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Items: 1 to 20 of 2304

1.

rs1490943687 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:86763156 (GRCh38)
    4:87684309 (GRCh37)
    Canonical SPDI:
    NC_000004.12:86763155:A:G
    Gene:
    PTPN13 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000004.12:g.86763156A>G, NC_000004.11:g.87684309A>G, NG_029704.1:g.173842A>G, NM_080685.3:c.3983A>G, NM_080685.2:c.3983A>G, NM_080683.3:c.3983A>G, NM_080683.2:c.3983A>G, NM_006264.3:c.3926A>G, NM_006264.2:c.3926A>G, NM_080684.3:c.3410A>G, NM_080684.2:c.3410A>G, XM_011532165.3:c.3983A>G, XM_011532165.2:c.3983A>G, XM_011532165.1:c.3983A>G, XM_017008511.3:c.3983A>G, XM_017008511.2:c.3983A>G, XM_017008511.1:c.3983A>G, XM_017008512.3:c.3926A>G, XM_017008512.2:c.3926A>G, XM_017008512.1:c.3926A>G, XM_017008513.3:c.3926A>G, XM_017008513.2:c.3926A>G, XM_017008513.1:c.3926A>G, XM_017008514.3:c.3926A>G, XM_017008514.2:c.3926A>G, XM_017008514.1:c.3926A>G, XM_017008515.3:c.3422A>G, XM_017008515.2:c.3422A>G, XM_017008515.1:c.3422A>G, XM_017008516.3:c.3410A>G, XM_017008516.2:c.3410A>G, XM_017008516.1:c.3410A>G, XM_047416036.1:c.3668A>G, XM_047416037.1:c.3422A>G, XM_047416038.1:c.3410A>G, XM_047416039.1:c.3422A>G, XM_047416040.1:c.3365A>G, XM_047416041.1:c.3410A>G, XM_047416042.1:c.3422A>G, XM_047416043.1:c.3365A>G, XM_047416044.1:c.3365A>G, XM_047416045.1:c.3365A>G, XM_047416046.1:c.2849A>G, XM_047416047.1:c.2849A>G, XM_047416048.1:c.2849A>G, NP_542416.1:p.Tyr1328Cys, NP_542414.1:p.Tyr1328Cys, NP_006255.1:p.Tyr1309Cys, NP_542415.1:p.Tyr1137Cys, XP_011530467.1:p.Tyr1328Cys, XP_016864000.1:p.Tyr1328Cys, XP_016864001.1:p.Tyr1309Cys, XP_016864002.1:p.Tyr1309Cys, XP_016864003.1:p.Tyr1309Cys, XP_016864004.1:p.Tyr1141Cys, XP_016864005.1:p.Tyr1137Cys, XP_047271992.1:p.Tyr1223Cys, XP_047271993.1:p.Tyr1141Cys, XP_047271994.1:p.Tyr1137Cys, XP_047271995.1:p.Tyr1141Cys, XP_047271996.1:p.Tyr1122Cys, XP_047271997.1:p.Tyr1137Cys, XP_047271998.1:p.Tyr1141Cys, XP_047271999.1:p.Tyr1122Cys, XP_047272000.1:p.Tyr1122Cys, XP_047272001.1:p.Tyr1122Cys, XP_047272002.1:p.Tyr950Cys, XP_047272003.1:p.Tyr950Cys, XP_047272004.1:p.Tyr950Cys

    2.

    rs1490569835 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      4:86807664 (GRCh38)
      4:87728817 (GRCh37)
      Canonical SPDI:
      NC_000004.12:86807663:G:C
      Gene:
      PTPN13 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.86807664G>C, NC_000004.11:g.87728817G>C, NG_029704.1:g.218350G>C, NM_080685.3:c.6865G>C, NM_080685.2:c.6865G>C, NM_080683.3:c.6850G>C, NM_080683.2:c.6850G>C, NM_006264.3:c.6793G>C, NM_006264.2:c.6793G>C, NM_080684.3:c.6277G>C, NM_080684.2:c.6277G>C, XM_011532165.3:c.6916G>C, XM_011532165.2:c.6916G>C, XM_011532165.1:c.6916G>C, XM_017008511.3:c.6901G>C, XM_017008511.2:c.6901G>C, XM_017008511.1:c.6901G>C, XM_017008512.3:c.6859G>C, XM_017008512.2:c.6859G>C, XM_017008512.1:c.6859G>C, XM_017008513.3:c.6844G>C, XM_017008513.2:c.6844G>C, XM_017008513.1:c.6844G>C, XM_017008514.3:c.6808G>C, XM_017008514.2:c.6808G>C, XM_017008514.1:c.6808G>C, XM_017008515.3:c.6355G>C, XM_017008515.2:c.6355G>C, XM_017008515.1:c.6355G>C, XM_017008516.3:c.6343G>C, XM_017008516.2:c.6343G>C, XM_017008516.1:c.6343G>C, XM_047416036.1:c.6601G>C, XM_047416037.1:c.6340G>C, XM_047416038.1:c.6328G>C, XM_047416039.1:c.6304G>C, XM_047416040.1:c.6298G>C, XM_047416041.1:c.6292G>C, XM_047416042.1:c.6289G>C, XM_047416043.1:c.6283G>C, XM_047416044.1:c.6247G>C, XM_047416045.1:c.6232G>C, XM_047416046.1:c.5767G>C, XM_047416047.1:c.5731G>C, XM_047416048.1:c.5716G>C, NP_542416.1:p.Gly2289Arg, NP_542414.1:p.Gly2284Arg, NP_006255.1:p.Gly2265Arg, NP_542415.1:p.Gly2093Arg, XP_011530467.1:p.Gly2306Arg, XP_016864000.1:p.Gly2301Arg, XP_016864001.1:p.Gly2287Arg, XP_016864002.1:p.Gly2282Arg, XP_016864003.1:p.Gly2270Arg, XP_016864004.1:p.Gly2119Arg, XP_016864005.1:p.Gly2115Arg, XP_047271992.1:p.Gly2201Arg, XP_047271993.1:p.Gly2114Arg, XP_047271994.1:p.Gly2110Arg, XP_047271995.1:p.Gly2102Arg, XP_047271996.1:p.Gly2100Arg, XP_047271997.1:p.Gly2098Arg, XP_047271998.1:p.Gly2097Arg, XP_047271999.1:p.Gly2095Arg, XP_047272000.1:p.Gly2083Arg, XP_047272001.1:p.Gly2078Arg, XP_047272002.1:p.Gly1923Arg, XP_047272003.1:p.Gly1911Arg, XP_047272004.1:p.Gly1906Arg

      3.

      rs1490298951 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A,C [Show Flanks]
        Chromosome:
        4:86766454 (GRCh38)
        4:87687607 (GRCh37)
        Canonical SPDI:
        NC_000004.12:86766453:T:A,NC_000004.12:86766453:T:C
        Gene:
        PTPN13 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.000066/1 (ALFA)
        C=0.000007/1 (GnomAD)
        A=0.000223/1 (Estonian)
        HGVS:
        NC_000004.12:g.86766454T>A, NC_000004.12:g.86766454T>C, NC_000004.11:g.87687607T>A, NC_000004.11:g.87687607T>C, NG_029704.1:g.177140T>A, NG_029704.1:g.177140T>C, NM_080685.3:c.4281T>A, NM_080685.3:c.4281T>C, NM_080685.2:c.4281T>A, NM_080685.2:c.4281T>C, NM_080683.3:c.4266T>A, NM_080683.3:c.4266T>C, NM_080683.2:c.4266T>A, NM_080683.2:c.4266T>C, NM_006264.3:c.4209T>A, NM_006264.3:c.4209T>C, NM_006264.2:c.4209T>A, NM_006264.2:c.4209T>C, NM_080684.3:c.3693T>A, NM_080684.3:c.3693T>C, NM_080684.2:c.3693T>A, NM_080684.2:c.3693T>C, XM_011532165.3:c.4281T>A, XM_011532165.3:c.4281T>C, XM_011532165.2:c.4281T>A, XM_011532165.2:c.4281T>C, XM_011532165.1:c.4281T>A, XM_011532165.1:c.4281T>C, XM_017008511.3:c.4266T>A, XM_017008511.3:c.4266T>C, XM_017008511.2:c.4266T>A, XM_017008511.2:c.4266T>C, XM_017008511.1:c.4266T>A, XM_017008511.1:c.4266T>C, XM_017008512.3:c.4224T>A, XM_017008512.3:c.4224T>C, XM_017008512.2:c.4224T>A, XM_017008512.2:c.4224T>C, XM_017008512.1:c.4224T>A, XM_017008512.1:c.4224T>C, XM_017008513.3:c.4209T>A, XM_017008513.3:c.4209T>C, XM_017008513.2:c.4209T>A, XM_017008513.2:c.4209T>C, XM_017008513.1:c.4209T>A, XM_017008513.1:c.4209T>C, XM_017008514.3:c.4224T>A, XM_017008514.3:c.4224T>C, XM_017008514.2:c.4224T>A, XM_017008514.2:c.4224T>C, XM_017008514.1:c.4224T>A, XM_017008514.1:c.4224T>C, XM_017008515.3:c.3720T>A, XM_017008515.3:c.3720T>C, XM_017008515.2:c.3720T>A, XM_017008515.2:c.3720T>C, XM_017008515.1:c.3720T>A, XM_017008515.1:c.3720T>C, XM_017008516.3:c.3708T>A, XM_017008516.3:c.3708T>C, XM_017008516.2:c.3708T>A, XM_017008516.2:c.3708T>C, XM_017008516.1:c.3708T>A, XM_017008516.1:c.3708T>C, XM_047416036.1:c.3966T>A, XM_047416036.1:c.3966T>C, XM_047416037.1:c.3705T>A, XM_047416037.1:c.3705T>C, XM_047416038.1:c.3693T>A, XM_047416038.1:c.3693T>C, XM_047416039.1:c.3720T>A, XM_047416039.1:c.3720T>C, XM_047416040.1:c.3663T>A, XM_047416040.1:c.3663T>C, XM_047416041.1:c.3708T>A, XM_047416041.1:c.3708T>C, XM_047416042.1:c.3705T>A, XM_047416042.1:c.3705T>C, XM_047416043.1:c.3648T>A, XM_047416043.1:c.3648T>C, XM_047416044.1:c.3663T>A, XM_047416044.1:c.3663T>C, XM_047416045.1:c.3648T>A, XM_047416045.1:c.3648T>C, XM_047416046.1:c.3132T>A, XM_047416046.1:c.3132T>C, XM_047416047.1:c.3147T>A, XM_047416047.1:c.3147T>C, XM_047416048.1:c.3132T>A, XM_047416048.1:c.3132T>C, NP_542416.1:p.Asn1427Lys, NP_542414.1:p.Asn1422Lys, NP_006255.1:p.Asn1403Lys, NP_542415.1:p.Asn1231Lys, XP_011530467.1:p.Asn1427Lys, XP_016864000.1:p.Asn1422Lys, XP_016864001.1:p.Asn1408Lys, XP_016864002.1:p.Asn1403Lys, XP_016864003.1:p.Asn1408Lys, XP_016864004.1:p.Asn1240Lys, XP_016864005.1:p.Asn1236Lys, XP_047271992.1:p.Asn1322Lys, XP_047271993.1:p.Asn1235Lys, XP_047271994.1:p.Asn1231Lys, XP_047271995.1:p.Asn1240Lys, XP_047271996.1:p.Asn1221Lys, XP_047271997.1:p.Asn1236Lys, XP_047271998.1:p.Asn1235Lys, XP_047271999.1:p.Asn1216Lys, XP_047272000.1:p.Asn1221Lys, XP_047272001.1:p.Asn1216Lys, XP_047272002.1:p.Asn1044Lys, XP_047272003.1:p.Asn1049Lys, XP_047272004.1:p.Asn1044Lys

        4.

        rs1489774757 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          4:86807751 (GRCh38)
          4:87728904 (GRCh37)
          Canonical SPDI:
          NC_000004.12:86807750:G:C
          Gene:
          PTPN13 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000004.12:g.86807751G>C, NC_000004.11:g.87728904G>C, NG_029704.1:g.218437G>C, NM_080685.3:c.6952G>C, NM_080685.2:c.6952G>C, NM_080683.3:c.6937G>C, NM_080683.2:c.6937G>C, NM_006264.3:c.6880G>C, NM_006264.2:c.6880G>C, NM_080684.3:c.6364G>C, NM_080684.2:c.6364G>C, XM_011532165.3:c.7003G>C, XM_011532165.2:c.7003G>C, XM_011532165.1:c.7003G>C, XM_017008511.3:c.6988G>C, XM_017008511.2:c.6988G>C, XM_017008511.1:c.6988G>C, XM_017008512.3:c.6946G>C, XM_017008512.2:c.6946G>C, XM_017008512.1:c.6946G>C, XM_017008513.3:c.6931G>C, XM_017008513.2:c.6931G>C, XM_017008513.1:c.6931G>C, XM_017008514.3:c.6895G>C, XM_017008514.2:c.6895G>C, XM_017008514.1:c.6895G>C, XM_017008515.3:c.6442G>C, XM_017008515.2:c.6442G>C, XM_017008515.1:c.6442G>C, XM_017008516.3:c.6430G>C, XM_017008516.2:c.6430G>C, XM_017008516.1:c.6430G>C, XM_047416036.1:c.6688G>C, XM_047416037.1:c.6427G>C, XM_047416038.1:c.6415G>C, XM_047416039.1:c.6391G>C, XM_047416040.1:c.6385G>C, XM_047416041.1:c.6379G>C, XM_047416042.1:c.6376G>C, XM_047416043.1:c.6370G>C, XM_047416044.1:c.6334G>C, XM_047416045.1:c.6319G>C, XM_047416046.1:c.5854G>C, XM_047416047.1:c.5818G>C, XM_047416048.1:c.5803G>C, NP_542416.1:p.Glu2318Gln, NP_542414.1:p.Glu2313Gln, NP_006255.1:p.Glu2294Gln, NP_542415.1:p.Glu2122Gln, XP_011530467.1:p.Glu2335Gln, XP_016864000.1:p.Glu2330Gln, XP_016864001.1:p.Glu2316Gln, XP_016864002.1:p.Glu2311Gln, XP_016864003.1:p.Glu2299Gln, XP_016864004.1:p.Glu2148Gln, XP_016864005.1:p.Glu2144Gln, XP_047271992.1:p.Glu2230Gln, XP_047271993.1:p.Glu2143Gln, XP_047271994.1:p.Glu2139Gln, XP_047271995.1:p.Glu2131Gln, XP_047271996.1:p.Glu2129Gln, XP_047271997.1:p.Glu2127Gln, XP_047271998.1:p.Glu2126Gln, XP_047271999.1:p.Glu2124Gln, XP_047272000.1:p.Glu2112Gln, XP_047272001.1:p.Glu2107Gln, XP_047272002.1:p.Glu1952Gln, XP_047272003.1:p.Glu1940Gln, XP_047272004.1:p.Glu1935Gln

          5.

          rs1489503094 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            4:86732639 (GRCh38)
            4:87653792 (GRCh37)
            Canonical SPDI:
            NC_000004.12:86732638:G:A
            Gene:
            PTPN13 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.86732639G>A, NC_000004.11:g.87653792G>A, NG_029704.1:g.143325G>A, NM_080685.3:c.1731G>A, NM_080685.2:c.1731G>A, NM_080683.3:c.1731G>A, NM_080683.2:c.1731G>A, NM_006264.3:c.1731G>A, NM_006264.2:c.1731G>A, NM_080684.3:c.1731G>A, NM_080684.2:c.1731G>A, XM_011532165.3:c.1731G>A, XM_011532165.2:c.1731G>A, XM_011532165.1:c.1731G>A, XM_017008511.3:c.1731G>A, XM_017008511.2:c.1731G>A, XM_017008511.1:c.1731G>A, XM_017008512.3:c.1731G>A, XM_017008512.2:c.1731G>A, XM_017008512.1:c.1731G>A, XM_017008513.3:c.1731G>A, XM_017008513.2:c.1731G>A, XM_017008513.1:c.1731G>A, XM_017008514.3:c.1731G>A, XM_017008514.2:c.1731G>A, XM_017008514.1:c.1731G>A, XM_017008515.3:c.1170G>A, XM_017008515.2:c.1170G>A, XM_017008515.1:c.1170G>A, XM_017008516.3:c.1731G>A, XM_017008516.2:c.1731G>A, XM_017008516.1:c.1731G>A, XM_047416036.1:c.1416G>A, XM_047416037.1:c.1170G>A, XM_047416038.1:c.1731G>A, XM_047416039.1:c.1170G>A, XM_047416040.1:c.1170G>A, XM_047416041.1:c.1731G>A, XM_047416042.1:c.1170G>A, XM_047416043.1:c.1170G>A, XM_047416044.1:c.1170G>A, XM_047416045.1:c.1170G>A, XM_047416046.1:c.1170G>A, XM_047416047.1:c.1170G>A, XM_047416048.1:c.1170G>A, NP_542416.1:p.Met577Ile, NP_542414.1:p.Met577Ile, NP_006255.1:p.Met577Ile, NP_542415.1:p.Met577Ile, XP_011530467.1:p.Met577Ile, XP_016864000.1:p.Met577Ile, XP_016864001.1:p.Met577Ile, XP_016864002.1:p.Met577Ile, XP_016864003.1:p.Met577Ile, XP_016864004.1:p.Met390Ile, XP_016864005.1:p.Met577Ile, XP_047271992.1:p.Met472Ile, XP_047271993.1:p.Met390Ile, XP_047271994.1:p.Met577Ile, XP_047271995.1:p.Met390Ile, XP_047271996.1:p.Met390Ile, XP_047271997.1:p.Met577Ile, XP_047271998.1:p.Met390Ile, XP_047271999.1:p.Met390Ile, XP_047272000.1:p.Met390Ile, XP_047272001.1:p.Met390Ile, XP_047272002.1:p.Met390Ile, XP_047272003.1:p.Met390Ile, XP_047272004.1:p.Met390Ile

            6.

            rs1488937120 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:86763018 (GRCh38)
              4:87684171 (GRCh37)
              Canonical SPDI:
              NC_000004.12:86763017:C:T
              Gene:
              PTPN13 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_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.86763018C>T, NC_000004.11:g.87684171C>T, NG_029704.1:g.173704C>T, NM_080685.3:c.3845C>T, NM_080685.2:c.3845C>T, NM_080683.3:c.3845C>T, NM_080683.2:c.3845C>T, NM_006264.3:c.3788C>T, NM_006264.2:c.3788C>T, NM_080684.3:c.3272C>T, NM_080684.2:c.3272C>T, XM_011532165.3:c.3845C>T, XM_011532165.2:c.3845C>T, XM_011532165.1:c.3845C>T, XM_017008511.3:c.3845C>T, XM_017008511.2:c.3845C>T, XM_017008511.1:c.3845C>T, XM_017008512.3:c.3788C>T, XM_017008512.2:c.3788C>T, XM_017008512.1:c.3788C>T, XM_017008513.3:c.3788C>T, XM_017008513.2:c.3788C>T, XM_017008513.1:c.3788C>T, XM_017008514.3:c.3788C>T, XM_017008514.2:c.3788C>T, XM_017008514.1:c.3788C>T, XM_017008515.3:c.3284C>T, XM_017008515.2:c.3284C>T, XM_017008515.1:c.3284C>T, XM_017008516.3:c.3272C>T, XM_017008516.2:c.3272C>T, XM_017008516.1:c.3272C>T, XM_047416036.1:c.3530C>T, XM_047416037.1:c.3284C>T, XM_047416038.1:c.3272C>T, XM_047416039.1:c.3284C>T, XM_047416040.1:c.3227C>T, XM_047416041.1:c.3272C>T, XM_047416042.1:c.3284C>T, XM_047416043.1:c.3227C>T, XM_047416044.1:c.3227C>T, XM_047416045.1:c.3227C>T, XM_047416046.1:c.2711C>T, XM_047416047.1:c.2711C>T, XM_047416048.1:c.2711C>T, NP_542416.1:p.Pro1282Leu, NP_542414.1:p.Pro1282Leu, NP_006255.1:p.Pro1263Leu, NP_542415.1:p.Pro1091Leu, XP_011530467.1:p.Pro1282Leu, XP_016864000.1:p.Pro1282Leu, XP_016864001.1:p.Pro1263Leu, XP_016864002.1:p.Pro1263Leu, XP_016864003.1:p.Pro1263Leu, XP_016864004.1:p.Pro1095Leu, XP_016864005.1:p.Pro1091Leu, XP_047271992.1:p.Pro1177Leu, XP_047271993.1:p.Pro1095Leu, XP_047271994.1:p.Pro1091Leu, XP_047271995.1:p.Pro1095Leu, XP_047271996.1:p.Pro1076Leu, XP_047271997.1:p.Pro1091Leu, XP_047271998.1:p.Pro1095Leu, XP_047271999.1:p.Pro1076Leu, XP_047272000.1:p.Pro1076Leu, XP_047272001.1:p.Pro1076Leu, XP_047272002.1:p.Pro904Leu, XP_047272003.1:p.Pro904Leu, XP_047272004.1:p.Pro904Leu

              7.

              rs1488689791 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                4:86744971 (GRCh38)
                4:87666124 (GRCh37)
                Canonical SPDI:
                NC_000004.12:86744970:G:A
                Gene:
                PTPN13 (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)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000004.12:g.86744971G>A, NC_000004.11:g.87666124G>A, NG_029704.1:g.155657G>A, NM_080685.3:c.2493G>A, NM_080685.2:c.2493G>A, NM_080683.3:c.2493G>A, NM_080683.2:c.2493G>A, NM_006264.3:c.2493G>A, NM_006264.2:c.2493G>A, NM_080684.3:c.2493G>A, NM_080684.2:c.2493G>A, XM_011532165.3:c.2493G>A, XM_011532165.2:c.2493G>A, XM_011532165.1:c.2493G>A, XM_017008511.3:c.2493G>A, XM_017008511.2:c.2493G>A, XM_017008511.1:c.2493G>A, XM_017008512.3:c.2493G>A, XM_017008512.2:c.2493G>A, XM_017008512.1:c.2493G>A, XM_017008513.3:c.2493G>A, XM_017008513.2:c.2493G>A, XM_017008513.1:c.2493G>A, XM_017008514.3:c.2493G>A, XM_017008514.2:c.2493G>A, XM_017008514.1:c.2493G>A, XM_017008515.3:c.1932G>A, XM_017008515.2:c.1932G>A, XM_017008515.1:c.1932G>A, XM_017008516.3:c.2493G>A, XM_017008516.2:c.2493G>A, XM_017008516.1:c.2493G>A, XM_047416036.1:c.2178G>A, XM_047416037.1:c.1932G>A, XM_047416038.1:c.2493G>A, XM_047416039.1:c.1932G>A, XM_047416040.1:c.1932G>A, XM_047416041.1:c.2493G>A, XM_047416042.1:c.1932G>A, XM_047416043.1:c.1932G>A, XM_047416044.1:c.1932G>A, XM_047416045.1:c.1932G>A, XM_047416046.1:c.1932G>A, XM_047416047.1:c.1932G>A, XM_047416048.1:c.1932G>A

                8.

                rs1488209188 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:86775233 (GRCh38)
                  4:87696386 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:86775232:A:G
                  Gene:
                  PTPN13 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000012/3 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.86775233A>G, NC_000004.11:g.87696386A>G, NG_029704.1:g.185919A>G, NM_080685.3:c.5586A>G, NM_080685.2:c.5586A>G, NM_080683.3:c.5571A>G, NM_080683.2:c.5571A>G, NM_006264.3:c.5514A>G, NM_006264.2:c.5514A>G, NM_080684.3:c.4998A>G, NM_080684.2:c.4998A>G, XM_011532165.3:c.5586A>G, XM_011532165.2:c.5586A>G, XM_011532165.1:c.5586A>G, XM_017008511.3:c.5571A>G, XM_017008511.2:c.5571A>G, XM_017008511.1:c.5571A>G, XM_017008512.3:c.5529A>G, XM_017008512.2:c.5529A>G, XM_017008512.1:c.5529A>G, XM_017008513.3:c.5514A>G, XM_017008513.2:c.5514A>G, XM_017008513.1:c.5514A>G, XM_017008514.3:c.5529A>G, XM_017008514.2:c.5529A>G, XM_017008514.1:c.5529A>G, XM_017008515.3:c.5025A>G, XM_017008515.2:c.5025A>G, XM_017008515.1:c.5025A>G, XM_017008516.3:c.5013A>G, XM_017008516.2:c.5013A>G, XM_017008516.1:c.5013A>G, XM_047416036.1:c.5271A>G, XM_047416037.1:c.5010A>G, XM_047416038.1:c.4998A>G, XM_047416039.1:c.5025A>G, XM_047416040.1:c.4968A>G, XM_047416041.1:c.5013A>G, XM_047416042.1:c.5010A>G, XM_047416043.1:c.4953A>G, XM_047416044.1:c.4968A>G, XM_047416045.1:c.4953A>G, XM_047416046.1:c.4437A>G, XM_047416047.1:c.4452A>G, XM_047416048.1:c.4437A>G

                  9.

                  rs1487925216 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    4:86764596 (GRCh38)
                    4:87685749 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:86764595:T:A
                    Gene:
                    PTPN13 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.86764596T>A, NC_000004.11:g.87685749T>A, NG_029704.1:g.175282T>A, NM_080685.3:c.4021T>A, NM_080685.2:c.4021T>A, NM_080683.3:c.4021T>A, NM_080683.2:c.4021T>A, NM_006264.3:c.3964T>A, NM_006264.2:c.3964T>A, NM_080684.3:c.3448T>A, NM_080684.2:c.3448T>A, XM_011532165.3:c.4021T>A, XM_011532165.2:c.4021T>A, XM_011532165.1:c.4021T>A, XM_017008511.3:c.4021T>A, XM_017008511.2:c.4021T>A, XM_017008511.1:c.4021T>A, XM_017008512.3:c.3964T>A, XM_017008512.2:c.3964T>A, XM_017008512.1:c.3964T>A, XM_017008513.3:c.3964T>A, XM_017008513.2:c.3964T>A, XM_017008513.1:c.3964T>A, XM_017008514.3:c.3964T>A, XM_017008514.2:c.3964T>A, XM_017008514.1:c.3964T>A, XM_017008515.3:c.3460T>A, XM_017008515.2:c.3460T>A, XM_017008515.1:c.3460T>A, XM_017008516.3:c.3448T>A, XM_017008516.2:c.3448T>A, XM_017008516.1:c.3448T>A, XM_047416036.1:c.3706T>A, XM_047416037.1:c.3460T>A, XM_047416038.1:c.3448T>A, XM_047416039.1:c.3460T>A, XM_047416040.1:c.3403T>A, XM_047416041.1:c.3448T>A, XM_047416042.1:c.3460T>A, XM_047416043.1:c.3403T>A, XM_047416044.1:c.3403T>A, XM_047416045.1:c.3403T>A, XM_047416046.1:c.2887T>A, XM_047416047.1:c.2887T>A, XM_047416048.1:c.2887T>A, NP_542416.1:p.Ser1341Thr, NP_542414.1:p.Ser1341Thr, NP_006255.1:p.Ser1322Thr, NP_542415.1:p.Ser1150Thr, XP_011530467.1:p.Ser1341Thr, XP_016864000.1:p.Ser1341Thr, XP_016864001.1:p.Ser1322Thr, XP_016864002.1:p.Ser1322Thr, XP_016864003.1:p.Ser1322Thr, XP_016864004.1:p.Ser1154Thr, XP_016864005.1:p.Ser1150Thr, XP_047271992.1:p.Ser1236Thr, XP_047271993.1:p.Ser1154Thr, XP_047271994.1:p.Ser1150Thr, XP_047271995.1:p.Ser1154Thr, XP_047271996.1:p.Ser1135Thr, XP_047271997.1:p.Ser1150Thr, XP_047271998.1:p.Ser1154Thr, XP_047271999.1:p.Ser1135Thr, XP_047272000.1:p.Ser1135Thr, XP_047272001.1:p.Ser1135Thr, XP_047272002.1:p.Ser963Thr, XP_047272003.1:p.Ser963Thr, XP_047272004.1:p.Ser963Thr

                    10.

                    rs1487644204 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      4:86807832 (GRCh38)
                      4:87728985 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:86807831:G:A
                      Gene:
                      PTPN13 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:
                      NC_000004.12:g.86807832G>A, NC_000004.11:g.87728985G>A, NG_029704.1:g.218518G>A, NM_080685.3:c.7033G>A, NM_080685.2:c.7033G>A, NM_080683.3:c.7018G>A, NM_080683.2:c.7018G>A, NM_006264.3:c.6961G>A, NM_006264.2:c.6961G>A, NM_080684.3:c.6445G>A, NM_080684.2:c.6445G>A, XM_011532165.3:c.7084G>A, XM_011532165.2:c.7084G>A, XM_011532165.1:c.7084G>A, XM_017008511.3:c.7069G>A, XM_017008511.2:c.7069G>A, XM_017008511.1:c.7069G>A, XM_017008512.3:c.7027G>A, XM_017008512.2:c.7027G>A, XM_017008512.1:c.7027G>A, XM_017008513.3:c.7012G>A, XM_017008513.2:c.7012G>A, XM_017008513.1:c.7012G>A, XM_017008514.3:c.6976G>A, XM_017008514.2:c.6976G>A, XM_017008514.1:c.6976G>A, XM_017008515.3:c.6523G>A, XM_017008515.2:c.6523G>A, XM_017008515.1:c.6523G>A, XM_017008516.3:c.6511G>A, XM_017008516.2:c.6511G>A, XM_017008516.1:c.6511G>A, XM_047416036.1:c.6769G>A, XM_047416037.1:c.6508G>A, XM_047416038.1:c.6496G>A, XM_047416039.1:c.6472G>A, XM_047416040.1:c.6466G>A, XM_047416041.1:c.6460G>A, XM_047416042.1:c.6457G>A, XM_047416043.1:c.6451G>A, XM_047416044.1:c.6415G>A, XM_047416045.1:c.6400G>A, XM_047416046.1:c.5935G>A, XM_047416047.1:c.5899G>A, XM_047416048.1:c.5884G>A, NP_542416.1:p.Ala2345Thr, NP_542414.1:p.Ala2340Thr, NP_006255.1:p.Ala2321Thr, NP_542415.1:p.Ala2149Thr, XP_011530467.1:p.Ala2362Thr, XP_016864000.1:p.Ala2357Thr, XP_016864001.1:p.Ala2343Thr, XP_016864002.1:p.Ala2338Thr, XP_016864003.1:p.Ala2326Thr, XP_016864004.1:p.Ala2175Thr, XP_016864005.1:p.Ala2171Thr, XP_047271992.1:p.Ala2257Thr, XP_047271993.1:p.Ala2170Thr, XP_047271994.1:p.Ala2166Thr, XP_047271995.1:p.Ala2158Thr, XP_047271996.1:p.Ala2156Thr, XP_047271997.1:p.Ala2154Thr, XP_047271998.1:p.Ala2153Thr, XP_047271999.1:p.Ala2151Thr, XP_047272000.1:p.Ala2139Thr, XP_047272001.1:p.Ala2134Thr, XP_047272002.1:p.Ala1979Thr, XP_047272003.1:p.Ala1967Thr, XP_047272004.1:p.Ala1962Thr

                      11.

                      rs1486696723 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        4:86799128 (GRCh38)
                        4:87720281 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:86799127:G:A
                        Gene:
                        PTPN13 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.00025/4 (TOMMO)
                        HGVS:
                        NC_000004.12:g.86799128G>A, NC_000004.11:g.87720281G>A, NG_029704.1:g.209814G>A, NM_080685.3:c.6444G>A, NM_080685.2:c.6444G>A, NM_080683.3:c.6429G>A, NM_080683.2:c.6429G>A, NM_006264.3:c.6372G>A, NM_006264.2:c.6372G>A, NM_080684.3:c.5856G>A, NM_080684.2:c.5856G>A, XM_011532165.3:c.6495G>A, XM_011532165.2:c.6495G>A, XM_011532165.1:c.6495G>A, XM_017008511.3:c.6480G>A, XM_017008511.2:c.6480G>A, XM_017008511.1:c.6480G>A, XM_017008512.3:c.6438G>A, XM_017008512.2:c.6438G>A, XM_017008512.1:c.6438G>A, XM_017008513.3:c.6423G>A, XM_017008513.2:c.6423G>A, XM_017008513.1:c.6423G>A, XM_017008514.3:c.6387G>A, XM_017008514.2:c.6387G>A, XM_017008514.1:c.6387G>A, XM_017008515.3:c.5934G>A, XM_017008515.2:c.5934G>A, XM_017008515.1:c.5934G>A, XM_017008516.3:c.5922G>A, XM_017008516.2:c.5922G>A, XM_017008516.1:c.5922G>A, XM_047416036.1:c.6180G>A, XM_047416037.1:c.5919G>A, XM_047416038.1:c.5907G>A, XM_047416039.1:c.5883G>A, XM_047416040.1:c.5877G>A, XM_047416041.1:c.5871G>A, XM_047416042.1:c.5868G>A, XM_047416043.1:c.5862G>A, XM_047416044.1:c.5826G>A, XM_047416045.1:c.5811G>A, XM_047416046.1:c.5346G>A, XM_047416047.1:c.5310G>A, XM_047416048.1:c.5295G>A

                        12.

                        rs1486470834 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          4:86809857 (GRCh38)
                          4:87731010 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:86809856:T:C
                          Gene:
                          PTPN13 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.86809857T>C, NC_000004.11:g.87731010T>C, NG_029704.1:g.220543T>C, NM_080685.3:c.7187T>C, NM_080685.2:c.7187T>C, NM_080683.3:c.7172T>C, NM_080683.2:c.7172T>C, NM_006264.3:c.7115T>C, NM_006264.2:c.7115T>C, NM_080684.3:c.6599T>C, NM_080684.2:c.6599T>C, XM_011532165.3:c.7238T>C, XM_011532165.2:c.7238T>C, XM_011532165.1:c.7238T>C, XM_017008511.3:c.7223T>C, XM_017008511.2:c.7223T>C, XM_017008511.1:c.7223T>C, XM_017008512.3:c.7181T>C, XM_017008512.2:c.7181T>C, XM_017008512.1:c.7181T>C, XM_017008513.3:c.7166T>C, XM_017008513.2:c.7166T>C, XM_017008513.1:c.7166T>C, XM_017008514.3:c.7130T>C, XM_017008514.2:c.7130T>C, XM_017008514.1:c.7130T>C, XM_017008515.3:c.6677T>C, XM_017008515.2:c.6677T>C, XM_017008515.1:c.6677T>C, XM_017008516.3:c.6665T>C, XM_017008516.2:c.6665T>C, XM_017008516.1:c.6665T>C, XM_047416036.1:c.6923T>C, XM_047416037.1:c.6662T>C, XM_047416038.1:c.6650T>C, XM_047416039.1:c.6626T>C, XM_047416040.1:c.6620T>C, XM_047416041.1:c.6614T>C, XM_047416042.1:c.6611T>C, XM_047416043.1:c.6605T>C, XM_047416044.1:c.6569T>C, XM_047416045.1:c.6554T>C, XM_047416046.1:c.6089T>C, XM_047416047.1:c.6053T>C, XM_047416048.1:c.6038T>C, NP_542416.1:p.Phe2396Ser, NP_542414.1:p.Phe2391Ser, NP_006255.1:p.Phe2372Ser, NP_542415.1:p.Phe2200Ser, XP_011530467.1:p.Phe2413Ser, XP_016864000.1:p.Phe2408Ser, XP_016864001.1:p.Phe2394Ser, XP_016864002.1:p.Phe2389Ser, XP_016864003.1:p.Phe2377Ser, XP_016864004.1:p.Phe2226Ser, XP_016864005.1:p.Phe2222Ser, XP_047271992.1:p.Phe2308Ser, XP_047271993.1:p.Phe2221Ser, XP_047271994.1:p.Phe2217Ser, XP_047271995.1:p.Phe2209Ser, XP_047271996.1:p.Phe2207Ser, XP_047271997.1:p.Phe2205Ser, XP_047271998.1:p.Phe2204Ser, XP_047271999.1:p.Phe2202Ser, XP_047272000.1:p.Phe2190Ser, XP_047272001.1:p.Phe2185Ser, XP_047272002.1:p.Phe2030Ser, XP_047272003.1:p.Phe2018Ser, XP_047272004.1:p.Phe2013Ser

                          13.

                          rs1486303400 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            4:86732712 (GRCh38)
                            4:87653865 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:86732711:G:A
                            Gene:
                            PTPN13 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000004.12:g.86732712G>A, NC_000004.11:g.87653865G>A, NG_029704.1:g.143398G>A, NM_080685.3:c.1804G>A, NM_080685.2:c.1804G>A, NM_080683.3:c.1804G>A, NM_080683.2:c.1804G>A, NM_006264.3:c.1804G>A, NM_006264.2:c.1804G>A, NM_080684.3:c.1804G>A, NM_080684.2:c.1804G>A, XM_011532165.3:c.1804G>A, XM_011532165.2:c.1804G>A, XM_011532165.1:c.1804G>A, XM_017008511.3:c.1804G>A, XM_017008511.2:c.1804G>A, XM_017008511.1:c.1804G>A, XM_017008512.3:c.1804G>A, XM_017008512.2:c.1804G>A, XM_017008512.1:c.1804G>A, XM_017008513.3:c.1804G>A, XM_017008513.2:c.1804G>A, XM_017008513.1:c.1804G>A, XM_017008514.3:c.1804G>A, XM_017008514.2:c.1804G>A, XM_017008514.1:c.1804G>A, XM_017008515.3:c.1243G>A, XM_017008515.2:c.1243G>A, XM_017008515.1:c.1243G>A, XM_017008516.3:c.1804G>A, XM_017008516.2:c.1804G>A, XM_017008516.1:c.1804G>A, XM_047416036.1:c.1489G>A, XM_047416037.1:c.1243G>A, XM_047416038.1:c.1804G>A, XM_047416039.1:c.1243G>A, XM_047416040.1:c.1243G>A, XM_047416041.1:c.1804G>A, XM_047416042.1:c.1243G>A, XM_047416043.1:c.1243G>A, XM_047416044.1:c.1243G>A, XM_047416045.1:c.1243G>A, XM_047416046.1:c.1243G>A, XM_047416047.1:c.1243G>A, XM_047416048.1:c.1243G>A, NP_542416.1:p.Val602Met, NP_542414.1:p.Val602Met, NP_006255.1:p.Val602Met, NP_542415.1:p.Val602Met, XP_011530467.1:p.Val602Met, XP_016864000.1:p.Val602Met, XP_016864001.1:p.Val602Met, XP_016864002.1:p.Val602Met, XP_016864003.1:p.Val602Met, XP_016864004.1:p.Val415Met, XP_016864005.1:p.Val602Met, XP_047271992.1:p.Val497Met, XP_047271993.1:p.Val415Met, XP_047271994.1:p.Val602Met, XP_047271995.1:p.Val415Met, XP_047271996.1:p.Val415Met, XP_047271997.1:p.Val602Met, XP_047271998.1:p.Val415Met, XP_047271999.1:p.Val415Met, XP_047272000.1:p.Val415Met, XP_047272001.1:p.Val415Met, XP_047272002.1:p.Val415Met, XP_047272003.1:p.Val415Met, XP_047272004.1:p.Val415Met

                            14.

                            rs1485521176 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              4:86701551 (GRCh38)
                              4:87622704 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:86701550:A:G
                              Gene:
                              PTPN13 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1484592606 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                4:86751093 (GRCh38)
                                4:87672246 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:86751092:C:T
                                Gene:
                                PTPN13 (Varview)
                                Functional Consequence:
                                intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000004.12:g.86751093C>T, NC_000004.11:g.87672246C>T, NG_029704.1:g.161779C>T, NM_080685.3:c.3135C>T, NM_080685.2:c.3135C>T, NM_080683.3:c.3135C>T, NM_080683.2:c.3135C>T, NM_006264.3:c.3135C>T, NM_006264.2:c.3135C>T, XM_011532165.3:c.3135C>T, XM_011532165.2:c.3135C>T, XM_011532165.1:c.3135C>T, XM_017008511.3:c.3135C>T, XM_017008511.2:c.3135C>T, XM_017008511.1:c.3135C>T, XM_017008512.3:c.3135C>T, XM_017008512.2:c.3135C>T, XM_017008512.1:c.3135C>T, XM_017008513.3:c.3135C>T, XM_017008513.2:c.3135C>T, XM_017008513.1:c.3135C>T, XM_017008514.3:c.3135C>T, XM_017008514.2:c.3135C>T, XM_017008514.1:c.3135C>T, XM_017008515.3:c.2574C>T, XM_017008515.2:c.2574C>T, XM_017008515.1:c.2574C>T, XM_047416036.1:c.2820C>T, XM_047416037.1:c.2574C>T, XM_047416039.1:c.2574C>T, XM_047416040.1:c.2574C>T, XM_047416042.1:c.2574C>T, XM_047416043.1:c.2574C>T, XM_047416044.1:c.2574C>T, XM_047416045.1:c.2574C>T

                                16.

                                rs1484260010 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  4:86734303 (GRCh38)
                                  4:87655456 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:86734302:A:G
                                  Gene:
                                  PTPN13 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000004.12:g.86734303A>G, NC_000004.11:g.87655456A>G, NG_029704.1:g.144989A>G, NM_080685.3:c.1859A>G, NM_080685.2:c.1859A>G, NM_080683.3:c.1859A>G, NM_080683.2:c.1859A>G, NM_006264.3:c.1859A>G, NM_006264.2:c.1859A>G, NM_080684.3:c.1859A>G, NM_080684.2:c.1859A>G, XM_011532165.3:c.1859A>G, XM_011532165.2:c.1859A>G, XM_011532165.1:c.1859A>G, XM_017008511.3:c.1859A>G, XM_017008511.2:c.1859A>G, XM_017008511.1:c.1859A>G, XM_017008512.3:c.1859A>G, XM_017008512.2:c.1859A>G, XM_017008512.1:c.1859A>G, XM_017008513.3:c.1859A>G, XM_017008513.2:c.1859A>G, XM_017008513.1:c.1859A>G, XM_017008514.3:c.1859A>G, XM_017008514.2:c.1859A>G, XM_017008514.1:c.1859A>G, XM_017008515.3:c.1298A>G, XM_017008515.2:c.1298A>G, XM_017008515.1:c.1298A>G, XM_017008516.3:c.1859A>G, XM_017008516.2:c.1859A>G, XM_017008516.1:c.1859A>G, XM_047416036.1:c.1544A>G, XM_047416037.1:c.1298A>G, XM_047416038.1:c.1859A>G, XM_047416039.1:c.1298A>G, XM_047416040.1:c.1298A>G, XM_047416041.1:c.1859A>G, XM_047416042.1:c.1298A>G, XM_047416043.1:c.1298A>G, XM_047416044.1:c.1298A>G, XM_047416045.1:c.1298A>G, XM_047416046.1:c.1298A>G, XM_047416047.1:c.1298A>G, XM_047416048.1:c.1298A>G, NP_542416.1:p.Asp620Gly, NP_542414.1:p.Asp620Gly, NP_006255.1:p.Asp620Gly, NP_542415.1:p.Asp620Gly, XP_011530467.1:p.Asp620Gly, XP_016864000.1:p.Asp620Gly, XP_016864001.1:p.Asp620Gly, XP_016864002.1:p.Asp620Gly, XP_016864003.1:p.Asp620Gly, XP_016864004.1:p.Asp433Gly, XP_016864005.1:p.Asp620Gly, XP_047271992.1:p.Asp515Gly, XP_047271993.1:p.Asp433Gly, XP_047271994.1:p.Asp620Gly, XP_047271995.1:p.Asp433Gly, XP_047271996.1:p.Asp433Gly, XP_047271997.1:p.Asp620Gly, XP_047271998.1:p.Asp433Gly, XP_047271999.1:p.Asp433Gly, XP_047272000.1:p.Asp433Gly, XP_047272001.1:p.Asp433Gly, XP_047272002.1:p.Asp433Gly, XP_047272003.1:p.Asp433Gly, XP_047272004.1:p.Asp433Gly

                                  17.

                                  rs1484043659 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    4:86745105 (GRCh38)
                                    4:87666258 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:86745104:G:A,NC_000004.12:86745104:G:C
                                    Gene:
                                    PTPN13 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000019/5 (TOPMED)
                                    HGVS:
                                    NC_000004.12:g.86745105G>A, NC_000004.12:g.86745105G>C, NC_000004.11:g.87666258G>A, NC_000004.11:g.87666258G>C, NG_029704.1:g.155791G>A, NG_029704.1:g.155791G>C, NM_080685.3:c.2627G>A, NM_080685.3:c.2627G>C, NM_080685.2:c.2627G>A, NM_080685.2:c.2627G>C, NM_080683.3:c.2627G>A, NM_080683.3:c.2627G>C, NM_080683.2:c.2627G>A, NM_080683.2:c.2627G>C, NM_006264.3:c.2627G>A, NM_006264.3:c.2627G>C, NM_006264.2:c.2627G>A, NM_006264.2:c.2627G>C, NM_080684.3:c.2627G>A, NM_080684.3:c.2627G>C, NM_080684.2:c.2627G>A, NM_080684.2:c.2627G>C, XM_011532165.3:c.2627G>A, XM_011532165.3:c.2627G>C, XM_011532165.2:c.2627G>A, XM_011532165.2:c.2627G>C, XM_011532165.1:c.2627G>A, XM_011532165.1:c.2627G>C, XM_017008511.3:c.2627G>A, XM_017008511.3:c.2627G>C, XM_017008511.2:c.2627G>A, XM_017008511.2:c.2627G>C, XM_017008511.1:c.2627G>A, XM_017008511.1:c.2627G>C, XM_017008512.3:c.2627G>A, XM_017008512.3:c.2627G>C, XM_017008512.2:c.2627G>A, XM_017008512.2:c.2627G>C, XM_017008512.1:c.2627G>A, XM_017008512.1:c.2627G>C, XM_017008513.3:c.2627G>A, XM_017008513.3:c.2627G>C, XM_017008513.2:c.2627G>A, XM_017008513.2:c.2627G>C, XM_017008513.1:c.2627G>A, XM_017008513.1:c.2627G>C, XM_017008514.3:c.2627G>A, XM_017008514.3:c.2627G>C, XM_017008514.2:c.2627G>A, XM_017008514.2:c.2627G>C, XM_017008514.1:c.2627G>A, XM_017008514.1:c.2627G>C, XM_017008515.3:c.2066G>A, XM_017008515.3:c.2066G>C, XM_017008515.2:c.2066G>A, XM_017008515.2:c.2066G>C, XM_017008515.1:c.2066G>A, XM_017008515.1:c.2066G>C, XM_017008516.3:c.2627G>A, XM_017008516.3:c.2627G>C, XM_017008516.2:c.2627G>A, XM_017008516.2:c.2627G>C, XM_017008516.1:c.2627G>A, XM_017008516.1:c.2627G>C, XM_047416036.1:c.2312G>A, XM_047416036.1:c.2312G>C, XM_047416037.1:c.2066G>A, XM_047416037.1:c.2066G>C, XM_047416038.1:c.2627G>A, XM_047416038.1:c.2627G>C, XM_047416039.1:c.2066G>A, XM_047416039.1:c.2066G>C, XM_047416040.1:c.2066G>A, XM_047416040.1:c.2066G>C, XM_047416041.1:c.2627G>A, XM_047416041.1:c.2627G>C, XM_047416042.1:c.2066G>A, XM_047416042.1:c.2066G>C, XM_047416043.1:c.2066G>A, XM_047416043.1:c.2066G>C, XM_047416044.1:c.2066G>A, XM_047416044.1:c.2066G>C, XM_047416045.1:c.2066G>A, XM_047416045.1:c.2066G>C, XM_047416046.1:c.2066G>A, XM_047416046.1:c.2066G>C, XM_047416047.1:c.2066G>A, XM_047416047.1:c.2066G>C, XM_047416048.1:c.2066G>A, XM_047416048.1:c.2066G>C, NP_542416.1:p.Ser876Asn, NP_542416.1:p.Ser876Thr, NP_542414.1:p.Ser876Asn, NP_542414.1:p.Ser876Thr, NP_006255.1:p.Ser876Asn, NP_006255.1:p.Ser876Thr, NP_542415.1:p.Ser876Asn, NP_542415.1:p.Ser876Thr, XP_011530467.1:p.Ser876Asn, XP_011530467.1:p.Ser876Thr, XP_016864000.1:p.Ser876Asn, XP_016864000.1:p.Ser876Thr, XP_016864001.1:p.Ser876Asn, XP_016864001.1:p.Ser876Thr, XP_016864002.1:p.Ser876Asn, XP_016864002.1:p.Ser876Thr, XP_016864003.1:p.Ser876Asn, XP_016864003.1:p.Ser876Thr, XP_016864004.1:p.Ser689Asn, XP_016864004.1:p.Ser689Thr, XP_016864005.1:p.Ser876Asn, XP_016864005.1:p.Ser876Thr, XP_047271992.1:p.Ser771Asn, XP_047271992.1:p.Ser771Thr, XP_047271993.1:p.Ser689Asn, XP_047271993.1:p.Ser689Thr, XP_047271994.1:p.Ser876Asn, XP_047271994.1:p.Ser876Thr, XP_047271995.1:p.Ser689Asn, XP_047271995.1:p.Ser689Thr, XP_047271996.1:p.Ser689Asn, XP_047271996.1:p.Ser689Thr, XP_047271997.1:p.Ser876Asn, XP_047271997.1:p.Ser876Thr, XP_047271998.1:p.Ser689Asn, XP_047271998.1:p.Ser689Thr, XP_047271999.1:p.Ser689Asn, XP_047271999.1:p.Ser689Thr, XP_047272000.1:p.Ser689Asn, XP_047272000.1:p.Ser689Thr, XP_047272001.1:p.Ser689Asn, XP_047272001.1:p.Ser689Thr, XP_047272002.1:p.Ser689Asn, XP_047272002.1:p.Ser689Thr, XP_047272003.1:p.Ser689Asn, XP_047272003.1:p.Ser689Thr, XP_047272004.1:p.Ser689Asn, XP_047272004.1:p.Ser689Thr

                                    18.

                                    rs1483938575 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      4:86758772 (GRCh38)
                                      4:87679925 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:86758771:A:T
                                      Gene:
                                      PTPN13 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000011/3 (TOPMED)
                                      T=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000004.12:g.86758772A>T, NC_000004.11:g.87679925A>T, NG_029704.1:g.169458A>T, NM_080685.3:c.3408A>T, NM_080685.2:c.3408A>T, NM_080683.3:c.3408A>T, NM_080683.2:c.3408A>T, NM_006264.3:c.3351A>T, NM_006264.2:c.3351A>T, NM_080684.3:c.2835A>T, NM_080684.2:c.2835A>T, XM_011532165.3:c.3408A>T, XM_011532165.2:c.3408A>T, XM_011532165.1:c.3408A>T, XM_017008511.3:c.3408A>T, XM_017008511.2:c.3408A>T, XM_017008511.1:c.3408A>T, XM_017008512.3:c.3351A>T, XM_017008512.2:c.3351A>T, XM_017008512.1:c.3351A>T, XM_017008513.3:c.3351A>T, XM_017008513.2:c.3351A>T, XM_017008513.1:c.3351A>T, XM_017008514.3:c.3351A>T, XM_017008514.2:c.3351A>T, XM_017008514.1:c.3351A>T, XM_017008515.3:c.2847A>T, XM_017008515.2:c.2847A>T, XM_017008515.1:c.2847A>T, XM_017008516.3:c.2835A>T, XM_017008516.2:c.2835A>T, XM_017008516.1:c.2835A>T, XM_047416036.1:c.3093A>T, XM_047416037.1:c.2847A>T, XM_047416038.1:c.2835A>T, XM_047416039.1:c.2847A>T, XM_047416040.1:c.2790A>T, XM_047416041.1:c.2835A>T, XM_047416042.1:c.2847A>T, XM_047416043.1:c.2790A>T, XM_047416044.1:c.2790A>T, XM_047416045.1:c.2790A>T, XM_047416046.1:c.2274A>T, XM_047416047.1:c.2274A>T, XM_047416048.1:c.2274A>T

                                      19.

                                      rs1483613101 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        4:86745103 (GRCh38)
                                        4:87666256 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:86745102:G:A
                                        Gene:
                                        PTPN13 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000004.12:g.86745103G>A, NC_000004.11:g.87666256G>A, NG_029704.1:g.155789G>A, NM_080685.3:c.2625G>A, NM_080685.2:c.2625G>A, NM_080683.3:c.2625G>A, NM_080683.2:c.2625G>A, NM_006264.3:c.2625G>A, NM_006264.2:c.2625G>A, NM_080684.3:c.2625G>A, NM_080684.2:c.2625G>A, XM_011532165.3:c.2625G>A, XM_011532165.2:c.2625G>A, XM_011532165.1:c.2625G>A, XM_017008511.3:c.2625G>A, XM_017008511.2:c.2625G>A, XM_017008511.1:c.2625G>A, XM_017008512.3:c.2625G>A, XM_017008512.2:c.2625G>A, XM_017008512.1:c.2625G>A, XM_017008513.3:c.2625G>A, XM_017008513.2:c.2625G>A, XM_017008513.1:c.2625G>A, XM_017008514.3:c.2625G>A, XM_017008514.2:c.2625G>A, XM_017008514.1:c.2625G>A, XM_017008515.3:c.2064G>A, XM_017008515.2:c.2064G>A, XM_017008515.1:c.2064G>A, XM_017008516.3:c.2625G>A, XM_017008516.2:c.2625G>A, XM_017008516.1:c.2625G>A, XM_047416036.1:c.2310G>A, XM_047416037.1:c.2064G>A, XM_047416038.1:c.2625G>A, XM_047416039.1:c.2064G>A, XM_047416040.1:c.2064G>A, XM_047416041.1:c.2625G>A, XM_047416042.1:c.2064G>A, XM_047416043.1:c.2064G>A, XM_047416044.1:c.2064G>A, XM_047416045.1:c.2064G>A, XM_047416046.1:c.2064G>A, XM_047416047.1:c.2064G>A, XM_047416048.1:c.2064G>A

                                        20.

                                        rs1483234313 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          4:86701273 (GRCh38)
                                          4:87622426 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:86701272:C:T
                                          Gene:
                                          PTPN13 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,stop_gained
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000009/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000004.12:g.86701273C>T, NC_000004.11:g.87622426C>T, NG_029704.1:g.111959C>T, NM_080685.3:c.667C>T, NM_080685.2:c.667C>T, NM_080683.3:c.667C>T, NM_080683.2:c.667C>T, NM_006264.3:c.667C>T, NM_006264.2:c.667C>T, NM_080684.3:c.667C>T, NM_080684.2:c.667C>T, XM_011532165.3:c.667C>T, XM_011532165.2:c.667C>T, XM_011532165.1:c.667C>T, XM_017008511.3:c.667C>T, XM_017008511.2:c.667C>T, XM_017008511.1:c.667C>T, XM_017008512.3:c.667C>T, XM_017008512.2:c.667C>T, XM_017008512.1:c.667C>T, XM_017008513.3:c.667C>T, XM_017008513.2:c.667C>T, XM_017008513.1:c.667C>T, XM_017008514.3:c.667C>T, XM_017008514.2:c.667C>T, XM_017008514.1:c.667C>T, XM_017008516.3:c.667C>T, XM_017008516.2:c.667C>T, XM_017008516.1:c.667C>T, XM_047416036.1:c.352C>T, XM_047416038.1:c.667C>T, XM_047416041.1:c.667C>T, NP_542416.1:p.Gln223Ter, NP_542414.1:p.Gln223Ter, NP_006255.1:p.Gln223Ter, NP_542415.1:p.Gln223Ter, XP_011530467.1:p.Gln223Ter, XP_016864000.1:p.Gln223Ter, XP_016864001.1:p.Gln223Ter, XP_016864002.1:p.Gln223Ter, XP_016864003.1:p.Gln223Ter, XP_016864005.1:p.Gln223Ter, XP_047271992.1:p.Gln118Ter, XP_047271994.1:p.Gln223Ter, XP_047271997.1:p.Gln223Ter

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