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Items: 1 to 20 of 1160

1.

rs1490550881 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    9:6880055 (GRCh38)
    9:6880055 (GRCh37)
    Canonical SPDI:
    NC_000009.12:6880054:G:A
    Gene:
    KDM4C (Varview)
    Functional Consequence:
    missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000009.12:g.6880055G>A, NC_000009.11:g.6880055G>A, NM_015061.6:c.673G>A, NM_015061.5:c.673G>A, NM_015061.4:c.673G>A, NM_015061.3:c.673G>A, NM_001304339.4:c.673G>A, NM_001304339.3:c.673G>A, NM_001304339.2:c.673G>A, NM_001304339.1:c.673G>A, NM_001304340.4:c.130G>A, NM_001304340.3:c.130G>A, NM_001304340.2:c.130G>A, NM_001304340.1:c.130G>A, NR_130707.4:n.921G>A, NR_130707.3:n.1505G>A, NR_130707.2:n.1544G>A, NR_130707.1:n.1253G>A, NM_001146695.4:c.673G>A, NM_001146695.3:c.673G>A, NM_001146695.2:c.673G>A, NM_001146695.1:c.673G>A, NM_001353999.3:c.-1563G>A, NM_001353999.2:c.-1563G>A, NM_001353999.1:c.-1563G>A, NM_001354001.3:c.-1563G>A, NM_001354001.2:c.-1563G>A, NM_001354001.1:c.-1563G>A, NR_148679.3:n.921G>A, NR_148679.2:n.1505G>A, NR_148679.1:n.1544G>A, NR_148680.3:n.921G>A, NR_148680.2:n.1505G>A, NR_148680.1:n.1544G>A, NM_001354000.3:c.-776G>A, NM_001354000.2:c.-776G>A, NM_001354000.1:c.-776G>A, NM_001353997.3:c.673G>A, NM_001353997.2:c.673G>A, NM_001353997.1:c.673G>A, NR_148677.3:n.921G>A, NR_148677.2:n.1505G>A, NR_148677.1:n.1544G>A, NR_148678.3:n.921G>A, NR_148678.2:n.1505G>A, NR_148678.1:n.1544G>A, XM_017014498.3:c.673G>A, XM_017014498.2:c.673G>A, XM_017014498.1:c.673G>A, NM_001353998.3:c.673G>A, NM_001353998.2:c.673G>A, NM_001353998.1:c.673G>A, XR_001746255.3:n.921G>A, XR_001746255.2:n.1250G>A, XR_001746255.1:n.922G>A, NM_001146696.2:c.739G>A, NM_001146696.1:c.739G>A, NM_001146694.1:c.673G>A, XM_047423026.1:c.130G>A, XM_047423029.1:c.130G>A, XM_047423027.1:c.130G>A, XM_047423028.1:c.64G>A, NP_055876.2:p.Ala225Thr, NP_001291268.1:p.Ala225Thr, NP_001291269.1:p.Ala44Thr, NP_001140167.1:p.Ala225Thr, NP_001340926.1:p.Ala225Thr, XP_016869987.1:p.Ala225Thr, NP_001340927.1:p.Ala225Thr, NP_001140168.1:p.Ala247Thr, XP_047278982.1:p.Ala44Thr, XP_047278985.1:p.Ala44Thr, XP_047278983.1:p.Ala44Thr, XP_047278984.1:p.Ala22Thr

    2.

    rs1489216785 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      9:7128188 (GRCh38)
      9:7128188 (GRCh37)
      Canonical SPDI:
      NC_000009.12:7128187:G:C
      Gene:
      KDM4C (Varview)
      Functional Consequence:
      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.7128188G>C, NC_000009.11:g.7128188G>C, NM_015061.6:c.2733G>C, NM_015061.5:c.2733G>C, NM_015061.4:c.2733G>C, NM_015061.3:c.2733G>C, NM_001304339.4:c.2733G>C, NM_001304339.3:c.2733G>C, NM_001304339.2:c.2733G>C, NM_001304339.1:c.2733G>C, NM_001304340.4:c.1968G>C, NM_001304340.3:c.1968G>C, NM_001304340.2:c.1968G>C, NM_001304340.1:c.1968G>C, NM_001353999.3:c.1521G>C, NM_001353999.2:c.1521G>C, NM_001353999.1:c.1521G>C, NM_001354001.3:c.1422G>C, NM_001354001.2:c.1422G>C, NM_001354001.1:c.1422G>C, NR_148679.3:n.3891G>C, NR_148679.2:n.4475G>C, NR_148679.1:n.4514G>C, NR_148680.3:n.3796G>C, NR_148680.2:n.4380G>C, NR_148680.1:n.4419G>C, NM_001354000.3:c.1422G>C, NM_001354000.2:c.1422G>C, NM_001354000.1:c.1422G>C, NM_001353997.3:c.2832G>C, NM_001353997.2:c.2832G>C, NM_001353997.1:c.2832G>C, NR_148677.3:n.2971G>C, NR_148677.2:n.3555G>C, NR_148677.1:n.3594G>C, NR_148678.3:n.2872G>C, NR_148678.2:n.3456G>C, NR_148678.1:n.3495G>C, NM_001146694.1:c.2733G>C, XM_047423026.1:c.2289G>C, XM_047423029.1:c.2289G>C, XM_047423027.1:c.2289G>C, XM_047423028.1:c.2223G>C, XM_047423030.1:c.1893G>C, NP_055876.2:p.Met911Ile, NP_001291268.1:p.Met911Ile, NP_001291269.1:p.Met656Ile, NP_001340928.1:p.Met507Ile, NP_001340930.1:p.Met474Ile, NP_001340929.1:p.Met474Ile, NP_001340926.1:p.Met944Ile, XP_047278982.1:p.Met763Ile, XP_047278985.1:p.Met763Ile, XP_047278983.1:p.Met763Ile, XP_047278984.1:p.Met741Ile, XP_047278986.1:p.Met631Ile

      3.

      rs1488890540 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        9:7105449 (GRCh38)
        9:7105449 (GRCh37)
        Canonical SPDI:
        NC_000009.12:7105448:T:C
        Gene:
        KDM4C (Varview)
        Functional Consequence:
        intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000007/1 (GnomAD_exomes)
        C=0.000015/4 (TOPMED)
        C=0.000029/4 (GnomAD)
        HGVS:

        4.

        rs1488831245 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          9:6981077 (GRCh38)
          9:6981077 (GRCh37)
          Canonical SPDI:
          NC_000009.12:6981076:A:G
          Gene:
          KDM4C (Varview)
          Functional Consequence:
          5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_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:
          NC_000009.12:g.6981077A>G, NC_000009.11:g.6981077A>G, NM_015061.6:c.1074A>G, NM_015061.5:c.1074A>G, NM_015061.4:c.1074A>G, NM_015061.3:c.1074A>G, NM_001304339.4:c.1074A>G, NM_001304339.3:c.1074A>G, NM_001304339.2:c.1074A>G, NM_001304339.1:c.1074A>G, NM_001304340.4:c.531A>G, NM_001304340.3:c.531A>G, NM_001304340.2:c.531A>G, NM_001304340.1:c.531A>G, NR_130707.4:n.1322A>G, NR_130707.3:n.1906A>G, NR_130707.2:n.1945A>G, NR_130707.1:n.1654A>G, NM_001146695.4:c.1074A>G, NM_001146695.3:c.1074A>G, NM_001146695.2:c.1074A>G, NM_001146695.1:c.1074A>G, NM_001353999.3:c.-1162A>G, NM_001353999.2:c.-1162A>G, NM_001353999.1:c.-1162A>G, NM_001354001.3:c.-1162A>G, NM_001354001.2:c.-1162A>G, NM_001354001.1:c.-1162A>G, NR_148679.3:n.1322A>G, NR_148679.2:n.1906A>G, NR_148679.1:n.1945A>G, NR_148680.3:n.1322A>G, NR_148680.2:n.1906A>G, NR_148680.1:n.1945A>G, NM_001354000.3:c.-375A>G, NM_001354000.2:c.-375A>G, NM_001354000.1:c.-375A>G, NM_001353997.3:c.1074A>G, NM_001353997.2:c.1074A>G, NM_001353997.1:c.1074A>G, NR_148677.3:n.1322A>G, NR_148677.2:n.1906A>G, NR_148677.1:n.1945A>G, NR_148678.3:n.1322A>G, NR_148678.2:n.1906A>G, NR_148678.1:n.1945A>G, XM_017014498.3:c.1074A>G, XM_017014498.2:c.1074A>G, XM_017014498.1:c.1074A>G, NM_001353998.3:c.1074A>G, NM_001353998.2:c.1074A>G, NM_001353998.1:c.1074A>G, XR_001746255.3:n.1322A>G, XR_001746255.2:n.1651A>G, XR_001746255.1:n.1323A>G, NM_001146696.2:c.1140A>G, NM_001146696.1:c.1140A>G, NM_001146694.1:c.1074A>G, XM_047423026.1:c.531A>G, XM_047423029.1:c.531A>G, XM_047423027.1:c.531A>G, XM_047423028.1:c.465A>G, XM_047423030.1:c.135A>G

          5.

          rs1488010616 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            9:6893109 (GRCh38)
            9:6893109 (GRCh37)
            Canonical SPDI:
            NC_000009.12:6893108:T:G
            Gene:
            KDM4C (Varview)
            Functional Consequence:
            5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0./0 (GnomAD)
            HGVS:
            NC_000009.12:g.6893109T>G, NC_000009.11:g.6893109T>G, NM_015061.6:c.798T>G, NM_015061.5:c.798T>G, NM_015061.4:c.798T>G, NM_015061.3:c.798T>G, NM_001304339.4:c.798T>G, NM_001304339.3:c.798T>G, NM_001304339.2:c.798T>G, NM_001304339.1:c.798T>G, NM_001304340.4:c.255T>G, NM_001304340.3:c.255T>G, NM_001304340.2:c.255T>G, NM_001304340.1:c.255T>G, NR_130707.4:n.1046T>G, NR_130707.3:n.1630T>G, NR_130707.2:n.1669T>G, NR_130707.1:n.1378T>G, NM_001146695.4:c.798T>G, NM_001146695.3:c.798T>G, NM_001146695.2:c.798T>G, NM_001146695.1:c.798T>G, NM_001353999.3:c.-1438T>G, NM_001353999.2:c.-1438T>G, NM_001353999.1:c.-1438T>G, NM_001354001.3:c.-1438T>G, NM_001354001.2:c.-1438T>G, NM_001354001.1:c.-1438T>G, NR_148679.3:n.1046T>G, NR_148679.2:n.1630T>G, NR_148679.1:n.1669T>G, NR_148680.3:n.1046T>G, NR_148680.2:n.1630T>G, NR_148680.1:n.1669T>G, NM_001354000.3:c.-651T>G, NM_001354000.2:c.-651T>G, NM_001354000.1:c.-651T>G, NM_001353997.3:c.798T>G, NM_001353997.2:c.798T>G, NM_001353997.1:c.798T>G, NR_148677.3:n.1046T>G, NR_148677.2:n.1630T>G, NR_148677.1:n.1669T>G, NR_148678.3:n.1046T>G, NR_148678.2:n.1630T>G, NR_148678.1:n.1669T>G, XM_017014498.3:c.798T>G, XM_017014498.2:c.798T>G, XM_017014498.1:c.798T>G, NM_001353998.3:c.798T>G, NM_001353998.2:c.798T>G, NM_001353998.1:c.798T>G, XR_001746255.3:n.1046T>G, XR_001746255.2:n.1375T>G, XR_001746255.1:n.1047T>G, NM_001146696.2:c.864T>G, NM_001146696.1:c.864T>G, NM_001146694.1:c.798T>G, XM_047423026.1:c.255T>G, XM_047423029.1:c.255T>G, XM_047423027.1:c.255T>G, XM_047423028.1:c.189T>G

            6.

            rs1486902962 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:6990518 (GRCh38)
              9:6990518 (GRCh37)
              Canonical SPDI:
              NC_000009.12:6990517:G:A
              Gene:
              KDM4C (Varview)
              Functional Consequence:
              intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_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_000009.12:g.6990518G>A, NC_000009.11:g.6990518G>A, NM_015061.6:c.1780G>A, NM_015061.5:c.1780G>A, NM_015061.4:c.1780G>A, NM_015061.3:c.1780G>A, NM_001304339.4:c.1780G>A, NM_001304339.3:c.1780G>A, NM_001304339.2:c.1780G>A, NM_001304339.1:c.1780G>A, NR_130707.4:n.2971G>A, NR_130707.3:n.3555G>A, NR_130707.2:n.3594G>A, NR_130707.1:n.3303G>A, NM_001146695.4:c.1780G>A, NM_001146695.3:c.1780G>A, NM_001146695.2:c.1780G>A, NM_001146695.1:c.1780G>A, NM_001353999.3:c.469G>A, NM_001353999.2:c.469G>A, NM_001353999.1:c.469G>A, NM_001354001.3:c.469G>A, NM_001354001.2:c.469G>A, NM_001354001.1:c.469G>A, NR_148679.3:n.2952G>A, NR_148679.2:n.3536G>A, NR_148679.1:n.3575G>A, NR_148680.3:n.2952G>A, NR_148680.2:n.3536G>A, NR_148680.1:n.3575G>A, NM_001354000.3:c.469G>A, NM_001354000.2:c.469G>A, NM_001354000.1:c.469G>A, NM_001353997.3:c.1780G>A, NM_001353997.2:c.1780G>A, NM_001353997.1:c.1780G>A, NR_148677.3:n.2028G>A, NR_148677.2:n.2612G>A, NR_148677.1:n.2651G>A, NR_148678.3:n.2028G>A, NR_148678.2:n.2612G>A, NR_148678.1:n.2651G>A, XM_017014498.3:c.1780G>A, XM_017014498.2:c.1780G>A, XM_017014498.1:c.1780G>A, NM_001353998.3:c.1780G>A, NM_001353998.2:c.1780G>A, NM_001353998.1:c.1780G>A, XR_001746255.3:n.2028G>A, XR_001746255.2:n.2357G>A, XR_001746255.1:n.2029G>A, NM_001146696.2:c.1846G>A, NM_001146696.1:c.1846G>A, NM_001146694.1:c.1780G>A, XM_047423026.1:c.1237G>A, XM_047423029.1:c.1237G>A, XM_047423027.1:c.1237G>A, XM_047423028.1:c.1171G>A, XM_047423030.1:c.841G>A, NP_055876.2:p.Asp594Asn, NP_001291268.1:p.Asp594Asn, NP_001140167.1:p.Asp594Asn, NP_001340928.1:p.Asp157Asn, NP_001340930.1:p.Asp157Asn, NP_001340929.1:p.Asp157Asn, NP_001340926.1:p.Asp594Asn, XP_016869987.1:p.Asp594Asn, NP_001340927.1:p.Asp594Asn, NP_001140168.1:p.Asp616Asn, XP_047278982.1:p.Asp413Asn, XP_047278985.1:p.Asp413Asn, XP_047278983.1:p.Asp413Asn, XP_047278984.1:p.Asp391Asn, XP_047278986.1:p.Asp281Asn

              7.

              rs1485327371 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                9:7011809 (GRCh38)
                9:7011809 (GRCh37)
                Canonical SPDI:
                NC_000009.12:7011808:A:G,NC_000009.12:7011808:A:T
                Gene:
                KDM4C (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                T=0.000008/2 (GnomAD_exomes)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000009.12:g.7011809A>G, NC_000009.12:g.7011809A>T, NC_000009.11:g.7011809A>G, NC_000009.11:g.7011809A>T, NM_015061.6:c.1898A>G, NM_015061.6:c.1898A>T, NM_015061.5:c.1898A>G, NM_015061.5:c.1898A>T, NM_015061.4:c.1898A>G, NM_015061.4:c.1898A>T, NM_015061.3:c.1898A>G, NM_015061.3:c.1898A>T, NM_001304339.4:c.1898A>G, NM_001304339.4:c.1898A>T, NM_001304339.3:c.1898A>G, NM_001304339.3:c.1898A>T, NM_001304339.2:c.1898A>G, NM_001304339.2:c.1898A>T, NM_001304339.1:c.1898A>G, NM_001304339.1:c.1898A>T, NM_001304340.4:c.1133A>G, NM_001304340.4:c.1133A>T, NM_001304340.3:c.1133A>G, NM_001304340.3:c.1133A>T, NM_001304340.2:c.1133A>G, NM_001304340.2:c.1133A>T, NM_001304340.1:c.1133A>G, NM_001304340.1:c.1133A>T, NR_130707.4:n.3089A>G, NR_130707.4:n.3089A>T, NR_130707.3:n.3673A>G, NR_130707.3:n.3673A>T, NR_130707.2:n.3712A>G, NR_130707.2:n.3712A>T, NR_130707.1:n.3421A>G, NR_130707.1:n.3421A>T, NM_001146695.4:c.1898A>G, NM_001146695.4:c.1898A>T, NM_001146695.3:c.1898A>G, NM_001146695.3:c.1898A>T, NM_001146695.2:c.1898A>G, NM_001146695.2:c.1898A>T, NM_001146695.1:c.1898A>G, NM_001146695.1:c.1898A>T, NM_001353999.3:c.587A>G, NM_001353999.3:c.587A>T, NM_001353999.2:c.587A>G, NM_001353999.2:c.587A>T, NM_001353999.1:c.587A>G, NM_001353999.1:c.587A>T, NM_001354001.3:c.587A>G, NM_001354001.3:c.587A>T, NM_001354001.2:c.587A>G, NM_001354001.2:c.587A>T, NM_001354001.1:c.587A>G, NM_001354001.1:c.587A>T, NR_148679.3:n.3070A>G, NR_148679.3:n.3070A>T, NR_148679.2:n.3654A>G, NR_148679.2:n.3654A>T, NR_148679.1:n.3693A>G, NR_148679.1:n.3693A>T, NR_148680.3:n.3070A>G, NR_148680.3:n.3070A>T, NR_148680.2:n.3654A>G, NR_148680.2:n.3654A>T, NR_148680.1:n.3693A>G, NR_148680.1:n.3693A>T, NM_001354000.3:c.587A>G, NM_001354000.3:c.587A>T, NM_001354000.2:c.587A>G, NM_001354000.2:c.587A>T, NM_001354000.1:c.587A>G, NM_001354000.1:c.587A>T, NM_001353997.3:c.1898A>G, NM_001353997.3:c.1898A>T, NM_001353997.2:c.1898A>G, NM_001353997.2:c.1898A>T, NM_001353997.1:c.1898A>G, NM_001353997.1:c.1898A>T, NR_148677.3:n.2146A>G, NR_148677.3:n.2146A>T, NR_148677.2:n.2730A>G, NR_148677.2:n.2730A>T, NR_148677.1:n.2769A>G, NR_148677.1:n.2769A>T, NR_148678.3:n.2146A>G, NR_148678.3:n.2146A>T, NR_148678.2:n.2730A>G, NR_148678.2:n.2730A>T, NR_148678.1:n.2769A>G, NR_148678.1:n.2769A>T, XM_017014498.3:c.1898A>G, XM_017014498.3:c.1898A>T, XM_017014498.2:c.1898A>G, XM_017014498.2:c.1898A>T, XM_017014498.1:c.1898A>G, XM_017014498.1:c.1898A>T, NM_001353998.3:c.1898A>G, NM_001353998.3:c.1898A>T, NM_001353998.2:c.1898A>G, NM_001353998.2:c.1898A>T, NM_001353998.1:c.1898A>G, NM_001353998.1:c.1898A>T, XR_001746255.3:n.2146A>G, XR_001746255.3:n.2146A>T, XR_001746255.2:n.2475A>G, XR_001746255.2:n.2475A>T, XR_001746255.1:n.2147A>G, XR_001746255.1:n.2147A>T, NM_001146696.2:c.1964A>G, NM_001146696.2:c.1964A>T, NM_001146696.1:c.1964A>G, NM_001146696.1:c.1964A>T, NM_001146694.1:c.1898A>G, NM_001146694.1:c.1898A>T, XM_047423026.1:c.1355A>G, XM_047423026.1:c.1355A>T, XM_047423029.1:c.1355A>G, XM_047423029.1:c.1355A>T, XM_047423027.1:c.1355A>G, XM_047423027.1:c.1355A>T, XM_047423028.1:c.1289A>G, XM_047423028.1:c.1289A>T, XM_047423030.1:c.959A>G, XM_047423030.1:c.959A>T, NP_055876.2:p.Glu633Gly, NP_055876.2:p.Glu633Val, NP_001291268.1:p.Glu633Gly, NP_001291268.1:p.Glu633Val, NP_001291269.1:p.Glu378Gly, NP_001291269.1:p.Glu378Val, NP_001140167.1:p.Glu633Gly, NP_001140167.1:p.Glu633Val, NP_001340928.1:p.Glu196Gly, NP_001340928.1:p.Glu196Val, NP_001340930.1:p.Glu196Gly, NP_001340930.1:p.Glu196Val, NP_001340929.1:p.Glu196Gly, NP_001340929.1:p.Glu196Val, NP_001340926.1:p.Glu633Gly, NP_001340926.1:p.Glu633Val, XP_016869987.1:p.Glu633Gly, XP_016869987.1:p.Glu633Val, NP_001340927.1:p.Glu633Gly, NP_001340927.1:p.Glu633Val, NP_001140168.1:p.Glu655Gly, NP_001140168.1:p.Glu655Val, XP_047278982.1:p.Glu452Gly, XP_047278982.1:p.Glu452Val, XP_047278985.1:p.Glu452Gly, XP_047278985.1:p.Glu452Val, XP_047278983.1:p.Glu452Gly, XP_047278983.1:p.Glu452Val, XP_047278984.1:p.Glu430Gly, XP_047278984.1:p.Glu430Val, XP_047278986.1:p.Glu320Gly, XP_047278986.1:p.Glu320Val

                8.

                rs1485267816 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C,T [Show Flanks]
                  Chromosome:
                  9:6986665 (GRCh38)
                  9:6986665 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:6986664:G:C,NC_000009.12:6986664:G:T
                  Gene:
                  KDM4C (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000009.12:g.6986665G>C, NC_000009.12:g.6986665G>T, NC_000009.11:g.6986665G>C, NC_000009.11:g.6986665G>T, NM_015061.6:c.1676G>C, NM_015061.6:c.1676G>T, NM_015061.5:c.1676G>C, NM_015061.5:c.1676G>T, NM_015061.4:c.1676G>C, NM_015061.4:c.1676G>T, NM_015061.3:c.1676G>C, NM_015061.3:c.1676G>T, NM_001304339.4:c.1676G>C, NM_001304339.4:c.1676G>T, NM_001304339.3:c.1676G>C, NM_001304339.3:c.1676G>T, NM_001304339.2:c.1676G>C, NM_001304339.2:c.1676G>T, NM_001304339.1:c.1676G>C, NM_001304339.1:c.1676G>T, NR_130707.4:n.2867G>C, NR_130707.4:n.2867G>T, NR_130707.3:n.3451G>C, NR_130707.3:n.3451G>T, NR_130707.2:n.3490G>C, NR_130707.2:n.3490G>T, NR_130707.1:n.3199G>C, NR_130707.1:n.3199G>T, NM_001146695.4:c.1676G>C, NM_001146695.4:c.1676G>T, NM_001146695.3:c.1676G>C, NM_001146695.3:c.1676G>T, NM_001146695.2:c.1676G>C, NM_001146695.2:c.1676G>T, NM_001146695.1:c.1676G>C, NM_001146695.1:c.1676G>T, NM_001353999.3:c.365G>C, NM_001353999.3:c.365G>T, NM_001353999.2:c.365G>C, NM_001353999.2:c.365G>T, NM_001353999.1:c.365G>C, NM_001353999.1:c.365G>T, NM_001354001.3:c.365G>C, NM_001354001.3:c.365G>T, NM_001354001.2:c.365G>C, NM_001354001.2:c.365G>T, NM_001354001.1:c.365G>C, NM_001354001.1:c.365G>T, NR_148679.3:n.2848G>C, NR_148679.3:n.2848G>T, NR_148679.2:n.3432G>C, NR_148679.2:n.3432G>T, NR_148679.1:n.3471G>C, NR_148679.1:n.3471G>T, NR_148680.3:n.2848G>C, NR_148680.3:n.2848G>T, NR_148680.2:n.3432G>C, NR_148680.2:n.3432G>T, NR_148680.1:n.3471G>C, NR_148680.1:n.3471G>T, NM_001354000.3:c.365G>C, NM_001354000.3:c.365G>T, NM_001354000.2:c.365G>C, NM_001354000.2:c.365G>T, NM_001354000.1:c.365G>C, NM_001354000.1:c.365G>T, NM_001353997.3:c.1676G>C, NM_001353997.3:c.1676G>T, NM_001353997.2:c.1676G>C, NM_001353997.2:c.1676G>T, NM_001353997.1:c.1676G>C, NM_001353997.1:c.1676G>T, NR_148677.3:n.1924G>C, NR_148677.3:n.1924G>T, NR_148677.2:n.2508G>C, NR_148677.2:n.2508G>T, NR_148677.1:n.2547G>C, NR_148677.1:n.2547G>T, NR_148678.3:n.1924G>C, NR_148678.3:n.1924G>T, NR_148678.2:n.2508G>C, NR_148678.2:n.2508G>T, NR_148678.1:n.2547G>C, NR_148678.1:n.2547G>T, XM_017014498.3:c.1676G>C, XM_017014498.3:c.1676G>T, XM_017014498.2:c.1676G>C, XM_017014498.2:c.1676G>T, XM_017014498.1:c.1676G>C, XM_017014498.1:c.1676G>T, NM_001353998.3:c.1676G>C, NM_001353998.3:c.1676G>T, NM_001353998.2:c.1676G>C, NM_001353998.2:c.1676G>T, NM_001353998.1:c.1676G>C, NM_001353998.1:c.1676G>T, XR_001746255.3:n.1924G>C, XR_001746255.3:n.1924G>T, XR_001746255.2:n.2253G>C, XR_001746255.2:n.2253G>T, XR_001746255.1:n.1925G>C, XR_001746255.1:n.1925G>T, NM_001146696.2:c.1742G>C, NM_001146696.2:c.1742G>T, NM_001146696.1:c.1742G>C, NM_001146696.1:c.1742G>T, NM_001146694.1:c.1676G>C, NM_001146694.1:c.1676G>T, XM_047423026.1:c.1133G>C, XM_047423026.1:c.1133G>T, XM_047423029.1:c.1133G>C, XM_047423029.1:c.1133G>T, XM_047423027.1:c.1133G>C, XM_047423027.1:c.1133G>T, XM_047423028.1:c.1067G>C, XM_047423028.1:c.1067G>T, XM_047423030.1:c.737G>C, XM_047423030.1:c.737G>T, NP_055876.2:p.Ser559Thr, NP_055876.2:p.Ser559Ile, NP_001291268.1:p.Ser559Thr, NP_001291268.1:p.Ser559Ile, NP_001140167.1:p.Ser559Thr, NP_001140167.1:p.Ser559Ile, NP_001340928.1:p.Ser122Thr, NP_001340928.1:p.Ser122Ile, NP_001340930.1:p.Ser122Thr, NP_001340930.1:p.Ser122Ile, NP_001340929.1:p.Ser122Thr, NP_001340929.1:p.Ser122Ile, NP_001340926.1:p.Ser559Thr, NP_001340926.1:p.Ser559Ile, XP_016869987.1:p.Ser559Thr, XP_016869987.1:p.Ser559Ile, NP_001340927.1:p.Ser559Thr, NP_001340927.1:p.Ser559Ile, NP_001140168.1:p.Ser581Thr, NP_001140168.1:p.Ser581Ile, XP_047278982.1:p.Ser378Thr, XP_047278982.1:p.Ser378Ile, XP_047278985.1:p.Ser378Thr, XP_047278985.1:p.Ser378Ile, XP_047278983.1:p.Ser378Thr, XP_047278983.1:p.Ser378Ile, XP_047278984.1:p.Ser356Thr, XP_047278984.1:p.Ser356Ile, XP_047278986.1:p.Ser246Thr, XP_047278986.1:p.Ser246Ile

                  9.

                  rs1484924136 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>G [Show Flanks]
                    Chromosome:
                    9:6814689 (GRCh38)
                    9:6814689 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:6814688:T:G
                    Gene:
                    KDM4C (Varview)
                    Functional Consequence:
                    missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.6814689T>G, NC_000009.11:g.6814689T>G, NM_015061.6:c.379T>G, NM_015061.5:c.379T>G, NM_015061.4:c.379T>G, NM_015061.3:c.379T>G, NM_001304339.4:c.379T>G, NM_001304339.3:c.379T>G, NM_001304339.2:c.379T>G, NM_001304339.1:c.379T>G, NM_001304340.4:c.-165T>G, NM_001304340.3:c.-165T>G, NM_001304340.2:c.-165T>G, NM_001304340.1:c.-165T>G, NR_130707.4:n.627T>G, NR_130707.3:n.1211T>G, NR_130707.2:n.1250T>G, NR_130707.1:n.959T>G, NM_001146695.4:c.379T>G, NM_001146695.3:c.379T>G, NM_001146695.2:c.379T>G, NM_001146695.1:c.379T>G, NM_001304341.4:c.379T>G, NM_001304341.3:c.379T>G, NM_001304341.2:c.379T>G, NM_001304341.1:c.379T>G, NM_001353999.3:c.-1857T>G, NM_001353999.2:c.-1857T>G, NM_001353999.1:c.-1857T>G, NM_001354001.3:c.-1857T>G, NM_001354001.2:c.-1857T>G, NM_001354001.1:c.-1857T>G, NR_148679.3:n.627T>G, NR_148679.2:n.1211T>G, NR_148679.1:n.1250T>G, NR_148680.3:n.627T>G, NR_148680.2:n.1211T>G, NR_148680.1:n.1250T>G, NM_001354000.3:c.-1070T>G, NM_001354000.2:c.-1070T>G, NM_001354000.1:c.-1070T>G, NM_001353997.3:c.379T>G, NM_001353997.2:c.379T>G, NM_001353997.1:c.379T>G, NR_148677.3:n.627T>G, NR_148677.2:n.1211T>G, NR_148677.1:n.1250T>G, NR_148678.3:n.627T>G, NR_148678.2:n.1211T>G, NR_148678.1:n.1250T>G, XM_017014498.3:c.379T>G, XM_017014498.2:c.379T>G, XM_017014498.1:c.379T>G, NM_001353998.3:c.379T>G, NM_001353998.2:c.379T>G, NM_001353998.1:c.379T>G, XR_001746255.3:n.627T>G, XR_001746255.2:n.956T>G, XR_001746255.1:n.628T>G, NM_001146696.2:c.445T>G, NM_001146696.1:c.445T>G, NM_001146694.1:c.379T>G, XM_047423029.1:c.-165T>G, NP_055876.2:p.Leu127Val, NP_001291268.1:p.Leu127Val, NP_001140167.1:p.Leu127Val, NP_001291270.1:p.Leu127Val, NP_001340926.1:p.Leu127Val, XP_016869987.1:p.Leu127Val, NP_001340927.1:p.Leu127Val, NP_001140168.1:p.Leu149Val

                    10.

                    rs1484609209 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      9:7011804 (GRCh38)
                      9:7011804 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:7011803:G:A
                      Gene:
                      KDM4C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000009.12:g.7011804G>A, NC_000009.11:g.7011804G>A, NM_015061.6:c.1893G>A, NM_015061.5:c.1893G>A, NM_015061.4:c.1893G>A, NM_015061.3:c.1893G>A, NM_001304339.4:c.1893G>A, NM_001304339.3:c.1893G>A, NM_001304339.2:c.1893G>A, NM_001304339.1:c.1893G>A, NM_001304340.4:c.1128G>A, NM_001304340.3:c.1128G>A, NM_001304340.2:c.1128G>A, NM_001304340.1:c.1128G>A, NR_130707.4:n.3084G>A, NR_130707.3:n.3668G>A, NR_130707.2:n.3707G>A, NR_130707.1:n.3416G>A, NM_001146695.4:c.1893G>A, NM_001146695.3:c.1893G>A, NM_001146695.2:c.1893G>A, NM_001146695.1:c.1893G>A, NM_001353999.3:c.582G>A, NM_001353999.2:c.582G>A, NM_001353999.1:c.582G>A, NM_001354001.3:c.582G>A, NM_001354001.2:c.582G>A, NM_001354001.1:c.582G>A, NR_148679.3:n.3065G>A, NR_148679.2:n.3649G>A, NR_148679.1:n.3688G>A, NR_148680.3:n.3065G>A, NR_148680.2:n.3649G>A, NR_148680.1:n.3688G>A, NM_001354000.3:c.582G>A, NM_001354000.2:c.582G>A, NM_001354000.1:c.582G>A, NM_001353997.3:c.1893G>A, NM_001353997.2:c.1893G>A, NM_001353997.1:c.1893G>A, NR_148677.3:n.2141G>A, NR_148677.2:n.2725G>A, NR_148677.1:n.2764G>A, NR_148678.3:n.2141G>A, NR_148678.2:n.2725G>A, NR_148678.1:n.2764G>A, XM_017014498.3:c.1893G>A, XM_017014498.2:c.1893G>A, XM_017014498.1:c.1893G>A, NM_001353998.3:c.1893G>A, NM_001353998.2:c.1893G>A, NM_001353998.1:c.1893G>A, XR_001746255.3:n.2141G>A, XR_001746255.2:n.2470G>A, XR_001746255.1:n.2142G>A, NM_001146696.2:c.1959G>A, NM_001146696.1:c.1959G>A, NM_001146694.1:c.1893G>A, XM_047423026.1:c.1350G>A, XM_047423029.1:c.1350G>A, XM_047423027.1:c.1350G>A, XM_047423028.1:c.1284G>A, XM_047423030.1:c.954G>A

                      11.

                      rs1480856505 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        9:7011864 (GRCh38)
                        9:7011864 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:7011863:C:G,NC_000009.12:7011863:C:T
                        Gene:
                        KDM4C (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.7011864C>G, NC_000009.12:g.7011864C>T, NC_000009.11:g.7011864C>G, NC_000009.11:g.7011864C>T, NM_015061.6:c.1953C>G, NM_015061.6:c.1953C>T, NM_015061.5:c.1953C>G, NM_015061.5:c.1953C>T, NM_015061.4:c.1953C>G, NM_015061.4:c.1953C>T, NM_015061.3:c.1953C>G, NM_015061.3:c.1953C>T, NM_001304339.4:c.1953C>G, NM_001304339.4:c.1953C>T, NM_001304339.3:c.1953C>G, NM_001304339.3:c.1953C>T, NM_001304339.2:c.1953C>G, NM_001304339.2:c.1953C>T, NM_001304339.1:c.1953C>G, NM_001304339.1:c.1953C>T, NM_001304340.4:c.1188C>G, NM_001304340.4:c.1188C>T, NM_001304340.3:c.1188C>G, NM_001304340.3:c.1188C>T, NM_001304340.2:c.1188C>G, NM_001304340.2:c.1188C>T, NM_001304340.1:c.1188C>G, NM_001304340.1:c.1188C>T, NR_130707.4:n.3144C>G, NR_130707.4:n.3144C>T, NR_130707.3:n.3728C>G, NR_130707.3:n.3728C>T, NR_130707.2:n.3767C>G, NR_130707.2:n.3767C>T, NR_130707.1:n.3476C>G, NR_130707.1:n.3476C>T, NM_001146695.4:c.1953C>G, NM_001146695.4:c.1953C>T, NM_001146695.3:c.1953C>G, NM_001146695.3:c.1953C>T, NM_001146695.2:c.1953C>G, NM_001146695.2:c.1953C>T, NM_001146695.1:c.1953C>G, NM_001146695.1:c.1953C>T, NM_001353999.3:c.642C>G, NM_001353999.3:c.642C>T, NM_001353999.2:c.642C>G, NM_001353999.2:c.642C>T, NM_001353999.1:c.642C>G, NM_001353999.1:c.642C>T, NM_001354001.3:c.642C>G, NM_001354001.3:c.642C>T, NM_001354001.2:c.642C>G, NM_001354001.2:c.642C>T, NM_001354001.1:c.642C>G, NM_001354001.1:c.642C>T, NR_148679.3:n.3125C>G, NR_148679.3:n.3125C>T, NR_148679.2:n.3709C>G, NR_148679.2:n.3709C>T, NR_148679.1:n.3748C>G, NR_148679.1:n.3748C>T, NR_148680.3:n.3125C>G, NR_148680.3:n.3125C>T, NR_148680.2:n.3709C>G, NR_148680.2:n.3709C>T, NR_148680.1:n.3748C>G, NR_148680.1:n.3748C>T, NM_001354000.3:c.642C>G, NM_001354000.3:c.642C>T, NM_001354000.2:c.642C>G, NM_001354000.2:c.642C>T, NM_001354000.1:c.642C>G, NM_001354000.1:c.642C>T, NM_001353997.3:c.1953C>G, NM_001353997.3:c.1953C>T, NM_001353997.2:c.1953C>G, NM_001353997.2:c.1953C>T, NM_001353997.1:c.1953C>G, NM_001353997.1:c.1953C>T, NR_148677.3:n.2201C>G, NR_148677.3:n.2201C>T, NR_148677.2:n.2785C>G, NR_148677.2:n.2785C>T, NR_148677.1:n.2824C>G, NR_148677.1:n.2824C>T, NR_148678.3:n.2201C>G, NR_148678.3:n.2201C>T, NR_148678.2:n.2785C>G, NR_148678.2:n.2785C>T, NR_148678.1:n.2824C>G, NR_148678.1:n.2824C>T, XM_017014498.3:c.1953C>G, XM_017014498.3:c.1953C>T, XM_017014498.2:c.1953C>G, XM_017014498.2:c.1953C>T, XM_017014498.1:c.1953C>G, XM_017014498.1:c.1953C>T, NM_001353998.3:c.1953C>G, NM_001353998.3:c.1953C>T, NM_001353998.2:c.1953C>G, NM_001353998.2:c.1953C>T, NM_001353998.1:c.1953C>G, NM_001353998.1:c.1953C>T, XR_001746255.3:n.2201C>G, XR_001746255.3:n.2201C>T, XR_001746255.2:n.2530C>G, XR_001746255.2:n.2530C>T, XR_001746255.1:n.2202C>G, XR_001746255.1:n.2202C>T, NM_001146696.2:c.2019C>G, NM_001146696.2:c.2019C>T, NM_001146696.1:c.2019C>G, NM_001146696.1:c.2019C>T, NM_001146694.1:c.1953C>G, NM_001146694.1:c.1953C>T, XM_047423026.1:c.1410C>G, XM_047423026.1:c.1410C>T, XM_047423029.1:c.1410C>G, XM_047423029.1:c.1410C>T, XM_047423027.1:c.1410C>G, XM_047423027.1:c.1410C>T, XM_047423028.1:c.1344C>G, XM_047423028.1:c.1344C>T, XM_047423030.1:c.1014C>G, XM_047423030.1:c.1014C>T

                        12.

                        rs1479012485 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          9:7128231 (GRCh38)
                          9:7128231 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:7128230:A:T
                          Gene:
                          KDM4C (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.0002/1 (ALFA)
                          T=0.0002/1 (Estonian)
                          HGVS:
                          NC_000009.12:g.7128231A>T, NC_000009.11:g.7128231A>T, NM_015061.6:c.2776A>T, NM_015061.5:c.2776A>T, NM_015061.4:c.2776A>T, NM_015061.3:c.2776A>T, NM_001304339.4:c.2776A>T, NM_001304339.3:c.2776A>T, NM_001304339.2:c.2776A>T, NM_001304339.1:c.2776A>T, NM_001304340.4:c.2011A>T, NM_001304340.3:c.2011A>T, NM_001304340.2:c.2011A>T, NM_001304340.1:c.2011A>T, NM_001353999.3:c.1564A>T, NM_001353999.2:c.1564A>T, NM_001353999.1:c.1564A>T, NM_001354001.3:c.1465A>T, NM_001354001.2:c.1465A>T, NM_001354001.1:c.1465A>T, NR_148679.3:n.3934A>T, NR_148679.2:n.4518A>T, NR_148679.1:n.4557A>T, NR_148680.3:n.3839A>T, NR_148680.2:n.4423A>T, NR_148680.1:n.4462A>T, NM_001354000.3:c.1465A>T, NM_001354000.2:c.1465A>T, NM_001354000.1:c.1465A>T, NM_001353997.3:c.2875A>T, NM_001353997.2:c.2875A>T, NM_001353997.1:c.2875A>T, NR_148677.3:n.3014A>T, NR_148677.2:n.3598A>T, NR_148677.1:n.3637A>T, NR_148678.3:n.2915A>T, NR_148678.2:n.3499A>T, NR_148678.1:n.3538A>T, NM_001146694.1:c.2776A>T, XM_047423026.1:c.2332A>T, XM_047423029.1:c.2332A>T, XM_047423027.1:c.2332A>T, XM_047423028.1:c.2266A>T, XM_047423030.1:c.1936A>T, NP_055876.2:p.Ile926Phe, NP_001291268.1:p.Ile926Phe, NP_001291269.1:p.Ile671Phe, NP_001340928.1:p.Ile522Phe, NP_001340930.1:p.Ile489Phe, NP_001340929.1:p.Ile489Phe, NP_001340926.1:p.Ile959Phe, XP_047278982.1:p.Ile778Phe, XP_047278985.1:p.Ile778Phe, XP_047278983.1:p.Ile778Phe, XP_047278984.1:p.Ile756Phe, XP_047278986.1:p.Ile646Phe

                          13.

                          rs1478233116 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            9:6805693 (GRCh38)
                            9:6805693 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:6805692:A:T
                            Gene:
                            KDM4C (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000026/7 (TOPMED)
                            HGVS:
                            NC_000009.12:g.6805693A>T, NC_000009.11:g.6805693A>T, NM_015061.6:c.239A>T, NM_015061.5:c.239A>T, NM_015061.4:c.239A>T, NM_015061.3:c.239A>T, NM_001304339.4:c.239A>T, NM_001304339.3:c.239A>T, NM_001304339.2:c.239A>T, NM_001304339.1:c.239A>T, NR_130707.4:n.487A>T, NR_130707.3:n.1071A>T, NR_130707.2:n.1110A>T, NR_130707.1:n.819A>T, NM_001146695.4:c.239A>T, NM_001146695.3:c.239A>T, NM_001146695.2:c.239A>T, NM_001146695.1:c.239A>T, NM_001304341.4:c.239A>T, NM_001304341.3:c.239A>T, NM_001304341.2:c.239A>T, NM_001304341.1:c.239A>T, NM_001353999.3:c.-1997A>T, NM_001353999.2:c.-1997A>T, NM_001353999.1:c.-1997A>T, NM_001354001.3:c.-1997A>T, NM_001354001.2:c.-1997A>T, NM_001354001.1:c.-1997A>T, NR_148679.3:n.487A>T, NR_148679.2:n.1071A>T, NR_148679.1:n.1110A>T, NR_148680.3:n.487A>T, NR_148680.2:n.1071A>T, NR_148680.1:n.1110A>T, NM_001354000.3:c.-1210A>T, NM_001354000.2:c.-1210A>T, NM_001354000.1:c.-1210A>T, NM_001353997.3:c.239A>T, NM_001353997.2:c.239A>T, NM_001353997.1:c.239A>T, NR_148677.3:n.487A>T, NR_148677.2:n.1071A>T, NR_148677.1:n.1110A>T, NR_148678.3:n.487A>T, NR_148678.2:n.1071A>T, NR_148678.1:n.1110A>T, XM_017014498.3:c.239A>T, XM_017014498.2:c.239A>T, XM_017014498.1:c.239A>T, NM_001353998.3:c.239A>T, NM_001353998.2:c.239A>T, NM_001353998.1:c.239A>T, XR_001746255.3:n.487A>T, XR_001746255.2:n.816A>T, XR_001746255.1:n.488A>T, NM_001146696.2:c.305A>T, NM_001146696.1:c.305A>T, NM_001146694.1:c.239A>T, NP_055876.2:p.Gln80Leu, NP_001291268.1:p.Gln80Leu, NP_001140167.1:p.Gln80Leu, NP_001291270.1:p.Gln80Leu, NP_001340926.1:p.Gln80Leu, XP_016869987.1:p.Gln80Leu, NP_001340927.1:p.Gln80Leu, NP_001140168.1:p.Gln102Leu

                            14.

                            rs1476974356 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              9:6893129 (GRCh38)
                              9:6893129 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:6893128:T:A
                              Gene:
                              KDM4C (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.6893129T>A, NC_000009.11:g.6893129T>A, NM_015061.6:c.818T>A, NM_015061.5:c.818T>A, NM_015061.4:c.818T>A, NM_015061.3:c.818T>A, NM_001304339.4:c.818T>A, NM_001304339.3:c.818T>A, NM_001304339.2:c.818T>A, NM_001304339.1:c.818T>A, NM_001304340.4:c.275T>A, NM_001304340.3:c.275T>A, NM_001304340.2:c.275T>A, NM_001304340.1:c.275T>A, NR_130707.4:n.1066T>A, NR_130707.3:n.1650T>A, NR_130707.2:n.1689T>A, NR_130707.1:n.1398T>A, NM_001146695.4:c.818T>A, NM_001146695.3:c.818T>A, NM_001146695.2:c.818T>A, NM_001146695.1:c.818T>A, NM_001353999.3:c.-1418T>A, NM_001353999.2:c.-1418T>A, NM_001353999.1:c.-1418T>A, NM_001354001.3:c.-1418T>A, NM_001354001.2:c.-1418T>A, NM_001354001.1:c.-1418T>A, NR_148679.3:n.1066T>A, NR_148679.2:n.1650T>A, NR_148679.1:n.1689T>A, NR_148680.3:n.1066T>A, NR_148680.2:n.1650T>A, NR_148680.1:n.1689T>A, NM_001354000.3:c.-631T>A, NM_001354000.2:c.-631T>A, NM_001354000.1:c.-631T>A, NM_001353997.3:c.818T>A, NM_001353997.2:c.818T>A, NM_001353997.1:c.818T>A, NR_148677.3:n.1066T>A, NR_148677.2:n.1650T>A, NR_148677.1:n.1689T>A, NR_148678.3:n.1066T>A, NR_148678.2:n.1650T>A, NR_148678.1:n.1689T>A, XM_017014498.3:c.818T>A, XM_017014498.2:c.818T>A, XM_017014498.1:c.818T>A, NM_001353998.3:c.818T>A, NM_001353998.2:c.818T>A, NM_001353998.1:c.818T>A, XR_001746255.3:n.1066T>A, XR_001746255.2:n.1395T>A, XR_001746255.1:n.1067T>A, NM_001146696.2:c.884T>A, NM_001146696.1:c.884T>A, NM_001146694.1:c.818T>A, XM_047423026.1:c.275T>A, XM_047423029.1:c.275T>A, XM_047423027.1:c.275T>A, XM_047423028.1:c.209T>A, NP_055876.2:p.Phe273Tyr, NP_001291268.1:p.Phe273Tyr, NP_001291269.1:p.Phe92Tyr, NP_001140167.1:p.Phe273Tyr, NP_001340926.1:p.Phe273Tyr, XP_016869987.1:p.Phe273Tyr, NP_001340927.1:p.Phe273Tyr, NP_001140168.1:p.Phe295Tyr, XP_047278982.1:p.Phe92Tyr, XP_047278985.1:p.Phe92Tyr, XP_047278983.1:p.Phe92Tyr, XP_047278984.1:p.Phe70Tyr

                              15.

                              rs1476814252 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                9:7049162 (GRCh38)
                                9:7049162 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:7049161:A:G
                                Gene:
                                KDM4C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000009.12:g.7049162A>G, NC_000009.11:g.7049162A>G, NM_015061.6:c.2386A>G, NM_015061.5:c.2386A>G, NM_015061.4:c.2386A>G, NM_015061.3:c.2386A>G, NM_001304339.4:c.2386A>G, NM_001304339.3:c.2386A>G, NM_001304339.2:c.2386A>G, NM_001304339.1:c.2386A>G, NM_001304340.4:c.1621A>G, NM_001304340.3:c.1621A>G, NM_001304340.2:c.1621A>G, NM_001304340.1:c.1621A>G, NM_001146695.4:c.2386A>G, NM_001146695.3:c.2386A>G, NM_001146695.2:c.2386A>G, NM_001146695.1:c.2386A>G, NM_001353999.3:c.1075A>G, NM_001353999.2:c.1075A>G, NM_001353999.1:c.1075A>G, NM_001354001.3:c.1075A>G, NM_001354001.2:c.1075A>G, NM_001354001.1:c.1075A>G, NM_001354000.3:c.1075A>G, NM_001354000.2:c.1075A>G, NM_001354000.1:c.1075A>G, NM_001353997.3:c.2386A>G, NM_001353997.2:c.2386A>G, NM_001353997.1:c.2386A>G, XM_017014498.3:c.2386A>G, XM_017014498.2:c.2386A>G, XM_017014498.1:c.2386A>G, NM_001146696.2:c.2452A>G, NM_001146696.1:c.2452A>G, NM_001146694.1:c.2386A>G, XM_047423026.1:c.1843A>G, XM_047423029.1:c.1843A>G, XM_047423027.1:c.1843A>G, XM_047423028.1:c.1777A>G, XM_047423030.1:c.1447A>G, NP_055876.2:p.Ile796Val, NP_001291268.1:p.Ile796Val, NP_001291269.1:p.Ile541Val, NP_001140167.1:p.Ile796Val, NP_001340928.1:p.Ile359Val, NP_001340930.1:p.Ile359Val, NP_001340929.1:p.Ile359Val, NP_001340926.1:p.Ile796Val, XP_016869987.1:p.Ile796Val, NP_001140168.1:p.Ile818Val, XP_047278982.1:p.Ile615Val, XP_047278985.1:p.Ile615Val, XP_047278983.1:p.Ile615Val, XP_047278984.1:p.Ile593Val, XP_047278986.1:p.Ile483Val

                                16.

                                rs1476406129 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  9:7013791 (GRCh38)
                                  9:7013791 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:7013790:G:T
                                  Gene:
                                  KDM4C (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,splice_acceptor_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.7013791G>T, NC_000009.11:g.7013791G>T, NM_015061.6:c.1972G>T, NM_015061.5:c.1972G>T, NM_015061.4:c.1972G>T, NM_015061.3:c.1972G>T, NM_001304339.4:c.1972G>T, NM_001304339.3:c.1972G>T, NM_001304339.2:c.1972G>T, NM_001304339.1:c.1972G>T, NM_001304340.4:c.1207G>T, NM_001304340.3:c.1207G>T, NM_001304340.2:c.1207G>T, NM_001304340.1:c.1207G>T, NR_130707.4:n.3163G>T, NR_130707.3:n.3747G>T, NR_130707.2:n.3786G>T, NR_130707.1:n.3495G>T, NM_001146695.4:c.1972G>T, NM_001146695.3:c.1972G>T, NM_001146695.2:c.1972G>T, NM_001146695.1:c.1972G>T, NM_001353999.3:c.661G>T, NM_001353999.2:c.661G>T, NM_001353999.1:c.661G>T, NM_001354001.3:c.661G>T, NM_001354001.2:c.661G>T, NM_001354001.1:c.661G>T, NR_148680.3:n.3144G>T, NR_148680.2:n.3728G>T, NR_148680.1:n.3767G>T, NM_001354000.3:c.661G>T, NM_001354000.2:c.661G>T, NM_001354000.1:c.661G>T, NM_001353997.3:c.1972G>T, NM_001353997.2:c.1972G>T, NM_001353997.1:c.1972G>T, NR_148677.3:n.2220G>T, NR_148677.2:n.2804G>T, NR_148677.1:n.2843G>T, NR_148678.3:n.2220G>T, NR_148678.2:n.2804G>T, NR_148678.1:n.2843G>T, XM_017014498.3:c.1972G>T, XM_017014498.2:c.1972G>T, XM_017014498.1:c.1972G>T, NM_001353998.3:c.1972G>T, NM_001353998.2:c.1972G>T, NM_001353998.1:c.1972G>T, XR_001746255.3:n.2220G>T, XR_001746255.2:n.2549G>T, XR_001746255.1:n.2221G>T, NM_001146696.2:c.2038G>T, NM_001146696.1:c.2038G>T, NM_001146694.1:c.1972G>T, XM_047423026.1:c.1429G>T, XM_047423029.1:c.1429G>T, XM_047423027.1:c.1429G>T, XM_047423028.1:c.1363G>T, XM_047423030.1:c.1033G>T, NP_055876.2:p.Asp658Tyr, NP_001291268.1:p.Asp658Tyr, NP_001291269.1:p.Asp403Tyr, NP_001140167.1:p.Asp658Tyr, NP_001340928.1:p.Asp221Tyr, NP_001340930.1:p.Asp221Tyr, NP_001340929.1:p.Asp221Tyr, NP_001340926.1:p.Asp658Tyr, XP_016869987.1:p.Asp658Tyr, NP_001340927.1:p.Asp658Tyr, NP_001140168.1:p.Asp680Tyr, XP_047278982.1:p.Asp477Tyr, XP_047278985.1:p.Asp477Tyr, XP_047278983.1:p.Asp477Tyr, XP_047278984.1:p.Asp455Tyr, XP_047278986.1:p.Asp345Tyr

                                  17.

                                  rs1476281284 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    9:6893141 (GRCh38)
                                    9:6893141 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:6893140:A:G
                                    Gene:
                                    KDM4C (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.6893141A>G, NC_000009.11:g.6893141A>G, NM_015061.6:c.830A>G, NM_015061.5:c.830A>G, NM_015061.4:c.830A>G, NM_015061.3:c.830A>G, NM_001304339.4:c.830A>G, NM_001304339.3:c.830A>G, NM_001304339.2:c.830A>G, NM_001304339.1:c.830A>G, NM_001304340.4:c.287A>G, NM_001304340.3:c.287A>G, NM_001304340.2:c.287A>G, NM_001304340.1:c.287A>G, NR_130707.4:n.1078A>G, NR_130707.3:n.1662A>G, NR_130707.2:n.1701A>G, NR_130707.1:n.1410A>G, NM_001146695.4:c.830A>G, NM_001146695.3:c.830A>G, NM_001146695.2:c.830A>G, NM_001146695.1:c.830A>G, NM_001353999.3:c.-1406A>G, NM_001353999.2:c.-1406A>G, NM_001353999.1:c.-1406A>G, NM_001354001.3:c.-1406A>G, NM_001354001.2:c.-1406A>G, NM_001354001.1:c.-1406A>G, NR_148679.3:n.1078A>G, NR_148679.2:n.1662A>G, NR_148679.1:n.1701A>G, NR_148680.3:n.1078A>G, NR_148680.2:n.1662A>G, NR_148680.1:n.1701A>G, NM_001354000.3:c.-619A>G, NM_001354000.2:c.-619A>G, NM_001354000.1:c.-619A>G, NM_001353997.3:c.830A>G, NM_001353997.2:c.830A>G, NM_001353997.1:c.830A>G, NR_148677.3:n.1078A>G, NR_148677.2:n.1662A>G, NR_148677.1:n.1701A>G, NR_148678.3:n.1078A>G, NR_148678.2:n.1662A>G, NR_148678.1:n.1701A>G, XM_017014498.3:c.830A>G, XM_017014498.2:c.830A>G, XM_017014498.1:c.830A>G, NM_001353998.3:c.830A>G, NM_001353998.2:c.830A>G, NM_001353998.1:c.830A>G, XR_001746255.3:n.1078A>G, XR_001746255.2:n.1407A>G, XR_001746255.1:n.1079A>G, NM_001146696.2:c.896A>G, NM_001146696.1:c.896A>G, NM_001146694.1:c.830A>G, XM_047423026.1:c.287A>G, XM_047423029.1:c.287A>G, XM_047423027.1:c.287A>G, XM_047423028.1:c.221A>G, NP_055876.2:p.Tyr277Cys, NP_001291268.1:p.Tyr277Cys, NP_001291269.1:p.Tyr96Cys, NP_001140167.1:p.Tyr277Cys, NP_001340926.1:p.Tyr277Cys, XP_016869987.1:p.Tyr277Cys, NP_001340927.1:p.Tyr277Cys, NP_001140168.1:p.Tyr299Cys, XP_047278982.1:p.Tyr96Cys, XP_047278985.1:p.Tyr96Cys, XP_047278983.1:p.Tyr96Cys, XP_047278984.1:p.Tyr74Cys

                                    18.

                                    rs1474540607 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:6990491 (GRCh38)
                                      9:6990491 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:6990490:A:G
                                      Gene:
                                      KDM4C (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      G=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.6990491A>G, NC_000009.11:g.6990491A>G, NM_015061.6:c.1753A>G, NM_015061.5:c.1753A>G, NM_015061.4:c.1753A>G, NM_015061.3:c.1753A>G, NM_001304339.4:c.1753A>G, NM_001304339.3:c.1753A>G, NM_001304339.2:c.1753A>G, NM_001304339.1:c.1753A>G, NR_130707.4:n.2944A>G, NR_130707.3:n.3528A>G, NR_130707.2:n.3567A>G, NR_130707.1:n.3276A>G, NM_001146695.4:c.1753A>G, NM_001146695.3:c.1753A>G, NM_001146695.2:c.1753A>G, NM_001146695.1:c.1753A>G, NM_001353999.3:c.442A>G, NM_001353999.2:c.442A>G, NM_001353999.1:c.442A>G, NM_001354001.3:c.442A>G, NM_001354001.2:c.442A>G, NM_001354001.1:c.442A>G, NR_148679.3:n.2925A>G, NR_148679.2:n.3509A>G, NR_148679.1:n.3548A>G, NR_148680.3:n.2925A>G, NR_148680.2:n.3509A>G, NR_148680.1:n.3548A>G, NM_001354000.3:c.442A>G, NM_001354000.2:c.442A>G, NM_001354000.1:c.442A>G, NM_001353997.3:c.1753A>G, NM_001353997.2:c.1753A>G, NM_001353997.1:c.1753A>G, NR_148677.3:n.2001A>G, NR_148677.2:n.2585A>G, NR_148677.1:n.2624A>G, NR_148678.3:n.2001A>G, NR_148678.2:n.2585A>G, NR_148678.1:n.2624A>G, XM_017014498.3:c.1753A>G, XM_017014498.2:c.1753A>G, XM_017014498.1:c.1753A>G, NM_001353998.3:c.1753A>G, NM_001353998.2:c.1753A>G, NM_001353998.1:c.1753A>G, XR_001746255.3:n.2001A>G, XR_001746255.2:n.2330A>G, XR_001746255.1:n.2002A>G, NM_001146696.2:c.1819A>G, NM_001146696.1:c.1819A>G, NM_001146694.1:c.1753A>G, XM_047423026.1:c.1210A>G, XM_047423029.1:c.1210A>G, XM_047423027.1:c.1210A>G, XM_047423028.1:c.1144A>G, XM_047423030.1:c.814A>G, NP_055876.2:p.Thr585Ala, NP_001291268.1:p.Thr585Ala, NP_001140167.1:p.Thr585Ala, NP_001340928.1:p.Thr148Ala, NP_001340930.1:p.Thr148Ala, NP_001340929.1:p.Thr148Ala, NP_001340926.1:p.Thr585Ala, XP_016869987.1:p.Thr585Ala, NP_001340927.1:p.Thr585Ala, NP_001140168.1:p.Thr607Ala, XP_047278982.1:p.Thr404Ala, XP_047278985.1:p.Thr404Ala, XP_047278983.1:p.Thr404Ala, XP_047278984.1:p.Thr382Ala, XP_047278986.1:p.Thr272Ala

                                      19.

                                      rs1473397410 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        9:6986362 (GRCh38)
                                        9:6986362 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:6986361:C:T
                                        Gene:
                                        KDM4C (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.6986362C>T, NC_000009.11:g.6986362C>T, NM_015061.6:c.1373C>T, NM_015061.5:c.1373C>T, NM_015061.4:c.1373C>T, NM_015061.3:c.1373C>T, NM_001304339.4:c.1373C>T, NM_001304339.3:c.1373C>T, NM_001304339.2:c.1373C>T, NM_001304339.1:c.1373C>T, NM_001304340.4:c.830C>T, NM_001304340.3:c.830C>T, NM_001304340.2:c.830C>T, NM_001304340.1:c.830C>T, NR_130707.4:n.2564C>T, NR_130707.3:n.3148C>T, NR_130707.2:n.3187C>T, NR_130707.1:n.2896C>T, NM_001146695.4:c.1373C>T, NM_001146695.3:c.1373C>T, NM_001146695.2:c.1373C>T, NM_001146695.1:c.1373C>T, NM_001353999.3:c.62C>T, NM_001353999.2:c.62C>T, NM_001353999.1:c.62C>T, NM_001354001.3:c.62C>T, NM_001354001.2:c.62C>T, NM_001354001.1:c.62C>T, NR_148679.3:n.2545C>T, NR_148679.2:n.3129C>T, NR_148679.1:n.3168C>T, NR_148680.3:n.2545C>T, NR_148680.2:n.3129C>T, NR_148680.1:n.3168C>T, NM_001354000.3:c.62C>T, NM_001354000.2:c.62C>T, NM_001354000.1:c.62C>T, NM_001353997.3:c.1373C>T, NM_001353997.2:c.1373C>T, NM_001353997.1:c.1373C>T, NR_148677.3:n.1621C>T, NR_148677.2:n.2205C>T, NR_148677.1:n.2244C>T, NR_148678.3:n.1621C>T, NR_148678.2:n.2205C>T, NR_148678.1:n.2244C>T, XM_017014498.3:c.1373C>T, XM_017014498.2:c.1373C>T, XM_017014498.1:c.1373C>T, NM_001353998.3:c.1373C>T, NM_001353998.2:c.1373C>T, NM_001353998.1:c.1373C>T, XR_001746255.3:n.1621C>T, XR_001746255.2:n.1950C>T, XR_001746255.1:n.1622C>T, NM_001146696.2:c.1439C>T, NM_001146696.1:c.1439C>T, NM_001146694.1:c.1373C>T, XM_047423026.1:c.830C>T, XM_047423029.1:c.830C>T, XM_047423027.1:c.830C>T, XM_047423028.1:c.764C>T, XM_047423030.1:c.434C>T, NP_055876.2:p.Thr458Ile, NP_001291268.1:p.Thr458Ile, NP_001291269.1:p.Thr277Ile, NP_001140167.1:p.Thr458Ile, NP_001340928.1:p.Thr21Ile, NP_001340930.1:p.Thr21Ile, NP_001340929.1:p.Thr21Ile, NP_001340926.1:p.Thr458Ile, XP_016869987.1:p.Thr458Ile, NP_001340927.1:p.Thr458Ile, NP_001140168.1:p.Thr480Ile, XP_047278982.1:p.Thr277Ile, XP_047278985.1:p.Thr277Ile, XP_047278983.1:p.Thr277Ile, XP_047278984.1:p.Thr255Ile, XP_047278986.1:p.Thr145Ile

                                        20.

                                        rs1472906842 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:6986527 (GRCh38)
                                          9:6986527 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:6986526:C:T
                                          Gene:
                                          KDM4C (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.6986527C>T, NC_000009.11:g.6986527C>T, NM_015061.6:c.1538C>T, NM_015061.5:c.1538C>T, NM_015061.4:c.1538C>T, NM_015061.3:c.1538C>T, NM_001304339.4:c.1538C>T, NM_001304339.3:c.1538C>T, NM_001304339.2:c.1538C>T, NM_001304339.1:c.1538C>T, NM_001304340.4:c.995C>T, NM_001304340.3:c.995C>T, NM_001304340.2:c.995C>T, NM_001304340.1:c.995C>T, NR_130707.4:n.2729C>T, NR_130707.3:n.3313C>T, NR_130707.2:n.3352C>T, NR_130707.1:n.3061C>T, NM_001146695.4:c.1538C>T, NM_001146695.3:c.1538C>T, NM_001146695.2:c.1538C>T, NM_001146695.1:c.1538C>T, NM_001353999.3:c.227C>T, NM_001353999.2:c.227C>T, NM_001353999.1:c.227C>T, NM_001354001.3:c.227C>T, NM_001354001.2:c.227C>T, NM_001354001.1:c.227C>T, NR_148679.3:n.2710C>T, NR_148679.2:n.3294C>T, NR_148679.1:n.3333C>T, NR_148680.3:n.2710C>T, NR_148680.2:n.3294C>T, NR_148680.1:n.3333C>T, NM_001354000.3:c.227C>T, NM_001354000.2:c.227C>T, NM_001354000.1:c.227C>T, NM_001353997.3:c.1538C>T, NM_001353997.2:c.1538C>T, NM_001353997.1:c.1538C>T, NR_148677.3:n.1786C>T, NR_148677.2:n.2370C>T, NR_148677.1:n.2409C>T, NR_148678.3:n.1786C>T, NR_148678.2:n.2370C>T, NR_148678.1:n.2409C>T, XM_017014498.3:c.1538C>T, XM_017014498.2:c.1538C>T, XM_017014498.1:c.1538C>T, NM_001353998.3:c.1538C>T, NM_001353998.2:c.1538C>T, NM_001353998.1:c.1538C>T, XR_001746255.3:n.1786C>T, XR_001746255.2:n.2115C>T, XR_001746255.1:n.1787C>T, NM_001146696.2:c.1604C>T, NM_001146696.1:c.1604C>T, NM_001146694.1:c.1538C>T, XM_047423026.1:c.995C>T, XM_047423029.1:c.995C>T, XM_047423027.1:c.995C>T, XM_047423028.1:c.929C>T, XM_047423030.1:c.599C>T, NP_055876.2:p.Ser513Leu, NP_001291268.1:p.Ser513Leu, NP_001291269.1:p.Ser332Leu, NP_001140167.1:p.Ser513Leu, NP_001340928.1:p.Ser76Leu, NP_001340930.1:p.Ser76Leu, NP_001340929.1:p.Ser76Leu, NP_001340926.1:p.Ser513Leu, XP_016869987.1:p.Ser513Leu, NP_001340927.1:p.Ser513Leu, NP_001140168.1:p.Ser535Leu, XP_047278982.1:p.Ser332Leu, XP_047278985.1:p.Ser332Leu, XP_047278983.1:p.Ser332Leu, XP_047278984.1:p.Ser310Leu, XP_047278986.1:p.Ser200Leu

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