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Items: 1 to 20 of 56

1.

rs1425602202 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    X:111687912 (GRCh38)
    X:110931140 (GRCh37)
    Canonical SPDI:
    NC_000023.11:111687911:A:G
    Gene:
    ALG13 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.00001/1 (GnomAD)
    HGVS:
    NC_000023.11:g.111687912A>G, NC_000023.10:g.110931140A>G, NG_016238.1:g.11795A>G, NM_018466.6:c.409A>G, NM_018466.5:c.409A>G, NM_018466.4:c.409A>G, NM_001039210.5:c.350A>G, NM_001039210.4:c.350A>G, NM_001039210.3:c.350A>G, NM_001257240.3:c.97A>G, NM_001257240.2:c.97A>G, NM_001257240.1:c.97A>G, NM_001257241.3:c.175A>G, NM_001257241.2:c.175A>G, NM_001257241.1:c.175A>G, NM_001257239.3:c.97A>G, NM_001257239.2:c.97A>G, NM_001257239.1:c.97A>G, NM_001168385.3:c.*45A>G, NM_001168385.2:c.*45A>G, NM_001168385.1:c.*45A>G, NM_001257235.3:c.97A>G, NM_001257235.2:c.97A>G, NM_001257235.1:c.97A>G, NR_033125.3:n.392A>G, NR_033125.2:n.444A>G, NR_033125.1:n.444A>G, NR_136735.2:n.517A>G, NR_136735.1:n.517A>G, NM_001324290.2:c.415A>G, NM_001324290.1:c.415A>G, NM_001324294.2:c.97A>G, NM_001324294.1:c.97A>G, NM_001324291.2:c.97A>G, NM_001324291.1:c.97A>G, NR_033134.1:n.583A>G, NR_033132.1:n.498A>G, NR_033129.1:n.479A>G, NP_060936.1:p.Met137Val, NP_001034299.3:p.Asn117Ser, NP_001244169.1:p.Met33Val, NP_001244170.1:p.Met59Val, NP_001244168.1:p.Met33Val, NP_001244164.1:p.Met33Val, NP_001311219.1:p.Met139Val, NP_001311223.1:p.Met33Val, NP_001311220.1:p.Met33Val

    2.

    rs1393289336 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:111687938 (GRCh38)
      X:110931166 (GRCh37)
      Canonical SPDI:
      NC_000023.11:111687937:T:C
      Gene:
      ALG13 (Varview)
      Functional Consequence:
      intron_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.00001/1 (GnomAD)
      HGVS:
      NC_000023.11:g.111687938T>C, NC_000023.10:g.110931166T>C, NG_016238.1:g.11821T>C, NM_018466.6:c.435T>C, NM_018466.5:c.435T>C, NM_018466.4:c.435T>C, NM_001039210.5:c.376T>C, NM_001039210.4:c.376T>C, NM_001039210.3:c.376T>C, NM_001257240.3:c.123T>C, NM_001257240.2:c.123T>C, NM_001257240.1:c.123T>C, NM_001257241.3:c.201T>C, NM_001257241.2:c.201T>C, NM_001257241.1:c.201T>C, NM_001257239.3:c.123T>C, NM_001257239.2:c.123T>C, NM_001257239.1:c.123T>C, NM_001168385.3:c.*71T>C, NM_001168385.2:c.*71T>C, NM_001168385.1:c.*71T>C, NM_001257235.3:c.123T>C, NM_001257235.2:c.123T>C, NM_001257235.1:c.123T>C, NR_033125.3:n.418T>C, NR_033125.2:n.470T>C, NR_033125.1:n.470T>C, NR_136735.2:n.543T>C, NR_136735.1:n.543T>C, NM_001324290.2:c.441T>C, NM_001324290.1:c.441T>C, NM_001324294.2:c.123T>C, NM_001324294.1:c.123T>C, NM_001324291.2:c.123T>C, NM_001324291.1:c.123T>C, NR_033134.1:n.609T>C, NR_033132.1:n.524T>C, NR_033129.1:n.505T>C, NP_001034299.3:p.Ser126Pro

      3.

      rs1391110079 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        X:111684974 (GRCh38)
        X:110928202 (GRCh37)
        Canonical SPDI:
        NC_000023.11:111684973:G:A
        Gene:
        ALG13 (Varview)
        Functional Consequence:
        5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.00001/1 (GnomAD)
        HGVS:
        NC_000023.11:g.111684974G>A, NC_000023.10:g.110928202G>A, NG_016238.1:g.8857G>A, NM_018466.6:c.254G>A, NM_018466.5:c.254G>A, NM_018466.4:c.254G>A, NM_001039210.5:c.195G>A, NM_001039210.4:c.195G>A, NM_001039210.3:c.195G>A, NM_001099922.3:c.254G>A, NM_001099922.2:c.254G>A, NM_001257240.3:c.-59G>A, NM_001257240.2:c.-59G>A, NM_001257240.1:c.-59G>A, NM_001257241.3:c.20G>A, NM_001257241.2:c.20G>A, NM_001257241.1:c.20G>A, NM_001257239.3:c.-59G>A, NM_001257239.2:c.-59G>A, NM_001257239.1:c.-59G>A, NM_001168385.3:c.254G>A, NM_001168385.2:c.254G>A, NM_001168385.1:c.254G>A, NM_001257235.3:c.-59G>A, NM_001257235.2:c.-59G>A, NM_001257235.1:c.-59G>A, NR_033125.3:n.199G>A, NR_033125.2:n.251G>A, NR_033125.1:n.251G>A, NM_001257231.2:c.20G>A, NM_001257231.1:c.20G>A, NM_001257237.2:c.-59G>A, NM_001257237.1:c.-59G>A, NM_001257234.2:c.-59G>A, NM_001257234.1:c.-59G>A, NM_001324292.2:c.254G>A, NM_001324292.1:c.254G>A, NM_001257230.2:c.-59G>A, NM_001257230.1:c.-59G>A, NR_148693.2:n.303G>A, NR_148693.1:n.355G>A, NR_136735.2:n.324G>A, NR_136735.1:n.324G>A, NM_001324290.2:c.260G>A, NM_001324290.1:c.260G>A, NM_001324294.2:c.-59G>A, NM_001324294.1:c.-59G>A, NM_001324291.2:c.-59G>A, NM_001324291.1:c.-59G>A, NM_001324293.1:c.-59G>A, XM_011531033.4:c.-59G>A, XM_011531033.3:c.-59G>A, XM_011531033.2:c.-59G>A, XM_011531033.1:c.-59G>A, XM_006724698.4:c.-59G>A, XM_006724698.3:c.-59G>A, XM_006724698.2:c.-59G>A, XM_006724698.1:c.-59G>A, XM_006724697.4:c.-59G>A, XM_006724697.3:c.-59G>A, XM_006724697.2:c.-59G>A, XM_006724697.1:c.-59G>A, XM_006724693.4:c.254G>A, XM_006724693.3:c.254G>A, XM_006724693.2:c.254G>A, XM_006724693.1:c.254G>A, XM_011531028.3:c.254G>A, XM_011531028.2:c.254G>A, XM_011531028.1:c.254G>A, XM_011531030.3:c.254G>A, XM_011531030.2:c.254G>A, XM_011531030.1:c.254G>A, XM_017029850.3:c.254G>A, XM_017029850.2:c.254G>A, XM_017029850.1:c.254G>A, XM_011531031.2:c.-59G>A, XM_011531031.1:c.-59G>A, XM_017029846.2:c.254G>A, XM_017029846.1:c.254G>A, XM_017029847.2:c.254G>A, XM_017029847.1:c.254G>A, XM_011531032.2:c.-59G>A, XM_011531032.1:c.-59G>A, XM_017029848.2:c.254G>A, XM_017029848.1:c.254G>A, XM_017029849.2:c.254G>A, XM_017029849.1:c.254G>A, XM_024452449.2:c.254G>A, XM_024452449.1:c.254G>A, NR_033127.1:n.369G>A, XM_047442520.1:c.254G>A, XM_047442524.1:c.-59G>A, XM_047442521.1:c.254G>A, NR_033131.1:n.428G>A, XM_047442522.1:c.254G>A, NR_033128.1:n.324G>A, XM_047442523.1:c.254G>A, NR_033124.1:n.251G>A, XM_047442525.1:c.254G>A, NR_033134.1:n.428G>A, NR_033132.1:n.343G>A, NR_033129.1:n.324G>A, NP_060936.1:p.Ser85Asn, NP_001093392.1:p.Ser85Asn, NP_001244170.1:p.Ser7Asn, NP_001161857.1:p.Ser85Asn, NP_001244160.1:p.Ser7Asn, NP_001311221.1:p.Ser85Asn, NP_001311219.1:p.Ser87Asn, XP_006724756.1:p.Ser85Asn, XP_011529330.1:p.Ser85Asn, XP_011529332.1:p.Ser85Asn, XP_016885339.1:p.Ser85Asn, XP_016885335.1:p.Ser85Asn, XP_016885336.1:p.Ser85Asn, XP_016885337.1:p.Ser85Asn, XP_016885338.1:p.Ser85Asn, XP_024308217.1:p.Ser85Asn, XP_047298476.1:p.Ser85Asn, XP_047298477.1:p.Ser85Asn, XP_047298478.1:p.Ser85Asn, XP_047298479.1:p.Ser85Asn, XP_047298481.1:p.Ser85Asn

        4.

        rs1352877688 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          X:111687910 (GRCh38)
          X:110931138 (GRCh37)
          Canonical SPDI:
          NC_000023.11:111687909:C:T
          Gene:
          ALG13 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant
          HGVS:
          NC_000023.11:g.111687910C>T, NC_000023.10:g.110931138C>T, NG_016238.1:g.11793C>T, NM_018466.6:c.407C>T, NM_018466.5:c.407C>T, NM_018466.4:c.407C>T, NM_001039210.5:c.348C>T, NM_001039210.4:c.348C>T, NM_001039210.3:c.348C>T, NM_001257240.3:c.95C>T, NM_001257240.2:c.95C>T, NM_001257240.1:c.95C>T, NM_001257241.3:c.173C>T, NM_001257241.2:c.173C>T, NM_001257241.1:c.173C>T, NM_001257239.3:c.95C>T, NM_001257239.2:c.95C>T, NM_001257239.1:c.95C>T, NM_001168385.3:c.*43C>T, NM_001168385.2:c.*43C>T, NM_001168385.1:c.*43C>T, NM_001257235.3:c.95C>T, NM_001257235.2:c.95C>T, NM_001257235.1:c.95C>T, NR_033125.3:n.390C>T, NR_033125.2:n.442C>T, NR_033125.1:n.442C>T, NR_136735.2:n.515C>T, NR_136735.1:n.515C>T, NM_001324290.2:c.413C>T, NM_001324290.1:c.413C>T, NM_001324294.2:c.95C>T, NM_001324294.1:c.95C>T, NM_001324291.2:c.95C>T, NM_001324291.1:c.95C>T, NR_033134.1:n.581C>T, NR_033132.1:n.496C>T, NR_033129.1:n.477C>T, NP_060936.1:p.Ser136Leu, NP_001244169.1:p.Ser32Leu, NP_001244170.1:p.Ser58Leu, NP_001244168.1:p.Ser32Leu, NP_001244164.1:p.Ser32Leu, NP_001311219.1:p.Ser138Leu, NP_001311223.1:p.Ser32Leu, NP_001311220.1:p.Ser32Leu

          5.

          rs1324224567 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            X:111687915 (GRCh38)
            X:110931143 (GRCh37)
            Canonical SPDI:
            NC_000023.11:111687914:G:A
            Gene:
            ALG13 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            HGVS:
            NC_000023.11:g.111687915G>A, NC_000023.10:g.110931143G>A, NG_016238.1:g.11798G>A, NM_018466.6:c.412G>A, NM_018466.5:c.412G>A, NM_018466.4:c.412G>A, NM_001039210.5:c.353G>A, NM_001039210.4:c.353G>A, NM_001039210.3:c.353G>A, NM_001257240.3:c.100G>A, NM_001257240.2:c.100G>A, NM_001257240.1:c.100G>A, NM_001257241.3:c.178G>A, NM_001257241.2:c.178G>A, NM_001257241.1:c.178G>A, NM_001257239.3:c.100G>A, NM_001257239.2:c.100G>A, NM_001257239.1:c.100G>A, NM_001168385.3:c.*48G>A, NM_001168385.2:c.*48G>A, NM_001168385.1:c.*48G>A, NM_001257235.3:c.100G>A, NM_001257235.2:c.100G>A, NM_001257235.1:c.100G>A, NR_033125.3:n.395G>A, NR_033125.2:n.447G>A, NR_033125.1:n.447G>A, NR_136735.2:n.520G>A, NR_136735.1:n.520G>A, NM_001324290.2:c.418G>A, NM_001324290.1:c.418G>A, NM_001324294.2:c.100G>A, NM_001324294.1:c.100G>A, NM_001324291.2:c.100G>A, NM_001324291.1:c.100G>A, NR_033134.1:n.586G>A, NR_033132.1:n.501G>A, NR_033129.1:n.482G>A, NP_060936.1:p.Asp138Asn, NP_001034299.3:p.Gly118Glu, NP_001244169.1:p.Asp34Asn, NP_001244170.1:p.Asp60Asn, NP_001244168.1:p.Asp34Asn, NP_001244164.1:p.Asp34Asn, NP_001311219.1:p.Asp140Asn, NP_001311223.1:p.Asp34Asn, NP_001311220.1:p.Asp34Asn

            6.

            rs1323583970 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              X:111687985 (GRCh38)
              X:110931213 (GRCh37)
              Canonical SPDI:
              NC_000023.11:111687984:T:G
              Gene:
              ALG13 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              HGVS:
              NC_000023.11:g.111687985T>G, NC_000023.10:g.110931213T>G, NG_016238.1:g.11868T>G, NM_018466.6:c.482T>G, NM_018466.5:c.482T>G, NM_018466.4:c.482T>G, NM_001039210.5:c.*6T>G, NM_001039210.4:c.*6T>G, NM_001039210.3:c.*6T>G, NM_001257240.3:c.170T>G, NM_001257240.2:c.170T>G, NM_001257240.1:c.170T>G, NM_001257241.3:c.248T>G, NM_001257241.2:c.248T>G, NM_001257241.1:c.248T>G, NM_001257239.3:c.170T>G, NM_001257239.2:c.170T>G, NM_001257239.1:c.170T>G, NM_001168385.3:c.*118T>G, NM_001168385.2:c.*118T>G, NM_001168385.1:c.*118T>G, NM_001257235.3:c.170T>G, NM_001257235.2:c.170T>G, NM_001257235.1:c.170T>G, NR_033125.3:n.465T>G, NR_033125.2:n.517T>G, NR_033125.1:n.517T>G, NR_136735.2:n.590T>G, NR_136735.1:n.590T>G, NM_001324290.2:c.488T>G, NM_001324290.1:c.488T>G, NM_001324294.2:c.170T>G, NM_001324294.1:c.170T>G, NM_001324291.2:c.170T>G, NM_001324291.1:c.170T>G, NR_033134.1:n.656T>G, NR_033132.1:n.571T>G, NR_033129.1:n.552T>G, NP_060936.1:p.Val161Gly, NP_001244169.1:p.Val57Gly, NP_001244170.1:p.Val83Gly, NP_001244168.1:p.Val57Gly, NP_001244164.1:p.Val57Gly, NP_001311219.1:p.Val163Gly, NP_001311223.1:p.Val57Gly, NP_001311220.1:p.Val57Gly

              7.

              rs1322122712 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                X:111687921 (GRCh38)
                X:110931149 (GRCh37)
                Canonical SPDI:
                NC_000023.11:111687920:T:C
                Gene:
                ALG13 (Varview)
                Functional Consequence:
                coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.00001/1 (GnomAD)
                C=0.000023/6 (TOPMED)
                HGVS:
                NC_000023.11:g.111687921T>C, NC_000023.10:g.110931149T>C, NG_016238.1:g.11804T>C, NM_018466.6:c.418T>C, NM_018466.5:c.418T>C, NM_018466.4:c.418T>C, NM_001039210.5:c.359T>C, NM_001039210.4:c.359T>C, NM_001039210.3:c.359T>C, NM_001257240.3:c.106T>C, NM_001257240.2:c.106T>C, NM_001257240.1:c.106T>C, NM_001257241.3:c.184T>C, NM_001257241.2:c.184T>C, NM_001257241.1:c.184T>C, NM_001257239.3:c.106T>C, NM_001257239.2:c.106T>C, NM_001257239.1:c.106T>C, NM_001168385.3:c.*54T>C, NM_001168385.2:c.*54T>C, NM_001168385.1:c.*54T>C, NM_001257235.3:c.106T>C, NM_001257235.2:c.106T>C, NM_001257235.1:c.106T>C, NR_033125.3:n.401T>C, NR_033125.2:n.453T>C, NR_033125.1:n.453T>C, NR_136735.2:n.526T>C, NR_136735.1:n.526T>C, NM_001324290.2:c.424T>C, NM_001324290.1:c.424T>C, NM_001324294.2:c.106T>C, NM_001324294.1:c.106T>C, NM_001324291.2:c.106T>C, NM_001324291.1:c.106T>C, NR_033134.1:n.592T>C, NR_033132.1:n.507T>C, NR_033129.1:n.488T>C, NP_060936.1:p.Ser140Pro, NP_001034299.3:p.Ile120Thr, NP_001244169.1:p.Ser36Pro, NP_001244170.1:p.Ser62Pro, NP_001244168.1:p.Ser36Pro, NP_001244164.1:p.Ser36Pro, NP_001311219.1:p.Ser142Pro, NP_001311223.1:p.Ser36Pro, NP_001311220.1:p.Ser36Pro

                8.

                rs1316426424 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  X:111685014 (GRCh38)
                  X:110928242 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:111685013:G:C
                  Gene:
                  ALG13 (Varview)
                  Functional Consequence:
                  synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000071/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000023.11:g.111685014G>C, NC_000023.10:g.110928242G>C, NG_016238.1:g.8897G>C, NM_018466.6:c.294G>C, NM_018466.5:c.294G>C, NM_018466.4:c.294G>C, NM_001039210.5:c.235G>C, NM_001039210.4:c.235G>C, NM_001039210.3:c.235G>C, NM_001099922.3:c.294G>C, NM_001099922.2:c.294G>C, NM_001257240.3:c.-19G>C, NM_001257240.2:c.-19G>C, NM_001257240.1:c.-19G>C, NM_001257241.3:c.60G>C, NM_001257241.2:c.60G>C, NM_001257241.1:c.60G>C, NM_001257239.3:c.-19G>C, NM_001257239.2:c.-19G>C, NM_001257239.1:c.-19G>C, NM_001168385.3:c.294G>C, NM_001168385.2:c.294G>C, NM_001168385.1:c.294G>C, NM_001257235.3:c.-19G>C, NM_001257235.2:c.-19G>C, NM_001257235.1:c.-19G>C, NR_033125.3:n.239G>C, NR_033125.2:n.291G>C, NR_033125.1:n.291G>C, NM_001257231.2:c.60G>C, NM_001257231.1:c.60G>C, NM_001257237.2:c.-19G>C, NM_001257237.1:c.-19G>C, NM_001257234.2:c.-19G>C, NM_001257234.1:c.-19G>C, NM_001324292.2:c.294G>C, NM_001324292.1:c.294G>C, NM_001257230.2:c.-19G>C, NM_001257230.1:c.-19G>C, NR_148693.2:n.343G>C, NR_148693.1:n.395G>C, NR_136735.2:n.364G>C, NR_136735.1:n.364G>C, NM_001324290.2:c.300G>C, NM_001324290.1:c.300G>C, NM_001324294.2:c.-19G>C, NM_001324294.1:c.-19G>C, NM_001324291.2:c.-19G>C, NM_001324291.1:c.-19G>C, NM_001324293.1:c.-19G>C, XM_011531033.4:c.-19G>C, XM_011531033.3:c.-19G>C, XM_011531033.2:c.-19G>C, XM_011531033.1:c.-19G>C, XM_006724698.4:c.-19G>C, XM_006724698.3:c.-19G>C, XM_006724698.2:c.-19G>C, XM_006724698.1:c.-19G>C, XM_006724697.4:c.-19G>C, XM_006724697.3:c.-19G>C, XM_006724697.2:c.-19G>C, XM_006724697.1:c.-19G>C, XM_006724693.4:c.294G>C, XM_006724693.3:c.294G>C, XM_006724693.2:c.294G>C, XM_006724693.1:c.294G>C, XM_011531028.3:c.294G>C, XM_011531028.2:c.294G>C, XM_011531028.1:c.294G>C, XM_011531030.3:c.294G>C, XM_011531030.2:c.294G>C, XM_011531030.1:c.294G>C, XM_017029850.3:c.294G>C, XM_017029850.2:c.294G>C, XM_017029850.1:c.294G>C, XM_011531031.2:c.-19G>C, XM_011531031.1:c.-19G>C, XM_017029846.2:c.294G>C, XM_017029846.1:c.294G>C, XM_017029847.2:c.294G>C, XM_017029847.1:c.294G>C, XM_011531032.2:c.-19G>C, XM_011531032.1:c.-19G>C, XM_017029848.2:c.294G>C, XM_017029848.1:c.294G>C, XM_017029849.2:c.294G>C, XM_017029849.1:c.294G>C, XM_024452449.2:c.294G>C, XM_024452449.1:c.294G>C, NR_033127.1:n.409G>C, XM_047442520.1:c.294G>C, XM_047442524.1:c.-19G>C, XM_047442521.1:c.294G>C, NR_033131.1:n.468G>C, XM_047442522.1:c.294G>C, NR_033128.1:n.364G>C, XM_047442523.1:c.294G>C, NR_033124.1:n.291G>C, XM_047442525.1:c.294G>C, NR_033134.1:n.468G>C, NR_033132.1:n.383G>C, NR_033129.1:n.364G>C, NP_001034299.3:p.Gly79Arg

                  9.

                  rs1304174618 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    X:111687887 (GRCh38)
                    X:110931115 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:111687886:C:T
                    Gene:
                    ALG13 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                    HGVS:
                    NC_000023.11:g.111687887C>T, NC_000023.10:g.110931115C>T, NG_016238.1:g.11770C>T, NM_018466.6:c.384C>T, NM_018466.5:c.384C>T, NM_018466.4:c.384C>T, NM_001039210.5:c.325C>T, NM_001039210.4:c.325C>T, NM_001039210.3:c.325C>T, NM_001257240.3:c.72C>T, NM_001257240.2:c.72C>T, NM_001257240.1:c.72C>T, NM_001257241.3:c.150C>T, NM_001257241.2:c.150C>T, NM_001257241.1:c.150C>T, NM_001257239.3:c.72C>T, NM_001257239.2:c.72C>T, NM_001257239.1:c.72C>T, NM_001168385.3:c.*20C>T, NM_001168385.2:c.*20C>T, NM_001168385.1:c.*20C>T, NM_001257235.3:c.72C>T, NM_001257235.2:c.72C>T, NM_001257235.1:c.72C>T, NR_033125.3:n.367C>T, NR_033125.2:n.419C>T, NR_033125.1:n.419C>T, NR_136735.2:n.492C>T, NR_136735.1:n.492C>T, NM_001324290.2:c.390C>T, NM_001324290.1:c.390C>T, NM_001324294.2:c.72C>T, NM_001324294.1:c.72C>T, NM_001324291.2:c.72C>T, NM_001324291.1:c.72C>T, NR_033134.1:n.558C>T, NR_033132.1:n.473C>T, NR_033129.1:n.454C>T, NP_001034299.3:p.His109Tyr

                    10.

                    rs1285323021 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      X:111687897 (GRCh38)
                      X:110931125 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:111687896:G:C
                      Gene:
                      ALG13 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000023.11:g.111687897G>C, NC_000023.10:g.110931125G>C, NG_016238.1:g.11780G>C, NM_018466.6:c.394G>C, NM_018466.5:c.394G>C, NM_018466.4:c.394G>C, NM_001039210.5:c.335G>C, NM_001039210.4:c.335G>C, NM_001039210.3:c.335G>C, NM_001257240.3:c.82G>C, NM_001257240.2:c.82G>C, NM_001257240.1:c.82G>C, NM_001257241.3:c.160G>C, NM_001257241.2:c.160G>C, NM_001257241.1:c.160G>C, NM_001257239.3:c.82G>C, NM_001257239.2:c.82G>C, NM_001257239.1:c.82G>C, NM_001168385.3:c.*30G>C, NM_001168385.2:c.*30G>C, NM_001168385.1:c.*30G>C, NM_001257235.3:c.82G>C, NM_001257235.2:c.82G>C, NM_001257235.1:c.82G>C, NR_033125.3:n.377G>C, NR_033125.2:n.429G>C, NR_033125.1:n.429G>C, NR_136735.2:n.502G>C, NR_136735.1:n.502G>C, NM_001324290.2:c.400G>C, NM_001324290.1:c.400G>C, NM_001324294.2:c.82G>C, NM_001324294.1:c.82G>C, NM_001324291.2:c.82G>C, NM_001324291.1:c.82G>C, NR_033134.1:n.568G>C, NR_033132.1:n.483G>C, NR_033129.1:n.464G>C, NP_060936.1:p.Gly132Arg, NP_001034299.3:p.Trp112Ser, NP_001244169.1:p.Gly28Arg, NP_001244170.1:p.Gly54Arg, NP_001244168.1:p.Gly28Arg, NP_001244164.1:p.Gly28Arg, NP_001311219.1:p.Gly134Arg, NP_001311223.1:p.Gly28Arg, NP_001311220.1:p.Gly28Arg

                      11.

                      rs1273593358 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        X:111685036 (GRCh38)
                        X:110928264 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:111685035:A:C
                        Gene:
                        ALG13 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000023.11:g.111685036A>C, NC_000023.10:g.110928264A>C, NG_016238.1:g.8919A>C, NM_018466.6:c.316A>C, NM_018466.5:c.316A>C, NM_018466.4:c.316A>C, NM_001039210.5:c.257A>C, NM_001039210.4:c.257A>C, NM_001039210.3:c.257A>C, NM_001099922.3:c.316A>C, NM_001099922.2:c.316A>C, NM_001257240.3:c.4A>C, NM_001257240.2:c.4A>C, NM_001257240.1:c.4A>C, NM_001257241.3:c.82A>C, NM_001257241.2:c.82A>C, NM_001257241.1:c.82A>C, NM_001257239.3:c.4A>C, NM_001257239.2:c.4A>C, NM_001257239.1:c.4A>C, NM_001168385.3:c.316A>C, NM_001168385.2:c.316A>C, NM_001168385.1:c.316A>C, NM_001257235.3:c.4A>C, NM_001257235.2:c.4A>C, NM_001257235.1:c.4A>C, NR_033125.3:n.261A>C, NR_033125.2:n.313A>C, NR_033125.1:n.313A>C, NM_001257231.2:c.82A>C, NM_001257231.1:c.82A>C, NM_001257237.2:c.4A>C, NM_001257237.1:c.4A>C, NM_001257234.2:c.4A>C, NM_001257234.1:c.4A>C, NM_001324292.2:c.316A>C, NM_001324292.1:c.316A>C, NM_001257230.2:c.4A>C, NM_001257230.1:c.4A>C, NR_148693.2:n.365A>C, NR_148693.1:n.417A>C, NR_136735.2:n.386A>C, NR_136735.1:n.386A>C, NM_001324290.2:c.322A>C, NM_001324290.1:c.322A>C, NM_001324294.2:c.4A>C, NM_001324294.1:c.4A>C, NM_001324291.2:c.4A>C, NM_001324291.1:c.4A>C, NM_001324293.1:c.4A>C, XM_011531033.4:c.4A>C, XM_011531033.3:c.4A>C, XM_011531033.2:c.4A>C, XM_011531033.1:c.4A>C, XM_006724698.4:c.4A>C, XM_006724698.3:c.4A>C, XM_006724698.2:c.4A>C, XM_006724698.1:c.4A>C, XM_006724697.4:c.4A>C, XM_006724697.3:c.4A>C, XM_006724697.2:c.4A>C, XM_006724697.1:c.4A>C, XM_006724693.4:c.316A>C, XM_006724693.3:c.316A>C, XM_006724693.2:c.316A>C, XM_006724693.1:c.316A>C, XM_011531028.3:c.316A>C, XM_011531028.2:c.316A>C, XM_011531028.1:c.316A>C, XM_011531030.3:c.316A>C, XM_011531030.2:c.316A>C, XM_011531030.1:c.316A>C, XM_011531034.3:c.-405A>C, XM_017029850.3:c.316A>C, XM_017029850.2:c.316A>C, XM_017029850.1:c.316A>C, XM_011531031.2:c.4A>C, XM_011531031.1:c.4A>C, XM_017029846.2:c.316A>C, XM_017029846.1:c.316A>C, XM_017029847.2:c.316A>C, XM_017029847.1:c.316A>C, XM_011531032.2:c.4A>C, XM_011531032.1:c.4A>C, XM_017029848.2:c.316A>C, XM_017029848.1:c.316A>C, XM_017029849.2:c.316A>C, XM_017029849.1:c.316A>C, XM_024452449.2:c.316A>C, XM_024452449.1:c.316A>C, NR_033127.1:n.431A>C, XM_047442520.1:c.316A>C, XM_047442524.1:c.4A>C, XM_047442521.1:c.316A>C, NR_033131.1:n.490A>C, XM_047442522.1:c.316A>C, NR_033128.1:n.386A>C, XM_047442523.1:c.316A>C, NR_033124.1:n.313A>C, XM_047442525.1:c.316A>C, XM_047442526.1:c.-233A>C, XM_047442529.1:c.-596A>C, XM_047442528.1:c.-425A>C, NR_033134.1:n.490A>C, NR_033132.1:n.405A>C, NR_033129.1:n.386A>C, NP_060936.1:p.Asn106His, NP_001034299.3:p.Glu86Ala, NP_001093392.1:p.Asn106His, NP_001244169.1:p.Asn2His, NP_001244170.1:p.Asn28His, NP_001244168.1:p.Asn2His, NP_001161857.1:p.Asn106His, NP_001244164.1:p.Asn2His, NP_001244160.1:p.Asn28His, NP_001244166.1:p.Asn2His, NP_001244163.1:p.Asn2His, NP_001311221.1:p.Asn106His, NP_001244159.1:p.Asn2His, NP_001311219.1:p.Asn108His, NP_001311223.1:p.Asn2His, NP_001311220.1:p.Asn2His, NP_001311222.1:p.Asn2His, XP_011529335.1:p.Asn2His, XP_006724761.2:p.Asn2His, XP_006724760.2:p.Asn2His, XP_006724756.1:p.Asn106His, XP_011529330.1:p.Asn106His, XP_011529332.1:p.Asn106His, XP_016885339.1:p.Asn106His, XP_011529333.1:p.Asn2His, XP_016885335.1:p.Asn106His, XP_016885336.1:p.Asn106His, XP_011529334.1:p.Asn2His, XP_016885337.1:p.Asn106His, XP_016885338.1:p.Asn106His, XP_024308217.1:p.Asn106His, XP_047298476.1:p.Asn106His, XP_047298480.1:p.Asn2His, XP_047298477.1:p.Asn106His, XP_047298478.1:p.Asn106His, XP_047298479.1:p.Asn106His, XP_047298481.1:p.Asn106His

                        12.

                        rs1242810660 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          X:111685097 (GRCh38)
                          X:110928325 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:111685096:C:A
                          Gene:
                          ALG13 (Varview)
                          Functional Consequence:
                          stop_gained,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000006/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.111685097C>A, NC_000023.10:g.110928325C>A, NG_016238.1:g.8980C>A, NM_018466.6:c.377C>A, NM_018466.5:c.377C>A, NM_018466.4:c.377C>A, NM_001039210.5:c.318C>A, NM_001039210.4:c.318C>A, NM_001039210.3:c.318C>A, NM_001099922.3:c.377C>A, NM_001099922.2:c.377C>A, NM_001257240.3:c.65C>A, NM_001257240.2:c.65C>A, NM_001257240.1:c.65C>A, NM_001257241.3:c.143C>A, NM_001257241.2:c.143C>A, NM_001257241.1:c.143C>A, NM_001257239.3:c.65C>A, NM_001257239.2:c.65C>A, NM_001257239.1:c.65C>A, NM_001168385.3:c.377C>A, NM_001168385.2:c.377C>A, NM_001168385.1:c.377C>A, NM_001257235.3:c.65C>A, NM_001257235.2:c.65C>A, NM_001257235.1:c.65C>A, NR_033125.3:n.322C>A, NR_033125.2:n.374C>A, NR_033125.1:n.374C>A, NM_001257231.2:c.143C>A, NM_001257231.1:c.143C>A, NM_001257237.2:c.65C>A, NM_001257237.1:c.65C>A, NM_001257234.2:c.65C>A, NM_001257234.1:c.65C>A, NM_001324292.2:c.377C>A, NM_001324292.1:c.377C>A, NM_001257230.2:c.65C>A, NM_001257230.1:c.65C>A, NR_148693.2:n.426C>A, NR_148693.1:n.478C>A, NR_136735.2:n.447C>A, NR_136735.1:n.447C>A, NM_001324290.2:c.383C>A, NM_001324290.1:c.383C>A, NM_001324294.2:c.65C>A, NM_001324294.1:c.65C>A, NM_001324291.2:c.65C>A, NM_001324291.1:c.65C>A, NM_001324293.1:c.65C>A, XM_011531033.4:c.65C>A, XM_011531033.3:c.65C>A, XM_011531033.2:c.65C>A, XM_011531033.1:c.65C>A, XM_006724698.4:c.65C>A, XM_006724698.3:c.65C>A, XM_006724698.2:c.65C>A, XM_006724698.1:c.65C>A, XM_006724697.4:c.65C>A, XM_006724697.3:c.65C>A, XM_006724697.2:c.65C>A, XM_006724697.1:c.65C>A, XM_006724693.4:c.377C>A, XM_006724693.3:c.377C>A, XM_006724693.2:c.377C>A, XM_006724693.1:c.377C>A, XM_011531028.3:c.377C>A, XM_011531028.2:c.377C>A, XM_011531028.1:c.377C>A, XM_011531030.3:c.377C>A, XM_011531030.2:c.377C>A, XM_011531030.1:c.377C>A, XM_011531034.3:c.-344C>A, XM_017029850.3:c.377C>A, XM_017029850.2:c.377C>A, XM_017029850.1:c.377C>A, XM_011531031.2:c.65C>A, XM_011531031.1:c.65C>A, XM_017029846.2:c.377C>A, XM_017029846.1:c.377C>A, XM_017029847.2:c.377C>A, XM_017029847.1:c.377C>A, XM_011531032.2:c.65C>A, XM_011531032.1:c.65C>A, XM_017029848.2:c.377C>A, XM_017029848.1:c.377C>A, XM_017029849.2:c.377C>A, XM_017029849.1:c.377C>A, XM_024452449.2:c.377C>A, XM_024452449.1:c.377C>A, NR_033127.1:n.492C>A, XM_047442520.1:c.377C>A, XM_047442524.1:c.65C>A, XM_047442521.1:c.377C>A, NR_033131.1:n.551C>A, XM_047442522.1:c.377C>A, NR_033128.1:n.447C>A, XM_047442523.1:c.377C>A, NR_033124.1:n.374C>A, XM_047442525.1:c.377C>A, XM_047442526.1:c.-172C>A, XM_047442529.1:c.-535C>A, XM_047442528.1:c.-364C>A, NR_033134.1:n.551C>A, NR_033132.1:n.466C>A, NR_033129.1:n.447C>A, NP_060936.1:p.Thr126Asn, NP_001034299.3:p.Tyr106Ter, NP_001093392.1:p.Thr126Asn, NP_001244169.1:p.Thr22Asn, NP_001244170.1:p.Thr48Asn, NP_001244168.1:p.Thr22Asn, NP_001161857.1:p.Thr126Asn, NP_001244164.1:p.Thr22Asn, NP_001244160.1:p.Thr48Asn, NP_001244166.1:p.Thr22Asn, NP_001244163.1:p.Thr22Asn, NP_001311221.1:p.Thr126Asn, NP_001244159.1:p.Thr22Asn, NP_001311219.1:p.Thr128Asn, NP_001311223.1:p.Thr22Asn, NP_001311220.1:p.Thr22Asn, NP_001311222.1:p.Thr22Asn, XP_011529335.1:p.Thr22Asn, XP_006724761.2:p.Thr22Asn, XP_006724760.2:p.Thr22Asn, XP_006724756.1:p.Thr126Asn, XP_011529330.1:p.Thr126Asn, XP_011529332.1:p.Thr126Asn, XP_016885339.1:p.Thr126Asn, XP_011529333.1:p.Thr22Asn, XP_016885335.1:p.Thr126Asn, XP_016885336.1:p.Thr126Asn, XP_011529334.1:p.Thr22Asn, XP_016885337.1:p.Thr126Asn, XP_016885338.1:p.Thr126Asn, XP_024308217.1:p.Thr126Asn, XP_047298476.1:p.Thr126Asn, XP_047298480.1:p.Thr22Asn, XP_047298477.1:p.Thr126Asn, XP_047298478.1:p.Thr126Asn, XP_047298479.1:p.Thr126Asn, XP_047298481.1:p.Thr126Asn

                          13.

                          rs1206030503 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            X:111687951 (GRCh38)
                            X:110931179 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:111687950:C:G,NC_000023.11:111687950:C:T
                            Gene:
                            ALG13 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.00001/1 (GnomAD)
                            HGVS:
                            NC_000023.11:g.111687951C>G, NC_000023.11:g.111687951C>T, NC_000023.10:g.110931179C>G, NC_000023.10:g.110931179C>T, NG_016238.1:g.11834C>G, NG_016238.1:g.11834C>T, NM_018466.6:c.448C>G, NM_018466.6:c.448C>T, NM_018466.5:c.448C>G, NM_018466.5:c.448C>T, NM_018466.4:c.448C>G, NM_018466.4:c.448C>T, NM_001039210.5:c.389C>G, NM_001039210.5:c.389C>T, NM_001039210.4:c.389C>G, NM_001039210.4:c.389C>T, NM_001039210.3:c.389C>G, NM_001039210.3:c.389C>T, NM_001257240.3:c.136C>G, NM_001257240.3:c.136C>T, NM_001257240.2:c.136C>G, NM_001257240.2:c.136C>T, NM_001257240.1:c.136C>G, NM_001257240.1:c.136C>T, NM_001257241.3:c.214C>G, NM_001257241.3:c.214C>T, NM_001257241.2:c.214C>G, NM_001257241.2:c.214C>T, NM_001257241.1:c.214C>G, NM_001257241.1:c.214C>T, NM_001257239.3:c.136C>G, NM_001257239.3:c.136C>T, NM_001257239.2:c.136C>G, NM_001257239.2:c.136C>T, NM_001257239.1:c.136C>G, NM_001257239.1:c.136C>T, NM_001168385.3:c.*84C>G, NM_001168385.3:c.*84C>T, NM_001168385.2:c.*84C>G, NM_001168385.2:c.*84C>T, NM_001168385.1:c.*84C>G, NM_001168385.1:c.*84C>T, NM_001257235.3:c.136C>G, NM_001257235.3:c.136C>T, NM_001257235.2:c.136C>G, NM_001257235.2:c.136C>T, NM_001257235.1:c.136C>G, NM_001257235.1:c.136C>T, NR_033125.3:n.431C>G, NR_033125.3:n.431C>T, NR_033125.2:n.483C>G, NR_033125.2:n.483C>T, NR_033125.1:n.483C>G, NR_033125.1:n.483C>T, NR_136735.2:n.556C>G, NR_136735.2:n.556C>T, NR_136735.1:n.556C>G, NR_136735.1:n.556C>T, NM_001324290.2:c.454C>G, NM_001324290.2:c.454C>T, NM_001324290.1:c.454C>G, NM_001324290.1:c.454C>T, NM_001324294.2:c.136C>G, NM_001324294.2:c.136C>T, NM_001324294.1:c.136C>G, NM_001324294.1:c.136C>T, NM_001324291.2:c.136C>G, NM_001324291.2:c.136C>T, NM_001324291.1:c.136C>G, NM_001324291.1:c.136C>T, NR_033134.1:n.622C>G, NR_033134.1:n.622C>T, NR_033132.1:n.537C>G, NR_033132.1:n.537C>T, NR_033129.1:n.518C>G, NR_033129.1:n.518C>T, NP_060936.1:p.Pro150Ala, NP_060936.1:p.Pro150Ser, NP_001034299.3:p.Ala130Gly, NP_001034299.3:p.Ala130Val, NP_001244169.1:p.Pro46Ala, NP_001244169.1:p.Pro46Ser, NP_001244170.1:p.Pro72Ala, NP_001244170.1:p.Pro72Ser, NP_001244168.1:p.Pro46Ala, NP_001244168.1:p.Pro46Ser, NP_001244164.1:p.Pro46Ala, NP_001244164.1:p.Pro46Ser, NP_001311219.1:p.Pro152Ala, NP_001311219.1:p.Pro152Ser, NP_001311223.1:p.Pro46Ala, NP_001311223.1:p.Pro46Ser, NP_001311220.1:p.Pro46Ala, NP_001311220.1:p.Pro46Ser

                            14.

                            rs1197143679 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              X:111687993 (GRCh38)
                              X:110931221 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:111687992:C:T
                              Gene:
                              ALG13 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
                              HGVS:
                              NC_000023.11:g.111687993C>T, NC_000023.10:g.110931221C>T, NG_016238.1:g.11876C>T, NM_018466.6:c.490C>T, NM_018466.5:c.490C>T, NM_018466.4:c.490C>T, NM_001039210.5:c.*14C>T, NM_001039210.4:c.*14C>T, NM_001039210.3:c.*14C>T, NM_001257240.3:c.178C>T, NM_001257240.2:c.178C>T, NM_001257240.1:c.178C>T, NM_001257241.3:c.256C>T, NM_001257241.2:c.256C>T, NM_001257241.1:c.256C>T, NM_001257239.3:c.178C>T, NM_001257239.2:c.178C>T, NM_001257239.1:c.178C>T, NM_001168385.3:c.*126C>T, NM_001168385.2:c.*126C>T, NM_001168385.1:c.*126C>T, NM_001257235.3:c.178C>T, NM_001257235.2:c.178C>T, NM_001257235.1:c.178C>T, NR_033125.3:n.473C>T, NR_033125.2:n.525C>T, NR_033125.1:n.525C>T, NR_136735.2:n.598C>T, NR_136735.1:n.598C>T, NM_001324290.2:c.496C>T, NM_001324290.1:c.496C>T, NM_001324294.2:c.178C>T, NM_001324294.1:c.178C>T, NM_001324291.2:c.178C>T, NM_001324291.1:c.178C>T, NR_033134.1:n.664C>T, NR_033132.1:n.579C>T, NR_033129.1:n.560C>T, NP_060936.1:p.Gln164Ter, NP_001244169.1:p.Gln60Ter, NP_001244170.1:p.Gln86Ter, NP_001244168.1:p.Gln60Ter, NP_001244164.1:p.Gln60Ter, NP_001311219.1:p.Gln166Ter, NP_001311223.1:p.Gln60Ter, NP_001311220.1:p.Gln60Ter

                              15.

                              rs1168438563 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:111687890 (GRCh38)
                                X:110931118 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:111687889:G:A
                                Gene:
                                ALG13 (Varview)
                                Functional Consequence:
                                missense_variant,intron_variant,coding_sequence_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.00001/1 (GnomAD)
                                HGVS:
                                NC_000023.11:g.111687890G>A, NC_000023.10:g.110931118G>A, NG_016238.1:g.11773G>A, NM_018466.6:c.387G>A, NM_018466.5:c.387G>A, NM_018466.4:c.387G>A, NM_001039210.5:c.328G>A, NM_001039210.4:c.328G>A, NM_001039210.3:c.328G>A, NM_001257240.3:c.75G>A, NM_001257240.2:c.75G>A, NM_001257240.1:c.75G>A, NM_001257241.3:c.153G>A, NM_001257241.2:c.153G>A, NM_001257241.1:c.153G>A, NM_001257239.3:c.75G>A, NM_001257239.2:c.75G>A, NM_001257239.1:c.75G>A, NM_001168385.3:c.*23G>A, NM_001168385.2:c.*23G>A, NM_001168385.1:c.*23G>A, NM_001257235.3:c.75G>A, NM_001257235.2:c.75G>A, NM_001257235.1:c.75G>A, NR_033125.3:n.370G>A, NR_033125.2:n.422G>A, NR_033125.1:n.422G>A, NR_136735.2:n.495G>A, NR_136735.1:n.495G>A, NM_001324290.2:c.393G>A, NM_001324290.1:c.393G>A, NM_001324294.2:c.75G>A, NM_001324294.1:c.75G>A, NM_001324291.2:c.75G>A, NM_001324291.1:c.75G>A, NR_033134.1:n.561G>A, NR_033132.1:n.476G>A, NR_033129.1:n.457G>A, NP_001034299.3:p.Ala110Thr

                                16.

                                rs1167013400 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  X:111685103 (GRCh38)
                                  X:110928331 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:111685102:G:C
                                  Gene:
                                  ALG13 (Varview)
                                  Functional Consequence:
                                  missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000111/1 (ALFA)
                                  C=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000023.11:g.111685103G>C, NC_000023.10:g.110928331G>C, NG_016238.1:g.8986G>C, NM_018466.6:c.383G>C, NM_018466.5:c.383G>C, NM_018466.4:c.383G>C, NM_001039210.5:c.324G>C, NM_001039210.4:c.324G>C, NM_001039210.3:c.324G>C, NM_001099922.3:c.383G>C, NM_001099922.2:c.383G>C, NM_001257240.3:c.71G>C, NM_001257240.2:c.71G>C, NM_001257240.1:c.71G>C, NM_001257241.3:c.149G>C, NM_001257241.2:c.149G>C, NM_001257241.1:c.149G>C, NM_001257239.3:c.71G>C, NM_001257239.2:c.71G>C, NM_001257239.1:c.71G>C, NM_001168385.3:c.383G>C, NM_001168385.2:c.383G>C, NM_001168385.1:c.383G>C, NM_001257235.3:c.71G>C, NM_001257235.2:c.71G>C, NM_001257235.1:c.71G>C, NR_033125.3:n.328G>C, NR_033125.2:n.380G>C, NR_033125.1:n.380G>C, NM_001257231.2:c.149G>C, NM_001257231.1:c.149G>C, NM_001257237.2:c.71G>C, NM_001257237.1:c.71G>C, NM_001257234.2:c.71G>C, NM_001257234.1:c.71G>C, NM_001324292.2:c.383G>C, NM_001324292.1:c.383G>C, NM_001257230.2:c.71G>C, NM_001257230.1:c.71G>C, NR_148693.2:n.432G>C, NR_148693.1:n.484G>C, NR_136735.2:n.453G>C, NR_136735.1:n.453G>C, NM_001324290.2:c.389G>C, NM_001324290.1:c.389G>C, NM_001324294.2:c.71G>C, NM_001324294.1:c.71G>C, NM_001324291.2:c.71G>C, NM_001324291.1:c.71G>C, NM_001324293.1:c.71G>C, XM_011531033.4:c.71G>C, XM_011531033.3:c.71G>C, XM_011531033.2:c.71G>C, XM_011531033.1:c.71G>C, XM_006724698.4:c.71G>C, XM_006724698.3:c.71G>C, XM_006724698.2:c.71G>C, XM_006724698.1:c.71G>C, XM_006724697.4:c.71G>C, XM_006724697.3:c.71G>C, XM_006724697.2:c.71G>C, XM_006724697.1:c.71G>C, XM_006724693.4:c.383G>C, XM_006724693.3:c.383G>C, XM_006724693.2:c.383G>C, XM_006724693.1:c.383G>C, XM_011531028.3:c.383G>C, XM_011531028.2:c.383G>C, XM_011531028.1:c.383G>C, XM_011531030.3:c.383G>C, XM_011531030.2:c.383G>C, XM_011531030.1:c.383G>C, XM_011531034.3:c.-338G>C, XM_011531034.1:c.-338G>C, XM_017029850.3:c.383G>C, XM_017029850.2:c.383G>C, XM_017029850.1:c.383G>C, XM_011531031.2:c.71G>C, XM_011531031.1:c.71G>C, XM_017029846.2:c.383G>C, XM_017029846.1:c.383G>C, XM_017029847.2:c.383G>C, XM_017029847.1:c.383G>C, XM_011531032.2:c.71G>C, XM_011531032.1:c.71G>C, XM_017029848.2:c.383G>C, XM_017029848.1:c.383G>C, XM_017029849.2:c.383G>C, XM_017029849.1:c.383G>C, XM_024452449.2:c.383G>C, XM_024452449.1:c.383G>C, NR_033127.1:n.498G>C, XM_047442520.1:c.383G>C, XM_047442524.1:c.71G>C, XM_047442521.1:c.383G>C, NR_033131.1:n.557G>C, XM_047442522.1:c.383G>C, NR_033128.1:n.453G>C, XM_047442523.1:c.383G>C, NR_033124.1:n.380G>C, XM_047442525.1:c.383G>C, XM_047442526.1:c.-166G>C, XM_047442529.1:c.-529G>C, XM_047442528.1:c.-358G>C, NR_033134.1:n.557G>C, NR_033132.1:n.472G>C, NR_033129.1:n.453G>C, NP_060936.1:p.Ser128Thr, NP_001034299.3:p.Gln108His, NP_001093392.1:p.Arg128Thr, NP_001244169.1:p.Ser24Thr, NP_001244170.1:p.Ser50Thr, NP_001244168.1:p.Ser24Thr, NP_001161857.1:p.Ser128Thr, NP_001244164.1:p.Ser24Thr, NP_001244160.1:p.Arg50Thr, NP_001244166.1:p.Arg24Thr, NP_001244163.1:p.Arg24Thr, NP_001311221.1:p.Arg128Thr, NP_001244159.1:p.Arg24Thr, NP_001311219.1:p.Ser130Thr, NP_001311223.1:p.Ser24Thr, NP_001311220.1:p.Ser24Thr, NP_001311222.1:p.Arg24Thr, XP_011529335.1:p.Arg24Thr, XP_006724761.2:p.Arg24Thr, XP_006724760.2:p.Arg24Thr, XP_006724756.1:p.Arg128Thr, XP_011529330.1:p.Arg128Thr, XP_011529332.1:p.Arg128Thr, XP_016885339.1:p.Arg128Thr, XP_011529333.1:p.Arg24Thr, XP_016885335.1:p.Arg128Thr, XP_016885336.1:p.Arg128Thr, XP_011529334.1:p.Arg24Thr, XP_016885337.1:p.Arg128Thr, XP_016885338.1:p.Arg128Thr, XP_024308217.1:p.Arg128Thr, XP_047298476.1:p.Arg128Thr, XP_047298480.1:p.Arg24Thr, XP_047298477.1:p.Arg128Thr, XP_047298478.1:p.Arg128Thr, XP_047298479.1:p.Arg128Thr, XP_047298481.1:p.Arg128Thr

                                  17.

                                  rs1057522348 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    X:111684993 (GRCh38)
                                    X:110928221 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:111684992:A:G
                                    Gene:
                                    ALG13 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000142/2 (ALFA)
                                    G=0.00001/1 (GnomAD)
                                    G=0.000011/2 (GnomAD_exomes)
                                    G=0.000026/7 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.111684993A>G, NC_000023.10:g.110928221A>G, NG_016238.1:g.8876A>G, NM_018466.6:c.273A>G, NM_018466.5:c.273A>G, NM_018466.4:c.273A>G, NM_001039210.5:c.214A>G, NM_001039210.4:c.214A>G, NM_001039210.3:c.214A>G, NM_001099922.3:c.273A>G, NM_001099922.2:c.273A>G, NM_001257240.3:c.-40A>G, NM_001257240.2:c.-40A>G, NM_001257240.1:c.-40A>G, NM_001257241.3:c.39A>G, NM_001257241.2:c.39A>G, NM_001257241.1:c.39A>G, NM_001257239.3:c.-40A>G, NM_001257239.2:c.-40A>G, NM_001257239.1:c.-40A>G, NM_001168385.3:c.273A>G, NM_001168385.2:c.273A>G, NM_001168385.1:c.273A>G, NM_001257235.3:c.-40A>G, NM_001257235.2:c.-40A>G, NM_001257235.1:c.-40A>G, NR_033125.3:n.218A>G, NR_033125.2:n.270A>G, NR_033125.1:n.270A>G, NM_001257231.2:c.39A>G, NM_001257231.1:c.39A>G, NM_001257237.2:c.-40A>G, NM_001257237.1:c.-40A>G, NM_001257234.2:c.-40A>G, NM_001257234.1:c.-40A>G, NM_001324292.2:c.273A>G, NM_001324292.1:c.273A>G, NM_001257230.2:c.-40A>G, NM_001257230.1:c.-40A>G, NR_148693.2:n.322A>G, NR_148693.1:n.374A>G, NR_136735.2:n.343A>G, NR_136735.1:n.343A>G, NM_001324290.2:c.279A>G, NM_001324290.1:c.279A>G, NM_001324294.2:c.-40A>G, NM_001324294.1:c.-40A>G, NM_001324291.2:c.-40A>G, NM_001324291.1:c.-40A>G, NM_001324293.1:c.-40A>G, XM_011531033.4:c.-40A>G, XM_011531033.3:c.-40A>G, XM_011531033.2:c.-40A>G, XM_011531033.1:c.-40A>G, XM_006724698.4:c.-40A>G, XM_006724698.3:c.-40A>G, XM_006724698.2:c.-40A>G, XM_006724698.1:c.-40A>G, XM_006724697.4:c.-40A>G, XM_006724697.3:c.-40A>G, XM_006724697.2:c.-40A>G, XM_006724697.1:c.-40A>G, XM_006724693.4:c.273A>G, XM_006724693.3:c.273A>G, XM_006724693.2:c.273A>G, XM_006724693.1:c.273A>G, XM_011531028.3:c.273A>G, XM_011531028.2:c.273A>G, XM_011531028.1:c.273A>G, XM_011531030.3:c.273A>G, XM_011531030.2:c.273A>G, XM_011531030.1:c.273A>G, XM_017029850.3:c.273A>G, XM_017029850.2:c.273A>G, XM_017029850.1:c.273A>G, XM_011531031.2:c.-40A>G, XM_011531031.1:c.-40A>G, XM_017029846.2:c.273A>G, XM_017029846.1:c.273A>G, XM_017029847.2:c.273A>G, XM_017029847.1:c.273A>G, XM_011531032.2:c.-40A>G, XM_011531032.1:c.-40A>G, XM_017029848.2:c.273A>G, XM_017029848.1:c.273A>G, XM_017029849.2:c.273A>G, XM_017029849.1:c.273A>G, XM_024452449.2:c.273A>G, XM_024452449.1:c.273A>G, NR_033127.1:n.388A>G, XM_047442520.1:c.273A>G, XM_047442524.1:c.-40A>G, XM_047442521.1:c.273A>G, NR_033131.1:n.447A>G, XM_047442522.1:c.273A>G, NR_033128.1:n.343A>G, XM_047442523.1:c.273A>G, NR_033124.1:n.270A>G, XM_047442525.1:c.273A>G, NR_033134.1:n.447A>G, NR_033132.1:n.362A>G, NR_033129.1:n.343A>G, NP_001034299.3:p.Lys72Glu

                                    18.

                                    rs1057521748 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      X:111685057 (GRCh38)
                                      X:110928285 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:111685056:G:A
                                      Gene:
                                      ALG13 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by cluster
                                      HGVS:
                                      NC_000023.11:g.111685057G>A, NC_000023.10:g.110928285G>A, NG_016238.1:g.8940G>A, NM_018466.6:c.337G>A, NM_018466.5:c.337G>A, NM_018466.4:c.337G>A, NM_001039210.5:c.278G>A, NM_001039210.4:c.278G>A, NM_001039210.3:c.278G>A, NM_001099922.3:c.337G>A, NM_001099922.2:c.337G>A, NM_001257240.3:c.25G>A, NM_001257240.2:c.25G>A, NM_001257240.1:c.25G>A, NM_001257241.3:c.103G>A, NM_001257241.2:c.103G>A, NM_001257241.1:c.103G>A, NM_001257239.3:c.25G>A, NM_001257239.2:c.25G>A, NM_001257239.1:c.25G>A, NM_001168385.3:c.337G>A, NM_001168385.2:c.337G>A, NM_001168385.1:c.337G>A, NM_001257235.3:c.25G>A, NM_001257235.2:c.25G>A, NM_001257235.1:c.25G>A, NR_033125.3:n.282G>A, NR_033125.2:n.334G>A, NR_033125.1:n.334G>A, NM_001257231.2:c.103G>A, NM_001257231.1:c.103G>A, NM_001257237.2:c.25G>A, NM_001257237.1:c.25G>A, NM_001257234.2:c.25G>A, NM_001257234.1:c.25G>A, NM_001324292.2:c.337G>A, NM_001324292.1:c.337G>A, NM_001257230.2:c.25G>A, NM_001257230.1:c.25G>A, NR_148693.2:n.386G>A, NR_148693.1:n.438G>A, NR_136735.2:n.407G>A, NR_136735.1:n.407G>A, NM_001324290.2:c.343G>A, NM_001324290.1:c.343G>A, NM_001324294.2:c.25G>A, NM_001324294.1:c.25G>A, NM_001324291.2:c.25G>A, NM_001324291.1:c.25G>A, NM_001324293.1:c.25G>A, XM_011531033.4:c.25G>A, XM_011531033.3:c.25G>A, XM_011531033.2:c.25G>A, XM_011531033.1:c.25G>A, XM_006724698.4:c.25G>A, XM_006724698.3:c.25G>A, XM_006724698.2:c.25G>A, XM_006724698.1:c.25G>A, XM_006724697.4:c.25G>A, XM_006724697.3:c.25G>A, XM_006724697.2:c.25G>A, XM_006724697.1:c.25G>A, XM_006724693.4:c.337G>A, XM_006724693.3:c.337G>A, XM_006724693.2:c.337G>A, XM_006724693.1:c.337G>A, XM_011531028.3:c.337G>A, XM_011531028.2:c.337G>A, XM_011531028.1:c.337G>A, XM_011531030.3:c.337G>A, XM_011531030.2:c.337G>A, XM_011531030.1:c.337G>A, XM_011531034.3:c.-384G>A, XM_017029850.3:c.337G>A, XM_017029850.2:c.337G>A, XM_017029850.1:c.337G>A, XM_011531031.2:c.25G>A, XM_011531031.1:c.25G>A, XM_017029846.2:c.337G>A, XM_017029846.1:c.337G>A, XM_017029847.2:c.337G>A, XM_017029847.1:c.337G>A, XM_011531032.2:c.25G>A, XM_011531032.1:c.25G>A, XM_017029848.2:c.337G>A, XM_017029848.1:c.337G>A, XM_017029849.2:c.337G>A, XM_017029849.1:c.337G>A, XM_024452449.2:c.337G>A, XM_024452449.1:c.337G>A, NR_033127.1:n.452G>A, XM_047442520.1:c.337G>A, XM_047442524.1:c.25G>A, XM_047442521.1:c.337G>A, NR_033131.1:n.511G>A, XM_047442522.1:c.337G>A, NR_033128.1:n.407G>A, XM_047442523.1:c.337G>A, NR_033124.1:n.334G>A, XM_047442525.1:c.337G>A, XM_047442526.1:c.-212G>A, XM_047442529.1:c.-575G>A, XM_047442528.1:c.-404G>A, NR_033134.1:n.511G>A, NR_033132.1:n.426G>A, NR_033129.1:n.407G>A, NP_060936.1:p.Ala113Thr, NP_001034299.3:p.Gly93Asp, NP_001093392.1:p.Ala113Thr, NP_001244169.1:p.Ala9Thr, NP_001244170.1:p.Ala35Thr, NP_001244168.1:p.Ala9Thr, NP_001161857.1:p.Ala113Thr, NP_001244164.1:p.Ala9Thr, NP_001244160.1:p.Ala35Thr, NP_001244166.1:p.Ala9Thr, NP_001244163.1:p.Ala9Thr, NP_001311221.1:p.Ala113Thr, NP_001244159.1:p.Ala9Thr, NP_001311219.1:p.Ala115Thr, NP_001311223.1:p.Ala9Thr, NP_001311220.1:p.Ala9Thr, NP_001311222.1:p.Ala9Thr, XP_011529335.1:p.Ala9Thr, XP_006724761.2:p.Ala9Thr, XP_006724760.2:p.Ala9Thr, XP_006724756.1:p.Ala113Thr, XP_011529330.1:p.Ala113Thr, XP_011529332.1:p.Ala113Thr, XP_016885339.1:p.Ala113Thr, XP_011529333.1:p.Ala9Thr, XP_016885335.1:p.Ala113Thr, XP_016885336.1:p.Ala113Thr, XP_011529334.1:p.Ala9Thr, XP_016885337.1:p.Ala113Thr, XP_016885338.1:p.Ala113Thr, XP_024308217.1:p.Ala113Thr, XP_047298476.1:p.Ala113Thr, XP_047298480.1:p.Ala9Thr, XP_047298477.1:p.Ala113Thr, XP_047298478.1:p.Ala113Thr, XP_047298479.1:p.Ala113Thr, XP_047298481.1:p.Ala113Thr

                                      19.

                                      rs926361487 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        X:111687995 (GRCh38)
                                        X:110931223 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:111687994:A:G
                                        Gene:
                                        ALG13 (Varview)
                                        Functional Consequence:
                                        intron_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.00001/1 (GnomAD)
                                        HGVS:
                                        NC_000023.11:g.111687995A>G, NC_000023.10:g.110931223A>G, NG_016238.1:g.11878A>G, NM_018466.6:c.492A>G, NM_018466.5:c.492A>G, NM_018466.4:c.492A>G, NM_001039210.5:c.*16A>G, NM_001039210.4:c.*16A>G, NM_001039210.3:c.*16A>G, NM_001257240.3:c.180A>G, NM_001257240.2:c.180A>G, NM_001257240.1:c.180A>G, NM_001257241.3:c.258A>G, NM_001257241.2:c.258A>G, NM_001257241.1:c.258A>G, NM_001257239.3:c.180A>G, NM_001257239.2:c.180A>G, NM_001257239.1:c.180A>G, NM_001168385.3:c.*128A>G, NM_001168385.2:c.*128A>G, NM_001168385.1:c.*128A>G, NM_001257235.3:c.180A>G, NM_001257235.2:c.180A>G, NM_001257235.1:c.180A>G, NR_033125.3:n.475A>G, NR_033125.2:n.527A>G, NR_033125.1:n.527A>G, NR_136735.2:n.600A>G, NR_136735.1:n.600A>G, NM_001324290.2:c.498A>G, NM_001324290.1:c.498A>G, NM_001324294.2:c.180A>G, NM_001324294.1:c.180A>G, NM_001324291.2:c.180A>G, NM_001324291.1:c.180A>G, NR_033134.1:n.666A>G, NR_033132.1:n.581A>G, NR_033129.1:n.562A>G

                                        20.

                                        rs887878543 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          X:111685075 (GRCh38)
                                          X:110928303 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:111685074:G:C
                                          Gene:
                                          ALG13 (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:
                                          NC_000023.11:g.111685075G>C, NC_000023.10:g.110928303G>C, NG_016238.1:g.8958G>C, NM_018466.6:c.355G>C, NM_018466.5:c.355G>C, NM_018466.4:c.355G>C, NM_001039210.5:c.296G>C, NM_001039210.4:c.296G>C, NM_001039210.3:c.296G>C, NM_001099922.3:c.355G>C, NM_001099922.2:c.355G>C, NM_001257240.3:c.43G>C, NM_001257240.2:c.43G>C, NM_001257240.1:c.43G>C, NM_001257241.3:c.121G>C, NM_001257241.2:c.121G>C, NM_001257241.1:c.121G>C, NM_001257239.3:c.43G>C, NM_001257239.2:c.43G>C, NM_001257239.1:c.43G>C, NM_001168385.3:c.355G>C, NM_001168385.2:c.355G>C, NM_001168385.1:c.355G>C, NM_001257235.3:c.43G>C, NM_001257235.2:c.43G>C, NM_001257235.1:c.43G>C, NR_033125.3:n.300G>C, NR_033125.2:n.352G>C, NR_033125.1:n.352G>C, NM_001257231.2:c.121G>C, NM_001257231.1:c.121G>C, NM_001257237.2:c.43G>C, NM_001257237.1:c.43G>C, NM_001257234.2:c.43G>C, NM_001257234.1:c.43G>C, NM_001324292.2:c.355G>C, NM_001324292.1:c.355G>C, NM_001257230.2:c.43G>C, NM_001257230.1:c.43G>C, NR_148693.2:n.404G>C, NR_148693.1:n.456G>C, NR_136735.2:n.425G>C, NR_136735.1:n.425G>C, NM_001324290.2:c.361G>C, NM_001324290.1:c.361G>C, NM_001324294.2:c.43G>C, NM_001324294.1:c.43G>C, NM_001324291.2:c.43G>C, NM_001324291.1:c.43G>C, NM_001324293.1:c.43G>C, XM_011531033.4:c.43G>C, XM_011531033.3:c.43G>C, XM_011531033.2:c.43G>C, XM_011531033.1:c.43G>C, XM_006724698.4:c.43G>C, XM_006724698.3:c.43G>C, XM_006724698.2:c.43G>C, XM_006724698.1:c.43G>C, XM_006724697.4:c.43G>C, XM_006724697.3:c.43G>C, XM_006724697.2:c.43G>C, XM_006724697.1:c.43G>C, XM_006724693.4:c.355G>C, XM_006724693.3:c.355G>C, XM_006724693.2:c.355G>C, XM_006724693.1:c.355G>C, XM_011531028.3:c.355G>C, XM_011531028.2:c.355G>C, XM_011531028.1:c.355G>C, XM_011531030.3:c.355G>C, XM_011531030.2:c.355G>C, XM_011531030.1:c.355G>C, XM_011531034.3:c.-366G>C, XM_017029850.3:c.355G>C, XM_017029850.2:c.355G>C, XM_017029850.1:c.355G>C, XM_011531031.2:c.43G>C, XM_011531031.1:c.43G>C, XM_017029846.2:c.355G>C, XM_017029846.1:c.355G>C, XM_017029847.2:c.355G>C, XM_017029847.1:c.355G>C, XM_011531032.2:c.43G>C, XM_011531032.1:c.43G>C, XM_017029848.2:c.355G>C, XM_017029848.1:c.355G>C, XM_017029849.2:c.355G>C, XM_017029849.1:c.355G>C, XM_024452449.2:c.355G>C, XM_024452449.1:c.355G>C, NR_033127.1:n.470G>C, XM_047442520.1:c.355G>C, XM_047442524.1:c.43G>C, XM_047442521.1:c.355G>C, NR_033131.1:n.529G>C, XM_047442522.1:c.355G>C, NR_033128.1:n.425G>C, XM_047442523.1:c.355G>C, NR_033124.1:n.352G>C, XM_047442525.1:c.355G>C, XM_047442526.1:c.-194G>C, XM_047442529.1:c.-557G>C, XM_047442528.1:c.-386G>C, NR_033134.1:n.529G>C, NR_033132.1:n.444G>C, NR_033129.1:n.425G>C, NP_060936.1:p.Glu119Gln, NP_001034299.3:p.Arg99Thr, NP_001093392.1:p.Glu119Gln, NP_001244169.1:p.Glu15Gln, NP_001244170.1:p.Glu41Gln, NP_001244168.1:p.Glu15Gln, NP_001161857.1:p.Glu119Gln, NP_001244164.1:p.Glu15Gln, NP_001244160.1:p.Glu41Gln, NP_001244166.1:p.Glu15Gln, NP_001244163.1:p.Glu15Gln, NP_001311221.1:p.Glu119Gln, NP_001244159.1:p.Glu15Gln, NP_001311219.1:p.Glu121Gln, NP_001311223.1:p.Glu15Gln, NP_001311220.1:p.Glu15Gln, NP_001311222.1:p.Glu15Gln, XP_011529335.1:p.Glu15Gln, XP_006724761.2:p.Glu15Gln, XP_006724760.2:p.Glu15Gln, XP_006724756.1:p.Glu119Gln, XP_011529330.1:p.Glu119Gln, XP_011529332.1:p.Glu119Gln, XP_016885339.1:p.Glu119Gln, XP_011529333.1:p.Glu15Gln, XP_016885335.1:p.Glu119Gln, XP_016885336.1:p.Glu119Gln, XP_011529334.1:p.Glu15Gln, XP_016885337.1:p.Glu119Gln, XP_016885338.1:p.Glu119Gln, XP_024308217.1:p.Glu119Gln, XP_047298476.1:p.Glu119Gln, XP_047298480.1:p.Glu15Gln, XP_047298477.1:p.Glu119Gln, XP_047298478.1:p.Glu119Gln, XP_047298479.1:p.Glu119Gln, XP_047298481.1:p.Glu119Gln

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