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Items: 1 to 20 of 1053

1.

rs1487989046 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    11:7655459 (GRCh38)
    11:7676690 (GRCh37)
    Canonical SPDI:
    NC_000011.10:7655458:G:A
    Gene:
    PPFIBP2 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.00006/1 (TOMMO)
    HGVS:
    NC_000011.10:g.7655459G>A, NC_000011.9:g.7676690G>A, XM_006718349.4:c.2673G>A, XM_006718349.3:c.2673G>A, XM_006718349.2:c.2673G>A, XM_006718349.1:c.2673G>A, XM_005253177.4:c.2640G>A, XM_005253177.3:c.2640G>A, XM_005253177.2:c.2640G>A, XM_005253177.1:c.2640G>A, XM_011520417.3:c.2466G>A, XM_011520417.2:c.2466G>A, XM_011520417.1:c.2466G>A, XM_011520413.3:c.2673G>A, XM_011520413.2:c.2673G>A, XM_011520413.1:c.2673G>A, XM_006718352.3:c.2409G>A, XM_006718352.2:c.2409G>A, XM_006718352.1:c.2409G>A, XM_011520414.3:c.2673G>A, XM_011520414.2:c.2673G>A, XM_011520414.1:c.2673G>A, XM_011520418.3:c.2337G>A, XM_011520418.2:c.2337G>A, XM_011520418.1:c.2337G>A, XM_006718353.3:c.2244G>A, XM_006718353.2:c.2244G>A, XM_006718353.1:c.2244G>A, NM_001351857.2:c.2442G>A, NM_001351857.1:c.2442G>A, XM_024448725.2:c.2166G>A, XM_047427755.1:c.2202G>A, XM_047427752.1:c.2433G>A, XM_047427750.1:c.2640G>A, XM_047427753.1:c.2304G>A, XM_047427756.1:c.2166G>A, XM_047427754.1:c.2211G>A

    2.

    rs1487714843 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      11:7650942 (GRCh38)
      11:7672173 (GRCh37)
      Canonical SPDI:
      NC_000011.10:7650941:A:G
      Gene:
      PPFIBP2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.7650942A>G, NC_000011.9:g.7672173A>G, NM_003621.5:c.2224A>G, NM_003621.4:c.2224A>G, NM_003621.3:c.2224A>G, XM_006718349.4:c.2257A>G, XM_006718349.3:c.2257A>G, XM_006718349.2:c.2257A>G, XM_006718349.1:c.2257A>G, XM_005253177.4:c.2224A>G, XM_005253177.3:c.2224A>G, XM_005253177.2:c.2224A>G, XM_005253177.1:c.2224A>G, XM_011520416.4:c.2257A>G, XM_011520416.3:c.2257A>G, XM_011520416.2:c.2257A>G, XM_011520416.1:c.2257A>G, XM_011520415.4:c.2257A>G, XM_011520415.3:c.2257A>G, XM_011520415.2:c.2257A>G, XM_011520415.1:c.2257A>G, XM_011520417.3:c.2050A>G, XM_011520417.2:c.2050A>G, XM_011520417.1:c.2050A>G, XM_011520413.3:c.2257A>G, XM_011520413.2:c.2257A>G, XM_011520413.1:c.2257A>G, XM_006718352.3:c.1993A>G, XM_006718352.2:c.1993A>G, XM_006718352.1:c.1993A>G, XM_011520414.3:c.2257A>G, XM_011520414.2:c.2257A>G, XM_011520414.1:c.2257A>G, XM_011520418.3:c.1921A>G, XM_011520418.2:c.1921A>G, XM_011520418.1:c.1921A>G, XM_006718353.3:c.1828A>G, XM_006718353.2:c.1828A>G, XM_006718353.1:c.1828A>G, NM_001351857.2:c.2026A>G, NM_001351857.1:c.2026A>G, NM_001351860.2:c.2017A>G, NM_001351860.1:c.2017A>G, XM_024448725.2:c.1750A>G, XM_024448725.1:c.1750A>G, NM_001351859.2:c.2026A>G, NM_001351859.1:c.2026A>G, NM_001351861.2:c.1993A>G, NM_001351861.1:c.1993A>G, NM_001351862.2:c.2224A>G, NM_001351862.1:c.2224A>G, NM_001351855.2:c.2257A>G, NM_001351855.1:c.2257A>G, NR_147792.2:n.2397A>G, NR_147792.1:n.2631A>G, NM_001351856.2:c.2230A>G, NM_001351856.1:c.2230A>G, NM_001351858.2:c.1993A>G, NM_001351858.1:c.1993A>G, NM_001351853.2:c.2257A>G, NM_001351853.1:c.2257A>G, NM_001351854.2:c.2224A>G, NM_001351854.1:c.2224A>G, NM_001256568.2:c.1888A>G, NM_001256568.1:c.1888A>G, NM_001256569.2:c.1795A>G, NM_001256569.1:c.1795A>G, XM_047427755.1:c.1786A>G, XM_047427752.1:c.2017A>G, XM_047427750.1:c.2224A>G, XM_047427753.1:c.1888A>G, XM_047427756.1:c.1750A>G, XM_047427754.1:c.1795A>G, XM_047427751.1:c.2224A>G, NP_003612.3:p.Ser742Gly, XP_006718412.1:p.Ser753Gly, XP_005253234.1:p.Ser742Gly, XP_011518718.1:p.Ser753Gly, XP_011518717.1:p.Ser753Gly, XP_011518719.1:p.Ser684Gly, XP_011518715.1:p.Ser753Gly, XP_006718415.1:p.Ser665Gly, XP_011518716.1:p.Ser753Gly, XP_011518720.1:p.Ser641Gly, XP_006718416.1:p.Ser610Gly, NP_001338786.2:p.Ser676Gly, NP_001338789.2:p.Ser673Gly, XP_024304493.2:p.Ser584Gly, NP_001338788.2:p.Ser676Gly, NP_001338790.2:p.Ser665Gly, NP_001338791.2:p.Ser742Gly, NP_001338784.2:p.Ser753Gly, NP_001338785.2:p.Ser744Gly, NP_001338787.2:p.Ser665Gly, NP_001338782.2:p.Ser753Gly, NP_001338783.2:p.Ser742Gly, NP_001243497.2:p.Ser630Gly, NP_001243498.2:p.Ser599Gly, XP_047283711.1:p.Ser596Gly, XP_047283708.1:p.Ser673Gly, XP_047283706.1:p.Ser742Gly, XP_047283709.1:p.Ser630Gly, XP_047283712.1:p.Ser584Gly, XP_047283710.1:p.Ser599Gly, XP_047283707.1:p.Ser742Gly

      3.

      rs1487663307 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        11:7648852 (GRCh38)
        11:7670083 (GRCh37)
        Canonical SPDI:
        NC_000011.10:7648851:A:C
        Gene:
        PPFIBP2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.7648852A>C, NC_000011.9:g.7670083A>C, NM_003621.5:c.1850A>C, NM_003621.4:c.1850A>C, NM_003621.3:c.1850A>C, XM_006718349.4:c.1883A>C, XM_006718349.3:c.1883A>C, XM_006718349.2:c.1883A>C, XM_006718349.1:c.1883A>C, XM_005253177.4:c.1850A>C, XM_005253177.3:c.1850A>C, XM_005253177.2:c.1850A>C, XM_005253177.1:c.1850A>C, XM_011520416.4:c.1883A>C, XM_011520416.3:c.1883A>C, XM_011520416.2:c.1883A>C, XM_011520416.1:c.1883A>C, XM_011520415.4:c.1883A>C, XM_011520415.3:c.1883A>C, XM_011520415.2:c.1883A>C, XM_011520415.1:c.1883A>C, XM_011520417.3:c.1676A>C, XM_011520417.2:c.1676A>C, XM_011520417.1:c.1676A>C, XM_011520413.3:c.1883A>C, XM_011520413.2:c.1883A>C, XM_011520413.1:c.1883A>C, XM_006718352.3:c.1619A>C, XM_006718352.2:c.1619A>C, XM_006718352.1:c.1619A>C, XM_011520414.3:c.1883A>C, XM_011520414.2:c.1883A>C, XM_011520414.1:c.1883A>C, XM_011520418.3:c.1547A>C, XM_011520418.2:c.1547A>C, XM_011520418.1:c.1547A>C, XM_006718353.3:c.1454A>C, XM_006718353.2:c.1454A>C, XM_006718353.1:c.1454A>C, NM_001351857.2:c.1652A>C, NM_001351857.1:c.1652A>C, NM_001351860.2:c.1643A>C, NM_001351860.1:c.1643A>C, XM_024448725.2:c.1376A>C, XM_024448725.1:c.1376A>C, NM_001351859.2:c.1652A>C, NM_001351859.1:c.1652A>C, NM_001351861.2:c.1619A>C, NM_001351861.1:c.1619A>C, NM_001351862.2:c.1850A>C, NM_001351862.1:c.1850A>C, NM_001351855.2:c.1883A>C, NM_001351855.1:c.1883A>C, NR_147792.2:n.2042A>C, NR_147792.1:n.2276A>C, NM_001351856.2:c.1856A>C, NM_001351856.1:c.1856A>C, NM_001351858.2:c.1619A>C, NM_001351858.1:c.1619A>C, NM_001351853.2:c.1883A>C, NM_001351853.1:c.1883A>C, NM_001351854.2:c.1850A>C, NM_001351854.1:c.1850A>C, NM_001256568.2:c.1514A>C, NM_001256568.1:c.1514A>C, NM_001256569.2:c.1421A>C, NM_001256569.1:c.1421A>C, XM_047427755.1:c.1412A>C, XM_047427752.1:c.1643A>C, XM_047427750.1:c.1850A>C, XM_047427753.1:c.1514A>C, XM_047427756.1:c.1376A>C, XM_047427754.1:c.1421A>C, XM_047427751.1:c.1850A>C, NP_003612.3:p.Lys617Thr, XP_006718412.1:p.Lys628Thr, XP_005253234.1:p.Lys617Thr, XP_011518718.1:p.Lys628Thr, XP_011518717.1:p.Lys628Thr, XP_011518719.1:p.Lys559Thr, XP_011518715.1:p.Lys628Thr, XP_006718415.1:p.Lys540Thr, XP_011518716.1:p.Lys628Thr, XP_011518720.1:p.Lys516Thr, XP_006718416.1:p.Lys485Thr, NP_001338786.2:p.Lys551Thr, NP_001338789.2:p.Lys548Thr, XP_024304493.2:p.Lys459Thr, NP_001338788.2:p.Lys551Thr, NP_001338790.2:p.Lys540Thr, NP_001338791.2:p.Lys617Thr, NP_001338784.2:p.Lys628Thr, NP_001338785.2:p.Lys619Thr, NP_001338787.2:p.Lys540Thr, NP_001338782.2:p.Lys628Thr, NP_001338783.2:p.Lys617Thr, NP_001243497.2:p.Lys505Thr, NP_001243498.2:p.Lys474Thr, XP_047283711.1:p.Lys471Thr, XP_047283708.1:p.Lys548Thr, XP_047283706.1:p.Lys617Thr, XP_047283709.1:p.Lys505Thr, XP_047283712.1:p.Lys459Thr, XP_047283710.1:p.Lys474Thr, XP_047283707.1:p.Lys617Thr

        4.

        rs1486730972 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:7651813 (GRCh38)
          11:7673044 (GRCh37)
          Canonical SPDI:
          NC_000011.10:7651812:A:G
          Gene:
          PPFIBP2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000011.10:g.7651813A>G, NC_000011.9:g.7673044A>G, NM_003621.5:c.2405A>G, NM_003621.4:c.2405A>G, NM_003621.3:c.2405A>G, XM_006718349.4:c.2438A>G, XM_006718349.3:c.2438A>G, XM_006718349.2:c.2438A>G, XM_006718349.1:c.2438A>G, XM_005253177.4:c.2405A>G, XM_005253177.3:c.2405A>G, XM_005253177.2:c.2405A>G, XM_005253177.1:c.2405A>G, XM_011520416.4:c.2438A>G, XM_011520416.3:c.2438A>G, XM_011520416.2:c.2438A>G, XM_011520416.1:c.2438A>G, XM_011520415.4:c.2438A>G, XM_011520415.3:c.2438A>G, XM_011520415.2:c.2438A>G, XM_011520415.1:c.2438A>G, XM_011520417.3:c.2231A>G, XM_011520417.2:c.2231A>G, XM_011520417.1:c.2231A>G, XM_011520413.3:c.2438A>G, XM_011520413.2:c.2438A>G, XM_011520413.1:c.2438A>G, XM_006718352.3:c.2174A>G, XM_006718352.2:c.2174A>G, XM_006718352.1:c.2174A>G, XM_011520414.3:c.2438A>G, XM_011520414.2:c.2438A>G, XM_011520414.1:c.2438A>G, XM_011520418.3:c.2102A>G, XM_011520418.2:c.2102A>G, XM_011520418.1:c.2102A>G, XM_006718353.3:c.2009A>G, XM_006718353.2:c.2009A>G, XM_006718353.1:c.2009A>G, NM_001351857.2:c.2207A>G, NM_001351857.1:c.2207A>G, NM_001351860.2:c.2198A>G, NM_001351860.1:c.2198A>G, XM_024448725.2:c.1931A>G, XM_024448725.1:c.1931A>G, NM_001351859.2:c.2207A>G, NM_001351859.1:c.2207A>G, NM_001351861.2:c.2174A>G, NM_001351861.1:c.2174A>G, NM_001351862.2:c.2405A>G, NM_001351862.1:c.2405A>G, NM_001351855.2:c.2438A>G, NM_001351855.1:c.2438A>G, NR_147792.2:n.2578A>G, NR_147792.1:n.2812A>G, NM_001351856.2:c.2411A>G, NM_001351856.1:c.2411A>G, NM_001351858.2:c.2174A>G, NM_001351858.1:c.2174A>G, NM_001351853.2:c.2438A>G, NM_001351853.1:c.2438A>G, NM_001351854.2:c.2405A>G, NM_001351854.1:c.2405A>G, NM_001256568.2:c.2069A>G, NM_001256568.1:c.2069A>G, NM_001256569.2:c.1976A>G, NM_001256569.1:c.1976A>G, XM_047427755.1:c.1967A>G, XM_047427752.1:c.2198A>G, XM_047427750.1:c.2405A>G, XM_047427753.1:c.2069A>G, XM_047427756.1:c.1931A>G, XM_047427754.1:c.1976A>G, XM_047427751.1:c.2405A>G, NP_003612.3:p.Tyr802Cys, XP_006718412.1:p.Tyr813Cys, XP_005253234.1:p.Tyr802Cys, XP_011518718.1:p.Tyr813Cys, XP_011518717.1:p.Tyr813Cys, XP_011518719.1:p.Tyr744Cys, XP_011518715.1:p.Tyr813Cys, XP_006718415.1:p.Tyr725Cys, XP_011518716.1:p.Tyr813Cys, XP_011518720.1:p.Tyr701Cys, XP_006718416.1:p.Tyr670Cys, NP_001338786.2:p.Tyr736Cys, NP_001338789.2:p.Tyr733Cys, XP_024304493.2:p.Tyr644Cys, NP_001338788.2:p.Tyr736Cys, NP_001338790.2:p.Tyr725Cys, NP_001338791.2:p.Tyr802Cys, NP_001338784.2:p.Tyr813Cys, NP_001338785.2:p.Tyr804Cys, NP_001338787.2:p.Tyr725Cys, NP_001338782.2:p.Tyr813Cys, NP_001338783.2:p.Tyr802Cys, NP_001243497.2:p.Tyr690Cys, NP_001243498.2:p.Tyr659Cys, XP_047283711.1:p.Tyr656Cys, XP_047283708.1:p.Tyr733Cys, XP_047283706.1:p.Tyr802Cys, XP_047283709.1:p.Tyr690Cys, XP_047283712.1:p.Tyr644Cys, XP_047283710.1:p.Tyr659Cys, XP_047283707.1:p.Tyr802Cys

          5.

          rs1486123600 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            11:7565555 (GRCh38)
            11:7586786 (GRCh37)
            Canonical SPDI:
            NC_000011.10:7565554:A:T
            Gene:
            PPFIBP2 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_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=0.000007/1 (GnomAD)
            HGVS:
            NC_000011.10:g.7565555A>T, NC_000011.9:g.7586786A>T, NM_003621.5:c.67A>T, NM_003621.4:c.67A>T, NM_003621.3:c.67A>T, XM_006718349.4:c.67A>T, XM_006718349.3:c.67A>T, XM_006718349.2:c.67A>T, XM_006718349.1:c.67A>T, XM_005253177.4:c.67A>T, XM_005253177.3:c.67A>T, XM_005253177.2:c.67A>T, XM_005253177.1:c.67A>T, XM_011520416.4:c.67A>T, XM_011520416.3:c.67A>T, XM_011520416.2:c.67A>T, XM_011520416.1:c.67A>T, XM_011520415.4:c.67A>T, XM_011520415.3:c.67A>T, XM_011520415.2:c.67A>T, XM_011520415.1:c.67A>T, XM_011520413.3:c.67A>T, XM_011520413.2:c.67A>T, XM_011520413.1:c.67A>T, XM_011520414.3:c.67A>T, XM_011520414.2:c.67A>T, XM_011520414.1:c.67A>T, NM_001351862.2:c.67A>T, NM_001351862.1:c.67A>T, NM_001351855.2:c.67A>T, NM_001351855.1:c.67A>T, NR_147792.2:n.226A>T, NR_147792.1:n.460A>T, NM_001351856.2:c.67A>T, NM_001351856.1:c.67A>T, NM_001351853.2:c.67A>T, NM_001351853.1:c.67A>T, NM_001351854.2:c.67A>T, NM_001351854.1:c.67A>T, XM_047427750.1:c.67A>T, XM_047427751.1:c.67A>T, NP_003612.3:p.Thr23Ser, XP_006718412.1:p.Thr23Ser, XP_005253234.1:p.Thr23Ser, XP_011518718.1:p.Thr23Ser, XP_011518717.1:p.Thr23Ser, XP_011518715.1:p.Thr23Ser, XP_011518716.1:p.Thr23Ser, NP_001338791.2:p.Thr23Ser, NP_001338784.2:p.Thr23Ser, NP_001338785.2:p.Thr23Ser, NP_001338782.2:p.Thr23Ser, NP_001338783.2:p.Thr23Ser, XP_047283706.1:p.Thr23Ser, XP_047283707.1:p.Thr23Ser

            6.

            rs1484201225 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:7610400 (GRCh38)
              11:7631631 (GRCh37)
              Canonical SPDI:
              NC_000011.10:7610399:A:G
              Gene:
              PPFIBP2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.7610400A>G, NC_000011.9:g.7631631A>G, NM_003621.5:c.596A>G, NM_003621.4:c.596A>G, NM_003621.3:c.596A>G, XM_006718349.4:c.596A>G, XM_006718349.3:c.596A>G, XM_006718349.2:c.596A>G, XM_006718349.1:c.596A>G, XM_005253177.4:c.596A>G, XM_005253177.3:c.596A>G, XM_005253177.2:c.596A>G, XM_005253177.1:c.596A>G, XM_011520416.4:c.596A>G, XM_011520416.3:c.596A>G, XM_011520416.2:c.596A>G, XM_011520416.1:c.596A>G, XM_011520415.4:c.596A>G, XM_011520415.3:c.596A>G, XM_011520415.2:c.596A>G, XM_011520415.1:c.596A>G, XM_011520417.3:c.389A>G, XM_011520417.2:c.389A>G, XM_011520417.1:c.389A>G, XM_011520413.3:c.596A>G, XM_011520413.2:c.596A>G, XM_011520413.1:c.596A>G, XM_006718352.3:c.365A>G, XM_006718352.2:c.365A>G, XM_006718352.1:c.365A>G, XM_011520414.3:c.596A>G, XM_011520414.2:c.596A>G, XM_011520414.1:c.596A>G, XM_011520418.3:c.260A>G, XM_011520418.2:c.260A>G, XM_011520418.1:c.260A>G, XM_006718353.3:c.167A>G, XM_006718353.2:c.167A>G, XM_006718353.1:c.167A>G, NM_001351857.2:c.365A>G, NM_001351857.1:c.365A>G, NM_001351860.2:c.389A>G, NM_001351860.1:c.389A>G, XM_024448725.2:c.122A>G, XM_024448725.1:c.122A>G, NM_001351859.2:c.365A>G, NM_001351859.1:c.365A>G, NM_001351861.2:c.365A>G, NM_001351861.1:c.365A>G, NM_001351862.2:c.596A>G, NM_001351862.1:c.596A>G, NM_001351855.2:c.596A>G, NM_001351855.1:c.596A>G, NR_147792.2:n.755A>G, NR_147792.1:n.989A>G, NM_001351856.2:c.596A>G, NM_001351856.1:c.596A>G, NM_001351858.2:c.365A>G, NM_001351858.1:c.365A>G, NM_001351853.2:c.596A>G, NM_001351853.1:c.596A>G, NM_001351854.2:c.596A>G, NM_001351854.1:c.596A>G, NM_001256568.2:c.260A>G, NM_001256568.1:c.260A>G, NM_001256569.2:c.167A>G, NM_001256569.1:c.167A>G, XM_047427752.1:c.389A>G, XM_047427750.1:c.596A>G, XM_047427753.1:c.260A>G, XM_047427756.1:c.122A>G, XM_047427754.1:c.167A>G, XM_047427751.1:c.596A>G, NP_003612.3:p.Glu199Gly, XP_006718412.1:p.Glu199Gly, XP_005253234.1:p.Glu199Gly, XP_011518718.1:p.Glu199Gly, XP_011518717.1:p.Glu199Gly, XP_011518719.1:p.Glu130Gly, XP_011518715.1:p.Glu199Gly, XP_006718415.1:p.Glu122Gly, XP_011518716.1:p.Glu199Gly, XP_011518720.1:p.Glu87Gly, XP_006718416.1:p.Glu56Gly, NP_001338786.2:p.Glu122Gly, NP_001338789.2:p.Glu130Gly, XP_024304493.2:p.Glu41Gly, NP_001338788.2:p.Glu122Gly, NP_001338790.2:p.Glu122Gly, NP_001338791.2:p.Glu199Gly, NP_001338784.2:p.Glu199Gly, NP_001338785.2:p.Glu199Gly, NP_001338787.2:p.Glu122Gly, NP_001338782.2:p.Glu199Gly, NP_001338783.2:p.Glu199Gly, NP_001243497.2:p.Glu87Gly, NP_001243498.2:p.Glu56Gly, XP_047283708.1:p.Glu130Gly, XP_047283706.1:p.Glu199Gly, XP_047283709.1:p.Glu87Gly, XP_047283712.1:p.Glu41Gly, XP_047283710.1:p.Glu56Gly, XP_047283707.1:p.Glu199Gly

              7.

              rs1482631642 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:7628318 (GRCh38)
                11:7649549 (GRCh37)
                Canonical SPDI:
                NC_000011.10:7628317:A:G
                Gene:
                PPFIBP2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.7628318A>G, NC_000011.9:g.7649549A>G, NM_003621.5:c.860A>G, NM_003621.4:c.860A>G, NM_003621.3:c.860A>G, XM_006718349.4:c.860A>G, XM_006718349.3:c.860A>G, XM_006718349.2:c.860A>G, XM_006718349.1:c.860A>G, XM_005253177.4:c.860A>G, XM_005253177.3:c.860A>G, XM_005253177.2:c.860A>G, XM_005253177.1:c.860A>G, XM_011520416.4:c.860A>G, XM_011520416.3:c.860A>G, XM_011520416.2:c.860A>G, XM_011520416.1:c.860A>G, XM_011520415.4:c.860A>G, XM_011520415.3:c.860A>G, XM_011520415.2:c.860A>G, XM_011520415.1:c.860A>G, XM_011520417.3:c.653A>G, XM_011520417.2:c.653A>G, XM_011520417.1:c.653A>G, XM_011520413.3:c.860A>G, XM_011520413.2:c.860A>G, XM_011520413.1:c.860A>G, XM_006718352.3:c.629A>G, XM_006718352.2:c.629A>G, XM_006718352.1:c.629A>G, XM_011520414.3:c.860A>G, XM_011520414.2:c.860A>G, XM_011520414.1:c.860A>G, XM_011520418.3:c.524A>G, XM_011520418.2:c.524A>G, XM_011520418.1:c.524A>G, XM_006718353.3:c.431A>G, XM_006718353.2:c.431A>G, XM_006718353.1:c.431A>G, NM_001351857.2:c.629A>G, NM_001351857.1:c.629A>G, NM_001351860.2:c.653A>G, NM_001351860.1:c.653A>G, XM_024448725.2:c.386A>G, XM_024448725.1:c.386A>G, NM_001351859.2:c.629A>G, NM_001351859.1:c.629A>G, NM_001351861.2:c.629A>G, NM_001351861.1:c.629A>G, NM_001351862.2:c.860A>G, NM_001351862.1:c.860A>G, NM_001351855.2:c.860A>G, NM_001351855.1:c.860A>G, NR_147792.2:n.1019A>G, NR_147792.1:n.1253A>G, NM_001351856.2:c.866A>G, NM_001351856.1:c.866A>G, NM_001351858.2:c.629A>G, NM_001351858.1:c.629A>G, NM_001351853.2:c.860A>G, NM_001351853.1:c.860A>G, NM_001351854.2:c.860A>G, NM_001351854.1:c.860A>G, NM_001256568.2:c.524A>G, NM_001256568.1:c.524A>G, NM_001256569.2:c.431A>G, NM_001256569.1:c.431A>G, XM_047427755.1:c.389A>G, XM_047427752.1:c.653A>G, XM_047427750.1:c.860A>G, XM_047427753.1:c.524A>G, XM_047427756.1:c.386A>G, XM_047427754.1:c.431A>G, XM_047427751.1:c.860A>G, NP_003612.3:p.Glu287Gly, XP_006718412.1:p.Glu287Gly, XP_005253234.1:p.Glu287Gly, XP_011518718.1:p.Glu287Gly, XP_011518717.1:p.Glu287Gly, XP_011518719.1:p.Glu218Gly, XP_011518715.1:p.Glu287Gly, XP_006718415.1:p.Glu210Gly, XP_011518716.1:p.Glu287Gly, XP_011518720.1:p.Glu175Gly, XP_006718416.1:p.Glu144Gly, NP_001338786.2:p.Glu210Gly, NP_001338789.2:p.Glu218Gly, XP_024304493.2:p.Glu129Gly, NP_001338788.2:p.Glu210Gly, NP_001338790.2:p.Glu210Gly, NP_001338791.2:p.Glu287Gly, NP_001338784.2:p.Glu287Gly, NP_001338785.2:p.Glu289Gly, NP_001338787.2:p.Glu210Gly, NP_001338782.2:p.Glu287Gly, NP_001338783.2:p.Glu287Gly, NP_001243497.2:p.Glu175Gly, NP_001243498.2:p.Glu144Gly, XP_047283711.1:p.Glu130Gly, XP_047283708.1:p.Glu218Gly, XP_047283706.1:p.Glu287Gly, XP_047283709.1:p.Glu175Gly, XP_047283712.1:p.Glu129Gly, XP_047283710.1:p.Glu144Gly, XP_047283707.1:p.Glu287Gly

                8.

                rs1482030217 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  11:7593213 (GRCh38)
                  11:7614444 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:7593212:C:A,NC_000011.10:7593212:C:T
                  Gene:
                  PPFIBP2 (Varview), LOC105376535 (Varview)
                  Functional Consequence:
                  intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000011.10:g.7593213C>A, NC_000011.10:g.7593213C>T, NC_000011.9:g.7614444C>A, NC_000011.9:g.7614444C>T, NM_003621.5:c.361C>A, NM_003621.5:c.361C>T, NM_003621.4:c.361C>A, NM_003621.4:c.361C>T, NM_003621.3:c.361C>A, NM_003621.3:c.361C>T, XM_006718349.4:c.361C>A, XM_006718349.4:c.361C>T, XM_006718349.3:c.361C>A, XM_006718349.3:c.361C>T, XM_006718349.2:c.361C>A, XM_006718349.2:c.361C>T, XM_006718349.1:c.361C>A, XM_006718349.1:c.361C>T, XM_005253177.4:c.361C>A, XM_005253177.4:c.361C>T, XM_005253177.3:c.361C>A, XM_005253177.3:c.361C>T, XM_005253177.2:c.361C>A, XM_005253177.2:c.361C>T, XM_005253177.1:c.361C>A, XM_005253177.1:c.361C>T, XM_011520416.4:c.361C>A, XM_011520416.4:c.361C>T, XM_011520416.3:c.361C>A, XM_011520416.3:c.361C>T, XM_011520416.2:c.361C>A, XM_011520416.2:c.361C>T, XM_011520416.1:c.361C>A, XM_011520416.1:c.361C>T, XM_011520415.4:c.361C>A, XM_011520415.4:c.361C>T, XM_011520415.3:c.361C>A, XM_011520415.3:c.361C>T, XM_011520415.2:c.361C>A, XM_011520415.2:c.361C>T, XM_011520415.1:c.361C>A, XM_011520415.1:c.361C>T, XM_011520417.3:c.154C>A, XM_011520417.3:c.154C>T, XM_011520417.2:c.154C>A, XM_011520417.2:c.154C>T, XM_011520417.1:c.154C>A, XM_011520417.1:c.154C>T, XM_011520413.3:c.361C>A, XM_011520413.3:c.361C>T, XM_011520413.2:c.361C>A, XM_011520413.2:c.361C>T, XM_011520413.1:c.361C>A, XM_011520413.1:c.361C>T, XM_006718352.3:c.130C>A, XM_006718352.3:c.130C>T, XM_006718352.2:c.130C>A, XM_006718352.2:c.130C>T, XM_006718352.1:c.130C>A, XM_006718352.1:c.130C>T, XM_011520414.3:c.361C>A, XM_011520414.3:c.361C>T, XM_011520414.2:c.361C>A, XM_011520414.2:c.361C>T, XM_011520414.1:c.361C>A, XM_011520414.1:c.361C>T, NM_001351857.2:c.130C>A, NM_001351857.2:c.130C>T, NM_001351857.1:c.130C>A, NM_001351857.1:c.130C>T, NM_001351860.2:c.154C>A, NM_001351860.2:c.154C>T, NM_001351860.1:c.154C>A, NM_001351860.1:c.154C>T, XM_024448725.2:c.-114C>A, XM_024448725.2:c.-114C>T, XM_024448725.1:c.-114C>A, XM_024448725.1:c.-114C>T, NM_001351859.2:c.130C>A, NM_001351859.2:c.130C>T, NM_001351859.1:c.130C>A, NM_001351859.1:c.130C>T, NM_001351861.2:c.130C>A, NM_001351861.2:c.130C>T, NM_001351861.1:c.130C>A, NM_001351861.1:c.130C>T, NM_001351862.2:c.361C>A, NM_001351862.2:c.361C>T, NM_001351862.1:c.361C>A, NM_001351862.1:c.361C>T, NM_001351855.2:c.361C>A, NM_001351855.2:c.361C>T, NM_001351855.1:c.361C>A, NM_001351855.1:c.361C>T, NR_147792.2:n.520C>A, NR_147792.2:n.520C>T, NR_147792.1:n.754C>A, NR_147792.1:n.754C>T, NM_001351856.2:c.361C>A, NM_001351856.2:c.361C>T, NM_001351856.1:c.361C>A, NM_001351856.1:c.361C>T, NM_001351858.2:c.130C>A, NM_001351858.2:c.130C>T, NM_001351858.1:c.130C>A, NM_001351858.1:c.130C>T, NM_001351853.2:c.361C>A, NM_001351853.2:c.361C>T, NM_001351853.1:c.361C>A, NM_001351853.1:c.361C>T, NM_001351854.2:c.361C>A, NM_001351854.2:c.361C>T, NM_001351854.1:c.361C>A, NM_001351854.1:c.361C>T, XM_047427752.1:c.154C>A, XM_047427752.1:c.154C>T, XM_047427750.1:c.361C>A, XM_047427750.1:c.361C>T, XM_047427756.1:c.-114C>A, XM_047427756.1:c.-114C>T, XM_047427751.1:c.361C>A, XM_047427751.1:c.361C>T, NP_003612.3:p.Leu121Ile, NP_003612.3:p.Leu121Phe, XP_006718412.1:p.Leu121Ile, XP_006718412.1:p.Leu121Phe, XP_005253234.1:p.Leu121Ile, XP_005253234.1:p.Leu121Phe, XP_011518718.1:p.Leu121Ile, XP_011518718.1:p.Leu121Phe, XP_011518717.1:p.Leu121Ile, XP_011518717.1:p.Leu121Phe, XP_011518719.1:p.Leu52Ile, XP_011518719.1:p.Leu52Phe, XP_011518715.1:p.Leu121Ile, XP_011518715.1:p.Leu121Phe, XP_006718415.1:p.Leu44Ile, XP_006718415.1:p.Leu44Phe, XP_011518716.1:p.Leu121Ile, XP_011518716.1:p.Leu121Phe, NP_001338786.2:p.Leu44Ile, NP_001338786.2:p.Leu44Phe, NP_001338789.2:p.Leu52Ile, NP_001338789.2:p.Leu52Phe, NP_001338788.2:p.Leu44Ile, NP_001338788.2:p.Leu44Phe, NP_001338790.2:p.Leu44Ile, NP_001338790.2:p.Leu44Phe, NP_001338791.2:p.Leu121Ile, NP_001338791.2:p.Leu121Phe, NP_001338784.2:p.Leu121Ile, NP_001338784.2:p.Leu121Phe, NP_001338785.2:p.Leu121Ile, NP_001338785.2:p.Leu121Phe, NP_001338787.2:p.Leu44Ile, NP_001338787.2:p.Leu44Phe, NP_001338782.2:p.Leu121Ile, NP_001338782.2:p.Leu121Phe, NP_001338783.2:p.Leu121Ile, NP_001338783.2:p.Leu121Phe, XP_047283708.1:p.Leu52Ile, XP_047283708.1:p.Leu52Phe, XP_047283706.1:p.Leu121Ile, XP_047283706.1:p.Leu121Phe, XP_047283707.1:p.Leu121Ile, XP_047283707.1:p.Leu121Phe

                  9.

                  rs1481895472 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:7634544 (GRCh38)
                    11:7655775 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:7634543:G:A
                    Gene:
                    PPFIBP2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.7634544G>A, NC_000011.9:g.7655775G>A, NM_003621.5:c.1186G>A, NM_003621.4:c.1186G>A, NM_003621.3:c.1186G>A, XM_006718349.4:c.1186G>A, XM_006718349.3:c.1186G>A, XM_006718349.2:c.1186G>A, XM_006718349.1:c.1186G>A, XM_005253177.4:c.1186G>A, XM_005253177.3:c.1186G>A, XM_005253177.2:c.1186G>A, XM_005253177.1:c.1186G>A, XM_011520416.4:c.1186G>A, XM_011520416.3:c.1186G>A, XM_011520416.2:c.1186G>A, XM_011520416.1:c.1186G>A, XM_011520415.4:c.1186G>A, XM_011520415.3:c.1186G>A, XM_011520415.2:c.1186G>A, XM_011520415.1:c.1186G>A, XM_011520417.3:c.979G>A, XM_011520417.2:c.979G>A, XM_011520417.1:c.979G>A, XM_011520413.3:c.1186G>A, XM_011520413.2:c.1186G>A, XM_011520413.1:c.1186G>A, XM_006718352.3:c.955G>A, XM_006718352.2:c.955G>A, XM_006718352.1:c.955G>A, XM_011520414.3:c.1186G>A, XM_011520414.2:c.1186G>A, XM_011520414.1:c.1186G>A, XM_011520418.3:c.850G>A, XM_011520418.2:c.850G>A, XM_011520418.1:c.850G>A, XM_006718353.3:c.757G>A, XM_006718353.2:c.757G>A, XM_006718353.1:c.757G>A, NM_001351857.2:c.955G>A, NM_001351857.1:c.955G>A, NM_001351860.2:c.979G>A, NM_001351860.1:c.979G>A, XM_024448725.2:c.712G>A, XM_024448725.1:c.712G>A, NM_001351859.2:c.955G>A, NM_001351859.1:c.955G>A, NM_001351861.2:c.955G>A, NM_001351861.1:c.955G>A, NM_001351862.2:c.1186G>A, NM_001351862.1:c.1186G>A, NM_001351855.2:c.1186G>A, NM_001351855.1:c.1186G>A, NR_147792.2:n.1345G>A, NR_147792.1:n.1579G>A, NM_001351856.2:c.1192G>A, NM_001351856.1:c.1192G>A, NM_001351858.2:c.955G>A, NM_001351858.1:c.955G>A, NM_001351853.2:c.1186G>A, NM_001351853.1:c.1186G>A, NM_001351854.2:c.1186G>A, NM_001351854.1:c.1186G>A, NM_001256568.2:c.850G>A, NM_001256568.1:c.850G>A, NM_001256569.2:c.757G>A, NM_001256569.1:c.757G>A, XM_047427755.1:c.715G>A, XM_047427752.1:c.979G>A, XM_047427750.1:c.1186G>A, XM_047427753.1:c.850G>A, XM_047427756.1:c.712G>A, XM_047427754.1:c.757G>A, XM_047427751.1:c.1186G>A, NP_003612.3:p.Val396Met, XP_006718412.1:p.Val396Met, XP_005253234.1:p.Val396Met, XP_011518718.1:p.Val396Met, XP_011518717.1:p.Val396Met, XP_011518719.1:p.Val327Met, XP_011518715.1:p.Val396Met, XP_006718415.1:p.Val319Met, XP_011518716.1:p.Val396Met, XP_011518720.1:p.Val284Met, XP_006718416.1:p.Val253Met, NP_001338786.2:p.Val319Met, NP_001338789.2:p.Val327Met, XP_024304493.2:p.Val238Met, NP_001338788.2:p.Val319Met, NP_001338790.2:p.Val319Met, NP_001338791.2:p.Val396Met, NP_001338784.2:p.Val396Met, NP_001338785.2:p.Val398Met, NP_001338787.2:p.Val319Met, NP_001338782.2:p.Val396Met, NP_001338783.2:p.Val396Met, NP_001243497.2:p.Val284Met, NP_001243498.2:p.Val253Met, XP_047283711.1:p.Val239Met, XP_047283708.1:p.Val327Met, XP_047283706.1:p.Val396Met, XP_047283709.1:p.Val284Met, XP_047283712.1:p.Val238Met, XP_047283710.1:p.Val253Met, XP_047283707.1:p.Val396Met

                    10.

                    rs1480886936 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      11:7651696 (GRCh38)
                      11:7672927 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:7651695:T:C
                      Gene:
                      PPFIBP2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000011.10:g.7651696T>C, NC_000011.9:g.7672927T>C, NM_003621.5:c.2288T>C, NM_003621.4:c.2288T>C, NM_003621.3:c.2288T>C, XM_006718349.4:c.2321T>C, XM_006718349.3:c.2321T>C, XM_006718349.2:c.2321T>C, XM_006718349.1:c.2321T>C, XM_005253177.4:c.2288T>C, XM_005253177.3:c.2288T>C, XM_005253177.2:c.2288T>C, XM_005253177.1:c.2288T>C, XM_011520416.4:c.2321T>C, XM_011520416.3:c.2321T>C, XM_011520416.2:c.2321T>C, XM_011520416.1:c.2321T>C, XM_011520415.4:c.2321T>C, XM_011520415.3:c.2321T>C, XM_011520415.2:c.2321T>C, XM_011520415.1:c.2321T>C, XM_011520417.3:c.2114T>C, XM_011520417.2:c.2114T>C, XM_011520417.1:c.2114T>C, XM_011520413.3:c.2321T>C, XM_011520413.2:c.2321T>C, XM_011520413.1:c.2321T>C, XM_006718352.3:c.2057T>C, XM_006718352.2:c.2057T>C, XM_006718352.1:c.2057T>C, XM_011520414.3:c.2321T>C, XM_011520414.2:c.2321T>C, XM_011520414.1:c.2321T>C, XM_011520418.3:c.1985T>C, XM_011520418.2:c.1985T>C, XM_011520418.1:c.1985T>C, XM_006718353.3:c.1892T>C, XM_006718353.2:c.1892T>C, XM_006718353.1:c.1892T>C, NM_001351857.2:c.2090T>C, NM_001351857.1:c.2090T>C, NM_001351860.2:c.2081T>C, NM_001351860.1:c.2081T>C, XM_024448725.2:c.1814T>C, XM_024448725.1:c.1814T>C, NM_001351859.2:c.2090T>C, NM_001351859.1:c.2090T>C, NM_001351861.2:c.2057T>C, NM_001351861.1:c.2057T>C, NM_001351862.2:c.2288T>C, NM_001351862.1:c.2288T>C, NM_001351855.2:c.2321T>C, NM_001351855.1:c.2321T>C, NR_147792.2:n.2461T>C, NR_147792.1:n.2695T>C, NM_001351856.2:c.2294T>C, NM_001351856.1:c.2294T>C, NM_001351858.2:c.2057T>C, NM_001351858.1:c.2057T>C, NM_001351853.2:c.2321T>C, NM_001351853.1:c.2321T>C, NM_001351854.2:c.2288T>C, NM_001351854.1:c.2288T>C, NM_001256568.2:c.1952T>C, NM_001256568.1:c.1952T>C, NM_001256569.2:c.1859T>C, NM_001256569.1:c.1859T>C, XM_047427755.1:c.1850T>C, XM_047427752.1:c.2081T>C, XM_047427750.1:c.2288T>C, XM_047427753.1:c.1952T>C, XM_047427756.1:c.1814T>C, XM_047427754.1:c.1859T>C, XM_047427751.1:c.2288T>C, NP_003612.3:p.Leu763Pro, XP_006718412.1:p.Leu774Pro, XP_005253234.1:p.Leu763Pro, XP_011518718.1:p.Leu774Pro, XP_011518717.1:p.Leu774Pro, XP_011518719.1:p.Leu705Pro, XP_011518715.1:p.Leu774Pro, XP_006718415.1:p.Leu686Pro, XP_011518716.1:p.Leu774Pro, XP_011518720.1:p.Leu662Pro, XP_006718416.1:p.Leu631Pro, NP_001338786.2:p.Leu697Pro, NP_001338789.2:p.Leu694Pro, XP_024304493.2:p.Leu605Pro, NP_001338788.2:p.Leu697Pro, NP_001338790.2:p.Leu686Pro, NP_001338791.2:p.Leu763Pro, NP_001338784.2:p.Leu774Pro, NP_001338785.2:p.Leu765Pro, NP_001338787.2:p.Leu686Pro, NP_001338782.2:p.Leu774Pro, NP_001338783.2:p.Leu763Pro, NP_001243497.2:p.Leu651Pro, NP_001243498.2:p.Leu620Pro, XP_047283711.1:p.Leu617Pro, XP_047283708.1:p.Leu694Pro, XP_047283706.1:p.Leu763Pro, XP_047283709.1:p.Leu651Pro, XP_047283712.1:p.Leu605Pro, XP_047283710.1:p.Leu620Pro, XP_047283707.1:p.Leu763Pro

                      11.

                      rs1479209580 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:7641527 (GRCh38)
                        11:7662758 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:7641526:C:T
                        Gene:
                        PPFIBP2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0.000047/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.7641527C>T, NC_000011.9:g.7662758C>T, NM_003621.5:c.1424C>T, NM_003621.4:c.1424C>T, NM_003621.3:c.1424C>T, XM_006718349.4:c.1457C>T, XM_006718349.3:c.1457C>T, XM_006718349.2:c.1457C>T, XM_006718349.1:c.1457C>T, XM_005253177.4:c.1424C>T, XM_005253177.3:c.1424C>T, XM_005253177.2:c.1424C>T, XM_005253177.1:c.1424C>T, XM_011520416.4:c.1457C>T, XM_011520416.3:c.1457C>T, XM_011520416.2:c.1457C>T, XM_011520416.1:c.1457C>T, XM_011520415.4:c.1457C>T, XM_011520415.3:c.1457C>T, XM_011520415.2:c.1457C>T, XM_011520415.1:c.1457C>T, XM_011520417.3:c.1250C>T, XM_011520417.2:c.1250C>T, XM_011520417.1:c.1250C>T, XM_011520413.3:c.1457C>T, XM_011520413.2:c.1457C>T, XM_011520413.1:c.1457C>T, XM_006718352.3:c.1193C>T, XM_006718352.2:c.1193C>T, XM_006718352.1:c.1193C>T, XM_011520414.3:c.1457C>T, XM_011520414.2:c.1457C>T, XM_011520414.1:c.1457C>T, XM_011520418.3:c.1121C>T, XM_011520418.2:c.1121C>T, XM_011520418.1:c.1121C>T, XM_006718353.3:c.1028C>T, XM_006718353.2:c.1028C>T, XM_006718353.1:c.1028C>T, NM_001351857.2:c.1226C>T, NM_001351857.1:c.1226C>T, NM_001351860.2:c.1217C>T, NM_001351860.1:c.1217C>T, XM_024448725.2:c.950C>T, XM_024448725.1:c.950C>T, NM_001351859.2:c.1226C>T, NM_001351859.1:c.1226C>T, NM_001351861.2:c.1193C>T, NM_001351861.1:c.1193C>T, NM_001351862.2:c.1424C>T, NM_001351862.1:c.1424C>T, NM_001351855.2:c.1457C>T, NM_001351855.1:c.1457C>T, NR_147792.2:n.1616C>T, NR_147792.1:n.1850C>T, NM_001351856.2:c.1430C>T, NM_001351856.1:c.1430C>T, NM_001351858.2:c.1193C>T, NM_001351858.1:c.1193C>T, NM_001351853.2:c.1457C>T, NM_001351853.1:c.1457C>T, NM_001351854.2:c.1424C>T, NM_001351854.1:c.1424C>T, NM_001256568.2:c.1088C>T, NM_001256568.1:c.1088C>T, NM_001256569.2:c.995C>T, NM_001256569.1:c.995C>T, XM_047427755.1:c.986C>T, XM_047427752.1:c.1217C>T, XM_047427750.1:c.1424C>T, XM_047427753.1:c.1088C>T, XM_047427756.1:c.950C>T, XM_047427754.1:c.995C>T, XM_047427751.1:c.1424C>T, NP_003612.3:p.Ser475Leu, XP_006718412.1:p.Ser486Leu, XP_005253234.1:p.Ser475Leu, XP_011518718.1:p.Ser486Leu, XP_011518717.1:p.Ser486Leu, XP_011518719.1:p.Ser417Leu, XP_011518715.1:p.Ser486Leu, XP_006718415.1:p.Ser398Leu, XP_011518716.1:p.Ser486Leu, XP_011518720.1:p.Ser374Leu, XP_006718416.1:p.Ser343Leu, NP_001338786.2:p.Ser409Leu, NP_001338789.2:p.Ser406Leu, XP_024304493.2:p.Ser317Leu, NP_001338788.2:p.Ser409Leu, NP_001338790.2:p.Ser398Leu, NP_001338791.2:p.Ser475Leu, NP_001338784.2:p.Ser486Leu, NP_001338785.2:p.Ser477Leu, NP_001338787.2:p.Ser398Leu, NP_001338782.2:p.Ser486Leu, NP_001338783.2:p.Ser475Leu, NP_001243497.2:p.Ser363Leu, NP_001243498.2:p.Ser332Leu, XP_047283711.1:p.Ser329Leu, XP_047283708.1:p.Ser406Leu, XP_047283706.1:p.Ser475Leu, XP_047283709.1:p.Ser363Leu, XP_047283712.1:p.Ser317Leu, XP_047283710.1:p.Ser332Leu, XP_047283707.1:p.Ser475Leu

                        12.

                        rs1478259552 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          11:7625874 (GRCh38)
                          11:7647105 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:7625873:A:G
                          Gene:
                          PPFIBP2 (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.7625874A>G, NC_000011.9:g.7647105A>G, NM_003621.5:c.809A>G, NM_003621.4:c.809A>G, NM_003621.3:c.809A>G, XM_006718349.4:c.809A>G, XM_006718349.3:c.809A>G, XM_006718349.2:c.809A>G, XM_006718349.1:c.809A>G, XM_005253177.4:c.809A>G, XM_005253177.3:c.809A>G, XM_005253177.2:c.809A>G, XM_005253177.1:c.809A>G, XM_011520416.4:c.809A>G, XM_011520416.3:c.809A>G, XM_011520416.2:c.809A>G, XM_011520416.1:c.809A>G, XM_011520415.4:c.809A>G, XM_011520415.3:c.809A>G, XM_011520415.2:c.809A>G, XM_011520415.1:c.809A>G, XM_011520417.3:c.602A>G, XM_011520417.2:c.602A>G, XM_011520417.1:c.602A>G, XM_011520413.3:c.809A>G, XM_011520413.2:c.809A>G, XM_011520413.1:c.809A>G, XM_006718352.3:c.578A>G, XM_006718352.2:c.578A>G, XM_006718352.1:c.578A>G, XM_011520414.3:c.809A>G, XM_011520414.2:c.809A>G, XM_011520414.1:c.809A>G, XM_011520418.3:c.473A>G, XM_011520418.2:c.473A>G, XM_011520418.1:c.473A>G, XM_006718353.3:c.380A>G, XM_006718353.2:c.380A>G, XM_006718353.1:c.380A>G, NM_001351857.2:c.578A>G, NM_001351857.1:c.578A>G, NM_001351860.2:c.602A>G, NM_001351860.1:c.602A>G, XM_024448725.2:c.335A>G, XM_024448725.1:c.335A>G, NM_001351859.2:c.578A>G, NM_001351859.1:c.578A>G, NM_001351861.2:c.578A>G, NM_001351861.1:c.578A>G, NM_001351862.2:c.809A>G, NM_001351862.1:c.809A>G, NM_001351855.2:c.809A>G, NM_001351855.1:c.809A>G, NR_147792.2:n.968A>G, NR_147792.1:n.1202A>G, NM_001351856.2:c.815A>G, NM_001351856.1:c.815A>G, NM_001351858.2:c.578A>G, NM_001351858.1:c.578A>G, NM_001351853.2:c.809A>G, NM_001351853.1:c.809A>G, NM_001351854.2:c.809A>G, NM_001351854.1:c.809A>G, NM_001256568.2:c.473A>G, NM_001256568.1:c.473A>G, NM_001256569.2:c.380A>G, NM_001256569.1:c.380A>G, XM_047427755.1:c.338A>G, XM_047427752.1:c.602A>G, XM_047427750.1:c.809A>G, XM_047427753.1:c.473A>G, XM_047427756.1:c.335A>G, XM_047427754.1:c.380A>G, XM_047427751.1:c.809A>G, NP_003612.3:p.Glu270Gly, XP_006718412.1:p.Glu270Gly, XP_005253234.1:p.Glu270Gly, XP_011518718.1:p.Glu270Gly, XP_011518717.1:p.Glu270Gly, XP_011518719.1:p.Glu201Gly, XP_011518715.1:p.Glu270Gly, XP_006718415.1:p.Glu193Gly, XP_011518716.1:p.Glu270Gly, XP_011518720.1:p.Glu158Gly, XP_006718416.1:p.Glu127Gly, NP_001338786.2:p.Glu193Gly, NP_001338789.2:p.Glu201Gly, XP_024304493.2:p.Glu112Gly, NP_001338788.2:p.Glu193Gly, NP_001338790.2:p.Glu193Gly, NP_001338791.2:p.Glu270Gly, NP_001338784.2:p.Glu270Gly, NP_001338785.2:p.Glu272Gly, NP_001338787.2:p.Glu193Gly, NP_001338782.2:p.Glu270Gly, NP_001338783.2:p.Glu270Gly, NP_001243497.2:p.Glu158Gly, NP_001243498.2:p.Glu127Gly, XP_047283711.1:p.Glu113Gly, XP_047283708.1:p.Glu201Gly, XP_047283706.1:p.Glu270Gly, XP_047283709.1:p.Glu158Gly, XP_047283712.1:p.Glu112Gly, XP_047283710.1:p.Glu127Gly, XP_047283707.1:p.Glu270Gly

                          13.

                          rs1477761586 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:7648457 (GRCh38)
                            11:7669688 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:7648456:G:A
                            Gene:
                            PPFIBP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000084/1 (ALFA)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000011.10:g.7648457G>A, NC_000011.9:g.7669688G>A, NM_003621.5:c.1717G>A, NM_003621.4:c.1717G>A, NM_003621.3:c.1717G>A, XM_006718349.4:c.1750G>A, XM_006718349.3:c.1750G>A, XM_006718349.2:c.1750G>A, XM_006718349.1:c.1750G>A, XM_005253177.4:c.1717G>A, XM_005253177.3:c.1717G>A, XM_005253177.2:c.1717G>A, XM_005253177.1:c.1717G>A, XM_011520416.4:c.1750G>A, XM_011520416.3:c.1750G>A, XM_011520416.2:c.1750G>A, XM_011520416.1:c.1750G>A, XM_011520415.4:c.1750G>A, XM_011520415.3:c.1750G>A, XM_011520415.2:c.1750G>A, XM_011520415.1:c.1750G>A, XM_011520417.3:c.1543G>A, XM_011520417.2:c.1543G>A, XM_011520417.1:c.1543G>A, XM_011520413.3:c.1750G>A, XM_011520413.2:c.1750G>A, XM_011520413.1:c.1750G>A, XM_006718352.3:c.1486G>A, XM_006718352.2:c.1486G>A, XM_006718352.1:c.1486G>A, XM_011520414.3:c.1750G>A, XM_011520414.2:c.1750G>A, XM_011520414.1:c.1750G>A, XM_011520418.3:c.1414G>A, XM_011520418.2:c.1414G>A, XM_011520418.1:c.1414G>A, XM_006718353.3:c.1321G>A, XM_006718353.2:c.1321G>A, XM_006718353.1:c.1321G>A, NM_001351857.2:c.1519G>A, NM_001351857.1:c.1519G>A, NM_001351860.2:c.1510G>A, NM_001351860.1:c.1510G>A, XM_024448725.2:c.1243G>A, XM_024448725.1:c.1243G>A, NM_001351859.2:c.1519G>A, NM_001351859.1:c.1519G>A, NM_001351861.2:c.1486G>A, NM_001351861.1:c.1486G>A, NM_001351862.2:c.1717G>A, NM_001351862.1:c.1717G>A, NM_001351855.2:c.1750G>A, NM_001351855.1:c.1750G>A, NR_147792.2:n.1909G>A, NR_147792.1:n.2143G>A, NM_001351856.2:c.1723G>A, NM_001351856.1:c.1723G>A, NM_001351858.2:c.1486G>A, NM_001351858.1:c.1486G>A, NM_001351853.2:c.1750G>A, NM_001351853.1:c.1750G>A, NM_001351854.2:c.1717G>A, NM_001351854.1:c.1717G>A, NM_001256568.2:c.1381G>A, NM_001256568.1:c.1381G>A, NM_001256569.2:c.1288G>A, NM_001256569.1:c.1288G>A, XM_047427755.1:c.1279G>A, XM_047427752.1:c.1510G>A, XM_047427750.1:c.1717G>A, XM_047427753.1:c.1381G>A, XM_047427756.1:c.1243G>A, XM_047427754.1:c.1288G>A, XM_047427751.1:c.1717G>A, NP_003612.3:p.Ala573Thr, XP_006718412.1:p.Ala584Thr, XP_005253234.1:p.Ala573Thr, XP_011518718.1:p.Ala584Thr, XP_011518717.1:p.Ala584Thr, XP_011518719.1:p.Ala515Thr, XP_011518715.1:p.Ala584Thr, XP_006718415.1:p.Ala496Thr, XP_011518716.1:p.Ala584Thr, XP_011518720.1:p.Ala472Thr, XP_006718416.1:p.Ala441Thr, NP_001338786.2:p.Ala507Thr, NP_001338789.2:p.Ala504Thr, XP_024304493.2:p.Ala415Thr, NP_001338788.2:p.Ala507Thr, NP_001338790.2:p.Ala496Thr, NP_001338791.2:p.Ala573Thr, NP_001338784.2:p.Ala584Thr, NP_001338785.2:p.Ala575Thr, NP_001338787.2:p.Ala496Thr, NP_001338782.2:p.Ala584Thr, NP_001338783.2:p.Ala573Thr, NP_001243497.2:p.Ala461Thr, NP_001243498.2:p.Ala430Thr, XP_047283711.1:p.Ala427Thr, XP_047283708.1:p.Ala504Thr, XP_047283706.1:p.Ala573Thr, XP_047283709.1:p.Ala461Thr, XP_047283712.1:p.Ala415Thr, XP_047283710.1:p.Ala430Thr, XP_047283707.1:p.Ala573Thr

                            14.

                            rs1477258518 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:7650869 (GRCh38)
                              11:7672100 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:7650868:G:A
                              Gene:
                              PPFIBP2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000011.10:g.7650869G>A, NC_000011.9:g.7672100G>A, NM_003621.5:c.2151G>A, NM_003621.4:c.2151G>A, NM_003621.3:c.2151G>A, XM_006718349.4:c.2184G>A, XM_006718349.3:c.2184G>A, XM_006718349.2:c.2184G>A, XM_006718349.1:c.2184G>A, XM_005253177.4:c.2151G>A, XM_005253177.3:c.2151G>A, XM_005253177.2:c.2151G>A, XM_005253177.1:c.2151G>A, XM_011520416.4:c.2184G>A, XM_011520416.3:c.2184G>A, XM_011520416.2:c.2184G>A, XM_011520416.1:c.2184G>A, XM_011520415.4:c.2184G>A, XM_011520415.3:c.2184G>A, XM_011520415.2:c.2184G>A, XM_011520415.1:c.2184G>A, XM_011520417.3:c.1977G>A, XM_011520417.2:c.1977G>A, XM_011520417.1:c.1977G>A, XM_011520413.3:c.2184G>A, XM_011520413.2:c.2184G>A, XM_011520413.1:c.2184G>A, XM_006718352.3:c.1920G>A, XM_006718352.2:c.1920G>A, XM_006718352.1:c.1920G>A, XM_011520414.3:c.2184G>A, XM_011520414.2:c.2184G>A, XM_011520414.1:c.2184G>A, XM_011520418.3:c.1848G>A, XM_011520418.2:c.1848G>A, XM_011520418.1:c.1848G>A, XM_006718353.3:c.1755G>A, XM_006718353.2:c.1755G>A, XM_006718353.1:c.1755G>A, NM_001351857.2:c.1953G>A, NM_001351857.1:c.1953G>A, NM_001351860.2:c.1944G>A, NM_001351860.1:c.1944G>A, XM_024448725.2:c.1677G>A, XM_024448725.1:c.1677G>A, NM_001351859.2:c.1953G>A, NM_001351859.1:c.1953G>A, NM_001351861.2:c.1920G>A, NM_001351861.1:c.1920G>A, NM_001351862.2:c.2151G>A, NM_001351862.1:c.2151G>A, NM_001351855.2:c.2184G>A, NM_001351855.1:c.2184G>A, NR_147792.2:n.2324G>A, NR_147792.1:n.2558G>A, NM_001351856.2:c.2157G>A, NM_001351856.1:c.2157G>A, NM_001351858.2:c.1920G>A, NM_001351858.1:c.1920G>A, NM_001351853.2:c.2184G>A, NM_001351853.1:c.2184G>A, NM_001351854.2:c.2151G>A, NM_001351854.1:c.2151G>A, NM_001256568.2:c.1815G>A, NM_001256568.1:c.1815G>A, NM_001256569.2:c.1722G>A, NM_001256569.1:c.1722G>A, XM_047427755.1:c.1713G>A, XM_047427752.1:c.1944G>A, XM_047427750.1:c.2151G>A, XM_047427753.1:c.1815G>A, XM_047427756.1:c.1677G>A, XM_047427754.1:c.1722G>A, XM_047427751.1:c.2151G>A

                              15.

                              rs1476274736 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                11:7651765 (GRCh38)
                                11:7672996 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:7651764:G:C
                                Gene:
                                PPFIBP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000011.10:g.7651765G>C, NC_000011.9:g.7672996G>C, NM_003621.5:c.2357G>C, NM_003621.4:c.2357G>C, NM_003621.3:c.2357G>C, XM_006718349.4:c.2390G>C, XM_006718349.3:c.2390G>C, XM_006718349.2:c.2390G>C, XM_006718349.1:c.2390G>C, XM_005253177.4:c.2357G>C, XM_005253177.3:c.2357G>C, XM_005253177.2:c.2357G>C, XM_005253177.1:c.2357G>C, XM_011520416.4:c.2390G>C, XM_011520416.3:c.2390G>C, XM_011520416.2:c.2390G>C, XM_011520416.1:c.2390G>C, XM_011520415.4:c.2390G>C, XM_011520415.3:c.2390G>C, XM_011520415.2:c.2390G>C, XM_011520415.1:c.2390G>C, XM_011520417.3:c.2183G>C, XM_011520417.2:c.2183G>C, XM_011520417.1:c.2183G>C, XM_011520413.3:c.2390G>C, XM_011520413.2:c.2390G>C, XM_011520413.1:c.2390G>C, XM_006718352.3:c.2126G>C, XM_006718352.2:c.2126G>C, XM_006718352.1:c.2126G>C, XM_011520414.3:c.2390G>C, XM_011520414.2:c.2390G>C, XM_011520414.1:c.2390G>C, XM_011520418.3:c.2054G>C, XM_011520418.2:c.2054G>C, XM_011520418.1:c.2054G>C, XM_006718353.3:c.1961G>C, XM_006718353.2:c.1961G>C, XM_006718353.1:c.1961G>C, NM_001351857.2:c.2159G>C, NM_001351857.1:c.2159G>C, NM_001351860.2:c.2150G>C, NM_001351860.1:c.2150G>C, XM_024448725.2:c.1883G>C, XM_024448725.1:c.1883G>C, NM_001351859.2:c.2159G>C, NM_001351859.1:c.2159G>C, NM_001351861.2:c.2126G>C, NM_001351861.1:c.2126G>C, NM_001351862.2:c.2357G>C, NM_001351862.1:c.2357G>C, NM_001351855.2:c.2390G>C, NM_001351855.1:c.2390G>C, NR_147792.2:n.2530G>C, NR_147792.1:n.2764G>C, NM_001351856.2:c.2363G>C, NM_001351856.1:c.2363G>C, NM_001351858.2:c.2126G>C, NM_001351858.1:c.2126G>C, NM_001351853.2:c.2390G>C, NM_001351853.1:c.2390G>C, NM_001351854.2:c.2357G>C, NM_001351854.1:c.2357G>C, NM_001256568.2:c.2021G>C, NM_001256568.1:c.2021G>C, NM_001256569.2:c.1928G>C, NM_001256569.1:c.1928G>C, XM_047427755.1:c.1919G>C, XM_047427752.1:c.2150G>C, XM_047427750.1:c.2357G>C, XM_047427753.1:c.2021G>C, XM_047427756.1:c.1883G>C, XM_047427754.1:c.1928G>C, XM_047427751.1:c.2357G>C, NP_003612.3:p.Gly786Ala, XP_006718412.1:p.Gly797Ala, XP_005253234.1:p.Gly786Ala, XP_011518718.1:p.Gly797Ala, XP_011518717.1:p.Gly797Ala, XP_011518719.1:p.Gly728Ala, XP_011518715.1:p.Gly797Ala, XP_006718415.1:p.Gly709Ala, XP_011518716.1:p.Gly797Ala, XP_011518720.1:p.Gly685Ala, XP_006718416.1:p.Gly654Ala, NP_001338786.2:p.Gly720Ala, NP_001338789.2:p.Gly717Ala, XP_024304493.2:p.Gly628Ala, NP_001338788.2:p.Gly720Ala, NP_001338790.2:p.Gly709Ala, NP_001338791.2:p.Gly786Ala, NP_001338784.2:p.Gly797Ala, NP_001338785.2:p.Gly788Ala, NP_001338787.2:p.Gly709Ala, NP_001338782.2:p.Gly797Ala, NP_001338783.2:p.Gly786Ala, NP_001243497.2:p.Gly674Ala, NP_001243498.2:p.Gly643Ala, XP_047283711.1:p.Gly640Ala, XP_047283708.1:p.Gly717Ala, XP_047283706.1:p.Gly786Ala, XP_047283709.1:p.Gly674Ala, XP_047283712.1:p.Gly628Ala, XP_047283710.1:p.Gly643Ala, XP_047283707.1:p.Gly786Ala

                                16.

                                rs1476126306 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  11:7549524 (GRCh38)
                                  11:7570755 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:7549523:G:T
                                  Gene:
                                  PPFIBP2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  HGVS:
                                  NC_000011.10:g.7549524G>T, NC_000011.9:g.7570755G>T, NM_003621.5:c.49G>T, NM_003621.4:c.49G>T, NM_003621.3:c.49G>T, XM_006718349.4:c.49G>T, XM_006718349.3:c.49G>T, XM_006718349.2:c.49G>T, XM_006718349.1:c.49G>T, XM_005253177.4:c.49G>T, XM_005253177.3:c.49G>T, XM_005253177.2:c.49G>T, XM_005253177.1:c.49G>T, XM_011520416.4:c.49G>T, XM_011520416.3:c.49G>T, XM_011520416.2:c.49G>T, XM_011520416.1:c.49G>T, XM_011520415.4:c.49G>T, XM_011520415.3:c.49G>T, XM_011520415.2:c.49G>T, XM_011520415.1:c.49G>T, XM_011520413.3:c.49G>T, XM_011520413.2:c.49G>T, XM_011520413.1:c.49G>T, XM_011520414.3:c.49G>T, XM_011520414.2:c.49G>T, XM_011520414.1:c.49G>T, NM_001351862.2:c.49G>T, NM_001351862.1:c.49G>T, NM_001351855.2:c.49G>T, NM_001351855.1:c.49G>T, NR_147792.2:n.208G>T, NR_147792.1:n.442G>T, NM_001351856.2:c.49G>T, NM_001351856.1:c.49G>T, NM_001351853.2:c.49G>T, NM_001351853.1:c.49G>T, NM_001351854.2:c.49G>T, NM_001351854.1:c.49G>T, XM_047427750.1:c.49G>T, XM_047427751.1:c.49G>T, NP_003612.3:p.Asp17Tyr, XP_006718412.1:p.Asp17Tyr, XP_005253234.1:p.Asp17Tyr, XP_011518718.1:p.Asp17Tyr, XP_011518717.1:p.Asp17Tyr, XP_011518715.1:p.Asp17Tyr, XP_011518716.1:p.Asp17Tyr, NP_001338791.2:p.Asp17Tyr, NP_001338784.2:p.Asp17Tyr, NP_001338785.2:p.Asp17Tyr, NP_001338782.2:p.Asp17Tyr, NP_001338783.2:p.Asp17Tyr, XP_047283706.1:p.Asp17Tyr, XP_047283707.1:p.Asp17Tyr

                                  17.

                                  rs1475141692 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    11:7565719 (GRCh38)
                                    11:7586950 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:7565718:C:G
                                    Gene:
                                    PPFIBP2 (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 (GnomAD_exomes)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.7565719C>G, NC_000011.9:g.7586950C>G, NM_003621.5:c.231C>G, NM_003621.4:c.231C>G, NM_003621.3:c.231C>G, XM_006718349.4:c.231C>G, XM_006718349.3:c.231C>G, XM_006718349.2:c.231C>G, XM_006718349.1:c.231C>G, XM_005253177.4:c.231C>G, XM_005253177.3:c.231C>G, XM_005253177.2:c.231C>G, XM_005253177.1:c.231C>G, XM_011520416.4:c.231C>G, XM_011520416.3:c.231C>G, XM_011520416.2:c.231C>G, XM_011520416.1:c.231C>G, XM_011520415.4:c.231C>G, XM_011520415.3:c.231C>G, XM_011520415.2:c.231C>G, XM_011520415.1:c.231C>G, XM_011520413.3:c.231C>G, XM_011520413.2:c.231C>G, XM_011520413.1:c.231C>G, XM_011520414.3:c.231C>G, XM_011520414.2:c.231C>G, XM_011520414.1:c.231C>G, NM_001351862.2:c.231C>G, NM_001351862.1:c.231C>G, NM_001351855.2:c.231C>G, NM_001351855.1:c.231C>G, NR_147792.2:n.390C>G, NR_147792.1:n.624C>G, NM_001351856.2:c.231C>G, NM_001351856.1:c.231C>G, NM_001351853.2:c.231C>G, NM_001351853.1:c.231C>G, NM_001351854.2:c.231C>G, NM_001351854.1:c.231C>G, XM_047427750.1:c.231C>G, XM_047427751.1:c.231C>G, NP_003612.3:p.Ile77Met, XP_006718412.1:p.Ile77Met, XP_005253234.1:p.Ile77Met, XP_011518718.1:p.Ile77Met, XP_011518717.1:p.Ile77Met, XP_011518715.1:p.Ile77Met, XP_011518716.1:p.Ile77Met, NP_001338791.2:p.Ile77Met, NP_001338784.2:p.Ile77Met, NP_001338785.2:p.Ile77Met, NP_001338782.2:p.Ile77Met, NP_001338783.2:p.Ile77Met, XP_047283706.1:p.Ile77Met, XP_047283707.1:p.Ile77Met

                                    18.

                                    rs1475041879 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      11:7656744 (GRCh38)
                                      11:7677975 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:7656743:C:G,NC_000011.10:7656743:C:T
                                      Gene:
                                      PPFIBP2 (Varview)
                                      Functional Consequence:
                                      intron_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      T=0./0 (KOREAN)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000008/2 (TOPMED)
                                      G=0.000015/2 (GnomAD_exomes)
                                      T=0.000071/2 (TOMMO)
                                      HGVS:
                                      NC_000011.10:g.7656744C>G, NC_000011.10:g.7656744C>T, NC_000011.9:g.7677975C>G, NC_000011.9:g.7677975C>T, XM_006718349.4:c.2730C>G, XM_006718349.4:c.2730C>T, XM_006718349.3:c.2730C>G, XM_006718349.3:c.2730C>T, XM_006718349.2:c.2730C>G, XM_006718349.2:c.2730C>T, XM_006718349.1:c.2730C>G, XM_006718349.1:c.2730C>T, XM_005253177.4:c.2697C>G, XM_005253177.4:c.2697C>T, XM_005253177.3:c.2697C>G, XM_005253177.3:c.2697C>T, XM_005253177.2:c.2697C>G, XM_005253177.2:c.2697C>T, XM_005253177.1:c.2697C>G, XM_005253177.1:c.2697C>T, XM_011520416.4:c.2680C>G, XM_011520416.4:c.2680C>T, XM_011520416.3:c.2680C>G, XM_011520416.3:c.2680C>T, XM_011520416.2:c.2680C>G, XM_011520416.2:c.2680C>T, XM_011520416.1:c.2680C>G, XM_011520416.1:c.2680C>T, XM_011520417.3:c.2523C>G, XM_011520417.3:c.2523C>T, XM_011520417.2:c.2523C>G, XM_011520417.2:c.2523C>T, XM_011520417.1:c.2523C>G, XM_011520417.1:c.2523C>T, XM_011520413.3:c.2730C>G, XM_011520413.3:c.2730C>T, XM_011520413.2:c.2730C>G, XM_011520413.2:c.2730C>T, XM_011520413.1:c.2730C>G, XM_011520413.1:c.2730C>T, XM_006718352.3:c.2466C>G, XM_006718352.3:c.2466C>T, XM_006718352.2:c.2466C>G, XM_006718352.2:c.2466C>T, XM_006718352.1:c.2466C>G, XM_006718352.1:c.2466C>T, XM_011520414.3:c.2730C>G, XM_011520414.3:c.2730C>T, XM_011520414.2:c.2730C>G, XM_011520414.2:c.2730C>T, XM_011520414.1:c.2730C>G, XM_011520414.1:c.2730C>T, XM_011520418.3:c.2394C>G, XM_011520418.3:c.2394C>T, XM_011520418.2:c.2394C>G, XM_011520418.2:c.2394C>T, XM_011520418.1:c.2394C>G, XM_011520418.1:c.2394C>T, XM_006718353.3:c.2301C>G, XM_006718353.3:c.2301C>T, XM_006718353.2:c.2301C>G, XM_006718353.2:c.2301C>T, XM_006718353.1:c.2301C>G, XM_006718353.1:c.2301C>T, NM_001351857.2:c.2499C>G, NM_001351857.2:c.2499C>T, NM_001351857.1:c.2499C>G, NM_001351857.1:c.2499C>T, XM_024448725.2:c.2223C>G, XM_024448725.2:c.2223C>T, XM_047427755.1:c.2259C>G, XM_047427755.1:c.2259C>T, XM_047427752.1:c.2490C>G, XM_047427752.1:c.2490C>T, XM_047427750.1:c.2697C>G, XM_047427750.1:c.2697C>T, XM_047427753.1:c.2361C>G, XM_047427753.1:c.2361C>T, XM_047427756.1:c.2223C>G, XM_047427756.1:c.2223C>T, XM_047427754.1:c.2268C>G, XM_047427754.1:c.2268C>T, XP_006718412.1:p.Asp910Glu, XP_005253234.1:p.Asp899Glu, XP_011518718.1:p.Pro894Ala, XP_011518718.1:p.Pro894Ser, XP_011518719.1:p.Asp841Glu, XP_011518715.1:p.Asp910Glu, XP_006718415.1:p.Asp822Glu, XP_011518716.1:p.Asp910Glu, XP_011518720.1:p.Asp798Glu, XP_006718416.1:p.Asp767Glu, NP_001338786.2:p.Asp833Glu, XP_024304493.2:p.Asp741Glu, XP_047283711.1:p.Asp753Glu, XP_047283708.1:p.Asp830Glu, XP_047283706.1:p.Asp899Glu, XP_047283709.1:p.Asp787Glu, XP_047283712.1:p.Asp741Glu, XP_047283710.1:p.Asp756Glu

                                      19.

                                      rs1474161408 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:7593144 (GRCh38)
                                        11:7614375 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:7593143:C:T
                                        Gene:
                                        PPFIBP2 (Varview), LOC105376535 (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.7593144C>T, NC_000011.9:g.7614375C>T, NM_003621.5:c.292C>T, NM_003621.4:c.292C>T, NM_003621.3:c.292C>T, XM_006718349.4:c.292C>T, XM_006718349.3:c.292C>T, XM_006718349.2:c.292C>T, XM_006718349.1:c.292C>T, XM_005253177.4:c.292C>T, XM_005253177.3:c.292C>T, XM_005253177.2:c.292C>T, XM_005253177.1:c.292C>T, XM_011520416.4:c.292C>T, XM_011520416.3:c.292C>T, XM_011520416.2:c.292C>T, XM_011520416.1:c.292C>T, XM_011520415.4:c.292C>T, XM_011520415.3:c.292C>T, XM_011520415.2:c.292C>T, XM_011520415.1:c.292C>T, XM_011520417.3:c.85C>T, XM_011520417.2:c.85C>T, XM_011520417.1:c.85C>T, XM_011520413.3:c.292C>T, XM_011520413.2:c.292C>T, XM_011520413.1:c.292C>T, XM_006718352.3:c.61C>T, XM_006718352.2:c.61C>T, XM_006718352.1:c.61C>T, XM_011520414.3:c.292C>T, XM_011520414.2:c.292C>T, XM_011520414.1:c.292C>T, NM_001351857.2:c.61C>T, NM_001351857.1:c.61C>T, NM_001351860.2:c.85C>T, NM_001351860.1:c.85C>T, XM_024448725.2:c.-183C>T, XM_024448725.1:c.-183C>T, NM_001351859.2:c.61C>T, NM_001351859.1:c.61C>T, NM_001351861.2:c.61C>T, NM_001351861.1:c.61C>T, NM_001351862.2:c.292C>T, NM_001351862.1:c.292C>T, NM_001351855.2:c.292C>T, NM_001351855.1:c.292C>T, NR_147792.2:n.451C>T, NR_147792.1:n.685C>T, NM_001351856.2:c.292C>T, NM_001351856.1:c.292C>T, NM_001351858.2:c.61C>T, NM_001351858.1:c.61C>T, NM_001351853.2:c.292C>T, NM_001351853.1:c.292C>T, NM_001351854.2:c.292C>T, NM_001351854.1:c.292C>T, XM_047427752.1:c.85C>T, XM_047427750.1:c.292C>T, XM_047427756.1:c.-183C>T, XM_047427751.1:c.292C>T, NP_003612.3:p.His98Tyr, XP_006718412.1:p.His98Tyr, XP_005253234.1:p.His98Tyr, XP_011518718.1:p.His98Tyr, XP_011518717.1:p.His98Tyr, XP_011518719.1:p.His29Tyr, XP_011518715.1:p.His98Tyr, XP_006718415.1:p.His21Tyr, XP_011518716.1:p.His98Tyr, NP_001338786.2:p.His21Tyr, NP_001338789.2:p.His29Tyr, NP_001338788.2:p.His21Tyr, NP_001338790.2:p.His21Tyr, NP_001338791.2:p.His98Tyr, NP_001338784.2:p.His98Tyr, NP_001338785.2:p.His98Tyr, NP_001338787.2:p.His21Tyr, NP_001338782.2:p.His98Tyr, NP_001338783.2:p.His98Tyr, XP_047283708.1:p.His29Tyr, XP_047283706.1:p.His98Tyr, XP_047283707.1:p.His98Tyr

                                        20.

                                        rs1473379012 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          11:7655465 (GRCh38)
                                          11:7676696 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:7655464:A:C
                                          Gene:
                                          PPFIBP2 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000007/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.7655465A>C, NC_000011.9:g.7676696A>C, XM_006718349.4:c.2679A>C, XM_006718349.3:c.2679A>C, XM_006718349.2:c.2679A>C, XM_006718349.1:c.2679A>C, XM_005253177.4:c.2646A>C, XM_005253177.3:c.2646A>C, XM_005253177.2:c.2646A>C, XM_005253177.1:c.2646A>C, XM_011520417.3:c.2472A>C, XM_011520417.2:c.2472A>C, XM_011520417.1:c.2472A>C, XM_011520413.3:c.2679A>C, XM_011520413.2:c.2679A>C, XM_011520413.1:c.2679A>C, XM_006718352.3:c.2415A>C, XM_006718352.2:c.2415A>C, XM_006718352.1:c.2415A>C, XM_011520414.3:c.2679A>C, XM_011520414.2:c.2679A>C, XM_011520414.1:c.2679A>C, XM_011520418.3:c.2343A>C, XM_011520418.2:c.2343A>C, XM_011520418.1:c.2343A>C, XM_006718353.3:c.2250A>C, XM_006718353.2:c.2250A>C, XM_006718353.1:c.2250A>C, NM_001351857.2:c.2448A>C, NM_001351857.1:c.2448A>C, XM_024448725.2:c.2172A>C, XM_047427755.1:c.2208A>C, XM_047427752.1:c.2439A>C, XM_047427750.1:c.2646A>C, XM_047427753.1:c.2310A>C, XM_047427756.1:c.2172A>C, XM_047427754.1:c.2217A>C

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