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Items: 1 to 20 of 620

1.

rs1488642778 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    10:14909004 (GRCh38)
    10:14951003 (GRCh37)
    Canonical SPDI:
    NC_000010.11:14909003:T:C
    Gene:
    DCLRE1C (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.14909004T>C, NC_000010.10:g.14951003T>C, NG_007276.1:g.50092A>G, NM_022487.4:c.1138A>G, NM_022487.3:c.1138A>G, NM_022487.2:c.1138A>G, NM_001033858.3:c.1123A>G, NM_001033858.2:c.1123A>G, NM_001033858.1:c.1123A>G, NM_001033857.3:c.1123A>G, NM_001033857.2:c.1123A>G, NM_001033857.1:c.1123A>G, NM_001033855.3:c.1483A>G, NM_001033855.2:c.1483A>G, NM_001033855.1:c.1483A>G, NM_001289079.2:c.1123A>G, NM_001289079.1:c.1123A>G, NR_110297.2:n.1922A>G, NR_110297.1:n.2258A>G, NM_001289077.2:c.1123A>G, NM_001289077.1:c.1123A>G, NR_146961.2:n.1663A>G, NR_146961.1:n.1999A>G, NM_001289078.2:c.1138A>G, NM_001289078.1:c.1138A>G, NM_001289076.2:c.1138A>G, NM_001289076.1:c.1138A>G, NR_146962.1:n.1970A>G, XM_011519620.4:c.*2316A>G, NM_001350967.2:c.1123A>G, NM_001350967.1:c.1123A>G, NM_001350965.2:c.1483A>G, NM_001350965.1:c.1483A>G, NM_001350966.2:c.1138A>G, NM_001350966.1:c.1138A>G, XM_047425652.1:c.1123A>G, XM_047425651.1:c.1138A>G, XM_047425649.1:c.1138A>G, XM_047425650.1:c.1138A>G, XM_047425648.1:c.1138A>G, NR_146960.1:n.1850A>G, NP_071932.2:p.Arg380Gly, NP_001029030.1:p.Arg375Gly, NP_001029029.1:p.Arg375Gly, NP_001029027.1:p.Arg495Gly, NP_001276008.1:p.Arg375Gly, NP_001276006.1:p.Arg375Gly, NP_001276007.1:p.Arg380Gly, NP_001276005.1:p.Arg380Gly, NP_001337896.1:p.Arg375Gly, NP_001337894.1:p.Arg495Gly, NP_001337895.1:p.Arg380Gly, XP_047281608.1:p.Arg375Gly, XP_047281607.1:p.Arg380Gly, XP_047281605.1:p.Arg380Gly, XP_047281606.1:p.Arg380Gly, XP_047281604.1:p.Arg380Gly

    2.

    rs1487661616 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      10:14908701 (GRCh38)
      10:14950700 (GRCh37)
      Canonical SPDI:
      NC_000010.11:14908700:T:G
      Gene:
      DCLRE1C (Varview)
      Functional Consequence:
      3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.14908701T>G, NC_000010.10:g.14950700T>G, NG_007276.1:g.50395A>C, NM_022487.4:c.1441A>C, NM_022487.3:c.1441A>C, NM_022487.2:c.1441A>C, NM_001033858.3:c.1426A>C, NM_001033858.2:c.1426A>C, NM_001033858.1:c.1426A>C, NM_001033857.3:c.1426A>C, NM_001033857.2:c.1426A>C, NM_001033857.1:c.1426A>C, NM_001033855.3:c.1786A>C, NM_001033855.2:c.1786A>C, NM_001033855.1:c.1786A>C, NM_001289079.2:c.1426A>C, NM_001289079.1:c.1426A>C, NR_110297.2:n.2225A>C, NR_110297.1:n.2561A>C, NM_001289077.2:c.1426A>C, NM_001289077.1:c.1426A>C, NR_146961.2:n.1966A>C, NR_146961.1:n.2302A>C, NM_001289078.2:c.1441A>C, NM_001289078.1:c.1441A>C, NM_001289076.2:c.1441A>C, NM_001289076.1:c.1441A>C, NR_146962.1:n.2273A>C, XM_011519620.4:c.*2619A>C, XM_047425652.1:c.1426A>C, XM_047425651.1:c.1441A>C, XM_047425649.1:c.1441A>C, XM_047425650.1:c.1441A>C, XM_047425648.1:c.1441A>C, NP_071932.2:p.Ile481Leu, NP_001029030.1:p.Ile476Leu, NP_001029029.1:p.Ile476Leu, NP_001029027.1:p.Ile596Leu, NP_001276008.1:p.Ile476Leu, NP_001276006.1:p.Ile476Leu, NP_001276007.1:p.Ile481Leu, NP_001276005.1:p.Ile481Leu, XP_047281608.1:p.Ile476Leu, XP_047281607.1:p.Ile481Leu, XP_047281605.1:p.Ile481Leu, XP_047281606.1:p.Ile481Leu, XP_047281604.1:p.Ile481Leu

      3.

      rs1487199232 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        10:14908437 (GRCh38)
        10:14950436 (GRCh37)
        Canonical SPDI:
        NC_000010.11:14908436:T:A
        Gene:
        DCLRE1C (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant,stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000021/3 (GnomAD)
        HGVS:
        NC_000010.11:g.14908437T>A, NC_000010.10:g.14950436T>A, NG_007276.1:g.50659A>T, NM_022487.4:c.1705A>T, NM_022487.3:c.1705A>T, NM_022487.2:c.1705A>T, NM_001033858.3:c.1690A>T, NM_001033858.2:c.1690A>T, NM_001033858.1:c.1690A>T, NM_001033857.3:c.1690A>T, NM_001033857.2:c.1690A>T, NM_001033857.1:c.1690A>T, NM_001033855.3:c.2050A>T, NM_001033855.2:c.2050A>T, NM_001033855.1:c.2050A>T, NM_001289079.2:c.1690A>T, NM_001289079.1:c.1690A>T, NR_110297.2:n.2489A>T, NR_110297.1:n.2825A>T, NM_001289077.2:c.1690A>T, NM_001289077.1:c.1690A>T, NR_146961.2:n.2230A>T, NR_146961.1:n.2566A>T, NM_001289078.2:c.1705A>T, NM_001289078.1:c.1705A>T, NM_001289076.2:c.1705A>T, NM_001289076.1:c.1705A>T, NR_146962.1:n.2537A>T, XM_011519620.4:c.*2883A>T, XM_047425652.1:c.1690A>T, XM_047425651.1:c.1705A>T, XM_047425649.1:c.1705A>T, XM_047425650.1:c.1705A>T, XM_047425648.1:c.1705A>T, NP_071932.2:p.Lys569Ter, NP_001029030.1:p.Lys564Ter, NP_001029029.1:p.Lys564Ter, NP_001029027.1:p.Lys684Ter, NP_001276008.1:p.Lys564Ter, NP_001276006.1:p.Lys564Ter, NP_001276007.1:p.Lys569Ter, NP_001276005.1:p.Lys569Ter, XP_047281608.1:p.Lys564Ter, XP_047281607.1:p.Lys569Ter, XP_047281605.1:p.Lys569Ter, XP_047281606.1:p.Lys569Ter, XP_047281604.1:p.Lys569Ter

        4.

        rs1485367298 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,T [Show Flanks]
          Chromosome:
          10:14923058 (GRCh38)
          10:14965057 (GRCh37)
          Canonical SPDI:
          NC_000010.11:14923057:G:A,NC_000010.11:14923057:G:T
          Gene:
          DCLRE1C (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000031/1 (ALFA)
          A=0.000008/2 (GnomAD_exomes)
          T=0.000026/7 (TOPMED)
          HGVS:
          NC_000010.11:g.14923058G>A, NC_000010.11:g.14923058G>T, NC_000010.10:g.14965057G>A, NC_000010.10:g.14965057G>T, NG_007276.1:g.36038C>T, NG_007276.1:g.36038C>A, NM_022487.4:c.639C>T, NM_022487.4:c.639C>A, NM_022487.3:c.639C>T, NM_022487.3:c.639C>A, NM_022487.2:c.639C>T, NM_022487.2:c.639C>A, NM_001033858.3:c.624C>T, NM_001033858.3:c.624C>A, NM_001033858.2:c.624C>T, NM_001033858.2:c.624C>A, NM_001033858.1:c.624C>T, NM_001033858.1:c.624C>A, NM_001033857.3:c.624C>T, NM_001033857.3:c.624C>A, NM_001033857.2:c.624C>T, NM_001033857.2:c.624C>A, NM_001033857.1:c.624C>T, NM_001033857.1:c.624C>A, NM_001033855.3:c.984C>T, NM_001033855.3:c.984C>A, NM_001033855.2:c.984C>T, NM_001033855.2:c.984C>A, NM_001033855.1:c.984C>T, NM_001033855.1:c.984C>A, NM_001289079.2:c.624C>T, NM_001289079.2:c.624C>A, NM_001289079.1:c.624C>T, NM_001289079.1:c.624C>A, NR_110297.2:n.1282C>T, NR_110297.2:n.1282C>A, NR_110297.1:n.1618C>T, NR_110297.1:n.1618C>A, NM_001289077.2:c.624C>T, NM_001289077.2:c.624C>A, NM_001289077.1:c.624C>T, NM_001289077.1:c.624C>A, NR_146961.2:n.1099C>T, NR_146961.2:n.1099C>A, NR_146961.1:n.1435C>T, NR_146961.1:n.1435C>A, NM_001289078.2:c.639C>T, NM_001289078.2:c.639C>A, NM_001289078.1:c.639C>T, NM_001289078.1:c.639C>A, NM_001289076.2:c.639C>T, NM_001289076.2:c.639C>A, NM_001289076.1:c.639C>T, NM_001289076.1:c.639C>A, NR_146962.1:n.1406C>T, NR_146962.1:n.1406C>A, XM_011519620.4:c.984C>T, XM_011519620.4:c.984C>A, XM_011519620.3:c.984C>T, XM_011519620.3:c.984C>A, XM_011519620.2:c.984C>T, XM_011519620.2:c.984C>A, XM_011519620.1:c.984C>T, XM_011519620.1:c.984C>A, XR_930515.3:n.1351C>T, XR_930515.3:n.1351C>A, XR_930515.2:n.1273C>T, XR_930515.2:n.1273C>A, XR_930515.1:n.1026C>T, XR_930515.1:n.1026C>A, XM_011519621.3:c.929C>T, XM_011519621.3:c.929C>A, XM_011519621.2:c.929C>T, XM_011519621.2:c.929C>A, XM_011519621.1:c.929C>T, XM_011519621.1:c.929C>A, NM_001350967.2:c.624C>T, NM_001350967.2:c.624C>A, NM_001350967.1:c.624C>T, NM_001350967.1:c.624C>A, NM_001350965.2:c.984C>T, NM_001350965.2:c.984C>A, NM_001350965.1:c.984C>T, NM_001350965.1:c.984C>A, NM_001350966.2:c.639C>T, NM_001350966.2:c.639C>A, NM_001350966.1:c.639C>T, NM_001350966.1:c.639C>A, XM_047425652.1:c.624C>T, XM_047425652.1:c.624C>A, XM_047425651.1:c.639C>T, XM_047425651.1:c.639C>A, XM_047425649.1:c.639C>T, XM_047425649.1:c.639C>A, XM_047425650.1:c.639C>T, XM_047425650.1:c.639C>A, XM_047425648.1:c.639C>T, XM_047425648.1:c.639C>A, NR_146960.1:n.1351C>T, NR_146960.1:n.1351C>A, NP_071932.2:p.Phe213Leu, NP_001029030.1:p.Phe208Leu, NP_001029029.1:p.Phe208Leu, NP_001029027.1:p.Phe328Leu, NP_001276008.1:p.Phe208Leu, NP_001276006.1:p.Phe208Leu, NP_001276007.1:p.Phe213Leu, NP_001276005.1:p.Phe213Leu, XP_011517922.1:p.Phe328Leu, XP_011517923.1:p.Ser310Phe, XP_011517923.1:p.Ser310Tyr, NP_001337896.1:p.Phe208Leu, NP_001337894.1:p.Phe328Leu, NP_001337895.1:p.Phe213Leu, XP_047281608.1:p.Phe208Leu, XP_047281607.1:p.Phe213Leu, XP_047281605.1:p.Phe213Leu, XP_047281606.1:p.Phe213Leu, XP_047281604.1:p.Phe213Leu

          5.

          rs1484385515 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            10:14909315 (GRCh38)
            10:14951314 (GRCh37)
            Canonical SPDI:
            NC_000010.11:14909314:T:G
            Gene:
            DCLRE1C (Varview)
            Functional Consequence:
            3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000010.11:g.14909315T>G, NC_000010.10:g.14951314T>G, NG_007276.1:g.49781A>C, NM_022487.4:c.827A>C, NM_022487.3:c.827A>C, NM_022487.2:c.827A>C, NM_001033858.3:c.812A>C, NM_001033858.2:c.812A>C, NM_001033858.1:c.812A>C, NM_001033857.3:c.812A>C, NM_001033857.2:c.812A>C, NM_001033857.1:c.812A>C, NM_001033855.3:c.1172A>C, NM_001033855.2:c.1172A>C, NM_001033855.1:c.1172A>C, NM_001289079.2:c.812A>C, NM_001289079.1:c.812A>C, NR_110297.2:n.1611A>C, NR_110297.1:n.1947A>C, NM_001289077.2:c.812A>C, NM_001289077.1:c.812A>C, NR_146961.2:n.1352A>C, NR_146961.1:n.1688A>C, NM_001289078.2:c.827A>C, NM_001289078.1:c.827A>C, NM_001289076.2:c.827A>C, NM_001289076.1:c.827A>C, NR_146962.1:n.1659A>C, XM_011519620.4:c.*2005A>C, NM_001350967.2:c.812A>C, NM_001350967.1:c.812A>C, NM_001350965.2:c.1172A>C, NM_001350965.1:c.1172A>C, NM_001350966.2:c.827A>C, NM_001350966.1:c.827A>C, XM_047425652.1:c.812A>C, XM_047425651.1:c.827A>C, XM_047425649.1:c.827A>C, XM_047425650.1:c.827A>C, XM_047425648.1:c.827A>C, NR_146960.1:n.1539A>C, NP_071932.2:p.Tyr276Ser, NP_001029030.1:p.Tyr271Ser, NP_001029029.1:p.Tyr271Ser, NP_001029027.1:p.Tyr391Ser, NP_001276008.1:p.Tyr271Ser, NP_001276006.1:p.Tyr271Ser, NP_001276007.1:p.Tyr276Ser, NP_001276005.1:p.Tyr276Ser, NP_001337896.1:p.Tyr271Ser, NP_001337894.1:p.Tyr391Ser, NP_001337895.1:p.Tyr276Ser, XP_047281608.1:p.Tyr271Ser, XP_047281607.1:p.Tyr276Ser, XP_047281605.1:p.Tyr276Ser, XP_047281606.1:p.Tyr276Ser, XP_047281604.1:p.Tyr276Ser

            6.

            rs1482857000 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:14908922 (GRCh38)
              10:14950921 (GRCh37)
              Canonical SPDI:
              NC_000010.11:14908921:A:G
              Gene:
              DCLRE1C (Varview)
              Functional Consequence:
              3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000062/2 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000004/1 (TOPMED)
              G=0.000021/3 (GnomAD)
              HGVS:
              NC_000010.11:g.14908922A>G, NC_000010.10:g.14950921A>G, NG_007276.1:g.50174T>C, NM_022487.4:c.1220T>C, NM_022487.3:c.1220T>C, NM_022487.2:c.1220T>C, NM_001033858.3:c.1205T>C, NM_001033858.2:c.1205T>C, NM_001033858.1:c.1205T>C, NM_001033857.3:c.1205T>C, NM_001033857.2:c.1205T>C, NM_001033857.1:c.1205T>C, NM_001033855.3:c.1565T>C, NM_001033855.2:c.1565T>C, NM_001033855.1:c.1565T>C, NM_001289079.2:c.1205T>C, NM_001289079.1:c.1205T>C, NR_110297.2:n.2004T>C, NR_110297.1:n.2340T>C, NM_001289077.2:c.1205T>C, NM_001289077.1:c.1205T>C, NR_146961.2:n.1745T>C, NR_146961.1:n.2081T>C, NM_001289078.2:c.1220T>C, NM_001289078.1:c.1220T>C, NM_001289076.2:c.1220T>C, NM_001289076.1:c.1220T>C, NR_146962.1:n.2052T>C, XM_011519620.4:c.*2398T>C, NM_001350967.2:c.1205T>C, NM_001350967.1:c.1205T>C, NM_001350965.2:c.1565T>C, NM_001350965.1:c.1565T>C, NM_001350966.2:c.1220T>C, NM_001350966.1:c.1220T>C, XM_047425652.1:c.1205T>C, XM_047425651.1:c.1220T>C, XM_047425649.1:c.1220T>C, XM_047425650.1:c.1220T>C, XM_047425648.1:c.1220T>C, NR_146960.1:n.1932T>C, NP_071932.2:p.Phe407Ser, NP_001029030.1:p.Phe402Ser, NP_001029029.1:p.Phe402Ser, NP_001029027.1:p.Phe522Ser, NP_001276008.1:p.Phe402Ser, NP_001276006.1:p.Phe402Ser, NP_001276007.1:p.Phe407Ser, NP_001276005.1:p.Phe407Ser, NP_001337896.1:p.Phe402Ser, NP_001337894.1:p.Phe522Ser, NP_001337895.1:p.Phe407Ser, XP_047281608.1:p.Phe402Ser, XP_047281607.1:p.Phe407Ser, XP_047281605.1:p.Phe407Ser, XP_047281606.1:p.Phe407Ser, XP_047281604.1:p.Phe407Ser

              7.

              rs1481503798 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                10:14923035 (GRCh38)
                10:14965034 (GRCh37)
                Canonical SPDI:
                NC_000010.11:14923034:T:G
                Gene:
                DCLRE1C (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000010.11:g.14923035T>G, NC_000010.10:g.14965034T>G, NG_007276.1:g.36061A>C, NM_022487.4:c.662A>C, NM_022487.3:c.662A>C, NM_022487.2:c.662A>C, NM_001033858.3:c.647A>C, NM_001033858.2:c.647A>C, NM_001033858.1:c.647A>C, NM_001033857.3:c.647A>C, NM_001033857.2:c.647A>C, NM_001033857.1:c.647A>C, NM_001033855.3:c.1007A>C, NM_001033855.2:c.1007A>C, NM_001033855.1:c.1007A>C, NM_001289079.2:c.647A>C, NM_001289079.1:c.647A>C, NR_110297.2:n.1305A>C, NR_110297.1:n.1641A>C, NM_001289077.2:c.647A>C, NM_001289077.1:c.647A>C, NR_146961.2:n.1122A>C, NR_146961.1:n.1458A>C, NM_001289078.2:c.662A>C, NM_001289078.1:c.662A>C, NM_001289076.2:c.662A>C, NM_001289076.1:c.662A>C, NR_146962.1:n.1429A>C, XM_011519620.4:c.1007A>C, XM_011519620.3:c.1007A>C, XM_011519620.2:c.1007A>C, XM_011519620.1:c.1007A>C, XR_930515.3:n.1374A>C, XR_930515.2:n.1296A>C, XR_930515.1:n.1049A>C, XM_011519621.3:c.*19A>C, XM_011519621.2:c.*19A>C, XM_011519621.1:c.*19A>C, NM_001350967.2:c.647A>C, NM_001350967.1:c.647A>C, NM_001350965.2:c.1007A>C, NM_001350965.1:c.1007A>C, NM_001350966.2:c.662A>C, NM_001350966.1:c.662A>C, XM_047425652.1:c.647A>C, XM_047425651.1:c.662A>C, XM_047425649.1:c.662A>C, XM_047425650.1:c.662A>C, XM_047425648.1:c.662A>C, NR_146960.1:n.1374A>C, NP_071932.2:p.Asn221Thr, NP_001029030.1:p.Asn216Thr, NP_001029029.1:p.Asn216Thr, NP_001029027.1:p.Asn336Thr, NP_001276008.1:p.Asn216Thr, NP_001276006.1:p.Asn216Thr, NP_001276007.1:p.Asn221Thr, NP_001276005.1:p.Asn221Thr, XP_011517922.1:p.Asn336Thr, NP_001337896.1:p.Asn216Thr, NP_001337894.1:p.Asn336Thr, NP_001337895.1:p.Asn221Thr, XP_047281608.1:p.Asn216Thr, XP_047281607.1:p.Asn221Thr, XP_047281605.1:p.Asn221Thr, XP_047281606.1:p.Asn221Thr, XP_047281604.1:p.Asn221Thr

                8.

                rs1480062539 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:14909169 (GRCh38)
                  10:14951168 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:14909168:A:G
                  Gene:
                  DCLRE1C (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_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_000010.11:g.14909169A>G, NC_000010.10:g.14951168A>G, NG_007276.1:g.49927T>C, NM_022487.4:c.973T>C, NM_022487.3:c.973T>C, NM_022487.2:c.973T>C, NM_001033858.3:c.958T>C, NM_001033858.2:c.958T>C, NM_001033858.1:c.958T>C, NM_001033857.3:c.958T>C, NM_001033857.2:c.958T>C, NM_001033857.1:c.958T>C, NM_001033855.3:c.1318T>C, NM_001033855.2:c.1318T>C, NM_001033855.1:c.1318T>C, NM_001289079.2:c.958T>C, NM_001289079.1:c.958T>C, NR_110297.2:n.1757T>C, NR_110297.1:n.2093T>C, NM_001289077.2:c.958T>C, NM_001289077.1:c.958T>C, NR_146961.2:n.1498T>C, NR_146961.1:n.1834T>C, NM_001289078.2:c.973T>C, NM_001289078.1:c.973T>C, NM_001289076.2:c.973T>C, NM_001289076.1:c.973T>C, NR_146962.1:n.1805T>C, XM_011519620.4:c.*2151T>C, NM_001350967.2:c.958T>C, NM_001350967.1:c.958T>C, NM_001350965.2:c.1318T>C, NM_001350965.1:c.1318T>C, NM_001350966.2:c.973T>C, NM_001350966.1:c.973T>C, XM_047425652.1:c.958T>C, XM_047425651.1:c.973T>C, XM_047425649.1:c.973T>C, XM_047425650.1:c.973T>C, XM_047425648.1:c.973T>C, NR_146960.1:n.1685T>C, NP_071932.2:p.Cys325Arg, NP_001029030.1:p.Cys320Arg, NP_001029029.1:p.Cys320Arg, NP_001029027.1:p.Cys440Arg, NP_001276008.1:p.Cys320Arg, NP_001276006.1:p.Cys320Arg, NP_001276007.1:p.Cys325Arg, NP_001276005.1:p.Cys325Arg, NP_001337896.1:p.Cys320Arg, NP_001337894.1:p.Cys440Arg, NP_001337895.1:p.Cys325Arg, XP_047281608.1:p.Cys320Arg, XP_047281607.1:p.Cys325Arg, XP_047281605.1:p.Cys325Arg, XP_047281606.1:p.Cys325Arg, XP_047281604.1:p.Cys325Arg

                  9.

                  rs1479633182 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    10:14932955 (GRCh38)
                    10:14974954 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:14932954:C:T
                    Gene:
                    DCLRE1C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000010.11:g.14932955C>T, NC_000010.10:g.14974954C>T, NG_007276.1:g.26141G>A, NM_022487.4:c.334G>A, NM_022487.3:c.334G>A, NM_022487.2:c.334G>A, NM_001033858.3:c.319G>A, NM_001033858.2:c.319G>A, NM_001033858.1:c.319G>A, NM_001033857.3:c.319G>A, NM_001033857.2:c.319G>A, NM_001033857.1:c.319G>A, NM_001033855.3:c.679G>A, NM_001033855.2:c.679G>A, NM_001033855.1:c.679G>A, NM_001289079.2:c.319G>A, NM_001289079.1:c.319G>A, NR_110297.2:n.977G>A, NR_110297.1:n.1313G>A, NM_001289077.2:c.319G>A, NM_001289077.1:c.319G>A, NR_146961.2:n.794G>A, NR_146961.1:n.1130G>A, NM_001289078.2:c.334G>A, NM_001289078.1:c.334G>A, NM_001289076.2:c.334G>A, NM_001289076.1:c.334G>A, NR_146962.1:n.1101G>A, XM_011519620.4:c.679G>A, XM_011519620.3:c.679G>A, XM_011519620.2:c.679G>A, XM_011519620.1:c.679G>A, XR_930515.3:n.1101G>A, XR_930515.2:n.1023G>A, XR_930515.1:n.776G>A, XM_011519621.3:c.679G>A, XM_011519621.2:c.679G>A, XM_011519621.1:c.679G>A, NM_001350967.2:c.319G>A, NM_001350967.1:c.319G>A, NM_001350965.2:c.679G>A, NM_001350965.1:c.679G>A, NM_001350966.2:c.334G>A, NM_001350966.1:c.334G>A, XM_047425652.1:c.319G>A, XM_047425651.1:c.334G>A, XM_047425649.1:c.334G>A, XM_047425650.1:c.334G>A, XM_047425648.1:c.334G>A, NR_146960.1:n.1101G>A, NP_071932.2:p.Val112Ile, NP_001029030.1:p.Val107Ile, NP_001029029.1:p.Val107Ile, NP_001029027.1:p.Val227Ile, NP_001276008.1:p.Val107Ile, NP_001276006.1:p.Val107Ile, NP_001276007.1:p.Val112Ile, NP_001276005.1:p.Val112Ile, XP_011517922.1:p.Val227Ile, XP_011517923.1:p.Val227Ile, NP_001337896.1:p.Val107Ile, NP_001337894.1:p.Val227Ile, NP_001337895.1:p.Val112Ile, XP_047281608.1:p.Val107Ile, XP_047281607.1:p.Val112Ile, XP_047281605.1:p.Val112Ile, XP_047281606.1:p.Val112Ile, XP_047281604.1:p.Val112Ile

                    10.

                    rs1478223932 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      10:14908926 (GRCh38)
                      10:14950925 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:14908925:G:T
                      Gene:
                      DCLRE1C (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000010.11:g.14908926G>T, NC_000010.10:g.14950925G>T, NG_007276.1:g.50170C>A, NM_022487.4:c.1216C>A, NM_022487.3:c.1216C>A, NM_022487.2:c.1216C>A, NM_001033858.3:c.1201C>A, NM_001033858.2:c.1201C>A, NM_001033858.1:c.1201C>A, NM_001033857.3:c.1201C>A, NM_001033857.2:c.1201C>A, NM_001033857.1:c.1201C>A, NM_001033855.3:c.1561C>A, NM_001033855.2:c.1561C>A, NM_001033855.1:c.1561C>A, NM_001289079.2:c.1201C>A, NM_001289079.1:c.1201C>A, NR_110297.2:n.2000C>A, NR_110297.1:n.2336C>A, NM_001289077.2:c.1201C>A, NM_001289077.1:c.1201C>A, NR_146961.2:n.1741C>A, NR_146961.1:n.2077C>A, NM_001289078.2:c.1216C>A, NM_001289078.1:c.1216C>A, NM_001289076.2:c.1216C>A, NM_001289076.1:c.1216C>A, NR_146962.1:n.2048C>A, XM_011519620.4:c.*2394C>A, NM_001350967.2:c.1201C>A, NM_001350967.1:c.1201C>A, NM_001350965.2:c.1561C>A, NM_001350965.1:c.1561C>A, NM_001350966.2:c.1216C>A, NM_001350966.1:c.1216C>A, XM_047425652.1:c.1201C>A, XM_047425651.1:c.1216C>A, XM_047425649.1:c.1216C>A, XM_047425650.1:c.1216C>A, XM_047425648.1:c.1216C>A, NR_146960.1:n.1928C>A, NP_071932.2:p.Leu406Ile, NP_001029030.1:p.Leu401Ile, NP_001029029.1:p.Leu401Ile, NP_001029027.1:p.Leu521Ile, NP_001276008.1:p.Leu401Ile, NP_001276006.1:p.Leu401Ile, NP_001276007.1:p.Leu406Ile, NP_001276005.1:p.Leu406Ile, NP_001337896.1:p.Leu401Ile, NP_001337894.1:p.Leu521Ile, NP_001337895.1:p.Leu406Ile, XP_047281608.1:p.Leu401Ile, XP_047281607.1:p.Leu406Ile, XP_047281605.1:p.Leu406Ile, XP_047281606.1:p.Leu406Ile, XP_047281604.1:p.Leu406Ile

                      11.

                      rs1477247145 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C,G [Show Flanks]
                        Chromosome:
                        10:14908663 (GRCh38)
                        10:14950662 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:14908662:T:C,NC_000010.11:14908662:T:G
                        Gene:
                        DCLRE1C (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,intron_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000010.11:g.14908663T>C, NC_000010.11:g.14908663T>G, NC_000010.10:g.14950662T>C, NC_000010.10:g.14950662T>G, NG_007276.1:g.50433A>G, NG_007276.1:g.50433A>C, NM_022487.4:c.1479A>G, NM_022487.4:c.1479A>C, NM_022487.3:c.1479A>G, NM_022487.3:c.1479A>C, NM_022487.2:c.1479A>G, NM_022487.2:c.1479A>C, NM_001033858.3:c.1464A>G, NM_001033858.3:c.1464A>C, NM_001033858.2:c.1464A>G, NM_001033858.2:c.1464A>C, NM_001033858.1:c.1464A>G, NM_001033858.1:c.1464A>C, NM_001033857.3:c.1464A>G, NM_001033857.3:c.1464A>C, NM_001033857.2:c.1464A>G, NM_001033857.2:c.1464A>C, NM_001033857.1:c.1464A>G, NM_001033857.1:c.1464A>C, NM_001033855.3:c.1824A>G, NM_001033855.3:c.1824A>C, NM_001033855.2:c.1824A>G, NM_001033855.2:c.1824A>C, NM_001033855.1:c.1824A>G, NM_001033855.1:c.1824A>C, NM_001289079.2:c.1464A>G, NM_001289079.2:c.1464A>C, NM_001289079.1:c.1464A>G, NM_001289079.1:c.1464A>C, NR_110297.2:n.2263A>G, NR_110297.2:n.2263A>C, NR_110297.1:n.2599A>G, NR_110297.1:n.2599A>C, NM_001289077.2:c.1464A>G, NM_001289077.2:c.1464A>C, NM_001289077.1:c.1464A>G, NM_001289077.1:c.1464A>C, NR_146961.2:n.2004A>G, NR_146961.2:n.2004A>C, NR_146961.1:n.2340A>G, NR_146961.1:n.2340A>C, NM_001289078.2:c.1479A>G, NM_001289078.2:c.1479A>C, NM_001289078.1:c.1479A>G, NM_001289078.1:c.1479A>C, NM_001289076.2:c.1479A>G, NM_001289076.2:c.1479A>C, NM_001289076.1:c.1479A>G, NM_001289076.1:c.1479A>C, NR_146962.1:n.2311A>G, NR_146962.1:n.2311A>C, XM_011519620.4:c.*2657A>G, XM_011519620.4:c.*2657A>C, XM_047425652.1:c.1464A>G, XM_047425652.1:c.1464A>C, XM_047425651.1:c.1479A>G, XM_047425651.1:c.1479A>C, XM_047425649.1:c.1479A>G, XM_047425649.1:c.1479A>C, XM_047425650.1:c.1479A>G, XM_047425650.1:c.1479A>C, XM_047425648.1:c.1479A>G, XM_047425648.1:c.1479A>C, NP_071932.2:p.Arg493Ser, NP_001029030.1:p.Arg488Ser, NP_001029029.1:p.Arg488Ser, NP_001029027.1:p.Arg608Ser, NP_001276008.1:p.Arg488Ser, NP_001276006.1:p.Arg488Ser, NP_001276007.1:p.Arg493Ser, NP_001276005.1:p.Arg493Ser, XP_047281608.1:p.Arg488Ser, XP_047281607.1:p.Arg493Ser, XP_047281605.1:p.Arg493Ser, XP_047281606.1:p.Arg493Ser, XP_047281604.1:p.Arg493Ser

                        12.

                        rs1475039193 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          10:14934705 (GRCh38)
                          10:14976704 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:14934704:G:A
                          Gene:
                          DCLRE1C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.14934705G>A, NC_000010.10:g.14976704G>A, NG_007276.1:g.24391C>T, NM_022487.4:c.190C>T, NM_022487.3:c.190C>T, NM_022487.2:c.190C>T, NM_001033858.3:c.175C>T, NM_001033858.2:c.175C>T, NM_001033858.1:c.175C>T, NM_001033857.3:c.175C>T, NM_001033857.2:c.175C>T, NM_001033857.1:c.175C>T, NM_001033855.3:c.535C>T, NM_001033855.2:c.535C>T, NM_001033855.1:c.535C>T, NM_001289079.2:c.175C>T, NM_001289079.1:c.175C>T, NR_110297.2:n.833C>T, NR_110297.1:n.1169C>T, NM_001289077.2:c.175C>T, NM_001289077.1:c.175C>T, NR_146961.2:n.650C>T, NR_146961.1:n.986C>T, NM_001289078.2:c.190C>T, NM_001289078.1:c.190C>T, NM_001289076.2:c.190C>T, NM_001289076.1:c.190C>T, NR_146962.1:n.957C>T, XM_011519620.4:c.535C>T, XM_011519620.3:c.535C>T, XM_011519620.2:c.535C>T, XM_011519620.1:c.535C>T, XR_930515.3:n.957C>T, XR_930515.2:n.879C>T, XR_930515.1:n.632C>T, XM_011519621.3:c.535C>T, XM_011519621.2:c.535C>T, XM_011519621.1:c.535C>T, NM_001350967.2:c.175C>T, NM_001350967.1:c.175C>T, NM_001350965.2:c.535C>T, NM_001350965.1:c.535C>T, NM_001350966.2:c.190C>T, NM_001350966.1:c.190C>T, XM_047425652.1:c.175C>T, XM_047425651.1:c.190C>T, XM_047425649.1:c.190C>T, XM_047425650.1:c.190C>T, XM_047425648.1:c.190C>T, NR_146960.1:n.957C>T, NP_071932.2:p.Arg64Trp, NP_001029030.1:p.Arg59Trp, NP_001029029.1:p.Arg59Trp, NP_001029027.1:p.Arg179Trp, NP_001276008.1:p.Arg59Trp, NP_001276006.1:p.Arg59Trp, NP_001276007.1:p.Arg64Trp, NP_001276005.1:p.Arg64Trp, XP_011517922.1:p.Arg179Trp, XP_011517923.1:p.Arg179Trp, NP_001337896.1:p.Arg59Trp, NP_001337894.1:p.Arg179Trp, NP_001337895.1:p.Arg64Trp, XP_047281608.1:p.Arg59Trp, XP_047281607.1:p.Arg64Trp, XP_047281605.1:p.Arg64Trp, XP_047281606.1:p.Arg64Trp, XP_047281604.1:p.Arg64Trp

                          13.

                          rs1473667493 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            10:14908991 (GRCh38)
                            10:14950990 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:14908990:A:T
                            Gene:
                            DCLRE1C (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000010.11:g.14908991A>T, NC_000010.10:g.14950990A>T, NG_007276.1:g.50105T>A, NM_022487.4:c.1151T>A, NM_022487.3:c.1151T>A, NM_022487.2:c.1151T>A, NM_001033858.3:c.1136T>A, NM_001033858.2:c.1136T>A, NM_001033858.1:c.1136T>A, NM_001033857.3:c.1136T>A, NM_001033857.2:c.1136T>A, NM_001033857.1:c.1136T>A, NM_001033855.3:c.1496T>A, NM_001033855.2:c.1496T>A, NM_001033855.1:c.1496T>A, NM_001289079.2:c.1136T>A, NM_001289079.1:c.1136T>A, NR_110297.2:n.1935T>A, NR_110297.1:n.2271T>A, NM_001289077.2:c.1136T>A, NM_001289077.1:c.1136T>A, NR_146961.2:n.1676T>A, NR_146961.1:n.2012T>A, NM_001289078.2:c.1151T>A, NM_001289078.1:c.1151T>A, NM_001289076.2:c.1151T>A, NM_001289076.1:c.1151T>A, NR_146962.1:n.1983T>A, XM_011519620.4:c.*2329T>A, NM_001350967.2:c.1136T>A, NM_001350967.1:c.1136T>A, NM_001350965.2:c.1496T>A, NM_001350965.1:c.1496T>A, NM_001350966.2:c.1151T>A, NM_001350966.1:c.1151T>A, XM_047425652.1:c.1136T>A, XM_047425651.1:c.1151T>A, XM_047425649.1:c.1151T>A, XM_047425650.1:c.1151T>A, XM_047425648.1:c.1151T>A, NR_146960.1:n.1863T>A, NP_071932.2:p.Ile384Asn, NP_001029030.1:p.Ile379Asn, NP_001029029.1:p.Ile379Asn, NP_001029027.1:p.Ile499Asn, NP_001276008.1:p.Ile379Asn, NP_001276006.1:p.Ile379Asn, NP_001276007.1:p.Ile384Asn, NP_001276005.1:p.Ile384Asn, NP_001337896.1:p.Ile379Asn, NP_001337894.1:p.Ile499Asn, NP_001337895.1:p.Ile384Asn, XP_047281608.1:p.Ile379Asn, XP_047281607.1:p.Ile384Asn, XP_047281605.1:p.Ile384Asn, XP_047281606.1:p.Ile384Asn, XP_047281604.1:p.Ile384Asn

                            14.

                            rs1473432471 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,T [Show Flanks]
                              Chromosome:
                              10:14909192 (GRCh38)
                              10:14951191 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:14909191:G:A,NC_000010.11:14909191:G:T
                              Gene:
                              DCLRE1C (Varview)
                              Functional Consequence:
                              coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000010.11:g.14909192G>A, NC_000010.11:g.14909192G>T, NC_000010.10:g.14951191G>A, NC_000010.10:g.14951191G>T, NG_007276.1:g.49904C>T, NG_007276.1:g.49904C>A, NM_022487.4:c.950C>T, NM_022487.4:c.950C>A, NM_022487.3:c.950C>T, NM_022487.3:c.950C>A, NM_022487.2:c.950C>T, NM_022487.2:c.950C>A, NM_001033858.3:c.935C>T, NM_001033858.3:c.935C>A, NM_001033858.2:c.935C>T, NM_001033858.2:c.935C>A, NM_001033858.1:c.935C>T, NM_001033858.1:c.935C>A, NM_001033857.3:c.935C>T, NM_001033857.3:c.935C>A, NM_001033857.2:c.935C>T, NM_001033857.2:c.935C>A, NM_001033857.1:c.935C>T, NM_001033857.1:c.935C>A, NM_001033855.3:c.1295C>T, NM_001033855.3:c.1295C>A, NM_001033855.2:c.1295C>T, NM_001033855.2:c.1295C>A, NM_001033855.1:c.1295C>T, NM_001033855.1:c.1295C>A, NM_001289079.2:c.935C>T, NM_001289079.2:c.935C>A, NM_001289079.1:c.935C>T, NM_001289079.1:c.935C>A, NR_110297.2:n.1734C>T, NR_110297.2:n.1734C>A, NR_110297.1:n.2070C>T, NR_110297.1:n.2070C>A, NM_001289077.2:c.935C>T, NM_001289077.2:c.935C>A, NM_001289077.1:c.935C>T, NM_001289077.1:c.935C>A, NR_146961.2:n.1475C>T, NR_146961.2:n.1475C>A, NR_146961.1:n.1811C>T, NR_146961.1:n.1811C>A, NM_001289078.2:c.950C>T, NM_001289078.2:c.950C>A, NM_001289078.1:c.950C>T, NM_001289078.1:c.950C>A, NM_001289076.2:c.950C>T, NM_001289076.2:c.950C>A, NM_001289076.1:c.950C>T, NM_001289076.1:c.950C>A, NR_146962.1:n.1782C>T, NR_146962.1:n.1782C>A, XM_011519620.4:c.*2128C>T, XM_011519620.4:c.*2128C>A, NM_001350967.2:c.935C>T, NM_001350967.2:c.935C>A, NM_001350967.1:c.935C>T, NM_001350967.1:c.935C>A, NM_001350965.2:c.1295C>T, NM_001350965.2:c.1295C>A, NM_001350965.1:c.1295C>T, NM_001350965.1:c.1295C>A, NM_001350966.2:c.950C>T, NM_001350966.2:c.950C>A, NM_001350966.1:c.950C>T, NM_001350966.1:c.950C>A, XM_047425652.1:c.935C>T, XM_047425652.1:c.935C>A, XM_047425651.1:c.950C>T, XM_047425651.1:c.950C>A, XM_047425649.1:c.950C>T, XM_047425649.1:c.950C>A, XM_047425650.1:c.950C>T, XM_047425650.1:c.950C>A, XM_047425648.1:c.950C>T, XM_047425648.1:c.950C>A, NR_146960.1:n.1662C>T, NR_146960.1:n.1662C>A, NP_071932.2:p.Thr317Ile, NP_071932.2:p.Thr317Asn, NP_001029030.1:p.Thr312Ile, NP_001029030.1:p.Thr312Asn, NP_001029029.1:p.Thr312Ile, NP_001029029.1:p.Thr312Asn, NP_001029027.1:p.Thr432Ile, NP_001029027.1:p.Thr432Asn, NP_001276008.1:p.Thr312Ile, NP_001276008.1:p.Thr312Asn, NP_001276006.1:p.Thr312Ile, NP_001276006.1:p.Thr312Asn, NP_001276007.1:p.Thr317Ile, NP_001276007.1:p.Thr317Asn, NP_001276005.1:p.Thr317Ile, NP_001276005.1:p.Thr317Asn, NP_001337896.1:p.Thr312Ile, NP_001337896.1:p.Thr312Asn, NP_001337894.1:p.Thr432Ile, NP_001337894.1:p.Thr432Asn, NP_001337895.1:p.Thr317Ile, NP_001337895.1:p.Thr317Asn, XP_047281608.1:p.Thr312Ile, XP_047281608.1:p.Thr312Asn, XP_047281607.1:p.Thr317Ile, XP_047281607.1:p.Thr317Asn, XP_047281605.1:p.Thr317Ile, XP_047281605.1:p.Thr317Asn, XP_047281606.1:p.Thr317Ile, XP_047281606.1:p.Thr317Asn, XP_047281604.1:p.Thr317Ile, XP_047281604.1:p.Thr317Asn

                              15.

                              rs1470101838 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                10:14926881 (GRCh38)
                                10:14968880 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:14926880:A:G,NC_000010.11:14926880:A:T
                                Gene:
                                DCLRE1C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000031/1 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000010.11:g.14926881A>G, NC_000010.11:g.14926881A>T, NC_000010.10:g.14968880A>G, NC_000010.10:g.14968880A>T, NG_007276.1:g.32215T>C, NG_007276.1:g.32215T>A, NM_022487.4:c.589T>C, NM_022487.4:c.589T>A, NM_022487.3:c.589T>C, NM_022487.3:c.589T>A, NM_022487.2:c.589T>C, NM_022487.2:c.589T>A, NM_001033858.3:c.574T>C, NM_001033858.3:c.574T>A, NM_001033858.2:c.574T>C, NM_001033858.2:c.574T>A, NM_001033858.1:c.574T>C, NM_001033858.1:c.574T>A, NM_001033857.3:c.574T>C, NM_001033857.3:c.574T>A, NM_001033857.2:c.574T>C, NM_001033857.2:c.574T>A, NM_001033857.1:c.574T>C, NM_001033857.1:c.574T>A, NM_001033855.3:c.934T>C, NM_001033855.3:c.934T>A, NM_001033855.2:c.934T>C, NM_001033855.2:c.934T>A, NM_001033855.1:c.934T>C, NM_001033855.1:c.934T>A, NM_001289079.2:c.574T>C, NM_001289079.2:c.574T>A, NM_001289079.1:c.574T>C, NM_001289079.1:c.574T>A, NR_110297.2:n.1232T>C, NR_110297.2:n.1232T>A, NR_110297.1:n.1568T>C, NR_110297.1:n.1568T>A, NM_001289077.2:c.574T>C, NM_001289077.2:c.574T>A, NM_001289077.1:c.574T>C, NM_001289077.1:c.574T>A, NR_146961.2:n.1049T>C, NR_146961.2:n.1049T>A, NR_146961.1:n.1385T>C, NR_146961.1:n.1385T>A, NM_001289078.2:c.589T>C, NM_001289078.2:c.589T>A, NM_001289078.1:c.589T>C, NM_001289078.1:c.589T>A, NM_001289076.2:c.589T>C, NM_001289076.2:c.589T>A, NM_001289076.1:c.589T>C, NM_001289076.1:c.589T>A, NR_146962.1:n.1356T>C, NR_146962.1:n.1356T>A, XM_011519620.4:c.934T>C, XM_011519620.4:c.934T>A, XM_011519620.3:c.934T>C, XM_011519620.3:c.934T>A, XM_011519620.2:c.934T>C, XM_011519620.2:c.934T>A, XM_011519620.1:c.934T>C, XM_011519620.1:c.934T>A, NM_001350967.2:c.574T>C, NM_001350967.2:c.574T>A, NM_001350967.1:c.574T>C, NM_001350967.1:c.574T>A, NM_001350965.2:c.934T>C, NM_001350965.2:c.934T>A, NM_001350965.1:c.934T>C, NM_001350965.1:c.934T>A, NM_001350966.2:c.589T>C, NM_001350966.2:c.589T>A, NM_001350966.1:c.589T>C, NM_001350966.1:c.589T>A, XM_047425652.1:c.574T>C, XM_047425652.1:c.574T>A, XM_047425651.1:c.589T>C, XM_047425651.1:c.589T>A, XM_047425649.1:c.589T>C, XM_047425649.1:c.589T>A, XM_047425650.1:c.589T>C, XM_047425650.1:c.589T>A, XM_047425648.1:c.589T>C, XM_047425648.1:c.589T>A, NP_071932.2:p.Tyr197His, NP_071932.2:p.Tyr197Asn, NP_001029030.1:p.Tyr192His, NP_001029030.1:p.Tyr192Asn, NP_001029029.1:p.Tyr192His, NP_001029029.1:p.Tyr192Asn, NP_001029027.1:p.Tyr312His, NP_001029027.1:p.Tyr312Asn, NP_001276008.1:p.Tyr192His, NP_001276008.1:p.Tyr192Asn, NP_001276006.1:p.Tyr192His, NP_001276006.1:p.Tyr192Asn, NP_001276007.1:p.Tyr197His, NP_001276007.1:p.Tyr197Asn, NP_001276005.1:p.Tyr197His, NP_001276005.1:p.Tyr197Asn, XP_011517922.1:p.Tyr312His, XP_011517922.1:p.Tyr312Asn, NP_001337896.1:p.Tyr192His, NP_001337896.1:p.Tyr192Asn, NP_001337894.1:p.Tyr312His, NP_001337894.1:p.Tyr312Asn, NP_001337895.1:p.Tyr197His, NP_001337895.1:p.Tyr197Asn, XP_047281608.1:p.Tyr192His, XP_047281608.1:p.Tyr192Asn, XP_047281607.1:p.Tyr197His, XP_047281607.1:p.Tyr197Asn, XP_047281605.1:p.Tyr197His, XP_047281605.1:p.Tyr197Asn, XP_047281606.1:p.Tyr197His, XP_047281606.1:p.Tyr197Asn, XP_047281604.1:p.Tyr197His, XP_047281604.1:p.Tyr197Asn

                                16.

                                rs1468919857 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  10:14934494 (GRCh38)
                                  10:14976493 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:14934493:C:A,NC_000010.11:14934493:C:T
                                  Gene:
                                  DCLRE1C (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000010.11:g.14934494C>A, NC_000010.11:g.14934494C>T, NC_000010.10:g.14976493C>A, NC_000010.10:g.14976493C>T, NG_007276.1:g.24602G>T, NG_007276.1:g.24602G>A, NM_022487.4:c.219G>T, NM_022487.4:c.219G>A, NM_022487.3:c.219G>T, NM_022487.3:c.219G>A, NM_022487.2:c.219G>T, NM_022487.2:c.219G>A, NM_001033858.3:c.204G>T, NM_001033858.3:c.204G>A, NM_001033858.2:c.204G>T, NM_001033858.2:c.204G>A, NM_001033858.1:c.204G>T, NM_001033858.1:c.204G>A, NM_001033857.3:c.204G>T, NM_001033857.3:c.204G>A, NM_001033857.2:c.204G>T, NM_001033857.2:c.204G>A, NM_001033857.1:c.204G>T, NM_001033857.1:c.204G>A, NM_001033855.3:c.564G>T, NM_001033855.3:c.564G>A, NM_001033855.2:c.564G>T, NM_001033855.2:c.564G>A, NM_001033855.1:c.564G>T, NM_001033855.1:c.564G>A, NM_001289079.2:c.204G>T, NM_001289079.2:c.204G>A, NM_001289079.1:c.204G>T, NM_001289079.1:c.204G>A, NR_110297.2:n.862G>T, NR_110297.2:n.862G>A, NR_110297.1:n.1198G>T, NR_110297.1:n.1198G>A, NM_001289077.2:c.204G>T, NM_001289077.2:c.204G>A, NM_001289077.1:c.204G>T, NM_001289077.1:c.204G>A, NR_146961.2:n.679G>T, NR_146961.2:n.679G>A, NR_146961.1:n.1015G>T, NR_146961.1:n.1015G>A, NM_001289078.2:c.219G>T, NM_001289078.2:c.219G>A, NM_001289078.1:c.219G>T, NM_001289078.1:c.219G>A, NM_001289076.2:c.219G>T, NM_001289076.2:c.219G>A, NM_001289076.1:c.219G>T, NM_001289076.1:c.219G>A, NR_146962.1:n.986G>T, NR_146962.1:n.986G>A, XM_011519620.4:c.564G>T, XM_011519620.4:c.564G>A, XM_011519620.3:c.564G>T, XM_011519620.3:c.564G>A, XM_011519620.2:c.564G>T, XM_011519620.2:c.564G>A, XM_011519620.1:c.564G>T, XM_011519620.1:c.564G>A, XR_930515.3:n.986G>T, XR_930515.3:n.986G>A, XR_930515.2:n.908G>T, XR_930515.2:n.908G>A, XR_930515.1:n.661G>T, XR_930515.1:n.661G>A, XM_011519621.3:c.564G>T, XM_011519621.3:c.564G>A, XM_011519621.2:c.564G>T, XM_011519621.2:c.564G>A, XM_011519621.1:c.564G>T, XM_011519621.1:c.564G>A, NM_001350967.2:c.204G>T, NM_001350967.2:c.204G>A, NM_001350967.1:c.204G>T, NM_001350967.1:c.204G>A, NM_001350965.2:c.564G>T, NM_001350965.2:c.564G>A, NM_001350965.1:c.564G>T, NM_001350965.1:c.564G>A, NM_001350966.2:c.219G>T, NM_001350966.2:c.219G>A, NM_001350966.1:c.219G>T, NM_001350966.1:c.219G>A, XM_047425652.1:c.204G>T, XM_047425652.1:c.204G>A, XM_047425651.1:c.219G>T, XM_047425651.1:c.219G>A, XM_047425649.1:c.219G>T, XM_047425649.1:c.219G>A, XM_047425650.1:c.219G>T, XM_047425650.1:c.219G>A, XM_047425648.1:c.219G>T, XM_047425648.1:c.219G>A, NR_146960.1:n.986G>T, NR_146960.1:n.986G>A, NP_071932.2:p.Glu73Asp, NP_001029030.1:p.Glu68Asp, NP_001029029.1:p.Glu68Asp, NP_001029027.1:p.Glu188Asp, NP_001276008.1:p.Glu68Asp, NP_001276006.1:p.Glu68Asp, NP_001276007.1:p.Glu73Asp, NP_001276005.1:p.Glu73Asp, XP_011517922.1:p.Glu188Asp, XP_011517923.1:p.Glu188Asp, NP_001337896.1:p.Glu68Asp, NP_001337894.1:p.Glu188Asp, NP_001337895.1:p.Glu73Asp, XP_047281608.1:p.Glu68Asp, XP_047281607.1:p.Glu73Asp, XP_047281605.1:p.Glu73Asp, XP_047281606.1:p.Glu73Asp, XP_047281604.1:p.Glu73Asp

                                  17.

                                  rs1466407883 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    10:14909323 (GRCh38)
                                    10:14951322 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:14909322:T:G
                                    Gene:
                                    DCLRE1C (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000111/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.14909323T>G, NC_000010.10:g.14951322T>G, NG_007276.1:g.49773A>C, NM_022487.4:c.819A>C, NM_022487.3:c.819A>C, NM_022487.2:c.819A>C, NM_001033858.3:c.804A>C, NM_001033858.2:c.804A>C, NM_001033858.1:c.804A>C, NM_001033857.3:c.804A>C, NM_001033857.2:c.804A>C, NM_001033857.1:c.804A>C, NM_001033855.3:c.1164A>C, NM_001033855.2:c.1164A>C, NM_001033855.1:c.1164A>C, NM_001289079.2:c.804A>C, NM_001289079.1:c.804A>C, NR_110297.2:n.1603A>C, NR_110297.1:n.1939A>C, NM_001289077.2:c.804A>C, NM_001289077.1:c.804A>C, NR_146961.2:n.1344A>C, NR_146961.1:n.1680A>C, NM_001289078.2:c.819A>C, NM_001289078.1:c.819A>C, NM_001289076.2:c.819A>C, NM_001289076.1:c.819A>C, NR_146962.1:n.1651A>C, XM_011519620.4:c.*1997A>C, NM_001350967.2:c.804A>C, NM_001350967.1:c.804A>C, NM_001350965.2:c.1164A>C, NM_001350965.1:c.1164A>C, NM_001350966.2:c.819A>C, NM_001350966.1:c.819A>C, XM_047425652.1:c.804A>C, XM_047425651.1:c.819A>C, XM_047425649.1:c.819A>C, XM_047425650.1:c.819A>C, XM_047425648.1:c.819A>C, NR_146960.1:n.1531A>C, NP_071932.2:p.Glu273Asp, NP_001029030.1:p.Glu268Asp, NP_001029029.1:p.Glu268Asp, NP_001029027.1:p.Glu388Asp, NP_001276008.1:p.Glu268Asp, NP_001276006.1:p.Glu268Asp, NP_001276007.1:p.Glu273Asp, NP_001276005.1:p.Glu273Asp, NP_001337896.1:p.Glu268Asp, NP_001337894.1:p.Glu388Asp, NP_001337895.1:p.Glu273Asp, XP_047281608.1:p.Glu268Asp, XP_047281607.1:p.Glu273Asp, XP_047281605.1:p.Glu273Asp, XP_047281606.1:p.Glu273Asp, XP_047281604.1:p.Glu273Asp

                                    18.

                                    rs1461484937 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      10:14908969 (GRCh38)
                                      10:14950968 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:14908968:G:A
                                      Gene:
                                      DCLRE1C (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      HGVS:
                                      NC_000010.11:g.14908969G>A, NC_000010.10:g.14950968G>A, NG_007276.1:g.50127C>T, NM_022487.4:c.1173C>T, NM_022487.3:c.1173C>T, NM_022487.2:c.1173C>T, NM_001033858.3:c.1158C>T, NM_001033858.2:c.1158C>T, NM_001033858.1:c.1158C>T, NM_001033857.3:c.1158C>T, NM_001033857.2:c.1158C>T, NM_001033857.1:c.1158C>T, NM_001033855.3:c.1518C>T, NM_001033855.2:c.1518C>T, NM_001033855.1:c.1518C>T, NM_001289079.2:c.1158C>T, NM_001289079.1:c.1158C>T, NR_110297.2:n.1957C>T, NR_110297.1:n.2293C>T, NM_001289077.2:c.1158C>T, NM_001289077.1:c.1158C>T, NR_146961.2:n.1698C>T, NR_146961.1:n.2034C>T, NM_001289078.2:c.1173C>T, NM_001289078.1:c.1173C>T, NM_001289076.2:c.1173C>T, NM_001289076.1:c.1173C>T, NR_146962.1:n.2005C>T, XM_011519620.4:c.*2351C>T, NM_001350967.2:c.1158C>T, NM_001350967.1:c.1158C>T, NM_001350965.2:c.1518C>T, NM_001350965.1:c.1518C>T, NM_001350966.2:c.1173C>T, NM_001350966.1:c.1173C>T, XM_047425652.1:c.1158C>T, XM_047425651.1:c.1173C>T, XM_047425649.1:c.1173C>T, XM_047425650.1:c.1173C>T, XM_047425648.1:c.1173C>T, NR_146960.1:n.1885C>T

                                      19.

                                      rs1460966068 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        10:14928091 (GRCh38)
                                        10:14970090 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:14928090:G:A
                                        Gene:
                                        DCLRE1C (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000010.11:g.14928091G>A, NC_000010.10:g.14970090G>A, NG_007276.1:g.31005C>T, NM_022487.4:c.497C>T, NM_022487.3:c.497C>T, NM_022487.2:c.497C>T, NM_001033858.3:c.482C>T, NM_001033858.2:c.482C>T, NM_001033858.1:c.482C>T, NM_001033857.3:c.482C>T, NM_001033857.2:c.482C>T, NM_001033857.1:c.482C>T, NM_001033855.3:c.842C>T, NM_001033855.2:c.842C>T, NM_001033855.1:c.842C>T, NM_001289079.2:c.482C>T, NM_001289079.1:c.482C>T, NR_110297.2:n.1140C>T, NR_110297.1:n.1476C>T, NM_001289077.2:c.482C>T, NM_001289077.1:c.482C>T, NR_146961.2:n.957C>T, NR_146961.1:n.1293C>T, NM_001289078.2:c.497C>T, NM_001289078.1:c.497C>T, NM_001289076.2:c.497C>T, NM_001289076.1:c.497C>T, NR_146962.1:n.1264C>T, XM_011519620.4:c.842C>T, XM_011519620.3:c.842C>T, XM_011519620.2:c.842C>T, XM_011519620.1:c.842C>T, XR_930515.3:n.1264C>T, XR_930515.2:n.1186C>T, XR_930515.1:n.939C>T, XM_011519621.3:c.842C>T, XM_011519621.2:c.842C>T, XM_011519621.1:c.842C>T, NM_001350967.2:c.482C>T, NM_001350967.1:c.482C>T, NM_001350965.2:c.842C>T, NM_001350965.1:c.842C>T, NM_001350966.2:c.497C>T, NM_001350966.1:c.497C>T, XM_047425652.1:c.482C>T, XM_047425651.1:c.497C>T, XM_047425649.1:c.497C>T, XM_047425650.1:c.497C>T, XM_047425648.1:c.497C>T, NR_146960.1:n.1264C>T, NP_071932.2:p.Pro166Leu, NP_001029030.1:p.Pro161Leu, NP_001029029.1:p.Pro161Leu, NP_001029027.1:p.Pro281Leu, NP_001276008.1:p.Pro161Leu, NP_001276006.1:p.Pro161Leu, NP_001276007.1:p.Pro166Leu, NP_001276005.1:p.Pro166Leu, XP_011517922.1:p.Pro281Leu, XP_011517923.1:p.Pro281Leu, NP_001337896.1:p.Pro161Leu, NP_001337894.1:p.Pro281Leu, NP_001337895.1:p.Pro166Leu, XP_047281608.1:p.Pro161Leu, XP_047281607.1:p.Pro166Leu, XP_047281605.1:p.Pro166Leu, XP_047281606.1:p.Pro166Leu, XP_047281604.1:p.Pro166Leu

                                        20.

                                        rs1459691889 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          10:14908834 (GRCh38)
                                          10:14950833 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:14908833:C:A
                                          Gene:
                                          DCLRE1C (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:
                                          NC_000010.11:g.14908834C>A, NC_000010.10:g.14950833C>A, NG_007276.1:g.50262G>T, NM_022487.4:c.1308G>T, NM_022487.3:c.1308G>T, NM_022487.2:c.1308G>T, NM_001033858.3:c.1293G>T, NM_001033858.2:c.1293G>T, NM_001033858.1:c.1293G>T, NM_001033857.3:c.1293G>T, NM_001033857.2:c.1293G>T, NM_001033857.1:c.1293G>T, NM_001033855.3:c.1653G>T, NM_001033855.2:c.1653G>T, NM_001033855.1:c.1653G>T, NM_001289079.2:c.1293G>T, NM_001289079.1:c.1293G>T, NR_110297.2:n.2092G>T, NR_110297.1:n.2428G>T, NM_001289077.2:c.1293G>T, NM_001289077.1:c.1293G>T, NR_146961.2:n.1833G>T, NR_146961.1:n.2169G>T, NM_001289078.2:c.1308G>T, NM_001289078.1:c.1308G>T, NM_001289076.2:c.1308G>T, NM_001289076.1:c.1308G>T, NR_146962.1:n.2140G>T, XM_011519620.4:c.*2486G>T, NM_001350967.2:c.1293G>T, NM_001350967.1:c.1293G>T, NM_001350965.2:c.1653G>T, NM_001350965.1:c.1653G>T, NM_001350966.2:c.1308G>T, NM_001350966.1:c.1308G>T, XM_047425652.1:c.1293G>T, XM_047425651.1:c.1308G>T, XM_047425649.1:c.1308G>T, XM_047425650.1:c.1308G>T, XM_047425648.1:c.1308G>T, NR_146960.1:n.2020G>T, NP_071932.2:p.Trp436Cys, NP_001029030.1:p.Trp431Cys, NP_001029029.1:p.Trp431Cys, NP_001029027.1:p.Trp551Cys, NP_001276008.1:p.Trp431Cys, NP_001276006.1:p.Trp431Cys, NP_001276007.1:p.Trp436Cys, NP_001276005.1:p.Trp436Cys, NP_001337896.1:p.Trp431Cys, NP_001337894.1:p.Trp551Cys, NP_001337895.1:p.Trp436Cys, XP_047281608.1:p.Trp431Cys, XP_047281607.1:p.Trp436Cys, XP_047281605.1:p.Trp436Cys, XP_047281606.1:p.Trp436Cys, XP_047281604.1:p.Trp436Cys

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