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Items: 1 to 20 of 341

1.

rs1489026569 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    14:24233307 (GRCh38)
    14:24702513 (GRCh37)
    Canonical SPDI:
    NC_000014.9:24233306:G:A,NC_000014.9:24233306:G:C
    Gene:
    NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
    Functional Consequence:
    2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000014.9:g.24233307G>A, NC_000014.9:g.24233307G>C, NG_051059.1:g.4079C>T, NG_051059.1:g.4079C>G, NG_054634.1:g.5891G>A, NG_054634.1:g.5891G>C, NM_016576.5:c.108G>A, NM_016576.5:c.108G>C, NM_016576.4:c.108G>A, NM_016576.4:c.108G>C, NM_016576.3:c.108G>A, NM_016576.3:c.108G>C, NM_001002000.3:c.54G>A, NM_001002000.3:c.54G>C, NM_001002000.2:c.54G>A, NM_001002000.2:c.54G>C, NM_001002000.1:c.54G>A, NM_001002000.1:c.54G>C, NM_001002001.3:c.54G>A, NM_001002001.3:c.54G>C, NM_001002001.2:c.54G>A, NM_001002001.2:c.54G>C, NM_001002001.1:c.54G>A, NM_001002001.1:c.54G>C, NM_001002002.3:c.54G>A, NM_001002002.3:c.54G>C, NM_001002002.2:c.54G>A, NM_001002002.2:c.54G>C, NM_001002002.1:c.54G>A, NM_001002002.1:c.54G>C, NM_001283021.2:c.-190G>A, NM_001283021.2:c.-190G>C, NM_001283021.1:c.-190G>A, NM_001283021.1:c.-190G>C, NM_001283022.2:c.108G>A, NM_001283022.2:c.108G>C, NM_001283022.1:c.108G>A, NM_001283022.1:c.108G>C, NM_001351022.2:c.54G>A, NM_001351022.2:c.54G>C, NM_001351022.1:c.54G>A, NM_001351022.1:c.54G>C, NM_001351024.2:c.-190G>A, NM_001351024.2:c.-190G>C, NM_001351024.1:c.-190G>A, NM_001351024.1:c.-190G>C, NM_001351023.2:c.54G>A, NM_001351023.2:c.54G>C, NM_001351023.1:c.54G>A, NM_001351023.1:c.54G>C, NM_001351025.2:c.-190G>A, NM_001351025.2:c.-190G>C, NM_001351025.1:c.-190G>A, NM_001351025.1:c.-190G>C, NR_104265.2:n.315G>A, NR_104265.2:n.315G>C, NR_104265.1:n.515G>A, NR_104265.1:n.515G>C, NM_001351026.2:c.-190G>A, NM_001351026.2:c.-190G>C, NM_001351026.1:c.-190G>A, NM_001351026.1:c.-190G>C, NM_001283023.2:c.54G>A, NM_001283023.2:c.54G>C, NM_001283023.1:c.54G>A, NM_001283023.1:c.54G>C, NW_018654722.1:g.534285G>A, NW_018654722.1:g.534285G>C, NC_000014.8:g.24702513G>A, NC_000014.8:g.24702513G>C, NP_057660.2:p.Arg36Ser, NP_001002000.1:p.Arg18Ser, NP_001002001.1:p.Arg18Ser, NP_001002002.1:p.Arg18Ser, NP_001269951.1:p.Arg36Ser, NP_001337951.1:p.Arg18Ser, NP_001337952.1:p.Arg18Ser, NP_001269952.1:p.Arg18Ser

    2.

    rs1488937883 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      14:24235969 (GRCh38)
      14:24705175 (GRCh37)
      Canonical SPDI:
      NC_000014.9:24235968:T:G
      Gene:
      GMPR2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000014.9:g.24235969T>G, NG_051059.1:g.1417A>C, NG_054634.1:g.8553T>G, NM_016576.5:c.348T>G, NM_016576.4:c.348T>G, NM_016576.3:c.348T>G, NM_001002000.3:c.294T>G, NM_001002000.2:c.294T>G, NM_001002000.1:c.294T>G, NM_001002001.3:c.294T>G, NM_001002001.2:c.294T>G, NM_001002001.1:c.294T>G, NM_001002002.3:c.294T>G, NM_001002002.2:c.294T>G, NM_001002002.1:c.294T>G, NM_001283021.2:c.186T>G, NM_001283021.1:c.186T>G, NM_001283022.2:c.348T>G, NM_001283022.1:c.348T>G, NM_001351022.2:c.294T>G, NM_001351022.1:c.294T>G, NM_001351024.2:c.186T>G, NM_001351024.1:c.186T>G, NM_001351023.2:c.294T>G, NM_001351023.1:c.294T>G, NM_001351025.2:c.186T>G, NM_001351025.1:c.186T>G, NR_104265.2:n.550T>G, NR_104265.1:n.750T>G, NM_001351026.2:c.186T>G, NM_001351026.1:c.186T>G, NM_001283023.2:c.210T>G, NM_001283023.1:c.210T>G, NW_018654722.1:g.536947T>G, NC_000014.8:g.24705175T>G, NP_057660.2:p.His116Gln, NP_001002000.1:p.His98Gln, NP_001002001.1:p.His98Gln, NP_001002002.1:p.His98Gln, NP_001269950.1:p.His62Gln, NP_001269951.1:p.His116Gln, NP_001337951.1:p.His98Gln, NP_001337953.1:p.His62Gln, NP_001337952.1:p.His98Gln, NP_001337954.1:p.His62Gln, NP_001337955.1:p.His62Gln, NP_001269952.1:p.His70Gln

      3.

      rs1486769957 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        14:24236006 (GRCh38)
        14:24705212 (GRCh37)
        Canonical SPDI:
        NC_000014.9:24236005:G:C
        Gene:
        GMPR2 (Varview)
        Functional Consequence:
        coding_sequence_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        C=0.000008/2 (GnomAD_exomes)
        C=0.000023/6 (TOPMED)
        HGVS:
        NC_000014.9:g.24236006G>C, NG_051059.1:g.1380C>G, NG_054634.1:g.8590G>C, NM_016576.5:c.385G>C, NM_016576.4:c.385G>C, NM_016576.3:c.385G>C, NM_001002000.3:c.331G>C, NM_001002000.2:c.331G>C, NM_001002000.1:c.331G>C, NM_001002001.3:c.331G>C, NM_001002001.2:c.331G>C, NM_001002001.1:c.331G>C, NM_001002002.3:c.331G>C, NM_001002002.2:c.331G>C, NM_001002002.1:c.331G>C, NM_001283021.2:c.223G>C, NM_001283021.1:c.223G>C, NM_001283022.2:c.385G>C, NM_001283022.1:c.385G>C, NM_001351022.2:c.331G>C, NM_001351022.1:c.331G>C, NM_001351024.2:c.223G>C, NM_001351024.1:c.223G>C, NM_001351023.2:c.331G>C, NM_001351023.1:c.331G>C, NM_001351025.2:c.223G>C, NM_001351025.1:c.223G>C, NR_104265.2:n.587G>C, NR_104265.1:n.787G>C, NM_001351026.2:c.223G>C, NM_001351026.1:c.223G>C, NM_001283023.2:c.247G>C, NM_001283023.1:c.247G>C, NW_018654722.1:g.536984G>C, NC_000014.8:g.24705212G>C, NP_057660.2:p.Glu129Gln, NP_001002000.1:p.Glu111Gln, NP_001002001.1:p.Glu111Gln, NP_001002002.1:p.Glu111Gln, NP_001269950.1:p.Glu75Gln, NP_001269951.1:p.Glu129Gln, NP_001337951.1:p.Glu111Gln, NP_001337953.1:p.Glu75Gln, NP_001337952.1:p.Glu111Gln, NP_001337954.1:p.Glu75Gln, NP_001337955.1:p.Glu75Gln, NP_001269952.1:p.Glu83Gln

        4.

        rs1485017161 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          14:24238686 (GRCh38)
          14:24707892 (GRCh37)
          Canonical SPDI:
          NC_000014.9:24238685:G:A
          Gene:
          GMPR2 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000008/2 (TOPMED)
          HGVS:
          NC_000014.9:g.24238686G>A, NG_054634.1:g.11270G>A, NM_016576.5:c.1009G>A, NM_016576.4:c.1009G>A, NM_016576.3:c.1009G>A, NM_001002000.3:c.955G>A, NM_001002000.2:c.955G>A, NM_001002000.1:c.955G>A, NM_001002001.3:c.955G>A, NM_001002001.2:c.955G>A, NM_001002001.1:c.955G>A, NM_001002002.3:c.955G>A, NM_001002002.2:c.955G>A, NM_001002002.1:c.955G>A, NM_001283021.2:c.1030G>A, NM_001283021.1:c.1030G>A, NM_001283022.2:c.1192G>A, NM_001283022.1:c.1192G>A, NM_001351022.2:c.1138G>A, NM_001351022.1:c.1138G>A, NM_001351024.2:c.847G>A, NM_001351024.1:c.847G>A, NM_001351023.2:c.1138G>A, NM_001351023.1:c.1138G>A, NM_001351025.2:c.847G>A, NM_001351025.1:c.847G>A, NR_104265.2:n.1240G>A, NR_104265.1:n.1440G>A, NM_001351026.2:c.847G>A, NM_001351026.1:c.847G>A, NM_001283023.2:c.871G>A, NM_001283023.1:c.871G>A, NG_016650.1:g.8989C>T, NW_018654722.1:g.539664G>A, NC_000014.8:g.24707892G>A, NP_057660.2:p.Val337Met, NP_001002000.1:p.Val319Met, NP_001002001.1:p.Val319Met, NP_001002002.1:p.Val319Met, NP_001269950.1:p.Val344Met, NP_001269951.1:p.Val398Met, NP_001337951.1:p.Val380Met, NP_001337953.1:p.Val283Met, NP_001337952.1:p.Val380Met, NP_001337954.1:p.Val283Met, NP_001337955.1:p.Val283Met, NP_001269952.1:p.Val291Met

          5.

          rs1481836433 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:24235782 (GRCh38)
            14:24704988 (GRCh37)
            Canonical SPDI:
            NC_000014.9:24235781:T:C
            Gene:
            GMPR2 (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.24235782T>C, NG_051059.1:g.1604A>G, NG_054634.1:g.8366T>C, NM_016576.5:c.307T>C, NM_016576.4:c.307T>C, NM_016576.3:c.307T>C, NM_001002000.3:c.253T>C, NM_001002000.2:c.253T>C, NM_001002000.1:c.253T>C, NM_001002001.3:c.253T>C, NM_001002001.2:c.253T>C, NM_001002001.1:c.253T>C, NM_001002002.3:c.253T>C, NM_001002002.2:c.253T>C, NM_001002002.1:c.253T>C, NM_001283021.2:c.145T>C, NM_001283021.1:c.145T>C, NM_001283022.2:c.307T>C, NM_001283022.1:c.307T>C, NM_001351022.2:c.253T>C, NM_001351022.1:c.253T>C, NM_001351024.2:c.145T>C, NM_001351024.1:c.145T>C, NM_001351023.2:c.253T>C, NM_001351023.1:c.253T>C, NM_001351025.2:c.145T>C, NM_001351025.1:c.145T>C, NR_104265.2:n.509T>C, NR_104265.1:n.709T>C, NM_001351026.2:c.145T>C, NM_001351026.1:c.145T>C, NW_018654722.1:g.536760T>C, NC_000014.8:g.24704988T>C, NP_057660.2:p.Trp103Arg, NP_001002000.1:p.Trp85Arg, NP_001002001.1:p.Trp85Arg, NP_001002002.1:p.Trp85Arg, NP_001269950.1:p.Trp49Arg, NP_001269951.1:p.Trp103Arg, NP_001337951.1:p.Trp85Arg, NP_001337953.1:p.Trp49Arg, NP_001337952.1:p.Trp85Arg, NP_001337954.1:p.Trp49Arg, NP_001337955.1:p.Trp49Arg

            6.

            rs1480262399 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              14:24233310 (GRCh38)
              14:24702516 (GRCh37)
              Canonical SPDI:
              NC_000014.9:24233309:C:G
              Gene:
              NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.24233310C>G, NG_051059.1:g.4076G>C, NG_054634.1:g.5894C>G, NM_016576.5:c.111C>G, NM_016576.4:c.111C>G, NM_016576.3:c.111C>G, NM_001002000.3:c.57C>G, NM_001002000.2:c.57C>G, NM_001002000.1:c.57C>G, NM_001002001.3:c.57C>G, NM_001002001.2:c.57C>G, NM_001002001.1:c.57C>G, NM_001002002.3:c.57C>G, NM_001002002.2:c.57C>G, NM_001002002.1:c.57C>G, NM_001283021.2:c.-187C>G, NM_001283021.1:c.-187C>G, NM_001283022.2:c.111C>G, NM_001283022.1:c.111C>G, NM_001351022.2:c.57C>G, NM_001351022.1:c.57C>G, NM_001351024.2:c.-187C>G, NM_001351024.1:c.-187C>G, NM_001351023.2:c.57C>G, NM_001351023.1:c.57C>G, NM_001351025.2:c.-187C>G, NM_001351025.1:c.-187C>G, NR_104265.2:n.318C>G, NR_104265.1:n.518C>G, NM_001351026.2:c.-187C>G, NM_001351026.1:c.-187C>G, NM_001283023.2:c.57C>G, NM_001283023.1:c.57C>G, NW_018654722.1:g.534288C>G, NC_000014.8:g.24702516C>G

              7.

              rs1472849684 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                14:24238723 (GRCh38)
                14:24707929 (GRCh37)
                Canonical SPDI:
                NC_000014.9:24238722:C:G
                Gene:
                GMPR2 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000014.9:g.24238723C>G, NG_054634.1:g.11307C>G, NM_016576.5:c.1046C>G, NM_016576.4:c.1046C>G, NM_016576.3:c.1046C>G, NM_001002000.3:c.992C>G, NM_001002000.2:c.992C>G, NM_001002000.1:c.992C>G, NM_001002001.3:c.992C>G, NM_001002001.2:c.992C>G, NM_001002001.1:c.992C>G, NM_001002002.3:c.992C>G, NM_001002002.2:c.992C>G, NM_001002002.1:c.992C>G, NM_001283021.2:c.1067C>G, NM_001283021.1:c.1067C>G, NM_001283022.2:c.1229C>G, NM_001283022.1:c.1229C>G, NM_001351022.2:c.1175C>G, NM_001351022.1:c.1175C>G, NM_001351024.2:c.884C>G, NM_001351024.1:c.884C>G, NM_001351023.2:c.1175C>G, NM_001351023.1:c.1175C>G, NM_001351025.2:c.884C>G, NM_001351025.1:c.884C>G, NR_104265.2:n.1277C>G, NR_104265.1:n.1477C>G, NM_001351026.2:c.884C>G, NM_001351026.1:c.884C>G, NM_001283023.2:c.908C>G, NM_001283023.1:c.908C>G, NG_016650.1:g.8952G>C, NW_018654722.1:g.539701C>G, NC_000014.8:g.24707929C>G, NP_057660.2:p.Thr349Ser, NP_001002000.1:p.Thr331Ser, NP_001002001.1:p.Thr331Ser, NP_001002002.1:p.Thr331Ser, NP_001269950.1:p.Thr356Ser, NP_001269951.1:p.Thr410Ser, NP_001337951.1:p.Thr392Ser, NP_001337953.1:p.Thr295Ser, NP_001337952.1:p.Thr392Ser, NP_001337954.1:p.Thr295Ser, NP_001337955.1:p.Thr295Ser, NP_001269952.1:p.Thr303Ser

                8.

                rs1471283406 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AC>- [Show Flanks]
                  Chromosome:
                  14:24236132 (GRCh38)
                  14:24705338 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:24236128:CACAC:CAC
                  Gene:
                  GMPR2 (Varview)
                  Functional Consequence:
                  frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  -=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.24236130AC[1], NG_051059.1:g.1254TG[1], NG_054634.1:g.8714AC[1], NM_016576.5:c.511_512del, NM_016576.4:c.511_512del, NM_016576.3:c.511_512del, NM_001002000.3:c.457_458del, NM_001002000.2:c.457_458del, NM_001002000.1:c.457_458del, NM_001002001.3:c.457_458del, NM_001002001.2:c.457_458del, NM_001002001.1:c.457_458del, NM_001002002.3:c.457_458del, NM_001002002.2:c.457_458del, NM_001002002.1:c.457_458del, NM_001283021.2:c.349_350del, NM_001283021.1:c.349_350del, NM_001283022.2:c.511_512del, NM_001283022.1:c.511_512del, NM_001351022.2:c.457_458del, NM_001351022.1:c.457_458del, NM_001351024.2:c.349_350del, NM_001351024.1:c.349_350del, NM_001351023.2:c.457_458del, NM_001351023.1:c.457_458del, NM_001351025.2:c.349_350del, NM_001351025.1:c.349_350del, NR_104265.2:n.711AC[1], NR_104265.1:n.911AC[1], NM_001351026.2:c.349_350del, NM_001351026.1:c.349_350del, NM_001283023.2:c.373_374del, NM_001283023.1:c.373_374del, NW_018654722.1:g.537108AC[1], NC_000014.8:g.24705336AC[1], NP_057660.2:p.Thr171fs, NP_001002000.1:p.Thr153fs, NP_001002001.1:p.Thr153fs, NP_001002002.1:p.Thr153fs, NP_001269950.1:p.Thr117fs, NP_001269951.1:p.Thr171fs, NP_001337951.1:p.Thr153fs, NP_001337953.1:p.Thr117fs, NP_001337952.1:p.Thr153fs, NP_001337954.1:p.Thr117fs, NP_001337955.1:p.Thr117fs, NP_001269952.1:p.Thr125fs

                  9.

                  rs1471149996 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    14:24238373 (GRCh38)
                    14:24707579 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:24238372:G:C
                    Gene:
                    GMPR2 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000014.9:g.24238373G>C, NG_054634.1:g.10957G>C, NM_016576.5:c.879G>C, NM_016576.4:c.879G>C, NM_016576.3:c.879G>C, NM_001002000.3:c.825G>C, NM_001002000.2:c.825G>C, NM_001002000.1:c.825G>C, NM_001002001.3:c.825G>C, NM_001002001.2:c.825G>C, NM_001002001.1:c.825G>C, NM_001002002.3:c.825G>C, NM_001002002.2:c.825G>C, NM_001002002.1:c.825G>C, NM_001283021.2:c.717G>C, NM_001283021.1:c.717G>C, NM_001283022.2:c.879G>C, NM_001283022.1:c.879G>C, NM_001351022.2:c.825G>C, NM_001351022.1:c.825G>C, NM_001351024.2:c.717G>C, NM_001351024.1:c.717G>C, NM_001351023.2:c.825G>C, NM_001351023.1:c.825G>C, NM_001351025.2:c.717G>C, NM_001351025.1:c.717G>C, NR_104265.2:n.1110G>C, NR_104265.1:n.1310G>C, NM_001351026.2:c.717G>C, NM_001351026.1:c.717G>C, NM_001283023.2:c.741G>C, NM_001283023.1:c.741G>C, NG_016650.1:g.9302C>G, NW_018654722.1:g.539351G>C, NC_000014.8:g.24707579G>C, NP_057660.2:p.Met293Ile, NP_001002000.1:p.Met275Ile, NP_001002001.1:p.Met275Ile, NP_001002002.1:p.Met275Ile, NP_001269950.1:p.Met239Ile, NP_001269951.1:p.Met293Ile, NP_001337951.1:p.Met275Ile, NP_001337953.1:p.Met239Ile, NP_001337952.1:p.Met275Ile, NP_001337954.1:p.Met239Ile, NP_001337955.1:p.Met239Ile, NP_001269952.1:p.Met247Ile

                    10.

                    rs1470480982 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      14:24237245 (GRCh38)
                      14:24706451 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:24237244:G:T
                      Gene:
                      GMPR2 (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000014.9:g.24237245G>T, NG_051059.1:g.141C>A, NG_054634.1:g.9829G>T, NM_016576.5:c.602G>T, NM_016576.4:c.602G>T, NM_016576.3:c.602G>T, NM_001002000.3:c.548G>T, NM_001002000.2:c.548G>T, NM_001002000.1:c.548G>T, NM_001002001.3:c.548G>T, NM_001002001.2:c.548G>T, NM_001002001.1:c.548G>T, NM_001002002.3:c.548G>T, NM_001002002.2:c.548G>T, NM_001002002.1:c.548G>T, NM_001283021.2:c.440G>T, NM_001283021.1:c.440G>T, NM_001283022.2:c.602G>T, NM_001283022.1:c.602G>T, NM_001351022.2:c.548G>T, NM_001351022.1:c.548G>T, NM_001351024.2:c.440G>T, NM_001351024.1:c.440G>T, NM_001351023.2:c.548G>T, NM_001351023.1:c.548G>T, NM_001351025.2:c.440G>T, NM_001351025.1:c.440G>T, NR_104265.2:n.833G>T, NR_104265.1:n.1033G>T, NM_001351026.2:c.440G>T, NM_001351026.1:c.440G>T, NM_001283023.2:c.464G>T, NM_001283023.1:c.464G>T, NW_018654722.1:g.538223G>T, NC_000014.8:g.24706451G>T, NP_057660.2:p.Gly201Val, NP_001002000.1:p.Gly183Val, NP_001002001.1:p.Gly183Val, NP_001002002.1:p.Gly183Val, NP_001269950.1:p.Gly147Val, NP_001269951.1:p.Gly201Val, NP_001337951.1:p.Gly183Val, NP_001337953.1:p.Gly147Val, NP_001337952.1:p.Gly183Val, NP_001337954.1:p.Gly147Val, NP_001337955.1:p.Gly147Val, NP_001269952.1:p.Gly155Val

                      11.

                      rs1468277037 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        14:24238269 (GRCh38)
                        14:24707475 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:24238268:C:T
                        Gene:
                        GMPR2 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000014.9:g.24238269C>T, NG_054634.1:g.10853C>T, NM_016576.5:c.775C>T, NM_016576.4:c.775C>T, NM_016576.3:c.775C>T, NM_001002000.3:c.721C>T, NM_001002000.2:c.721C>T, NM_001002000.1:c.721C>T, NM_001002001.3:c.721C>T, NM_001002001.2:c.721C>T, NM_001002001.1:c.721C>T, NM_001002002.3:c.721C>T, NM_001002002.2:c.721C>T, NM_001002002.1:c.721C>T, NM_001283021.2:c.613C>T, NM_001283021.1:c.613C>T, NM_001283022.2:c.775C>T, NM_001283022.1:c.775C>T, NM_001351022.2:c.721C>T, NM_001351022.1:c.721C>T, NM_001351024.2:c.613C>T, NM_001351024.1:c.613C>T, NM_001351023.2:c.721C>T, NM_001351023.1:c.721C>T, NM_001351025.2:c.613C>T, NM_001351025.1:c.613C>T, NR_104265.2:n.1006C>T, NR_104265.1:n.1206C>T, NM_001351026.2:c.613C>T, NM_001351026.1:c.613C>T, NM_001283023.2:c.637C>T, NM_001283023.1:c.637C>T, NG_016650.1:g.9406G>A, NW_018654722.1:g.539247C>T, NC_000014.8:g.24707475C>T

                        12.

                        rs1464701755 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:24238691 (GRCh38)
                          14:24707897 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:24238690:A:G
                          Gene:
                          GMPR2 (Varview)
                          Functional Consequence:
                          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000056/2 (ALFA)
                          G=0.000004/1 (GnomAD_exomes)
                          G=0.000014/2 (GnomAD)
                          G=0.00003/8 (TOPMED)
                          HGVS:
                          NC_000014.9:g.24238691A>G, NG_054634.1:g.11275A>G, NM_016576.5:c.1014A>G, NM_016576.4:c.1014A>G, NM_016576.3:c.1014A>G, NM_001002000.3:c.960A>G, NM_001002000.2:c.960A>G, NM_001002000.1:c.960A>G, NM_001002001.3:c.960A>G, NM_001002001.2:c.960A>G, NM_001002001.1:c.960A>G, NM_001002002.3:c.960A>G, NM_001002002.2:c.960A>G, NM_001002002.1:c.960A>G, NM_001283021.2:c.1035A>G, NM_001283021.1:c.1035A>G, NM_001283022.2:c.1197A>G, NM_001283022.1:c.1197A>G, NM_001351022.2:c.1143A>G, NM_001351022.1:c.1143A>G, NM_001351024.2:c.852A>G, NM_001351024.1:c.852A>G, NM_001351023.2:c.1143A>G, NM_001351023.1:c.1143A>G, NM_001351025.2:c.852A>G, NM_001351025.1:c.852A>G, NR_104265.2:n.1245A>G, NR_104265.1:n.1445A>G, NM_001351026.2:c.852A>G, NM_001351026.1:c.852A>G, NM_001283023.2:c.876A>G, NM_001283023.1:c.876A>G, NG_016650.1:g.8984T>C, NW_018654722.1:g.539669A>G, NC_000014.8:g.24707897A>G

                          13.

                          rs1461757261 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            14:24236099 (GRCh38)
                            14:24705305 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:24236098:G:C
                            Gene:
                            GMPR2 (Varview)
                            Functional Consequence:
                            missense_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000014.9:g.24236099G>C, NG_051059.1:g.1287C>G, NG_054634.1:g.8683G>C, NM_016576.5:c.478G>C, NM_016576.4:c.478G>C, NM_016576.3:c.478G>C, NM_001002000.3:c.424G>C, NM_001002000.2:c.424G>C, NM_001002000.1:c.424G>C, NM_001002001.3:c.424G>C, NM_001002001.2:c.424G>C, NM_001002001.1:c.424G>C, NM_001002002.3:c.424G>C, NM_001002002.2:c.424G>C, NM_001002002.1:c.424G>C, NM_001283021.2:c.316G>C, NM_001283021.1:c.316G>C, NM_001283022.2:c.478G>C, NM_001283022.1:c.478G>C, NM_001351022.2:c.424G>C, NM_001351022.1:c.424G>C, NM_001351024.2:c.316G>C, NM_001351024.1:c.316G>C, NM_001351023.2:c.424G>C, NM_001351023.1:c.424G>C, NM_001351025.2:c.316G>C, NM_001351025.1:c.316G>C, NR_104265.2:n.680G>C, NR_104265.1:n.880G>C, NM_001351026.2:c.316G>C, NM_001351026.1:c.316G>C, NM_001283023.2:c.340G>C, NM_001283023.1:c.340G>C, NW_018654722.1:g.537077G>C, NC_000014.8:g.24705305G>C, NP_057660.2:p.Val160Leu, NP_001002000.1:p.Val142Leu, NP_001002001.1:p.Val142Leu, NP_001002002.1:p.Val142Leu, NP_001269950.1:p.Val106Leu, NP_001269951.1:p.Val160Leu, NP_001337951.1:p.Val142Leu, NP_001337953.1:p.Val106Leu, NP_001337952.1:p.Val142Leu, NP_001337954.1:p.Val106Leu, NP_001337955.1:p.Val106Leu, NP_001269952.1:p.Val114Leu

                            14.

                            rs1459585168 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>T [Show Flanks]
                              Chromosome:
                              14:24238356 (GRCh38)
                              14:24707562 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:24238355:A:T
                              Gene:
                              GMPR2 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000014.9:g.24238356A>T, NG_054634.1:g.10940A>T, NM_016576.5:c.862A>T, NM_016576.4:c.862A>T, NM_016576.3:c.862A>T, NM_001002000.3:c.808A>T, NM_001002000.2:c.808A>T, NM_001002000.1:c.808A>T, NM_001002001.3:c.808A>T, NM_001002001.2:c.808A>T, NM_001002001.1:c.808A>T, NM_001002002.3:c.808A>T, NM_001002002.2:c.808A>T, NM_001002002.1:c.808A>T, NM_001283021.2:c.700A>T, NM_001283021.1:c.700A>T, NM_001283022.2:c.862A>T, NM_001283022.1:c.862A>T, NM_001351022.2:c.808A>T, NM_001351022.1:c.808A>T, NM_001351024.2:c.700A>T, NM_001351024.1:c.700A>T, NM_001351023.2:c.808A>T, NM_001351023.1:c.808A>T, NM_001351025.2:c.700A>T, NM_001351025.1:c.700A>T, NR_104265.2:n.1093A>T, NR_104265.1:n.1293A>T, NM_001351026.2:c.700A>T, NM_001351026.1:c.700A>T, NM_001283023.2:c.724A>T, NM_001283023.1:c.724A>T, NG_016650.1:g.9319T>A, NW_018654722.1:g.539334A>T, NC_000014.8:g.24707562A>T, NP_057660.2:p.Ser288Cys, NP_001002000.1:p.Ser270Cys, NP_001002001.1:p.Ser270Cys, NP_001002002.1:p.Ser270Cys, NP_001269950.1:p.Ser234Cys, NP_001269951.1:p.Ser288Cys, NP_001337951.1:p.Ser270Cys, NP_001337953.1:p.Ser234Cys, NP_001337952.1:p.Ser270Cys, NP_001337954.1:p.Ser234Cys, NP_001337955.1:p.Ser234Cys, NP_001269952.1:p.Ser242Cys

                              15.

                              rs1457710904 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:24238651 (GRCh38)
                                14:24707857 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:24238650:A:G
                                Gene:
                                GMPR2 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.24238651A>G, NG_054634.1:g.11235A>G, NM_016576.5:c.974A>G, NM_016576.4:c.974A>G, NM_016576.3:c.974A>G, NM_001002000.3:c.920A>G, NM_001002000.2:c.920A>G, NM_001002000.1:c.920A>G, NM_001002001.3:c.920A>G, NM_001002001.2:c.920A>G, NM_001002001.1:c.920A>G, NM_001002002.3:c.920A>G, NM_001002002.2:c.920A>G, NM_001002002.1:c.920A>G, NM_001283021.2:c.995A>G, NM_001283021.1:c.995A>G, NM_001283022.2:c.1157A>G, NM_001283022.1:c.1157A>G, NM_001351022.2:c.1103A>G, NM_001351022.1:c.1103A>G, NM_001351024.2:c.812A>G, NM_001351024.1:c.812A>G, NM_001351023.2:c.1103A>G, NM_001351023.1:c.1103A>G, NM_001351025.2:c.812A>G, NM_001351025.1:c.812A>G, NR_104265.2:n.1205A>G, NR_104265.1:n.1405A>G, NM_001351026.2:c.812A>G, NM_001351026.1:c.812A>G, NM_001283023.2:c.836A>G, NM_001283023.1:c.836A>G, NG_016650.1:g.9024T>C, NW_018654722.1:g.539629A>G, NC_000014.8:g.24707857A>G, NP_057660.2:p.Asp325Gly, NP_001002000.1:p.Asp307Gly, NP_001002001.1:p.Asp307Gly, NP_001002002.1:p.Asp307Gly, NP_001269950.1:p.Asp332Gly, NP_001269951.1:p.Asp386Gly, NP_001337951.1:p.Asp368Gly, NP_001337953.1:p.Asp271Gly, NP_001337952.1:p.Asp368Gly, NP_001337954.1:p.Asp271Gly, NP_001337955.1:p.Asp271Gly, NP_001269952.1:p.Asp279Gly

                                16.

                                rs1456112001 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  14:24238292 (GRCh38)
                                  14:24707498 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:24238291:C:T
                                  Gene:
                                  GMPR2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.24238292C>T, NG_054634.1:g.10876C>T, NM_016576.5:c.798C>T, NM_016576.4:c.798C>T, NM_016576.3:c.798C>T, NM_001002000.3:c.744C>T, NM_001002000.2:c.744C>T, NM_001002000.1:c.744C>T, NM_001002001.3:c.744C>T, NM_001002001.2:c.744C>T, NM_001002001.1:c.744C>T, NM_001002002.3:c.744C>T, NM_001002002.2:c.744C>T, NM_001002002.1:c.744C>T, NM_001283021.2:c.636C>T, NM_001283021.1:c.636C>T, NM_001283022.2:c.798C>T, NM_001283022.1:c.798C>T, NM_001351022.2:c.744C>T, NM_001351022.1:c.744C>T, NM_001351024.2:c.636C>T, NM_001351024.1:c.636C>T, NM_001351023.2:c.744C>T, NM_001351023.1:c.744C>T, NM_001351025.2:c.636C>T, NM_001351025.1:c.636C>T, NR_104265.2:n.1029C>T, NR_104265.1:n.1229C>T, NM_001351026.2:c.636C>T, NM_001351026.1:c.636C>T, NM_001283023.2:c.660C>T, NM_001283023.1:c.660C>T, NG_016650.1:g.9383G>A, NW_018654722.1:g.539270C>T, NC_000014.8:g.24707498C>T

                                  17.

                                  rs1455398135 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C,G [Show Flanks]
                                    Chromosome:
                                    14:24233488 (GRCh38)
                                    14:24702694 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:24233487:A:C,NC_000014.9:24233487:A:G
                                    Gene:
                                    NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000014.9:g.24233488A>C, NC_000014.9:g.24233488A>G, NG_051059.1:g.3898T>G, NG_051059.1:g.3898T>C, NG_054634.1:g.6072A>C, NG_054634.1:g.6072A>G, NM_016576.5:c.151A>C, NM_016576.5:c.151A>G, NM_016576.4:c.151A>C, NM_016576.4:c.151A>G, NM_016576.3:c.151A>C, NM_016576.3:c.151A>G, NM_001002000.3:c.97A>C, NM_001002000.3:c.97A>G, NM_001002000.2:c.97A>C, NM_001002000.2:c.97A>G, NM_001002000.1:c.97A>C, NM_001002000.1:c.97A>G, NM_001002001.3:c.97A>C, NM_001002001.3:c.97A>G, NM_001002001.2:c.97A>C, NM_001002001.2:c.97A>G, NM_001002001.1:c.97A>C, NM_001002001.1:c.97A>G, NM_001002002.3:c.97A>C, NM_001002002.3:c.97A>G, NM_001002002.2:c.97A>C, NM_001002002.2:c.97A>G, NM_001002002.1:c.97A>C, NM_001002002.1:c.97A>G, NM_001283021.2:c.-147A>C, NM_001283021.2:c.-147A>G, NM_001283021.1:c.-147A>C, NM_001283021.1:c.-147A>G, NM_001283022.2:c.151A>C, NM_001283022.2:c.151A>G, NM_001283022.1:c.151A>C, NM_001283022.1:c.151A>G, NM_001351022.2:c.97A>C, NM_001351022.2:c.97A>G, NM_001351022.1:c.97A>C, NM_001351022.1:c.97A>G, NM_001351024.2:c.-147A>C, NM_001351024.2:c.-147A>G, NM_001351024.1:c.-147A>C, NM_001351024.1:c.-147A>G, NM_001351023.2:c.97A>C, NM_001351023.2:c.97A>G, NM_001351023.1:c.97A>C, NM_001351023.1:c.97A>G, NM_001351025.2:c.-147A>C, NM_001351025.2:c.-147A>G, NM_001351025.1:c.-147A>C, NM_001351025.1:c.-147A>G, NR_104265.2:n.358A>C, NR_104265.2:n.358A>G, NR_104265.1:n.558A>C, NR_104265.1:n.558A>G, NM_001351026.2:c.-147A>C, NM_001351026.2:c.-147A>G, NM_001351026.1:c.-147A>C, NM_001351026.1:c.-147A>G, NM_001283023.2:c.97A>C, NM_001283023.2:c.97A>G, NM_001283023.1:c.97A>C, NM_001283023.1:c.97A>G, NW_018654722.1:g.534466A>C, NW_018654722.1:g.534466A>G, NC_000014.8:g.24702694A>C, NC_000014.8:g.24702694A>G, NP_057660.2:p.Thr51Pro, NP_057660.2:p.Thr51Ala, NP_001002000.1:p.Thr33Pro, NP_001002000.1:p.Thr33Ala, NP_001002001.1:p.Thr33Pro, NP_001002001.1:p.Thr33Ala, NP_001002002.1:p.Thr33Pro, NP_001002002.1:p.Thr33Ala, NP_001269951.1:p.Thr51Pro, NP_001269951.1:p.Thr51Ala, NP_001337951.1:p.Thr33Pro, NP_001337951.1:p.Thr33Ala, NP_001337952.1:p.Thr33Pro, NP_001337952.1:p.Thr33Ala, NP_001269952.1:p.Thr33Pro, NP_001269952.1:p.Thr33Ala

                                    18.

                                    rs1450738348 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      14:24233563 (GRCh38)
                                      14:24702769 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:24233562:G:A
                                      Gene:
                                      NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
                                      Functional Consequence:
                                      5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000014.9:g.24233563G>A, NG_051059.1:g.3823C>T, NG_054634.1:g.6147G>A, NM_016576.5:c.226G>A, NM_016576.4:c.226G>A, NM_016576.3:c.226G>A, NM_001002000.3:c.172G>A, NM_001002000.2:c.172G>A, NM_001002000.1:c.172G>A, NM_001002001.3:c.172G>A, NM_001002001.2:c.172G>A, NM_001002001.1:c.172G>A, NM_001002002.3:c.172G>A, NM_001002002.2:c.172G>A, NM_001002002.1:c.172G>A, NM_001283021.2:c.-72G>A, NM_001283021.1:c.-72G>A, NM_001283022.2:c.226G>A, NM_001283022.1:c.226G>A, NM_001351022.2:c.172G>A, NM_001351022.1:c.172G>A, NM_001351024.2:c.-72G>A, NM_001351024.1:c.-72G>A, NM_001351023.2:c.172G>A, NM_001351023.1:c.172G>A, NM_001351025.2:c.-72G>A, NM_001351025.1:c.-72G>A, NR_104265.2:n.433G>A, NR_104265.1:n.633G>A, NM_001351026.2:c.-72G>A, NM_001351026.1:c.-72G>A, NM_001283023.2:c.172G>A, NM_001283023.1:c.172G>A, NW_018654722.1:g.534541G>A, NC_000014.8:g.24702769G>A, NP_057660.2:p.Val76Met, NP_001002000.1:p.Val58Met, NP_001002001.1:p.Val58Met, NP_001002002.1:p.Val58Met, NP_001269951.1:p.Val76Met, NP_001337951.1:p.Val58Met, NP_001337952.1:p.Val58Met, NP_001269952.1:p.Val58Met

                                      19.

                                      rs1445534545 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        14:24233526 (GRCh38)
                                        14:24702732 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:24233525:C:T
                                        Gene:
                                        NEDD8 (Varview), GMPR2 (Varview), NEDD8-MDP1 (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.24233526C>T, NG_051059.1:g.3860G>A, NG_054634.1:g.6110C>T, NM_016576.5:c.189C>T, NM_016576.4:c.189C>T, NM_016576.3:c.189C>T, NM_001002000.3:c.135C>T, NM_001002000.2:c.135C>T, NM_001002000.1:c.135C>T, NM_001002001.3:c.135C>T, NM_001002001.2:c.135C>T, NM_001002001.1:c.135C>T, NM_001002002.3:c.135C>T, NM_001002002.2:c.135C>T, NM_001002002.1:c.135C>T, NM_001283021.2:c.-109C>T, NM_001283021.1:c.-109C>T, NM_001283022.2:c.189C>T, NM_001283022.1:c.189C>T, NM_001351022.2:c.135C>T, NM_001351022.1:c.135C>T, NM_001351024.2:c.-109C>T, NM_001351024.1:c.-109C>T, NM_001351023.2:c.135C>T, NM_001351023.1:c.135C>T, NM_001351025.2:c.-109C>T, NM_001351025.1:c.-109C>T, NR_104265.2:n.396C>T, NR_104265.1:n.596C>T, NM_001351026.2:c.-109C>T, NM_001351026.1:c.-109C>T, NM_001283023.2:c.135C>T, NM_001283023.1:c.135C>T, NW_018654722.1:g.534504C>T, NC_000014.8:g.24702732C>T

                                        20.

                                        rs1441336686 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          14:24235766 (GRCh38)
                                          14:24704972 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:24235765:C:T
                                          Gene:
                                          GMPR2 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000014.9:g.24235766C>T, NG_051059.1:g.1620G>A, NG_054634.1:g.8350C>T, NM_016576.5:c.291C>T, NM_016576.4:c.291C>T, NM_016576.3:c.291C>T, NM_001002000.3:c.237C>T, NM_001002000.2:c.237C>T, NM_001002000.1:c.237C>T, NM_001002001.3:c.237C>T, NM_001002001.2:c.237C>T, NM_001002001.1:c.237C>T, NM_001002002.3:c.237C>T, NM_001002002.2:c.237C>T, NM_001002002.1:c.237C>T, NM_001283021.2:c.129C>T, NM_001283021.1:c.129C>T, NM_001283022.2:c.291C>T, NM_001283022.1:c.291C>T, NM_001351022.2:c.237C>T, NM_001351022.1:c.237C>T, NM_001351024.2:c.129C>T, NM_001351024.1:c.129C>T, NM_001351023.2:c.237C>T, NM_001351023.1:c.237C>T, NM_001351025.2:c.129C>T, NM_001351025.1:c.129C>T, NR_104265.2:n.493C>T, NR_104265.1:n.693C>T, NM_001351026.2:c.129C>T, NM_001351026.1:c.129C>T, NW_018654722.1:g.536744C>T, NC_000014.8:g.24704972C>T

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