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Items: 1 to 20 of 583

1.

rs1490736472 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    17:18016176 (GRCh38)
    17:17919490 (GRCh37)
    Canonical SPDI:
    NC_000017.11:18016175:G:A,NC_000017.11:18016175:G:T
    Gene:
    DRC3 (Varview), ATPAF2 (Varview)
    Functional Consequence:
    coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000017.11:g.18016176G>A, NC_000017.11:g.18016176G>T, NC_000017.10:g.17919490G>A, NC_000017.10:g.17919490G>T, NG_012824.1:g.27991C>T, NG_012824.1:g.27991C>A, NM_031294.4:c.1439G>A, NM_031294.4:c.1439G>T, NM_031294.3:c.1439G>A, NM_031294.3:c.1439G>T, XM_011524020.3:c.1556G>A, XM_011524020.3:c.1556G>T, XM_011524020.2:c.1556G>A, XM_011524020.2:c.1556G>T, XM_011524020.1:c.1556G>A, XM_011524020.1:c.1556G>T, XM_011524018.3:c.1556G>A, XM_011524018.3:c.1556G>T, XM_011524018.2:c.1556G>A, XM_011524018.2:c.1556G>T, XM_011524018.1:c.1556G>A, XM_011524018.1:c.1556G>T, XM_011524021.3:c.1499G>A, XM_011524021.3:c.1499G>T, XM_011524021.2:c.1499G>A, XM_011524021.2:c.1499G>T, XM_011524021.1:c.1499G>A, XM_011524021.1:c.1499G>T, XM_011524026.3:c.785G>A, XM_011524026.3:c.785G>T, XM_011524026.2:c.785G>A, XM_011524026.2:c.785G>T, XM_011524026.1:c.785G>A, XM_011524026.1:c.785G>T, XM_024450964.2:c.1496G>A, XM_024450964.2:c.1496G>T, XM_024450964.1:c.1496G>A, XM_024450964.1:c.1496G>T, XM_024450965.2:c.1496G>A, XM_024450965.2:c.1496G>T, XM_024450965.1:c.1496G>A, XM_024450965.1:c.1496G>T, XM_024450963.2:c.1496G>A, XM_024450963.2:c.1496G>T, XM_024450963.1:c.1496G>A, XM_024450963.1:c.1496G>T, XM_011524065.2:c.*25C>T, XM_011524065.2:c.*25C>A, XM_011524065.1:c.*25C>T, XM_011524065.1:c.*25C>A, NM_001130090.1:c.1439G>A, NM_001130090.1:c.1439G>T, XM_017025303.1:c.*25C>T, XM_017025303.1:c.*25C>A, NP_112584.3:p.Cys480Tyr, NP_112584.3:p.Cys480Phe, XP_011522322.1:p.Cys519Tyr, XP_011522322.1:p.Cys519Phe, XP_011522320.1:p.Cys519Tyr, XP_011522320.1:p.Cys519Phe, XP_011522323.1:p.Cys500Tyr, XP_011522323.1:p.Cys500Phe, XP_011522328.1:p.Cys262Tyr, XP_011522328.1:p.Cys262Phe, XP_024306732.1:p.Cys499Tyr, XP_024306732.1:p.Cys499Phe, XP_024306733.1:p.Cys499Tyr, XP_024306733.1:p.Cys499Phe, XP_024306731.1:p.Cys499Tyr, XP_024306731.1:p.Cys499Phe, NP_001123562.1:p.Cys480Tyr, NP_001123562.1:p.Cys480Phe

    2.

    rs1490287929 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      17:18007026 (GRCh38)
      17:17910340 (GRCh37)
      Canonical SPDI:
      NC_000017.11:18007025:T:C
      Gene:
      DRC3 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000011/3 (TOPMED)
      C=0.000021/3 (GnomAD)
      HGVS:
      NC_000017.11:g.18007026T>C, NC_000017.10:g.17910340T>C, NM_031294.4:c.1205T>C, NM_031294.3:c.1205T>C, XM_011524020.3:c.1322T>C, XM_011524020.2:c.1322T>C, XM_011524020.1:c.1322T>C, XM_011524022.3:c.1322T>C, XM_011524022.2:c.1322T>C, XM_011524022.1:c.1322T>C, XM_011524018.3:c.1322T>C, XM_011524018.2:c.1322T>C, XM_011524018.1:c.1322T>C, XM_011524021.3:c.1265T>C, XM_011524021.2:c.1265T>C, XM_011524021.1:c.1265T>C, XM_011524023.3:c.1322T>C, XM_011524023.2:c.1322T>C, XM_011524023.1:c.1322T>C, XM_011524026.3:c.551T>C, XM_011524026.2:c.551T>C, XM_011524026.1:c.551T>C, XM_024450964.2:c.1262T>C, XM_024450964.1:c.1262T>C, XM_024450965.2:c.1262T>C, XM_024450965.1:c.1262T>C, NM_001130091.2:c.1205T>C, NM_001130091.1:c.1205T>C, XM_024450963.2:c.1262T>C, XM_024450963.1:c.1262T>C, NM_001130092.2:c.1205T>C, NM_001130092.1:c.1205T>C, NM_001130090.1:c.1205T>C, NP_112584.3:p.Met402Thr, XP_011522322.1:p.Met441Thr, XP_011522324.1:p.Met441Thr, XP_011522320.1:p.Met441Thr, XP_011522323.1:p.Met422Thr, XP_011522325.1:p.Met441Thr, XP_011522328.1:p.Met184Thr, XP_024306732.1:p.Met421Thr, XP_024306733.1:p.Met421Thr, NP_001123563.1:p.Met402Thr, XP_024306731.1:p.Met421Thr, NP_001123564.1:p.Met402Thr, NP_001123562.1:p.Met402Thr

      3.

      rs1488268255 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        17:17977668 (GRCh38)
        17:17880982 (GRCh37)
        Canonical SPDI:
        NC_000017.11:17977667:G:A
        Gene:
        DRC3 (Varview), LOC107984989 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.17977668G>A, NC_000017.10:g.17880982G>A, NM_031294.4:c.70G>A, NM_031294.3:c.70G>A, XM_011524020.3:c.70G>A, XM_011524020.2:c.70G>A, XM_011524020.1:c.70G>A, XM_011524022.3:c.70G>A, XM_011524022.2:c.70G>A, XM_011524022.1:c.70G>A, XM_011524018.3:c.70G>A, XM_011524018.2:c.70G>A, XM_011524018.1:c.70G>A, XM_011524021.3:c.70G>A, XM_011524021.2:c.70G>A, XM_011524021.1:c.70G>A, XM_011524023.3:c.70G>A, XM_011524023.2:c.70G>A, XM_011524023.1:c.70G>A, XR_934111.3:n.360G>A, XR_934111.2:n.407G>A, XR_934111.1:n.393G>A, XM_024450964.2:c.70G>A, XM_024450964.1:c.70G>A, XM_024450965.2:c.70G>A, XM_024450965.1:c.70G>A, NM_001130091.2:c.70G>A, NM_001130091.1:c.70G>A, XM_024450963.2:c.70G>A, XM_024450963.1:c.70G>A, NM_001130092.2:c.70G>A, NM_001130092.1:c.70G>A, XR_001752656.2:n.360G>A, XR_001752656.1:n.407G>A, XR_001752801.2:n.749C>T, XR_001752801.1:n.1670C>T, NM_001130090.1:c.70G>A, XR_007065485.1:n.360G>A, XM_047436875.1:c.70G>A, NP_112584.3:p.Asp24Asn, XP_011522322.1:p.Asp24Asn, XP_011522324.1:p.Asp24Asn, XP_011522320.1:p.Asp24Asn, XP_011522323.1:p.Asp24Asn, XP_011522325.1:p.Asp24Asn, XP_024306732.1:p.Asp24Asn, XP_024306733.1:p.Asp24Asn, NP_001123563.1:p.Asp24Asn, XP_024306731.1:p.Asp24Asn, NP_001123564.1:p.Asp24Asn, NP_001123562.1:p.Asp24Asn, XP_047292831.1:p.Asp24Asn

        4.

        rs1486176159 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>G [Show Flanks]
          Chromosome:
          17:17992783 (GRCh38)
          17:17896097 (GRCh37)
          Canonical SPDI:
          NC_000017.11:17992782:T:G
          Gene:
          DRC3 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.17992783T>G, NC_000017.10:g.17896097T>G, NM_031294.4:c.463T>G, NM_031294.3:c.463T>G, XM_011524020.3:c.523T>G, XM_011524020.2:c.523T>G, XM_011524020.1:c.523T>G, XM_011524022.3:c.523T>G, XM_011524022.2:c.523T>G, XM_011524022.1:c.523T>G, XM_011524018.3:c.523T>G, XM_011524018.2:c.523T>G, XM_011524018.1:c.523T>G, XM_011524021.3:c.523T>G, XM_011524021.2:c.523T>G, XM_011524021.1:c.523T>G, XM_011524023.3:c.523T>G, XM_011524023.2:c.523T>G, XM_011524023.1:c.523T>G, XR_934111.3:n.813T>G, XR_934111.2:n.860T>G, XR_934111.1:n.846T>G, XM_024450964.2:c.463T>G, XM_024450964.1:c.463T>G, XM_024450965.2:c.463T>G, XM_024450965.1:c.463T>G, NM_001130091.2:c.463T>G, NM_001130091.1:c.463T>G, XM_024450963.2:c.463T>G, XM_024450963.1:c.463T>G, NM_001130092.2:c.463T>G, NM_001130092.1:c.463T>G, XR_001752656.2:n.813T>G, XR_001752656.1:n.860T>G, NM_001130090.1:c.463T>G, XR_007065485.1:n.813T>G, XM_047436875.1:c.523T>G, NP_112584.3:p.Phe155Val, XP_011522322.1:p.Phe175Val, XP_011522324.1:p.Phe175Val, XP_011522320.1:p.Phe175Val, XP_011522323.1:p.Phe175Val, XP_011522325.1:p.Phe175Val, XP_024306732.1:p.Phe155Val, XP_024306733.1:p.Phe155Val, NP_001123563.1:p.Phe155Val, XP_024306731.1:p.Phe155Val, NP_001123564.1:p.Phe155Val, NP_001123562.1:p.Phe155Val, XP_047292831.1:p.Phe175Val

          5.

          rs1485101916 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            17:17997462 (GRCh38)
            17:17900776 (GRCh37)
            Canonical SPDI:
            NC_000017.11:17997461:A:G
            Gene:
            DRC3 (Varview)
            Functional Consequence:
            coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (GnomAD_exomes)
            G=0.000014/2 (GnomAD)
            G=0.000015/4 (TOPMED)
            HGVS:
            NC_000017.11:g.17997462A>G, NC_000017.10:g.17900776A>G, NM_031294.4:c.827A>G, NM_031294.3:c.827A>G, XM_011524020.3:c.944A>G, XM_011524020.2:c.944A>G, XM_011524020.1:c.944A>G, XM_011524022.3:c.944A>G, XM_011524022.2:c.944A>G, XM_011524022.1:c.944A>G, XM_011524018.3:c.944A>G, XM_011524018.2:c.944A>G, XM_011524018.1:c.944A>G, XM_011524021.3:c.887A>G, XM_011524021.2:c.887A>G, XM_011524021.1:c.887A>G, XM_011524023.3:c.944A>G, XM_011524023.2:c.944A>G, XM_011524023.1:c.944A>G, XM_011524026.3:c.173A>G, XM_011524026.2:c.173A>G, XM_011524026.1:c.173A>G, XM_024450964.2:c.884A>G, XM_024450964.1:c.884A>G, XM_024450965.2:c.884A>G, XM_024450965.1:c.884A>G, NM_001130091.2:c.827A>G, NM_001130091.1:c.827A>G, XM_024450963.2:c.884A>G, XM_024450963.1:c.884A>G, NM_001130092.2:c.827A>G, NM_001130092.1:c.827A>G, NM_001130090.1:c.827A>G, XR_007065485.1:n.1379A>G, NP_112584.3:p.Tyr276Cys, XP_011522322.1:p.Tyr315Cys, XP_011522324.1:p.Tyr315Cys, XP_011522320.1:p.Tyr315Cys, XP_011522323.1:p.Tyr296Cys, XP_011522325.1:p.Tyr315Cys, XP_011522328.1:p.Tyr58Cys, XP_024306732.1:p.Tyr295Cys, XP_024306733.1:p.Tyr295Cys, NP_001123563.1:p.Tyr276Cys, XP_024306731.1:p.Tyr295Cys, NP_001123564.1:p.Tyr276Cys, NP_001123562.1:p.Tyr276Cys

            6.

            rs1484375056 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:18004453 (GRCh38)
              17:17907767 (GRCh37)
              Canonical SPDI:
              NC_000017.11:18004452:G:A
              Gene:
              DRC3 (Varview)
              Functional Consequence:
              coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
              Validated:
              by frequency
              MAF:
              A=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000017.11:g.18004453G>A, NC_000017.10:g.17907767G>A, NM_031294.4:c.1090G>A, NM_031294.3:c.1090G>A, XM_011524020.3:c.1207G>A, XM_011524020.2:c.1207G>A, XM_011524020.1:c.1207G>A, XM_011524022.3:c.1207G>A, XM_011524022.2:c.1207G>A, XM_011524022.1:c.1207G>A, XM_011524018.3:c.1207G>A, XM_011524018.2:c.1207G>A, XM_011524018.1:c.1207G>A, XM_011524021.3:c.1150G>A, XM_011524021.2:c.1150G>A, XM_011524021.1:c.1150G>A, XM_011524023.3:c.1207G>A, XM_011524023.2:c.1207G>A, XM_011524023.1:c.1207G>A, XM_011524026.3:c.436G>A, XM_011524026.2:c.436G>A, XM_011524026.1:c.436G>A, XM_024450964.2:c.1147G>A, XM_024450964.1:c.1147G>A, XM_024450965.2:c.1147G>A, XM_024450965.1:c.1147G>A, NM_001130091.2:c.1090G>A, NM_001130091.1:c.1090G>A, XM_024450963.2:c.1147G>A, XM_024450963.1:c.1147G>A, NM_001130092.2:c.1090G>A, NM_001130092.1:c.1090G>A, NM_001130090.1:c.1090G>A, XM_047436875.1:c.*47G>A, NP_112584.3:p.Ala364Thr, XP_011522322.1:p.Ala403Thr, XP_011522324.1:p.Ala403Thr, XP_011522320.1:p.Ala403Thr, XP_011522323.1:p.Ala384Thr, XP_011522325.1:p.Ala403Thr, XP_011522328.1:p.Ala146Thr, XP_024306732.1:p.Ala383Thr, XP_024306733.1:p.Ala383Thr, NP_001123563.1:p.Ala364Thr, XP_024306731.1:p.Ala383Thr, NP_001123564.1:p.Ala364Thr, NP_001123562.1:p.Ala364Thr

              7.

              rs1480946305 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                17:17997553 (GRCh38)
                17:17900867 (GRCh37)
                Canonical SPDI:
                NC_000017.11:17997551:GTG:G
                Gene:
                DRC3 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                -=0.000014/2 (GnomAD)
                HGVS:
                NC_000017.11:g.17997553_17997554del, NC_000017.10:g.17900867_17900868del, NM_031294.4:c.918_919del, NM_031294.3:c.918_919del, XM_011524020.3:c.1035_1036del, XM_011524020.2:c.1035_1036del, XM_011524020.1:c.1035_1036del, XM_011524022.3:c.1035_1036del, XM_011524022.2:c.1035_1036del, XM_011524022.1:c.1035_1036del, XM_011524018.3:c.1035_1036del, XM_011524018.2:c.1035_1036del, XM_011524018.1:c.1035_1036del, XM_011524021.3:c.978_979del, XM_011524021.2:c.978_979del, XM_011524021.1:c.978_979del, XM_011524023.3:c.1035_1036del, XM_011524023.2:c.1035_1036del, XM_011524023.1:c.1035_1036del, XM_011524026.3:c.264_265del, XM_011524026.2:c.264_265del, XM_011524026.1:c.264_265del, XM_024450964.2:c.975_976del, XM_024450964.1:c.975_976del, XM_024450965.2:c.975_976del, XM_024450965.1:c.975_976del, NM_001130091.2:c.918_919del, NM_001130091.1:c.918_919del, XM_024450963.2:c.975_976del, XM_024450963.1:c.975_976del, NM_001130092.2:c.918_919del, NM_001130092.1:c.918_919del, NM_001130090.1:c.918_919del, NP_112584.3:p.Ser306fs, XP_011522322.1:p.Ser345fs, XP_011522324.1:p.Ser345fs, XP_011522320.1:p.Ser345fs, XP_011522323.1:p.Ser326fs, XP_011522325.1:p.Ser345fs, XP_011522328.1:p.Ser88fs, XP_024306732.1:p.Ser325fs, XP_024306733.1:p.Ser325fs, NP_001123563.1:p.Ser306fs, XP_024306731.1:p.Ser325fs, NP_001123564.1:p.Ser306fs, NP_001123562.1:p.Ser306fs

                8.

                rs1480776998 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  17:18016621 (GRCh38)
                  17:17919935 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:18016620:C:G
                  Gene:
                  DRC3 (Varview), ATPAF2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,downstream_transcript_variant,intron_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_000017.11:g.18016621C>G, NC_000017.10:g.17919935C>G, NG_012824.1:g.27546G>C, NM_031294.4:c.1522C>G, NM_031294.3:c.1522C>G, XM_011524020.3:c.1639C>G, XM_011524020.2:c.1639C>G, XM_011524020.1:c.1639C>G, XM_011524018.3:c.1639C>G, XM_011524018.2:c.1639C>G, XM_011524018.1:c.1639C>G, XM_011524021.3:c.1582C>G, XM_011524021.2:c.1582C>G, XM_011524021.1:c.1582C>G, XM_011524026.3:c.868C>G, XM_011524026.2:c.868C>G, XM_011524026.1:c.868C>G, XM_024450964.2:c.1579C>G, XM_024450964.1:c.1579C>G, XM_024450965.2:c.1579C>G, XM_024450965.1:c.1579C>G, XM_024450963.2:c.1579C>G, XM_024450963.1:c.1579C>G, NM_001130090.1:c.1522C>G, NP_112584.3:p.His508Asp, XP_011522322.1:p.His547Asp, XP_011522320.1:p.His547Asp, XP_011522323.1:p.His528Asp, XP_011522328.1:p.His290Asp, XP_024306732.1:p.His527Asp, XP_024306733.1:p.His527Asp, XP_024306731.1:p.His527Asp, NP_001123562.1:p.His508Asp

                  9.

                  rs1479159085 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    17:18006226 (GRCh38)
                    17:17909540 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:18006225:G:C
                    Gene:
                    DRC3 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,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_000017.11:g.18006226G>C, NC_000017.10:g.17909540G>C, NM_031294.4:c.1175G>C, NM_031294.3:c.1175G>C, XM_011524020.3:c.1292G>C, XM_011524020.2:c.1292G>C, XM_011524020.1:c.1292G>C, XM_011524022.3:c.1292G>C, XM_011524022.2:c.1292G>C, XM_011524022.1:c.1292G>C, XM_011524018.3:c.1292G>C, XM_011524018.2:c.1292G>C, XM_011524018.1:c.1292G>C, XM_011524021.3:c.1235G>C, XM_011524021.2:c.1235G>C, XM_011524021.1:c.1235G>C, XM_011524023.3:c.1292G>C, XM_011524023.2:c.1292G>C, XM_011524023.1:c.1292G>C, XM_011524026.3:c.521G>C, XM_011524026.2:c.521G>C, XM_011524026.1:c.521G>C, XM_024450964.2:c.1232G>C, XM_024450964.1:c.1232G>C, XM_024450965.2:c.1232G>C, XM_024450965.1:c.1232G>C, NM_001130091.2:c.1175G>C, NM_001130091.1:c.1175G>C, XM_024450963.2:c.1232G>C, XM_024450963.1:c.1232G>C, NM_001130092.2:c.1175G>C, NM_001130092.1:c.1175G>C, NM_001130090.1:c.1175G>C, NP_112584.3:p.Gly392Ala, XP_011522322.1:p.Gly431Ala, XP_011522324.1:p.Gly431Ala, XP_011522320.1:p.Gly431Ala, XP_011522323.1:p.Gly412Ala, XP_011522325.1:p.Gly431Ala, XP_011522328.1:p.Gly174Ala, XP_024306732.1:p.Gly411Ala, XP_024306733.1:p.Gly411Ala, NP_001123563.1:p.Gly392Ala, XP_024306731.1:p.Gly411Ala, NP_001123564.1:p.Gly392Ala, NP_001123562.1:p.Gly392Ala

                    10.

                    rs1478473851 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      17:18007059 (GRCh38)
                      17:17910373 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:18007058:A:T
                      Gene:
                      DRC3 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.18007059A>T, NC_000017.10:g.17910373A>T, NM_031294.4:c.1238A>T, NM_031294.3:c.1238A>T, XM_011524020.3:c.1355A>T, XM_011524020.2:c.1355A>T, XM_011524020.1:c.1355A>T, XM_011524022.3:c.1355A>T, XM_011524022.2:c.1355A>T, XM_011524022.1:c.1355A>T, XM_011524018.3:c.1355A>T, XM_011524018.2:c.1355A>T, XM_011524018.1:c.1355A>T, XM_011524021.3:c.1298A>T, XM_011524021.2:c.1298A>T, XM_011524021.1:c.1298A>T, XM_011524023.3:c.1355A>T, XM_011524023.2:c.1355A>T, XM_011524023.1:c.1355A>T, XM_011524026.3:c.584A>T, XM_011524026.2:c.584A>T, XM_011524026.1:c.584A>T, XM_024450964.2:c.1295A>T, XM_024450964.1:c.1295A>T, XM_024450965.2:c.1295A>T, XM_024450965.1:c.1295A>T, NM_001130091.2:c.1238A>T, NM_001130091.1:c.1238A>T, XM_024450963.2:c.1295A>T, XM_024450963.1:c.1295A>T, NM_001130092.2:c.1238A>T, NM_001130092.1:c.1238A>T, NM_001130090.1:c.1238A>T, NP_112584.3:p.His413Leu, XP_011522322.1:p.His452Leu, XP_011522324.1:p.His452Leu, XP_011522320.1:p.His452Leu, XP_011522323.1:p.His433Leu, XP_011522325.1:p.His452Leu, XP_011522328.1:p.His195Leu, XP_024306732.1:p.His432Leu, XP_024306733.1:p.His432Leu, NP_001123563.1:p.His413Leu, XP_024306731.1:p.His432Leu, NP_001123564.1:p.His413Leu, NP_001123562.1:p.His413Leu

                      11.

                      rs1477625007 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        17:18007124 (GRCh38)
                        17:17910438 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:18007123:G:T
                        Gene:
                        DRC3 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000017.11:g.18007124G>T, NC_000017.10:g.17910438G>T, NM_031294.4:c.1303G>T, NM_031294.3:c.1303G>T, XM_011524020.3:c.1420G>T, XM_011524020.2:c.1420G>T, XM_011524020.1:c.1420G>T, XM_011524022.3:c.1420G>T, XM_011524022.2:c.1420G>T, XM_011524022.1:c.1420G>T, XM_011524018.3:c.1420G>T, XM_011524018.2:c.1420G>T, XM_011524018.1:c.1420G>T, XM_011524021.3:c.1363G>T, XM_011524021.2:c.1363G>T, XM_011524021.1:c.1363G>T, XM_011524023.3:c.1420G>T, XM_011524023.2:c.1420G>T, XM_011524023.1:c.1420G>T, XM_011524026.3:c.649G>T, XM_011524026.2:c.649G>T, XM_011524026.1:c.649G>T, XM_024450964.2:c.1360G>T, XM_024450964.1:c.1360G>T, XM_024450965.2:c.1360G>T, XM_024450965.1:c.1360G>T, NM_001130091.2:c.1303G>T, NM_001130091.1:c.1303G>T, XM_024450963.2:c.1360G>T, XM_024450963.1:c.1360G>T, NM_001130092.2:c.1303G>T, NM_001130092.1:c.1303G>T, NM_001130090.1:c.1303G>T, NP_112584.3:p.Asp435Tyr, XP_011522322.1:p.Asp474Tyr, XP_011522324.1:p.Asp474Tyr, XP_011522320.1:p.Asp474Tyr, XP_011522323.1:p.Asp455Tyr, XP_011522325.1:p.Asp474Tyr, XP_011522328.1:p.Asp217Tyr, XP_024306732.1:p.Asp454Tyr, XP_024306733.1:p.Asp454Tyr, NP_001123563.1:p.Asp435Tyr, XP_024306731.1:p.Asp454Tyr, NP_001123564.1:p.Asp435Tyr, NP_001123562.1:p.Asp435Tyr

                        12.

                        rs1474348438 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          17:17994367 (GRCh38)
                          17:17897681 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:17994366:G:C
                          Gene:
                          DRC3 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          C=0.000012/2 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.17994367G>C, NC_000017.10:g.17897681G>C, NM_031294.4:c.660G>C, NM_031294.3:c.660G>C, XM_011524020.3:c.777G>C, XM_011524020.2:c.777G>C, XM_011524020.1:c.777G>C, XM_011524022.3:c.777G>C, XM_011524022.2:c.777G>C, XM_011524022.1:c.777G>C, XM_011524018.3:c.777G>C, XM_011524018.2:c.777G>C, XM_011524018.1:c.777G>C, XM_011524021.3:c.720G>C, XM_011524021.2:c.720G>C, XM_011524021.1:c.720G>C, XM_011524023.3:c.777G>C, XM_011524023.2:c.777G>C, XM_011524023.1:c.777G>C, XR_934111.3:n.1067G>C, XR_934111.2:n.1114G>C, XR_934111.1:n.1100G>C, XM_011524026.3:c.6G>C, XM_011524026.2:c.6G>C, XM_011524026.1:c.6G>C, XM_024450964.2:c.717G>C, XM_024450964.1:c.717G>C, XM_024450965.2:c.717G>C, XM_024450965.1:c.717G>C, NM_001130091.2:c.660G>C, NM_001130091.1:c.660G>C, XM_024450963.2:c.717G>C, XM_024450963.1:c.717G>C, NM_001130092.2:c.660G>C, NM_001130092.1:c.660G>C, XR_001752656.2:n.1067G>C, XR_001752656.1:n.1114G>C, NM_001130090.1:c.660G>C, XR_007065485.1:n.1067G>C, XM_047436875.1:c.777G>C, NP_112584.3:p.Gln220His, XP_011522322.1:p.Gln259His, XP_011522324.1:p.Gln259His, XP_011522320.1:p.Gln259His, XP_011522323.1:p.Gln240His, XP_011522325.1:p.Gln259His, XP_011522328.1:p.Gln2His, XP_024306732.1:p.Gln239His, XP_024306733.1:p.Gln239His, NP_001123563.1:p.Gln220His, XP_024306731.1:p.Gln239His, NP_001123564.1:p.Gln220His, NP_001123562.1:p.Gln220His, XP_047292831.1:p.Gln259His

                          13.

                          rs1467268530 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:18004474 (GRCh38)
                            17:17907788 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:18004473:C:T
                            Gene:
                            DRC3 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,3_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.18004474C>T, NC_000017.10:g.17907788C>T, NM_031294.4:c.1111C>T, NM_031294.3:c.1111C>T, XM_011524020.3:c.1228C>T, XM_011524020.2:c.1228C>T, XM_011524020.1:c.1228C>T, XM_011524022.3:c.1228C>T, XM_011524022.2:c.1228C>T, XM_011524022.1:c.1228C>T, XM_011524018.3:c.1228C>T, XM_011524018.2:c.1228C>T, XM_011524018.1:c.1228C>T, XM_011524021.3:c.1171C>T, XM_011524021.2:c.1171C>T, XM_011524021.1:c.1171C>T, XM_011524023.3:c.1228C>T, XM_011524023.2:c.1228C>T, XM_011524023.1:c.1228C>T, XM_011524026.3:c.457C>T, XM_011524026.2:c.457C>T, XM_011524026.1:c.457C>T, XM_024450964.2:c.1168C>T, XM_024450964.1:c.1168C>T, XM_024450965.2:c.1168C>T, XM_024450965.1:c.1168C>T, NM_001130091.2:c.1111C>T, NM_001130091.1:c.1111C>T, XM_024450963.2:c.1168C>T, XM_024450963.1:c.1168C>T, NM_001130092.2:c.1111C>T, NM_001130092.1:c.1111C>T, NM_001130090.1:c.1111C>T, XM_047436875.1:c.*68C>T, NP_112584.3:p.Gln371Ter, XP_011522322.1:p.Gln410Ter, XP_011522324.1:p.Gln410Ter, XP_011522320.1:p.Gln410Ter, XP_011522323.1:p.Gln391Ter, XP_011522325.1:p.Gln410Ter, XP_011522328.1:p.Gln153Ter, XP_024306732.1:p.Gln390Ter, XP_024306733.1:p.Gln390Ter, NP_001123563.1:p.Gln371Ter, XP_024306731.1:p.Gln390Ter, NP_001123564.1:p.Gln371Ter, NP_001123562.1:p.Gln371Ter

                            14.

                            rs1459977522 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A,C,T [Show Flanks]
                              Chromosome:
                              17:17997634 (GRCh38)
                              17:17900948 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:17997633:G:A,NC_000017.11:17997633:G:C,NC_000017.11:17997633:G:T
                              Gene:
                              DRC3 (Varview)
                              Functional Consequence:
                              downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000009/2 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.17997634G>A, NC_000017.11:g.17997634G>C, NC_000017.11:g.17997634G>T, NC_000017.10:g.17900948G>A, NC_000017.10:g.17900948G>C, NC_000017.10:g.17900948G>T, NM_031294.4:c.999G>A, NM_031294.4:c.999G>C, NM_031294.4:c.999G>T, NM_031294.3:c.999G>A, NM_031294.3:c.999G>C, NM_031294.3:c.999G>T, XM_011524020.3:c.1116G>A, XM_011524020.3:c.1116G>C, XM_011524020.3:c.1116G>T, XM_011524020.2:c.1116G>A, XM_011524020.2:c.1116G>C, XM_011524020.2:c.1116G>T, XM_011524020.1:c.1116G>A, XM_011524020.1:c.1116G>C, XM_011524020.1:c.1116G>T, XM_011524022.3:c.1116G>A, XM_011524022.3:c.1116G>C, XM_011524022.3:c.1116G>T, XM_011524022.2:c.1116G>A, XM_011524022.2:c.1116G>C, XM_011524022.2:c.1116G>T, XM_011524022.1:c.1116G>A, XM_011524022.1:c.1116G>C, XM_011524022.1:c.1116G>T, XM_011524018.3:c.1116G>A, XM_011524018.3:c.1116G>C, XM_011524018.3:c.1116G>T, XM_011524018.2:c.1116G>A, XM_011524018.2:c.1116G>C, XM_011524018.2:c.1116G>T, XM_011524018.1:c.1116G>A, XM_011524018.1:c.1116G>C, XM_011524018.1:c.1116G>T, XM_011524021.3:c.1059G>A, XM_011524021.3:c.1059G>C, XM_011524021.3:c.1059G>T, XM_011524021.2:c.1059G>A, XM_011524021.2:c.1059G>C, XM_011524021.2:c.1059G>T, XM_011524021.1:c.1059G>A, XM_011524021.1:c.1059G>C, XM_011524021.1:c.1059G>T, XM_011524023.3:c.1116G>A, XM_011524023.3:c.1116G>C, XM_011524023.3:c.1116G>T, XM_011524023.2:c.1116G>A, XM_011524023.2:c.1116G>C, XM_011524023.2:c.1116G>T, XM_011524023.1:c.1116G>A, XM_011524023.1:c.1116G>C, XM_011524023.1:c.1116G>T, XM_011524026.3:c.345G>A, XM_011524026.3:c.345G>C, XM_011524026.3:c.345G>T, XM_011524026.2:c.345G>A, XM_011524026.2:c.345G>C, XM_011524026.2:c.345G>T, XM_011524026.1:c.345G>A, XM_011524026.1:c.345G>C, XM_011524026.1:c.345G>T, XM_024450964.2:c.1056G>A, XM_024450964.2:c.1056G>C, XM_024450964.2:c.1056G>T, XM_024450964.1:c.1056G>A, XM_024450964.1:c.1056G>C, XM_024450964.1:c.1056G>T, XM_024450965.2:c.1056G>A, XM_024450965.2:c.1056G>C, XM_024450965.2:c.1056G>T, XM_024450965.1:c.1056G>A, XM_024450965.1:c.1056G>C, XM_024450965.1:c.1056G>T, NM_001130091.2:c.999G>A, NM_001130091.2:c.999G>C, NM_001130091.2:c.999G>T, NM_001130091.1:c.999G>A, NM_001130091.1:c.999G>C, NM_001130091.1:c.999G>T, XM_024450963.2:c.1056G>A, XM_024450963.2:c.1056G>C, XM_024450963.2:c.1056G>T, XM_024450963.1:c.1056G>A, XM_024450963.1:c.1056G>C, XM_024450963.1:c.1056G>T, NM_001130092.2:c.999G>A, NM_001130092.2:c.999G>C, NM_001130092.2:c.999G>T, NM_001130092.1:c.999G>A, NM_001130092.1:c.999G>C, NM_001130092.1:c.999G>T, NM_001130090.1:c.999G>A, NM_001130090.1:c.999G>C, NM_001130090.1:c.999G>T

                              15.

                              rs1459492866 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:18007055 (GRCh38)
                                17:17910369 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:18007054:C:T
                                Gene:
                                DRC3 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000009/2 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.18007055C>T, NC_000017.10:g.17910369C>T, NM_031294.4:c.1234C>T, NM_031294.3:c.1234C>T, XM_011524020.3:c.1351C>T, XM_011524020.2:c.1351C>T, XM_011524020.1:c.1351C>T, XM_011524022.3:c.1351C>T, XM_011524022.2:c.1351C>T, XM_011524022.1:c.1351C>T, XM_011524018.3:c.1351C>T, XM_011524018.2:c.1351C>T, XM_011524018.1:c.1351C>T, XM_011524021.3:c.1294C>T, XM_011524021.2:c.1294C>T, XM_011524021.1:c.1294C>T, XM_011524023.3:c.1351C>T, XM_011524023.2:c.1351C>T, XM_011524023.1:c.1351C>T, XM_011524026.3:c.580C>T, XM_011524026.2:c.580C>T, XM_011524026.1:c.580C>T, XM_024450964.2:c.1291C>T, XM_024450964.1:c.1291C>T, XM_024450965.2:c.1291C>T, XM_024450965.1:c.1291C>T, NM_001130091.2:c.1234C>T, NM_001130091.1:c.1234C>T, XM_024450963.2:c.1291C>T, XM_024450963.1:c.1291C>T, NM_001130092.2:c.1234C>T, NM_001130092.1:c.1234C>T, NM_001130090.1:c.1234C>T, NP_112584.3:p.His412Tyr, XP_011522322.1:p.His451Tyr, XP_011522324.1:p.His451Tyr, XP_011522320.1:p.His451Tyr, XP_011522323.1:p.His432Tyr, XP_011522325.1:p.His451Tyr, XP_011522328.1:p.His194Tyr, XP_024306732.1:p.His431Tyr, XP_024306733.1:p.His431Tyr, NP_001123563.1:p.His412Tyr, XP_024306731.1:p.His431Tyr, NP_001123564.1:p.His412Tyr, NP_001123562.1:p.His412Tyr

                                16.

                                rs1457261451 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  17:18004457 (GRCh38)
                                  17:17907771 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:18004456:T:C
                                  Gene:
                                  DRC3 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.18004457T>C, NC_000017.10:g.17907771T>C, NM_031294.4:c.1094T>C, NM_031294.3:c.1094T>C, XM_011524020.3:c.1211T>C, XM_011524020.2:c.1211T>C, XM_011524020.1:c.1211T>C, XM_011524022.3:c.1211T>C, XM_011524022.2:c.1211T>C, XM_011524022.1:c.1211T>C, XM_011524018.3:c.1211T>C, XM_011524018.2:c.1211T>C, XM_011524018.1:c.1211T>C, XM_011524021.3:c.1154T>C, XM_011524021.2:c.1154T>C, XM_011524021.1:c.1154T>C, XM_011524023.3:c.1211T>C, XM_011524023.2:c.1211T>C, XM_011524023.1:c.1211T>C, XM_011524026.3:c.440T>C, XM_011524026.2:c.440T>C, XM_011524026.1:c.440T>C, XM_024450964.2:c.1151T>C, XM_024450964.1:c.1151T>C, XM_024450965.2:c.1151T>C, XM_024450965.1:c.1151T>C, NM_001130091.2:c.1094T>C, NM_001130091.1:c.1094T>C, XM_024450963.2:c.1151T>C, XM_024450963.1:c.1151T>C, NM_001130092.2:c.1094T>C, NM_001130092.1:c.1094T>C, NM_001130090.1:c.1094T>C, XM_047436875.1:c.*51T>C, NP_112584.3:p.Leu365Pro, XP_011522322.1:p.Leu404Pro, XP_011522324.1:p.Leu404Pro, XP_011522320.1:p.Leu404Pro, XP_011522323.1:p.Leu385Pro, XP_011522325.1:p.Leu404Pro, XP_011522328.1:p.Leu147Pro, XP_024306732.1:p.Leu384Pro, XP_024306733.1:p.Leu384Pro, NP_001123563.1:p.Leu365Pro, XP_024306731.1:p.Leu384Pro, NP_001123564.1:p.Leu365Pro, NP_001123562.1:p.Leu365Pro

                                  17.

                                  rs1457208963 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:17992885 (GRCh38)
                                    17:17896199 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:17992884:G:A
                                    Gene:
                                    DRC3 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.17992885G>A, NC_000017.10:g.17896199G>A, NM_031294.4:c.565G>A, NM_031294.3:c.565G>A, XM_011524020.3:c.625G>A, XM_011524020.2:c.625G>A, XM_011524020.1:c.625G>A, XM_011524022.3:c.625G>A, XM_011524022.2:c.625G>A, XM_011524022.1:c.625G>A, XM_011524018.3:c.625G>A, XM_011524018.2:c.625G>A, XM_011524018.1:c.625G>A, XM_011524021.3:c.625G>A, XM_011524021.2:c.625G>A, XM_011524021.1:c.625G>A, XM_011524023.3:c.625G>A, XM_011524023.2:c.625G>A, XM_011524023.1:c.625G>A, XR_934111.3:n.915G>A, XR_934111.2:n.962G>A, XR_934111.1:n.948G>A, XM_024450964.2:c.565G>A, XM_024450964.1:c.565G>A, XM_024450965.2:c.565G>A, XM_024450965.1:c.565G>A, NM_001130091.2:c.565G>A, NM_001130091.1:c.565G>A, XM_024450963.2:c.565G>A, XM_024450963.1:c.565G>A, NM_001130092.2:c.565G>A, NM_001130092.1:c.565G>A, XR_001752656.2:n.915G>A, XR_001752656.1:n.962G>A, NM_001130090.1:c.565G>A, XR_007065485.1:n.915G>A, XM_047436875.1:c.625G>A, NP_112584.3:p.Asp189Asn, XP_011522322.1:p.Asp209Asn, XP_011522324.1:p.Asp209Asn, XP_011522320.1:p.Asp209Asn, XP_011522323.1:p.Asp209Asn, XP_011522325.1:p.Asp209Asn, XP_024306732.1:p.Asp189Asn, XP_024306733.1:p.Asp189Asn, NP_001123563.1:p.Asp189Asn, XP_024306731.1:p.Asp189Asn, NP_001123564.1:p.Asp189Asn, NP_001123562.1:p.Asp189Asn, XP_047292831.1:p.Asp209Asn

                                    18.

                                    rs1457091273 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      17:17977699 (GRCh38)
                                      17:17881013 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:17977698:T:C
                                      Gene:
                                      DRC3 (Varview), LOC107984989 (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.17977699T>C, NC_000017.10:g.17881013T>C, NM_031294.4:c.101T>C, NM_031294.3:c.101T>C, XM_011524020.3:c.101T>C, XM_011524020.2:c.101T>C, XM_011524020.1:c.101T>C, XM_011524022.3:c.101T>C, XM_011524022.2:c.101T>C, XM_011524022.1:c.101T>C, XM_011524018.3:c.101T>C, XM_011524018.2:c.101T>C, XM_011524018.1:c.101T>C, XM_011524021.3:c.101T>C, XM_011524021.2:c.101T>C, XM_011524021.1:c.101T>C, XM_011524023.3:c.101T>C, XM_011524023.2:c.101T>C, XM_011524023.1:c.101T>C, XR_934111.3:n.391T>C, XR_934111.2:n.438T>C, XR_934111.1:n.424T>C, XM_024450964.2:c.101T>C, XM_024450964.1:c.101T>C, XM_024450965.2:c.101T>C, XM_024450965.1:c.101T>C, NM_001130091.2:c.101T>C, NM_001130091.1:c.101T>C, XM_024450963.2:c.101T>C, XM_024450963.1:c.101T>C, NM_001130092.2:c.101T>C, NM_001130092.1:c.101T>C, XR_001752656.2:n.391T>C, XR_001752656.1:n.438T>C, XR_001752801.2:n.718A>G, XR_001752801.1:n.1639A>G, NM_001130090.1:c.101T>C, XR_007065485.1:n.391T>C, XM_047436875.1:c.101T>C, NP_112584.3:p.Leu34Pro, XP_011522322.1:p.Leu34Pro, XP_011522324.1:p.Leu34Pro, XP_011522320.1:p.Leu34Pro, XP_011522323.1:p.Leu34Pro, XP_011522325.1:p.Leu34Pro, XP_024306732.1:p.Leu34Pro, XP_024306733.1:p.Leu34Pro, NP_001123563.1:p.Leu34Pro, XP_024306731.1:p.Leu34Pro, NP_001123564.1:p.Leu34Pro, NP_001123562.1:p.Leu34Pro, XP_047292831.1:p.Leu34Pro

                                      19.

                                      rs1453348184 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:17995001 (GRCh38)
                                        17:17898315 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:17995000:T:C
                                        Gene:
                                        DRC3 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.17995001T>C, NC_000017.10:g.17898315T>C, NM_031294.4:c.714T>C, NM_031294.3:c.714T>C, XM_011524020.3:c.831T>C, XM_011524020.2:c.831T>C, XM_011524020.1:c.831T>C, XM_011524022.3:c.831T>C, XM_011524022.2:c.831T>C, XM_011524022.1:c.831T>C, XM_011524018.3:c.831T>C, XM_011524018.2:c.831T>C, XM_011524018.1:c.831T>C, XM_011524021.3:c.774T>C, XM_011524021.2:c.774T>C, XM_011524021.1:c.774T>C, XM_011524023.3:c.831T>C, XM_011524023.2:c.831T>C, XM_011524023.1:c.831T>C, XR_934111.3:n.1121T>C, XR_934111.2:n.1168T>C, XR_934111.1:n.1154T>C, XM_011524026.3:c.60T>C, XM_011524026.2:c.60T>C, XM_011524026.1:c.60T>C, XM_024450964.2:c.771T>C, XM_024450964.1:c.771T>C, XM_024450965.2:c.771T>C, XM_024450965.1:c.771T>C, NM_001130091.2:c.714T>C, NM_001130091.1:c.714T>C, XM_024450963.2:c.771T>C, XM_024450963.1:c.771T>C, NM_001130092.2:c.714T>C, NM_001130092.1:c.714T>C, XR_001752656.2:n.1121T>C, XR_001752656.1:n.1168T>C, NM_001130090.1:c.714T>C, XR_007065485.1:n.1121T>C, XM_047436875.1:c.831T>C

                                        20.

                                        rs1449535596 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          17:17977647 (GRCh38)
                                          17:17880961 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:17977646:A:G
                                          Gene:
                                          DRC3 (Varview), LOC107984989 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000019/5 (TOPMED)
                                          G=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.17977647A>G, NC_000017.10:g.17880961A>G, NM_031294.4:c.49A>G, NM_031294.3:c.49A>G, XM_011524020.3:c.49A>G, XM_011524020.2:c.49A>G, XM_011524020.1:c.49A>G, XM_011524022.3:c.49A>G, XM_011524022.2:c.49A>G, XM_011524022.1:c.49A>G, XM_011524018.3:c.49A>G, XM_011524018.2:c.49A>G, XM_011524018.1:c.49A>G, XM_011524021.3:c.49A>G, XM_011524021.2:c.49A>G, XM_011524021.1:c.49A>G, XM_011524023.3:c.49A>G, XM_011524023.2:c.49A>G, XM_011524023.1:c.49A>G, XR_934111.3:n.339A>G, XR_934111.2:n.386A>G, XR_934111.1:n.372A>G, XM_024450964.2:c.49A>G, XM_024450964.1:c.49A>G, XM_024450965.2:c.49A>G, XM_024450965.1:c.49A>G, NM_001130091.2:c.49A>G, NM_001130091.1:c.49A>G, XM_024450963.2:c.49A>G, XM_024450963.1:c.49A>G, NM_001130092.2:c.49A>G, NM_001130092.1:c.49A>G, XR_001752656.2:n.339A>G, XR_001752656.1:n.386A>G, XR_001752801.2:n.770T>C, XR_001752801.1:n.1691T>C, NM_001130090.1:c.49A>G, XR_007065485.1:n.339A>G, XM_047436875.1:c.49A>G, NP_112584.3:p.Met17Val, XP_011522322.1:p.Met17Val, XP_011522324.1:p.Met17Val, XP_011522320.1:p.Met17Val, XP_011522323.1:p.Met17Val, XP_011522325.1:p.Met17Val, XP_024306732.1:p.Met17Val, XP_024306733.1:p.Met17Val, NP_001123563.1:p.Met17Val, XP_024306731.1:p.Met17Val, NP_001123564.1:p.Met17Val, NP_001123562.1:p.Met17Val, XP_047292831.1:p.Met17Val

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