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Items: 1 to 20 of 403

1.

rs1487614259 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    11:111786417 (GRCh38)
    11:111657141 (GRCh37)
    Canonical SPDI:
    NC_000011.10:111786416:T:C
    Gene:
    ALG9 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.111786417T>C, NC_000011.9:g.111657141T>C, NG_009210.2:g.90164A>G, NG_009210.1:g.90164A>G, NR_147984.2:n.2455A>G, NR_147984.1:n.2435A>G, NM_001352422.2:c.1228A>G, NM_001352422.1:c.1228A>G, NM_001352420.2:c.*109A>G, NM_001352420.1:c.*109A>G, NM_001352421.2:c.*103A>G, NM_001352421.1:c.*103A>G, NM_001077691.2:c.1324A>G, NM_001077691.1:c.1324A>G, NM_001352411.2:c.1303A>G, NM_001352411.1:c.1303A>G, NM_001077692.2:c.1303A>G, NM_001077692.1:c.1303A>G, NM_001352423.2:c.1180A>G, NM_001352423.1:c.1180A>G, NM_001352414.2:c.1324A>G, NM_001352414.1:c.1324A>G, NM_001352412.2:c.1303A>G, NM_001352412.1:c.1303A>G, NM_024740.2:c.1837A>G, NM_001352413.1:c.1324A>G, NM_001352410.1:c.1303A>G, NM_001077690.1:c.1816A>G, NM_001352419.1:c.1324A>G, NM_001352415.1:c.1303A>G, NM_001352416.1:c.1303A>G, NM_001352418.1:c.1693A>G, NM_001352409.1:c.1303A>G, NM_001352417.1:c.1816A>G, NW_003871080.1:g.38409T>C, XM_005277723.6:c.1837A>G, XM_005277723.5:c.1837A>G, XM_005277723.4:c.1837A>G, XM_005277723.3:c.1837A>G, XM_005277723.2:c.1837A>G, XM_005277723.1:c.1837A>G, XM_006718913.4:c.*103A>G, XM_017018314.3:c.1714A>G, XM_017018314.2:c.1714A>G, XM_017018314.1:c.1714A>G, XR_001747967.3:n.1936A>G, XR_001747967.2:n.1925A>G, XR_001747967.1:n.1936A>G, XR_001747968.3:n.1915A>G, XR_001747968.2:n.1904A>G, XR_001747968.1:n.1915A>G, XM_024448695.2:c.*103A>G, XR_001747974.2:n.2071A>G, XR_001747974.1:n.2053A>G, XR_001747977.2:n.1745A>G, XR_001747977.1:n.1389A>G, XR_007062504.1:n.2067A>G, XR_007062503.1:n.1813A>G, NP_001339351.1:p.Arg410Gly, NP_001071159.1:p.Arg442Gly, NP_001339340.1:p.Arg435Gly, NP_001071160.1:p.Arg435Gly, NP_001339352.1:p.Arg394Gly, NP_001339343.1:p.Arg442Gly, NP_001339341.1:p.Arg435Gly, NP_079016.2:p.Arg613Gly, NP_001339342.1:p.Arg442Gly, NP_001339339.1:p.Arg435Gly, NP_001071158.1:p.Arg606Gly, NP_001339348.1:p.Arg442Gly, NP_001339344.1:p.Arg435Gly, NP_001339345.1:p.Arg435Gly, NP_001339347.1:p.Arg565Gly, NP_001339338.1:p.Arg435Gly, NP_001339346.1:p.Arg606Gly, XP_005277780.1:p.Arg613Gly, XP_016873803.1:p.Arg572Gly

    2.

    rs1486478006 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      11:111871393 (GRCh38)
      11:111742116 (GRCh37)
      Canonical SPDI:
      NC_000011.10:111871392:C:G
      Gene:
      ALG9 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000015/4 (TOPMED)
      G=0.000021/3 (GnomAD)
      HGVS:
      NC_000011.10:g.111871393C>G, NW_003871080.1:g.123384C>G, NG_009210.2:g.5188G>C, NG_009210.1:g.5189G>C, NM_024740.2:c.90G>C, NM_001352413.1:c.-428G>C, NM_001352410.1:c.-428G>C, NM_001077690.1:c.90G>C, NM_001352418.1:c.90G>C, NM_001352409.1:c.-285G>C, NM_001352417.1:c.90G>C, NC_000011.9:g.111742116C>G, XM_005277723.6:c.90G>C, XM_005277723.5:c.90G>C, XM_005277723.4:c.90G>C, XM_005277723.3:c.90G>C, XM_005277723.2:c.90G>C, XM_005277723.1:c.90G>C, XM_006718913.4:c.90G>C, XM_006718913.3:c.90G>C, XM_006718913.2:c.90G>C, XM_006718913.1:c.90G>C, XM_017018314.3:c.90G>C, XM_017018314.2:c.90G>C, XM_017018314.1:c.90G>C, XR_001747967.3:n.189G>C, XR_001747967.2:n.178G>C, XR_001747967.1:n.189G>C, XR_001747968.3:n.189G>C, XR_001747968.2:n.178G>C, XR_001747968.1:n.189G>C, XM_024448695.2:c.90G>C, XM_024448695.1:c.90G>C, XR_007062503.1:n.189G>C, XM_047427609.1:c.90G>C

      3.

      rs1484179336 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        11:111868611 (GRCh38)
        11:111739334 (GRCh37)
        Canonical SPDI:
        NC_000011.10:111868610:T:A,NC_000011.10:111868610:T:C
        Gene:
        ALG9 (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000028/1 (ALFA)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000011.10:g.111868611T>A, NC_000011.10:g.111868611T>C, NC_000011.9:g.111739334T>A, NC_000011.9:g.111739334T>C, NG_009210.2:g.7970A>T, NG_009210.2:g.7970A>G, NG_009210.1:g.7971A>T, NG_009210.1:g.7971A>G, NR_147984.2:n.792A>T, NR_147984.2:n.792A>G, NR_147984.1:n.772A>T, NR_147984.1:n.772A>G, NM_001352422.2:c.-336A>T, NM_001352422.2:c.-336A>G, NM_001352422.1:c.-336A>T, NM_001352422.1:c.-336A>G, NM_001352420.2:c.-118A>T, NM_001352420.2:c.-118A>G, NM_001352420.1:c.-118A>T, NM_001352420.1:c.-118A>G, NM_001352421.2:c.-118A>T, NM_001352421.2:c.-118A>G, NM_001352421.1:c.-118A>T, NM_001352421.1:c.-118A>G, NM_001077691.2:c.-118A>T, NM_001077691.2:c.-118A>G, NM_001077691.1:c.-118A>T, NM_001077691.1:c.-118A>G, NM_001352411.2:c.-118A>T, NM_001352411.2:c.-118A>G, NM_001352411.1:c.-118A>T, NM_001352411.1:c.-118A>G, NM_001077692.2:c.-118A>T, NM_001077692.2:c.-118A>G, NM_001077692.1:c.-118A>T, NM_001077692.1:c.-118A>G, NM_001352423.2:c.-118A>T, NM_001352423.2:c.-118A>G, NM_001352423.1:c.-118A>T, NM_001352423.1:c.-118A>G, NM_001352414.2:c.-118A>T, NM_001352414.2:c.-118A>G, NM_001352414.1:c.-118A>T, NM_001352414.1:c.-118A>G, NM_001352412.2:c.-118A>T, NM_001352412.2:c.-118A>G, NM_001352412.1:c.-118A>T, NM_001352412.1:c.-118A>G, NM_024740.2:c.396A>T, NM_024740.2:c.396A>G, NM_001352413.1:c.-118A>T, NM_001352413.1:c.-118A>G, NM_001352410.1:c.-118A>T, NM_001352410.1:c.-118A>G, NM_001077690.1:c.396A>T, NM_001077690.1:c.396A>G, NM_001352419.1:c.-118A>T, NM_001352419.1:c.-118A>G, NM_001352415.1:c.-118A>T, NM_001352415.1:c.-118A>G, NM_001352416.1:c.-118A>T, NM_001352416.1:c.-118A>G, NM_001352418.1:c.396A>T, NM_001352418.1:c.396A>G, NM_001352409.1:c.-118A>T, NM_001352409.1:c.-118A>G, NM_001352417.1:c.396A>T, NM_001352417.1:c.396A>G, NW_003871080.1:g.120602T>A, NW_003871080.1:g.120602T>C, XM_005277723.6:c.396A>T, XM_005277723.6:c.396A>G, XM_005277723.5:c.396A>T, XM_005277723.5:c.396A>G, XM_005277723.4:c.396A>T, XM_005277723.4:c.396A>G, XM_005277723.3:c.396A>T, XM_005277723.3:c.396A>G, XM_005277723.2:c.396A>T, XM_005277723.2:c.396A>G, XM_005277723.1:c.396A>T, XM_005277723.1:c.396A>G, XM_006718913.4:c.396A>T, XM_006718913.4:c.396A>G, XM_006718913.3:c.396A>T, XM_006718913.3:c.396A>G, XM_006718913.2:c.396A>T, XM_006718913.2:c.396A>G, XM_006718913.1:c.396A>T, XM_006718913.1:c.396A>G, XM_017018314.3:c.396A>T, XM_017018314.3:c.396A>G, XM_017018314.2:c.396A>T, XM_017018314.2:c.396A>G, XM_017018314.1:c.396A>T, XM_017018314.1:c.396A>G, XR_001747967.3:n.495A>T, XR_001747967.3:n.495A>G, XR_001747967.2:n.484A>T, XR_001747967.2:n.484A>G, XR_001747967.1:n.495A>T, XR_001747967.1:n.495A>G, XR_001747968.3:n.495A>T, XR_001747968.3:n.495A>G, XR_001747968.2:n.484A>T, XR_001747968.2:n.484A>G, XR_001747968.1:n.495A>T, XR_001747968.1:n.495A>G, XM_024448695.2:c.396A>T, XM_024448695.2:c.396A>G, XM_024448695.1:c.396A>T, XM_024448695.1:c.396A>G, XR_001747974.2:n.630A>T, XR_001747974.2:n.630A>G, XR_001747974.1:n.612A>T, XR_001747974.1:n.612A>G, XR_007062504.1:n.626A>T, XR_007062504.1:n.626A>G, XR_007062503.1:n.495A>T, XR_007062503.1:n.495A>G, XM_047427609.1:c.396A>T, XM_047427609.1:c.396A>G, NP_079016.2:p.Gln132His, NP_001071158.1:p.Gln132His, NP_001339347.1:p.Gln132His, NP_001339346.1:p.Gln132His, XP_005277780.1:p.Gln132His, XP_006718976.1:p.Gln132His, XP_016873803.1:p.Gln132His, XP_024304463.1:p.Gln132His, XP_047283565.1:p.Gln132His

        4.

        rs1481046325 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:111838323 (GRCh38)
          11:111709046 (GRCh37)
          Canonical SPDI:
          NC_000011.10:111838322:G:A
          Gene:
          ALG9 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000011.10:g.111838323G>A, NC_000011.9:g.111709046G>A, NG_009210.2:g.38258C>T, NG_009210.1:g.38259C>T, NR_147984.2:n.1646C>T, NR_147984.1:n.1626C>T, NM_001352422.2:c.641C>T, NM_001352422.1:c.641C>T, NM_001352420.2:c.716C>T, NM_001352420.1:c.716C>T, NM_001352421.2:c.716C>T, NM_001352421.1:c.716C>T, NM_001077691.2:c.737C>T, NM_001077691.1:c.737C>T, NM_001352411.2:c.716C>T, NM_001352411.1:c.716C>T, NM_001077692.2:c.716C>T, NM_001077692.1:c.716C>T, NM_001352423.2:c.593C>T, NM_001352423.1:c.593C>T, NM_001352414.2:c.737C>T, NM_001352414.1:c.737C>T, NM_001352412.2:c.716C>T, NM_001352412.1:c.716C>T, NM_024740.2:c.1250C>T, NM_001352419.1:c.737C>T, NM_001352415.1:c.716C>T, NM_001352416.1:c.716C>T, NM_001352413.1:c.737C>T, NM_001352410.1:c.716C>T, NM_001077690.1:c.1229C>T, NM_001352418.1:c.1106C>T, NM_001352409.1:c.716C>T, NM_001352417.1:c.1229C>T, NW_003871080.1:g.90314G>A, XM_005277723.6:c.1250C>T, XM_005277723.5:c.1250C>T, XM_005277723.4:c.1250C>T, XM_005277723.3:c.1250C>T, XM_005277723.2:c.1250C>T, XM_005277723.1:c.1250C>T, XM_006718913.4:c.1250C>T, XM_006718913.3:c.1250C>T, XM_006718913.2:c.1250C>T, XM_006718913.1:c.1250C>T, XM_017018314.3:c.1127C>T, XM_017018314.2:c.1127C>T, XM_017018314.1:c.1127C>T, XR_001747967.3:n.1349C>T, XR_001747967.2:n.1338C>T, XR_001747967.1:n.1349C>T, XR_001747968.3:n.1328C>T, XR_001747968.2:n.1317C>T, XR_001747968.1:n.1328C>T, XM_024448695.2:c.1229C>T, XM_024448695.1:c.1229C>T, XR_001747974.2:n.1484C>T, XR_001747974.1:n.1466C>T, XR_001747977.2:n.1158C>T, XR_001747977.1:n.802C>T, XR_007062504.1:n.1480C>T, XR_007062503.1:n.1226C>T, XM_047427609.1:c.1074C>T, NP_001339351.1:p.Ser214Leu, NP_001339349.1:p.Ser239Leu, NP_001339350.1:p.Ser239Leu, NP_001071159.1:p.Ser246Leu, NP_001339340.1:p.Ser239Leu, NP_001071160.1:p.Ser239Leu, NP_001339352.1:p.Ser198Leu, NP_001339343.1:p.Ser246Leu, NP_001339341.1:p.Ser239Leu, NP_079016.2:p.Ser417Leu, NP_001339348.1:p.Ser246Leu, NP_001339344.1:p.Ser239Leu, NP_001339345.1:p.Ser239Leu, NP_001339342.1:p.Ser246Leu, NP_001339339.1:p.Ser239Leu, NP_001071158.1:p.Ser410Leu, NP_001339347.1:p.Ser369Leu, NP_001339338.1:p.Ser239Leu, NP_001339346.1:p.Ser410Leu, XP_005277780.1:p.Ser417Leu, XP_006718976.1:p.Ser417Leu, XP_016873803.1:p.Ser376Leu, XP_024304463.1:p.Ser410Leu

          5.

          rs1479591688 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            11:111840806 (GRCh38)
            11:111711529 (GRCh37)
            Canonical SPDI:
            NC_000011.10:111840805:T:C
            Gene:
            ALG9 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000011.10:g.111840806T>C, NC_000011.9:g.111711529T>C, NG_009210.2:g.35775A>G, NG_009210.1:g.35776A>G, NR_147984.2:n.1418A>G, NR_147984.1:n.1398A>G, NM_001352422.2:c.434A>G, NM_001352422.1:c.434A>G, NM_001352420.2:c.509A>G, NM_001352420.1:c.509A>G, NM_001352421.2:c.509A>G, NM_001352421.1:c.509A>G, NM_001077691.2:c.509A>G, NM_001077691.1:c.509A>G, NM_001352411.2:c.509A>G, NM_001352411.1:c.509A>G, NM_001077692.2:c.509A>G, NM_001077692.1:c.509A>G, NM_001352423.2:c.386A>G, NM_001352423.1:c.386A>G, NM_001352414.2:c.509A>G, NM_001352414.1:c.509A>G, NM_001352412.2:c.509A>G, NM_001352412.1:c.509A>G, NM_024740.2:c.1022A>G, NM_001352419.1:c.509A>G, NM_001352415.1:c.509A>G, NM_001352416.1:c.509A>G, NM_001352413.1:c.509A>G, NM_001352410.1:c.509A>G, NM_001077690.1:c.1022A>G, NM_001352418.1:c.899A>G, NM_001352409.1:c.509A>G, NM_001352417.1:c.1022A>G, NW_003871080.1:g.92797T>C, XM_005277723.6:c.1022A>G, XM_005277723.5:c.1022A>G, XM_005277723.4:c.1022A>G, XM_005277723.3:c.1022A>G, XM_005277723.2:c.1022A>G, XM_005277723.1:c.1022A>G, XM_006718913.4:c.1022A>G, XM_006718913.3:c.1022A>G, XM_006718913.2:c.1022A>G, XM_006718913.1:c.1022A>G, XM_017018314.3:c.899A>G, XM_017018314.2:c.899A>G, XM_017018314.1:c.899A>G, XR_001747967.3:n.1121A>G, XR_001747967.2:n.1110A>G, XR_001747967.1:n.1121A>G, XR_001747968.3:n.1121A>G, XR_001747968.2:n.1110A>G, XR_001747968.1:n.1121A>G, XM_024448695.2:c.1022A>G, XM_024448695.1:c.1022A>G, XR_001747974.2:n.1256A>G, XR_001747974.1:n.1238A>G, XR_001747977.2:n.930A>G, XR_001747977.1:n.574A>G, XR_007062504.1:n.1252A>G, XR_007062503.1:n.998A>G, NP_001339351.1:p.Gln145Arg, NP_001339349.1:p.Gln170Arg, NP_001339350.1:p.Gln170Arg, NP_001071159.1:p.Gln170Arg, NP_001339340.1:p.Gln170Arg, NP_001071160.1:p.Gln170Arg, NP_001339352.1:p.Gln129Arg, NP_001339343.1:p.Gln170Arg, NP_001339341.1:p.Gln170Arg, NP_079016.2:p.Gln341Arg, NP_001339348.1:p.Gln170Arg, NP_001339344.1:p.Gln170Arg, NP_001339345.1:p.Gln170Arg, NP_001339342.1:p.Gln170Arg, NP_001339339.1:p.Gln170Arg, NP_001071158.1:p.Gln341Arg, NP_001339347.1:p.Gln300Arg, NP_001339338.1:p.Gln170Arg, NP_001339346.1:p.Gln341Arg, XP_005277780.1:p.Gln341Arg, XP_006718976.1:p.Gln341Arg, XP_016873803.1:p.Gln300Arg, XP_024304463.1:p.Gln341Arg

            6.

            rs1477879260 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              11:111857699 (GRCh38)
              11:111728422 (GRCh37)
              Canonical SPDI:
              NC_000011.10:111857698:T:G
              Gene:
              ALG9 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.111857699T>G, NC_000011.9:g.111728422T>G, NG_009210.2:g.18882A>C, NG_009210.1:g.18883A>C, NR_147984.2:n.1000A>C, NR_147984.1:n.980A>C, NM_001352422.2:c.16A>C, NM_001352422.1:c.16A>C, NM_001352420.2:c.91A>C, NM_001352420.1:c.91A>C, NM_001352421.2:c.91A>C, NM_001352421.1:c.91A>C, NM_001077691.2:c.91A>C, NM_001077691.1:c.91A>C, NM_001352411.2:c.91A>C, NM_001352411.1:c.91A>C, NM_001077692.2:c.91A>C, NM_001077692.1:c.91A>C, NM_001352423.2:c.91A>C, NM_001352423.1:c.91A>C, NM_001352414.2:c.91A>C, NM_001352414.1:c.91A>C, NM_001352412.2:c.91A>C, NM_001352412.1:c.91A>C, NM_024740.2:c.604A>C, NM_001352419.1:c.91A>C, NM_001352415.1:c.91A>C, NM_001352416.1:c.91A>C, NM_001352413.1:c.91A>C, NM_001352410.1:c.91A>C, NM_001077690.1:c.604A>C, NM_001352418.1:c.604A>C, NM_001352409.1:c.91A>C, NM_001352417.1:c.604A>C, NW_003871080.1:g.109690T>G, XM_005277723.6:c.604A>C, XM_005277723.5:c.604A>C, XM_005277723.4:c.604A>C, XM_005277723.3:c.604A>C, XM_005277723.2:c.604A>C, XM_005277723.1:c.604A>C, XM_006718913.4:c.604A>C, XM_006718913.3:c.604A>C, XM_006718913.2:c.604A>C, XM_006718913.1:c.604A>C, XM_017018314.3:c.604A>C, XM_017018314.2:c.604A>C, XM_017018314.1:c.604A>C, XR_001747967.3:n.703A>C, XR_001747967.2:n.692A>C, XR_001747967.1:n.703A>C, XR_001747968.3:n.703A>C, XR_001747968.2:n.692A>C, XR_001747968.1:n.703A>C, XM_024448695.2:c.604A>C, XM_024448695.1:c.604A>C, XR_001747974.2:n.838A>C, XR_001747974.1:n.820A>C, XR_001747977.2:n.512A>C, XR_001747977.1:n.156A>C, XR_007062504.1:n.834A>C, XR_007062503.1:n.703A>C, XM_047427609.1:c.604A>C, NP_001339351.1:p.Ile6Leu, NP_001339349.1:p.Ile31Leu, NP_001339350.1:p.Ile31Leu, NP_001071159.1:p.Ile31Leu, NP_001339340.1:p.Ile31Leu, NP_001071160.1:p.Ile31Leu, NP_001339352.1:p.Ile31Leu, NP_001339343.1:p.Ile31Leu, NP_001339341.1:p.Ile31Leu, NP_079016.2:p.Ile202Leu, NP_001339348.1:p.Ile31Leu, NP_001339344.1:p.Ile31Leu, NP_001339345.1:p.Ile31Leu, NP_001339342.1:p.Ile31Leu, NP_001339339.1:p.Ile31Leu, NP_001071158.1:p.Ile202Leu, NP_001339347.1:p.Ile202Leu, NP_001339338.1:p.Ile31Leu, NP_001339346.1:p.Ile202Leu, XP_005277780.1:p.Ile202Leu, XP_006718976.1:p.Ile202Leu, XP_016873803.1:p.Ile202Leu, XP_024304463.1:p.Ile202Leu, XP_047283565.1:p.Ile202Leu

              7.

              rs1477873457 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                11:111871364 (GRCh38)
                11:111742087 (GRCh37)
                Canonical SPDI:
                NC_000011.10:111871363:T:C
                Gene:
                ALG9 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000084/1 (ALFA)
                C=0.000007/1 (GnomAD)
                HGVS:
                NC_000011.10:g.111871364T>C, NW_003871080.1:g.123355T>C, NG_009210.2:g.5217A>G, NG_009210.1:g.5218A>G, NM_024740.2:c.119A>G, NM_001352413.1:c.-399A>G, NM_001352410.1:c.-399A>G, NM_001077690.1:c.119A>G, NM_001352418.1:c.119A>G, NM_001352409.1:c.-256A>G, NM_001352417.1:c.119A>G, NC_000011.9:g.111742087T>C, XM_005277723.6:c.119A>G, XM_005277723.5:c.119A>G, XM_005277723.4:c.119A>G, XM_005277723.3:c.119A>G, XM_005277723.2:c.119A>G, XM_005277723.1:c.119A>G, XM_006718913.4:c.119A>G, XM_006718913.3:c.119A>G, XM_006718913.2:c.119A>G, XM_006718913.1:c.119A>G, XM_017018314.3:c.119A>G, XM_017018314.2:c.119A>G, XM_017018314.1:c.119A>G, XR_001747967.3:n.218A>G, XR_001747967.2:n.207A>G, XR_001747967.1:n.218A>G, XR_001747968.3:n.218A>G, XR_001747968.2:n.207A>G, XR_001747968.1:n.218A>G, XM_024448695.2:c.119A>G, XM_024448695.1:c.119A>G, XR_007062503.1:n.218A>G, XM_047427609.1:c.119A>G, NP_079016.2:p.Glu40Gly, NP_001071158.1:p.Glu40Gly, NP_001339347.1:p.Glu40Gly, NP_001339346.1:p.Glu40Gly, XP_005277780.1:p.Glu40Gly, XP_006718976.1:p.Glu40Gly, XP_016873803.1:p.Glu40Gly, XP_024304463.1:p.Glu40Gly, XP_047283565.1:p.Glu40Gly

                8.

                rs1472127965 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:111838300 (GRCh38)
                  11:111709023 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:111838299:C:T
                  Gene:
                  ALG9 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000021/3 (GnomAD)
                  T=0.000026/7 (TOPMED)
                  HGVS:
                  NC_000011.10:g.111838300C>T, NC_000011.9:g.111709023C>T, NG_009210.2:g.38281G>A, NG_009210.1:g.38282G>A, NR_147984.2:n.1669G>A, NR_147984.1:n.1649G>A, NM_001352422.2:c.664G>A, NM_001352422.1:c.664G>A, NM_001352420.2:c.739G>A, NM_001352420.1:c.739G>A, NM_001352421.2:c.739G>A, NM_001352421.1:c.739G>A, NM_001077691.2:c.760G>A, NM_001077691.1:c.760G>A, NM_001352411.2:c.739G>A, NM_001352411.1:c.739G>A, NM_001077692.2:c.739G>A, NM_001077692.1:c.739G>A, NM_001352423.2:c.616G>A, NM_001352423.1:c.616G>A, NM_001352414.2:c.760G>A, NM_001352414.1:c.760G>A, NM_001352412.2:c.739G>A, NM_001352412.1:c.739G>A, NM_024740.2:c.1273G>A, NM_001352419.1:c.760G>A, NM_001352415.1:c.739G>A, NM_001352416.1:c.739G>A, NM_001352413.1:c.760G>A, NM_001352410.1:c.739G>A, NM_001077690.1:c.1252G>A, NM_001352418.1:c.1129G>A, NM_001352409.1:c.739G>A, NM_001352417.1:c.1252G>A, NW_003871080.1:g.90291C>T, XM_005277723.6:c.1273G>A, XM_005277723.5:c.1273G>A, XM_005277723.4:c.1273G>A, XM_005277723.3:c.1273G>A, XM_005277723.2:c.1273G>A, XM_005277723.1:c.1273G>A, XM_006718913.4:c.1273G>A, XM_006718913.3:c.1273G>A, XM_006718913.2:c.1273G>A, XM_006718913.1:c.1273G>A, XM_017018314.3:c.1150G>A, XM_017018314.2:c.1150G>A, XM_017018314.1:c.1150G>A, XR_001747967.3:n.1372G>A, XR_001747967.2:n.1361G>A, XR_001747967.1:n.1372G>A, XR_001747968.3:n.1351G>A, XR_001747968.2:n.1340G>A, XR_001747968.1:n.1351G>A, XM_024448695.2:c.1252G>A, XM_024448695.1:c.1252G>A, XR_001747974.2:n.1507G>A, XR_001747974.1:n.1489G>A, XR_001747977.2:n.1181G>A, XR_001747977.1:n.825G>A, XR_007062504.1:n.1503G>A, XR_007062503.1:n.1249G>A, XM_047427609.1:c.1097G>A, NP_001339351.1:p.Val222Ile, NP_001339349.1:p.Val247Ile, NP_001339350.1:p.Val247Ile, NP_001071159.1:p.Val254Ile, NP_001339340.1:p.Val247Ile, NP_001071160.1:p.Val247Ile, NP_001339352.1:p.Val206Ile, NP_001339343.1:p.Val254Ile, NP_001339341.1:p.Val247Ile, NP_079016.2:p.Val425Ile, NP_001339348.1:p.Val254Ile, NP_001339344.1:p.Val247Ile, NP_001339345.1:p.Val247Ile, NP_001339342.1:p.Val254Ile, NP_001339339.1:p.Val247Ile, NP_001071158.1:p.Val418Ile, NP_001339347.1:p.Val377Ile, NP_001339338.1:p.Val247Ile, NP_001339346.1:p.Val418Ile, XP_005277780.1:p.Val425Ile, XP_006718976.1:p.Val425Ile, XP_016873803.1:p.Val384Ile, XP_024304463.1:p.Val418Ile, XP_047283565.1:p.Cys366Tyr

                  9.

                  rs1472089174 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    11:111870243 (GRCh38)
                    11:111740966 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:111870242:A:G
                    Gene:
                    ALG9 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    HGVS:
                    NC_000011.10:g.111870243A>G, NC_000011.9:g.111740966A>G, NG_009210.2:g.6338T>C, NG_009210.1:g.6339T>C, NR_147984.2:n.655T>C, NR_147984.1:n.635T>C, NM_001352422.2:c.-473T>C, NM_001352422.1:c.-473T>C, NM_001352420.2:c.-255T>C, NM_001352420.1:c.-255T>C, NM_001352421.2:c.-255T>C, NM_001352421.1:c.-255T>C, NM_001077691.2:c.-255T>C, NM_001077691.1:c.-255T>C, NM_001352411.2:c.-259T>C, NM_001352411.1:c.-259T>C, NM_001077692.2:c.-255T>C, NM_001077692.1:c.-255T>C, NM_001352423.2:c.-259T>C, NM_001352423.1:c.-259T>C, NM_001352414.2:c.-255T>C, NM_001352414.1:c.-255T>C, NM_001352412.2:c.-255T>C, NM_001352412.1:c.-255T>C, NM_024740.2:c.259T>C, NM_001352413.1:c.-259T>C, NM_001352410.1:c.-259T>C, NM_001077690.1:c.259T>C, NM_001352419.1:c.-255T>C, NM_001352415.1:c.-259T>C, NM_001352416.1:c.-255T>C, NM_001352418.1:c.259T>C, NM_001352417.1:c.259T>C, NW_003871080.1:g.122234A>G, XM_005277723.6:c.259T>C, XM_005277723.5:c.259T>C, XM_005277723.4:c.259T>C, XM_005277723.3:c.259T>C, XM_005277723.2:c.259T>C, XM_005277723.1:c.259T>C, XM_006718913.4:c.259T>C, XM_006718913.3:c.259T>C, XM_006718913.2:c.259T>C, XM_006718913.1:c.259T>C, XM_017018314.3:c.259T>C, XM_017018314.2:c.259T>C, XM_017018314.1:c.259T>C, XR_001747967.3:n.358T>C, XR_001747967.2:n.347T>C, XR_001747967.1:n.358T>C, XR_001747968.3:n.358T>C, XR_001747968.2:n.347T>C, XR_001747968.1:n.358T>C, XM_024448695.2:c.259T>C, XM_024448695.1:c.259T>C, XR_001747974.2:n.489T>C, XR_001747974.1:n.471T>C, XR_007062504.1:n.489T>C, XR_007062503.1:n.358T>C, XM_047427609.1:c.259T>C, NP_079016.2:p.Tyr87His, NP_001071158.1:p.Tyr87His, NP_001339347.1:p.Tyr87His, NP_001339346.1:p.Tyr87His, XP_005277780.1:p.Tyr87His, XP_006718976.1:p.Tyr87His, XP_016873803.1:p.Tyr87His, XP_024304463.1:p.Tyr87His, XP_047283565.1:p.Tyr87His

                    10.

                    rs1469906563 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      11:111853463 (GRCh38)
                      11:111724186 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:111853462:C:G,NC_000011.10:111853462:C:T
                      Gene:
                      ALG9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000011.10:g.111853463C>G, NC_000011.10:g.111853463C>T, NC_000011.9:g.111724186C>G, NC_000011.9:g.111724186C>T, NG_009210.2:g.23118G>C, NG_009210.2:g.23118G>A, NG_009210.1:g.23119G>C, NG_009210.1:g.23119G>A, NR_147984.2:n.1208G>C, NR_147984.2:n.1208G>A, NR_147984.1:n.1188G>C, NR_147984.1:n.1188G>A, NM_001352422.2:c.224G>C, NM_001352422.2:c.224G>A, NM_001352422.1:c.224G>C, NM_001352422.1:c.224G>A, NM_001352420.2:c.299G>C, NM_001352420.2:c.299G>A, NM_001352420.1:c.299G>C, NM_001352420.1:c.299G>A, NM_001352421.2:c.299G>C, NM_001352421.2:c.299G>A, NM_001352421.1:c.299G>C, NM_001352421.1:c.299G>A, NM_001077691.2:c.299G>C, NM_001077691.2:c.299G>A, NM_001077691.1:c.299G>C, NM_001077691.1:c.299G>A, NM_001352411.2:c.299G>C, NM_001352411.2:c.299G>A, NM_001352411.1:c.299G>C, NM_001352411.1:c.299G>A, NM_001077692.2:c.299G>C, NM_001077692.2:c.299G>A, NM_001077692.1:c.299G>C, NM_001077692.1:c.299G>A, NM_001352423.2:c.299G>C, NM_001352423.2:c.299G>A, NM_001352423.1:c.299G>C, NM_001352423.1:c.299G>A, NM_001352414.2:c.299G>C, NM_001352414.2:c.299G>A, NM_001352414.1:c.299G>C, NM_001352414.1:c.299G>A, NM_001352412.2:c.299G>C, NM_001352412.2:c.299G>A, NM_001352412.1:c.299G>C, NM_001352412.1:c.299G>A, NM_024740.2:c.812G>C, NM_024740.2:c.812G>A, NM_001352419.1:c.299G>C, NM_001352419.1:c.299G>A, NM_001352415.1:c.299G>C, NM_001352415.1:c.299G>A, NM_001352416.1:c.299G>C, NM_001352416.1:c.299G>A, NM_001352413.1:c.299G>C, NM_001352413.1:c.299G>A, NM_001352410.1:c.299G>C, NM_001352410.1:c.299G>A, NM_001077690.1:c.812G>C, NM_001077690.1:c.812G>A, NM_001352418.1:c.812G>C, NM_001352418.1:c.812G>A, NM_001352409.1:c.299G>C, NM_001352409.1:c.299G>A, NM_001352417.1:c.812G>C, NM_001352417.1:c.812G>A, NW_003871080.1:g.105454C>G, NW_003871080.1:g.105454C>T, XM_005277723.6:c.812G>C, XM_005277723.6:c.812G>A, XM_005277723.5:c.812G>C, XM_005277723.5:c.812G>A, XM_005277723.4:c.812G>C, XM_005277723.4:c.812G>A, XM_005277723.3:c.812G>C, XM_005277723.3:c.812G>A, XM_005277723.2:c.812G>C, XM_005277723.2:c.812G>A, XM_005277723.1:c.812G>C, XM_005277723.1:c.812G>A, XM_006718913.4:c.812G>C, XM_006718913.4:c.812G>A, XM_006718913.3:c.812G>C, XM_006718913.3:c.812G>A, XM_006718913.2:c.812G>C, XM_006718913.2:c.812G>A, XM_006718913.1:c.812G>C, XM_006718913.1:c.812G>A, XM_017018314.3:c.812G>C, XM_017018314.3:c.812G>A, XM_017018314.2:c.812G>C, XM_017018314.2:c.812G>A, XM_017018314.1:c.812G>C, XM_017018314.1:c.812G>A, XR_001747967.3:n.911G>C, XR_001747967.3:n.911G>A, XR_001747967.2:n.900G>C, XR_001747967.2:n.900G>A, XR_001747967.1:n.911G>C, XR_001747967.1:n.911G>A, XR_001747968.3:n.911G>C, XR_001747968.3:n.911G>A, XR_001747968.2:n.900G>C, XR_001747968.2:n.900G>A, XR_001747968.1:n.911G>C, XR_001747968.1:n.911G>A, XM_024448695.2:c.812G>C, XM_024448695.2:c.812G>A, XM_024448695.1:c.812G>C, XM_024448695.1:c.812G>A, XR_001747974.2:n.1046G>C, XR_001747974.2:n.1046G>A, XR_001747974.1:n.1028G>C, XR_001747974.1:n.1028G>A, XR_001747977.2:n.720G>C, XR_001747977.2:n.720G>A, XR_001747977.1:n.364G>C, XR_001747977.1:n.364G>A, XR_007062504.1:n.1042G>C, XR_007062504.1:n.1042G>A, XR_007062503.1:n.911G>C, XR_007062503.1:n.911G>A, XM_047427609.1:c.812G>C, XM_047427609.1:c.812G>A, NP_001339351.1:p.Ser75Thr, NP_001339351.1:p.Ser75Asn, NP_001339349.1:p.Ser100Thr, NP_001339349.1:p.Ser100Asn, NP_001339350.1:p.Ser100Thr, NP_001339350.1:p.Ser100Asn, NP_001071159.1:p.Ser100Thr, NP_001071159.1:p.Ser100Asn, NP_001339340.1:p.Ser100Thr, NP_001339340.1:p.Ser100Asn, NP_001071160.1:p.Ser100Thr, NP_001071160.1:p.Ser100Asn, NP_001339352.1:p.Ser100Thr, NP_001339352.1:p.Ser100Asn, NP_001339343.1:p.Ser100Thr, NP_001339343.1:p.Ser100Asn, NP_001339341.1:p.Ser100Thr, NP_001339341.1:p.Ser100Asn, NP_079016.2:p.Ser271Thr, NP_079016.2:p.Ser271Asn, NP_001339348.1:p.Ser100Thr, NP_001339348.1:p.Ser100Asn, NP_001339344.1:p.Ser100Thr, NP_001339344.1:p.Ser100Asn, NP_001339345.1:p.Ser100Thr, NP_001339345.1:p.Ser100Asn, NP_001339342.1:p.Ser100Thr, NP_001339342.1:p.Ser100Asn, NP_001339339.1:p.Ser100Thr, NP_001339339.1:p.Ser100Asn, NP_001071158.1:p.Ser271Thr, NP_001071158.1:p.Ser271Asn, NP_001339347.1:p.Ser271Thr, NP_001339347.1:p.Ser271Asn, NP_001339338.1:p.Ser100Thr, NP_001339338.1:p.Ser100Asn, NP_001339346.1:p.Ser271Thr, NP_001339346.1:p.Ser271Asn, XP_005277780.1:p.Ser271Thr, XP_005277780.1:p.Ser271Asn, XP_006718976.1:p.Ser271Thr, XP_006718976.1:p.Ser271Asn, XP_016873803.1:p.Ser271Thr, XP_016873803.1:p.Ser271Asn, XP_024304463.1:p.Ser271Thr, XP_024304463.1:p.Ser271Asn, XP_047283565.1:p.Ser271Thr, XP_047283565.1:p.Ser271Asn

                      11.

                      rs1461283997 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        11:111837548 (GRCh38)
                        11:111708271 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:111837547:A:T
                        Gene:
                        ALG9 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000014/2 (GnomAD)
                        T=0.000019/5 (TOPMED)
                        T=0.000036/9 (GnomAD_exomes)
                        HGVS:
                        NC_000011.10:g.111837548A>T, NC_000011.9:g.111708271A>T, NG_009210.2:g.39033T>A, NG_009210.1:g.39034T>A, NR_147984.2:n.1788T>A, NR_147984.1:n.1768T>A, NM_001352422.2:c.783T>A, NM_001352422.1:c.783T>A, NM_001352420.2:c.858T>A, NM_001352420.1:c.858T>A, NM_001352421.2:c.858T>A, NM_001352421.1:c.858T>A, NM_001077691.2:c.879T>A, NM_001077691.1:c.879T>A, NM_001352411.2:c.858T>A, NM_001352411.1:c.858T>A, NM_001077692.2:c.858T>A, NM_001077692.1:c.858T>A, NM_001352423.2:c.735T>A, NM_001352423.1:c.735T>A, NM_001352414.2:c.879T>A, NM_001352414.1:c.879T>A, NM_001352412.2:c.858T>A, NM_001352412.1:c.858T>A, NM_024740.2:c.1392T>A, NM_001352419.1:c.879T>A, NM_001352415.1:c.858T>A, NM_001352416.1:c.858T>A, NM_001352413.1:c.879T>A, NM_001352410.1:c.858T>A, NM_001077690.1:c.1371T>A, NM_001352418.1:c.1248T>A, NM_001352409.1:c.858T>A, NM_001352417.1:c.1371T>A, NW_003871080.1:g.89539A>T, XM_005277723.6:c.1392T>A, XM_005277723.5:c.1392T>A, XM_005277723.4:c.1392T>A, XM_005277723.3:c.1392T>A, XM_005277723.2:c.1392T>A, XM_005277723.1:c.1392T>A, XM_006718913.4:c.1392T>A, XM_006718913.3:c.1392T>A, XM_006718913.2:c.1392T>A, XM_006718913.1:c.1392T>A, XM_017018314.3:c.1269T>A, XM_017018314.2:c.1269T>A, XM_017018314.1:c.1269T>A, XR_001747967.3:n.1491T>A, XR_001747967.2:n.1480T>A, XR_001747967.1:n.1491T>A, XR_001747968.3:n.1470T>A, XR_001747968.2:n.1459T>A, XR_001747968.1:n.1470T>A, XM_024448695.2:c.1371T>A, XM_024448695.1:c.1371T>A, XR_001747974.2:n.1626T>A, XR_001747974.1:n.1608T>A, XR_001747977.2:n.1300T>A, XR_001747977.1:n.944T>A, XR_007062504.1:n.1622T>A, XR_007062503.1:n.1368T>A, XM_047427609.1:c.*49T>A

                        12.

                        rs1460655202 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          11:111844624 (GRCh38)
                          11:111715347 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:111844623:T:C
                          Gene:
                          ALG9 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000011.10:g.111844624T>C, NC_000011.9:g.111715347T>C, NG_009210.2:g.31957A>G, NG_009210.1:g.31958A>G, NR_147984.2:n.1391A>G, NR_147984.1:n.1371A>G, NM_001352422.2:c.407A>G, NM_001352422.1:c.407A>G, NM_001352420.2:c.482A>G, NM_001352420.1:c.482A>G, NM_001352421.2:c.482A>G, NM_001352421.1:c.482A>G, NM_001077691.2:c.482A>G, NM_001077691.1:c.482A>G, NM_001352411.2:c.482A>G, NM_001352411.1:c.482A>G, NM_001077692.2:c.482A>G, NM_001077692.1:c.482A>G, NM_001352414.2:c.482A>G, NM_001352414.1:c.482A>G, NM_001352412.2:c.482A>G, NM_001352412.1:c.482A>G, NM_024740.2:c.995A>G, NM_001352419.1:c.482A>G, NM_001352415.1:c.482A>G, NM_001352416.1:c.482A>G, NM_001352413.1:c.482A>G, NM_001352410.1:c.482A>G, NM_001077690.1:c.995A>G, NM_001352409.1:c.482A>G, NM_001352417.1:c.995A>G, NW_003871080.1:g.96615T>C, XM_005277723.6:c.995A>G, XM_005277723.5:c.995A>G, XM_005277723.4:c.995A>G, XM_005277723.3:c.995A>G, XM_005277723.2:c.995A>G, XM_005277723.1:c.995A>G, XM_006718913.4:c.995A>G, XM_006718913.3:c.995A>G, XM_006718913.2:c.995A>G, XM_006718913.1:c.995A>G, XR_001747967.3:n.1094A>G, XR_001747967.2:n.1083A>G, XR_001747967.1:n.1094A>G, XR_001747968.3:n.1094A>G, XR_001747968.2:n.1083A>G, XR_001747968.1:n.1094A>G, XM_024448695.2:c.995A>G, XM_024448695.1:c.995A>G, XR_001747974.2:n.1229A>G, XR_001747974.1:n.1211A>G, XR_001747977.2:n.903A>G, XR_001747977.1:n.547A>G, XR_007062504.1:n.1225A>G, XM_047427609.1:c.995A>G, NP_001339351.1:p.Glu136Gly, NP_001339349.1:p.Glu161Gly, NP_001339350.1:p.Glu161Gly, NP_001071159.1:p.Glu161Gly, NP_001339340.1:p.Glu161Gly, NP_001071160.1:p.Glu161Gly, NP_001339343.1:p.Glu161Gly, NP_001339341.1:p.Glu161Gly, NP_079016.2:p.Glu332Gly, NP_001339348.1:p.Glu161Gly, NP_001339344.1:p.Glu161Gly, NP_001339345.1:p.Glu161Gly, NP_001339342.1:p.Glu161Gly, NP_001339339.1:p.Glu161Gly, NP_001071158.1:p.Glu332Gly, NP_001339338.1:p.Glu161Gly, NP_001339346.1:p.Glu332Gly, XP_005277780.1:p.Glu332Gly, XP_006718976.1:p.Glu332Gly, XP_024304463.1:p.Glu332Gly, XP_047283565.1:p.Glu332Gly

                          13.

                          rs1457914220 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            11:111786488 (GRCh38)
                            11:111657212 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:111786487:G:A,NC_000011.10:111786487:G:C
                            Gene:
                            ALG9 (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000019/5 (TOPMED)
                            C=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000011.10:g.111786488G>A, NC_000011.10:g.111786488G>C, NC_000011.9:g.111657212G>A, NC_000011.9:g.111657212G>C, NG_009210.2:g.90093C>T, NG_009210.2:g.90093C>G, NG_009210.1:g.90093C>T, NG_009210.1:g.90093C>G, NR_147984.2:n.2384C>T, NR_147984.2:n.2384C>G, NR_147984.1:n.2364C>T, NR_147984.1:n.2364C>G, NM_001352422.2:c.1157C>T, NM_001352422.2:c.1157C>G, NM_001352422.1:c.1157C>T, NM_001352422.1:c.1157C>G, NM_001352420.2:c.*38C>T, NM_001352420.2:c.*38C>G, NM_001352420.1:c.*38C>T, NM_001352420.1:c.*38C>G, NM_001352421.2:c.*32C>T, NM_001352421.2:c.*32C>G, NM_001352421.1:c.*32C>T, NM_001352421.1:c.*32C>G, NM_001077691.2:c.1253C>T, NM_001077691.2:c.1253C>G, NM_001077691.1:c.1253C>T, NM_001077691.1:c.1253C>G, NM_001352411.2:c.1232C>T, NM_001352411.2:c.1232C>G, NM_001352411.1:c.1232C>T, NM_001352411.1:c.1232C>G, NM_001077692.2:c.1232C>T, NM_001077692.2:c.1232C>G, NM_001077692.1:c.1232C>T, NM_001077692.1:c.1232C>G, NM_001352423.2:c.1109C>T, NM_001352423.2:c.1109C>G, NM_001352423.1:c.1109C>T, NM_001352423.1:c.1109C>G, NM_001352414.2:c.1253C>T, NM_001352414.2:c.1253C>G, NM_001352414.1:c.1253C>T, NM_001352414.1:c.1253C>G, NM_001352412.2:c.1232C>T, NM_001352412.2:c.1232C>G, NM_001352412.1:c.1232C>T, NM_001352412.1:c.1232C>G, NM_024740.2:c.1766C>T, NM_024740.2:c.1766C>G, NM_001352413.1:c.1253C>T, NM_001352413.1:c.1253C>G, NM_001352410.1:c.1232C>T, NM_001352410.1:c.1232C>G, NM_001077690.1:c.1745C>T, NM_001077690.1:c.1745C>G, NM_001352419.1:c.1253C>T, NM_001352419.1:c.1253C>G, NM_001352415.1:c.1232C>T, NM_001352415.1:c.1232C>G, NM_001352416.1:c.1232C>T, NM_001352416.1:c.1232C>G, NM_001352418.1:c.1622C>T, NM_001352418.1:c.1622C>G, NM_001352409.1:c.1232C>T, NM_001352409.1:c.1232C>G, NM_001352417.1:c.1745C>T, NM_001352417.1:c.1745C>G, NW_003871080.1:g.38480G>A, NW_003871080.1:g.38480G>C, XM_005277723.6:c.1766C>T, XM_005277723.6:c.1766C>G, XM_005277723.5:c.1766C>T, XM_005277723.5:c.1766C>G, XM_005277723.4:c.1766C>T, XM_005277723.4:c.1766C>G, XM_005277723.3:c.1766C>T, XM_005277723.3:c.1766C>G, XM_005277723.2:c.1766C>T, XM_005277723.2:c.1766C>G, XM_005277723.1:c.1766C>T, XM_005277723.1:c.1766C>G, XM_006718913.4:c.*32C>T, XM_006718913.4:c.*32C>G, XM_006718913.3:c.*32C>T, XM_006718913.3:c.*32C>G, XM_006718913.2:c.*32C>T, XM_006718913.2:c.*32C>G, XM_006718913.1:c.*32C>T, XM_006718913.1:c.*32C>G, XM_017018314.3:c.1643C>T, XM_017018314.3:c.1643C>G, XM_017018314.2:c.1643C>T, XM_017018314.2:c.1643C>G, XM_017018314.1:c.1643C>T, XM_017018314.1:c.1643C>G, XR_001747967.3:n.1865C>T, XR_001747967.3:n.1865C>G, XR_001747967.2:n.1854C>T, XR_001747967.2:n.1854C>G, XR_001747967.1:n.1865C>T, XR_001747967.1:n.1865C>G, XR_001747968.3:n.1844C>T, XR_001747968.3:n.1844C>G, XR_001747968.2:n.1833C>T, XR_001747968.2:n.1833C>G, XR_001747968.1:n.1844C>T, XR_001747968.1:n.1844C>G, XM_024448695.2:c.*32C>T, XM_024448695.2:c.*32C>G, XM_024448695.1:c.*32C>T, XM_024448695.1:c.*32C>G, XR_001747974.2:n.2000C>T, XR_001747974.2:n.2000C>G, XR_001747974.1:n.1982C>T, XR_001747974.1:n.1982C>G, XR_001747977.2:n.1674C>T, XR_001747977.2:n.1674C>G, XR_001747977.1:n.1318C>T, XR_001747977.1:n.1318C>G, XR_007062504.1:n.1996C>T, XR_007062504.1:n.1996C>G, XR_007062503.1:n.1742C>T, XR_007062503.1:n.1742C>G, NP_001339351.1:p.Pro386Leu, NP_001339351.1:p.Pro386Arg, NP_001071159.1:p.Pro418Leu, NP_001071159.1:p.Pro418Arg, NP_001339340.1:p.Pro411Leu, NP_001339340.1:p.Pro411Arg, NP_001071160.1:p.Pro411Leu, NP_001071160.1:p.Pro411Arg, NP_001339352.1:p.Pro370Leu, NP_001339352.1:p.Pro370Arg, NP_001339343.1:p.Pro418Leu, NP_001339343.1:p.Pro418Arg, NP_001339341.1:p.Pro411Leu, NP_001339341.1:p.Pro411Arg, NP_079016.2:p.Pro589Leu, NP_079016.2:p.Pro589Arg, NP_001339342.1:p.Pro418Leu, NP_001339342.1:p.Pro418Arg, NP_001339339.1:p.Pro411Leu, NP_001339339.1:p.Pro411Arg, NP_001071158.1:p.Pro582Leu, NP_001071158.1:p.Pro582Arg, NP_001339348.1:p.Pro418Leu, NP_001339348.1:p.Pro418Arg, NP_001339344.1:p.Pro411Leu, NP_001339344.1:p.Pro411Arg, NP_001339345.1:p.Pro411Leu, NP_001339345.1:p.Pro411Arg, NP_001339347.1:p.Pro541Leu, NP_001339347.1:p.Pro541Arg, NP_001339338.1:p.Pro411Leu, NP_001339338.1:p.Pro411Arg, NP_001339346.1:p.Pro582Leu, NP_001339346.1:p.Pro582Arg, XP_005277780.1:p.Pro589Leu, XP_005277780.1:p.Pro589Arg, XP_016873803.1:p.Pro548Leu, XP_016873803.1:p.Pro548Arg

                            14.

                            rs1457363391 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              11:111809658 (GRCh38)
                              11:111680382 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:111809657:A:C
                              Gene:
                              ALG9 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.111809658A>C, NC_000011.9:g.111680382A>C, NG_009210.2:g.66923T>G, NG_009210.1:g.66923T>G, NR_147984.2:n.2114T>G, NR_147984.1:n.2094T>G, NM_001352422.2:c.1109T>G, NM_001352422.1:c.1109T>G, NM_001352420.2:c.1184T>G, NM_001352420.1:c.1184T>G, NM_001352421.2:c.1184T>G, NM_001352421.1:c.1184T>G, NM_001077691.2:c.1205T>G, NM_001077691.1:c.1205T>G, NM_001352411.2:c.1184T>G, NM_001352411.1:c.1184T>G, NM_001077692.2:c.1184T>G, NM_001077692.1:c.1184T>G, NM_001352423.2:c.1061T>G, NM_001352423.1:c.1061T>G, NM_001352414.2:c.1205T>G, NM_001352414.1:c.1205T>G, NM_001352412.2:c.1184T>G, NM_001352412.1:c.1184T>G, NM_024740.2:c.1718T>G, NM_001352413.1:c.1205T>G, NM_001352410.1:c.1184T>G, NM_001077690.1:c.1697T>G, NM_001352419.1:c.1205T>G, NM_001352415.1:c.1184T>G, NM_001352416.1:c.1184T>G, NM_001352418.1:c.1574T>G, NM_001352409.1:c.1184T>G, NM_001352417.1:c.1697T>G, NW_003871080.1:g.61650A>C, XM_005277723.6:c.1718T>G, XM_005277723.5:c.1718T>G, XM_005277723.4:c.1718T>G, XM_005277723.3:c.1718T>G, XM_005277723.2:c.1718T>G, XM_005277723.1:c.1718T>G, XM_006718913.4:c.1718T>G, XM_006718913.3:c.1718T>G, XM_006718913.2:c.1718T>G, XM_006718913.1:c.1718T>G, XM_017018314.3:c.1595T>G, XM_017018314.2:c.1595T>G, XM_017018314.1:c.1595T>G, XR_001747967.3:n.1817T>G, XR_001747967.2:n.1806T>G, XR_001747967.1:n.1817T>G, XR_001747968.3:n.1796T>G, XR_001747968.2:n.1785T>G, XR_001747968.1:n.1796T>G, XM_024448695.2:c.1697T>G, XM_024448695.1:c.1697T>G, XR_001747974.2:n.1952T>G, XR_001747974.1:n.1934T>G, XR_001747977.2:n.1626T>G, XR_001747977.1:n.1270T>G, XR_007062504.1:n.1948T>G, XR_007062503.1:n.1694T>G, NP_001339351.1:p.Phe370Cys, NP_001339349.1:p.Phe395Cys, NP_001339350.1:p.Phe395Cys, NP_001071159.1:p.Phe402Cys, NP_001339340.1:p.Phe395Cys, NP_001071160.1:p.Phe395Cys, NP_001339352.1:p.Phe354Cys, NP_001339343.1:p.Phe402Cys, NP_001339341.1:p.Phe395Cys, NP_079016.2:p.Phe573Cys, NP_001339342.1:p.Phe402Cys, NP_001339339.1:p.Phe395Cys, NP_001071158.1:p.Phe566Cys, NP_001339348.1:p.Phe402Cys, NP_001339344.1:p.Phe395Cys, NP_001339345.1:p.Phe395Cys, NP_001339347.1:p.Phe525Cys, NP_001339338.1:p.Phe395Cys, NP_001339346.1:p.Phe566Cys, XP_005277780.1:p.Phe573Cys, XP_006718976.1:p.Phe573Cys, XP_016873803.1:p.Phe532Cys, XP_024304463.1:p.Phe566Cys

                              15.

                              rs1443896823 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                11:111870302 (GRCh38)
                                11:111741025 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:111870301:G:A
                                Gene:
                                ALG9 (Varview)
                                Functional Consequence:
                                intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000084/1 (ALFA)
                                A=0.000008/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.111870302G>A, NC_000011.9:g.111741025G>A, NG_009210.2:g.6279C>T, NG_009210.1:g.6280C>T, NR_147984.2:n.596C>T, NR_147984.1:n.576C>T, NM_001352422.2:c.-532C>T, NM_001352422.1:c.-532C>T, NM_001352420.2:c.-314C>T, NM_001352420.1:c.-314C>T, NM_001352421.2:c.-314C>T, NM_001352421.1:c.-314C>T, NM_001077691.2:c.-314C>T, NM_001077691.1:c.-314C>T, NM_001352411.2:c.-318C>T, NM_001352411.1:c.-318C>T, NM_001077692.2:c.-314C>T, NM_001077692.1:c.-314C>T, NM_001352423.2:c.-318C>T, NM_001352423.1:c.-318C>T, NM_001352414.2:c.-314C>T, NM_001352414.1:c.-314C>T, NM_001352412.2:c.-314C>T, NM_001352412.1:c.-314C>T, NM_024740.2:c.200C>T, NM_001352413.1:c.-318C>T, NM_001352410.1:c.-318C>T, NM_001077690.1:c.200C>T, NM_001352419.1:c.-314C>T, NM_001352415.1:c.-318C>T, NM_001352416.1:c.-314C>T, NM_001352418.1:c.200C>T, NM_001352417.1:c.200C>T, NW_003871080.1:g.122293G>A, XM_005277723.6:c.200C>T, XM_005277723.5:c.200C>T, XM_005277723.4:c.200C>T, XM_005277723.3:c.200C>T, XM_005277723.2:c.200C>T, XM_005277723.1:c.200C>T, XM_006718913.4:c.200C>T, XM_006718913.3:c.200C>T, XM_006718913.2:c.200C>T, XM_006718913.1:c.200C>T, XM_017018314.3:c.200C>T, XM_017018314.2:c.200C>T, XM_017018314.1:c.200C>T, XR_001747967.3:n.299C>T, XR_001747967.2:n.288C>T, XR_001747967.1:n.299C>T, XR_001747968.3:n.299C>T, XR_001747968.2:n.288C>T, XR_001747968.1:n.299C>T, XM_024448695.2:c.200C>T, XM_024448695.1:c.200C>T, XR_001747974.2:n.430C>T, XR_001747974.1:n.412C>T, XR_007062504.1:n.430C>T, XR_007062503.1:n.299C>T, XM_047427609.1:c.200C>T, NP_079016.2:p.Ser67Leu, NP_001071158.1:p.Ser67Leu, NP_001339347.1:p.Ser67Leu, NP_001339346.1:p.Ser67Leu, XP_005277780.1:p.Ser67Leu, XP_006718976.1:p.Ser67Leu, XP_016873803.1:p.Ser67Leu, XP_024304463.1:p.Ser67Leu, XP_047283565.1:p.Ser67Leu

                                16.

                                rs1443640332 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  11:111840757 (GRCh38)
                                  11:111711480 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:111840756:C:T
                                  Gene:
                                  ALG9 (Varview)
                                  Functional Consequence:
                                  intron_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000011.10:g.111840757C>T, NC_000011.9:g.111711480C>T, NG_009210.2:g.35824G>A, NG_009210.1:g.35825G>A, NR_147984.2:n.1467G>A, NR_147984.1:n.1447G>A, NM_001352422.2:c.483G>A, NM_001352422.1:c.483G>A, NM_001352420.2:c.558G>A, NM_001352420.1:c.558G>A, NM_001352421.2:c.558G>A, NM_001352421.1:c.558G>A, NM_001077691.2:c.558G>A, NM_001077691.1:c.558G>A, NM_001352411.2:c.558G>A, NM_001352411.1:c.558G>A, NM_001077692.2:c.558G>A, NM_001077692.1:c.558G>A, NM_001352423.2:c.435G>A, NM_001352423.1:c.435G>A, NM_001352414.2:c.558G>A, NM_001352414.1:c.558G>A, NM_001352412.2:c.558G>A, NM_001352412.1:c.558G>A, NM_024740.2:c.1071G>A, NM_001352419.1:c.558G>A, NM_001352415.1:c.558G>A, NM_001352416.1:c.558G>A, NM_001352413.1:c.558G>A, NM_001352410.1:c.558G>A, NM_001077690.1:c.1071G>A, NM_001352418.1:c.948G>A, NM_001352409.1:c.558G>A, NM_001352417.1:c.1071G>A, NW_003871080.1:g.92748C>T, XM_005277723.6:c.1071G>A, XM_005277723.5:c.1071G>A, XM_005277723.4:c.1071G>A, XM_005277723.3:c.1071G>A, XM_005277723.2:c.1071G>A, XM_005277723.1:c.1071G>A, XM_006718913.4:c.1071G>A, XM_006718913.3:c.1071G>A, XM_006718913.2:c.1071G>A, XM_006718913.1:c.1071G>A, XM_017018314.3:c.948G>A, XM_017018314.2:c.948G>A, XM_017018314.1:c.948G>A, XR_001747967.3:n.1170G>A, XR_001747967.2:n.1159G>A, XR_001747967.1:n.1170G>A, XR_001747968.3:n.1170G>A, XR_001747968.2:n.1159G>A, XR_001747968.1:n.1170G>A, XM_024448695.2:c.1071G>A, XM_024448695.1:c.1071G>A, XR_001747974.2:n.1305G>A, XR_001747974.1:n.1287G>A, XR_001747977.2:n.979G>A, XR_001747977.1:n.623G>A, XR_007062504.1:n.1301G>A, XR_007062503.1:n.1047G>A, NP_001339351.1:p.Trp161Ter, NP_001339349.1:p.Trp186Ter, NP_001339350.1:p.Trp186Ter, NP_001071159.1:p.Trp186Ter, NP_001339340.1:p.Trp186Ter, NP_001071160.1:p.Trp186Ter, NP_001339352.1:p.Trp145Ter, NP_001339343.1:p.Trp186Ter, NP_001339341.1:p.Trp186Ter, NP_079016.2:p.Trp357Ter, NP_001339348.1:p.Trp186Ter, NP_001339344.1:p.Trp186Ter, NP_001339345.1:p.Trp186Ter, NP_001339342.1:p.Trp186Ter, NP_001339339.1:p.Trp186Ter, NP_001071158.1:p.Trp357Ter, NP_001339347.1:p.Trp316Ter, NP_001339338.1:p.Trp186Ter, NP_001339346.1:p.Trp357Ter, XP_005277780.1:p.Trp357Ter, XP_006718976.1:p.Trp357Ter, XP_016873803.1:p.Trp316Ter, XP_024304463.1:p.Trp357Ter

                                  17.

                                  rs1442902799 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:111844663 (GRCh38)
                                    11:111715386 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:111844662:G:A
                                    Gene:
                                    ALG9 (Varview)
                                    Functional Consequence:
                                    intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.111844663G>A, NC_000011.9:g.111715386G>A, NG_009210.2:g.31918C>T, NG_009210.1:g.31919C>T, NR_147984.2:n.1352C>T, NR_147984.1:n.1332C>T, NM_001352422.2:c.368C>T, NM_001352422.1:c.368C>T, NM_001352420.2:c.443C>T, NM_001352420.1:c.443C>T, NM_001352421.2:c.443C>T, NM_001352421.1:c.443C>T, NM_001077691.2:c.443C>T, NM_001077691.1:c.443C>T, NM_001352411.2:c.443C>T, NM_001352411.1:c.443C>T, NM_001077692.2:c.443C>T, NM_001077692.1:c.443C>T, NM_001352414.2:c.443C>T, NM_001352414.1:c.443C>T, NM_001352412.2:c.443C>T, NM_001352412.1:c.443C>T, NM_024740.2:c.956C>T, NM_001352419.1:c.443C>T, NM_001352415.1:c.443C>T, NM_001352416.1:c.443C>T, NM_001352413.1:c.443C>T, NM_001352410.1:c.443C>T, NM_001077690.1:c.956C>T, NM_001352409.1:c.443C>T, NM_001352417.1:c.956C>T, NW_003871080.1:g.96654G>A, XM_005277723.6:c.956C>T, XM_005277723.5:c.956C>T, XM_005277723.4:c.956C>T, XM_005277723.3:c.956C>T, XM_005277723.2:c.956C>T, XM_005277723.1:c.956C>T, XM_006718913.4:c.956C>T, XM_006718913.3:c.956C>T, XM_006718913.2:c.956C>T, XM_006718913.1:c.956C>T, XR_001747967.3:n.1055C>T, XR_001747967.2:n.1044C>T, XR_001747967.1:n.1055C>T, XR_001747968.3:n.1055C>T, XR_001747968.2:n.1044C>T, XR_001747968.1:n.1055C>T, XM_024448695.2:c.956C>T, XM_024448695.1:c.956C>T, XR_001747974.2:n.1190C>T, XR_001747974.1:n.1172C>T, XR_001747977.2:n.864C>T, XR_001747977.1:n.508C>T, XR_007062504.1:n.1186C>T, XM_047427609.1:c.956C>T, NP_001339351.1:p.Ala123Val, NP_001339349.1:p.Ala148Val, NP_001339350.1:p.Ala148Val, NP_001071159.1:p.Ala148Val, NP_001339340.1:p.Ala148Val, NP_001071160.1:p.Ala148Val, NP_001339343.1:p.Ala148Val, NP_001339341.1:p.Ala148Val, NP_079016.2:p.Ala319Val, NP_001339348.1:p.Ala148Val, NP_001339344.1:p.Ala148Val, NP_001339345.1:p.Ala148Val, NP_001339342.1:p.Ala148Val, NP_001339339.1:p.Ala148Val, NP_001071158.1:p.Ala319Val, NP_001339338.1:p.Ala148Val, NP_001339346.1:p.Ala319Val, XP_005277780.1:p.Ala319Val, XP_006718976.1:p.Ala319Val, XP_024304463.1:p.Ala319Val, XP_047283565.1:p.Ala319Val

                                    18.

                                    rs1435439666 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      11:111853699 (GRCh38)
                                      11:111724422 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:111853698:T:G
                                      Gene:
                                      ALG9 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000342/1 (KOREAN)
                                      HGVS:
                                      NC_000011.10:g.111853699T>G, NC_000011.9:g.111724422T>G, NG_009210.2:g.22882A>C, NG_009210.1:g.22883A>C, NR_147984.2:n.1135A>C, NR_147984.1:n.1115A>C, NM_001352422.2:c.151A>C, NM_001352422.1:c.151A>C, NM_001352420.2:c.226A>C, NM_001352420.1:c.226A>C, NM_001352421.2:c.226A>C, NM_001352421.1:c.226A>C, NM_001077691.2:c.226A>C, NM_001077691.1:c.226A>C, NM_001352411.2:c.226A>C, NM_001352411.1:c.226A>C, NM_001077692.2:c.226A>C, NM_001077692.1:c.226A>C, NM_001352423.2:c.226A>C, NM_001352423.1:c.226A>C, NM_001352414.2:c.226A>C, NM_001352414.1:c.226A>C, NM_001352412.2:c.226A>C, NM_001352412.1:c.226A>C, NM_024740.2:c.739A>C, NM_001352419.1:c.226A>C, NM_001352415.1:c.226A>C, NM_001352416.1:c.226A>C, NM_001352413.1:c.226A>C, NM_001352410.1:c.226A>C, NM_001077690.1:c.739A>C, NM_001352418.1:c.739A>C, NM_001352409.1:c.226A>C, NM_001352417.1:c.739A>C, NW_003871080.1:g.105690T>G, XM_005277723.6:c.739A>C, XM_005277723.5:c.739A>C, XM_005277723.4:c.739A>C, XM_005277723.3:c.739A>C, XM_005277723.2:c.739A>C, XM_005277723.1:c.739A>C, XM_006718913.4:c.739A>C, XM_006718913.3:c.739A>C, XM_006718913.2:c.739A>C, XM_006718913.1:c.739A>C, XM_017018314.3:c.739A>C, XM_017018314.2:c.739A>C, XM_017018314.1:c.739A>C, XR_001747967.3:n.838A>C, XR_001747967.2:n.827A>C, XR_001747967.1:n.838A>C, XR_001747968.3:n.838A>C, XR_001747968.2:n.827A>C, XR_001747968.1:n.838A>C, XM_024448695.2:c.739A>C, XM_024448695.1:c.739A>C, XR_001747974.2:n.973A>C, XR_001747974.1:n.955A>C, XR_001747977.2:n.647A>C, XR_001747977.1:n.291A>C, XR_007062504.1:n.969A>C, XR_007062503.1:n.838A>C, XM_047427609.1:c.739A>C

                                      19.

                                      rs1431558153 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        11:111853419 (GRCh38)
                                        11:111724142 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:111853418:A:G
                                        Gene:
                                        ALG9 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000011/3 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000011.10:g.111853419A>G, NC_000011.9:g.111724142A>G, NG_009210.2:g.23162T>C, NG_009210.1:g.23163T>C, NR_147984.2:n.1252T>C, NR_147984.1:n.1232T>C, NM_001352422.2:c.268T>C, NM_001352422.1:c.268T>C, NM_001352420.2:c.343T>C, NM_001352420.1:c.343T>C, NM_001352421.2:c.343T>C, NM_001352421.1:c.343T>C, NM_001077691.2:c.343T>C, NM_001077691.1:c.343T>C, NM_001352411.2:c.343T>C, NM_001352411.1:c.343T>C, NM_001077692.2:c.343T>C, NM_001077692.1:c.343T>C, NM_001352423.2:c.343T>C, NM_001352423.1:c.343T>C, NM_001352414.2:c.343T>C, NM_001352414.1:c.343T>C, NM_001352412.2:c.343T>C, NM_001352412.1:c.343T>C, NM_024740.2:c.856T>C, NM_001352419.1:c.343T>C, NM_001352415.1:c.343T>C, NM_001352416.1:c.343T>C, NM_001352413.1:c.343T>C, NM_001352410.1:c.343T>C, NM_001077690.1:c.856T>C, NM_001352418.1:c.856T>C, NM_001352409.1:c.343T>C, NM_001352417.1:c.856T>C, NW_003871080.1:g.105410A>G, XM_005277723.6:c.856T>C, XM_005277723.5:c.856T>C, XM_005277723.4:c.856T>C, XM_005277723.3:c.856T>C, XM_005277723.2:c.856T>C, XM_005277723.1:c.856T>C, XM_006718913.4:c.856T>C, XM_006718913.3:c.856T>C, XM_006718913.2:c.856T>C, XM_006718913.1:c.856T>C, XM_017018314.3:c.856T>C, XM_017018314.2:c.856T>C, XM_017018314.1:c.856T>C, XR_001747967.3:n.955T>C, XR_001747967.2:n.944T>C, XR_001747967.1:n.955T>C, XR_001747968.3:n.955T>C, XR_001747968.2:n.944T>C, XR_001747968.1:n.955T>C, XM_024448695.2:c.856T>C, XM_024448695.1:c.856T>C, XR_001747974.2:n.1090T>C, XR_001747974.1:n.1072T>C, XR_001747977.2:n.764T>C, XR_001747977.1:n.408T>C, XR_007062504.1:n.1086T>C, XR_007062503.1:n.955T>C, XM_047427609.1:c.856T>C

                                        20.

                                        rs1429052183 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          11:111853695 (GRCh38)
                                          11:111724418 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:111853694:C:A
                                          Gene:
                                          ALG9 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0.000071/1 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.111853695C>A, NC_000011.9:g.111724418C>A, NG_009210.2:g.22886G>T, NG_009210.1:g.22887G>T, NR_147984.2:n.1139G>T, NR_147984.1:n.1119G>T, NM_001352422.2:c.155G>T, NM_001352422.1:c.155G>T, NM_001352420.2:c.230G>T, NM_001352420.1:c.230G>T, NM_001352421.2:c.230G>T, NM_001352421.1:c.230G>T, NM_001077691.2:c.230G>T, NM_001077691.1:c.230G>T, NM_001352411.2:c.230G>T, NM_001352411.1:c.230G>T, NM_001077692.2:c.230G>T, NM_001077692.1:c.230G>T, NM_001352423.2:c.230G>T, NM_001352423.1:c.230G>T, NM_001352414.2:c.230G>T, NM_001352414.1:c.230G>T, NM_001352412.2:c.230G>T, NM_001352412.1:c.230G>T, NM_024740.2:c.743G>T, NM_001352419.1:c.230G>T, NM_001352415.1:c.230G>T, NM_001352416.1:c.230G>T, NM_001352413.1:c.230G>T, NM_001352410.1:c.230G>T, NM_001077690.1:c.743G>T, NM_001352418.1:c.743G>T, NM_001352409.1:c.230G>T, NM_001352417.1:c.743G>T, NW_003871080.1:g.105686C>A, XM_005277723.6:c.743G>T, XM_005277723.5:c.743G>T, XM_005277723.4:c.743G>T, XM_005277723.3:c.743G>T, XM_005277723.2:c.743G>T, XM_005277723.1:c.743G>T, XM_006718913.4:c.743G>T, XM_006718913.3:c.743G>T, XM_006718913.2:c.743G>T, XM_006718913.1:c.743G>T, XM_017018314.3:c.743G>T, XM_017018314.2:c.743G>T, XM_017018314.1:c.743G>T, XR_001747967.3:n.842G>T, XR_001747967.2:n.831G>T, XR_001747967.1:n.842G>T, XR_001747968.3:n.842G>T, XR_001747968.2:n.831G>T, XR_001747968.1:n.842G>T, XM_024448695.2:c.743G>T, XM_024448695.1:c.743G>T, XR_001747974.2:n.977G>T, XR_001747974.1:n.959G>T, XR_001747977.2:n.651G>T, XR_001747977.1:n.295G>T, XR_007062504.1:n.973G>T, XR_007062503.1:n.842G>T, XM_047427609.1:c.743G>T, NP_001339351.1:p.Trp52Leu, NP_001339349.1:p.Trp77Leu, NP_001339350.1:p.Trp77Leu, NP_001071159.1:p.Trp77Leu, NP_001339340.1:p.Trp77Leu, NP_001071160.1:p.Trp77Leu, NP_001339352.1:p.Trp77Leu, NP_001339343.1:p.Trp77Leu, NP_001339341.1:p.Trp77Leu, NP_079016.2:p.Trp248Leu, NP_001339348.1:p.Trp77Leu, NP_001339344.1:p.Trp77Leu, NP_001339345.1:p.Trp77Leu, NP_001339342.1:p.Trp77Leu, NP_001339339.1:p.Trp77Leu, NP_001071158.1:p.Trp248Leu, NP_001339347.1:p.Trp248Leu, NP_001339338.1:p.Trp77Leu, NP_001339346.1:p.Trp248Leu, XP_005277780.1:p.Trp248Leu, XP_006718976.1:p.Trp248Leu, XP_016873803.1:p.Trp248Leu, XP_024304463.1:p.Trp248Leu, XP_047283565.1:p.Trp248Leu

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