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Items: 1 to 20 of 669

1.

rs1489752764 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    2:112725530 (GRCh38)
    2:113483107 (GRCh37)
    Canonical SPDI:
    NC_000002.12:112725529:G:A
    Gene:
    NT5DC4 (Varview)
    Functional Consequence:
    intron_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant,stop_gained,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000007/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.112725530G>A, NC_000002.11:g.113483107G>A, XM_011512262.3:c.1323G>A, XM_011512262.2:c.1323G>A, XM_011512262.1:c.1323G>A, XM_011512265.3:c.702G>A, XM_011512265.2:c.702G>A, XM_011512265.1:c.702G>A, XR_002959267.2:n.1386G>A, XR_002959267.1:n.1386G>A, XR_001739644.2:n.1368G>A, XR_001739644.1:n.1368G>A, XR_002959269.2:n.1386G>A, XR_002959269.1:n.1386G>A, XM_024452806.2:c.1338G>A, XM_024452806.1:c.1338G>A, XM_024452802.2:c.1338G>A, XM_024452802.1:c.1338G>A, XR_002959268.2:n.1386G>A, XR_002959268.1:n.1386G>A, XM_024452799.2:c.1338G>A, XM_024452799.1:c.1338G>A, XM_024452800.2:c.1320G>A, XM_024452800.1:c.1320G>A, XM_017005477.2:c.1059G>A, XM_017005477.1:c.1059G>A, XM_017005474.2:c.1305G>A, XM_017005474.1:c.1305G>A, XM_024452803.2:c.1212G>A, XM_024452803.1:c.1212G>A, XM_024452804.2:c.1338G>A, XM_024452804.1:c.1338G>A, NM_001350494.2:c.1035G>A, NM_001350494.1:c.1035G>A, XM_017005476.2:c.1131G>A, XM_017005476.1:c.1131G>A, XM_024452805.2:c.1338G>A, XM_024452805.1:c.1338G>A, XM_017005478.2:c.1002G>A, XM_017005478.1:c.1002G>A, XM_017005475.1:c.1305G>A, XR_002959270.1:n.1386G>A, NM_001393655.1:c.1131G>A, XM_047443973.1:c.1253G>A, XP_047299929.1:p.Trp418Ter

    2.

    rs1489365368 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      2:112721543 (GRCh38)
      2:113479120 (GRCh37)
      Canonical SPDI:
      NC_000002.12:112721542:G:A,NC_000002.12:112721542:G:T
      Gene:
      NT5DC4 (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      T=0.000007/1 (GnomAD_exomes)
      HGVS:
      NC_000002.12:g.112721543G>A, NC_000002.12:g.112721543G>T, NC_000002.11:g.113479120G>A, NC_000002.11:g.113479120G>T, XM_011512262.3:c.7G>A, XM_011512262.3:c.7G>T, XM_011512262.2:c.7G>A, XM_011512262.2:c.7G>T, XM_011512262.1:c.7G>A, XM_011512262.1:c.7G>T, XR_002959267.2:n.55G>A, XR_002959267.2:n.55G>T, XR_002959267.1:n.55G>A, XR_002959267.1:n.55G>T, XR_001739644.2:n.55G>A, XR_001739644.2:n.55G>T, XR_001739644.1:n.55G>A, XR_001739644.1:n.55G>T, XR_002959269.2:n.55G>A, XR_002959269.2:n.55G>T, XR_002959269.1:n.55G>A, XR_002959269.1:n.55G>T, XM_024452806.2:c.7G>A, XM_024452806.2:c.7G>T, XM_024452806.1:c.7G>A, XM_024452806.1:c.7G>T, XM_024452802.2:c.7G>A, XM_024452802.2:c.7G>T, XM_024452802.1:c.7G>A, XM_024452802.1:c.7G>T, XR_002959268.2:n.55G>A, XR_002959268.2:n.55G>T, XR_002959268.1:n.55G>A, XR_002959268.1:n.55G>T, XM_024452799.2:c.7G>A, XM_024452799.2:c.7G>T, XM_024452799.1:c.7G>A, XM_024452799.1:c.7G>T, XM_024452800.2:c.7G>A, XM_024452800.2:c.7G>T, XM_024452800.1:c.7G>A, XM_024452800.1:c.7G>T, XM_017005474.2:c.7G>A, XM_017005474.2:c.7G>T, XM_017005474.1:c.7G>A, XM_017005474.1:c.7G>T, XM_024452803.2:c.7G>A, XM_024452803.2:c.7G>T, XM_024452803.1:c.7G>A, XM_024452803.1:c.7G>T, XM_024452804.2:c.7G>A, XM_024452804.2:c.7G>T, XM_024452804.1:c.7G>A, XM_024452804.1:c.7G>T, NM_001350494.2:c.7G>A, NM_001350494.2:c.7G>T, NM_001350494.1:c.7G>A, NM_001350494.1:c.7G>T, XM_024452807.2:c.7G>A, XM_024452807.2:c.7G>T, XM_024452807.1:c.7G>A, XM_024452807.1:c.7G>T, XM_024452805.2:c.7G>A, XM_024452805.2:c.7G>T, XM_024452805.1:c.7G>A, XM_024452805.1:c.7G>T, XM_024452808.2:c.7G>A, XM_024452808.2:c.7G>T, XM_024452808.1:c.7G>A, XM_024452808.1:c.7G>T, XM_017005475.1:c.7G>A, XM_017005475.1:c.7G>T, XR_002959270.1:n.55G>A, XR_002959270.1:n.55G>T, XR_002959272.1:n.55G>A, XR_002959272.1:n.55G>T, XR_002959273.1:n.55G>A, XR_002959273.1:n.55G>T, XM_047443973.1:c.7G>A, XM_047443973.1:c.7G>T, XM_024452810.1:c.7G>A, XM_024452810.1:c.7G>T, XR_002959275.1:n.55G>A, XR_002959275.1:n.55G>T, XR_002959274.1:n.55G>A, XR_002959274.1:n.55G>T, XR_002959276.1:n.55G>A, XR_002959276.1:n.55G>T, XM_024452809.1:c.7G>A, XM_024452809.1:c.7G>T, XM_047443974.1:c.7G>A, XM_047443974.1:c.7G>T, XP_011510564.1:p.Ala3Thr, XP_011510564.1:p.Ala3Ser, XP_024308574.1:p.Ala3Thr, XP_024308574.1:p.Ala3Ser, XP_024308570.1:p.Ala3Thr, XP_024308570.1:p.Ala3Ser, XP_024308567.1:p.Ala3Thr, XP_024308567.1:p.Ala3Ser, XP_024308568.1:p.Ala3Thr, XP_024308568.1:p.Ala3Ser, XP_016860963.1:p.Ala3Thr, XP_016860963.1:p.Ala3Ser, XP_024308571.1:p.Ala3Thr, XP_024308571.1:p.Ala3Ser, XP_024308572.1:p.Ala3Thr, XP_024308572.1:p.Ala3Ser, NP_001337423.1:p.Ala3Thr, NP_001337423.1:p.Ala3Ser, XP_024308575.1:p.Ala3Thr, XP_024308575.1:p.Ala3Ser, XP_024308573.1:p.Ala3Thr, XP_024308573.1:p.Ala3Ser, XP_024308576.1:p.Ala3Thr, XP_024308576.1:p.Ala3Ser, XP_016860964.1:p.Ala3Thr, XP_016860964.1:p.Ala3Ser, XP_047299929.1:p.Ala3Thr, XP_047299929.1:p.Ala3Ser, XP_024308578.1:p.Ala3Thr, XP_024308578.1:p.Ala3Ser, XP_024308577.1:p.Ala3Thr, XP_024308577.1:p.Ala3Ser, XP_047299930.1:p.Ala3Thr, XP_047299930.1:p.Ala3Ser

      3.

      rs1487237655 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:112722540 (GRCh38)
        2:113480117 (GRCh37)
        Canonical SPDI:
        NC_000002.12:112722539:G:A
        Gene:
        NT5DC4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
        HGVS:
        NC_000002.12:g.112722540G>A, NC_000002.11:g.113480117G>A, XM_011512262.3:c.612G>A, XM_011512262.2:c.612G>A, XM_011512262.1:c.612G>A, XR_002959267.2:n.675G>A, XR_002959267.1:n.675G>A, XR_001739644.2:n.675G>A, XR_001739644.1:n.675G>A, XR_002959269.2:n.675G>A, XR_002959269.1:n.675G>A, XM_024452806.2:c.627G>A, XM_024452806.1:c.627G>A, XM_024452802.2:c.627G>A, XM_024452802.1:c.627G>A, XR_002959268.2:n.675G>A, XR_002959268.1:n.675G>A, XM_024452799.2:c.627G>A, XM_024452799.1:c.627G>A, XM_024452800.2:c.627G>A, XM_024452800.1:c.627G>A, XM_017005477.2:c.348G>A, XM_017005477.1:c.348G>A, XM_017005474.2:c.612G>A, XM_017005474.1:c.612G>A, XM_024452803.2:c.627G>A, XM_024452803.1:c.627G>A, XM_024452804.2:c.627G>A, XM_024452804.1:c.627G>A, NM_001350494.2:c.342G>A, NM_001350494.1:c.342G>A, XM_024452807.2:c.627G>A, XM_024452807.1:c.627G>A, XM_017005476.2:c.420G>A, XM_017005476.1:c.420G>A, XM_024452805.2:c.627G>A, XM_024452805.1:c.627G>A, XM_017005478.2:c.291G>A, XM_017005478.1:c.291G>A, XM_024452808.2:c.627G>A, XM_024452808.1:c.627G>A, XM_017005475.1:c.612G>A, XR_002959270.1:n.675G>A, XR_002959272.1:n.675G>A, XR_002959273.1:n.675G>A, NM_001393655.1:c.420G>A, XM_047443973.1:c.627G>A, XM_024452810.1:c.627G>A, XR_002959275.1:n.675G>A, XR_002959274.1:n.675G>A, XR_002959276.1:n.675G>A, XM_024452809.1:c.627G>A, XM_047443974.1:c.627G>A

        4.

        rs1487173468 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          2:112725184 (GRCh38)
          2:113482761 (GRCh37)
          Canonical SPDI:
          NC_000002.12:112725183:A:G
          Gene:
          NT5DC4 (Varview)
          Functional Consequence:
          intron_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
          HGVS:
          NC_000002.12:g.112725184A>G, NC_000002.11:g.113482761A>G, XM_011512262.3:c.1118A>G, XM_011512262.2:c.1118A>G, XM_011512262.1:c.1118A>G, XM_011512265.3:c.497A>G, XM_011512265.2:c.497A>G, XM_011512265.1:c.497A>G, XR_002959267.2:n.1181A>G, XR_002959267.1:n.1181A>G, XR_001739644.2:n.1163A>G, XR_001739644.1:n.1163A>G, XR_002959269.2:n.1181A>G, XR_002959269.1:n.1181A>G, XM_024452806.2:c.1133A>G, XM_024452806.1:c.1133A>G, XM_024452802.2:c.1133A>G, XM_024452802.1:c.1133A>G, XR_002959268.2:n.1181A>G, XR_002959268.1:n.1181A>G, XM_024452799.2:c.1133A>G, XM_024452799.1:c.1133A>G, XM_024452800.2:c.1115A>G, XM_024452800.1:c.1115A>G, XM_017005477.2:c.854A>G, XM_017005477.1:c.854A>G, XM_017005474.2:c.1100A>G, XM_017005474.1:c.1100A>G, XM_024452803.2:c.1007A>G, XM_024452803.1:c.1007A>G, XM_024452804.2:c.1133A>G, XM_024452804.1:c.1133A>G, NM_001350494.2:c.830A>G, NM_001350494.1:c.830A>G, XM_024452807.2:c.1133A>G, XM_024452807.1:c.1133A>G, XM_017005476.2:c.926A>G, XM_017005476.1:c.926A>G, XM_024452805.2:c.1133A>G, XM_024452805.1:c.1133A>G, XM_017005478.2:c.797A>G, XM_017005478.1:c.797A>G, XM_024452808.2:c.1007A>G, XM_024452808.1:c.1007A>G, XM_017005475.1:c.1100A>G, XR_002959270.1:n.1181A>G, NM_001393655.1:c.926A>G, XR_002959274.1:n.1183A>G, XP_011510564.1:p.Lys373Arg, XP_011510567.1:p.Lys166Arg, XP_024308574.1:p.Lys378Arg, XP_024308570.1:p.Lys378Arg, XP_024308567.1:p.Lys378Arg, XP_024308568.1:p.Lys372Arg, XP_016860966.1:p.Lys285Arg, XP_016860963.1:p.Lys367Arg, XP_024308571.1:p.Lys336Arg, XP_024308572.1:p.Lys378Arg, NP_001337423.1:p.Lys277Arg, XP_024308575.1:p.Lys378Arg, XP_016860965.1:p.Lys309Arg, XP_024308573.1:p.Lys378Arg, XP_016860967.1:p.Lys266Arg, XP_024308576.1:p.Lys336Arg, XP_016860964.1:p.Lys367Arg, NP_001380584.1:p.Lys309Arg

          5.

          rs1485276346 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            2:112721775 (GRCh38)
            2:113479352 (GRCh37)
            Canonical SPDI:
            NC_000002.12:112721774:G:T
            Gene:
            NT5DC4 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            T=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.112721775G>T, NC_000002.11:g.113479352G>T, XM_011512262.3:c.239G>T, XM_011512262.2:c.239G>T, XM_011512262.1:c.239G>T, XR_002959267.2:n.287G>T, XR_002959267.1:n.287G>T, XR_001739644.2:n.287G>T, XR_001739644.1:n.287G>T, XR_002959269.2:n.287G>T, XR_002959269.1:n.287G>T, XM_024452806.2:c.239G>T, XM_024452806.1:c.239G>T, XM_024452802.2:c.239G>T, XM_024452802.1:c.239G>T, XR_002959268.2:n.287G>T, XR_002959268.1:n.287G>T, XM_024452799.2:c.239G>T, XM_024452799.1:c.239G>T, XM_024452800.2:c.239G>T, XM_024452800.1:c.239G>T, XM_017005474.2:c.239G>T, XM_017005474.1:c.239G>T, XM_024452803.2:c.239G>T, XM_024452803.1:c.239G>T, XM_024452804.2:c.239G>T, XM_024452804.1:c.239G>T, XM_024452807.2:c.239G>T, XM_024452807.1:c.239G>T, XM_024452805.2:c.239G>T, XM_024452805.1:c.239G>T, XM_024452808.2:c.239G>T, XM_024452808.1:c.239G>T, XM_017005475.1:c.239G>T, XR_002959270.1:n.287G>T, XR_002959272.1:n.287G>T, XR_002959273.1:n.287G>T, XM_047443973.1:c.239G>T, XM_024452810.1:c.239G>T, XR_002959275.1:n.287G>T, XR_002959274.1:n.287G>T, XR_002959276.1:n.287G>T, XM_024452809.1:c.239G>T, XM_047443974.1:c.239G>T, XP_011510564.1:p.Gly80Val, XP_024308574.1:p.Gly80Val, XP_024308570.1:p.Gly80Val, XP_024308567.1:p.Gly80Val, XP_024308568.1:p.Gly80Val, XP_016860963.1:p.Gly80Val, XP_024308571.1:p.Gly80Val, XP_024308572.1:p.Gly80Val, XP_024308575.1:p.Gly80Val, XP_024308573.1:p.Gly80Val, XP_024308576.1:p.Gly80Val, XP_016860964.1:p.Gly80Val, XP_047299929.1:p.Gly80Val, XP_024308578.1:p.Gly80Val, XP_024308577.1:p.Gly80Val, XP_047299930.1:p.Gly80Val

            6.

            rs1484782007 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:112722231 (GRCh38)
              2:113479808 (GRCh37)
              Canonical SPDI:
              NC_000002.12:112722230:C:T
              Gene:
              NT5DC4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000007/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.112722231C>T, NC_000002.11:g.113479808C>T, XM_011512262.3:c.522C>T, XM_011512262.2:c.522C>T, XM_011512262.1:c.522C>T, XM_011512265.3:c.-8C>T, XM_011512265.2:c.-8C>T, XM_011512265.1:c.-8C>T, XR_002959267.2:n.570C>T, XR_002959267.1:n.570C>T, XR_001739644.2:n.570C>T, XR_001739644.1:n.570C>T, XR_002959269.2:n.570C>T, XR_002959269.1:n.570C>T, XM_024452806.2:c.522C>T, XM_024452806.1:c.522C>T, XM_024452802.2:c.522C>T, XM_024452802.1:c.522C>T, XR_002959268.2:n.570C>T, XR_002959268.1:n.570C>T, XM_024452799.2:c.522C>T, XM_024452799.1:c.522C>T, XM_024452800.2:c.522C>T, XM_024452800.1:c.522C>T, XM_017005477.2:c.243C>T, XM_017005477.1:c.243C>T, XM_017005474.2:c.522C>T, XM_017005474.1:c.522C>T, XM_024452803.2:c.522C>T, XM_024452803.1:c.522C>T, XM_024452804.2:c.522C>T, XM_024452804.1:c.522C>T, NM_001350494.2:c.252C>T, NM_001350494.1:c.252C>T, XM_024452807.2:c.522C>T, XM_024452807.1:c.522C>T, XM_017005476.2:c.315C>T, XM_017005476.1:c.315C>T, XM_024452805.2:c.522C>T, XM_024452805.1:c.522C>T, XM_017005478.2:c.186C>T, XM_017005478.1:c.186C>T, XM_024452808.2:c.522C>T, XM_024452808.1:c.522C>T, XM_017005475.1:c.522C>T, XR_002959270.1:n.570C>T, XR_002959272.1:n.570C>T, XR_002959273.1:n.570C>T, NM_001393655.1:c.315C>T, XM_047443973.1:c.522C>T, XM_024452810.1:c.522C>T, XR_002959275.1:n.570C>T, XR_002959274.1:n.570C>T, XR_002959276.1:n.570C>T, XM_024452809.1:c.522C>T, XM_047443974.1:c.522C>T

              7.

              rs1484446537 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                2:112721745 (GRCh38)
                2:113479322 (GRCh37)
                Canonical SPDI:
                NC_000002.12:112721744:C:A
                Gene:
                NT5DC4 (Varview)
                Functional Consequence:
                upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000019/5 (TOPMED)
                A=0.000029/4 (GnomAD)
                HGVS:
                NC_000002.12:g.112721745C>A, NC_000002.11:g.113479322C>A, XM_011512262.3:c.209C>A, XM_011512262.2:c.209C>A, XM_011512262.1:c.209C>A, XR_002959267.2:n.257C>A, XR_002959267.1:n.257C>A, XR_001739644.2:n.257C>A, XR_001739644.1:n.257C>A, XR_002959269.2:n.257C>A, XR_002959269.1:n.257C>A, XM_024452806.2:c.209C>A, XM_024452806.1:c.209C>A, XM_024452802.2:c.209C>A, XM_024452802.1:c.209C>A, XR_002959268.2:n.257C>A, XR_002959268.1:n.257C>A, XM_024452799.2:c.209C>A, XM_024452799.1:c.209C>A, XM_024452800.2:c.209C>A, XM_024452800.1:c.209C>A, XM_017005474.2:c.209C>A, XM_017005474.1:c.209C>A, XM_024452803.2:c.209C>A, XM_024452803.1:c.209C>A, XM_024452804.2:c.209C>A, XM_024452804.1:c.209C>A, XM_024452807.2:c.209C>A, XM_024452807.1:c.209C>A, XM_024452805.2:c.209C>A, XM_024452805.1:c.209C>A, XM_024452808.2:c.209C>A, XM_024452808.1:c.209C>A, XM_017005475.1:c.209C>A, XR_002959270.1:n.257C>A, XR_002959272.1:n.257C>A, XR_002959273.1:n.257C>A, XM_047443973.1:c.209C>A, XM_024452810.1:c.209C>A, XR_002959275.1:n.257C>A, XR_002959274.1:n.257C>A, XR_002959276.1:n.257C>A, XM_024452809.1:c.209C>A, XM_047443974.1:c.209C>A, XP_011510564.1:p.Thr70Asn, XP_024308574.1:p.Thr70Asn, XP_024308570.1:p.Thr70Asn, XP_024308567.1:p.Thr70Asn, XP_024308568.1:p.Thr70Asn, XP_016860963.1:p.Thr70Asn, XP_024308571.1:p.Thr70Asn, XP_024308572.1:p.Thr70Asn, XP_024308575.1:p.Thr70Asn, XP_024308573.1:p.Thr70Asn, XP_024308576.1:p.Thr70Asn, XP_016860964.1:p.Thr70Asn, XP_047299929.1:p.Thr70Asn, XP_024308578.1:p.Thr70Asn, XP_024308577.1:p.Thr70Asn, XP_047299930.1:p.Thr70Asn

                8.

                rs1483341446 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:112729659 (GRCh38)
                  2:113487236 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:112729658:G:A
                  Gene:
                  NT5DC4 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000002.12:g.112729659G>A, NC_000002.11:g.113487236G>A, XM_011512262.3:c.1491G>A, XM_011512262.2:c.1491G>A, XM_011512262.1:c.1491G>A, XM_011512265.3:c.870G>A, XM_011512265.2:c.870G>A, XM_011512265.1:c.870G>A, XR_002959267.2:n.1732G>A, XR_002959267.1:n.1732G>A, XR_001739644.2:n.1714G>A, XR_001739644.1:n.1714G>A, XR_002959269.2:n.1732G>A, XR_002959269.1:n.1732G>A, XM_024452806.2:c.1506G>A, XM_024452806.1:c.1506G>A, XM_024452802.2:c.1506G>A, XM_024452802.1:c.1506G>A, XR_002959268.2:n.1732G>A, XR_002959268.1:n.1732G>A, XM_024452799.2:c.1506G>A, XM_024452799.1:c.1506G>A, XM_024452800.2:c.1488G>A, XM_024452800.1:c.1488G>A, XM_017005477.2:c.1227G>A, XM_017005477.1:c.1227G>A, XM_017005474.2:c.1473G>A, XM_017005474.1:c.1473G>A, XM_024452803.2:c.1380G>A, XM_024452803.1:c.1380G>A, XM_024452804.2:c.1506G>A, XM_024452804.1:c.1506G>A, NM_001350494.2:c.1203G>A, NM_001350494.1:c.1203G>A, XM_024452807.2:c.1335G>A, XM_024452807.1:c.1335G>A, XM_017005476.2:c.1299G>A, XM_017005476.1:c.1299G>A, XM_024452805.2:c.1506G>A, XM_024452805.1:c.1506G>A, XM_017005478.2:c.1170G>A, XM_017005478.1:c.1170G>A, XM_024452808.2:c.1209G>A, XM_024452808.1:c.1209G>A, XM_017005475.1:c.1473G>A, XR_002959270.1:n.1732G>A, NM_001393655.1:c.1299G>A

                  9.

                  rs1483121931 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    2:112723720 (GRCh38)
                    2:113481297 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:112723719:C:T
                    Gene:
                    NT5DC4 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.112723720C>T, NC_000002.11:g.113481297C>T, XM_011512262.3:c.866C>T, XM_011512262.2:c.866C>T, XM_011512262.1:c.866C>T, XM_011512265.3:c.245C>T, XM_011512265.2:c.245C>T, XM_011512265.1:c.245C>T, XR_002959267.2:n.929C>T, XR_002959267.1:n.929C>T, XR_001739644.2:n.929C>T, XR_001739644.1:n.929C>T, XR_002959269.2:n.929C>T, XR_002959269.1:n.929C>T, XM_024452806.2:c.881C>T, XM_024452806.1:c.881C>T, XM_024452802.2:c.881C>T, XM_024452802.1:c.881C>T, XR_002959268.2:n.929C>T, XR_002959268.1:n.929C>T, XM_024452799.2:c.881C>T, XM_024452799.1:c.881C>T, XM_024452800.2:c.881C>T, XM_024452800.1:c.881C>T, XM_017005477.2:c.602C>T, XM_017005477.1:c.602C>T, XM_017005474.2:c.866C>T, XM_017005474.1:c.866C>T, XM_024452803.2:c.881C>T, XM_024452803.1:c.881C>T, XM_024452804.2:c.881C>T, XM_024452804.1:c.881C>T, NM_001350494.2:c.596C>T, NM_001350494.1:c.596C>T, XM_024452807.2:c.881C>T, XM_024452807.1:c.881C>T, XM_017005476.2:c.674C>T, XM_017005476.1:c.674C>T, XM_024452805.2:c.881C>T, XM_024452805.1:c.881C>T, XM_017005478.2:c.545C>T, XM_017005478.1:c.545C>T, XM_024452808.2:c.881C>T, XM_024452808.1:c.881C>T, XM_017005475.1:c.866C>T, XR_002959270.1:n.929C>T, XR_002959272.1:n.929C>T, XR_002959273.1:n.929C>T, NM_001393655.1:c.674C>T, XM_047443973.1:c.881C>T, XM_024452810.1:c.881C>T, XR_002959275.1:n.929C>T, XR_002959274.1:n.929C>T, XR_002959276.1:n.929C>T, XM_024452809.1:c.881C>T, XM_047443974.1:c.881C>T, XP_011510564.1:p.Pro289Leu, XP_011510567.1:p.Pro82Leu, XP_024308574.1:p.Pro294Leu, XP_024308570.1:p.Pro294Leu, XP_024308567.1:p.Pro294Leu, XP_024308568.1:p.Pro294Leu, XP_016860966.1:p.Pro201Leu, XP_016860963.1:p.Pro289Leu, XP_024308571.1:p.Pro294Leu, XP_024308572.1:p.Pro294Leu, NP_001337423.1:p.Pro199Leu, XP_024308575.1:p.Pro294Leu, XP_016860965.1:p.Pro225Leu, XP_024308573.1:p.Pro294Leu, XP_016860967.1:p.Pro182Leu, XP_024308576.1:p.Pro294Leu, XP_016860964.1:p.Pro289Leu, NP_001380584.1:p.Pro225Leu, XP_047299929.1:p.Pro294Leu, XP_024308578.1:p.Pro294Leu, XP_024308577.1:p.Pro294Leu, XP_047299930.1:p.Pro294Leu

                    10.

                    rs1480141497 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:112721645 (GRCh38)
                      2:113479222 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:112721644:C:T
                      Gene:
                      NT5DC4 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000002.12:g.112721645C>T, NC_000002.11:g.113479222C>T, XM_011512262.3:c.109C>T, XM_011512262.2:c.109C>T, XM_011512262.1:c.109C>T, XR_002959267.2:n.157C>T, XR_002959267.1:n.157C>T, XR_001739644.2:n.157C>T, XR_001739644.1:n.157C>T, XR_002959269.2:n.157C>T, XR_002959269.1:n.157C>T, XM_024452806.2:c.109C>T, XM_024452806.1:c.109C>T, XM_024452802.2:c.109C>T, XM_024452802.1:c.109C>T, XR_002959268.2:n.157C>T, XR_002959268.1:n.157C>T, XM_024452799.2:c.109C>T, XM_024452799.1:c.109C>T, XM_024452800.2:c.109C>T, XM_024452800.1:c.109C>T, XM_017005474.2:c.109C>T, XM_017005474.1:c.109C>T, XM_024452803.2:c.109C>T, XM_024452803.1:c.109C>T, XM_024452804.2:c.109C>T, XM_024452804.1:c.109C>T, XM_024452807.2:c.109C>T, XM_024452807.1:c.109C>T, XM_024452805.2:c.109C>T, XM_024452805.1:c.109C>T, XM_024452808.2:c.109C>T, XM_024452808.1:c.109C>T, XM_017005475.1:c.109C>T, XR_002959270.1:n.157C>T, XR_002959272.1:n.157C>T, XR_002959273.1:n.157C>T, XM_047443973.1:c.109C>T, XM_024452810.1:c.109C>T, XR_002959275.1:n.157C>T, XR_002959274.1:n.157C>T, XR_002959276.1:n.157C>T, XM_024452809.1:c.109C>T, XM_047443974.1:c.109C>T, XP_011510564.1:p.His37Tyr, XP_024308574.1:p.His37Tyr, XP_024308570.1:p.His37Tyr, XP_024308567.1:p.His37Tyr, XP_024308568.1:p.His37Tyr, XP_016860963.1:p.His37Tyr, XP_024308571.1:p.His37Tyr, XP_024308572.1:p.His37Tyr, XP_024308575.1:p.His37Tyr, XP_024308573.1:p.His37Tyr, XP_024308576.1:p.His37Tyr, XP_016860964.1:p.His37Tyr, XP_047299929.1:p.His37Tyr, XP_024308578.1:p.His37Tyr, XP_024308577.1:p.His37Tyr, XP_047299930.1:p.His37Tyr

                      11.

                      rs1479236828 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        2:112722717 (GRCh38)
                        2:113480294 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:112722716:C:A
                        Gene:
                        NT5DC4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.112722717C>A, NC_000002.11:g.113480294C>A, XM_011512262.3:c.665C>A, XM_011512262.2:c.665C>A, XM_011512262.1:c.665C>A, XM_011512265.3:c.44C>A, XM_011512265.2:c.44C>A, XM_011512265.1:c.44C>A, XR_002959267.2:n.728C>A, XR_002959267.1:n.728C>A, XR_001739644.2:n.728C>A, XR_001739644.1:n.728C>A, XR_002959269.2:n.728C>A, XR_002959269.1:n.728C>A, XM_024452806.2:c.680C>A, XM_024452806.1:c.680C>A, XM_024452802.2:c.680C>A, XM_024452802.1:c.680C>A, XR_002959268.2:n.728C>A, XR_002959268.1:n.728C>A, XM_024452799.2:c.680C>A, XM_024452799.1:c.680C>A, XM_024452800.2:c.680C>A, XM_024452800.1:c.680C>A, XM_017005477.2:c.401C>A, XM_017005477.1:c.401C>A, XM_017005474.2:c.665C>A, XM_017005474.1:c.665C>A, XM_024452803.2:c.680C>A, XM_024452803.1:c.680C>A, XM_024452804.2:c.680C>A, XM_024452804.1:c.680C>A, NM_001350494.2:c.395C>A, NM_001350494.1:c.395C>A, XM_024452807.2:c.680C>A, XM_024452807.1:c.680C>A, XM_017005476.2:c.473C>A, XM_017005476.1:c.473C>A, XM_024452805.2:c.680C>A, XM_024452805.1:c.680C>A, XM_017005478.2:c.344C>A, XM_017005478.1:c.344C>A, XM_024452808.2:c.680C>A, XM_024452808.1:c.680C>A, XM_017005475.1:c.665C>A, XR_002959270.1:n.728C>A, XR_002959272.1:n.728C>A, XR_002959273.1:n.728C>A, NM_001393655.1:c.473C>A, XM_047443973.1:c.680C>A, XM_024452810.1:c.680C>A, XR_002959275.1:n.728C>A, XR_002959274.1:n.728C>A, XR_002959276.1:n.728C>A, XM_024452809.1:c.680C>A, XM_047443974.1:c.680C>A, XP_011510564.1:p.Thr222Asn, XP_011510567.1:p.Thr15Asn, XP_024308574.1:p.Thr227Asn, XP_024308570.1:p.Thr227Asn, XP_024308567.1:p.Thr227Asn, XP_024308568.1:p.Thr227Asn, XP_016860966.1:p.Thr134Asn, XP_016860963.1:p.Thr222Asn, XP_024308571.1:p.Thr227Asn, XP_024308572.1:p.Thr227Asn, NP_001337423.1:p.Thr132Asn, XP_024308575.1:p.Thr227Asn, XP_016860965.1:p.Thr158Asn, XP_024308573.1:p.Thr227Asn, XP_016860967.1:p.Thr115Asn, XP_024308576.1:p.Thr227Asn, XP_016860964.1:p.Thr222Asn, NP_001380584.1:p.Thr158Asn, XP_047299929.1:p.Thr227Asn, XP_024308578.1:p.Thr227Asn, XP_024308577.1:p.Thr227Asn, XP_047299930.1:p.Thr227Asn

                        12.

                        rs1479188638 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          2:112729703 (GRCh38)
                          2:113487280 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:112729702:G:A,NC_000002.12:112729702:G:C
                          Gene:
                          NT5DC4 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          HGVS:
                          NC_000002.12:g.112729703G>A, NC_000002.12:g.112729703G>C, NC_000002.11:g.113487280G>A, NC_000002.11:g.113487280G>C, XM_011512262.3:c.1535G>A, XM_011512262.3:c.1535G>C, XM_011512262.2:c.1535G>A, XM_011512262.2:c.1535G>C, XM_011512262.1:c.1535G>A, XM_011512262.1:c.1535G>C, XM_011512265.3:c.914G>A, XM_011512265.3:c.914G>C, XM_011512265.2:c.914G>A, XM_011512265.2:c.914G>C, XM_011512265.1:c.914G>A, XM_011512265.1:c.914G>C, XR_002959267.2:n.1776G>A, XR_002959267.2:n.1776G>C, XR_002959267.1:n.1776G>A, XR_002959267.1:n.1776G>C, XR_001739644.2:n.1758G>A, XR_001739644.2:n.1758G>C, XR_001739644.1:n.1758G>A, XR_001739644.1:n.1758G>C, XR_002959269.2:n.1776G>A, XR_002959269.2:n.1776G>C, XR_002959269.1:n.1776G>A, XR_002959269.1:n.1776G>C, XM_024452806.2:c.1550G>A, XM_024452806.2:c.1550G>C, XM_024452806.1:c.1550G>A, XM_024452806.1:c.1550G>C, XM_024452802.2:c.1550G>A, XM_024452802.2:c.1550G>C, XM_024452802.1:c.1550G>A, XM_024452802.1:c.1550G>C, XR_002959268.2:n.1776G>A, XR_002959268.2:n.1776G>C, XR_002959268.1:n.1776G>A, XR_002959268.1:n.1776G>C, XM_024452799.2:c.1550G>A, XM_024452799.2:c.1550G>C, XM_024452799.1:c.1550G>A, XM_024452799.1:c.1550G>C, XM_024452800.2:c.1532G>A, XM_024452800.2:c.1532G>C, XM_024452800.1:c.1532G>A, XM_024452800.1:c.1532G>C, XM_017005477.2:c.1271G>A, XM_017005477.2:c.1271G>C, XM_017005477.1:c.1271G>A, XM_017005477.1:c.1271G>C, XM_017005474.2:c.1517G>A, XM_017005474.2:c.1517G>C, XM_017005474.1:c.1517G>A, XM_017005474.1:c.1517G>C, XM_024452803.2:c.1424G>A, XM_024452803.2:c.1424G>C, XM_024452803.1:c.1424G>A, XM_024452803.1:c.1424G>C, XM_024452804.2:c.1550G>A, XM_024452804.2:c.1550G>C, XM_024452804.1:c.1550G>A, XM_024452804.1:c.1550G>C, NM_001350494.2:c.1247G>A, NM_001350494.2:c.1247G>C, NM_001350494.1:c.1247G>A, NM_001350494.1:c.1247G>C, XM_024452807.2:c.1379G>A, XM_024452807.2:c.1379G>C, XM_024452807.1:c.1379G>A, XM_024452807.1:c.1379G>C, XM_017005476.2:c.1343G>A, XM_017005476.2:c.1343G>C, XM_017005476.1:c.1343G>A, XM_017005476.1:c.1343G>C, XM_024452805.2:c.1550G>A, XM_024452805.2:c.1550G>C, XM_024452805.1:c.1550G>A, XM_024452805.1:c.1550G>C, XM_017005478.2:c.1214G>A, XM_017005478.2:c.1214G>C, XM_017005478.1:c.1214G>A, XM_017005478.1:c.1214G>C, XM_024452808.2:c.1253G>A, XM_024452808.2:c.1253G>C, XM_024452808.1:c.1253G>A, XM_024452808.1:c.1253G>C, XM_017005475.1:c.1517G>A, XM_017005475.1:c.1517G>C, XR_002959270.1:n.1776G>A, XR_002959270.1:n.1776G>C, NM_001393655.1:c.1343G>A, NM_001393655.1:c.1343G>C, XP_011510564.1:p.Arg512Lys, XP_011510564.1:p.Arg512Thr, XP_011510567.1:p.Arg305Lys, XP_011510567.1:p.Arg305Thr, XP_024308574.1:p.Arg517Lys, XP_024308574.1:p.Arg517Thr, XP_024308570.1:p.Arg517Lys, XP_024308570.1:p.Arg517Thr, XP_024308567.1:p.Arg517Lys, XP_024308567.1:p.Arg517Thr, XP_024308568.1:p.Arg511Lys, XP_024308568.1:p.Arg511Thr, XP_016860966.1:p.Arg424Lys, XP_016860966.1:p.Arg424Thr, XP_016860963.1:p.Arg506Lys, XP_016860963.1:p.Arg506Thr, XP_024308571.1:p.Arg475Lys, XP_024308571.1:p.Arg475Thr, XP_024308572.1:p.Arg517Lys, XP_024308572.1:p.Arg517Thr, NP_001337423.1:p.Arg416Lys, NP_001337423.1:p.Arg416Thr, XP_024308575.1:p.Arg460Lys, XP_024308575.1:p.Arg460Thr, XP_016860965.1:p.Arg448Lys, XP_016860965.1:p.Arg448Thr, XP_024308573.1:p.Arg517Lys, XP_024308573.1:p.Arg517Thr, XP_016860967.1:p.Arg405Lys, XP_016860967.1:p.Arg405Thr, XP_024308576.1:p.Arg418Lys, XP_024308576.1:p.Arg418Thr, XP_016860964.1:p.Arg506Lys, XP_016860964.1:p.Arg506Thr, NP_001380584.1:p.Arg448Lys, NP_001380584.1:p.Arg448Thr

                          13.

                          rs1478787552 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            2:112726720 (GRCh38)
                            2:113484297 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:112726719:C:T
                            Gene:
                            NT5DC4 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000111/1 (ALFA)
                            T=0.000007/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.112726720C>T, NC_000002.11:g.113484297C>T, XM_011512262.3:c.1440C>T, XM_011512262.2:c.1440C>T, XM_011512262.1:c.1440C>T, XM_011512265.3:c.819C>T, XM_011512265.2:c.819C>T, XM_011512265.1:c.819C>T, XR_002959267.2:n.1503C>T, XR_002959267.1:n.1503C>T, XR_001739644.2:n.1485C>T, XR_001739644.1:n.1485C>T, XR_002959269.2:n.1503C>T, XR_002959269.1:n.1503C>T, XM_024452806.2:c.1455C>T, XM_024452806.1:c.1455C>T, XM_024452802.2:c.1455C>T, XM_024452802.1:c.1455C>T, XR_002959268.2:n.1503C>T, XR_002959268.1:n.1503C>T, XM_024452799.2:c.1455C>T, XM_024452799.1:c.1455C>T, XM_024452800.2:c.1437C>T, XM_024452800.1:c.1437C>T, XM_017005477.2:c.1176C>T, XM_017005477.1:c.1176C>T, XM_017005474.2:c.1422C>T, XM_017005474.1:c.1422C>T, XM_024452803.2:c.1329C>T, XM_024452803.1:c.1329C>T, XM_024452804.2:c.1455C>T, XM_024452804.1:c.1455C>T, NM_001350494.2:c.1152C>T, NM_001350494.1:c.1152C>T, XM_024452807.2:c.1284C>T, XM_024452807.1:c.1284C>T, XM_017005476.2:c.1248C>T, XM_017005476.1:c.1248C>T, XM_024452805.2:c.1455C>T, XM_024452805.1:c.1455C>T, XM_017005478.2:c.1119C>T, XM_017005478.1:c.1119C>T, XM_024452808.2:c.1158C>T, XM_024452808.1:c.1158C>T, XM_017005475.1:c.1422C>T, XR_002959270.1:n.1503C>T, NM_001393655.1:c.1248C>T, XM_047443973.1:c.*77C>T, XM_047443974.1:c.*77C>T

                            14.

                            rs1478234259 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G,T [Show Flanks]
                              Chromosome:
                              2:112726712 (GRCh38)
                              2:113484289 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:112726711:A:G,NC_000002.12:112726711:A:T
                              Gene:
                              NT5DC4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000013/2 (GnomAD_exomes)
                              T=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000002.12:g.112726712A>G, NC_000002.12:g.112726712A>T, NC_000002.11:g.113484289A>G, NC_000002.11:g.113484289A>T, XM_011512262.3:c.1432A>G, XM_011512262.3:c.1432A>T, XM_011512262.2:c.1432A>G, XM_011512262.2:c.1432A>T, XM_011512262.1:c.1432A>G, XM_011512262.1:c.1432A>T, XM_011512265.3:c.811A>G, XM_011512265.3:c.811A>T, XM_011512265.2:c.811A>G, XM_011512265.2:c.811A>T, XM_011512265.1:c.811A>G, XM_011512265.1:c.811A>T, XR_002959267.2:n.1495A>G, XR_002959267.2:n.1495A>T, XR_002959267.1:n.1495A>G, XR_002959267.1:n.1495A>T, XR_001739644.2:n.1477A>G, XR_001739644.2:n.1477A>T, XR_001739644.1:n.1477A>G, XR_001739644.1:n.1477A>T, XR_002959269.2:n.1495A>G, XR_002959269.2:n.1495A>T, XR_002959269.1:n.1495A>G, XR_002959269.1:n.1495A>T, XM_024452806.2:c.1447A>G, XM_024452806.2:c.1447A>T, XM_024452806.1:c.1447A>G, XM_024452806.1:c.1447A>T, XM_024452802.2:c.1447A>G, XM_024452802.2:c.1447A>T, XM_024452802.1:c.1447A>G, XM_024452802.1:c.1447A>T, XR_002959268.2:n.1495A>G, XR_002959268.2:n.1495A>T, XR_002959268.1:n.1495A>G, XR_002959268.1:n.1495A>T, XM_024452799.2:c.1447A>G, XM_024452799.2:c.1447A>T, XM_024452799.1:c.1447A>G, XM_024452799.1:c.1447A>T, XM_024452800.2:c.1429A>G, XM_024452800.2:c.1429A>T, XM_024452800.1:c.1429A>G, XM_024452800.1:c.1429A>T, XM_017005477.2:c.1168A>G, XM_017005477.2:c.1168A>T, XM_017005477.1:c.1168A>G, XM_017005477.1:c.1168A>T, XM_017005474.2:c.1414A>G, XM_017005474.2:c.1414A>T, XM_017005474.1:c.1414A>G, XM_017005474.1:c.1414A>T, XM_024452803.2:c.1321A>G, XM_024452803.2:c.1321A>T, XM_024452803.1:c.1321A>G, XM_024452803.1:c.1321A>T, XM_024452804.2:c.1447A>G, XM_024452804.2:c.1447A>T, XM_024452804.1:c.1447A>G, XM_024452804.1:c.1447A>T, NM_001350494.2:c.1144A>G, NM_001350494.2:c.1144A>T, NM_001350494.1:c.1144A>G, NM_001350494.1:c.1144A>T, XM_024452807.2:c.1276A>G, XM_024452807.2:c.1276A>T, XM_024452807.1:c.1276A>G, XM_024452807.1:c.1276A>T, XM_017005476.2:c.1240A>G, XM_017005476.2:c.1240A>T, XM_017005476.1:c.1240A>G, XM_017005476.1:c.1240A>T, XM_024452805.2:c.1447A>G, XM_024452805.2:c.1447A>T, XM_024452805.1:c.1447A>G, XM_024452805.1:c.1447A>T, XM_017005478.2:c.1111A>G, XM_017005478.2:c.1111A>T, XM_017005478.1:c.1111A>G, XM_017005478.1:c.1111A>T, XM_024452808.2:c.1150A>G, XM_024452808.2:c.1150A>T, XM_024452808.1:c.1150A>G, XM_024452808.1:c.1150A>T, XM_017005475.1:c.1414A>G, XM_017005475.1:c.1414A>T, XR_002959270.1:n.1495A>G, XR_002959270.1:n.1495A>T, NM_001393655.1:c.1240A>G, NM_001393655.1:c.1240A>T, XM_047443973.1:c.*69A>G, XM_047443973.1:c.*69A>T, XM_047443974.1:c.*69A>G, XM_047443974.1:c.*69A>T, XP_011510564.1:p.Ile478Val, XP_011510564.1:p.Ile478Phe, XP_011510567.1:p.Ile271Val, XP_011510567.1:p.Ile271Phe, XP_024308574.1:p.Ile483Val, XP_024308574.1:p.Ile483Phe, XP_024308570.1:p.Ile483Val, XP_024308570.1:p.Ile483Phe, XP_024308567.1:p.Ile483Val, XP_024308567.1:p.Ile483Phe, XP_024308568.1:p.Ile477Val, XP_024308568.1:p.Ile477Phe, XP_016860966.1:p.Ile390Val, XP_016860966.1:p.Ile390Phe, XP_016860963.1:p.Ile472Val, XP_016860963.1:p.Ile472Phe, XP_024308571.1:p.Ile441Val, XP_024308571.1:p.Ile441Phe, XP_024308572.1:p.Ile483Val, XP_024308572.1:p.Ile483Phe, NP_001337423.1:p.Ile382Val, NP_001337423.1:p.Ile382Phe, XP_024308575.1:p.Ile426Val, XP_024308575.1:p.Ile426Phe, XP_016860965.1:p.Ile414Val, XP_016860965.1:p.Ile414Phe, XP_024308573.1:p.Ile483Val, XP_024308573.1:p.Ile483Phe, XP_016860967.1:p.Ile371Val, XP_016860967.1:p.Ile371Phe, XP_024308576.1:p.Ile384Val, XP_024308576.1:p.Ile384Phe, XP_016860964.1:p.Ile472Val, XP_016860964.1:p.Ile472Phe, NP_001380584.1:p.Ile414Val, NP_001380584.1:p.Ile414Phe

                              15.

                              rs1477853924 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                2:112724822 (GRCh38)
                                2:113482399 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:112724821:G:C
                                Gene:
                                NT5DC4 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,stop_lost,non_coding_transcript_variant,terminator_codon_variant,3_prime_UTR_variant,intron_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000014/2 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.112724822G>C, NC_000002.11:g.113482399G>C, XM_011512262.3:c.1023G>C, XM_011512262.2:c.1023G>C, XM_011512262.1:c.1023G>C, XM_011512265.3:c.402G>C, XM_011512265.2:c.402G>C, XM_011512265.1:c.402G>C, XR_002959267.2:n.1086G>C, XR_002959267.1:n.1086G>C, XR_001739644.2:n.1086G>C, XR_001739644.1:n.1086G>C, XR_002959269.2:n.1086G>C, XR_002959269.1:n.1086G>C, XM_024452806.2:c.1038G>C, XM_024452806.1:c.1038G>C, XM_024452802.2:c.1038G>C, XM_024452802.1:c.1038G>C, XR_002959268.2:n.1086G>C, XR_002959268.1:n.1086G>C, XM_024452799.2:c.1038G>C, XM_024452799.1:c.1038G>C, XM_024452800.2:c.1038G>C, XM_024452800.1:c.1038G>C, XM_017005477.2:c.759G>C, XM_017005477.1:c.759G>C, XM_017005474.2:c.1023G>C, XM_017005474.1:c.1023G>C, XM_024452804.2:c.1038G>C, XM_024452804.1:c.1038G>C, NM_001350494.2:c.753G>C, NM_001350494.1:c.753G>C, XM_024452807.2:c.1038G>C, XM_024452807.1:c.1038G>C, XM_017005476.2:c.831G>C, XM_017005476.1:c.831G>C, XM_024452805.2:c.1038G>C, XM_024452805.1:c.1038G>C, XM_017005478.2:c.702G>C, XM_017005478.1:c.702G>C, XM_017005475.1:c.1023G>C, XR_002959270.1:n.1086G>C, XR_002959272.1:n.1645G>C, XR_002959273.1:n.1569G>C, NM_001393655.1:c.831G>C, XM_047443973.1:c.1038G>C, XM_024452810.1:c.*212G>C, XR_002959275.1:n.1106G>C, XR_002959274.1:n.1106G>C, XR_002959276.1:n.1202G>C, XM_024452809.1:c.1058G>C, XP_024308577.1:p.Ter353Ser

                                16.

                                rs1477817015 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:112725457 (GRCh38)
                                  2:113483034 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:112725456:G:A
                                  Gene:
                                  NT5DC4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000002.12:g.112725457G>A, NC_000002.11:g.113483034G>A, XM_011512262.3:c.1250G>A, XM_011512262.2:c.1250G>A, XM_011512262.1:c.1250G>A, XM_011512265.3:c.629G>A, XM_011512265.2:c.629G>A, XM_011512265.1:c.629G>A, XR_002959267.2:n.1313G>A, XR_002959267.1:n.1313G>A, XR_001739644.2:n.1295G>A, XR_001739644.1:n.1295G>A, XR_002959269.2:n.1313G>A, XR_002959269.1:n.1313G>A, XM_024452806.2:c.1265G>A, XM_024452806.1:c.1265G>A, XM_024452802.2:c.1265G>A, XM_024452802.1:c.1265G>A, XR_002959268.2:n.1313G>A, XR_002959268.1:n.1313G>A, XM_024452799.2:c.1265G>A, XM_024452799.1:c.1265G>A, XM_024452800.2:c.1247G>A, XM_024452800.1:c.1247G>A, XM_017005477.2:c.986G>A, XM_017005477.1:c.986G>A, XM_017005474.2:c.1232G>A, XM_017005474.1:c.1232G>A, XM_024452803.2:c.1139G>A, XM_024452803.1:c.1139G>A, XM_024452804.2:c.1265G>A, XM_024452804.1:c.1265G>A, NM_001350494.2:c.962G>A, NM_001350494.1:c.962G>A, XM_017005476.2:c.1058G>A, XM_017005476.1:c.1058G>A, XM_024452805.2:c.1265G>A, XM_024452805.1:c.1265G>A, XM_017005478.2:c.929G>A, XM_017005478.1:c.929G>A, XM_017005475.1:c.1232G>A, XR_002959270.1:n.1313G>A, NM_001393655.1:c.1058G>A, XM_047443973.1:c.1180G>A, XR_002959275.1:n.1248G>A, XP_011510564.1:p.Gly417Glu, XP_011510567.1:p.Gly210Glu, XP_024308574.1:p.Gly422Glu, XP_024308570.1:p.Gly422Glu, XP_024308567.1:p.Gly422Glu, XP_024308568.1:p.Gly416Glu, XP_016860966.1:p.Gly329Glu, XP_016860963.1:p.Gly411Glu, XP_024308571.1:p.Gly380Glu, XP_024308572.1:p.Gly422Glu, NP_001337423.1:p.Gly321Glu, XP_016860965.1:p.Gly353Glu, XP_024308573.1:p.Gly422Glu, XP_016860967.1:p.Gly310Glu, XP_016860964.1:p.Gly411Glu, NP_001380584.1:p.Gly353Glu, XP_047299929.1:p.Gly394Arg

                                  17.

                                  rs1475770095 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:112722026 (GRCh38)
                                    2:113479603 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:112722025:G:A
                                    Gene:
                                    NT5DC4 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
                                    HGVS:
                                    NC_000002.12:g.112722026G>A, NC_000002.11:g.113479603G>A, XM_011512262.3:c.396G>A, XM_011512262.2:c.396G>A, XM_011512262.1:c.396G>A, XM_011512265.3:c.-134G>A, XM_011512265.2:c.-134G>A, XM_011512265.1:c.-134G>A, XR_002959267.2:n.444G>A, XR_002959267.1:n.444G>A, XR_001739644.2:n.444G>A, XR_001739644.1:n.444G>A, XR_002959269.2:n.444G>A, XR_002959269.1:n.444G>A, XM_024452806.2:c.396G>A, XM_024452806.1:c.396G>A, XM_024452802.2:c.396G>A, XM_024452802.1:c.396G>A, XR_002959268.2:n.444G>A, XR_002959268.1:n.444G>A, XM_024452799.2:c.396G>A, XM_024452799.1:c.396G>A, XM_024452800.2:c.396G>A, XM_024452800.1:c.396G>A, XM_017005477.2:c.117G>A, XM_017005477.1:c.117G>A, XM_017005474.2:c.396G>A, XM_017005474.1:c.396G>A, XM_024452803.2:c.396G>A, XM_024452803.1:c.396G>A, XM_024452804.2:c.396G>A, XM_024452804.1:c.396G>A, NM_001350494.2:c.126G>A, NM_001350494.1:c.126G>A, XM_024452807.2:c.396G>A, XM_024452807.1:c.396G>A, XM_017005476.2:c.189G>A, XM_017005476.1:c.189G>A, XM_024452805.2:c.396G>A, XM_024452805.1:c.396G>A, XM_017005478.2:c.60G>A, XM_017005478.1:c.60G>A, XM_024452808.2:c.396G>A, XM_024452808.1:c.396G>A, XM_017005475.1:c.396G>A, XR_002959270.1:n.444G>A, XR_002959272.1:n.444G>A, XR_002959273.1:n.444G>A, NM_001393655.1:c.189G>A, XM_047443973.1:c.396G>A, XM_024452810.1:c.396G>A, XR_002959275.1:n.444G>A, XR_002959274.1:n.444G>A, XR_002959276.1:n.444G>A, XM_024452809.1:c.396G>A, XM_047443974.1:c.396G>A

                                    18.

                                    rs1473860812 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:112722102 (GRCh38)
                                      2:113479679 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:112722101:A:G
                                      Gene:
                                      NT5DC4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000034/5 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.112722102A>G, NC_000002.11:g.113479679A>G, XM_011512262.3:c.472A>G, XM_011512262.2:c.472A>G, XM_011512262.1:c.472A>G, XM_011512265.3:c.-58A>G, XM_011512265.2:c.-58A>G, XM_011512265.1:c.-58A>G, XR_002959267.2:n.520A>G, XR_002959267.1:n.520A>G, XR_001739644.2:n.520A>G, XR_001739644.1:n.520A>G, XR_002959269.2:n.520A>G, XR_002959269.1:n.520A>G, XM_024452806.2:c.472A>G, XM_024452806.1:c.472A>G, XM_024452802.2:c.472A>G, XM_024452802.1:c.472A>G, XR_002959268.2:n.520A>G, XR_002959268.1:n.520A>G, XM_024452799.2:c.472A>G, XM_024452799.1:c.472A>G, XM_024452800.2:c.472A>G, XM_024452800.1:c.472A>G, XM_017005477.2:c.193A>G, XM_017005477.1:c.193A>G, XM_017005474.2:c.472A>G, XM_017005474.1:c.472A>G, XM_024452803.2:c.472A>G, XM_024452803.1:c.472A>G, XM_024452804.2:c.472A>G, XM_024452804.1:c.472A>G, NM_001350494.2:c.202A>G, NM_001350494.1:c.202A>G, XM_024452807.2:c.472A>G, XM_024452807.1:c.472A>G, XM_017005476.2:c.265A>G, XM_017005476.1:c.265A>G, XM_024452805.2:c.472A>G, XM_024452805.1:c.472A>G, XM_017005478.2:c.136A>G, XM_017005478.1:c.136A>G, XM_024452808.2:c.472A>G, XM_024452808.1:c.472A>G, XM_017005475.1:c.472A>G, XR_002959270.1:n.520A>G, XR_002959272.1:n.520A>G, XR_002959273.1:n.520A>G, NM_001393655.1:c.265A>G, XM_047443973.1:c.472A>G, XM_024452810.1:c.472A>G, XR_002959275.1:n.520A>G, XR_002959274.1:n.520A>G, XR_002959276.1:n.520A>G, XM_024452809.1:c.472A>G, XM_047443974.1:c.472A>G, XP_011510564.1:p.Arg158Gly, XP_024308574.1:p.Arg158Gly, XP_024308570.1:p.Arg158Gly, XP_024308567.1:p.Arg158Gly, XP_024308568.1:p.Arg158Gly, XP_016860966.1:p.Arg65Gly, XP_016860963.1:p.Arg158Gly, XP_024308571.1:p.Arg158Gly, XP_024308572.1:p.Arg158Gly, NP_001337423.1:p.Arg68Gly, XP_024308575.1:p.Arg158Gly, XP_016860965.1:p.Arg89Gly, XP_024308573.1:p.Arg158Gly, XP_016860967.1:p.Arg46Gly, XP_024308576.1:p.Arg158Gly, XP_016860964.1:p.Arg158Gly, NP_001380584.1:p.Arg89Gly, XP_047299929.1:p.Arg158Gly, XP_024308578.1:p.Arg158Gly, XP_024308577.1:p.Arg158Gly, XP_047299930.1:p.Arg158Gly

                                      19.

                                      rs1473661484 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        2:112723107 (GRCh38)
                                        2:113480684 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:112723106:A:C,NC_000002.12:112723106:A:G
                                        Gene:
                                        NT5DC4 (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)
                                        C=0.001638/3 (Korea1K)
                                        HGVS:
                                        NC_000002.12:g.112723107A>C, NC_000002.12:g.112723107A>G, NC_000002.11:g.113480684A>C, NC_000002.11:g.113480684A>G, XM_011512262.3:c.746A>C, XM_011512262.3:c.746A>G, XM_011512262.2:c.746A>C, XM_011512262.2:c.746A>G, XM_011512262.1:c.746A>C, XM_011512262.1:c.746A>G, XM_011512265.3:c.125A>C, XM_011512265.3:c.125A>G, XM_011512265.2:c.125A>C, XM_011512265.2:c.125A>G, XM_011512265.1:c.125A>C, XM_011512265.1:c.125A>G, XR_002959267.2:n.809A>C, XR_002959267.2:n.809A>G, XR_002959267.1:n.809A>C, XR_002959267.1:n.809A>G, XR_001739644.2:n.809A>C, XR_001739644.2:n.809A>G, XR_001739644.1:n.809A>C, XR_001739644.1:n.809A>G, XR_002959269.2:n.809A>C, XR_002959269.2:n.809A>G, XR_002959269.1:n.809A>C, XR_002959269.1:n.809A>G, XM_024452806.2:c.761A>C, XM_024452806.2:c.761A>G, XM_024452806.1:c.761A>C, XM_024452806.1:c.761A>G, XM_024452802.2:c.761A>C, XM_024452802.2:c.761A>G, XM_024452802.1:c.761A>C, XM_024452802.1:c.761A>G, XR_002959268.2:n.809A>C, XR_002959268.2:n.809A>G, XR_002959268.1:n.809A>C, XR_002959268.1:n.809A>G, XM_024452799.2:c.761A>C, XM_024452799.2:c.761A>G, XM_024452799.1:c.761A>C, XM_024452799.1:c.761A>G, XM_024452800.2:c.761A>C, XM_024452800.2:c.761A>G, XM_024452800.1:c.761A>C, XM_024452800.1:c.761A>G, XM_017005477.2:c.482A>C, XM_017005477.2:c.482A>G, XM_017005477.1:c.482A>C, XM_017005477.1:c.482A>G, XM_017005474.2:c.746A>C, XM_017005474.2:c.746A>G, XM_017005474.1:c.746A>C, XM_017005474.1:c.746A>G, XM_024452803.2:c.761A>C, XM_024452803.2:c.761A>G, XM_024452803.1:c.761A>C, XM_024452803.1:c.761A>G, XM_024452804.2:c.761A>C, XM_024452804.2:c.761A>G, XM_024452804.1:c.761A>C, XM_024452804.1:c.761A>G, NM_001350494.2:c.476A>C, NM_001350494.2:c.476A>G, NM_001350494.1:c.476A>C, NM_001350494.1:c.476A>G, XM_024452807.2:c.761A>C, XM_024452807.2:c.761A>G, XM_024452807.1:c.761A>C, XM_024452807.1:c.761A>G, XM_017005476.2:c.554A>C, XM_017005476.2:c.554A>G, XM_017005476.1:c.554A>C, XM_017005476.1:c.554A>G, XM_024452805.2:c.761A>C, XM_024452805.2:c.761A>G, XM_024452805.1:c.761A>C, XM_024452805.1:c.761A>G, XM_017005478.2:c.425A>C, XM_017005478.2:c.425A>G, XM_017005478.1:c.425A>C, XM_017005478.1:c.425A>G, XM_024452808.2:c.761A>C, XM_024452808.2:c.761A>G, XM_024452808.1:c.761A>C, XM_024452808.1:c.761A>G, XM_017005475.1:c.746A>C, XM_017005475.1:c.746A>G, XR_002959270.1:n.809A>C, XR_002959270.1:n.809A>G, XR_002959272.1:n.809A>C, XR_002959272.1:n.809A>G, XR_002959273.1:n.809A>C, XR_002959273.1:n.809A>G, NM_001393655.1:c.554A>C, NM_001393655.1:c.554A>G, XM_047443973.1:c.761A>C, XM_047443973.1:c.761A>G, XM_024452810.1:c.761A>C, XM_024452810.1:c.761A>G, XR_002959275.1:n.809A>C, XR_002959275.1:n.809A>G, XR_002959274.1:n.809A>C, XR_002959274.1:n.809A>G, XR_002959276.1:n.809A>C, XR_002959276.1:n.809A>G, XM_024452809.1:c.761A>C, XM_024452809.1:c.761A>G, XM_047443974.1:c.761A>C, XM_047443974.1:c.761A>G, XP_011510564.1:p.Asn249Thr, XP_011510564.1:p.Asn249Ser, XP_011510567.1:p.Asn42Thr, XP_011510567.1:p.Asn42Ser, XP_024308574.1:p.Asn254Thr, XP_024308574.1:p.Asn254Ser, XP_024308570.1:p.Asn254Thr, XP_024308570.1:p.Asn254Ser, XP_024308567.1:p.Asn254Thr, XP_024308567.1:p.Asn254Ser, XP_024308568.1:p.Asn254Thr, XP_024308568.1:p.Asn254Ser, XP_016860966.1:p.Asn161Thr, XP_016860966.1:p.Asn161Ser, XP_016860963.1:p.Asn249Thr, XP_016860963.1:p.Asn249Ser, XP_024308571.1:p.Asn254Thr, XP_024308571.1:p.Asn254Ser, XP_024308572.1:p.Asn254Thr, XP_024308572.1:p.Asn254Ser, NP_001337423.1:p.Asn159Thr, NP_001337423.1:p.Asn159Ser, XP_024308575.1:p.Asn254Thr, XP_024308575.1:p.Asn254Ser, XP_016860965.1:p.Asn185Thr, XP_016860965.1:p.Asn185Ser, XP_024308573.1:p.Asn254Thr, XP_024308573.1:p.Asn254Ser, XP_016860967.1:p.Asn142Thr, XP_016860967.1:p.Asn142Ser, XP_024308576.1:p.Asn254Thr, XP_024308576.1:p.Asn254Ser, XP_016860964.1:p.Asn249Thr, XP_016860964.1:p.Asn249Ser, NP_001380584.1:p.Asn185Thr, NP_001380584.1:p.Asn185Ser, XP_047299929.1:p.Asn254Thr, XP_047299929.1:p.Asn254Ser, XP_024308578.1:p.Asn254Thr, XP_024308578.1:p.Asn254Ser, XP_024308577.1:p.Asn254Thr, XP_024308577.1:p.Asn254Ser, XP_047299930.1:p.Asn254Thr, XP_047299930.1:p.Asn254Ser

                                        20.

                                        rs1473271745 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          2:112729651 (GRCh38)
                                          2:113487228 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:112729650:C:A
                                          Gene:
                                          NT5DC4 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.112729651C>A, NC_000002.11:g.113487228C>A, XM_011512262.3:c.1483C>A, XM_011512262.2:c.1483C>A, XM_011512262.1:c.1483C>A, XM_011512265.3:c.862C>A, XM_011512265.2:c.862C>A, XM_011512265.1:c.862C>A, XR_002959267.2:n.1724C>A, XR_002959267.1:n.1724C>A, XR_001739644.2:n.1706C>A, XR_001739644.1:n.1706C>A, XR_002959269.2:n.1724C>A, XR_002959269.1:n.1724C>A, XM_024452806.2:c.1498C>A, XM_024452806.1:c.1498C>A, XM_024452802.2:c.1498C>A, XM_024452802.1:c.1498C>A, XR_002959268.2:n.1724C>A, XR_002959268.1:n.1724C>A, XM_024452799.2:c.1498C>A, XM_024452799.1:c.1498C>A, XM_024452800.2:c.1480C>A, XM_024452800.1:c.1480C>A, XM_017005477.2:c.1219C>A, XM_017005477.1:c.1219C>A, XM_017005474.2:c.1465C>A, XM_017005474.1:c.1465C>A, XM_024452803.2:c.1372C>A, XM_024452803.1:c.1372C>A, XM_024452804.2:c.1498C>A, XM_024452804.1:c.1498C>A, NM_001350494.2:c.1195C>A, NM_001350494.1:c.1195C>A, XM_024452807.2:c.1327C>A, XM_024452807.1:c.1327C>A, XM_017005476.2:c.1291C>A, XM_017005476.1:c.1291C>A, XM_024452805.2:c.1498C>A, XM_024452805.1:c.1498C>A, XM_017005478.2:c.1162C>A, XM_017005478.1:c.1162C>A, XM_024452808.2:c.1201C>A, XM_024452808.1:c.1201C>A, XM_017005475.1:c.1465C>A, XR_002959270.1:n.1724C>A, NM_001393655.1:c.1291C>A, XP_011510564.1:p.Gln495Lys, XP_011510567.1:p.Gln288Lys, XP_024308574.1:p.Gln500Lys, XP_024308570.1:p.Gln500Lys, XP_024308567.1:p.Gln500Lys, XP_024308568.1:p.Gln494Lys, XP_016860966.1:p.Gln407Lys, XP_016860963.1:p.Gln489Lys, XP_024308571.1:p.Gln458Lys, XP_024308572.1:p.Gln500Lys, NP_001337423.1:p.Gln399Lys, XP_024308575.1:p.Gln443Lys, XP_016860965.1:p.Gln431Lys, XP_024308573.1:p.Gln500Lys, XP_016860967.1:p.Gln388Lys, XP_024308576.1:p.Gln401Lys, XP_016860964.1:p.Gln489Lys, NP_001380584.1:p.Gln431Lys

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