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1.

rs1488642234 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    4:849717 (GRCh38)
    4:843505 (GRCh37)
    Canonical SPDI:
    NC_000004.12:849716:C:T
    Gene:
    GAK (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000004.12:g.849717C>T, NC_000004.11:g.843505C>T, NM_005255.4:c.3892G>A, NM_005255.3:c.3892G>A, NM_005255.2:c.3892G>A, XM_011513429.3:c.3838G>A, XM_011513429.2:c.3838G>A, XM_011513429.1:c.3838G>A, XM_011513425.3:c.4024G>A, XM_011513425.2:c.4024G>A, XM_011513425.1:c.4024G>A, XM_011513432.3:c.3760G>A, XM_011513432.2:c.3760G>A, XM_011513432.1:c.3760G>A, XM_011513426.3:c.3991G>A, XM_011513426.2:c.3991G>A, XM_011513426.1:c.3991G>A, XM_011513427.3:c.3934G>A, XM_011513427.2:c.3934G>A, XM_011513427.1:c.3934G>A, XM_011513428.3:c.3877G>A, XM_011513428.2:c.3877G>A, XM_011513428.1:c.3877G>A, XM_005272268.3:c.3859G>A, XM_005272268.2:c.3859G>A, XM_005272268.1:c.3859G>A, XM_011513434.3:c.3616G>A, XM_011513434.2:c.3616G>A, XM_011513434.1:c.3616G>A, XM_011513431.3:c.3775G>A, XM_011513431.2:c.3775G>A, XM_011513431.1:c.3775G>A, XM_005272270.3:c.3667G>A, XM_005272270.2:c.3667G>A, XM_005272270.1:c.3667G>A, XM_017007993.2:c.3616G>A, XM_017007993.1:c.3616G>A, XM_017007991.2:c.3802G>A, XM_017007991.1:c.3802G>A, XM_011513430.2:c.3787G>A, XM_011513430.1:c.3787G>A, XM_017007992.2:c.3697G>A, XM_017007992.1:c.3697G>A, NM_001318134.2:c.3655G>A, NM_001318134.1:c.3655G>A, XM_047450020.1:c.3559G>A, XM_047450008.1:c.3706G>A, XM_047450011.1:c.3673G>A, XM_047450016.1:c.3616G>A, XM_047450003.1:c.3760G>A, XM_047450002.1:c.3769G>A, XM_047450004.1:c.3754G>A, XM_047450005.1:c.3745G>A, XM_047450006.1:c.3742G>A, XM_047450007.1:c.3712G>A, XM_047450010.1:c.3685G>A, NM_001286833.1:c.3598G>A, XM_047450012.1:c.3655G>A, XM_047450013.1:c.3634G>A, XM_047450014.1:c.3628G>A, XM_047450015.1:c.3622G>A, XM_047450018.1:c.3595G>A, XM_047450019.1:c.3565G>A, XM_047450021.1:c.3538G>A, XM_047450022.1:c.3532G>A, XM_047450023.1:c.3520G>A, XM_047450024.1:c.3508G>A, XM_047450025.1:c.3505G>A, XM_047450026.1:c.3487G>A, XM_047450028.1:c.3475G>A, XM_047450034.1:c.3352G>A, XM_047450033.1:c.3352G>A, XM_047450029.1:c.3430G>A, XM_047450031.1:c.3397G>A, XM_047450030.1:c.3397G>A, XM_047450032.1:c.3385G>A, XM_047450035.1:c.3220G>A, NP_005246.2:p.Ala1298Thr, XP_011511731.1:p.Ala1280Thr, XP_011511727.1:p.Ala1342Thr, XP_011511734.1:p.Ala1254Thr, XP_011511728.1:p.Ala1331Thr, XP_011511729.1:p.Ala1312Thr, XP_011511730.1:p.Ala1293Thr, XP_005272325.1:p.Ala1287Thr, XP_011511736.1:p.Ala1206Thr, XP_011511733.1:p.Ala1259Thr, XP_005272327.1:p.Ala1223Thr, XP_016863482.1:p.Ala1206Thr, XP_016863480.1:p.Ala1268Thr, XP_011511732.1:p.Ala1263Thr, XP_016863481.1:p.Ala1233Thr, NP_001305063.1:p.Ala1219Thr, XP_047305976.1:p.Ala1187Thr, XP_047305964.1:p.Ala1236Thr, XP_047305967.1:p.Ala1225Thr, XP_047305972.1:p.Ala1206Thr, XP_047305959.1:p.Ala1254Thr, XP_047305958.1:p.Ala1257Thr, XP_047305960.1:p.Ala1252Thr, XP_047305961.1:p.Ala1249Thr, XP_047305962.1:p.Ala1248Thr, XP_047305963.1:p.Ala1238Thr, XP_047305966.1:p.Ala1229Thr, XP_047305968.1:p.Ala1219Thr, XP_047305969.1:p.Ala1212Thr, XP_047305970.1:p.Ala1210Thr, XP_047305971.1:p.Ala1208Thr, XP_047305974.1:p.Ala1199Thr, XP_047305975.1:p.Ala1189Thr, XP_047305977.1:p.Ala1180Thr, XP_047305978.1:p.Ala1178Thr, XP_047305979.1:p.Ala1174Thr, XP_047305980.1:p.Ala1170Thr, XP_047305981.1:p.Ala1169Thr, XP_047305982.1:p.Ala1163Thr, XP_047305984.1:p.Ala1159Thr, XP_047305990.1:p.Ala1118Thr, XP_047305989.1:p.Ala1118Thr, XP_047305985.1:p.Ala1144Thr, XP_047305987.1:p.Ala1133Thr, XP_047305986.1:p.Ala1133Thr, XP_047305988.1:p.Ala1129Thr, XP_047305991.1:p.Ala1074Thr

    2.

    rs1488326740 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      4:866497 (GRCh38)
      4:860285 (GRCh37)
      Canonical SPDI:
      NC_000004.12:866496:G:A
      Gene:
      GAK (Varview)
      Functional Consequence:
      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_000004.12:g.866497G>A, NC_000004.11:g.860285G>A, NG_083261.1:g.261G>A, NM_005255.4:c.2910C>T, NM_005255.3:c.2910C>T, NM_005255.2:c.2910C>T, XM_011513429.3:c.2724C>T, XM_011513429.2:c.2724C>T, XM_011513429.1:c.2724C>T, XM_011513425.3:c.2910C>T, XM_011513425.2:c.2910C>T, XM_011513425.1:c.2910C>T, XM_011513432.3:c.2646C>T, XM_011513432.2:c.2646C>T, XM_011513432.1:c.2646C>T, XM_011513426.3:c.2877C>T, XM_011513426.2:c.2877C>T, XM_011513426.1:c.2877C>T, XM_011513427.3:c.2820C>T, XM_011513427.2:c.2820C>T, XM_011513427.1:c.2820C>T, XM_011513428.3:c.2763C>T, XM_011513428.2:c.2763C>T, XM_011513428.1:c.2763C>T, XM_005272268.3:c.2877C>T, XM_005272268.2:c.2877C>T, XM_005272268.1:c.2877C>T, XM_011513434.3:c.2502C>T, XM_011513434.2:c.2502C>T, XM_011513434.1:c.2502C>T, XM_011513431.3:c.2910C>T, XM_011513431.2:c.2910C>T, XM_011513431.1:c.2910C>T, XM_005272270.3:c.2910C>T, XM_005272270.2:c.2910C>T, XM_005272270.1:c.2910C>T, XM_017007993.2:c.2502C>T, XM_017007993.1:c.2502C>T, XM_017007991.2:c.2820C>T, XM_017007991.1:c.2820C>T, XM_011513430.2:c.2673C>T, XM_011513430.1:c.2673C>T, XM_017007992.2:c.2583C>T, XM_017007992.1:c.2583C>T, NM_001318134.2:c.2673C>T, NM_001318134.1:c.2673C>T, XM_017007994.2:c.2910C>T, XM_017007994.1:c.2910C>T, XM_047450020.1:c.2577C>T, XM_047450008.1:c.2724C>T, XM_047450011.1:c.2691C>T, XM_047450016.1:c.2634C>T, XM_047450003.1:c.2646C>T, XM_047450002.1:c.2787C>T, XM_047450004.1:c.2640C>T, XM_047450005.1:c.2763C>T, XM_047450006.1:c.2877C>T, XM_047450007.1:c.2730C>T, XM_047450010.1:c.2820C>T, NM_001286833.1:c.2616C>T, XM_047450012.1:c.2673C>T, XM_047450013.1:c.2877C>T, XM_047450014.1:c.2763C>T, XM_047450015.1:c.2640C>T, XM_047450018.1:c.2730C>T, XM_047450019.1:c.2583C>T, XM_047450021.1:c.2673C>T, XM_047450022.1:c.2550C>T, XM_047450023.1:c.2763C>T, XM_047450024.1:c.2526C>T, XM_047450025.1:c.2640C>T, XM_047450026.1:c.2730C>T, XM_047450028.1:c.2493C>T, XM_047450034.1:c.2238C>T, XM_047450033.1:c.2238C>T, XM_047450029.1:c.2673C>T, XM_047450031.1:c.2640C>T, XM_047450030.1:c.2640C>T, XM_047450032.1:c.2403C>T, XM_047450035.1:c.2238C>T

      3.

      rs1486261976 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        4:868606 (GRCh38)
        4:862394 (GRCh37)
        Canonical SPDI:
        NC_000004.12:868605:T:A,NC_000004.12:868605:T:C
        Gene:
        GAK (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000094/1 (ALFA)
        A=0.000008/2 (TOPMED)
        C=0.000142/2 (TOMMO)
        HGVS:
        NC_000004.12:g.868606T>A, NC_000004.12:g.868606T>C, NC_000004.11:g.862394T>A, NC_000004.11:g.862394T>C, NM_005255.4:c.2328A>T, NM_005255.4:c.2328A>G, NM_005255.3:c.2328A>T, NM_005255.3:c.2328A>G, NM_005255.2:c.2328A>T, NM_005255.2:c.2328A>G, XM_011513429.3:c.2142A>T, XM_011513429.3:c.2142A>G, XM_011513429.2:c.2142A>T, XM_011513429.2:c.2142A>G, XM_011513429.1:c.2142A>T, XM_011513429.1:c.2142A>G, XM_011513425.3:c.2328A>T, XM_011513425.3:c.2328A>G, XM_011513425.2:c.2328A>T, XM_011513425.2:c.2328A>G, XM_011513425.1:c.2328A>T, XM_011513425.1:c.2328A>G, XM_011513432.3:c.2064A>T, XM_011513432.3:c.2064A>G, XM_011513432.2:c.2064A>T, XM_011513432.2:c.2064A>G, XM_011513432.1:c.2064A>T, XM_011513432.1:c.2064A>G, XM_011513426.3:c.2328A>T, XM_011513426.3:c.2328A>G, XM_011513426.2:c.2328A>T, XM_011513426.2:c.2328A>G, XM_011513426.1:c.2328A>T, XM_011513426.1:c.2328A>G, XM_011513427.3:c.2238A>T, XM_011513427.3:c.2238A>G, XM_011513427.2:c.2238A>T, XM_011513427.2:c.2238A>G, XM_011513427.1:c.2238A>T, XM_011513427.1:c.2238A>G, XM_005272268.3:c.2328A>T, XM_005272268.3:c.2328A>G, XM_005272268.2:c.2328A>T, XM_005272268.2:c.2328A>G, XM_005272268.1:c.2328A>T, XM_005272268.1:c.2328A>G, XM_011513434.3:c.1920A>T, XM_011513434.3:c.1920A>G, XM_011513434.2:c.1920A>T, XM_011513434.2:c.1920A>G, XM_011513434.1:c.1920A>T, XM_011513434.1:c.1920A>G, XM_011513431.3:c.2328A>T, XM_011513431.3:c.2328A>G, XM_011513431.2:c.2328A>T, XM_011513431.2:c.2328A>G, XM_011513431.1:c.2328A>T, XM_011513431.1:c.2328A>G, XM_005272270.3:c.2328A>T, XM_005272270.3:c.2328A>G, XM_005272270.2:c.2328A>T, XM_005272270.2:c.2328A>G, XM_005272270.1:c.2328A>T, XM_005272270.1:c.2328A>G, XM_017007993.2:c.1920A>T, XM_017007993.2:c.1920A>G, XM_017007993.1:c.1920A>T, XM_017007993.1:c.1920A>G, XM_017007991.2:c.2238A>T, XM_017007991.2:c.2238A>G, XM_017007991.1:c.2238A>T, XM_017007991.1:c.2238A>G, XM_011513430.2:c.2091A>T, XM_011513430.2:c.2091A>G, XM_011513430.1:c.2091A>T, XM_011513430.1:c.2091A>G, XM_017007992.2:c.2001A>T, XM_017007992.2:c.2001A>G, XM_017007992.1:c.2001A>T, XM_017007992.1:c.2001A>G, NM_001318134.2:c.2091A>T, NM_001318134.2:c.2091A>G, NM_001318134.1:c.2091A>T, NM_001318134.1:c.2091A>G, XM_017007994.2:c.2328A>T, XM_017007994.2:c.2328A>G, XM_017007994.1:c.2328A>T, XM_017007994.1:c.2328A>G, XM_047450008.1:c.2142A>T, XM_047450008.1:c.2142A>G, XM_047450011.1:c.2142A>T, XM_047450011.1:c.2142A>G, XM_047450016.1:c.2052A>T, XM_047450016.1:c.2052A>G, XM_047450003.1:c.2064A>T, XM_047450003.1:c.2064A>G, XM_047450002.1:c.2238A>T, XM_047450002.1:c.2238A>G, XM_047450004.1:c.2091A>T, XM_047450004.1:c.2091A>G, XM_047450006.1:c.2328A>T, XM_047450006.1:c.2328A>G, XM_047450010.1:c.2238A>T, XM_047450010.1:c.2238A>G, NM_001286833.1:c.2034A>T, NM_001286833.1:c.2034A>G, XM_047450013.1:c.2328A>T, XM_047450013.1:c.2328A>G, XM_047450015.1:c.2091A>T, XM_047450015.1:c.2091A>G, XM_047450019.1:c.2001A>T, XM_047450019.1:c.2001A>G, XM_047450021.1:c.2091A>T, XM_047450021.1:c.2091A>G, XM_047450022.1:c.2001A>T, XM_047450022.1:c.2001A>G, XM_047450025.1:c.2091A>T, XM_047450025.1:c.2091A>G, XM_047450034.1:c.1656A>T, XM_047450034.1:c.1656A>G, XM_047450033.1:c.1656A>T, XM_047450033.1:c.1656A>G, XM_047450029.1:c.2091A>T, XM_047450029.1:c.2091A>G, XM_047450031.1:c.2091A>T, XM_047450031.1:c.2091A>G, XM_047450035.1:c.1656A>T, XM_047450035.1:c.1656A>G

        4.

        rs1486232295 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          4:867095 (GRCh38)
          4:860883 (GRCh37)
          Canonical SPDI:
          NC_000004.12:867094:G:A
          Gene:
          GAK (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          A=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.867095G>A, NC_000004.11:g.860883G>A, NG_083261.1:g.859G>A, NM_005255.4:c.2733C>T, NM_005255.3:c.2733C>T, NM_005255.2:c.2733C>T, XM_011513429.3:c.2547C>T, XM_011513429.2:c.2547C>T, XM_011513429.1:c.2547C>T, XM_011513425.3:c.2733C>T, XM_011513425.2:c.2733C>T, XM_011513425.1:c.2733C>T, XM_011513432.3:c.2469C>T, XM_011513432.2:c.2469C>T, XM_011513432.1:c.2469C>T, XM_011513426.3:c.2733C>T, XM_011513426.2:c.2733C>T, XM_011513426.1:c.2733C>T, XM_011513427.3:c.2643C>T, XM_011513427.2:c.2643C>T, XM_011513427.1:c.2643C>T, XM_011513428.3:c.2586C>T, XM_011513428.2:c.2586C>T, XM_011513428.1:c.2586C>T, XM_005272268.3:c.2733C>T, XM_005272268.2:c.2733C>T, XM_005272268.1:c.2733C>T, XM_011513434.3:c.2325C>T, XM_011513434.2:c.2325C>T, XM_011513434.1:c.2325C>T, XM_011513431.3:c.2733C>T, XM_011513431.2:c.2733C>T, XM_011513431.1:c.2733C>T, XM_005272270.3:c.2733C>T, XM_005272270.2:c.2733C>T, XM_005272270.1:c.2733C>T, XM_017007993.2:c.2325C>T, XM_017007993.1:c.2325C>T, XM_017007991.2:c.2643C>T, XM_017007991.1:c.2643C>T, XM_011513430.2:c.2496C>T, XM_011513430.1:c.2496C>T, XM_017007992.2:c.2406C>T, XM_017007992.1:c.2406C>T, NM_001318134.2:c.2496C>T, NM_001318134.1:c.2496C>T, XM_017007994.2:c.2733C>T, XM_017007994.1:c.2733C>T, XM_047450020.1:c.2400C>T, XM_047450008.1:c.2547C>T, XM_047450011.1:c.2547C>T, XM_047450016.1:c.2457C>T, XM_047450003.1:c.2469C>T, XM_047450002.1:c.2643C>T, XM_047450004.1:c.2496C>T, XM_047450005.1:c.2586C>T, XM_047450006.1:c.2733C>T, XM_047450007.1:c.2586C>T, XM_047450010.1:c.2643C>T, NM_001286833.1:c.2439C>T, XM_047450012.1:c.2496C>T, XM_047450013.1:c.2733C>T, XM_047450014.1:c.2586C>T, XM_047450015.1:c.2496C>T, XM_047450018.1:c.2586C>T, XM_047450019.1:c.2406C>T, XM_047450021.1:c.2496C>T, XM_047450022.1:c.2406C>T, XM_047450023.1:c.2586C>T, XM_047450024.1:c.2349C>T, XM_047450025.1:c.2496C>T, XM_047450026.1:c.2586C>T, XM_047450028.1:c.2349C>T, XM_047450034.1:c.2061C>T, XM_047450033.1:c.2061C>T, XM_047450029.1:c.2496C>T, XM_047450031.1:c.2496C>T, XM_047450030.1:c.2496C>T, XM_047450032.1:c.2259C>T, XM_047450035.1:c.2061C>T

          5.

          rs1485509027 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:883451 (GRCh38)
            4:877239 (GRCh37)
            Canonical SPDI:
            NC_000004.12:883450:G:A
            Gene:
            GAK (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000004/1 (TOPMED)
            HGVS:
            NC_000004.12:g.883451G>A, NC_000004.11:g.877239G>A, NM_005255.4:c.1268C>T, NM_005255.3:c.1268C>T, NM_005255.2:c.1268C>T, XM_011513429.3:c.1082C>T, XM_011513429.2:c.1082C>T, XM_011513429.1:c.1082C>T, XM_011513425.3:c.1268C>T, XM_011513425.2:c.1268C>T, XM_011513425.1:c.1268C>T, XM_011513432.3:c.1004C>T, XM_011513432.2:c.1004C>T, XM_011513432.1:c.1004C>T, XM_011513426.3:c.1268C>T, XM_011513426.2:c.1268C>T, XM_011513426.1:c.1268C>T, XM_011513427.3:c.1178C>T, XM_011513427.2:c.1178C>T, XM_011513427.1:c.1178C>T, XM_011513428.3:c.1268C>T, XM_011513428.2:c.1268C>T, XM_011513428.1:c.1268C>T, XM_005272268.3:c.1268C>T, XM_005272268.2:c.1268C>T, XM_005272268.1:c.1268C>T, XM_011513434.3:c.860C>T, XM_011513434.2:c.860C>T, XM_011513434.1:c.860C>T, XM_011513431.3:c.1268C>T, XM_011513431.2:c.1268C>T, XM_011513431.1:c.1268C>T, XM_005272270.3:c.1268C>T, XM_005272270.2:c.1268C>T, XM_005272270.1:c.1268C>T, XM_017007993.2:c.860C>T, XM_017007993.1:c.860C>T, XM_017007991.2:c.1178C>T, XM_017007991.1:c.1178C>T, XM_011513430.2:c.1031C>T, XM_011513430.1:c.1031C>T, XM_017007992.2:c.941C>T, XM_017007992.1:c.941C>T, NM_001318134.2:c.1031C>T, NM_001318134.1:c.1031C>T, XM_017007994.2:c.1268C>T, XM_017007994.1:c.1268C>T, XM_047450020.1:c.1082C>T, XM_047450008.1:c.1082C>T, XM_047450011.1:c.1082C>T, XM_047450016.1:c.992C>T, XM_047450003.1:c.1004C>T, XM_047450002.1:c.1178C>T, XM_047450004.1:c.1031C>T, XM_047450005.1:c.1268C>T, XM_047450006.1:c.1268C>T, XM_047450007.1:c.1268C>T, XM_047450010.1:c.1178C>T, NM_001286833.1:c.974C>T, XM_047450012.1:c.1178C>T, XM_047450013.1:c.1268C>T, XM_047450014.1:c.1268C>T, XM_047450015.1:c.1031C>T, XM_047450018.1:c.1268C>T, XM_047450019.1:c.941C>T, XM_047450021.1:c.1031C>T, XM_047450022.1:c.941C>T, XM_047450023.1:c.1268C>T, XM_047450024.1:c.1031C>T, XM_047450025.1:c.1031C>T, XM_047450026.1:c.1268C>T, XM_047450028.1:c.1031C>T, XM_047450034.1:c.596C>T, XM_047450033.1:c.596C>T, XM_047450029.1:c.1031C>T, XM_047450031.1:c.1031C>T, XM_047450030.1:c.1178C>T, XM_047450032.1:c.941C>T, XM_047450035.1:c.596C>T, NP_005246.2:p.Pro423Leu, XP_011511731.1:p.Pro361Leu, XP_011511727.1:p.Pro423Leu, XP_011511734.1:p.Pro335Leu, XP_011511728.1:p.Pro423Leu, XP_011511729.1:p.Pro393Leu, XP_011511730.1:p.Pro423Leu, XP_005272325.1:p.Pro423Leu, XP_011511736.1:p.Pro287Leu, XP_011511733.1:p.Pro423Leu, XP_005272327.1:p.Pro423Leu, XP_016863482.1:p.Pro287Leu, XP_016863480.1:p.Pro393Leu, XP_011511732.1:p.Pro344Leu, XP_016863481.1:p.Pro314Leu, NP_001305063.1:p.Pro344Leu, XP_016863483.1:p.Pro423Leu, XP_047305976.1:p.Pro361Leu, XP_047305964.1:p.Pro361Leu, XP_047305967.1:p.Pro361Leu, XP_047305972.1:p.Pro331Leu, XP_047305959.1:p.Pro335Leu, XP_047305958.1:p.Pro393Leu, XP_047305960.1:p.Pro344Leu, XP_047305961.1:p.Pro423Leu, XP_047305962.1:p.Pro423Leu, XP_047305963.1:p.Pro423Leu, XP_047305966.1:p.Pro393Leu, XP_047305968.1:p.Pro393Leu, XP_047305969.1:p.Pro423Leu, XP_047305970.1:p.Pro423Leu, XP_047305971.1:p.Pro344Leu, XP_047305974.1:p.Pro423Leu, XP_047305975.1:p.Pro314Leu, XP_047305977.1:p.Pro344Leu, XP_047305978.1:p.Pro314Leu, XP_047305979.1:p.Pro423Leu, XP_047305980.1:p.Pro344Leu, XP_047305981.1:p.Pro344Leu, XP_047305982.1:p.Pro423Leu, XP_047305984.1:p.Pro344Leu, XP_047305990.1:p.Pro199Leu, XP_047305989.1:p.Pro199Leu, XP_047305985.1:p.Pro344Leu, XP_047305987.1:p.Pro344Leu, XP_047305986.1:p.Pro393Leu, XP_047305988.1:p.Pro314Leu, XP_047305991.1:p.Pro199Leu

            6.

            rs1485443377 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CTTGGC>- [Show Flanks]
              Chromosome:
              4:851821 (GRCh38)
              4:845609 (GRCh37)
              Canonical SPDI:
              NC_000004.12:851817:GGCCTTGGC:GGC
              Gene:
              GAK (Varview)
              Functional Consequence:
              intron_variant,inframe_deletion,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GGC=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              -=0.000007/1 (GnomAD)
              HGVS:
              NC_000004.12:g.851821_851826del, NC_000004.11:g.845609_845614del, NM_005255.4:c.3435_3440del, NM_005255.3:c.3435_3440del, NM_005255.2:c.3435_3440del, XM_011513429.3:c.3381_3386del, XM_011513429.2:c.3381_3386del, XM_011513429.1:c.3381_3386del, XM_011513425.3:c.3567_3572del, XM_011513425.2:c.3567_3572del, XM_011513425.1:c.3567_3572del, XM_011513432.3:c.3303_3308del, XM_011513432.2:c.3303_3308del, XM_011513432.1:c.3303_3308del, XM_011513426.3:c.3534_3539del, XM_011513426.2:c.3534_3539del, XM_011513426.1:c.3534_3539del, XM_011513427.3:c.3477_3482del, XM_011513427.2:c.3477_3482del, XM_011513427.1:c.3477_3482del, XM_011513428.3:c.3420_3425del, XM_011513428.2:c.3420_3425del, XM_011513428.1:c.3420_3425del, XM_005272268.3:c.3402_3407del, XM_005272268.2:c.3402_3407del, XM_005272268.1:c.3402_3407del, XM_011513434.3:c.3159_3164del, XM_011513434.2:c.3159_3164del, XM_011513434.1:c.3159_3164del, XM_011513431.3:c.3318_3323del, XM_011513431.2:c.3318_3323del, XM_011513431.1:c.3318_3323del, XM_017007993.2:c.3159_3164del, XM_017007993.1:c.3159_3164del, XM_017007991.2:c.3345_3350del, XM_017007991.1:c.3345_3350del, XM_011513430.2:c.3330_3335del, XM_011513430.1:c.3330_3335del, XM_017007992.2:c.3240_3245del, XM_017007992.1:c.3240_3245del, NM_001318134.2:c.3198_3203del, NM_001318134.1:c.3198_3203del, XM_017007994.2:c.3318_3323del, XM_017007994.1:c.3318_3323del, XM_047450020.1:c.3102_3107del, XM_047450008.1:c.3249_3254del, XM_047450011.1:c.3216_3221del, XM_047450016.1:c.3159_3164del, XM_047450003.1:c.3303_3308del, XM_047450002.1:c.3312_3317del, XM_047450004.1:c.3297_3302del, XM_047450005.1:c.3288_3293del, XM_047450006.1:c.3285_3290del, XM_047450007.1:c.3255_3260del, XM_047450010.1:c.3228_3233del, NM_001286833.1:c.3141_3146del, XM_047450012.1:c.3198_3203del, XM_047450014.1:c.3171_3176del, XM_047450015.1:c.3165_3170del, XM_047450018.1:c.3138_3143del, XM_047450019.1:c.3108_3113del, XM_047450021.1:c.3081_3086del, XM_047450022.1:c.3075_3080del, XM_047450024.1:c.3051_3056del, XM_047450025.1:c.3048_3053del, XM_047450028.1:c.3018_3023del, XM_047450034.1:c.2895_2900del, XM_047450033.1:c.2895_2900del, XM_047450032.1:c.2928_2933del, XM_047450035.1:c.2763_2768del, NP_005246.2:p.Arg1146_Pro1147del, XP_011511731.1:p.Arg1128_Pro1129del, XP_011511727.1:p.Arg1190_Pro1191del, XP_011511734.1:p.Arg1102_Pro1103del, XP_011511728.1:p.Arg1179_Pro1180del, XP_011511729.1:p.Arg1160_Pro1161del, XP_011511730.1:p.Arg1141_Pro1142del, XP_005272325.1:p.Arg1135_Pro1136del, XP_011511736.1:p.Arg1054_Pro1055del, XP_011511733.1:p.Arg1107_Pro1108del, XP_016863482.1:p.Arg1054_Pro1055del, XP_016863480.1:p.Arg1116_Pro1117del, XP_011511732.1:p.Arg1111_Pro1112del, XP_016863481.1:p.Arg1081_Pro1082del, NP_001305063.1:p.Arg1067_Pro1068del, XP_016863483.1:p.Arg1107_Pro1108del, XP_047305976.1:p.Arg1035_Pro1036del, XP_047305964.1:p.Arg1084_Pro1085del, XP_047305967.1:p.Arg1073_Pro1074del, XP_047305972.1:p.Arg1054_Pro1055del, XP_047305959.1:p.Arg1102_Pro1103del, XP_047305958.1:p.Arg1105_Pro1106del, XP_047305960.1:p.Arg1100_Pro1101del, XP_047305961.1:p.Arg1097_Pro1098del, XP_047305962.1:p.Arg1096_Pro1097del, XP_047305963.1:p.Arg1086_Pro1087del, XP_047305966.1:p.Arg1077_Pro1078del, XP_047305968.1:p.Arg1067_Pro1068del, XP_047305970.1:p.Arg1058_Pro1059del, XP_047305971.1:p.Arg1056_Pro1057del, XP_047305974.1:p.Arg1047_Pro1048del, XP_047305975.1:p.Arg1037_Pro1038del, XP_047305977.1:p.Arg1028_Pro1029del, XP_047305978.1:p.Arg1026_Pro1027del, XP_047305980.1:p.Arg1018_Pro1019del, XP_047305981.1:p.Arg1017_Pro1018del, XP_047305984.1:p.Arg1007_Pro1008del, XP_047305990.1:p.Arg966_Pro967del, XP_047305989.1:p.Arg966_Pro967del, XP_047305988.1:p.Arg977_Pro978del, XP_047305991.1:p.Arg922_Pro923del

              7.

              rs1485347478 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:877181 (GRCh38)
                4:870969 (GRCh37)
                Canonical SPDI:
                NC_000004.12:877180:G:A
                Gene:
                GAK (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000028/1 (ALFA)
                A=0.000008/2 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000004.12:g.877181G>A, NC_000004.11:g.870969G>A, NM_005255.4:c.1883C>T, NM_005255.3:c.1883C>T, NM_005255.2:c.1883C>T, XM_011513429.3:c.1697C>T, XM_011513429.2:c.1697C>T, XM_011513429.1:c.1697C>T, XM_011513425.3:c.1883C>T, XM_011513425.2:c.1883C>T, XM_011513425.1:c.1883C>T, XM_011513432.3:c.1619C>T, XM_011513432.2:c.1619C>T, XM_011513432.1:c.1619C>T, XM_011513426.3:c.1883C>T, XM_011513426.2:c.1883C>T, XM_011513426.1:c.1883C>T, XM_011513427.3:c.1793C>T, XM_011513427.2:c.1793C>T, XM_011513427.1:c.1793C>T, XM_011513428.3:c.1883C>T, XM_011513428.2:c.1883C>T, XM_011513428.1:c.1883C>T, XM_005272268.3:c.1883C>T, XM_005272268.2:c.1883C>T, XM_005272268.1:c.1883C>T, XM_011513434.3:c.1475C>T, XM_011513434.2:c.1475C>T, XM_011513434.1:c.1475C>T, XM_011513431.3:c.1883C>T, XM_011513431.2:c.1883C>T, XM_011513431.1:c.1883C>T, XM_005272270.3:c.1883C>T, XM_005272270.2:c.1883C>T, XM_005272270.1:c.1883C>T, XM_017007993.2:c.1475C>T, XM_017007993.1:c.1475C>T, XM_017007991.2:c.1793C>T, XM_017007991.1:c.1793C>T, XM_011513430.2:c.1646C>T, XM_011513430.1:c.1646C>T, XM_017007992.2:c.1556C>T, XM_017007992.1:c.1556C>T, NM_001318134.2:c.1646C>T, NM_001318134.1:c.1646C>T, XM_017007994.2:c.1883C>T, XM_017007994.1:c.1883C>T, XM_047450020.1:c.1697C>T, XM_047450008.1:c.1697C>T, XM_047450011.1:c.1697C>T, XM_047450016.1:c.1607C>T, XM_047450003.1:c.1619C>T, XM_047450002.1:c.1793C>T, XM_047450004.1:c.1646C>T, XM_047450005.1:c.1883C>T, XM_047450006.1:c.1883C>T, XM_047450007.1:c.1883C>T, XM_047450010.1:c.1793C>T, NM_001286833.1:c.1589C>T, XM_047450012.1:c.1793C>T, XM_047450013.1:c.1883C>T, XM_047450014.1:c.1883C>T, XM_047450015.1:c.1646C>T, XM_047450018.1:c.1883C>T, XM_047450019.1:c.1556C>T, XM_047450021.1:c.1646C>T, XM_047450022.1:c.1556C>T, XM_047450023.1:c.1883C>T, XM_047450024.1:c.1646C>T, XM_047450025.1:c.1646C>T, XM_047450026.1:c.1883C>T, XM_047450028.1:c.1646C>T, XM_047450034.1:c.1211C>T, XM_047450033.1:c.1211C>T, XM_047450029.1:c.1646C>T, XM_047450031.1:c.1646C>T, XM_047450030.1:c.1793C>T, XM_047450032.1:c.1556C>T, XM_047450035.1:c.1211C>T, NP_005246.2:p.Ala628Val, XP_011511731.1:p.Ala566Val, XP_011511727.1:p.Ala628Val, XP_011511734.1:p.Ala540Val, XP_011511728.1:p.Ala628Val, XP_011511729.1:p.Ala598Val, XP_011511730.1:p.Ala628Val, XP_005272325.1:p.Ala628Val, XP_011511736.1:p.Ala492Val, XP_011511733.1:p.Ala628Val, XP_005272327.1:p.Ala628Val, XP_016863482.1:p.Ala492Val, XP_016863480.1:p.Ala598Val, XP_011511732.1:p.Ala549Val, XP_016863481.1:p.Ala519Val, NP_001305063.1:p.Ala549Val, XP_016863483.1:p.Ala628Val, XP_047305976.1:p.Ala566Val, XP_047305964.1:p.Ala566Val, XP_047305967.1:p.Ala566Val, XP_047305972.1:p.Ala536Val, XP_047305959.1:p.Ala540Val, XP_047305958.1:p.Ala598Val, XP_047305960.1:p.Ala549Val, XP_047305961.1:p.Ala628Val, XP_047305962.1:p.Ala628Val, XP_047305963.1:p.Ala628Val, XP_047305966.1:p.Ala598Val, XP_047305968.1:p.Ala598Val, XP_047305969.1:p.Ala628Val, XP_047305970.1:p.Ala628Val, XP_047305971.1:p.Ala549Val, XP_047305974.1:p.Ala628Val, XP_047305975.1:p.Ala519Val, XP_047305977.1:p.Ala549Val, XP_047305978.1:p.Ala519Val, XP_047305979.1:p.Ala628Val, XP_047305980.1:p.Ala549Val, XP_047305981.1:p.Ala549Val, XP_047305982.1:p.Ala628Val, XP_047305984.1:p.Ala549Val, XP_047305990.1:p.Ala404Val, XP_047305989.1:p.Ala404Val, XP_047305985.1:p.Ala549Val, XP_047305987.1:p.Ala549Val, XP_047305986.1:p.Ala598Val, XP_047305988.1:p.Ala519Val, XP_047305991.1:p.Ala404Val

                8.

                rs1484439105 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A [Show Flanks]
                  Chromosome:
                  4:865180 (GRCh38)
                  4:858968 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:865179:T:A
                  Gene:
                  GAK (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000004.12:g.865180T>A, NC_000004.11:g.858968T>A, NM_005255.4:c.3108A>T, NM_005255.3:c.3108A>T, NM_005255.2:c.3108A>T, XM_011513429.3:c.2922A>T, XM_011513429.2:c.2922A>T, XM_011513429.1:c.2922A>T, XM_011513425.3:c.3108A>T, XM_011513425.2:c.3108A>T, XM_011513425.1:c.3108A>T, XM_011513432.3:c.2844A>T, XM_011513432.2:c.2844A>T, XM_011513432.1:c.2844A>T, XM_011513426.3:c.3075A>T, XM_011513426.2:c.3075A>T, XM_011513426.1:c.3075A>T, XM_011513427.3:c.3018A>T, XM_011513427.2:c.3018A>T, XM_011513427.1:c.3018A>T, XM_011513428.3:c.2961A>T, XM_011513428.2:c.2961A>T, XM_011513428.1:c.2961A>T, XM_005272268.3:c.3075A>T, XM_005272268.2:c.3075A>T, XM_005272268.1:c.3075A>T, XM_011513434.3:c.2700A>T, XM_011513434.2:c.2700A>T, XM_011513434.1:c.2700A>T, XM_011513431.3:c.3108A>T, XM_011513431.2:c.3108A>T, XM_011513431.1:c.3108A>T, XM_005272270.3:c.3108A>T, XM_005272270.2:c.3108A>T, XM_005272270.1:c.3108A>T, XM_017007993.2:c.2700A>T, XM_017007993.1:c.2700A>T, XM_017007991.2:c.3018A>T, XM_017007991.1:c.3018A>T, XM_011513430.2:c.2871A>T, XM_011513430.1:c.2871A>T, XM_017007992.2:c.2781A>T, XM_017007992.1:c.2781A>T, NM_001318134.2:c.2871A>T, NM_001318134.1:c.2871A>T, XM_017007994.2:c.3108A>T, XM_017007994.1:c.3108A>T, XM_047450020.1:c.2775A>T, XM_047450008.1:c.2922A>T, XM_047450011.1:c.2889A>T, XM_047450016.1:c.2832A>T, XM_047450003.1:c.2844A>T, XM_047450002.1:c.2985A>T, XM_047450004.1:c.2838A>T, XM_047450005.1:c.2961A>T, XM_047450006.1:c.3075A>T, XM_047450007.1:c.2928A>T, XM_047450010.1:c.3018A>T, NM_001286833.1:c.2814A>T, XM_047450012.1:c.2871A>T, XM_047450013.1:c.3075A>T, XM_047450014.1:c.2961A>T, XM_047450015.1:c.2838A>T, XM_047450018.1:c.2928A>T, XM_047450019.1:c.2781A>T, XM_047450021.1:c.2871A>T, XM_047450022.1:c.2748A>T, XM_047450023.1:c.2961A>T, XM_047450024.1:c.2724A>T, XM_047450025.1:c.2838A>T, XM_047450026.1:c.2928A>T, XM_047450028.1:c.2691A>T, XM_047450034.1:c.2436A>T, XM_047450033.1:c.2436A>T, XM_047450029.1:c.2871A>T, XM_047450031.1:c.2838A>T, XM_047450030.1:c.2838A>T, XM_047450032.1:c.2601A>T, XM_047450035.1:c.2436A>T

                  9.

                  rs1482939457 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    4:893985 (GRCh38)
                    4:887773 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:893984:G:A
                    Gene:
                    GAK (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (GnomAD_exomes)
                    A=0.00005/7 (GnomAD)
                    A=0.000072/19 (TOPMED)
                    HGVS:
                    NC_000004.12:g.893985G>A, NC_000004.11:g.887773G>A, NM_005255.4:c.766C>T, NM_005255.3:c.766C>T, NM_005255.2:c.766C>T, XM_011513429.3:c.580C>T, XM_011513429.2:c.580C>T, XM_011513429.1:c.580C>T, XM_011513425.3:c.766C>T, XM_011513425.2:c.766C>T, XM_011513425.1:c.766C>T, XM_011513432.3:c.502C>T, XM_011513432.2:c.502C>T, XM_011513432.1:c.502C>T, XM_011513426.3:c.766C>T, XM_011513426.2:c.766C>T, XM_011513426.1:c.766C>T, XM_011513427.3:c.676C>T, XM_011513427.2:c.676C>T, XM_011513427.1:c.676C>T, XM_011513428.3:c.766C>T, XM_011513428.2:c.766C>T, XM_011513428.1:c.766C>T, XM_005272268.3:c.766C>T, XM_005272268.2:c.766C>T, XM_005272268.1:c.766C>T, XM_011513434.3:c.358C>T, XM_011513434.2:c.358C>T, XM_011513434.1:c.358C>T, XM_011513431.3:c.766C>T, XM_011513431.2:c.766C>T, XM_011513431.1:c.766C>T, XM_005272270.3:c.766C>T, XM_005272270.2:c.766C>T, XM_005272270.1:c.766C>T, XM_017007993.2:c.358C>T, XM_017007993.1:c.358C>T, XM_017007991.2:c.676C>T, XM_017007991.1:c.676C>T, XM_011513430.2:c.529C>T, XM_011513430.1:c.529C>T, XM_017007992.2:c.439C>T, XM_017007992.1:c.439C>T, NM_001318134.2:c.529C>T, NM_001318134.1:c.529C>T, XM_017007994.2:c.766C>T, XM_017007994.1:c.766C>T, XM_047450020.1:c.580C>T, XM_047450008.1:c.580C>T, XM_047450011.1:c.580C>T, XM_047450016.1:c.490C>T, XM_047450003.1:c.502C>T, XM_047450002.1:c.676C>T, XM_047450004.1:c.529C>T, XM_047450005.1:c.766C>T, XM_047450006.1:c.766C>T, XM_047450007.1:c.766C>T, XM_047450010.1:c.676C>T, NM_001286833.1:c.529C>T, XM_047450012.1:c.676C>T, XM_047450013.1:c.766C>T, XM_047450014.1:c.766C>T, XM_047450015.1:c.529C>T, XM_047450018.1:c.766C>T, XM_047450019.1:c.439C>T, XM_047450021.1:c.529C>T, XM_047450022.1:c.439C>T, XM_047450023.1:c.766C>T, XM_047450024.1:c.529C>T, XM_047450025.1:c.529C>T, XM_047450026.1:c.766C>T, XM_047450028.1:c.529C>T, XM_047450034.1:c.94C>T, XM_047450033.1:c.94C>T, XM_047450029.1:c.529C>T, XM_047450031.1:c.529C>T, XM_047450030.1:c.676C>T, XM_047450032.1:c.439C>T, XM_047450035.1:c.94C>T

                    10.

                    rs1482728518 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      4:866439 (GRCh38)
                      4:860227 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:866436:CACA:CA
                      Gene:
                      GAK (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CACA=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000004.12:g.866437CA[1], NC_000004.11:g.860225CA[1], NG_083261.1:g.201CA[1], NM_005255.4:c.2969_2970del, NM_005255.3:c.2969_2970del, NM_005255.2:c.2969_2970del, XM_011513429.3:c.2783_2784del, XM_011513429.2:c.2783_2784del, XM_011513429.1:c.2783_2784del, XM_011513425.3:c.2969_2970del, XM_011513425.2:c.2969_2970del, XM_011513425.1:c.2969_2970del, XM_011513432.3:c.2705_2706del, XM_011513432.2:c.2705_2706del, XM_011513432.1:c.2705_2706del, XM_011513426.3:c.2936_2937del, XM_011513426.2:c.2936_2937del, XM_011513426.1:c.2936_2937del, XM_011513427.3:c.2879_2880del, XM_011513427.2:c.2879_2880del, XM_011513427.1:c.2879_2880del, XM_011513428.3:c.2822_2823del, XM_011513428.2:c.2822_2823del, XM_011513428.1:c.2822_2823del, XM_005272268.3:c.2936_2937del, XM_005272268.2:c.2936_2937del, XM_005272268.1:c.2936_2937del, XM_011513434.3:c.2561_2562del, XM_011513434.2:c.2561_2562del, XM_011513434.1:c.2561_2562del, XM_011513431.3:c.2969_2970del, XM_011513431.2:c.2969_2970del, XM_011513431.1:c.2969_2970del, XM_005272270.3:c.2969_2970del, XM_005272270.2:c.2969_2970del, XM_005272270.1:c.2969_2970del, XM_017007993.2:c.2561_2562del, XM_017007993.1:c.2561_2562del, XM_017007991.2:c.2879_2880del, XM_017007991.1:c.2879_2880del, XM_011513430.2:c.2732_2733del, XM_011513430.1:c.2732_2733del, XM_017007992.2:c.2642_2643del, XM_017007992.1:c.2642_2643del, NM_001318134.2:c.2732_2733del, NM_001318134.1:c.2732_2733del, XM_017007994.2:c.2969_2970del, XM_017007994.1:c.2969_2970del, XM_047450020.1:c.2636_2637del, XM_047450008.1:c.2783_2784del, XM_047450011.1:c.2750_2751del, XM_047450016.1:c.2693_2694del, XM_047450003.1:c.2705_2706del, XM_047450002.1:c.2846_2847del, XM_047450004.1:c.2699_2700del, XM_047450005.1:c.2822_2823del, XM_047450006.1:c.2936_2937del, XM_047450007.1:c.2789_2790del, XM_047450010.1:c.2879_2880del, NM_001286833.1:c.2675_2676del, XM_047450012.1:c.2732_2733del, XM_047450013.1:c.2936_2937del, XM_047450014.1:c.2822_2823del, XM_047450015.1:c.2699_2700del, XM_047450018.1:c.2789_2790del, XM_047450019.1:c.2642_2643del, XM_047450021.1:c.2732_2733del, XM_047450022.1:c.2609_2610del, XM_047450023.1:c.2822_2823del, XM_047450024.1:c.2585_2586del, XM_047450025.1:c.2699_2700del, XM_047450026.1:c.2789_2790del, XM_047450028.1:c.2552_2553del, XM_047450034.1:c.2297_2298del, XM_047450033.1:c.2297_2298del, XM_047450029.1:c.2732_2733del, XM_047450031.1:c.2699_2700del, XM_047450030.1:c.2699_2700del, XM_047450032.1:c.2462_2463del, XM_047450035.1:c.2297_2298del, NP_005246.2:p.Val990fs, XP_011511731.1:p.Val928fs, XP_011511727.1:p.Val990fs, XP_011511734.1:p.Val902fs, XP_011511728.1:p.Val979fs, XP_011511729.1:p.Val960fs, XP_011511730.1:p.Val941fs, XP_005272325.1:p.Val979fs, XP_011511736.1:p.Val854fs, XP_011511733.1:p.Val990fs, XP_005272327.1:p.Val990fs, XP_016863482.1:p.Val854fs, XP_016863480.1:p.Val960fs, XP_011511732.1:p.Val911fs, XP_016863481.1:p.Val881fs, NP_001305063.1:p.Val911fs, XP_016863483.1:p.Val990fs, XP_047305976.1:p.Val879fs, XP_047305964.1:p.Val928fs, XP_047305967.1:p.Val917fs, XP_047305972.1:p.Val898fs, XP_047305959.1:p.Val902fs, XP_047305958.1:p.Val949fs, XP_047305960.1:p.Val900fs, XP_047305961.1:p.Val941fs, XP_047305962.1:p.Val979fs, XP_047305963.1:p.Val930fs, XP_047305966.1:p.Val960fs, XP_047305968.1:p.Val911fs, XP_047305969.1:p.Val979fs, XP_047305970.1:p.Val941fs, XP_047305971.1:p.Val900fs, XP_047305974.1:p.Val930fs, XP_047305975.1:p.Val881fs, XP_047305977.1:p.Val911fs, XP_047305978.1:p.Val870fs, XP_047305979.1:p.Val941fs, XP_047305980.1:p.Val862fs, XP_047305981.1:p.Val900fs, XP_047305982.1:p.Val930fs, XP_047305984.1:p.Val851fs, XP_047305990.1:p.Val766fs, XP_047305989.1:p.Val766fs, XP_047305985.1:p.Val911fs, XP_047305987.1:p.Val900fs, XP_047305986.1:p.Val900fs, XP_047305988.1:p.Val821fs, XP_047305991.1:p.Val766fs

                      11.

                      rs1481284402 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        4:865194 (GRCh38)
                        4:858982 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:865193:C:G
                        Gene:
                        GAK (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000004.12:g.865194C>G, NC_000004.11:g.858982C>G, NM_005255.4:c.3094G>C, NM_005255.3:c.3094G>C, NM_005255.2:c.3094G>C, XM_011513429.3:c.2908G>C, XM_011513429.2:c.2908G>C, XM_011513429.1:c.2908G>C, XM_011513425.3:c.3094G>C, XM_011513425.2:c.3094G>C, XM_011513425.1:c.3094G>C, XM_011513432.3:c.2830G>C, XM_011513432.2:c.2830G>C, XM_011513432.1:c.2830G>C, XM_011513426.3:c.3061G>C, XM_011513426.2:c.3061G>C, XM_011513426.1:c.3061G>C, XM_011513427.3:c.3004G>C, XM_011513427.2:c.3004G>C, XM_011513427.1:c.3004G>C, XM_011513428.3:c.2947G>C, XM_011513428.2:c.2947G>C, XM_011513428.1:c.2947G>C, XM_005272268.3:c.3061G>C, XM_005272268.2:c.3061G>C, XM_005272268.1:c.3061G>C, XM_011513434.3:c.2686G>C, XM_011513434.2:c.2686G>C, XM_011513434.1:c.2686G>C, XM_011513431.3:c.3094G>C, XM_011513431.2:c.3094G>C, XM_011513431.1:c.3094G>C, XM_005272270.3:c.3094G>C, XM_005272270.2:c.3094G>C, XM_005272270.1:c.3094G>C, XM_017007993.2:c.2686G>C, XM_017007993.1:c.2686G>C, XM_017007991.2:c.3004G>C, XM_017007991.1:c.3004G>C, XM_011513430.2:c.2857G>C, XM_011513430.1:c.2857G>C, XM_017007992.2:c.2767G>C, XM_017007992.1:c.2767G>C, NM_001318134.2:c.2857G>C, NM_001318134.1:c.2857G>C, XM_017007994.2:c.3094G>C, XM_017007994.1:c.3094G>C, XM_047450020.1:c.2761G>C, XM_047450008.1:c.2908G>C, XM_047450011.1:c.2875G>C, XM_047450016.1:c.2818G>C, XM_047450003.1:c.2830G>C, XM_047450002.1:c.2971G>C, XM_047450004.1:c.2824G>C, XM_047450005.1:c.2947G>C, XM_047450006.1:c.3061G>C, XM_047450007.1:c.2914G>C, XM_047450010.1:c.3004G>C, NM_001286833.1:c.2800G>C, XM_047450012.1:c.2857G>C, XM_047450013.1:c.3061G>C, XM_047450014.1:c.2947G>C, XM_047450015.1:c.2824G>C, XM_047450018.1:c.2914G>C, XM_047450019.1:c.2767G>C, XM_047450021.1:c.2857G>C, XM_047450022.1:c.2734G>C, XM_047450023.1:c.2947G>C, XM_047450024.1:c.2710G>C, XM_047450025.1:c.2824G>C, XM_047450026.1:c.2914G>C, XM_047450028.1:c.2677G>C, XM_047450034.1:c.2422G>C, XM_047450033.1:c.2422G>C, XM_047450029.1:c.2857G>C, XM_047450031.1:c.2824G>C, XM_047450030.1:c.2824G>C, XM_047450032.1:c.2587G>C, XM_047450035.1:c.2422G>C, NP_005246.2:p.Asp1032His, XP_011511731.1:p.Asp970His, XP_011511727.1:p.Asp1032His, XP_011511734.1:p.Asp944His, XP_011511728.1:p.Asp1021His, XP_011511729.1:p.Asp1002His, XP_011511730.1:p.Asp983His, XP_005272325.1:p.Asp1021His, XP_011511736.1:p.Asp896His, XP_011511733.1:p.Asp1032His, XP_005272327.1:p.Asp1032His, XP_016863482.1:p.Asp896His, XP_016863480.1:p.Asp1002His, XP_011511732.1:p.Asp953His, XP_016863481.1:p.Asp923His, NP_001305063.1:p.Asp953His, XP_016863483.1:p.Asp1032His, XP_047305976.1:p.Asp921His, XP_047305964.1:p.Asp970His, XP_047305967.1:p.Asp959His, XP_047305972.1:p.Asp940His, XP_047305959.1:p.Asp944His, XP_047305958.1:p.Asp991His, XP_047305960.1:p.Asp942His, XP_047305961.1:p.Asp983His, XP_047305962.1:p.Asp1021His, XP_047305963.1:p.Asp972His, XP_047305966.1:p.Asp1002His, XP_047305968.1:p.Asp953His, XP_047305969.1:p.Asp1021His, XP_047305970.1:p.Asp983His, XP_047305971.1:p.Asp942His, XP_047305974.1:p.Asp972His, XP_047305975.1:p.Asp923His, XP_047305977.1:p.Asp953His, XP_047305978.1:p.Asp912His, XP_047305979.1:p.Asp983His, XP_047305980.1:p.Asp904His, XP_047305981.1:p.Asp942His, XP_047305982.1:p.Asp972His, XP_047305984.1:p.Asp893His, XP_047305990.1:p.Asp808His, XP_047305989.1:p.Asp808His, XP_047305985.1:p.Asp953His, XP_047305987.1:p.Asp942His, XP_047305986.1:p.Asp942His, XP_047305988.1:p.Asp863His, XP_047305991.1:p.Asp808His

                        12.

                        rs1480840279 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          4:850002 (GRCh38)
                          4:843790 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:850001:G:A
                          Gene:
                          GAK (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                          HGVS:
                          NC_000004.12:g.850002G>A, NC_000004.11:g.843790G>A, NM_005255.4:c.3724C>T, NM_005255.3:c.3724C>T, NM_005255.2:c.3724C>T, XM_011513429.3:c.3670C>T, XM_011513429.2:c.3670C>T, XM_011513429.1:c.3670C>T, XM_011513425.3:c.3856C>T, XM_011513425.2:c.3856C>T, XM_011513425.1:c.3856C>T, XM_011513432.3:c.3592C>T, XM_011513432.2:c.3592C>T, XM_011513432.1:c.3592C>T, XM_011513426.3:c.3823C>T, XM_011513426.2:c.3823C>T, XM_011513426.1:c.3823C>T, XM_011513427.3:c.3766C>T, XM_011513427.2:c.3766C>T, XM_011513427.1:c.3766C>T, XM_011513428.3:c.3709C>T, XM_011513428.2:c.3709C>T, XM_011513428.1:c.3709C>T, XM_005272268.3:c.3691C>T, XM_005272268.2:c.3691C>T, XM_005272268.1:c.3691C>T, XM_011513434.3:c.3448C>T, XM_011513434.2:c.3448C>T, XM_011513434.1:c.3448C>T, XM_011513431.3:c.3607C>T, XM_011513431.2:c.3607C>T, XM_011513431.1:c.3607C>T, XM_005272270.3:c.3499C>T, XM_005272270.2:c.3499C>T, XM_005272270.1:c.3499C>T, XM_017007993.2:c.3448C>T, XM_017007993.1:c.3448C>T, XM_017007991.2:c.3634C>T, XM_017007991.1:c.3634C>T, XM_011513430.2:c.3619C>T, XM_011513430.1:c.3619C>T, XM_017007992.2:c.3529C>T, XM_017007992.1:c.3529C>T, NM_001318134.2:c.3487C>T, NM_001318134.1:c.3487C>T, XM_047450020.1:c.3391C>T, XM_047450008.1:c.3538C>T, XM_047450011.1:c.3505C>T, XM_047450016.1:c.3448C>T, XM_047450003.1:c.3592C>T, XM_047450002.1:c.3601C>T, XM_047450004.1:c.3586C>T, XM_047450005.1:c.3577C>T, XM_047450006.1:c.3574C>T, XM_047450007.1:c.3544C>T, XM_047450010.1:c.3517C>T, NM_001286833.1:c.3430C>T, XM_047450012.1:c.3487C>T, XM_047450013.1:c.3466C>T, XM_047450014.1:c.3460C>T, XM_047450015.1:c.3454C>T, XM_047450018.1:c.3427C>T, XM_047450019.1:c.3397C>T, XM_047450021.1:c.3370C>T, XM_047450022.1:c.3364C>T, XM_047450023.1:c.3352C>T, XM_047450024.1:c.3340C>T, XM_047450025.1:c.3337C>T, XM_047450026.1:c.3319C>T, XM_047450028.1:c.3307C>T, XM_047450034.1:c.3184C>T, XM_047450033.1:c.3184C>T, XM_047450029.1:c.3262C>T, XM_047450031.1:c.3229C>T, XM_047450030.1:c.3229C>T, XM_047450032.1:c.3217C>T, XM_047450035.1:c.3052C>T

                          13.

                          rs1480050356 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            4:876556 (GRCh38)
                            4:870344 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:876555:C:A
                            Gene:
                            GAK (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.876556C>A, NC_000004.11:g.870344C>A, NM_005255.4:c.2028G>T, NM_005255.3:c.2028G>T, NM_005255.2:c.2028G>T, XM_011513429.3:c.1842G>T, XM_011513429.2:c.1842G>T, XM_011513429.1:c.1842G>T, XM_011513425.3:c.2028G>T, XM_011513425.2:c.2028G>T, XM_011513425.1:c.2028G>T, XM_011513432.3:c.1764G>T, XM_011513432.2:c.1764G>T, XM_011513432.1:c.1764G>T, XM_011513426.3:c.2028G>T, XM_011513426.2:c.2028G>T, XM_011513426.1:c.2028G>T, XM_011513427.3:c.1938G>T, XM_011513427.2:c.1938G>T, XM_011513427.1:c.1938G>T, XM_011513428.3:c.2028G>T, XM_011513428.2:c.2028G>T, XM_011513428.1:c.2028G>T, XM_005272268.3:c.2028G>T, XM_005272268.2:c.2028G>T, XM_005272268.1:c.2028G>T, XM_011513434.3:c.1620G>T, XM_011513434.2:c.1620G>T, XM_011513434.1:c.1620G>T, XM_011513431.3:c.2028G>T, XM_011513431.2:c.2028G>T, XM_011513431.1:c.2028G>T, XM_005272270.3:c.2028G>T, XM_005272270.2:c.2028G>T, XM_005272270.1:c.2028G>T, XM_017007993.2:c.1620G>T, XM_017007993.1:c.1620G>T, XM_017007991.2:c.1938G>T, XM_017007991.1:c.1938G>T, XM_011513430.2:c.1791G>T, XM_011513430.1:c.1791G>T, XM_017007992.2:c.1701G>T, XM_017007992.1:c.1701G>T, NM_001318134.2:c.1791G>T, NM_001318134.1:c.1791G>T, XM_017007994.2:c.2028G>T, XM_017007994.1:c.2028G>T, XM_047450020.1:c.1842G>T, XM_047450008.1:c.1842G>T, XM_047450011.1:c.1842G>T, XM_047450016.1:c.1752G>T, XM_047450003.1:c.1764G>T, XM_047450002.1:c.1938G>T, XM_047450004.1:c.1791G>T, XM_047450005.1:c.2028G>T, XM_047450006.1:c.2028G>T, XM_047450007.1:c.2028G>T, XM_047450010.1:c.1938G>T, NM_001286833.1:c.1734G>T, XM_047450012.1:c.1938G>T, XM_047450013.1:c.2028G>T, XM_047450014.1:c.2028G>T, XM_047450015.1:c.1791G>T, XM_047450018.1:c.2028G>T, XM_047450019.1:c.1701G>T, XM_047450021.1:c.1791G>T, XM_047450022.1:c.1701G>T, XM_047450023.1:c.2028G>T, XM_047450024.1:c.1791G>T, XM_047450025.1:c.1791G>T, XM_047450026.1:c.2028G>T, XM_047450028.1:c.1791G>T, XM_047450034.1:c.1356G>T, XM_047450033.1:c.1356G>T, XM_047450029.1:c.1791G>T, XM_047450031.1:c.1791G>T, XM_047450030.1:c.1938G>T, XM_047450032.1:c.1701G>T, XM_047450035.1:c.1356G>T

                            14.

                            rs1478752897 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              4:859646 (GRCh38)
                              4:853434 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:859645:G:C,NC_000004.12:859645:G:T
                              Gene:
                              GAK (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000004.12:g.859646G>C, NC_000004.12:g.859646G>T, NC_000004.11:g.853434G>C, NC_000004.11:g.853434G>T, NM_005255.4:c.3243C>G, NM_005255.4:c.3243C>A, NM_005255.3:c.3243C>G, NM_005255.3:c.3243C>A, NM_005255.2:c.3243C>G, NM_005255.2:c.3243C>A, XM_011513429.3:c.3057C>G, XM_011513429.3:c.3057C>A, XM_011513429.2:c.3057C>G, XM_011513429.2:c.3057C>A, XM_011513429.1:c.3057C>G, XM_011513429.1:c.3057C>A, XM_011513425.3:c.3243C>G, XM_011513425.3:c.3243C>A, XM_011513425.2:c.3243C>G, XM_011513425.2:c.3243C>A, XM_011513425.1:c.3243C>G, XM_011513425.1:c.3243C>A, XM_011513432.3:c.2979C>G, XM_011513432.3:c.2979C>A, XM_011513432.2:c.2979C>G, XM_011513432.2:c.2979C>A, XM_011513432.1:c.2979C>G, XM_011513432.1:c.2979C>A, XM_011513426.3:c.3210C>G, XM_011513426.3:c.3210C>A, XM_011513426.2:c.3210C>G, XM_011513426.2:c.3210C>A, XM_011513426.1:c.3210C>G, XM_011513426.1:c.3210C>A, XM_011513427.3:c.3153C>G, XM_011513427.3:c.3153C>A, XM_011513427.2:c.3153C>G, XM_011513427.2:c.3153C>A, XM_011513427.1:c.3153C>G, XM_011513427.1:c.3153C>A, XM_011513428.3:c.3096C>G, XM_011513428.3:c.3096C>A, XM_011513428.2:c.3096C>G, XM_011513428.2:c.3096C>A, XM_011513428.1:c.3096C>G, XM_011513428.1:c.3096C>A, XM_005272268.3:c.3210C>G, XM_005272268.3:c.3210C>A, XM_005272268.2:c.3210C>G, XM_005272268.2:c.3210C>A, XM_005272268.1:c.3210C>G, XM_005272268.1:c.3210C>A, XM_011513434.3:c.2835C>G, XM_011513434.3:c.2835C>A, XM_011513434.2:c.2835C>G, XM_011513434.2:c.2835C>A, XM_011513434.1:c.2835C>G, XM_011513434.1:c.2835C>A, XM_005272270.3:c.3243C>G, XM_005272270.3:c.3243C>A, XM_005272270.2:c.3243C>G, XM_005272270.2:c.3243C>A, XM_005272270.1:c.3243C>G, XM_005272270.1:c.3243C>A, XM_017007993.2:c.2835C>G, XM_017007993.2:c.2835C>A, XM_017007993.1:c.2835C>G, XM_017007993.1:c.2835C>A, XM_017007991.2:c.3153C>G, XM_017007991.2:c.3153C>A, XM_017007991.1:c.3153C>G, XM_017007991.1:c.3153C>A, XM_011513430.2:c.3006C>G, XM_011513430.2:c.3006C>A, XM_011513430.1:c.3006C>G, XM_011513430.1:c.3006C>A, XM_017007992.2:c.2916C>G, XM_017007992.2:c.2916C>A, XM_017007992.1:c.2916C>G, XM_017007992.1:c.2916C>A, NM_001318134.2:c.3006C>G, NM_001318134.2:c.3006C>A, NM_001318134.1:c.3006C>G, NM_001318134.1:c.3006C>A, XM_047450020.1:c.2910C>G, XM_047450020.1:c.2910C>A, XM_047450008.1:c.3057C>G, XM_047450008.1:c.3057C>A, XM_047450011.1:c.3024C>G, XM_047450011.1:c.3024C>A, XM_047450016.1:c.2967C>G, XM_047450016.1:c.2967C>A, XM_047450003.1:c.2979C>G, XM_047450003.1:c.2979C>A, XM_047450002.1:c.3120C>G, XM_047450002.1:c.3120C>A, XM_047450004.1:c.2973C>G, XM_047450004.1:c.2973C>A, XM_047450005.1:c.3096C>G, XM_047450005.1:c.3096C>A, XM_047450007.1:c.3063C>G, XM_047450007.1:c.3063C>A, NM_001286833.1:c.2949C>G, NM_001286833.1:c.2949C>A, XM_047450012.1:c.3006C>G, XM_047450012.1:c.3006C>A, XM_047450013.1:c.3210C>G, XM_047450013.1:c.3210C>A, XM_047450015.1:c.2973C>G, XM_047450015.1:c.2973C>A, XM_047450019.1:c.2916C>G, XM_047450019.1:c.2916C>A, XM_047450022.1:c.2883C>G, XM_047450022.1:c.2883C>A, XM_047450023.1:c.3096C>G, XM_047450023.1:c.3096C>A, XM_047450024.1:c.2859C>G, XM_047450024.1:c.2859C>A, XM_047450026.1:c.3063C>G, XM_047450026.1:c.3063C>A, XM_047450028.1:c.2826C>G, XM_047450028.1:c.2826C>A, XM_047450034.1:c.2571C>G, XM_047450034.1:c.2571C>A, XM_047450033.1:c.2571C>G, XM_047450033.1:c.2571C>A, XM_047450029.1:c.3006C>G, XM_047450029.1:c.3006C>A, XM_047450031.1:c.2973C>G, XM_047450031.1:c.2973C>A, XM_047450030.1:c.2973C>G, XM_047450030.1:c.2973C>A, XM_047450032.1:c.2736C>G, XM_047450032.1:c.2736C>A, XM_047450035.1:c.2571C>G, XM_047450035.1:c.2571C>A, NP_005246.2:p.Asp1081Glu, NP_005246.2:p.Asp1081Glu, XP_011511731.1:p.Asp1019Glu, XP_011511731.1:p.Asp1019Glu, XP_011511727.1:p.Asp1081Glu, XP_011511727.1:p.Asp1081Glu, XP_011511734.1:p.Asp993Glu, XP_011511734.1:p.Asp993Glu, XP_011511728.1:p.Asp1070Glu, XP_011511728.1:p.Asp1070Glu, XP_011511729.1:p.Asp1051Glu, XP_011511729.1:p.Asp1051Glu, XP_011511730.1:p.Asp1032Glu, XP_011511730.1:p.Asp1032Glu, XP_005272325.1:p.Asp1070Glu, XP_005272325.1:p.Asp1070Glu, XP_011511736.1:p.Asp945Glu, XP_011511736.1:p.Asp945Glu, XP_005272327.1:p.Asp1081Glu, XP_005272327.1:p.Asp1081Glu, XP_016863482.1:p.Asp945Glu, XP_016863482.1:p.Asp945Glu, XP_016863480.1:p.Asp1051Glu, XP_016863480.1:p.Asp1051Glu, XP_011511732.1:p.Asp1002Glu, XP_011511732.1:p.Asp1002Glu, XP_016863481.1:p.Asp972Glu, XP_016863481.1:p.Asp972Glu, NP_001305063.1:p.Asp1002Glu, NP_001305063.1:p.Asp1002Glu, XP_047305976.1:p.Asp970Glu, XP_047305976.1:p.Asp970Glu, XP_047305964.1:p.Asp1019Glu, XP_047305964.1:p.Asp1019Glu, XP_047305967.1:p.Asp1008Glu, XP_047305967.1:p.Asp1008Glu, XP_047305972.1:p.Asp989Glu, XP_047305972.1:p.Asp989Glu, XP_047305959.1:p.Asp993Glu, XP_047305959.1:p.Asp993Glu, XP_047305958.1:p.Asp1040Glu, XP_047305958.1:p.Asp1040Glu, XP_047305960.1:p.Asp991Glu, XP_047305960.1:p.Asp991Glu, XP_047305961.1:p.Asp1032Glu, XP_047305961.1:p.Asp1032Glu, XP_047305963.1:p.Asp1021Glu, XP_047305963.1:p.Asp1021Glu, XP_047305968.1:p.Asp1002Glu, XP_047305968.1:p.Asp1002Glu, XP_047305969.1:p.Asp1070Glu, XP_047305969.1:p.Asp1070Glu, XP_047305971.1:p.Asp991Glu, XP_047305971.1:p.Asp991Glu, XP_047305975.1:p.Asp972Glu, XP_047305975.1:p.Asp972Glu, XP_047305978.1:p.Asp961Glu, XP_047305978.1:p.Asp961Glu, XP_047305979.1:p.Asp1032Glu, XP_047305979.1:p.Asp1032Glu, XP_047305980.1:p.Asp953Glu, XP_047305980.1:p.Asp953Glu, XP_047305982.1:p.Asp1021Glu, XP_047305982.1:p.Asp1021Glu, XP_047305984.1:p.Asp942Glu, XP_047305984.1:p.Asp942Glu, XP_047305990.1:p.Asp857Glu, XP_047305990.1:p.Asp857Glu, XP_047305989.1:p.Asp857Glu, XP_047305989.1:p.Asp857Glu, XP_047305985.1:p.Asp1002Glu, XP_047305985.1:p.Asp1002Glu, XP_047305987.1:p.Asp991Glu, XP_047305987.1:p.Asp991Glu, XP_047305986.1:p.Asp991Glu, XP_047305986.1:p.Asp991Glu, XP_047305988.1:p.Asp912Glu, XP_047305988.1:p.Asp912Glu, XP_047305991.1:p.Asp857Glu, XP_047305991.1:p.Asp857Glu

                              15.

                              rs1478096287 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                4:877780 (GRCh38)
                                4:871568 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:877779:G:A
                                Gene:
                                GAK (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.877780G>A, NC_000004.11:g.871568G>A, NM_005255.4:c.1691C>T, NM_005255.3:c.1691C>T, NM_005255.2:c.1691C>T, XM_011513429.3:c.1505C>T, XM_011513429.2:c.1505C>T, XM_011513429.1:c.1505C>T, XM_011513425.3:c.1691C>T, XM_011513425.2:c.1691C>T, XM_011513425.1:c.1691C>T, XM_011513432.3:c.1427C>T, XM_011513432.2:c.1427C>T, XM_011513432.1:c.1427C>T, XM_011513426.3:c.1691C>T, XM_011513426.2:c.1691C>T, XM_011513426.1:c.1691C>T, XM_011513427.3:c.1601C>T, XM_011513427.2:c.1601C>T, XM_011513427.1:c.1601C>T, XM_011513428.3:c.1691C>T, XM_011513428.2:c.1691C>T, XM_011513428.1:c.1691C>T, XM_005272268.3:c.1691C>T, XM_005272268.2:c.1691C>T, XM_005272268.1:c.1691C>T, XM_011513434.3:c.1283C>T, XM_011513434.2:c.1283C>T, XM_011513434.1:c.1283C>T, XM_011513431.3:c.1691C>T, XM_011513431.2:c.1691C>T, XM_011513431.1:c.1691C>T, XM_005272270.3:c.1691C>T, XM_005272270.2:c.1691C>T, XM_005272270.1:c.1691C>T, XM_017007993.2:c.1283C>T, XM_017007993.1:c.1283C>T, XM_017007991.2:c.1601C>T, XM_017007991.1:c.1601C>T, XM_011513430.2:c.1454C>T, XM_011513430.1:c.1454C>T, XM_017007992.2:c.1364C>T, XM_017007992.1:c.1364C>T, NM_001318134.2:c.1454C>T, NM_001318134.1:c.1454C>T, XM_017007994.2:c.1691C>T, XM_017007994.1:c.1691C>T, XM_047450020.1:c.1505C>T, XM_047450008.1:c.1505C>T, XM_047450011.1:c.1505C>T, XM_047450016.1:c.1415C>T, XM_047450003.1:c.1427C>T, XM_047450002.1:c.1601C>T, XM_047450004.1:c.1454C>T, XM_047450005.1:c.1691C>T, XM_047450006.1:c.1691C>T, XM_047450007.1:c.1691C>T, XM_047450010.1:c.1601C>T, NM_001286833.1:c.1397C>T, XM_047450012.1:c.1601C>T, XM_047450013.1:c.1691C>T, XM_047450014.1:c.1691C>T, XM_047450015.1:c.1454C>T, XM_047450018.1:c.1691C>T, XM_047450019.1:c.1364C>T, XM_047450021.1:c.1454C>T, XM_047450022.1:c.1364C>T, XM_047450023.1:c.1691C>T, XM_047450024.1:c.1454C>T, XM_047450025.1:c.1454C>T, XM_047450026.1:c.1691C>T, XM_047450028.1:c.1454C>T, XM_047450034.1:c.1019C>T, XM_047450033.1:c.1019C>T, XM_047450029.1:c.1454C>T, XM_047450031.1:c.1454C>T, XM_047450030.1:c.1601C>T, XM_047450032.1:c.1364C>T, XM_047450035.1:c.1019C>T, NP_005246.2:p.Ala564Val, XP_011511731.1:p.Ala502Val, XP_011511727.1:p.Ala564Val, XP_011511734.1:p.Ala476Val, XP_011511728.1:p.Ala564Val, XP_011511729.1:p.Ala534Val, XP_011511730.1:p.Ala564Val, XP_005272325.1:p.Ala564Val, XP_011511736.1:p.Ala428Val, XP_011511733.1:p.Ala564Val, XP_005272327.1:p.Ala564Val, XP_016863482.1:p.Ala428Val, XP_016863480.1:p.Ala534Val, XP_011511732.1:p.Ala485Val, XP_016863481.1:p.Ala455Val, NP_001305063.1:p.Ala485Val, XP_016863483.1:p.Ala564Val, XP_047305976.1:p.Ala502Val, XP_047305964.1:p.Ala502Val, XP_047305967.1:p.Ala502Val, XP_047305972.1:p.Ala472Val, XP_047305959.1:p.Ala476Val, XP_047305958.1:p.Ala534Val, XP_047305960.1:p.Ala485Val, XP_047305961.1:p.Ala564Val, XP_047305962.1:p.Ala564Val, XP_047305963.1:p.Ala564Val, XP_047305966.1:p.Ala534Val, XP_047305968.1:p.Ala534Val, XP_047305969.1:p.Ala564Val, XP_047305970.1:p.Ala564Val, XP_047305971.1:p.Ala485Val, XP_047305974.1:p.Ala564Val, XP_047305975.1:p.Ala455Val, XP_047305977.1:p.Ala485Val, XP_047305978.1:p.Ala455Val, XP_047305979.1:p.Ala564Val, XP_047305980.1:p.Ala485Val, XP_047305981.1:p.Ala485Val, XP_047305982.1:p.Ala564Val, XP_047305984.1:p.Ala485Val, XP_047305990.1:p.Ala340Val, XP_047305989.1:p.Ala340Val, XP_047305985.1:p.Ala485Val, XP_047305987.1:p.Ala485Val, XP_047305986.1:p.Ala534Val, XP_047305988.1:p.Ala455Val, XP_047305991.1:p.Ala340Val

                                16.

                                rs1476700314 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  4:911840 (GRCh38)
                                  4:905628 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:911839:G:A
                                  Gene:
                                  GAK (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1476600970 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:850014 (GRCh38)
                                    4:843802 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:850013:G:A
                                    Gene:
                                    GAK (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000011/3 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000004.12:g.850014G>A, NC_000004.11:g.843802G>A, NM_005255.4:c.3712C>T, NM_005255.3:c.3712C>T, NM_005255.2:c.3712C>T, XM_011513429.3:c.3658C>T, XM_011513429.2:c.3658C>T, XM_011513429.1:c.3658C>T, XM_011513425.3:c.3844C>T, XM_011513425.2:c.3844C>T, XM_011513425.1:c.3844C>T, XM_011513432.3:c.3580C>T, XM_011513432.2:c.3580C>T, XM_011513432.1:c.3580C>T, XM_011513426.3:c.3811C>T, XM_011513426.2:c.3811C>T, XM_011513426.1:c.3811C>T, XM_011513427.3:c.3754C>T, XM_011513427.2:c.3754C>T, XM_011513427.1:c.3754C>T, XM_011513428.3:c.3697C>T, XM_011513428.2:c.3697C>T, XM_011513428.1:c.3697C>T, XM_005272268.3:c.3679C>T, XM_005272268.2:c.3679C>T, XM_005272268.1:c.3679C>T, XM_011513434.3:c.3436C>T, XM_011513434.2:c.3436C>T, XM_011513434.1:c.3436C>T, XM_011513431.3:c.3595C>T, XM_011513431.2:c.3595C>T, XM_011513431.1:c.3595C>T, XM_005272270.3:c.3487C>T, XM_005272270.2:c.3487C>T, XM_005272270.1:c.3487C>T, XM_017007993.2:c.3436C>T, XM_017007993.1:c.3436C>T, XM_017007991.2:c.3622C>T, XM_017007991.1:c.3622C>T, XM_011513430.2:c.3607C>T, XM_011513430.1:c.3607C>T, XM_017007992.2:c.3517C>T, XM_017007992.1:c.3517C>T, NM_001318134.2:c.3475C>T, NM_001318134.1:c.3475C>T, XM_047450020.1:c.3379C>T, XM_047450008.1:c.3526C>T, XM_047450011.1:c.3493C>T, XM_047450016.1:c.3436C>T, XM_047450003.1:c.3580C>T, XM_047450002.1:c.3589C>T, XM_047450004.1:c.3574C>T, XM_047450005.1:c.3565C>T, XM_047450006.1:c.3562C>T, XM_047450007.1:c.3532C>T, XM_047450010.1:c.3505C>T, NM_001286833.1:c.3418C>T, XM_047450012.1:c.3475C>T, XM_047450013.1:c.3454C>T, XM_047450014.1:c.3448C>T, XM_047450015.1:c.3442C>T, XM_047450018.1:c.3415C>T, XM_047450019.1:c.3385C>T, XM_047450021.1:c.3358C>T, XM_047450022.1:c.3352C>T, XM_047450023.1:c.3340C>T, XM_047450024.1:c.3328C>T, XM_047450025.1:c.3325C>T, XM_047450026.1:c.3307C>T, XM_047450028.1:c.3295C>T, XM_047450034.1:c.3172C>T, XM_047450033.1:c.3172C>T, XM_047450029.1:c.3250C>T, XM_047450031.1:c.3217C>T, XM_047450030.1:c.3217C>T, XM_047450032.1:c.3205C>T, XM_047450035.1:c.3040C>T

                                    18.

                                    rs1474854400 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CAGA>- [Show Flanks]
                                      Chromosome:
                                      4:870721 (GRCh38)
                                      4:864509 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:870717:AGACAGA:AGA
                                      Gene:
                                      GAK (Varview)
                                      Functional Consequence:
                                      frameshift_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.870721_870724del, NC_000004.11:g.864509_864512del, NM_005255.4:c.2238_2241del, NM_005255.3:c.2238_2241del, NM_005255.2:c.2238_2241del, XM_011513429.3:c.2052_2055del, XM_011513429.2:c.2052_2055del, XM_011513429.1:c.2052_2055del, XM_011513425.3:c.2238_2241del, XM_011513425.2:c.2238_2241del, XM_011513425.1:c.2238_2241del, XM_011513432.3:c.1974_1977del, XM_011513432.2:c.1974_1977del, XM_011513432.1:c.1974_1977del, XM_011513426.3:c.2238_2241del, XM_011513426.2:c.2238_2241del, XM_011513426.1:c.2238_2241del, XM_011513427.3:c.2148_2151del, XM_011513427.2:c.2148_2151del, XM_011513427.1:c.2148_2151del, XM_011513428.3:c.2238_2241del, XM_011513428.2:c.2238_2241del, XM_011513428.1:c.2238_2241del, XM_005272268.3:c.2238_2241del, XM_005272268.2:c.2238_2241del, XM_005272268.1:c.2238_2241del, XM_011513434.3:c.1830_1833del, XM_011513434.2:c.1830_1833del, XM_011513434.1:c.1830_1833del, XM_011513431.3:c.2238_2241del, XM_011513431.2:c.2238_2241del, XM_011513431.1:c.2238_2241del, XM_005272270.3:c.2238_2241del, XM_005272270.2:c.2238_2241del, XM_005272270.1:c.2238_2241del, XM_017007993.2:c.1830_1833del, XM_017007993.1:c.1830_1833del, XM_017007991.2:c.2148_2151del, XM_017007991.1:c.2148_2151del, XM_011513430.2:c.2001_2004del, XM_011513430.1:c.2001_2004del, XM_017007992.2:c.1911_1914del, XM_017007992.1:c.1911_1914del, NM_001318134.2:c.2001_2004del, NM_001318134.1:c.2001_2004del, XM_017007994.2:c.2238_2241del, XM_017007994.1:c.2238_2241del, XM_047450020.1:c.2052_2055del, XM_047450008.1:c.2052_2055del, XM_047450011.1:c.2052_2055del, XM_047450016.1:c.1962_1965del, XM_047450003.1:c.1974_1977del, XM_047450002.1:c.2148_2151del, XM_047450004.1:c.2001_2004del, XM_047450005.1:c.2238_2241del, XM_047450006.1:c.2238_2241del, XM_047450007.1:c.2238_2241del, XM_047450010.1:c.2148_2151del, NM_001286833.1:c.1944_1947del, XM_047450012.1:c.2148_2151del, XM_047450013.1:c.2238_2241del, XM_047450014.1:c.2238_2241del, XM_047450015.1:c.2001_2004del, XM_047450018.1:c.2238_2241del, XM_047450019.1:c.1911_1914del, XM_047450021.1:c.2001_2004del, XM_047450022.1:c.1911_1914del, XM_047450023.1:c.2238_2241del, XM_047450024.1:c.2001_2004del, XM_047450025.1:c.2001_2004del, XM_047450026.1:c.2238_2241del, XM_047450028.1:c.2001_2004del, XM_047450034.1:c.1566_1569del, XM_047450033.1:c.1566_1569del, XM_047450029.1:c.2001_2004del, XM_047450031.1:c.2001_2004del, XM_047450030.1:c.2148_2151del, XM_047450032.1:c.1911_1914del, XM_047450035.1:c.1566_1569del, NP_005246.2:p.Lys748fs, XP_011511731.1:p.Lys686fs, XP_011511727.1:p.Lys748fs, XP_011511734.1:p.Lys660fs, XP_011511728.1:p.Lys748fs, XP_011511729.1:p.Lys718fs, XP_011511730.1:p.Lys748fs, XP_005272325.1:p.Lys748fs, XP_011511736.1:p.Lys612fs, XP_011511733.1:p.Lys748fs, XP_005272327.1:p.Lys748fs, XP_016863482.1:p.Lys612fs, XP_016863480.1:p.Lys718fs, XP_011511732.1:p.Lys669fs, XP_016863481.1:p.Lys639fs, NP_001305063.1:p.Lys669fs, XP_016863483.1:p.Lys748fs, XP_047305976.1:p.Lys686fs, XP_047305964.1:p.Lys686fs, XP_047305967.1:p.Lys686fs, XP_047305972.1:p.Lys656fs, XP_047305959.1:p.Lys660fs, XP_047305958.1:p.Lys718fs, XP_047305960.1:p.Lys669fs, XP_047305961.1:p.Lys748fs, XP_047305962.1:p.Lys748fs, XP_047305963.1:p.Lys748fs, XP_047305966.1:p.Lys718fs, XP_047305968.1:p.Lys718fs, XP_047305969.1:p.Lys748fs, XP_047305970.1:p.Lys748fs, XP_047305971.1:p.Lys669fs, XP_047305974.1:p.Lys748fs, XP_047305975.1:p.Lys639fs, XP_047305977.1:p.Lys669fs, XP_047305978.1:p.Lys639fs, XP_047305979.1:p.Lys748fs, XP_047305980.1:p.Lys669fs, XP_047305981.1:p.Lys669fs, XP_047305982.1:p.Lys748fs, XP_047305984.1:p.Lys669fs, XP_047305990.1:p.Lys524fs, XP_047305989.1:p.Lys524fs, XP_047305985.1:p.Lys669fs, XP_047305987.1:p.Lys669fs, XP_047305986.1:p.Lys718fs, XP_047305988.1:p.Lys639fs, XP_047305991.1:p.Lys524fs

                                      19.

                                      rs1474198194 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        4:850031 (GRCh38)
                                        4:843819 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:850030:C:T
                                        Gene:
                                        GAK (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_downstream_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_000004.12:g.850031C>T, NC_000004.11:g.843819C>T, NM_005255.4:c.3695G>A, NM_005255.3:c.3695G>A, NM_005255.2:c.3695G>A, XM_011513429.3:c.3641G>A, XM_011513429.2:c.3641G>A, XM_011513429.1:c.3641G>A, XM_011513425.3:c.3827G>A, XM_011513425.2:c.3827G>A, XM_011513425.1:c.3827G>A, XM_011513432.3:c.3563G>A, XM_011513432.2:c.3563G>A, XM_011513432.1:c.3563G>A, XM_011513426.3:c.3794G>A, XM_011513426.2:c.3794G>A, XM_011513426.1:c.3794G>A, XM_011513427.3:c.3737G>A, XM_011513427.2:c.3737G>A, XM_011513427.1:c.3737G>A, XM_011513428.3:c.3680G>A, XM_011513428.2:c.3680G>A, XM_011513428.1:c.3680G>A, XM_005272268.3:c.3662G>A, XM_005272268.2:c.3662G>A, XM_005272268.1:c.3662G>A, XM_011513434.3:c.3419G>A, XM_011513434.2:c.3419G>A, XM_011513434.1:c.3419G>A, XM_011513431.3:c.3578G>A, XM_011513431.2:c.3578G>A, XM_011513431.1:c.3578G>A, XM_005272270.3:c.3470G>A, XM_005272270.2:c.3470G>A, XM_005272270.1:c.3470G>A, XM_017007993.2:c.3419G>A, XM_017007993.1:c.3419G>A, XM_017007991.2:c.3605G>A, XM_017007991.1:c.3605G>A, XM_011513430.2:c.3590G>A, XM_011513430.1:c.3590G>A, XM_017007992.2:c.3500G>A, XM_017007992.1:c.3500G>A, NM_001318134.2:c.3458G>A, NM_001318134.1:c.3458G>A, XM_047450020.1:c.3362G>A, XM_047450008.1:c.3509G>A, XM_047450011.1:c.3476G>A, XM_047450016.1:c.3419G>A, XM_047450003.1:c.3563G>A, XM_047450002.1:c.3572G>A, XM_047450004.1:c.3557G>A, XM_047450005.1:c.3548G>A, XM_047450006.1:c.3545G>A, XM_047450007.1:c.3515G>A, XM_047450010.1:c.3488G>A, NM_001286833.1:c.3401G>A, XM_047450012.1:c.3458G>A, XM_047450013.1:c.3437G>A, XM_047450014.1:c.3431G>A, XM_047450015.1:c.3425G>A, XM_047450018.1:c.3398G>A, XM_047450019.1:c.3368G>A, XM_047450021.1:c.3341G>A, XM_047450022.1:c.3335G>A, XM_047450023.1:c.3323G>A, XM_047450024.1:c.3311G>A, XM_047450025.1:c.3308G>A, XM_047450026.1:c.3290G>A, XM_047450028.1:c.3278G>A, XM_047450034.1:c.3155G>A, XM_047450033.1:c.3155G>A, XM_047450029.1:c.3233G>A, XM_047450031.1:c.3200G>A, XM_047450030.1:c.3200G>A, XM_047450032.1:c.3188G>A, XM_047450035.1:c.3023G>A, NP_005246.2:p.Arg1232Gln, XP_011511731.1:p.Arg1214Gln, XP_011511727.1:p.Arg1276Gln, XP_011511734.1:p.Arg1188Gln, XP_011511728.1:p.Arg1265Gln, XP_011511729.1:p.Arg1246Gln, XP_011511730.1:p.Arg1227Gln, XP_005272325.1:p.Arg1221Gln, XP_011511736.1:p.Arg1140Gln, XP_011511733.1:p.Arg1193Gln, XP_005272327.1:p.Arg1157Gln, XP_016863482.1:p.Arg1140Gln, XP_016863480.1:p.Arg1202Gln, XP_011511732.1:p.Arg1197Gln, XP_016863481.1:p.Arg1167Gln, NP_001305063.1:p.Arg1153Gln, XP_047305976.1:p.Arg1121Gln, XP_047305964.1:p.Arg1170Gln, XP_047305967.1:p.Arg1159Gln, XP_047305972.1:p.Arg1140Gln, XP_047305959.1:p.Arg1188Gln, XP_047305958.1:p.Arg1191Gln, XP_047305960.1:p.Arg1186Gln, XP_047305961.1:p.Arg1183Gln, XP_047305962.1:p.Arg1182Gln, XP_047305963.1:p.Arg1172Gln, XP_047305966.1:p.Arg1163Gln, XP_047305968.1:p.Arg1153Gln, XP_047305969.1:p.Arg1146Gln, XP_047305970.1:p.Arg1144Gln, XP_047305971.1:p.Arg1142Gln, XP_047305974.1:p.Arg1133Gln, XP_047305975.1:p.Arg1123Gln, XP_047305977.1:p.Arg1114Gln, XP_047305978.1:p.Arg1112Gln, XP_047305979.1:p.Arg1108Gln, XP_047305980.1:p.Arg1104Gln, XP_047305981.1:p.Arg1103Gln, XP_047305982.1:p.Arg1097Gln, XP_047305984.1:p.Arg1093Gln, XP_047305990.1:p.Arg1052Gln, XP_047305989.1:p.Arg1052Gln, XP_047305985.1:p.Arg1078Gln, XP_047305987.1:p.Arg1067Gln, XP_047305986.1:p.Arg1067Gln, XP_047305988.1:p.Arg1063Gln, XP_047305991.1:p.Arg1008Gln

                                        20.

                                        rs1473742113 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G [Show Flanks]
                                          Chromosome:
                                          4:849934 (GRCh38)
                                          4:843722 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:849933:C:G
                                          Gene:
                                          GAK (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000004.12:g.849934C>G, NC_000004.11:g.843722C>G, NM_005255.4:c.3792G>C, NM_005255.3:c.3792G>C, NM_005255.2:c.3792G>C, XM_011513429.3:c.3738G>C, XM_011513429.2:c.3738G>C, XM_011513429.1:c.3738G>C, XM_011513425.3:c.3924G>C, XM_011513425.2:c.3924G>C, XM_011513425.1:c.3924G>C, XM_011513432.3:c.3660G>C, XM_011513432.2:c.3660G>C, XM_011513432.1:c.3660G>C, XM_011513426.3:c.3891G>C, XM_011513426.2:c.3891G>C, XM_011513426.1:c.3891G>C, XM_011513427.3:c.3834G>C, XM_011513427.2:c.3834G>C, XM_011513427.1:c.3834G>C, XM_011513428.3:c.3777G>C, XM_011513428.2:c.3777G>C, XM_011513428.1:c.3777G>C, XM_005272268.3:c.3759G>C, XM_005272268.2:c.3759G>C, XM_005272268.1:c.3759G>C, XM_011513434.3:c.3516G>C, XM_011513434.2:c.3516G>C, XM_011513434.1:c.3516G>C, XM_011513431.3:c.3675G>C, XM_011513431.2:c.3675G>C, XM_011513431.1:c.3675G>C, XM_005272270.3:c.3567G>C, XM_005272270.2:c.3567G>C, XM_005272270.1:c.3567G>C, XM_017007993.2:c.3516G>C, XM_017007993.1:c.3516G>C, XM_017007991.2:c.3702G>C, XM_017007991.1:c.3702G>C, XM_011513430.2:c.3687G>C, XM_011513430.1:c.3687G>C, XM_017007992.2:c.3597G>C, XM_017007992.1:c.3597G>C, NM_001318134.2:c.3555G>C, NM_001318134.1:c.3555G>C, XM_047450020.1:c.3459G>C, XM_047450008.1:c.3606G>C, XM_047450011.1:c.3573G>C, XM_047450016.1:c.3516G>C, XM_047450003.1:c.3660G>C, XM_047450002.1:c.3669G>C, XM_047450004.1:c.3654G>C, XM_047450005.1:c.3645G>C, XM_047450006.1:c.3642G>C, XM_047450007.1:c.3612G>C, XM_047450010.1:c.3585G>C, NM_001286833.1:c.3498G>C, XM_047450012.1:c.3555G>C, XM_047450013.1:c.3534G>C, XM_047450014.1:c.3528G>C, XM_047450015.1:c.3522G>C, XM_047450018.1:c.3495G>C, XM_047450019.1:c.3465G>C, XM_047450021.1:c.3438G>C, XM_047450022.1:c.3432G>C, XM_047450023.1:c.3420G>C, XM_047450024.1:c.3408G>C, XM_047450025.1:c.3405G>C, XM_047450026.1:c.3387G>C, XM_047450028.1:c.3375G>C, XM_047450034.1:c.3252G>C, XM_047450033.1:c.3252G>C, XM_047450029.1:c.3330G>C, XM_047450031.1:c.3297G>C, XM_047450030.1:c.3297G>C, XM_047450032.1:c.3285G>C, XM_047450035.1:c.3120G>C, NP_005246.2:p.Lys1264Asn, XP_011511731.1:p.Lys1246Asn, XP_011511727.1:p.Lys1308Asn, XP_011511734.1:p.Lys1220Asn, XP_011511728.1:p.Lys1297Asn, XP_011511729.1:p.Lys1278Asn, XP_011511730.1:p.Lys1259Asn, XP_005272325.1:p.Lys1253Asn, XP_011511736.1:p.Lys1172Asn, XP_011511733.1:p.Lys1225Asn, XP_005272327.1:p.Lys1189Asn, XP_016863482.1:p.Lys1172Asn, XP_016863480.1:p.Lys1234Asn, XP_011511732.1:p.Lys1229Asn, XP_016863481.1:p.Lys1199Asn, NP_001305063.1:p.Lys1185Asn, XP_047305976.1:p.Lys1153Asn, XP_047305964.1:p.Lys1202Asn, XP_047305967.1:p.Lys1191Asn, XP_047305972.1:p.Lys1172Asn, XP_047305959.1:p.Lys1220Asn, XP_047305958.1:p.Lys1223Asn, XP_047305960.1:p.Lys1218Asn, XP_047305961.1:p.Lys1215Asn, XP_047305962.1:p.Lys1214Asn, XP_047305963.1:p.Lys1204Asn, XP_047305966.1:p.Lys1195Asn, XP_047305968.1:p.Lys1185Asn, XP_047305969.1:p.Lys1178Asn, XP_047305970.1:p.Lys1176Asn, XP_047305971.1:p.Lys1174Asn, XP_047305974.1:p.Lys1165Asn, XP_047305975.1:p.Lys1155Asn, XP_047305977.1:p.Lys1146Asn, XP_047305978.1:p.Lys1144Asn, XP_047305979.1:p.Lys1140Asn, XP_047305980.1:p.Lys1136Asn, XP_047305981.1:p.Lys1135Asn, XP_047305982.1:p.Lys1129Asn, XP_047305984.1:p.Lys1125Asn, XP_047305990.1:p.Lys1084Asn, XP_047305989.1:p.Lys1084Asn, XP_047305985.1:p.Lys1110Asn, XP_047305987.1:p.Lys1099Asn, XP_047305986.1:p.Lys1099Asn, XP_047305988.1:p.Lys1095Asn, XP_047305991.1:p.Lys1040Asn

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