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Items: 1 to 20 of 883

1.

rs1490959951 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    6:109662650 (GRCh38)
    6:109983853 (GRCh37)
    Canonical SPDI:
    NC_000006.12:109662649:A:C,NC_000006.12:109662649:A:G
    Gene:
    AK9 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000111/1 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000006.12:g.109662650A>C, NC_000006.12:g.109662650A>G, NC_000006.11:g.109983853A>C, NC_000006.11:g.109983853A>G, NM_145025.5:c.345T>G, NM_145025.5:c.345T>C, NM_145025.4:c.345T>G, NM_145025.4:c.345T>C, XM_006715376.4:c.561T>G, XM_006715376.4:c.561T>C, XM_006715376.3:c.561T>G, XM_006715376.3:c.561T>C, XM_006715376.2:c.561T>G, XM_006715376.2:c.561T>C, XM_006715376.1:c.345T>G, XM_006715376.1:c.345T>C, XM_011535553.4:c.345T>G, XM_011535553.4:c.345T>C, XM_011535553.3:c.345T>G, XM_011535553.3:c.345T>C, XM_011535553.2:c.345T>G, XM_011535553.2:c.345T>C, XM_011535553.1:c.345T>G, XM_011535553.1:c.345T>C, XM_011535556.4:c.561T>G, XM_011535556.4:c.561T>C, XM_011535556.3:c.561T>G, XM_011535556.3:c.561T>C, XM_011535556.2:c.561T>G, XM_011535556.2:c.561T>C, XM_011535556.1:c.561T>G, XM_011535556.1:c.561T>C, XM_011535559.4:c.561T>G, XM_011535559.4:c.561T>C, XM_011535559.3:c.561T>G, XM_011535559.3:c.561T>C, XM_011535559.2:c.561T>G, XM_011535559.2:c.561T>C, XM_011535559.1:c.561T>G, XM_011535559.1:c.561T>C, XM_011535550.3:c.561T>G, XM_011535550.3:c.561T>C, XM_011535550.2:c.561T>G, XM_011535550.2:c.561T>C, XM_011535550.1:c.561T>G, XM_011535550.1:c.561T>C, XM_011535554.3:c.561T>G, XM_011535554.3:c.561T>C, XM_011535554.2:c.561T>G, XM_011535554.2:c.561T>C, XM_011535554.1:c.561T>G, XM_011535554.1:c.561T>C, XM_011535552.3:c.345T>G, XM_011535552.3:c.345T>C, XM_011535552.2:c.345T>G, XM_011535552.2:c.345T>C, XM_011535552.1:c.345T>G, XM_011535552.1:c.345T>C, NM_001145128.3:c.345T>G, NM_001145128.3:c.345T>C, NM_001145128.2:c.345T>G, NM_001145128.2:c.345T>C, XR_942337.3:n.1304T>G, XR_942337.3:n.1304T>C, XR_942337.2:n.1287T>G, XR_942337.2:n.1287T>C, XR_942337.1:n.1246T>G, XR_942337.1:n.1246T>C, XM_011535555.3:c.561T>G, XM_011535555.3:c.561T>C, XM_011535555.2:c.561T>G, XM_011535555.2:c.561T>C, XM_011535555.1:c.561T>G, XM_011535555.1:c.561T>C, XM_017010388.3:c.561T>G, XM_017010388.3:c.561T>C, XM_017010388.2:c.561T>G, XM_017010388.2:c.561T>C, XM_017010388.1:c.561T>G, XM_017010388.1:c.561T>C, XM_024446350.2:c.561T>G, XM_024446350.2:c.561T>C, XM_024446350.1:c.561T>G, XM_024446350.1:c.561T>C, XM_017010384.2:c.561T>G, XM_017010384.2:c.561T>C, XM_017010384.1:c.561T>G, XM_017010384.1:c.561T>C, XM_017010386.2:c.561T>G, XM_017010386.2:c.561T>C, XM_017010386.1:c.561T>G, XM_017010386.1:c.561T>C, NM_001329603.2:c.561T>G, NM_001329603.2:c.561T>C, NM_001329603.1:c.561T>G, NM_001329603.1:c.561T>C, NR_138057.2:n.1087T>G, NR_138057.2:n.1087T>C, NR_138057.1:n.1097T>G, NR_138057.1:n.1097T>C, NM_001329602.2:c.345T>G, NM_001329602.2:c.345T>C, NM_001329602.1:c.345T>G, NM_001329602.1:c.345T>C, XM_047418305.1:c.345T>G, XM_047418305.1:c.345T>C, XM_047418304.1:c.345T>G, XM_047418304.1:c.345T>C, XM_047418307.1:c.345T>G, XM_047418307.1:c.345T>C

    2.

    rs1489200218 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      C>- [Show Flanks]
      Chromosome:
      6:109659303 (GRCh38)
      6:109980506 (GRCh37)
      Canonical SPDI:
      NC_000006.12:109659302:CC:C
      Gene:
      AK9 (Varview)
      Functional Consequence:
      coding_sequence_variant,frameshift_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CC=0./0 (ALFA)
      -=0.000007/1 (GnomAD)
      -=0.000011/3 (TOPMED)
      HGVS:
      NC_000006.12:g.109659304del, NC_000006.11:g.109980507del, NM_145025.5:c.555del, NM_145025.4:c.555del, XM_006715376.4:c.771del, XM_006715376.3:c.771del, XM_006715376.2:c.771del, XM_006715376.1:c.555del, XM_011535553.4:c.555del, XM_011535553.3:c.555del, XM_011535553.2:c.555del, XM_011535553.1:c.555del, XM_011535556.4:c.771del, XM_011535556.3:c.771del, XM_011535556.2:c.771del, XM_011535556.1:c.771del, XM_011535559.4:c.771del, XM_011535559.3:c.771del, XM_011535559.2:c.771del, XM_011535559.1:c.771del, XM_011535550.3:c.771del, XM_011535550.2:c.771del, XM_011535550.1:c.771del, XM_011535554.3:c.771del, XM_011535554.2:c.771del, XM_011535554.1:c.771del, XM_011535552.3:c.555del, XM_011535552.2:c.555del, XM_011535552.1:c.555del, NM_001145128.3:c.555del, NM_001145128.2:c.555del, XR_942337.3:n.1514del, XR_942337.2:n.1497del, XR_942337.1:n.1456del, XM_011535555.3:c.771del, XM_011535555.2:c.771del, XM_011535555.1:c.771del, XM_017010388.3:c.771del, XM_017010388.2:c.771del, XM_017010388.1:c.771del, XM_024446350.2:c.771del, XM_024446350.1:c.771del, XM_017010384.2:c.771del, XM_017010384.1:c.771del, XM_017010386.2:c.771del, XM_017010386.1:c.771del, NM_001329603.2:c.771del, NM_001329603.1:c.771del, NR_138057.2:n.1297del, NR_138057.1:n.1307del, NM_001329602.2:c.555del, NM_001329602.1:c.555del, XM_047418305.1:c.555del, XM_047418304.1:c.555del, XM_047418307.1:c.555del, NP_659462.1:p.Lys187fs, XP_006715439.2:p.Lys259fs, XP_011533855.1:p.Lys187fs, XP_011533858.1:p.Lys259fs, XP_011533861.1:p.Lys259fs, XP_011533852.1:p.Lys259fs, XP_011533856.1:p.Lys259fs, XP_011533854.1:p.Lys187fs, NP_001138600.2:p.Lys187fs, XP_011533857.1:p.Lys259fs, XP_016865877.1:p.Lys259fs, XP_024302118.1:p.Lys259fs, XP_016865873.1:p.Lys259fs, XP_016865875.1:p.Lys259fs, NP_001316532.1:p.Lys259fs, NP_001316531.1:p.Lys187fs, XP_047274261.1:p.Lys187fs, XP_047274260.1:p.Lys187fs, XP_047274263.1:p.Lys187fs

      3.

      rs1487974761 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:109573564 (GRCh38)
        6:109894767 (GRCh37)
        Canonical SPDI:
        NC_000006.12:109573563:T:C
        Gene:
        AK9 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000014/2 (GnomAD)
        C=0.000015/4 (TOPMED)
        C=0.000026/4 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.109573564T>C, NC_000006.11:g.109894767T>C, XM_006715376.4:c.2438A>G, XM_006715376.3:c.2438A>G, XM_006715376.2:c.2438A>G, XM_006715376.1:c.2222A>G, XM_011535553.4:c.2222A>G, XM_011535553.3:c.2222A>G, XM_011535553.2:c.2222A>G, XM_011535553.1:c.2222A>G, XM_011535556.4:c.2438A>G, XM_011535556.3:c.2438A>G, XM_011535556.2:c.2438A>G, XM_011535556.1:c.2438A>G, XM_011535559.4:c.2438A>G, XM_011535559.3:c.2438A>G, XM_011535559.2:c.2438A>G, XM_011535559.1:c.2438A>G, XM_011535550.3:c.2438A>G, XM_011535550.2:c.2438A>G, XM_011535550.1:c.2438A>G, XM_011535554.3:c.2117A>G, XM_011535554.2:c.2117A>G, XM_011535554.1:c.2117A>G, XM_011535552.3:c.2222A>G, XM_011535552.2:c.2222A>G, XM_011535552.1:c.2222A>G, NM_001145128.3:c.2222A>G, NM_001145128.2:c.2222A>G, XR_942337.3:n.3181A>G, XR_942337.2:n.3164A>G, XR_942337.1:n.3123A>G, XM_011535555.3:c.2438A>G, XM_011535555.2:c.2438A>G, XM_011535555.1:c.2438A>G, XM_017010388.3:c.2438A>G, XM_017010388.2:c.2438A>G, XM_017010388.1:c.2438A>G, XM_017010385.3:c.1577A>G, XM_017010385.2:c.1577A>G, XM_017010385.1:c.1577A>G, XM_024446350.2:c.2438A>G, XM_024446350.1:c.2438A>G, XM_017010384.2:c.2438A>G, XM_017010384.1:c.2438A>G, XM_017010386.2:c.2438A>G, XM_017010386.1:c.2438A>G, XM_047418305.1:c.1901A>G, XM_047418304.1:c.1901A>G, XM_047418306.1:c.1076A>G, XM_047418307.1:c.1901A>G, XM_011535558.1:c.50A>G, XP_006715439.2:p.Glu813Gly, XP_011533855.1:p.Glu741Gly, XP_011533858.1:p.Glu813Gly, XP_011533861.1:p.Glu813Gly, XP_011533852.1:p.Glu813Gly, XP_011533856.1:p.Glu706Gly, XP_011533854.1:p.Glu741Gly, NP_001138600.2:p.Glu741Gly, XP_011533857.1:p.Glu813Gly, XP_016865877.1:p.Glu813Gly, XP_016865874.1:p.Glu526Gly, XP_024302118.1:p.Glu813Gly, XP_016865873.1:p.Glu813Gly, XP_016865875.1:p.Glu813Gly, XP_047274261.1:p.Glu634Gly, XP_047274260.1:p.Glu634Gly, XP_047274262.1:p.Glu359Gly, XP_047274263.1:p.Glu634Gly, XP_011533860.1:p.Glu17Gly

        4.

        rs1487662868 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>A [Show Flanks]
          Chromosome:
          6:109662575 (GRCh38)
          6:109983778 (GRCh37)
          Canonical SPDI:
          NC_000006.12:109662574:T:A
          Gene:
          AK9 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.109662575T>A, NC_000006.11:g.109983778T>A, NM_145025.5:c.420A>T, NM_145025.4:c.420A>T, XM_006715376.4:c.636A>T, XM_006715376.3:c.636A>T, XM_006715376.2:c.636A>T, XM_006715376.1:c.420A>T, XM_011535553.4:c.420A>T, XM_011535553.3:c.420A>T, XM_011535553.2:c.420A>T, XM_011535553.1:c.420A>T, XM_011535556.4:c.636A>T, XM_011535556.3:c.636A>T, XM_011535556.2:c.636A>T, XM_011535556.1:c.636A>T, XM_011535559.4:c.636A>T, XM_011535559.3:c.636A>T, XM_011535559.2:c.636A>T, XM_011535559.1:c.636A>T, XM_011535550.3:c.636A>T, XM_011535550.2:c.636A>T, XM_011535550.1:c.636A>T, XM_011535554.3:c.636A>T, XM_011535554.2:c.636A>T, XM_011535554.1:c.636A>T, XM_011535552.3:c.420A>T, XM_011535552.2:c.420A>T, XM_011535552.1:c.420A>T, NM_001145128.3:c.420A>T, NM_001145128.2:c.420A>T, XR_942337.3:n.1379A>T, XR_942337.2:n.1362A>T, XR_942337.1:n.1321A>T, XM_011535555.3:c.636A>T, XM_011535555.2:c.636A>T, XM_011535555.1:c.636A>T, XM_017010388.3:c.636A>T, XM_017010388.2:c.636A>T, XM_017010388.1:c.636A>T, XM_024446350.2:c.636A>T, XM_024446350.1:c.636A>T, XM_017010384.2:c.636A>T, XM_017010384.1:c.636A>T, XM_017010386.2:c.636A>T, XM_017010386.1:c.636A>T, NM_001329603.2:c.636A>T, NM_001329603.1:c.636A>T, NR_138057.2:n.1162A>T, NR_138057.1:n.1172A>T, NM_001329602.2:c.420A>T, NM_001329602.1:c.420A>T, XM_047418305.1:c.420A>T, XM_047418304.1:c.420A>T, XM_047418307.1:c.420A>T, NP_659462.1:p.Lys140Asn, XP_006715439.2:p.Lys212Asn, XP_011533855.1:p.Lys140Asn, XP_011533858.1:p.Lys212Asn, XP_011533861.1:p.Lys212Asn, XP_011533852.1:p.Lys212Asn, XP_011533856.1:p.Lys212Asn, XP_011533854.1:p.Lys140Asn, NP_001138600.2:p.Lys140Asn, XP_011533857.1:p.Lys212Asn, XP_016865877.1:p.Lys212Asn, XP_024302118.1:p.Lys212Asn, XP_016865873.1:p.Lys212Asn, XP_016865875.1:p.Lys212Asn, NP_001316532.1:p.Lys212Asn, NP_001316531.1:p.Lys140Asn, XP_047274261.1:p.Lys140Asn, XP_047274260.1:p.Lys140Asn, XP_047274263.1:p.Lys140Asn

          5.

          rs1487612496 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:109573471 (GRCh38)
            6:109894674 (GRCh37)
            Canonical SPDI:
            NC_000006.12:109573470:G:A
            Gene:
            AK9 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            A=0.000007/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.109573471G>A, NC_000006.11:g.109894674G>A, XM_006715376.4:c.2531C>T, XM_006715376.3:c.2531C>T, XM_006715376.2:c.2531C>T, XM_006715376.1:c.2315C>T, XM_011535553.4:c.2315C>T, XM_011535553.3:c.2315C>T, XM_011535553.2:c.2315C>T, XM_011535553.1:c.2315C>T, XM_011535556.4:c.2531C>T, XM_011535556.3:c.2531C>T, XM_011535556.2:c.2531C>T, XM_011535556.1:c.2531C>T, XM_011535559.4:c.2531C>T, XM_011535559.3:c.2531C>T, XM_011535559.2:c.2531C>T, XM_011535559.1:c.2531C>T, XM_011535550.3:c.2531C>T, XM_011535550.2:c.2531C>T, XM_011535550.1:c.2531C>T, XM_011535554.3:c.2210C>T, XM_011535554.2:c.2210C>T, XM_011535554.1:c.2210C>T, XM_011535552.3:c.2315C>T, XM_011535552.2:c.2315C>T, XM_011535552.1:c.2315C>T, NM_001145128.3:c.2315C>T, NM_001145128.2:c.2315C>T, XR_942337.3:n.3274C>T, XR_942337.2:n.3257C>T, XR_942337.1:n.3216C>T, XM_011535555.3:c.2531C>T, XM_011535555.2:c.2531C>T, XM_011535555.1:c.2531C>T, XM_017010388.3:c.2531C>T, XM_017010388.2:c.2531C>T, XM_017010388.1:c.2531C>T, XM_017010385.3:c.1670C>T, XM_017010385.2:c.1670C>T, XM_017010385.1:c.1670C>T, XM_024446350.2:c.2531C>T, XM_024446350.1:c.2531C>T, XM_017010384.2:c.2531C>T, XM_017010384.1:c.2531C>T, XM_017010386.2:c.2531C>T, XM_017010386.1:c.2531C>T, XM_047418305.1:c.1994C>T, XM_047418304.1:c.1994C>T, XM_047418306.1:c.1169C>T, XM_047418307.1:c.1994C>T, XM_011535558.1:c.143C>T, XP_006715439.2:p.Ser844Phe, XP_011533855.1:p.Ser772Phe, XP_011533858.1:p.Ser844Phe, XP_011533861.1:p.Ser844Phe, XP_011533852.1:p.Ser844Phe, XP_011533856.1:p.Ser737Phe, XP_011533854.1:p.Ser772Phe, NP_001138600.2:p.Ser772Phe, XP_011533857.1:p.Ser844Phe, XP_016865877.1:p.Ser844Phe, XP_016865874.1:p.Ser557Phe, XP_024302118.1:p.Ser844Phe, XP_016865873.1:p.Ser844Phe, XP_016865875.1:p.Ser844Phe, XP_047274261.1:p.Ser665Phe, XP_047274260.1:p.Ser665Phe, XP_047274262.1:p.Ser390Phe, XP_047274263.1:p.Ser665Phe, XP_011533860.1:p.Ser48Phe

            6.

            rs1485855150 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              6:109686020 (GRCh38)
              6:110007223 (GRCh37)
              Canonical SPDI:
              NC_000006.12:109686019:C:T
              Gene:
              AK9 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000015/4 (TOPMED)
              T=0.000036/5 (GnomAD)
              HGVS:
              NC_000006.12:g.109686020C>T, NC_000006.11:g.110007223C>T, XM_006715376.4:c.29G>A, XM_006715376.3:c.29G>A, XM_006715376.2:c.29G>A, XM_011535556.4:c.29G>A, XM_011535556.3:c.29G>A, XM_011535556.2:c.29G>A, XM_011535556.1:c.29G>A, XM_011535559.4:c.29G>A, XM_011535559.3:c.29G>A, XM_011535559.2:c.29G>A, XM_011535559.1:c.29G>A, XM_011535550.3:c.29G>A, XM_011535550.2:c.29G>A, XM_011535550.1:c.29G>A, XM_011535554.3:c.29G>A, XM_011535554.2:c.29G>A, XM_011535554.1:c.29G>A, XR_942337.3:n.772G>A, XR_942337.2:n.755G>A, XR_942337.1:n.714G>A, XM_011535555.3:c.29G>A, XM_011535555.2:c.29G>A, XM_011535555.1:c.29G>A, XM_017010388.3:c.29G>A, XM_017010388.2:c.29G>A, XM_017010388.1:c.29G>A, XM_024446350.2:c.29G>A, XM_024446350.1:c.29G>A, XM_017010384.2:c.29G>A, XM_017010384.1:c.29G>A, XM_017010386.2:c.29G>A, XM_017010386.1:c.29G>A, NM_001329603.2:c.29G>A, NM_001329603.1:c.29G>A, XP_006715439.2:p.Arg10His, XP_011533858.1:p.Arg10His, XP_011533861.1:p.Arg10His, XP_011533852.1:p.Arg10His, XP_011533856.1:p.Arg10His, XP_011533857.1:p.Arg10His, XP_016865877.1:p.Arg10His, XP_024302118.1:p.Arg10His, XP_016865873.1:p.Arg10His, XP_016865875.1:p.Arg10His, NP_001316532.1:p.Arg10His

              7.

              rs1485643593 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                6:109659390 (GRCh38)
                6:109980593 (GRCh37)
                Canonical SPDI:
                NC_000006.12:109659389:C:G
                Gene:
                AK9 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.109659390C>G, NC_000006.11:g.109980593C>G, NM_145025.5:c.468G>C, NM_145025.4:c.468G>C, XM_006715376.4:c.684G>C, XM_006715376.3:c.684G>C, XM_006715376.2:c.684G>C, XM_006715376.1:c.468G>C, XM_011535553.4:c.468G>C, XM_011535553.3:c.468G>C, XM_011535553.2:c.468G>C, XM_011535553.1:c.468G>C, XM_011535556.4:c.684G>C, XM_011535556.3:c.684G>C, XM_011535556.2:c.684G>C, XM_011535556.1:c.684G>C, XM_011535559.4:c.684G>C, XM_011535559.3:c.684G>C, XM_011535559.2:c.684G>C, XM_011535559.1:c.684G>C, XM_011535550.3:c.684G>C, XM_011535550.2:c.684G>C, XM_011535550.1:c.684G>C, XM_011535554.3:c.684G>C, XM_011535554.2:c.684G>C, XM_011535554.1:c.684G>C, XM_011535552.3:c.468G>C, XM_011535552.2:c.468G>C, XM_011535552.1:c.468G>C, NM_001145128.3:c.468G>C, NM_001145128.2:c.468G>C, XR_942337.3:n.1427G>C, XR_942337.2:n.1410G>C, XR_942337.1:n.1369G>C, XM_011535555.3:c.684G>C, XM_011535555.2:c.684G>C, XM_011535555.1:c.684G>C, XM_017010388.3:c.684G>C, XM_017010388.2:c.684G>C, XM_017010388.1:c.684G>C, XM_024446350.2:c.684G>C, XM_024446350.1:c.684G>C, XM_017010384.2:c.684G>C, XM_017010384.1:c.684G>C, XM_017010386.2:c.684G>C, XM_017010386.1:c.684G>C, NM_001329603.2:c.684G>C, NM_001329603.1:c.684G>C, NR_138057.2:n.1210G>C, NR_138057.1:n.1220G>C, NM_001329602.2:c.468G>C, NM_001329602.1:c.468G>C, XM_047418305.1:c.468G>C, XM_047418304.1:c.468G>C, XM_047418307.1:c.468G>C, NP_659462.1:p.Gln156His, XP_006715439.2:p.Gln228His, XP_011533855.1:p.Gln156His, XP_011533858.1:p.Gln228His, XP_011533861.1:p.Gln228His, XP_011533852.1:p.Gln228His, XP_011533856.1:p.Gln228His, XP_011533854.1:p.Gln156His, NP_001138600.2:p.Gln156His, XP_011533857.1:p.Gln228His, XP_016865877.1:p.Gln228His, XP_024302118.1:p.Gln228His, XP_016865873.1:p.Gln228His, XP_016865875.1:p.Gln228His, NP_001316532.1:p.Gln228His, NP_001316531.1:p.Gln156His, XP_047274261.1:p.Gln156His, XP_047274260.1:p.Gln156His, XP_047274263.1:p.Gln156His

                8.

                rs1484193357 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->C [Show Flanks]
                  Chromosome:
                  6:109619173 (GRCh38)
                  6:109940377 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:109619173::C
                  Gene:
                  AK9 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                  HGVS:
                  NC_000006.12:g.109619173_109619174insC, NC_000006.11:g.109940376_109940377insC, XM_006715376.4:c.1533_1534insG, XM_006715376.3:c.1533_1534insG, XM_006715376.2:c.1533_1534insG, XM_006715376.1:c.1317_1318insG, XM_011535553.4:c.1317_1318insG, XM_011535553.3:c.1317_1318insG, XM_011535553.2:c.1317_1318insG, XM_011535553.1:c.1317_1318insG, XM_011535556.4:c.1533_1534insG, XM_011535556.3:c.1533_1534insG, XM_011535556.2:c.1533_1534insG, XM_011535556.1:c.1533_1534insG, XM_011535559.4:c.1533_1534insG, XM_011535559.3:c.1533_1534insG, XM_011535559.2:c.1533_1534insG, XM_011535559.1:c.1533_1534insG, XM_011535550.3:c.1533_1534insG, XM_011535550.2:c.1533_1534insG, XM_011535550.1:c.1533_1534insG, XM_011535554.3:c.1212_1213insG, XM_011535554.2:c.1212_1213insG, XM_011535554.1:c.1212_1213insG, XM_011535552.3:c.1317_1318insG, XM_011535552.2:c.1317_1318insG, XM_011535552.1:c.1317_1318insG, NM_001145128.3:c.1317_1318insG, NM_001145128.2:c.1317_1318insG, XR_942337.3:n.2276_2277insG, XR_942337.2:n.2259_2260insG, XR_942337.1:n.2218_2219insG, XM_011535555.3:c.1533_1534insG, XM_011535555.2:c.1533_1534insG, XM_011535555.1:c.1533_1534insG, XM_017010388.3:c.1533_1534insG, XM_017010388.2:c.1533_1534insG, XM_017010388.1:c.1533_1534insG, XM_017010385.3:c.672_673insG, XM_017010385.2:c.672_673insG, XM_017010385.1:c.672_673insG, XM_024446350.2:c.1533_1534insG, XM_024446350.1:c.1533_1534insG, XM_017010384.2:c.1533_1534insG, XM_017010384.1:c.1533_1534insG, XM_017010386.2:c.1533_1534insG, XM_017010386.1:c.1533_1534insG, XM_047418305.1:c.996_997insG, XM_047418304.1:c.996_997insG, XM_047418306.1:c.171_172insG, XM_047418307.1:c.996_997insG, XP_006715439.2:p.Asn512fs, XP_011533855.1:p.Asn440fs, XP_011533858.1:p.Asn512fs, XP_011533861.1:p.Asn512fs, XP_011533852.1:p.Asn512fs, XP_011533856.1:p.Asn405fs, XP_011533854.1:p.Asn440fs, NP_001138600.2:p.Asn440fs, XP_011533857.1:p.Asn512fs, XP_016865877.1:p.Asn512fs, XP_016865874.1:p.Asn225fs, XP_024302118.1:p.Asn512fs, XP_016865873.1:p.Asn512fs, XP_016865875.1:p.Asn512fs, XP_047274261.1:p.Asn333fs, XP_047274260.1:p.Asn333fs, XP_047274262.1:p.Asn58fs, XP_047274263.1:p.Asn333fs

                  9.

                  rs1484010421 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:109674218 (GRCh38)
                    6:109995421 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:109674217:C:T
                    Gene:
                    AK9 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,stop_gained,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.109674218C>T, NC_000006.11:g.109995421C>T, NM_145025.5:c.161G>A, NM_145025.4:c.161G>A, XM_006715376.4:c.377G>A, XM_006715376.3:c.377G>A, XM_006715376.2:c.377G>A, XM_006715376.1:c.161G>A, XM_011535553.4:c.161G>A, XM_011535553.3:c.161G>A, XM_011535553.2:c.161G>A, XM_011535553.1:c.161G>A, XM_011535556.4:c.377G>A, XM_011535556.3:c.377G>A, XM_011535556.2:c.377G>A, XM_011535556.1:c.377G>A, XM_011535559.4:c.377G>A, XM_011535559.3:c.377G>A, XM_011535559.2:c.377G>A, XM_011535559.1:c.377G>A, XM_011535550.3:c.377G>A, XM_011535550.2:c.377G>A, XM_011535550.1:c.377G>A, XM_011535554.3:c.377G>A, XM_011535554.2:c.377G>A, XM_011535554.1:c.377G>A, XM_011535552.3:c.161G>A, XM_011535552.2:c.161G>A, XM_011535552.1:c.161G>A, NM_001145128.3:c.161G>A, NM_001145128.2:c.161G>A, XR_942337.3:n.1120G>A, XR_942337.2:n.1103G>A, XR_942337.1:n.1062G>A, XM_011535555.3:c.377G>A, XM_011535555.2:c.377G>A, XM_011535555.1:c.377G>A, XM_017010388.3:c.377G>A, XM_017010388.2:c.377G>A, XM_017010388.1:c.377G>A, XM_024446350.2:c.377G>A, XM_024446350.1:c.377G>A, XM_017010384.2:c.377G>A, XM_017010384.1:c.377G>A, XM_017010386.2:c.377G>A, XM_017010386.1:c.377G>A, NM_001329603.2:c.377G>A, NM_001329603.1:c.377G>A, NR_138057.2:n.903G>A, NR_138057.1:n.913G>A, NM_001329602.2:c.161G>A, NM_001329602.1:c.161G>A, XM_047418305.1:c.161G>A, XM_047418304.1:c.161G>A, XM_047418307.1:c.161G>A, NP_659462.1:p.Trp54Ter, XP_006715439.2:p.Trp126Ter, XP_011533855.1:p.Trp54Ter, XP_011533858.1:p.Trp126Ter, XP_011533861.1:p.Trp126Ter, XP_011533852.1:p.Trp126Ter, XP_011533856.1:p.Trp126Ter, XP_011533854.1:p.Trp54Ter, NP_001138600.2:p.Trp54Ter, XP_011533857.1:p.Trp126Ter, XP_016865877.1:p.Trp126Ter, XP_024302118.1:p.Trp126Ter, XP_016865873.1:p.Trp126Ter, XP_016865875.1:p.Trp126Ter, NP_001316532.1:p.Trp126Ter, NP_001316531.1:p.Trp54Ter, XP_047274261.1:p.Trp54Ter, XP_047274260.1:p.Trp54Ter, XP_047274263.1:p.Trp54Ter

                    10.

                    rs1480902912 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:109659268 (GRCh38)
                      6:109980471 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:109659267:C:T
                      Gene:
                      AK9 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.109659268C>T, NC_000006.11:g.109980471C>T, NM_145025.5:c.590G>A, NM_145025.4:c.590G>A, XM_006715376.4:c.806G>A, XM_006715376.3:c.806G>A, XM_006715376.2:c.806G>A, XM_006715376.1:c.590G>A, XM_011535553.4:c.590G>A, XM_011535553.3:c.590G>A, XM_011535553.2:c.590G>A, XM_011535553.1:c.590G>A, XM_011535556.4:c.806G>A, XM_011535556.3:c.806G>A, XM_011535556.2:c.806G>A, XM_011535556.1:c.806G>A, XM_011535559.4:c.806G>A, XM_011535559.3:c.806G>A, XM_011535559.2:c.806G>A, XM_011535559.1:c.806G>A, XM_011535550.3:c.806G>A, XM_011535550.2:c.806G>A, XM_011535550.1:c.806G>A, XM_011535554.3:c.806G>A, XM_011535554.2:c.806G>A, XM_011535554.1:c.806G>A, XM_011535552.3:c.590G>A, XM_011535552.2:c.590G>A, XM_011535552.1:c.590G>A, NM_001145128.3:c.590G>A, NM_001145128.2:c.590G>A, XR_942337.3:n.1549G>A, XR_942337.2:n.1532G>A, XR_942337.1:n.1491G>A, XM_011535555.3:c.806G>A, XM_011535555.2:c.806G>A, XM_011535555.1:c.806G>A, XM_017010388.3:c.806G>A, XM_017010388.2:c.806G>A, XM_017010388.1:c.806G>A, XM_024446350.2:c.806G>A, XM_024446350.1:c.806G>A, XM_017010384.2:c.806G>A, XM_017010384.1:c.806G>A, XM_017010386.2:c.806G>A, XM_017010386.1:c.806G>A, NM_001329603.2:c.806G>A, NM_001329603.1:c.806G>A, NR_138057.2:n.1332G>A, NR_138057.1:n.1342G>A, NM_001329602.2:c.590G>A, NM_001329602.1:c.590G>A, XM_047418305.1:c.590G>A, XM_047418304.1:c.590G>A, XM_047418307.1:c.590G>A, NP_659462.1:p.Gly197Glu, XP_006715439.2:p.Gly269Glu, XP_011533855.1:p.Gly197Glu, XP_011533858.1:p.Gly269Glu, XP_011533861.1:p.Gly269Glu, XP_011533852.1:p.Gly269Glu, XP_011533856.1:p.Gly269Glu, XP_011533854.1:p.Gly197Glu, NP_001138600.2:p.Gly197Glu, XP_011533857.1:p.Gly269Glu, XP_016865877.1:p.Gly269Glu, XP_024302118.1:p.Gly269Glu, XP_016865873.1:p.Gly269Glu, XP_016865875.1:p.Gly269Glu, NP_001316532.1:p.Gly269Glu, NP_001316531.1:p.Gly197Glu, XP_047274261.1:p.Gly197Glu, XP_047274260.1:p.Gly197Glu, XP_047274263.1:p.Gly197Glu

                      11.

                      rs1480248703 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        6:109564819 (GRCh38)
                        6:109886022 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:109564818:C:T
                        Gene:
                        AK9 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000006.12:g.109564819C>T, NC_000006.11:g.109886022C>T, XM_006715376.4:c.2587G>A, XM_006715376.3:c.2587G>A, XM_006715376.2:c.2587G>A, XM_006715376.1:c.2371G>A, XM_011535553.4:c.2371G>A, XM_011535553.3:c.2371G>A, XM_011535553.2:c.2371G>A, XM_011535553.1:c.2371G>A, XM_011535556.4:c.2587G>A, XM_011535556.3:c.2587G>A, XM_011535556.2:c.2587G>A, XM_011535556.1:c.2587G>A, XM_011535559.4:c.2587G>A, XM_011535559.3:c.2587G>A, XM_011535559.2:c.2587G>A, XM_011535559.1:c.2587G>A, XM_011535550.3:c.2587G>A, XM_011535550.2:c.2587G>A, XM_011535550.1:c.2587G>A, XM_011535554.3:c.2266G>A, XM_011535554.2:c.2266G>A, XM_011535554.1:c.2266G>A, XM_011535552.3:c.2371G>A, XM_011535552.2:c.2371G>A, XM_011535552.1:c.2371G>A, NM_001145128.3:c.2371G>A, NM_001145128.2:c.2371G>A, XR_942337.3:n.3330G>A, XR_942337.2:n.3313G>A, XR_942337.1:n.3272G>A, XM_011535555.3:c.2587G>A, XM_011535555.2:c.2587G>A, XM_011535555.1:c.2587G>A, XM_017010388.3:c.2587G>A, XM_017010388.2:c.2587G>A, XM_017010388.1:c.2587G>A, XM_017010385.3:c.1726G>A, XM_017010385.2:c.1726G>A, XM_017010385.1:c.1726G>A, XM_024446350.2:c.2587G>A, XM_024446350.1:c.2587G>A, XM_017010384.2:c.2587G>A, XM_017010384.1:c.2587G>A, XM_017010386.2:c.2587G>A, XM_017010386.1:c.2587G>A, XM_047418305.1:c.2050G>A, XM_047418304.1:c.2050G>A, XM_047418306.1:c.1225G>A, XM_047418307.1:c.2050G>A, XM_011535558.1:c.199G>A, XP_006715439.2:p.Val863Met, XP_011533855.1:p.Val791Met, XP_011533858.1:p.Val863Met, XP_011533861.1:p.Val863Met, XP_011533852.1:p.Val863Met, XP_011533856.1:p.Val756Met, XP_011533854.1:p.Val791Met, NP_001138600.2:p.Val791Met, XP_011533857.1:p.Val863Met, XP_016865877.1:p.Val863Met, XP_016865874.1:p.Val576Met, XP_024302118.1:p.Val863Met, XP_016865873.1:p.Val863Met, XP_016865875.1:p.Val863Met, XP_047274261.1:p.Val684Met, XP_047274260.1:p.Val684Met, XP_047274262.1:p.Val409Met, XP_047274263.1:p.Val684Met, XP_011533860.1:p.Val67Met

                        12.

                        rs1479797029 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          6:109675738 (GRCh38)
                          6:109996941 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:109675737:G:A
                          Gene:
                          AK9 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          A=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000006.12:g.109675738G>A, NC_000006.11:g.109996941G>A, NM_145025.5:c.8C>T, NM_145025.4:c.8C>T, XM_006715376.4:c.224C>T, XM_006715376.3:c.224C>T, XM_006715376.2:c.224C>T, XM_006715376.1:c.8C>T, XM_011535553.4:c.8C>T, XM_011535553.3:c.8C>T, XM_011535553.2:c.8C>T, XM_011535553.1:c.8C>T, XM_011535556.4:c.224C>T, XM_011535556.3:c.224C>T, XM_011535556.2:c.224C>T, XM_011535556.1:c.224C>T, XM_011535559.4:c.224C>T, XM_011535559.3:c.224C>T, XM_011535559.2:c.224C>T, XM_011535559.1:c.224C>T, XM_011535550.3:c.224C>T, XM_011535550.2:c.224C>T, XM_011535550.1:c.224C>T, XM_011535554.3:c.224C>T, XM_011535554.2:c.224C>T, XM_011535554.1:c.224C>T, XM_011535552.3:c.8C>T, XM_011535552.2:c.8C>T, XM_011535552.1:c.8C>T, NM_001145128.3:c.8C>T, NM_001145128.2:c.8C>T, XR_942337.3:n.967C>T, XR_942337.2:n.950C>T, XR_942337.1:n.909C>T, XM_011535555.3:c.224C>T, XM_011535555.2:c.224C>T, XM_011535555.1:c.224C>T, XM_017010388.3:c.224C>T, XM_017010388.2:c.224C>T, XM_017010388.1:c.224C>T, XM_024446350.2:c.224C>T, XM_024446350.1:c.224C>T, XM_017010384.2:c.224C>T, XM_017010384.1:c.224C>T, XM_017010386.2:c.224C>T, XM_017010386.1:c.224C>T, NM_001329603.2:c.224C>T, NM_001329603.1:c.224C>T, NR_138057.2:n.750C>T, NR_138057.1:n.760C>T, NM_001329602.2:c.8C>T, NM_001329602.1:c.8C>T, XM_047418305.1:c.8C>T, XM_047418304.1:c.8C>T, XM_047418307.1:c.8C>T, NP_659462.1:p.Ser3Phe, XP_006715439.2:p.Ser75Phe, XP_011533855.1:p.Ser3Phe, XP_011533858.1:p.Ser75Phe, XP_011533861.1:p.Ser75Phe, XP_011533852.1:p.Ser75Phe, XP_011533856.1:p.Ser75Phe, XP_011533854.1:p.Ser3Phe, NP_001138600.2:p.Ser3Phe, XP_011533857.1:p.Ser75Phe, XP_016865877.1:p.Ser75Phe, XP_024302118.1:p.Ser75Phe, XP_016865873.1:p.Ser75Phe, XP_016865875.1:p.Ser75Phe, NP_001316532.1:p.Ser75Phe, NP_001316531.1:p.Ser3Phe, XP_047274261.1:p.Ser3Phe, XP_047274260.1:p.Ser3Phe, XP_047274263.1:p.Ser3Phe

                          13.

                          rs1479182001 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            6:109585961 (GRCh38)
                            6:109907164 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:109585960:T:C
                            Gene:
                            AK9 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.109585961T>C, NC_000006.11:g.109907164T>C, XM_006715376.4:c.2170A>G, XM_006715376.3:c.2170A>G, XM_006715376.2:c.2170A>G, XM_006715376.1:c.1954A>G, XM_011535553.4:c.1954A>G, XM_011535553.3:c.1954A>G, XM_011535553.2:c.1954A>G, XM_011535553.1:c.1954A>G, XM_011535556.4:c.2170A>G, XM_011535556.3:c.2170A>G, XM_011535556.2:c.2170A>G, XM_011535556.1:c.2170A>G, XM_011535559.4:c.2170A>G, XM_011535559.3:c.2170A>G, XM_011535559.2:c.2170A>G, XM_011535559.1:c.2170A>G, XM_011535550.3:c.2170A>G, XM_011535550.2:c.2170A>G, XM_011535550.1:c.2170A>G, XM_011535554.3:c.1849A>G, XM_011535554.2:c.1849A>G, XM_011535554.1:c.1849A>G, XM_011535552.3:c.1954A>G, XM_011535552.2:c.1954A>G, XM_011535552.1:c.1954A>G, NM_001145128.3:c.1954A>G, NM_001145128.2:c.1954A>G, XR_942337.3:n.2913A>G, XR_942337.2:n.2896A>G, XR_942337.1:n.2855A>G, XM_011535555.3:c.2170A>G, XM_011535555.2:c.2170A>G, XM_011535555.1:c.2170A>G, XM_017010388.3:c.2170A>G, XM_017010388.2:c.2170A>G, XM_017010388.1:c.2170A>G, XM_017010385.3:c.1309A>G, XM_017010385.2:c.1309A>G, XM_017010385.1:c.1309A>G, XM_024446350.2:c.2170A>G, XM_024446350.1:c.2170A>G, XM_017010384.2:c.2170A>G, XM_017010384.1:c.2170A>G, XM_017010386.2:c.2170A>G, XM_017010386.1:c.2170A>G, XM_047418305.1:c.1633A>G, XM_047418304.1:c.1633A>G, XM_047418306.1:c.808A>G, XM_047418307.1:c.1633A>G, XP_006715439.2:p.Ile724Val, XP_011533855.1:p.Ile652Val, XP_011533858.1:p.Ile724Val, XP_011533861.1:p.Ile724Val, XP_011533852.1:p.Ile724Val, XP_011533856.1:p.Ile617Val, XP_011533854.1:p.Ile652Val, NP_001138600.2:p.Ile652Val, XP_011533857.1:p.Ile724Val, XP_016865877.1:p.Ile724Val, XP_016865874.1:p.Ile437Val, XP_024302118.1:p.Ile724Val, XP_016865873.1:p.Ile724Val, XP_016865875.1:p.Ile724Val, XP_047274261.1:p.Ile545Val, XP_047274260.1:p.Ile545Val, XP_047274262.1:p.Ile270Val, XP_047274263.1:p.Ile545Val

                            14.

                            rs1478098765 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              6:109614436 (GRCh38)
                              6:109935639 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:109614435:C:A,NC_000006.12:109614435:C:T
                              Gene:
                              AK9 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000049/2 (ALFA)
                              T=0.000006/1 (GnomAD_exomes)
                              HGVS:
                              NC_000006.12:g.109614436C>A, NC_000006.12:g.109614436C>T, NC_000006.11:g.109935639C>A, NC_000006.11:g.109935639C>T, XM_006715376.4:c.1660G>T, XM_006715376.4:c.1660G>A, XM_006715376.3:c.1660G>T, XM_006715376.3:c.1660G>A, XM_006715376.2:c.1660G>T, XM_006715376.2:c.1660G>A, XM_006715376.1:c.1444G>T, XM_006715376.1:c.1444G>A, XM_011535553.4:c.1444G>T, XM_011535553.4:c.1444G>A, XM_011535553.3:c.1444G>T, XM_011535553.3:c.1444G>A, XM_011535553.2:c.1444G>T, XM_011535553.2:c.1444G>A, XM_011535553.1:c.1444G>T, XM_011535553.1:c.1444G>A, XM_011535556.4:c.1660G>T, XM_011535556.4:c.1660G>A, XM_011535556.3:c.1660G>T, XM_011535556.3:c.1660G>A, XM_011535556.2:c.1660G>T, XM_011535556.2:c.1660G>A, XM_011535556.1:c.1660G>T, XM_011535556.1:c.1660G>A, XM_011535559.4:c.1660G>T, XM_011535559.4:c.1660G>A, XM_011535559.3:c.1660G>T, XM_011535559.3:c.1660G>A, XM_011535559.2:c.1660G>T, XM_011535559.2:c.1660G>A, XM_011535559.1:c.1660G>T, XM_011535559.1:c.1660G>A, XM_011535550.3:c.1660G>T, XM_011535550.3:c.1660G>A, XM_011535550.2:c.1660G>T, XM_011535550.2:c.1660G>A, XM_011535550.1:c.1660G>T, XM_011535550.1:c.1660G>A, XM_011535554.3:c.1339G>T, XM_011535554.3:c.1339G>A, XM_011535554.2:c.1339G>T, XM_011535554.2:c.1339G>A, XM_011535554.1:c.1339G>T, XM_011535554.1:c.1339G>A, XM_011535552.3:c.1444G>T, XM_011535552.3:c.1444G>A, XM_011535552.2:c.1444G>T, XM_011535552.2:c.1444G>A, XM_011535552.1:c.1444G>T, XM_011535552.1:c.1444G>A, NM_001145128.3:c.1444G>T, NM_001145128.3:c.1444G>A, NM_001145128.2:c.1444G>T, NM_001145128.2:c.1444G>A, XR_942337.3:n.2403G>T, XR_942337.3:n.2403G>A, XR_942337.2:n.2386G>T, XR_942337.2:n.2386G>A, XR_942337.1:n.2345G>T, XR_942337.1:n.2345G>A, XM_011535555.3:c.1660G>T, XM_011535555.3:c.1660G>A, XM_011535555.2:c.1660G>T, XM_011535555.2:c.1660G>A, XM_011535555.1:c.1660G>T, XM_011535555.1:c.1660G>A, XM_017010388.3:c.1660G>T, XM_017010388.3:c.1660G>A, XM_017010388.2:c.1660G>T, XM_017010388.2:c.1660G>A, XM_017010388.1:c.1660G>T, XM_017010388.1:c.1660G>A, XM_017010385.3:c.799G>T, XM_017010385.3:c.799G>A, XM_017010385.2:c.799G>T, XM_017010385.2:c.799G>A, XM_017010385.1:c.799G>T, XM_017010385.1:c.799G>A, XM_024446350.2:c.1660G>T, XM_024446350.2:c.1660G>A, XM_024446350.1:c.1660G>T, XM_024446350.1:c.1660G>A, XM_017010384.2:c.1660G>T, XM_017010384.2:c.1660G>A, XM_017010384.1:c.1660G>T, XM_017010384.1:c.1660G>A, XM_017010386.2:c.1660G>T, XM_017010386.2:c.1660G>A, XM_017010386.1:c.1660G>T, XM_017010386.1:c.1660G>A, XM_047418305.1:c.1123G>T, XM_047418305.1:c.1123G>A, XM_047418304.1:c.1123G>T, XM_047418304.1:c.1123G>A, XM_047418306.1:c.298G>T, XM_047418306.1:c.298G>A, XM_047418307.1:c.1123G>T, XM_047418307.1:c.1123G>A, XP_006715439.2:p.Glu554Ter, XP_006715439.2:p.Glu554Lys, XP_011533855.1:p.Glu482Ter, XP_011533855.1:p.Glu482Lys, XP_011533858.1:p.Glu554Ter, XP_011533858.1:p.Glu554Lys, XP_011533861.1:p.Glu554Ter, XP_011533861.1:p.Glu554Lys, XP_011533852.1:p.Glu554Ter, XP_011533852.1:p.Glu554Lys, XP_011533856.1:p.Glu447Ter, XP_011533856.1:p.Glu447Lys, XP_011533854.1:p.Glu482Ter, XP_011533854.1:p.Glu482Lys, NP_001138600.2:p.Glu482Ter, NP_001138600.2:p.Glu482Lys, XP_011533857.1:p.Glu554Ter, XP_011533857.1:p.Glu554Lys, XP_016865877.1:p.Glu554Ter, XP_016865877.1:p.Glu554Lys, XP_016865874.1:p.Glu267Ter, XP_016865874.1:p.Glu267Lys, XP_024302118.1:p.Glu554Ter, XP_024302118.1:p.Glu554Lys, XP_016865873.1:p.Glu554Ter, XP_016865873.1:p.Glu554Lys, XP_016865875.1:p.Glu554Ter, XP_016865875.1:p.Glu554Lys, XP_047274261.1:p.Glu375Ter, XP_047274261.1:p.Glu375Lys, XP_047274260.1:p.Glu375Ter, XP_047274260.1:p.Glu375Lys, XP_047274262.1:p.Glu100Ter, XP_047274262.1:p.Glu100Lys, XP_047274263.1:p.Glu375Ter, XP_047274263.1:p.Glu375Lys

                              15.

                              rs1477310970 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                6:109632968 (GRCh38)
                                6:109954171 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:109632967:C:T
                                Gene:
                                AK9 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000047/1 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000006.12:g.109632968C>T, NC_000006.11:g.109954171C>T, NM_145025.5:c.1209G>A, NM_145025.4:c.1209G>A, XM_006715376.4:c.1425G>A, XM_006715376.3:c.1425G>A, XM_006715376.2:c.1425G>A, XM_006715376.1:c.1209G>A, XM_011535553.4:c.1209G>A, XM_011535553.3:c.1209G>A, XM_011535553.2:c.1209G>A, XM_011535553.1:c.1209G>A, XM_011535556.4:c.1425G>A, XM_011535556.3:c.1425G>A, XM_011535556.2:c.1425G>A, XM_011535556.1:c.1425G>A, XM_011535559.4:c.1425G>A, XM_011535559.3:c.1425G>A, XM_011535559.2:c.1425G>A, XM_011535559.1:c.1425G>A, XM_011535550.3:c.1425G>A, XM_011535550.2:c.1425G>A, XM_011535550.1:c.1425G>A, XM_011535552.3:c.1209G>A, XM_011535552.2:c.1209G>A, XM_011535552.1:c.1209G>A, NM_001145128.3:c.1209G>A, NM_001145128.2:c.1209G>A, XR_942337.3:n.2168G>A, XR_942337.2:n.2151G>A, XR_942337.1:n.2110G>A, XM_011535555.3:c.1425G>A, XM_011535555.2:c.1425G>A, XM_011535555.1:c.1425G>A, XM_017010388.3:c.1425G>A, XM_017010388.2:c.1425G>A, XM_017010388.1:c.1425G>A, XM_017010385.3:c.564G>A, XM_017010385.2:c.564G>A, XM_017010385.1:c.564G>A, XM_024446350.2:c.1425G>A, XM_024446350.1:c.1425G>A, XM_017010384.2:c.1425G>A, XM_017010384.1:c.1425G>A, XM_017010386.2:c.1425G>A, XM_017010386.1:c.1425G>A, NM_001329603.2:c.1425G>A, NM_001329603.1:c.1425G>A, NR_138057.2:n.1966G>A, NR_138057.1:n.1976G>A, NM_001329602.2:c.1209G>A, NM_001329602.1:c.1209G>A

                                16.

                                rs1476155915 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  6:109564150 (GRCh38)
                                  6:109885353 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:109564149:T:C
                                  Gene:
                                  AK9 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000006.12:g.109564150T>C, NC_000006.11:g.109885353T>C, XM_006715376.4:c.2781A>G, XM_006715376.3:c.2781A>G, XM_006715376.2:c.2781A>G, XM_006715376.1:c.2565A>G, XM_011535553.4:c.2565A>G, XM_011535553.3:c.2565A>G, XM_011535553.2:c.2565A>G, XM_011535553.1:c.2565A>G, XM_011535556.4:c.2781A>G, XM_011535556.3:c.2781A>G, XM_011535556.2:c.2781A>G, XM_011535556.1:c.2781A>G, XM_011535559.4:c.2781A>G, XM_011535559.3:c.2781A>G, XM_011535559.2:c.2781A>G, XM_011535559.1:c.2781A>G, XM_011535550.3:c.2781A>G, XM_011535550.2:c.2781A>G, XM_011535550.1:c.2781A>G, XM_011535554.3:c.2460A>G, XM_011535554.2:c.2460A>G, XM_011535554.1:c.2460A>G, XM_011535552.3:c.2565A>G, XM_011535552.2:c.2565A>G, XM_011535552.1:c.2565A>G, NM_001145128.3:c.2565A>G, NM_001145128.2:c.2565A>G, XR_942337.3:n.3524A>G, XR_942337.2:n.3507A>G, XR_942337.1:n.3466A>G, XM_011535555.3:c.2781A>G, XM_011535555.2:c.2781A>G, XM_011535555.1:c.2781A>G, XM_017010388.3:c.2781A>G, XM_017010388.2:c.2781A>G, XM_017010388.1:c.2781A>G, XM_017010385.3:c.1920A>G, XM_017010385.2:c.1920A>G, XM_017010385.1:c.1920A>G, XM_024446350.2:c.2781A>G, XM_024446350.1:c.2781A>G, XM_017010384.2:c.2781A>G, XM_017010384.1:c.2781A>G, XM_017010386.2:c.2781A>G, XM_017010386.1:c.2781A>G, XM_047418305.1:c.2244A>G, XM_047418304.1:c.2244A>G, XM_047418306.1:c.1419A>G, XM_047418307.1:c.2244A>G, XM_011535558.1:c.393A>G

                                  17.

                                  rs1475818022 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    6:109573578 (GRCh38)
                                    6:109894781 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:109573577:A:G
                                    Gene:
                                    AK9 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000028/1 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    G=0.00002/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.109573578A>G, NC_000006.11:g.109894781A>G, XM_006715376.4:c.2424T>C, XM_006715376.3:c.2424T>C, XM_006715376.2:c.2424T>C, XM_006715376.1:c.2208T>C, XM_011535553.4:c.2208T>C, XM_011535553.3:c.2208T>C, XM_011535553.2:c.2208T>C, XM_011535553.1:c.2208T>C, XM_011535556.4:c.2424T>C, XM_011535556.3:c.2424T>C, XM_011535556.2:c.2424T>C, XM_011535556.1:c.2424T>C, XM_011535559.4:c.2424T>C, XM_011535559.3:c.2424T>C, XM_011535559.2:c.2424T>C, XM_011535559.1:c.2424T>C, XM_011535550.3:c.2424T>C, XM_011535550.2:c.2424T>C, XM_011535550.1:c.2424T>C, XM_011535554.3:c.2103T>C, XM_011535554.2:c.2103T>C, XM_011535554.1:c.2103T>C, XM_011535552.3:c.2208T>C, XM_011535552.2:c.2208T>C, XM_011535552.1:c.2208T>C, NM_001145128.3:c.2208T>C, NM_001145128.2:c.2208T>C, XR_942337.3:n.3167T>C, XR_942337.2:n.3150T>C, XR_942337.1:n.3109T>C, XM_011535555.3:c.2424T>C, XM_011535555.2:c.2424T>C, XM_011535555.1:c.2424T>C, XM_017010388.3:c.2424T>C, XM_017010388.2:c.2424T>C, XM_017010388.1:c.2424T>C, XM_017010385.3:c.1563T>C, XM_017010385.2:c.1563T>C, XM_017010385.1:c.1563T>C, XM_024446350.2:c.2424T>C, XM_024446350.1:c.2424T>C, XM_017010384.2:c.2424T>C, XM_017010384.1:c.2424T>C, XM_017010386.2:c.2424T>C, XM_017010386.1:c.2424T>C, XM_047418305.1:c.1887T>C, XM_047418304.1:c.1887T>C, XM_047418306.1:c.1062T>C, XM_047418307.1:c.1887T>C, XM_011535558.1:c.36T>C

                                    18.

                                    rs1475368282 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:109671931 (GRCh38)
                                      6:109993134 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:109671930:C:T
                                      Gene:
                                      AK9 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.109671931C>T, NC_000006.11:g.109993134C>T, NM_145025.5:c.319G>A, NM_145025.4:c.319G>A, XM_006715376.4:c.535G>A, XM_006715376.3:c.535G>A, XM_006715376.2:c.535G>A, XM_006715376.1:c.319G>A, XM_011535553.4:c.319G>A, XM_011535553.3:c.319G>A, XM_011535553.2:c.319G>A, XM_011535553.1:c.319G>A, XM_011535556.4:c.535G>A, XM_011535556.3:c.535G>A, XM_011535556.2:c.535G>A, XM_011535556.1:c.535G>A, XM_011535559.4:c.535G>A, XM_011535559.3:c.535G>A, XM_011535559.2:c.535G>A, XM_011535559.1:c.535G>A, XM_011535550.3:c.535G>A, XM_011535550.2:c.535G>A, XM_011535550.1:c.535G>A, XM_011535554.3:c.535G>A, XM_011535554.2:c.535G>A, XM_011535554.1:c.535G>A, XM_011535552.3:c.319G>A, XM_011535552.2:c.319G>A, XM_011535552.1:c.319G>A, NM_001145128.3:c.319G>A, NM_001145128.2:c.319G>A, XR_942337.3:n.1278G>A, XR_942337.2:n.1261G>A, XR_942337.1:n.1220G>A, XM_011535555.3:c.535G>A, XM_011535555.2:c.535G>A, XM_011535555.1:c.535G>A, XM_017010388.3:c.535G>A, XM_017010388.2:c.535G>A, XM_017010388.1:c.535G>A, XM_024446350.2:c.535G>A, XM_024446350.1:c.535G>A, XM_017010384.2:c.535G>A, XM_017010384.1:c.535G>A, XM_017010386.2:c.535G>A, XM_017010386.1:c.535G>A, NM_001329603.2:c.535G>A, NM_001329603.1:c.535G>A, NR_138057.2:n.1061G>A, NR_138057.1:n.1071G>A, NM_001329602.2:c.319G>A, NM_001329602.1:c.319G>A, XM_047418305.1:c.319G>A, XM_047418304.1:c.319G>A, XM_047418307.1:c.319G>A, NP_659462.1:p.Val107Ile, XP_006715439.2:p.Val179Ile, XP_011533855.1:p.Val107Ile, XP_011533858.1:p.Val179Ile, XP_011533861.1:p.Val179Ile, XP_011533852.1:p.Val179Ile, XP_011533856.1:p.Val179Ile, XP_011533854.1:p.Val107Ile, NP_001138600.2:p.Val107Ile, XP_011533857.1:p.Val179Ile, XP_016865877.1:p.Val179Ile, XP_024302118.1:p.Val179Ile, XP_016865873.1:p.Val179Ile, XP_016865875.1:p.Val179Ile, NP_001316532.1:p.Val179Ile, NP_001316531.1:p.Val107Ile, XP_047274261.1:p.Val107Ile, XP_047274260.1:p.Val107Ile, XP_047274263.1:p.Val107Ile

                                      19.

                                      rs1475189990 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        6:109550230 (GRCh38)
                                        6:109871433 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:109550229:C:G
                                        Gene:
                                        AK9 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.109550230C>G, NC_000006.11:g.109871433C>G, XM_006715376.4:c.3040G>C, XM_006715376.3:c.3040G>C, XM_006715376.2:c.3040G>C, XM_006715376.1:c.2824G>C, XM_011535553.4:c.2824G>C, XM_011535553.3:c.2824G>C, XM_011535553.2:c.2824G>C, XM_011535553.1:c.2824G>C, XM_011535556.4:c.3040G>C, XM_011535556.3:c.3040G>C, XM_011535556.2:c.3040G>C, XM_011535556.1:c.3040G>C, XM_011535559.4:c.3040G>C, XM_011535559.3:c.3040G>C, XM_011535559.2:c.3040G>C, XM_011535559.1:c.3040G>C, XM_011535550.3:c.3040G>C, XM_011535550.2:c.3040G>C, XM_011535550.1:c.3040G>C, XM_011535554.3:c.2719G>C, XM_011535554.2:c.2719G>C, XM_011535554.1:c.2719G>C, XM_011535552.3:c.2824G>C, XM_011535552.2:c.2824G>C, XM_011535552.1:c.2824G>C, NM_001145128.3:c.2824G>C, NM_001145128.2:c.2824G>C, XR_942337.3:n.3783G>C, XR_942337.2:n.3766G>C, XR_942337.1:n.3725G>C, XM_011535555.3:c.3040G>C, XM_011535555.2:c.3040G>C, XM_011535555.1:c.3040G>C, XM_017010388.3:c.3040G>C, XM_017010388.2:c.3040G>C, XM_017010388.1:c.3040G>C, XM_017010385.3:c.2179G>C, XM_017010385.2:c.2179G>C, XM_017010385.1:c.2179G>C, XM_024446350.2:c.3040G>C, XM_024446350.1:c.3040G>C, XM_017010384.2:c.3040G>C, XM_017010384.1:c.3040G>C, XM_017010386.2:c.3040G>C, XM_017010386.1:c.3040G>C, NM_001001706.2:c.61G>C, XM_047418305.1:c.2503G>C, XM_047418304.1:c.2503G>C, XM_047418306.1:c.1678G>C, XM_047418307.1:c.2503G>C, XM_011535558.1:c.652G>C, NM_001146303.1:c.61G>C, NM_001001706.1:c.61G>C, XP_006715439.2:p.Glu1014Gln, XP_011533855.1:p.Glu942Gln, XP_011533858.1:p.Glu1014Gln, XP_011533861.1:p.Glu1014Gln, XP_011533852.1:p.Glu1014Gln, XP_011533856.1:p.Glu907Gln, XP_011533854.1:p.Glu942Gln, NP_001138600.2:p.Glu942Gln, XP_011533857.1:p.Glu1014Gln, XP_016865877.1:p.Glu1014Gln, XP_016865874.1:p.Glu727Gln, XP_024302118.1:p.Glu1014Gln, XP_016865873.1:p.Glu1014Gln, XP_016865875.1:p.Glu1014Gln, XP_047274261.1:p.Glu835Gln, XP_047274260.1:p.Glu835Gln, XP_047274262.1:p.Glu560Gln, XP_047274263.1:p.Glu835Gln, XP_011533860.1:p.Glu218Gln

                                        20.

                                        rs1474332579 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          6:109619182 (GRCh38)
                                          6:109940385 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:109619181:A:G,NC_000006.12:109619181:A:T
                                          Gene:
                                          AK9 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000006.12:g.109619182A>G, NC_000006.12:g.109619182A>T, NC_000006.11:g.109940385A>G, NC_000006.11:g.109940385A>T, XM_006715376.4:c.1525T>C, XM_006715376.4:c.1525T>A, XM_006715376.3:c.1525T>C, XM_006715376.3:c.1525T>A, XM_006715376.2:c.1525T>C, XM_006715376.2:c.1525T>A, XM_006715376.1:c.1309T>C, XM_006715376.1:c.1309T>A, XM_011535553.4:c.1309T>C, XM_011535553.4:c.1309T>A, XM_011535553.3:c.1309T>C, XM_011535553.3:c.1309T>A, XM_011535553.2:c.1309T>C, XM_011535553.2:c.1309T>A, XM_011535553.1:c.1309T>C, XM_011535553.1:c.1309T>A, XM_011535556.4:c.1525T>C, XM_011535556.4:c.1525T>A, XM_011535556.3:c.1525T>C, XM_011535556.3:c.1525T>A, XM_011535556.2:c.1525T>C, XM_011535556.2:c.1525T>A, XM_011535556.1:c.1525T>C, XM_011535556.1:c.1525T>A, XM_011535559.4:c.1525T>C, XM_011535559.4:c.1525T>A, XM_011535559.3:c.1525T>C, XM_011535559.3:c.1525T>A, XM_011535559.2:c.1525T>C, XM_011535559.2:c.1525T>A, XM_011535559.1:c.1525T>C, XM_011535559.1:c.1525T>A, XM_011535550.3:c.1525T>C, XM_011535550.3:c.1525T>A, XM_011535550.2:c.1525T>C, XM_011535550.2:c.1525T>A, XM_011535550.1:c.1525T>C, XM_011535550.1:c.1525T>A, XM_011535554.3:c.1204T>C, XM_011535554.3:c.1204T>A, XM_011535554.2:c.1204T>C, XM_011535554.2:c.1204T>A, XM_011535554.1:c.1204T>C, XM_011535554.1:c.1204T>A, XM_011535552.3:c.1309T>C, XM_011535552.3:c.1309T>A, XM_011535552.2:c.1309T>C, XM_011535552.2:c.1309T>A, XM_011535552.1:c.1309T>C, XM_011535552.1:c.1309T>A, NM_001145128.3:c.1309T>C, NM_001145128.3:c.1309T>A, NM_001145128.2:c.1309T>C, NM_001145128.2:c.1309T>A, XR_942337.3:n.2268T>C, XR_942337.3:n.2268T>A, XR_942337.2:n.2251T>C, XR_942337.2:n.2251T>A, XR_942337.1:n.2210T>C, XR_942337.1:n.2210T>A, XM_011535555.3:c.1525T>C, XM_011535555.3:c.1525T>A, XM_011535555.2:c.1525T>C, XM_011535555.2:c.1525T>A, XM_011535555.1:c.1525T>C, XM_011535555.1:c.1525T>A, XM_017010388.3:c.1525T>C, XM_017010388.3:c.1525T>A, XM_017010388.2:c.1525T>C, XM_017010388.2:c.1525T>A, XM_017010388.1:c.1525T>C, XM_017010388.1:c.1525T>A, XM_017010385.3:c.664T>C, XM_017010385.3:c.664T>A, XM_017010385.2:c.664T>C, XM_017010385.2:c.664T>A, XM_017010385.1:c.664T>C, XM_017010385.1:c.664T>A, XM_024446350.2:c.1525T>C, XM_024446350.2:c.1525T>A, XM_024446350.1:c.1525T>C, XM_024446350.1:c.1525T>A, XM_017010384.2:c.1525T>C, XM_017010384.2:c.1525T>A, XM_017010384.1:c.1525T>C, XM_017010384.1:c.1525T>A, XM_017010386.2:c.1525T>C, XM_017010386.2:c.1525T>A, XM_017010386.1:c.1525T>C, XM_017010386.1:c.1525T>A, XM_047418305.1:c.988T>C, XM_047418305.1:c.988T>A, XM_047418304.1:c.988T>C, XM_047418304.1:c.988T>A, XM_047418306.1:c.163T>C, XM_047418306.1:c.163T>A, XM_047418307.1:c.988T>C, XM_047418307.1:c.988T>A, XP_006715439.2:p.Leu509Ile, XP_011533855.1:p.Leu437Ile, XP_011533858.1:p.Leu509Ile, XP_011533861.1:p.Leu509Ile, XP_011533852.1:p.Leu509Ile, XP_011533856.1:p.Leu402Ile, XP_011533854.1:p.Leu437Ile, NP_001138600.2:p.Leu437Ile, XP_011533857.1:p.Leu509Ile, XP_016865877.1:p.Leu509Ile, XP_016865874.1:p.Leu222Ile, XP_024302118.1:p.Leu509Ile, XP_016865873.1:p.Leu509Ile, XP_016865875.1:p.Leu509Ile, XP_047274261.1:p.Leu330Ile, XP_047274260.1:p.Leu330Ile, XP_047274262.1:p.Leu55Ile, XP_047274263.1:p.Leu330Ile

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