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Items: 1 to 20 of 509

1.

rs1490098178 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C,G [Show Flanks]
    Chromosome:
    21:42770779 (GRCh38)
    21:44190889 (GRCh37)
    Canonical SPDI:
    NC_000021.9:42770778:T:C,NC_000021.9:42770778:T:G
    Gene:
    PDE9A (Varview)
    Functional Consequence:
    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000012/3 (GnomAD_exomes)
    G=0.000057/15 (TOPMED)
    G=0.000057/8 (GnomAD)
    T=0.5/1 (SGDP_PRJ)
    HGVS:
    NC_000021.9:g.42770779T>C, NC_000021.9:g.42770779T>G, NC_000021.8:g.44190889T>C, NC_000021.8:g.44190889T>G, NG_047067.1:g.122028T>C, NG_047067.1:g.122028T>G, NM_002606.3:c.1667T>C, NM_002606.3:c.1667T>G, NM_002606.2:c.1667T>C, NM_002606.2:c.1667T>G, NM_001001584.3:c.1046T>C, NM_001001584.3:c.1046T>G, NM_001001584.2:c.1046T>C, NM_001001584.2:c.1046T>G, NM_001001582.2:c.1544T>C, NM_001001582.2:c.1544T>G, NM_001001582.1:c.1544T>C, NM_001001582.1:c.1544T>G, NM_001001583.2:c.1589T>C, NM_001001583.2:c.1589T>G, NM_001001583.1:c.1589T>C, NM_001001583.1:c.1589T>G, NM_001315533.2:c.1343T>C, NM_001315533.2:c.1343T>G, NM_001315533.1:c.1343T>C, NM_001315533.1:c.1343T>G, NM_001001585.2:c.1046T>C, NM_001001585.2:c.1046T>G, NM_001001585.1:c.1046T>C, NM_001001585.1:c.1046T>G, NM_001001581.2:c.1466T>C, NM_001001581.2:c.1466T>G, NM_001001581.1:c.1466T>C, NM_001001581.1:c.1466T>G, NM_001001570.2:c.1508T>C, NM_001001570.2:c.1508T>G, NM_001001570.1:c.1508T>C, NM_001001570.1:c.1508T>G, NM_001001567.2:c.1487T>C, NM_001001567.2:c.1487T>G, NM_001001567.1:c.1487T>C, NM_001001567.1:c.1487T>G, NM_001001573.2:c.1046T>C, NM_001001573.2:c.1046T>G, NM_001001573.1:c.1046T>C, NM_001001573.1:c.1046T>G, NM_001001571.2:c.1364T>C, NM_001001571.2:c.1364T>G, NM_001001571.1:c.1364T>C, NM_001001571.1:c.1364T>G, NM_001001574.2:c.1409T>C, NM_001001574.2:c.1409T>G, NM_001001574.1:c.1409T>C, NM_001001574.1:c.1409T>G, NM_001001578.2:c.1361T>C, NM_001001578.2:c.1361T>G, NM_001001578.1:c.1361T>C, NM_001001578.1:c.1361T>G, NM_001001579.2:c.1046T>C, NM_001001579.2:c.1046T>G, NM_001001579.1:c.1046T>C, NM_001001579.1:c.1046T>G, NM_001001568.2:c.1286T>C, NM_001001568.2:c.1286T>G, NM_001001568.1:c.1286T>C, NM_001001568.1:c.1286T>G, NM_001001577.2:c.1265T>C, NM_001001577.2:c.1265T>G, NM_001001577.1:c.1265T>C, NM_001001577.1:c.1265T>G, NM_001001572.2:c.1046T>C, NM_001001572.2:c.1046T>G, NM_001001572.1:c.1046T>C, NM_001001572.1:c.1046T>G, NM_001001569.2:c.1283T>C, NM_001001569.2:c.1283T>G, NM_001001569.1:c.1283T>C, NM_001001569.1:c.1283T>G, NM_001001575.2:c.1187T>C, NM_001001575.2:c.1187T>G, NM_001001575.1:c.1187T>C, NM_001001575.1:c.1187T>G, NM_001001576.2:c.1016T>C, NM_001001576.2:c.1016T>G, NM_001001576.1:c.1016T>C, NM_001001576.1:c.1016T>G, NM_001001580.2:c.1016T>C, NM_001001580.2:c.1016T>G, NM_001001580.1:c.1016T>C, NM_001001580.1:c.1016T>G, XM_011529598.3:c.1523T>C, XM_011529598.3:c.1523T>G, XM_011529598.2:c.1523T>C, XM_011529598.2:c.1523T>G, XM_011529598.1:c.1523T>C, XM_011529598.1:c.1523T>G, XM_017028366.2:c.1046T>C, XM_017028366.2:c.1046T>G, XM_017028366.1:c.1046T>C, XM_017028366.1:c.1046T>G, NP_002597.1:p.Ile556Thr, NP_002597.1:p.Ile556Arg, NP_001001584.1:p.Ile349Thr, NP_001001584.1:p.Ile349Arg, NP_001001582.1:p.Ile515Thr, NP_001001582.1:p.Ile515Arg, NP_001001583.1:p.Ile530Thr, NP_001001583.1:p.Ile530Arg, NP_001302462.1:p.Ile448Thr, NP_001302462.1:p.Ile448Arg, NP_001001585.1:p.Ile349Thr, NP_001001585.1:p.Ile349Arg, NP_001001581.1:p.Ile489Thr, NP_001001581.1:p.Ile489Arg, NP_001001570.1:p.Ile503Thr, NP_001001570.1:p.Ile503Arg, NP_001001567.1:p.Ile496Thr, NP_001001567.1:p.Ile496Arg, NP_001001573.1:p.Ile349Thr, NP_001001573.1:p.Ile349Arg, NP_001001571.1:p.Ile455Thr, NP_001001571.1:p.Ile455Arg, NP_001001574.1:p.Ile470Thr, NP_001001574.1:p.Ile470Arg, NP_001001578.1:p.Ile454Thr, NP_001001578.1:p.Ile454Arg, NP_001001579.1:p.Ile349Thr, NP_001001579.1:p.Ile349Arg, NP_001001568.1:p.Ile429Thr, NP_001001568.1:p.Ile429Arg, NP_001001577.1:p.Ile422Thr, NP_001001577.1:p.Ile422Arg, NP_001001572.1:p.Ile349Thr, NP_001001572.1:p.Ile349Arg, NP_001001569.1:p.Ile428Thr, NP_001001569.1:p.Ile428Arg, NP_001001575.1:p.Ile396Thr, NP_001001575.1:p.Ile396Arg, NP_001001576.1:p.Ile339Thr, NP_001001576.1:p.Ile339Arg, NP_001001580.1:p.Ile339Thr, NP_001001580.1:p.Ile339Arg, XP_011527900.1:p.Ile508Thr, XP_011527900.1:p.Ile508Arg, XP_016883855.1:p.Ile349Thr, XP_016883855.1:p.Ile349Arg

    2.

    rs1488866449 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      21:42769110 (GRCh38)
      21:44189220 (GRCh37)
      Canonical SPDI:
      NC_000021.9:42769109:G:T
      Gene:
      PDE9A (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000021.9:g.42769110G>T, NC_000021.8:g.44189220G>T, NG_047067.1:g.120359G>T, NM_002606.3:c.1545G>T, NM_002606.2:c.1545G>T, NM_001001584.3:c.924G>T, NM_001001584.2:c.924G>T, NM_001001582.2:c.1422G>T, NM_001001582.1:c.1422G>T, NM_001001583.2:c.1467G>T, NM_001001583.1:c.1467G>T, NM_001315533.2:c.1221G>T, NM_001315533.1:c.1221G>T, NM_001001585.2:c.924G>T, NM_001001585.1:c.924G>T, NM_001001581.2:c.1344G>T, NM_001001581.1:c.1344G>T, NM_001001570.2:c.1386G>T, NM_001001570.1:c.1386G>T, NM_001001567.2:c.1365G>T, NM_001001567.1:c.1365G>T, NM_001001573.2:c.924G>T, NM_001001573.1:c.924G>T, NM_001001571.2:c.1242G>T, NM_001001571.1:c.1242G>T, NM_001001574.2:c.1287G>T, NM_001001574.1:c.1287G>T, NM_001001578.2:c.1239G>T, NM_001001578.1:c.1239G>T, NM_001001579.2:c.924G>T, NM_001001579.1:c.924G>T, NM_001001568.2:c.1164G>T, NM_001001568.1:c.1164G>T, NM_001001577.2:c.1143G>T, NM_001001577.1:c.1143G>T, NM_001001572.2:c.924G>T, NM_001001572.1:c.924G>T, NM_001001569.2:c.1161G>T, NM_001001569.1:c.1161G>T, NM_001001575.2:c.1065G>T, NM_001001575.1:c.1065G>T, NM_001001576.2:c.894G>T, NM_001001576.1:c.894G>T, NM_001001580.2:c.894G>T, NM_001001580.1:c.894G>T, XM_011529598.3:c.1401G>T, XM_011529598.2:c.1401G>T, XM_011529598.1:c.1401G>T, XM_017028366.2:c.924G>T, XM_017028366.1:c.924G>T

      3.

      rs1484679105 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        21:42743815 (GRCh38)
        21:44163925 (GRCh37)
        Canonical SPDI:
        NC_000021.9:42743814:G:A
        Gene:
        PDE9A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_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_000021.9:g.42743815G>A, NC_000021.8:g.44163925G>A, NG_047067.1:g.95064G>A, NM_002606.3:c.608G>A, NM_002606.2:c.608G>A, NM_001001584.3:c.-14G>A, NM_001001584.2:c.-14G>A, NM_001001582.2:c.485G>A, NM_001001582.1:c.485G>A, NM_001001583.2:c.530G>A, NM_001001583.1:c.530G>A, NM_001315533.2:c.284G>A, NM_001315533.1:c.284G>A, NM_001001585.2:c.-14G>A, NM_001001585.1:c.-14G>A, NM_001001581.2:c.407G>A, NM_001001581.1:c.407G>A, NM_001001570.2:c.449G>A, NM_001001570.1:c.449G>A, NM_001001567.2:c.428G>A, NM_001001567.1:c.428G>A, NM_001001573.2:c.-14G>A, NM_001001573.1:c.-14G>A, NM_001001571.2:c.305G>A, NM_001001571.1:c.305G>A, NM_001001574.2:c.350G>A, NM_001001574.1:c.350G>A, NM_001001578.2:c.302G>A, NM_001001578.1:c.302G>A, NM_001001579.2:c.-14G>A, NM_001001579.1:c.-14G>A, NM_001001568.2:c.227G>A, NM_001001568.1:c.227G>A, NM_001001577.2:c.206G>A, NM_001001577.1:c.206G>A, NM_001001572.2:c.-14G>A, NM_001001572.1:c.-14G>A, NM_001001569.2:c.224G>A, NM_001001569.1:c.224G>A, NM_001001575.2:c.128G>A, NM_001001575.1:c.128G>A, XM_011529598.3:c.464G>A, XM_011529598.2:c.464G>A, XM_011529598.1:c.464G>A, XM_011529600.3:c.608G>A, XM_011529600.2:c.608G>A, XM_011529600.1:c.608G>A, XM_017028366.2:c.-14G>A, XM_017028366.1:c.-14G>A, NP_002597.1:p.Ser203Asn, NP_001001582.1:p.Ser162Asn, NP_001001583.1:p.Ser177Asn, NP_001302462.1:p.Ser95Asn, NP_001001581.1:p.Ser136Asn, NP_001001570.1:p.Ser150Asn, NP_001001567.1:p.Ser143Asn, NP_001001571.1:p.Ser102Asn, NP_001001574.1:p.Ser117Asn, NP_001001578.1:p.Ser101Asn, NP_001001568.1:p.Ser76Asn, NP_001001577.1:p.Ser69Asn, NP_001001569.1:p.Ser75Asn, NP_001001575.1:p.Ser43Asn, XP_011527900.1:p.Ser155Asn, XP_011527902.1:p.Ser203Asn

        4.

        rs1483235933 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          21:42769125 (GRCh38)
          21:44189235 (GRCh37)
          Canonical SPDI:
          NC_000021.9:42769124:C:T
          Gene:
          PDE9A (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000056/2 (ALFA)
          T=0.000008/2 (GnomAD_exomes)
          T=0.000014/2 (GnomAD)
          T=0.000026/7 (TOPMED)
          HGVS:
          NC_000021.9:g.42769125C>T, NC_000021.8:g.44189235C>T, NG_047067.1:g.120374C>T, NM_002606.3:c.1560C>T, NM_002606.2:c.1560C>T, NM_001001584.3:c.939C>T, NM_001001584.2:c.939C>T, NM_001001582.2:c.1437C>T, NM_001001582.1:c.1437C>T, NM_001001583.2:c.1482C>T, NM_001001583.1:c.1482C>T, NM_001315533.2:c.1236C>T, NM_001315533.1:c.1236C>T, NM_001001585.2:c.939C>T, NM_001001585.1:c.939C>T, NM_001001581.2:c.1359C>T, NM_001001581.1:c.1359C>T, NM_001001570.2:c.1401C>T, NM_001001570.1:c.1401C>T, NM_001001567.2:c.1380C>T, NM_001001567.1:c.1380C>T, NM_001001573.2:c.939C>T, NM_001001573.1:c.939C>T, NM_001001571.2:c.1257C>T, NM_001001571.1:c.1257C>T, NM_001001574.2:c.1302C>T, NM_001001574.1:c.1302C>T, NM_001001578.2:c.1254C>T, NM_001001578.1:c.1254C>T, NM_001001579.2:c.939C>T, NM_001001579.1:c.939C>T, NM_001001568.2:c.1179C>T, NM_001001568.1:c.1179C>T, NM_001001577.2:c.1158C>T, NM_001001577.1:c.1158C>T, NM_001001572.2:c.939C>T, NM_001001572.1:c.939C>T, NM_001001569.2:c.1176C>T, NM_001001569.1:c.1176C>T, NM_001001575.2:c.1080C>T, NM_001001575.1:c.1080C>T, NM_001001576.2:c.909C>T, NM_001001576.1:c.909C>T, NM_001001580.2:c.909C>T, NM_001001580.1:c.909C>T, XM_011529598.3:c.1416C>T, XM_011529598.2:c.1416C>T, XM_011529598.1:c.1416C>T, XM_017028366.2:c.939C>T, XM_017028366.1:c.939C>T

          5.

          rs1479272062 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            21:42743822 (GRCh38)
            21:44163932 (GRCh37)
            Canonical SPDI:
            NC_000021.9:42743821:T:G
            Gene:
            PDE9A (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0./0 (GnomAD)
            G=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000021.9:g.42743822T>G, NC_000021.8:g.44163932T>G, NG_047067.1:g.95071T>G, NM_002606.3:c.615T>G, NM_002606.2:c.615T>G, NM_001001584.3:c.-7T>G, NM_001001584.2:c.-7T>G, NM_001001582.2:c.492T>G, NM_001001582.1:c.492T>G, NM_001001583.2:c.537T>G, NM_001001583.1:c.537T>G, NM_001315533.2:c.291T>G, NM_001315533.1:c.291T>G, NM_001001585.2:c.-7T>G, NM_001001585.1:c.-7T>G, NM_001001581.2:c.414T>G, NM_001001581.1:c.414T>G, NM_001001570.2:c.456T>G, NM_001001570.1:c.456T>G, NM_001001567.2:c.435T>G, NM_001001567.1:c.435T>G, NM_001001573.2:c.-7T>G, NM_001001573.1:c.-7T>G, NM_001001571.2:c.312T>G, NM_001001571.1:c.312T>G, NM_001001574.2:c.357T>G, NM_001001574.1:c.357T>G, NM_001001578.2:c.309T>G, NM_001001578.1:c.309T>G, NM_001001579.2:c.-7T>G, NM_001001579.1:c.-7T>G, NM_001001568.2:c.234T>G, NM_001001568.1:c.234T>G, NM_001001577.2:c.213T>G, NM_001001577.1:c.213T>G, NM_001001572.2:c.-7T>G, NM_001001572.1:c.-7T>G, NM_001001569.2:c.231T>G, NM_001001569.1:c.231T>G, NM_001001575.2:c.135T>G, NM_001001575.1:c.135T>G, XM_011529598.3:c.471T>G, XM_011529598.2:c.471T>G, XM_011529598.1:c.471T>G, XM_011529600.3:c.615T>G, XM_011529600.2:c.615T>G, XM_011529600.1:c.615T>G, XM_017028366.2:c.-7T>G, XM_017028366.1:c.-7T>G, NP_002597.1:p.Ile205Met, NP_001001582.1:p.Ile164Met, NP_001001583.1:p.Ile179Met, NP_001302462.1:p.Ile97Met, NP_001001581.1:p.Ile138Met, NP_001001570.1:p.Ile152Met, NP_001001567.1:p.Ile145Met, NP_001001571.1:p.Ile104Met, NP_001001574.1:p.Ile119Met, NP_001001578.1:p.Ile103Met, NP_001001568.1:p.Ile78Met, NP_001001577.1:p.Ile71Met, NP_001001569.1:p.Ile77Met, NP_001001575.1:p.Ile45Met, XP_011527900.1:p.Ile157Met, XP_011527902.1:p.Ile205Met

            6.

            rs1478609728 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              21:42772481 (GRCh38)
              21:44192591 (GRCh37)
              Canonical SPDI:
              NC_000021.9:42772480:A:C
              Gene:
              PDE9A (Varview)
              Functional Consequence:
              missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000021.9:g.42772481A>C, NC_000021.8:g.44192591A>C, NG_047067.1:g.123730A>C, NM_002606.3:c.1729A>C, NM_002606.2:c.1729A>C, NM_001001584.3:c.1108A>C, NM_001001584.2:c.1108A>C, NM_001001582.2:c.1606A>C, NM_001001582.1:c.1606A>C, NM_001001583.2:c.1651A>C, NM_001001583.1:c.1651A>C, NM_001315533.2:c.1405A>C, NM_001315533.1:c.1405A>C, NM_001001585.2:c.1108A>C, NM_001001585.1:c.1108A>C, NM_001001581.2:c.1528A>C, NM_001001581.1:c.1528A>C, NM_001001570.2:c.1570A>C, NM_001001570.1:c.1570A>C, NM_001001567.2:c.1549A>C, NM_001001567.1:c.1549A>C, NM_001001573.2:c.1108A>C, NM_001001573.1:c.1108A>C, NM_001001571.2:c.1426A>C, NM_001001571.1:c.1426A>C, NM_001001574.2:c.1471A>C, NM_001001574.1:c.1471A>C, NM_001001578.2:c.1423A>C, NM_001001578.1:c.1423A>C, NM_001001579.2:c.1108A>C, NM_001001579.1:c.1108A>C, NM_001001568.2:c.1348A>C, NM_001001568.1:c.1348A>C, NM_001001577.2:c.1327A>C, NM_001001577.1:c.1327A>C, NM_001001572.2:c.1108A>C, NM_001001572.1:c.1108A>C, NM_001001569.2:c.1345A>C, NM_001001569.1:c.1345A>C, NM_001001575.2:c.1249A>C, NM_001001575.1:c.1249A>C, NM_001001576.2:c.1078A>C, NM_001001576.1:c.1078A>C, NM_001001580.2:c.1078A>C, NM_001001580.1:c.1078A>C, XM_011529598.3:c.1585A>C, XM_011529598.2:c.1585A>C, XM_011529598.1:c.1585A>C, XM_017028366.2:c.1108A>C, XM_017028366.1:c.1108A>C, NP_002597.1:p.Lys577Gln, NP_001001584.1:p.Lys370Gln, NP_001001582.1:p.Lys536Gln, NP_001001583.1:p.Lys551Gln, NP_001302462.1:p.Lys469Gln, NP_001001585.1:p.Lys370Gln, NP_001001581.1:p.Lys510Gln, NP_001001570.1:p.Lys524Gln, NP_001001567.1:p.Lys517Gln, NP_001001573.1:p.Lys370Gln, NP_001001571.1:p.Lys476Gln, NP_001001574.1:p.Lys491Gln, NP_001001578.1:p.Lys475Gln, NP_001001579.1:p.Lys370Gln, NP_001001568.1:p.Lys450Gln, NP_001001577.1:p.Lys443Gln, NP_001001572.1:p.Lys370Gln, NP_001001569.1:p.Lys449Gln, NP_001001575.1:p.Lys417Gln, NP_001001576.1:p.Lys360Gln, NP_001001580.1:p.Lys360Gln, XP_011527900.1:p.Lys529Gln, XP_016883855.1:p.Lys370Gln

              7.

              rs1476017800 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                21:42751155 (GRCh38)
                21:44171265 (GRCh37)
                Canonical SPDI:
                NC_000021.9:42751154:C:T
                Gene:
                PDE9A (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000008/2 (TOPMED)
                HGVS:
                NC_000021.9:g.42751155C>T, NC_000021.8:g.44171265C>T, NG_047067.1:g.102404C>T, NM_002606.3:c.693C>T, NM_002606.2:c.693C>T, NM_001001584.3:c.72C>T, NM_001001584.2:c.72C>T, NM_001001582.2:c.570C>T, NM_001001582.1:c.570C>T, NM_001001583.2:c.615C>T, NM_001001583.1:c.615C>T, NM_001315533.2:c.369C>T, NM_001315533.1:c.369C>T, NM_001001585.2:c.72C>T, NM_001001585.1:c.72C>T, NM_001001581.2:c.492C>T, NM_001001581.1:c.492C>T, NM_001001570.2:c.534C>T, NM_001001570.1:c.534C>T, NM_001001567.2:c.513C>T, NM_001001567.1:c.513C>T, NM_001001573.2:c.72C>T, NM_001001573.1:c.72C>T, NM_001001571.2:c.390C>T, NM_001001571.1:c.390C>T, NM_001001574.2:c.435C>T, NM_001001574.1:c.435C>T, NM_001001578.2:c.387C>T, NM_001001578.1:c.387C>T, NM_001001579.2:c.72C>T, NM_001001579.1:c.72C>T, NM_001001568.2:c.312C>T, NM_001001568.1:c.312C>T, NM_001001577.2:c.291C>T, NM_001001577.1:c.291C>T, NM_001001572.2:c.72C>T, NM_001001572.1:c.72C>T, NM_001001569.2:c.309C>T, NM_001001569.1:c.309C>T, NM_001001575.2:c.213C>T, NM_001001575.1:c.213C>T, NM_001001576.2:c.42C>T, NM_001001576.1:c.42C>T, NM_001001580.2:c.42C>T, NM_001001580.1:c.42C>T, XM_011529598.3:c.549C>T, XM_011529598.2:c.549C>T, XM_011529598.1:c.549C>T, XM_011529600.3:c.693C>T, XM_011529600.2:c.693C>T, XM_011529600.1:c.693C>T, XM_017028366.2:c.72C>T, XM_017028366.1:c.72C>T

                8.

                rs1475567107 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  21:42760397 (GRCh38)
                  21:44180507 (GRCh37)
                  Canonical SPDI:
                  NC_000021.9:42760396:A:G
                  Gene:
                  PDE9A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000021.9:g.42760397A>G, NC_000021.8:g.44180507A>G, NG_047067.1:g.111646A>G, NM_002606.3:c.967A>G, NM_002606.2:c.967A>G, NM_001001584.3:c.346A>G, NM_001001584.2:c.346A>G, NM_001001582.2:c.844A>G, NM_001001582.1:c.844A>G, NM_001001583.2:c.889A>G, NM_001001583.1:c.889A>G, NM_001315533.2:c.643A>G, NM_001315533.1:c.643A>G, NM_001001585.2:c.346A>G, NM_001001585.1:c.346A>G, NM_001001581.2:c.766A>G, NM_001001581.1:c.766A>G, NM_001001570.2:c.808A>G, NM_001001570.1:c.808A>G, NM_001001567.2:c.787A>G, NM_001001567.1:c.787A>G, NM_001001573.2:c.346A>G, NM_001001573.1:c.346A>G, NM_001001571.2:c.664A>G, NM_001001571.1:c.664A>G, NM_001001574.2:c.709A>G, NM_001001574.1:c.709A>G, NM_001001578.2:c.661A>G, NM_001001578.1:c.661A>G, NM_001001579.2:c.346A>G, NM_001001579.1:c.346A>G, NM_001001568.2:c.586A>G, NM_001001568.1:c.586A>G, NM_001001577.2:c.565A>G, NM_001001577.1:c.565A>G, NM_001001572.2:c.346A>G, NM_001001572.1:c.346A>G, NM_001001569.2:c.583A>G, NM_001001569.1:c.583A>G, NM_001001575.2:c.487A>G, NM_001001575.1:c.487A>G, NM_001001576.2:c.316A>G, NM_001001576.1:c.316A>G, NM_001001580.2:c.316A>G, NM_001001580.1:c.316A>G, XM_011529598.3:c.823A>G, XM_011529598.2:c.823A>G, XM_011529598.1:c.823A>G, XM_011529600.3:c.967A>G, XM_011529600.2:c.967A>G, XM_011529600.1:c.967A>G, XM_017028366.2:c.346A>G, XM_017028366.1:c.346A>G, NP_002597.1:p.Met323Val, NP_001001584.1:p.Met116Val, NP_001001582.1:p.Met282Val, NP_001001583.1:p.Met297Val, NP_001302462.1:p.Met215Val, NP_001001585.1:p.Met116Val, NP_001001581.1:p.Met256Val, NP_001001570.1:p.Met270Val, NP_001001567.1:p.Met263Val, NP_001001573.1:p.Met116Val, NP_001001571.1:p.Met222Val, NP_001001574.1:p.Met237Val, NP_001001578.1:p.Met221Val, NP_001001579.1:p.Met116Val, NP_001001568.1:p.Met196Val, NP_001001577.1:p.Met189Val, NP_001001572.1:p.Met116Val, NP_001001569.1:p.Met195Val, NP_001001575.1:p.Met163Val, NP_001001576.1:p.Met106Val, NP_001001580.1:p.Met106Val, XP_011527900.1:p.Met275Val, XP_011527902.1:p.Met323Val, XP_016883855.1:p.Met116Val

                  9.

                  rs1475090835 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    21:42759041 (GRCh38)
                    21:44179151 (GRCh37)
                    Canonical SPDI:
                    NC_000021.9:42759040:G:A
                    Gene:
                    PDE9A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000021.9:g.42759041G>A, NC_000021.8:g.44179151G>A, NG_047067.1:g.110290G>A, NM_002606.3:c.853G>A, NM_002606.2:c.853G>A, NM_001001584.3:c.232G>A, NM_001001584.2:c.232G>A, NM_001001582.2:c.730G>A, NM_001001582.1:c.730G>A, NM_001001583.2:c.775G>A, NM_001001583.1:c.775G>A, NM_001315533.2:c.529G>A, NM_001315533.1:c.529G>A, NM_001001585.2:c.232G>A, NM_001001585.1:c.232G>A, NM_001001581.2:c.652G>A, NM_001001581.1:c.652G>A, NM_001001570.2:c.694G>A, NM_001001570.1:c.694G>A, NM_001001567.2:c.673G>A, NM_001001567.1:c.673G>A, NM_001001573.2:c.232G>A, NM_001001573.1:c.232G>A, NM_001001571.2:c.550G>A, NM_001001571.1:c.550G>A, NM_001001574.2:c.595G>A, NM_001001574.1:c.595G>A, NM_001001578.2:c.547G>A, NM_001001578.1:c.547G>A, NM_001001579.2:c.232G>A, NM_001001579.1:c.232G>A, NM_001001568.2:c.472G>A, NM_001001568.1:c.472G>A, NM_001001577.2:c.451G>A, NM_001001577.1:c.451G>A, NM_001001572.2:c.232G>A, NM_001001572.1:c.232G>A, NM_001001569.2:c.469G>A, NM_001001569.1:c.469G>A, NM_001001575.2:c.373G>A, NM_001001575.1:c.373G>A, NM_001001576.2:c.202G>A, NM_001001576.1:c.202G>A, NM_001001580.2:c.202G>A, NM_001001580.1:c.202G>A, XM_011529598.3:c.709G>A, XM_011529598.2:c.709G>A, XM_011529598.1:c.709G>A, XM_011529600.3:c.853G>A, XM_011529600.2:c.853G>A, XM_011529600.1:c.853G>A, XM_017028366.2:c.232G>A, XM_017028366.1:c.232G>A, NP_002597.1:p.Val285Ile, NP_001001584.1:p.Val78Ile, NP_001001582.1:p.Val244Ile, NP_001001583.1:p.Val259Ile, NP_001302462.1:p.Val177Ile, NP_001001585.1:p.Val78Ile, NP_001001581.1:p.Val218Ile, NP_001001570.1:p.Val232Ile, NP_001001567.1:p.Val225Ile, NP_001001573.1:p.Val78Ile, NP_001001571.1:p.Val184Ile, NP_001001574.1:p.Val199Ile, NP_001001578.1:p.Val183Ile, NP_001001579.1:p.Val78Ile, NP_001001568.1:p.Val158Ile, NP_001001577.1:p.Val151Ile, NP_001001572.1:p.Val78Ile, NP_001001569.1:p.Val157Ile, NP_001001575.1:p.Val125Ile, NP_001001576.1:p.Val68Ile, NP_001001580.1:p.Val68Ile, XP_011527900.1:p.Val237Ile, XP_011527902.1:p.Val285Ile, XP_016883855.1:p.Val78Ile

                    10.

                    rs1470884919 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      21:42760891 (GRCh38)
                      21:44181001 (GRCh37)
                      Canonical SPDI:
                      NC_000021.9:42760890:CCC:CC
                      Gene:
                      PDE9A (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000021.9:g.42760893del, NC_000021.8:g.44181003del, NG_047067.1:g.112142del, NM_002606.3:c.1071del, NM_002606.2:c.1071del, NM_001001584.3:c.450del, NM_001001584.2:c.450del, NM_001001582.2:c.948del, NM_001001582.1:c.948del, NM_001001583.2:c.993del, NM_001001583.1:c.993del, NM_001315533.2:c.747del, NM_001315533.1:c.747del, NM_001001585.2:c.450del, NM_001001585.1:c.450del, NM_001001581.2:c.870del, NM_001001581.1:c.870del, NM_001001570.2:c.912del, NM_001001570.1:c.912del, NM_001001567.2:c.891del, NM_001001567.1:c.891del, NM_001001573.2:c.450del, NM_001001573.1:c.450del, NM_001001571.2:c.768del, NM_001001571.1:c.768del, NM_001001574.2:c.813del, NM_001001574.1:c.813del, NM_001001578.2:c.765del, NM_001001578.1:c.765del, NM_001001579.2:c.450del, NM_001001579.1:c.450del, NM_001001568.2:c.690del, NM_001001568.1:c.690del, NM_001001577.2:c.669del, NM_001001577.1:c.669del, NM_001001572.2:c.450del, NM_001001572.1:c.450del, NM_001001569.2:c.687del, NM_001001569.1:c.687del, NM_001001575.2:c.591del, NM_001001575.1:c.591del, NM_001001576.2:c.420del, NM_001001576.1:c.420del, NM_001001580.2:c.420del, NM_001001580.1:c.420del, XM_011529598.3:c.927del, XM_011529598.2:c.927del, XM_011529598.1:c.927del, XM_011529600.3:c.1071del, XM_011529600.2:c.1071del, XM_011529600.1:c.1071del, XM_017028366.2:c.450del, XM_017028366.1:c.450del, NP_002597.1:p.Gly358fs, NP_001001584.1:p.Gly151fs, NP_001001582.1:p.Gly317fs, NP_001001583.1:p.Gly332fs, NP_001302462.1:p.Gly250fs, NP_001001585.1:p.Gly151fs, NP_001001581.1:p.Gly291fs, NP_001001570.1:p.Gly305fs, NP_001001567.1:p.Gly298fs, NP_001001573.1:p.Gly151fs, NP_001001571.1:p.Gly257fs, NP_001001574.1:p.Gly272fs, NP_001001578.1:p.Gly256fs, NP_001001579.1:p.Gly151fs, NP_001001568.1:p.Gly231fs, NP_001001577.1:p.Gly224fs, NP_001001572.1:p.Gly151fs, NP_001001569.1:p.Gly230fs, NP_001001575.1:p.Gly198fs, NP_001001576.1:p.Gly141fs, NP_001001580.1:p.Gly141fs, XP_011527900.1:p.Gly310fs, XP_011527902.1:p.Gly358fs, XP_016883855.1:p.Gly151fs

                      11.

                      rs1468906529 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        21:42754060 (GRCh38)
                        21:44174170 (GRCh37)
                        Canonical SPDI:
                        NC_000021.9:42754059:A:G
                        Gene:
                        PDE9A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000031/1 (ALFA)
                        G=0.000019/5 (TOPMED)
                        G=0.00002/5 (GnomAD_exomes)
                        G=0.000021/3 (GnomAD)
                        G=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000021.9:g.42754060A>G, NC_000021.8:g.44174170A>G, NG_047067.1:g.105309A>G, NM_002606.3:c.806A>G, NM_002606.2:c.806A>G, NM_001001584.3:c.185A>G, NM_001001584.2:c.185A>G, NM_001001582.2:c.683A>G, NM_001001582.1:c.683A>G, NM_001001583.2:c.728A>G, NM_001001583.1:c.728A>G, NM_001315533.2:c.482A>G, NM_001315533.1:c.482A>G, NM_001001585.2:c.185A>G, NM_001001585.1:c.185A>G, NM_001001581.2:c.605A>G, NM_001001581.1:c.605A>G, NM_001001570.2:c.647A>G, NM_001001570.1:c.647A>G, NM_001001567.2:c.626A>G, NM_001001567.1:c.626A>G, NM_001001573.2:c.185A>G, NM_001001573.1:c.185A>G, NM_001001571.2:c.503A>G, NM_001001571.1:c.503A>G, NM_001001574.2:c.548A>G, NM_001001574.1:c.548A>G, NM_001001578.2:c.500A>G, NM_001001578.1:c.500A>G, NM_001001579.2:c.185A>G, NM_001001579.1:c.185A>G, NM_001001568.2:c.425A>G, NM_001001568.1:c.425A>G, NM_001001577.2:c.404A>G, NM_001001577.1:c.404A>G, NM_001001572.2:c.185A>G, NM_001001572.1:c.185A>G, NM_001001569.2:c.422A>G, NM_001001569.1:c.422A>G, NM_001001575.2:c.326A>G, NM_001001575.1:c.326A>G, NM_001001576.2:c.155A>G, NM_001001576.1:c.155A>G, NM_001001580.2:c.155A>G, NM_001001580.1:c.155A>G, XM_011529598.3:c.662A>G, XM_011529598.2:c.662A>G, XM_011529598.1:c.662A>G, XM_011529600.3:c.806A>G, XM_011529600.2:c.806A>G, XM_011529600.1:c.806A>G, XM_017028366.2:c.185A>G, XM_017028366.1:c.185A>G, NP_002597.1:p.Asn269Ser, NP_001001584.1:p.Asn62Ser, NP_001001582.1:p.Asn228Ser, NP_001001583.1:p.Asn243Ser, NP_001302462.1:p.Asn161Ser, NP_001001585.1:p.Asn62Ser, NP_001001581.1:p.Asn202Ser, NP_001001570.1:p.Asn216Ser, NP_001001567.1:p.Asn209Ser, NP_001001573.1:p.Asn62Ser, NP_001001571.1:p.Asn168Ser, NP_001001574.1:p.Asn183Ser, NP_001001578.1:p.Asn167Ser, NP_001001579.1:p.Asn62Ser, NP_001001568.1:p.Asn142Ser, NP_001001577.1:p.Asn135Ser, NP_001001572.1:p.Asn62Ser, NP_001001569.1:p.Asn141Ser, NP_001001575.1:p.Asn109Ser, NP_001001576.1:p.Asn52Ser, NP_001001580.1:p.Asn52Ser, XP_011527900.1:p.Asn221Ser, XP_011527902.1:p.Asn269Ser, XP_016883855.1:p.Asn62Ser

                        12.

                        rs1467723820 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          21:42653872 (GRCh38)
                          21:44073982 (GRCh37)
                          Canonical SPDI:
                          NC_000021.9:42653871:C:A,NC_000021.9:42653871:C:T
                          Gene:
                          PDE9A (Varview), LOC101928255 (Varview)
                          Functional Consequence:
                          missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.00007/1 (ALFA)
                          HGVS:
                          NC_000021.9:g.42653872C>A, NC_000021.9:g.42653872C>T, NC_000021.8:g.44073982C>A, NC_000021.8:g.44073982C>T, NG_047067.1:g.5121C>A, NG_047067.1:g.5121C>T, NM_002606.3:c.58C>A, NM_002606.3:c.58C>T, NM_002606.2:c.58C>A, NM_002606.2:c.58C>T, NM_001001584.3:c.-314C>A, NM_001001584.3:c.-314C>T, NM_001001584.2:c.-314C>A, NM_001001584.2:c.-314C>T, NM_001001582.2:c.6C>A, NM_001001582.2:c.6C>T, NM_001001582.1:c.6C>A, NM_001001582.1:c.6C>T, NM_001001583.2:c.58C>A, NM_001001583.2:c.58C>T, NM_001001583.1:c.58C>A, NM_001001583.1:c.58C>T, NM_001315533.2:c.-163C>A, NM_001315533.2:c.-163C>T, NM_001315533.1:c.-163C>A, NM_001315533.1:c.-163C>T, NM_001001585.2:c.-438C>A, NM_001001585.2:c.-438C>T, NM_001001585.1:c.-438C>A, NM_001001585.1:c.-438C>T, NM_001001581.2:c.6C>A, NM_001001581.2:c.6C>T, NM_001001581.1:c.6C>A, NM_001001581.1:c.6C>T, NM_001001570.2:c.58C>A, NM_001001570.2:c.58C>T, NM_001001570.1:c.58C>A, NM_001001570.1:c.58C>T, NM_001001567.2:c.58C>A, NM_001001567.2:c.58C>T, NM_001001567.1:c.58C>A, NM_001001567.1:c.58C>T, NM_001001573.2:c.-371C>A, NM_001001573.2:c.-371C>T, NM_001001573.1:c.-371C>A, NM_001001573.1:c.-371C>T, NM_001001571.2:c.6C>A, NM_001001571.2:c.6C>T, NM_001001571.1:c.6C>A, NM_001001571.1:c.6C>T, NM_001001574.2:c.58C>A, NM_001001574.2:c.58C>T, NM_001001574.1:c.58C>A, NM_001001574.1:c.58C>T, NM_001001578.2:c.58C>A, NM_001001578.2:c.58C>T, NM_001001578.1:c.58C>A, NM_001001578.1:c.58C>T, NM_001001579.2:c.-251C>A, NM_001001579.2:c.-251C>T, NM_001001579.1:c.-251C>A, NM_001001579.1:c.-251C>T, NM_001001568.2:c.6C>A, NM_001001568.2:c.6C>T, NM_001001568.1:c.6C>A, NM_001001568.1:c.6C>T, NM_001001577.2:c.6C>A, NM_001001577.2:c.6C>T, NM_001001577.1:c.6C>A, NM_001001577.1:c.6C>T, NM_001001572.2:c.-191C>A, NM_001001572.2:c.-191C>T, NM_001001572.1:c.-191C>A, NM_001001572.1:c.-191C>T, NM_001001569.2:c.58C>A, NM_001001569.2:c.58C>T, NM_001001569.1:c.58C>A, NM_001001569.1:c.58C>T, NM_001001575.2:c.6C>A, NM_001001575.2:c.6C>T, NM_001001575.1:c.6C>A, NM_001001575.1:c.6C>T, NM_001001576.2:c.-125C>A, NM_001001576.2:c.-125C>T, NM_001001576.1:c.-125C>A, NM_001001576.1:c.-125C>T, NM_001001580.2:c.-81C>A, NM_001001580.2:c.-81C>T, NM_001001580.1:c.-81C>A, NM_001001580.1:c.-81C>T, XM_011529600.3:c.58C>A, XM_011529600.3:c.58C>T, XM_011529600.2:c.58C>A, XM_011529600.2:c.58C>T, XM_011529600.1:c.58C>A, XM_011529600.1:c.58C>T, XM_017028366.2:c.-329C>A, XM_017028366.2:c.-329C>T, XM_017028366.1:c.-329C>A, XM_017028366.1:c.-329C>T, NP_002597.1:p.Arg20Ser, NP_002597.1:p.Arg20Cys, NP_001001582.1:p.Asp2Glu, NP_001001583.1:p.Arg20Ser, NP_001001583.1:p.Arg20Cys, NP_001001581.1:p.Asp2Glu, NP_001001570.1:p.Arg20Ser, NP_001001570.1:p.Arg20Cys, NP_001001567.1:p.Arg20Ser, NP_001001567.1:p.Arg20Cys, NP_001001571.1:p.Asp2Glu, NP_001001574.1:p.Arg20Ser, NP_001001574.1:p.Arg20Cys, NP_001001578.1:p.Arg20Ser, NP_001001578.1:p.Arg20Cys, NP_001001568.1:p.Asp2Glu, NP_001001577.1:p.Asp2Glu, NP_001001569.1:p.Arg20Ser, NP_001001569.1:p.Arg20Cys, NP_001001575.1:p.Asp2Glu, XP_011527902.1:p.Arg20Ser, XP_011527902.1:p.Arg20Cys

                          13.

                          rs1467367591 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            21:42731906 (GRCh38)
                            21:44152016 (GRCh37)
                            Canonical SPDI:
                            NC_000021.9:42731905:A:G
                            Gene:
                            PDE9A (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            G=0.000014/2 (GnomAD)
                            HGVS:

                            14.

                            rs1464597959 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              21:42754018 (GRCh38)
                              21:44174128 (GRCh37)
                              Canonical SPDI:
                              NC_000021.9:42754017:C:T
                              Gene:
                              PDE9A (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000021.9:g.42754018C>T, NC_000021.8:g.44174128C>T, NG_047067.1:g.105267C>T, NM_002606.3:c.764C>T, NM_002606.2:c.764C>T, NM_001001584.3:c.143C>T, NM_001001584.2:c.143C>T, NM_001001582.2:c.641C>T, NM_001001582.1:c.641C>T, NM_001001583.2:c.686C>T, NM_001001583.1:c.686C>T, NM_001315533.2:c.440C>T, NM_001315533.1:c.440C>T, NM_001001585.2:c.143C>T, NM_001001585.1:c.143C>T, NM_001001581.2:c.563C>T, NM_001001581.1:c.563C>T, NM_001001570.2:c.605C>T, NM_001001570.1:c.605C>T, NM_001001567.2:c.584C>T, NM_001001567.1:c.584C>T, NM_001001573.2:c.143C>T, NM_001001573.1:c.143C>T, NM_001001571.2:c.461C>T, NM_001001571.1:c.461C>T, NM_001001574.2:c.506C>T, NM_001001574.1:c.506C>T, NM_001001578.2:c.458C>T, NM_001001578.1:c.458C>T, NM_001001579.2:c.143C>T, NM_001001579.1:c.143C>T, NM_001001568.2:c.383C>T, NM_001001568.1:c.383C>T, NM_001001577.2:c.362C>T, NM_001001577.1:c.362C>T, NM_001001572.2:c.143C>T, NM_001001572.1:c.143C>T, NM_001001569.2:c.380C>T, NM_001001569.1:c.380C>T, NM_001001575.2:c.284C>T, NM_001001575.1:c.284C>T, NM_001001576.2:c.113C>T, NM_001001576.1:c.113C>T, NM_001001580.2:c.113C>T, NM_001001580.1:c.113C>T, XM_011529598.3:c.620C>T, XM_011529598.2:c.620C>T, XM_011529598.1:c.620C>T, XM_011529600.3:c.764C>T, XM_011529600.2:c.764C>T, XM_011529600.1:c.764C>T, XM_017028366.2:c.143C>T, XM_017028366.1:c.143C>T, NP_002597.1:p.Ala255Val, NP_001001584.1:p.Ala48Val, NP_001001582.1:p.Ala214Val, NP_001001583.1:p.Ala229Val, NP_001302462.1:p.Ala147Val, NP_001001585.1:p.Ala48Val, NP_001001581.1:p.Ala188Val, NP_001001570.1:p.Ala202Val, NP_001001567.1:p.Ala195Val, NP_001001573.1:p.Ala48Val, NP_001001571.1:p.Ala154Val, NP_001001574.1:p.Ala169Val, NP_001001578.1:p.Ala153Val, NP_001001579.1:p.Ala48Val, NP_001001568.1:p.Ala128Val, NP_001001577.1:p.Ala121Val, NP_001001572.1:p.Ala48Val, NP_001001569.1:p.Ala127Val, NP_001001575.1:p.Ala95Val, NP_001001576.1:p.Ala38Val, NP_001001580.1:p.Ala38Val, XP_011527900.1:p.Ala207Val, XP_011527902.1:p.Ala255Val, XP_016883855.1:p.Ala48Val

                              15.

                              rs1463849765 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                21:42760895 (GRCh38)
                                21:44181005 (GRCh37)
                                Canonical SPDI:
                                NC_000021.9:42760894:G:A
                                Gene:
                                PDE9A (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                HGVS:
                                NC_000021.9:g.42760895G>A, NC_000021.8:g.44181005G>A, NG_047067.1:g.112144G>A, NM_002606.3:c.1073G>A, NM_002606.2:c.1073G>A, NM_001001584.3:c.452G>A, NM_001001584.2:c.452G>A, NM_001001582.2:c.950G>A, NM_001001582.1:c.950G>A, NM_001001583.2:c.995G>A, NM_001001583.1:c.995G>A, NM_001315533.2:c.749G>A, NM_001315533.1:c.749G>A, NM_001001585.2:c.452G>A, NM_001001585.1:c.452G>A, NM_001001581.2:c.872G>A, NM_001001581.1:c.872G>A, NM_001001570.2:c.914G>A, NM_001001570.1:c.914G>A, NM_001001567.2:c.893G>A, NM_001001567.1:c.893G>A, NM_001001573.2:c.452G>A, NM_001001573.1:c.452G>A, NM_001001571.2:c.770G>A, NM_001001571.1:c.770G>A, NM_001001574.2:c.815G>A, NM_001001574.1:c.815G>A, NM_001001578.2:c.767G>A, NM_001001578.1:c.767G>A, NM_001001579.2:c.452G>A, NM_001001579.1:c.452G>A, NM_001001568.2:c.692G>A, NM_001001568.1:c.692G>A, NM_001001577.2:c.671G>A, NM_001001577.1:c.671G>A, NM_001001572.2:c.452G>A, NM_001001572.1:c.452G>A, NM_001001569.2:c.689G>A, NM_001001569.1:c.689G>A, NM_001001575.2:c.593G>A, NM_001001575.1:c.593G>A, NM_001001576.2:c.422G>A, NM_001001576.1:c.422G>A, NM_001001580.2:c.422G>A, NM_001001580.1:c.422G>A, XM_011529598.3:c.929G>A, XM_011529598.2:c.929G>A, XM_011529598.1:c.929G>A, XM_011529600.3:c.1073G>A, XM_011529600.2:c.1073G>A, XM_011529600.1:c.1073G>A, XM_017028366.2:c.452G>A, XM_017028366.1:c.452G>A, NP_002597.1:p.Gly358Asp, NP_001001584.1:p.Gly151Asp, NP_001001582.1:p.Gly317Asp, NP_001001583.1:p.Gly332Asp, NP_001302462.1:p.Gly250Asp, NP_001001585.1:p.Gly151Asp, NP_001001581.1:p.Gly291Asp, NP_001001570.1:p.Gly305Asp, NP_001001567.1:p.Gly298Asp, NP_001001573.1:p.Gly151Asp, NP_001001571.1:p.Gly257Asp, NP_001001574.1:p.Gly272Asp, NP_001001578.1:p.Gly256Asp, NP_001001579.1:p.Gly151Asp, NP_001001568.1:p.Gly231Asp, NP_001001577.1:p.Gly224Asp, NP_001001572.1:p.Gly151Asp, NP_001001569.1:p.Gly230Asp, NP_001001575.1:p.Gly198Asp, NP_001001576.1:p.Gly141Asp, NP_001001580.1:p.Gly141Asp, XP_011527900.1:p.Gly310Asp, XP_011527902.1:p.Gly358Asp, XP_016883855.1:p.Gly151Asp

                                16.

                                rs1463332775 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  21:42772451 (GRCh38)
                                  21:44192561 (GRCh37)
                                  Canonical SPDI:
                                  NC_000021.9:42772450:A:G
                                  Gene:
                                  PDE9A (Varview)
                                  Functional Consequence:
                                  missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000021.9:g.42772451A>G, NC_000021.8:g.44192561A>G, NG_047067.1:g.123700A>G, NM_002606.3:c.1699A>G, NM_002606.2:c.1699A>G, NM_001001584.3:c.1078A>G, NM_001001584.2:c.1078A>G, NM_001001582.2:c.1576A>G, NM_001001582.1:c.1576A>G, NM_001001583.2:c.1621A>G, NM_001001583.1:c.1621A>G, NM_001315533.2:c.1375A>G, NM_001315533.1:c.1375A>G, NM_001001585.2:c.1078A>G, NM_001001585.1:c.1078A>G, NM_001001581.2:c.1498A>G, NM_001001581.1:c.1498A>G, NM_001001570.2:c.1540A>G, NM_001001570.1:c.1540A>G, NM_001001567.2:c.1519A>G, NM_001001567.1:c.1519A>G, NM_001001573.2:c.1078A>G, NM_001001573.1:c.1078A>G, NM_001001571.2:c.1396A>G, NM_001001571.1:c.1396A>G, NM_001001574.2:c.1441A>G, NM_001001574.1:c.1441A>G, NM_001001578.2:c.1393A>G, NM_001001578.1:c.1393A>G, NM_001001579.2:c.1078A>G, NM_001001579.1:c.1078A>G, NM_001001568.2:c.1318A>G, NM_001001568.1:c.1318A>G, NM_001001577.2:c.1297A>G, NM_001001577.1:c.1297A>G, NM_001001572.2:c.1078A>G, NM_001001572.1:c.1078A>G, NM_001001569.2:c.1315A>G, NM_001001569.1:c.1315A>G, NM_001001575.2:c.1219A>G, NM_001001575.1:c.1219A>G, NM_001001576.2:c.1048A>G, NM_001001576.1:c.1048A>G, NM_001001580.2:c.1048A>G, NM_001001580.1:c.1048A>G, XM_011529598.3:c.1555A>G, XM_011529598.2:c.1555A>G, XM_011529598.1:c.1555A>G, XM_017028366.2:c.1078A>G, XM_017028366.1:c.1078A>G, NP_002597.1:p.Thr567Ala, NP_001001584.1:p.Thr360Ala, NP_001001582.1:p.Thr526Ala, NP_001001583.1:p.Thr541Ala, NP_001302462.1:p.Thr459Ala, NP_001001585.1:p.Thr360Ala, NP_001001581.1:p.Thr500Ala, NP_001001570.1:p.Thr514Ala, NP_001001567.1:p.Thr507Ala, NP_001001573.1:p.Thr360Ala, NP_001001571.1:p.Thr466Ala, NP_001001574.1:p.Thr481Ala, NP_001001578.1:p.Thr465Ala, NP_001001579.1:p.Thr360Ala, NP_001001568.1:p.Thr440Ala, NP_001001577.1:p.Thr433Ala, NP_001001572.1:p.Thr360Ala, NP_001001569.1:p.Thr439Ala, NP_001001575.1:p.Thr407Ala, NP_001001576.1:p.Thr350Ala, NP_001001580.1:p.Thr350Ala, XP_011527900.1:p.Thr519Ala, XP_016883855.1:p.Thr360Ala

                                  17.

                                  rs1462907636 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    21:42760418 (GRCh38)
                                    21:44180528 (GRCh37)
                                    Canonical SPDI:
                                    NC_000021.9:42760417:C:T
                                    Gene:
                                    PDE9A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000021.9:g.42760418C>T, NC_000021.8:g.44180528C>T, NG_047067.1:g.111667C>T, NM_002606.3:c.988C>T, NM_002606.2:c.988C>T, NM_001001584.3:c.367C>T, NM_001001584.2:c.367C>T, NM_001001582.2:c.865C>T, NM_001001582.1:c.865C>T, NM_001001583.2:c.910C>T, NM_001001583.1:c.910C>T, NM_001315533.2:c.664C>T, NM_001315533.1:c.664C>T, NM_001001585.2:c.367C>T, NM_001001585.1:c.367C>T, NM_001001581.2:c.787C>T, NM_001001581.1:c.787C>T, NM_001001570.2:c.829C>T, NM_001001570.1:c.829C>T, NM_001001567.2:c.808C>T, NM_001001567.1:c.808C>T, NM_001001573.2:c.367C>T, NM_001001573.1:c.367C>T, NM_001001571.2:c.685C>T, NM_001001571.1:c.685C>T, NM_001001574.2:c.730C>T, NM_001001574.1:c.730C>T, NM_001001578.2:c.682C>T, NM_001001578.1:c.682C>T, NM_001001579.2:c.367C>T, NM_001001579.1:c.367C>T, NM_001001568.2:c.607C>T, NM_001001568.1:c.607C>T, NM_001001577.2:c.586C>T, NM_001001577.1:c.586C>T, NM_001001572.2:c.367C>T, NM_001001572.1:c.367C>T, NM_001001569.2:c.604C>T, NM_001001569.1:c.604C>T, NM_001001575.2:c.508C>T, NM_001001575.1:c.508C>T, NM_001001576.2:c.337C>T, NM_001001576.1:c.337C>T, NM_001001580.2:c.337C>T, NM_001001580.1:c.337C>T, XM_011529598.3:c.844C>T, XM_011529598.2:c.844C>T, XM_011529598.1:c.844C>T, XM_011529600.3:c.988C>T, XM_011529600.2:c.988C>T, XM_011529600.1:c.988C>T, XM_017028366.2:c.367C>T, XM_017028366.1:c.367C>T, NP_002597.1:p.Leu330Phe, NP_001001584.1:p.Leu123Phe, NP_001001582.1:p.Leu289Phe, NP_001001583.1:p.Leu304Phe, NP_001302462.1:p.Leu222Phe, NP_001001585.1:p.Leu123Phe, NP_001001581.1:p.Leu263Phe, NP_001001570.1:p.Leu277Phe, NP_001001567.1:p.Leu270Phe, NP_001001573.1:p.Leu123Phe, NP_001001571.1:p.Leu229Phe, NP_001001574.1:p.Leu244Phe, NP_001001578.1:p.Leu228Phe, NP_001001579.1:p.Leu123Phe, NP_001001568.1:p.Leu203Phe, NP_001001577.1:p.Leu196Phe, NP_001001572.1:p.Leu123Phe, NP_001001569.1:p.Leu202Phe, NP_001001575.1:p.Leu170Phe, NP_001001576.1:p.Leu113Phe, NP_001001580.1:p.Leu113Phe, XP_011527900.1:p.Leu282Phe, XP_011527902.1:p.Leu330Phe, XP_016883855.1:p.Leu123Phe

                                    18.

                                    rs1460031404 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CCACCG>- [Show Flanks]
                                      Chromosome:
                                      21:42772473 (GRCh38)
                                      21:44192583 (GRCh37)
                                      Canonical SPDI:
                                      NC_000021.9:42772471:GCCACCG:G
                                      Gene:
                                      PDE9A (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,inframe_deletion,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      -=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000021.9:g.42772473_42772478del, NC_000021.8:g.44192583_44192588del, NG_047067.1:g.123722_123727del, NM_002606.3:c.1721_1726del, NM_002606.2:c.1721_1726del, NM_001001584.3:c.1100_1105del, NM_001001584.2:c.1100_1105del, NM_001001582.2:c.1598_1603del, NM_001001582.1:c.1598_1603del, NM_001001583.2:c.1643_1648del, NM_001001583.1:c.1643_1648del, NM_001315533.2:c.1397_1402del, NM_001315533.1:c.1397_1402del, NM_001001585.2:c.1100_1105del, NM_001001585.1:c.1100_1105del, NM_001001581.2:c.1520_1525del, NM_001001581.1:c.1520_1525del, NM_001001570.2:c.1562_1567del, NM_001001570.1:c.1562_1567del, NM_001001567.2:c.1541_1546del, NM_001001567.1:c.1541_1546del, NM_001001573.2:c.1100_1105del, NM_001001573.1:c.1100_1105del, NM_001001571.2:c.1418_1423del, NM_001001571.1:c.1418_1423del, NM_001001574.2:c.1463_1468del, NM_001001574.1:c.1463_1468del, NM_001001578.2:c.1415_1420del, NM_001001578.1:c.1415_1420del, NM_001001579.2:c.1100_1105del, NM_001001579.1:c.1100_1105del, NM_001001568.2:c.1340_1345del, NM_001001568.1:c.1340_1345del, NM_001001577.2:c.1319_1324del, NM_001001577.1:c.1319_1324del, NM_001001572.2:c.1100_1105del, NM_001001572.1:c.1100_1105del, NM_001001569.2:c.1337_1342del, NM_001001569.1:c.1337_1342del, NM_001001575.2:c.1241_1246del, NM_001001575.1:c.1241_1246del, NM_001001576.2:c.1070_1075del, NM_001001576.1:c.1070_1075del, NM_001001580.2:c.1070_1075del, NM_001001580.1:c.1070_1075del, XM_011529598.3:c.1577_1582del, XM_011529598.2:c.1577_1582del, XM_011529598.1:c.1577_1582del, XM_017028366.2:c.1100_1105del, XM_017028366.1:c.1100_1105del, NP_002597.1:p.Ala574_Thr575del, NP_001001584.1:p.Ala367_Thr368del, NP_001001582.1:p.Ala533_Thr534del, NP_001001583.1:p.Ala548_Thr549del, NP_001302462.1:p.Ala466_Thr467del, NP_001001585.1:p.Ala367_Thr368del, NP_001001581.1:p.Ala507_Thr508del, NP_001001570.1:p.Ala521_Thr522del, NP_001001567.1:p.Ala514_Thr515del, NP_001001573.1:p.Ala367_Thr368del, NP_001001571.1:p.Ala473_Thr474del, NP_001001574.1:p.Ala488_Thr489del, NP_001001578.1:p.Ala472_Thr473del, NP_001001579.1:p.Ala367_Thr368del, NP_001001568.1:p.Ala447_Thr448del, NP_001001577.1:p.Ala440_Thr441del, NP_001001572.1:p.Ala367_Thr368del, NP_001001569.1:p.Ala446_Thr447del, NP_001001575.1:p.Ala414_Thr415del, NP_001001576.1:p.Ala357_Thr358del, NP_001001580.1:p.Ala357_Thr358del, XP_011527900.1:p.Ala526_Thr527del, XP_016883855.1:p.Ala367_Thr368del

                                      19.

                                      rs1452464562 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        21:42760358 (GRCh38)
                                        21:44180468 (GRCh37)
                                        Canonical SPDI:
                                        NC_000021.9:42760357:C:A
                                        Gene:
                                        PDE9A (Varview)
                                        Functional Consequence:
                                        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_000021.9:g.42760358C>A, NC_000021.8:g.44180468C>A, NG_047067.1:g.111607C>A, NM_002606.3:c.928C>A, NM_002606.2:c.928C>A, NM_001001584.3:c.307C>A, NM_001001584.2:c.307C>A, NM_001001582.2:c.805C>A, NM_001001582.1:c.805C>A, NM_001001583.2:c.850C>A, NM_001001583.1:c.850C>A, NM_001315533.2:c.604C>A, NM_001315533.1:c.604C>A, NM_001001585.2:c.307C>A, NM_001001585.1:c.307C>A, NM_001001581.2:c.727C>A, NM_001001581.1:c.727C>A, NM_001001570.2:c.769C>A, NM_001001570.1:c.769C>A, NM_001001567.2:c.748C>A, NM_001001567.1:c.748C>A, NM_001001573.2:c.307C>A, NM_001001573.1:c.307C>A, NM_001001571.2:c.625C>A, NM_001001571.1:c.625C>A, NM_001001574.2:c.670C>A, NM_001001574.1:c.670C>A, NM_001001578.2:c.622C>A, NM_001001578.1:c.622C>A, NM_001001579.2:c.307C>A, NM_001001579.1:c.307C>A, NM_001001568.2:c.547C>A, NM_001001568.1:c.547C>A, NM_001001577.2:c.526C>A, NM_001001577.1:c.526C>A, NM_001001572.2:c.307C>A, NM_001001572.1:c.307C>A, NM_001001569.2:c.544C>A, NM_001001569.1:c.544C>A, NM_001001575.2:c.448C>A, NM_001001575.1:c.448C>A, NM_001001576.2:c.277C>A, NM_001001576.1:c.277C>A, NM_001001580.2:c.277C>A, NM_001001580.1:c.277C>A, XM_011529598.3:c.784C>A, XM_011529598.2:c.784C>A, XM_011529598.1:c.784C>A, XM_011529600.3:c.928C>A, XM_011529600.2:c.928C>A, XM_011529600.1:c.928C>A, XM_017028366.2:c.307C>A, XM_017028366.1:c.307C>A, NP_002597.1:p.Pro310Thr, NP_001001584.1:p.Pro103Thr, NP_001001582.1:p.Pro269Thr, NP_001001583.1:p.Pro284Thr, NP_001302462.1:p.Pro202Thr, NP_001001585.1:p.Pro103Thr, NP_001001581.1:p.Pro243Thr, NP_001001570.1:p.Pro257Thr, NP_001001567.1:p.Pro250Thr, NP_001001573.1:p.Pro103Thr, NP_001001571.1:p.Pro209Thr, NP_001001574.1:p.Pro224Thr, NP_001001578.1:p.Pro208Thr, NP_001001579.1:p.Pro103Thr, NP_001001568.1:p.Pro183Thr, NP_001001577.1:p.Pro176Thr, NP_001001572.1:p.Pro103Thr, NP_001001569.1:p.Pro182Thr, NP_001001575.1:p.Pro150Thr, NP_001001576.1:p.Pro93Thr, NP_001001580.1:p.Pro93Thr, XP_011527900.1:p.Pro262Thr, XP_011527902.1:p.Pro310Thr, XP_016883855.1:p.Pro103Thr

                                        20.

                                        rs1447137726 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          21:42769060 (GRCh38)
                                          21:44189170 (GRCh37)
                                          Canonical SPDI:
                                          NC_000021.9:42769059:G:T
                                          Gene:
                                          PDE9A (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000021.9:g.42769060G>T, NC_000021.8:g.44189170G>T, NG_047067.1:g.120309G>T, NM_002606.3:c.1495G>T, NM_002606.2:c.1495G>T, NM_001001584.3:c.874G>T, NM_001001584.2:c.874G>T, NM_001001582.2:c.1372G>T, NM_001001582.1:c.1372G>T, NM_001001583.2:c.1417G>T, NM_001001583.1:c.1417G>T, NM_001315533.2:c.1171G>T, NM_001315533.1:c.1171G>T, NM_001001585.2:c.874G>T, NM_001001585.1:c.874G>T, NM_001001581.2:c.1294G>T, NM_001001581.1:c.1294G>T, NM_001001570.2:c.1336G>T, NM_001001570.1:c.1336G>T, NM_001001567.2:c.1315G>T, NM_001001567.1:c.1315G>T, NM_001001573.2:c.874G>T, NM_001001573.1:c.874G>T, NM_001001571.2:c.1192G>T, NM_001001571.1:c.1192G>T, NM_001001574.2:c.1237G>T, NM_001001574.1:c.1237G>T, NM_001001578.2:c.1189G>T, NM_001001578.1:c.1189G>T, NM_001001579.2:c.874G>T, NM_001001579.1:c.874G>T, NM_001001568.2:c.1114G>T, NM_001001568.1:c.1114G>T, NM_001001577.2:c.1093G>T, NM_001001577.1:c.1093G>T, NM_001001572.2:c.874G>T, NM_001001572.1:c.874G>T, NM_001001569.2:c.1111G>T, NM_001001569.1:c.1111G>T, NM_001001575.2:c.1015G>T, NM_001001575.1:c.1015G>T, NM_001001576.2:c.844G>T, NM_001001576.1:c.844G>T, NM_001001580.2:c.844G>T, NM_001001580.1:c.844G>T, XM_011529598.3:c.1351G>T, XM_011529598.2:c.1351G>T, XM_011529598.1:c.1351G>T, XM_017028366.2:c.874G>T, XM_017028366.1:c.874G>T, NP_002597.1:p.Ala499Ser, NP_001001584.1:p.Ala292Ser, NP_001001582.1:p.Ala458Ser, NP_001001583.1:p.Ala473Ser, NP_001302462.1:p.Ala391Ser, NP_001001585.1:p.Ala292Ser, NP_001001581.1:p.Ala432Ser, NP_001001570.1:p.Ala446Ser, NP_001001567.1:p.Ala439Ser, NP_001001573.1:p.Ala292Ser, NP_001001571.1:p.Ala398Ser, NP_001001574.1:p.Ala413Ser, NP_001001578.1:p.Ala397Ser, NP_001001579.1:p.Ala292Ser, NP_001001568.1:p.Ala372Ser, NP_001001577.1:p.Ala365Ser, NP_001001572.1:p.Ala292Ser, NP_001001569.1:p.Ala371Ser, NP_001001575.1:p.Ala339Ser, NP_001001576.1:p.Ala282Ser, NP_001001580.1:p.Ala282Ser, XP_011527900.1:p.Ala451Ser, XP_016883855.1:p.Ala292Ser

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