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Items: 1 to 20 of 1269

1.

rs1488748121 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    17:4891607 (GRCh38)
    17:4794902 (GRCh37)
    Canonical SPDI:
    NC_000017.11:4891606:G:T
    Gene:
    MINK1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:
    NC_000017.11:g.4891607G>T, NC_000017.10:g.4794902G>T, NG_028005.1:g.63268G>T, NM_153827.5:c.1892G>T, NM_153827.4:c.1892G>T, NM_170663.5:c.1892G>T, NM_170663.4:c.1892G>T, NM_015716.5:c.1892G>T, NM_015716.4:c.1892G>T, NM_001024937.4:c.1832G>T, NM_001024937.3:c.1832G>T, NM_001321236.2:c.1727G>T, NM_001321236.1:c.1727G>T, XM_017024707.3:c.1814G>T, XM_017024707.2:c.1814G>T, XM_017024707.1:c.1814G>T, XM_006721531.2:c.1979G>T, XM_006721531.1:c.1979G>T, XM_006721532.2:c.1979G>T, XM_006721532.1:c.1979G>T, XM_017024708.2:c.1766G>T, XM_017024708.1:c.1766G>T, XM_006721536.2:c.1979G>T, XM_006721536.1:c.1979G>T, XM_017024704.1:c.1970G>T, XM_047436165.1:c.1970G>T, XM_017024705.1:c.1919G>T, XM_047436166.1:c.1919G>T, XM_047436167.1:c.1910G>T, XM_047436168.1:c.1892G>T, XM_011523906.1:c.1883G>T, XM_047436169.1:c.1883G>T, XM_017024706.1:c.1979G>T, XM_047436170.1:c.1832G>T, XM_047436171.1:c.1823G>T, XM_047436172.1:c.1823G>T, XM_047436173.1:c.1892G>T, XM_047436174.1:c.1883G>T, XM_047436175.1:c.1883G>T, XM_047436176.1:c.1832G>T, XM_047436177.1:c.1832G>T, XM_047436178.1:c.1823G>T, XM_047436179.1:c.1979G>T, NP_722549.2:p.Ser631Ile, NP_733763.1:p.Ser631Ile, NP_056531.1:p.Ser631Ile, NP_001020108.1:p.Ser611Ile, NP_001308165.1:p.Ser576Ile, XP_016880196.1:p.Ser605Ile, XP_006721594.1:p.Ser660Ile, XP_006721595.1:p.Ser660Ile, XP_016880197.1:p.Ser589Ile, XP_006721599.1:p.Ser660Ile, XP_016880193.1:p.Ser657Ile, XP_047292121.1:p.Ser657Ile, XP_016880194.1:p.Ser640Ile, XP_047292122.1:p.Ser640Ile, XP_047292123.1:p.Ser637Ile, XP_047292124.1:p.Ser631Ile, XP_011522208.1:p.Ser628Ile, XP_047292125.1:p.Ser628Ile, XP_016880195.1:p.Ser660Ile, XP_047292126.1:p.Ser611Ile, XP_047292127.1:p.Ser608Ile, XP_047292128.1:p.Ser608Ile, XP_047292129.1:p.Ser631Ile, XP_047292130.1:p.Ser628Ile, XP_047292131.1:p.Ser628Ile, XP_047292132.1:p.Ser611Ile, XP_047292133.1:p.Ser611Ile, XP_047292134.1:p.Ser608Ile, XP_047292135.1:p.Ser660Ile

    2.

    rs1488259249 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:4889681 (GRCh38)
      17:4792976 (GRCh37)
      Canonical SPDI:
      NC_000017.11:4889680:A:G
      Gene:
      MINK1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000006/1 (GnomAD_exomes)
      A=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000017.11:g.4889681A>G, NC_000017.10:g.4792976A>G, NG_028005.1:g.61342A>G, NM_153827.5:c.1265A>G, NM_153827.4:c.1265A>G, NM_170663.5:c.1265A>G, NM_170663.4:c.1265A>G, NM_015716.5:c.1265A>G, NM_015716.4:c.1265A>G, NM_001024937.4:c.1265A>G, NM_001024937.3:c.1265A>G, NM_001321236.2:c.1100A>G, NM_001321236.1:c.1100A>G, XM_017024707.3:c.1100A>G, XM_017024707.2:c.1100A>G, XM_017024707.1:c.1100A>G, XM_006721531.2:c.1265A>G, XM_006721531.1:c.1265A>G, XM_006721532.2:c.1265A>G, XM_006721532.1:c.1265A>G, XM_017024708.2:c.1052A>G, XM_017024708.1:c.1052A>G, XM_006721536.2:c.1265A>G, XM_006721536.1:c.1265A>G, XM_017024704.1:c.1256A>G, XM_047436165.1:c.1256A>G, XM_017024705.1:c.1265A>G, XM_047436166.1:c.1265A>G, XM_047436167.1:c.1256A>G, XM_047436168.1:c.1265A>G, XM_011523906.1:c.1256A>G, XM_047436169.1:c.1256A>G, XM_017024706.1:c.1265A>G, XM_047436170.1:c.1265A>G, XM_047436171.1:c.1256A>G, XM_047436172.1:c.1256A>G, XM_047436173.1:c.1265A>G, XM_047436174.1:c.1256A>G, XM_047436175.1:c.1256A>G, XM_047436176.1:c.1265A>G, XM_047436177.1:c.1265A>G, XM_047436178.1:c.1256A>G, XM_047436179.1:c.1265A>G, NP_722549.2:p.Gln422Arg, NP_733763.1:p.Gln422Arg, NP_056531.1:p.Gln422Arg, NP_001020108.1:p.Gln422Arg, NP_001308165.1:p.Gln367Arg, XP_016880196.1:p.Gln367Arg, XP_006721594.1:p.Gln422Arg, XP_006721595.1:p.Gln422Arg, XP_016880197.1:p.Gln351Arg, XP_006721599.1:p.Gln422Arg, XP_016880193.1:p.Gln419Arg, XP_047292121.1:p.Gln419Arg, XP_016880194.1:p.Gln422Arg, XP_047292122.1:p.Gln422Arg, XP_047292123.1:p.Gln419Arg, XP_047292124.1:p.Gln422Arg, XP_011522208.1:p.Gln419Arg, XP_047292125.1:p.Gln419Arg, XP_016880195.1:p.Gln422Arg, XP_047292126.1:p.Gln422Arg, XP_047292127.1:p.Gln419Arg, XP_047292128.1:p.Gln419Arg, XP_047292129.1:p.Gln422Arg, XP_047292130.1:p.Gln419Arg, XP_047292131.1:p.Gln419Arg, XP_047292132.1:p.Gln422Arg, XP_047292133.1:p.Gln422Arg, XP_047292134.1:p.Gln419Arg, XP_047292135.1:p.Gln422Arg

      3.

      rs1488166370 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:4894064 (GRCh38)
        17:4797359 (GRCh37)
        Canonical SPDI:
        NC_000017.11:4894063:T:C
        Gene:
        MINK1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        C=0.000007/1 (GnomAD)
        HGVS:
        NC_000017.11:g.4894064T>C, NC_000017.10:g.4797359T>C, NG_028005.1:g.65725T>C, NM_153827.5:c.2641T>C, NM_153827.4:c.2641T>C, NM_170663.5:c.2554T>C, NM_170663.4:c.2554T>C, NM_015716.5:c.2530T>C, NM_015716.4:c.2530T>C, NM_001024937.4:c.2581T>C, NM_001024937.3:c.2581T>C, NM_001321236.2:c.2365T>C, NM_001321236.1:c.2365T>C, XM_017024707.3:c.2563T>C, XM_017024707.2:c.2563T>C, XM_017024707.1:c.2563T>C, XM_006721531.2:c.2728T>C, XM_006721531.1:c.2728T>C, XM_006721532.2:c.2725T>C, XM_006721532.1:c.2725T>C, XM_017024708.2:c.2515T>C, XM_017024708.1:c.2515T>C, XM_006721536.2:c.2617T>C, XM_006721536.1:c.2617T>C, XM_017024704.1:c.2719T>C, XM_047436165.1:c.2716T>C, XM_017024705.1:c.2668T>C, XM_047436166.1:c.2665T>C, XM_047436167.1:c.2656T>C, XM_047436168.1:c.2638T>C, XM_011523906.1:c.2632T>C, XM_047436169.1:c.2629T>C, XM_017024706.1:c.2614T>C, XM_047436170.1:c.2578T>C, XM_047436171.1:c.2572T>C, XM_047436172.1:c.2569T>C, XM_047436173.1:c.2527T>C, XM_047436174.1:c.2521T>C, XM_047436175.1:c.2518T>C, XM_047436176.1:c.2470T>C, XM_047436177.1:c.2467T>C, XM_047436178.1:c.2461T>C, XM_047436179.1:c.2728T>C, NP_722549.2:p.Tyr881His, NP_733763.1:p.Tyr852His, NP_056531.1:p.Tyr844His, NP_001020108.1:p.Tyr861His, NP_001308165.1:p.Tyr789His, XP_016880196.1:p.Tyr855His, XP_006721594.1:p.Tyr910His, XP_006721595.1:p.Tyr909His, XP_016880197.1:p.Tyr839His, XP_006721599.1:p.Tyr873His, XP_016880193.1:p.Tyr907His, XP_047292121.1:p.Tyr906His, XP_016880194.1:p.Tyr890His, XP_047292122.1:p.Tyr889His, XP_047292123.1:p.Tyr886His, XP_047292124.1:p.Tyr880His, XP_011522208.1:p.Tyr878His, XP_047292125.1:p.Tyr877His, XP_016880195.1:p.Tyr872His, XP_047292126.1:p.Tyr860His, XP_047292127.1:p.Tyr858His, XP_047292128.1:p.Tyr857His, XP_047292129.1:p.Tyr843His, XP_047292130.1:p.Tyr841His, XP_047292131.1:p.Tyr840His, XP_047292132.1:p.Tyr824His, XP_047292133.1:p.Tyr823His, XP_047292134.1:p.Tyr821His, XP_047292135.1:p.Tyr910His

        4.

        rs1486846202 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          17:4896805 (GRCh38)
          17:4800100 (GRCh37)
          Canonical SPDI:
          NC_000017.11:4896804:A:C
          Gene:
          MINK1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000017.11:g.4896805A>C, NC_000017.10:g.4800100A>C, NG_008029.2:g.11271T>G, NG_028005.1:g.68466A>C, NM_153827.5:c.3907A>C, NM_153827.4:c.3907A>C, NM_170663.5:c.3820A>C, NM_170663.4:c.3820A>C, NM_015716.5:c.3796A>C, NM_015716.4:c.3796A>C, NM_001024937.4:c.3847A>C, NM_001024937.3:c.3847A>C, NM_001321236.2:c.3631A>C, NM_001321236.1:c.3631A>C, XM_017024707.3:c.3829A>C, XM_017024707.2:c.3829A>C, XM_017024707.1:c.3829A>C, XM_006721531.2:c.3994A>C, XM_006721531.1:c.3994A>C, XM_006721532.2:c.3991A>C, XM_006721532.1:c.3991A>C, XM_017024708.2:c.3781A>C, XM_017024708.1:c.3781A>C, XM_006721536.2:c.3883A>C, XM_006721536.1:c.3883A>C, XM_017024704.1:c.3985A>C, XM_047436165.1:c.3982A>C, XM_017024705.1:c.3934A>C, XM_047436166.1:c.3931A>C, XM_047436167.1:c.3922A>C, XM_047436168.1:c.3904A>C, XM_011523906.1:c.3898A>C, XM_047436169.1:c.3895A>C, XM_017024706.1:c.3880A>C, XM_047436170.1:c.3844A>C, XM_047436171.1:c.3838A>C, XM_047436172.1:c.3835A>C, XM_047436173.1:c.3793A>C, XM_047436174.1:c.3787A>C, XM_047436175.1:c.3784A>C, XM_047436176.1:c.3736A>C, XM_047436177.1:c.3733A>C, XM_047436178.1:c.3727A>C, NP_722549.2:p.Asn1303His, NP_733763.1:p.Asn1274His, NP_056531.1:p.Asn1266His, NP_001020108.1:p.Asn1283His, NP_001308165.1:p.Asn1211His, XP_016880196.1:p.Asn1277His, XP_006721594.1:p.Asn1332His, XP_006721595.1:p.Asn1331His, XP_016880197.1:p.Asn1261His, XP_006721599.1:p.Asn1295His, XP_016880193.1:p.Asn1329His, XP_047292121.1:p.Asn1328His, XP_016880194.1:p.Asn1312His, XP_047292122.1:p.Asn1311His, XP_047292123.1:p.Asn1308His, XP_047292124.1:p.Asn1302His, XP_011522208.1:p.Asn1300His, XP_047292125.1:p.Asn1299His, XP_016880195.1:p.Asn1294His, XP_047292126.1:p.Asn1282His, XP_047292127.1:p.Asn1280His, XP_047292128.1:p.Asn1279His, XP_047292129.1:p.Asn1265His, XP_047292130.1:p.Asn1263His, XP_047292131.1:p.Asn1262His, XP_047292132.1:p.Asn1246His, XP_047292133.1:p.Asn1245His, XP_047292134.1:p.Asn1243His

          5.

          rs1486725022 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:4893515 (GRCh38)
            17:4796810 (GRCh37)
            Canonical SPDI:
            NC_000017.11:4893514:G:A
            Gene:
            MINK1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.4893515G>A, NC_000017.10:g.4796810G>A, NG_028005.1:g.65176G>A, NM_153827.5:c.2482G>A, NM_153827.4:c.2482G>A, NM_170663.5:c.2395G>A, NM_170663.4:c.2395G>A, NM_015716.5:c.2371G>A, NM_015716.4:c.2371G>A, NM_001024937.4:c.2422G>A, NM_001024937.3:c.2422G>A, NM_001321236.2:c.2206G>A, NM_001321236.1:c.2206G>A, XM_017024707.3:c.2404G>A, XM_017024707.2:c.2404G>A, XM_017024707.1:c.2404G>A, XM_006721531.2:c.2569G>A, XM_006721531.1:c.2569G>A, XM_006721532.2:c.2569G>A, XM_006721532.1:c.2569G>A, XM_017024708.2:c.2356G>A, XM_017024708.1:c.2356G>A, XM_006721536.2:c.2458G>A, XM_006721536.1:c.2458G>A, XM_017024704.1:c.2560G>A, XM_047436165.1:c.2560G>A, XM_017024705.1:c.2509G>A, XM_047436166.1:c.2509G>A, XM_047436167.1:c.2500G>A, XM_047436168.1:c.2482G>A, XM_011523906.1:c.2473G>A, XM_047436169.1:c.2473G>A, XM_017024706.1:c.2458G>A, XM_047436170.1:c.2422G>A, XM_047436171.1:c.2413G>A, XM_047436172.1:c.2413G>A, XM_047436173.1:c.2371G>A, XM_047436174.1:c.2362G>A, XM_047436175.1:c.2362G>A, XM_047436176.1:c.2311G>A, XM_047436177.1:c.2311G>A, XM_047436178.1:c.2302G>A, XM_047436179.1:c.2569G>A, NP_722549.2:p.Glu828Lys, NP_733763.1:p.Glu799Lys, NP_056531.1:p.Glu791Lys, NP_001020108.1:p.Glu808Lys, NP_001308165.1:p.Glu736Lys, XP_016880196.1:p.Glu802Lys, XP_006721594.1:p.Glu857Lys, XP_006721595.1:p.Glu857Lys, XP_016880197.1:p.Glu786Lys, XP_006721599.1:p.Glu820Lys, XP_016880193.1:p.Glu854Lys, XP_047292121.1:p.Glu854Lys, XP_016880194.1:p.Glu837Lys, XP_047292122.1:p.Glu837Lys, XP_047292123.1:p.Glu834Lys, XP_047292124.1:p.Glu828Lys, XP_011522208.1:p.Glu825Lys, XP_047292125.1:p.Glu825Lys, XP_016880195.1:p.Glu820Lys, XP_047292126.1:p.Glu808Lys, XP_047292127.1:p.Glu805Lys, XP_047292128.1:p.Glu805Lys, XP_047292129.1:p.Glu791Lys, XP_047292130.1:p.Glu788Lys, XP_047292131.1:p.Glu788Lys, XP_047292132.1:p.Glu771Lys, XP_047292133.1:p.Glu771Lys, XP_047292134.1:p.Glu768Lys, XP_047292135.1:p.Glu857Lys

            6.

            rs1486600196 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              17:4891040 (GRCh38)
              17:4794335 (GRCh37)
              Canonical SPDI:
              NC_000017.11:4891039:C:A,NC_000017.11:4891039:C:G
              Gene:
              MINK1 (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by cluster
              HGVS:
              NC_000017.11:g.4891040C>A, NC_000017.11:g.4891040C>G, NC_000017.10:g.4794335C>A, NC_000017.10:g.4794335C>G, NG_028005.1:g.62701C>A, NG_028005.1:g.62701C>G, NM_153827.5:c.1656C>A, NM_153827.5:c.1656C>G, NM_153827.4:c.1656C>A, NM_153827.4:c.1656C>G, NM_170663.5:c.1656C>A, NM_170663.5:c.1656C>G, NM_170663.4:c.1656C>A, NM_170663.4:c.1656C>G, NM_015716.5:c.1656C>A, NM_015716.5:c.1656C>G, NM_015716.4:c.1656C>A, NM_015716.4:c.1656C>G, NM_001024937.4:c.1656C>A, NM_001024937.4:c.1656C>G, NM_001024937.3:c.1656C>A, NM_001024937.3:c.1656C>G, NM_001321236.2:c.1491C>A, NM_001321236.2:c.1491C>G, NM_001321236.1:c.1491C>A, NM_001321236.1:c.1491C>G, XM_017024707.3:c.1578C>A, XM_017024707.3:c.1578C>G, XM_017024707.2:c.1578C>A, XM_017024707.2:c.1578C>G, XM_017024707.1:c.1578C>A, XM_017024707.1:c.1578C>G, XM_006721531.2:c.1743C>A, XM_006721531.2:c.1743C>G, XM_006721531.1:c.1743C>A, XM_006721531.1:c.1743C>G, XM_006721532.2:c.1743C>A, XM_006721532.2:c.1743C>G, XM_006721532.1:c.1743C>A, XM_006721532.1:c.1743C>G, XM_017024708.2:c.1530C>A, XM_017024708.2:c.1530C>G, XM_017024708.1:c.1530C>A, XM_017024708.1:c.1530C>G, XM_006721536.2:c.1743C>A, XM_006721536.2:c.1743C>G, XM_006721536.1:c.1743C>A, XM_006721536.1:c.1743C>G, XM_017024704.1:c.1734C>A, XM_017024704.1:c.1734C>G, XM_047436165.1:c.1734C>A, XM_047436165.1:c.1734C>G, XM_017024705.1:c.1743C>A, XM_017024705.1:c.1743C>G, XM_047436166.1:c.1743C>A, XM_047436166.1:c.1743C>G, XM_047436167.1:c.1734C>A, XM_047436167.1:c.1734C>G, XM_047436168.1:c.1656C>A, XM_047436168.1:c.1656C>G, XM_011523906.1:c.1647C>A, XM_011523906.1:c.1647C>G, XM_047436169.1:c.1647C>A, XM_047436169.1:c.1647C>G, XM_017024706.1:c.1743C>A, XM_017024706.1:c.1743C>G, XM_047436170.1:c.1656C>A, XM_047436170.1:c.1656C>G, XM_047436171.1:c.1647C>A, XM_047436171.1:c.1647C>G, XM_047436172.1:c.1647C>A, XM_047436172.1:c.1647C>G, XM_047436173.1:c.1656C>A, XM_047436173.1:c.1656C>G, XM_047436174.1:c.1647C>A, XM_047436174.1:c.1647C>G, XM_047436175.1:c.1647C>A, XM_047436175.1:c.1647C>G, XM_047436176.1:c.1656C>A, XM_047436176.1:c.1656C>G, XM_047436177.1:c.1656C>A, XM_047436177.1:c.1656C>G, XM_047436178.1:c.1647C>A, XM_047436178.1:c.1647C>G, XM_047436179.1:c.1743C>A, XM_047436179.1:c.1743C>G

              7.

              rs1486276261 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                17:4894175 (GRCh38)
                17:4797470 (GRCh37)
                Canonical SPDI:
                NC_000017.11:4894174:C:A
                Gene:
                MINK1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_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_000017.11:g.4894175C>A, NC_000017.10:g.4797470C>A, NG_028005.1:g.65836C>A, NM_153827.5:c.2672C>A, NM_153827.4:c.2672C>A, NM_170663.5:c.2585C>A, NM_170663.4:c.2585C>A, NM_015716.5:c.2561C>A, NM_015716.4:c.2561C>A, NM_001024937.4:c.2612C>A, NM_001024937.3:c.2612C>A, NM_001321236.2:c.2396C>A, NM_001321236.1:c.2396C>A, XM_017024707.3:c.2594C>A, XM_017024707.2:c.2594C>A, XM_017024707.1:c.2594C>A, XM_006721531.2:c.2759C>A, XM_006721531.1:c.2759C>A, XM_006721532.2:c.2756C>A, XM_006721532.1:c.2756C>A, XM_017024708.2:c.2546C>A, XM_017024708.1:c.2546C>A, XM_006721536.2:c.2648C>A, XM_006721536.1:c.2648C>A, XM_017024704.1:c.2750C>A, XM_047436165.1:c.2747C>A, XM_017024705.1:c.2699C>A, XM_047436166.1:c.2696C>A, XM_047436167.1:c.2687C>A, XM_047436168.1:c.2669C>A, XM_011523906.1:c.2663C>A, XM_047436169.1:c.2660C>A, XM_017024706.1:c.2645C>A, XM_047436170.1:c.2609C>A, XM_047436171.1:c.2603C>A, XM_047436172.1:c.2600C>A, XM_047436173.1:c.2558C>A, XM_047436174.1:c.2552C>A, XM_047436175.1:c.2549C>A, XM_047436176.1:c.2501C>A, XM_047436177.1:c.2498C>A, XM_047436178.1:c.2492C>A, XM_047436179.1:c.2759C>A, NP_722549.2:p.Thr891Asn, NP_733763.1:p.Thr862Asn, NP_056531.1:p.Thr854Asn, NP_001020108.1:p.Thr871Asn, NP_001308165.1:p.Thr799Asn, XP_016880196.1:p.Thr865Asn, XP_006721594.1:p.Thr920Asn, XP_006721595.1:p.Thr919Asn, XP_016880197.1:p.Thr849Asn, XP_006721599.1:p.Thr883Asn, XP_016880193.1:p.Thr917Asn, XP_047292121.1:p.Thr916Asn, XP_016880194.1:p.Thr900Asn, XP_047292122.1:p.Thr899Asn, XP_047292123.1:p.Thr896Asn, XP_047292124.1:p.Thr890Asn, XP_011522208.1:p.Thr888Asn, XP_047292125.1:p.Thr887Asn, XP_016880195.1:p.Thr882Asn, XP_047292126.1:p.Thr870Asn, XP_047292127.1:p.Thr868Asn, XP_047292128.1:p.Thr867Asn, XP_047292129.1:p.Thr853Asn, XP_047292130.1:p.Thr851Asn, XP_047292131.1:p.Thr850Asn, XP_047292132.1:p.Thr834Asn, XP_047292133.1:p.Thr833Asn, XP_047292134.1:p.Thr831Asn, XP_047292135.1:p.Thr920Asn

                8.

                rs1486192835 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  17:4896304 (GRCh38)
                  17:4799599 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:4896303:G:A
                  Gene:
                  MINK1 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000017.11:g.4896304G>A, NC_000017.10:g.4799599G>A, NG_008029.2:g.11772C>T, NG_028005.1:g.67965G>A, NM_153827.5:c.3577G>A, NM_153827.4:c.3577G>A, NM_170663.5:c.3490G>A, NM_170663.4:c.3490G>A, NM_015716.5:c.3466G>A, NM_015716.4:c.3466G>A, NM_001024937.4:c.3517G>A, NM_001024937.3:c.3517G>A, NM_001321236.2:c.3301G>A, NM_001321236.1:c.3301G>A, XM_017024707.3:c.3499G>A, XM_017024707.2:c.3499G>A, XM_017024707.1:c.3499G>A, XM_006721531.2:c.3664G>A, XM_006721531.1:c.3664G>A, XM_006721532.2:c.3661G>A, XM_006721532.1:c.3661G>A, XM_017024708.2:c.3451G>A, XM_017024708.1:c.3451G>A, XM_006721536.2:c.3553G>A, XM_006721536.1:c.3553G>A, XM_017024704.1:c.3655G>A, XM_047436165.1:c.3652G>A, XM_017024705.1:c.3604G>A, XM_047436166.1:c.3601G>A, XM_047436167.1:c.3592G>A, XM_047436168.1:c.3574G>A, XM_011523906.1:c.3568G>A, XM_047436169.1:c.3565G>A, XM_017024706.1:c.3550G>A, XM_047436170.1:c.3514G>A, XM_047436171.1:c.3508G>A, XM_047436172.1:c.3505G>A, XM_047436173.1:c.3463G>A, XM_047436174.1:c.3457G>A, XM_047436175.1:c.3454G>A, XM_047436176.1:c.3406G>A, XM_047436177.1:c.3403G>A, XM_047436178.1:c.3397G>A, NP_722549.2:p.Asp1193Asn, NP_733763.1:p.Asp1164Asn, NP_056531.1:p.Asp1156Asn, NP_001020108.1:p.Asp1173Asn, NP_001308165.1:p.Asp1101Asn, XP_016880196.1:p.Asp1167Asn, XP_006721594.1:p.Asp1222Asn, XP_006721595.1:p.Asp1221Asn, XP_016880197.1:p.Asp1151Asn, XP_006721599.1:p.Asp1185Asn, XP_016880193.1:p.Asp1219Asn, XP_047292121.1:p.Asp1218Asn, XP_016880194.1:p.Asp1202Asn, XP_047292122.1:p.Asp1201Asn, XP_047292123.1:p.Asp1198Asn, XP_047292124.1:p.Asp1192Asn, XP_011522208.1:p.Asp1190Asn, XP_047292125.1:p.Asp1189Asn, XP_016880195.1:p.Asp1184Asn, XP_047292126.1:p.Asp1172Asn, XP_047292127.1:p.Asp1170Asn, XP_047292128.1:p.Asp1169Asn, XP_047292129.1:p.Asp1155Asn, XP_047292130.1:p.Asp1153Asn, XP_047292131.1:p.Asp1152Asn, XP_047292132.1:p.Asp1136Asn, XP_047292133.1:p.Asp1135Asn, XP_047292134.1:p.Asp1133Asn

                  9.

                  rs1485230126 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:4895750 (GRCh38)
                    17:4799045 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:4895749:T:C
                    Gene:
                    MINK1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.4895750T>C, NC_000017.10:g.4799045T>C, NG_028005.1:g.67411T>C, NM_153827.5:c.3282T>C, NM_153827.4:c.3282T>C, NM_170663.5:c.3195T>C, NM_170663.4:c.3195T>C, NM_015716.5:c.3171T>C, NM_015716.4:c.3171T>C, NM_001024937.4:c.3222T>C, NM_001024937.3:c.3222T>C, NM_001321236.2:c.3006T>C, NM_001321236.1:c.3006T>C, XM_017024707.3:c.3204T>C, XM_017024707.2:c.3204T>C, XM_017024707.1:c.3204T>C, XM_006721531.2:c.3369T>C, XM_006721531.1:c.3369T>C, XM_006721532.2:c.3366T>C, XM_006721532.1:c.3366T>C, XM_017024708.2:c.3156T>C, XM_017024708.1:c.3156T>C, XM_006721536.2:c.3258T>C, XM_006721536.1:c.3258T>C, XM_017024704.1:c.3360T>C, XM_047436165.1:c.3357T>C, XM_017024705.1:c.3309T>C, XM_047436166.1:c.3306T>C, XM_047436167.1:c.3297T>C, XM_047436168.1:c.3279T>C, XM_011523906.1:c.3273T>C, XM_047436169.1:c.3270T>C, XM_017024706.1:c.3255T>C, XM_047436170.1:c.3219T>C, XM_047436171.1:c.3213T>C, XM_047436172.1:c.3210T>C, XM_047436173.1:c.3168T>C, XM_047436174.1:c.3162T>C, XM_047436175.1:c.3159T>C, XM_047436176.1:c.3111T>C, XM_047436177.1:c.3108T>C, XM_047436178.1:c.3102T>C

                    10.

                    rs1484641522 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->AGGTCATGGATGTCACGGAGGTA [Show Flanks]
                      Chromosome:
                      17:4881019 (GRCh38)
                      17:4784315 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:4881019:AAGGTCATGGATGTCACGGAGGTA:AAGGTCATGGATGTCACGGAGGTAAGGTCATGGATGTCACGGAGGTA
                      Gene:
                      MINK1 (Varview)
                      Functional Consequence:
                      splice_donor_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,initiator_codon_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      AAGGTCATGGATGTCACGGAGGT=0.000021/3 (GnomAD)
                      HGVS:

                      11.

                      rs1484487149 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        17:4891098 (GRCh38)
                        17:4794393 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:4891097:G:A
                        Gene:
                        MINK1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000017.11:g.4891098G>A, NC_000017.10:g.4794393G>A, NG_028005.1:g.62759G>A, NM_153827.5:c.1714G>A, NM_153827.4:c.1714G>A, NM_170663.5:c.1714G>A, NM_170663.4:c.1714G>A, NM_015716.5:c.1714G>A, NM_015716.4:c.1714G>A, NM_001024937.4:c.1714G>A, NM_001024937.3:c.1714G>A, NM_001321236.2:c.1549G>A, NM_001321236.1:c.1549G>A, XM_017024707.3:c.1636G>A, XM_017024707.2:c.1636G>A, XM_017024707.1:c.1636G>A, XM_006721531.2:c.1801G>A, XM_006721531.1:c.1801G>A, XM_006721532.2:c.1801G>A, XM_006721532.1:c.1801G>A, XM_017024708.2:c.1588G>A, XM_017024708.1:c.1588G>A, XM_006721536.2:c.1801G>A, XM_006721536.1:c.1801G>A, XM_017024704.1:c.1792G>A, XM_047436165.1:c.1792G>A, XM_017024705.1:c.1801G>A, XM_047436166.1:c.1801G>A, XM_047436167.1:c.1792G>A, XM_047436168.1:c.1714G>A, XM_011523906.1:c.1705G>A, XM_047436169.1:c.1705G>A, XM_017024706.1:c.1801G>A, XM_047436170.1:c.1714G>A, XM_047436171.1:c.1705G>A, XM_047436172.1:c.1705G>A, XM_047436173.1:c.1714G>A, XM_047436174.1:c.1705G>A, XM_047436175.1:c.1705G>A, XM_047436176.1:c.1714G>A, XM_047436177.1:c.1714G>A, XM_047436178.1:c.1705G>A, XM_047436179.1:c.1801G>A, NP_722549.2:p.Val572Met, NP_733763.1:p.Val572Met, NP_056531.1:p.Val572Met, NP_001020108.1:p.Val572Met, NP_001308165.1:p.Val517Met, XP_016880196.1:p.Val546Met, XP_006721594.1:p.Val601Met, XP_006721595.1:p.Val601Met, XP_016880197.1:p.Val530Met, XP_006721599.1:p.Val601Met, XP_016880193.1:p.Val598Met, XP_047292121.1:p.Val598Met, XP_016880194.1:p.Val601Met, XP_047292122.1:p.Val601Met, XP_047292123.1:p.Val598Met, XP_047292124.1:p.Val572Met, XP_011522208.1:p.Val569Met, XP_047292125.1:p.Val569Met, XP_016880195.1:p.Val601Met, XP_047292126.1:p.Val572Met, XP_047292127.1:p.Val569Met, XP_047292128.1:p.Val569Met, XP_047292129.1:p.Val572Met, XP_047292130.1:p.Val569Met, XP_047292131.1:p.Val569Met, XP_047292132.1:p.Val572Met, XP_047292133.1:p.Val572Met, XP_047292134.1:p.Val569Met, XP_047292135.1:p.Val601Met

                        12.

                        rs1483555298 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          17:4886121 (GRCh38)
                          17:4789416 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:4886120:T:C
                          Gene:
                          MINK1 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000047/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.4886121T>C, NC_000017.10:g.4789416T>C, NG_028005.1:g.57782T>C, NM_153827.5:c.696T>C, NM_153827.4:c.696T>C, NM_170663.5:c.696T>C, NM_170663.4:c.696T>C, NM_015716.5:c.696T>C, NM_015716.4:c.696T>C, NM_001024937.4:c.696T>C, NM_001024937.3:c.696T>C, NM_001321236.2:c.531T>C, NM_001321236.1:c.531T>C, XM_017024707.3:c.531T>C, XM_017024707.2:c.531T>C, XM_017024707.1:c.531T>C, XM_006721531.2:c.696T>C, XM_006721531.1:c.696T>C, XM_006721532.2:c.696T>C, XM_006721532.1:c.696T>C, XM_017024708.2:c.483T>C, XM_017024708.1:c.483T>C, XM_006721536.2:c.696T>C, XM_006721536.1:c.696T>C, XM_017024704.1:c.696T>C, XM_047436165.1:c.696T>C, XM_017024705.1:c.696T>C, XM_047436166.1:c.696T>C, XM_047436167.1:c.696T>C, XM_047436168.1:c.696T>C, XM_011523906.1:c.696T>C, XM_047436169.1:c.696T>C, XM_017024706.1:c.696T>C, XM_047436170.1:c.696T>C, XM_047436171.1:c.696T>C, XM_047436172.1:c.696T>C, XM_047436173.1:c.696T>C, XM_047436174.1:c.696T>C, XM_047436175.1:c.696T>C, XM_047436176.1:c.696T>C, XM_047436177.1:c.696T>C, XM_047436178.1:c.696T>C, XM_047436179.1:c.696T>C

                          13.

                          rs1483095133 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:4896813 (GRCh38)
                            17:4800108 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:4896812:G:A
                            Gene:
                            MINK1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                            HGVS:
                            NC_000017.11:g.4896813G>A, NC_000017.10:g.4800108G>A, NG_008029.2:g.11263C>T, NG_028005.1:g.68474G>A, NM_153827.5:c.3915G>A, NM_153827.4:c.3915G>A, NM_170663.5:c.3828G>A, NM_170663.4:c.3828G>A, NM_015716.5:c.3804G>A, NM_015716.4:c.3804G>A, NM_001024937.4:c.3855G>A, NM_001024937.3:c.3855G>A, NM_001321236.2:c.3639G>A, NM_001321236.1:c.3639G>A, XM_017024707.3:c.3837G>A, XM_017024707.2:c.3837G>A, XM_017024707.1:c.3837G>A, XM_006721531.2:c.4002G>A, XM_006721531.1:c.4002G>A, XM_006721532.2:c.3999G>A, XM_006721532.1:c.3999G>A, XM_017024708.2:c.3789G>A, XM_017024708.1:c.3789G>A, XM_006721536.2:c.3891G>A, XM_006721536.1:c.3891G>A, XM_017024704.1:c.3993G>A, XM_047436165.1:c.3990G>A, XM_017024705.1:c.3942G>A, XM_047436166.1:c.3939G>A, XM_047436167.1:c.3930G>A, XM_047436168.1:c.3912G>A, XM_011523906.1:c.3906G>A, XM_047436169.1:c.3903G>A, XM_017024706.1:c.3888G>A, XM_047436170.1:c.3852G>A, XM_047436171.1:c.3846G>A, XM_047436172.1:c.3843G>A, XM_047436173.1:c.3801G>A, XM_047436174.1:c.3795G>A, XM_047436175.1:c.3792G>A, XM_047436176.1:c.3744G>A, XM_047436177.1:c.3741G>A, XM_047436178.1:c.3735G>A

                            14.

                            rs1482898533 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->CGC [Show Flanks]
                              Chromosome:
                              17:4887775 (GRCh38)
                              17:4791071 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:4887775:CGCCGC:CGCCGCCGC
                              Gene:
                              MINK1 (Varview)
                              Functional Consequence:
                              inframe_insertion,coding_sequence_variant
                              HGVS:
                              NC_000017.11:g.4887776CGC[3], NC_000017.10:g.4791071CGC[3], NG_028005.1:g.59437CGC[3], NM_153827.5:c.1216CGC[3], NM_153827.4:c.1216CGC[3], NM_170663.5:c.1216CGC[3], NM_170663.4:c.1216CGC[3], NM_015716.5:c.1216CGC[3], NM_015716.4:c.1216CGC[3], NM_001024937.4:c.1216CGC[3], NM_001024937.3:c.1216CGC[3], NM_001321236.2:c.1051CGC[3], NM_001321236.1:c.1051CGC[3], XM_017024707.3:c.1051CGC[3], XM_017024707.2:c.1051CGC[3], XM_017024707.1:c.1051CGC[3], XM_006721531.2:c.1216CGC[3], XM_006721531.1:c.1216CGC[3], XM_006721532.2:c.1216CGC[3], XM_006721532.1:c.1216CGC[3], XM_017024708.2:c.1003CGC[3], XM_017024708.1:c.1003CGC[3], XM_006721536.2:c.1216CGC[3], XM_006721536.1:c.1216CGC[3], XM_017024704.1:c.1207CGC[3], XM_047436165.1:c.1207CGC[3], XM_017024705.1:c.1216CGC[3], XM_047436166.1:c.1216CGC[3], XM_047436167.1:c.1207CGC[3], XM_047436168.1:c.1216CGC[3], XM_011523906.1:c.1207CGC[3], XM_047436169.1:c.1207CGC[3], XM_017024706.1:c.1216CGC[3], XM_047436170.1:c.1216CGC[3], XM_047436171.1:c.1207CGC[3], XM_047436172.1:c.1207CGC[3], XM_047436173.1:c.1216CGC[3], XM_047436174.1:c.1207CGC[3], XM_047436175.1:c.1207CGC[3], XM_047436176.1:c.1216CGC[3], XM_047436177.1:c.1216CGC[3], XM_047436178.1:c.1207CGC[3], XM_047436179.1:c.1216CGC[3], NP_722549.2:p.Arg407dup, NP_733763.1:p.Arg407dup, NP_056531.1:p.Arg407dup, NP_001020108.1:p.Arg407dup, NP_001308165.1:p.Arg352dup, XP_016880196.1:p.Arg352dup, XP_006721594.1:p.Arg407dup, XP_006721595.1:p.Arg407dup, XP_016880197.1:p.Arg336dup, XP_006721599.1:p.Arg407dup, XP_016880193.1:p.Arg404dup, XP_047292121.1:p.Arg404dup, XP_016880194.1:p.Arg407dup, XP_047292122.1:p.Arg407dup, XP_047292123.1:p.Arg404dup, XP_047292124.1:p.Arg407dup, XP_011522208.1:p.Arg404dup, XP_047292125.1:p.Arg404dup, XP_016880195.1:p.Arg407dup, XP_047292126.1:p.Arg407dup, XP_047292127.1:p.Arg404dup, XP_047292128.1:p.Arg404dup, XP_047292129.1:p.Arg407dup, XP_047292130.1:p.Arg404dup, XP_047292131.1:p.Arg404dup, XP_047292132.1:p.Arg407dup, XP_047292133.1:p.Arg407dup, XP_047292134.1:p.Arg404dup, XP_047292135.1:p.Arg407dup

                              15.

                              rs1480756395 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                17:4894296 (GRCh38)
                                17:4797591 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:4894295:G:T
                                Gene:
                                MINK1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_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_000017.11:g.4894296G>T, NC_000017.10:g.4797591G>T, NG_028005.1:g.65957G>T, NM_153827.5:c.2793G>T, NM_153827.4:c.2793G>T, NM_170663.5:c.2706G>T, NM_170663.4:c.2706G>T, NM_015716.5:c.2682G>T, NM_015716.4:c.2682G>T, NM_001024937.4:c.2733G>T, NM_001024937.3:c.2733G>T, NM_001321236.2:c.2517G>T, NM_001321236.1:c.2517G>T, XM_017024707.3:c.2715G>T, XM_017024707.2:c.2715G>T, XM_017024707.1:c.2715G>T, XM_006721531.2:c.2880G>T, XM_006721531.1:c.2880G>T, XM_006721532.2:c.2877G>T, XM_006721532.1:c.2877G>T, XM_017024708.2:c.2667G>T, XM_017024708.1:c.2667G>T, XM_006721536.2:c.2769G>T, XM_006721536.1:c.2769G>T, XM_017024704.1:c.2871G>T, XM_047436165.1:c.2868G>T, XM_017024705.1:c.2820G>T, XM_047436166.1:c.2817G>T, XM_047436167.1:c.2808G>T, XM_047436168.1:c.2790G>T, XM_011523906.1:c.2784G>T, XM_047436169.1:c.2781G>T, XM_017024706.1:c.2766G>T, XM_047436170.1:c.2730G>T, XM_047436171.1:c.2724G>T, XM_047436172.1:c.2721G>T, XM_047436173.1:c.2679G>T, XM_047436174.1:c.2673G>T, XM_047436175.1:c.2670G>T, XM_047436176.1:c.2622G>T, XM_047436177.1:c.2619G>T, XM_047436178.1:c.2613G>T, XM_047436179.1:c.2880G>T, NP_722549.2:p.Lys931Asn, NP_733763.1:p.Lys902Asn, NP_056531.1:p.Lys894Asn, NP_001020108.1:p.Lys911Asn, NP_001308165.1:p.Lys839Asn, XP_016880196.1:p.Lys905Asn, XP_006721594.1:p.Lys960Asn, XP_006721595.1:p.Lys959Asn, XP_016880197.1:p.Lys889Asn, XP_006721599.1:p.Lys923Asn, XP_016880193.1:p.Lys957Asn, XP_047292121.1:p.Lys956Asn, XP_016880194.1:p.Lys940Asn, XP_047292122.1:p.Lys939Asn, XP_047292123.1:p.Lys936Asn, XP_047292124.1:p.Lys930Asn, XP_011522208.1:p.Lys928Asn, XP_047292125.1:p.Lys927Asn, XP_016880195.1:p.Lys922Asn, XP_047292126.1:p.Lys910Asn, XP_047292127.1:p.Lys908Asn, XP_047292128.1:p.Lys907Asn, XP_047292129.1:p.Lys893Asn, XP_047292130.1:p.Lys891Asn, XP_047292131.1:p.Lys890Asn, XP_047292132.1:p.Lys874Asn, XP_047292133.1:p.Lys873Asn, XP_047292134.1:p.Lys871Asn, XP_047292135.1:p.Lys960Asn

                                16.

                                rs1480112496 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:4881149 (GRCh38)
                                  17:4784444 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:4881148:C:T
                                  Gene:
                                  MINK1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.4881149C>T, NC_000017.10:g.4784444C>T, NG_028005.1:g.52810C>T, NM_153827.5:c.198C>T, NM_153827.4:c.198C>T, NM_170663.5:c.198C>T, NM_170663.4:c.198C>T, NM_015716.5:c.198C>T, NM_015716.4:c.198C>T, NM_001024937.4:c.198C>T, NM_001024937.3:c.198C>T, NM_001321236.2:c.33C>T, NM_001321236.1:c.33C>T, XM_017024707.3:c.33C>T, XM_017024707.2:c.33C>T, XM_017024707.1:c.33C>T, XM_006721531.2:c.198C>T, XM_006721531.1:c.198C>T, XM_006721532.2:c.198C>T, XM_006721532.1:c.198C>T, XM_017024708.2:c.-16C>T, XM_017024708.1:c.-16C>T, XM_006721536.2:c.198C>T, XM_006721536.1:c.198C>T, XM_017024704.1:c.198C>T, XM_047436165.1:c.198C>T, XM_017024705.1:c.198C>T, XM_047436166.1:c.198C>T, XM_047436167.1:c.198C>T, XM_047436168.1:c.198C>T, XM_011523906.1:c.198C>T, XM_047436169.1:c.198C>T, XM_017024706.1:c.198C>T, XM_047436170.1:c.198C>T, XM_047436171.1:c.198C>T, XM_047436172.1:c.198C>T, XM_047436173.1:c.198C>T, XM_047436174.1:c.198C>T, XM_047436175.1:c.198C>T, XM_047436176.1:c.198C>T, XM_047436177.1:c.198C>T, XM_047436178.1:c.198C>T, XM_047436179.1:c.198C>T

                                  17.

                                  rs1479401654 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:4889733 (GRCh38)
                                    17:4793028 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:4889732:G:A
                                    Gene:
                                    MINK1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.4889733G>A, NC_000017.10:g.4793028G>A, NG_028005.1:g.61394G>A, NM_153827.5:c.1317G>A, NM_153827.4:c.1317G>A, NM_170663.5:c.1317G>A, NM_170663.4:c.1317G>A, NM_015716.5:c.1317G>A, NM_015716.4:c.1317G>A, NM_001024937.4:c.1317G>A, NM_001024937.3:c.1317G>A, NM_001321236.2:c.1152G>A, NM_001321236.1:c.1152G>A, XM_017024707.3:c.1152G>A, XM_017024707.2:c.1152G>A, XM_017024707.1:c.1152G>A, XM_006721531.2:c.1317G>A, XM_006721531.1:c.1317G>A, XM_006721532.2:c.1317G>A, XM_006721532.1:c.1317G>A, XM_017024708.2:c.1104G>A, XM_017024708.1:c.1104G>A, XM_006721536.2:c.1317G>A, XM_006721536.1:c.1317G>A, XM_017024704.1:c.1308G>A, XM_047436165.1:c.1308G>A, XM_017024705.1:c.1317G>A, XM_047436166.1:c.1317G>A, XM_047436167.1:c.1308G>A, XM_047436168.1:c.1317G>A, XM_011523906.1:c.1308G>A, XM_047436169.1:c.1308G>A, XM_017024706.1:c.1317G>A, XM_047436170.1:c.1317G>A, XM_047436171.1:c.1308G>A, XM_047436172.1:c.1308G>A, XM_047436173.1:c.1317G>A, XM_047436174.1:c.1308G>A, XM_047436175.1:c.1308G>A, XM_047436176.1:c.1317G>A, XM_047436177.1:c.1317G>A, XM_047436178.1:c.1308G>A, XM_047436179.1:c.1317G>A

                                    18.

                                    rs1478587826 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      17:4894015 (GRCh38)
                                      17:4797310 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:4894014:C:A,NC_000017.11:4894014:C:T
                                      Gene:
                                      MINK1 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000017.11:g.4894015C>A, NC_000017.11:g.4894015C>T, NC_000017.10:g.4797310C>A, NC_000017.10:g.4797310C>T, NG_028005.1:g.65676C>A, NG_028005.1:g.65676C>T, NM_153827.5:c.2592C>A, NM_153827.5:c.2592C>T, NM_153827.4:c.2592C>A, NM_153827.4:c.2592C>T, NM_170663.5:c.2505C>A, NM_170663.5:c.2505C>T, NM_170663.4:c.2505C>A, NM_170663.4:c.2505C>T, NM_015716.5:c.2481C>A, NM_015716.5:c.2481C>T, NM_015716.4:c.2481C>A, NM_015716.4:c.2481C>T, NM_001024937.4:c.2532C>A, NM_001024937.4:c.2532C>T, NM_001024937.3:c.2532C>A, NM_001024937.3:c.2532C>T, NM_001321236.2:c.2316C>A, NM_001321236.2:c.2316C>T, NM_001321236.1:c.2316C>A, NM_001321236.1:c.2316C>T, XM_017024707.3:c.2514C>A, XM_017024707.3:c.2514C>T, XM_017024707.2:c.2514C>A, XM_017024707.2:c.2514C>T, XM_017024707.1:c.2514C>A, XM_017024707.1:c.2514C>T, XM_006721531.2:c.2679C>A, XM_006721531.2:c.2679C>T, XM_006721531.1:c.2679C>A, XM_006721531.1:c.2679C>T, XM_006721532.2:c.2676C>A, XM_006721532.2:c.2676C>T, XM_006721532.1:c.2676C>A, XM_006721532.1:c.2676C>T, XM_017024708.2:c.2466C>A, XM_017024708.2:c.2466C>T, XM_017024708.1:c.2466C>A, XM_017024708.1:c.2466C>T, XM_006721536.2:c.2568C>A, XM_006721536.2:c.2568C>T, XM_006721536.1:c.2568C>A, XM_006721536.1:c.2568C>T, XM_017024704.1:c.2670C>A, XM_017024704.1:c.2670C>T, XM_047436165.1:c.2667C>A, XM_047436165.1:c.2667C>T, XM_017024705.1:c.2619C>A, XM_017024705.1:c.2619C>T, XM_047436166.1:c.2616C>A, XM_047436166.1:c.2616C>T, XM_047436167.1:c.2607C>A, XM_047436167.1:c.2607C>T, XM_047436168.1:c.2589C>A, XM_047436168.1:c.2589C>T, XM_011523906.1:c.2583C>A, XM_011523906.1:c.2583C>T, XM_047436169.1:c.2580C>A, XM_047436169.1:c.2580C>T, XM_017024706.1:c.2565C>A, XM_017024706.1:c.2565C>T, XM_047436170.1:c.2529C>A, XM_047436170.1:c.2529C>T, XM_047436171.1:c.2523C>A, XM_047436171.1:c.2523C>T, XM_047436172.1:c.2520C>A, XM_047436172.1:c.2520C>T, XM_047436173.1:c.2478C>A, XM_047436173.1:c.2478C>T, XM_047436174.1:c.2472C>A, XM_047436174.1:c.2472C>T, XM_047436175.1:c.2469C>A, XM_047436175.1:c.2469C>T, XM_047436176.1:c.2421C>A, XM_047436176.1:c.2421C>T, XM_047436177.1:c.2418C>A, XM_047436177.1:c.2418C>T, XM_047436178.1:c.2412C>A, XM_047436178.1:c.2412C>T, XM_047436179.1:c.2679C>A, XM_047436179.1:c.2679C>T, NP_722549.2:p.Ser864Arg, NP_733763.1:p.Ser835Arg, NP_056531.1:p.Ser827Arg, NP_001020108.1:p.Ser844Arg, NP_001308165.1:p.Ser772Arg, XP_016880196.1:p.Ser838Arg, XP_006721594.1:p.Ser893Arg, XP_006721595.1:p.Ser892Arg, XP_016880197.1:p.Ser822Arg, XP_006721599.1:p.Ser856Arg, XP_016880193.1:p.Ser890Arg, XP_047292121.1:p.Ser889Arg, XP_016880194.1:p.Ser873Arg, XP_047292122.1:p.Ser872Arg, XP_047292123.1:p.Ser869Arg, XP_047292124.1:p.Ser863Arg, XP_011522208.1:p.Ser861Arg, XP_047292125.1:p.Ser860Arg, XP_016880195.1:p.Ser855Arg, XP_047292126.1:p.Ser843Arg, XP_047292127.1:p.Ser841Arg, XP_047292128.1:p.Ser840Arg, XP_047292129.1:p.Ser826Arg, XP_047292130.1:p.Ser824Arg, XP_047292131.1:p.Ser823Arg, XP_047292132.1:p.Ser807Arg, XP_047292133.1:p.Ser806Arg, XP_047292134.1:p.Ser804Arg, XP_047292135.1:p.Ser893Arg

                                      19.

                                      rs1477726171 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        17:4893053 (GRCh38)
                                        17:4796348 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:4893052:C:A
                                        Gene:
                                        MINK1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.4893053C>A, NC_000017.10:g.4796348C>A, NG_028005.1:g.64714C>A, NM_153827.5:c.2386C>A, NM_153827.4:c.2386C>A, NM_170663.5:c.2275C>A, NM_170663.4:c.2275C>A, NM_015716.5:c.2275C>A, NM_015716.4:c.2275C>A, NM_001024937.4:c.2326C>A, NM_001024937.3:c.2326C>A, NM_001321236.2:c.2110C>A, NM_001321236.1:c.2110C>A, XM_017024707.3:c.2308C>A, XM_017024707.2:c.2308C>A, XM_017024707.1:c.2308C>A, XM_006721531.2:c.2473C>A, XM_006721531.1:c.2473C>A, XM_006721532.2:c.2473C>A, XM_006721532.1:c.2473C>A, XM_017024708.2:c.2260C>A, XM_017024708.1:c.2260C>A, XM_006721536.2:c.2362C>A, XM_006721536.1:c.2362C>A, XM_017024704.1:c.2464C>A, XM_047436165.1:c.2464C>A, XM_017024705.1:c.2413C>A, XM_047436166.1:c.2413C>A, XM_047436167.1:c.2404C>A, XM_047436168.1:c.2386C>A, XM_011523906.1:c.2377C>A, XM_047436169.1:c.2377C>A, XM_017024706.1:c.2362C>A, XM_047436170.1:c.2326C>A, XM_047436171.1:c.2317C>A, XM_047436172.1:c.2317C>A, XM_047436173.1:c.2275C>A, XM_047436174.1:c.2266C>A, XM_047436175.1:c.2266C>A, XM_047436176.1:c.2215C>A, XM_047436177.1:c.2215C>A, XM_047436178.1:c.2206C>A, XM_047436179.1:c.2473C>A, NP_722549.2:p.Pro796Thr, NP_733763.1:p.Pro759Thr, NP_056531.1:p.Pro759Thr, NP_001020108.1:p.Pro776Thr, NP_001308165.1:p.Pro704Thr, XP_016880196.1:p.Pro770Thr, XP_006721594.1:p.Pro825Thr, XP_006721595.1:p.Pro825Thr, XP_016880197.1:p.Pro754Thr, XP_006721599.1:p.Pro788Thr, XP_016880193.1:p.Pro822Thr, XP_047292121.1:p.Pro822Thr, XP_016880194.1:p.Pro805Thr, XP_047292122.1:p.Pro805Thr, XP_047292123.1:p.Pro802Thr, XP_047292124.1:p.Pro796Thr, XP_011522208.1:p.Pro793Thr, XP_047292125.1:p.Pro793Thr, XP_016880195.1:p.Pro788Thr, XP_047292126.1:p.Pro776Thr, XP_047292127.1:p.Pro773Thr, XP_047292128.1:p.Pro773Thr, XP_047292129.1:p.Pro759Thr, XP_047292130.1:p.Pro756Thr, XP_047292131.1:p.Pro756Thr, XP_047292132.1:p.Pro739Thr, XP_047292133.1:p.Pro739Thr, XP_047292134.1:p.Pro736Thr, XP_047292135.1:p.Pro825Thr

                                        20.

                                        rs1477122541 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          17:4893011 (GRCh38)
                                          17:4796306 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:4893010:T:A,NC_000017.11:4893010:T:C
                                          Gene:
                                          MINK1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.000071/1 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.4893011T>A, NC_000017.11:g.4893011T>C, NC_000017.10:g.4796306T>A, NC_000017.10:g.4796306T>C, NG_028005.1:g.64672T>A, NG_028005.1:g.64672T>C, NM_153827.5:c.2344T>A, NM_153827.5:c.2344T>C, NM_153827.4:c.2344T>A, NM_153827.4:c.2344T>C, NM_170663.5:c.2233T>A, NM_170663.5:c.2233T>C, NM_170663.4:c.2233T>A, NM_170663.4:c.2233T>C, NM_015716.5:c.2233T>A, NM_015716.5:c.2233T>C, NM_015716.4:c.2233T>A, NM_015716.4:c.2233T>C, NM_001024937.4:c.2284T>A, NM_001024937.4:c.2284T>C, NM_001024937.3:c.2284T>A, NM_001024937.3:c.2284T>C, NM_001321236.2:c.2068T>A, NM_001321236.2:c.2068T>C, NM_001321236.1:c.2068T>A, NM_001321236.1:c.2068T>C, XM_017024707.3:c.2266T>A, XM_017024707.3:c.2266T>C, XM_017024707.2:c.2266T>A, XM_017024707.2:c.2266T>C, XM_017024707.1:c.2266T>A, XM_017024707.1:c.2266T>C, XM_006721531.2:c.2431T>A, XM_006721531.2:c.2431T>C, XM_006721531.1:c.2431T>A, XM_006721531.1:c.2431T>C, XM_006721532.2:c.2431T>A, XM_006721532.2:c.2431T>C, XM_006721532.1:c.2431T>A, XM_006721532.1:c.2431T>C, XM_017024708.2:c.2218T>A, XM_017024708.2:c.2218T>C, XM_017024708.1:c.2218T>A, XM_017024708.1:c.2218T>C, XM_006721536.2:c.2320T>A, XM_006721536.2:c.2320T>C, XM_006721536.1:c.2320T>A, XM_006721536.1:c.2320T>C, XM_017024704.1:c.2422T>A, XM_017024704.1:c.2422T>C, XM_047436165.1:c.2422T>A, XM_047436165.1:c.2422T>C, XM_017024705.1:c.2371T>A, XM_017024705.1:c.2371T>C, XM_047436166.1:c.2371T>A, XM_047436166.1:c.2371T>C, XM_047436167.1:c.2362T>A, XM_047436167.1:c.2362T>C, XM_047436168.1:c.2344T>A, XM_047436168.1:c.2344T>C, XM_011523906.1:c.2335T>A, XM_011523906.1:c.2335T>C, XM_047436169.1:c.2335T>A, XM_047436169.1:c.2335T>C, XM_017024706.1:c.2320T>A, XM_017024706.1:c.2320T>C, XM_047436170.1:c.2284T>A, XM_047436170.1:c.2284T>C, XM_047436171.1:c.2275T>A, XM_047436171.1:c.2275T>C, XM_047436172.1:c.2275T>A, XM_047436172.1:c.2275T>C, XM_047436173.1:c.2233T>A, XM_047436173.1:c.2233T>C, XM_047436174.1:c.2224T>A, XM_047436174.1:c.2224T>C, XM_047436175.1:c.2224T>A, XM_047436175.1:c.2224T>C, XM_047436176.1:c.2173T>A, XM_047436176.1:c.2173T>C, XM_047436177.1:c.2173T>A, XM_047436177.1:c.2173T>C, XM_047436178.1:c.2164T>A, XM_047436178.1:c.2164T>C, XM_047436179.1:c.2431T>A, XM_047436179.1:c.2431T>C, NP_722549.2:p.Ser782Thr, NP_722549.2:p.Ser782Pro, NP_733763.1:p.Ser745Thr, NP_733763.1:p.Ser745Pro, NP_056531.1:p.Ser745Thr, NP_056531.1:p.Ser745Pro, NP_001020108.1:p.Ser762Thr, NP_001020108.1:p.Ser762Pro, NP_001308165.1:p.Ser690Thr, NP_001308165.1:p.Ser690Pro, XP_016880196.1:p.Ser756Thr, XP_016880196.1:p.Ser756Pro, XP_006721594.1:p.Ser811Thr, XP_006721594.1:p.Ser811Pro, XP_006721595.1:p.Ser811Thr, XP_006721595.1:p.Ser811Pro, XP_016880197.1:p.Ser740Thr, XP_016880197.1:p.Ser740Pro, XP_006721599.1:p.Ser774Thr, XP_006721599.1:p.Ser774Pro, XP_016880193.1:p.Ser808Thr, XP_016880193.1:p.Ser808Pro, XP_047292121.1:p.Ser808Thr, XP_047292121.1:p.Ser808Pro, XP_016880194.1:p.Ser791Thr, XP_016880194.1:p.Ser791Pro, XP_047292122.1:p.Ser791Thr, XP_047292122.1:p.Ser791Pro, XP_047292123.1:p.Ser788Thr, XP_047292123.1:p.Ser788Pro, XP_047292124.1:p.Ser782Thr, XP_047292124.1:p.Ser782Pro, XP_011522208.1:p.Ser779Thr, XP_011522208.1:p.Ser779Pro, XP_047292125.1:p.Ser779Thr, XP_047292125.1:p.Ser779Pro, XP_016880195.1:p.Ser774Thr, XP_016880195.1:p.Ser774Pro, XP_047292126.1:p.Ser762Thr, XP_047292126.1:p.Ser762Pro, XP_047292127.1:p.Ser759Thr, XP_047292127.1:p.Ser759Pro, XP_047292128.1:p.Ser759Thr, XP_047292128.1:p.Ser759Pro, XP_047292129.1:p.Ser745Thr, XP_047292129.1:p.Ser745Pro, XP_047292130.1:p.Ser742Thr, XP_047292130.1:p.Ser742Pro, XP_047292131.1:p.Ser742Thr, XP_047292131.1:p.Ser742Pro, XP_047292132.1:p.Ser725Thr, XP_047292132.1:p.Ser725Pro, XP_047292133.1:p.Ser725Thr, XP_047292133.1:p.Ser725Pro, XP_047292134.1:p.Ser722Thr, XP_047292134.1:p.Ser722Pro, XP_047292135.1:p.Ser811Thr, XP_047292135.1:p.Ser811Pro

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