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Items: 1 to 20 of 669

1.

rs1490892339 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    6:130083677 (GRCh38)
    6:130404822 (GRCh37)
    Canonical SPDI:
    NC_000006.12:130083676:T:C
    Gene:
    L3MBTL3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000029/4 (GnomAD)
    HGVS:
    NC_000006.12:g.130083677T>C, NC_000006.11:g.130404822T>C, NG_051942.1:g.70309T>C, NM_032438.4:c.1379T>C, NM_032438.3:c.1379T>C, NM_032438.2:c.1379T>C, NM_001007102.4:c.1304T>C, NM_001007102.3:c.1304T>C, NM_001007102.2:c.1304T>C, NM_001346551.2:c.1304T>C, NM_001346551.1:c.1304T>C, NM_001346550.2:c.1304T>C, NM_001346550.1:c.1304T>C, XM_005267161.5:c.1379T>C, XM_005267161.4:c.1379T>C, XM_005267161.3:c.1379T>C, XM_005267161.2:c.1379T>C, XM_005267161.1:c.1379T>C, XM_006715576.4:c.1484T>C, XM_006715576.3:c.1484T>C, XM_006715576.2:c.1484T>C, XM_006715576.1:c.1484T>C, XM_006715578.4:c.1379T>C, XM_006715578.3:c.1379T>C, XM_006715578.2:c.1379T>C, XM_006715578.1:c.1379T>C, XM_011536179.4:c.1379T>C, XM_011536179.3:c.1379T>C, XM_011536179.2:c.1379T>C, XM_011536179.1:c.1379T>C, XM_011536180.3:c.1379T>C, XM_011536180.2:c.1379T>C, XM_011536180.1:c.1379T>C, XM_011536184.3:c.1379T>C, XM_011536184.2:c.1379T>C, XM_011536184.1:c.1379T>C, XM_011536181.3:c.1379T>C, XM_011536181.2:c.1379T>C, XM_011536181.1:c.1379T>C, XM_047419402.1:c.1484T>C, XM_047419403.1:c.1484T>C, XM_047419409.1:c.1304T>C, XM_047419400.1:c.1484T>C, XM_047419407.1:c.1484T>C, XM_047419401.1:c.1484T>C, XM_047419404.1:c.1484T>C, XM_047419405.1:c.1484T>C, XM_047419410.1:c.1304T>C, XM_047419408.1:c.1304T>C, XM_047419412.1:c.1304T>C, NP_115814.1:p.Leu460Ser, NP_001007103.1:p.Leu435Ser, NP_001333480.1:p.Leu435Ser, NP_001333479.1:p.Leu435Ser, XP_005267218.1:p.Leu460Ser, XP_006715639.1:p.Leu495Ser, XP_006715641.1:p.Leu460Ser, XP_011534481.1:p.Leu460Ser, XP_011534482.1:p.Leu460Ser, XP_011534486.1:p.Leu460Ser, XP_011534483.1:p.Leu460Ser, XP_047275358.1:p.Leu495Ser, XP_047275359.1:p.Leu495Ser, XP_047275365.1:p.Leu435Ser, XP_047275356.1:p.Leu495Ser, XP_047275363.1:p.Leu495Ser, XP_047275357.1:p.Leu495Ser, XP_047275360.1:p.Leu495Ser, XP_047275361.1:p.Leu495Ser, XP_047275366.1:p.Leu435Ser, XP_047275364.1:p.Leu435Ser, XP_047275368.1:p.Leu435Ser

    2.

    rs1490512857 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      6:130078610 (GRCh38)
      6:130399755 (GRCh37)
      Canonical SPDI:
      NC_000006.12:130078609:A:G
      Gene:
      L3MBTL3 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000008/2 (TOPMED)
      HGVS:
      NC_000006.12:g.130078610A>G, NC_000006.11:g.130399755A>G, NG_051942.1:g.65242A>G, NM_032438.4:c.1297A>G, NM_032438.3:c.1297A>G, NM_032438.2:c.1297A>G, NM_001007102.4:c.1222A>G, NM_001007102.3:c.1222A>G, NM_001007102.2:c.1222A>G, NM_001346551.2:c.1222A>G, NM_001346551.1:c.1222A>G, NM_001346550.2:c.1222A>G, NM_001346550.1:c.1222A>G, XM_005267161.5:c.1297A>G, XM_005267161.4:c.1297A>G, XM_005267161.3:c.1297A>G, XM_005267161.2:c.1297A>G, XM_005267161.1:c.1297A>G, XM_006715576.4:c.1402A>G, XM_006715576.3:c.1402A>G, XM_006715576.2:c.1402A>G, XM_006715576.1:c.1402A>G, XM_006715578.4:c.1297A>G, XM_006715578.3:c.1297A>G, XM_006715578.2:c.1297A>G, XM_006715578.1:c.1297A>G, XM_011536179.4:c.1297A>G, XM_011536179.3:c.1297A>G, XM_011536179.2:c.1297A>G, XM_011536179.1:c.1297A>G, XM_011536180.3:c.1297A>G, XM_011536180.2:c.1297A>G, XM_011536180.1:c.1297A>G, XM_011536184.3:c.1297A>G, XM_011536184.2:c.1297A>G, XM_011536184.1:c.1297A>G, XM_011536181.3:c.1297A>G, XM_011536181.2:c.1297A>G, XM_011536181.1:c.1297A>G, XM_047419402.1:c.1402A>G, XM_047419403.1:c.1402A>G, XM_047419409.1:c.1222A>G, XM_047419400.1:c.1402A>G, XM_047419407.1:c.1402A>G, XM_047419401.1:c.1402A>G, XM_047419404.1:c.1402A>G, XM_047419405.1:c.1402A>G, XM_047419410.1:c.1222A>G, XM_047419408.1:c.1222A>G, XM_047419412.1:c.1222A>G, NP_115814.1:p.Arg433Gly, NP_001007103.1:p.Arg408Gly, NP_001333480.1:p.Arg408Gly, NP_001333479.1:p.Arg408Gly, XP_005267218.1:p.Arg433Gly, XP_006715639.1:p.Arg468Gly, XP_006715641.1:p.Arg433Gly, XP_011534481.1:p.Arg433Gly, XP_011534482.1:p.Arg433Gly, XP_011534486.1:p.Arg433Gly, XP_011534483.1:p.Arg433Gly, XP_047275358.1:p.Arg468Gly, XP_047275359.1:p.Arg468Gly, XP_047275365.1:p.Arg408Gly, XP_047275356.1:p.Arg468Gly, XP_047275363.1:p.Arg468Gly, XP_047275357.1:p.Arg468Gly, XP_047275360.1:p.Arg468Gly, XP_047275361.1:p.Arg468Gly, XP_047275366.1:p.Arg408Gly, XP_047275364.1:p.Arg408Gly, XP_047275368.1:p.Arg408Gly

      3.

      rs1486402069 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        6:130049389 (GRCh38)
        6:130370534 (GRCh37)
        Canonical SPDI:
        NC_000006.12:130049388:A:G
        Gene:
        L3MBTL3 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000006.12:g.130049389A>G, NC_000006.11:g.130370534A>G, NG_051942.1:g.36021A>G, NM_032438.4:c.210A>G, NM_032438.3:c.210A>G, NM_032438.2:c.210A>G, NM_001007102.4:c.210A>G, NM_001007102.3:c.210A>G, NM_001007102.2:c.210A>G, NM_001346551.2:c.210A>G, NM_001346551.1:c.210A>G, NM_001346550.2:c.210A>G, NM_001346550.1:c.210A>G, XM_005267161.5:c.210A>G, XM_005267161.4:c.210A>G, XM_005267161.3:c.210A>G, XM_005267161.2:c.210A>G, XM_005267161.1:c.210A>G, XM_006715576.4:c.210A>G, XM_006715576.3:c.210A>G, XM_006715576.2:c.210A>G, XM_006715576.1:c.210A>G, XM_006715578.4:c.210A>G, XM_006715578.3:c.210A>G, XM_006715578.2:c.210A>G, XM_006715578.1:c.210A>G, XM_011536179.4:c.210A>G, XM_011536179.3:c.210A>G, XM_011536179.2:c.210A>G, XM_011536179.1:c.210A>G, XM_011536180.3:c.210A>G, XM_011536180.2:c.210A>G, XM_011536180.1:c.210A>G, XM_011536184.3:c.210A>G, XM_011536184.2:c.210A>G, XM_011536184.1:c.210A>G, XM_011536181.3:c.210A>G, XM_011536181.2:c.210A>G, XM_011536181.1:c.210A>G, XM_047419402.1:c.210A>G, XM_047419403.1:c.210A>G, XM_047419409.1:c.210A>G, XM_047419400.1:c.210A>G, XM_047419407.1:c.210A>G, XM_047419401.1:c.210A>G, XM_047419404.1:c.210A>G, XM_047419405.1:c.210A>G, XM_047419410.1:c.210A>G, XM_047419408.1:c.210A>G, XM_047419412.1:c.210A>G

        4.

        rs1485945248 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:130052955 (GRCh38)
          6:130374100 (GRCh37)
          Canonical SPDI:
          NC_000006.12:130052954:C:T
          Gene:
          L3MBTL3 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000006.12:g.130052955C>T, NC_000006.11:g.130374100C>T, NG_051942.1:g.39587C>T, NM_032438.4:c.546C>T, NM_032438.3:c.546C>T, NM_032438.2:c.546C>T, NM_001007102.4:c.471C>T, NM_001007102.3:c.471C>T, NM_001007102.2:c.471C>T, NM_001346551.2:c.471C>T, NM_001346551.1:c.471C>T, NM_001346550.2:c.471C>T, NM_001346550.1:c.471C>T, XM_005267161.5:c.546C>T, XM_005267161.4:c.546C>T, XM_005267161.3:c.546C>T, XM_005267161.2:c.546C>T, XM_005267161.1:c.546C>T, XM_006715576.4:c.651C>T, XM_006715576.3:c.651C>T, XM_006715576.2:c.651C>T, XM_006715576.1:c.651C>T, XM_006715578.4:c.546C>T, XM_006715578.3:c.546C>T, XM_006715578.2:c.546C>T, XM_006715578.1:c.546C>T, XM_011536179.4:c.546C>T, XM_011536179.3:c.546C>T, XM_011536179.2:c.546C>T, XM_011536179.1:c.546C>T, XM_011536180.3:c.546C>T, XM_011536180.2:c.546C>T, XM_011536180.1:c.546C>T, XM_011536184.3:c.546C>T, XM_011536184.2:c.546C>T, XM_011536184.1:c.546C>T, XM_011536181.3:c.546C>T, XM_011536181.2:c.546C>T, XM_011536181.1:c.546C>T, XM_047419402.1:c.651C>T, XM_047419403.1:c.651C>T, XM_047419409.1:c.471C>T, XM_047419400.1:c.651C>T, XM_047419407.1:c.651C>T, XM_047419401.1:c.651C>T, XM_047419404.1:c.651C>T, XM_047419405.1:c.651C>T, XM_047419410.1:c.471C>T, XM_047419408.1:c.471C>T, XM_047419412.1:c.471C>T

          5.

          rs1485355825 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:130042757 (GRCh38)
            6:130363902 (GRCh37)
            Canonical SPDI:
            NC_000006.12:130042756:G:A
            Gene:
            L3MBTL3 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.130042757G>A, NC_000006.11:g.130363902G>A, NG_051942.1:g.29389G>A, NM_032438.4:c.58G>A, NM_032438.3:c.58G>A, NM_032438.2:c.58G>A, NM_001007102.4:c.58G>A, NM_001007102.3:c.58G>A, NM_001007102.2:c.58G>A, NM_001346551.2:c.58G>A, NM_001346551.1:c.58G>A, NM_001346550.2:c.58G>A, NM_001346550.1:c.58G>A, XM_005267161.5:c.58G>A, XM_005267161.4:c.58G>A, XM_005267161.3:c.58G>A, XM_005267161.2:c.58G>A, XM_005267161.1:c.58G>A, XM_006715576.4:c.58G>A, XM_006715576.3:c.58G>A, XM_006715576.2:c.58G>A, XM_006715576.1:c.58G>A, XM_006715578.4:c.58G>A, XM_006715578.3:c.58G>A, XM_006715578.2:c.58G>A, XM_006715578.1:c.58G>A, XM_011536179.4:c.58G>A, XM_011536179.3:c.58G>A, XM_011536179.2:c.58G>A, XM_011536179.1:c.58G>A, XM_011536180.3:c.58G>A, XM_011536180.2:c.58G>A, XM_011536180.1:c.58G>A, XM_011536184.3:c.58G>A, XM_011536184.2:c.58G>A, XM_011536184.1:c.58G>A, XM_011536181.3:c.58G>A, XM_011536181.2:c.58G>A, XM_011536181.1:c.58G>A, XM_047419402.1:c.58G>A, XM_047419403.1:c.58G>A, XM_047419409.1:c.58G>A, XM_047419400.1:c.58G>A, XM_047419407.1:c.58G>A, XM_047419401.1:c.58G>A, XM_047419404.1:c.58G>A, XM_047419405.1:c.58G>A, XM_047419410.1:c.58G>A, XM_047419408.1:c.58G>A, XM_047419412.1:c.58G>A, NP_115814.1:p.Asp20Asn, NP_001007103.1:p.Asp20Asn, NP_001333480.1:p.Asp20Asn, NP_001333479.1:p.Asp20Asn, XP_005267218.1:p.Asp20Asn, XP_006715639.1:p.Asp20Asn, XP_006715641.1:p.Asp20Asn, XP_011534481.1:p.Asp20Asn, XP_011534482.1:p.Asp20Asn, XP_011534486.1:p.Asp20Asn, XP_011534483.1:p.Asp20Asn, XP_047275358.1:p.Asp20Asn, XP_047275359.1:p.Asp20Asn, XP_047275365.1:p.Asp20Asn, XP_047275356.1:p.Asp20Asn, XP_047275363.1:p.Asp20Asn, XP_047275357.1:p.Asp20Asn, XP_047275360.1:p.Asp20Asn, XP_047275361.1:p.Asp20Asn, XP_047275366.1:p.Asp20Asn, XP_047275364.1:p.Asp20Asn, XP_047275368.1:p.Asp20Asn

            6.

            rs1481270406 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>T [Show Flanks]
              Chromosome:
              6:130086195 (GRCh38)
              6:130407340 (GRCh37)
              Canonical SPDI:
              NC_000006.12:130086194:A:T
              Gene:
              L3MBTL3 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000006.12:g.130086195A>T, NC_000006.11:g.130407340A>T, NG_051942.1:g.72827A>T, NM_032438.4:c.1463A>T, NM_032438.3:c.1463A>T, NM_032438.2:c.1463A>T, NM_001007102.4:c.1388A>T, NM_001007102.3:c.1388A>T, NM_001007102.2:c.1388A>T, NM_001346551.2:c.1388A>T, NM_001346551.1:c.1388A>T, NM_001346550.2:c.1388A>T, NM_001346550.1:c.1388A>T, XM_005267161.5:c.1463A>T, XM_005267161.4:c.1463A>T, XM_005267161.3:c.1463A>T, XM_005267161.2:c.1463A>T, XM_005267161.1:c.1463A>T, XM_006715576.4:c.1568A>T, XM_006715576.3:c.1568A>T, XM_006715576.2:c.1568A>T, XM_006715576.1:c.1568A>T, XM_006715578.4:c.1463A>T, XM_006715578.3:c.1463A>T, XM_006715578.2:c.1463A>T, XM_006715578.1:c.1463A>T, XM_011536179.4:c.1463A>T, XM_011536179.3:c.1463A>T, XM_011536179.2:c.1463A>T, XM_011536179.1:c.1463A>T, XM_011536180.3:c.1463A>T, XM_011536180.2:c.1463A>T, XM_011536180.1:c.1463A>T, XM_011536184.3:c.1463A>T, XM_011536184.2:c.1463A>T, XM_011536184.1:c.1463A>T, XM_011536181.3:c.1463A>T, XM_011536181.2:c.1463A>T, XM_011536181.1:c.1463A>T, XM_047419402.1:c.1568A>T, XM_047419403.1:c.1568A>T, XM_047419409.1:c.1388A>T, XM_047419400.1:c.1568A>T, XM_047419407.1:c.1568A>T, XM_047419401.1:c.1568A>T, XM_047419404.1:c.1568A>T, XM_047419405.1:c.1568A>T, XM_047419410.1:c.1388A>T, XM_047419408.1:c.1388A>T, XM_047419412.1:c.1388A>T, NP_115814.1:p.Asn488Ile, NP_001007103.1:p.Asn463Ile, NP_001333480.1:p.Asn463Ile, NP_001333479.1:p.Asn463Ile, XP_005267218.1:p.Asn488Ile, XP_006715639.1:p.Asn523Ile, XP_006715641.1:p.Asn488Ile, XP_011534481.1:p.Asn488Ile, XP_011534482.1:p.Asn488Ile, XP_011534486.1:p.Asn488Ile, XP_011534483.1:p.Asn488Ile, XP_047275358.1:p.Asn523Ile, XP_047275359.1:p.Asn523Ile, XP_047275365.1:p.Asn463Ile, XP_047275356.1:p.Asn523Ile, XP_047275363.1:p.Asn523Ile, XP_047275357.1:p.Asn523Ile, XP_047275360.1:p.Asn523Ile, XP_047275361.1:p.Asn523Ile, XP_047275366.1:p.Asn463Ile, XP_047275364.1:p.Asn463Ile, XP_047275368.1:p.Asn463Ile

              7.

              rs1479720147 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A [Show Flanks]
                Chromosome:
                6:130052944 (GRCh38)
                6:130374089 (GRCh37)
                Canonical SPDI:
                NC_000006.12:130052943:C:A
                Gene:
                L3MBTL3 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.130052944C>A, NC_000006.11:g.130374089C>A, NG_051942.1:g.39576C>A, NM_032438.4:c.535C>A, NM_032438.3:c.535C>A, NM_032438.2:c.535C>A, NM_001007102.4:c.460C>A, NM_001007102.3:c.460C>A, NM_001007102.2:c.460C>A, NM_001346551.2:c.460C>A, NM_001346551.1:c.460C>A, NM_001346550.2:c.460C>A, NM_001346550.1:c.460C>A, XM_005267161.5:c.535C>A, XM_005267161.4:c.535C>A, XM_005267161.3:c.535C>A, XM_005267161.2:c.535C>A, XM_005267161.1:c.535C>A, XM_006715576.4:c.640C>A, XM_006715576.3:c.640C>A, XM_006715576.2:c.640C>A, XM_006715576.1:c.640C>A, XM_006715578.4:c.535C>A, XM_006715578.3:c.535C>A, XM_006715578.2:c.535C>A, XM_006715578.1:c.535C>A, XM_011536179.4:c.535C>A, XM_011536179.3:c.535C>A, XM_011536179.2:c.535C>A, XM_011536179.1:c.535C>A, XM_011536180.3:c.535C>A, XM_011536180.2:c.535C>A, XM_011536180.1:c.535C>A, XM_011536184.3:c.535C>A, XM_011536184.2:c.535C>A, XM_011536184.1:c.535C>A, XM_011536181.3:c.535C>A, XM_011536181.2:c.535C>A, XM_011536181.1:c.535C>A, XM_047419402.1:c.640C>A, XM_047419403.1:c.640C>A, XM_047419409.1:c.460C>A, XM_047419400.1:c.640C>A, XM_047419407.1:c.640C>A, XM_047419401.1:c.640C>A, XM_047419404.1:c.640C>A, XM_047419405.1:c.640C>A, XM_047419410.1:c.460C>A, XM_047419408.1:c.460C>A, XM_047419412.1:c.460C>A, NP_115814.1:p.Leu179Met, NP_001007103.1:p.Leu154Met, NP_001333480.1:p.Leu154Met, NP_001333479.1:p.Leu154Met, XP_005267218.1:p.Leu179Met, XP_006715639.1:p.Leu214Met, XP_006715641.1:p.Leu179Met, XP_011534481.1:p.Leu179Met, XP_011534482.1:p.Leu179Met, XP_011534486.1:p.Leu179Met, XP_011534483.1:p.Leu179Met, XP_047275358.1:p.Leu214Met, XP_047275359.1:p.Leu214Met, XP_047275365.1:p.Leu154Met, XP_047275356.1:p.Leu214Met, XP_047275363.1:p.Leu214Met, XP_047275357.1:p.Leu214Met, XP_047275360.1:p.Leu214Met, XP_047275361.1:p.Leu214Met, XP_047275366.1:p.Leu154Met, XP_047275364.1:p.Leu154Met, XP_047275368.1:p.Leu154Met

                8.

                rs1479614662 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:130086157 (GRCh38)
                  6:130407302 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:130086156:C:T
                  Gene:
                  L3MBTL3 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.130086157C>T, NC_000006.11:g.130407302C>T, NG_051942.1:g.72789C>T, NM_032438.4:c.1425C>T, NM_032438.3:c.1425C>T, NM_032438.2:c.1425C>T, NM_001007102.4:c.1350C>T, NM_001007102.3:c.1350C>T, NM_001007102.2:c.1350C>T, NM_001346551.2:c.1350C>T, NM_001346551.1:c.1350C>T, NM_001346550.2:c.1350C>T, NM_001346550.1:c.1350C>T, XM_005267161.5:c.1425C>T, XM_005267161.4:c.1425C>T, XM_005267161.3:c.1425C>T, XM_005267161.2:c.1425C>T, XM_005267161.1:c.1425C>T, XM_006715576.4:c.1530C>T, XM_006715576.3:c.1530C>T, XM_006715576.2:c.1530C>T, XM_006715576.1:c.1530C>T, XM_006715578.4:c.1425C>T, XM_006715578.3:c.1425C>T, XM_006715578.2:c.1425C>T, XM_006715578.1:c.1425C>T, XM_011536179.4:c.1425C>T, XM_011536179.3:c.1425C>T, XM_011536179.2:c.1425C>T, XM_011536179.1:c.1425C>T, XM_011536180.3:c.1425C>T, XM_011536180.2:c.1425C>T, XM_011536180.1:c.1425C>T, XM_011536184.3:c.1425C>T, XM_011536184.2:c.1425C>T, XM_011536184.1:c.1425C>T, XM_011536181.3:c.1425C>T, XM_011536181.2:c.1425C>T, XM_011536181.1:c.1425C>T, XM_047419402.1:c.1530C>T, XM_047419403.1:c.1530C>T, XM_047419409.1:c.1350C>T, XM_047419400.1:c.1530C>T, XM_047419407.1:c.1530C>T, XM_047419401.1:c.1530C>T, XM_047419404.1:c.1530C>T, XM_047419405.1:c.1530C>T, XM_047419410.1:c.1350C>T, XM_047419408.1:c.1350C>T, XM_047419412.1:c.1350C>T

                  9.

                  rs1479094883 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    6:130051363 (GRCh38)
                    6:130372508 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:130051362:G:A
                    Gene:
                    L3MBTL3 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000006.12:g.130051363G>A, NC_000006.11:g.130372508G>A, NG_051942.1:g.37995G>A, NM_032438.4:c.404G>A, NM_032438.3:c.404G>A, NM_032438.2:c.404G>A, NM_001007102.4:c.329G>A, NM_001007102.3:c.329G>A, NM_001007102.2:c.329G>A, NM_001346551.2:c.329G>A, NM_001346551.1:c.329G>A, NM_001346550.2:c.329G>A, NM_001346550.1:c.329G>A, XM_005267161.5:c.404G>A, XM_005267161.4:c.404G>A, XM_005267161.3:c.404G>A, XM_005267161.2:c.404G>A, XM_005267161.1:c.404G>A, XM_006715576.4:c.509G>A, XM_006715576.3:c.509G>A, XM_006715576.2:c.509G>A, XM_006715576.1:c.509G>A, XM_006715578.4:c.404G>A, XM_006715578.3:c.404G>A, XM_006715578.2:c.404G>A, XM_006715578.1:c.404G>A, XM_011536179.4:c.404G>A, XM_011536179.3:c.404G>A, XM_011536179.2:c.404G>A, XM_011536179.1:c.404G>A, XM_011536180.3:c.404G>A, XM_011536180.2:c.404G>A, XM_011536180.1:c.404G>A, XM_011536184.3:c.404G>A, XM_011536184.2:c.404G>A, XM_011536184.1:c.404G>A, XM_011536181.3:c.404G>A, XM_011536181.2:c.404G>A, XM_011536181.1:c.404G>A, XM_047419402.1:c.509G>A, XM_047419403.1:c.509G>A, XM_047419409.1:c.329G>A, XM_047419400.1:c.509G>A, XM_047419407.1:c.509G>A, XM_047419401.1:c.509G>A, XM_047419404.1:c.509G>A, XM_047419405.1:c.509G>A, XM_047419410.1:c.329G>A, XM_047419408.1:c.329G>A, XM_047419412.1:c.329G>A, NP_115814.1:p.Gly135Glu, NP_001007103.1:p.Gly110Glu, NP_001333480.1:p.Gly110Glu, NP_001333479.1:p.Gly110Glu, XP_005267218.1:p.Gly135Glu, XP_006715639.1:p.Gly170Glu, XP_006715641.1:p.Gly135Glu, XP_011534481.1:p.Gly135Glu, XP_011534482.1:p.Gly135Glu, XP_011534486.1:p.Gly135Glu, XP_011534483.1:p.Gly135Glu, XP_047275358.1:p.Gly170Glu, XP_047275359.1:p.Gly170Glu, XP_047275365.1:p.Gly110Glu, XP_047275356.1:p.Gly170Glu, XP_047275363.1:p.Gly170Glu, XP_047275357.1:p.Gly170Glu, XP_047275360.1:p.Gly170Glu, XP_047275361.1:p.Gly170Glu, XP_047275366.1:p.Gly110Glu, XP_047275364.1:p.Gly110Glu, XP_047275368.1:p.Gly110Glu

                    10.

                    rs1475686954 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      6:130057492 (GRCh38)
                      6:130378637 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:130057491:A:G
                      Gene:
                      L3MBTL3 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000006.12:g.130057492A>G, NC_000006.11:g.130378637A>G, NG_051942.1:g.44124A>G, NM_032438.4:c.754A>G, NM_032438.3:c.754A>G, NM_032438.2:c.754A>G, NM_001007102.4:c.679A>G, NM_001007102.3:c.679A>G, NM_001007102.2:c.679A>G, NM_001346551.2:c.679A>G, NM_001346551.1:c.679A>G, NM_001346550.2:c.679A>G, NM_001346550.1:c.679A>G, XM_005267161.5:c.754A>G, XM_005267161.4:c.754A>G, XM_005267161.3:c.754A>G, XM_005267161.2:c.754A>G, XM_005267161.1:c.754A>G, XM_006715576.4:c.859A>G, XM_006715576.3:c.859A>G, XM_006715576.2:c.859A>G, XM_006715576.1:c.859A>G, XM_006715578.4:c.754A>G, XM_006715578.3:c.754A>G, XM_006715578.2:c.754A>G, XM_006715578.1:c.754A>G, XM_011536179.4:c.754A>G, XM_011536179.3:c.754A>G, XM_011536179.2:c.754A>G, XM_011536179.1:c.754A>G, XM_011536180.3:c.754A>G, XM_011536180.2:c.754A>G, XM_011536180.1:c.754A>G, XM_011536184.3:c.754A>G, XM_011536184.2:c.754A>G, XM_011536184.1:c.754A>G, XM_011536181.3:c.754A>G, XM_011536181.2:c.754A>G, XM_011536181.1:c.754A>G, XM_047419402.1:c.859A>G, XM_047419403.1:c.859A>G, XM_047419409.1:c.679A>G, XM_047419400.1:c.859A>G, XM_047419407.1:c.859A>G, XM_047419401.1:c.859A>G, XM_047419404.1:c.859A>G, XM_047419405.1:c.859A>G, XM_047419410.1:c.679A>G, XM_047419408.1:c.679A>G, XM_047419412.1:c.679A>G, NP_115814.1:p.Lys252Glu, NP_001007103.1:p.Lys227Glu, NP_001333480.1:p.Lys227Glu, NP_001333479.1:p.Lys227Glu, XP_005267218.1:p.Lys252Glu, XP_006715639.1:p.Lys287Glu, XP_006715641.1:p.Lys252Glu, XP_011534481.1:p.Lys252Glu, XP_011534482.1:p.Lys252Glu, XP_011534486.1:p.Lys252Glu, XP_011534483.1:p.Lys252Glu, XP_047275358.1:p.Lys287Glu, XP_047275359.1:p.Lys287Glu, XP_047275365.1:p.Lys227Glu, XP_047275356.1:p.Lys287Glu, XP_047275363.1:p.Lys287Glu, XP_047275357.1:p.Lys287Glu, XP_047275360.1:p.Lys287Glu, XP_047275361.1:p.Lys287Glu, XP_047275366.1:p.Lys227Glu, XP_047275364.1:p.Lys227Glu, XP_047275368.1:p.Lys227Glu

                      11.

                      rs1473773067 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        6:130051396 (GRCh38)
                        6:130372541 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:130051395:A:G
                        Gene:
                        L3MBTL3 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000006.12:g.130051396A>G, NC_000006.11:g.130372541A>G, NG_051942.1:g.38028A>G, NM_032438.4:c.437A>G, NM_032438.3:c.437A>G, NM_032438.2:c.437A>G, NM_001007102.4:c.362A>G, NM_001007102.3:c.362A>G, NM_001007102.2:c.362A>G, NM_001346551.2:c.362A>G, NM_001346551.1:c.362A>G, NM_001346550.2:c.362A>G, NM_001346550.1:c.362A>G, XM_005267161.5:c.437A>G, XM_005267161.4:c.437A>G, XM_005267161.3:c.437A>G, XM_005267161.2:c.437A>G, XM_005267161.1:c.437A>G, XM_006715576.4:c.542A>G, XM_006715576.3:c.542A>G, XM_006715576.2:c.542A>G, XM_006715576.1:c.542A>G, XM_006715578.4:c.437A>G, XM_006715578.3:c.437A>G, XM_006715578.2:c.437A>G, XM_006715578.1:c.437A>G, XM_011536179.4:c.437A>G, XM_011536179.3:c.437A>G, XM_011536179.2:c.437A>G, XM_011536179.1:c.437A>G, XM_011536180.3:c.437A>G, XM_011536180.2:c.437A>G, XM_011536180.1:c.437A>G, XM_011536184.3:c.437A>G, XM_011536184.2:c.437A>G, XM_011536184.1:c.437A>G, XM_011536181.3:c.437A>G, XM_011536181.2:c.437A>G, XM_011536181.1:c.437A>G, XM_047419402.1:c.542A>G, XM_047419403.1:c.542A>G, XM_047419409.1:c.362A>G, XM_047419400.1:c.542A>G, XM_047419407.1:c.542A>G, XM_047419401.1:c.542A>G, XM_047419404.1:c.542A>G, XM_047419405.1:c.542A>G, XM_047419410.1:c.362A>G, XM_047419408.1:c.362A>G, XM_047419412.1:c.362A>G, NP_115814.1:p.His146Arg, NP_001007103.1:p.His121Arg, NP_001333480.1:p.His121Arg, NP_001333479.1:p.His121Arg, XP_005267218.1:p.His146Arg, XP_006715639.1:p.His181Arg, XP_006715641.1:p.His146Arg, XP_011534481.1:p.His146Arg, XP_011534482.1:p.His146Arg, XP_011534486.1:p.His146Arg, XP_011534483.1:p.His146Arg, XP_047275358.1:p.His181Arg, XP_047275359.1:p.His181Arg, XP_047275365.1:p.His121Arg, XP_047275356.1:p.His181Arg, XP_047275363.1:p.His181Arg, XP_047275357.1:p.His181Arg, XP_047275360.1:p.His181Arg, XP_047275361.1:p.His181Arg, XP_047275366.1:p.His121Arg, XP_047275364.1:p.His121Arg, XP_047275368.1:p.His121Arg

                        12.

                        rs1472251574 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          6:130049377 (GRCh38)
                          6:130370522 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:130049376:A:C
                          Gene:
                          L3MBTL3 (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000006.12:g.130049377A>C, NC_000006.11:g.130370522A>C, NG_051942.1:g.36009A>C, NM_032438.4:c.198A>C, NM_032438.3:c.198A>C, NM_032438.2:c.198A>C, NM_001007102.4:c.198A>C, NM_001007102.3:c.198A>C, NM_001007102.2:c.198A>C, NM_001346551.2:c.198A>C, NM_001346551.1:c.198A>C, NM_001346550.2:c.198A>C, NM_001346550.1:c.198A>C, XM_005267161.5:c.198A>C, XM_005267161.4:c.198A>C, XM_005267161.3:c.198A>C, XM_005267161.2:c.198A>C, XM_005267161.1:c.198A>C, XM_006715576.4:c.198A>C, XM_006715576.3:c.198A>C, XM_006715576.2:c.198A>C, XM_006715576.1:c.198A>C, XM_006715578.4:c.198A>C, XM_006715578.3:c.198A>C, XM_006715578.2:c.198A>C, XM_006715578.1:c.198A>C, XM_011536179.4:c.198A>C, XM_011536179.3:c.198A>C, XM_011536179.2:c.198A>C, XM_011536179.1:c.198A>C, XM_011536180.3:c.198A>C, XM_011536180.2:c.198A>C, XM_011536180.1:c.198A>C, XM_011536184.3:c.198A>C, XM_011536184.2:c.198A>C, XM_011536184.1:c.198A>C, XM_011536181.3:c.198A>C, XM_011536181.2:c.198A>C, XM_011536181.1:c.198A>C, XM_047419402.1:c.198A>C, XM_047419403.1:c.198A>C, XM_047419409.1:c.198A>C, XM_047419400.1:c.198A>C, XM_047419407.1:c.198A>C, XM_047419401.1:c.198A>C, XM_047419404.1:c.198A>C, XM_047419405.1:c.198A>C, XM_047419410.1:c.198A>C, XM_047419408.1:c.198A>C, XM_047419412.1:c.198A>C

                          13.

                          rs1471521145 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            6:130057443 (GRCh38)
                            6:130378588 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:130057442:A:C
                            Gene:
                            L3MBTL3 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.130057443A>C, NC_000006.11:g.130378588A>C, NG_051942.1:g.44075A>C, NM_032438.4:c.705A>C, NM_032438.3:c.705A>C, NM_032438.2:c.705A>C, NM_001007102.4:c.630A>C, NM_001007102.3:c.630A>C, NM_001007102.2:c.630A>C, NM_001346551.2:c.630A>C, NM_001346551.1:c.630A>C, NM_001346550.2:c.630A>C, NM_001346550.1:c.630A>C, XM_005267161.5:c.705A>C, XM_005267161.4:c.705A>C, XM_005267161.3:c.705A>C, XM_005267161.2:c.705A>C, XM_005267161.1:c.705A>C, XM_006715576.4:c.810A>C, XM_006715576.3:c.810A>C, XM_006715576.2:c.810A>C, XM_006715576.1:c.810A>C, XM_006715578.4:c.705A>C, XM_006715578.3:c.705A>C, XM_006715578.2:c.705A>C, XM_006715578.1:c.705A>C, XM_011536179.4:c.705A>C, XM_011536179.3:c.705A>C, XM_011536179.2:c.705A>C, XM_011536179.1:c.705A>C, XM_011536180.3:c.705A>C, XM_011536180.2:c.705A>C, XM_011536180.1:c.705A>C, XM_011536184.3:c.705A>C, XM_011536184.2:c.705A>C, XM_011536184.1:c.705A>C, XM_011536181.3:c.705A>C, XM_011536181.2:c.705A>C, XM_011536181.1:c.705A>C, XM_047419402.1:c.810A>C, XM_047419403.1:c.810A>C, XM_047419409.1:c.630A>C, XM_047419400.1:c.810A>C, XM_047419407.1:c.810A>C, XM_047419401.1:c.810A>C, XM_047419404.1:c.810A>C, XM_047419405.1:c.810A>C, XM_047419410.1:c.630A>C, XM_047419408.1:c.630A>C, XM_047419412.1:c.630A>C

                            14.

                            rs1469099645 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              6:130104461 (GRCh38)
                              6:130425606 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:130104460:A:G
                              Gene:
                              L3MBTL3 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000006.12:g.130104461A>G, NC_000006.11:g.130425606A>G, NG_051942.1:g.91093A>G, NM_032438.4:c.1772A>G, NM_032438.3:c.1772A>G, NM_032438.2:c.1772A>G, NM_001007102.4:c.1697A>G, NM_001007102.3:c.1697A>G, NM_001007102.2:c.1697A>G, NM_001346551.2:c.1697A>G, NM_001346551.1:c.1697A>G, NM_001346550.2:c.1697A>G, NM_001346550.1:c.1697A>G, XM_005267161.5:c.1772A>G, XM_005267161.4:c.1772A>G, XM_005267161.3:c.1772A>G, XM_005267161.2:c.1772A>G, XM_005267161.1:c.1772A>G, XM_006715576.4:c.1877A>G, XM_006715576.3:c.1877A>G, XM_006715576.2:c.1877A>G, XM_006715576.1:c.1877A>G, XM_006715578.4:c.1772A>G, XM_006715578.3:c.1772A>G, XM_006715578.2:c.1772A>G, XM_006715578.1:c.1772A>G, XM_011536179.4:c.1772A>G, XM_011536179.3:c.1772A>G, XM_011536179.2:c.1772A>G, XM_011536179.1:c.1772A>G, XM_011536180.3:c.1772A>G, XM_011536180.2:c.1772A>G, XM_011536180.1:c.1772A>G, XM_011536184.3:c.1772A>G, XM_011536184.2:c.1772A>G, XM_011536184.1:c.1772A>G, XM_011536181.3:c.1772A>G, XM_011536181.2:c.1772A>G, XM_011536181.1:c.1772A>G, XM_047419402.1:c.1877A>G, XM_047419403.1:c.1877A>G, XM_047419409.1:c.1697A>G, XM_047419400.1:c.1877A>G, XM_047419407.1:c.1877A>G, XM_047419401.1:c.1877A>G, XM_047419404.1:c.1877A>G, XM_047419405.1:c.1877A>G, XM_047419410.1:c.1697A>G, XM_047419408.1:c.1697A>G, XM_047419412.1:c.1697A>G, NP_115814.1:p.Asn591Ser, NP_001007103.1:p.Asn566Ser, NP_001333480.1:p.Asn566Ser, NP_001333479.1:p.Asn566Ser, XP_005267218.1:p.Asn591Ser, XP_006715639.1:p.Asn626Ser, XP_006715641.1:p.Asn591Ser, XP_011534481.1:p.Asn591Ser, XP_011534482.1:p.Asn591Ser, XP_011534486.1:p.Asn591Ser, XP_011534483.1:p.Asn591Ser, XP_047275358.1:p.Asn626Ser, XP_047275359.1:p.Asn626Ser, XP_047275365.1:p.Asn566Ser, XP_047275356.1:p.Asn626Ser, XP_047275363.1:p.Asn626Ser, XP_047275357.1:p.Asn626Ser, XP_047275360.1:p.Asn626Ser, XP_047275361.1:p.Asn626Ser, XP_047275366.1:p.Asn566Ser, XP_047275364.1:p.Asn566Ser, XP_047275368.1:p.Asn566Ser

                              15.

                              rs1468653283 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>C [Show Flanks]
                                Chromosome:
                                6:130104512 (GRCh38)
                                6:130425657 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:130104511:G:C
                                Gene:
                                L3MBTL3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.130104512G>C, NC_000006.11:g.130425657G>C, NG_051942.1:g.91144G>C, NM_032438.4:c.1823G>C, NM_032438.3:c.1823G>C, NM_032438.2:c.1823G>C, NM_001007102.4:c.1748G>C, NM_001007102.3:c.1748G>C, NM_001007102.2:c.1748G>C, NM_001346551.2:c.1748G>C, NM_001346551.1:c.1748G>C, NM_001346550.2:c.1748G>C, NM_001346550.1:c.1748G>C, XM_005267161.5:c.1823G>C, XM_005267161.4:c.1823G>C, XM_005267161.3:c.1823G>C, XM_005267161.2:c.1823G>C, XM_005267161.1:c.1823G>C, XM_006715576.4:c.1928G>C, XM_006715576.3:c.1928G>C, XM_006715576.2:c.1928G>C, XM_006715576.1:c.1928G>C, XM_006715578.4:c.1823G>C, XM_006715578.3:c.1823G>C, XM_006715578.2:c.1823G>C, XM_006715578.1:c.1823G>C, XM_011536179.4:c.1823G>C, XM_011536179.3:c.1823G>C, XM_011536179.2:c.1823G>C, XM_011536179.1:c.1823G>C, XM_011536180.3:c.1823G>C, XM_011536180.2:c.1823G>C, XM_011536180.1:c.1823G>C, XM_011536184.3:c.1823G>C, XM_011536184.2:c.1823G>C, XM_011536184.1:c.1823G>C, XM_011536181.3:c.1823G>C, XM_011536181.2:c.1823G>C, XM_011536181.1:c.1823G>C, XM_047419402.1:c.1928G>C, XM_047419403.1:c.1928G>C, XM_047419409.1:c.1748G>C, XM_047419400.1:c.1928G>C, XM_047419407.1:c.1928G>C, XM_047419401.1:c.1928G>C, XM_047419404.1:c.1928G>C, XM_047419405.1:c.1928G>C, XM_047419410.1:c.1748G>C, XM_047419408.1:c.1748G>C, XM_047419412.1:c.1748G>C, NP_115814.1:p.Ser608Thr, NP_001007103.1:p.Ser583Thr, NP_001333480.1:p.Ser583Thr, NP_001333479.1:p.Ser583Thr, XP_005267218.1:p.Ser608Thr, XP_006715639.1:p.Ser643Thr, XP_006715641.1:p.Ser608Thr, XP_011534481.1:p.Ser608Thr, XP_011534482.1:p.Ser608Thr, XP_011534486.1:p.Ser608Thr, XP_011534483.1:p.Ser608Thr, XP_047275358.1:p.Ser643Thr, XP_047275359.1:p.Ser643Thr, XP_047275365.1:p.Ser583Thr, XP_047275356.1:p.Ser643Thr, XP_047275363.1:p.Ser643Thr, XP_047275357.1:p.Ser643Thr, XP_047275360.1:p.Ser643Thr, XP_047275361.1:p.Ser643Thr, XP_047275366.1:p.Ser583Thr, XP_047275364.1:p.Ser583Thr, XP_047275368.1:p.Ser583Thr

                                16.

                                rs1467788746 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  6:130092764 (GRCh38)
                                  6:130413909 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:130092763:A:G
                                  Gene:
                                  L3MBTL3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.130092764A>G, NC_000006.11:g.130413909A>G, NG_051942.1:g.79396A>G, NM_032438.4:c.1538A>G, NM_032438.3:c.1538A>G, NM_032438.2:c.1538A>G, NM_001007102.4:c.1463A>G, NM_001007102.3:c.1463A>G, NM_001007102.2:c.1463A>G, NM_001346551.2:c.1463A>G, NM_001346551.1:c.1463A>G, NM_001346550.2:c.1463A>G, NM_001346550.1:c.1463A>G, XM_005267161.5:c.1538A>G, XM_005267161.4:c.1538A>G, XM_005267161.3:c.1538A>G, XM_005267161.2:c.1538A>G, XM_005267161.1:c.1538A>G, XM_006715576.4:c.1643A>G, XM_006715576.3:c.1643A>G, XM_006715576.2:c.1643A>G, XM_006715576.1:c.1643A>G, XM_006715578.4:c.1538A>G, XM_006715578.3:c.1538A>G, XM_006715578.2:c.1538A>G, XM_006715578.1:c.1538A>G, XM_011536179.4:c.1538A>G, XM_011536179.3:c.1538A>G, XM_011536179.2:c.1538A>G, XM_011536179.1:c.1538A>G, XM_011536180.3:c.1538A>G, XM_011536180.2:c.1538A>G, XM_011536180.1:c.1538A>G, XM_011536184.3:c.1538A>G, XM_011536184.2:c.1538A>G, XM_011536184.1:c.1538A>G, XM_011536181.3:c.1538A>G, XM_011536181.2:c.1538A>G, XM_011536181.1:c.1538A>G, XM_047419402.1:c.1643A>G, XM_047419403.1:c.1643A>G, XM_047419409.1:c.1463A>G, XM_047419400.1:c.1643A>G, XM_047419407.1:c.1643A>G, XM_047419401.1:c.1643A>G, XM_047419404.1:c.1643A>G, XM_047419405.1:c.1643A>G, XM_047419410.1:c.1463A>G, XM_047419408.1:c.1463A>G, XM_047419412.1:c.1463A>G, NP_115814.1:p.Asn513Ser, NP_001007103.1:p.Asn488Ser, NP_001333480.1:p.Asn488Ser, NP_001333479.1:p.Asn488Ser, XP_005267218.1:p.Asn513Ser, XP_006715639.1:p.Asn548Ser, XP_006715641.1:p.Asn513Ser, XP_011534481.1:p.Asn513Ser, XP_011534482.1:p.Asn513Ser, XP_011534486.1:p.Asn513Ser, XP_011534483.1:p.Asn513Ser, XP_047275358.1:p.Asn548Ser, XP_047275359.1:p.Asn548Ser, XP_047275365.1:p.Asn488Ser, XP_047275356.1:p.Asn548Ser, XP_047275363.1:p.Asn548Ser, XP_047275357.1:p.Asn548Ser, XP_047275360.1:p.Asn548Ser, XP_047275361.1:p.Asn548Ser, XP_047275366.1:p.Asn488Ser, XP_047275364.1:p.Asn488Ser, XP_047275368.1:p.Asn488Ser

                                  17.

                                  rs1466226812 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    6:130083704 (GRCh38)
                                    6:130404849 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:130083703:T:C
                                    Gene:
                                    L3MBTL3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.130083704T>C, NC_000006.11:g.130404849T>C, NG_051942.1:g.70336T>C, NM_032438.4:c.1406T>C, NM_032438.3:c.1406T>C, NM_032438.2:c.1406T>C, NM_001007102.4:c.1331T>C, NM_001007102.3:c.1331T>C, NM_001007102.2:c.1331T>C, NM_001346551.2:c.1331T>C, NM_001346551.1:c.1331T>C, NM_001346550.2:c.1331T>C, NM_001346550.1:c.1331T>C, XM_005267161.5:c.1406T>C, XM_005267161.4:c.1406T>C, XM_005267161.3:c.1406T>C, XM_005267161.2:c.1406T>C, XM_005267161.1:c.1406T>C, XM_006715576.4:c.1511T>C, XM_006715576.3:c.1511T>C, XM_006715576.2:c.1511T>C, XM_006715576.1:c.1511T>C, XM_006715578.4:c.1406T>C, XM_006715578.3:c.1406T>C, XM_006715578.2:c.1406T>C, XM_006715578.1:c.1406T>C, XM_011536179.4:c.1406T>C, XM_011536179.3:c.1406T>C, XM_011536179.2:c.1406T>C, XM_011536179.1:c.1406T>C, XM_011536180.3:c.1406T>C, XM_011536180.2:c.1406T>C, XM_011536180.1:c.1406T>C, XM_011536184.3:c.1406T>C, XM_011536184.2:c.1406T>C, XM_011536184.1:c.1406T>C, XM_011536181.3:c.1406T>C, XM_011536181.2:c.1406T>C, XM_011536181.1:c.1406T>C, XM_047419402.1:c.1511T>C, XM_047419403.1:c.1511T>C, XM_047419409.1:c.1331T>C, XM_047419400.1:c.1511T>C, XM_047419407.1:c.1511T>C, XM_047419401.1:c.1511T>C, XM_047419404.1:c.1511T>C, XM_047419405.1:c.1511T>C, XM_047419410.1:c.1331T>C, XM_047419408.1:c.1331T>C, XM_047419412.1:c.1331T>C, NP_115814.1:p.Val469Ala, NP_001007103.1:p.Val444Ala, NP_001333480.1:p.Val444Ala, NP_001333479.1:p.Val444Ala, XP_005267218.1:p.Val469Ala, XP_006715639.1:p.Val504Ala, XP_006715641.1:p.Val469Ala, XP_011534481.1:p.Val469Ala, XP_011534482.1:p.Val469Ala, XP_011534486.1:p.Val469Ala, XP_011534483.1:p.Val469Ala, XP_047275358.1:p.Val504Ala, XP_047275359.1:p.Val504Ala, XP_047275365.1:p.Val444Ala, XP_047275356.1:p.Val504Ala, XP_047275363.1:p.Val504Ala, XP_047275357.1:p.Val504Ala, XP_047275360.1:p.Val504Ala, XP_047275361.1:p.Val504Ala, XP_047275366.1:p.Val444Ala, XP_047275364.1:p.Val444Ala, XP_047275368.1:p.Val444Ala

                                    18.

                                    rs1463889794 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:130133619 (GRCh38)
                                      6:130454764 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:130133618:G:A
                                      Gene:
                                      L3MBTL3 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.130133619G>A, NC_000006.11:g.130454764G>A, NG_051942.1:g.120251G>A, NM_032438.4:c.2134G>A, NM_032438.3:c.2134G>A, NM_032438.2:c.2134G>A, NM_001007102.4:c.2059G>A, NM_001007102.3:c.2059G>A, NM_001007102.2:c.2059G>A, NM_001346551.2:c.2059G>A, NM_001346551.1:c.2059G>A, NM_001346550.2:c.2059G>A, NM_001346550.1:c.2059G>A, XM_005267161.5:c.2134G>A, XM_005267161.4:c.2134G>A, XM_005267161.3:c.2134G>A, XM_005267161.2:c.2134G>A, XM_005267161.1:c.2134G>A, XM_006715576.4:c.2239G>A, XM_006715576.3:c.2239G>A, XM_006715576.2:c.2239G>A, XM_006715576.1:c.2239G>A, XM_006715578.4:c.2134G>A, XM_006715578.3:c.2134G>A, XM_006715578.2:c.2134G>A, XM_006715578.1:c.2134G>A, XM_011536179.4:c.2134G>A, XM_011536179.3:c.2134G>A, XM_011536179.2:c.2134G>A, XM_011536179.1:c.2134G>A, XM_011536180.3:c.2134G>A, XM_011536180.2:c.2134G>A, XM_011536180.1:c.2134G>A, XM_011536184.3:c.2134G>A, XM_011536184.2:c.2134G>A, XM_011536184.1:c.2134G>A, XM_011536181.3:c.2134G>A, XM_011536181.2:c.2134G>A, XM_011536181.1:c.2134G>A, XM_047419402.1:c.2239G>A, XM_047419403.1:c.2239G>A, XM_047419409.1:c.2059G>A, XM_047419400.1:c.2239G>A, XM_047419407.1:c.2239G>A, XM_047419401.1:c.2239G>A, XM_047419404.1:c.2239G>A, XM_047419405.1:c.2239G>A, XM_047419410.1:c.2059G>A, XM_047419408.1:c.2059G>A, XM_047419412.1:c.2059G>A, NP_115814.1:p.Glu712Lys, NP_001007103.1:p.Glu687Lys, NP_001333480.1:p.Glu687Lys, NP_001333479.1:p.Glu687Lys, XP_005267218.1:p.Glu712Lys, XP_006715639.1:p.Glu747Lys, XP_006715641.1:p.Glu712Lys, XP_011534481.1:p.Glu712Lys, XP_011534482.1:p.Glu712Lys, XP_011534486.1:p.Glu712Lys, XP_011534483.1:p.Glu712Lys, XP_047275358.1:p.Glu747Lys, XP_047275359.1:p.Glu747Lys, XP_047275365.1:p.Glu687Lys, XP_047275356.1:p.Glu747Lys, XP_047275363.1:p.Glu747Lys, XP_047275357.1:p.Glu747Lys, XP_047275360.1:p.Glu747Lys, XP_047275361.1:p.Glu747Lys, XP_047275366.1:p.Glu687Lys, XP_047275364.1:p.Glu687Lys, XP_047275368.1:p.Glu687Lys

                                      19.

                                      rs1463782746 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        6:130052893 (GRCh38)
                                        6:130374038 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:130052892:A:G
                                        Gene:
                                        L3MBTL3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000006.12:g.130052893A>G, NC_000006.11:g.130374038A>G, NG_051942.1:g.39525A>G, NM_032438.4:c.484A>G, NM_032438.3:c.484A>G, NM_032438.2:c.484A>G, NM_001007102.4:c.409A>G, NM_001007102.3:c.409A>G, NM_001007102.2:c.409A>G, NM_001346551.2:c.409A>G, NM_001346551.1:c.409A>G, NM_001346550.2:c.409A>G, NM_001346550.1:c.409A>G, XM_005267161.5:c.484A>G, XM_005267161.4:c.484A>G, XM_005267161.3:c.484A>G, XM_005267161.2:c.484A>G, XM_005267161.1:c.484A>G, XM_006715576.4:c.589A>G, XM_006715576.3:c.589A>G, XM_006715576.2:c.589A>G, XM_006715576.1:c.589A>G, XM_006715578.4:c.484A>G, XM_006715578.3:c.484A>G, XM_006715578.2:c.484A>G, XM_006715578.1:c.484A>G, XM_011536179.4:c.484A>G, XM_011536179.3:c.484A>G, XM_011536179.2:c.484A>G, XM_011536179.1:c.484A>G, XM_011536180.3:c.484A>G, XM_011536180.2:c.484A>G, XM_011536180.1:c.484A>G, XM_011536184.3:c.484A>G, XM_011536184.2:c.484A>G, XM_011536184.1:c.484A>G, XM_011536181.3:c.484A>G, XM_011536181.2:c.484A>G, XM_011536181.1:c.484A>G, XM_047419402.1:c.589A>G, XM_047419403.1:c.589A>G, XM_047419409.1:c.409A>G, XM_047419400.1:c.589A>G, XM_047419407.1:c.589A>G, XM_047419401.1:c.589A>G, XM_047419404.1:c.589A>G, XM_047419405.1:c.589A>G, XM_047419410.1:c.409A>G, XM_047419408.1:c.409A>G, XM_047419412.1:c.409A>G, NP_115814.1:p.Asn162Asp, NP_001007103.1:p.Asn137Asp, NP_001333480.1:p.Asn137Asp, NP_001333479.1:p.Asn137Asp, XP_005267218.1:p.Asn162Asp, XP_006715639.1:p.Asn197Asp, XP_006715641.1:p.Asn162Asp, XP_011534481.1:p.Asn162Asp, XP_011534482.1:p.Asn162Asp, XP_011534486.1:p.Asn162Asp, XP_011534483.1:p.Asn162Asp, XP_047275358.1:p.Asn197Asp, XP_047275359.1:p.Asn197Asp, XP_047275365.1:p.Asn137Asp, XP_047275356.1:p.Asn197Asp, XP_047275363.1:p.Asn197Asp, XP_047275357.1:p.Asn197Asp, XP_047275360.1:p.Asn197Asp, XP_047275361.1:p.Asn197Asp, XP_047275366.1:p.Asn137Asp, XP_047275364.1:p.Asn137Asp, XP_047275368.1:p.Asn137Asp

                                        20.

                                        rs1462030876 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          6:130104520 (GRCh38)
                                          6:130425665 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:130104519:T:A
                                          Gene:
                                          L3MBTL3 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000006.12:g.130104520T>A, NC_000006.11:g.130425665T>A, NG_051942.1:g.91152T>A, NM_032438.4:c.1831T>A, NM_032438.3:c.1831T>A, NM_032438.2:c.1831T>A, NM_001007102.4:c.1756T>A, NM_001007102.3:c.1756T>A, NM_001007102.2:c.1756T>A, NM_001346551.2:c.1756T>A, NM_001346551.1:c.1756T>A, NM_001346550.2:c.1756T>A, NM_001346550.1:c.1756T>A, XM_005267161.5:c.1831T>A, XM_005267161.4:c.1831T>A, XM_005267161.3:c.1831T>A, XM_005267161.2:c.1831T>A, XM_005267161.1:c.1831T>A, XM_006715576.4:c.1936T>A, XM_006715576.3:c.1936T>A, XM_006715576.2:c.1936T>A, XM_006715576.1:c.1936T>A, XM_006715578.4:c.1831T>A, XM_006715578.3:c.1831T>A, XM_006715578.2:c.1831T>A, XM_006715578.1:c.1831T>A, XM_011536179.4:c.1831T>A, XM_011536179.3:c.1831T>A, XM_011536179.2:c.1831T>A, XM_011536179.1:c.1831T>A, XM_011536180.3:c.1831T>A, XM_011536180.2:c.1831T>A, XM_011536180.1:c.1831T>A, XM_011536184.3:c.1831T>A, XM_011536184.2:c.1831T>A, XM_011536184.1:c.1831T>A, XM_011536181.3:c.1831T>A, XM_011536181.2:c.1831T>A, XM_011536181.1:c.1831T>A, XM_047419402.1:c.1936T>A, XM_047419403.1:c.1936T>A, XM_047419409.1:c.1756T>A, XM_047419400.1:c.1936T>A, XM_047419407.1:c.1936T>A, XM_047419401.1:c.1936T>A, XM_047419404.1:c.1936T>A, XM_047419405.1:c.1936T>A, XM_047419410.1:c.1756T>A, XM_047419408.1:c.1756T>A, XM_047419412.1:c.1756T>A, NP_115814.1:p.Phe611Ile, NP_001007103.1:p.Phe586Ile, NP_001333480.1:p.Phe586Ile, NP_001333479.1:p.Phe586Ile, XP_005267218.1:p.Phe611Ile, XP_006715639.1:p.Phe646Ile, XP_006715641.1:p.Phe611Ile, XP_011534481.1:p.Phe611Ile, XP_011534482.1:p.Phe611Ile, XP_011534486.1:p.Phe611Ile, XP_011534483.1:p.Phe611Ile, XP_047275358.1:p.Phe646Ile, XP_047275359.1:p.Phe646Ile, XP_047275365.1:p.Phe586Ile, XP_047275356.1:p.Phe646Ile, XP_047275363.1:p.Phe646Ile, XP_047275357.1:p.Phe646Ile, XP_047275360.1:p.Phe646Ile, XP_047275361.1:p.Phe646Ile, XP_047275366.1:p.Phe586Ile, XP_047275364.1:p.Phe586Ile, XP_047275368.1:p.Phe586Ile

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