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Items: 1 to 20 of 305

1.

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

    2.

    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

      3.

      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

        4.

        rs1467985532 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          14:101909678 (GRCh38)
          14:102376015 (GRCh37)
          Canonical SPDI:
          NC_000014.9:101909677:C:T
          Gene:
          PPP2R5C (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000031/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          T=0.000007/1 (GnomAD)
          T=0.000008/2 (TOPMED)
          HGVS:
          NC_000014.9:g.101909678C>T, NC_000014.8:g.102376015C>T, NG_047069.1:g.154106C>T, NM_002719.4:c.1241C>T, NM_002719.3:c.1241C>T, NM_178586.3:c.1241C>T, NM_178586.2:c.1241C>T, NM_178587.3:c.1241C>T, NM_178587.2:c.1241C>T, NM_001352913.2:c.1406C>T, NM_001352913.1:c.1406C>T, NM_001161725.2:c.1334C>T, NM_001161725.1:c.1334C>T, NM_001161726.2:c.1406C>T, NM_001161726.1:c.1406C>T, NM_001352914.2:c.1421C>T, NM_001352914.1:c.1421C>T, NM_001352916.2:c.1016C>T, NM_001352916.1:c.1016C>T, NM_001352915.2:c.1016C>T, NM_001352915.1:c.1016C>T, NM_001352912.1:c.1241C>T, XM_017021423.3:c.1241C>T, XM_017021423.2:c.1241C>T, XM_017021423.1:c.1241C>T, XM_011536918.2:c.1193C>T, XM_011536918.1:c.1193C>T, XM_005267819.2:c.1421C>T, XM_005267819.1:c.1421C>T, XM_005267826.2:c.1169C>T, XM_005267826.1:c.1169C>T, XM_011536920.2:c.1016C>T, XM_011536920.1:c.1016C>T, XM_005267827.2:c.1016C>T, XM_005267827.1:c.1016C>T, XM_005267824.2:c.1421C>T, XM_005267824.1:c.1421C>T, XM_047431536.1:c.1016C>T, XM_047431537.1:c.1016C>T, XM_047431539.1:c.1016C>T, XM_047431538.1:c.1016C>T, XM_047431532.1:c.1214C>T, XM_047431531.1:c.1214C>T, XM_047431530.1:c.1295C>T, XM_047431535.1:c.1193C>T, XM_047431533.1:c.1295C>T, XM_047431541.1:c.1016C>T, XM_047431534.1:c.1295C>T, XM_047431540.1:c.1016C>T, NP_002710.2:p.Ala414Val, NP_848701.1:p.Ala414Val, NP_848702.1:p.Ala414Val, NP_001339842.1:p.Ala469Val, NP_001155197.1:p.Ala445Val, NP_001155198.1:p.Ala469Val, NP_001339843.1:p.Ala474Val, NP_001339845.1:p.Ala339Val, NP_001339844.1:p.Ala339Val, NP_001339841.1:p.Ala414Val, XP_016876912.1:p.Ala414Val, XP_011535220.1:p.Ala398Val, XP_005267876.1:p.Ala474Val, XP_005267883.1:p.Ala390Val, XP_011535222.1:p.Ala339Val, XP_005267884.1:p.Ala339Val, XP_005267881.1:p.Ala474Val, XP_047287492.1:p.Ala339Val, XP_047287493.1:p.Ala339Val, XP_047287495.1:p.Ala339Val, XP_047287494.1:p.Ala339Val, XP_047287488.1:p.Ala405Val, XP_047287487.1:p.Ala405Val, XP_047287486.1:p.Ala432Val, XP_047287491.1:p.Ala398Val, XP_047287489.1:p.Ala432Val, XP_047287497.1:p.Ala339Val, XP_047287490.1:p.Ala432Val, XP_047287496.1:p.Ala339Val

          5.

          rs1456315177 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            14:101917831 (GRCh38)
            14:102384168 (GRCh37)
            Canonical SPDI:
            NC_000014.9:101917830:T:C
            Gene:
            PPP2R5C (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000224/1 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000223/1 (Estonian)
            HGVS:
            NC_000014.9:g.101917831T>C, NC_000014.8:g.102384168T>C, NG_047069.1:g.162259T>C, NM_002719.4:c.1327T>C, NM_002719.3:c.1327T>C, NM_001352913.2:c.1492T>C, NM_001352913.1:c.1492T>C, NM_001161725.2:c.1420T>C, NM_001161725.1:c.1420T>C, NM_001352915.2:c.1102T>C, NM_001352915.1:c.1102T>C, XM_011536918.2:c.1279T>C, XM_011536918.1:c.1279T>C, XM_005267819.2:c.1507T>C, XM_005267819.1:c.1507T>C, XM_005267826.2:c.1255T>C, XM_005267826.1:c.1255T>C, XM_011536920.2:c.1102T>C, XM_011536920.1:c.1102T>C, XM_005267827.2:c.1102T>C, XM_005267827.1:c.1102T>C, XM_047431536.1:c.1102T>C, XM_047431537.1:c.1102T>C, XM_047431539.1:c.1102T>C, XM_047431538.1:c.1102T>C, XM_047431532.1:c.1300T>C, XM_047431531.1:c.1300T>C, XM_047431530.1:c.1381T>C, XM_047431541.1:c.1102T>C, NP_002710.2:p.Tyr443His, NP_001339842.1:p.Tyr498His, NP_001155197.1:p.Tyr474His, NP_001339844.1:p.Tyr368His, XP_011535220.1:p.Tyr427His, XP_005267876.1:p.Tyr503His, XP_005267883.1:p.Tyr419His, XP_011535222.1:p.Tyr368His, XP_005267884.1:p.Tyr368His, XP_047287492.1:p.Tyr368His, XP_047287493.1:p.Tyr368His, XP_047287495.1:p.Tyr368His, XP_047287494.1:p.Tyr368His, XP_047287488.1:p.Tyr434His, XP_047287487.1:p.Tyr434His, XP_047287486.1:p.Tyr461His, XP_047287497.1:p.Tyr368His

            6.

            rs1451747243 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              14:101917907 (GRCh38)
              14:102384244 (GRCh37)
              Canonical SPDI:
              NC_000014.9:101917906:T:G
              Gene:
              PPP2R5C (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.101917907T>G, NC_000014.8:g.102384244T>G, NG_047069.1:g.162335T>G, NM_002719.4:c.1403T>G, NM_002719.3:c.1403T>G, NM_001352913.2:c.1568T>G, NM_001352913.1:c.1568T>G, NM_001161725.2:c.1496T>G, NM_001161725.1:c.1496T>G, NM_001352915.2:c.1178T>G, NM_001352915.1:c.1178T>G, XM_011536918.2:c.1355T>G, XM_011536918.1:c.1355T>G, XM_005267819.2:c.1583T>G, XM_005267819.1:c.1583T>G, XM_005267826.2:c.1331T>G, XM_005267826.1:c.1331T>G, XM_011536920.2:c.1178T>G, XM_011536920.1:c.1178T>G, XM_005267827.2:c.1178T>G, XM_005267827.1:c.1178T>G, XM_047431536.1:c.1178T>G, XM_047431537.1:c.1178T>G, XM_047431539.1:c.1178T>G, XM_047431538.1:c.1178T>G, XM_047431532.1:c.1376T>G, XM_047431531.1:c.1376T>G, XM_047431530.1:c.1457T>G, XM_047431541.1:c.1178T>G, NP_002710.2:p.Val468Gly, NP_001339842.1:p.Val523Gly, NP_001155197.1:p.Val499Gly, NP_001339844.1:p.Val393Gly, XP_011535220.1:p.Val452Gly, XP_005267876.1:p.Val528Gly, XP_005267883.1:p.Val444Gly, XP_011535222.1:p.Val393Gly, XP_005267884.1:p.Val393Gly, XP_047287492.1:p.Val393Gly, XP_047287493.1:p.Val393Gly, XP_047287495.1:p.Val393Gly, XP_047287494.1:p.Val393Gly, XP_047287488.1:p.Val459Gly, XP_047287487.1:p.Val459Gly, XP_047287486.1:p.Val486Gly, XP_047287497.1:p.Val393Gly

              7.

              rs1451132454 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:101917856 (GRCh38)
                14:102384193 (GRCh37)
                Canonical SPDI:
                NC_000014.9:101917855:C:T
                Gene:
                PPP2R5C (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000014.9:g.101917856C>T, NC_000014.8:g.102384193C>T, NG_047069.1:g.162284C>T, NM_002719.4:c.1352C>T, NM_002719.3:c.1352C>T, NM_001352913.2:c.1517C>T, NM_001352913.1:c.1517C>T, NM_001161725.2:c.1445C>T, NM_001161725.1:c.1445C>T, NM_001352915.2:c.1127C>T, NM_001352915.1:c.1127C>T, XM_011536918.2:c.1304C>T, XM_011536918.1:c.1304C>T, XM_005267819.2:c.1532C>T, XM_005267819.1:c.1532C>T, XM_005267826.2:c.1280C>T, XM_005267826.1:c.1280C>T, XM_011536920.2:c.1127C>T, XM_011536920.1:c.1127C>T, XM_005267827.2:c.1127C>T, XM_005267827.1:c.1127C>T, XM_047431536.1:c.1127C>T, XM_047431537.1:c.1127C>T, XM_047431539.1:c.1127C>T, XM_047431538.1:c.1127C>T, XM_047431532.1:c.1325C>T, XM_047431531.1:c.1325C>T, XM_047431530.1:c.1406C>T, XM_047431541.1:c.1127C>T, NP_002710.2:p.Thr451Ile, NP_001339842.1:p.Thr506Ile, NP_001155197.1:p.Thr482Ile, NP_001339844.1:p.Thr376Ile, XP_011535220.1:p.Thr435Ile, XP_005267876.1:p.Thr511Ile, XP_005267883.1:p.Thr427Ile, XP_011535222.1:p.Thr376Ile, XP_005267884.1:p.Thr376Ile, XP_047287492.1:p.Thr376Ile, XP_047287493.1:p.Thr376Ile, XP_047287495.1:p.Thr376Ile, XP_047287494.1:p.Thr376Ile, XP_047287488.1:p.Thr442Ile, XP_047287487.1:p.Thr442Ile, XP_047287486.1:p.Thr469Ile, XP_047287497.1:p.Thr376Ile

                8.

                rs1450639966 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  14:101883451 (GRCh38)
                  14:102349788 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:101883450:G:A
                  Gene:
                  PPP2R5C (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000014.9:g.101883451G>A, NC_000014.8:g.102349788G>A, NG_047069.1:g.127879G>A, NM_002719.4:c.518G>A, NM_002719.3:c.518G>A, NM_178586.3:c.518G>A, NM_178586.2:c.518G>A, NM_178587.3:c.518G>A, NM_178587.2:c.518G>A, NM_001352913.2:c.683G>A, NM_001352913.1:c.683G>A, NM_001161725.2:c.611G>A, NM_001161725.1:c.611G>A, NM_001161726.2:c.683G>A, NM_001161726.1:c.683G>A, NM_001352914.2:c.698G>A, NM_001352914.1:c.698G>A, NM_001352916.2:c.293G>A, NM_001352916.1:c.293G>A, NM_001352915.2:c.293G>A, NM_001352915.1:c.293G>A, NM_001352912.1:c.518G>A, XM_017021423.3:c.518G>A, XM_017021423.2:c.518G>A, XM_017021423.1:c.518G>A, XM_011536918.2:c.470G>A, XM_011536918.1:c.470G>A, XM_005267819.2:c.698G>A, XM_005267819.1:c.698G>A, XM_005267826.2:c.446G>A, XM_005267826.1:c.446G>A, XM_011536920.2:c.293G>A, XM_011536920.1:c.293G>A, XM_005267827.2:c.293G>A, XM_005267827.1:c.293G>A, XM_005267824.2:c.698G>A, XM_005267824.1:c.698G>A, XM_047431536.1:c.293G>A, XM_047431537.1:c.293G>A, XM_047431539.1:c.293G>A, XM_047431538.1:c.293G>A, XM_047431532.1:c.491G>A, XM_047431531.1:c.491G>A, XM_047431530.1:c.572G>A, XM_047431535.1:c.470G>A, XM_047431533.1:c.572G>A, XM_047431541.1:c.293G>A, XM_047431534.1:c.572G>A, XM_047431540.1:c.293G>A, NM_178588.1:c.518G>A, NP_002710.2:p.Ser173Asn, NP_848701.1:p.Ser173Asn, NP_848702.1:p.Ser173Asn, NP_001339842.1:p.Ser228Asn, NP_001155197.1:p.Ser204Asn, NP_001155198.1:p.Ser228Asn, NP_001339843.1:p.Ser233Asn, NP_001339845.1:p.Ser98Asn, NP_001339844.1:p.Ser98Asn, NP_001339841.1:p.Ser173Asn, XP_016876912.1:p.Ser173Asn, XP_011535220.1:p.Ser157Asn, XP_005267876.1:p.Ser233Asn, XP_005267883.1:p.Ser149Asn, XP_011535222.1:p.Ser98Asn, XP_005267884.1:p.Ser98Asn, XP_005267881.1:p.Ser233Asn, XP_047287492.1:p.Ser98Asn, XP_047287493.1:p.Ser98Asn, XP_047287495.1:p.Ser98Asn, XP_047287494.1:p.Ser98Asn, XP_047287488.1:p.Ser164Asn, XP_047287487.1:p.Ser164Asn, XP_047287486.1:p.Ser191Asn, XP_047287491.1:p.Ser157Asn, XP_047287489.1:p.Ser191Asn, XP_047287497.1:p.Ser98Asn, XP_047287490.1:p.Ser191Asn, XP_047287496.1:p.Ser98Asn

                  9.

                  rs1450090032 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:101883329 (GRCh38)
                    14:102349666 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:101883328:G:A
                    Gene:
                    PPP2R5C (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000014.9:g.101883329G>A, NC_000014.8:g.102349666G>A, NG_047069.1:g.127757G>A, NM_002719.4:c.478G>A, NM_002719.3:c.478G>A, NM_178586.3:c.478G>A, NM_178586.2:c.478G>A, NM_178587.3:c.478G>A, NM_178587.2:c.478G>A, NM_001352913.2:c.643G>A, NM_001352913.1:c.643G>A, NM_001161725.2:c.571G>A, NM_001161725.1:c.571G>A, NM_001161726.2:c.643G>A, NM_001161726.1:c.643G>A, NM_001352914.2:c.658G>A, NM_001352914.1:c.658G>A, NM_001352916.2:c.253G>A, NM_001352916.1:c.253G>A, NM_001352915.2:c.253G>A, NM_001352915.1:c.253G>A, NM_001352912.1:c.478G>A, XM_017021423.3:c.478G>A, XM_017021423.2:c.478G>A, XM_017021423.1:c.478G>A, XM_011536918.2:c.430G>A, XM_011536918.1:c.430G>A, XM_005267819.2:c.658G>A, XM_005267819.1:c.658G>A, XM_005267826.2:c.406G>A, XM_005267826.1:c.406G>A, XM_011536920.2:c.253G>A, XM_011536920.1:c.253G>A, XM_005267827.2:c.253G>A, XM_005267827.1:c.253G>A, XM_005267824.2:c.658G>A, XM_005267824.1:c.658G>A, XM_047431536.1:c.253G>A, XM_047431537.1:c.253G>A, XM_047431539.1:c.253G>A, XM_047431538.1:c.253G>A, XM_047431532.1:c.451G>A, XM_047431531.1:c.451G>A, XM_047431530.1:c.532G>A, XM_047431535.1:c.430G>A, XM_047431533.1:c.532G>A, XM_047431541.1:c.253G>A, XM_047431534.1:c.532G>A, XM_047431540.1:c.253G>A, NM_178588.1:c.478G>A, NP_002710.2:p.Asp160Asn, NP_848701.1:p.Asp160Asn, NP_848702.1:p.Asp160Asn, NP_001339842.1:p.Asp215Asn, NP_001155197.1:p.Asp191Asn, NP_001155198.1:p.Asp215Asn, NP_001339843.1:p.Asp220Asn, NP_001339845.1:p.Asp85Asn, NP_001339844.1:p.Asp85Asn, NP_001339841.1:p.Asp160Asn, XP_016876912.1:p.Asp160Asn, XP_011535220.1:p.Asp144Asn, XP_005267876.1:p.Asp220Asn, XP_005267883.1:p.Asp136Asn, XP_011535222.1:p.Asp85Asn, XP_005267884.1:p.Asp85Asn, XP_005267881.1:p.Asp220Asn, XP_047287492.1:p.Asp85Asn, XP_047287493.1:p.Asp85Asn, XP_047287495.1:p.Asp85Asn, XP_047287494.1:p.Asp85Asn, XP_047287488.1:p.Asp151Asn, XP_047287487.1:p.Asp151Asn, XP_047287486.1:p.Asp178Asn, XP_047287491.1:p.Asp144Asn, XP_047287489.1:p.Asp178Asn, XP_047287497.1:p.Asp85Asn, XP_047287490.1:p.Asp178Asn, XP_047287496.1:p.Asp85Asn

                    10.

                    rs1447299615 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      14:101893042 (GRCh38)
                      14:102359379 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:101893041:G:A
                      Gene:
                      PPP2R5C (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000014.9:g.101893042G>A, NC_000014.8:g.102359379G>A, NG_047069.1:g.137470G>A, NM_002719.4:c.732G>A, NM_002719.3:c.732G>A, NM_178586.3:c.732G>A, NM_178586.2:c.732G>A, NM_178587.3:c.732G>A, NM_178587.2:c.732G>A, NM_001352913.2:c.897G>A, NM_001352913.1:c.897G>A, NM_001161725.2:c.825G>A, NM_001161725.1:c.825G>A, NM_001161726.2:c.897G>A, NM_001161726.1:c.897G>A, NM_001352914.2:c.912G>A, NM_001352914.1:c.912G>A, NM_001352916.2:c.507G>A, NM_001352916.1:c.507G>A, NM_001352915.2:c.507G>A, NM_001352915.1:c.507G>A, NM_001352912.1:c.732G>A, XM_017021423.3:c.732G>A, XM_017021423.2:c.732G>A, XM_017021423.1:c.732G>A, XM_011536918.2:c.684G>A, XM_011536918.1:c.684G>A, XM_005267819.2:c.912G>A, XM_005267819.1:c.912G>A, XM_005267826.2:c.660G>A, XM_005267826.1:c.660G>A, XM_011536920.2:c.507G>A, XM_011536920.1:c.507G>A, XM_005267827.2:c.507G>A, XM_005267827.1:c.507G>A, XM_005267824.2:c.912G>A, XM_005267824.1:c.912G>A, XM_047431536.1:c.507G>A, XM_047431537.1:c.507G>A, XM_047431539.1:c.507G>A, XM_047431538.1:c.507G>A, XM_047431532.1:c.705G>A, XM_047431531.1:c.705G>A, XM_047431530.1:c.786G>A, XM_047431535.1:c.684G>A, XM_047431533.1:c.786G>A, XM_047431541.1:c.507G>A, XM_047431534.1:c.786G>A, XM_047431540.1:c.507G>A, NM_178588.1:c.732G>A

                      11.

                      rs1446561504 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        14:101917946 (GRCh38)
                        14:102384283 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:101917945:A:G
                        Gene:
                        PPP2R5C (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000014.9:g.101917946A>G, NC_000014.8:g.102384283A>G, NG_047069.1:g.162374A>G, NM_002719.4:c.1442A>G, NM_002719.3:c.1442A>G, NM_001352913.2:c.1607A>G, NM_001352913.1:c.1607A>G, NM_001161725.2:c.1535A>G, NM_001161725.1:c.1535A>G, NM_001352915.2:c.1217A>G, NM_001352915.1:c.1217A>G, XM_011536918.2:c.1394A>G, XM_011536918.1:c.1394A>G, XM_005267819.2:c.1622A>G, XM_005267819.1:c.1622A>G, XM_005267826.2:c.1370A>G, XM_005267826.1:c.1370A>G, XM_011536920.2:c.1217A>G, XM_011536920.1:c.1217A>G, XM_005267827.2:c.1217A>G, XM_005267827.1:c.1217A>G, XM_047431536.1:c.1217A>G, XM_047431537.1:c.1217A>G, XM_047431539.1:c.1217A>G, XM_047431538.1:c.1217A>G, XM_047431532.1:c.1415A>G, XM_047431531.1:c.1415A>G, XM_047431530.1:c.1496A>G, XM_047431541.1:c.1217A>G, NP_002710.2:p.Gln481Arg, NP_001339842.1:p.Gln536Arg, NP_001155197.1:p.Gln512Arg, NP_001339844.1:p.Gln406Arg, XP_011535220.1:p.Gln465Arg, XP_005267876.1:p.Gln541Arg, XP_005267883.1:p.Gln457Arg, XP_011535222.1:p.Gln406Arg, XP_005267884.1:p.Gln406Arg, XP_047287492.1:p.Gln406Arg, XP_047287493.1:p.Gln406Arg, XP_047287495.1:p.Gln406Arg, XP_047287494.1:p.Gln406Arg, XP_047287488.1:p.Gln472Arg, XP_047287487.1:p.Gln472Arg, XP_047287486.1:p.Gln499Arg, XP_047287497.1:p.Gln406Arg

                        12.

                        rs1443057516 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          14:101901882 (GRCh38)
                          14:102368219 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:101901881:A:G
                          Gene:
                          PPP2R5C (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000014.9:g.101901882A>G, NC_000014.8:g.102368219A>G, NG_047069.1:g.146310A>G, NM_002719.4:c.1016A>G, NM_002719.3:c.1016A>G, NM_178586.3:c.1016A>G, NM_178586.2:c.1016A>G, NM_178587.3:c.1016A>G, NM_178587.2:c.1016A>G, NM_001352913.2:c.1181A>G, NM_001352913.1:c.1181A>G, NM_001161725.2:c.1109A>G, NM_001161725.1:c.1109A>G, NM_001161726.2:c.1181A>G, NM_001161726.1:c.1181A>G, NM_001352914.2:c.1196A>G, NM_001352914.1:c.1196A>G, NM_001352916.2:c.791A>G, NM_001352916.1:c.791A>G, NM_001352915.2:c.791A>G, NM_001352915.1:c.791A>G, NM_001352912.1:c.1016A>G, XM_017021423.3:c.1016A>G, XM_017021423.2:c.1016A>G, XM_017021423.1:c.1016A>G, XM_011536918.2:c.968A>G, XM_011536918.1:c.968A>G, XM_005267819.2:c.1196A>G, XM_005267819.1:c.1196A>G, XM_005267826.2:c.944A>G, XM_005267826.1:c.944A>G, XM_011536920.2:c.791A>G, XM_011536920.1:c.791A>G, XM_005267827.2:c.791A>G, XM_005267827.1:c.791A>G, XM_005267824.2:c.1196A>G, XM_005267824.1:c.1196A>G, XM_047431536.1:c.791A>G, XM_047431537.1:c.791A>G, XM_047431539.1:c.791A>G, XM_047431538.1:c.791A>G, XM_047431532.1:c.989A>G, XM_047431531.1:c.989A>G, XM_047431530.1:c.1070A>G, XM_047431535.1:c.968A>G, XM_047431533.1:c.1070A>G, XM_047431541.1:c.791A>G, XM_047431534.1:c.1070A>G, XM_047431540.1:c.791A>G, NM_178588.1:c.1016A>G, NP_002710.2:p.His339Arg, NP_848701.1:p.His339Arg, NP_848702.1:p.His339Arg, NP_001339842.1:p.His394Arg, NP_001155197.1:p.His370Arg, NP_001155198.1:p.His394Arg, NP_001339843.1:p.His399Arg, NP_001339845.1:p.His264Arg, NP_001339844.1:p.His264Arg, NP_001339841.1:p.His339Arg, XP_016876912.1:p.His339Arg, XP_011535220.1:p.His323Arg, XP_005267876.1:p.His399Arg, XP_005267883.1:p.His315Arg, XP_011535222.1:p.His264Arg, XP_005267884.1:p.His264Arg, XP_005267881.1:p.His399Arg, XP_047287492.1:p.His264Arg, XP_047287493.1:p.His264Arg, XP_047287495.1:p.His264Arg, XP_047287494.1:p.His264Arg, XP_047287488.1:p.His330Arg, XP_047287487.1:p.His330Arg, XP_047287486.1:p.His357Arg, XP_047287491.1:p.His323Arg, XP_047287489.1:p.His357Arg, XP_047287497.1:p.His264Arg, XP_047287490.1:p.His357Arg, XP_047287496.1:p.His264Arg

                          13.

                          rs1439666069 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            14:101882241 (GRCh38)
                            14:102348578 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:101882240:A:G
                            Gene:
                            PPP2R5C (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000008/2 (TOPMED)
                            G=0.000071/1 (TOMMO)
                            HGVS:
                            NC_000014.9:g.101882241A>G, NC_000014.8:g.102348578A>G, NG_047069.1:g.126669A>G, NM_002719.4:c.375A>G, NM_002719.3:c.375A>G, NM_178586.3:c.375A>G, NM_178586.2:c.375A>G, NM_178587.3:c.375A>G, NM_178587.2:c.375A>G, NM_001352913.2:c.540A>G, NM_001352913.1:c.540A>G, NM_001161725.2:c.468A>G, NM_001161725.1:c.468A>G, NM_001161726.2:c.540A>G, NM_001161726.1:c.540A>G, NM_001352914.2:c.555A>G, NM_001352914.1:c.555A>G, NM_001352916.2:c.150A>G, NM_001352916.1:c.150A>G, NM_001352915.2:c.150A>G, NM_001352915.1:c.150A>G, NM_001352912.1:c.375A>G, XM_017021423.3:c.375A>G, XM_017021423.2:c.375A>G, XM_017021423.1:c.375A>G, XM_011536918.2:c.327A>G, XM_011536918.1:c.327A>G, XM_005267819.2:c.555A>G, XM_005267819.1:c.555A>G, XM_005267826.2:c.303A>G, XM_005267826.1:c.303A>G, XM_011536920.2:c.150A>G, XM_011536920.1:c.150A>G, XM_005267827.2:c.150A>G, XM_005267827.1:c.150A>G, XM_005267824.2:c.555A>G, XM_005267824.1:c.555A>G, XM_047431536.1:c.150A>G, XM_047431537.1:c.150A>G, XM_047431539.1:c.150A>G, XM_047431538.1:c.150A>G, XM_047431532.1:c.348A>G, XM_047431531.1:c.348A>G, XM_047431530.1:c.429A>G, XM_047431535.1:c.327A>G, XM_047431533.1:c.429A>G, XM_047431541.1:c.150A>G, XM_047431534.1:c.429A>G, XM_047431540.1:c.150A>G, NM_178588.1:c.375A>G

                            14.

                            rs1434798634 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              14:101882180 (GRCh38)
                              14:102348517 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:101882179:G: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.101882180G>T, NC_000014.8:g.102348517G>T, NG_047069.1:g.126608G>T, NM_002719.4:c.314G>T, NM_002719.3:c.314G>T, NM_178586.3:c.314G>T, NM_178586.2:c.314G>T, NM_178587.3:c.314G>T, NM_178587.2:c.314G>T, NM_001352913.2:c.479G>T, NM_001352913.1:c.479G>T, NM_001161725.2:c.407G>T, NM_001161725.1:c.407G>T, NM_001161726.2:c.479G>T, NM_001161726.1:c.479G>T, NM_001352914.2:c.494G>T, NM_001352914.1:c.494G>T, NM_001352916.2:c.89G>T, NM_001352916.1:c.89G>T, NM_001352915.2:c.89G>T, NM_001352915.1:c.89G>T, NM_001352912.1:c.314G>T, XM_017021423.3:c.314G>T, XM_017021423.2:c.314G>T, XM_017021423.1:c.314G>T, XM_011536918.2:c.266G>T, XM_011536918.1:c.266G>T, XM_005267819.2:c.494G>T, XM_005267819.1:c.494G>T, XM_005267826.2:c.242G>T, XM_005267826.1:c.242G>T, XM_011536920.2:c.89G>T, XM_011536920.1:c.89G>T, XM_005267827.2:c.89G>T, XM_005267827.1:c.89G>T, XM_005267824.2:c.494G>T, XM_005267824.1:c.494G>T, XM_047431536.1:c.89G>T, XM_047431537.1:c.89G>T, XM_047431539.1:c.89G>T, XM_047431538.1:c.89G>T, XM_047431532.1:c.287G>T, XM_047431531.1:c.287G>T, XM_047431530.1:c.368G>T, XM_047431535.1:c.266G>T, XM_047431533.1:c.368G>T, XM_047431541.1:c.89G>T, XM_047431534.1:c.368G>T, XM_047431540.1:c.89G>T, NM_178588.1:c.314G>T, NP_002710.2:p.Arg105Leu, NP_848701.1:p.Arg105Leu, NP_848702.1:p.Arg105Leu, NP_001339842.1:p.Arg160Leu, NP_001155197.1:p.Arg136Leu, NP_001155198.1:p.Arg160Leu, NP_001339843.1:p.Arg165Leu, NP_001339845.1:p.Arg30Leu, NP_001339844.1:p.Arg30Leu, NP_001339841.1:p.Arg105Leu, XP_016876912.1:p.Arg105Leu, XP_011535220.1:p.Arg89Leu, XP_005267876.1:p.Arg165Leu, XP_005267883.1:p.Arg81Leu, XP_011535222.1:p.Arg30Leu, XP_005267884.1:p.Arg30Leu, XP_005267881.1:p.Arg165Leu, XP_047287492.1:p.Arg30Leu, XP_047287493.1:p.Arg30Leu, XP_047287495.1:p.Arg30Leu, XP_047287494.1:p.Arg30Leu, XP_047287488.1:p.Arg96Leu, XP_047287487.1:p.Arg96Leu, XP_047287486.1:p.Arg123Leu, XP_047287491.1:p.Arg89Leu, XP_047287489.1:p.Arg123Leu, XP_047287497.1:p.Arg30Leu, XP_047287490.1:p.Arg123Leu, XP_047287496.1:p.Arg30Leu

                              15.

                              rs1433996718 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                14:101901748 (GRCh38)
                                14:102368085 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:101901747:A:G
                                Gene:
                                PPP2R5C (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000012/3 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.101901748A>G, NC_000014.8:g.102368085A>G, NG_047069.1:g.146176A>G, NM_002719.4:c.882A>G, NM_002719.3:c.882A>G, NM_178586.3:c.882A>G, NM_178586.2:c.882A>G, NM_178587.3:c.882A>G, NM_178587.2:c.882A>G, NM_001352913.2:c.1047A>G, NM_001352913.1:c.1047A>G, NM_001161725.2:c.975A>G, NM_001161725.1:c.975A>G, NM_001161726.2:c.1047A>G, NM_001161726.1:c.1047A>G, NM_001352914.2:c.1062A>G, NM_001352914.1:c.1062A>G, NM_001352916.2:c.657A>G, NM_001352916.1:c.657A>G, NM_001352915.2:c.657A>G, NM_001352915.1:c.657A>G, NM_001352912.1:c.882A>G, XM_017021423.3:c.882A>G, XM_017021423.2:c.882A>G, XM_017021423.1:c.882A>G, XM_011536918.2:c.834A>G, XM_011536918.1:c.834A>G, XM_005267819.2:c.1062A>G, XM_005267819.1:c.1062A>G, XM_005267826.2:c.810A>G, XM_005267826.1:c.810A>G, XM_011536920.2:c.657A>G, XM_011536920.1:c.657A>G, XM_005267827.2:c.657A>G, XM_005267827.1:c.657A>G, XM_005267824.2:c.1062A>G, XM_005267824.1:c.1062A>G, XM_047431536.1:c.657A>G, XM_047431537.1:c.657A>G, XM_047431539.1:c.657A>G, XM_047431538.1:c.657A>G, XM_047431532.1:c.855A>G, XM_047431531.1:c.855A>G, XM_047431530.1:c.936A>G, XM_047431535.1:c.834A>G, XM_047431533.1:c.936A>G, XM_047431541.1:c.657A>G, XM_047431534.1:c.936A>G, XM_047431540.1:c.657A>G, NM_178588.1:c.882A>G

                                16.

                                rs1432343470 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  14:101890289 (GRCh38)
                                  14:102356626 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:101890288:T:C
                                  Gene:
                                  PPP2R5C (Varview)
                                  Functional Consequence:
                                  synonymous_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)
                                  C=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000014.9:g.101890289T>C, NC_000014.8:g.102356626T>C, NG_047069.1:g.134717T>C, NM_002719.4:c.682T>C, NM_002719.3:c.682T>C, NM_178586.3:c.682T>C, NM_178586.2:c.682T>C, NM_178587.3:c.682T>C, NM_178587.2:c.682T>C, NM_001352913.2:c.847T>C, NM_001352913.1:c.847T>C, NM_001161725.2:c.775T>C, NM_001161725.1:c.775T>C, NM_001161726.2:c.847T>C, NM_001161726.1:c.847T>C, NM_001352914.2:c.862T>C, NM_001352914.1:c.862T>C, NM_001352916.2:c.457T>C, NM_001352916.1:c.457T>C, NM_001352915.2:c.457T>C, NM_001352915.1:c.457T>C, NM_001352912.1:c.682T>C, XM_017021423.3:c.682T>C, XM_017021423.2:c.682T>C, XM_017021423.1:c.682T>C, XM_011536918.2:c.634T>C, XM_011536918.1:c.634T>C, XM_005267819.2:c.862T>C, XM_005267819.1:c.862T>C, XM_005267826.2:c.610T>C, XM_005267826.1:c.610T>C, XM_011536920.2:c.457T>C, XM_011536920.1:c.457T>C, XM_005267827.2:c.457T>C, XM_005267827.1:c.457T>C, XM_005267824.2:c.862T>C, XM_005267824.1:c.862T>C, XM_047431536.1:c.457T>C, XM_047431537.1:c.457T>C, XM_047431539.1:c.457T>C, XM_047431538.1:c.457T>C, XM_047431532.1:c.655T>C, XM_047431531.1:c.655T>C, XM_047431530.1:c.736T>C, XM_047431535.1:c.634T>C, XM_047431533.1:c.736T>C, XM_047431541.1:c.457T>C, XM_047431534.1:c.736T>C, XM_047431540.1:c.457T>C, NM_178588.1:c.682T>C

                                  17.

                                  rs1431805527 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    14:101917947 (GRCh38)
                                    14:102384284 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:101917946:G:A
                                    Gene:
                                    PPP2R5C (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:

                                    18.

                                    rs1427757914 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:101925169 (GRCh38)
                                      14:102391506 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:101925168:C:T
                                      Gene:
                                      PPP2R5C (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000014.9:g.101925169C>T, NC_000014.8:g.102391506C>T, NG_047069.1:g.169597C>T, NM_002719.4:c.1472C>T, NM_002719.3:c.1472C>T, NM_178586.3:c.1355C>T, NM_178586.2:c.1355C>T, NM_001352913.2:c.1637C>T, NM_001352913.1:c.1637C>T, NM_001161725.2:c.1565C>T, NM_001161725.1:c.1565C>T, NM_001161726.2:c.1520C>T, NM_001161726.1:c.1520C>T, NM_001352914.2:c.1535C>T, NM_001352914.1:c.1535C>T, NM_001352916.2:c.1130C>T, NM_001352916.1:c.1130C>T, NM_001352915.2:c.1247C>T, NM_001352915.1:c.1247C>T, NM_001352912.1:c.1355C>T, XM_017021423.3:c.1282C>T, XM_017021423.2:c.1282C>T, XM_017021423.1:c.1282C>T, XM_011536918.2:c.1424C>T, XM_011536918.1:c.1424C>T, XM_005267819.2:c.1652C>T, XM_005267819.1:c.1652C>T, XM_005267826.2:c.1400C>T, XM_005267826.1:c.1400C>T, XM_011536920.2:c.1247C>T, XM_011536920.1:c.1247C>T, XM_005267827.2:c.1247C>T, XM_005267827.1:c.1247C>T, XM_005267824.2:c.1462C>T, XM_005267824.1:c.1462C>T, XM_047431536.1:c.1247C>T, XM_047431537.1:c.1247C>T, XM_047431539.1:c.1247C>T, XM_047431538.1:c.1247C>T, XM_047431532.1:c.1445C>T, XM_047431531.1:c.1445C>T, XM_047431530.1:c.1526C>T, XM_047431535.1:c.1234C>T, XM_047431533.1:c.1409C>T, XM_047431541.1:c.1247C>T, XM_047431534.1:c.1336C>T, XM_047431540.1:c.1130C>T, NP_002710.2:p.Pro491Leu, NP_848701.1:p.Pro452Leu, NP_001339842.1:p.Pro546Leu, NP_001155197.1:p.Pro522Leu, NP_001155198.1:p.Pro507Leu, NP_001339843.1:p.Pro512Leu, NP_001339845.1:p.Pro377Leu, NP_001339844.1:p.Pro416Leu, NP_001339841.1:p.Pro452Leu, XP_016876912.1:p.Leu428Phe, XP_011535220.1:p.Pro475Leu, XP_005267876.1:p.Pro551Leu, XP_005267883.1:p.Pro467Leu, XP_011535222.1:p.Pro416Leu, XP_005267884.1:p.Pro416Leu, XP_005267881.1:p.Leu488Phe, XP_047287492.1:p.Pro416Leu, XP_047287493.1:p.Pro416Leu, XP_047287495.1:p.Pro416Leu, XP_047287494.1:p.Pro416Leu, XP_047287488.1:p.Pro482Leu, XP_047287487.1:p.Pro482Leu, XP_047287486.1:p.Pro509Leu, XP_047287491.1:p.Leu412Phe, XP_047287489.1:p.Pro470Leu, XP_047287497.1:p.Pro416Leu, XP_047287490.1:p.Leu446Phe, XP_047287496.1:p.Pro377Leu

                                      19.

                                      rs1425557959 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        14:101917930 (GRCh38)
                                        14:102384267 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:101917929:A:G
                                        Gene:
                                        PPP2R5C (Varview)
                                        Functional Consequence:
                                        missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000014.9:g.101917930A>G, NC_000014.8:g.102384267A>G, NG_047069.1:g.162358A>G, NM_002719.4:c.1426A>G, NM_002719.3:c.1426A>G, NM_001352913.2:c.1591A>G, NM_001352913.1:c.1591A>G, NM_001161725.2:c.1519A>G, NM_001161725.1:c.1519A>G, NM_001352915.2:c.1201A>G, NM_001352915.1:c.1201A>G, XM_011536918.2:c.1378A>G, XM_011536918.1:c.1378A>G, XM_005267819.2:c.1606A>G, XM_005267819.1:c.1606A>G, XM_005267826.2:c.1354A>G, XM_005267826.1:c.1354A>G, XM_011536920.2:c.1201A>G, XM_011536920.1:c.1201A>G, XM_005267827.2:c.1201A>G, XM_005267827.1:c.1201A>G, XM_047431536.1:c.1201A>G, XM_047431537.1:c.1201A>G, XM_047431539.1:c.1201A>G, XM_047431538.1:c.1201A>G, XM_047431532.1:c.1399A>G, XM_047431531.1:c.1399A>G, XM_047431530.1:c.1480A>G, XM_047431541.1:c.1201A>G, NP_002710.2:p.Lys476Glu, NP_001339842.1:p.Lys531Glu, NP_001155197.1:p.Lys507Glu, NP_001339844.1:p.Lys401Glu, XP_011535220.1:p.Lys460Glu, XP_005267876.1:p.Lys536Glu, XP_005267883.1:p.Lys452Glu, XP_011535222.1:p.Lys401Glu, XP_005267884.1:p.Lys401Glu, XP_047287492.1:p.Lys401Glu, XP_047287493.1:p.Lys401Glu, XP_047287495.1:p.Lys401Glu, XP_047287494.1:p.Lys401Glu, XP_047287488.1:p.Lys467Glu, XP_047287487.1:p.Lys467Glu, XP_047287486.1:p.Lys494Glu, XP_047287497.1:p.Lys401Glu

                                        20.

                                        rs1417648807 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          14:101912444 (GRCh38)
                                          14:102378781 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:101912443:A:G
                                          Gene:
                                          PPP2R5C (Varview)
                                          Functional Consequence:
                                          missense_variant,intron_variant,coding_sequence_variant
                                          HGVS:
                                          NC_000014.9:g.101912444A>G, NC_000014.8:g.102378781A>G, NG_047069.1:g.156872A>G, NM_002719.4:c.1297A>G, NM_002719.3:c.1297A>G, NM_178586.3:c.1297A>G, NM_178586.2:c.1297A>G, NM_178587.3:c.1297A>G, NM_178587.2:c.1297A>G, NM_001352913.2:c.1462A>G, NM_001352913.1:c.1462A>G, NM_001161725.2:c.1390A>G, NM_001161725.1:c.1390A>G, NM_001161726.2:c.1462A>G, NM_001161726.1:c.1462A>G, NM_001352914.2:c.1477A>G, NM_001352914.1:c.1477A>G, NM_001352916.2:c.1072A>G, NM_001352916.1:c.1072A>G, NM_001352915.2:c.1072A>G, NM_001352915.1:c.1072A>G, NM_001352912.1:c.1297A>G, XM_011536918.2:c.1249A>G, XM_011536918.1:c.1249A>G, XM_005267819.2:c.1477A>G, XM_005267819.1:c.1477A>G, XM_005267826.2:c.1225A>G, XM_005267826.1:c.1225A>G, XM_011536920.2:c.1072A>G, XM_011536920.1:c.1072A>G, XM_005267827.2:c.1072A>G, XM_005267827.1:c.1072A>G, XM_047431536.1:c.1072A>G, XM_047431537.1:c.1072A>G, XM_047431539.1:c.1072A>G, XM_047431538.1:c.1072A>G, XM_047431532.1:c.1270A>G, XM_047431531.1:c.1270A>G, XM_047431530.1:c.1351A>G, XM_047431533.1:c.1351A>G, XM_047431541.1:c.1072A>G, XM_047431540.1:c.1072A>G, NP_002710.2:p.Ile433Val, NP_848701.1:p.Ile433Val, NP_848702.1:p.Ile433Val, NP_001339842.1:p.Ile488Val, NP_001155197.1:p.Ile464Val, NP_001155198.1:p.Ile488Val, NP_001339843.1:p.Ile493Val, NP_001339845.1:p.Ile358Val, NP_001339844.1:p.Ile358Val, NP_001339841.1:p.Ile433Val, XP_011535220.1:p.Ile417Val, XP_005267876.1:p.Ile493Val, XP_005267883.1:p.Ile409Val, XP_011535222.1:p.Ile358Val, XP_005267884.1:p.Ile358Val, XP_047287492.1:p.Ile358Val, XP_047287493.1:p.Ile358Val, XP_047287495.1:p.Ile358Val, XP_047287494.1:p.Ile358Val, XP_047287488.1:p.Ile424Val, XP_047287487.1:p.Ile424Val, XP_047287486.1:p.Ile451Val, XP_047287489.1:p.Ile451Val, XP_047287497.1:p.Ile358Val, XP_047287496.1:p.Ile358Val

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