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Items: 1 to 20 of 441

1.

rs1489364410 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:59626004 (GRCh38)
    1:60091676 (GRCh37)
    Canonical SPDI:
    NC_000001.11:59626003:A:G
    Gene:
    FGGY (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000008/2 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.59626004A>G, NC_000001.10:g.60091676A>G, NG_030039.1:g.334052A>G, NM_018291.5:c.1028A>G, NM_018291.4:c.1028A>G, NM_018291.3:c.1028A>G, NR_103473.2:n.1116A>G, NR_103473.1:n.1198A>G, NM_001350792.2:c.860A>G, NM_001350792.1:c.860A>G, NM_001350793.2:c.860A>G, NM_001350793.1:c.860A>G, NM_001350790.2:c.1028A>G, NM_001350790.1:c.1028A>G, NM_001350791.2:c.1028A>G, NM_001350791.1:c.1028A>G, NM_001113411.2:c.1028A>G, NM_001113411.1:c.1028A>G, NM_001350794.2:c.1028A>G, NM_001350794.1:c.1028A>G, NM_001350797.2:c.626A>G, NM_001350797.1:c.626A>G, NM_001350799.2:c.692A>G, NM_001350799.1:c.692A>G, NM_001244714.2:c.764A>G, NM_001244714.1:c.764A>G, NM_001350796.2:c.692A>G, NM_001350796.1:c.692A>G, NM_001350795.2:c.764A>G, NM_001350795.1:c.764A>G, NM_001350798.2:c.692A>G, NM_001350798.1:c.692A>G, NM_001278224.2:c.131A>G, NM_001278224.1:c.131A>G, XM_011541736.4:c.764A>G, XM_011541736.3:c.764A>G, XM_011541736.2:c.764A>G, XM_011541736.1:c.764A>G, XM_017001670.3:c.626A>G, XM_017001670.2:c.626A>G, XM_017001670.1:c.626A>G, XM_017001643.3:c.1028A>G, XM_017001643.2:c.1028A>G, XM_017001643.1:c.1028A>G, XM_017001662.3:c.692A>G, XM_017001662.2:c.692A>G, XM_017001662.1:c.692A>G, XM_017001664.3:c.692A>G, XM_017001664.2:c.692A>G, XM_017001664.1:c.692A>G, XM_017001669.3:c.626A>G, XM_017001669.2:c.626A>G, XM_017001669.1:c.626A>G, XM_017001677.2:c.404A>G, XM_017001677.1:c.404A>G, XM_017001679.2:c.1028A>G, XM_017001679.1:c.1028A>G, XM_017001678.2:c.404A>G, XM_017001678.1:c.404A>G, XM_024448229.2:c.404A>G, XM_024448229.1:c.404A>G, XM_024448176.2:c.1028A>G, XM_024448176.1:c.1028A>G, XM_011541730.2:c.1028A>G, XM_011541730.1:c.1028A>G, XM_011541731.2:c.1028A>G, XM_011541731.1:c.1028A>G, XM_017001646.2:c.1028A>G, XM_017001646.1:c.1028A>G, XM_017001645.2:c.1028A>G, XM_017001645.1:c.1028A>G, XM_017001649.2:c.1028A>G, XM_017001649.1:c.1028A>G, XM_017001652.2:c.1028A>G, XM_017001652.1:c.1028A>G, XM_017001655.2:c.764A>G, XM_017001655.1:c.764A>G, XM_017001671.2:c.626A>G, XM_017001671.1:c.626A>G, XM_047424400.1:c.404A>G, XM_047424381.1:c.1028A>G, XM_047424394.1:c.626A>G, XM_047424398.1:c.626A>G, XM_047424382.1:c.1028A>G, XM_047424383.1:c.1028A>G, XM_047424384.1:c.1028A>G, XM_047424387.1:c.1028A>G, XM_047424380.1:c.1028A>G, XM_047424386.1:c.1028A>G, XM_047424388.1:c.1028A>G, XM_047424389.1:c.860A>G, XM_047424385.1:c.1028A>G, XM_047424396.1:c.626A>G, XM_047424395.1:c.626A>G, XM_047424397.1:c.626A>G, XM_047424391.1:c.764A>G, XM_047424393.1:c.692A>G, XM_047424392.1:c.692A>G, XM_017001668.1:c.626A>G, XM_047424390.1:c.764A>G, XM_047424399.1:c.404A>G, XR_007061930.1:n.1187A>G, XR_007061929.1:n.1137A>G, XM_047424401.1:c.371A>G, NP_060761.3:p.Gln343Arg, NP_001337721.1:p.Gln287Arg, NP_001337722.1:p.Gln287Arg, NP_001337719.1:p.Gln343Arg, NP_001337720.1:p.Gln343Arg, NP_001106882.1:p.Gln343Arg, NP_001337723.1:p.Gln343Arg, NP_001337726.1:p.Gln209Arg, NP_001337728.1:p.Gln231Arg, NP_001231643.1:p.Gln255Arg, NP_001337725.1:p.Gln231Arg, NP_001337724.1:p.Gln255Arg, NP_001337727.1:p.Gln231Arg, NP_001265153.1:p.Gln44Arg, XP_011540038.1:p.Gln255Arg, XP_016857159.1:p.Gln209Arg, XP_016857132.1:p.Gln343Arg, XP_016857151.1:p.Gln231Arg, XP_016857153.1:p.Gln231Arg, XP_016857158.1:p.Gln209Arg, XP_016857166.1:p.Gln135Arg, XP_016857168.1:p.Gln343Arg, XP_016857167.1:p.Gln135Arg, XP_024303997.1:p.Gln135Arg, XP_024303944.1:p.Gln343Arg, XP_011540032.1:p.Gln343Arg, XP_011540033.1:p.Gln343Arg, XP_016857135.1:p.Gln343Arg, XP_016857134.1:p.Gln343Arg, XP_016857138.1:p.Gln343Arg, XP_016857141.1:p.Gln343Arg, XP_016857144.1:p.Gln255Arg, XP_016857160.1:p.Gln209Arg, XP_047280356.1:p.Gln135Arg, XP_047280337.1:p.Gln343Arg, XP_047280350.1:p.Gln209Arg, XP_047280354.1:p.Gln209Arg, XP_047280338.1:p.Gln343Arg, XP_047280339.1:p.Gln343Arg, XP_047280340.1:p.Gln343Arg, XP_047280343.1:p.Gln343Arg, XP_047280336.1:p.Gln343Arg, XP_047280342.1:p.Gln343Arg, XP_047280344.1:p.Gln343Arg, XP_047280345.1:p.Gln287Arg, XP_047280341.1:p.Gln343Arg, XP_047280352.1:p.Gln209Arg, XP_047280351.1:p.Gln209Arg, XP_047280353.1:p.Gln209Arg, XP_047280347.1:p.Gln255Arg, XP_047280349.1:p.Gln231Arg, XP_047280348.1:p.Gln231Arg, XP_016857157.1:p.Gln209Arg, XP_047280346.1:p.Gln255Arg, XP_047280355.1:p.Gln135Arg, XP_047280357.1:p.Gln124Arg

    2.

    rs1489362529 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      1:59607813 (GRCh38)
      1:60073486 (GRCh37)
      Canonical SPDI:
      NC_000001.11:59607813::T
      Gene:
      FGGY (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.59607813_59607814insT, NC_000001.10:g.60073485_60073486insT, NG_030039.1:g.315861_315862insT, NM_018291.5:c.914_915insT, NM_018291.4:c.914_915insT, NM_018291.3:c.914_915insT, NR_103473.2:n.1002_1003insT, NR_103473.1:n.1084_1085insT, NM_001350792.2:c.746_747insT, NM_001350792.1:c.746_747insT, NM_001350793.2:c.746_747insT, NM_001350793.1:c.746_747insT, NM_001350790.2:c.914_915insT, NM_001350790.1:c.914_915insT, NM_001350791.2:c.914_915insT, NM_001350791.1:c.914_915insT, NM_001113411.2:c.914_915insT, NM_001113411.1:c.914_915insT, NM_001350794.2:c.914_915insT, NM_001350794.1:c.914_915insT, NM_001350797.2:c.512_513insT, NM_001350797.1:c.512_513insT, NM_001350799.2:c.578_579insT, NM_001350799.1:c.578_579insT, NM_001244714.2:c.650_651insT, NM_001244714.1:c.650_651insT, NM_001350796.2:c.578_579insT, NM_001350796.1:c.578_579insT, NM_001350795.2:c.650_651insT, NM_001350795.1:c.650_651insT, NM_001350798.2:c.578_579insT, NM_001350798.1:c.578_579insT, NM_001278224.2:c.17_18insT, NM_001278224.1:c.17_18insT, XM_011541736.4:c.650_651insT, XM_011541736.3:c.650_651insT, XM_011541736.2:c.650_651insT, XM_011541736.1:c.650_651insT, XM_017001670.3:c.512_513insT, XM_017001670.2:c.512_513insT, XM_017001670.1:c.512_513insT, XM_017001643.3:c.914_915insT, XM_017001643.2:c.914_915insT, XM_017001643.1:c.914_915insT, XM_017001662.3:c.578_579insT, XM_017001662.2:c.578_579insT, XM_017001662.1:c.578_579insT, XM_017001664.3:c.578_579insT, XM_017001664.2:c.578_579insT, XM_017001664.1:c.578_579insT, XM_017001669.3:c.512_513insT, XM_017001669.2:c.512_513insT, XM_017001669.1:c.512_513insT, XM_017001677.2:c.290_291insT, XM_017001677.1:c.290_291insT, XM_017001679.2:c.914_915insT, XM_017001679.1:c.914_915insT, XM_017001678.2:c.290_291insT, XM_017001678.1:c.290_291insT, XM_024448229.2:c.290_291insT, XM_024448229.1:c.290_291insT, XM_024448176.2:c.914_915insT, XM_024448176.1:c.914_915insT, XM_011541730.2:c.914_915insT, XM_011541730.1:c.914_915insT, XM_011541731.2:c.914_915insT, XM_011541731.1:c.914_915insT, XM_017001646.2:c.914_915insT, XM_017001646.1:c.914_915insT, XM_017001645.2:c.914_915insT, XM_017001645.1:c.914_915insT, XM_017001649.2:c.914_915insT, XM_017001649.1:c.914_915insT, XM_017001652.2:c.914_915insT, XM_017001652.1:c.914_915insT, XM_017001655.2:c.650_651insT, XM_017001655.1:c.650_651insT, XM_017001671.2:c.512_513insT, XM_017001671.1:c.512_513insT, XM_047424400.1:c.290_291insT, XM_047424381.1:c.914_915insT, XM_047424394.1:c.512_513insT, XM_047424398.1:c.512_513insT, XM_047424382.1:c.914_915insT, XM_047424383.1:c.914_915insT, XM_047424384.1:c.914_915insT, XM_047424387.1:c.914_915insT, XM_047424380.1:c.914_915insT, XM_047424386.1:c.914_915insT, XM_047424388.1:c.914_915insT, XM_047424389.1:c.746_747insT, XM_047424385.1:c.914_915insT, XM_047424396.1:c.512_513insT, XM_047424395.1:c.512_513insT, XM_047424397.1:c.512_513insT, XM_047424391.1:c.650_651insT, XM_047424393.1:c.578_579insT, XM_047424392.1:c.578_579insT, XM_017001668.1:c.512_513insT, XM_047424390.1:c.650_651insT, XM_047424399.1:c.290_291insT, XR_007061930.1:n.1073_1074insT, XR_007061929.1:n.1023_1024insT, XM_047424401.1:c.257_258insT, NP_060761.3:p.Ile307fs, NP_001337721.1:p.Ile251fs, NP_001337722.1:p.Ile251fs, NP_001337719.1:p.Ile307fs, NP_001337720.1:p.Ile307fs, NP_001106882.1:p.Ile307fs, NP_001337723.1:p.Ile307fs, NP_001337726.1:p.Ile173fs, NP_001337728.1:p.Ile195fs, NP_001231643.1:p.Ile219fs, NP_001337725.1:p.Ile195fs, NP_001337724.1:p.Ile219fs, NP_001337727.1:p.Ile195fs, NP_001265153.1:p.Ile8fs, XP_011540038.1:p.Ile219fs, XP_016857159.1:p.Ile173fs, XP_016857132.1:p.Ile307fs, XP_016857151.1:p.Ile195fs, XP_016857153.1:p.Ile195fs, XP_016857158.1:p.Ile173fs, XP_016857166.1:p.Ile99fs, XP_016857168.1:p.Ile307fs, XP_016857167.1:p.Ile99fs, XP_024303997.1:p.Ile99fs, XP_024303944.1:p.Ile307fs, XP_011540032.1:p.Ile307fs, XP_011540033.1:p.Ile307fs, XP_016857135.1:p.Ile307fs, XP_016857134.1:p.Ile307fs, XP_016857138.1:p.Ile307fs, XP_016857141.1:p.Ile307fs, XP_016857144.1:p.Ile219fs, XP_016857160.1:p.Ile173fs, XP_047280356.1:p.Ile99fs, XP_047280337.1:p.Ile307fs, XP_047280350.1:p.Ile173fs, XP_047280354.1:p.Ile173fs, XP_047280338.1:p.Ile307fs, XP_047280339.1:p.Ile307fs, XP_047280340.1:p.Ile307fs, XP_047280343.1:p.Ile307fs, XP_047280336.1:p.Ile307fs, XP_047280342.1:p.Ile307fs, XP_047280344.1:p.Ile307fs, XP_047280345.1:p.Ile251fs, XP_047280341.1:p.Ile307fs, XP_047280352.1:p.Ile173fs, XP_047280351.1:p.Ile173fs, XP_047280353.1:p.Ile173fs, XP_047280347.1:p.Ile219fs, XP_047280349.1:p.Ile195fs, XP_047280348.1:p.Ile195fs, XP_016857157.1:p.Ile173fs, XP_047280346.1:p.Ile219fs, XP_047280355.1:p.Ile99fs, XP_047280357.1:p.Ile88fs

      3.

      rs1488420997 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:59757946 (GRCh38)
        1:60223618 (GRCh37)
        Canonical SPDI:
        NC_000001.11:59757945:A:G
        Gene:
        FGGY (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.59757946A>G, NC_000001.10:g.60223618A>G, NG_030039.1:g.465994A>G, NM_018291.5:c.1528A>G, NM_018291.4:c.1528A>G, NM_018291.3:c.1528A>G, NM_001350792.2:c.1360A>G, NM_001350792.1:c.1360A>G, NM_001350793.2:c.1360A>G, NM_001350793.1:c.1360A>G, NM_001350790.2:c.1600A>G, NM_001350790.1:c.1600A>G, NM_001350791.2:c.1528A>G, NM_001350791.1:c.1528A>G, NM_001113411.2:c.1600A>G, NM_001113411.1:c.1600A>G, NM_001350794.2:c.1433A>G, NM_001350794.1:c.1433A>G, NM_001350797.2:c.1126A>G, NM_001350797.1:c.1126A>G, NM_001350799.2:c.1097A>G, NM_001350799.1:c.1097A>G, NM_001244714.2:c.1264A>G, NM_001244714.1:c.1264A>G, NM_001350796.2:c.1192A>G, NM_001350796.1:c.1192A>G, NM_001350795.2:c.1336A>G, NM_001350795.1:c.1336A>G, NM_001350798.2:c.1169A>G, NM_001350798.1:c.1169A>G, NM_001278224.2:c.631A>G, NM_001278224.1:c.631A>G, XM_011541736.4:c.1336A>G, XM_011541736.3:c.1336A>G, XM_011541736.2:c.1336A>G, XM_011541736.1:c.1336A>G, XM_017001670.3:c.1198A>G, XM_017001670.2:c.1198A>G, XM_017001670.1:c.1198A>G, XM_017001643.3:c.1600A>G, XM_017001643.2:c.1600A>G, XM_017001643.1:c.1600A>G, XM_017001662.3:c.1264A>G, XM_017001662.2:c.1264A>G, XM_017001662.1:c.1264A>G, XM_017001664.3:c.1264A>G, XM_017001664.2:c.1264A>G, XM_017001664.1:c.1264A>G, XM_017001669.3:c.1198A>G, XM_017001669.2:c.1198A>G, XM_017001669.1:c.1198A>G, XM_017001677.2:c.976A>G, XM_017001677.1:c.976A>G, XM_017001678.2:c.976A>G, XM_017001678.1:c.976A>G, XM_024448229.2:c.904A>G, XM_024448229.1:c.904A>G, XM_024448176.2:c.1600A>G, XM_024448176.1:c.1600A>G, XM_011541730.2:c.1600A>G, XM_011541730.1:c.1600A>G, XM_011541731.2:c.1600A>G, XM_011541731.1:c.1600A>G, XM_017001646.2:c.1528A>G, XM_017001646.1:c.1528A>G, XM_017001645.2:c.1528A>G, XM_017001645.1:c.1528A>G, XM_017001649.2:c.1505A>G, XM_017001649.1:c.1505A>G, XM_017001652.2:c.1433A>G, XM_017001652.1:c.1433A>G, XM_017001655.2:c.1336A>G, XM_017001655.1:c.1336A>G, XM_017001671.2:c.1198A>G, XM_017001671.1:c.1198A>G, XM_047424400.1:c.976A>G, XM_047424381.1:c.1600A>G, XM_047424394.1:c.1198A>G, XM_047424398.1:c.1126A>G, XM_047424382.1:c.1600A>G, XM_047424383.1:c.1600A>G, XM_047424384.1:c.1600A>G, XM_047424387.1:c.1528A>G, XM_047424380.1:c.1600A>G, XM_047424386.1:c.1528A>G, XM_047424388.1:c.1528A>G, XM_047424389.1:c.1432A>G, XM_047424385.1:c.1600A>G, XM_047424396.1:c.1198A>G, XM_047424395.1:c.1198A>G, XM_047424397.1:c.1198A>G, XM_047424391.1:c.1264A>G, XM_047424393.1:c.1264A>G, XM_047424392.1:c.1264A>G, XM_017001668.1:c.1198A>G, XM_047424390.1:c.1264A>G, XM_047424399.1:c.976A>G, XM_047424401.1:c.943A>G, NP_060761.3:p.Met510Val, NP_001337721.1:p.Met454Val, NP_001337722.1:p.Met454Val, NP_001337719.1:p.Met534Val, NP_001337720.1:p.Met510Val, NP_001106882.1:p.Met534Val, NP_001337723.1:p.Asn478Ser, NP_001337726.1:p.Met376Val, NP_001337728.1:p.Asn366Ser, NP_001231643.1:p.Met422Val, NP_001337725.1:p.Met398Val, NP_001337724.1:p.Met446Val, NP_001337727.1:p.Asn390Ser, NP_001265153.1:p.Met211Val, XP_011540038.1:p.Met446Val, XP_016857159.1:p.Met400Val, XP_016857132.1:p.Met534Val, XP_016857151.1:p.Met422Val, XP_016857153.1:p.Met422Val, XP_016857158.1:p.Met400Val, XP_016857166.1:p.Met326Val, XP_016857167.1:p.Met326Val, XP_024303997.1:p.Met302Val, XP_024303944.1:p.Met534Val, XP_011540032.1:p.Met534Val, XP_011540033.1:p.Met534Val, XP_016857135.1:p.Met510Val, XP_016857134.1:p.Met510Val, XP_016857138.1:p.Asn502Ser, XP_016857141.1:p.Asn478Ser, XP_016857144.1:p.Met446Val, XP_016857160.1:p.Met400Val, XP_047280356.1:p.Met326Val, XP_047280337.1:p.Met534Val, XP_047280350.1:p.Met400Val, XP_047280354.1:p.Met376Val, XP_047280338.1:p.Met534Val, XP_047280339.1:p.Met534Val, XP_047280340.1:p.Met534Val, XP_047280343.1:p.Met510Val, XP_047280336.1:p.Met534Val, XP_047280342.1:p.Met510Val, XP_047280344.1:p.Met510Val, XP_047280345.1:p.Met478Val, XP_047280341.1:p.Met534Val, XP_047280352.1:p.Met400Val, XP_047280351.1:p.Met400Val, XP_047280353.1:p.Met400Val, XP_047280347.1:p.Met422Val, XP_047280349.1:p.Met422Val, XP_047280348.1:p.Met422Val, XP_016857157.1:p.Met400Val, XP_047280346.1:p.Met422Val, XP_047280355.1:p.Met326Val, XP_047280357.1:p.Met315Val

        4.

        rs1487405293 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:59512391 (GRCh38)
          1:59978063 (GRCh37)
          Canonical SPDI:
          NC_000001.11:59512390:G:T
          Gene:
          FGGY (Varview)
          Functional Consequence:
          non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.59512391G>T, NC_000001.10:g.59978063G>T, NG_030039.1:g.220439G>T, NM_018291.5:c.751G>T, NM_018291.4:c.751G>T, NM_018291.3:c.751G>T, NR_103473.2:n.839G>T, NR_103473.1:n.921G>T, NM_001350792.2:c.583G>T, NM_001350792.1:c.583G>T, NM_001350793.2:c.583G>T, NM_001350793.1:c.583G>T, NM_001350790.2:c.751G>T, NM_001350790.1:c.751G>T, NM_001350791.2:c.751G>T, NM_001350791.1:c.751G>T, NM_001113411.2:c.751G>T, NM_001113411.1:c.751G>T, NM_001350794.2:c.751G>T, NM_001350794.1:c.751G>T, NM_001350797.2:c.349G>T, NM_001350797.1:c.349G>T, NM_001350799.2:c.415G>T, NM_001350799.1:c.415G>T, NM_001244714.2:c.487G>T, NM_001244714.1:c.487G>T, NM_001350796.2:c.415G>T, NM_001350796.1:c.415G>T, NM_001350795.2:c.487G>T, NM_001350795.1:c.487G>T, NM_001350798.2:c.415G>T, NM_001350798.1:c.415G>T, XM_011541736.4:c.487G>T, XM_011541736.3:c.487G>T, XM_011541736.2:c.487G>T, XM_011541736.1:c.487G>T, XM_017001670.3:c.349G>T, XM_017001670.2:c.349G>T, XM_017001670.1:c.349G>T, XM_017001643.3:c.751G>T, XM_017001643.2:c.751G>T, XM_017001643.1:c.751G>T, XM_017001662.3:c.415G>T, XM_017001662.2:c.415G>T, XM_017001662.1:c.415G>T, XM_017001664.3:c.415G>T, XM_017001664.2:c.415G>T, XM_017001664.1:c.415G>T, XM_017001669.3:c.349G>T, XM_017001669.2:c.349G>T, XM_017001669.1:c.349G>T, XM_017001677.2:c.127G>T, XM_017001677.1:c.127G>T, XM_017001679.2:c.751G>T, XM_017001679.1:c.751G>T, XM_017001678.2:c.127G>T, XM_017001678.1:c.127G>T, XM_024448229.2:c.127G>T, XM_024448229.1:c.127G>T, XM_024448176.2:c.751G>T, XM_024448176.1:c.751G>T, XM_011541730.2:c.751G>T, XM_011541730.1:c.751G>T, XM_011541731.2:c.751G>T, XM_011541731.1:c.751G>T, XM_017001646.2:c.751G>T, XM_017001646.1:c.751G>T, XM_017001645.2:c.751G>T, XM_017001645.1:c.751G>T, XM_017001649.2:c.751G>T, XM_017001649.1:c.751G>T, XM_017001652.2:c.751G>T, XM_017001652.1:c.751G>T, XM_017001655.2:c.487G>T, XM_017001655.1:c.487G>T, XM_017001671.2:c.349G>T, XM_017001671.1:c.349G>T, XM_047424400.1:c.127G>T, XM_047424381.1:c.751G>T, XM_047424394.1:c.349G>T, XM_047424398.1:c.349G>T, XM_047424382.1:c.751G>T, XM_047424383.1:c.751G>T, XM_047424384.1:c.751G>T, XM_047424387.1:c.751G>T, XM_047424380.1:c.751G>T, XM_047424386.1:c.751G>T, XM_047424388.1:c.751G>T, XM_047424389.1:c.583G>T, XM_047424385.1:c.751G>T, XM_047424396.1:c.349G>T, XM_047424395.1:c.349G>T, XM_047424397.1:c.349G>T, XM_047424391.1:c.487G>T, XM_047424393.1:c.415G>T, XM_047424392.1:c.415G>T, XM_017001668.1:c.349G>T, XM_047424390.1:c.487G>T, XM_047424399.1:c.127G>T, XR_007061930.1:n.910G>T, XR_007061929.1:n.860G>T, XM_047424401.1:c.94G>T, NP_060761.3:p.Gly251Trp, NP_001337721.1:p.Gly195Trp, NP_001337722.1:p.Gly195Trp, NP_001337719.1:p.Gly251Trp, NP_001337720.1:p.Gly251Trp, NP_001106882.1:p.Gly251Trp, NP_001337723.1:p.Gly251Trp, NP_001337726.1:p.Gly117Trp, NP_001337728.1:p.Gly139Trp, NP_001231643.1:p.Gly163Trp, NP_001337725.1:p.Gly139Trp, NP_001337724.1:p.Gly163Trp, NP_001337727.1:p.Gly139Trp, XP_011540038.1:p.Gly163Trp, XP_016857159.1:p.Gly117Trp, XP_016857132.1:p.Gly251Trp, XP_016857151.1:p.Gly139Trp, XP_016857153.1:p.Gly139Trp, XP_016857158.1:p.Gly117Trp, XP_016857166.1:p.Gly43Trp, XP_016857168.1:p.Gly251Trp, XP_016857167.1:p.Gly43Trp, XP_024303997.1:p.Gly43Trp, XP_024303944.1:p.Gly251Trp, XP_011540032.1:p.Gly251Trp, XP_011540033.1:p.Gly251Trp, XP_016857135.1:p.Gly251Trp, XP_016857134.1:p.Gly251Trp, XP_016857138.1:p.Gly251Trp, XP_016857141.1:p.Gly251Trp, XP_016857144.1:p.Gly163Trp, XP_016857160.1:p.Gly117Trp, XP_047280356.1:p.Gly43Trp, XP_047280337.1:p.Gly251Trp, XP_047280350.1:p.Gly117Trp, XP_047280354.1:p.Gly117Trp, XP_047280338.1:p.Gly251Trp, XP_047280339.1:p.Gly251Trp, XP_047280340.1:p.Gly251Trp, XP_047280343.1:p.Gly251Trp, XP_047280336.1:p.Gly251Trp, XP_047280342.1:p.Gly251Trp, XP_047280344.1:p.Gly251Trp, XP_047280345.1:p.Gly195Trp, XP_047280341.1:p.Gly251Trp, XP_047280352.1:p.Gly117Trp, XP_047280351.1:p.Gly117Trp, XP_047280353.1:p.Gly117Trp, XP_047280347.1:p.Gly163Trp, XP_047280349.1:p.Gly139Trp, XP_047280348.1:p.Gly139Trp, XP_016857157.1:p.Gly117Trp, XP_047280346.1:p.Gly163Trp, XP_047280355.1:p.Gly43Trp, XP_047280357.1:p.Gly32Trp

          5.

          rs1480864597 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:59660235 (GRCh38)
            1:60125907 (GRCh37)
            Canonical SPDI:
            NC_000001.11:59660234:T:C
            Gene:
            FGGY (Varview)
            Functional Consequence:
            non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.59660235T>C, NC_000001.10:g.60125907T>C, NG_030039.1:g.368283T>C, NM_018291.5:c.1238T>C, NM_018291.4:c.1238T>C, NM_018291.3:c.1238T>C, NR_103473.2:n.1326T>C, NR_103473.1:n.1408T>C, NM_001350792.2:c.1070T>C, NM_001350792.1:c.1070T>C, NM_001350793.2:c.1070T>C, NM_001350793.1:c.1070T>C, NM_001350790.2:c.1310T>C, NM_001350790.1:c.1310T>C, NM_001350791.2:c.1238T>C, NM_001350791.1:c.1238T>C, NM_001113411.2:c.1310T>C, NM_001113411.1:c.1310T>C, NM_001350794.2:c.1238T>C, NM_001350794.1:c.1238T>C, NM_001350797.2:c.836T>C, NM_001350797.1:c.836T>C, NM_001350799.2:c.902T>C, NM_001350799.1:c.902T>C, NM_001244714.2:c.974T>C, NM_001244714.1:c.974T>C, NM_001350796.2:c.902T>C, NM_001350796.1:c.902T>C, NM_001350795.2:c.1046T>C, NM_001350795.1:c.1046T>C, NM_001350798.2:c.974T>C, NM_001350798.1:c.974T>C, NM_001278224.2:c.341T>C, NM_001278224.1:c.341T>C, XM_011541736.4:c.1046T>C, XM_011541736.3:c.1046T>C, XM_011541736.2:c.1046T>C, XM_011541736.1:c.1046T>C, XM_017001670.3:c.908T>C, XM_017001670.2:c.908T>C, XM_017001670.1:c.908T>C, XM_017001643.3:c.1310T>C, XM_017001643.2:c.1310T>C, XM_017001643.1:c.1310T>C, XM_017001662.3:c.974T>C, XM_017001662.2:c.974T>C, XM_017001662.1:c.974T>C, XM_017001664.3:c.974T>C, XM_017001664.2:c.974T>C, XM_017001664.1:c.974T>C, XM_017001669.3:c.908T>C, XM_017001669.2:c.908T>C, XM_017001669.1:c.908T>C, XM_017001677.2:c.686T>C, XM_017001677.1:c.686T>C, XM_017001679.2:c.*4T>C, XM_017001679.1:c.*4T>C, XM_017001678.2:c.686T>C, XM_017001678.1:c.686T>C, XM_024448229.2:c.614T>C, XM_024448229.1:c.614T>C, XM_024448176.2:c.1310T>C, XM_024448176.1:c.1310T>C, XM_011541730.2:c.1310T>C, XM_011541730.1:c.1310T>C, XM_011541731.2:c.1310T>C, XM_011541731.1:c.1310T>C, XM_017001646.2:c.1238T>C, XM_017001646.1:c.1238T>C, XM_017001645.2:c.1238T>C, XM_017001645.1:c.1238T>C, XM_017001649.2:c.1310T>C, XM_017001649.1:c.1310T>C, XM_017001652.2:c.1238T>C, XM_017001652.1:c.1238T>C, XM_017001655.2:c.1046T>C, XM_017001655.1:c.1046T>C, XM_017001671.2:c.908T>C, XM_017001671.1:c.908T>C, XM_047424400.1:c.686T>C, XM_047424381.1:c.1310T>C, XM_047424394.1:c.908T>C, XM_047424398.1:c.836T>C, XM_047424382.1:c.1310T>C, XM_047424383.1:c.1310T>C, XM_047424384.1:c.1310T>C, XM_047424387.1:c.1238T>C, XM_047424380.1:c.1310T>C, XM_047424386.1:c.1238T>C, XM_047424388.1:c.1238T>C, XM_047424389.1:c.1142T>C, XM_047424385.1:c.1310T>C, XM_047424396.1:c.908T>C, XM_047424395.1:c.908T>C, XM_047424397.1:c.908T>C, XM_047424391.1:c.974T>C, XM_047424393.1:c.974T>C, XM_047424392.1:c.974T>C, XM_017001668.1:c.908T>C, XM_047424390.1:c.974T>C, XM_047424399.1:c.686T>C, XR_007061930.1:n.1249T>C, XR_007061929.1:n.1199T>C, XM_047424401.1:c.653T>C, NP_060761.3:p.Leu413Pro, NP_001337721.1:p.Leu357Pro, NP_001337722.1:p.Leu357Pro, NP_001337719.1:p.Leu437Pro, NP_001337720.1:p.Leu413Pro, NP_001106882.1:p.Leu437Pro, NP_001337723.1:p.Leu413Pro, NP_001337726.1:p.Leu279Pro, NP_001337728.1:p.Leu301Pro, NP_001231643.1:p.Leu325Pro, NP_001337725.1:p.Leu301Pro, NP_001337724.1:p.Leu349Pro, NP_001337727.1:p.Leu325Pro, NP_001265153.1:p.Leu114Pro, XP_011540038.1:p.Leu349Pro, XP_016857159.1:p.Leu303Pro, XP_016857132.1:p.Leu437Pro, XP_016857151.1:p.Leu325Pro, XP_016857153.1:p.Leu325Pro, XP_016857158.1:p.Leu303Pro, XP_016857166.1:p.Leu229Pro, XP_016857167.1:p.Leu229Pro, XP_024303997.1:p.Leu205Pro, XP_024303944.1:p.Leu437Pro, XP_011540032.1:p.Leu437Pro, XP_011540033.1:p.Leu437Pro, XP_016857135.1:p.Leu413Pro, XP_016857134.1:p.Leu413Pro, XP_016857138.1:p.Leu437Pro, XP_016857141.1:p.Leu413Pro, XP_016857144.1:p.Leu349Pro, XP_016857160.1:p.Leu303Pro, XP_047280356.1:p.Leu229Pro, XP_047280337.1:p.Leu437Pro, XP_047280350.1:p.Leu303Pro, XP_047280354.1:p.Leu279Pro, XP_047280338.1:p.Leu437Pro, XP_047280339.1:p.Leu437Pro, XP_047280340.1:p.Leu437Pro, XP_047280343.1:p.Leu413Pro, XP_047280336.1:p.Leu437Pro, XP_047280342.1:p.Leu413Pro, XP_047280344.1:p.Leu413Pro, XP_047280345.1:p.Leu381Pro, XP_047280341.1:p.Leu437Pro, XP_047280352.1:p.Leu303Pro, XP_047280351.1:p.Leu303Pro, XP_047280353.1:p.Leu303Pro, XP_047280347.1:p.Leu325Pro, XP_047280349.1:p.Leu325Pro, XP_047280348.1:p.Leu325Pro, XP_016857157.1:p.Leu303Pro, XP_047280346.1:p.Leu325Pro, XP_047280355.1:p.Leu229Pro, XP_047280357.1:p.Leu218Pro

            6.

            rs1478403158 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              1:59638276 (GRCh38)
              1:60103949 (GRCh37)
              Canonical SPDI:
              NC_000001.11:59638276:AA:AAA
              Gene:
              FGGY (Varview)
              Functional Consequence:
              non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAA=0./0 (ALFA)
              A=0.000011/3 (TOPMED)
              A=0.000014/2 (GnomAD)
              HGVS:
              NC_000001.11:g.59638278dup, NC_000001.10:g.60103950dup, NG_030039.1:g.346326dup, NM_018291.5:c.1124dup, NM_018291.4:c.1124dup, NM_018291.3:c.1124dup, NR_103473.2:n.1212dup, NR_103473.1:n.1294dup, NM_001350792.2:c.956dup, NM_001350792.1:c.956dup, NM_001350793.2:c.956dup, NM_001350793.1:c.956dup, NM_001350790.2:c.1124dup, NM_001350790.1:c.1124dup, NM_001350791.2:c.1124dup, NM_001350791.1:c.1124dup, NM_001113411.2:c.1124dup, NM_001113411.1:c.1124dup, NM_001350794.2:c.1124dup, NM_001350794.1:c.1124dup, NM_001350797.2:c.722dup, NM_001350797.1:c.722dup, NM_001350799.2:c.788dup, NM_001350799.1:c.788dup, NM_001244714.2:c.860dup, NM_001244714.1:c.860dup, NM_001350796.2:c.788dup, NM_001350796.1:c.788dup, NM_001350795.2:c.860dup, NM_001350795.1:c.860dup, NM_001350798.2:c.788dup, NM_001350798.1:c.788dup, NM_001278224.2:c.227dup, NM_001278224.1:c.227dup, XM_011541736.4:c.860dup, XM_011541736.3:c.860dup, XM_011541736.2:c.860dup, XM_011541736.1:c.860dup, XM_017001670.3:c.722dup, XM_017001670.2:c.722dup, XM_017001670.1:c.722dup, XM_017001643.3:c.1124dup, XM_017001643.2:c.1124dup, XM_017001643.1:c.1124dup, XM_017001662.3:c.788dup, XM_017001662.2:c.788dup, XM_017001662.1:c.788dup, XM_017001664.3:c.788dup, XM_017001664.2:c.788dup, XM_017001664.1:c.788dup, XM_017001669.3:c.722dup, XM_017001669.2:c.722dup, XM_017001669.1:c.722dup, XM_017001677.2:c.500dup, XM_017001677.1:c.500dup, XM_017001678.2:c.500dup, XM_017001678.1:c.500dup, XM_024448229.2:c.500dup, XM_024448229.1:c.500dup, XM_024448176.2:c.1124dup, XM_024448176.1:c.1124dup, XM_011541730.2:c.1124dup, XM_011541730.1:c.1124dup, XM_011541731.2:c.1124dup, XM_011541731.1:c.1124dup, XM_017001646.2:c.1124dup, XM_017001646.1:c.1124dup, XM_017001645.2:c.1124dup, XM_017001645.1:c.1124dup, XM_017001649.2:c.1124dup, XM_017001649.1:c.1124dup, XM_017001652.2:c.1124dup, XM_017001652.1:c.1124dup, XM_017001655.2:c.860dup, XM_017001655.1:c.860dup, XM_017001671.2:c.722dup, XM_017001671.1:c.722dup, XM_047424400.1:c.500dup, XM_047424381.1:c.1124dup, XM_047424394.1:c.722dup, XM_047424398.1:c.722dup, XM_047424382.1:c.1124dup, XM_047424383.1:c.1124dup, XM_047424384.1:c.1124dup, XM_047424387.1:c.1124dup, XM_047424380.1:c.1124dup, XM_047424386.1:c.1124dup, XM_047424388.1:c.1124dup, XM_047424389.1:c.956dup, XM_047424385.1:c.1124dup, XM_047424396.1:c.722dup, XM_047424395.1:c.722dup, XM_047424397.1:c.722dup, XM_047424391.1:c.860dup, XM_047424393.1:c.788dup, XM_047424392.1:c.788dup, XM_017001668.1:c.722dup, XM_047424390.1:c.860dup, XM_047424399.1:c.500dup, XM_047424401.1:c.467dup, NP_060761.3:p.Ala376fs, NP_001337721.1:p.Ala320fs, NP_001337722.1:p.Ala320fs, NP_001337719.1:p.Ala376fs, NP_001337720.1:p.Ala376fs, NP_001106882.1:p.Ala376fs, NP_001337723.1:p.Ala376fs, NP_001337726.1:p.Ala242fs, NP_001337728.1:p.Ala264fs, NP_001231643.1:p.Ala288fs, NP_001337725.1:p.Ala264fs, NP_001337724.1:p.Ala288fs, NP_001337727.1:p.Ala264fs, NP_001265153.1:p.Ala77fs, XP_011540038.1:p.Ala288fs, XP_016857159.1:p.Ala242fs, XP_016857132.1:p.Ala376fs, XP_016857151.1:p.Ala264fs, XP_016857153.1:p.Ala264fs, XP_016857158.1:p.Ala242fs, XP_016857166.1:p.Ala168fs, XP_016857167.1:p.Ala168fs, XP_024303997.1:p.Ala168fs, XP_024303944.1:p.Ala376fs, XP_011540032.1:p.Ala376fs, XP_011540033.1:p.Ala376fs, XP_016857135.1:p.Ala376fs, XP_016857134.1:p.Ala376fs, XP_016857138.1:p.Ala376fs, XP_016857141.1:p.Ala376fs, XP_016857144.1:p.Ala288fs, XP_016857160.1:p.Ala242fs, XP_047280356.1:p.Ala168fs, XP_047280337.1:p.Ala376fs, XP_047280350.1:p.Ala242fs, XP_047280354.1:p.Ala242fs, XP_047280338.1:p.Ala376fs, XP_047280339.1:p.Ala376fs, XP_047280340.1:p.Ala376fs, XP_047280343.1:p.Ala376fs, XP_047280336.1:p.Ala376fs, XP_047280342.1:p.Ala376fs, XP_047280344.1:p.Ala376fs, XP_047280345.1:p.Ala320fs, XP_047280341.1:p.Ala376fs, XP_047280352.1:p.Ala242fs, XP_047280351.1:p.Ala242fs, XP_047280353.1:p.Ala242fs, XP_047280347.1:p.Ala288fs, XP_047280349.1:p.Ala264fs, XP_047280348.1:p.Ala264fs, XP_016857157.1:p.Ala242fs, XP_047280346.1:p.Ala288fs, XP_047280355.1:p.Ala168fs, XP_047280357.1:p.Ala157fs

              7.

              rs1476978682 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:59456981 (GRCh38)
                1:59922653 (GRCh37)
                Canonical SPDI:
                NC_000001.11:59456980:G:A
                Gene:
                FGGY (Varview)
                Functional Consequence:
                missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.59456981G>A, NC_000001.10:g.59922653G>A, NG_030039.1:g.165029G>A, NM_018291.5:c.575G>A, NM_018291.4:c.575G>A, NM_018291.3:c.575G>A, NR_103473.2:n.663G>A, NR_103473.1:n.745G>A, NM_001350792.2:c.407G>A, NM_001350792.1:c.407G>A, NM_001350793.2:c.407G>A, NM_001350793.1:c.407G>A, NM_001350790.2:c.575G>A, NM_001350790.1:c.575G>A, NM_001350791.2:c.575G>A, NM_001350791.1:c.575G>A, NM_001113411.2:c.575G>A, NM_001113411.1:c.575G>A, NM_001350794.2:c.575G>A, NM_001350794.1:c.575G>A, NM_001350797.2:c.173G>A, NM_001350797.1:c.173G>A, NM_001350799.2:c.239G>A, NM_001350799.1:c.239G>A, NM_001244714.2:c.311G>A, NM_001244714.1:c.311G>A, NM_001350796.2:c.239G>A, NM_001350796.1:c.239G>A, NM_001350795.2:c.311G>A, NM_001350795.1:c.311G>A, NM_001350798.2:c.239G>A, NM_001350798.1:c.239G>A, XM_011541736.4:c.311G>A, XM_011541736.3:c.311G>A, XM_011541736.2:c.311G>A, XM_011541736.1:c.311G>A, XM_017001670.3:c.173G>A, XM_017001670.2:c.173G>A, XM_017001670.1:c.173G>A, XM_017001643.3:c.575G>A, XM_017001643.2:c.575G>A, XM_017001643.1:c.575G>A, XM_017001662.3:c.239G>A, XM_017001662.2:c.239G>A, XM_017001662.1:c.239G>A, XM_017001664.3:c.239G>A, XM_017001664.2:c.239G>A, XM_017001664.1:c.239G>A, XM_017001669.3:c.173G>A, XM_017001669.2:c.173G>A, XM_017001669.1:c.173G>A, XM_017001677.2:c.-50G>A, XM_017001677.1:c.-50G>A, XM_017001679.2:c.575G>A, XM_017001679.1:c.575G>A, XM_017001678.2:c.-50G>A, XM_017001678.1:c.-50G>A, XM_024448229.2:c.-50G>A, XM_024448229.1:c.-50G>A, XM_024448176.2:c.575G>A, XM_024448176.1:c.575G>A, XM_011541730.2:c.575G>A, XM_011541730.1:c.575G>A, XM_011541731.2:c.575G>A, XM_011541731.1:c.575G>A, XM_017001646.2:c.575G>A, XM_017001646.1:c.575G>A, XM_017001645.2:c.575G>A, XM_017001645.1:c.575G>A, XM_017001649.2:c.575G>A, XM_017001649.1:c.575G>A, XM_017001652.2:c.575G>A, XM_017001652.1:c.575G>A, XM_017001655.2:c.311G>A, XM_017001655.1:c.311G>A, XM_017001671.2:c.173G>A, XM_017001671.1:c.173G>A, XM_047424400.1:c.-50G>A, XM_047424381.1:c.575G>A, XM_047424394.1:c.173G>A, XM_047424398.1:c.173G>A, XM_047424382.1:c.575G>A, XM_047424383.1:c.575G>A, XM_047424384.1:c.575G>A, XM_047424387.1:c.575G>A, XM_047424380.1:c.575G>A, XM_047424386.1:c.575G>A, XM_047424388.1:c.575G>A, XM_047424389.1:c.407G>A, XM_047424385.1:c.575G>A, XM_047424396.1:c.173G>A, XM_047424395.1:c.173G>A, XM_047424397.1:c.173G>A, XM_047424391.1:c.311G>A, XM_047424393.1:c.239G>A, XM_047424392.1:c.239G>A, XM_017001668.1:c.173G>A, XM_047424390.1:c.311G>A, XM_047424399.1:c.-50G>A, XR_007061930.1:n.734G>A, XR_007061929.1:n.684G>A, NP_060761.3:p.Cys192Tyr, NP_001337721.1:p.Cys136Tyr, NP_001337722.1:p.Cys136Tyr, NP_001337719.1:p.Cys192Tyr, NP_001337720.1:p.Cys192Tyr, NP_001106882.1:p.Cys192Tyr, NP_001337723.1:p.Cys192Tyr, NP_001337726.1:p.Cys58Tyr, NP_001337728.1:p.Cys80Tyr, NP_001231643.1:p.Cys104Tyr, NP_001337725.1:p.Cys80Tyr, NP_001337724.1:p.Cys104Tyr, NP_001337727.1:p.Cys80Tyr, XP_011540038.1:p.Cys104Tyr, XP_016857159.1:p.Cys58Tyr, XP_016857132.1:p.Cys192Tyr, XP_016857151.1:p.Cys80Tyr, XP_016857153.1:p.Cys80Tyr, XP_016857158.1:p.Cys58Tyr, XP_016857168.1:p.Cys192Tyr, XP_024303944.1:p.Cys192Tyr, XP_011540032.1:p.Cys192Tyr, XP_011540033.1:p.Cys192Tyr, XP_016857135.1:p.Cys192Tyr, XP_016857134.1:p.Cys192Tyr, XP_016857138.1:p.Cys192Tyr, XP_016857141.1:p.Cys192Tyr, XP_016857144.1:p.Cys104Tyr, XP_016857160.1:p.Cys58Tyr, XP_047280337.1:p.Cys192Tyr, XP_047280350.1:p.Cys58Tyr, XP_047280354.1:p.Cys58Tyr, XP_047280338.1:p.Cys192Tyr, XP_047280339.1:p.Cys192Tyr, XP_047280340.1:p.Cys192Tyr, XP_047280343.1:p.Cys192Tyr, XP_047280336.1:p.Cys192Tyr, XP_047280342.1:p.Cys192Tyr, XP_047280344.1:p.Cys192Tyr, XP_047280345.1:p.Cys136Tyr, XP_047280341.1:p.Cys192Tyr, XP_047280352.1:p.Cys58Tyr, XP_047280351.1:p.Cys58Tyr, XP_047280353.1:p.Cys58Tyr, XP_047280347.1:p.Cys104Tyr, XP_047280349.1:p.Cys80Tyr, XP_047280348.1:p.Cys80Tyr, XP_016857157.1:p.Cys58Tyr, XP_047280346.1:p.Cys104Tyr

                8.

                rs1471171477 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:59607865 (GRCh38)
                  1:60073537 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:59607864:T:C
                  Gene:
                  FGGY (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.59607865T>C, NC_000001.10:g.60073537T>C, NG_030039.1:g.315913T>C, NM_018291.5:c.966T>C, NM_018291.4:c.966T>C, NM_018291.3:c.966T>C, NR_103473.2:n.1054T>C, NR_103473.1:n.1136T>C, NM_001350792.2:c.798T>C, NM_001350792.1:c.798T>C, NM_001350793.2:c.798T>C, NM_001350793.1:c.798T>C, NM_001350790.2:c.966T>C, NM_001350790.1:c.966T>C, NM_001350791.2:c.966T>C, NM_001350791.1:c.966T>C, NM_001113411.2:c.966T>C, NM_001113411.1:c.966T>C, NM_001350794.2:c.966T>C, NM_001350794.1:c.966T>C, NM_001350797.2:c.564T>C, NM_001350797.1:c.564T>C, NM_001350799.2:c.630T>C, NM_001350799.1:c.630T>C, NM_001244714.2:c.702T>C, NM_001244714.1:c.702T>C, NM_001350796.2:c.630T>C, NM_001350796.1:c.630T>C, NM_001350795.2:c.702T>C, NM_001350795.1:c.702T>C, NM_001350798.2:c.630T>C, NM_001350798.1:c.630T>C, NM_001278224.2:c.69T>C, NM_001278224.1:c.69T>C, XM_011541736.4:c.702T>C, XM_011541736.3:c.702T>C, XM_011541736.2:c.702T>C, XM_011541736.1:c.702T>C, XM_017001670.3:c.564T>C, XM_017001670.2:c.564T>C, XM_017001670.1:c.564T>C, XM_017001643.3:c.966T>C, XM_017001643.2:c.966T>C, XM_017001643.1:c.966T>C, XM_017001662.3:c.630T>C, XM_017001662.2:c.630T>C, XM_017001662.1:c.630T>C, XM_017001664.3:c.630T>C, XM_017001664.2:c.630T>C, XM_017001664.1:c.630T>C, XM_017001669.3:c.564T>C, XM_017001669.2:c.564T>C, XM_017001669.1:c.564T>C, XM_017001677.2:c.342T>C, XM_017001677.1:c.342T>C, XM_017001679.2:c.966T>C, XM_017001679.1:c.966T>C, XM_017001678.2:c.342T>C, XM_017001678.1:c.342T>C, XM_024448229.2:c.342T>C, XM_024448229.1:c.342T>C, XM_024448176.2:c.966T>C, XM_024448176.1:c.966T>C, XM_011541730.2:c.966T>C, XM_011541730.1:c.966T>C, XM_011541731.2:c.966T>C, XM_011541731.1:c.966T>C, XM_017001646.2:c.966T>C, XM_017001646.1:c.966T>C, XM_017001645.2:c.966T>C, XM_017001645.1:c.966T>C, XM_017001649.2:c.966T>C, XM_017001649.1:c.966T>C, XM_017001652.2:c.966T>C, XM_017001652.1:c.966T>C, XM_017001655.2:c.702T>C, XM_017001655.1:c.702T>C, XM_017001671.2:c.564T>C, XM_017001671.1:c.564T>C, XM_047424400.1:c.342T>C, XM_047424381.1:c.966T>C, XM_047424394.1:c.564T>C, XM_047424398.1:c.564T>C, XM_047424382.1:c.966T>C, XM_047424383.1:c.966T>C, XM_047424384.1:c.966T>C, XM_047424387.1:c.966T>C, XM_047424380.1:c.966T>C, XM_047424386.1:c.966T>C, XM_047424388.1:c.966T>C, XM_047424389.1:c.798T>C, XM_047424385.1:c.966T>C, XM_047424396.1:c.564T>C, XM_047424395.1:c.564T>C, XM_047424397.1:c.564T>C, XM_047424391.1:c.702T>C, XM_047424393.1:c.630T>C, XM_047424392.1:c.630T>C, XM_017001668.1:c.564T>C, XM_047424390.1:c.702T>C, XM_047424399.1:c.342T>C, XR_007061930.1:n.1125T>C, XR_007061929.1:n.1075T>C, XM_047424401.1:c.309T>C

                  9.

                  rs1470487309 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:59457045 (GRCh38)
                    1:59922717 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:59457044:A:G
                    Gene:
                    FGGY (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000111/1 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.59457045A>G, NC_000001.10:g.59922717A>G, NG_030039.1:g.165093A>G, NM_018291.5:c.639A>G, NM_018291.4:c.639A>G, NM_018291.3:c.639A>G, NR_103473.2:n.727A>G, NR_103473.1:n.809A>G, NM_001350792.2:c.471A>G, NM_001350792.1:c.471A>G, NM_001350793.2:c.471A>G, NM_001350793.1:c.471A>G, NM_001350790.2:c.639A>G, NM_001350790.1:c.639A>G, NM_001350791.2:c.639A>G, NM_001350791.1:c.639A>G, NM_001113411.2:c.639A>G, NM_001113411.1:c.639A>G, NM_001350794.2:c.639A>G, NM_001350794.1:c.639A>G, NM_001350797.2:c.237A>G, NM_001350797.1:c.237A>G, NM_001350799.2:c.303A>G, NM_001350799.1:c.303A>G, NM_001244714.2:c.375A>G, NM_001244714.1:c.375A>G, NM_001350796.2:c.303A>G, NM_001350796.1:c.303A>G, NM_001350795.2:c.375A>G, NM_001350795.1:c.375A>G, NM_001350798.2:c.303A>G, NM_001350798.1:c.303A>G, XM_011541736.4:c.375A>G, XM_011541736.3:c.375A>G, XM_011541736.2:c.375A>G, XM_011541736.1:c.375A>G, XM_017001670.3:c.237A>G, XM_017001670.2:c.237A>G, XM_017001670.1:c.237A>G, XM_017001643.3:c.639A>G, XM_017001643.2:c.639A>G, XM_017001643.1:c.639A>G, XM_017001662.3:c.303A>G, XM_017001662.2:c.303A>G, XM_017001662.1:c.303A>G, XM_017001664.3:c.303A>G, XM_017001664.2:c.303A>G, XM_017001664.1:c.303A>G, XM_017001669.3:c.237A>G, XM_017001669.2:c.237A>G, XM_017001669.1:c.237A>G, XM_017001677.2:c.15A>G, XM_017001677.1:c.15A>G, XM_017001679.2:c.639A>G, XM_017001679.1:c.639A>G, XM_017001678.2:c.15A>G, XM_017001678.1:c.15A>G, XM_024448229.2:c.15A>G, XM_024448229.1:c.15A>G, XM_024448176.2:c.639A>G, XM_024448176.1:c.639A>G, XM_011541730.2:c.639A>G, XM_011541730.1:c.639A>G, XM_011541731.2:c.639A>G, XM_011541731.1:c.639A>G, XM_017001646.2:c.639A>G, XM_017001646.1:c.639A>G, XM_017001645.2:c.639A>G, XM_017001645.1:c.639A>G, XM_017001649.2:c.639A>G, XM_017001649.1:c.639A>G, XM_017001652.2:c.639A>G, XM_017001652.1:c.639A>G, XM_017001655.2:c.375A>G, XM_017001655.1:c.375A>G, XM_017001671.2:c.237A>G, XM_017001671.1:c.237A>G, XM_047424400.1:c.15A>G, XM_047424381.1:c.639A>G, XM_047424394.1:c.237A>G, XM_047424398.1:c.237A>G, XM_047424382.1:c.639A>G, XM_047424383.1:c.639A>G, XM_047424384.1:c.639A>G, XM_047424387.1:c.639A>G, XM_047424380.1:c.639A>G, XM_047424386.1:c.639A>G, XM_047424388.1:c.639A>G, XM_047424389.1:c.471A>G, XM_047424385.1:c.639A>G, XM_047424396.1:c.237A>G, XM_047424395.1:c.237A>G, XM_047424397.1:c.237A>G, XM_047424391.1:c.375A>G, XM_047424393.1:c.303A>G, XM_047424392.1:c.303A>G, XM_017001668.1:c.237A>G, XM_047424390.1:c.375A>G, XM_047424399.1:c.15A>G, XR_007061930.1:n.798A>G, XR_007061929.1:n.748A>G

                    10.

                    rs1469809112 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      1:59638291 (GRCh38)
                      1:60103963 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:59638290:G:A
                      Gene:
                      FGGY (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      A=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.59638291G>A, NC_000001.10:g.60103963G>A, NG_030039.1:g.346339G>A, NM_018291.5:c.1137G>A, NM_018291.4:c.1137G>A, NM_018291.3:c.1137G>A, NR_103473.2:n.1225G>A, NR_103473.1:n.1307G>A, NM_001350792.2:c.969G>A, NM_001350792.1:c.969G>A, NM_001350793.2:c.969G>A, NM_001350793.1:c.969G>A, NM_001350790.2:c.1137G>A, NM_001350790.1:c.1137G>A, NM_001350791.2:c.1137G>A, NM_001350791.1:c.1137G>A, NM_001113411.2:c.1137G>A, NM_001113411.1:c.1137G>A, NM_001350794.2:c.1137G>A, NM_001350794.1:c.1137G>A, NM_001350797.2:c.735G>A, NM_001350797.1:c.735G>A, NM_001350799.2:c.801G>A, NM_001350799.1:c.801G>A, NM_001244714.2:c.873G>A, NM_001244714.1:c.873G>A, NM_001350796.2:c.801G>A, NM_001350796.1:c.801G>A, NM_001350795.2:c.873G>A, NM_001350795.1:c.873G>A, NM_001350798.2:c.801G>A, NM_001350798.1:c.801G>A, NM_001278224.2:c.240G>A, NM_001278224.1:c.240G>A, XM_011541736.4:c.873G>A, XM_011541736.3:c.873G>A, XM_011541736.2:c.873G>A, XM_011541736.1:c.873G>A, XM_017001670.3:c.735G>A, XM_017001670.2:c.735G>A, XM_017001670.1:c.735G>A, XM_017001643.3:c.1137G>A, XM_017001643.2:c.1137G>A, XM_017001643.1:c.1137G>A, XM_017001662.3:c.801G>A, XM_017001662.2:c.801G>A, XM_017001662.1:c.801G>A, XM_017001664.3:c.801G>A, XM_017001664.2:c.801G>A, XM_017001664.1:c.801G>A, XM_017001669.3:c.735G>A, XM_017001669.2:c.735G>A, XM_017001669.1:c.735G>A, XM_017001677.2:c.513G>A, XM_017001677.1:c.513G>A, XM_017001678.2:c.513G>A, XM_017001678.1:c.513G>A, XM_024448229.2:c.513G>A, XM_024448229.1:c.513G>A, XM_024448176.2:c.1137G>A, XM_024448176.1:c.1137G>A, XM_011541730.2:c.1137G>A, XM_011541730.1:c.1137G>A, XM_011541731.2:c.1137G>A, XM_011541731.1:c.1137G>A, XM_017001646.2:c.1137G>A, XM_017001646.1:c.1137G>A, XM_017001645.2:c.1137G>A, XM_017001645.1:c.1137G>A, XM_017001649.2:c.1137G>A, XM_017001649.1:c.1137G>A, XM_017001652.2:c.1137G>A, XM_017001652.1:c.1137G>A, XM_017001655.2:c.873G>A, XM_017001655.1:c.873G>A, XM_017001671.2:c.735G>A, XM_017001671.1:c.735G>A, XM_047424400.1:c.513G>A, XM_047424381.1:c.1137G>A, XM_047424394.1:c.735G>A, XM_047424398.1:c.735G>A, XM_047424382.1:c.1137G>A, XM_047424383.1:c.1137G>A, XM_047424384.1:c.1137G>A, XM_047424387.1:c.1137G>A, XM_047424380.1:c.1137G>A, XM_047424386.1:c.1137G>A, XM_047424388.1:c.1137G>A, XM_047424389.1:c.969G>A, XM_047424385.1:c.1137G>A, XM_047424396.1:c.735G>A, XM_047424395.1:c.735G>A, XM_047424397.1:c.735G>A, XM_047424391.1:c.873G>A, XM_047424393.1:c.801G>A, XM_047424392.1:c.801G>A, XM_017001668.1:c.735G>A, XM_047424390.1:c.873G>A, XM_047424399.1:c.513G>A, XM_047424401.1:c.480G>A

                      11.

                      rs1466882098 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        1:59667325 (GRCh38)
                        1:60132997 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:59667324:C:T
                        Gene:
                        FGGY (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000001.11:g.59667325C>T, NC_000001.10:g.60132997C>T, NG_030039.1:g.375373C>T, NM_018291.5:c.1339C>T, NM_018291.4:c.1339C>T, NM_018291.3:c.1339C>T, NR_103473.2:n.1427C>T, NR_103473.1:n.1509C>T, NM_001350792.2:c.1171C>T, NM_001350792.1:c.1171C>T, NM_001350793.2:c.1171C>T, NM_001350793.1:c.1171C>T, NM_001350790.2:c.1411C>T, NM_001350790.1:c.1411C>T, NM_001350791.2:c.1339C>T, NM_001350791.1:c.1339C>T, NM_001113411.2:c.1411C>T, NM_001113411.1:c.1411C>T, NM_001350794.2:c.1339C>T, NM_001350794.1:c.1339C>T, NM_001350797.2:c.937C>T, NM_001350797.1:c.937C>T, NM_001350799.2:c.1003C>T, NM_001350799.1:c.1003C>T, NM_001244714.2:c.1075C>T, NM_001244714.1:c.1075C>T, NM_001350796.2:c.1003C>T, NM_001350796.1:c.1003C>T, NM_001350795.2:c.1147C>T, NM_001350795.1:c.1147C>T, NM_001350798.2:c.1075C>T, NM_001350798.1:c.1075C>T, NM_001278224.2:c.442C>T, NM_001278224.1:c.442C>T, XM_011541736.4:c.1147C>T, XM_011541736.3:c.1147C>T, XM_011541736.2:c.1147C>T, XM_011541736.1:c.1147C>T, XM_017001670.3:c.1009C>T, XM_017001670.2:c.1009C>T, XM_017001670.1:c.1009C>T, XM_017001643.3:c.1411C>T, XM_017001643.2:c.1411C>T, XM_017001643.1:c.1411C>T, XM_017001662.3:c.1075C>T, XM_017001662.2:c.1075C>T, XM_017001662.1:c.1075C>T, XM_017001664.3:c.1075C>T, XM_017001664.2:c.1075C>T, XM_017001664.1:c.1075C>T, XM_017001669.3:c.1009C>T, XM_017001669.2:c.1009C>T, XM_017001669.1:c.1009C>T, XM_017001677.2:c.787C>T, XM_017001677.1:c.787C>T, XM_017001678.2:c.787C>T, XM_017001678.1:c.787C>T, XM_024448229.2:c.715C>T, XM_024448229.1:c.715C>T, XM_024448176.2:c.1411C>T, XM_024448176.1:c.1411C>T, XM_011541730.2:c.1411C>T, XM_011541730.1:c.1411C>T, XM_011541731.2:c.1411C>T, XM_011541731.1:c.1411C>T, XM_017001646.2:c.1339C>T, XM_017001646.1:c.1339C>T, XM_017001645.2:c.1339C>T, XM_017001645.1:c.1339C>T, XM_017001649.2:c.1411C>T, XM_017001649.1:c.1411C>T, XM_017001652.2:c.1339C>T, XM_017001652.1:c.1339C>T, XM_017001655.2:c.1147C>T, XM_017001655.1:c.1147C>T, XM_017001671.2:c.1009C>T, XM_017001671.1:c.1009C>T, XM_047424400.1:c.787C>T, XM_047424381.1:c.1411C>T, XM_047424394.1:c.1009C>T, XM_047424398.1:c.937C>T, XM_047424382.1:c.1411C>T, XM_047424383.1:c.1411C>T, XM_047424384.1:c.1411C>T, XM_047424387.1:c.1339C>T, XM_047424380.1:c.1411C>T, XM_047424386.1:c.1339C>T, XM_047424388.1:c.1339C>T, XM_047424389.1:c.1243C>T, XM_047424385.1:c.1411C>T, XM_047424396.1:c.1009C>T, XM_047424395.1:c.1009C>T, XM_047424397.1:c.1009C>T, XM_047424391.1:c.1075C>T, XM_047424393.1:c.1075C>T, XM_047424392.1:c.1075C>T, XM_017001668.1:c.1009C>T, XM_047424390.1:c.1075C>T, XM_047424399.1:c.787C>T, XR_007061930.1:n.1350C>T, XR_007061929.1:n.1300C>T, XM_047424401.1:c.754C>T, NP_060761.3:p.His447Tyr, NP_001337721.1:p.His391Tyr, NP_001337722.1:p.His391Tyr, NP_001337719.1:p.His471Tyr, NP_001337720.1:p.His447Tyr, NP_001106882.1:p.His471Tyr, NP_001337723.1:p.His447Tyr, NP_001337726.1:p.His313Tyr, NP_001337728.1:p.His335Tyr, NP_001231643.1:p.His359Tyr, NP_001337725.1:p.His335Tyr, NP_001337724.1:p.His383Tyr, NP_001337727.1:p.His359Tyr, NP_001265153.1:p.His148Tyr, XP_011540038.1:p.His383Tyr, XP_016857159.1:p.His337Tyr, XP_016857132.1:p.His471Tyr, XP_016857151.1:p.His359Tyr, XP_016857153.1:p.His359Tyr, XP_016857158.1:p.His337Tyr, XP_016857166.1:p.His263Tyr, XP_016857167.1:p.His263Tyr, XP_024303997.1:p.His239Tyr, XP_024303944.1:p.His471Tyr, XP_011540032.1:p.His471Tyr, XP_011540033.1:p.His471Tyr, XP_016857135.1:p.His447Tyr, XP_016857134.1:p.His447Tyr, XP_016857138.1:p.His471Tyr, XP_016857141.1:p.His447Tyr, XP_016857144.1:p.His383Tyr, XP_016857160.1:p.His337Tyr, XP_047280356.1:p.His263Tyr, XP_047280337.1:p.His471Tyr, XP_047280350.1:p.His337Tyr, XP_047280354.1:p.His313Tyr, XP_047280338.1:p.His471Tyr, XP_047280339.1:p.His471Tyr, XP_047280340.1:p.His471Tyr, XP_047280343.1:p.His447Tyr, XP_047280336.1:p.His471Tyr, XP_047280342.1:p.His447Tyr, XP_047280344.1:p.His447Tyr, XP_047280345.1:p.His415Tyr, XP_047280341.1:p.His471Tyr, XP_047280352.1:p.His337Tyr, XP_047280351.1:p.His337Tyr, XP_047280353.1:p.His337Tyr, XP_047280347.1:p.His359Tyr, XP_047280349.1:p.His359Tyr, XP_047280348.1:p.His359Tyr, XP_016857157.1:p.His337Tyr, XP_047280346.1:p.His359Tyr, XP_047280355.1:p.His263Tyr, XP_047280357.1:p.His252Tyr

                        12.

                        rs1464510264 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:59378770 (GRCh38)
                          1:59844442 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:59378769:G:A
                          Gene:
                          FGGY (Varview)
                          Functional Consequence:
                          missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          HGVS:
                          NC_000001.11:g.59378770G>A, NC_000001.10:g.59844442G>A, NG_030039.1:g.86818G>A, NM_018291.5:c.487G>A, NM_018291.4:c.487G>A, NM_018291.3:c.487G>A, NR_103473.2:n.575G>A, NR_103473.1:n.657G>A, NM_001350792.2:c.319G>A, NM_001350792.1:c.319G>A, NM_001350793.2:c.319G>A, NM_001350793.1:c.319G>A, NM_001350790.2:c.487G>A, NM_001350790.1:c.487G>A, NM_001350791.2:c.487G>A, NM_001350791.1:c.487G>A, NM_001113411.2:c.487G>A, NM_001113411.1:c.487G>A, NM_001350794.2:c.487G>A, NM_001350794.1:c.487G>A, NM_001350797.2:c.85G>A, NM_001350797.1:c.85G>A, NM_001350799.2:c.151G>A, NM_001350799.1:c.151G>A, NM_001244714.2:c.223G>A, NM_001244714.1:c.223G>A, NM_001350796.2:c.151G>A, NM_001350796.1:c.151G>A, NM_001350795.2:c.223G>A, NM_001350795.1:c.223G>A, NM_001350798.2:c.151G>A, NM_001350798.1:c.151G>A, XM_011541736.4:c.223G>A, XM_011541736.3:c.223G>A, XM_011541736.2:c.223G>A, XM_011541736.1:c.223G>A, XM_017001670.3:c.85G>A, XM_017001670.2:c.85G>A, XM_017001670.1:c.85G>A, XM_017001643.3:c.487G>A, XM_017001643.2:c.487G>A, XM_017001643.1:c.487G>A, XM_017001662.3:c.151G>A, XM_017001662.2:c.151G>A, XM_017001662.1:c.151G>A, XM_017001664.3:c.151G>A, XM_017001664.2:c.151G>A, XM_017001664.1:c.151G>A, XM_017001669.3:c.85G>A, XM_017001669.2:c.85G>A, XM_017001669.1:c.85G>A, XM_017001679.2:c.487G>A, XM_017001679.1:c.487G>A, XM_024448176.2:c.487G>A, XM_024448176.1:c.487G>A, XM_011541730.2:c.487G>A, XM_011541730.1:c.487G>A, XM_011541731.2:c.487G>A, XM_011541731.1:c.487G>A, XM_017001646.2:c.487G>A, XM_017001646.1:c.487G>A, XM_017001645.2:c.487G>A, XM_017001645.1:c.487G>A, XM_017001649.2:c.487G>A, XM_017001649.1:c.487G>A, XM_017001652.2:c.487G>A, XM_017001652.1:c.487G>A, XM_017001655.2:c.223G>A, XM_017001655.1:c.223G>A, XM_017001671.2:c.85G>A, XM_017001671.1:c.85G>A, XM_047424381.1:c.487G>A, XM_047424394.1:c.85G>A, XM_047424398.1:c.85G>A, XM_047424382.1:c.487G>A, XM_047424383.1:c.487G>A, XM_047424384.1:c.487G>A, XM_047424387.1:c.487G>A, XM_047424380.1:c.487G>A, XM_047424386.1:c.487G>A, XM_047424388.1:c.487G>A, XM_047424389.1:c.319G>A, XM_047424385.1:c.487G>A, XM_047424396.1:c.85G>A, XM_047424395.1:c.85G>A, XM_047424397.1:c.85G>A, XM_047424391.1:c.223G>A, XM_047424393.1:c.151G>A, XM_047424392.1:c.151G>A, XM_017001668.1:c.85G>A, XM_047424390.1:c.223G>A, XM_047424399.1:c.-138G>A, XR_007061930.1:n.646G>A, XR_007061929.1:n.596G>A, NP_060761.3:p.Asp163Asn, NP_001337721.1:p.Asp107Asn, NP_001337722.1:p.Asp107Asn, NP_001337719.1:p.Asp163Asn, NP_001337720.1:p.Asp163Asn, NP_001106882.1:p.Asp163Asn, NP_001337723.1:p.Asp163Asn, NP_001337726.1:p.Asp29Asn, NP_001337728.1:p.Asp51Asn, NP_001231643.1:p.Asp75Asn, NP_001337725.1:p.Asp51Asn, NP_001337724.1:p.Asp75Asn, NP_001337727.1:p.Asp51Asn, XP_011540038.1:p.Asp75Asn, XP_016857159.1:p.Asp29Asn, XP_016857132.1:p.Asp163Asn, XP_016857151.1:p.Asp51Asn, XP_016857153.1:p.Asp51Asn, XP_016857158.1:p.Asp29Asn, XP_016857168.1:p.Asp163Asn, XP_024303944.1:p.Asp163Asn, XP_011540032.1:p.Asp163Asn, XP_011540033.1:p.Asp163Asn, XP_016857135.1:p.Asp163Asn, XP_016857134.1:p.Asp163Asn, XP_016857138.1:p.Asp163Asn, XP_016857141.1:p.Asp163Asn, XP_016857144.1:p.Asp75Asn, XP_016857160.1:p.Asp29Asn, XP_047280337.1:p.Asp163Asn, XP_047280350.1:p.Asp29Asn, XP_047280354.1:p.Asp29Asn, XP_047280338.1:p.Asp163Asn, XP_047280339.1:p.Asp163Asn, XP_047280340.1:p.Asp163Asn, XP_047280343.1:p.Asp163Asn, XP_047280336.1:p.Asp163Asn, XP_047280342.1:p.Asp163Asn, XP_047280344.1:p.Asp163Asn, XP_047280345.1:p.Asp107Asn, XP_047280341.1:p.Asp163Asn, XP_047280352.1:p.Asp29Asn, XP_047280351.1:p.Asp29Asn, XP_047280353.1:p.Asp29Asn, XP_047280347.1:p.Asp75Asn, XP_047280349.1:p.Asp51Asn, XP_047280348.1:p.Asp51Asn, XP_016857157.1:p.Asp29Asn, XP_047280346.1:p.Asp75Asn

                          13.

                          rs1463439878 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:59512377 (GRCh38)
                            1:59978049 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:59512376:T:C
                            Gene:
                            FGGY (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by cluster
                            MAF:
                            C=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000001.11:g.59512377T>C, NC_000001.10:g.59978049T>C, NG_030039.1:g.220425T>C, NM_018291.5:c.737T>C, NM_018291.4:c.737T>C, NM_018291.3:c.737T>C, NR_103473.2:n.825T>C, NR_103473.1:n.907T>C, NM_001350792.2:c.569T>C, NM_001350792.1:c.569T>C, NM_001350793.2:c.569T>C, NM_001350793.1:c.569T>C, NM_001350790.2:c.737T>C, NM_001350790.1:c.737T>C, NM_001350791.2:c.737T>C, NM_001350791.1:c.737T>C, NM_001113411.2:c.737T>C, NM_001113411.1:c.737T>C, NM_001350794.2:c.737T>C, NM_001350794.1:c.737T>C, NM_001350797.2:c.335T>C, NM_001350797.1:c.335T>C, NM_001350799.2:c.401T>C, NM_001350799.1:c.401T>C, NM_001244714.2:c.473T>C, NM_001244714.1:c.473T>C, NM_001350796.2:c.401T>C, NM_001350796.1:c.401T>C, NM_001350795.2:c.473T>C, NM_001350795.1:c.473T>C, NM_001350798.2:c.401T>C, NM_001350798.1:c.401T>C, XM_011541736.4:c.473T>C, XM_011541736.3:c.473T>C, XM_011541736.2:c.473T>C, XM_011541736.1:c.473T>C, XM_017001670.3:c.335T>C, XM_017001670.2:c.335T>C, XM_017001670.1:c.335T>C, XM_017001643.3:c.737T>C, XM_017001643.2:c.737T>C, XM_017001643.1:c.737T>C, XM_017001662.3:c.401T>C, XM_017001662.2:c.401T>C, XM_017001662.1:c.401T>C, XM_017001664.3:c.401T>C, XM_017001664.2:c.401T>C, XM_017001664.1:c.401T>C, XM_017001669.3:c.335T>C, XM_017001669.2:c.335T>C, XM_017001669.1:c.335T>C, XM_017001677.2:c.113T>C, XM_017001677.1:c.113T>C, XM_017001679.2:c.737T>C, XM_017001679.1:c.737T>C, XM_017001678.2:c.113T>C, XM_017001678.1:c.113T>C, XM_024448229.2:c.113T>C, XM_024448229.1:c.113T>C, XM_024448176.2:c.737T>C, XM_024448176.1:c.737T>C, XM_011541730.2:c.737T>C, XM_011541730.1:c.737T>C, XM_011541731.2:c.737T>C, XM_011541731.1:c.737T>C, XM_017001646.2:c.737T>C, XM_017001646.1:c.737T>C, XM_017001645.2:c.737T>C, XM_017001645.1:c.737T>C, XM_017001649.2:c.737T>C, XM_017001649.1:c.737T>C, XM_017001652.2:c.737T>C, XM_017001652.1:c.737T>C, XM_017001655.2:c.473T>C, XM_017001655.1:c.473T>C, XM_017001671.2:c.335T>C, XM_017001671.1:c.335T>C, XM_047424400.1:c.113T>C, XM_047424381.1:c.737T>C, XM_047424394.1:c.335T>C, XM_047424398.1:c.335T>C, XM_047424382.1:c.737T>C, XM_047424383.1:c.737T>C, XM_047424384.1:c.737T>C, XM_047424387.1:c.737T>C, XM_047424380.1:c.737T>C, XM_047424386.1:c.737T>C, XM_047424388.1:c.737T>C, XM_047424389.1:c.569T>C, XM_047424385.1:c.737T>C, XM_047424396.1:c.335T>C, XM_047424395.1:c.335T>C, XM_047424397.1:c.335T>C, XM_047424391.1:c.473T>C, XM_047424393.1:c.401T>C, XM_047424392.1:c.401T>C, XM_017001668.1:c.335T>C, XM_047424390.1:c.473T>C, XM_047424399.1:c.113T>C, XR_007061930.1:n.896T>C, XR_007061929.1:n.846T>C, XM_047424401.1:c.80T>C, NP_060761.3:p.Leu246Pro, NP_001337721.1:p.Leu190Pro, NP_001337722.1:p.Leu190Pro, NP_001337719.1:p.Leu246Pro, NP_001337720.1:p.Leu246Pro, NP_001106882.1:p.Leu246Pro, NP_001337723.1:p.Leu246Pro, NP_001337726.1:p.Leu112Pro, NP_001337728.1:p.Leu134Pro, NP_001231643.1:p.Leu158Pro, NP_001337725.1:p.Leu134Pro, NP_001337724.1:p.Leu158Pro, NP_001337727.1:p.Leu134Pro, XP_011540038.1:p.Leu158Pro, XP_016857159.1:p.Leu112Pro, XP_016857132.1:p.Leu246Pro, XP_016857151.1:p.Leu134Pro, XP_016857153.1:p.Leu134Pro, XP_016857158.1:p.Leu112Pro, XP_016857166.1:p.Leu38Pro, XP_016857168.1:p.Leu246Pro, XP_016857167.1:p.Leu38Pro, XP_024303997.1:p.Leu38Pro, XP_024303944.1:p.Leu246Pro, XP_011540032.1:p.Leu246Pro, XP_011540033.1:p.Leu246Pro, XP_016857135.1:p.Leu246Pro, XP_016857134.1:p.Leu246Pro, XP_016857138.1:p.Leu246Pro, XP_016857141.1:p.Leu246Pro, XP_016857144.1:p.Leu158Pro, XP_016857160.1:p.Leu112Pro, XP_047280356.1:p.Leu38Pro, XP_047280337.1:p.Leu246Pro, XP_047280350.1:p.Leu112Pro, XP_047280354.1:p.Leu112Pro, XP_047280338.1:p.Leu246Pro, XP_047280339.1:p.Leu246Pro, XP_047280340.1:p.Leu246Pro, XP_047280343.1:p.Leu246Pro, XP_047280336.1:p.Leu246Pro, XP_047280342.1:p.Leu246Pro, XP_047280344.1:p.Leu246Pro, XP_047280345.1:p.Leu190Pro, XP_047280341.1:p.Leu246Pro, XP_047280352.1:p.Leu112Pro, XP_047280351.1:p.Leu112Pro, XP_047280353.1:p.Leu112Pro, XP_047280347.1:p.Leu158Pro, XP_047280349.1:p.Leu134Pro, XP_047280348.1:p.Leu134Pro, XP_016857157.1:p.Leu112Pro, XP_047280346.1:p.Leu158Pro, XP_047280355.1:p.Leu38Pro, XP_047280357.1:p.Leu27Pro

                            14.

                            rs1462774385 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              GCC>- [Show Flanks]
                              Chromosome:
                              1:59660273 (GRCh38)
                              1:60125945 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:59660272:GCC:
                              Gene:
                              FGGY (Varview)
                              Functional Consequence:
                              inframe_deletion,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.59660273_59660275del, NC_000001.10:g.60125945_60125947del, NG_030039.1:g.368321_368323del, NM_018291.5:c.1276_1278del, NM_018291.4:c.1276_1278del, NM_018291.3:c.1276_1278del, NR_103473.2:n.1364_1366del, NR_103473.1:n.1446_1448del, NM_001350792.2:c.1108_1110del, NM_001350792.1:c.1108_1110del, NM_001350793.2:c.1108_1110del, NM_001350793.1:c.1108_1110del, NM_001350790.2:c.1348_1350del, NM_001350790.1:c.1348_1350del, NM_001350791.2:c.1276_1278del, NM_001350791.1:c.1276_1278del, NM_001113411.2:c.1348_1350del, NM_001113411.1:c.1348_1350del, NM_001350794.2:c.1276_1278del, NM_001350794.1:c.1276_1278del, NM_001350797.2:c.874_876del, NM_001350797.1:c.874_876del, NM_001350799.2:c.940_942del, NM_001350799.1:c.940_942del, NM_001244714.2:c.1012_1014del, NM_001244714.1:c.1012_1014del, NM_001350796.2:c.940_942del, NM_001350796.1:c.940_942del, NM_001350795.2:c.1084_1086del, NM_001350795.1:c.1084_1086del, NM_001350798.2:c.1012_1014del, NM_001350798.1:c.1012_1014del, NM_001278224.2:c.379_381del, NM_001278224.1:c.379_381del, XM_011541736.4:c.1084_1086del, XM_011541736.3:c.1084_1086del, XM_011541736.2:c.1084_1086del, XM_011541736.1:c.1084_1086del, XM_017001670.3:c.946_948del, XM_017001670.2:c.946_948del, XM_017001670.1:c.946_948del, XM_017001643.3:c.1348_1350del, XM_017001643.2:c.1348_1350del, XM_017001643.1:c.1348_1350del, XM_017001662.3:c.1012_1014del, XM_017001662.2:c.1012_1014del, XM_017001662.1:c.1012_1014del, XM_017001664.3:c.1012_1014del, XM_017001664.2:c.1012_1014del, XM_017001664.1:c.1012_1014del, XM_017001669.3:c.946_948del, XM_017001669.2:c.946_948del, XM_017001669.1:c.946_948del, XM_017001677.2:c.724_726del, XM_017001677.1:c.724_726del, XM_017001679.2:c.*42_*44del, XM_017001679.1:c.*42_*44del, XM_017001678.2:c.724_726del, XM_017001678.1:c.724_726del, XM_024448229.2:c.652_654del, XM_024448229.1:c.652_654del, XM_024448176.2:c.1348_1350del, XM_024448176.1:c.1348_1350del, XM_011541730.2:c.1348_1350del, XM_011541730.1:c.1348_1350del, XM_011541731.2:c.1348_1350del, XM_011541731.1:c.1348_1350del, XM_017001646.2:c.1276_1278del, XM_017001646.1:c.1276_1278del, XM_017001645.2:c.1276_1278del, XM_017001645.1:c.1276_1278del, XM_017001649.2:c.1348_1350del, XM_017001649.1:c.1348_1350del, XM_017001652.2:c.1276_1278del, XM_017001652.1:c.1276_1278del, XM_017001655.2:c.1084_1086del, XM_017001655.1:c.1084_1086del, XM_017001671.2:c.946_948del, XM_017001671.1:c.946_948del, XM_047424400.1:c.724_726del, XM_047424381.1:c.1348_1350del, XM_047424394.1:c.946_948del, XM_047424398.1:c.874_876del, XM_047424382.1:c.1348_1350del, XM_047424383.1:c.1348_1350del, XM_047424384.1:c.1348_1350del, XM_047424387.1:c.1276_1278del, XM_047424380.1:c.1348_1350del, XM_047424386.1:c.1276_1278del, XM_047424388.1:c.1276_1278del, XM_047424389.1:c.1180_1182del, XM_047424385.1:c.1348_1350del, XM_047424396.1:c.946_948del, XM_047424395.1:c.946_948del, XM_047424397.1:c.946_948del, XM_047424391.1:c.1012_1014del, XM_047424393.1:c.1012_1014del, XM_047424392.1:c.1012_1014del, XM_017001668.1:c.946_948del, XM_047424390.1:c.1012_1014del, XM_047424399.1:c.724_726del, XR_007061930.1:n.1287_1289del, XR_007061929.1:n.1237_1239del, XM_047424401.1:c.691_693del, NP_060761.3:p.Ala426del, NP_001337721.1:p.Ala370del, NP_001337722.1:p.Ala370del, NP_001337719.1:p.Ala450del, NP_001337720.1:p.Ala426del, NP_001106882.1:p.Ala450del, NP_001337723.1:p.Ala426del, NP_001337726.1:p.Ala292del, NP_001337728.1:p.Ala314del, NP_001231643.1:p.Ala338del, NP_001337725.1:p.Ala314del, NP_001337724.1:p.Ala362del, NP_001337727.1:p.Ala338del, NP_001265153.1:p.Ala127del, XP_011540038.1:p.Ala362del, XP_016857159.1:p.Ala316del, XP_016857132.1:p.Ala450del, XP_016857151.1:p.Ala338del, XP_016857153.1:p.Ala338del, XP_016857158.1:p.Ala316del, XP_016857166.1:p.Ala242del, XP_016857167.1:p.Ala242del, XP_024303997.1:p.Ala218del, XP_024303944.1:p.Ala450del, XP_011540032.1:p.Ala450del, XP_011540033.1:p.Ala450del, XP_016857135.1:p.Ala426del, XP_016857134.1:p.Ala426del, XP_016857138.1:p.Ala450del, XP_016857141.1:p.Ala426del, XP_016857144.1:p.Ala362del, XP_016857160.1:p.Ala316del, XP_047280356.1:p.Ala242del, XP_047280337.1:p.Ala450del, XP_047280350.1:p.Ala316del, XP_047280354.1:p.Ala292del, XP_047280338.1:p.Ala450del, XP_047280339.1:p.Ala450del, XP_047280340.1:p.Ala450del, XP_047280343.1:p.Ala426del, XP_047280336.1:p.Ala450del, XP_047280342.1:p.Ala426del, XP_047280344.1:p.Ala426del, XP_047280345.1:p.Ala394del, XP_047280341.1:p.Ala450del, XP_047280352.1:p.Ala316del, XP_047280351.1:p.Ala316del, XP_047280353.1:p.Ala316del, XP_047280347.1:p.Ala338del, XP_047280349.1:p.Ala338del, XP_047280348.1:p.Ala338del, XP_016857157.1:p.Ala316del, XP_047280346.1:p.Ala338del, XP_047280355.1:p.Ala242del, XP_047280357.1:p.Ala231del

                              15.

                              rs1455028412 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                1:59667316 (GRCh38)
                                1:60132988 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:59667315:G:A
                                Gene:
                                FGGY (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.59667316G>A, NC_000001.10:g.60132988G>A, NG_030039.1:g.375364G>A, NM_018291.5:c.1330G>A, NM_018291.4:c.1330G>A, NM_018291.3:c.1330G>A, NR_103473.2:n.1418G>A, NR_103473.1:n.1500G>A, NM_001350792.2:c.1162G>A, NM_001350792.1:c.1162G>A, NM_001350793.2:c.1162G>A, NM_001350793.1:c.1162G>A, NM_001350790.2:c.1402G>A, NM_001350790.1:c.1402G>A, NM_001350791.2:c.1330G>A, NM_001350791.1:c.1330G>A, NM_001113411.2:c.1402G>A, NM_001113411.1:c.1402G>A, NM_001350794.2:c.1330G>A, NM_001350794.1:c.1330G>A, NM_001350797.2:c.928G>A, NM_001350797.1:c.928G>A, NM_001350799.2:c.994G>A, NM_001350799.1:c.994G>A, NM_001244714.2:c.1066G>A, NM_001244714.1:c.1066G>A, NM_001350796.2:c.994G>A, NM_001350796.1:c.994G>A, NM_001350795.2:c.1138G>A, NM_001350795.1:c.1138G>A, NM_001350798.2:c.1066G>A, NM_001350798.1:c.1066G>A, NM_001278224.2:c.433G>A, NM_001278224.1:c.433G>A, XM_011541736.4:c.1138G>A, XM_011541736.3:c.1138G>A, XM_011541736.2:c.1138G>A, XM_011541736.1:c.1138G>A, XM_017001670.3:c.1000G>A, XM_017001670.2:c.1000G>A, XM_017001670.1:c.1000G>A, XM_017001643.3:c.1402G>A, XM_017001643.2:c.1402G>A, XM_017001643.1:c.1402G>A, XM_017001662.3:c.1066G>A, XM_017001662.2:c.1066G>A, XM_017001662.1:c.1066G>A, XM_017001664.3:c.1066G>A, XM_017001664.2:c.1066G>A, XM_017001664.1:c.1066G>A, XM_017001669.3:c.1000G>A, XM_017001669.2:c.1000G>A, XM_017001669.1:c.1000G>A, XM_017001677.2:c.778G>A, XM_017001677.1:c.778G>A, XM_017001678.2:c.778G>A, XM_017001678.1:c.778G>A, XM_024448229.2:c.706G>A, XM_024448229.1:c.706G>A, XM_024448176.2:c.1402G>A, XM_024448176.1:c.1402G>A, XM_011541730.2:c.1402G>A, XM_011541730.1:c.1402G>A, XM_011541731.2:c.1402G>A, XM_011541731.1:c.1402G>A, XM_017001646.2:c.1330G>A, XM_017001646.1:c.1330G>A, XM_017001645.2:c.1330G>A, XM_017001645.1:c.1330G>A, XM_017001649.2:c.1402G>A, XM_017001649.1:c.1402G>A, XM_017001652.2:c.1330G>A, XM_017001652.1:c.1330G>A, XM_017001655.2:c.1138G>A, XM_017001655.1:c.1138G>A, XM_017001671.2:c.1000G>A, XM_017001671.1:c.1000G>A, XM_047424400.1:c.778G>A, XM_047424381.1:c.1402G>A, XM_047424394.1:c.1000G>A, XM_047424398.1:c.928G>A, XM_047424382.1:c.1402G>A, XM_047424383.1:c.1402G>A, XM_047424384.1:c.1402G>A, XM_047424387.1:c.1330G>A, XM_047424380.1:c.1402G>A, XM_047424386.1:c.1330G>A, XM_047424388.1:c.1330G>A, XM_047424389.1:c.1234G>A, XM_047424385.1:c.1402G>A, XM_047424396.1:c.1000G>A, XM_047424395.1:c.1000G>A, XM_047424397.1:c.1000G>A, XM_047424391.1:c.1066G>A, XM_047424393.1:c.1066G>A, XM_047424392.1:c.1066G>A, XM_017001668.1:c.1000G>A, XM_047424390.1:c.1066G>A, XM_047424399.1:c.778G>A, XR_007061930.1:n.1341G>A, XR_007061929.1:n.1291G>A, XM_047424401.1:c.745G>A, NP_060761.3:p.Ala444Thr, NP_001337721.1:p.Ala388Thr, NP_001337722.1:p.Ala388Thr, NP_001337719.1:p.Ala468Thr, NP_001337720.1:p.Ala444Thr, NP_001106882.1:p.Ala468Thr, NP_001337723.1:p.Ala444Thr, NP_001337726.1:p.Ala310Thr, NP_001337728.1:p.Ala332Thr, NP_001231643.1:p.Ala356Thr, NP_001337725.1:p.Ala332Thr, NP_001337724.1:p.Ala380Thr, NP_001337727.1:p.Ala356Thr, NP_001265153.1:p.Ala145Thr, XP_011540038.1:p.Ala380Thr, XP_016857159.1:p.Ala334Thr, XP_016857132.1:p.Ala468Thr, XP_016857151.1:p.Ala356Thr, XP_016857153.1:p.Ala356Thr, XP_016857158.1:p.Ala334Thr, XP_016857166.1:p.Ala260Thr, XP_016857167.1:p.Ala260Thr, XP_024303997.1:p.Ala236Thr, XP_024303944.1:p.Ala468Thr, XP_011540032.1:p.Ala468Thr, XP_011540033.1:p.Ala468Thr, XP_016857135.1:p.Ala444Thr, XP_016857134.1:p.Ala444Thr, XP_016857138.1:p.Ala468Thr, XP_016857141.1:p.Ala444Thr, XP_016857144.1:p.Ala380Thr, XP_016857160.1:p.Ala334Thr, XP_047280356.1:p.Ala260Thr, XP_047280337.1:p.Ala468Thr, XP_047280350.1:p.Ala334Thr, XP_047280354.1:p.Ala310Thr, XP_047280338.1:p.Ala468Thr, XP_047280339.1:p.Ala468Thr, XP_047280340.1:p.Ala468Thr, XP_047280343.1:p.Ala444Thr, XP_047280336.1:p.Ala468Thr, XP_047280342.1:p.Ala444Thr, XP_047280344.1:p.Ala444Thr, XP_047280345.1:p.Ala412Thr, XP_047280341.1:p.Ala468Thr, XP_047280352.1:p.Ala334Thr, XP_047280351.1:p.Ala334Thr, XP_047280353.1:p.Ala334Thr, XP_047280347.1:p.Ala356Thr, XP_047280349.1:p.Ala356Thr, XP_047280348.1:p.Ala356Thr, XP_016857157.1:p.Ala334Thr, XP_047280346.1:p.Ala356Thr, XP_047280355.1:p.Ala260Thr, XP_047280357.1:p.Ala249Thr

                                16.

                                rs1455009580 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:59378806 (GRCh38)
                                  1:59844478 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:59378805:T:C
                                  Gene:
                                  FGGY (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000016/4 (GnomAD_exomes)
                                  C=0.00003/8 (TOPMED)
                                  C=0.000036/5 (GnomAD)
                                  HGVS:
                                  NC_000001.11:g.59378806T>C, NC_000001.10:g.59844478T>C, NG_030039.1:g.86854T>C, NM_018291.5:c.523T>C, NM_018291.4:c.523T>C, NM_018291.3:c.523T>C, NR_103473.2:n.611T>C, NR_103473.1:n.693T>C, NM_001350792.2:c.355T>C, NM_001350792.1:c.355T>C, NM_001350793.2:c.355T>C, NM_001350793.1:c.355T>C, NM_001350790.2:c.523T>C, NM_001350790.1:c.523T>C, NM_001350791.2:c.523T>C, NM_001350791.1:c.523T>C, NM_001113411.2:c.523T>C, NM_001113411.1:c.523T>C, NM_001350794.2:c.523T>C, NM_001350794.1:c.523T>C, NM_001350797.2:c.121T>C, NM_001350797.1:c.121T>C, NM_001350799.2:c.187T>C, NM_001350799.1:c.187T>C, NM_001244714.2:c.259T>C, NM_001244714.1:c.259T>C, NM_001350796.2:c.187T>C, NM_001350796.1:c.187T>C, NM_001350795.2:c.259T>C, NM_001350795.1:c.259T>C, NM_001350798.2:c.187T>C, NM_001350798.1:c.187T>C, XM_011541736.4:c.259T>C, XM_011541736.3:c.259T>C, XM_011541736.2:c.259T>C, XM_011541736.1:c.259T>C, XM_017001670.3:c.121T>C, XM_017001670.2:c.121T>C, XM_017001670.1:c.121T>C, XM_017001643.3:c.523T>C, XM_017001643.2:c.523T>C, XM_017001643.1:c.523T>C, XM_017001662.3:c.187T>C, XM_017001662.2:c.187T>C, XM_017001662.1:c.187T>C, XM_017001664.3:c.187T>C, XM_017001664.2:c.187T>C, XM_017001664.1:c.187T>C, XM_017001669.3:c.121T>C, XM_017001669.2:c.121T>C, XM_017001669.1:c.121T>C, XM_017001679.2:c.523T>C, XM_017001679.1:c.523T>C, XM_024448176.2:c.523T>C, XM_024448176.1:c.523T>C, XM_011541730.2:c.523T>C, XM_011541730.1:c.523T>C, XM_011541731.2:c.523T>C, XM_011541731.1:c.523T>C, XM_017001646.2:c.523T>C, XM_017001646.1:c.523T>C, XM_017001645.2:c.523T>C, XM_017001645.1:c.523T>C, XM_017001649.2:c.523T>C, XM_017001649.1:c.523T>C, XM_017001652.2:c.523T>C, XM_017001652.1:c.523T>C, XM_017001655.2:c.259T>C, XM_017001655.1:c.259T>C, XM_017001671.2:c.121T>C, XM_017001671.1:c.121T>C, XM_047424381.1:c.523T>C, XM_047424394.1:c.121T>C, XM_047424398.1:c.121T>C, XM_047424382.1:c.523T>C, XM_047424383.1:c.523T>C, XM_047424384.1:c.523T>C, XM_047424387.1:c.523T>C, XM_047424380.1:c.523T>C, XM_047424386.1:c.523T>C, XM_047424388.1:c.523T>C, XM_047424389.1:c.355T>C, XM_047424385.1:c.523T>C, XM_047424396.1:c.121T>C, XM_047424395.1:c.121T>C, XM_047424397.1:c.121T>C, XM_047424391.1:c.259T>C, XM_047424393.1:c.187T>C, XM_047424392.1:c.187T>C, XM_017001668.1:c.121T>C, XM_047424390.1:c.259T>C, XM_047424399.1:c.-102T>C, XR_007061930.1:n.682T>C, XR_007061929.1:n.632T>C

                                  17.

                                  rs1449165737 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G [Show Flanks]
                                    Chromosome:
                                    1:59456967 (GRCh38)
                                    1:59922639 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:59456966:C:A,NC_000001.11:59456966:C:G
                                    Gene:
                                    FGGY (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.59456967C>A, NC_000001.11:g.59456967C>G, NC_000001.10:g.59922639C>A, NC_000001.10:g.59922639C>G, NG_030039.1:g.165015C>A, NG_030039.1:g.165015C>G, NM_018291.5:c.561C>A, NM_018291.5:c.561C>G, NM_018291.4:c.561C>A, NM_018291.4:c.561C>G, NM_018291.3:c.561C>A, NM_018291.3:c.561C>G, NR_103473.2:n.649C>A, NR_103473.2:n.649C>G, NR_103473.1:n.731C>A, NR_103473.1:n.731C>G, NM_001350792.2:c.393C>A, NM_001350792.2:c.393C>G, NM_001350792.1:c.393C>A, NM_001350792.1:c.393C>G, NM_001350793.2:c.393C>A, NM_001350793.2:c.393C>G, NM_001350793.1:c.393C>A, NM_001350793.1:c.393C>G, NM_001350790.2:c.561C>A, NM_001350790.2:c.561C>G, NM_001350790.1:c.561C>A, NM_001350790.1:c.561C>G, NM_001350791.2:c.561C>A, NM_001350791.2:c.561C>G, NM_001350791.1:c.561C>A, NM_001350791.1:c.561C>G, NM_001113411.2:c.561C>A, NM_001113411.2:c.561C>G, NM_001113411.1:c.561C>A, NM_001113411.1:c.561C>G, NM_001350794.2:c.561C>A, NM_001350794.2:c.561C>G, NM_001350794.1:c.561C>A, NM_001350794.1:c.561C>G, NM_001350797.2:c.159C>A, NM_001350797.2:c.159C>G, NM_001350797.1:c.159C>A, NM_001350797.1:c.159C>G, NM_001350799.2:c.225C>A, NM_001350799.2:c.225C>G, NM_001350799.1:c.225C>A, NM_001350799.1:c.225C>G, NM_001244714.2:c.297C>A, NM_001244714.2:c.297C>G, NM_001244714.1:c.297C>A, NM_001244714.1:c.297C>G, NM_001350796.2:c.225C>A, NM_001350796.2:c.225C>G, NM_001350796.1:c.225C>A, NM_001350796.1:c.225C>G, NM_001350795.2:c.297C>A, NM_001350795.2:c.297C>G, NM_001350795.1:c.297C>A, NM_001350795.1:c.297C>G, NM_001350798.2:c.225C>A, NM_001350798.2:c.225C>G, NM_001350798.1:c.225C>A, NM_001350798.1:c.225C>G, XM_011541736.4:c.297C>A, XM_011541736.4:c.297C>G, XM_011541736.3:c.297C>A, XM_011541736.3:c.297C>G, XM_011541736.2:c.297C>A, XM_011541736.2:c.297C>G, XM_011541736.1:c.297C>A, XM_011541736.1:c.297C>G, XM_017001670.3:c.159C>A, XM_017001670.3:c.159C>G, XM_017001670.2:c.159C>A, XM_017001670.2:c.159C>G, XM_017001670.1:c.159C>A, XM_017001670.1:c.159C>G, XM_017001643.3:c.561C>A, XM_017001643.3:c.561C>G, XM_017001643.2:c.561C>A, XM_017001643.2:c.561C>G, XM_017001643.1:c.561C>A, XM_017001643.1:c.561C>G, XM_017001662.3:c.225C>A, XM_017001662.3:c.225C>G, XM_017001662.2:c.225C>A, XM_017001662.2:c.225C>G, XM_017001662.1:c.225C>A, XM_017001662.1:c.225C>G, XM_017001664.3:c.225C>A, XM_017001664.3:c.225C>G, XM_017001664.2:c.225C>A, XM_017001664.2:c.225C>G, XM_017001664.1:c.225C>A, XM_017001664.1:c.225C>G, XM_017001669.3:c.159C>A, XM_017001669.3:c.159C>G, XM_017001669.2:c.159C>A, XM_017001669.2:c.159C>G, XM_017001669.1:c.159C>A, XM_017001669.1:c.159C>G, XM_017001677.2:c.-64C>A, XM_017001677.2:c.-64C>G, XM_017001677.1:c.-64C>A, XM_017001677.1:c.-64C>G, XM_017001679.2:c.561C>A, XM_017001679.2:c.561C>G, XM_017001679.1:c.561C>A, XM_017001679.1:c.561C>G, XM_017001678.2:c.-64C>A, XM_017001678.2:c.-64C>G, XM_017001678.1:c.-64C>A, XM_017001678.1:c.-64C>G, XM_024448229.2:c.-64C>A, XM_024448229.2:c.-64C>G, XM_024448229.1:c.-64C>A, XM_024448229.1:c.-64C>G, XM_024448176.2:c.561C>A, XM_024448176.2:c.561C>G, XM_024448176.1:c.561C>A, XM_024448176.1:c.561C>G, XM_011541730.2:c.561C>A, XM_011541730.2:c.561C>G, XM_011541730.1:c.561C>A, XM_011541730.1:c.561C>G, XM_011541731.2:c.561C>A, XM_011541731.2:c.561C>G, XM_011541731.1:c.561C>A, XM_011541731.1:c.561C>G, XM_017001646.2:c.561C>A, XM_017001646.2:c.561C>G, XM_017001646.1:c.561C>A, XM_017001646.1:c.561C>G, XM_017001645.2:c.561C>A, XM_017001645.2:c.561C>G, XM_017001645.1:c.561C>A, XM_017001645.1:c.561C>G, XM_017001649.2:c.561C>A, XM_017001649.2:c.561C>G, XM_017001649.1:c.561C>A, XM_017001649.1:c.561C>G, XM_017001652.2:c.561C>A, XM_017001652.2:c.561C>G, XM_017001652.1:c.561C>A, XM_017001652.1:c.561C>G, XM_017001655.2:c.297C>A, XM_017001655.2:c.297C>G, XM_017001655.1:c.297C>A, XM_017001655.1:c.297C>G, XM_017001671.2:c.159C>A, XM_017001671.2:c.159C>G, XM_017001671.1:c.159C>A, XM_017001671.1:c.159C>G, XM_047424400.1:c.-64C>A, XM_047424400.1:c.-64C>G, XM_047424381.1:c.561C>A, XM_047424381.1:c.561C>G, XM_047424394.1:c.159C>A, XM_047424394.1:c.159C>G, XM_047424398.1:c.159C>A, XM_047424398.1:c.159C>G, XM_047424382.1:c.561C>A, XM_047424382.1:c.561C>G, XM_047424383.1:c.561C>A, XM_047424383.1:c.561C>G, XM_047424384.1:c.561C>A, XM_047424384.1:c.561C>G, XM_047424387.1:c.561C>A, XM_047424387.1:c.561C>G, XM_047424380.1:c.561C>A, XM_047424380.1:c.561C>G, XM_047424386.1:c.561C>A, XM_047424386.1:c.561C>G, XM_047424388.1:c.561C>A, XM_047424388.1:c.561C>G, XM_047424389.1:c.393C>A, XM_047424389.1:c.393C>G, XM_047424385.1:c.561C>A, XM_047424385.1:c.561C>G, XM_047424396.1:c.159C>A, XM_047424396.1:c.159C>G, XM_047424395.1:c.159C>A, XM_047424395.1:c.159C>G, XM_047424397.1:c.159C>A, XM_047424397.1:c.159C>G, XM_047424391.1:c.297C>A, XM_047424391.1:c.297C>G, XM_047424393.1:c.225C>A, XM_047424393.1:c.225C>G, XM_047424392.1:c.225C>A, XM_047424392.1:c.225C>G, XM_017001668.1:c.159C>A, XM_017001668.1:c.159C>G, XM_047424390.1:c.297C>A, XM_047424390.1:c.297C>G, XM_047424399.1:c.-64C>A, XM_047424399.1:c.-64C>G, XR_007061930.1:n.720C>A, XR_007061930.1:n.720C>G, XR_007061929.1:n.670C>A, XR_007061929.1:n.670C>G

                                    18.

                                    rs1448164576 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      1:59660260 (GRCh38)
                                      1:60125932 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:59660259:C:T
                                      Gene:
                                      FGGY (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.59660260C>T, NC_000001.10:g.60125932C>T, NG_030039.1:g.368308C>T, NM_018291.5:c.1263C>T, NM_018291.4:c.1263C>T, NM_018291.3:c.1263C>T, NR_103473.2:n.1351C>T, NR_103473.1:n.1433C>T, NM_001350792.2:c.1095C>T, NM_001350792.1:c.1095C>T, NM_001350793.2:c.1095C>T, NM_001350793.1:c.1095C>T, NM_001350790.2:c.1335C>T, NM_001350790.1:c.1335C>T, NM_001350791.2:c.1263C>T, NM_001350791.1:c.1263C>T, NM_001113411.2:c.1335C>T, NM_001113411.1:c.1335C>T, NM_001350794.2:c.1263C>T, NM_001350794.1:c.1263C>T, NM_001350797.2:c.861C>T, NM_001350797.1:c.861C>T, NM_001350799.2:c.927C>T, NM_001350799.1:c.927C>T, NM_001244714.2:c.999C>T, NM_001244714.1:c.999C>T, NM_001350796.2:c.927C>T, NM_001350796.1:c.927C>T, NM_001350795.2:c.1071C>T, NM_001350795.1:c.1071C>T, NM_001350798.2:c.999C>T, NM_001350798.1:c.999C>T, NM_001278224.2:c.366C>T, NM_001278224.1:c.366C>T, XM_011541736.4:c.1071C>T, XM_011541736.3:c.1071C>T, XM_011541736.2:c.1071C>T, XM_011541736.1:c.1071C>T, XM_017001670.3:c.933C>T, XM_017001670.2:c.933C>T, XM_017001670.1:c.933C>T, XM_017001643.3:c.1335C>T, XM_017001643.2:c.1335C>T, XM_017001643.1:c.1335C>T, XM_017001662.3:c.999C>T, XM_017001662.2:c.999C>T, XM_017001662.1:c.999C>T, XM_017001664.3:c.999C>T, XM_017001664.2:c.999C>T, XM_017001664.1:c.999C>T, XM_017001669.3:c.933C>T, XM_017001669.2:c.933C>T, XM_017001669.1:c.933C>T, XM_017001677.2:c.711C>T, XM_017001677.1:c.711C>T, XM_017001679.2:c.*29C>T, XM_017001679.1:c.*29C>T, XM_017001678.2:c.711C>T, XM_017001678.1:c.711C>T, XM_024448229.2:c.639C>T, XM_024448229.1:c.639C>T, XM_024448176.2:c.1335C>T, XM_024448176.1:c.1335C>T, XM_011541730.2:c.1335C>T, XM_011541730.1:c.1335C>T, XM_011541731.2:c.1335C>T, XM_011541731.1:c.1335C>T, XM_017001646.2:c.1263C>T, XM_017001646.1:c.1263C>T, XM_017001645.2:c.1263C>T, XM_017001645.1:c.1263C>T, XM_017001649.2:c.1335C>T, XM_017001649.1:c.1335C>T, XM_017001652.2:c.1263C>T, XM_017001652.1:c.1263C>T, XM_017001655.2:c.1071C>T, XM_017001655.1:c.1071C>T, XM_017001671.2:c.933C>T, XM_017001671.1:c.933C>T, XM_047424400.1:c.711C>T, XM_047424381.1:c.1335C>T, XM_047424394.1:c.933C>T, XM_047424398.1:c.861C>T, XM_047424382.1:c.1335C>T, XM_047424383.1:c.1335C>T, XM_047424384.1:c.1335C>T, XM_047424387.1:c.1263C>T, XM_047424380.1:c.1335C>T, XM_047424386.1:c.1263C>T, XM_047424388.1:c.1263C>T, XM_047424389.1:c.1167C>T, XM_047424385.1:c.1335C>T, XM_047424396.1:c.933C>T, XM_047424395.1:c.933C>T, XM_047424397.1:c.933C>T, XM_047424391.1:c.999C>T, XM_047424393.1:c.999C>T, XM_047424392.1:c.999C>T, XM_017001668.1:c.933C>T, XM_047424390.1:c.999C>T, XM_047424399.1:c.711C>T, XR_007061930.1:n.1274C>T, XR_007061929.1:n.1224C>T, XM_047424401.1:c.678C>T

                                      19.

                                      rs1444463646 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        1:59378830 (GRCh38)
                                        1:59844502 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:59378829:A:C
                                        Gene:
                                        FGGY (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.59378830A>C, NC_000001.10:g.59844502A>C, NG_030039.1:g.86878A>C, NM_018291.5:c.547A>C, NM_018291.4:c.547A>C, NM_018291.3:c.547A>C, NR_103473.2:n.635A>C, NR_103473.1:n.717A>C, NM_001350792.2:c.379A>C, NM_001350792.1:c.379A>C, NM_001350793.2:c.379A>C, NM_001350793.1:c.379A>C, NM_001350790.2:c.547A>C, NM_001350790.1:c.547A>C, NM_001350791.2:c.547A>C, NM_001350791.1:c.547A>C, NM_001113411.2:c.547A>C, NM_001113411.1:c.547A>C, NM_001350794.2:c.547A>C, NM_001350794.1:c.547A>C, NM_001350797.2:c.145A>C, NM_001350797.1:c.145A>C, NM_001350799.2:c.211A>C, NM_001350799.1:c.211A>C, NM_001244714.2:c.283A>C, NM_001244714.1:c.283A>C, NM_001350796.2:c.211A>C, NM_001350796.1:c.211A>C, NM_001350795.2:c.283A>C, NM_001350795.1:c.283A>C, NM_001350798.2:c.211A>C, NM_001350798.1:c.211A>C, XM_011541736.4:c.283A>C, XM_011541736.3:c.283A>C, XM_011541736.2:c.283A>C, XM_011541736.1:c.283A>C, XM_017001670.3:c.145A>C, XM_017001670.2:c.145A>C, XM_017001670.1:c.145A>C, XM_017001643.3:c.547A>C, XM_017001643.2:c.547A>C, XM_017001643.1:c.547A>C, XM_017001662.3:c.211A>C, XM_017001662.2:c.211A>C, XM_017001662.1:c.211A>C, XM_017001664.3:c.211A>C, XM_017001664.2:c.211A>C, XM_017001664.1:c.211A>C, XM_017001669.3:c.145A>C, XM_017001669.2:c.145A>C, XM_017001669.1:c.145A>C, XM_017001679.2:c.547A>C, XM_017001679.1:c.547A>C, XM_024448176.2:c.547A>C, XM_024448176.1:c.547A>C, XM_011541730.2:c.547A>C, XM_011541730.1:c.547A>C, XM_011541731.2:c.547A>C, XM_011541731.1:c.547A>C, XM_017001646.2:c.547A>C, XM_017001646.1:c.547A>C, XM_017001645.2:c.547A>C, XM_017001645.1:c.547A>C, XM_017001649.2:c.547A>C, XM_017001649.1:c.547A>C, XM_017001652.2:c.547A>C, XM_017001652.1:c.547A>C, XM_017001655.2:c.283A>C, XM_017001655.1:c.283A>C, XM_017001671.2:c.145A>C, XM_017001671.1:c.145A>C, XM_047424381.1:c.547A>C, XM_047424394.1:c.145A>C, XM_047424398.1:c.145A>C, XM_047424382.1:c.547A>C, XM_047424383.1:c.547A>C, XM_047424384.1:c.547A>C, XM_047424387.1:c.547A>C, XM_047424380.1:c.547A>C, XM_047424386.1:c.547A>C, XM_047424388.1:c.547A>C, XM_047424389.1:c.379A>C, XM_047424385.1:c.547A>C, XM_047424396.1:c.145A>C, XM_047424395.1:c.145A>C, XM_047424397.1:c.145A>C, XM_047424391.1:c.283A>C, XM_047424393.1:c.211A>C, XM_047424392.1:c.211A>C, XM_017001668.1:c.145A>C, XM_047424390.1:c.283A>C, XM_047424399.1:c.-78A>C, XR_007061930.1:n.706A>C, XR_007061929.1:n.656A>C, NP_060761.3:p.Thr183Pro, NP_001337721.1:p.Thr127Pro, NP_001337722.1:p.Thr127Pro, NP_001337719.1:p.Thr183Pro, NP_001337720.1:p.Thr183Pro, NP_001106882.1:p.Thr183Pro, NP_001337723.1:p.Thr183Pro, NP_001337726.1:p.Thr49Pro, NP_001337728.1:p.Thr71Pro, NP_001231643.1:p.Thr95Pro, NP_001337725.1:p.Thr71Pro, NP_001337724.1:p.Thr95Pro, NP_001337727.1:p.Thr71Pro, XP_011540038.1:p.Thr95Pro, XP_016857159.1:p.Thr49Pro, XP_016857132.1:p.Thr183Pro, XP_016857151.1:p.Thr71Pro, XP_016857153.1:p.Thr71Pro, XP_016857158.1:p.Thr49Pro, XP_016857168.1:p.Thr183Pro, XP_024303944.1:p.Thr183Pro, XP_011540032.1:p.Thr183Pro, XP_011540033.1:p.Thr183Pro, XP_016857135.1:p.Thr183Pro, XP_016857134.1:p.Thr183Pro, XP_016857138.1:p.Thr183Pro, XP_016857141.1:p.Thr183Pro, XP_016857144.1:p.Thr95Pro, XP_016857160.1:p.Thr49Pro, XP_047280337.1:p.Thr183Pro, XP_047280350.1:p.Thr49Pro, XP_047280354.1:p.Thr49Pro, XP_047280338.1:p.Thr183Pro, XP_047280339.1:p.Thr183Pro, XP_047280340.1:p.Thr183Pro, XP_047280343.1:p.Thr183Pro, XP_047280336.1:p.Thr183Pro, XP_047280342.1:p.Thr183Pro, XP_047280344.1:p.Thr183Pro, XP_047280345.1:p.Thr127Pro, XP_047280341.1:p.Thr183Pro, XP_047280352.1:p.Thr49Pro, XP_047280351.1:p.Thr49Pro, XP_047280353.1:p.Thr49Pro, XP_047280347.1:p.Thr95Pro, XP_047280349.1:p.Thr71Pro, XP_047280348.1:p.Thr71Pro, XP_016857157.1:p.Thr49Pro, XP_047280346.1:p.Thr95Pro

                                        20.

                                        rs1441160670 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:59607856 (GRCh38)
                                          1:60073528 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:59607855:C:T
                                          Gene:
                                          FGGY (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.59607856C>T, NC_000001.10:g.60073528C>T, NG_030039.1:g.315904C>T, NM_018291.5:c.957C>T, NM_018291.4:c.957C>T, NM_018291.3:c.957C>T, NR_103473.2:n.1045C>T, NR_103473.1:n.1127C>T, NM_001350792.2:c.789C>T, NM_001350792.1:c.789C>T, NM_001350793.2:c.789C>T, NM_001350793.1:c.789C>T, NM_001350790.2:c.957C>T, NM_001350790.1:c.957C>T, NM_001350791.2:c.957C>T, NM_001350791.1:c.957C>T, NM_001113411.2:c.957C>T, NM_001113411.1:c.957C>T, NM_001350794.2:c.957C>T, NM_001350794.1:c.957C>T, NM_001350797.2:c.555C>T, NM_001350797.1:c.555C>T, NM_001350799.2:c.621C>T, NM_001350799.1:c.621C>T, NM_001244714.2:c.693C>T, NM_001244714.1:c.693C>T, NM_001350796.2:c.621C>T, NM_001350796.1:c.621C>T, NM_001350795.2:c.693C>T, NM_001350795.1:c.693C>T, NM_001350798.2:c.621C>T, NM_001350798.1:c.621C>T, NM_001278224.2:c.60C>T, NM_001278224.1:c.60C>T, XM_011541736.4:c.693C>T, XM_011541736.3:c.693C>T, XM_011541736.2:c.693C>T, XM_011541736.1:c.693C>T, XM_017001670.3:c.555C>T, XM_017001670.2:c.555C>T, XM_017001670.1:c.555C>T, XM_017001643.3:c.957C>T, XM_017001643.2:c.957C>T, XM_017001643.1:c.957C>T, XM_017001662.3:c.621C>T, XM_017001662.2:c.621C>T, XM_017001662.1:c.621C>T, XM_017001664.3:c.621C>T, XM_017001664.2:c.621C>T, XM_017001664.1:c.621C>T, XM_017001669.3:c.555C>T, XM_017001669.2:c.555C>T, XM_017001669.1:c.555C>T, XM_017001677.2:c.333C>T, XM_017001677.1:c.333C>T, XM_017001679.2:c.957C>T, XM_017001679.1:c.957C>T, XM_017001678.2:c.333C>T, XM_017001678.1:c.333C>T, XM_024448229.2:c.333C>T, XM_024448229.1:c.333C>T, XM_024448176.2:c.957C>T, XM_024448176.1:c.957C>T, XM_011541730.2:c.957C>T, XM_011541730.1:c.957C>T, XM_011541731.2:c.957C>T, XM_011541731.1:c.957C>T, XM_017001646.2:c.957C>T, XM_017001646.1:c.957C>T, XM_017001645.2:c.957C>T, XM_017001645.1:c.957C>T, XM_017001649.2:c.957C>T, XM_017001649.1:c.957C>T, XM_017001652.2:c.957C>T, XM_017001652.1:c.957C>T, XM_017001655.2:c.693C>T, XM_017001655.1:c.693C>T, XM_017001671.2:c.555C>T, XM_017001671.1:c.555C>T, XM_047424400.1:c.333C>T, XM_047424381.1:c.957C>T, XM_047424394.1:c.555C>T, XM_047424398.1:c.555C>T, XM_047424382.1:c.957C>T, XM_047424383.1:c.957C>T, XM_047424384.1:c.957C>T, XM_047424387.1:c.957C>T, XM_047424380.1:c.957C>T, XM_047424386.1:c.957C>T, XM_047424388.1:c.957C>T, XM_047424389.1:c.789C>T, XM_047424385.1:c.957C>T, XM_047424396.1:c.555C>T, XM_047424395.1:c.555C>T, XM_047424397.1:c.555C>T, XM_047424391.1:c.693C>T, XM_047424393.1:c.621C>T, XM_047424392.1:c.621C>T, XM_017001668.1:c.555C>T, XM_047424390.1:c.693C>T, XM_047424399.1:c.333C>T, XR_007061930.1:n.1116C>T, XR_007061929.1:n.1066C>T, XM_047424401.1:c.300C>T

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