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Items: 1 to 20 of 568

1.

rs1489874492 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:31865000 (GRCh38)
    7:31904614 (GRCh37)
    Canonical SPDI:
    NC_000007.14:31864999:A:G
    Gene:
    PDE1C (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000007.14:g.31865000A>G, NC_000007.13:g.31904614A>G, NG_051183.1:g.568225T>C, NM_005020.5:c.692T>C, NM_005020.4:c.692T>C, NM_005020.3:c.692T>C, NM_005020.2:c.692T>C, NM_001191058.4:c.872T>C, NM_001191058.3:c.872T>C, NM_001191058.2:c.872T>C, NM_001191058.1:c.872T>C, NM_001191059.4:c.692T>C, NM_001191059.3:c.692T>C, NM_001191059.2:c.692T>C, NM_001191059.1:c.692T>C, NM_001191057.4:c.692T>C, NM_001191057.3:c.692T>C, NM_001191057.2:c.692T>C, NM_001191057.1:c.692T>C, NM_001191056.3:c.692T>C, NM_001191056.2:c.692T>C, NM_001191056.1:c.692T>C, NM_001322058.2:c.872T>C, NM_001322058.1:c.872T>C, NM_001322059.2:c.1097T>C, NM_001322059.1:c.1097T>C, NM_001322057.2:c.692T>C, NM_001322057.1:c.692T>C, NM_001322056.2:c.692T>C, NM_001322056.1:c.692T>C, NM_001322055.2:c.692T>C, NM_001322055.1:c.692T>C, XM_017012266.2:c.977T>C, XM_017012266.1:c.977T>C, XM_017012267.2:c.692T>C, XM_017012267.1:c.692T>C, XM_047420445.1:c.353T>C, XM_047420446.1:c.353T>C, XM_047420444.1:c.692T>C, XM_047420440.1:c.692T>C, XM_017012264.1:c.977T>C, XM_017012265.1:c.812T>C, XR_007060043.1:n.1161T>C, XR_007060041.1:n.992T>C, XR_001744803.1:n.992T>C, XM_047420441.1:c.692T>C, XM_047420443.1:c.692T>C, XR_001744802.1:n.992T>C, XM_047420442.1:c.692T>C, XR_007060042.1:n.744T>C, XR_007060044.1:n.744T>C, NP_005011.1:p.Met231Thr, NP_001177987.2:p.Met291Thr, NP_001177988.1:p.Met231Thr, NP_001177986.1:p.Met231Thr, NP_001177985.1:p.Met231Thr, NP_001308987.1:p.Met291Thr, NP_001308988.1:p.Met366Thr, NP_001308986.1:p.Met231Thr, NP_001308985.1:p.Met231Thr, NP_001308984.1:p.Met231Thr, XP_016867755.1:p.Met326Thr, XP_016867756.1:p.Met231Thr, XP_047276401.1:p.Met118Thr, XP_047276402.1:p.Met118Thr, XP_047276400.1:p.Met231Thr, XP_047276396.1:p.Met231Thr, XP_016867753.1:p.Met326Thr, XP_016867754.1:p.Met271Thr, XP_047276397.1:p.Met231Thr, XP_047276399.1:p.Met231Thr, XP_047276398.1:p.Met231Thr

    2.

    rs1489590711 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      7:31824904 (GRCh38)
      7:31864518 (GRCh37)
      Canonical SPDI:
      NC_000007.14:31824903:T:C
      Gene:
      PDE1C (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.31824904T>C, NC_000007.13:g.31864518T>C, NG_051183.1:g.608321A>G, NM_005020.5:c.1369A>G, NM_005020.4:c.1369A>G, NM_005020.3:c.1369A>G, NM_005020.2:c.1369A>G, NM_001191058.4:c.1549A>G, NM_001191058.3:c.1549A>G, NM_001191058.2:c.1549A>G, NM_001191058.1:c.1549A>G, NM_001191059.4:c.1369A>G, NM_001191059.3:c.1369A>G, NM_001191059.2:c.1369A>G, NM_001191059.1:c.1369A>G, NM_001191057.4:c.1369A>G, NM_001191057.3:c.1369A>G, NM_001191057.2:c.1369A>G, NM_001191057.1:c.1369A>G, NM_001191056.3:c.1369A>G, NM_001191056.2:c.1369A>G, NM_001191056.1:c.1369A>G, NM_001322058.2:c.1549A>G, NM_001322058.1:c.1549A>G, NM_001322059.2:c.1774A>G, NM_001322059.1:c.1774A>G, NM_001322057.2:c.1369A>G, NM_001322057.1:c.1369A>G, NM_001322056.2:c.1369A>G, NM_001322056.1:c.1369A>G, NM_001322055.2:c.1369A>G, NM_001322055.1:c.1369A>G, XM_017012266.2:c.1654A>G, XM_017012266.1:c.1654A>G, XM_017012267.2:c.1369A>G, XM_017012267.1:c.1369A>G, XM_047420445.1:c.1030A>G, XM_047420446.1:c.1030A>G, XM_047420444.1:c.1369A>G, XM_047420440.1:c.1369A>G, XM_017012264.1:c.1654A>G, XM_017012265.1:c.1489A>G, XR_007060043.1:n.1838A>G, XR_007060041.1:n.1669A>G, XR_001744803.1:n.1669A>G, XM_047420441.1:c.1369A>G, XM_047420443.1:c.1369A>G, XR_001744802.1:n.1669A>G, XM_047420442.1:c.1369A>G, XR_007060042.1:n.1421A>G, XR_007060044.1:n.1421A>G, NP_005011.1:p.Thr457Ala, NP_001177987.2:p.Thr517Ala, NP_001177988.1:p.Thr457Ala, NP_001177986.1:p.Thr457Ala, NP_001177985.1:p.Thr457Ala, NP_001308987.1:p.Thr517Ala, NP_001308988.1:p.Thr592Ala, NP_001308986.1:p.Thr457Ala, NP_001308985.1:p.Thr457Ala, NP_001308984.1:p.Thr457Ala, XP_016867755.1:p.Thr552Ala, XP_016867756.1:p.Thr457Ala, XP_047276401.1:p.Thr344Ala, XP_047276402.1:p.Thr344Ala, XP_047276400.1:p.Thr457Ala, XP_047276396.1:p.Thr457Ala, XP_016867753.1:p.Thr552Ala, XP_016867754.1:p.Thr497Ala, XP_047276397.1:p.Thr457Ala, XP_047276399.1:p.Thr457Ala, XP_047276398.1:p.Thr457Ala

      3.

      rs1489293544 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>- [Show Flanks]
        Chromosome:
        7:31815977 (GRCh38)
        7:31855591 (GRCh37)
        Canonical SPDI:
        NC_000007.14:31815976:GGG:GG
        Gene:
        PDE1C (Varview)
        Functional Consequence:
        downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
        Validated:
        by frequency,by alfa
        MAF:
        GG=0./0 (ALFA)
        -=0.000008/2 (TOPMED)
        HGVS:
        NC_000007.14:g.31815979del, NC_000007.13:g.31855593del, NG_051183.1:g.617248del, NM_005020.5:c.1760del, NM_005020.4:c.1760del, NM_005020.3:c.1760del, NM_005020.2:c.1760del, NM_001191058.4:c.1940del, NM_001191058.3:c.1940del, NM_001191058.2:c.1940del, NM_001191058.1:c.1940del, NM_001191059.4:c.1760del, NM_001191059.3:c.1760del, NM_001191059.2:c.1760del, NM_001191059.1:c.1760del, NM_001191057.4:c.1760del, NM_001191057.3:c.1760del, NM_001191057.2:c.1760del, NM_001191057.1:c.1760del, NM_001191056.3:c.1760del, NM_001191056.2:c.1760del, NM_001191056.1:c.1760del, NM_001322058.2:c.1940del, NM_001322058.1:c.1940del, NM_001322059.2:c.2165del, NM_001322059.1:c.2165del, NM_001322057.2:c.1760del, NM_001322057.1:c.1760del, NM_001322056.2:c.1760del, NM_001322056.1:c.1760del, NM_001322055.2:c.1760del, NM_001322055.1:c.1760del, XM_017012266.2:c.2045del, XM_017012266.1:c.2045del, XM_017012267.2:c.1760del, XM_017012267.1:c.1760del, XM_047420445.1:c.1421del, XM_047420446.1:c.1421del, XM_047420444.1:c.1760del, XM_047420440.1:c.1760del, XM_017012264.1:c.2045del, XM_017012265.1:c.1880del, XR_007060043.1:n.2229del, XR_001744803.1:n.2060del, XM_047420441.1:c.1760del, XM_047420443.1:c.1760del, XR_001744802.1:n.2060del, XM_047420442.1:c.1760del, XR_007060042.1:n.1812del, XR_007060044.1:n.1812del, NP_005011.1:p.Pro587fs, NP_001177987.2:p.Pro647fs, NP_001177988.1:p.Pro587fs, NP_001177986.1:p.Pro587fs, NP_001177985.1:p.Pro587fs, NP_001308987.1:p.Pro647fs, NP_001308988.1:p.Pro722fs, NP_001308986.1:p.Pro587fs, NP_001308985.1:p.Pro587fs, NP_001308984.1:p.Pro587fs, XP_016867755.1:p.Pro682fs, XP_016867756.1:p.Pro587fs, XP_047276401.1:p.Pro474fs, XP_047276402.1:p.Pro474fs, XP_047276400.1:p.Pro587fs, XP_047276396.1:p.Pro587fs, XP_016867753.1:p.Pro682fs, XP_016867754.1:p.Pro627fs, XP_047276397.1:p.Pro587fs, XP_047276399.1:p.Pro587fs, XP_047276398.1:p.Pro587fs

        4.

        rs1488095443 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          7:31879015 (GRCh38)
          7:31918628 (GRCh37)
          Canonical SPDI:
          NC_000007.14:31879014:CC:C
          Gene:
          PDE1C (Varview)
          Functional Consequence:
          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CC=0.000071/1 (ALFA)
          -=0.000008/2 (TOPMED)
          -=0.000014/2 (GnomAD)
          HGVS:
          NC_000007.14:g.31879016del, NC_000007.13:g.31918629del, NG_051183.1:g.554210del, NM_005020.5:c.406del, NM_005020.4:c.406del, NM_005020.3:c.406del, NM_005020.2:c.406del, NM_001191058.4:c.586del, NM_001191058.3:c.586del, NM_001191058.2:c.586del, NM_001191058.1:c.586del, NM_001191059.4:c.406del, NM_001191059.3:c.406del, NM_001191059.2:c.406del, NM_001191059.1:c.406del, NM_001191057.4:c.406del, NM_001191057.3:c.406del, NM_001191057.2:c.406del, NM_001191057.1:c.406del, NM_001191056.3:c.406del, NM_001191056.2:c.406del, NM_001191056.1:c.406del, NM_001322058.2:c.586del, NM_001322058.1:c.586del, NM_001322059.2:c.811del, NM_001322059.1:c.811del, NM_001322057.2:c.406del, NM_001322057.1:c.406del, NM_001322056.2:c.406del, NM_001322056.1:c.406del, NM_001322055.2:c.406del, NM_001322055.1:c.406del, XM_017012266.2:c.691del, XM_017012266.1:c.691del, XM_017012267.2:c.406del, XM_017012267.1:c.406del, XM_047420445.1:c.67del, XM_047420446.1:c.67del, XM_047420444.1:c.406del, XM_047420440.1:c.406del, XM_017012264.1:c.691del, XM_017012265.1:c.526del, XR_007060043.1:n.875del, XR_007060041.1:n.706del, XR_001744803.1:n.706del, XM_047420441.1:c.406del, XM_047420443.1:c.406del, XR_001744802.1:n.706del, XM_047420442.1:c.406del, XR_007060042.1:n.458del, XR_007060044.1:n.458del, NP_005011.1:p.Ala136fs, NP_001177987.2:p.Ala196fs, NP_001177988.1:p.Ala136fs, NP_001177986.1:p.Ala136fs, NP_001177985.1:p.Ala136fs, NP_001308987.1:p.Ala196fs, NP_001308988.1:p.Ala271fs, NP_001308986.1:p.Ala136fs, NP_001308985.1:p.Ala136fs, NP_001308984.1:p.Ala136fs, XP_016867755.1:p.Ala231fs, XP_016867756.1:p.Ala136fs, XP_047276401.1:p.Ala23fs, XP_047276402.1:p.Ala23fs, XP_047276400.1:p.Ala136fs, XP_047276396.1:p.Ala136fs, XP_016867753.1:p.Ala231fs, XP_016867754.1:p.Ala176fs, XP_047276397.1:p.Ala136fs, XP_047276399.1:p.Ala136fs, XP_047276398.1:p.Ala136fs

          5.

          rs1486547892 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            7:31837899 (GRCh38)
            7:31877513 (GRCh37)
            Canonical SPDI:
            NC_000007.14:31837898:T:C
            Gene:
            PDE1C (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            HGVS:
            NC_000007.14:g.31837899T>C, NC_000007.13:g.31877513T>C, NG_051183.1:g.595326A>G, NM_005020.5:c.1053A>G, NM_005020.4:c.1053A>G, NM_005020.3:c.1053A>G, NM_005020.2:c.1053A>G, NM_001191058.4:c.1233A>G, NM_001191058.3:c.1233A>G, NM_001191058.2:c.1233A>G, NM_001191058.1:c.1233A>G, NM_001191059.4:c.1053A>G, NM_001191059.3:c.1053A>G, NM_001191059.2:c.1053A>G, NM_001191059.1:c.1053A>G, NM_001191057.4:c.1053A>G, NM_001191057.3:c.1053A>G, NM_001191057.2:c.1053A>G, NM_001191057.1:c.1053A>G, NM_001191056.3:c.1053A>G, NM_001191056.2:c.1053A>G, NM_001191056.1:c.1053A>G, NM_001322058.2:c.1233A>G, NM_001322058.1:c.1233A>G, NM_001322059.2:c.1458A>G, NM_001322059.1:c.1458A>G, NM_001322057.2:c.1053A>G, NM_001322057.1:c.1053A>G, NM_001322056.2:c.1053A>G, NM_001322056.1:c.1053A>G, NM_001322055.2:c.1053A>G, NM_001322055.1:c.1053A>G, XM_017012266.2:c.1338A>G, XM_017012266.1:c.1338A>G, XM_017012267.2:c.1053A>G, XM_017012267.1:c.1053A>G, XM_047420445.1:c.714A>G, XM_047420446.1:c.714A>G, XM_047420444.1:c.1053A>G, XM_047420440.1:c.1053A>G, XM_017012264.1:c.1338A>G, XM_017012265.1:c.1173A>G, XR_007060043.1:n.1522A>G, XR_007060041.1:n.1353A>G, XR_001744803.1:n.1353A>G, XM_047420441.1:c.1053A>G, XM_047420443.1:c.1053A>G, XR_001744802.1:n.1353A>G, XM_047420442.1:c.1053A>G, XR_007060042.1:n.1105A>G, XR_007060044.1:n.1105A>G

            6.

            rs1484741488 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              7:31809070 (GRCh38)
              7:31848684 (GRCh37)
              Canonical SPDI:
              NC_000007.14:31809069:C:A
              Gene:
              PDE1C (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              HGVS:
              NC_000007.14:g.31809070C>A, NC_000007.13:g.31848684C>A, NG_051183.1:g.624155G>T, NM_005020.5:c.1852G>T, NM_005020.4:c.1852G>T, NM_005020.3:c.1852G>T, NM_005020.2:c.1852G>T, NM_001191058.4:c.2032G>T, NM_001191058.3:c.2032G>T, NM_001191058.2:c.2032G>T, NM_001191058.1:c.2032G>T, NM_001191059.4:c.1852G>T, NM_001191059.3:c.1852G>T, NM_001191059.2:c.1852G>T, NM_001191059.1:c.1852G>T, NM_001191057.4:c.1852G>T, NM_001191057.3:c.1852G>T, NM_001191057.2:c.1852G>T, NM_001191057.1:c.1852G>T, NM_001191056.3:c.1852G>T, NM_001191056.2:c.1852G>T, NM_001191056.1:c.1852G>T, NM_001322058.2:c.2032G>T, NM_001322058.1:c.2032G>T, NM_001322059.2:c.2257G>T, NM_001322059.1:c.2257G>T, NM_001322057.2:c.1852G>T, NM_001322057.1:c.1852G>T, NM_001322056.2:c.1852G>T, NM_001322056.1:c.1852G>T, NM_001322055.2:c.1852G>T, NM_001322055.1:c.1852G>T, XM_017012266.2:c.2137G>T, XM_017012266.1:c.2137G>T, XM_017012267.2:c.1852G>T, XM_017012267.1:c.1852G>T, XM_047420445.1:c.1513G>T, XM_047420446.1:c.1513G>T, XM_047420444.1:c.1852G>T, XM_047420440.1:c.1852G>T, XM_017012264.1:c.2137G>T, XM_017012265.1:c.1972G>T, XR_007060043.1:n.2321G>T, XR_001744803.1:n.2152G>T, XM_047420441.1:c.1852G>T, XM_047420443.1:c.1852G>T, XR_001744802.1:n.2152G>T, XM_047420442.1:c.1852G>T, XR_007060042.1:n.1904G>T, XR_007060044.1:n.1904G>T, NP_005011.1:p.Asp618Tyr, NP_001177987.2:p.Asp678Tyr, NP_001177988.1:p.Asp618Tyr, NP_001177986.1:p.Asp618Tyr, NP_001177985.1:p.Asp618Tyr, NP_001308987.1:p.Asp678Tyr, NP_001308988.1:p.Asp753Tyr, NP_001308986.1:p.Asp618Tyr, NP_001308985.1:p.Asp618Tyr, NP_001308984.1:p.Asp618Tyr, XP_016867755.1:p.Asp713Tyr, XP_016867756.1:p.Asp618Tyr, XP_047276401.1:p.Asp505Tyr, XP_047276402.1:p.Asp505Tyr, XP_047276400.1:p.Asp618Tyr, XP_047276396.1:p.Asp618Tyr, XP_016867753.1:p.Asp713Tyr, XP_016867754.1:p.Asp658Tyr, XP_047276397.1:p.Asp618Tyr, XP_047276399.1:p.Asp618Tyr, XP_047276398.1:p.Asp618Tyr

              7.

              rs1483775511 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                7:31873371 (GRCh38)
                7:31912984 (GRCh37)
                Canonical SPDI:
                NC_000007.14:31873370:T:C
                Gene:
                PDE1C (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000035/1 (TOMMO)
                HGVS:
                NC_000007.14:g.31873371T>C, NC_000007.13:g.31912984T>C, NG_051183.1:g.559854A>G, NM_005020.5:c.530A>G, NM_005020.4:c.530A>G, NM_005020.3:c.530A>G, NM_005020.2:c.530A>G, NM_001191058.4:c.710A>G, NM_001191058.3:c.710A>G, NM_001191058.2:c.710A>G, NM_001191058.1:c.710A>G, NM_001191059.4:c.530A>G, NM_001191059.3:c.530A>G, NM_001191059.2:c.530A>G, NM_001191059.1:c.530A>G, NM_001191057.4:c.530A>G, NM_001191057.3:c.530A>G, NM_001191057.2:c.530A>G, NM_001191057.1:c.530A>G, NM_001191056.3:c.530A>G, NM_001191056.2:c.530A>G, NM_001191056.1:c.530A>G, NM_001322058.2:c.710A>G, NM_001322058.1:c.710A>G, NM_001322059.2:c.935A>G, NM_001322059.1:c.935A>G, NM_001322057.2:c.530A>G, NM_001322057.1:c.530A>G, NM_001322056.2:c.530A>G, NM_001322056.1:c.530A>G, NM_001322055.2:c.530A>G, NM_001322055.1:c.530A>G, XM_017012266.2:c.815A>G, XM_017012266.1:c.815A>G, XM_017012267.2:c.530A>G, XM_017012267.1:c.530A>G, XM_047420445.1:c.191A>G, XM_047420446.1:c.191A>G, XM_047420444.1:c.530A>G, XM_047420440.1:c.530A>G, XM_017012264.1:c.815A>G, XM_017012265.1:c.650A>G, XR_007060043.1:n.999A>G, XR_007060041.1:n.830A>G, XR_001744803.1:n.830A>G, XM_047420441.1:c.530A>G, XM_047420443.1:c.530A>G, XR_001744802.1:n.830A>G, XM_047420442.1:c.530A>G, XR_007060042.1:n.582A>G, XR_007060044.1:n.582A>G, NP_005011.1:p.Asn177Ser, NP_001177987.2:p.Asn237Ser, NP_001177988.1:p.Asn177Ser, NP_001177986.1:p.Asn177Ser, NP_001177985.1:p.Asn177Ser, NP_001308987.1:p.Asn237Ser, NP_001308988.1:p.Asn312Ser, NP_001308986.1:p.Asn177Ser, NP_001308985.1:p.Asn177Ser, NP_001308984.1:p.Asn177Ser, XP_016867755.1:p.Asn272Ser, XP_016867756.1:p.Asn177Ser, XP_047276401.1:p.Asn64Ser, XP_047276402.1:p.Asn64Ser, XP_047276400.1:p.Asn177Ser, XP_047276396.1:p.Asn177Ser, XP_016867753.1:p.Asn272Ser, XP_016867754.1:p.Asn217Ser, XP_047276397.1:p.Asn177Ser, XP_047276399.1:p.Asn177Ser, XP_047276398.1:p.Asn177Ser

                8.

                rs1483684361 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C,G [Show Flanks]
                  Chromosome:
                  7:31879020 (GRCh38)
                  7:31918633 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:31879019:A:C,NC_000007.14:31879019:A:G
                  Gene:
                  PDE1C (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000007/1 (GnomAD)
                  G=0.000546/1 (Korea1K)
                  HGVS:
                  NC_000007.14:g.31879020A>C, NC_000007.14:g.31879020A>G, NC_000007.13:g.31918633A>C, NC_000007.13:g.31918633A>G, NG_051183.1:g.554205T>G, NG_051183.1:g.554205T>C, NM_005020.5:c.401T>G, NM_005020.5:c.401T>C, NM_005020.4:c.401T>G, NM_005020.4:c.401T>C, NM_005020.3:c.401T>G, NM_005020.3:c.401T>C, NM_005020.2:c.401T>G, NM_005020.2:c.401T>C, NM_001191058.4:c.581T>G, NM_001191058.4:c.581T>C, NM_001191058.3:c.581T>G, NM_001191058.3:c.581T>C, NM_001191058.2:c.581T>G, NM_001191058.2:c.581T>C, NM_001191058.1:c.581T>G, NM_001191058.1:c.581T>C, NM_001191059.4:c.401T>G, NM_001191059.4:c.401T>C, NM_001191059.3:c.401T>G, NM_001191059.3:c.401T>C, NM_001191059.2:c.401T>G, NM_001191059.2:c.401T>C, NM_001191059.1:c.401T>G, NM_001191059.1:c.401T>C, NM_001191057.4:c.401T>G, NM_001191057.4:c.401T>C, NM_001191057.3:c.401T>G, NM_001191057.3:c.401T>C, NM_001191057.2:c.401T>G, NM_001191057.2:c.401T>C, NM_001191057.1:c.401T>G, NM_001191057.1:c.401T>C, NM_001191056.3:c.401T>G, NM_001191056.3:c.401T>C, NM_001191056.2:c.401T>G, NM_001191056.2:c.401T>C, NM_001191056.1:c.401T>G, NM_001191056.1:c.401T>C, NM_001322058.2:c.581T>G, NM_001322058.2:c.581T>C, NM_001322058.1:c.581T>G, NM_001322058.1:c.581T>C, NM_001322059.2:c.806T>G, NM_001322059.2:c.806T>C, NM_001322059.1:c.806T>G, NM_001322059.1:c.806T>C, NM_001322057.2:c.401T>G, NM_001322057.2:c.401T>C, NM_001322057.1:c.401T>G, NM_001322057.1:c.401T>C, NM_001322056.2:c.401T>G, NM_001322056.2:c.401T>C, NM_001322056.1:c.401T>G, NM_001322056.1:c.401T>C, NM_001322055.2:c.401T>G, NM_001322055.2:c.401T>C, NM_001322055.1:c.401T>G, NM_001322055.1:c.401T>C, XM_017012266.2:c.686T>G, XM_017012266.2:c.686T>C, XM_017012266.1:c.686T>G, XM_017012266.1:c.686T>C, XM_017012267.2:c.401T>G, XM_017012267.2:c.401T>C, XM_017012267.1:c.401T>G, XM_017012267.1:c.401T>C, XM_047420445.1:c.62T>G, XM_047420445.1:c.62T>C, XM_047420446.1:c.62T>G, XM_047420446.1:c.62T>C, XM_047420444.1:c.401T>G, XM_047420444.1:c.401T>C, XM_047420440.1:c.401T>G, XM_047420440.1:c.401T>C, XM_017012264.1:c.686T>G, XM_017012264.1:c.686T>C, XM_017012265.1:c.521T>G, XM_017012265.1:c.521T>C, XR_007060043.1:n.870T>G, XR_007060043.1:n.870T>C, XR_007060041.1:n.701T>G, XR_007060041.1:n.701T>C, XR_001744803.1:n.701T>G, XR_001744803.1:n.701T>C, XM_047420441.1:c.401T>G, XM_047420441.1:c.401T>C, XM_047420443.1:c.401T>G, XM_047420443.1:c.401T>C, XR_001744802.1:n.701T>G, XR_001744802.1:n.701T>C, XM_047420442.1:c.401T>G, XM_047420442.1:c.401T>C, XR_007060042.1:n.453T>G, XR_007060042.1:n.453T>C, XR_007060044.1:n.453T>G, XR_007060044.1:n.453T>C, NP_005011.1:p.Val134Gly, NP_005011.1:p.Val134Ala, NP_001177987.2:p.Val194Gly, NP_001177987.2:p.Val194Ala, NP_001177988.1:p.Val134Gly, NP_001177988.1:p.Val134Ala, NP_001177986.1:p.Val134Gly, NP_001177986.1:p.Val134Ala, NP_001177985.1:p.Val134Gly, NP_001177985.1:p.Val134Ala, NP_001308987.1:p.Val194Gly, NP_001308987.1:p.Val194Ala, NP_001308988.1:p.Val269Gly, NP_001308988.1:p.Val269Ala, NP_001308986.1:p.Val134Gly, NP_001308986.1:p.Val134Ala, NP_001308985.1:p.Val134Gly, NP_001308985.1:p.Val134Ala, NP_001308984.1:p.Val134Gly, NP_001308984.1:p.Val134Ala, XP_016867755.1:p.Val229Gly, XP_016867755.1:p.Val229Ala, XP_016867756.1:p.Val134Gly, XP_016867756.1:p.Val134Ala, XP_047276401.1:p.Val21Gly, XP_047276401.1:p.Val21Ala, XP_047276402.1:p.Val21Gly, XP_047276402.1:p.Val21Ala, XP_047276400.1:p.Val134Gly, XP_047276400.1:p.Val134Ala, XP_047276396.1:p.Val134Gly, XP_047276396.1:p.Val134Ala, XP_016867753.1:p.Val229Gly, XP_016867753.1:p.Val229Ala, XP_016867754.1:p.Val174Gly, XP_016867754.1:p.Val174Ala, XP_047276397.1:p.Val134Gly, XP_047276397.1:p.Val134Ala, XP_047276399.1:p.Val134Gly, XP_047276399.1:p.Val134Ala, XP_047276398.1:p.Val134Gly, XP_047276398.1:p.Val134Ala

                  9.

                  rs1480489799 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:31848035 (GRCh38)
                    7:31887649 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:31848034:C:T
                    Gene:
                    PDE1C (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000007.14:g.31848035C>T, NC_000007.13:g.31887649C>T, NG_051183.1:g.585190G>A, NM_005020.5:c.913G>A, NM_005020.4:c.913G>A, NM_005020.3:c.913G>A, NM_005020.2:c.913G>A, NM_001191058.4:c.1093G>A, NM_001191058.3:c.1093G>A, NM_001191058.2:c.1093G>A, NM_001191058.1:c.1093G>A, NM_001191059.4:c.913G>A, NM_001191059.3:c.913G>A, NM_001191059.2:c.913G>A, NM_001191059.1:c.913G>A, NM_001191057.4:c.913G>A, NM_001191057.3:c.913G>A, NM_001191057.2:c.913G>A, NM_001191057.1:c.913G>A, NM_001191056.3:c.913G>A, NM_001191056.2:c.913G>A, NM_001191056.1:c.913G>A, NM_001322058.2:c.1093G>A, NM_001322058.1:c.1093G>A, NM_001322059.2:c.1318G>A, NM_001322059.1:c.1318G>A, NM_001322057.2:c.913G>A, NM_001322057.1:c.913G>A, NM_001322056.2:c.913G>A, NM_001322056.1:c.913G>A, NM_001322055.2:c.913G>A, NM_001322055.1:c.913G>A, XM_017012266.2:c.1198G>A, XM_017012266.1:c.1198G>A, XM_017012267.2:c.913G>A, XM_017012267.1:c.913G>A, XM_047420445.1:c.574G>A, XM_047420446.1:c.574G>A, XM_047420444.1:c.913G>A, XM_047420440.1:c.913G>A, XM_017012264.1:c.1198G>A, XM_017012265.1:c.1033G>A, XR_007060043.1:n.1382G>A, XR_007060041.1:n.1213G>A, XR_001744803.1:n.1213G>A, XM_047420441.1:c.913G>A, XM_047420443.1:c.913G>A, XR_001744802.1:n.1213G>A, XM_047420442.1:c.913G>A, XR_007060042.1:n.965G>A, XR_007060044.1:n.965G>A, NP_005011.1:p.Ala305Thr, NP_001177987.2:p.Ala365Thr, NP_001177988.1:p.Ala305Thr, NP_001177986.1:p.Ala305Thr, NP_001177985.1:p.Ala305Thr, NP_001308987.1:p.Ala365Thr, NP_001308988.1:p.Ala440Thr, NP_001308986.1:p.Ala305Thr, NP_001308985.1:p.Ala305Thr, NP_001308984.1:p.Ala305Thr, XP_016867755.1:p.Ala400Thr, XP_016867756.1:p.Ala305Thr, XP_047276401.1:p.Ala192Thr, XP_047276402.1:p.Ala192Thr, XP_047276400.1:p.Ala305Thr, XP_047276396.1:p.Ala305Thr, XP_016867753.1:p.Ala400Thr, XP_016867754.1:p.Ala345Thr, XP_047276397.1:p.Ala305Thr, XP_047276399.1:p.Ala305Thr, XP_047276398.1:p.Ala305Thr

                    10.

                    rs1479071758 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      7:31823164 (GRCh38)
                      7:31862778 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:31823163:A:C
                      Gene:
                      PDE1C (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000007.14:g.31823164A>C, NC_000007.13:g.31862778A>C, NG_051183.1:g.610061T>G, NM_005020.5:c.1491T>G, NM_005020.4:c.1491T>G, NM_005020.3:c.1491T>G, NM_005020.2:c.1491T>G, NM_001191058.4:c.1671T>G, NM_001191058.3:c.1671T>G, NM_001191058.2:c.1671T>G, NM_001191058.1:c.1671T>G, NM_001191059.4:c.1491T>G, NM_001191059.3:c.1491T>G, NM_001191059.2:c.1491T>G, NM_001191059.1:c.1491T>G, NM_001191057.4:c.1491T>G, NM_001191057.3:c.1491T>G, NM_001191057.2:c.1491T>G, NM_001191057.1:c.1491T>G, NM_001191056.3:c.1491T>G, NM_001191056.2:c.1491T>G, NM_001191056.1:c.1491T>G, NM_001322058.2:c.1671T>G, NM_001322058.1:c.1671T>G, NM_001322059.2:c.1896T>G, NM_001322059.1:c.1896T>G, NM_001322057.2:c.1491T>G, NM_001322057.1:c.1491T>G, NM_001322056.2:c.1491T>G, NM_001322056.1:c.1491T>G, NM_001322055.2:c.1491T>G, NM_001322055.1:c.1491T>G, XM_017012266.2:c.1776T>G, XM_017012266.1:c.1776T>G, XM_017012267.2:c.1491T>G, XM_017012267.1:c.1491T>G, XM_047420445.1:c.1152T>G, XM_047420446.1:c.1152T>G, XM_047420444.1:c.1491T>G, XM_047420440.1:c.1491T>G, XM_017012264.1:c.1776T>G, XM_017012265.1:c.1611T>G, XR_007060043.1:n.1960T>G, XR_007060041.1:n.1791T>G, XR_001744803.1:n.1791T>G, XM_047420441.1:c.1491T>G, XM_047420443.1:c.1491T>G, XR_001744802.1:n.1791T>G, XM_047420442.1:c.1491T>G, XR_007060042.1:n.1543T>G, XR_007060044.1:n.1543T>G

                      11.

                      rs1478570922 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:31815996 (GRCh38)
                        7:31855610 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:31815995:C:T
                        Gene:
                        PDE1C (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000007.14:g.31815996C>T, NC_000007.13:g.31855610C>T, NG_051183.1:g.617229G>A, NM_005020.5:c.1741G>A, NM_005020.4:c.1741G>A, NM_005020.3:c.1741G>A, NM_005020.2:c.1741G>A, NM_001191058.4:c.1921G>A, NM_001191058.3:c.1921G>A, NM_001191058.2:c.1921G>A, NM_001191058.1:c.1921G>A, NM_001191059.4:c.1741G>A, NM_001191059.3:c.1741G>A, NM_001191059.2:c.1741G>A, NM_001191059.1:c.1741G>A, NM_001191057.4:c.1741G>A, NM_001191057.3:c.1741G>A, NM_001191057.2:c.1741G>A, NM_001191057.1:c.1741G>A, NM_001191056.3:c.1741G>A, NM_001191056.2:c.1741G>A, NM_001191056.1:c.1741G>A, NM_001322058.2:c.1921G>A, NM_001322058.1:c.1921G>A, NM_001322059.2:c.2146G>A, NM_001322059.1:c.2146G>A, NM_001322057.2:c.1741G>A, NM_001322057.1:c.1741G>A, NM_001322056.2:c.1741G>A, NM_001322056.1:c.1741G>A, NM_001322055.2:c.1741G>A, NM_001322055.1:c.1741G>A, XM_017012266.2:c.2026G>A, XM_017012266.1:c.2026G>A, XM_017012267.2:c.1741G>A, XM_017012267.1:c.1741G>A, XM_047420445.1:c.1402G>A, XM_047420446.1:c.1402G>A, XM_047420444.1:c.1741G>A, XM_047420440.1:c.1741G>A, XM_017012264.1:c.2026G>A, XM_017012265.1:c.1861G>A, XR_007060043.1:n.2210G>A, XR_001744803.1:n.2041G>A, XM_047420441.1:c.1741G>A, XM_047420443.1:c.1741G>A, XR_001744802.1:n.2041G>A, XM_047420442.1:c.1741G>A, XR_007060042.1:n.1793G>A, XR_007060044.1:n.1793G>A, NP_005011.1:p.Ala581Thr, NP_001177987.2:p.Ala641Thr, NP_001177988.1:p.Ala581Thr, NP_001177986.1:p.Ala581Thr, NP_001177985.1:p.Ala581Thr, NP_001308987.1:p.Ala641Thr, NP_001308988.1:p.Ala716Thr, NP_001308986.1:p.Ala581Thr, NP_001308985.1:p.Ala581Thr, NP_001308984.1:p.Ala581Thr, XP_016867755.1:p.Ala676Thr, XP_016867756.1:p.Ala581Thr, XP_047276401.1:p.Ala468Thr, XP_047276402.1:p.Ala468Thr, XP_047276400.1:p.Ala581Thr, XP_047276396.1:p.Ala581Thr, XP_016867753.1:p.Ala676Thr, XP_016867754.1:p.Ala621Thr, XP_047276397.1:p.Ala581Thr, XP_047276399.1:p.Ala581Thr, XP_047276398.1:p.Ala581Thr

                        12.

                        rs1478296831 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          7:31809081 (GRCh38)
                          7:31848695 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:31809080:G:C
                          Gene:
                          PDE1C (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.31809081G>C, NC_000007.13:g.31848695G>C, NG_051183.1:g.624144C>G, NM_005020.5:c.1841C>G, NM_005020.4:c.1841C>G, NM_005020.3:c.1841C>G, NM_005020.2:c.1841C>G, NM_001191058.4:c.2021C>G, NM_001191058.3:c.2021C>G, NM_001191058.2:c.2021C>G, NM_001191058.1:c.2021C>G, NM_001191059.4:c.1841C>G, NM_001191059.3:c.1841C>G, NM_001191059.2:c.1841C>G, NM_001191059.1:c.1841C>G, NM_001191057.4:c.1841C>G, NM_001191057.3:c.1841C>G, NM_001191057.2:c.1841C>G, NM_001191057.1:c.1841C>G, NM_001191056.3:c.1841C>G, NM_001191056.2:c.1841C>G, NM_001191056.1:c.1841C>G, NM_001322058.2:c.2021C>G, NM_001322058.1:c.2021C>G, NM_001322059.2:c.2246C>G, NM_001322059.1:c.2246C>G, NM_001322057.2:c.1841C>G, NM_001322057.1:c.1841C>G, NM_001322056.2:c.1841C>G, NM_001322056.1:c.1841C>G, NM_001322055.2:c.1841C>G, NM_001322055.1:c.1841C>G, XM_017012266.2:c.2126C>G, XM_017012266.1:c.2126C>G, XM_017012267.2:c.1841C>G, XM_017012267.1:c.1841C>G, XM_047420445.1:c.1502C>G, XM_047420446.1:c.1502C>G, XM_047420444.1:c.1841C>G, XM_047420440.1:c.1841C>G, XM_017012264.1:c.2126C>G, XM_017012265.1:c.1961C>G, XR_007060043.1:n.2310C>G, XR_001744803.1:n.2141C>G, XM_047420441.1:c.1841C>G, XM_047420443.1:c.1841C>G, XR_001744802.1:n.2141C>G, XM_047420442.1:c.1841C>G, XR_007060042.1:n.1893C>G, XR_007060044.1:n.1893C>G, NP_005011.1:p.Thr614Arg, NP_001177987.2:p.Thr674Arg, NP_001177988.1:p.Thr614Arg, NP_001177986.1:p.Thr614Arg, NP_001177985.1:p.Thr614Arg, NP_001308987.1:p.Thr674Arg, NP_001308988.1:p.Thr749Arg, NP_001308986.1:p.Thr614Arg, NP_001308985.1:p.Thr614Arg, NP_001308984.1:p.Thr614Arg, XP_016867755.1:p.Thr709Arg, XP_016867756.1:p.Thr614Arg, XP_047276401.1:p.Thr501Arg, XP_047276402.1:p.Thr501Arg, XP_047276400.1:p.Thr614Arg, XP_047276396.1:p.Thr614Arg, XP_016867753.1:p.Thr709Arg, XP_016867754.1:p.Thr654Arg, XP_047276397.1:p.Thr614Arg, XP_047276399.1:p.Thr614Arg, XP_047276398.1:p.Thr614Arg

                          13.

                          rs1477802969 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:31848011 (GRCh38)
                            7:31887625 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:31848010:C:T
                            Gene:
                            PDE1C (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000007.14:g.31848011C>T, NC_000007.13:g.31887625C>T, NG_051183.1:g.585214G>A, NM_005020.5:c.937G>A, NM_005020.4:c.937G>A, NM_005020.3:c.937G>A, NM_005020.2:c.937G>A, NM_001191058.4:c.1117G>A, NM_001191058.3:c.1117G>A, NM_001191058.2:c.1117G>A, NM_001191058.1:c.1117G>A, NM_001191059.4:c.937G>A, NM_001191059.3:c.937G>A, NM_001191059.2:c.937G>A, NM_001191059.1:c.937G>A, NM_001191057.4:c.937G>A, NM_001191057.3:c.937G>A, NM_001191057.2:c.937G>A, NM_001191057.1:c.937G>A, NM_001191056.3:c.937G>A, NM_001191056.2:c.937G>A, NM_001191056.1:c.937G>A, NM_001322058.2:c.1117G>A, NM_001322058.1:c.1117G>A, NM_001322059.2:c.1342G>A, NM_001322059.1:c.1342G>A, NM_001322057.2:c.937G>A, NM_001322057.1:c.937G>A, NM_001322056.2:c.937G>A, NM_001322056.1:c.937G>A, NM_001322055.2:c.937G>A, NM_001322055.1:c.937G>A, XM_017012266.2:c.1222G>A, XM_017012266.1:c.1222G>A, XM_017012267.2:c.937G>A, XM_017012267.1:c.937G>A, XM_047420445.1:c.598G>A, XM_047420446.1:c.598G>A, XM_047420444.1:c.937G>A, XM_047420440.1:c.937G>A, XM_017012264.1:c.1222G>A, XM_017012265.1:c.1057G>A, XR_007060043.1:n.1406G>A, XR_007060041.1:n.1237G>A, XR_001744803.1:n.1237G>A, XM_047420441.1:c.937G>A, XM_047420443.1:c.937G>A, XR_001744802.1:n.1237G>A, XM_047420442.1:c.937G>A, XR_007060042.1:n.989G>A, XR_007060044.1:n.989G>A, NP_005011.1:p.Glu313Lys, NP_001177987.2:p.Glu373Lys, NP_001177988.1:p.Glu313Lys, NP_001177986.1:p.Glu313Lys, NP_001177985.1:p.Glu313Lys, NP_001308987.1:p.Glu373Lys, NP_001308988.1:p.Glu448Lys, NP_001308986.1:p.Glu313Lys, NP_001308985.1:p.Glu313Lys, NP_001308984.1:p.Glu313Lys, XP_016867755.1:p.Glu408Lys, XP_016867756.1:p.Glu313Lys, XP_047276401.1:p.Glu200Lys, XP_047276402.1:p.Glu200Lys, XP_047276400.1:p.Glu313Lys, XP_047276396.1:p.Glu313Lys, XP_016867753.1:p.Glu408Lys, XP_016867754.1:p.Glu353Lys, XP_047276397.1:p.Glu313Lys, XP_047276399.1:p.Glu313Lys, XP_047276398.1:p.Glu313Lys

                            14.

                            rs1475402101 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              7:31809085 (GRCh38)
                              7:31848699 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:31809084:T:C
                              Gene:
                              PDE1C (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000007.14:g.31809085T>C, NC_000007.13:g.31848699T>C, NG_051183.1:g.624140A>G, NM_005020.5:c.1837A>G, NM_005020.4:c.1837A>G, NM_005020.3:c.1837A>G, NM_005020.2:c.1837A>G, NM_001191058.4:c.2017A>G, NM_001191058.3:c.2017A>G, NM_001191058.2:c.2017A>G, NM_001191058.1:c.2017A>G, NM_001191059.4:c.1837A>G, NM_001191059.3:c.1837A>G, NM_001191059.2:c.1837A>G, NM_001191059.1:c.1837A>G, NM_001191057.4:c.1837A>G, NM_001191057.3:c.1837A>G, NM_001191057.2:c.1837A>G, NM_001191057.1:c.1837A>G, NM_001191056.3:c.1837A>G, NM_001191056.2:c.1837A>G, NM_001191056.1:c.1837A>G, NM_001322058.2:c.2017A>G, NM_001322058.1:c.2017A>G, NM_001322059.2:c.2242A>G, NM_001322059.1:c.2242A>G, NM_001322057.2:c.1837A>G, NM_001322057.1:c.1837A>G, NM_001322056.2:c.1837A>G, NM_001322056.1:c.1837A>G, NM_001322055.2:c.1837A>G, NM_001322055.1:c.1837A>G, XM_017012266.2:c.2122A>G, XM_017012266.1:c.2122A>G, XM_017012267.2:c.1837A>G, XM_017012267.1:c.1837A>G, XM_047420445.1:c.1498A>G, XM_047420446.1:c.1498A>G, XM_047420444.1:c.1837A>G, XM_047420440.1:c.1837A>G, XM_017012264.1:c.2122A>G, XM_017012265.1:c.1957A>G, XR_007060043.1:n.2306A>G, XR_001744803.1:n.2137A>G, XM_047420441.1:c.1837A>G, XM_047420443.1:c.1837A>G, XR_001744802.1:n.2137A>G, XM_047420442.1:c.1837A>G, XR_007060042.1:n.1889A>G, XR_007060044.1:n.1889A>G, NP_005011.1:p.Lys613Glu, NP_001177987.2:p.Lys673Glu, NP_001177988.1:p.Lys613Glu, NP_001177986.1:p.Lys613Glu, NP_001177985.1:p.Lys613Glu, NP_001308987.1:p.Lys673Glu, NP_001308988.1:p.Lys748Glu, NP_001308986.1:p.Lys613Glu, NP_001308985.1:p.Lys613Glu, NP_001308984.1:p.Lys613Glu, XP_016867755.1:p.Lys708Glu, XP_016867756.1:p.Lys613Glu, XP_047276401.1:p.Lys500Glu, XP_047276402.1:p.Lys500Glu, XP_047276400.1:p.Lys613Glu, XP_047276396.1:p.Lys613Glu, XP_016867753.1:p.Lys708Glu, XP_016867754.1:p.Lys653Glu, XP_047276397.1:p.Lys613Glu, XP_047276399.1:p.Lys613Glu, XP_047276398.1:p.Lys613Glu

                              15.

                              rs1472505549 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                C>- [Show Flanks]
                                Chromosome:
                                7:32070319 (GRCh38)
                                7:32109931 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:32070318:C:
                                Gene:
                                PDE1C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,frameshift_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.000094/1 (ALFA)
                                -=0.000004/1 (GnomAD_exomes)
                                -=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000007.14:g.32070319del, NC_000007.13:g.32109931del, NG_051183.1:g.362906del, NM_005020.5:c.75del, NM_005020.4:c.75del, NM_005020.3:c.75del, NM_005020.2:c.75del, NM_001191059.4:c.75del, NM_001191059.3:c.75del, NM_001191059.2:c.75del, NM_001191059.1:c.75del, NM_001191057.4:c.75del, NM_001191057.3:c.75del, NM_001191057.2:c.75del, NM_001191057.1:c.75del, NM_001191056.3:c.75del, NM_001191056.2:c.75del, NM_001191056.1:c.75del, NM_001322057.2:c.75del, NM_001322057.1:c.75del, NM_001322056.2:c.75del, NM_001322056.1:c.75del, NM_001322055.2:c.75del, NM_001322055.1:c.75del, XM_017012267.2:c.75del, XM_017012267.1:c.75del, XM_047420444.1:c.75del, XM_047420440.1:c.75del, XR_007060043.1:n.544del, XM_047420441.1:c.75del, XM_047420443.1:c.75del, XM_047420442.1:c.75del, XR_007060042.1:n.127del, XR_007060044.1:n.127del, NP_005011.1:p.Ile27fs, NP_001177988.1:p.Ile27fs, NP_001177986.1:p.Ile27fs, NP_001177985.1:p.Ile27fs, NP_001308986.1:p.Ile27fs, NP_001308985.1:p.Ile27fs, NP_001308984.1:p.Ile27fs, XP_016867756.1:p.Ile27fs, XP_047276400.1:p.Ile27fs, XP_047276396.1:p.Ile27fs, XP_047276397.1:p.Ile27fs, XP_047276399.1:p.Ile27fs, XP_047276398.1:p.Ile27fs

                                16.

                                rs1469612926 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  7:31816134 (GRCh38)
                                  7:31855748 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:31816133:C:T
                                  Gene:
                                  PDE1C (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.31816134C>T, NC_000007.13:g.31855748C>T, NG_051183.1:g.617091G>A, NM_005020.5:c.1603G>A, NM_005020.4:c.1603G>A, NM_005020.3:c.1603G>A, NM_005020.2:c.1603G>A, NM_001191058.4:c.1783G>A, NM_001191058.3:c.1783G>A, NM_001191058.2:c.1783G>A, NM_001191058.1:c.1783G>A, NM_001191059.4:c.1603G>A, NM_001191059.3:c.1603G>A, NM_001191059.2:c.1603G>A, NM_001191059.1:c.1603G>A, NM_001191057.4:c.1603G>A, NM_001191057.3:c.1603G>A, NM_001191057.2:c.1603G>A, NM_001191057.1:c.1603G>A, NM_001191056.3:c.1603G>A, NM_001191056.2:c.1603G>A, NM_001191056.1:c.1603G>A, NM_001322058.2:c.1783G>A, NM_001322058.1:c.1783G>A, NM_001322059.2:c.2008G>A, NM_001322059.1:c.2008G>A, NM_001322057.2:c.1603G>A, NM_001322057.1:c.1603G>A, NM_001322056.2:c.1603G>A, NM_001322056.1:c.1603G>A, NM_001322055.2:c.1603G>A, NM_001322055.1:c.1603G>A, XM_017012266.2:c.1888G>A, XM_017012266.1:c.1888G>A, XM_017012267.2:c.1603G>A, XM_017012267.1:c.1603G>A, XM_047420445.1:c.1264G>A, XM_047420446.1:c.1264G>A, XM_047420444.1:c.1603G>A, XM_047420440.1:c.1603G>A, XM_017012264.1:c.1888G>A, XM_017012265.1:c.1723G>A, XR_007060043.1:n.2072G>A, XR_007060041.1:n.2921G>A, XR_001744803.1:n.1903G>A, XM_047420441.1:c.1603G>A, XM_047420443.1:c.1603G>A, XR_001744802.1:n.1903G>A, XM_047420442.1:c.1603G>A, XR_007060042.1:n.1655G>A, XR_007060044.1:n.1655G>A, NP_005011.1:p.Ala535Thr, NP_001177987.2:p.Ala595Thr, NP_001177988.1:p.Ala535Thr, NP_001177986.1:p.Ala535Thr, NP_001177985.1:p.Ala535Thr, NP_001308987.1:p.Ala595Thr, NP_001308988.1:p.Ala670Thr, NP_001308986.1:p.Ala535Thr, NP_001308985.1:p.Ala535Thr, NP_001308984.1:p.Ala535Thr, XP_016867755.1:p.Ala630Thr, XP_016867756.1:p.Ala535Thr, XP_047276401.1:p.Ala422Thr, XP_047276402.1:p.Ala422Thr, XP_047276400.1:p.Ala535Thr, XP_047276396.1:p.Ala535Thr, XP_016867753.1:p.Ala630Thr, XP_016867754.1:p.Ala575Thr, XP_047276397.1:p.Ala535Thr, XP_047276399.1:p.Ala535Thr, XP_047276398.1:p.Ala535Thr

                                  17.

                                  rs1467848571 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    7:32070371 (GRCh38)
                                    7:32109983 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:32070370:A:G
                                    Gene:
                                    PDE1C (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000029/4 (GnomAD)
                                    G=0.000034/9 (TOPMED)
                                    HGVS:
                                    NC_000007.14:g.32070371A>G, NC_000007.13:g.32109983A>G, NG_051183.1:g.362854T>C, NM_005020.5:c.23T>C, NM_005020.4:c.23T>C, NM_005020.3:c.23T>C, NM_005020.2:c.23T>C, NM_001191059.4:c.23T>C, NM_001191059.3:c.23T>C, NM_001191059.2:c.23T>C, NM_001191059.1:c.23T>C, NM_001191057.4:c.23T>C, NM_001191057.3:c.23T>C, NM_001191057.2:c.23T>C, NM_001191057.1:c.23T>C, NM_001191056.3:c.23T>C, NM_001191056.2:c.23T>C, NM_001191056.1:c.23T>C, NM_001322057.2:c.23T>C, NM_001322057.1:c.23T>C, NM_001322056.2:c.23T>C, NM_001322056.1:c.23T>C, NM_001322055.2:c.23T>C, NM_001322055.1:c.23T>C, XM_017012267.2:c.23T>C, XM_017012267.1:c.23T>C, XM_047420444.1:c.23T>C, XM_047420440.1:c.23T>C, XR_007060043.1:n.492T>C, XM_047420441.1:c.23T>C, XM_047420443.1:c.23T>C, XM_047420442.1:c.23T>C, XR_007060042.1:n.75T>C, XR_007060044.1:n.75T>C, NP_005011.1:p.Ile8Thr, NP_001177988.1:p.Ile8Thr, NP_001177986.1:p.Ile8Thr, NP_001177985.1:p.Ile8Thr, NP_001308986.1:p.Ile8Thr, NP_001308985.1:p.Ile8Thr, NP_001308984.1:p.Ile8Thr, XP_016867756.1:p.Ile8Thr, XP_047276400.1:p.Ile8Thr, XP_047276396.1:p.Ile8Thr, XP_047276397.1:p.Ile8Thr, XP_047276399.1:p.Ile8Thr, XP_047276398.1:p.Ile8Thr

                                    18.

                                    rs1466217534 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:31823210 (GRCh38)
                                      7:31862824 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:31823209:C:T
                                      Gene:
                                      PDE1C (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      T=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000007.14:g.31823210C>T, NC_000007.13:g.31862824C>T, NG_051183.1:g.610015G>A, NM_005020.5:c.1445G>A, NM_005020.4:c.1445G>A, NM_005020.3:c.1445G>A, NM_005020.2:c.1445G>A, NM_001191058.4:c.1625G>A, NM_001191058.3:c.1625G>A, NM_001191058.2:c.1625G>A, NM_001191058.1:c.1625G>A, NM_001191059.4:c.1445G>A, NM_001191059.3:c.1445G>A, NM_001191059.2:c.1445G>A, NM_001191059.1:c.1445G>A, NM_001191057.4:c.1445G>A, NM_001191057.3:c.1445G>A, NM_001191057.2:c.1445G>A, NM_001191057.1:c.1445G>A, NM_001191056.3:c.1445G>A, NM_001191056.2:c.1445G>A, NM_001191056.1:c.1445G>A, NM_001322058.2:c.1625G>A, NM_001322058.1:c.1625G>A, NM_001322059.2:c.1850G>A, NM_001322059.1:c.1850G>A, NM_001322057.2:c.1445G>A, NM_001322057.1:c.1445G>A, NM_001322056.2:c.1445G>A, NM_001322056.1:c.1445G>A, NM_001322055.2:c.1445G>A, NM_001322055.1:c.1445G>A, XM_017012266.2:c.1730G>A, XM_017012266.1:c.1730G>A, XM_017012267.2:c.1445G>A, XM_017012267.1:c.1445G>A, XM_047420445.1:c.1106G>A, XM_047420446.1:c.1106G>A, XM_047420444.1:c.1445G>A, XM_047420440.1:c.1445G>A, XM_017012264.1:c.1730G>A, XM_017012265.1:c.1565G>A, XR_007060043.1:n.1914G>A, XR_007060041.1:n.1745G>A, XR_001744803.1:n.1745G>A, XM_047420441.1:c.1445G>A, XM_047420443.1:c.1445G>A, XR_001744802.1:n.1745G>A, XM_047420442.1:c.1445G>A, XR_007060042.1:n.1497G>A, XR_007060044.1:n.1497G>A, NP_005011.1:p.Gly482Asp, NP_001177987.2:p.Gly542Asp, NP_001177988.1:p.Gly482Asp, NP_001177986.1:p.Gly482Asp, NP_001177985.1:p.Gly482Asp, NP_001308987.1:p.Gly542Asp, NP_001308988.1:p.Gly617Asp, NP_001308986.1:p.Gly482Asp, NP_001308985.1:p.Gly482Asp, NP_001308984.1:p.Gly482Asp, XP_016867755.1:p.Gly577Asp, XP_016867756.1:p.Gly482Asp, XP_047276401.1:p.Gly369Asp, XP_047276402.1:p.Gly369Asp, XP_047276400.1:p.Gly482Asp, XP_047276396.1:p.Gly482Asp, XP_016867753.1:p.Gly577Asp, XP_016867754.1:p.Gly522Asp, XP_047276397.1:p.Gly482Asp, XP_047276399.1:p.Gly482Asp, XP_047276398.1:p.Gly482Asp

                                      19.

                                      rs1462839750 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        7:31865050 (GRCh38)
                                        7:31904664 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:31865049:C:A
                                        Gene:
                                        PDE1C (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        A=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.31865050C>A, NC_000007.13:g.31904664C>A, NG_051183.1:g.568175G>T, NM_005020.5:c.642G>T, NM_005020.4:c.642G>T, NM_005020.3:c.642G>T, NM_005020.2:c.642G>T, NM_001191058.4:c.822G>T, NM_001191058.3:c.822G>T, NM_001191058.2:c.822G>T, NM_001191058.1:c.822G>T, NM_001191059.4:c.642G>T, NM_001191059.3:c.642G>T, NM_001191059.2:c.642G>T, NM_001191059.1:c.642G>T, NM_001191057.4:c.642G>T, NM_001191057.3:c.642G>T, NM_001191057.2:c.642G>T, NM_001191057.1:c.642G>T, NM_001191056.3:c.642G>T, NM_001191056.2:c.642G>T, NM_001191056.1:c.642G>T, NM_001322058.2:c.822G>T, NM_001322058.1:c.822G>T, NM_001322059.2:c.1047G>T, NM_001322059.1:c.1047G>T, NM_001322057.2:c.642G>T, NM_001322057.1:c.642G>T, NM_001322056.2:c.642G>T, NM_001322056.1:c.642G>T, NM_001322055.2:c.642G>T, NM_001322055.1:c.642G>T, XM_017012266.2:c.927G>T, XM_017012266.1:c.927G>T, XM_017012267.2:c.642G>T, XM_017012267.1:c.642G>T, XM_047420445.1:c.303G>T, XM_047420446.1:c.303G>T, XM_047420444.1:c.642G>T, XM_047420440.1:c.642G>T, XM_017012264.1:c.927G>T, XM_017012265.1:c.762G>T, XR_007060043.1:n.1111G>T, XR_007060041.1:n.942G>T, XR_001744803.1:n.942G>T, XM_047420441.1:c.642G>T, XM_047420443.1:c.642G>T, XR_001744802.1:n.942G>T, XM_047420442.1:c.642G>T, XR_007060042.1:n.694G>T, XR_007060044.1:n.694G>T, NP_005011.1:p.Glu214Asp, NP_001177987.2:p.Glu274Asp, NP_001177988.1:p.Glu214Asp, NP_001177986.1:p.Glu214Asp, NP_001177985.1:p.Glu214Asp, NP_001308987.1:p.Glu274Asp, NP_001308988.1:p.Glu349Asp, NP_001308986.1:p.Glu214Asp, NP_001308985.1:p.Glu214Asp, NP_001308984.1:p.Glu214Asp, XP_016867755.1:p.Glu309Asp, XP_016867756.1:p.Glu214Asp, XP_047276401.1:p.Glu101Asp, XP_047276402.1:p.Glu101Asp, XP_047276400.1:p.Glu214Asp, XP_047276396.1:p.Glu214Asp, XP_016867753.1:p.Glu309Asp, XP_016867754.1:p.Glu254Asp, XP_047276397.1:p.Glu214Asp, XP_047276399.1:p.Glu214Asp, XP_047276398.1:p.Glu214Asp

                                        20.

                                        rs1461316333 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          7:31816061 (GRCh38)
                                          7:31855675 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:31816060:C:T
                                          Gene:
                                          PDE1C (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000007.14:g.31816061C>T, NC_000007.13:g.31855675C>T, NG_051183.1:g.617164G>A, NM_005020.5:c.1676G>A, NM_005020.4:c.1676G>A, NM_005020.3:c.1676G>A, NM_005020.2:c.1676G>A, NM_001191058.4:c.1856G>A, NM_001191058.3:c.1856G>A, NM_001191058.2:c.1856G>A, NM_001191058.1:c.1856G>A, NM_001191059.4:c.1676G>A, NM_001191059.3:c.1676G>A, NM_001191059.2:c.1676G>A, NM_001191059.1:c.1676G>A, NM_001191057.4:c.1676G>A, NM_001191057.3:c.1676G>A, NM_001191057.2:c.1676G>A, NM_001191057.1:c.1676G>A, NM_001191056.3:c.1676G>A, NM_001191056.2:c.1676G>A, NM_001191056.1:c.1676G>A, NM_001322058.2:c.1856G>A, NM_001322058.1:c.1856G>A, NM_001322059.2:c.2081G>A, NM_001322059.1:c.2081G>A, NM_001322057.2:c.1676G>A, NM_001322057.1:c.1676G>A, NM_001322056.2:c.1676G>A, NM_001322056.1:c.1676G>A, NM_001322055.2:c.1676G>A, NM_001322055.1:c.1676G>A, XM_017012266.2:c.1961G>A, XM_017012266.1:c.1961G>A, XM_017012267.2:c.1676G>A, XM_017012267.1:c.1676G>A, XM_047420445.1:c.1337G>A, XM_047420446.1:c.1337G>A, XM_047420444.1:c.1676G>A, XM_047420440.1:c.1676G>A, XM_017012264.1:c.1961G>A, XM_017012265.1:c.1796G>A, XR_007060043.1:n.2145G>A, XR_007060041.1:n.2994G>A, XR_001744803.1:n.1976G>A, XM_047420441.1:c.1676G>A, XM_047420443.1:c.1676G>A, XR_001744802.1:n.1976G>A, XM_047420442.1:c.1676G>A, XR_007060042.1:n.1728G>A, XR_007060044.1:n.1728G>A, NP_005011.1:p.Gly559Asp, NP_001177987.2:p.Gly619Asp, NP_001177988.1:p.Gly559Asp, NP_001177986.1:p.Gly559Asp, NP_001177985.1:p.Gly559Asp, NP_001308987.1:p.Gly619Asp, NP_001308988.1:p.Gly694Asp, NP_001308986.1:p.Gly559Asp, NP_001308985.1:p.Gly559Asp, NP_001308984.1:p.Gly559Asp, XP_016867755.1:p.Gly654Asp, XP_016867756.1:p.Gly559Asp, XP_047276401.1:p.Gly446Asp, XP_047276402.1:p.Gly446Asp, XP_047276400.1:p.Gly559Asp, XP_047276396.1:p.Gly559Asp, XP_016867753.1:p.Gly654Asp, XP_016867754.1:p.Gly599Asp, XP_047276397.1:p.Gly559Asp, XP_047276399.1:p.Gly559Asp, XP_047276398.1:p.Gly559Asp

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