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Items: 1 to 20 of 923

1.

rs1491070146 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->T [Show Flanks]
    Chromosome:
    14:101927821 (GRCh38)
    14:102394159 (GRCh37)
    Canonical SPDI:
    NC_000014.9:101927821:TTTTTT:TTTTTTT
    Gene:
    PPP2R5C (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa
    MAF:
    TTTTTTT=0./0 (ALFA)
    T=0.000014/2 (GnomAD)
    HGVS:
    NC_000014.9:g.101927827dup, NC_000014.8:g.102394164dup, NG_047069.1:g.172255dup, NM_002719.4:c.*2555dup, NM_002719.3:c.*2555dup, NM_178586.3:c.*2555dup, NM_178586.2:c.*2555dup, NM_001352913.2:c.*2555dup, NM_001352913.1:c.*2555dup, NM_001161725.2:c.*2555dup, NM_001161725.1:c.*2555dup, NM_001161726.2:c.*2555dup, NM_001161726.1:c.*2555dup, NM_001352914.2:c.*2555dup, NM_001352914.1:c.*2555dup, NM_001352916.2:c.*2555dup, NM_001352916.1:c.*2555dup, NM_001352915.2:c.*2555dup, NM_001352915.1:c.*2555dup, NM_001352912.1:c.*2555dup, XM_017021423.3:c.*2500dup, XM_017021423.2:c.*2500dup, XM_017021423.1:c.*2500dup, XM_011536918.2:c.*2555dup, XM_011536918.1:c.*2555dup, XM_005267819.2:c.*2555dup, XM_005267819.1:c.*2555dup, XM_005267826.2:c.*2555dup, XM_005267826.1:c.*2555dup, XM_011536920.2:c.*2555dup, XM_011536920.1:c.*2555dup, XM_005267827.2:c.*2555dup, XM_005267827.1:c.*2555dup, XM_005267824.2:c.*2500dup, XM_005267824.1:c.*2500dup, XM_047431536.1:c.*2555dup, XM_047431537.1:c.*2555dup, XM_047431539.1:c.*2555dup, XM_047431538.1:c.*2555dup, XM_047431532.1:c.*2555dup, XM_047431531.1:c.*2555dup, XM_047431530.1:c.*2555dup, XM_047431535.1:c.*2500dup, XM_047431533.1:c.*2555dup, XM_047431541.1:c.*2555dup, XM_047431534.1:c.*2500dup, XM_047431540.1:c.*2555dup

    2.

    rs1490713839 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      14:101926957 (GRCh38)
      14:102393294 (GRCh37)
      Canonical SPDI:
      NC_000014.9:101926956:G:A,NC_000014.9:101926956:G:C
      Gene:
      PPP2R5C (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.000224/1 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000223/1 (Estonian)
      HGVS:
      NC_000014.9:g.101926957G>A, NC_000014.9:g.101926957G>C, NC_000014.8:g.102393294G>A, NC_000014.8:g.102393294G>C, NG_047069.1:g.171385G>A, NG_047069.1:g.171385G>C, NM_002719.4:c.*1685G>A, NM_002719.4:c.*1685G>C, NM_002719.3:c.*1685G>A, NM_002719.3:c.*1685G>C, NM_178586.3:c.*1685G>A, NM_178586.3:c.*1685G>C, NM_178586.2:c.*1685G>A, NM_178586.2:c.*1685G>C, NM_001352913.2:c.*1685G>A, NM_001352913.2:c.*1685G>C, NM_001352913.1:c.*1685G>A, NM_001352913.1:c.*1685G>C, NM_001161725.2:c.*1685G>A, NM_001161725.2:c.*1685G>C, NM_001161725.1:c.*1685G>A, NM_001161725.1:c.*1685G>C, NM_001161726.2:c.*1685G>A, NM_001161726.2:c.*1685G>C, NM_001161726.1:c.*1685G>A, NM_001161726.1:c.*1685G>C, NM_001352914.2:c.*1685G>A, NM_001352914.2:c.*1685G>C, NM_001352914.1:c.*1685G>A, NM_001352914.1:c.*1685G>C, NM_001352916.2:c.*1685G>A, NM_001352916.2:c.*1685G>C, NM_001352916.1:c.*1685G>A, NM_001352916.1:c.*1685G>C, NM_001352915.2:c.*1685G>A, NM_001352915.2:c.*1685G>C, NM_001352915.1:c.*1685G>A, NM_001352915.1:c.*1685G>C, NM_001352912.1:c.*1685G>A, NM_001352912.1:c.*1685G>C, XM_017021423.3:c.*1630G>A, XM_017021423.3:c.*1630G>C, XM_017021423.2:c.*1630G>A, XM_017021423.2:c.*1630G>C, XM_017021423.1:c.*1630G>A, XM_017021423.1:c.*1630G>C, XM_011536918.2:c.*1685G>A, XM_011536918.2:c.*1685G>C, XM_011536918.1:c.*1685G>A, XM_011536918.1:c.*1685G>C, XM_005267819.2:c.*1685G>A, XM_005267819.2:c.*1685G>C, XM_005267819.1:c.*1685G>A, XM_005267819.1:c.*1685G>C, XM_005267826.2:c.*1685G>A, XM_005267826.2:c.*1685G>C, XM_005267826.1:c.*1685G>A, XM_005267826.1:c.*1685G>C, XM_011536920.2:c.*1685G>A, XM_011536920.2:c.*1685G>C, XM_011536920.1:c.*1685G>A, XM_011536920.1:c.*1685G>C, XM_005267827.2:c.*1685G>A, XM_005267827.2:c.*1685G>C, XM_005267827.1:c.*1685G>A, XM_005267827.1:c.*1685G>C, XM_005267824.2:c.*1630G>A, XM_005267824.2:c.*1630G>C, XM_005267824.1:c.*1630G>A, XM_005267824.1:c.*1630G>C, XM_047431536.1:c.*1685G>A, XM_047431536.1:c.*1685G>C, XM_047431537.1:c.*1685G>A, XM_047431537.1:c.*1685G>C, XM_047431539.1:c.*1685G>A, XM_047431539.1:c.*1685G>C, XM_047431538.1:c.*1685G>A, XM_047431538.1:c.*1685G>C, XM_047431532.1:c.*1685G>A, XM_047431532.1:c.*1685G>C, XM_047431531.1:c.*1685G>A, XM_047431531.1:c.*1685G>C, XM_047431530.1:c.*1685G>A, XM_047431530.1:c.*1685G>C, XM_047431535.1:c.*1630G>A, XM_047431535.1:c.*1630G>C, XM_047431533.1:c.*1685G>A, XM_047431533.1:c.*1685G>C, XM_047431541.1:c.*1685G>A, XM_047431541.1:c.*1685G>C, XM_047431534.1:c.*1630G>A, XM_047431534.1:c.*1630G>C, XM_047431540.1:c.*1685G>A, XM_047431540.1:c.*1685G>C

      3.

      rs1489847483 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        14:101927210 (GRCh38)
        14:102393547 (GRCh37)
        Canonical SPDI:
        NC_000014.9:101927209:C:T
        Gene:
        PPP2R5C (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,3_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.101927210C>T, NC_000014.8:g.102393547C>T, NG_047069.1:g.171638C>T, NM_002719.4:c.*1938C>T, NM_002719.3:c.*1938C>T, NM_178586.3:c.*1938C>T, NM_178586.2:c.*1938C>T, NM_001352913.2:c.*1938C>T, NM_001352913.1:c.*1938C>T, NM_001161725.2:c.*1938C>T, NM_001161725.1:c.*1938C>T, NM_001161726.2:c.*1938C>T, NM_001161726.1:c.*1938C>T, NM_001352914.2:c.*1938C>T, NM_001352914.1:c.*1938C>T, NM_001352916.2:c.*1938C>T, NM_001352916.1:c.*1938C>T, NM_001352915.2:c.*1938C>T, NM_001352915.1:c.*1938C>T, NM_001352912.1:c.*1938C>T, XM_017021423.3:c.*1883C>T, XM_017021423.2:c.*1883C>T, XM_017021423.1:c.*1883C>T, XM_011536918.2:c.*1938C>T, XM_011536918.1:c.*1938C>T, XM_005267819.2:c.*1938C>T, XM_005267819.1:c.*1938C>T, XM_005267826.2:c.*1938C>T, XM_005267826.1:c.*1938C>T, XM_011536920.2:c.*1938C>T, XM_011536920.1:c.*1938C>T, XM_005267827.2:c.*1938C>T, XM_005267827.1:c.*1938C>T, XM_005267824.2:c.*1883C>T, XM_005267824.1:c.*1883C>T, XM_047431536.1:c.*1938C>T, XM_047431537.1:c.*1938C>T, XM_047431539.1:c.*1938C>T, XM_047431538.1:c.*1938C>T, XM_047431532.1:c.*1938C>T, XM_047431531.1:c.*1938C>T, XM_047431530.1:c.*1938C>T, XM_047431535.1:c.*1883C>T, XM_047431533.1:c.*1938C>T, XM_047431541.1:c.*1938C>T, XM_047431534.1:c.*1883C>T, XM_047431540.1:c.*1938C>T

        4.

        rs1489761178 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          G>- [Show Flanks]
          Chromosome:
          14:101926110 (GRCh38)
          14:102392447 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101926109:GG:G
          Gene:
          PPP2R5C (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          GG=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          NC_000014.9:g.101926111del, NC_000014.8:g.102392448del, NG_047069.1:g.170539del, NM_002719.4:c.*839del, NM_002719.3:c.*839del, NM_178586.3:c.*839del, NM_178586.2:c.*839del, NM_001352913.2:c.*839del, NM_001352913.1:c.*839del, NM_001161725.2:c.*839del, NM_001161725.1:c.*839del, NM_001161726.2:c.*839del, NM_001161726.1:c.*839del, NM_001352914.2:c.*839del, NM_001352914.1:c.*839del, NM_001352916.2:c.*839del, NM_001352916.1:c.*839del, NM_001352915.2:c.*839del, NM_001352915.1:c.*839del, NM_001352912.1:c.*839del, XM_017021423.3:c.*784del, XM_017021423.2:c.*784del, XM_017021423.1:c.*784del, XM_011536918.2:c.*839del, XM_011536918.1:c.*839del, XM_005267819.2:c.*839del, XM_005267819.1:c.*839del, XM_005267826.2:c.*839del, XM_005267826.1:c.*839del, XM_011536920.2:c.*839del, XM_011536920.1:c.*839del, XM_005267827.2:c.*839del, XM_005267827.1:c.*839del, XM_005267824.2:c.*784del, XM_005267824.1:c.*784del, XM_047431536.1:c.*839del, XM_047431537.1:c.*839del, XM_047431539.1:c.*839del, XM_047431538.1:c.*839del, XM_047431532.1:c.*839del, XM_047431531.1:c.*839del, XM_047431530.1:c.*839del, XM_047431535.1:c.*784del, XM_047431533.1:c.*839del, XM_047431541.1:c.*839del, XM_047431534.1:c.*784del, XM_047431540.1:c.*839del

          5.

          rs1489649270 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            14:101927464 (GRCh38)
            14:102393801 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101927463:C:T
            Gene:
            PPP2R5C (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,3_prime_UTR_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_000014.9:g.101927464C>T, NC_000014.8:g.102393801C>T, NG_047069.1:g.171892C>T, NM_002719.4:c.*2192C>T, NM_002719.3:c.*2192C>T, NM_178586.3:c.*2192C>T, NM_178586.2:c.*2192C>T, NM_001352913.2:c.*2192C>T, NM_001352913.1:c.*2192C>T, NM_001161725.2:c.*2192C>T, NM_001161725.1:c.*2192C>T, NM_001161726.2:c.*2192C>T, NM_001161726.1:c.*2192C>T, NM_001352914.2:c.*2192C>T, NM_001352914.1:c.*2192C>T, NM_001352916.2:c.*2192C>T, NM_001352916.1:c.*2192C>T, NM_001352915.2:c.*2192C>T, NM_001352915.1:c.*2192C>T, NM_001352912.1:c.*2192C>T, XM_017021423.3:c.*2137C>T, XM_017021423.2:c.*2137C>T, XM_017021423.1:c.*2137C>T, XM_011536918.2:c.*2192C>T, XM_011536918.1:c.*2192C>T, XM_005267819.2:c.*2192C>T, XM_005267819.1:c.*2192C>T, XM_005267826.2:c.*2192C>T, XM_005267826.1:c.*2192C>T, XM_011536920.2:c.*2192C>T, XM_011536920.1:c.*2192C>T, XM_005267827.2:c.*2192C>T, XM_005267827.1:c.*2192C>T, XM_005267824.2:c.*2137C>T, XM_005267824.1:c.*2137C>T, XM_047431536.1:c.*2192C>T, XM_047431537.1:c.*2192C>T, XM_047431539.1:c.*2192C>T, XM_047431538.1:c.*2192C>T, XM_047431532.1:c.*2192C>T, XM_047431531.1:c.*2192C>T, XM_047431530.1:c.*2192C>T, XM_047431535.1:c.*2137C>T, XM_047431533.1:c.*2192C>T, XM_047431541.1:c.*2192C>T, XM_047431534.1:c.*2137C>T, XM_047431540.1:c.*2192C>T

            6.

            rs1488558378 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              14:101926657 (GRCh38)
              14:102392994 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101926656:T:C
              Gene:
              PPP2R5C (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000015/4 (TOPMED)
              C=0.000029/4 (GnomAD)
              HGVS:
              NC_000014.9:g.101926657T>C, NC_000014.8:g.102392994T>C, NG_047069.1:g.171085T>C, NM_002719.4:c.*1385T>C, NM_002719.3:c.*1385T>C, NM_178586.3:c.*1385T>C, NM_178586.2:c.*1385T>C, NM_001352913.2:c.*1385T>C, NM_001352913.1:c.*1385T>C, NM_001161725.2:c.*1385T>C, NM_001161725.1:c.*1385T>C, NM_001161726.2:c.*1385T>C, NM_001161726.1:c.*1385T>C, NM_001352914.2:c.*1385T>C, NM_001352914.1:c.*1385T>C, NM_001352916.2:c.*1385T>C, NM_001352916.1:c.*1385T>C, NM_001352915.2:c.*1385T>C, NM_001352915.1:c.*1385T>C, NM_001352912.1:c.*1385T>C, XM_017021423.3:c.*1330T>C, XM_017021423.2:c.*1330T>C, XM_017021423.1:c.*1330T>C, XM_011536918.2:c.*1385T>C, XM_011536918.1:c.*1385T>C, XM_005267819.2:c.*1385T>C, XM_005267819.1:c.*1385T>C, XM_005267826.2:c.*1385T>C, XM_005267826.1:c.*1385T>C, XM_011536920.2:c.*1385T>C, XM_011536920.1:c.*1385T>C, XM_005267827.2:c.*1385T>C, XM_005267827.1:c.*1385T>C, XM_005267824.2:c.*1330T>C, XM_005267824.1:c.*1330T>C, XM_047431536.1:c.*1385T>C, XM_047431537.1:c.*1385T>C, XM_047431539.1:c.*1385T>C, XM_047431538.1:c.*1385T>C, XM_047431532.1:c.*1385T>C, XM_047431531.1:c.*1385T>C, XM_047431530.1:c.*1385T>C, XM_047431535.1:c.*1330T>C, XM_047431533.1:c.*1385T>C, XM_047431541.1:c.*1385T>C, XM_047431534.1:c.*1330T>C, XM_047431540.1:c.*1385T>C

              7.

              rs1485675360 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->G [Show Flanks]
                Chromosome:
                14:101925951 (GRCh38)
                14:102392289 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101925951:G:GG
                Gene:
                PPP2R5C (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                GG=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:
                NC_000014.9:g.101925952dup, NC_000014.8:g.102392289dup, NG_047069.1:g.170380dup, NM_002719.4:c.*680dup, NM_002719.3:c.*680dup, NM_178586.3:c.*680dup, NM_178586.2:c.*680dup, NM_001352913.2:c.*680dup, NM_001352913.1:c.*680dup, NM_001161725.2:c.*680dup, NM_001161725.1:c.*680dup, NM_001161726.2:c.*680dup, NM_001161726.1:c.*680dup, NM_001352914.2:c.*680dup, NM_001352914.1:c.*680dup, NM_001352916.2:c.*680dup, NM_001352916.1:c.*680dup, NM_001352915.2:c.*680dup, NM_001352915.1:c.*680dup, NM_001352912.1:c.*680dup, XM_017021423.3:c.*625dup, XM_017021423.2:c.*625dup, XM_017021423.1:c.*625dup, XM_011536918.2:c.*680dup, XM_011536918.1:c.*680dup, XM_005267819.2:c.*680dup, XM_005267819.1:c.*680dup, XM_005267826.2:c.*680dup, XM_005267826.1:c.*680dup, XM_011536920.2:c.*680dup, XM_011536920.1:c.*680dup, XM_005267827.2:c.*680dup, XM_005267827.1:c.*680dup, XM_005267824.2:c.*625dup, XM_005267824.1:c.*625dup, XM_047431536.1:c.*680dup, XM_047431537.1:c.*680dup, XM_047431539.1:c.*680dup, XM_047431538.1:c.*680dup, XM_047431532.1:c.*680dup, XM_047431531.1:c.*680dup, XM_047431530.1:c.*680dup, XM_047431535.1:c.*625dup, XM_047431533.1:c.*680dup, XM_047431541.1:c.*680dup, XM_047431534.1:c.*625dup, XM_047431540.1:c.*680dup

                8.

                rs1484922591 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:101925303 (GRCh38)
                  14:102391640 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101925302:G:A
                  Gene:
                  PPP2R5C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000014.9:g.101925303G>A, NC_000014.8:g.102391640G>A, NG_047069.1:g.169731G>A, NM_002719.4:c.*31G>A, NM_002719.3:c.*31G>A, NM_178586.3:c.*31G>A, NM_178586.2:c.*31G>A, NM_001352913.2:c.*31G>A, NM_001352913.1:c.*31G>A, NM_001161725.2:c.*31G>A, NM_001161725.1:c.*31G>A, NM_001161726.2:c.*31G>A, NM_001161726.1:c.*31G>A, NM_001352914.2:c.*31G>A, NM_001352914.1:c.*31G>A, NM_001352916.2:c.*31G>A, NM_001352916.1:c.*31G>A, NM_001352915.2:c.*31G>A, NM_001352915.1:c.*31G>A, NM_001352912.1:c.*31G>A, XM_017021423.3:c.1416G>A, XM_017021423.2:c.1416G>A, XM_017021423.1:c.1416G>A, XM_011536918.2:c.*31G>A, XM_011536918.1:c.*31G>A, XM_005267819.2:c.*31G>A, XM_005267819.1:c.*31G>A, XM_005267826.2:c.*31G>A, XM_005267826.1:c.*31G>A, XM_011536920.2:c.*31G>A, XM_011536920.1:c.*31G>A, XM_005267827.2:c.*31G>A, XM_005267827.1:c.*31G>A, XM_005267824.2:c.1596G>A, XM_005267824.1:c.1596G>A, XM_047431536.1:c.*31G>A, XM_047431537.1:c.*31G>A, XM_047431539.1:c.*31G>A, XM_047431538.1:c.*31G>A, XM_047431532.1:c.*31G>A, XM_047431531.1:c.*31G>A, XM_047431530.1:c.*31G>A, XM_047431535.1:c.1368G>A, XM_047431533.1:c.*31G>A, XM_047431541.1:c.*31G>A, XM_047431534.1:c.1470G>A, XM_047431540.1:c.*31G>A

                  9.

                  rs1484914314 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    14:101925407 (GRCh38)
                    14:102391744 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101925406:G:A,NC_000014.9:101925406:G:C
                    Gene:
                    PPP2R5C (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    HGVS:
                    NC_000014.9:g.101925407G>A, NC_000014.9:g.101925407G>C, NC_000014.8:g.102391744G>A, NC_000014.8:g.102391744G>C, NG_047069.1:g.169835G>A, NG_047069.1:g.169835G>C, NM_002719.4:c.*135G>A, NM_002719.4:c.*135G>C, NM_002719.3:c.*135G>A, NM_002719.3:c.*135G>C, NM_178586.3:c.*135G>A, NM_178586.3:c.*135G>C, NM_178586.2:c.*135G>A, NM_178586.2:c.*135G>C, NM_001352913.2:c.*135G>A, NM_001352913.2:c.*135G>C, NM_001352913.1:c.*135G>A, NM_001352913.1:c.*135G>C, NM_001161725.2:c.*135G>A, NM_001161725.2:c.*135G>C, NM_001161725.1:c.*135G>A, NM_001161725.1:c.*135G>C, NM_001161726.2:c.*135G>A, NM_001161726.2:c.*135G>C, NM_001161726.1:c.*135G>A, NM_001161726.1:c.*135G>C, NM_001352914.2:c.*135G>A, NM_001352914.2:c.*135G>C, NM_001352914.1:c.*135G>A, NM_001352914.1:c.*135G>C, NM_001352916.2:c.*135G>A, NM_001352916.2:c.*135G>C, NM_001352916.1:c.*135G>A, NM_001352916.1:c.*135G>C, NM_001352915.2:c.*135G>A, NM_001352915.2:c.*135G>C, NM_001352915.1:c.*135G>A, NM_001352915.1:c.*135G>C, NM_001352912.1:c.*135G>A, NM_001352912.1:c.*135G>C, XM_017021423.3:c.*80G>A, XM_017021423.3:c.*80G>C, XM_017021423.2:c.*80G>A, XM_017021423.2:c.*80G>C, XM_017021423.1:c.*80G>A, XM_017021423.1:c.*80G>C, XM_011536918.2:c.*135G>A, XM_011536918.2:c.*135G>C, XM_011536918.1:c.*135G>A, XM_011536918.1:c.*135G>C, XM_005267819.2:c.*135G>A, XM_005267819.2:c.*135G>C, XM_005267819.1:c.*135G>A, XM_005267819.1:c.*135G>C, XM_005267826.2:c.*135G>A, XM_005267826.2:c.*135G>C, XM_005267826.1:c.*135G>A, XM_005267826.1:c.*135G>C, XM_011536920.2:c.*135G>A, XM_011536920.2:c.*135G>C, XM_011536920.1:c.*135G>A, XM_011536920.1:c.*135G>C, XM_005267827.2:c.*135G>A, XM_005267827.2:c.*135G>C, XM_005267827.1:c.*135G>A, XM_005267827.1:c.*135G>C, XM_005267824.2:c.*80G>A, XM_005267824.2:c.*80G>C, XM_005267824.1:c.*80G>A, XM_005267824.1:c.*80G>C, XM_047431536.1:c.*135G>A, XM_047431536.1:c.*135G>C, XM_047431537.1:c.*135G>A, XM_047431537.1:c.*135G>C, XM_047431539.1:c.*135G>A, XM_047431539.1:c.*135G>C, XM_047431538.1:c.*135G>A, XM_047431538.1:c.*135G>C, XM_047431532.1:c.*135G>A, XM_047431532.1:c.*135G>C, XM_047431531.1:c.*135G>A, XM_047431531.1:c.*135G>C, XM_047431530.1:c.*135G>A, XM_047431530.1:c.*135G>C, XM_047431535.1:c.*80G>A, XM_047431535.1:c.*80G>C, XM_047431533.1:c.*135G>A, XM_047431533.1:c.*135G>C, XM_047431541.1:c.*135G>A, XM_047431541.1:c.*135G>C, XM_047431534.1:c.*80G>A, XM_047431534.1:c.*80G>C, XM_047431540.1:c.*135G>A, XM_047431540.1:c.*135G>C

                    10.

                    rs1483075031 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      14:101856860 (GRCh38)
                      14:102323197 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101856859:C:T
                      Gene:
                      PPP2R5C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000014.9:g.101856860C>T, NC_000014.8:g.102323197C>T, NG_047069.1:g.101288C>T, NM_002719.4:c.269C>T, NM_002719.3:c.269C>T, NM_178586.3:c.269C>T, NM_178586.2:c.269C>T, NM_178587.3:c.269C>T, NM_178587.2:c.269C>T, NM_001352913.2:c.434C>T, NM_001352913.1:c.434C>T, NM_001161725.2:c.362C>T, NM_001161725.1:c.362C>T, NM_001161726.2:c.434C>T, NM_001161726.1:c.434C>T, NM_001352914.2:c.449C>T, NM_001352914.1:c.449C>T, NM_001352916.2:c.44C>T, NM_001352916.1:c.44C>T, NM_001352915.2:c.44C>T, NM_001352915.1:c.44C>T, NM_001352912.1:c.269C>T, XM_017021423.3:c.269C>T, XM_017021423.2:c.269C>T, XM_017021423.1:c.269C>T, XM_011536918.2:c.221C>T, XM_011536918.1:c.221C>T, XM_005267819.2:c.449C>T, XM_005267819.1:c.449C>T, XM_005267826.2:c.197C>T, XM_005267826.1:c.197C>T, XM_011536920.2:c.44C>T, XM_011536920.1:c.44C>T, XM_005267827.2:c.44C>T, XM_005267827.1:c.44C>T, XM_005267824.2:c.449C>T, XM_005267824.1:c.449C>T, XM_047431536.1:c.44C>T, XM_047431537.1:c.44C>T, XM_047431539.1:c.44C>T, XM_047431538.1:c.44C>T, XM_047431532.1:c.242C>T, XM_047431531.1:c.242C>T, XM_047431530.1:c.323C>T, XM_047431535.1:c.221C>T, XM_047431533.1:c.323C>T, XM_047431541.1:c.44C>T, XM_047431534.1:c.323C>T, XM_047431540.1:c.44C>T, NM_178588.1:c.269C>T, NP_002710.2:p.Pro90Leu, NP_848701.1:p.Pro90Leu, NP_848702.1:p.Pro90Leu, NP_001339842.1:p.Pro145Leu, NP_001155197.1:p.Pro121Leu, NP_001155198.1:p.Pro145Leu, NP_001339843.1:p.Pro150Leu, NP_001339845.1:p.Pro15Leu, NP_001339844.1:p.Pro15Leu, NP_001339841.1:p.Pro90Leu, XP_016876912.1:p.Pro90Leu, XP_011535220.1:p.Pro74Leu, XP_005267876.1:p.Pro150Leu, XP_005267883.1:p.Pro66Leu, XP_011535222.1:p.Pro15Leu, XP_005267884.1:p.Pro15Leu, XP_005267881.1:p.Pro150Leu, XP_047287492.1:p.Pro15Leu, XP_047287493.1:p.Pro15Leu, XP_047287495.1:p.Pro15Leu, XP_047287494.1:p.Pro15Leu, XP_047287488.1:p.Pro81Leu, XP_047287487.1:p.Pro81Leu, XP_047287486.1:p.Pro108Leu, XP_047287491.1:p.Pro74Leu, XP_047287489.1:p.Pro108Leu, XP_047287497.1:p.Pro15Leu, XP_047287490.1:p.Pro108Leu, XP_047287496.1:p.Pro15Leu

                      11.

                      rs1481395575 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        14:101926652 (GRCh38)
                        14:102392989 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101926651:A:C
                        Gene:
                        PPP2R5C (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        C=0.000007/1 (GnomAD)
                        C=0.000223/1 (Estonian)
                        HGVS:
                        NC_000014.9:g.101926652A>C, NC_000014.8:g.102392989A>C, NG_047069.1:g.171080A>C, NM_002719.4:c.*1380A>C, NM_002719.3:c.*1380A>C, NM_178586.3:c.*1380A>C, NM_178586.2:c.*1380A>C, NM_001352913.2:c.*1380A>C, NM_001352913.1:c.*1380A>C, NM_001161725.2:c.*1380A>C, NM_001161725.1:c.*1380A>C, NM_001161726.2:c.*1380A>C, NM_001161726.1:c.*1380A>C, NM_001352914.2:c.*1380A>C, NM_001352914.1:c.*1380A>C, NM_001352916.2:c.*1380A>C, NM_001352916.1:c.*1380A>C, NM_001352915.2:c.*1380A>C, NM_001352915.1:c.*1380A>C, NM_001352912.1:c.*1380A>C, XM_017021423.3:c.*1325A>C, XM_017021423.2:c.*1325A>C, XM_017021423.1:c.*1325A>C, XM_011536918.2:c.*1380A>C, XM_011536918.1:c.*1380A>C, XM_005267819.2:c.*1380A>C, XM_005267819.1:c.*1380A>C, XM_005267826.2:c.*1380A>C, XM_005267826.1:c.*1380A>C, XM_011536920.2:c.*1380A>C, XM_011536920.1:c.*1380A>C, XM_005267827.2:c.*1380A>C, XM_005267827.1:c.*1380A>C, XM_005267824.2:c.*1325A>C, XM_005267824.1:c.*1325A>C, XM_047431536.1:c.*1380A>C, XM_047431537.1:c.*1380A>C, XM_047431539.1:c.*1380A>C, XM_047431538.1:c.*1380A>C, XM_047431532.1:c.*1380A>C, XM_047431531.1:c.*1380A>C, XM_047431530.1:c.*1380A>C, XM_047431535.1:c.*1325A>C, XM_047431533.1:c.*1380A>C, XM_047431541.1:c.*1380A>C, XM_047431534.1:c.*1325A>C, XM_047431540.1:c.*1380A>C

                        12.

                        rs1481253826 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          14:101925299 (GRCh38)
                          14:102391636 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101925298:G:C
                          Gene:
                          PPP2R5C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000071/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000014.9:g.101925299G>C, NC_000014.8:g.102391636G>C, NG_047069.1:g.169727G>C, NM_002719.4:c.*27G>C, NM_002719.3:c.*27G>C, NM_178586.3:c.*27G>C, NM_178586.2:c.*27G>C, NM_001352913.2:c.*27G>C, NM_001352913.1:c.*27G>C, NM_001161725.2:c.*27G>C, NM_001161725.1:c.*27G>C, NM_001161726.2:c.*27G>C, NM_001161726.1:c.*27G>C, NM_001352914.2:c.*27G>C, NM_001352914.1:c.*27G>C, NM_001352916.2:c.*27G>C, NM_001352916.1:c.*27G>C, NM_001352915.2:c.*27G>C, NM_001352915.1:c.*27G>C, NM_001352912.1:c.*27G>C, XM_017021423.3:c.1412G>C, XM_017021423.2:c.1412G>C, XM_017021423.1:c.1412G>C, XM_011536918.2:c.*27G>C, XM_011536918.1:c.*27G>C, XM_005267819.2:c.*27G>C, XM_005267819.1:c.*27G>C, XM_005267826.2:c.*27G>C, XM_005267826.1:c.*27G>C, XM_011536920.2:c.*27G>C, XM_011536920.1:c.*27G>C, XM_005267827.2:c.*27G>C, XM_005267827.1:c.*27G>C, XM_005267824.2:c.1592G>C, XM_005267824.1:c.1592G>C, XM_047431536.1:c.*27G>C, XM_047431537.1:c.*27G>C, XM_047431539.1:c.*27G>C, XM_047431538.1:c.*27G>C, XM_047431532.1:c.*27G>C, XM_047431531.1:c.*27G>C, XM_047431530.1:c.*27G>C, XM_047431535.1:c.1364G>C, XM_047431533.1:c.*27G>C, XM_047431541.1:c.*27G>C, XM_047431534.1:c.1466G>C, XM_047431540.1:c.*27G>C, XP_016876912.1:p.Gly471Ala, XP_005267881.1:p.Gly531Ala, XP_047287491.1:p.Gly455Ala, XP_047287490.1:p.Gly489Ala

                          13.

                          rs1481142472 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            14:101926279 (GRCh38)
                            14:102392616 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101926278:C:G
                            Gene:
                            PPP2R5C (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000014.9:g.101926279C>G, NC_000014.8:g.102392616C>G, NG_047069.1:g.170707C>G, NM_002719.4:c.*1007C>G, NM_002719.3:c.*1007C>G, NM_178586.3:c.*1007C>G, NM_178586.2:c.*1007C>G, NM_001352913.2:c.*1007C>G, NM_001352913.1:c.*1007C>G, NM_001161725.2:c.*1007C>G, NM_001161725.1:c.*1007C>G, NM_001161726.2:c.*1007C>G, NM_001161726.1:c.*1007C>G, NM_001352914.2:c.*1007C>G, NM_001352914.1:c.*1007C>G, NM_001352916.2:c.*1007C>G, NM_001352916.1:c.*1007C>G, NM_001352915.2:c.*1007C>G, NM_001352915.1:c.*1007C>G, NM_001352912.1:c.*1007C>G, XM_017021423.3:c.*952C>G, XM_017021423.2:c.*952C>G, XM_017021423.1:c.*952C>G, XM_011536918.2:c.*1007C>G, XM_011536918.1:c.*1007C>G, XM_005267819.2:c.*1007C>G, XM_005267819.1:c.*1007C>G, XM_005267826.2:c.*1007C>G, XM_005267826.1:c.*1007C>G, XM_011536920.2:c.*1007C>G, XM_011536920.1:c.*1007C>G, XM_005267827.2:c.*1007C>G, XM_005267827.1:c.*1007C>G, XM_005267824.2:c.*952C>G, XM_005267824.1:c.*952C>G, XM_047431536.1:c.*1007C>G, XM_047431537.1:c.*1007C>G, XM_047431539.1:c.*1007C>G, XM_047431538.1:c.*1007C>G, XM_047431532.1:c.*1007C>G, XM_047431531.1:c.*1007C>G, XM_047431530.1:c.*1007C>G, XM_047431535.1:c.*952C>G, XM_047431533.1:c.*1007C>G, XM_047431541.1:c.*1007C>G, XM_047431534.1:c.*952C>G, XM_047431540.1:c.*1007C>G

                            14.

                            rs1480416856 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              C>- [Show Flanks]
                              Chromosome:
                              14:101925450 (GRCh38)
                              14:102391787 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101925449:CCC:CC
                              Gene:
                              PPP2R5C (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              CC=0./0 (ALFA)
                              -=0.000007/1 (GnomAD)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000014.9:g.101925452del, NC_000014.8:g.102391789del, NG_047069.1:g.169880del, NM_002719.4:c.*180del, NM_002719.3:c.*180del, NM_178586.3:c.*180del, NM_178586.2:c.*180del, NM_001352913.2:c.*180del, NM_001352913.1:c.*180del, NM_001161725.2:c.*180del, NM_001161725.1:c.*180del, NM_001161726.2:c.*180del, NM_001161726.1:c.*180del, NM_001352914.2:c.*180del, NM_001352914.1:c.*180del, NM_001352916.2:c.*180del, NM_001352916.1:c.*180del, NM_001352915.2:c.*180del, NM_001352915.1:c.*180del, NM_001352912.1:c.*180del, XM_017021423.3:c.*125del, XM_017021423.2:c.*125del, XM_017021423.1:c.*125del, XM_011536918.2:c.*180del, XM_011536918.1:c.*180del, XM_005267819.2:c.*180del, XM_005267819.1:c.*180del, XM_005267826.2:c.*180del, XM_005267826.1:c.*180del, XM_011536920.2:c.*180del, XM_011536920.1:c.*180del, XM_005267827.2:c.*180del, XM_005267827.1:c.*180del, XM_005267824.2:c.*125del, XM_005267824.1:c.*125del, XM_047431536.1:c.*180del, XM_047431537.1:c.*180del, XM_047431539.1:c.*180del, XM_047431538.1:c.*180del, XM_047431532.1:c.*180del, XM_047431531.1:c.*180del, XM_047431530.1:c.*180del, XM_047431535.1:c.*125del, XM_047431533.1:c.*180del, XM_047431541.1:c.*180del, XM_047431534.1:c.*125del, XM_047431540.1:c.*180del

                              15.

                              rs1480050317 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:101926876 (GRCh38)
                                14:102393213 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101926875:A:G
                                Gene:
                                PPP2R5C (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000142/2 (TOMMO)
                                HGVS:
                                NC_000014.9:g.101926876A>G, NC_000014.8:g.102393213A>G, NG_047069.1:g.171304A>G, NM_002719.4:c.*1604A>G, NM_002719.3:c.*1604A>G, NM_178586.3:c.*1604A>G, NM_178586.2:c.*1604A>G, NM_001352913.2:c.*1604A>G, NM_001352913.1:c.*1604A>G, NM_001161725.2:c.*1604A>G, NM_001161725.1:c.*1604A>G, NM_001161726.2:c.*1604A>G, NM_001161726.1:c.*1604A>G, NM_001352914.2:c.*1604A>G, NM_001352914.1:c.*1604A>G, NM_001352916.2:c.*1604A>G, NM_001352916.1:c.*1604A>G, NM_001352915.2:c.*1604A>G, NM_001352915.1:c.*1604A>G, NM_001352912.1:c.*1604A>G, XM_017021423.3:c.*1549A>G, XM_017021423.2:c.*1549A>G, XM_017021423.1:c.*1549A>G, XM_011536918.2:c.*1604A>G, XM_011536918.1:c.*1604A>G, XM_005267819.2:c.*1604A>G, XM_005267819.1:c.*1604A>G, XM_005267826.2:c.*1604A>G, XM_005267826.1:c.*1604A>G, XM_011536920.2:c.*1604A>G, XM_011536920.1:c.*1604A>G, XM_005267827.2:c.*1604A>G, XM_005267827.1:c.*1604A>G, XM_005267824.2:c.*1549A>G, XM_005267824.1:c.*1549A>G, XM_047431536.1:c.*1604A>G, XM_047431537.1:c.*1604A>G, XM_047431539.1:c.*1604A>G, XM_047431538.1:c.*1604A>G, XM_047431532.1:c.*1604A>G, XM_047431531.1:c.*1604A>G, XM_047431530.1:c.*1604A>G, XM_047431535.1:c.*1549A>G, XM_047431533.1:c.*1604A>G, XM_047431541.1:c.*1604A>G, XM_047431534.1:c.*1549A>G, XM_047431540.1:c.*1604A>G

                                16.

                                rs1479911010 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  14:101925763 (GRCh38)
                                  14:102392100 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101925762:A:G
                                  Gene:
                                  PPP2R5C (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,3_prime_UTR_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_000014.9:g.101925763A>G, NC_000014.8:g.102392100A>G, NG_047069.1:g.170191A>G, NM_002719.4:c.*491A>G, NM_002719.3:c.*491A>G, NM_178586.3:c.*491A>G, NM_178586.2:c.*491A>G, NM_001352913.2:c.*491A>G, NM_001352913.1:c.*491A>G, NM_001161725.2:c.*491A>G, NM_001161725.1:c.*491A>G, NM_001161726.2:c.*491A>G, NM_001161726.1:c.*491A>G, NM_001352914.2:c.*491A>G, NM_001352914.1:c.*491A>G, NM_001352916.2:c.*491A>G, NM_001352916.1:c.*491A>G, NM_001352915.2:c.*491A>G, NM_001352915.1:c.*491A>G, NM_001352912.1:c.*491A>G, XM_017021423.3:c.*436A>G, XM_017021423.2:c.*436A>G, XM_017021423.1:c.*436A>G, XM_011536918.2:c.*491A>G, XM_011536918.1:c.*491A>G, XM_005267819.2:c.*491A>G, XM_005267819.1:c.*491A>G, XM_005267826.2:c.*491A>G, XM_005267826.1:c.*491A>G, XM_011536920.2:c.*491A>G, XM_011536920.1:c.*491A>G, XM_005267827.2:c.*491A>G, XM_005267827.1:c.*491A>G, XM_005267824.2:c.*436A>G, XM_005267824.1:c.*436A>G, XM_047431536.1:c.*491A>G, XM_047431537.1:c.*491A>G, XM_047431539.1:c.*491A>G, XM_047431538.1:c.*491A>G, XM_047431532.1:c.*491A>G, XM_047431531.1:c.*491A>G, XM_047431530.1:c.*491A>G, XM_047431535.1:c.*436A>G, XM_047431533.1:c.*491A>G, XM_047431541.1:c.*491A>G, XM_047431534.1:c.*436A>G, XM_047431540.1:c.*491A>G

                                  17.

                                  rs1479726857 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    14:101927440 (GRCh38)
                                    14:102393777 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101927439:G:T
                                    Gene:
                                    PPP2R5C (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000014.9:g.101927440G>T, NC_000014.8:g.102393777G>T, NG_047069.1:g.171868G>T, NM_002719.4:c.*2168G>T, NM_002719.3:c.*2168G>T, NM_178586.3:c.*2168G>T, NM_178586.2:c.*2168G>T, NM_001352913.2:c.*2168G>T, NM_001352913.1:c.*2168G>T, NM_001161725.2:c.*2168G>T, NM_001161725.1:c.*2168G>T, NM_001161726.2:c.*2168G>T, NM_001161726.1:c.*2168G>T, NM_001352914.2:c.*2168G>T, NM_001352914.1:c.*2168G>T, NM_001352916.2:c.*2168G>T, NM_001352916.1:c.*2168G>T, NM_001352915.2:c.*2168G>T, NM_001352915.1:c.*2168G>T, NM_001352912.1:c.*2168G>T, XM_017021423.3:c.*2113G>T, XM_017021423.2:c.*2113G>T, XM_017021423.1:c.*2113G>T, XM_011536918.2:c.*2168G>T, XM_011536918.1:c.*2168G>T, XM_005267819.2:c.*2168G>T, XM_005267819.1:c.*2168G>T, XM_005267826.2:c.*2168G>T, XM_005267826.1:c.*2168G>T, XM_011536920.2:c.*2168G>T, XM_011536920.1:c.*2168G>T, XM_005267827.2:c.*2168G>T, XM_005267827.1:c.*2168G>T, XM_005267824.2:c.*2113G>T, XM_005267824.1:c.*2113G>T, XM_047431536.1:c.*2168G>T, XM_047431537.1:c.*2168G>T, XM_047431539.1:c.*2168G>T, XM_047431538.1:c.*2168G>T, XM_047431532.1:c.*2168G>T, XM_047431531.1:c.*2168G>T, XM_047431530.1:c.*2168G>T, XM_047431535.1:c.*2113G>T, XM_047431533.1:c.*2168G>T, XM_047431541.1:c.*2168G>T, XM_047431534.1:c.*2113G>T, XM_047431540.1:c.*2168G>T

                                    18.

                                    rs1478110278 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G,T [Show Flanks]
                                      Chromosome:
                                      14:101906486 (GRCh38)
                                      14:102372823 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101906485:A:G,NC_000014.9:101906485:A:T
                                      Gene:
                                      PPP2R5C (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000014.9:g.101906486A>G, NC_000014.9:g.101906486A>T, NC_000014.8:g.102372823A>G, NC_000014.8:g.102372823A>T, NG_047069.1:g.150914A>G, NG_047069.1:g.150914A>T, NM_002719.4:c.1108A>G, NM_002719.4:c.1108A>T, NM_002719.3:c.1108A>G, NM_002719.3:c.1108A>T, NM_178586.3:c.1108A>G, NM_178586.3:c.1108A>T, NM_178586.2:c.1108A>G, NM_178586.2:c.1108A>T, NM_178587.3:c.1108A>G, NM_178587.3:c.1108A>T, NM_178587.2:c.1108A>G, NM_178587.2:c.1108A>T, NM_001352913.2:c.1273A>G, NM_001352913.2:c.1273A>T, NM_001352913.1:c.1273A>G, NM_001352913.1:c.1273A>T, NM_001161725.2:c.1201A>G, NM_001161725.2:c.1201A>T, NM_001161725.1:c.1201A>G, NM_001161725.1:c.1201A>T, NM_001161726.2:c.1273A>G, NM_001161726.2:c.1273A>T, NM_001161726.1:c.1273A>G, NM_001161726.1:c.1273A>T, NM_001352914.2:c.1288A>G, NM_001352914.2:c.1288A>T, NM_001352914.1:c.1288A>G, NM_001352914.1:c.1288A>T, NM_001352916.2:c.883A>G, NM_001352916.2:c.883A>T, NM_001352916.1:c.883A>G, NM_001352916.1:c.883A>T, NM_001352915.2:c.883A>G, NM_001352915.2:c.883A>T, NM_001352915.1:c.883A>G, NM_001352915.1:c.883A>T, NM_001352912.1:c.1108A>G, NM_001352912.1:c.1108A>T, XM_017021423.3:c.1108A>G, XM_017021423.3:c.1108A>T, XM_017021423.2:c.1108A>G, XM_017021423.2:c.1108A>T, XM_017021423.1:c.1108A>G, XM_017021423.1:c.1108A>T, XM_011536918.2:c.1060A>G, XM_011536918.2:c.1060A>T, XM_011536918.1:c.1060A>G, XM_011536918.1:c.1060A>T, XM_005267819.2:c.1288A>G, XM_005267819.2:c.1288A>T, XM_005267819.1:c.1288A>G, XM_005267819.1:c.1288A>T, XM_005267826.2:c.1036A>G, XM_005267826.2:c.1036A>T, XM_005267826.1:c.1036A>G, XM_005267826.1:c.1036A>T, XM_011536920.2:c.883A>G, XM_011536920.2:c.883A>T, XM_011536920.1:c.883A>G, XM_011536920.1:c.883A>T, XM_005267827.2:c.883A>G, XM_005267827.2:c.883A>T, XM_005267827.1:c.883A>G, XM_005267827.1:c.883A>T, XM_005267824.2:c.1288A>G, XM_005267824.2:c.1288A>T, XM_005267824.1:c.1288A>G, XM_005267824.1:c.1288A>T, XM_047431536.1:c.883A>G, XM_047431536.1:c.883A>T, XM_047431537.1:c.883A>G, XM_047431537.1:c.883A>T, XM_047431539.1:c.883A>G, XM_047431539.1:c.883A>T, XM_047431538.1:c.883A>G, XM_047431538.1:c.883A>T, XM_047431532.1:c.1081A>G, XM_047431532.1:c.1081A>T, XM_047431531.1:c.1081A>G, XM_047431531.1:c.1081A>T, XM_047431530.1:c.1162A>G, XM_047431530.1:c.1162A>T, XM_047431535.1:c.1060A>G, XM_047431535.1:c.1060A>T, XM_047431533.1:c.1162A>G, XM_047431533.1:c.1162A>T, XM_047431541.1:c.883A>G, XM_047431541.1:c.883A>T, XM_047431534.1:c.1162A>G, XM_047431534.1:c.1162A>T, XM_047431540.1:c.883A>G, XM_047431540.1:c.883A>T, NM_178588.1:c.1108A>G, NM_178588.1:c.1108A>T, NP_002710.2:p.Met370Val, NP_002710.2:p.Met370Leu, NP_848701.1:p.Met370Val, NP_848701.1:p.Met370Leu, NP_848702.1:p.Met370Val, NP_848702.1:p.Met370Leu, NP_001339842.1:p.Met425Val, NP_001339842.1:p.Met425Leu, NP_001155197.1:p.Met401Val, NP_001155197.1:p.Met401Leu, NP_001155198.1:p.Met425Val, NP_001155198.1:p.Met425Leu, NP_001339843.1:p.Met430Val, NP_001339843.1:p.Met430Leu, NP_001339845.1:p.Met295Val, NP_001339845.1:p.Met295Leu, NP_001339844.1:p.Met295Val, NP_001339844.1:p.Met295Leu, NP_001339841.1:p.Met370Val, NP_001339841.1:p.Met370Leu, XP_016876912.1:p.Met370Val, XP_016876912.1:p.Met370Leu, XP_011535220.1:p.Met354Val, XP_011535220.1:p.Met354Leu, XP_005267876.1:p.Met430Val, XP_005267876.1:p.Met430Leu, XP_005267883.1:p.Met346Val, XP_005267883.1:p.Met346Leu, XP_011535222.1:p.Met295Val, XP_011535222.1:p.Met295Leu, XP_005267884.1:p.Met295Val, XP_005267884.1:p.Met295Leu, XP_005267881.1:p.Met430Val, XP_005267881.1:p.Met430Leu, XP_047287492.1:p.Met295Val, XP_047287492.1:p.Met295Leu, XP_047287493.1:p.Met295Val, XP_047287493.1:p.Met295Leu, XP_047287495.1:p.Met295Val, XP_047287495.1:p.Met295Leu, XP_047287494.1:p.Met295Val, XP_047287494.1:p.Met295Leu, XP_047287488.1:p.Met361Val, XP_047287488.1:p.Met361Leu, XP_047287487.1:p.Met361Val, XP_047287487.1:p.Met361Leu, XP_047287486.1:p.Met388Val, XP_047287486.1:p.Met388Leu, XP_047287491.1:p.Met354Val, XP_047287491.1:p.Met354Leu, XP_047287489.1:p.Met388Val, XP_047287489.1:p.Met388Leu, XP_047287497.1:p.Met295Val, XP_047287497.1:p.Met295Leu, XP_047287490.1:p.Met388Val, XP_047287490.1:p.Met388Leu, XP_047287496.1:p.Met295Val, XP_047287496.1:p.Met295Leu

                                      19.

                                      rs1477512286 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        TCAC>- [Show Flanks]
                                        Chromosome:
                                        14:101927305 (GRCh38)
                                        14:102393642 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101927301:CACTCAC:CAC
                                        Gene:
                                        PPP2R5C (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,3_prime_UTR_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CAC=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.101927305_101927308del, NC_000014.8:g.102393642_102393645del, NG_047069.1:g.171733_171736del, NM_002719.4:c.*2033_*2036del, NM_002719.3:c.*2033_*2036del, NM_178586.3:c.*2033_*2036del, NM_178586.2:c.*2033_*2036del, NM_001352913.2:c.*2033_*2036del, NM_001352913.1:c.*2033_*2036del, NM_001161725.2:c.*2033_*2036del, NM_001161725.1:c.*2033_*2036del, NM_001161726.2:c.*2033_*2036del, NM_001161726.1:c.*2033_*2036del, NM_001352914.2:c.*2033_*2036del, NM_001352914.1:c.*2033_*2036del, NM_001352916.2:c.*2033_*2036del, NM_001352916.1:c.*2033_*2036del, NM_001352915.2:c.*2033_*2036del, NM_001352915.1:c.*2033_*2036del, NM_001352912.1:c.*2033_*2036del, XM_017021423.3:c.*1978_*1981del, XM_017021423.2:c.*1978_*1981del, XM_017021423.1:c.*1978_*1981del, XM_011536918.2:c.*2033_*2036del, XM_011536918.1:c.*2033_*2036del, XM_005267819.2:c.*2033_*2036del, XM_005267819.1:c.*2033_*2036del, XM_005267826.2:c.*2033_*2036del, XM_005267826.1:c.*2033_*2036del, XM_011536920.2:c.*2033_*2036del, XM_011536920.1:c.*2033_*2036del, XM_005267827.2:c.*2033_*2036del, XM_005267827.1:c.*2033_*2036del, XM_005267824.2:c.*1978_*1981del, XM_005267824.1:c.*1978_*1981del, XM_047431536.1:c.*2033_*2036del, XM_047431537.1:c.*2033_*2036del, XM_047431539.1:c.*2033_*2036del, XM_047431538.1:c.*2033_*2036del, XM_047431532.1:c.*2033_*2036del, XM_047431531.1:c.*2033_*2036del, XM_047431530.1:c.*2033_*2036del, XM_047431535.1:c.*1978_*1981del, XM_047431533.1:c.*2033_*2036del, XM_047431541.1:c.*2033_*2036del, XM_047431534.1:c.*1978_*1981del, XM_047431540.1:c.*2033_*2036del

                                        20.

                                        rs1477268983 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          14:101925146 (GRCh38)
                                          14:102391483 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101925145:G:A
                                          Gene:
                                          PPP2R5C (Varview)
                                          Functional Consequence:
                                          synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.101925146G>A, NC_000014.8:g.102391483G>A, NG_047069.1:g.169574G>A, NM_002719.4:c.1449G>A, NM_002719.3:c.1449G>A, NM_178586.3:c.1332G>A, NM_178586.2:c.1332G>A, NM_001352913.2:c.1614G>A, NM_001352913.1:c.1614G>A, NM_001161725.2:c.1542G>A, NM_001161725.1:c.1542G>A, NM_001161726.2:c.1497G>A, NM_001161726.1:c.1497G>A, NM_001352914.2:c.1512G>A, NM_001352914.1:c.1512G>A, NM_001352916.2:c.1107G>A, NM_001352916.1:c.1107G>A, NM_001352915.2:c.1224G>A, NM_001352915.1:c.1224G>A, NM_001352912.1:c.1332G>A, XM_017021423.3:c.1259G>A, XM_017021423.2:c.1259G>A, XM_017021423.1:c.1259G>A, XM_011536918.2:c.1401G>A, XM_011536918.1:c.1401G>A, XM_005267819.2:c.1629G>A, XM_005267819.1:c.1629G>A, XM_005267826.2:c.1377G>A, XM_005267826.1:c.1377G>A, XM_011536920.2:c.1224G>A, XM_011536920.1:c.1224G>A, XM_005267827.2:c.1224G>A, XM_005267827.1:c.1224G>A, XM_005267824.2:c.1439G>A, XM_005267824.1:c.1439G>A, XM_047431536.1:c.1224G>A, XM_047431537.1:c.1224G>A, XM_047431539.1:c.1224G>A, XM_047431538.1:c.1224G>A, XM_047431532.1:c.1422G>A, XM_047431531.1:c.1422G>A, XM_047431530.1:c.1503G>A, XM_047431535.1:c.1211G>A, XM_047431533.1:c.1386G>A, XM_047431541.1:c.1224G>A, XM_047431534.1:c.1313G>A, XM_047431540.1:c.1107G>A, XP_016876912.1:p.Arg420Lys, XP_005267881.1:p.Arg480Lys, XP_047287491.1:p.Arg404Lys, XP_047287490.1:p.Arg438Lys

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