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Items: 1 to 20 of 569

1.

rs1490232438 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    17:82056341 (GRCh38)
    17:80014217 (GRCh37)
    Canonical SPDI:
    NC_000017.11:82056340:T:A
    Gene:
    GPS1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.82056341T>A, NC_000017.10:g.80014217T>A, NM_004127.7:c.997T>A, NM_004127.6:c.997T>A, NM_004127.5:c.997T>A, NM_004127.4:c.997T>A, XM_005256360.5:c.985T>A, XM_005256360.4:c.985T>A, XM_005256360.3:c.985T>A, XM_005256360.2:c.985T>A, XM_005256360.1:c.985T>A, NM_212492.4:c.1105T>A, NM_212492.3:c.1105T>A, NM_212492.2:c.1105T>A, NM_212492.1:c.1105T>A, NM_001321089.3:c.1201T>A, NM_001321089.2:c.1201T>A, NM_001321089.1:c.1201T>A, NM_001321090.3:c.1189T>A, NM_001321090.2:c.1189T>A, NM_001321090.1:c.1189T>A, NM_001321091.3:c.1186T>A, NM_001321091.2:c.1186T>A, NM_001321091.1:c.1186T>A, XM_017024524.3:c.946T>A, XM_017024524.2:c.946T>A, XM_017024524.1:c.946T>A, XM_017024531.3:c.934T>A, XM_017024531.2:c.934T>A, XM_017024531.1:c.934T>A, XM_005256359.3:c.997T>A, XM_005256359.2:c.997T>A, XM_005256359.1:c.997T>A, NM_001321093.3:c.937T>A, NM_001321093.2:c.937T>A, NM_001321093.1:c.937T>A, XM_017024527.3:c.982T>A, XM_017024527.2:c.982T>A, XM_017024527.1:c.982T>A, NM_001330541.3:c.994T>A, NM_001330541.2:c.994T>A, NM_001330541.1:c.994T>A, NM_001321092.3:c.985T>A, NM_001321092.2:c.985T>A, NM_001321092.1:c.985T>A, NM_001330539.3:c.982T>A, NM_001330539.2:c.982T>A, NM_001330539.1:c.982T>A, XM_005256350.2:c.1201T>A, XM_005256350.1:c.1201T>A, XM_005256353.2:c.1189T>A, XM_005256353.1:c.1189T>A, XM_017024525.2:c.1186T>A, XM_017024525.1:c.1186T>A, XM_047435833.1:c.1198T>A, XM_047435831.1:c.1198T>A, XM_047435841.1:c.1117T>A, XM_047435835.1:c.1186T>A, XM_047435845.1:c.1105T>A, XM_047435838.1:c.1198T>A, NM_001394759.1:c.1198T>A, XM_047435840.1:c.1195T>A, NM_001394760.1:c.1117T>A, XM_047435842.1:c.1186T>A, XM_047435843.1:c.1183T>A, XM_047435847.1:c.1105T>A, NM_001394761.1:c.1102T>A, XM_047435849.1:c.949T>A, XM_047435829.1:c.949T>A, XM_047435853.1:c.937T>A, XM_047435830.1:c.937T>A, XM_047435832.1:c.934T>A, NM_001394763.1:c.961T>A, NM_001394765.1:c.949T>A, NM_001394767.1:c.949T>A, NM_001394768.1:c.946T>A, NM_001394769.1:c.937T>A, XM_047435836.1:c.949T>A, XM_047435848.1:c.994T>A, XM_047435837.1:c.946T>A, XM_047435850.1:c.949T>A, NM_001394773.1:c.934T>A, XM_047435851.1:c.946T>A, NM_001394770.1:c.937T>A, XM_047435839.1:c.934T>A, XM_047435854.1:c.937T>A, NM_001394776.1:c.961T>A, NM_001394762.1:c.961T>A, NM_001394764.1:c.958T>A, XM_047435846.1:c.961T>A, NM_001394766.1:c.949T>A, XM_047435855.1:c.946T>A, NM_001394771.1:c.937T>A, NM_001394772.1:c.934T>A, NM_001394774.1:c.997T>A, NM_001394775.1:c.985T>A, NM_001394777.1:c.997T>A, NP_004118.3:p.Phe333Ile, XP_005256417.1:p.Phe329Ile, NP_997657.1:p.Phe369Ile, NP_001308018.1:p.Phe401Ile, NP_001308019.1:p.Phe397Ile, NP_001308020.1:p.Phe396Ile, XP_016880013.1:p.Phe316Ile, XP_016880020.1:p.Phe312Ile, XP_005256416.1:p.Phe333Ile, NP_001308022.1:p.Phe313Ile, XP_016880016.1:p.Phe328Ile, NP_001317470.1:p.Phe332Ile, NP_001308021.1:p.Phe329Ile, NP_001317468.1:p.Phe328Ile, XP_005256407.1:p.Phe401Ile, XP_005256410.1:p.Phe397Ile, XP_016880014.1:p.Phe396Ile, XP_047291789.1:p.Phe400Ile, XP_047291787.1:p.Phe400Ile, XP_047291797.1:p.Phe373Ile, XP_047291791.1:p.Phe396Ile, XP_047291801.1:p.Phe369Ile, XP_047291794.1:p.Phe400Ile, NP_001381688.1:p.Phe400Ile, XP_047291796.1:p.Phe399Ile, NP_001381689.1:p.Phe373Ile, XP_047291798.1:p.Phe396Ile, XP_047291799.1:p.Phe395Ile, XP_047291803.1:p.Phe369Ile, NP_001381690.1:p.Phe368Ile, XP_047291805.1:p.Phe317Ile, XP_047291785.1:p.Phe317Ile, XP_047291809.1:p.Phe313Ile, XP_047291786.1:p.Phe313Ile, XP_047291788.1:p.Phe312Ile, NP_001381692.1:p.Phe321Ile, NP_001381694.1:p.Phe317Ile, NP_001381696.1:p.Phe317Ile, NP_001381697.1:p.Phe316Ile, NP_001381698.1:p.Phe313Ile, XP_047291792.1:p.Phe317Ile, XP_047291804.1:p.Phe332Ile, XP_047291793.1:p.Phe316Ile, XP_047291806.1:p.Phe317Ile, NP_001381702.1:p.Phe312Ile, XP_047291807.1:p.Phe316Ile, NP_001381699.1:p.Phe313Ile, XP_047291795.1:p.Phe312Ile, XP_047291810.1:p.Phe313Ile, NP_001381705.1:p.Phe321Ile, NP_001381691.1:p.Phe321Ile, NP_001381693.1:p.Phe320Ile, XP_047291802.1:p.Phe321Ile, NP_001381695.1:p.Phe317Ile, XP_047291811.1:p.Phe316Ile, NP_001381700.1:p.Phe313Ile, NP_001381701.1:p.Phe312Ile, NP_001381703.1:p.Phe333Ile, NP_001381704.1:p.Phe329Ile, NP_001381706.1:p.Phe333Ile

    2.

    rs1488753666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:82056081 (GRCh38)
      17:80013957 (GRCh37)
      Canonical SPDI:
      NC_000017.11:82056080:T:C
      Gene:
      GPS1 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant
      HGVS:
      NC_000017.11:g.82056081T>C, NC_000017.10:g.80013957T>C, NM_004127.7:c.927T>C, NM_004127.6:c.927T>C, NM_004127.5:c.927T>C, NM_004127.4:c.927T>C, XM_005256360.5:c.915T>C, XM_005256360.4:c.915T>C, XM_005256360.3:c.915T>C, XM_005256360.2:c.915T>C, XM_005256360.1:c.915T>C, NM_212492.4:c.1035T>C, NM_212492.3:c.1035T>C, NM_212492.2:c.1035T>C, NM_212492.1:c.1035T>C, NM_001321089.3:c.1131T>C, NM_001321089.2:c.1131T>C, NM_001321089.1:c.1131T>C, NM_001321090.3:c.1119T>C, NM_001321090.2:c.1119T>C, NM_001321090.1:c.1119T>C, NM_001321091.3:c.1116T>C, NM_001321091.2:c.1116T>C, NM_001321091.1:c.1116T>C, XM_017024524.3:c.876T>C, XM_017024524.2:c.876T>C, XM_017024524.1:c.876T>C, XM_017024531.3:c.864T>C, XM_017024531.2:c.864T>C, XM_017024531.1:c.864T>C, XM_005256359.3:c.927T>C, XM_005256359.2:c.927T>C, XM_005256359.1:c.927T>C, NM_001321093.3:c.867T>C, NM_001321093.2:c.867T>C, NM_001321093.1:c.867T>C, XM_017024527.3:c.912T>C, XM_017024527.2:c.912T>C, XM_017024527.1:c.912T>C, NM_001330541.3:c.924T>C, NM_001330541.2:c.924T>C, NM_001330541.1:c.924T>C, NM_001321092.3:c.915T>C, NM_001321092.2:c.915T>C, NM_001321092.1:c.915T>C, NM_001330539.3:c.912T>C, NM_001330539.2:c.912T>C, NM_001330539.1:c.912T>C, XM_005256350.2:c.1131T>C, XM_005256350.1:c.1131T>C, XM_005256353.2:c.1119T>C, XM_005256353.1:c.1119T>C, XM_017024525.2:c.1116T>C, XM_017024525.1:c.1116T>C, XM_047435833.1:c.1128T>C, XM_047435831.1:c.1128T>C, XM_047435841.1:c.1047T>C, XM_047435835.1:c.1116T>C, XM_047435845.1:c.1035T>C, XM_047435838.1:c.1128T>C, NM_001394759.1:c.1128T>C, XM_047435840.1:c.1125T>C, NM_001394760.1:c.1047T>C, XM_047435842.1:c.1116T>C, XM_047435843.1:c.1113T>C, XM_047435847.1:c.1035T>C, NM_001394761.1:c.1032T>C, XM_047435849.1:c.879T>C, XM_047435829.1:c.879T>C, XM_047435853.1:c.867T>C, XM_047435830.1:c.867T>C, XM_047435832.1:c.864T>C, NM_001394763.1:c.891T>C, NM_001394765.1:c.879T>C, NM_001394767.1:c.879T>C, NM_001394768.1:c.876T>C, NM_001394769.1:c.867T>C, XM_047435836.1:c.879T>C, XM_047435848.1:c.924T>C, XM_047435837.1:c.876T>C, XM_047435850.1:c.879T>C, NM_001394773.1:c.864T>C, XM_047435851.1:c.876T>C, NM_001394770.1:c.867T>C, XM_047435839.1:c.864T>C, XM_047435854.1:c.867T>C, NM_001394776.1:c.891T>C, NM_001394762.1:c.891T>C, NM_001394764.1:c.888T>C, XM_047435846.1:c.891T>C, NM_001394766.1:c.879T>C, XM_047435855.1:c.876T>C, NM_001394771.1:c.867T>C, NM_001394772.1:c.864T>C, NM_001394774.1:c.927T>C, NM_001394775.1:c.915T>C, NM_001394777.1:c.927T>C

      3.

      rs1485907116 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:82053909 (GRCh38)
        17:80011785 (GRCh37)
        Canonical SPDI:
        NC_000017.11:82053908:C:T
        Gene:
        GPS1 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.82053909C>T, NC_000017.10:g.80011785C>T, NM_004127.7:c.168C>T, NM_004127.6:c.168C>T, NM_004127.5:c.168C>T, NM_004127.4:c.168C>T, XM_005256360.5:c.168C>T, XM_005256360.4:c.168C>T, XM_005256360.3:c.168C>T, XM_005256360.2:c.168C>T, XM_005256360.1:c.168C>T, NM_212492.4:c.288C>T, NM_212492.3:c.288C>T, NM_212492.2:c.288C>T, NM_212492.1:c.288C>T, NM_001321089.3:c.372C>T, NM_001321089.2:c.372C>T, NM_001321089.1:c.372C>T, NM_001321090.3:c.372C>T, NM_001321090.2:c.372C>T, NM_001321090.1:c.372C>T, NM_001321091.3:c.372C>T, NM_001321091.2:c.372C>T, NM_001321091.1:c.372C>T, XM_017024524.3:c.120C>T, XM_017024524.2:c.120C>T, XM_017024524.1:c.120C>T, XM_017024531.3:c.120C>T, XM_017024531.2:c.120C>T, XM_017024531.1:c.120C>T, XM_005256359.3:c.168C>T, XM_005256359.2:c.168C>T, XM_005256359.1:c.168C>T, NM_001321093.3:c.120C>T, NM_001321093.2:c.120C>T, NM_001321093.1:c.120C>T, XM_017024527.3:c.168C>T, XM_017024527.2:c.168C>T, XM_017024527.1:c.168C>T, NM_001330541.3:c.168C>T, NM_001330541.2:c.168C>T, NM_001330541.1:c.168C>T, NM_001321092.3:c.168C>T, NM_001321092.2:c.168C>T, NM_001321092.1:c.168C>T, NM_001330539.3:c.168C>T, NM_001330539.2:c.168C>T, NM_001330539.1:c.168C>T, XM_005256350.2:c.372C>T, XM_005256350.1:c.372C>T, XM_005256353.2:c.372C>T, XM_005256353.1:c.372C>T, XM_017024525.2:c.372C>T, XM_017024525.1:c.372C>T, XM_047435833.1:c.369C>T, XM_047435831.1:c.372C>T, XM_047435841.1:c.288C>T, XM_047435835.1:c.369C>T, XM_047435845.1:c.288C>T, XM_047435838.1:c.369C>T, NM_001394759.1:c.372C>T, XM_047435840.1:c.369C>T, NM_001394760.1:c.288C>T, XM_047435842.1:c.369C>T, XM_047435843.1:c.369C>T, XM_047435847.1:c.288C>T, NM_001394761.1:c.288C>T, XM_047435849.1:c.120C>T, XM_047435829.1:c.120C>T, XM_047435853.1:c.120C>T, XM_047435830.1:c.120C>T, XM_047435832.1:c.120C>T, NM_001394763.1:c.144C>T, NM_001394765.1:c.120C>T, NM_001394767.1:c.120C>T, NM_001394768.1:c.120C>T, NM_001394769.1:c.120C>T, XM_047435836.1:c.120C>T, XM_047435848.1:c.168C>T, XM_047435837.1:c.120C>T, XM_047435850.1:c.120C>T, NM_001394773.1:c.120C>T, XM_047435851.1:c.120C>T, NM_001394770.1:c.120C>T, XM_047435839.1:c.120C>T, XM_047435854.1:c.120C>T, NM_001394776.1:c.144C>T, NM_001394762.1:c.144C>T, NM_001394764.1:c.144C>T, XM_047435846.1:c.144C>T, NM_001394766.1:c.120C>T, XM_047435855.1:c.120C>T, NM_001394771.1:c.120C>T, NM_001394772.1:c.120C>T, NM_001394774.1:c.168C>T, NM_001394775.1:c.168C>T, NM_001394777.1:c.168C>T

        4.

        rs1485097123 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          17:82054557 (GRCh38)
          17:80012433 (GRCh37)
          Canonical SPDI:
          NC_000017.11:82054556:C:A,NC_000017.11:82054556:C:T
          Gene:
          GPS1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000017.11:g.82054557C>A, NC_000017.11:g.82054557C>T, NC_000017.10:g.80012433C>A, NC_000017.10:g.80012433C>T, NM_004127.7:c.368C>A, NM_004127.7:c.368C>T, NM_004127.6:c.368C>A, NM_004127.6:c.368C>T, NM_004127.5:c.368C>A, NM_004127.5:c.368C>T, NM_004127.4:c.368C>A, NM_004127.4:c.368C>T, XM_005256360.5:c.356C>A, XM_005256360.5:c.356C>T, XM_005256360.4:c.356C>A, XM_005256360.4:c.356C>T, XM_005256360.3:c.356C>A, XM_005256360.3:c.356C>T, XM_005256360.2:c.356C>A, XM_005256360.2:c.356C>T, XM_005256360.1:c.356C>A, XM_005256360.1:c.356C>T, NM_212492.4:c.476C>A, NM_212492.4:c.476C>T, NM_212492.3:c.476C>A, NM_212492.3:c.476C>T, NM_212492.2:c.476C>A, NM_212492.2:c.476C>T, NM_212492.1:c.476C>A, NM_212492.1:c.476C>T, NM_001321089.3:c.572C>A, NM_001321089.3:c.572C>T, NM_001321089.2:c.572C>A, NM_001321089.2:c.572C>T, NM_001321089.1:c.572C>A, NM_001321089.1:c.572C>T, NM_001321090.3:c.560C>A, NM_001321090.3:c.560C>T, NM_001321090.2:c.560C>A, NM_001321090.2:c.560C>T, NM_001321090.1:c.560C>A, NM_001321090.1:c.560C>T, NM_001321091.3:c.560C>A, NM_001321091.3:c.560C>T, NM_001321091.2:c.560C>A, NM_001321091.2:c.560C>T, NM_001321091.1:c.560C>A, NM_001321091.1:c.560C>T, XM_017024524.3:c.320C>A, XM_017024524.3:c.320C>T, XM_017024524.2:c.320C>A, XM_017024524.2:c.320C>T, XM_017024524.1:c.320C>A, XM_017024524.1:c.320C>T, XM_017024531.3:c.308C>A, XM_017024531.3:c.308C>T, XM_017024531.2:c.308C>A, XM_017024531.2:c.308C>T, XM_017024531.1:c.308C>A, XM_017024531.1:c.308C>T, XM_005256359.3:c.368C>A, XM_005256359.3:c.368C>T, XM_005256359.2:c.368C>A, XM_005256359.2:c.368C>T, XM_005256359.1:c.368C>A, XM_005256359.1:c.368C>T, NM_001321093.3:c.308C>A, NM_001321093.3:c.308C>T, NM_001321093.2:c.308C>A, NM_001321093.2:c.308C>T, NM_001321093.1:c.308C>A, NM_001321093.1:c.308C>T, XM_017024527.3:c.356C>A, XM_017024527.3:c.356C>T, XM_017024527.2:c.356C>A, XM_017024527.2:c.356C>T, XM_017024527.1:c.356C>A, XM_017024527.1:c.356C>T, NM_001330541.3:c.368C>A, NM_001330541.3:c.368C>T, NM_001330541.2:c.368C>A, NM_001330541.2:c.368C>T, NM_001330541.1:c.368C>A, NM_001330541.1:c.368C>T, NM_001321092.3:c.356C>A, NM_001321092.3:c.356C>T, NM_001321092.2:c.356C>A, NM_001321092.2:c.356C>T, NM_001321092.1:c.356C>A, NM_001321092.1:c.356C>T, NM_001330539.3:c.356C>A, NM_001330539.3:c.356C>T, NM_001330539.2:c.356C>A, NM_001330539.2:c.356C>T, NM_001330539.1:c.356C>A, NM_001330539.1:c.356C>T, XM_005256350.2:c.572C>A, XM_005256350.2:c.572C>T, XM_005256350.1:c.572C>A, XM_005256350.1:c.572C>T, XM_005256353.2:c.560C>A, XM_005256353.2:c.560C>T, XM_005256353.1:c.560C>A, XM_005256353.1:c.560C>T, XM_017024525.2:c.560C>A, XM_017024525.2:c.560C>T, XM_017024525.1:c.560C>A, XM_017024525.1:c.560C>T, XM_047435833.1:c.569C>A, XM_047435833.1:c.569C>T, XM_047435831.1:c.572C>A, XM_047435831.1:c.572C>T, XM_047435841.1:c.488C>A, XM_047435841.1:c.488C>T, XM_047435835.1:c.557C>A, XM_047435835.1:c.557C>T, XM_047435845.1:c.476C>A, XM_047435845.1:c.476C>T, XM_047435838.1:c.569C>A, XM_047435838.1:c.569C>T, NM_001394759.1:c.572C>A, NM_001394759.1:c.572C>T, XM_047435840.1:c.569C>A, XM_047435840.1:c.569C>T, NM_001394760.1:c.488C>A, NM_001394760.1:c.488C>T, XM_047435842.1:c.557C>A, XM_047435842.1:c.557C>T, XM_047435843.1:c.557C>A, XM_047435843.1:c.557C>T, XM_047435847.1:c.476C>A, XM_047435847.1:c.476C>T, NM_001394761.1:c.476C>A, NM_001394761.1:c.476C>T, XM_047435849.1:c.320C>A, XM_047435849.1:c.320C>T, XM_047435829.1:c.320C>A, XM_047435829.1:c.320C>T, XM_047435853.1:c.308C>A, XM_047435853.1:c.308C>T, XM_047435830.1:c.308C>A, XM_047435830.1:c.308C>T, XM_047435832.1:c.308C>A, XM_047435832.1:c.308C>T, NM_001394763.1:c.332C>A, NM_001394763.1:c.332C>T, NM_001394765.1:c.320C>A, NM_001394765.1:c.320C>T, NM_001394767.1:c.320C>A, NM_001394767.1:c.320C>T, NM_001394768.1:c.320C>A, NM_001394768.1:c.320C>T, NM_001394769.1:c.308C>A, NM_001394769.1:c.308C>T, XM_047435836.1:c.320C>A, XM_047435836.1:c.320C>T, XM_047435848.1:c.368C>A, XM_047435848.1:c.368C>T, XM_047435837.1:c.320C>A, XM_047435837.1:c.320C>T, XM_047435850.1:c.320C>A, XM_047435850.1:c.320C>T, NM_001394773.1:c.308C>A, NM_001394773.1:c.308C>T, XM_047435851.1:c.320C>A, XM_047435851.1:c.320C>T, NM_001394770.1:c.308C>A, NM_001394770.1:c.308C>T, XM_047435839.1:c.308C>A, XM_047435839.1:c.308C>T, XM_047435854.1:c.308C>A, XM_047435854.1:c.308C>T, NM_001394776.1:c.332C>A, NM_001394776.1:c.332C>T, NM_001394762.1:c.332C>A, NM_001394762.1:c.332C>T, NM_001394764.1:c.332C>A, NM_001394764.1:c.332C>T, XM_047435846.1:c.332C>A, XM_047435846.1:c.332C>T, NM_001394766.1:c.320C>A, NM_001394766.1:c.320C>T, XM_047435855.1:c.320C>A, XM_047435855.1:c.320C>T, NM_001394771.1:c.308C>A, NM_001394771.1:c.308C>T, NM_001394772.1:c.308C>A, NM_001394772.1:c.308C>T, NM_001394774.1:c.368C>A, NM_001394774.1:c.368C>T, NM_001394775.1:c.356C>A, NM_001394775.1:c.356C>T, NM_001394777.1:c.368C>A, NM_001394777.1:c.368C>T, NP_004118.3:p.Pro123His, NP_004118.3:p.Pro123Leu, XP_005256417.1:p.Pro119His, XP_005256417.1:p.Pro119Leu, NP_997657.1:p.Pro159His, NP_997657.1:p.Pro159Leu, NP_001308018.1:p.Pro191His, NP_001308018.1:p.Pro191Leu, NP_001308019.1:p.Pro187His, NP_001308019.1:p.Pro187Leu, NP_001308020.1:p.Pro187His, NP_001308020.1:p.Pro187Leu, XP_016880013.1:p.Pro107His, XP_016880013.1:p.Pro107Leu, XP_016880020.1:p.Pro103His, XP_016880020.1:p.Pro103Leu, XP_005256416.1:p.Pro123His, XP_005256416.1:p.Pro123Leu, NP_001308022.1:p.Pro103His, NP_001308022.1:p.Pro103Leu, XP_016880016.1:p.Pro119His, XP_016880016.1:p.Pro119Leu, NP_001317470.1:p.Pro123His, NP_001317470.1:p.Pro123Leu, NP_001308021.1:p.Pro119His, NP_001308021.1:p.Pro119Leu, NP_001317468.1:p.Pro119His, NP_001317468.1:p.Pro119Leu, XP_005256407.1:p.Pro191His, XP_005256407.1:p.Pro191Leu, XP_005256410.1:p.Pro187His, XP_005256410.1:p.Pro187Leu, XP_016880014.1:p.Pro187His, XP_016880014.1:p.Pro187Leu, XP_047291789.1:p.Pro190His, XP_047291789.1:p.Pro190Leu, XP_047291787.1:p.Pro191His, XP_047291787.1:p.Pro191Leu, XP_047291797.1:p.Pro163His, XP_047291797.1:p.Pro163Leu, XP_047291791.1:p.Pro186His, XP_047291791.1:p.Pro186Leu, XP_047291801.1:p.Pro159His, XP_047291801.1:p.Pro159Leu, XP_047291794.1:p.Pro190His, XP_047291794.1:p.Pro190Leu, NP_001381688.1:p.Pro191His, NP_001381688.1:p.Pro191Leu, XP_047291796.1:p.Pro190His, XP_047291796.1:p.Pro190Leu, NP_001381689.1:p.Pro163His, NP_001381689.1:p.Pro163Leu, XP_047291798.1:p.Pro186His, XP_047291798.1:p.Pro186Leu, XP_047291799.1:p.Pro186His, XP_047291799.1:p.Pro186Leu, XP_047291803.1:p.Pro159His, XP_047291803.1:p.Pro159Leu, NP_001381690.1:p.Pro159His, NP_001381690.1:p.Pro159Leu, XP_047291805.1:p.Pro107His, XP_047291805.1:p.Pro107Leu, XP_047291785.1:p.Pro107His, XP_047291785.1:p.Pro107Leu, XP_047291809.1:p.Pro103His, XP_047291809.1:p.Pro103Leu, XP_047291786.1:p.Pro103His, XP_047291786.1:p.Pro103Leu, XP_047291788.1:p.Pro103His, XP_047291788.1:p.Pro103Leu, NP_001381692.1:p.Pro111His, NP_001381692.1:p.Pro111Leu, NP_001381694.1:p.Pro107His, NP_001381694.1:p.Pro107Leu, NP_001381696.1:p.Pro107His, NP_001381696.1:p.Pro107Leu, NP_001381697.1:p.Pro107His, NP_001381697.1:p.Pro107Leu, NP_001381698.1:p.Pro103His, NP_001381698.1:p.Pro103Leu, XP_047291792.1:p.Pro107His, XP_047291792.1:p.Pro107Leu, XP_047291804.1:p.Pro123His, XP_047291804.1:p.Pro123Leu, XP_047291793.1:p.Pro107His, XP_047291793.1:p.Pro107Leu, XP_047291806.1:p.Pro107His, XP_047291806.1:p.Pro107Leu, NP_001381702.1:p.Pro103His, NP_001381702.1:p.Pro103Leu, XP_047291807.1:p.Pro107His, XP_047291807.1:p.Pro107Leu, NP_001381699.1:p.Pro103His, NP_001381699.1:p.Pro103Leu, XP_047291795.1:p.Pro103His, XP_047291795.1:p.Pro103Leu, XP_047291810.1:p.Pro103His, XP_047291810.1:p.Pro103Leu, NP_001381705.1:p.Pro111His, NP_001381705.1:p.Pro111Leu, NP_001381691.1:p.Pro111His, NP_001381691.1:p.Pro111Leu, NP_001381693.1:p.Pro111His, NP_001381693.1:p.Pro111Leu, XP_047291802.1:p.Pro111His, XP_047291802.1:p.Pro111Leu, NP_001381695.1:p.Pro107His, NP_001381695.1:p.Pro107Leu, XP_047291811.1:p.Pro107His, XP_047291811.1:p.Pro107Leu, NP_001381700.1:p.Pro103His, NP_001381700.1:p.Pro103Leu, NP_001381701.1:p.Pro103His, NP_001381701.1:p.Pro103Leu, NP_001381703.1:p.Pro123His, NP_001381703.1:p.Pro123Leu, NP_001381704.1:p.Pro119His, NP_001381704.1:p.Pro119Leu, NP_001381706.1:p.Pro123His, NP_001381706.1:p.Pro123Leu

          5.

          rs1484977999 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:82056905 (GRCh38)
            17:80014781 (GRCh37)
            Canonical SPDI:
            NC_000017.11:82056904:G:A
            Gene:
            GPS1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.82056905G>A, NC_000017.10:g.80014781G>A, NM_004127.7:c.1332G>A, NM_004127.6:c.1332G>A, NM_004127.5:c.1332G>A, NM_004127.4:c.1332G>A, XM_005256360.5:c.1320G>A, XM_005256360.4:c.1320G>A, XM_005256360.3:c.1320G>A, XM_005256360.2:c.1320G>A, XM_005256360.1:c.1320G>A, NM_212492.4:c.1440G>A, NM_212492.3:c.1440G>A, NM_212492.2:c.1440G>A, NM_212492.1:c.1440G>A, NM_001321089.3:c.1536G>A, NM_001321089.2:c.1536G>A, NM_001321089.1:c.1536G>A, NM_001321090.3:c.1524G>A, NM_001321090.2:c.1524G>A, NM_001321090.1:c.1524G>A, NM_001321091.3:c.1521G>A, NM_001321091.2:c.1521G>A, NM_001321091.1:c.1521G>A, XM_017024524.3:c.1281G>A, XM_017024524.2:c.1281G>A, XM_017024524.1:c.1281G>A, XM_017024531.3:c.1269G>A, XM_017024531.2:c.1269G>A, XM_017024531.1:c.1269G>A, XM_005256359.3:c.1332G>A, XM_005256359.2:c.1332G>A, XM_005256359.1:c.1332G>A, NM_001321093.3:c.1272G>A, NM_001321093.2:c.1272G>A, NM_001321093.1:c.1272G>A, XM_017024527.3:c.1317G>A, XM_017024527.2:c.1317G>A, XM_017024527.1:c.1317G>A, NM_001330541.3:c.1329G>A, NM_001330541.2:c.1329G>A, NM_001330541.1:c.1329G>A, NM_001321092.3:c.1320G>A, NM_001321092.2:c.1320G>A, NM_001321092.1:c.1320G>A, NM_001330539.3:c.1317G>A, NM_001330539.2:c.1317G>A, NM_001330539.1:c.1317G>A, XM_005256350.2:c.1536G>A, XM_005256350.1:c.1536G>A, XM_005256353.2:c.1524G>A, XM_005256353.1:c.1524G>A, XM_017024525.2:c.1521G>A, XM_017024525.1:c.1521G>A, XM_047435833.1:c.1533G>A, XM_047435831.1:c.1533G>A, XM_047435841.1:c.1452G>A, XM_047435835.1:c.1521G>A, XM_047435845.1:c.1440G>A, XM_047435838.1:c.1533G>A, NM_001394759.1:c.1533G>A, XM_047435840.1:c.1530G>A, NM_001394760.1:c.1452G>A, XM_047435842.1:c.1521G>A, XM_047435843.1:c.1518G>A, XM_047435847.1:c.1440G>A, NM_001394761.1:c.1437G>A, XM_047435849.1:c.1284G>A, XM_047435829.1:c.1284G>A, XM_047435853.1:c.1272G>A, XM_047435830.1:c.1272G>A, XM_047435832.1:c.1269G>A, NM_001394763.1:c.1296G>A, NM_001394765.1:c.1284G>A, NM_001394767.1:c.1284G>A, NM_001394768.1:c.1281G>A, NM_001394769.1:c.1272G>A, XM_047435836.1:c.1284G>A, XM_047435848.1:c.1329G>A, XM_047435837.1:c.1281G>A, XM_047435850.1:c.1284G>A, NM_001394773.1:c.1269G>A, XM_047435851.1:c.1281G>A, NM_001394770.1:c.1272G>A, XM_047435839.1:c.1269G>A, XM_047435854.1:c.1272G>A, NM_001394776.1:c.1215G>A, NM_001394762.1:c.1296G>A, NM_001394764.1:c.1293G>A, XM_047435846.1:c.1296G>A, NM_001394766.1:c.1284G>A, XM_047435855.1:c.1281G>A, NM_001394771.1:c.1272G>A, NM_001394772.1:c.1269G>A, NM_001394774.1:c.1251G>A, NM_001394775.1:c.1239G>A

            6.

            rs1483945313 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              17:82053357 (GRCh38)
              17:80011233 (GRCh37)
              Canonical SPDI:
              NC_000017.11:82053356:C:G
              Gene:
              GPS1 (Varview), RFNG (Varview)
              Functional Consequence:
              upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.82053357C>G, NC_000017.10:g.80011233C>G, NM_004127.7:c.117C>G, NM_004127.6:c.117C>G, NM_004127.5:c.117C>G, NM_004127.4:c.117C>G, XM_005256360.5:c.117C>G, XM_005256360.4:c.117C>G, XM_005256360.3:c.117C>G, XM_005256360.2:c.117C>G, XM_005256360.1:c.117C>G, NM_212492.4:c.237C>G, NM_212492.3:c.237C>G, NM_212492.2:c.237C>G, NM_212492.1:c.237C>G, NM_001321089.3:c.321C>G, NM_001321089.2:c.321C>G, NM_001321089.1:c.321C>G, NM_001321090.3:c.321C>G, NM_001321090.2:c.321C>G, NM_001321090.1:c.321C>G, NM_001321091.3:c.321C>G, NM_001321091.2:c.321C>G, NM_001321091.1:c.321C>G, XM_017024524.3:c.69C>G, XM_017024524.2:c.69C>G, XM_017024524.1:c.69C>G, XM_017024531.3:c.69C>G, XM_017024531.2:c.69C>G, XM_017024531.1:c.69C>G, XM_005256359.3:c.117C>G, XM_005256359.2:c.117C>G, XM_005256359.1:c.117C>G, NM_001321093.3:c.69C>G, NM_001321093.2:c.69C>G, NM_001321093.1:c.69C>G, XM_017024527.3:c.117C>G, XM_017024527.2:c.117C>G, XM_017024527.1:c.117C>G, NM_001330541.3:c.117C>G, NM_001330541.2:c.117C>G, NM_001330541.1:c.117C>G, NM_001321092.3:c.117C>G, NM_001321092.2:c.117C>G, NM_001321092.1:c.117C>G, NM_001330539.3:c.117C>G, NM_001330539.2:c.117C>G, NM_001330539.1:c.117C>G, XM_005256350.2:c.321C>G, XM_005256350.1:c.321C>G, XM_005256353.2:c.321C>G, XM_005256353.1:c.321C>G, XM_017024525.2:c.321C>G, XM_017024525.1:c.321C>G, XM_047435833.1:c.318C>G, XM_047435831.1:c.321C>G, XM_047435841.1:c.237C>G, XM_047435835.1:c.318C>G, XM_047435845.1:c.237C>G, XM_047435838.1:c.318C>G, NM_001394759.1:c.321C>G, XM_047435840.1:c.318C>G, NM_001394760.1:c.237C>G, XM_047435842.1:c.318C>G, XM_047435843.1:c.318C>G, XM_047435847.1:c.237C>G, NM_001394761.1:c.237C>G, XM_047435849.1:c.69C>G, XM_047435829.1:c.69C>G, XM_047435853.1:c.69C>G, XM_047435830.1:c.69C>G, XM_047435832.1:c.69C>G, NM_001394763.1:c.93C>G, NM_001394765.1:c.69C>G, NM_001394767.1:c.69C>G, NM_001394768.1:c.69C>G, NM_001394769.1:c.69C>G, XM_047435836.1:c.69C>G, XM_047435848.1:c.117C>G, XM_047435837.1:c.69C>G, XM_047435850.1:c.69C>G, NM_001394773.1:c.69C>G, XM_047435851.1:c.69C>G, NM_001394770.1:c.69C>G, XM_047435839.1:c.69C>G, XM_047435854.1:c.69C>G, NM_001394776.1:c.93C>G, NM_001394762.1:c.93C>G, NM_001394764.1:c.93C>G, XM_047435846.1:c.93C>G, NM_001394766.1:c.69C>G, XM_047435855.1:c.69C>G, NM_001394771.1:c.69C>G, NM_001394772.1:c.69C>G, NM_001394774.1:c.117C>G, NM_001394775.1:c.117C>G, NM_001394777.1:c.117C>G, NP_004118.3:p.Asn39Lys, XP_005256417.1:p.Asn39Lys, NP_997657.1:p.Asn79Lys, NP_001308018.1:p.Asn107Lys, NP_001308019.1:p.Asn107Lys, NP_001308020.1:p.Asn107Lys, XP_016880013.1:p.Asn23Lys, XP_016880020.1:p.Asn23Lys, XP_005256416.1:p.Asn39Lys, NP_001308022.1:p.Asn23Lys, XP_016880016.1:p.Asn39Lys, NP_001317470.1:p.Asn39Lys, NP_001308021.1:p.Asn39Lys, NP_001317468.1:p.Asn39Lys, XP_005256407.1:p.Asn107Lys, XP_005256410.1:p.Asn107Lys, XP_016880014.1:p.Asn107Lys, XP_047291789.1:p.Asn106Lys, XP_047291787.1:p.Asn107Lys, XP_047291797.1:p.Asn79Lys, XP_047291791.1:p.Asn106Lys, XP_047291801.1:p.Asn79Lys, XP_047291794.1:p.Asn106Lys, NP_001381688.1:p.Asn107Lys, XP_047291796.1:p.Asn106Lys, NP_001381689.1:p.Asn79Lys, XP_047291798.1:p.Asn106Lys, XP_047291799.1:p.Asn106Lys, XP_047291803.1:p.Asn79Lys, NP_001381690.1:p.Asn79Lys, XP_047291805.1:p.Asn23Lys, XP_047291785.1:p.Asn23Lys, XP_047291809.1:p.Asn23Lys, XP_047291786.1:p.Asn23Lys, XP_047291788.1:p.Asn23Lys, NP_001381692.1:p.Asn31Lys, NP_001381694.1:p.Asn23Lys, NP_001381696.1:p.Asn23Lys, NP_001381697.1:p.Asn23Lys, NP_001381698.1:p.Asn23Lys, XP_047291792.1:p.Asn23Lys, XP_047291804.1:p.Asn39Lys, XP_047291793.1:p.Asn23Lys, XP_047291806.1:p.Asn23Lys, NP_001381702.1:p.Asn23Lys, XP_047291807.1:p.Asn23Lys, NP_001381699.1:p.Asn23Lys, XP_047291795.1:p.Asn23Lys, XP_047291810.1:p.Asn23Lys, NP_001381705.1:p.Asn31Lys, NP_001381691.1:p.Asn31Lys, NP_001381693.1:p.Asn31Lys, XP_047291802.1:p.Asn31Lys, NP_001381695.1:p.Asn23Lys, XP_047291811.1:p.Asn23Lys, NP_001381700.1:p.Asn23Lys, NP_001381701.1:p.Asn23Lys, NP_001381703.1:p.Asn39Lys, NP_001381704.1:p.Asn39Lys, NP_001381706.1:p.Asn39Lys

              7.

              rs1479356167 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:82056029 (GRCh38)
                17:80013905 (GRCh37)
                Canonical SPDI:
                NC_000017.11:82056028:A:G
                Gene:
                GPS1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.82056029A>G, NC_000017.10:g.80013905A>G, NM_004127.7:c.875A>G, NM_004127.6:c.875A>G, NM_004127.5:c.875A>G, NM_004127.4:c.875A>G, XM_005256360.5:c.863A>G, XM_005256360.4:c.863A>G, XM_005256360.3:c.863A>G, XM_005256360.2:c.863A>G, XM_005256360.1:c.863A>G, NM_212492.4:c.983A>G, NM_212492.3:c.983A>G, NM_212492.2:c.983A>G, NM_212492.1:c.983A>G, NM_001321089.3:c.1079A>G, NM_001321089.2:c.1079A>G, NM_001321089.1:c.1079A>G, NM_001321090.3:c.1067A>G, NM_001321090.2:c.1067A>G, NM_001321090.1:c.1067A>G, NM_001321091.3:c.1064A>G, NM_001321091.2:c.1064A>G, NM_001321091.1:c.1064A>G, XM_017024524.3:c.824A>G, XM_017024524.2:c.824A>G, XM_017024524.1:c.824A>G, XM_017024531.3:c.812A>G, XM_017024531.2:c.812A>G, XM_017024531.1:c.812A>G, XM_005256359.3:c.875A>G, XM_005256359.2:c.875A>G, XM_005256359.1:c.875A>G, NM_001321093.3:c.815A>G, NM_001321093.2:c.815A>G, NM_001321093.1:c.815A>G, XM_017024527.3:c.860A>G, XM_017024527.2:c.860A>G, XM_017024527.1:c.860A>G, NM_001330541.3:c.872A>G, NM_001330541.2:c.872A>G, NM_001330541.1:c.872A>G, NM_001321092.3:c.863A>G, NM_001321092.2:c.863A>G, NM_001321092.1:c.863A>G, NM_001330539.3:c.860A>G, NM_001330539.2:c.860A>G, NM_001330539.1:c.860A>G, XM_005256350.2:c.1079A>G, XM_005256350.1:c.1079A>G, XM_005256353.2:c.1067A>G, XM_005256353.1:c.1067A>G, XM_017024525.2:c.1064A>G, XM_017024525.1:c.1064A>G, XM_047435833.1:c.1076A>G, XM_047435831.1:c.1076A>G, XM_047435841.1:c.995A>G, XM_047435835.1:c.1064A>G, XM_047435845.1:c.983A>G, XM_047435838.1:c.1076A>G, NM_001394759.1:c.1076A>G, XM_047435840.1:c.1073A>G, NM_001394760.1:c.995A>G, XM_047435842.1:c.1064A>G, XM_047435843.1:c.1061A>G, XM_047435847.1:c.983A>G, NM_001394761.1:c.980A>G, XM_047435849.1:c.827A>G, XM_047435829.1:c.827A>G, XM_047435853.1:c.815A>G, XM_047435830.1:c.815A>G, XM_047435832.1:c.812A>G, NM_001394763.1:c.839A>G, NM_001394765.1:c.827A>G, NM_001394767.1:c.827A>G, NM_001394768.1:c.824A>G, NM_001394769.1:c.815A>G, XM_047435836.1:c.827A>G, XM_047435848.1:c.872A>G, XM_047435837.1:c.824A>G, XM_047435850.1:c.827A>G, NM_001394773.1:c.812A>G, XM_047435851.1:c.824A>G, NM_001394770.1:c.815A>G, XM_047435839.1:c.812A>G, XM_047435854.1:c.815A>G, NM_001394776.1:c.839A>G, NM_001394762.1:c.839A>G, NM_001394764.1:c.836A>G, XM_047435846.1:c.839A>G, NM_001394766.1:c.827A>G, XM_047435855.1:c.824A>G, NM_001394771.1:c.815A>G, NM_001394772.1:c.812A>G, NM_001394774.1:c.875A>G, NM_001394775.1:c.863A>G, NM_001394777.1:c.875A>G, NP_004118.3:p.Tyr292Cys, XP_005256417.1:p.Tyr288Cys, NP_997657.1:p.Tyr328Cys, NP_001308018.1:p.Tyr360Cys, NP_001308019.1:p.Tyr356Cys, NP_001308020.1:p.Tyr355Cys, XP_016880013.1:p.Tyr275Cys, XP_016880020.1:p.Tyr271Cys, XP_005256416.1:p.Tyr292Cys, NP_001308022.1:p.Tyr272Cys, XP_016880016.1:p.Tyr287Cys, NP_001317470.1:p.Tyr291Cys, NP_001308021.1:p.Tyr288Cys, NP_001317468.1:p.Tyr287Cys, XP_005256407.1:p.Tyr360Cys, XP_005256410.1:p.Tyr356Cys, XP_016880014.1:p.Tyr355Cys, XP_047291789.1:p.Tyr359Cys, XP_047291787.1:p.Tyr359Cys, XP_047291797.1:p.Tyr332Cys, XP_047291791.1:p.Tyr355Cys, XP_047291801.1:p.Tyr328Cys, XP_047291794.1:p.Tyr359Cys, NP_001381688.1:p.Tyr359Cys, XP_047291796.1:p.Tyr358Cys, NP_001381689.1:p.Tyr332Cys, XP_047291798.1:p.Tyr355Cys, XP_047291799.1:p.Tyr354Cys, XP_047291803.1:p.Tyr328Cys, NP_001381690.1:p.Tyr327Cys, XP_047291805.1:p.Tyr276Cys, XP_047291785.1:p.Tyr276Cys, XP_047291809.1:p.Tyr272Cys, XP_047291786.1:p.Tyr272Cys, XP_047291788.1:p.Tyr271Cys, NP_001381692.1:p.Tyr280Cys, NP_001381694.1:p.Tyr276Cys, NP_001381696.1:p.Tyr276Cys, NP_001381697.1:p.Tyr275Cys, NP_001381698.1:p.Tyr272Cys, XP_047291792.1:p.Tyr276Cys, XP_047291804.1:p.Tyr291Cys, XP_047291793.1:p.Tyr275Cys, XP_047291806.1:p.Tyr276Cys, NP_001381702.1:p.Tyr271Cys, XP_047291807.1:p.Tyr275Cys, NP_001381699.1:p.Tyr272Cys, XP_047291795.1:p.Tyr271Cys, XP_047291810.1:p.Tyr272Cys, NP_001381705.1:p.Tyr280Cys, NP_001381691.1:p.Tyr280Cys, NP_001381693.1:p.Tyr279Cys, XP_047291802.1:p.Tyr280Cys, NP_001381695.1:p.Tyr276Cys, XP_047291811.1:p.Tyr275Cys, NP_001381700.1:p.Tyr272Cys, NP_001381701.1:p.Tyr271Cys, NP_001381703.1:p.Tyr292Cys, NP_001381704.1:p.Tyr288Cys, NP_001381706.1:p.Tyr292Cys

                8.

                rs1478081676 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:82057124 (GRCh38)
                  17:80015000 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:82057123:G:C
                  Gene:
                  GPS1 (Varview), DUS1L (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
                  HGVS:
                  NC_000017.11:g.82057124G>C, NC_000017.10:g.80015000G>C, NM_004127.7:c.1473G>C, NM_004127.6:c.1473G>C, NM_004127.5:c.1473G>C, NM_004127.4:c.1473G>C, XM_005256360.5:c.1539G>C, XM_005256360.4:c.1539G>C, XM_005256360.3:c.1539G>C, XM_005256360.2:c.1539G>C, XM_005256360.1:c.1539G>C, NM_212492.4:c.1581G>C, NM_212492.3:c.1581G>C, NM_212492.2:c.1581G>C, NM_212492.1:c.1581G>C, NM_001321089.3:c.1677G>C, NM_001321089.2:c.1677G>C, NM_001321089.1:c.1677G>C, NM_001321090.3:c.1665G>C, NM_001321090.2:c.1665G>C, NM_001321090.1:c.1665G>C, NM_001321091.3:c.1662G>C, NM_001321091.2:c.1662G>C, NM_001321091.1:c.1662G>C, XM_017024524.3:c.1500G>C, XM_017024524.2:c.1500G>C, XM_017024524.1:c.1500G>C, XM_017024531.3:c.1488G>C, XM_017024531.2:c.1488G>C, XM_017024531.1:c.1488G>C, XM_005256359.3:c.1551G>C, XM_005256359.2:c.1551G>C, XM_005256359.1:c.1551G>C, NM_001321093.3:c.1413G>C, NM_001321093.2:c.1413G>C, NM_001321093.1:c.1413G>C, XM_017024527.3:c.1536G>C, XM_017024527.2:c.1536G>C, XM_017024527.1:c.1536G>C, NM_001330541.3:c.1470G>C, NM_001330541.2:c.1470G>C, NM_001330541.1:c.1470G>C, NM_001321092.3:c.1461G>C, NM_001321092.2:c.1461G>C, NM_001321092.1:c.1461G>C, NM_001330539.3:c.1458G>C, NM_001330539.2:c.1458G>C, NM_001330539.1:c.1458G>C, XM_005256350.2:c.1755G>C, XM_005256350.1:c.1755G>C, XM_005256353.2:c.1743G>C, XM_005256353.1:c.1743G>C, XM_017024525.2:c.1740G>C, XM_017024525.1:c.1740G>C, XM_047435833.1:c.1752G>C, XM_047435831.1:c.1752G>C, XM_047435841.1:c.1671G>C, XM_047435835.1:c.1740G>C, XM_047435845.1:c.1659G>C, XM_047435838.1:c.1674G>C, NM_001394759.1:c.1674G>C, XM_047435840.1:c.1671G>C, NM_001394760.1:c.1593G>C, XM_047435842.1:c.1662G>C, XM_047435843.1:c.1659G>C, XM_047435847.1:c.1581G>C, NM_001394761.1:c.1578G>C, XM_047435849.1:c.1503G>C, XM_047435829.1:c.1503G>C, XM_047435853.1:c.1491G>C, XM_047435830.1:c.1491G>C, XM_047435832.1:c.1488G>C, NM_001394763.1:c.1437G>C, NM_001394765.1:c.1425G>C, NM_001394767.1:c.1425G>C, NM_001394768.1:c.1422G>C, NM_001394769.1:c.1413G>C, XM_047435836.1:c.1425G>C, XM_047435848.1:c.1548G>C, XM_047435837.1:c.1422G>C, XM_047435850.1:c.1503G>C, NM_001394773.1:c.1410G>C, XM_047435851.1:c.1500G>C, NM_001394770.1:c.1413G>C, XM_047435839.1:c.1410G>C, XM_047435854.1:c.1491G>C, NM_001394776.1:c.1356G>C, NM_001394762.1:c.1437G>C, NM_001394764.1:c.1434G>C, XM_047435846.1:c.1437G>C, NM_001394766.1:c.1425G>C, XM_047435855.1:c.1422G>C, NM_001394771.1:c.1413G>C, NM_001394772.1:c.1410G>C, NM_001394774.1:c.1392G>C, NM_001394775.1:c.1380G>C, NM_001394777.1:c.1338G>C, NP_004118.3:p.Met491Ile, XP_005256417.1:p.Met513Ile, NP_997657.1:p.Met527Ile, NP_001308018.1:p.Met559Ile, NP_001308019.1:p.Met555Ile, NP_001308020.1:p.Met554Ile, XP_016880013.1:p.Met500Ile, XP_016880020.1:p.Met496Ile, XP_005256416.1:p.Met517Ile, NP_001308022.1:p.Met471Ile, XP_016880016.1:p.Met512Ile, NP_001317470.1:p.Met490Ile, NP_001308021.1:p.Met487Ile, NP_001317468.1:p.Met486Ile, XP_005256407.1:p.Met585Ile, XP_005256410.1:p.Met581Ile, XP_016880014.1:p.Met580Ile, XP_047291789.1:p.Met584Ile, XP_047291787.1:p.Met584Ile, XP_047291797.1:p.Met557Ile, XP_047291791.1:p.Met580Ile, XP_047291801.1:p.Met553Ile, XP_047291794.1:p.Met558Ile, NP_001381688.1:p.Met558Ile, XP_047291796.1:p.Met557Ile, NP_001381689.1:p.Met531Ile, XP_047291798.1:p.Met554Ile, XP_047291799.1:p.Met553Ile, XP_047291803.1:p.Met527Ile, NP_001381690.1:p.Met526Ile, XP_047291805.1:p.Met501Ile, XP_047291785.1:p.Met501Ile, XP_047291809.1:p.Met497Ile, XP_047291786.1:p.Met497Ile, XP_047291788.1:p.Met496Ile, NP_001381692.1:p.Met479Ile, NP_001381694.1:p.Met475Ile, NP_001381696.1:p.Met475Ile, NP_001381697.1:p.Met474Ile, NP_001381698.1:p.Met471Ile, XP_047291792.1:p.Met475Ile, XP_047291804.1:p.Met516Ile, XP_047291793.1:p.Met474Ile, XP_047291806.1:p.Met501Ile, NP_001381702.1:p.Met470Ile, XP_047291807.1:p.Met500Ile, NP_001381699.1:p.Met471Ile, XP_047291795.1:p.Met470Ile, XP_047291810.1:p.Met497Ile, NP_001381705.1:p.Met452Ile, NP_001381691.1:p.Met479Ile, NP_001381693.1:p.Met478Ile, XP_047291802.1:p.Met479Ile, NP_001381695.1:p.Met475Ile, XP_047291811.1:p.Met474Ile, NP_001381700.1:p.Met471Ile, NP_001381701.1:p.Met470Ile, NP_001381703.1:p.Met464Ile, NP_001381704.1:p.Met460Ile, NP_001381706.1:p.Met446Ile

                  9.

                  rs1475179776 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:82056475 (GRCh38)
                    17:80014351 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:82056474:C:T
                    Gene:
                    GPS1 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000017.11:g.82056475C>T, NC_000017.10:g.80014351C>T, NM_004127.7:c.1053C>T, NM_004127.6:c.1053C>T, NM_004127.5:c.1053C>T, NM_004127.4:c.1053C>T, XM_005256360.5:c.1041C>T, XM_005256360.4:c.1041C>T, XM_005256360.3:c.1041C>T, XM_005256360.2:c.1041C>T, XM_005256360.1:c.1041C>T, NM_212492.4:c.1161C>T, NM_212492.3:c.1161C>T, NM_212492.2:c.1161C>T, NM_212492.1:c.1161C>T, NM_001321089.3:c.1257C>T, NM_001321089.2:c.1257C>T, NM_001321089.1:c.1257C>T, NM_001321090.3:c.1245C>T, NM_001321090.2:c.1245C>T, NM_001321090.1:c.1245C>T, NM_001321091.3:c.1242C>T, NM_001321091.2:c.1242C>T, NM_001321091.1:c.1242C>T, XM_017024524.3:c.1002C>T, XM_017024524.2:c.1002C>T, XM_017024524.1:c.1002C>T, XM_017024531.3:c.990C>T, XM_017024531.2:c.990C>T, XM_017024531.1:c.990C>T, XM_005256359.3:c.1053C>T, XM_005256359.2:c.1053C>T, XM_005256359.1:c.1053C>T, NM_001321093.3:c.993C>T, NM_001321093.2:c.993C>T, NM_001321093.1:c.993C>T, XM_017024527.3:c.1038C>T, XM_017024527.2:c.1038C>T, XM_017024527.1:c.1038C>T, NM_001330541.3:c.1050C>T, NM_001330541.2:c.1050C>T, NM_001330541.1:c.1050C>T, NM_001321092.3:c.1041C>T, NM_001321092.2:c.1041C>T, NM_001321092.1:c.1041C>T, NM_001330539.3:c.1038C>T, NM_001330539.2:c.1038C>T, NM_001330539.1:c.1038C>T, XM_005256350.2:c.1257C>T, XM_005256350.1:c.1257C>T, XM_005256353.2:c.1245C>T, XM_005256353.1:c.1245C>T, XM_017024525.2:c.1242C>T, XM_017024525.1:c.1242C>T, XM_047435833.1:c.1254C>T, XM_047435831.1:c.1254C>T, XM_047435841.1:c.1173C>T, XM_047435835.1:c.1242C>T, XM_047435845.1:c.1161C>T, XM_047435838.1:c.1254C>T, NM_001394759.1:c.1254C>T, XM_047435840.1:c.1251C>T, NM_001394760.1:c.1173C>T, XM_047435842.1:c.1242C>T, XM_047435843.1:c.1239C>T, XM_047435847.1:c.1161C>T, NM_001394761.1:c.1158C>T, XM_047435849.1:c.1005C>T, XM_047435829.1:c.1005C>T, XM_047435853.1:c.993C>T, XM_047435830.1:c.993C>T, XM_047435832.1:c.990C>T, NM_001394763.1:c.1017C>T, NM_001394765.1:c.1005C>T, NM_001394767.1:c.1005C>T, NM_001394768.1:c.1002C>T, NM_001394769.1:c.993C>T, XM_047435836.1:c.1005C>T, XM_047435848.1:c.1050C>T, XM_047435837.1:c.1002C>T, XM_047435850.1:c.1005C>T, NM_001394773.1:c.990C>T, XM_047435851.1:c.1002C>T, NM_001394770.1:c.993C>T, XM_047435839.1:c.990C>T, XM_047435854.1:c.993C>T, NM_001394762.1:c.1017C>T, NM_001394764.1:c.1014C>T, XM_047435846.1:c.1017C>T, NM_001394766.1:c.1005C>T, XM_047435855.1:c.1002C>T, NM_001394771.1:c.993C>T, NM_001394772.1:c.990C>T, NM_001394777.1:c.1053C>T

                    10.

                    rs1475050250 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      17:82056984 (GRCh38)
                      17:80014861 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:82056984::G
                      Gene:
                      GPS1 (Varview)
                      Functional Consequence:
                      frameshift_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000017.11:g.82056984_82056985insG, NC_000017.10:g.80014860_80014861insG, XM_005256360.5:c.1399_1400insG, XM_005256360.4:c.1399_1400insG, XM_005256360.3:c.1399_1400insG, XM_005256360.2:c.1399_1400insG, XM_005256360.1:c.1399_1400insG, XM_017024524.3:c.1360_1361insG, XM_017024524.2:c.1360_1361insG, XM_017024524.1:c.1360_1361insG, XM_017024531.3:c.1348_1349insG, XM_017024531.2:c.1348_1349insG, XM_017024531.1:c.1348_1349insG, XM_005256359.3:c.1411_1412insG, XM_005256359.2:c.1411_1412insG, XM_005256359.1:c.1411_1412insG, XM_017024527.3:c.1396_1397insG, XM_017024527.2:c.1396_1397insG, XM_017024527.1:c.1396_1397insG, XM_005256350.2:c.1615_1616insG, XM_005256350.1:c.1615_1616insG, XM_005256353.2:c.1603_1604insG, XM_005256353.1:c.1603_1604insG, XM_017024525.2:c.1600_1601insG, XM_017024525.1:c.1600_1601insG, XM_047435833.1:c.1612_1613insG, XM_047435831.1:c.1612_1613insG, XM_047435841.1:c.1531_1532insG, XM_047435835.1:c.1600_1601insG, XM_047435845.1:c.1519_1520insG, XM_047435849.1:c.1363_1364insG, XM_047435829.1:c.1363_1364insG, XM_047435853.1:c.1351_1352insG, XM_047435830.1:c.1351_1352insG, XM_047435832.1:c.1348_1349insG, XM_047435848.1:c.1408_1409insG, XM_047435850.1:c.1363_1364insG, XM_047435851.1:c.1360_1361insG, XM_047435854.1:c.1351_1352insG, XP_005256417.1:p.Leu467fs, XP_016880013.1:p.Leu454fs, XP_016880020.1:p.Leu450fs, XP_005256416.1:p.Leu471fs, XP_016880016.1:p.Leu466fs, XP_005256407.1:p.Leu539fs, XP_005256410.1:p.Leu535fs, XP_016880014.1:p.Leu534fs, XP_047291789.1:p.Leu538fs, XP_047291787.1:p.Leu538fs, XP_047291797.1:p.Leu511fs, XP_047291791.1:p.Leu534fs, XP_047291801.1:p.Leu507fs, XP_047291805.1:p.Leu455fs, XP_047291785.1:p.Leu455fs, XP_047291809.1:p.Leu451fs, XP_047291786.1:p.Leu451fs, XP_047291788.1:p.Leu450fs, XP_047291804.1:p.Leu470fs, XP_047291806.1:p.Leu455fs, XP_047291807.1:p.Leu454fs, XP_047291810.1:p.Leu451fs

                      11.

                      rs1474840572 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:82056504 (GRCh38)
                        17:80014380 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:82056503:A:G
                        Gene:
                        GPS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000111/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.82056504A>G, NC_000017.10:g.80014380A>G, NM_004127.7:c.1082A>G, NM_004127.6:c.1082A>G, NM_004127.5:c.1082A>G, NM_004127.4:c.1082A>G, XM_005256360.5:c.1070A>G, XM_005256360.4:c.1070A>G, XM_005256360.3:c.1070A>G, XM_005256360.2:c.1070A>G, XM_005256360.1:c.1070A>G, NM_212492.4:c.1190A>G, NM_212492.3:c.1190A>G, NM_212492.2:c.1190A>G, NM_212492.1:c.1190A>G, NM_001321089.3:c.1286A>G, NM_001321089.2:c.1286A>G, NM_001321089.1:c.1286A>G, NM_001321090.3:c.1274A>G, NM_001321090.2:c.1274A>G, NM_001321090.1:c.1274A>G, NM_001321091.3:c.1271A>G, NM_001321091.2:c.1271A>G, NM_001321091.1:c.1271A>G, XM_017024524.3:c.1031A>G, XM_017024524.2:c.1031A>G, XM_017024524.1:c.1031A>G, XM_017024531.3:c.1019A>G, XM_017024531.2:c.1019A>G, XM_017024531.1:c.1019A>G, XM_005256359.3:c.1082A>G, XM_005256359.2:c.1082A>G, XM_005256359.1:c.1082A>G, NM_001321093.3:c.1022A>G, NM_001321093.2:c.1022A>G, NM_001321093.1:c.1022A>G, XM_017024527.3:c.1067A>G, XM_017024527.2:c.1067A>G, XM_017024527.1:c.1067A>G, NM_001330541.3:c.1079A>G, NM_001330541.2:c.1079A>G, NM_001330541.1:c.1079A>G, NM_001321092.3:c.1070A>G, NM_001321092.2:c.1070A>G, NM_001321092.1:c.1070A>G, NM_001330539.3:c.1067A>G, NM_001330539.2:c.1067A>G, NM_001330539.1:c.1067A>G, XM_005256350.2:c.1286A>G, XM_005256350.1:c.1286A>G, XM_005256353.2:c.1274A>G, XM_005256353.1:c.1274A>G, XM_017024525.2:c.1271A>G, XM_017024525.1:c.1271A>G, XM_047435833.1:c.1283A>G, XM_047435831.1:c.1283A>G, XM_047435841.1:c.1202A>G, XM_047435835.1:c.1271A>G, XM_047435845.1:c.1190A>G, XM_047435838.1:c.1283A>G, NM_001394759.1:c.1283A>G, XM_047435840.1:c.1280A>G, NM_001394760.1:c.1202A>G, XM_047435842.1:c.1271A>G, XM_047435843.1:c.1268A>G, XM_047435847.1:c.1190A>G, NM_001394761.1:c.1187A>G, XM_047435849.1:c.1034A>G, XM_047435829.1:c.1034A>G, XM_047435853.1:c.1022A>G, XM_047435830.1:c.1022A>G, XM_047435832.1:c.1019A>G, NM_001394763.1:c.1046A>G, NM_001394765.1:c.1034A>G, NM_001394767.1:c.1034A>G, NM_001394768.1:c.1031A>G, NM_001394769.1:c.1022A>G, XM_047435836.1:c.1034A>G, XM_047435848.1:c.1079A>G, XM_047435837.1:c.1031A>G, XM_047435850.1:c.1034A>G, NM_001394773.1:c.1019A>G, XM_047435851.1:c.1031A>G, NM_001394770.1:c.1022A>G, XM_047435839.1:c.1019A>G, XM_047435854.1:c.1022A>G, NM_001394762.1:c.1046A>G, NM_001394764.1:c.1043A>G, XM_047435846.1:c.1046A>G, NM_001394766.1:c.1034A>G, XM_047435855.1:c.1031A>G, NM_001394771.1:c.1022A>G, NM_001394772.1:c.1019A>G, NM_001394777.1:c.1082A>G, NP_004118.3:p.His361Arg, XP_005256417.1:p.His357Arg, NP_997657.1:p.His397Arg, NP_001308018.1:p.His429Arg, NP_001308019.1:p.His425Arg, NP_001308020.1:p.His424Arg, XP_016880013.1:p.His344Arg, XP_016880020.1:p.His340Arg, XP_005256416.1:p.His361Arg, NP_001308022.1:p.His341Arg, XP_016880016.1:p.His356Arg, NP_001317470.1:p.His360Arg, NP_001308021.1:p.His357Arg, NP_001317468.1:p.His356Arg, XP_005256407.1:p.His429Arg, XP_005256410.1:p.His425Arg, XP_016880014.1:p.His424Arg, XP_047291789.1:p.His428Arg, XP_047291787.1:p.His428Arg, XP_047291797.1:p.His401Arg, XP_047291791.1:p.His424Arg, XP_047291801.1:p.His397Arg, XP_047291794.1:p.His428Arg, NP_001381688.1:p.His428Arg, XP_047291796.1:p.His427Arg, NP_001381689.1:p.His401Arg, XP_047291798.1:p.His424Arg, XP_047291799.1:p.His423Arg, XP_047291803.1:p.His397Arg, NP_001381690.1:p.His396Arg, XP_047291805.1:p.His345Arg, XP_047291785.1:p.His345Arg, XP_047291809.1:p.His341Arg, XP_047291786.1:p.His341Arg, XP_047291788.1:p.His340Arg, NP_001381692.1:p.His349Arg, NP_001381694.1:p.His345Arg, NP_001381696.1:p.His345Arg, NP_001381697.1:p.His344Arg, NP_001381698.1:p.His341Arg, XP_047291792.1:p.His345Arg, XP_047291804.1:p.His360Arg, XP_047291793.1:p.His344Arg, XP_047291806.1:p.His345Arg, NP_001381702.1:p.His340Arg, XP_047291807.1:p.His344Arg, NP_001381699.1:p.His341Arg, XP_047291795.1:p.His340Arg, XP_047291810.1:p.His341Arg, NP_001381691.1:p.His349Arg, NP_001381693.1:p.His348Arg, XP_047291802.1:p.His349Arg, NP_001381695.1:p.His345Arg, XP_047291811.1:p.His344Arg, NP_001381700.1:p.His341Arg, NP_001381701.1:p.His340Arg, NP_001381706.1:p.His361Arg

                        12.

                        rs1473638620 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          17:82053935 (GRCh38)
                          17:80011811 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:82053934:A:C
                          Gene:
                          GPS1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.82053935A>C, NC_000017.10:g.80011811A>C, NM_004127.7:c.194A>C, NM_004127.6:c.194A>C, NM_004127.5:c.194A>C, NM_004127.4:c.194A>C, XM_005256360.5:c.194A>C, XM_005256360.4:c.194A>C, XM_005256360.3:c.194A>C, XM_005256360.2:c.194A>C, XM_005256360.1:c.194A>C, NM_212492.4:c.314A>C, NM_212492.3:c.314A>C, NM_212492.2:c.314A>C, NM_212492.1:c.314A>C, NM_001321089.3:c.398A>C, NM_001321089.2:c.398A>C, NM_001321089.1:c.398A>C, NM_001321090.3:c.398A>C, NM_001321090.2:c.398A>C, NM_001321090.1:c.398A>C, NM_001321091.3:c.398A>C, NM_001321091.2:c.398A>C, NM_001321091.1:c.398A>C, XM_017024524.3:c.146A>C, XM_017024524.2:c.146A>C, XM_017024524.1:c.146A>C, XM_017024531.3:c.146A>C, XM_017024531.2:c.146A>C, XM_017024531.1:c.146A>C, XM_005256359.3:c.194A>C, XM_005256359.2:c.194A>C, XM_005256359.1:c.194A>C, NM_001321093.3:c.146A>C, NM_001321093.2:c.146A>C, NM_001321093.1:c.146A>C, XM_017024527.3:c.194A>C, XM_017024527.2:c.194A>C, XM_017024527.1:c.194A>C, NM_001330541.3:c.194A>C, NM_001330541.2:c.194A>C, NM_001330541.1:c.194A>C, NM_001321092.3:c.194A>C, NM_001321092.2:c.194A>C, NM_001321092.1:c.194A>C, NM_001330539.3:c.194A>C, NM_001330539.2:c.194A>C, NM_001330539.1:c.194A>C, XM_005256350.2:c.398A>C, XM_005256350.1:c.398A>C, XM_005256353.2:c.398A>C, XM_005256353.1:c.398A>C, XM_017024525.2:c.398A>C, XM_017024525.1:c.398A>C, XM_047435833.1:c.395A>C, XM_047435831.1:c.398A>C, XM_047435841.1:c.314A>C, XM_047435835.1:c.395A>C, XM_047435845.1:c.314A>C, XM_047435838.1:c.395A>C, NM_001394759.1:c.398A>C, XM_047435840.1:c.395A>C, NM_001394760.1:c.314A>C, XM_047435842.1:c.395A>C, XM_047435843.1:c.395A>C, XM_047435847.1:c.314A>C, NM_001394761.1:c.314A>C, XM_047435849.1:c.146A>C, XM_047435829.1:c.146A>C, XM_047435853.1:c.146A>C, XM_047435830.1:c.146A>C, XM_047435832.1:c.146A>C, NM_001394763.1:c.170A>C, NM_001394765.1:c.146A>C, NM_001394767.1:c.146A>C, NM_001394768.1:c.146A>C, NM_001394769.1:c.146A>C, XM_047435836.1:c.146A>C, XM_047435848.1:c.194A>C, XM_047435837.1:c.146A>C, XM_047435850.1:c.146A>C, NM_001394773.1:c.146A>C, XM_047435851.1:c.146A>C, NM_001394770.1:c.146A>C, XM_047435839.1:c.146A>C, XM_047435854.1:c.146A>C, NM_001394776.1:c.170A>C, NM_001394762.1:c.170A>C, NM_001394764.1:c.170A>C, XM_047435846.1:c.170A>C, NM_001394766.1:c.146A>C, XM_047435855.1:c.146A>C, NM_001394771.1:c.146A>C, NM_001394772.1:c.146A>C, NM_001394774.1:c.194A>C, NM_001394775.1:c.194A>C, NM_001394777.1:c.194A>C, NP_004118.3:p.Asp65Ala, XP_005256417.1:p.Asp65Ala, NP_997657.1:p.Asp105Ala, NP_001308018.1:p.Asp133Ala, NP_001308019.1:p.Asp133Ala, NP_001308020.1:p.Asp133Ala, XP_016880013.1:p.Asp49Ala, XP_016880020.1:p.Asp49Ala, XP_005256416.1:p.Asp65Ala, NP_001308022.1:p.Asp49Ala, XP_016880016.1:p.Asp65Ala, NP_001317470.1:p.Asp65Ala, NP_001308021.1:p.Asp65Ala, NP_001317468.1:p.Asp65Ala, XP_005256407.1:p.Asp133Ala, XP_005256410.1:p.Asp133Ala, XP_016880014.1:p.Asp133Ala, XP_047291789.1:p.Asp132Ala, XP_047291787.1:p.Asp133Ala, XP_047291797.1:p.Asp105Ala, XP_047291791.1:p.Asp132Ala, XP_047291801.1:p.Asp105Ala, XP_047291794.1:p.Asp132Ala, NP_001381688.1:p.Asp133Ala, XP_047291796.1:p.Asp132Ala, NP_001381689.1:p.Asp105Ala, XP_047291798.1:p.Asp132Ala, XP_047291799.1:p.Asp132Ala, XP_047291803.1:p.Asp105Ala, NP_001381690.1:p.Asp105Ala, XP_047291805.1:p.Asp49Ala, XP_047291785.1:p.Asp49Ala, XP_047291809.1:p.Asp49Ala, XP_047291786.1:p.Asp49Ala, XP_047291788.1:p.Asp49Ala, NP_001381692.1:p.Asp57Ala, NP_001381694.1:p.Asp49Ala, NP_001381696.1:p.Asp49Ala, NP_001381697.1:p.Asp49Ala, NP_001381698.1:p.Asp49Ala, XP_047291792.1:p.Asp49Ala, XP_047291804.1:p.Asp65Ala, XP_047291793.1:p.Asp49Ala, XP_047291806.1:p.Asp49Ala, NP_001381702.1:p.Asp49Ala, XP_047291807.1:p.Asp49Ala, NP_001381699.1:p.Asp49Ala, XP_047291795.1:p.Asp49Ala, XP_047291810.1:p.Asp49Ala, NP_001381705.1:p.Asp57Ala, NP_001381691.1:p.Asp57Ala, NP_001381693.1:p.Asp57Ala, XP_047291802.1:p.Asp57Ala, NP_001381695.1:p.Asp49Ala, XP_047291811.1:p.Asp49Ala, NP_001381700.1:p.Asp49Ala, NP_001381701.1:p.Asp49Ala, NP_001381703.1:p.Asp65Ala, NP_001381704.1:p.Asp65Ala, NP_001381706.1:p.Asp65Ala

                          13.

                          rs1470928760 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:82055768 (GRCh38)
                            17:80013644 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:82055767:C:T
                            Gene:
                            GPS1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000006/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.82055768C>T, NC_000017.10:g.80013644C>T, NM_004127.7:c.789C>T, NM_004127.6:c.789C>T, NM_004127.5:c.789C>T, NM_004127.4:c.789C>T, XM_005256360.5:c.777C>T, XM_005256360.4:c.777C>T, XM_005256360.3:c.777C>T, XM_005256360.2:c.777C>T, XM_005256360.1:c.777C>T, NM_212492.4:c.897C>T, NM_212492.3:c.897C>T, NM_212492.2:c.897C>T, NM_212492.1:c.897C>T, NM_001321089.3:c.993C>T, NM_001321089.2:c.993C>T, NM_001321089.1:c.993C>T, NM_001321090.3:c.981C>T, NM_001321090.2:c.981C>T, NM_001321090.1:c.981C>T, NM_001321091.3:c.978C>T, NM_001321091.2:c.978C>T, NM_001321091.1:c.978C>T, XM_017024524.3:c.738C>T, XM_017024524.2:c.738C>T, XM_017024524.1:c.738C>T, XM_017024531.3:c.726C>T, XM_017024531.2:c.726C>T, XM_017024531.1:c.726C>T, XM_005256359.3:c.789C>T, XM_005256359.2:c.789C>T, XM_005256359.1:c.789C>T, NM_001321093.3:c.729C>T, NM_001321093.2:c.729C>T, NM_001321093.1:c.729C>T, XM_017024527.3:c.774C>T, XM_017024527.2:c.774C>T, XM_017024527.1:c.774C>T, NM_001330541.3:c.786C>T, NM_001330541.2:c.786C>T, NM_001330541.1:c.786C>T, NM_001321092.3:c.777C>T, NM_001321092.2:c.777C>T, NM_001321092.1:c.777C>T, NM_001330539.3:c.774C>T, NM_001330539.2:c.774C>T, NM_001330539.1:c.774C>T, XM_005256350.2:c.993C>T, XM_005256350.1:c.993C>T, XM_005256353.2:c.981C>T, XM_005256353.1:c.981C>T, XM_017024525.2:c.978C>T, XM_017024525.1:c.978C>T, XM_047435833.1:c.990C>T, XM_047435831.1:c.990C>T, XM_047435841.1:c.909C>T, XM_047435835.1:c.978C>T, XM_047435845.1:c.897C>T, XM_047435838.1:c.990C>T, NM_001394759.1:c.990C>T, XM_047435840.1:c.987C>T, NM_001394760.1:c.909C>T, XM_047435842.1:c.978C>T, XM_047435843.1:c.975C>T, XM_047435847.1:c.897C>T, NM_001394761.1:c.894C>T, XM_047435849.1:c.741C>T, XM_047435829.1:c.741C>T, XM_047435853.1:c.729C>T, XM_047435830.1:c.729C>T, XM_047435832.1:c.726C>T, NM_001394763.1:c.753C>T, NM_001394765.1:c.741C>T, NM_001394767.1:c.741C>T, NM_001394768.1:c.738C>T, NM_001394769.1:c.729C>T, XM_047435836.1:c.741C>T, XM_047435848.1:c.786C>T, XM_047435837.1:c.738C>T, XM_047435850.1:c.741C>T, NM_001394773.1:c.726C>T, XM_047435851.1:c.738C>T, NM_001394770.1:c.729C>T, XM_047435839.1:c.726C>T, XM_047435854.1:c.729C>T, NM_001394776.1:c.753C>T, NM_001394762.1:c.753C>T, NM_001394764.1:c.750C>T, XM_047435846.1:c.753C>T, NM_001394766.1:c.741C>T, XM_047435855.1:c.738C>T, NM_001394771.1:c.729C>T, NM_001394772.1:c.726C>T, NM_001394774.1:c.789C>T, NM_001394775.1:c.777C>T, NM_001394777.1:c.789C>T

                            14.

                            rs1470909556 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              17:82056881 (GRCh38)
                              17:80014757 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:82056880:T:G
                              Gene:
                              GPS1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,intron_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_000017.11:g.82056881T>G, NC_000017.10:g.80014757T>G, NM_004127.7:c.1308T>G, NM_004127.6:c.1308T>G, NM_004127.5:c.1308T>G, NM_004127.4:c.1308T>G, XM_005256360.5:c.1296T>G, XM_005256360.4:c.1296T>G, XM_005256360.3:c.1296T>G, XM_005256360.2:c.1296T>G, XM_005256360.1:c.1296T>G, NM_212492.4:c.1416T>G, NM_212492.3:c.1416T>G, NM_212492.2:c.1416T>G, NM_212492.1:c.1416T>G, NM_001321089.3:c.1512T>G, NM_001321089.2:c.1512T>G, NM_001321089.1:c.1512T>G, NM_001321090.3:c.1500T>G, NM_001321090.2:c.1500T>G, NM_001321090.1:c.1500T>G, NM_001321091.3:c.1497T>G, NM_001321091.2:c.1497T>G, NM_001321091.1:c.1497T>G, XM_017024524.3:c.1257T>G, XM_017024524.2:c.1257T>G, XM_017024524.1:c.1257T>G, XM_017024531.3:c.1245T>G, XM_017024531.2:c.1245T>G, XM_017024531.1:c.1245T>G, XM_005256359.3:c.1308T>G, XM_005256359.2:c.1308T>G, XM_005256359.1:c.1308T>G, NM_001321093.3:c.1248T>G, NM_001321093.2:c.1248T>G, NM_001321093.1:c.1248T>G, XM_017024527.3:c.1293T>G, XM_017024527.2:c.1293T>G, XM_017024527.1:c.1293T>G, NM_001330541.3:c.1305T>G, NM_001330541.2:c.1305T>G, NM_001330541.1:c.1305T>G, NM_001321092.3:c.1296T>G, NM_001321092.2:c.1296T>G, NM_001321092.1:c.1296T>G, NM_001330539.3:c.1293T>G, NM_001330539.2:c.1293T>G, NM_001330539.1:c.1293T>G, XM_005256350.2:c.1512T>G, XM_005256350.1:c.1512T>G, XM_005256353.2:c.1500T>G, XM_005256353.1:c.1500T>G, XM_017024525.2:c.1497T>G, XM_017024525.1:c.1497T>G, XM_047435833.1:c.1509T>G, XM_047435831.1:c.1509T>G, XM_047435841.1:c.1428T>G, XM_047435835.1:c.1497T>G, XM_047435845.1:c.1416T>G, XM_047435838.1:c.1509T>G, NM_001394759.1:c.1509T>G, XM_047435840.1:c.1506T>G, NM_001394760.1:c.1428T>G, XM_047435842.1:c.1497T>G, XM_047435843.1:c.1494T>G, XM_047435847.1:c.1416T>G, NM_001394761.1:c.1413T>G, XM_047435849.1:c.1260T>G, XM_047435829.1:c.1260T>G, XM_047435853.1:c.1248T>G, XM_047435830.1:c.1248T>G, XM_047435832.1:c.1245T>G, NM_001394763.1:c.1272T>G, NM_001394765.1:c.1260T>G, NM_001394767.1:c.1260T>G, NM_001394768.1:c.1257T>G, NM_001394769.1:c.1248T>G, XM_047435836.1:c.1260T>G, XM_047435848.1:c.1305T>G, XM_047435837.1:c.1257T>G, XM_047435850.1:c.1260T>G, NM_001394773.1:c.1245T>G, XM_047435851.1:c.1257T>G, NM_001394770.1:c.1248T>G, XM_047435839.1:c.1245T>G, XM_047435854.1:c.1248T>G, NM_001394776.1:c.1191T>G, NM_001394762.1:c.1272T>G, NM_001394764.1:c.1269T>G, XM_047435846.1:c.1272T>G, NM_001394766.1:c.1260T>G, XM_047435855.1:c.1257T>G, NM_001394771.1:c.1248T>G, NM_001394772.1:c.1245T>G, NM_001394774.1:c.1227T>G, NM_001394775.1:c.1215T>G, NP_004118.3:p.Phe436Leu, XP_005256417.1:p.Phe432Leu, NP_997657.1:p.Phe472Leu, NP_001308018.1:p.Phe504Leu, NP_001308019.1:p.Phe500Leu, NP_001308020.1:p.Phe499Leu, XP_016880013.1:p.Phe419Leu, XP_016880020.1:p.Phe415Leu, XP_005256416.1:p.Phe436Leu, NP_001308022.1:p.Phe416Leu, XP_016880016.1:p.Phe431Leu, NP_001317470.1:p.Phe435Leu, NP_001308021.1:p.Phe432Leu, NP_001317468.1:p.Phe431Leu, XP_005256407.1:p.Phe504Leu, XP_005256410.1:p.Phe500Leu, XP_016880014.1:p.Phe499Leu, XP_047291789.1:p.Phe503Leu, XP_047291787.1:p.Phe503Leu, XP_047291797.1:p.Phe476Leu, XP_047291791.1:p.Phe499Leu, XP_047291801.1:p.Phe472Leu, XP_047291794.1:p.Phe503Leu, NP_001381688.1:p.Phe503Leu, XP_047291796.1:p.Phe502Leu, NP_001381689.1:p.Phe476Leu, XP_047291798.1:p.Phe499Leu, XP_047291799.1:p.Phe498Leu, XP_047291803.1:p.Phe472Leu, NP_001381690.1:p.Phe471Leu, XP_047291805.1:p.Phe420Leu, XP_047291785.1:p.Phe420Leu, XP_047291809.1:p.Phe416Leu, XP_047291786.1:p.Phe416Leu, XP_047291788.1:p.Phe415Leu, NP_001381692.1:p.Phe424Leu, NP_001381694.1:p.Phe420Leu, NP_001381696.1:p.Phe420Leu, NP_001381697.1:p.Phe419Leu, NP_001381698.1:p.Phe416Leu, XP_047291792.1:p.Phe420Leu, XP_047291804.1:p.Phe435Leu, XP_047291793.1:p.Phe419Leu, XP_047291806.1:p.Phe420Leu, NP_001381702.1:p.Phe415Leu, XP_047291807.1:p.Phe419Leu, NP_001381699.1:p.Phe416Leu, XP_047291795.1:p.Phe415Leu, XP_047291810.1:p.Phe416Leu, NP_001381705.1:p.Phe397Leu, NP_001381691.1:p.Phe424Leu, NP_001381693.1:p.Phe423Leu, XP_047291802.1:p.Phe424Leu, NP_001381695.1:p.Phe420Leu, XP_047291811.1:p.Phe419Leu, NP_001381700.1:p.Phe416Leu, NP_001381701.1:p.Phe415Leu, NP_001381703.1:p.Phe409Leu, NP_001381704.1:p.Phe405Leu

                              15.

                              rs1468397135 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                17:82056656 (GRCh38)
                                17:80014532 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:82056655:A:G
                                Gene:
                                GPS1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.82056656A>G, NC_000017.10:g.80014532A>G, NM_004127.7:c.1156A>G, NM_004127.6:c.1156A>G, NM_004127.5:c.1156A>G, NM_004127.4:c.1156A>G, XM_005256360.5:c.1144A>G, XM_005256360.4:c.1144A>G, XM_005256360.3:c.1144A>G, XM_005256360.2:c.1144A>G, XM_005256360.1:c.1144A>G, NM_212492.4:c.1264A>G, NM_212492.3:c.1264A>G, NM_212492.2:c.1264A>G, NM_212492.1:c.1264A>G, NM_001321089.3:c.1360A>G, NM_001321089.2:c.1360A>G, NM_001321089.1:c.1360A>G, NM_001321090.3:c.1348A>G, NM_001321090.2:c.1348A>G, NM_001321090.1:c.1348A>G, NM_001321091.3:c.1345A>G, NM_001321091.2:c.1345A>G, NM_001321091.1:c.1345A>G, XM_017024524.3:c.1105A>G, XM_017024524.2:c.1105A>G, XM_017024524.1:c.1105A>G, XM_017024531.3:c.1093A>G, XM_017024531.2:c.1093A>G, XM_017024531.1:c.1093A>G, XM_005256359.3:c.1156A>G, XM_005256359.2:c.1156A>G, XM_005256359.1:c.1156A>G, NM_001321093.3:c.1096A>G, NM_001321093.2:c.1096A>G, NM_001321093.1:c.1096A>G, XM_017024527.3:c.1141A>G, XM_017024527.2:c.1141A>G, XM_017024527.1:c.1141A>G, NM_001330541.3:c.1153A>G, NM_001330541.2:c.1153A>G, NM_001330541.1:c.1153A>G, NM_001321092.3:c.1144A>G, NM_001321092.2:c.1144A>G, NM_001321092.1:c.1144A>G, NM_001330539.3:c.1141A>G, NM_001330539.2:c.1141A>G, NM_001330539.1:c.1141A>G, XM_005256350.2:c.1360A>G, XM_005256350.1:c.1360A>G, XM_005256353.2:c.1348A>G, XM_005256353.1:c.1348A>G, XM_017024525.2:c.1345A>G, XM_017024525.1:c.1345A>G, XM_047435833.1:c.1357A>G, XM_047435831.1:c.1357A>G, XM_047435841.1:c.1276A>G, XM_047435835.1:c.1345A>G, XM_047435845.1:c.1264A>G, XM_047435838.1:c.1357A>G, NM_001394759.1:c.1357A>G, XM_047435840.1:c.1354A>G, NM_001394760.1:c.1276A>G, XM_047435842.1:c.1345A>G, XM_047435843.1:c.1342A>G, XM_047435847.1:c.1264A>G, NM_001394761.1:c.1261A>G, XM_047435849.1:c.1108A>G, XM_047435829.1:c.1108A>G, XM_047435853.1:c.1096A>G, XM_047435830.1:c.1096A>G, XM_047435832.1:c.1093A>G, NM_001394763.1:c.1120A>G, NM_001394765.1:c.1108A>G, NM_001394767.1:c.1108A>G, NM_001394768.1:c.1105A>G, NM_001394769.1:c.1096A>G, XM_047435836.1:c.1108A>G, XM_047435848.1:c.1153A>G, XM_047435837.1:c.1105A>G, XM_047435850.1:c.1108A>G, NM_001394773.1:c.1093A>G, XM_047435851.1:c.1105A>G, NM_001394770.1:c.1096A>G, XM_047435839.1:c.1093A>G, XM_047435854.1:c.1096A>G, NM_001394776.1:c.1039A>G, NM_001394762.1:c.1120A>G, NM_001394764.1:c.1117A>G, XM_047435846.1:c.1120A>G, NM_001394766.1:c.1108A>G, XM_047435855.1:c.1105A>G, NM_001394771.1:c.1096A>G, NM_001394772.1:c.1093A>G, NM_001394774.1:c.1075A>G, NM_001394775.1:c.1063A>G, NM_001394777.1:c.1156A>G, NP_004118.3:p.Met386Val, XP_005256417.1:p.Met382Val, NP_997657.1:p.Met422Val, NP_001308018.1:p.Met454Val, NP_001308019.1:p.Met450Val, NP_001308020.1:p.Met449Val, XP_016880013.1:p.Met369Val, XP_016880020.1:p.Met365Val, XP_005256416.1:p.Met386Val, NP_001308022.1:p.Met366Val, XP_016880016.1:p.Met381Val, NP_001317470.1:p.Met385Val, NP_001308021.1:p.Met382Val, NP_001317468.1:p.Met381Val, XP_005256407.1:p.Met454Val, XP_005256410.1:p.Met450Val, XP_016880014.1:p.Met449Val, XP_047291789.1:p.Met453Val, XP_047291787.1:p.Met453Val, XP_047291797.1:p.Met426Val, XP_047291791.1:p.Met449Val, XP_047291801.1:p.Met422Val, XP_047291794.1:p.Met453Val, NP_001381688.1:p.Met453Val, XP_047291796.1:p.Met452Val, NP_001381689.1:p.Met426Val, XP_047291798.1:p.Met449Val, XP_047291799.1:p.Met448Val, XP_047291803.1:p.Met422Val, NP_001381690.1:p.Met421Val, XP_047291805.1:p.Met370Val, XP_047291785.1:p.Met370Val, XP_047291809.1:p.Met366Val, XP_047291786.1:p.Met366Val, XP_047291788.1:p.Met365Val, NP_001381692.1:p.Met374Val, NP_001381694.1:p.Met370Val, NP_001381696.1:p.Met370Val, NP_001381697.1:p.Met369Val, NP_001381698.1:p.Met366Val, XP_047291792.1:p.Met370Val, XP_047291804.1:p.Met385Val, XP_047291793.1:p.Met369Val, XP_047291806.1:p.Met370Val, NP_001381702.1:p.Met365Val, XP_047291807.1:p.Met369Val, NP_001381699.1:p.Met366Val, XP_047291795.1:p.Met365Val, XP_047291810.1:p.Met366Val, NP_001381705.1:p.Met347Val, NP_001381691.1:p.Met374Val, NP_001381693.1:p.Met373Val, XP_047291802.1:p.Met374Val, NP_001381695.1:p.Met370Val, XP_047291811.1:p.Met369Val, NP_001381700.1:p.Met366Val, NP_001381701.1:p.Met365Val, NP_001381703.1:p.Met359Val, NP_001381704.1:p.Met355Val, NP_001381706.1:p.Met386Val

                                16.

                                rs1467562361 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  17:82055810 (GRCh38)
                                  17:80013686 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:82055809:C:A
                                  Gene:
                                  GPS1 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000017.11:g.82055810C>A, NC_000017.10:g.80013686C>A, NM_004127.7:c.831C>A, NM_004127.6:c.831C>A, NM_004127.5:c.831C>A, NM_004127.4:c.831C>A, XM_005256360.5:c.819C>A, XM_005256360.4:c.819C>A, XM_005256360.3:c.819C>A, XM_005256360.2:c.819C>A, XM_005256360.1:c.819C>A, NM_212492.4:c.939C>A, NM_212492.3:c.939C>A, NM_212492.2:c.939C>A, NM_212492.1:c.939C>A, NM_001321089.3:c.1035C>A, NM_001321089.2:c.1035C>A, NM_001321089.1:c.1035C>A, NM_001321090.3:c.1023C>A, NM_001321090.2:c.1023C>A, NM_001321090.1:c.1023C>A, NM_001321091.3:c.1020C>A, NM_001321091.2:c.1020C>A, NM_001321091.1:c.1020C>A, XM_017024524.3:c.780C>A, XM_017024524.2:c.780C>A, XM_017024524.1:c.780C>A, XM_017024531.3:c.768C>A, XM_017024531.2:c.768C>A, XM_017024531.1:c.768C>A, XM_005256359.3:c.831C>A, XM_005256359.2:c.831C>A, XM_005256359.1:c.831C>A, NM_001321093.3:c.771C>A, NM_001321093.2:c.771C>A, NM_001321093.1:c.771C>A, XM_017024527.3:c.816C>A, XM_017024527.2:c.816C>A, XM_017024527.1:c.816C>A, NM_001330541.3:c.828C>A, NM_001330541.2:c.828C>A, NM_001330541.1:c.828C>A, NM_001321092.3:c.819C>A, NM_001321092.2:c.819C>A, NM_001321092.1:c.819C>A, NM_001330539.3:c.816C>A, NM_001330539.2:c.816C>A, NM_001330539.1:c.816C>A, XM_005256350.2:c.1035C>A, XM_005256350.1:c.1035C>A, XM_005256353.2:c.1023C>A, XM_005256353.1:c.1023C>A, XM_017024525.2:c.1020C>A, XM_017024525.1:c.1020C>A, XM_047435833.1:c.1032C>A, XM_047435831.1:c.1032C>A, XM_047435841.1:c.951C>A, XM_047435835.1:c.1020C>A, XM_047435845.1:c.939C>A, XM_047435838.1:c.1032C>A, NM_001394759.1:c.1032C>A, XM_047435840.1:c.1029C>A, NM_001394760.1:c.951C>A, XM_047435842.1:c.1020C>A, XM_047435843.1:c.1017C>A, XM_047435847.1:c.939C>A, NM_001394761.1:c.936C>A, XM_047435849.1:c.783C>A, XM_047435829.1:c.783C>A, XM_047435853.1:c.771C>A, XM_047435830.1:c.771C>A, XM_047435832.1:c.768C>A, NM_001394763.1:c.795C>A, NM_001394765.1:c.783C>A, NM_001394767.1:c.783C>A, NM_001394768.1:c.780C>A, NM_001394769.1:c.771C>A, XM_047435836.1:c.783C>A, XM_047435848.1:c.828C>A, XM_047435837.1:c.780C>A, XM_047435850.1:c.783C>A, NM_001394773.1:c.768C>A, XM_047435851.1:c.780C>A, NM_001394770.1:c.771C>A, XM_047435839.1:c.768C>A, XM_047435854.1:c.771C>A, NM_001394776.1:c.795C>A, NM_001394762.1:c.795C>A, NM_001394764.1:c.792C>A, XM_047435846.1:c.795C>A, NM_001394766.1:c.783C>A, XM_047435855.1:c.780C>A, NM_001394771.1:c.771C>A, NM_001394772.1:c.768C>A, NM_001394774.1:c.831C>A, NM_001394775.1:c.819C>A, NM_001394777.1:c.831C>A, NP_004118.3:p.His277Gln, XP_005256417.1:p.His273Gln, NP_997657.1:p.His313Gln, NP_001308018.1:p.His345Gln, NP_001308019.1:p.His341Gln, NP_001308020.1:p.His340Gln, XP_016880013.1:p.His260Gln, XP_016880020.1:p.His256Gln, XP_005256416.1:p.His277Gln, NP_001308022.1:p.His257Gln, XP_016880016.1:p.His272Gln, NP_001317470.1:p.His276Gln, NP_001308021.1:p.His273Gln, NP_001317468.1:p.His272Gln, XP_005256407.1:p.His345Gln, XP_005256410.1:p.His341Gln, XP_016880014.1:p.His340Gln, XP_047291789.1:p.His344Gln, XP_047291787.1:p.His344Gln, XP_047291797.1:p.His317Gln, XP_047291791.1:p.His340Gln, XP_047291801.1:p.His313Gln, XP_047291794.1:p.His344Gln, NP_001381688.1:p.His344Gln, XP_047291796.1:p.His343Gln, NP_001381689.1:p.His317Gln, XP_047291798.1:p.His340Gln, XP_047291799.1:p.His339Gln, XP_047291803.1:p.His313Gln, NP_001381690.1:p.His312Gln, XP_047291805.1:p.His261Gln, XP_047291785.1:p.His261Gln, XP_047291809.1:p.His257Gln, XP_047291786.1:p.His257Gln, XP_047291788.1:p.His256Gln, NP_001381692.1:p.His265Gln, NP_001381694.1:p.His261Gln, NP_001381696.1:p.His261Gln, NP_001381697.1:p.His260Gln, NP_001381698.1:p.His257Gln, XP_047291792.1:p.His261Gln, XP_047291804.1:p.His276Gln, XP_047291793.1:p.His260Gln, XP_047291806.1:p.His261Gln, NP_001381702.1:p.His256Gln, XP_047291807.1:p.His260Gln, NP_001381699.1:p.His257Gln, XP_047291795.1:p.His256Gln, XP_047291810.1:p.His257Gln, NP_001381705.1:p.His265Gln, NP_001381691.1:p.His265Gln, NP_001381693.1:p.His264Gln, XP_047291802.1:p.His265Gln, NP_001381695.1:p.His261Gln, XP_047291811.1:p.His260Gln, NP_001381700.1:p.His257Gln, NP_001381701.1:p.His256Gln, NP_001381703.1:p.His277Gln, NP_001381704.1:p.His273Gln, NP_001381706.1:p.His277Gln

                                  17.

                                  rs1466271239 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    17:82056843 (GRCh38)
                                    17:80014719 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:82056842:C:G,NC_000017.11:82056842:C:T
                                    Gene:
                                    GPS1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000017.11:g.82056843C>G, NC_000017.11:g.82056843C>T, NC_000017.10:g.80014719C>G, NC_000017.10:g.80014719C>T, NM_004127.7:c.1270C>G, NM_004127.7:c.1270C>T, NM_004127.6:c.1270C>G, NM_004127.6:c.1270C>T, NM_004127.5:c.1270C>G, NM_004127.5:c.1270C>T, NM_004127.4:c.1270C>G, NM_004127.4:c.1270C>T, XM_005256360.5:c.1258C>G, XM_005256360.5:c.1258C>T, XM_005256360.4:c.1258C>G, XM_005256360.4:c.1258C>T, XM_005256360.3:c.1258C>G, XM_005256360.3:c.1258C>T, XM_005256360.2:c.1258C>G, XM_005256360.2:c.1258C>T, XM_005256360.1:c.1258C>G, XM_005256360.1:c.1258C>T, NM_212492.4:c.1378C>G, NM_212492.4:c.1378C>T, NM_212492.3:c.1378C>G, NM_212492.3:c.1378C>T, NM_212492.2:c.1378C>G, NM_212492.2:c.1378C>T, NM_212492.1:c.1378C>G, NM_212492.1:c.1378C>T, NM_001321089.3:c.1474C>G, NM_001321089.3:c.1474C>T, NM_001321089.2:c.1474C>G, NM_001321089.2:c.1474C>T, NM_001321089.1:c.1474C>G, NM_001321089.1:c.1474C>T, NM_001321090.3:c.1462C>G, NM_001321090.3:c.1462C>T, NM_001321090.2:c.1462C>G, NM_001321090.2:c.1462C>T, NM_001321090.1:c.1462C>G, NM_001321090.1:c.1462C>T, NM_001321091.3:c.1459C>G, NM_001321091.3:c.1459C>T, NM_001321091.2:c.1459C>G, NM_001321091.2:c.1459C>T, NM_001321091.1:c.1459C>G, NM_001321091.1:c.1459C>T, XM_017024524.3:c.1219C>G, XM_017024524.3:c.1219C>T, XM_017024524.2:c.1219C>G, XM_017024524.2:c.1219C>T, XM_017024524.1:c.1219C>G, XM_017024524.1:c.1219C>T, XM_017024531.3:c.1207C>G, XM_017024531.3:c.1207C>T, XM_017024531.2:c.1207C>G, XM_017024531.2:c.1207C>T, XM_017024531.1:c.1207C>G, XM_017024531.1:c.1207C>T, XM_005256359.3:c.1270C>G, XM_005256359.3:c.1270C>T, XM_005256359.2:c.1270C>G, XM_005256359.2:c.1270C>T, XM_005256359.1:c.1270C>G, XM_005256359.1:c.1270C>T, NM_001321093.3:c.1210C>G, NM_001321093.3:c.1210C>T, NM_001321093.2:c.1210C>G, NM_001321093.2:c.1210C>T, NM_001321093.1:c.1210C>G, NM_001321093.1:c.1210C>T, XM_017024527.3:c.1255C>G, XM_017024527.3:c.1255C>T, XM_017024527.2:c.1255C>G, XM_017024527.2:c.1255C>T, XM_017024527.1:c.1255C>G, XM_017024527.1:c.1255C>T, NM_001330541.3:c.1267C>G, NM_001330541.3:c.1267C>T, NM_001330541.2:c.1267C>G, NM_001330541.2:c.1267C>T, NM_001330541.1:c.1267C>G, NM_001330541.1:c.1267C>T, NM_001321092.3:c.1258C>G, NM_001321092.3:c.1258C>T, NM_001321092.2:c.1258C>G, NM_001321092.2:c.1258C>T, NM_001321092.1:c.1258C>G, NM_001321092.1:c.1258C>T, NM_001330539.3:c.1255C>G, NM_001330539.3:c.1255C>T, NM_001330539.2:c.1255C>G, NM_001330539.2:c.1255C>T, NM_001330539.1:c.1255C>G, NM_001330539.1:c.1255C>T, XM_005256350.2:c.1474C>G, XM_005256350.2:c.1474C>T, XM_005256350.1:c.1474C>G, XM_005256350.1:c.1474C>T, XM_005256353.2:c.1462C>G, XM_005256353.2:c.1462C>T, XM_005256353.1:c.1462C>G, XM_005256353.1:c.1462C>T, XM_017024525.2:c.1459C>G, XM_017024525.2:c.1459C>T, XM_017024525.1:c.1459C>G, XM_017024525.1:c.1459C>T, XM_047435833.1:c.1471C>G, XM_047435833.1:c.1471C>T, XM_047435831.1:c.1471C>G, XM_047435831.1:c.1471C>T, XM_047435841.1:c.1390C>G, XM_047435841.1:c.1390C>T, XM_047435835.1:c.1459C>G, XM_047435835.1:c.1459C>T, XM_047435845.1:c.1378C>G, XM_047435845.1:c.1378C>T, XM_047435838.1:c.1471C>G, XM_047435838.1:c.1471C>T, NM_001394759.1:c.1471C>G, NM_001394759.1:c.1471C>T, XM_047435840.1:c.1468C>G, XM_047435840.1:c.1468C>T, NM_001394760.1:c.1390C>G, NM_001394760.1:c.1390C>T, XM_047435842.1:c.1459C>G, XM_047435842.1:c.1459C>T, XM_047435843.1:c.1456C>G, XM_047435843.1:c.1456C>T, XM_047435847.1:c.1378C>G, XM_047435847.1:c.1378C>T, NM_001394761.1:c.1375C>G, NM_001394761.1:c.1375C>T, XM_047435849.1:c.1222C>G, XM_047435849.1:c.1222C>T, XM_047435829.1:c.1222C>G, XM_047435829.1:c.1222C>T, XM_047435853.1:c.1210C>G, XM_047435853.1:c.1210C>T, XM_047435830.1:c.1210C>G, XM_047435830.1:c.1210C>T, XM_047435832.1:c.1207C>G, XM_047435832.1:c.1207C>T, NM_001394763.1:c.1234C>G, NM_001394763.1:c.1234C>T, NM_001394765.1:c.1222C>G, NM_001394765.1:c.1222C>T, NM_001394767.1:c.1222C>G, NM_001394767.1:c.1222C>T, NM_001394768.1:c.1219C>G, NM_001394768.1:c.1219C>T, NM_001394769.1:c.1210C>G, NM_001394769.1:c.1210C>T, XM_047435836.1:c.1222C>G, XM_047435836.1:c.1222C>T, XM_047435848.1:c.1267C>G, XM_047435848.1:c.1267C>T, XM_047435837.1:c.1219C>G, XM_047435837.1:c.1219C>T, XM_047435850.1:c.1222C>G, XM_047435850.1:c.1222C>T, NM_001394773.1:c.1207C>G, NM_001394773.1:c.1207C>T, XM_047435851.1:c.1219C>G, XM_047435851.1:c.1219C>T, NM_001394770.1:c.1210C>G, NM_001394770.1:c.1210C>T, XM_047435839.1:c.1207C>G, XM_047435839.1:c.1207C>T, XM_047435854.1:c.1210C>G, XM_047435854.1:c.1210C>T, NM_001394776.1:c.1153C>G, NM_001394776.1:c.1153C>T, NM_001394762.1:c.1234C>G, NM_001394762.1:c.1234C>T, NM_001394764.1:c.1231C>G, NM_001394764.1:c.1231C>T, XM_047435846.1:c.1234C>G, XM_047435846.1:c.1234C>T, NM_001394766.1:c.1222C>G, NM_001394766.1:c.1222C>T, XM_047435855.1:c.1219C>G, XM_047435855.1:c.1219C>T, NM_001394771.1:c.1210C>G, NM_001394771.1:c.1210C>T, NM_001394772.1:c.1207C>G, NM_001394772.1:c.1207C>T, NM_001394774.1:c.1189C>G, NM_001394774.1:c.1189C>T, NM_001394775.1:c.1177C>G, NM_001394775.1:c.1177C>T, NP_004118.3:p.Leu424Val, XP_005256417.1:p.Leu420Val, NP_997657.1:p.Leu460Val, NP_001308018.1:p.Leu492Val, NP_001308019.1:p.Leu488Val, NP_001308020.1:p.Leu487Val, XP_016880013.1:p.Leu407Val, XP_016880020.1:p.Leu403Val, XP_005256416.1:p.Leu424Val, NP_001308022.1:p.Leu404Val, XP_016880016.1:p.Leu419Val, NP_001317470.1:p.Leu423Val, NP_001308021.1:p.Leu420Val, NP_001317468.1:p.Leu419Val, XP_005256407.1:p.Leu492Val, XP_005256410.1:p.Leu488Val, XP_016880014.1:p.Leu487Val, XP_047291789.1:p.Leu491Val, XP_047291787.1:p.Leu491Val, XP_047291797.1:p.Leu464Val, XP_047291791.1:p.Leu487Val, XP_047291801.1:p.Leu460Val, XP_047291794.1:p.Leu491Val, NP_001381688.1:p.Leu491Val, XP_047291796.1:p.Leu490Val, NP_001381689.1:p.Leu464Val, XP_047291798.1:p.Leu487Val, XP_047291799.1:p.Leu486Val, XP_047291803.1:p.Leu460Val, NP_001381690.1:p.Leu459Val, XP_047291805.1:p.Leu408Val, XP_047291785.1:p.Leu408Val, XP_047291809.1:p.Leu404Val, XP_047291786.1:p.Leu404Val, XP_047291788.1:p.Leu403Val, NP_001381692.1:p.Leu412Val, NP_001381694.1:p.Leu408Val, NP_001381696.1:p.Leu408Val, NP_001381697.1:p.Leu407Val, NP_001381698.1:p.Leu404Val, XP_047291792.1:p.Leu408Val, XP_047291804.1:p.Leu423Val, XP_047291793.1:p.Leu407Val, XP_047291806.1:p.Leu408Val, NP_001381702.1:p.Leu403Val, XP_047291807.1:p.Leu407Val, NP_001381699.1:p.Leu404Val, XP_047291795.1:p.Leu403Val, XP_047291810.1:p.Leu404Val, NP_001381705.1:p.Leu385Val, NP_001381691.1:p.Leu412Val, NP_001381693.1:p.Leu411Val, XP_047291802.1:p.Leu412Val, NP_001381695.1:p.Leu408Val, XP_047291811.1:p.Leu407Val, NP_001381700.1:p.Leu404Val, NP_001381701.1:p.Leu403Val, NP_001381703.1:p.Leu397Val, NP_001381704.1:p.Leu393Val

                                    18.

                                    rs1466204732 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      17:82054682 (GRCh38)
                                      17:80012558 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:82054681:C:A
                                      Gene:
                                      GPS1 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.82054682C>A, NC_000017.10:g.80012558C>A, NM_004127.7:c.493C>A, NM_004127.6:c.493C>A, NM_004127.5:c.493C>A, NM_004127.4:c.493C>A, XM_005256360.5:c.481C>A, XM_005256360.4:c.481C>A, XM_005256360.3:c.481C>A, XM_005256360.2:c.481C>A, XM_005256360.1:c.481C>A, NM_212492.4:c.601C>A, NM_212492.3:c.601C>A, NM_212492.2:c.601C>A, NM_212492.1:c.601C>A, NM_001321089.3:c.697C>A, NM_001321089.2:c.697C>A, NM_001321089.1:c.697C>A, NM_001321090.3:c.685C>A, NM_001321090.2:c.685C>A, NM_001321090.1:c.685C>A, NM_001321091.3:c.685C>A, NM_001321091.2:c.685C>A, NM_001321091.1:c.685C>A, XM_017024524.3:c.445C>A, XM_017024524.2:c.445C>A, XM_017024524.1:c.445C>A, XM_017024531.3:c.433C>A, XM_017024531.2:c.433C>A, XM_017024531.1:c.433C>A, XM_005256359.3:c.493C>A, XM_005256359.2:c.493C>A, XM_005256359.1:c.493C>A, NM_001321093.3:c.433C>A, NM_001321093.2:c.433C>A, NM_001321093.1:c.433C>A, XM_017024527.3:c.481C>A, XM_017024527.2:c.481C>A, XM_017024527.1:c.481C>A, NM_001330541.3:c.493C>A, NM_001330541.2:c.493C>A, NM_001330541.1:c.493C>A, NM_001321092.3:c.481C>A, NM_001321092.2:c.481C>A, NM_001321092.1:c.481C>A, NM_001330539.3:c.481C>A, NM_001330539.2:c.481C>A, NM_001330539.1:c.481C>A, XM_005256350.2:c.697C>A, XM_005256350.1:c.697C>A, XM_005256353.2:c.685C>A, XM_005256353.1:c.685C>A, XM_017024525.2:c.685C>A, XM_017024525.1:c.685C>A, XM_047435833.1:c.694C>A, XM_047435831.1:c.697C>A, XM_047435841.1:c.613C>A, XM_047435835.1:c.682C>A, XM_047435845.1:c.601C>A, XM_047435838.1:c.694C>A, NM_001394759.1:c.697C>A, XM_047435840.1:c.694C>A, NM_001394760.1:c.613C>A, XM_047435842.1:c.682C>A, XM_047435843.1:c.682C>A, XM_047435847.1:c.601C>A, NM_001394761.1:c.601C>A, XM_047435849.1:c.445C>A, XM_047435829.1:c.445C>A, XM_047435853.1:c.433C>A, XM_047435830.1:c.433C>A, XM_047435832.1:c.433C>A, NM_001394763.1:c.457C>A, NM_001394765.1:c.445C>A, NM_001394767.1:c.445C>A, NM_001394768.1:c.445C>A, NM_001394769.1:c.433C>A, XM_047435836.1:c.445C>A, XM_047435848.1:c.493C>A, XM_047435837.1:c.445C>A, XM_047435850.1:c.445C>A, NM_001394773.1:c.433C>A, XM_047435851.1:c.445C>A, NM_001394770.1:c.433C>A, XM_047435839.1:c.433C>A, XM_047435854.1:c.433C>A, NM_001394776.1:c.457C>A, NM_001394762.1:c.457C>A, NM_001394764.1:c.457C>A, XM_047435846.1:c.457C>A, NM_001394766.1:c.445C>A, XM_047435855.1:c.445C>A, NM_001394771.1:c.433C>A, NM_001394772.1:c.433C>A, NM_001394774.1:c.493C>A, NM_001394775.1:c.481C>A, NM_001394777.1:c.493C>A, NP_004118.3:p.His165Asn, XP_005256417.1:p.His161Asn, NP_997657.1:p.His201Asn, NP_001308018.1:p.His233Asn, NP_001308019.1:p.His229Asn, NP_001308020.1:p.His229Asn, XP_016880013.1:p.His149Asn, XP_016880020.1:p.His145Asn, XP_005256416.1:p.His165Asn, NP_001308022.1:p.His145Asn, XP_016880016.1:p.His161Asn, NP_001317470.1:p.His165Asn, NP_001308021.1:p.His161Asn, NP_001317468.1:p.His161Asn, XP_005256407.1:p.His233Asn, XP_005256410.1:p.His229Asn, XP_016880014.1:p.His229Asn, XP_047291789.1:p.His232Asn, XP_047291787.1:p.His233Asn, XP_047291797.1:p.His205Asn, XP_047291791.1:p.His228Asn, XP_047291801.1:p.His201Asn, XP_047291794.1:p.His232Asn, NP_001381688.1:p.His233Asn, XP_047291796.1:p.His232Asn, NP_001381689.1:p.His205Asn, XP_047291798.1:p.His228Asn, XP_047291799.1:p.His228Asn, XP_047291803.1:p.His201Asn, NP_001381690.1:p.His201Asn, XP_047291805.1:p.His149Asn, XP_047291785.1:p.His149Asn, XP_047291809.1:p.His145Asn, XP_047291786.1:p.His145Asn, XP_047291788.1:p.His145Asn, NP_001381692.1:p.His153Asn, NP_001381694.1:p.His149Asn, NP_001381696.1:p.His149Asn, NP_001381697.1:p.His149Asn, NP_001381698.1:p.His145Asn, XP_047291792.1:p.His149Asn, XP_047291804.1:p.His165Asn, XP_047291793.1:p.His149Asn, XP_047291806.1:p.His149Asn, NP_001381702.1:p.His145Asn, XP_047291807.1:p.His149Asn, NP_001381699.1:p.His145Asn, XP_047291795.1:p.His145Asn, XP_047291810.1:p.His145Asn, NP_001381705.1:p.His153Asn, NP_001381691.1:p.His153Asn, NP_001381693.1:p.His153Asn, XP_047291802.1:p.His153Asn, NP_001381695.1:p.His149Asn, XP_047291811.1:p.His149Asn, NP_001381700.1:p.His145Asn, NP_001381701.1:p.His145Asn, NP_001381703.1:p.His165Asn, NP_001381704.1:p.His161Asn, NP_001381706.1:p.His165Asn

                                      19.

                                      rs1465682782 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:82054587 (GRCh38)
                                        17:80012463 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:82054586:C:T
                                        Gene:
                                        GPS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.82054587C>T, NC_000017.10:g.80012463C>T, NM_004127.7:c.398C>T, NM_004127.6:c.398C>T, NM_004127.5:c.398C>T, NM_004127.4:c.398C>T, XM_005256360.5:c.386C>T, XM_005256360.4:c.386C>T, XM_005256360.3:c.386C>T, XM_005256360.2:c.386C>T, XM_005256360.1:c.386C>T, NM_212492.4:c.506C>T, NM_212492.3:c.506C>T, NM_212492.2:c.506C>T, NM_212492.1:c.506C>T, NM_001321089.3:c.602C>T, NM_001321089.2:c.602C>T, NM_001321089.1:c.602C>T, NM_001321090.3:c.590C>T, NM_001321090.2:c.590C>T, NM_001321090.1:c.590C>T, NM_001321091.3:c.590C>T, NM_001321091.2:c.590C>T, NM_001321091.1:c.590C>T, XM_017024524.3:c.350C>T, XM_017024524.2:c.350C>T, XM_017024524.1:c.350C>T, XM_017024531.3:c.338C>T, XM_017024531.2:c.338C>T, XM_017024531.1:c.338C>T, XM_005256359.3:c.398C>T, XM_005256359.2:c.398C>T, XM_005256359.1:c.398C>T, NM_001321093.3:c.338C>T, NM_001321093.2:c.338C>T, NM_001321093.1:c.338C>T, XM_017024527.3:c.386C>T, XM_017024527.2:c.386C>T, XM_017024527.1:c.386C>T, NM_001330541.3:c.398C>T, NM_001330541.2:c.398C>T, NM_001330541.1:c.398C>T, NM_001321092.3:c.386C>T, NM_001321092.2:c.386C>T, NM_001321092.1:c.386C>T, NM_001330539.3:c.386C>T, NM_001330539.2:c.386C>T, NM_001330539.1:c.386C>T, XM_005256350.2:c.602C>T, XM_005256350.1:c.602C>T, XM_005256353.2:c.590C>T, XM_005256353.1:c.590C>T, XM_017024525.2:c.590C>T, XM_017024525.1:c.590C>T, XM_047435833.1:c.599C>T, XM_047435831.1:c.602C>T, XM_047435841.1:c.518C>T, XM_047435835.1:c.587C>T, XM_047435845.1:c.506C>T, XM_047435838.1:c.599C>T, NM_001394759.1:c.602C>T, XM_047435840.1:c.599C>T, NM_001394760.1:c.518C>T, XM_047435842.1:c.587C>T, XM_047435843.1:c.587C>T, XM_047435847.1:c.506C>T, NM_001394761.1:c.506C>T, XM_047435849.1:c.350C>T, XM_047435829.1:c.350C>T, XM_047435853.1:c.338C>T, XM_047435830.1:c.338C>T, XM_047435832.1:c.338C>T, NM_001394763.1:c.362C>T, NM_001394765.1:c.350C>T, NM_001394767.1:c.350C>T, NM_001394768.1:c.350C>T, NM_001394769.1:c.338C>T, XM_047435836.1:c.350C>T, XM_047435848.1:c.398C>T, XM_047435837.1:c.350C>T, XM_047435850.1:c.350C>T, NM_001394773.1:c.338C>T, XM_047435851.1:c.350C>T, NM_001394770.1:c.338C>T, XM_047435839.1:c.338C>T, XM_047435854.1:c.338C>T, NM_001394776.1:c.362C>T, NM_001394762.1:c.362C>T, NM_001394764.1:c.362C>T, XM_047435846.1:c.362C>T, NM_001394766.1:c.350C>T, XM_047435855.1:c.350C>T, NM_001394771.1:c.338C>T, NM_001394772.1:c.338C>T, NM_001394774.1:c.398C>T, NM_001394775.1:c.386C>T, NM_001394777.1:c.398C>T, NP_004118.3:p.Ala133Val, XP_005256417.1:p.Ala129Val, NP_997657.1:p.Ala169Val, NP_001308018.1:p.Ala201Val, NP_001308019.1:p.Ala197Val, NP_001308020.1:p.Ala197Val, XP_016880013.1:p.Ala117Val, XP_016880020.1:p.Ala113Val, XP_005256416.1:p.Ala133Val, NP_001308022.1:p.Ala113Val, XP_016880016.1:p.Ala129Val, NP_001317470.1:p.Ala133Val, NP_001308021.1:p.Ala129Val, NP_001317468.1:p.Ala129Val, XP_005256407.1:p.Ala201Val, XP_005256410.1:p.Ala197Val, XP_016880014.1:p.Ala197Val, XP_047291789.1:p.Ala200Val, XP_047291787.1:p.Ala201Val, XP_047291797.1:p.Ala173Val, XP_047291791.1:p.Ala196Val, XP_047291801.1:p.Ala169Val, XP_047291794.1:p.Ala200Val, NP_001381688.1:p.Ala201Val, XP_047291796.1:p.Ala200Val, NP_001381689.1:p.Ala173Val, XP_047291798.1:p.Ala196Val, XP_047291799.1:p.Ala196Val, XP_047291803.1:p.Ala169Val, NP_001381690.1:p.Ala169Val, XP_047291805.1:p.Ala117Val, XP_047291785.1:p.Ala117Val, XP_047291809.1:p.Ala113Val, XP_047291786.1:p.Ala113Val, XP_047291788.1:p.Ala113Val, NP_001381692.1:p.Ala121Val, NP_001381694.1:p.Ala117Val, NP_001381696.1:p.Ala117Val, NP_001381697.1:p.Ala117Val, NP_001381698.1:p.Ala113Val, XP_047291792.1:p.Ala117Val, XP_047291804.1:p.Ala133Val, XP_047291793.1:p.Ala117Val, XP_047291806.1:p.Ala117Val, NP_001381702.1:p.Ala113Val, XP_047291807.1:p.Ala117Val, NP_001381699.1:p.Ala113Val, XP_047291795.1:p.Ala113Val, XP_047291810.1:p.Ala113Val, NP_001381705.1:p.Ala121Val, NP_001381691.1:p.Ala121Val, NP_001381693.1:p.Ala121Val, XP_047291802.1:p.Ala121Val, NP_001381695.1:p.Ala117Val, XP_047291811.1:p.Ala117Val, NP_001381700.1:p.Ala113Val, NP_001381701.1:p.Ala113Val, NP_001381703.1:p.Ala133Val, NP_001381704.1:p.Ala129Val, NP_001381706.1:p.Ala133Val

                                        20.

                                        rs1464706543 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:82055750 (GRCh38)
                                          17:80013626 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:82055749:G:C
                                          Gene:
                                          GPS1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000006/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.82055750G>C, NC_000017.10:g.80013626G>C, NM_004127.7:c.771G>C, NM_004127.6:c.771G>C, NM_004127.5:c.771G>C, NM_004127.4:c.771G>C, XM_005256360.5:c.759G>C, XM_005256360.4:c.759G>C, XM_005256360.3:c.759G>C, XM_005256360.2:c.759G>C, XM_005256360.1:c.759G>C, NM_212492.4:c.879G>C, NM_212492.3:c.879G>C, NM_212492.2:c.879G>C, NM_212492.1:c.879G>C, NM_001321089.3:c.975G>C, NM_001321089.2:c.975G>C, NM_001321089.1:c.975G>C, NM_001321090.3:c.963G>C, NM_001321090.2:c.963G>C, NM_001321090.1:c.963G>C, NM_001321091.3:c.960G>C, NM_001321091.2:c.960G>C, NM_001321091.1:c.960G>C, XM_017024524.3:c.720G>C, XM_017024524.2:c.720G>C, XM_017024524.1:c.720G>C, XM_017024531.3:c.708G>C, XM_017024531.2:c.708G>C, XM_017024531.1:c.708G>C, XM_005256359.3:c.771G>C, XM_005256359.2:c.771G>C, XM_005256359.1:c.771G>C, NM_001321093.3:c.711G>C, NM_001321093.2:c.711G>C, NM_001321093.1:c.711G>C, XM_017024527.3:c.756G>C, XM_017024527.2:c.756G>C, XM_017024527.1:c.756G>C, NM_001330541.3:c.768G>C, NM_001330541.2:c.768G>C, NM_001330541.1:c.768G>C, NM_001321092.3:c.759G>C, NM_001321092.2:c.759G>C, NM_001321092.1:c.759G>C, NM_001330539.3:c.756G>C, NM_001330539.2:c.756G>C, NM_001330539.1:c.756G>C, XM_005256350.2:c.975G>C, XM_005256350.1:c.975G>C, XM_005256353.2:c.963G>C, XM_005256353.1:c.963G>C, XM_017024525.2:c.960G>C, XM_017024525.1:c.960G>C, XM_047435833.1:c.972G>C, XM_047435831.1:c.972G>C, XM_047435841.1:c.891G>C, XM_047435835.1:c.960G>C, XM_047435845.1:c.879G>C, XM_047435838.1:c.972G>C, NM_001394759.1:c.972G>C, XM_047435840.1:c.969G>C, NM_001394760.1:c.891G>C, XM_047435842.1:c.960G>C, XM_047435843.1:c.957G>C, XM_047435847.1:c.879G>C, NM_001394761.1:c.876G>C, XM_047435849.1:c.723G>C, XM_047435829.1:c.723G>C, XM_047435853.1:c.711G>C, XM_047435830.1:c.711G>C, XM_047435832.1:c.708G>C, NM_001394763.1:c.735G>C, NM_001394765.1:c.723G>C, NM_001394767.1:c.723G>C, NM_001394768.1:c.720G>C, NM_001394769.1:c.711G>C, XM_047435836.1:c.723G>C, XM_047435848.1:c.768G>C, XM_047435837.1:c.720G>C, XM_047435850.1:c.723G>C, NM_001394773.1:c.708G>C, XM_047435851.1:c.720G>C, NM_001394770.1:c.711G>C, XM_047435839.1:c.708G>C, XM_047435854.1:c.711G>C, NM_001394776.1:c.735G>C, NM_001394762.1:c.735G>C, NM_001394764.1:c.732G>C, XM_047435846.1:c.735G>C, NM_001394766.1:c.723G>C, XM_047435855.1:c.720G>C, NM_001394771.1:c.711G>C, NM_001394772.1:c.708G>C, NM_001394774.1:c.771G>C, NM_001394775.1:c.759G>C, NM_001394777.1:c.771G>C, NP_004118.3:p.Glu257Asp, XP_005256417.1:p.Glu253Asp, NP_997657.1:p.Glu293Asp, NP_001308018.1:p.Glu325Asp, NP_001308019.1:p.Glu321Asp, NP_001308020.1:p.Glu320Asp, XP_016880013.1:p.Glu240Asp, XP_016880020.1:p.Glu236Asp, XP_005256416.1:p.Glu257Asp, NP_001308022.1:p.Glu237Asp, XP_016880016.1:p.Glu252Asp, NP_001317470.1:p.Glu256Asp, NP_001308021.1:p.Glu253Asp, NP_001317468.1:p.Glu252Asp, XP_005256407.1:p.Glu325Asp, XP_005256410.1:p.Glu321Asp, XP_016880014.1:p.Glu320Asp, XP_047291789.1:p.Glu324Asp, XP_047291787.1:p.Glu324Asp, XP_047291797.1:p.Glu297Asp, XP_047291791.1:p.Glu320Asp, XP_047291801.1:p.Glu293Asp, XP_047291794.1:p.Glu324Asp, NP_001381688.1:p.Glu324Asp, XP_047291796.1:p.Glu323Asp, NP_001381689.1:p.Glu297Asp, XP_047291798.1:p.Glu320Asp, XP_047291799.1:p.Glu319Asp, XP_047291803.1:p.Glu293Asp, NP_001381690.1:p.Glu292Asp, XP_047291805.1:p.Glu241Asp, XP_047291785.1:p.Glu241Asp, XP_047291809.1:p.Glu237Asp, XP_047291786.1:p.Glu237Asp, XP_047291788.1:p.Glu236Asp, NP_001381692.1:p.Glu245Asp, NP_001381694.1:p.Glu241Asp, NP_001381696.1:p.Glu241Asp, NP_001381697.1:p.Glu240Asp, NP_001381698.1:p.Glu237Asp, XP_047291792.1:p.Glu241Asp, XP_047291804.1:p.Glu256Asp, XP_047291793.1:p.Glu240Asp, XP_047291806.1:p.Glu241Asp, NP_001381702.1:p.Glu236Asp, XP_047291807.1:p.Glu240Asp, NP_001381699.1:p.Glu237Asp, XP_047291795.1:p.Glu236Asp, XP_047291810.1:p.Glu237Asp, NP_001381705.1:p.Glu245Asp, NP_001381691.1:p.Glu245Asp, NP_001381693.1:p.Glu244Asp, XP_047291802.1:p.Glu245Asp, NP_001381695.1:p.Glu241Asp, XP_047291811.1:p.Glu240Asp, NP_001381700.1:p.Glu237Asp, NP_001381701.1:p.Glu236Asp, NP_001381703.1:p.Glu257Asp, NP_001381704.1:p.Glu253Asp, NP_001381706.1:p.Glu257Asp

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