.3:c.2389_2390del, XM_011545308.2:c.2389_2390del, XM_011545308.1:c.2389_2390del, XM_011545310.4:c.2344_2345del, XM_011545310.3:c.2344_2345del, XM_011545310.2:c.2344_2345del, XM_011545310.1:c.2344_2345del, XM_011545311.4:c.2419_2420del, XM_011545311.3:c.2419_2420del, XM_011545311.2:c.2419_2420del, XM_011545311.1:c.2419_2420del, XM_011545306.4:c.2419_2420del, XM_011545306.3:c.2419_2420del, XM_011545306.2:c.2419_2420del, XM_011545306.1:c.2419_2420del, XM_011545314.4:c.2272_2273del, XM_011545314.3:c.2272_2273del, XM_011545314.2:c.2272_2273del, XM_011545314.1:c.2272_2273del, NM_177423.3:c.2197_2198del, NM_177423.2:c.2197_2198del, XM_011545309.3:c.2419_2420del, XM_011545309.2:c.2419_2420del, XM_011545309.1:c.2419_2420del, XM_011545312.3:c.2419_2420del, XM_011545312.2:c.2419_2420del, XM_011545312.1:c.2419_2420del, XM_011545315.3:c.2227_2228del, XM_011545315.2:c.2227_2228del, XM_011545315.1:c.2227_2228del, XM_011545316.3:c.2302_2303del, XM_011545316.2:c.2302_2303del, XM_011545316.1:c.2302_2303del, XM_011545317.3:c.2272_2273del, XM_011545317.2:c.2272_2273del, XM_011545317.1:c.2272_2273del, NR_045286.3:n.2433_2434del, NR_045286.2:n.2433_2434del, NR_045286.1:n.2423_2424del, XM_017018448.2:c.2389_2390del, XM_017018448.1:c.2389_2390del, XM_011545319.2:c.2227_2228del, XM_011545319.1:c.2227_2228del, XM_017018449.2:c.2227_2228del, XM_017018449.1:c.2227_2228del, NM_001378006.1:c.2302_2303del, XM_047427764.1:c.2344_2345del, XM_047427766.1:c.2344_2345del, XM_047427767.1:c.2314_2315del, XM_047427768.1:c.2314_2315del, XM_047427769.1:c.2197_2198del, XM_047427770.1:c.2272_2273del, XM_047427771.1:c.2197_2198del, XM_047427772.1:c.2272_2273del, XM_047427773.1:c.2272_2273del, XM_047427774.1:c.2197_2198del, XM_047427775.1:c.2197_2198del, XM_047427763.1:c.2419_2420del, XM_047427776.1:c.727_728del, XM_047427765.1:c.2314_2315del, NP_003617.1:p.Lys733fs, XP_006718779.1:p.Lys807fs, XP_011543609.1:p.Lys807fs, XP_011543610.1:p.Lys797fs, XP_011543612.1:p.Lys782fs, XP_011543613.1:p.Lys807fs, XP_011543608.1:p.Lys807fs, XP_011543616.1:p.Lys758fs, NP_803172.1:p.Lys733fs, XP_011543611.1:p.Lys807fs, XP_011543614.1:p.Lys807fs, XP_011543617.1:p.Lys743fs, XP_011543618.1:p.Lys768fs, XP_011543619.1:p.Lys758fs, XP_016873937.1:p.Lys797fs, XP_011543621.1:p.Lys743fs, XP_016873938.1:p.Lys743fs, NP_001364935.1:p.Lys768fs, XP_047283720.1:p.Lys782fs, XP_047283722.1:p.Lys782fs, XP_047283723.1:p.Lys772fs, XP_047283724.1:p.Lys772fs, XP_047283725.1:p.Lys733fs, XP_047283726.1:p.Lys758fs, XP_047283727.1:p.Lys733fs, XP_047283728.1:p.Lys758fs, XP_047283729.1:p.Lys758fs, XP_047283730.1:p.Lys733fs, XP_047283731.1:p.Lys733fs, XP_047283719.1:p.Lys807fs, XP_047283732.1:p.Lys243fs, XP_047283721.1:p.Lys772fs

          5.

          rs1483500938 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:70348270 (GRCh38)
            11:70194376 (GRCh37)
            Canonical SPDI:
            NC_000011.10:70348269:T:C
            Gene:
            PPFIA1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,non_coding_transcript_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_000011.10:g.70348270T>C, NC_000011.9:g.70194376T>C, NW_021160005.1:g.104091T>C, NM_003626.5:c.2013T>C, NM_003626.4:c.2013T>C, NM_003626.3:c.2013T>C, XM_006718716.4:c.2088T>C, XM_006718716.3:c.2088T>C, XM_006718716.2:c.2088T>C, XM_006718716.1:c.2088T>C, XM_011545307.4:c.2088T>C, XM_011545307.3:c.2088T>C, XM_011545307.2:c.2088T>C, XM_011545307.1:c.2088T>C, XM_011545308.4:c.2088T>C, XM_011545308.3:c.2088T>C, XM_011545308.2:c.2088T>C, XM_011545308.1:c.2088T>C, XM_011545310.4:c.2013T>C, XM_011545310.3:c.2013T>C, XM_011545310.2:c.2013T>C, XM_011545310.1:c.2013T>C, XM_011545311.4:c.2088T>C, XM_011545311.3:c.2088T>C, XM_011545311.2:c.2088T>C, XM_011545311.1:c.2088T>C, XM_011545306.4:c.2088T>C, XM_011545306.3:c.2088T>C, XM_011545306.2:c.2088T>C, XM_011545306.1:c.2088T>C, XM_011545314.4:c.2088T>C, XM_011545314.3:c.2088T>C, XM_011545314.2:c.2088T>C, XM_011545314.1:c.2088T>C, NM_177423.3:c.2013T>C, NM_177423.2:c.2013T>C, XM_011545309.3:c.2088T>C, XM_011545309.2:c.2088T>C, XM_011545309.1:c.2088T>C, XM_011545312.3:c.2088T>C, XM_011545312.2:c.2088T>C, XM_011545312.1:c.2088T>C, XM_011545315.3:c.2013T>C, XM_011545315.2:c.2013T>C, XM_011545315.1:c.2013T>C, XM_011545316.3:c.2088T>C, XM_011545316.2:c.2088T>C, XM_011545316.1:c.2088T>C, XM_011545317.3:c.2088T>C, XM_011545317.2:c.2088T>C, XM_011545317.1:c.2088T>C, NR_045286.3:n.2219T>C, NR_045286.2:n.2219T>C, NR_045286.1:n.2209T>C, XM_017018448.2:c.2088T>C, XM_017018448.1:c.2088T>C, XM_011545319.2:c.2013T>C, XM_011545319.1:c.2013T>C, XM_017018449.2:c.2013T>C, XM_017018449.1:c.2013T>C, NM_001378006.1:c.2088T>C, XM_047427764.1:c.2013T>C, XM_047427766.1:c.2013T>C, XM_047427767.1:c.2013T>C, XM_047427768.1:c.2013T>C, XM_047427769.1:c.2013T>C, XM_047427770.1:c.2088T>C, XM_047427771.1:c.2013T>C, XM_047427772.1:c.2088T>C, XM_047427773.1:c.2088T>C, XM_047427774.1:c.2013T>C, XM_047427775.1:c.2013T>C, XM_047427763.1:c.2088T>C, XM_047427776.1:c.396T>C, XM_047427765.1:c.2013T>C

            6.

            rs1483187518 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:70324497 (GRCh38)
              11:70170603 (GRCh37)
              Canonical SPDI:
              NC_000011.10:70324496:C:T
              Gene:
              PPFIA1 (Varview), LOC105369373 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000008/2 (TOPMED)
              HGVS:
              NC_000011.10:g.70324497C>T, NC_000011.9:g.70170603C>T, NW_021160005.1:g.80318C>T, NM_003626.5:c.360C>T, NM_003626.4:c.360C>T, NM_003626.3:c.360C>T, XM_006718716.4:c.360C>T, XM_006718716.3:c.360C>T, XM_006718716.2:c.360C>T, XM_006718716.1:c.360C>T, XM_011545307.4:c.360C>T, XM_011545307.3:c.360C>T, XM_011545307.2:c.360C>T, XM_011545307.1:c.360C>T, XM_011545308.4:c.360C>T, XM_011545308.3:c.360C>T, XM_011545308.2:c.360C>T, XM_011545308.1:c.360C>T, XM_011545310.4:c.360C>T, XM_011545310.3:c.360C>T, XM_011545310.2:c.360C>T, XM_011545310.1:c.360C>T, XM_011545311.4:c.360C>T, XM_011545311.3:c.360C>T, XM_011545311.2:c.360C>T, XM_011545311.1:c.360C>T, XM_011545306.4:c.360C>T, XM_011545306.3:c.360C>T, XM_011545306.2:c.360C>T, XM_011545306.1:c.360C>T, XM_011545314.4:c.360C>T, XM_011545314.3:c.360C>T, XM_011545314.2:c.360C>T, XM_011545314.1:c.360C>T, XM_011545309.3:c.360C>T, XM_011545309.2:c.360C>T, XM_011545309.1:c.360C>T, XM_011545312.3:c.360C>T, XM_011545312.2:c.360C>T, XM_011545312.1:c.360C>T, XM_011545315.3:c.360C>T, XM_011545315.2:c.360C>T, XM_011545315.1:c.360C>T, XM_011545316.3:c.360C>T, XM_011545316.2:c.360C>T, XM_011545316.1:c.360C>T, XM_011545317.3:c.360C>T, XM_011545317.2:c.360C>T, XM_011545317.1:c.360C>T, NR_045286.3:n.585C>T, NR_045286.2:n.585C>T, NR_045286.1:n.575C>T, NM_177423.3:c.360C>T, NM_177423.2:c.360C>T, XM_017018448.2:c.360C>T, XM_017018448.1:c.360C>T, XM_011545319.2:c.360C>T, XM_011545319.1:c.360C>T, NM_001378006.1:c.360C>T, XM_047427764.1:c.360C>T, XM_047427766.1:c.360C>T, XM_047427767.1:c.360C>T, XM_047427768.1:c.360C>T, XM_047427769.1:c.360C>T, XM_047427770.1:c.360C>T, XM_047427772.1:c.360C>T, XM_047427774.1:c.360C>T, XM_047427775.1:c.360C>T, XM_047427763.1:c.360C>T, XM_017018449.2:c.360C>T, XM_017018449.1:c.360C>T, XM_047427773.1:c.360C>T, XM_047427771.1:c.360C>T, XM_047427765.1:c.360C>T

              7.

              rs1483112303 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:70330299 (GRCh38)
                11:70176405 (GRCh37)
                Canonical SPDI:
                NC_000011.10:70330298:A:G
                Gene:
                PPFIA1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.70330299A>G, NC_000011.9:g.70176405A>G, NW_021160005.1:g.86120A>G, NM_003626.5:c.1057A>G, NM_003626.4:c.1057A>G, NM_003626.3:c.1057A>G, XM_006718716.4:c.1057A>G, XM_006718716.3:c.1057A>G, XM_006718716.2:c.1057A>G, XM_006718716.1:c.1057A>G, XM_011545307.4:c.1057A>G, XM_011545307.3:c.1057A>G, XM_011545307.2:c.1057A>G, XM_011545307.1:c.1057A>G, XM_011545308.4:c.1057A>G, XM_011545308.3:c.1057A>G, XM_011545308.2:c.1057A>G, XM_011545308.1:c.1057A>G, XM_011545310.4:c.1057A>G, XM_011545310.3:c.1057A>G, XM_011545310.2:c.1057A>G, XM_011545310.1:c.1057A>G, XM_011545311.4:c.1057A>G, XM_011545311.3:c.1057A>G, XM_011545311.2:c.1057A>G, XM_011545311.1:c.1057A>G, XM_011545306.4:c.1057A>G, XM_011545306.3:c.1057A>G, XM_011545306.2:c.1057A>G, XM_011545306.1:c.1057A>G, XM_011545314.4:c.1057A>G, XM_011545314.3:c.1057A>G, XM_011545314.2:c.1057A>G, XM_011545314.1:c.1057A>G, XM_011545309.3:c.1057A>G, XM_011545309.2:c.1057A>G, XM_011545309.1:c.1057A>G, XM_011545312.3:c.1057A>G, XM_011545312.2:c.1057A>G, XM_011545312.1:c.1057A>G, XM_011545315.3:c.1057A>G, XM_011545315.2:c.1057A>G, XM_011545315.1:c.1057A>G, XM_011545316.3:c.1057A>G, XM_011545316.2:c.1057A>G, XM_011545316.1:c.1057A>G, XM_011545317.3:c.1057A>G, XM_011545317.2:c.1057A>G, XM_011545317.1:c.1057A>G, NR_045286.3:n.1282A>G, NR_045286.2:n.1282A>G, NR_045286.1:n.1272A>G, NM_177423.3:c.1057A>G, NM_177423.2:c.1057A>G, XM_017018448.2:c.1057A>G, XM_017018448.1:c.1057A>G, XM_011545319.2:c.1057A>G, XM_011545319.1:c.1057A>G, NM_001378006.1:c.1057A>G, XM_047427764.1:c.1057A>G, XM_047427766.1:c.1057A>G, XM_047427767.1:c.1057A>G, XM_047427768.1:c.1057A>G, XM_047427769.1:c.1057A>G, XM_047427770.1:c.1057A>G, XM_047427772.1:c.1057A>G, XM_047427774.1:c.1057A>G, XM_047427775.1:c.1057A>G, XM_047427763.1:c.1057A>G, XM_017018449.2:c.1057A>G, XM_017018449.1:c.1057A>G, XM_047427773.1:c.1057A>G, XM_047427771.1:c.1057A>G, XM_047427765.1:c.1057A>G, NP_003617.1:p.Lys353Glu, XP_006718779.1:p.Lys353Glu, XP_011543609.1:p.Lys353Glu, XP_011543610.1:p.Lys353Glu, XP_011543612.1:p.Lys353Glu, XP_011543613.1:p.Lys353Glu, XP_011543608.1:p.Lys353Glu, XP_011543616.1:p.Lys353Glu, XP_011543611.1:p.Lys353Glu, XP_011543614.1:p.Lys353Glu, XP_011543617.1:p.Lys353Glu, XP_011543618.1:p.Lys353Glu, XP_011543619.1:p.Lys353Glu, NP_803172.1:p.Lys353Glu, XP_016873937.1:p.Lys353Glu, XP_011543621.1:p.Lys353Glu, NP_001364935.1:p.Lys353Glu, XP_047283720.1:p.Lys353Glu, XP_047283722.1:p.Lys353Glu, XP_047283723.1:p.Lys353Glu, XP_047283724.1:p.Lys353Glu, XP_047283725.1:p.Lys353Glu, XP_047283726.1:p.Lys353Glu, XP_047283728.1:p.Lys353Glu, XP_047283730.1:p.Lys353Glu, XP_047283731.1:p.Lys353Glu, XP_047283719.1:p.Lys353Glu, XP_016873938.1:p.Lys353Glu, XP_047283729.1:p.Lys353Glu, XP_047283727.1:p.Lys353Glu, XP_047283721.1:p.Lys353Glu

                8.

                rs1482089021 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  11:70343736 (GRCh38)
                  11:70189842 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:70343735:A:G
                  Gene:
                  PPFIA1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000011.10:g.70343736A>G, NC_000011.9:g.70189842A>G, NW_021160005.1:g.99557A>G, NM_003626.5:c.1775A>G, NM_003626.4:c.1775A>G, NM_003626.3:c.1775A>G, XM_006718716.4:c.1850A>G, XM_006718716.3:c.1850A>G, XM_006718716.2:c.1850A>G, XM_006718716.1:c.1850A>G, XM_011545307.4:c.1850A>G, XM_011545307.3:c.1850A>G, XM_011545307.2:c.1850A>G, XM_011545307.1:c.1850A>G, XM_011545308.4:c.1850A>G, XM_011545308.3:c.1850A>G, XM_011545308.2:c.1850A>G, XM_011545308.1:c.1850A>G, XM_011545310.4:c.1775A>G, XM_011545310.3:c.1775A>G, XM_011545310.2:c.1775A>G, XM_011545310.1:c.1775A>G, XM_011545311.4:c.1850A>G, XM_011545311.3:c.1850A>G, XM_011545311.2:c.1850A>G, XM_011545311.1:c.1850A>G, XM_011545306.4:c.1850A>G, XM_011545306.3:c.1850A>G, XM_011545306.2:c.1850A>G, XM_011545306.1:c.1850A>G, XM_011545314.4:c.1850A>G, XM_011545314.3:c.1850A>G, XM_011545314.2:c.1850A>G, XM_011545314.1:c.1850A>G, NM_177423.3:c.1775A>G, NM_177423.2:c.1775A>G, XM_011545309.3:c.1850A>G, XM_011545309.2:c.1850A>G, XM_011545309.1:c.1850A>G, XM_011545312.3:c.1850A>G, XM_011545312.2:c.1850A>G, XM_011545312.1:c.1850A>G, XM_011545315.3:c.1775A>G, XM_011545315.2:c.1775A>G, XM_011545315.1:c.1775A>G, XM_011545316.3:c.1850A>G, XM_011545316.2:c.1850A>G, XM_011545316.1:c.1850A>G, XM_011545317.3:c.1850A>G, XM_011545317.2:c.1850A>G, XM_011545317.1:c.1850A>G, NR_045286.3:n.1981A>G, NR_045286.2:n.1981A>G, NR_045286.1:n.1971A>G, XM_017018448.2:c.1850A>G, XM_017018448.1:c.1850A>G, XM_011545319.2:c.1775A>G, XM_011545319.1:c.1775A>G, XM_017018449.2:c.1775A>G, XM_017018449.1:c.1775A>G, NM_001378006.1:c.1850A>G, XM_047427764.1:c.1775A>G, XM_047427766.1:c.1775A>G, XM_047427767.1:c.1775A>G, XM_047427768.1:c.1775A>G, XM_047427769.1:c.1775A>G, XM_047427770.1:c.1850A>G, XM_047427771.1:c.1775A>G, XM_047427772.1:c.1850A>G, XM_047427773.1:c.1850A>G, XM_047427774.1:c.1775A>G, XM_047427775.1:c.1775A>G, XM_047427763.1:c.1850A>G, XM_047427776.1:c.158A>G, XM_047427765.1:c.1775A>G, NP_003617.1:p.Gln592Arg, XP_006718779.1:p.Gln617Arg, XP_011543609.1:p.Gln617Arg, XP_011543610.1:p.Gln617Arg, XP_011543612.1:p.Gln592Arg, XP_011543613.1:p.Gln617Arg, XP_011543608.1:p.Gln617Arg, XP_011543616.1:p.Gln617Arg, NP_803172.1:p.Gln592Arg, XP_011543611.1:p.Gln617Arg, XP_011543614.1:p.Gln617Arg, XP_011543617.1:p.Gln592Arg, XP_011543618.1:p.Gln617Arg, XP_011543619.1:p.Gln617Arg, XP_016873937.1:p.Gln617Arg, XP_011543621.1:p.Gln592Arg, XP_016873938.1:p.Gln592Arg, NP_001364935.1:p.Gln617Arg, XP_047283720.1:p.Gln592Arg, XP_047283722.1:p.Gln592Arg, XP_047283723.1:p.Gln592Arg, XP_047283724.1:p.Gln592Arg, XP_047283725.1:p.Gln592Arg, XP_047283726.1:p.Gln617Arg, XP_047283727.1:p.Gln592Arg, XP_047283728.1:p.Gln617Arg, XP_047283729.1:p.Gln617Arg, XP_047283730.1:p.Gln592Arg, XP_047283731.1:p.Gln592Arg, XP_047283719.1:p.Gln617Arg, XP_047283732.1:p.Gln53Arg, XP_047283721.1:p.Gln592Arg

                  9.

                  rs1480581888 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    11:70339175 (GRCh38)
                    11:70185281 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:70339174:C:A
                    Gene:
                    PPFIA1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.70339175C>A, NC_000011.9:g.70185281C>A, NW_021160005.1:g.94996C>A, NM_003626.5:c.1576C>A, NM_003626.4:c.1576C>A, NM_003626.3:c.1576C>A, XM_006718716.4:c.1651C>A, XM_006718716.3:c.1651C>A, XM_006718716.2:c.1651C>A, XM_006718716.1:c.1651C>A, XM_011545307.4:c.1651C>A, XM_011545307.3:c.1651C>A, XM_011545307.2:c.1651C>A, XM_011545307.1:c.1651C>A, XM_011545308.4:c.1651C>A, XM_011545308.3:c.1651C>A, XM_011545308.2:c.1651C>A, XM_011545308.1:c.1651C>A, XM_011545310.4:c.1576C>A, XM_011545310.3:c.1576C>A, XM_011545310.2:c.1576C>A, XM_011545310.1:c.1576C>A, XM_011545311.4:c.1651C>A, XM_011545311.3:c.1651C>A, XM_011545311.2:c.1651C>A, XM_011545311.1:c.1651C>A, XM_011545306.4:c.1651C>A, XM_011545306.3:c.1651C>A, XM_011545306.2:c.1651C>A, XM_011545306.1:c.1651C>A, XM_011545314.4:c.1651C>A, XM_011545314.3:c.1651C>A, XM_011545314.2:c.1651C>A, XM_011545314.1:c.1651C>A, XM_011545309.3:c.1651C>A, XM_011545309.2:c.1651C>A, XM_011545309.1:c.1651C>A, XM_011545312.3:c.1651C>A, XM_011545312.2:c.1651C>A, XM_011545312.1:c.1651C>A, XM_011545315.3:c.1576C>A, XM_011545315.2:c.1576C>A, XM_011545315.1:c.1576C>A, XM_011545316.3:c.1651C>A, XM_011545316.2:c.1651C>A, XM_011545316.1:c.1651C>A, XM_011545317.3:c.1651C>A, XM_011545317.2:c.1651C>A, XM_011545317.1:c.1651C>A, NR_045286.3:n.1782C>A, NR_045286.2:n.1782C>A, NR_045286.1:n.1772C>A, NM_177423.3:c.1576C>A, NM_177423.2:c.1576C>A, XM_017018448.2:c.1651C>A, XM_017018448.1:c.1651C>A, XM_011545319.2:c.1576C>A, XM_011545319.1:c.1576C>A, NM_001378006.1:c.1651C>A, XM_047427764.1:c.1576C>A, XM_047427766.1:c.1576C>A, XM_047427767.1:c.1576C>A, XM_047427768.1:c.1576C>A, XM_047427769.1:c.1576C>A, XM_047427770.1:c.1651C>A, XM_047427772.1:c.1651C>A, XM_047427774.1:c.1576C>A, XM_047427775.1:c.1576C>A, XM_047427763.1:c.1651C>A, XM_017018449.2:c.1576C>A, XM_017018449.1:c.1576C>A, XM_047427765.1:c.1576C>A, XM_047427771.1:c.1576C>A, XM_047427773.1:c.1651C>A, NP_003617.1:p.Pro526Thr, XP_006718779.1:p.Pro551Thr, XP_011543609.1:p.Pro551Thr, XP_011543610.1:p.Pro551Thr, XP_011543612.1:p.Pro526Thr, XP_011543613.1:p.Pro551Thr, XP_011543608.1:p.Pro551Thr, XP_011543616.1:p.Pro551Thr, XP_011543611.1:p.Pro551Thr, XP_011543614.1:p.Pro551Thr, XP_011543617.1:p.Pro526Thr, XP_011543618.1:p.Pro551Thr, XP_011543619.1:p.Pro551Thr, NP_803172.1:p.Pro526Thr, XP_016873937.1:p.Pro551Thr, XP_011543621.1:p.Pro526Thr, NP_001364935.1:p.Pro551Thr, XP_047283720.1:p.Pro526Thr, XP_047283722.1:p.Pro526Thr, XP_047283723.1:p.Pro526Thr, XP_047283724.1:p.Pro526Thr, XP_047283725.1:p.Pro526Thr, XP_047283726.1:p.Pro551Thr, XP_047283728.1:p.Pro551Thr, XP_047283730.1:p.Pro526Thr, XP_047283731.1:p.Pro526Thr, XP_047283719.1:p.Pro551Thr, XP_016873938.1:p.Pro526Thr, XP_047283721.1:p.Pro526Thr, XP_047283727.1:p.Pro526Thr, XP_047283729.1:p.Pro551Thr

                    10.

                    rs1479875408 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:70326349 (GRCh38)
                      11:70172455 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:70326348:A:G
                      Gene:
                      PPFIA1 (Varview), LOC105369373 (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.70326349A>G, NC_000011.9:g.70172455A>G, NW_021160005.1:g.82170A>G, NM_003626.5:c.694A>G, NM_003626.4:c.694A>G, NM_003626.3:c.694A>G, XM_006718716.4:c.694A>G, XM_006718716.3:c.694A>G, XM_006718716.2:c.694A>G, XM_006718716.1:c.694A>G, XM_011545308.4:c.694A>G, XM_011545308.3:c.694A>G, XM_011545308.2:c.694A>G, XM_011545308.1:c.694A>G, XM_011545307.4:c.694A>G, XM_011545307.3:c.694A>G, XM_011545307.2:c.694A>G, XM_011545307.1:c.694A>G, XM_011545311.4:c.694A>G, XM_011545311.3:c.694A>G, XM_011545311.2:c.694A>G, XM_011545311.1:c.694A>G, XM_011545317.3:c.694A>G, XM_011545317.2:c.694A>G, XM_011545317.1:c.694A>G, XM_011545310.4:c.694A>G, XM_011545310.3:c.694A>G, XM_011545310.2:c.694A>G, XM_011545310.1:c.694A>G, XM_011545306.4:c.694A>G, XM_011545306.3:c.694A>G, XM_011545306.2:c.694A>G, XM_011545306.1:c.694A>G, XM_011545314.4:c.694A>G, XM_011545314.3:c.694A>G, XM_011545314.2:c.694A>G, XM_011545314.1:c.694A>G, XM_011545309.3:c.694A>G, XM_011545309.2:c.694A>G, XM_011545309.1:c.694A>G, XM_011545312.3:c.694A>G, XM_011545312.2:c.694A>G, XM_011545312.1:c.694A>G, XM_011545315.3:c.694A>G, XM_011545315.2:c.694A>G, XM_011545315.1:c.694A>G, XM_011545316.3:c.694A>G, XM_011545316.2:c.694A>G, XM_011545316.1:c.694A>G, NR_045286.3:n.919A>G, NR_045286.2:n.919A>G, NR_045286.1:n.909A>G, NM_177423.3:c.694A>G, NM_177423.2:c.694A>G, XM_011545319.2:c.694A>G, XM_011545319.1:c.694A>G, XM_017018449.2:c.694A>G, XM_017018449.1:c.694A>G, XM_047427765.1:c.694A>G, XM_047427764.1:c.694A>G, XM_047427766.1:c.694A>G, XM_047427767.1:c.694A>G, XM_047427768.1:c.694A>G, XM_047427769.1:c.694A>G, XM_047427770.1:c.694A>G, XM_047427772.1:c.694A>G, XM_047427773.1:c.694A>G, XM_047427774.1:c.694A>G, XM_047427763.1:c.694A>G, XM_017018448.2:c.694A>G, XM_017018448.1:c.694A>G, NM_001378006.1:c.694A>G, XM_047427775.1:c.694A>G, XM_047427771.1:c.694A>G, NP_003617.1:p.Ser232Gly, XP_006718779.1:p.Ser232Gly, XP_011543610.1:p.Ser232Gly, XP_011543609.1:p.Ser232Gly, XP_011543613.1:p.Ser232Gly, XP_011543619.1:p.Ser232Gly, XP_011543612.1:p.Ser232Gly, XP_011543608.1:p.Ser232Gly, XP_011543616.1:p.Ser232Gly, XP_011543611.1:p.Ser232Gly, XP_011543614.1:p.Ser232Gly, XP_011543617.1:p.Ser232Gly, XP_011543618.1:p.Ser232Gly, NP_803172.1:p.Ser232Gly, XP_011543621.1:p.Ser232Gly, XP_016873938.1:p.Ser232Gly, XP_047283721.1:p.Ser232Gly, XP_047283720.1:p.Ser232Gly, XP_047283722.1:p.Ser232Gly, XP_047283723.1:p.Ser232Gly, XP_047283724.1:p.Ser232Gly, XP_047283725.1:p.Ser232Gly, XP_047283726.1:p.Ser232Gly, XP_047283728.1:p.Ser232Gly, XP_047283729.1:p.Ser232Gly, XP_047283730.1:p.Ser232Gly, XP_047283719.1:p.Ser232Gly, XP_016873937.1:p.Ser232Gly, NP_001364935.1:p.Ser232Gly, XP_047283731.1:p.Ser232Gly, XP_047283727.1:p.Ser232Gly

                      11.

                      rs1478582666 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:70378134 (GRCh38)
                        11:70224240 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:70378133:C:T
                        Gene:
                        PPFIA1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000011.10:g.70378134C>T, NC_000011.9:g.70224240C>T, NW_021160005.1:g.139422C>T, NM_003626.5:c.3489C>T, NM_003626.4:c.3489C>T, NM_003626.3:c.3489C>T, XM_006718716.4:c.3801C>T, XM_006718716.3:c.3801C>T, XM_006718716.2:c.3801C>T, XM_006718716.1:c.3801C>T, XM_011545308.4:c.3771C>T, XM_011545308.3:c.3771C>T, XM_011545308.2:c.3771C>T, XM_011545308.1:c.3771C>T, XM_011545307.4:c.3774C>T, XM_011545307.3:c.3774C>T, XM_011545307.2:c.3774C>T, XM_011545307.1:c.3774C>T, XM_011545311.4:c.3714C>T, XM_011545311.3:c.3714C>T, XM_011545311.2:c.3714C>T, XM_011545311.1:c.3714C>T, XM_011545317.3:c.3564C>T, XM_011545317.2:c.3564C>T, XM_011545317.1:c.3564C>T, XM_011545310.4:c.3726C>T, XM_011545310.3:c.3726C>T, XM_011545310.2:c.3726C>T, XM_011545310.1:c.3726C>T, XM_011545306.4:c.3801C>T, XM_011545306.3:c.3801C>T, XM_011545306.2:c.3801C>T, XM_011545306.1:c.3801C>T, XM_011545314.4:c.3654C>T, XM_011545314.3:c.3654C>T, XM_011545314.2:c.3654C>T, XM_011545314.1:c.3654C>T, XM_011545309.3:c.3801C>T, XM_011545309.2:c.3801C>T, XM_011545309.1:c.3801C>T, XM_011545312.3:c.3711C>T, XM_011545312.2:c.3711C>T, XM_011545312.1:c.3711C>T, XM_011545315.3:c.3609C>T, XM_011545315.2:c.3609C>T, XM_011545315.1:c.3609C>T, XM_011545316.3:c.3594C>T, XM_011545316.2:c.3594C>T, XM_011545316.1:c.3594C>T, NR_045286.3:n.3725C>T, NR_045286.2:n.3725C>T, NR_045286.1:n.3715C>T, NM_177423.3:c.3489C>T, NM_177423.2:c.3489C>T, XM_017018448.2:c.3681C>T, XM_017018448.1:c.3681C>T, XM_011545319.2:c.3582C>T, XM_011545319.1:c.3582C>T, XM_017018449.2:c.3519C>T, XM_017018449.1:c.3519C>T, XM_047427765.1:c.3696C>T, NM_001378006.1:c.3684C>T, XM_047427764.1:c.3726C>T, XM_047427766.1:c.3636C>T, XM_047427767.1:c.3609C>T, XM_047427768.1:c.3606C>T, XM_047427769.1:c.3579C>T, XM_047427770.1:c.3567C>T, XM_047427771.1:c.3552C>T, XM_047427772.1:c.3567C>T, XM_047427773.1:c.3564C>T, XM_047427774.1:c.3492C>T, XM_047427775.1:c.3489C>T, XM_047427763.1:c.3801C>T, XM_047427776.1:c.2109C>T

                        12.

                        rs1475495318 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          11:70372267 (GRCh38)
                          11:70218373 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:70372266:C:T
                          Gene:
                          PPFIA1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.70372267C>T, NC_000011.9:g.70218373C>T, NW_021160005.1:g.133555C>T, NM_003626.5:c.2918C>T, NM_003626.4:c.2918C>T, NM_003626.3:c.2918C>T, XM_006718716.4:c.3230C>T, XM_006718716.3:c.3230C>T, XM_006718716.2:c.3230C>T, XM_006718716.1:c.3230C>T, XM_011545307.4:c.3203C>T, XM_011545307.3:c.3203C>T, XM_011545307.2:c.3203C>T, XM_011545307.1:c.3203C>T, XM_011545308.4:c.3200C>T, XM_011545308.3:c.3200C>T, XM_011545308.2:c.3200C>T, XM_011545308.1:c.3200C>T, XM_011545310.4:c.3155C>T, XM_011545310.3:c.3155C>T, XM_011545310.2:c.3155C>T, XM_011545310.1:c.3155C>T, XM_011545311.4:c.3143C>T, XM_011545311.3:c.3143C>T, XM_011545311.2:c.3143C>T, XM_011545311.1:c.3143C>T, XM_011545306.4:c.3230C>T, XM_011545306.3:c.3230C>T, XM_011545306.2:c.3230C>T, XM_011545306.1:c.3230C>T, XM_011545314.4:c.3083C>T, XM_011545314.3:c.3083C>T, XM_011545314.2:c.3083C>T, XM_011545314.1:c.3083C>T, XM_011545309.3:c.3230C>T, XM_011545309.2:c.3230C>T, XM_011545309.1:c.3230C>T, XM_011545312.3:c.3140C>T, XM_011545312.2:c.3140C>T, XM_011545312.1:c.3140C>T, XM_011545315.3:c.3038C>T, XM_011545315.2:c.3038C>T, XM_011545315.1:c.3038C>T, XM_011545316.3:c.3023C>T, XM_011545316.2:c.3023C>T, XM_011545316.1:c.3023C>T, XM_011545317.3:c.2993C>T, XM_011545317.2:c.2993C>T, XM_011545317.1:c.2993C>T, NR_045286.3:n.3154C>T, NR_045286.2:n.3154C>T, NR_045286.1:n.3144C>T, NM_177423.3:c.2918C>T, NM_177423.2:c.2918C>T, XM_017018448.2:c.3110C>T, XM_017018448.1:c.3110C>T, XM_011545319.2:c.3011C>T, XM_011545319.1:c.3011C>T, XM_017018449.2:c.2948C>T, XM_017018449.1:c.2948C>T, XR_001748289.2:n.3740G>A, XR_001748289.1:n.124G>A, XM_047427765.1:c.3125C>T, XM_047427764.1:c.3155C>T, XM_047427766.1:c.3065C>T, XM_047427769.1:c.3008C>T, XM_047427770.1:c.2996C>T, XM_047427771.1:c.2981C>T, XM_047427772.1:c.2996C>T, XM_047427773.1:c.2993C>T, XM_047427774.1:c.2921C>T, XM_047427775.1:c.2918C>T, XM_047427763.1:c.3230C>T, XM_047427776.1:c.1538C>T, NM_001378006.1:c.3113C>T, XM_047427768.1:c.3035C>T, XM_047427767.1:c.3038C>T, NP_003617.1:p.Pro973Leu, XP_006718779.1:p.Pro1077Leu, XP_011543609.1:p.Pro1068Leu, XP_011543610.1:p.Pro1067Leu, XP_011543612.1:p.Pro1052Leu, XP_011543613.1:p.Pro1048Leu, XP_011543608.1:p.Pro1077Leu, XP_011543616.1:p.Pro1028Leu, XP_011543611.1:p.Pro1077Leu, XP_011543614.1:p.Pro1047Leu, XP_011543617.1:p.Pro1013Leu, XP_011543618.1:p.Pro1008Leu, XP_011543619.1:p.Pro998Leu, NP_803172.1:p.Pro973Leu, XP_016873937.1:p.Pro1037Leu, XP_011543621.1:p.Pro1004Leu, XP_016873938.1:p.Pro983Leu, XP_047283721.1:p.Pro1042Leu, XP_047283720.1:p.Pro1052Leu, XP_047283722.1:p.Pro1022Leu, XP_047283725.1:p.Pro1003Leu, XP_047283726.1:p.Pro999Leu, XP_047283727.1:p.Pro994Leu, XP_047283728.1:p.Pro999Leu, XP_047283729.1:p.Pro998Leu, XP_047283730.1:p.Pro974Leu, XP_047283731.1:p.Pro973Leu, XP_047283719.1:p.Pro1077Leu, XP_047283732.1:p.Pro513Leu, NP_001364935.1:p.Pro1038Leu, XP_047283724.1:p.Pro1012Leu, XP_047283723.1:p.Pro1013Leu

                          13.

                          rs1475030811 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            11:70348328 (GRCh38)
                            11:70194434 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:70348327:A:G
                            Gene:
                            PPFIA1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0.000047/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.70348328A>G, NC_000011.9:g.70194434A>G, NW_021160005.1:g.104149A>G, NM_003626.5:c.2071A>G, NM_003626.4:c.2071A>G, NM_003626.3:c.2071A>G, XM_006718716.4:c.2146A>G, XM_006718716.3:c.2146A>G, XM_006718716.2:c.2146A>G, XM_006718716.1:c.2146A>G, XM_011545307.4:c.2146A>G, XM_011545307.3:c.2146A>G, XM_011545307.2:c.2146A>G, XM_011545307.1:c.2146A>G, XM_011545308.4:c.2146A>G, XM_011545308.3:c.2146A>G, XM_011545308.2:c.2146A>G, XM_011545308.1:c.2146A>G, XM_011545310.4:c.2071A>G, XM_011545310.3:c.2071A>G, XM_011545310.2:c.2071A>G, XM_011545310.1:c.2071A>G, XM_011545311.4:c.2146A>G, XM_011545311.3:c.2146A>G, XM_011545311.2:c.2146A>G, XM_011545311.1:c.2146A>G, XM_011545306.4:c.2146A>G, XM_011545306.3:c.2146A>G, XM_011545306.2:c.2146A>G, XM_011545306.1:c.2146A>G, XM_011545314.4:c.2146A>G, XM_011545314.3:c.2146A>G, XM_011545314.2:c.2146A>G, XM_011545314.1:c.2146A>G, NM_177423.3:c.2071A>G, NM_177423.2:c.2071A>G, XM_011545309.3:c.2146A>G, XM_011545309.2:c.2146A>G, XM_011545309.1:c.2146A>G, XM_011545312.3:c.2146A>G, XM_011545312.2:c.2146A>G, XM_011545312.1:c.2146A>G, XM_011545315.3:c.2071A>G, XM_011545315.2:c.2071A>G, XM_011545315.1:c.2071A>G, XM_011545316.3:c.2146A>G, XM_011545316.2:c.2146A>G, XM_011545316.1:c.2146A>G, XM_011545317.3:c.2146A>G, XM_011545317.2:c.2146A>G, XM_011545317.1:c.2146A>G, NR_045286.3:n.2277A>G, NR_045286.2:n.2277A>G, NR_045286.1:n.2267A>G, XM_017018448.2:c.2146A>G, XM_017018448.1:c.2146A>G, XM_011545319.2:c.2071A>G, XM_011545319.1:c.2071A>G, XM_017018449.2:c.2071A>G, XM_017018449.1:c.2071A>G, NM_001378006.1:c.2146A>G, XM_047427764.1:c.2071A>G, XM_047427766.1:c.2071A>G, XM_047427767.1:c.2071A>G, XM_047427768.1:c.2071A>G, XM_047427769.1:c.2071A>G, XM_047427770.1:c.2146A>G, XM_047427771.1:c.2071A>G, XM_047427772.1:c.2146A>G, XM_047427773.1:c.2146A>G, XM_047427774.1:c.2071A>G, XM_047427775.1:c.2071A>G, XM_047427763.1:c.2146A>G, XM_047427776.1:c.454A>G, XM_047427765.1:c.2071A>G, NP_003617.1:p.Ser691Gly, XP_006718779.1:p.Ser716Gly, XP_011543609.1:p.Ser716Gly, XP_011543610.1:p.Ser716Gly, XP_011543612.1:p.Ser691Gly, XP_011543613.1:p.Ser716Gly, XP_011543608.1:p.Ser716Gly, XP_011543616.1:p.Ser716Gly, NP_803172.1:p.Ser691Gly, XP_011543611.1:p.Ser716Gly, XP_011543614.1:p.Ser716Gly, XP_011543617.1:p.Ser691Gly, XP_011543618.1:p.Ser716Gly, XP_011543619.1:p.Ser716Gly, XP_016873937.1:p.Ser716Gly, XP_011543621.1:p.Ser691Gly, XP_016873938.1:p.Ser691Gly, NP_001364935.1:p.Ser716Gly, XP_047283720.1:p.Ser691Gly, XP_047283722.1:p.Ser691Gly, XP_047283723.1:p.Ser691Gly, XP_047283724.1:p.Ser691Gly, XP_047283725.1:p.Ser691Gly, XP_047283726.1:p.Ser716Gly, XP_047283727.1:p.Ser691Gly, XP_047283728.1:p.Ser716Gly, XP_047283729.1:p.Ser716Gly, XP_047283730.1:p.Ser691Gly, XP_047283731.1:p.Ser691Gly, XP_047283719.1:p.Ser716Gly, XP_047283732.1:p.Ser152Gly, XP_047283721.1:p.Ser691Gly

                            14.

                            rs1474254976 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:70330179 (GRCh38)
                              11:70176285 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:70330178:G:A
                              Gene:
                              PPFIA1 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000011.10:g.70330179G>A, NC_000011.9:g.70176285G>A, NW_021160005.1:g.86000G>A, NM_003626.5:c.937G>A, NM_003626.4:c.937G>A, NM_003626.3:c.937G>A, XM_006718716.4:c.937G>A, XM_006718716.3:c.937G>A, XM_006718716.2:c.937G>A, XM_006718716.1:c.937G>A, XM_011545307.4:c.937G>A, XM_011545307.3:c.937G>A, XM_011545307.2:c.937G>A, XM_011545307.1:c.937G>A, XM_011545308.4:c.937G>A, XM_011545308.3:c.937G>A, XM_011545308.2:c.937G>A, XM_011545308.1:c.937G>A, XM_011545310.4:c.937G>A, XM_011545310.3:c.937G>A, XM_011545310.2:c.937G>A, XM_011545310.1:c.937G>A, XM_011545311.4:c.937G>A, XM_011545311.3:c.937G>A, XM_011545311.2:c.937G>A, XM_011545311.1:c.937G>A, XM_011545306.4:c.937G>A, XM_011545306.3:c.937G>A, XM_011545306.2:c.937G>A, XM_011545306.1:c.937G>A, XM_011545314.4:c.937G>A, XM_011545314.3:c.937G>A, XM_011545314.2:c.937G>A, XM_011545314.1:c.937G>A, XM_011545309.3:c.937G>A, XM_011545309.2:c.937G>A, XM_011545309.1:c.937G>A, XM_011545312.3:c.937G>A, XM_011545312.2:c.937G>A, XM_011545312.1:c.937G>A, XM_011545315.3:c.937G>A, XM_011545315.2:c.937G>A, XM_011545315.1:c.937G>A, XM_011545316.3:c.937G>A, XM_011545316.2:c.937G>A, XM_011545316.1:c.937G>A, XM_011545317.3:c.937G>A, XM_011545317.2:c.937G>A, XM_011545317.1:c.937G>A, NR_045286.3:n.1162G>A, NR_045286.2:n.1162G>A, NR_045286.1:n.1152G>A, NM_177423.3:c.937G>A, NM_177423.2:c.937G>A, XM_017018448.2:c.937G>A, XM_017018448.1:c.937G>A, XM_011545319.2:c.937G>A, XM_011545319.1:c.937G>A, NM_001378006.1:c.937G>A, XM_047427764.1:c.937G>A, XM_047427766.1:c.937G>A, XM_047427767.1:c.937G>A, XM_047427768.1:c.937G>A, XM_047427769.1:c.937G>A, XM_047427770.1:c.937G>A, XM_047427772.1:c.937G>A, XM_047427774.1:c.937G>A, XM_047427775.1:c.937G>A, XM_047427763.1:c.937G>A, XM_017018449.2:c.937G>A, XM_017018449.1:c.937G>A, XM_047427765.1:c.937G>A, XM_047427771.1:c.937G>A, XM_047427773.1:c.937G>A, NP_003617.1:p.Ala313Thr, XP_006718779.1:p.Ala313Thr, XP_011543609.1:p.Ala313Thr, XP_011543610.1:p.Ala313Thr, XP_011543612.1:p.Ala313Thr, XP_011543613.1:p.Ala313Thr, XP_011543608.1:p.Ala313Thr, XP_011543616.1:p.Ala313Thr, XP_011543611.1:p.Ala313Thr, XP_011543614.1:p.Ala313Thr, XP_011543617.1:p.Ala313Thr, XP_011543618.1:p.Ala313Thr, XP_011543619.1:p.Ala313Thr, NP_803172.1:p.Ala313Thr, XP_016873937.1:p.Ala313Thr, XP_011543621.1:p.Ala313Thr, NP_001364935.1:p.Ala313Thr, XP_047283720.1:p.Ala313Thr, XP_047283722.1:p.Ala313Thr, XP_047283723.1:p.Ala313Thr, XP_047283724.1:p.Ala313Thr, XP_047283725.1:p.Ala313Thr, XP_047283726.1:p.Ala313Thr, XP_047283728.1:p.Ala313Thr, XP_047283730.1:p.Ala313Thr, XP_047283731.1:p.Ala313Thr, XP_047283719.1:p.Ala313Thr, XP_016873938.1:p.Ala313Thr, XP_047283721.1:p.Ala313Thr, XP_047283727.1:p.Ala313Thr, XP_047283729.1:p.Ala313Thr

                              15.

                              rs1473146007 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                11:70348267 (GRCh38)
                                11:70194373 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:70348266:C:T
                                Gene:
                                PPFIA1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.70348267C>T, NC_000011.9:g.70194373C>T, NW_021160005.1:g.104088C>T, NM_003626.5:c.2010C>T, NM_003626.4:c.2010C>T, NM_003626.3:c.2010C>T, XM_006718716.4:c.2085C>T, XM_006718716.3:c.2085C>T, XM_006718716.2:c.2085C>T, XM_006718716.1:c.2085C>T, XM_011545307.4:c.2085C>T, XM_011545307.3:c.2085C>T, XM_011545307.2:c.2085C>T, XM_011545307.1:c.2085C>T, XM_011545308.4:c.2085C>T, XM_011545308.3:c.2085C>T, XM_011545308.2:c.2085C>T, XM_011545308.1:c.2085C>T, XM_011545310.4:c.2010C>T, XM_011545310.3:c.2010C>T, XM_011545310.2:c.2010C>T, XM_011545310.1:c.2010C>T, XM_011545311.4:c.2085C>T, XM_011545311.3:c.2085C>T, XM_011545311.2:c.2085C>T, XM_011545311.1:c.2085C>T, XM_011545306.4:c.2085C>T, XM_011545306.3:c.2085C>T, XM_011545306.2:c.2085C>T, XM_011545306.1:c.2085C>T, XM_011545314.4:c.2085C>T, XM_011545314.3:c.2085C>T, XM_011545314.2:c.2085C>T, XM_011545314.1:c.2085C>T, NM_177423.3:c.2010C>T, NM_177423.2:c.2010C>T, XM_011545309.3:c.2085C>T, XM_011545309.2:c.2085C>T, XM_011545309.1:c.2085C>T, XM_011545312.3:c.2085C>T, XM_011545312.2:c.2085C>T, XM_011545312.1:c.2085C>T, XM_011545315.3:c.2010C>T, XM_011545315.2:c.2010C>T, XM_011545315.1:c.2010C>T, XM_011545316.3:c.2085C>T, XM_011545316.2:c.2085C>T, XM_011545316.1:c.2085C>T, XM_011545317.3:c.2085C>T, XM_011545317.2:c.2085C>T, XM_011545317.1:c.2085C>T, NR_045286.3:n.2216C>T, NR_045286.2:n.2216C>T, NR_045286.1:n.2206C>T, XM_017018448.2:c.2085C>T, XM_017018448.1:c.2085C>T, XM_011545319.2:c.2010C>T, XM_011545319.1:c.2010C>T, XM_017018449.2:c.2010C>T, XM_017018449.1:c.2010C>T, NM_001378006.1:c.2085C>T, XM_047427764.1:c.2010C>T, XM_047427766.1:c.2010C>T, XM_047427767.1:c.2010C>T, XM_047427768.1:c.2010C>T, XM_047427769.1:c.2010C>T, XM_047427770.1:c.2085C>T, XM_047427771.1:c.2010C>T, XM_047427772.1:c.2085C>T, XM_047427773.1:c.2085C>T, XM_047427774.1:c.2010C>T, XM_047427775.1:c.2010C>T, XM_047427763.1:c.2085C>T, XM_047427776.1:c.393C>T, XM_047427765.1:c.2010C>T

                                16.

                                rs1472421200 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  11:70372335 (GRCh38)
                                  11:70218441 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:70372334:C:A,NC_000011.10:70372334:C:T
                                  Gene:
                                  PPFIA1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000011.10:g.70372335C>A, NC_000011.10:g.70372335C>T, NC_000011.9:g.70218441C>A, NC_000011.9:g.70218441C>T, NW_021160005.1:g.133623C>A, NW_021160005.1:g.133623C>T, NM_003626.5:c.2986C>A, NM_003626.5:c.2986C>T, NM_003626.4:c.2986C>A, NM_003626.4:c.2986C>T, NM_003626.3:c.2986C>A, NM_003626.3:c.2986C>T, XM_006718716.4:c.3298C>A, XM_006718716.4:c.3298C>T, XM_006718716.3:c.3298C>A, XM_006718716.3:c.3298C>T, XM_006718716.2:c.3298C>A, XM_006718716.2:c.3298C>T, XM_006718716.1:c.3298C>A, XM_006718716.1:c.3298C>T, XM_011545308.4:c.3268C>A, XM_011545308.4:c.3268C>T, XM_011545308.3:c.3268C>A, XM_011545308.3:c.3268C>T, XM_011545308.2:c.3268C>A, XM_011545308.2:c.3268C>T, XM_011545308.1:c.3268C>A, XM_011545308.1:c.3268C>T, XM_011545307.4:c.3271C>A, XM_011545307.4:c.3271C>T, XM_011545307.3:c.3271C>A, XM_011545307.3:c.3271C>T, XM_011545307.2:c.3271C>A, XM_011545307.2:c.3271C>T, XM_011545307.1:c.3271C>A, XM_011545307.1:c.3271C>T, XM_011545311.4:c.3211C>A, XM_011545311.4:c.3211C>T, XM_011545311.3:c.3211C>A, XM_011545311.3:c.3211C>T, XM_011545311.2:c.3211C>A, XM_011545311.2:c.3211C>T, XM_011545311.1:c.3211C>A, XM_011545311.1:c.3211C>T, XM_011545317.3:c.3061C>A, XM_011545317.3:c.3061C>T, XM_011545317.2:c.3061C>A, XM_011545317.2:c.3061C>T, XM_011545317.1:c.3061C>A, XM_011545317.1:c.3061C>T, XM_011545310.4:c.3223C>A, XM_011545310.4:c.3223C>T, XM_011545310.3:c.3223C>A, XM_011545310.3:c.3223C>T, XM_011545310.2:c.3223C>A, XM_011545310.2:c.3223C>T, XM_011545310.1:c.3223C>A, XM_011545310.1:c.3223C>T, XM_011545306.4:c.3298C>A, XM_011545306.4:c.3298C>T, XM_011545306.3:c.3298C>A, XM_011545306.3:c.3298C>T, XM_011545306.2:c.3298C>A, XM_011545306.2:c.3298C>T, XM_011545306.1:c.3298C>A, XM_011545306.1:c.3298C>T, XM_011545314.4:c.3151C>A, XM_011545314.4:c.3151C>T, XM_011545314.3:c.3151C>A, XM_011545314.3:c.3151C>T, XM_011545314.2:c.3151C>A, XM_011545314.2:c.3151C>T, XM_011545314.1:c.3151C>A, XM_011545314.1:c.3151C>T, XM_011545309.3:c.3298C>A, XM_011545309.3:c.3298C>T, XM_011545309.2:c.3298C>A, XM_011545309.2:c.3298C>T, XM_011545309.1:c.3298C>A, XM_011545309.1:c.3298C>T, XM_011545312.3:c.3208C>A, XM_011545312.3:c.3208C>T, XM_011545312.2:c.3208C>A, XM_011545312.2:c.3208C>T, XM_011545312.1:c.3208C>A, XM_011545312.1:c.3208C>T, XM_011545315.3:c.3106C>A, XM_011545315.3:c.3106C>T, XM_011545315.2:c.3106C>A, XM_011545315.2:c.3106C>T, XM_011545315.1:c.3106C>A, XM_011545315.1:c.3106C>T, XM_011545316.3:c.3091C>A, XM_011545316.3:c.3091C>T, XM_011545316.2:c.3091C>A, XM_011545316.2:c.3091C>T, XM_011545316.1:c.3091C>A, XM_011545316.1:c.3091C>T, NR_045286.3:n.3222C>A, NR_045286.3:n.3222C>T, NR_045286.2:n.3222C>A, NR_045286.2:n.3222C>T, NR_045286.1:n.3212C>A, NR_045286.1:n.3212C>T, NM_177423.3:c.2986C>A, NM_177423.3:c.2986C>T, NM_177423.2:c.2986C>A, NM_177423.2:c.2986C>T, XM_017018448.2:c.3178C>A, XM_017018448.2:c.3178C>T, XM_017018448.1:c.3178C>A, XM_017018448.1:c.3178C>T, XM_011545319.2:c.3079C>A, XM_011545319.2:c.3079C>T, XM_011545319.1:c.3079C>A, XM_011545319.1:c.3079C>T, XM_017018449.2:c.3016C>A, XM_017018449.2:c.3016C>T, XM_017018449.1:c.3016C>A, XM_017018449.1:c.3016C>T, XR_001748289.2:n.3672G>T, XR_001748289.2:n.3672G>A, XR_001748289.1:n.56G>T, XR_001748289.1:n.56G>A, XM_047427765.1:c.3193C>A, XM_047427765.1:c.3193C>T, NM_001378006.1:c.3181C>A, NM_001378006.1:c.3181C>T, XM_047427764.1:c.3223C>A, XM_047427764.1:c.3223C>T, XM_047427767.1:c.3106C>A, XM_047427767.1:c.3106C>T, XM_047427768.1:c.3103C>A, XM_047427768.1:c.3103C>T, XM_047427769.1:c.3076C>A, XM_047427769.1:c.3076C>T, XM_047427770.1:c.3064C>A, XM_047427770.1:c.3064C>T, XM_047427771.1:c.3049C>A, XM_047427771.1:c.3049C>T, XM_047427772.1:c.3064C>A, XM_047427772.1:c.3064C>T, XM_047427775.1:c.2986C>A, XM_047427775.1:c.2986C>T, XM_047427776.1:c.1606C>A, XM_047427776.1:c.1606C>T, XM_047427763.1:c.3298C>A, XM_047427763.1:c.3298C>T, XM_047427773.1:c.3061C>A, XM_047427773.1:c.3061C>T, XM_047427766.1:c.3133C>A, XM_047427766.1:c.3133C>T, XM_047427774.1:c.2989C>A, XM_047427774.1:c.2989C>T, NP_003617.1:p.His996Asn, NP_003617.1:p.His996Tyr, XP_006718779.1:p.His1100Asn, XP_006718779.1:p.His1100Tyr, XP_011543610.1:p.His1090Asn, XP_011543610.1:p.His1090Tyr, XP_011543609.1:p.His1091Asn, XP_011543609.1:p.His1091Tyr, XP_011543613.1:p.His1071Asn, XP_011543613.1:p.His1071Tyr, XP_011543619.1:p.His1021Asn, XP_011543619.1:p.His1021Tyr, XP_011543612.1:p.His1075Asn, XP_011543612.1:p.His1075Tyr, XP_011543608.1:p.His1100Asn, XP_011543608.1:p.His1100Tyr, XP_011543616.1:p.His1051Asn, XP_011543616.1:p.His1051Tyr, XP_011543611.1:p.His1100Asn, XP_011543611.1:p.His1100Tyr, XP_011543614.1:p.His1070Asn, XP_011543614.1:p.His1070Tyr, XP_011543617.1:p.His1036Asn, XP_011543617.1:p.His1036Tyr, XP_011543618.1:p.His1031Asn, XP_011543618.1:p.His1031Tyr, NP_803172.1:p.His996Asn, NP_803172.1:p.His996Tyr, XP_016873937.1:p.His1060Asn, XP_016873937.1:p.His1060Tyr, XP_011543621.1:p.His1027Asn, XP_011543621.1:p.His1027Tyr, XP_016873938.1:p.His1006Asn, XP_016873938.1:p.His1006Tyr, XP_047283721.1:p.His1065Asn, XP_047283721.1:p.His1065Tyr, NP_001364935.1:p.His1061Asn, NP_001364935.1:p.His1061Tyr, XP_047283720.1:p.His1075Asn, XP_047283720.1:p.His1075Tyr, XP_047283723.1:p.His1036Asn, XP_047283723.1:p.His1036Tyr, XP_047283724.1:p.His1035Asn, XP_047283724.1:p.His1035Tyr, XP_047283725.1:p.His1026Asn, XP_047283725.1:p.His1026Tyr, XP_047283726.1:p.His1022Asn, XP_047283726.1:p.His1022Tyr, XP_047283727.1:p.His1017Asn, XP_047283727.1:p.His1017Tyr, XP_047283728.1:p.His1022Asn, XP_047283728.1:p.His1022Tyr, XP_047283731.1:p.His996Asn, XP_047283731.1:p.His996Tyr, XP_047283732.1:p.His536Asn, XP_047283732.1:p.His536Tyr, XP_047283719.1:p.His1100Asn, XP_047283719.1:p.His1100Tyr, XP_047283729.1:p.His1021Asn, XP_047283729.1:p.His1021Tyr, XP_047283722.1:p.His1045Asn, XP_047283722.1:p.His1045Tyr, XP_047283730.1:p.His997Asn, XP_047283730.1:p.His997Tyr

                                  17.

                                  rs1471404364 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    11:70362445 (GRCh38)
                                    11:70208551 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:70362444:T:G
                                    Gene:
                                    PPFIA1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.70362445T>G, NC_000011.9:g.70208551T>G, NW_021160005.1:g.118266T>G, NM_003626.5:c.2822T>G, NM_003626.4:c.2822T>G, NM_003626.3:c.2822T>G, XM_006718716.4:c.3044T>G, XM_006718716.3:c.3044T>G, XM_006718716.2:c.3044T>G, XM_006718716.1:c.3044T>G, XM_011545307.4:c.3044T>G, XM_011545307.3:c.3044T>G, XM_011545307.2:c.3044T>G, XM_011545307.1:c.3044T>G, XM_011545308.4:c.3014T>G, XM_011545308.3:c.3014T>G, XM_011545308.2:c.3014T>G, XM_011545308.1:c.3014T>G, XM_011545310.4:c.2969T>G, XM_011545310.3:c.2969T>G, XM_011545310.2:c.2969T>G, XM_011545310.1:c.2969T>G, XM_011545311.4:c.3044T>G, XM_011545311.3:c.3044T>G, XM_011545311.2:c.3044T>G, XM_011545311.1:c.3044T>G, XM_011545306.4:c.3044T>G, XM_011545306.3:c.3044T>G, XM_011545306.2:c.3044T>G, XM_011545306.1:c.3044T>G, XM_011545314.4:c.2897T>G, XM_011545314.3:c.2897T>G, XM_011545314.2:c.2897T>G, XM_011545314.1:c.2897T>G, NM_177423.3:c.2822T>G, NM_177423.2:c.2822T>G, XM_011545309.3:c.3044T>G, XM_011545309.2:c.3044T>G, XM_011545309.1:c.3044T>G, XM_011545312.3:c.3044T>G, XM_011545312.2:c.3044T>G, XM_011545312.1:c.3044T>G, XM_011545315.3:c.2852T>G, XM_011545315.2:c.2852T>G, XM_011545315.1:c.2852T>G, XM_011545316.3:c.2927T>G, XM_011545316.2:c.2927T>G, XM_011545316.1:c.2927T>G, XM_011545317.3:c.2897T>G, XM_011545317.2:c.2897T>G, XM_011545317.1:c.2897T>G, NR_045286.3:n.3058T>G, NR_045286.2:n.3058T>G, NR_045286.1:n.3048T>G, XM_017018448.2:c.3014T>G, XM_017018448.1:c.3014T>G, XM_011545319.2:c.2852T>G, XM_011545319.1:c.2852T>G, XM_017018449.2:c.2852T>G, XM_017018449.1:c.2852T>G, NM_001378006.1:c.2927T>G, XM_047427764.1:c.2969T>G, XM_047427766.1:c.2969T>G, XM_047427767.1:c.2939T>G, XM_047427768.1:c.2939T>G, XM_047427769.1:c.2822T>G, XM_047427770.1:c.2897T>G, XM_047427771.1:c.2822T>G, XM_047427772.1:c.2897T>G, XM_047427773.1:c.2897T>G, XM_047427774.1:c.2822T>G, XM_047427775.1:c.2822T>G, XM_047427763.1:c.3044T>G, XM_047427776.1:c.1352T>G, XM_047427765.1:c.2939T>G, NP_003617.1:p.Ile941Ser, XP_006718779.1:p.Ile1015Ser, XP_011543609.1:p.Ile1015Ser, XP_011543610.1:p.Ile1005Ser, XP_011543612.1:p.Ile990Ser, XP_011543613.1:p.Ile1015Ser, XP_011543608.1:p.Ile1015Ser, XP_011543616.1:p.Ile966Ser, NP_803172.1:p.Ile941Ser, XP_011543611.1:p.Ile1015Ser, XP_011543614.1:p.Ile1015Ser, XP_011543617.1:p.Ile951Ser, XP_011543618.1:p.Ile976Ser, XP_011543619.1:p.Ile966Ser, XP_016873937.1:p.Ile1005Ser, XP_011543621.1:p.Ile951Ser, XP_016873938.1:p.Ile951Ser, NP_001364935.1:p.Ile976Ser, XP_047283720.1:p.Ile990Ser, XP_047283722.1:p.Ile990Ser, XP_047283723.1:p.Ile980Ser, XP_047283724.1:p.Ile980Ser, XP_047283725.1:p.Ile941Ser, XP_047283726.1:p.Ile966Ser, XP_047283727.1:p.Ile941Ser, XP_047283728.1:p.Ile966Ser, XP_047283729.1:p.Ile966Ser, XP_047283730.1:p.Ile941Ser, XP_047283731.1:p.Ile941Ser, XP_047283719.1:p.Ile1015Ser, XP_047283732.1:p.Ile451Ser, XP_047283721.1:p.Ile980Ser

                                    18.

                                    rs1471218554 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      11:70362095 (GRCh38)
                                      11:70208201 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:70362094:G:A
                                      Gene:
                                      PPFIA1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000011.10:g.70362095G>A, NC_000011.9:g.70208201G>A, NW_021160005.1:g.117916G>A, NM_003626.5:c.2583G>A, NM_003626.4:c.2583G>A, NM_003626.3:c.2583G>A, XM_006718716.4:c.2805G>A, XM_006718716.3:c.2805G>A, XM_006718716.2:c.2805G>A, XM_006718716.1:c.2805G>A, XM_011545307.4:c.2805G>A, XM_011545307.3:c.2805G>A, XM_011545307.2:c.2805G>A, XM_011545307.1:c.2805G>A, XM_011545308.4:c.2775G>A, XM_011545308.3:c.2775G>A, XM_011545308.2:c.2775G>A, XM_011545308.1:c.2775G>A, XM_011545310.4:c.2730G>A, XM_011545310.3:c.2730G>A, XM_011545310.2:c.2730G>A, XM_011545310.1:c.2730G>A, XM_011545311.4:c.2805G>A, XM_011545311.3:c.2805G>A, XM_011545311.2:c.2805G>A, XM_011545311.1:c.2805G>A, XM_011545306.4:c.2805G>A, XM_011545306.3:c.2805G>A, XM_011545306.2:c.2805G>A, XM_011545306.1:c.2805G>A, XM_011545314.4:c.2658G>A, XM_011545314.3:c.2658G>A, XM_011545314.2:c.2658G>A, XM_011545314.1:c.2658G>A, NM_177423.3:c.2583G>A, NM_177423.2:c.2583G>A, XM_011545309.3:c.2805G>A, XM_011545309.2:c.2805G>A, XM_011545309.1:c.2805G>A, XM_011545312.3:c.2805G>A, XM_011545312.2:c.2805G>A, XM_011545312.1:c.2805G>A, XM_011545315.3:c.2613G>A, XM_011545315.2:c.2613G>A, XM_011545315.1:c.2613G>A, XM_011545316.3:c.2688G>A, XM_011545316.2:c.2688G>A, XM_011545316.1:c.2688G>A, XM_011545317.3:c.2658G>A, XM_011545317.2:c.2658G>A, XM_011545317.1:c.2658G>A, NR_045286.3:n.2819G>A, NR_045286.2:n.2819G>A, NR_045286.1:n.2809G>A, XM_017018448.2:c.2775G>A, XM_017018448.1:c.2775G>A, XM_011545319.2:c.2613G>A, XM_011545319.1:c.2613G>A, XM_017018449.2:c.2613G>A, XM_017018449.1:c.2613G>A, NM_001378006.1:c.2688G>A, XM_047427764.1:c.2730G>A, XM_047427766.1:c.2730G>A, XM_047427767.1:c.2700G>A, XM_047427768.1:c.2700G>A, XM_047427769.1:c.2583G>A, XM_047427770.1:c.2658G>A, XM_047427771.1:c.2583G>A, XM_047427772.1:c.2658G>A, XM_047427773.1:c.2658G>A, XM_047427774.1:c.2583G>A, XM_047427775.1:c.2583G>A, XM_047427763.1:c.2805G>A, XM_047427776.1:c.1113G>A, XM_047427765.1:c.2700G>A

                                      19.

                                      rs1467564330 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:70354413 (GRCh38)
                                        11:70200519 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:70354412:T:C
                                        Gene:
                                        PPFIA1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.70354413T>C, NC_000011.9:g.70200519T>C, NW_021160005.1:g.110234T>C, NM_003626.5:c.2276T>C, NM_003626.4:c.2276T>C, NM_003626.3:c.2276T>C, XM_006718716.4:c.2498T>C, XM_006718716.3:c.2498T>C, XM_006718716.2:c.2498T>C, XM_006718716.1:c.2498T>C, XM_011545307.4:c.2498T>C, XM_011545307.3:c.2498T>C, XM_011545307.2:c.2498T>C, XM_011545307.1:c.2498T>C, XM_011545308.4:c.2468T>C, XM_011545308.3:c.2468T>C, XM_011545308.2:c.2468T>C, XM_011545308.1:c.2468T>C, XM_011545310.4:c.2423T>C, XM_011545310.3:c.2423T>C, XM_011545310.2:c.2423T>C, XM_011545310.1:c.2423T>C, XM_011545311.4:c.2498T>C, XM_011545311.3:c.2498T>C, XM_011545311.2:c.2498T>C, XM_011545311.1:c.2498T>C, XM_011545306.4:c.2498T>C, XM_011545306.3:c.2498T>C, XM_011545306.2:c.2498T>C, XM_011545306.1:c.2498T>C, XM_011545314.4:c.2351T>C, XM_011545314.3:c.2351T>C, XM_011545314.2:c.2351T>C, XM_011545314.1:c.2351T>C, NM_177423.3:c.2276T>C, NM_177423.2:c.2276T>C, XM_011545309.3:c.2498T>C, XM_011545309.2:c.2498T>C, XM_011545309.1:c.2498T>C, XM_011545312.3:c.2498T>C, XM_011545312.2:c.2498T>C, XM_011545312.1:c.2498T>C, XM_011545315.3:c.2306T>C, XM_011545315.2:c.2306T>C, XM_011545315.1:c.2306T>C, XM_011545316.3:c.2381T>C, XM_011545316.2:c.2381T>C, XM_011545316.1:c.2381T>C, XM_011545317.3:c.2351T>C, XM_011545317.2:c.2351T>C, XM_011545317.1:c.2351T>C, NR_045286.3:n.2512T>C, NR_045286.2:n.2512T>C, NR_045286.1:n.2502T>C, XM_017018448.2:c.2468T>C, XM_017018448.1:c.2468T>C, XM_011545319.2:c.2306T>C, XM_011545319.1:c.2306T>C, XM_017018449.2:c.2306T>C, XM_017018449.1:c.2306T>C, NM_001378006.1:c.2381T>C, XM_047427764.1:c.2423T>C, XM_047427766.1:c.2423T>C, XM_047427767.1:c.2393T>C, XM_047427768.1:c.2393T>C, XM_047427769.1:c.2276T>C, XM_047427770.1:c.2351T>C, XM_047427771.1:c.2276T>C, XM_047427772.1:c.2351T>C, XM_047427773.1:c.2351T>C, XM_047427774.1:c.2276T>C, XM_047427775.1:c.2276T>C, XM_047427763.1:c.2498T>C, XM_047427776.1:c.806T>C, XM_047427765.1:c.2393T>C, NP_003617.1:p.Leu759Pro, XP_006718779.1:p.Leu833Pro, XP_011543609.1:p.Leu833Pro, XP_011543610.1:p.Leu823Pro, XP_011543612.1:p.Leu808Pro, XP_011543613.1:p.Leu833Pro, XP_011543608.1:p.Leu833Pro, XP_011543616.1:p.Leu784Pro, NP_803172.1:p.Leu759Pro, XP_011543611.1:p.Leu833Pro, XP_011543614.1:p.Leu833Pro, XP_011543617.1:p.Leu769Pro, XP_011543618.1:p.Leu794Pro, XP_011543619.1:p.Leu784Pro, XP_016873937.1:p.Leu823Pro, XP_011543621.1:p.Leu769Pro, XP_016873938.1:p.Leu769Pro, NP_001364935.1:p.Leu794Pro, XP_047283720.1:p.Leu808Pro, XP_047283722.1:p.Leu808Pro, XP_047283723.1:p.Leu798Pro, XP_047283724.1:p.Leu798Pro, XP_047283725.1:p.Leu759Pro, XP_047283726.1:p.Leu784Pro, XP_047283727.1:p.Leu759Pro, XP_047283728.1:p.Leu784Pro, XP_047283729.1:p.Leu784Pro, XP_047283730.1:p.Leu759Pro, XP_047283731.1:p.Leu759Pro, XP_047283719.1:p.Leu833Pro, XP_047283732.1:p.Leu269Pro, XP_047283721.1:p.Leu798Pro

                                        20.

                                        rs1466673186 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          11:70348256 (GRCh38)
                                          11:70194362 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:70348255:G:C
                                          Gene:
                                          PPFIA1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000019/5 (TOPMED)
                                          C=0.000029/4 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.70348256G>C, NC_000011.9:g.70194362G>C, NW_021160005.1:g.104077G>C, NM_003626.5:c.1999G>C, NM_003626.4:c.1999G>C, NM_003626.3:c.1999G>C, XM_006718716.4:c.2074G>C, XM_006718716.3:c.2074G>C, XM_006718716.2:c.2074G>C, XM_006718716.1:c.2074G>C, XM_011545307.4:c.2074G>C, XM_011545307.3:c.2074G>C, XM_011545307.2:c.2074G>C, XM_011545307.1:c.2074G>C, XM_011545308.4:c.2074G>C, XM_011545308.3:c.2074G>C, XM_011545308.2:c.2074G>C, XM_011545308.1:c.2074G>C, XM_011545310.4:c.1999G>C, XM_011545310.3:c.1999G>C, XM_011545310.2:c.1999G>C, XM_011545310.1:c.1999G>C, XM_011545311.4:c.2074G>C, XM_011545311.3:c.2074G>C, XM_011545311.2:c.2074G>C, XM_011545311.1:c.2074G>C, XM_011545306.4:c.2074G>C, XM_011545306.3:c.2074G>C, XM_011545306.2:c.2074G>C, XM_011545306.1:c.2074G>C, XM_011545314.4:c.2074G>C, XM_011545314.3:c.2074G>C, XM_011545314.2:c.2074G>C, XM_011545314.1:c.2074G>C, NM_177423.3:c.1999G>C, NM_177423.2:c.1999G>C, XM_011545309.3:c.2074G>C, XM_011545309.2:c.2074G>C, XM_011545309.1:c.2074G>C, XM_011545312.3:c.2074G>C, XM_011545312.2:c.2074G>C, XM_011545312.1:c.2074G>C, XM_011545315.3:c.1999G>C, XM_011545315.2:c.1999G>C, XM_011545315.1:c.1999G>C, XM_011545316.3:c.2074G>C, XM_011545316.2:c.2074G>C, XM_011545316.1:c.2074G>C, XM_011545317.3:c.2074G>C, XM_011545317.2:c.2074G>C, XM_011545317.1:c.2074G>C, NR_045286.3:n.2205G>C, NR_045286.2:n.2205G>C, NR_045286.1:n.2195G>C, XM_017018448.2:c.2074G>C, XM_017018448.1:c.2074G>C, XM_011545319.2:c.1999G>C, XM_011545319.1:c.1999G>C, XM_017018449.2:c.1999G>C, XM_017018449.1:c.1999G>C, NM_001378006.1:c.2074G>C, XM_047427764.1:c.1999G>C, XM_047427766.1:c.1999G>C, XM_047427767.1:c.1999G>C, XM_047427768.1:c.1999G>C, XM_047427769.1:c.1999G>C, XM_047427770.1:c.2074G>C, XM_047427771.1:c.1999G>C, XM_047427772.1:c.2074G>C, XM_047427773.1:c.2074G>C, XM_047427774.1:c.1999G>C, XM_047427775.1:c.1999G>C, XM_047427763.1:c.2074G>C, XM_047427776.1:c.382G>C, XM_047427765.1:c.1999G>C, NP_003617.1:p.Gly667Arg, XP_006718779.1:p.Gly692Arg, XP_011543609.1:p.Gly692Arg, XP_011543610.1:p.Gly692Arg, XP_011543612.1:p.Gly667Arg, XP_011543613.1:p.Gly692Arg, XP_011543608.1:p.Gly692Arg, XP_011543616.1:p.Gly692Arg, NP_803172.1:p.Gly667Arg, XP_011543611.1:p.Gly692Arg, XP_011543614.1:p.Gly692Arg, XP_011543617.1:p.Gly667Arg, XP_011543618.1:p.Gly692Arg, XP_011543619.1:p.Gly692Arg, XP_016873937.1:p.Gly692Arg, XP_011543621.1:p.Gly667Arg, XP_016873938.1:p.Gly667Arg, NP_001364935.1:p.Gly692Arg, XP_047283720.1:p.Gly667Arg, XP_047283722.1:p.Gly667Arg, XP_047283723.1:p.Gly667Arg, XP_047283724.1:p.Gly667Arg, XP_047283725.1:p.Gly667Arg, XP_047283726.1:p.Gly692Arg, XP_047283727.1:p.Gly667Arg, XP_047283728.1:p.Gly692Arg, XP_047283729.1:p.Gly692Arg, XP_047283730.1:p.Gly667Arg, XP_047283731.1:p.Gly667Arg, XP_047283719.1:p.Gly692Arg, XP_047283732.1:p.Gly128Arg, XP_047283721.1:p.Gly667Arg

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