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Items: 1 to 20 of 466

1.

rs1489706837 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:43583498 (GRCh38)
    15:43875696 (GRCh37)
    Canonical SPDI:
    NC_000015.10:43583497:G:A
    Gene:
    PPIP5K1 (Varview)
    Functional Consequence:
    5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.00023/1 (ALFA)
    A=0.00003/1 (GnomAD_exomes)
    HGVS:
    NC_000015.10:g.43583498G>A, NC_000015.9:g.43875696G>A, NG_022929.1:g.11756C>T, NM_014659.6:c.249C>T, NM_014659.5:c.249C>T, NM_001130858.4:c.249C>T, NM_001130858.3:c.249C>T, NM_001130858.2:c.249C>T, NM_001354382.3:c.249C>T, NM_001354382.2:c.249C>T, NM_001354382.1:c.249C>T, NM_001130859.3:c.249C>T, NM_001130859.2:c.249C>T, NM_001354401.2:c.-3259C>T, NM_001354401.1:c.-3259C>T, NM_001354402.2:c.-3218C>T, NM_001354402.1:c.-3218C>T, NM_001354383.2:c.249C>T, NM_001354383.1:c.249C>T, NM_001354385.2:c.249C>T, NM_001354385.1:c.249C>T, NM_001354392.2:c.249C>T, NM_001354392.1:c.249C>T, NM_001354386.2:c.249C>T, NM_001354386.1:c.249C>T, NM_001354387.2:c.249C>T, NM_001354387.1:c.249C>T, NM_001354388.2:c.249C>T, NM_001354388.1:c.249C>T, NM_001354384.2:c.249C>T, NM_001354384.1:c.249C>T, NM_001354389.2:c.249C>T, NM_001354389.1:c.249C>T, NM_001354400.2:c.-558C>T, NM_001354400.1:c.-558C>T, NM_001354399.2:c.-558C>T, NM_001354399.1:c.-558C>T, NM_001190214.2:c.249C>T, NM_001190214.1:c.249C>T, NM_001354393.2:c.249C>T, NM_001354393.1:c.249C>T, NM_001354390.2:c.249C>T, NM_001354390.1:c.249C>T, NM_001354398.2:c.-558C>T, NM_001354398.1:c.-558C>T, NM_001354394.2:c.249C>T, NM_001354394.1:c.249C>T, NM_001354391.2:c.249C>T, NM_001354391.1:c.249C>T, NM_001354397.2:c.249C>T, NM_001354397.1:c.249C>T, NM_001354395.2:c.249C>T, NM_001354395.1:c.249C>T, NM_001354396.2:c.249C>T, NM_001354396.1:c.249C>T, NM_001394395.1:c.249C>T, NM_001393970.1:c.249C>T, NM_001393969.1:c.249C>T, NM_001393971.1:c.249C>T, XM_006720786.3:c.249C>T, XM_006720786.2:c.249C>T, XM_006720786.1:c.249C>T, NM_001024463.3:c.249C>T, XM_017022736.2:c.249C>T, XM_017022736.1:c.249C>T, XM_011522252.2:c.249C>T, XM_011522252.1:c.249C>T, XM_011522250.2:c.249C>T, XM_011522250.1:c.249C>T, XM_017022737.2:c.249C>T, XM_017022737.1:c.249C>T, XM_011522254.2:c.249C>T, XM_011522254.1:c.249C>T, XM_017022753.2:c.249C>T, XM_017022753.1:c.249C>T, XM_017022754.2:c.249C>T, XM_017022754.1:c.249C>T, XM_017022747.2:c.249C>T, XM_017022747.1:c.249C>T, NM_001024463.2:c.249C>T, XM_047433378.1:c.249C>T, XM_047433376.1:c.249C>T, XM_011522249.1:c.249C>T, XM_047433379.1:c.249C>T, XM_047433377.1:c.249C>T, XM_047433383.1:c.249C>T, XM_047433382.1:c.249C>T, XM_047433385.1:c.249C>T, XM_047433386.1:c.249C>T, XM_047433380.1:c.249C>T, XM_005254804.1:c.249C>T, XM_047433381.1:c.249C>T, XM_047433384.1:c.249C>T, XM_047433389.1:c.249C>T, XM_047433387.1:c.249C>T, XM_047433388.1:c.249C>T, XM_047433390.1:c.249C>T, NM_001024463.1:c.249C>T

    2.

    rs1486752156 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      15:43534904 (GRCh38)
      15:43827102 (GRCh37)
      Canonical SPDI:
      NC_000015.10:43534903:C:G
      Gene:
      PPIP5K1 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000015.10:g.43534904C>G, NC_000015.9:g.43827102C>G, NG_022929.1:g.60350G>C, NM_014659.6:c.3997G>C, NM_014659.5:c.3997G>C, NM_001130858.4:c.4072G>C, NM_001130858.3:c.4072G>C, NM_001130858.2:c.4072G>C, NM_001354382.3:c.4060G>C, NM_001354382.2:c.4060G>C, NM_001354382.1:c.4060G>C, NM_001130859.3:c.3997G>C, NM_001130859.2:c.3997G>C, NM_001354401.2:c.2068G>C, NM_001354401.1:c.2068G>C, NM_001354402.2:c.1981G>C, NM_001354402.1:c.1981G>C, NM_001354383.2:c.4060G>C, NM_001354383.1:c.4060G>C, NM_001354385.2:c.4060G>C, NM_001354385.1:c.4060G>C, NM_001354392.2:c.3997G>C, NM_001354392.1:c.3997G>C, NM_001354386.2:c.4060G>C, NM_001354386.1:c.4060G>C, NM_001354387.2:c.4036G>C, NM_001354387.1:c.4036G>C, NM_001354388.2:c.4036G>C, NM_001354388.1:c.4036G>C, NM_001354384.2:c.4060G>C, NM_001354384.1:c.4060G>C, NM_001354389.2:c.4036G>C, NM_001354389.1:c.4036G>C, NM_001354400.2:c.3232G>C, NM_001354400.1:c.3232G>C, NM_001354399.2:c.3232G>C, NM_001354399.1:c.3232G>C, NM_001190214.2:c.3991G>C, NM_001190214.1:c.3991G>C, NM_001354393.2:c.3973G>C, NM_001354393.1:c.3973G>C, NM_001354390.2:c.3997G>C, NM_001354390.1:c.3997G>C, NM_001354398.2:c.3232G>C, NM_001354398.1:c.3232G>C, NM_001354394.2:c.3913G>C, NM_001354394.1:c.3913G>C, NM_001354391.2:c.3997G>C, NM_001354391.1:c.3997G>C, NM_001354397.2:c.3871G>C, NM_001354397.1:c.3871G>C, NM_001354395.2:c.3871G>C, NM_001354395.1:c.3871G>C, NM_001354396.2:c.3871G>C, NM_001354396.1:c.3871G>C, NM_001394395.1:c.4243G>C, NM_001393970.1:c.4147G>C, NM_001393969.1:c.4147G>C, NM_001393971.1:c.4123G>C, XM_006720786.3:c.3871G>C, XM_006720786.2:c.3871G>C, XM_006720786.1:c.3871G>C, NM_001024463.3:c.3355G>C, XM_017022736.2:c.4210G>C, XM_017022736.1:c.4210G>C, XM_011522252.2:c.4210G>C, XM_011522252.1:c.4210G>C, XM_011522250.2:c.4210G>C, XM_011522250.1:c.4210G>C, XM_017022737.2:c.4210G>C, XM_017022737.1:c.4210G>C, XM_011522254.2:c.4210G>C, XM_011522254.1:c.4210G>C, XM_017022753.2:c.3973G>C, XM_017022753.1:c.3973G>C, XM_017022754.2:c.3871G>C, XM_017022754.1:c.3871G>C, XM_017022747.2:c.4021G>C, XM_017022747.1:c.4021G>C, XM_011522258.2:c.3445G>C, XM_011522258.1:c.3445G>C, NM_001024463.2:c.3355G>C, XM_047433378.1:c.4210G>C, XM_047433376.1:c.4210G>C, XM_011522249.1:c.4210G>C, XM_047433379.1:c.4186G>C, XM_047433377.1:c.4210G>C, XM_047433383.1:c.4036G>C, XM_047433382.1:c.4060G>C, XM_047433385.1:c.3997G>C, XM_047433386.1:c.3973G>C, XM_047433380.1:c.4147G>C, XM_005254804.1:c.3997G>C, XM_047433381.1:c.4060G>C, XM_047433384.1:c.4036G>C, XM_047433389.1:c.3871G>C, XM_047433387.1:c.3973G>C, XM_047433388.1:c.3871G>C, XM_047433390.1:c.3847G>C, NM_001024463.1:c.3355G>C, NP_055474.3:p.Gly1333Arg, NP_001124330.1:p.Gly1358Arg, NP_001341311.1:p.Gly1354Arg, NP_001124331.1:p.Gly1333Arg, NP_001341330.1:p.Gly690Arg, NP_001341331.1:p.Gly661Arg, NP_001341312.1:p.Gly1354Arg, NP_001341314.1:p.Gly1354Arg, NP_001341321.1:p.Gly1333Arg, NP_001341315.1:p.Gly1354Arg, NP_001341316.1:p.Gly1346Arg, NP_001341317.1:p.Gly1346Arg, NP_001341313.1:p.Gly1354Arg, NP_001341318.1:p.Gly1346Arg, NP_001341329.1:p.Gly1078Arg, NP_001341328.1:p.Gly1078Arg, NP_001177143.1:p.Gly1331Arg, NP_001341322.1:p.Gly1325Arg, NP_001341319.1:p.Gly1333Arg, NP_001341327.1:p.Gly1078Arg, NP_001341323.1:p.Gly1305Arg, NP_001341320.1:p.Gly1333Arg, NP_001341326.1:p.Gly1291Arg, NP_001341324.1:p.Gly1291Arg, NP_001341325.1:p.Gly1291Arg, NP_001381324.1:p.Gly1415Arg, NP_001380899.1:p.Gly1383Arg, NP_001380898.1:p.Gly1383Arg, NP_001380900.1:p.Gly1375Arg, XP_006720849.1:p.Gly1291Arg, XP_016878225.1:p.Gly1404Arg, XP_011520554.1:p.Gly1404Arg, XP_011520552.1:p.Gly1404Arg, XP_016878226.1:p.Gly1404Arg, XP_011520556.1:p.Gly1404Arg, XP_016878242.1:p.Gly1325Arg, XP_016878243.1:p.Gly1291Arg, XP_016878236.1:p.Gly1341Arg, XP_011520560.1:p.Gly1149Arg, XP_047289334.1:p.Gly1404Arg, XP_047289332.1:p.Gly1404Arg, XP_011520551.1:p.Gly1404Arg, XP_047289335.1:p.Gly1396Arg, XP_047289333.1:p.Gly1404Arg, XP_047289339.1:p.Gly1346Arg, XP_047289338.1:p.Gly1354Arg, XP_047289341.1:p.Gly1333Arg, XP_047289342.1:p.Gly1325Arg, XP_047289336.1:p.Gly1383Arg, XP_005254861.1:p.Gly1333Arg, XP_047289337.1:p.Gly1354Arg, XP_047289340.1:p.Gly1346Arg, XP_047289345.1:p.Gly1291Arg, XP_047289343.1:p.Gly1325Arg, XP_047289344.1:p.Gly1291Arg, XP_047289346.1:p.Gly1283Arg

      3.

      rs1484980773 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        15:43534772 (GRCh38)
        15:43826970 (GRCh37)
        Canonical SPDI:
        NC_000015.10:43534771:G:A
        Gene:
        PPIP5K1 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        A=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000015.10:g.43534772G>A, NC_000015.9:g.43826970G>A, NG_022929.1:g.60482C>T, NM_014659.6:c.4129C>T, NM_014659.5:c.4129C>T, NM_001130858.4:c.4204C>T, NM_001130858.3:c.4204C>T, NM_001130858.2:c.4204C>T, NM_001354382.3:c.4192C>T, NM_001354382.2:c.4192C>T, NM_001354382.1:c.4192C>T, NM_001130859.3:c.4129C>T, NM_001130859.2:c.4129C>T, NM_001354401.2:c.2200C>T, NM_001354401.1:c.2200C>T, NM_001354402.2:c.2113C>T, NM_001354402.1:c.2113C>T, NM_001354383.2:c.4192C>T, NM_001354383.1:c.4192C>T, NM_001354385.2:c.4192C>T, NM_001354385.1:c.4192C>T, NM_001354392.2:c.4129C>T, NM_001354392.1:c.4129C>T, NM_001354386.2:c.4192C>T, NM_001354386.1:c.4192C>T, NM_001354387.2:c.4168C>T, NM_001354387.1:c.4168C>T, NM_001354388.2:c.4168C>T, NM_001354388.1:c.4168C>T, NM_001354384.2:c.4192C>T, NM_001354384.1:c.4192C>T, NM_001354389.2:c.4168C>T, NM_001354389.1:c.4168C>T, NM_001354400.2:c.3364C>T, NM_001354400.1:c.3364C>T, NM_001354399.2:c.3364C>T, NM_001354399.1:c.3364C>T, NM_001190214.2:c.4123C>T, NM_001190214.1:c.4123C>T, NM_001354393.2:c.4105C>T, NM_001354393.1:c.4105C>T, NM_001354390.2:c.4129C>T, NM_001354390.1:c.4129C>T, NM_001354398.2:c.3364C>T, NM_001354398.1:c.3364C>T, NM_001354394.2:c.4045C>T, NM_001354394.1:c.4045C>T, NM_001354391.2:c.4129C>T, NM_001354391.1:c.4129C>T, NM_001354397.2:c.4003C>T, NM_001354397.1:c.4003C>T, NM_001354395.2:c.4003C>T, NM_001354395.1:c.4003C>T, NM_001354396.2:c.4003C>T, NM_001354396.1:c.4003C>T, NM_001394395.1:c.4375C>T, NM_001393970.1:c.4279C>T, NM_001393969.1:c.4279C>T, NM_001393971.1:c.4255C>T, XM_006720786.3:c.4003C>T, XM_006720786.2:c.4003C>T, XM_006720786.1:c.4003C>T, NM_001024463.3:c.3487C>T, XM_017022736.2:c.4342C>T, XM_017022736.1:c.4342C>T, XM_011522252.2:c.4342C>T, XM_011522252.1:c.4342C>T, XM_011522250.2:c.4342C>T, XM_011522250.1:c.4342C>T, XM_017022737.2:c.4342C>T, XM_017022737.1:c.4342C>T, XM_011522254.2:c.4342C>T, XM_011522254.1:c.4342C>T, XM_017022753.2:c.4105C>T, XM_017022753.1:c.4105C>T, XM_017022754.2:c.4003C>T, XM_017022754.1:c.4003C>T, XM_017022747.2:c.4153C>T, XM_017022747.1:c.4153C>T, XM_011522258.2:c.3577C>T, XM_011522258.1:c.3577C>T, NM_001024463.2:c.3487C>T, XM_047433378.1:c.4342C>T, XM_047433376.1:c.4342C>T, XM_011522249.1:c.4342C>T, XM_047433379.1:c.4318C>T, XM_047433377.1:c.4342C>T, XM_047433383.1:c.4168C>T, XM_047433382.1:c.4192C>T, XM_047433385.1:c.4129C>T, XM_047433386.1:c.4105C>T, XM_047433380.1:c.4279C>T, XM_005254804.1:c.4129C>T, XM_047433381.1:c.4192C>T, XM_047433384.1:c.4168C>T, XM_047433389.1:c.4003C>T, XM_047433387.1:c.4105C>T, XM_047433388.1:c.4003C>T, XM_047433390.1:c.3979C>T, NM_001024463.1:c.3487C>T

        4.

        rs1483387630 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          15:43579064 (GRCh38)
          15:43871262 (GRCh37)
          Canonical SPDI:
          NC_000015.10:43579063:G:A,NC_000015.10:43579063:G:C
          Gene:
          PPIP5K1 (Varview)
          Functional Consequence:
          missense_variant,5_prime_UTR_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          A=0.00017/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.43579064G>A, NC_000015.10:g.43579064G>C, NC_000015.9:g.43871262G>A, NC_000015.9:g.43871262G>C, NG_022929.1:g.16190C>T, NG_022929.1:g.16190C>G, NM_014659.6:c.1118C>T, NM_014659.6:c.1118C>G, NM_014659.5:c.1118C>T, NM_014659.5:c.1118C>G, NM_001130858.4:c.1118C>T, NM_001130858.4:c.1118C>G, NM_001130858.3:c.1118C>T, NM_001130858.3:c.1118C>G, NM_001130858.2:c.1118C>T, NM_001130858.2:c.1118C>G, NM_001354382.3:c.1118C>T, NM_001354382.3:c.1118C>G, NM_001354382.2:c.1118C>T, NM_001354382.2:c.1118C>G, NM_001354382.1:c.1118C>T, NM_001354382.1:c.1118C>G, NM_001130859.3:c.1118C>T, NM_001130859.3:c.1118C>G, NM_001130859.2:c.1118C>T, NM_001130859.2:c.1118C>G, NM_001354401.2:c.-2349C>T, NM_001354401.2:c.-2349C>G, NM_001354401.1:c.-2349C>T, NM_001354401.1:c.-2349C>G, NM_001354402.2:c.-2349C>T, NM_001354402.2:c.-2349C>G, NM_001354402.1:c.-2349C>T, NM_001354402.1:c.-2349C>G, NM_001354383.2:c.1118C>T, NM_001354383.2:c.1118C>G, NM_001354383.1:c.1118C>T, NM_001354383.1:c.1118C>G, NM_001354385.2:c.1118C>T, NM_001354385.2:c.1118C>G, NM_001354385.1:c.1118C>T, NM_001354385.1:c.1118C>G, NM_001354392.2:c.1118C>T, NM_001354392.2:c.1118C>G, NM_001354392.1:c.1118C>T, NM_001354392.1:c.1118C>G, NM_001354386.2:c.1118C>T, NM_001354386.2:c.1118C>G, NM_001354386.1:c.1118C>T, NM_001354386.1:c.1118C>G, NM_001354387.2:c.1118C>T, NM_001354387.2:c.1118C>G, NM_001354387.1:c.1118C>T, NM_001354387.1:c.1118C>G, NM_001354388.2:c.1118C>T, NM_001354388.2:c.1118C>G, NM_001354388.1:c.1118C>T, NM_001354388.1:c.1118C>G, NM_001354384.2:c.1118C>T, NM_001354384.2:c.1118C>G, NM_001354384.1:c.1118C>T, NM_001354384.1:c.1118C>G, NM_001354389.2:c.1118C>T, NM_001354389.2:c.1118C>G, NM_001354389.1:c.1118C>T, NM_001354389.1:c.1118C>G, NM_001354400.2:c.353C>T, NM_001354400.2:c.353C>G, NM_001354400.1:c.353C>T, NM_001354400.1:c.353C>G, NM_001354399.2:c.353C>T, NM_001354399.2:c.353C>G, NM_001354399.1:c.353C>T, NM_001354399.1:c.353C>G, NM_001190214.2:c.1118C>T, NM_001190214.2:c.1118C>G, NM_001190214.1:c.1118C>T, NM_001190214.1:c.1118C>G, NM_001354393.2:c.1118C>T, NM_001354393.2:c.1118C>G, NM_001354393.1:c.1118C>T, NM_001354393.1:c.1118C>G, NM_001354390.2:c.1118C>T, NM_001354390.2:c.1118C>G, NM_001354390.1:c.1118C>T, NM_001354390.1:c.1118C>G, NM_001354398.2:c.353C>T, NM_001354398.2:c.353C>G, NM_001354398.1:c.353C>T, NM_001354398.1:c.353C>G, NM_001354394.2:c.1118C>T, NM_001354394.2:c.1118C>G, NM_001354394.1:c.1118C>T, NM_001354394.1:c.1118C>G, NM_001354391.2:c.1118C>T, NM_001354391.2:c.1118C>G, NM_001354391.1:c.1118C>T, NM_001354391.1:c.1118C>G, NM_001354397.2:c.1118C>T, NM_001354397.2:c.1118C>G, NM_001354397.1:c.1118C>T, NM_001354397.1:c.1118C>G, NM_001354395.2:c.1118C>T, NM_001354395.2:c.1118C>G, NM_001354395.1:c.1118C>T, NM_001354395.1:c.1118C>G, NM_001354396.2:c.1118C>T, NM_001354396.2:c.1118C>G, NM_001354396.1:c.1118C>T, NM_001354396.1:c.1118C>G, NM_001394395.1:c.1118C>T, NM_001394395.1:c.1118C>G, NM_001393970.1:c.1118C>T, NM_001393970.1:c.1118C>G, NM_001393969.1:c.1118C>T, NM_001393969.1:c.1118C>G, NM_001393971.1:c.1118C>T, NM_001393971.1:c.1118C>G, XM_006720786.3:c.1118C>T, XM_006720786.3:c.1118C>G, XM_006720786.2:c.1118C>T, XM_006720786.2:c.1118C>G, XM_006720786.1:c.1118C>T, XM_006720786.1:c.1118C>G, NM_001024463.3:c.1118C>T, NM_001024463.3:c.1118C>G, XM_017022736.2:c.1118C>T, XM_017022736.2:c.1118C>G, XM_017022736.1:c.1118C>T, XM_017022736.1:c.1118C>G, XM_011522252.2:c.1118C>T, XM_011522252.2:c.1118C>G, XM_011522252.1:c.1118C>T, XM_011522252.1:c.1118C>G, XM_011522250.2:c.1118C>T, XM_011522250.2:c.1118C>G, XM_011522250.1:c.1118C>T, XM_011522250.1:c.1118C>G, XM_017022737.2:c.1118C>T, XM_017022737.2:c.1118C>G, XM_017022737.1:c.1118C>T, XM_017022737.1:c.1118C>G, XM_011522254.2:c.1118C>T, XM_011522254.2:c.1118C>G, XM_011522254.1:c.1118C>T, XM_011522254.1:c.1118C>G, XM_017022753.2:c.1118C>T, XM_017022753.2:c.1118C>G, XM_017022753.1:c.1118C>T, XM_017022753.1:c.1118C>G, XM_017022754.2:c.1118C>T, XM_017022754.2:c.1118C>G, XM_017022754.1:c.1118C>T, XM_017022754.1:c.1118C>G, XM_017022747.2:c.1118C>T, XM_017022747.2:c.1118C>G, XM_017022747.1:c.1118C>T, XM_017022747.1:c.1118C>G, XM_011522258.2:c.353C>T, XM_011522258.2:c.353C>G, XM_011522258.1:c.353C>T, XM_011522258.1:c.353C>G, NM_001024463.2:c.1118C>T, NM_001024463.2:c.1118C>G, XM_047433378.1:c.1118C>T, XM_047433378.1:c.1118C>G, XM_047433376.1:c.1118C>T, XM_047433376.1:c.1118C>G, XM_011522249.1:c.1118C>T, XM_011522249.1:c.1118C>G, XM_047433379.1:c.1118C>T, XM_047433379.1:c.1118C>G, XM_047433377.1:c.1118C>T, XM_047433377.1:c.1118C>G, XM_047433383.1:c.1118C>T, XM_047433383.1:c.1118C>G, XM_047433382.1:c.1118C>T, XM_047433382.1:c.1118C>G, XM_047433385.1:c.1118C>T, XM_047433385.1:c.1118C>G, XM_047433386.1:c.1118C>T, XM_047433386.1:c.1118C>G, XM_047433380.1:c.1118C>T, XM_047433380.1:c.1118C>G, XM_005254804.1:c.1118C>T, XM_005254804.1:c.1118C>G, XM_047433381.1:c.1118C>T, XM_047433381.1:c.1118C>G, XM_047433384.1:c.1118C>T, XM_047433384.1:c.1118C>G, XM_047433389.1:c.1118C>T, XM_047433389.1:c.1118C>G, XM_047433387.1:c.1118C>T, XM_047433387.1:c.1118C>G, XM_047433388.1:c.1118C>T, XM_047433388.1:c.1118C>G, XM_047433390.1:c.1118C>T, XM_047433390.1:c.1118C>G, NM_001024463.1:c.1118C>T, NM_001024463.1:c.1118C>G, NP_055474.3:p.Thr373Met, NP_055474.3:p.Thr373Arg, NP_001124330.1:p.Thr373Met, NP_001124330.1:p.Thr373Arg, NP_001341311.1:p.Thr373Met, NP_001341311.1:p.Thr373Arg, NP_001124331.1:p.Thr373Met, NP_001124331.1:p.Thr373Arg, NP_001341312.1:p.Thr373Met, NP_001341312.1:p.Thr373Arg, NP_001341314.1:p.Thr373Met, NP_001341314.1:p.Thr373Arg, NP_001341321.1:p.Thr373Met, NP_001341321.1:p.Thr373Arg, NP_001341315.1:p.Thr373Met, NP_001341315.1:p.Thr373Arg, NP_001341316.1:p.Thr373Met, NP_001341316.1:p.Thr373Arg, NP_001341317.1:p.Thr373Met, NP_001341317.1:p.Thr373Arg, NP_001341313.1:p.Thr373Met, NP_001341313.1:p.Thr373Arg, NP_001341318.1:p.Thr373Met, NP_001341318.1:p.Thr373Arg, NP_001341329.1:p.Thr118Met, NP_001341329.1:p.Thr118Arg, NP_001341328.1:p.Thr118Met, NP_001341328.1:p.Thr118Arg, NP_001177143.1:p.Thr373Met, NP_001177143.1:p.Thr373Arg, NP_001341322.1:p.Thr373Met, NP_001341322.1:p.Thr373Arg, NP_001341319.1:p.Thr373Met, NP_001341319.1:p.Thr373Arg, NP_001341327.1:p.Thr118Met, NP_001341327.1:p.Thr118Arg, NP_001341323.1:p.Thr373Met, NP_001341323.1:p.Thr373Arg, NP_001341320.1:p.Thr373Met, NP_001341320.1:p.Thr373Arg, NP_001341326.1:p.Thr373Met, NP_001341326.1:p.Thr373Arg, NP_001341324.1:p.Thr373Met, NP_001341324.1:p.Thr373Arg, NP_001341325.1:p.Thr373Met, NP_001341325.1:p.Thr373Arg, NP_001381324.1:p.Thr373Met, NP_001381324.1:p.Thr373Arg, NP_001380899.1:p.Thr373Met, NP_001380899.1:p.Thr373Arg, NP_001380898.1:p.Thr373Met, NP_001380898.1:p.Thr373Arg, NP_001380900.1:p.Thr373Met, NP_001380900.1:p.Thr373Arg, XP_006720849.1:p.Thr373Met, XP_006720849.1:p.Thr373Arg, XP_016878225.1:p.Thr373Met, XP_016878225.1:p.Thr373Arg, XP_011520554.1:p.Thr373Met, XP_011520554.1:p.Thr373Arg, XP_011520552.1:p.Thr373Met, XP_011520552.1:p.Thr373Arg, XP_016878226.1:p.Thr373Met, XP_016878226.1:p.Thr373Arg, XP_011520556.1:p.Thr373Met, XP_011520556.1:p.Thr373Arg, XP_016878242.1:p.Thr373Met, XP_016878242.1:p.Thr373Arg, XP_016878243.1:p.Thr373Met, XP_016878243.1:p.Thr373Arg, XP_016878236.1:p.Thr373Met, XP_016878236.1:p.Thr373Arg, XP_011520560.1:p.Thr118Met, XP_011520560.1:p.Thr118Arg, XP_047289334.1:p.Thr373Met, XP_047289334.1:p.Thr373Arg, XP_047289332.1:p.Thr373Met, XP_047289332.1:p.Thr373Arg, XP_011520551.1:p.Thr373Met, XP_011520551.1:p.Thr373Arg, XP_047289335.1:p.Thr373Met, XP_047289335.1:p.Thr373Arg, XP_047289333.1:p.Thr373Met, XP_047289333.1:p.Thr373Arg, XP_047289339.1:p.Thr373Met, XP_047289339.1:p.Thr373Arg, XP_047289338.1:p.Thr373Met, XP_047289338.1:p.Thr373Arg, XP_047289341.1:p.Thr373Met, XP_047289341.1:p.Thr373Arg, XP_047289342.1:p.Thr373Met, XP_047289342.1:p.Thr373Arg, XP_047289336.1:p.Thr373Met, XP_047289336.1:p.Thr373Arg, XP_005254861.1:p.Thr373Met, XP_005254861.1:p.Thr373Arg, XP_047289337.1:p.Thr373Met, XP_047289337.1:p.Thr373Arg, XP_047289340.1:p.Thr373Met, XP_047289340.1:p.Thr373Arg, XP_047289345.1:p.Thr373Met, XP_047289345.1:p.Thr373Arg, XP_047289343.1:p.Thr373Met, XP_047289343.1:p.Thr373Arg, XP_047289344.1:p.Thr373Met, XP_047289344.1:p.Thr373Arg, XP_047289346.1:p.Thr373Met, XP_047289346.1:p.Thr373Arg

          5.

          rs1482511762 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            15:43573135 (GRCh38)
            15:43865333 (GRCh37)
            Canonical SPDI:
            NC_000015.10:43573134:C:T
            Gene:
            PPIP5K1 (Varview)
            Functional Consequence:
            missense_variant,intron_variant,coding_sequence_variant
            HGVS:
            NC_000015.10:g.43573135C>T, NC_000015.9:g.43865333C>T, NG_022929.1:g.22119G>A, NM_014659.6:c.2464G>A, NM_014659.5:c.2464G>A, NM_001130858.4:c.2476G>A, NM_001130858.3:c.2476G>A, NM_001130858.2:c.2476G>A, NM_001354382.3:c.2464G>A, NM_001354382.2:c.2464G>A, NM_001354382.1:c.2464G>A, NM_001130859.3:c.2464G>A, NM_001130859.2:c.2464G>A, NM_001354401.2:c.472G>A, NM_001354401.1:c.472G>A, NM_001354402.2:c.448G>A, NM_001354402.1:c.448G>A, NM_001354383.2:c.2464G>A, NM_001354383.1:c.2464G>A, NM_001354385.2:c.2464G>A, NM_001354385.1:c.2464G>A, NM_001354392.2:c.2464G>A, NM_001354392.1:c.2464G>A, NM_001354386.2:c.2464G>A, NM_001354386.1:c.2464G>A, NM_001354387.2:c.2440G>A, NM_001354387.1:c.2440G>A, NM_001354388.2:c.2440G>A, NM_001354388.1:c.2440G>A, NM_001354384.2:c.2464G>A, NM_001354384.1:c.2464G>A, NM_001354389.2:c.2440G>A, NM_001354389.1:c.2440G>A, NM_001354400.2:c.1699G>A, NM_001354400.1:c.1699G>A, NM_001354399.2:c.1699G>A, NM_001354399.1:c.1699G>A, NM_001190214.2:c.2464G>A, NM_001190214.1:c.2464G>A, NM_001354393.2:c.2440G>A, NM_001354393.1:c.2440G>A, NM_001354390.2:c.2464G>A, NM_001354390.1:c.2464G>A, NM_001354398.2:c.1699G>A, NM_001354398.1:c.1699G>A, NM_001354391.2:c.2464G>A, NM_001354391.1:c.2464G>A, NM_001354397.2:c.2464G>A, NM_001354397.1:c.2464G>A, NM_001354395.2:c.2464G>A, NM_001354395.1:c.2464G>A, NM_001354396.2:c.2464G>A, NM_001354396.1:c.2464G>A, NM_001394395.1:c.2464G>A, NM_001393970.1:c.2464G>A, NM_001393969.1:c.2464G>A, NM_001393971.1:c.2440G>A, XM_006720786.3:c.2464G>A, XM_006720786.2:c.2464G>A, XM_006720786.1:c.2464G>A, NM_001024463.3:c.2440G>A, XM_017022736.2:c.2464G>A, XM_017022736.1:c.2464G>A, XM_011522252.2:c.2464G>A, XM_011522252.1:c.2464G>A, XM_011522250.2:c.2464G>A, XM_011522250.1:c.2464G>A, XM_017022737.2:c.2464G>A, XM_017022737.1:c.2464G>A, XM_011522254.2:c.2464G>A, XM_011522254.1:c.2464G>A, XM_017022753.2:c.2440G>A, XM_017022753.1:c.2440G>A, XM_017022754.2:c.2464G>A, XM_017022754.1:c.2464G>A, XM_017022747.2:c.2464G>A, XM_017022747.1:c.2464G>A, XM_011522258.2:c.1699G>A, XM_011522258.1:c.1699G>A, NM_001024463.2:c.2440G>A, XM_047433378.1:c.2464G>A, XM_047433376.1:c.2464G>A, XM_011522249.1:c.2464G>A, XM_047433379.1:c.2440G>A, XM_047433377.1:c.2464G>A, XM_047433383.1:c.2440G>A, XM_047433382.1:c.2464G>A, XM_047433385.1:c.2464G>A, XM_047433386.1:c.2440G>A, XM_047433380.1:c.2464G>A, XM_005254804.1:c.2464G>A, XM_047433381.1:c.2464G>A, XM_047433384.1:c.2440G>A, XM_047433389.1:c.2464G>A, XM_047433387.1:c.2440G>A, XM_047433388.1:c.2464G>A, XM_047433390.1:c.2440G>A, NM_001024463.1:c.2440G>A, NP_055474.3:p.Val822Met, NP_001124330.1:p.Val826Met, NP_001341311.1:p.Val822Met, NP_001124331.1:p.Val822Met, NP_001341330.1:p.Val158Met, NP_001341331.1:p.Val150Met, NP_001341312.1:p.Val822Met, NP_001341314.1:p.Val822Met, NP_001341321.1:p.Val822Met, NP_001341315.1:p.Val822Met, NP_001341316.1:p.Val814Met, NP_001341317.1:p.Val814Met, NP_001341313.1:p.Val822Met, NP_001341318.1:p.Val814Met, NP_001341329.1:p.Val567Met, NP_001341328.1:p.Val567Met, NP_001177143.1:p.Val822Met, NP_001341322.1:p.Val814Met, NP_001341319.1:p.Val822Met, NP_001341327.1:p.Val567Met, NP_001341320.1:p.Val822Met, NP_001341326.1:p.Val822Met, NP_001341324.1:p.Val822Met, NP_001341325.1:p.Val822Met, NP_001381324.1:p.Val822Met, NP_001380899.1:p.Val822Met, NP_001380898.1:p.Val822Met, NP_001380900.1:p.Val814Met, XP_006720849.1:p.Val822Met, XP_016878225.1:p.Val822Met, XP_011520554.1:p.Val822Met, XP_011520552.1:p.Val822Met, XP_016878226.1:p.Val822Met, XP_011520556.1:p.Val822Met, XP_016878242.1:p.Val814Met, XP_016878243.1:p.Val822Met, XP_016878236.1:p.Val822Met, XP_011520560.1:p.Val567Met, XP_047289334.1:p.Val822Met, XP_047289332.1:p.Val822Met, XP_011520551.1:p.Val822Met, XP_047289335.1:p.Val814Met, XP_047289333.1:p.Val822Met, XP_047289339.1:p.Val814Met, XP_047289338.1:p.Val822Met, XP_047289341.1:p.Val822Met, XP_047289342.1:p.Val814Met, XP_047289336.1:p.Val822Met, XP_005254861.1:p.Val822Met, XP_047289337.1:p.Val822Met, XP_047289340.1:p.Val814Met, XP_047289345.1:p.Val822Met, XP_047289343.1:p.Val814Met, XP_047289344.1:p.Val822Met, XP_047289346.1:p.Val814Met

            6.

            rs1480924887 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              15:43535335 (GRCh38)
              15:43827533 (GRCh37)
              Canonical SPDI:
              NC_000015.10:43535334:A:C
              Gene:
              PPIP5K1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_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_000015.10:g.43535335A>C, NC_000015.9:g.43827533A>C, NG_022929.1:g.59919T>G, NM_014659.6:c.3566T>G, NM_014659.5:c.3566T>G, NM_001130858.4:c.3641T>G, NM_001130858.3:c.3641T>G, NM_001130858.2:c.3641T>G, NM_001354382.3:c.3629T>G, NM_001354382.2:c.3629T>G, NM_001354382.1:c.3629T>G, NM_001130859.3:c.3566T>G, NM_001130859.2:c.3566T>G, NM_001354401.2:c.1637T>G, NM_001354401.1:c.1637T>G, NM_001354402.2:c.1550T>G, NM_001354402.1:c.1550T>G, NM_001354383.2:c.3629T>G, NM_001354383.1:c.3629T>G, NM_001354385.2:c.3629T>G, NM_001354385.1:c.3629T>G, NM_001354392.2:c.3566T>G, NM_001354392.1:c.3566T>G, NM_001354386.2:c.3629T>G, NM_001354386.1:c.3629T>G, NM_001354387.2:c.3605T>G, NM_001354387.1:c.3605T>G, NM_001354388.2:c.3605T>G, NM_001354388.1:c.3605T>G, NM_001354384.2:c.3629T>G, NM_001354384.1:c.3629T>G, NM_001354389.2:c.3605T>G, NM_001354389.1:c.3605T>G, NM_001354400.2:c.2801T>G, NM_001354400.1:c.2801T>G, NM_001354399.2:c.2801T>G, NM_001354399.1:c.2801T>G, NM_001190214.2:c.3560T>G, NM_001190214.1:c.3560T>G, NM_001354393.2:c.3542T>G, NM_001354393.1:c.3542T>G, NM_001354390.2:c.3566T>G, NM_001354390.1:c.3566T>G, NM_001354398.2:c.2801T>G, NM_001354398.1:c.2801T>G, NM_001354394.2:c.3482T>G, NM_001354394.1:c.3482T>G, NM_001354391.2:c.3566T>G, NM_001354391.1:c.3566T>G, NM_001354397.2:c.3440T>G, NM_001354397.1:c.3440T>G, NM_001354395.2:c.3440T>G, NM_001354395.1:c.3440T>G, NM_001354396.2:c.3440T>G, NM_001354396.1:c.3440T>G, NM_001394395.1:c.3812T>G, NM_001393970.1:c.3716T>G, NM_001393969.1:c.3716T>G, NM_001393971.1:c.3692T>G, XM_006720786.3:c.3440T>G, XM_006720786.2:c.3440T>G, XM_006720786.1:c.3440T>G, XM_017022736.2:c.3779T>G, XM_017022736.1:c.3779T>G, XM_011522252.2:c.3779T>G, XM_011522252.1:c.3779T>G, XM_011522250.2:c.3779T>G, XM_011522250.1:c.3779T>G, XM_017022737.2:c.3779T>G, XM_017022737.1:c.3779T>G, XM_011522254.2:c.3779T>G, XM_011522254.1:c.3779T>G, XM_017022753.2:c.3542T>G, XM_017022753.1:c.3542T>G, XM_017022754.2:c.3440T>G, XM_017022754.1:c.3440T>G, XM_017022747.2:c.3590T>G, XM_017022747.1:c.3590T>G, XM_011522258.2:c.3014T>G, XM_011522258.1:c.3014T>G, XM_047433378.1:c.3779T>G, XM_047433376.1:c.3779T>G, XM_011522249.1:c.3779T>G, XM_047433379.1:c.3755T>G, XM_047433377.1:c.3779T>G, XM_047433383.1:c.3605T>G, XM_047433382.1:c.3629T>G, XM_047433385.1:c.3566T>G, XM_047433386.1:c.3542T>G, XM_047433380.1:c.3716T>G, XM_005254804.1:c.3566T>G, XM_047433381.1:c.3629T>G, XM_047433384.1:c.3605T>G, XM_047433389.1:c.3440T>G, XM_047433387.1:c.3542T>G, XM_047433388.1:c.3440T>G, XM_047433390.1:c.3416T>G, NP_055474.3:p.Leu1189Arg, NP_001124330.1:p.Leu1214Arg, NP_001341311.1:p.Leu1210Arg, NP_001124331.1:p.Leu1189Arg, NP_001341330.1:p.Leu546Arg, NP_001341331.1:p.Leu517Arg, NP_001341312.1:p.Leu1210Arg, NP_001341314.1:p.Leu1210Arg, NP_001341321.1:p.Leu1189Arg, NP_001341315.1:p.Leu1210Arg, NP_001341316.1:p.Leu1202Arg, NP_001341317.1:p.Leu1202Arg, NP_001341313.1:p.Leu1210Arg, NP_001341318.1:p.Leu1202Arg, NP_001341329.1:p.Leu934Arg, NP_001341328.1:p.Leu934Arg, NP_001177143.1:p.Leu1187Arg, NP_001341322.1:p.Leu1181Arg, NP_001341319.1:p.Leu1189Arg, NP_001341327.1:p.Leu934Arg, NP_001341323.1:p.Leu1161Arg, NP_001341320.1:p.Leu1189Arg, NP_001341326.1:p.Leu1147Arg, NP_001341324.1:p.Leu1147Arg, NP_001341325.1:p.Leu1147Arg, NP_001381324.1:p.Leu1271Arg, NP_001380899.1:p.Leu1239Arg, NP_001380898.1:p.Leu1239Arg, NP_001380900.1:p.Leu1231Arg, XP_006720849.1:p.Leu1147Arg, XP_016878225.1:p.Leu1260Arg, XP_011520554.1:p.Leu1260Arg, XP_011520552.1:p.Leu1260Arg, XP_016878226.1:p.Leu1260Arg, XP_011520556.1:p.Leu1260Arg, XP_016878242.1:p.Leu1181Arg, XP_016878243.1:p.Leu1147Arg, XP_016878236.1:p.Leu1197Arg, XP_011520560.1:p.Leu1005Arg, XP_047289334.1:p.Leu1260Arg, XP_047289332.1:p.Leu1260Arg, XP_011520551.1:p.Leu1260Arg, XP_047289335.1:p.Leu1252Arg, XP_047289333.1:p.Leu1260Arg, XP_047289339.1:p.Leu1202Arg, XP_047289338.1:p.Leu1210Arg, XP_047289341.1:p.Leu1189Arg, XP_047289342.1:p.Leu1181Arg, XP_047289336.1:p.Leu1239Arg, XP_005254861.1:p.Leu1189Arg, XP_047289337.1:p.Leu1210Arg, XP_047289340.1:p.Leu1202Arg, XP_047289345.1:p.Leu1147Arg, XP_047289343.1:p.Leu1181Arg, XP_047289344.1:p.Leu1147Arg, XP_047289346.1:p.Leu1139Arg

              7.

              rs1480246464 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                15:43535073 (GRCh38)
                15:43827271 (GRCh37)
                Canonical SPDI:
                NC_000015.10:43535072:C:A,NC_000015.10:43535072:C:T
                Gene:
                PPIP5K1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000056/2 (ALFA)
                T=0.000004/1 (GnomAD_exomes)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000015.10:g.43535073C>A, NC_000015.10:g.43535073C>T, NC_000015.9:g.43827271C>A, NC_000015.9:g.43827271C>T, NG_022929.1:g.60181G>T, NG_022929.1:g.60181G>A, NM_014659.6:c.3828G>T, NM_014659.6:c.3828G>A, NM_014659.5:c.3828G>T, NM_014659.5:c.3828G>A, NM_001130858.4:c.3903G>T, NM_001130858.4:c.3903G>A, NM_001130858.3:c.3903G>T, NM_001130858.3:c.3903G>A, NM_001130858.2:c.3903G>T, NM_001130858.2:c.3903G>A, NM_001354382.3:c.3891G>T, NM_001354382.3:c.3891G>A, NM_001354382.2:c.3891G>T, NM_001354382.2:c.3891G>A, NM_001354382.1:c.3891G>T, NM_001354382.1:c.3891G>A, NM_001130859.3:c.3828G>T, NM_001130859.3:c.3828G>A, NM_001130859.2:c.3828G>T, NM_001130859.2:c.3828G>A, NM_001354401.2:c.1899G>T, NM_001354401.2:c.1899G>A, NM_001354401.1:c.1899G>T, NM_001354401.1:c.1899G>A, NM_001354402.2:c.1812G>T, NM_001354402.2:c.1812G>A, NM_001354402.1:c.1812G>T, NM_001354402.1:c.1812G>A, NM_001354383.2:c.3891G>T, NM_001354383.2:c.3891G>A, NM_001354383.1:c.3891G>T, NM_001354383.1:c.3891G>A, NM_001354385.2:c.3891G>T, NM_001354385.2:c.3891G>A, NM_001354385.1:c.3891G>T, NM_001354385.1:c.3891G>A, NM_001354392.2:c.3828G>T, NM_001354392.2:c.3828G>A, NM_001354392.1:c.3828G>T, NM_001354392.1:c.3828G>A, NM_001354386.2:c.3891G>T, NM_001354386.2:c.3891G>A, NM_001354386.1:c.3891G>T, NM_001354386.1:c.3891G>A, NM_001354387.2:c.3867G>T, NM_001354387.2:c.3867G>A, NM_001354387.1:c.3867G>T, NM_001354387.1:c.3867G>A, NM_001354388.2:c.3867G>T, NM_001354388.2:c.3867G>A, NM_001354388.1:c.3867G>T, NM_001354388.1:c.3867G>A, NM_001354384.2:c.3891G>T, NM_001354384.2:c.3891G>A, NM_001354384.1:c.3891G>T, NM_001354384.1:c.3891G>A, NM_001354389.2:c.3867G>T, NM_001354389.2:c.3867G>A, NM_001354389.1:c.3867G>T, NM_001354389.1:c.3867G>A, NM_001354400.2:c.3063G>T, NM_001354400.2:c.3063G>A, NM_001354400.1:c.3063G>T, NM_001354400.1:c.3063G>A, NM_001354399.2:c.3063G>T, NM_001354399.2:c.3063G>A, NM_001354399.1:c.3063G>T, NM_001354399.1:c.3063G>A, NM_001190214.2:c.3822G>T, NM_001190214.2:c.3822G>A, NM_001190214.1:c.3822G>T, NM_001190214.1:c.3822G>A, NM_001354393.2:c.3804G>T, NM_001354393.2:c.3804G>A, NM_001354393.1:c.3804G>T, NM_001354393.1:c.3804G>A, NM_001354390.2:c.3828G>T, NM_001354390.2:c.3828G>A, NM_001354390.1:c.3828G>T, NM_001354390.1:c.3828G>A, NM_001354398.2:c.3063G>T, NM_001354398.2:c.3063G>A, NM_001354398.1:c.3063G>T, NM_001354398.1:c.3063G>A, NM_001354394.2:c.3744G>T, NM_001354394.2:c.3744G>A, NM_001354394.1:c.3744G>T, NM_001354394.1:c.3744G>A, NM_001354391.2:c.3828G>T, NM_001354391.2:c.3828G>A, NM_001354391.1:c.3828G>T, NM_001354391.1:c.3828G>A, NM_001354397.2:c.3702G>T, NM_001354397.2:c.3702G>A, NM_001354397.1:c.3702G>T, NM_001354397.1:c.3702G>A, NM_001354395.2:c.3702G>T, NM_001354395.2:c.3702G>A, NM_001354395.1:c.3702G>T, NM_001354395.1:c.3702G>A, NM_001354396.2:c.3702G>T, NM_001354396.2:c.3702G>A, NM_001354396.1:c.3702G>T, NM_001354396.1:c.3702G>A, NM_001394395.1:c.4074G>T, NM_001394395.1:c.4074G>A, NM_001393970.1:c.3978G>T, NM_001393970.1:c.3978G>A, NM_001393969.1:c.3978G>T, NM_001393969.1:c.3978G>A, NM_001393971.1:c.3954G>T, NM_001393971.1:c.3954G>A, XM_006720786.3:c.3702G>T, XM_006720786.3:c.3702G>A, XM_006720786.2:c.3702G>T, XM_006720786.2:c.3702G>A, XM_006720786.1:c.3702G>T, XM_006720786.1:c.3702G>A, NM_001024463.3:c.3186G>T, NM_001024463.3:c.3186G>A, XM_017022736.2:c.4041G>T, XM_017022736.2:c.4041G>A, XM_017022736.1:c.4041G>T, XM_017022736.1:c.4041G>A, XM_011522252.2:c.4041G>T, XM_011522252.2:c.4041G>A, XM_011522252.1:c.4041G>T, XM_011522252.1:c.4041G>A, XM_011522250.2:c.4041G>T, XM_011522250.2:c.4041G>A, XM_011522250.1:c.4041G>T, XM_011522250.1:c.4041G>A, XM_017022737.2:c.4041G>T, XM_017022737.2:c.4041G>A, XM_017022737.1:c.4041G>T, XM_017022737.1:c.4041G>A, XM_011522254.2:c.4041G>T, XM_011522254.2:c.4041G>A, XM_011522254.1:c.4041G>T, XM_011522254.1:c.4041G>A, XM_017022753.2:c.3804G>T, XM_017022753.2:c.3804G>A, XM_017022753.1:c.3804G>T, XM_017022753.1:c.3804G>A, XM_017022754.2:c.3702G>T, XM_017022754.2:c.3702G>A, XM_017022754.1:c.3702G>T, XM_017022754.1:c.3702G>A, XM_017022747.2:c.3852G>T, XM_017022747.2:c.3852G>A, XM_017022747.1:c.3852G>T, XM_017022747.1:c.3852G>A, XM_011522258.2:c.3276G>T, XM_011522258.2:c.3276G>A, XM_011522258.1:c.3276G>T, XM_011522258.1:c.3276G>A, NM_001024463.2:c.3186G>T, NM_001024463.2:c.3186G>A, XM_047433378.1:c.4041G>T, XM_047433378.1:c.4041G>A, XM_047433376.1:c.4041G>T, XM_047433376.1:c.4041G>A, XM_011522249.1:c.4041G>T, XM_011522249.1:c.4041G>A, XM_047433379.1:c.4017G>T, XM_047433379.1:c.4017G>A, XM_047433377.1:c.4041G>T, XM_047433377.1:c.4041G>A, XM_047433383.1:c.3867G>T, XM_047433383.1:c.3867G>A, XM_047433382.1:c.3891G>T, XM_047433382.1:c.3891G>A, XM_047433385.1:c.3828G>T, XM_047433385.1:c.3828G>A, XM_047433386.1:c.3804G>T, XM_047433386.1:c.3804G>A, XM_047433380.1:c.3978G>T, XM_047433380.1:c.3978G>A, XM_005254804.1:c.3828G>T, XM_005254804.1:c.3828G>A, XM_047433381.1:c.3891G>T, XM_047433381.1:c.3891G>A, XM_047433384.1:c.3867G>T, XM_047433384.1:c.3867G>A, XM_047433389.1:c.3702G>T, XM_047433389.1:c.3702G>A, XM_047433387.1:c.3804G>T, XM_047433387.1:c.3804G>A, XM_047433388.1:c.3702G>T, XM_047433388.1:c.3702G>A, XM_047433390.1:c.3678G>T, XM_047433390.1:c.3678G>A, NM_001024463.1:c.3186G>T, NM_001024463.1:c.3186G>A, NP_055474.3:p.Gln1276His, NP_001124330.1:p.Gln1301His, NP_001341311.1:p.Gln1297His, NP_001124331.1:p.Gln1276His, NP_001341330.1:p.Gln633His, NP_001341331.1:p.Gln604His, NP_001341312.1:p.Gln1297His, NP_001341314.1:p.Gln1297His, NP_001341321.1:p.Gln1276His, NP_001341315.1:p.Gln1297His, NP_001341316.1:p.Gln1289His, NP_001341317.1:p.Gln1289His, NP_001341313.1:p.Gln1297His, NP_001341318.1:p.Gln1289His, NP_001341329.1:p.Gln1021His, NP_001341328.1:p.Gln1021His, NP_001177143.1:p.Gln1274His, NP_001341322.1:p.Gln1268His, NP_001341319.1:p.Gln1276His, NP_001341327.1:p.Gln1021His, NP_001341323.1:p.Gln1248His, NP_001341320.1:p.Gln1276His, NP_001341326.1:p.Gln1234His, NP_001341324.1:p.Gln1234His, NP_001341325.1:p.Gln1234His, NP_001381324.1:p.Gln1358His, NP_001380899.1:p.Gln1326His, NP_001380898.1:p.Gln1326His, NP_001380900.1:p.Gln1318His, XP_006720849.1:p.Gln1234His, XP_016878225.1:p.Gln1347His, XP_011520554.1:p.Gln1347His, XP_011520552.1:p.Gln1347His, XP_016878226.1:p.Gln1347His, XP_011520556.1:p.Gln1347His, XP_016878242.1:p.Gln1268His, XP_016878243.1:p.Gln1234His, XP_016878236.1:p.Gln1284His, XP_011520560.1:p.Gln1092His, XP_047289334.1:p.Gln1347His, XP_047289332.1:p.Gln1347His, XP_011520551.1:p.Gln1347His, XP_047289335.1:p.Gln1339His, XP_047289333.1:p.Gln1347His, XP_047289339.1:p.Gln1289His, XP_047289338.1:p.Gln1297His, XP_047289341.1:p.Gln1276His, XP_047289342.1:p.Gln1268His, XP_047289336.1:p.Gln1326His, XP_005254861.1:p.Gln1276His, XP_047289337.1:p.Gln1297His, XP_047289340.1:p.Gln1289His, XP_047289345.1:p.Gln1234His, XP_047289343.1:p.Gln1268His, XP_047289344.1:p.Gln1234His, XP_047289346.1:p.Gln1226His

                8.

                rs1479268609 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  15:43581904 (GRCh38)
                  15:43874102 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:43581903:C:T
                  Gene:
                  PPIP5K1 (Varview)
                  Functional Consequence:
                  5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.0007/2 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.43581904C>T, NC_000015.9:g.43874102C>T, NG_022929.1:g.13350G>A, NM_014659.6:c.726G>A, NM_014659.5:c.726G>A, NM_001130858.4:c.726G>A, NM_001130858.3:c.726G>A, NM_001130858.2:c.726G>A, NM_001354382.3:c.726G>A, NM_001354382.2:c.726G>A, NM_001354382.1:c.726G>A, NM_001130859.3:c.726G>A, NM_001130859.2:c.726G>A, NM_001354401.2:c.-2782G>A, NM_001354401.1:c.-2782G>A, NM_001354402.2:c.-2741G>A, NM_001354402.1:c.-2741G>A, NM_001354383.2:c.726G>A, NM_001354383.1:c.726G>A, NM_001354385.2:c.726G>A, NM_001354385.1:c.726G>A, NM_001354392.2:c.726G>A, NM_001354392.1:c.726G>A, NM_001354386.2:c.726G>A, NM_001354386.1:c.726G>A, NM_001354387.2:c.726G>A, NM_001354387.1:c.726G>A, NM_001354388.2:c.726G>A, NM_001354388.1:c.726G>A, NM_001354384.2:c.726G>A, NM_001354384.1:c.726G>A, NM_001354389.2:c.726G>A, NM_001354389.1:c.726G>A, NM_001354400.2:c.-81G>A, NM_001354400.1:c.-81G>A, NM_001354399.2:c.-81G>A, NM_001354399.1:c.-81G>A, NM_001190214.2:c.726G>A, NM_001190214.1:c.726G>A, NM_001354393.2:c.726G>A, NM_001354393.1:c.726G>A, NM_001354390.2:c.726G>A, NM_001354390.1:c.726G>A, NM_001354398.2:c.-81G>A, NM_001354398.1:c.-81G>A, NM_001354394.2:c.726G>A, NM_001354394.1:c.726G>A, NM_001354391.2:c.726G>A, NM_001354391.1:c.726G>A, NM_001354397.2:c.726G>A, NM_001354397.1:c.726G>A, NM_001354395.2:c.726G>A, NM_001354395.1:c.726G>A, NM_001354396.2:c.726G>A, NM_001354396.1:c.726G>A, NM_001394395.1:c.726G>A, NM_001393970.1:c.726G>A, NM_001393969.1:c.726G>A, NM_001393971.1:c.726G>A, XM_006720786.3:c.726G>A, XM_006720786.2:c.726G>A, XM_006720786.1:c.726G>A, NM_001024463.3:c.726G>A, XM_017022736.2:c.726G>A, XM_017022736.1:c.726G>A, XM_011522252.2:c.726G>A, XM_011522252.1:c.726G>A, XM_011522250.2:c.726G>A, XM_011522250.1:c.726G>A, XM_017022737.2:c.726G>A, XM_017022737.1:c.726G>A, XM_011522254.2:c.726G>A, XM_011522254.1:c.726G>A, XM_017022753.2:c.726G>A, XM_017022753.1:c.726G>A, XM_017022754.2:c.726G>A, XM_017022754.1:c.726G>A, XM_017022747.2:c.726G>A, XM_017022747.1:c.726G>A, XM_011522258.2:c.-81G>A, XM_011522258.1:c.-81G>A, NM_001024463.2:c.726G>A, XM_047433378.1:c.726G>A, XM_047433376.1:c.726G>A, XM_011522249.1:c.726G>A, XM_047433379.1:c.726G>A, XM_047433377.1:c.726G>A, XM_047433383.1:c.726G>A, XM_047433382.1:c.726G>A, XM_047433385.1:c.726G>A, XM_047433386.1:c.726G>A, XM_047433380.1:c.726G>A, XM_005254804.1:c.726G>A, XM_047433381.1:c.726G>A, XM_047433384.1:c.726G>A, XM_047433389.1:c.726G>A, XM_047433387.1:c.726G>A, XM_047433388.1:c.726G>A, XM_047433390.1:c.726G>A, NM_001024463.1:c.726G>A

                  9.

                  rs1478605112 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    15:43535117 (GRCh38)
                    15:43827315 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:43535116:G:T
                    Gene:
                    PPIP5K1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.43535117G>T, NC_000015.9:g.43827315G>T, NG_022929.1:g.60137C>A, NM_014659.6:c.3784C>A, NM_014659.5:c.3784C>A, NM_001130858.4:c.3859C>A, NM_001130858.3:c.3859C>A, NM_001130858.2:c.3859C>A, NM_001354382.3:c.3847C>A, NM_001354382.2:c.3847C>A, NM_001354382.1:c.3847C>A, NM_001130859.3:c.3784C>A, NM_001130859.2:c.3784C>A, NM_001354401.2:c.1855C>A, NM_001354401.1:c.1855C>A, NM_001354402.2:c.1768C>A, NM_001354402.1:c.1768C>A, NM_001354383.2:c.3847C>A, NM_001354383.1:c.3847C>A, NM_001354385.2:c.3847C>A, NM_001354385.1:c.3847C>A, NM_001354392.2:c.3784C>A, NM_001354392.1:c.3784C>A, NM_001354386.2:c.3847C>A, NM_001354386.1:c.3847C>A, NM_001354387.2:c.3823C>A, NM_001354387.1:c.3823C>A, NM_001354388.2:c.3823C>A, NM_001354388.1:c.3823C>A, NM_001354384.2:c.3847C>A, NM_001354384.1:c.3847C>A, NM_001354389.2:c.3823C>A, NM_001354389.1:c.3823C>A, NM_001354400.2:c.3019C>A, NM_001354400.1:c.3019C>A, NM_001354399.2:c.3019C>A, NM_001354399.1:c.3019C>A, NM_001190214.2:c.3778C>A, NM_001190214.1:c.3778C>A, NM_001354393.2:c.3760C>A, NM_001354393.1:c.3760C>A, NM_001354390.2:c.3784C>A, NM_001354390.1:c.3784C>A, NM_001354398.2:c.3019C>A, NM_001354398.1:c.3019C>A, NM_001354394.2:c.3700C>A, NM_001354394.1:c.3700C>A, NM_001354391.2:c.3784C>A, NM_001354391.1:c.3784C>A, NM_001354397.2:c.3658C>A, NM_001354397.1:c.3658C>A, NM_001354395.2:c.3658C>A, NM_001354395.1:c.3658C>A, NM_001354396.2:c.3658C>A, NM_001354396.1:c.3658C>A, NM_001394395.1:c.4030C>A, NM_001393970.1:c.3934C>A, NM_001393969.1:c.3934C>A, NM_001393971.1:c.3910C>A, XM_006720786.3:c.3658C>A, XM_006720786.2:c.3658C>A, XM_006720786.1:c.3658C>A, NM_001024463.3:c.3142C>A, XM_017022736.2:c.3997C>A, XM_017022736.1:c.3997C>A, XM_011522252.2:c.3997C>A, XM_011522252.1:c.3997C>A, XM_011522250.2:c.3997C>A, XM_011522250.1:c.3997C>A, XM_017022737.2:c.3997C>A, XM_017022737.1:c.3997C>A, XM_011522254.2:c.3997C>A, XM_011522254.1:c.3997C>A, XM_017022753.2:c.3760C>A, XM_017022753.1:c.3760C>A, XM_017022754.2:c.3658C>A, XM_017022754.1:c.3658C>A, XM_017022747.2:c.3808C>A, XM_017022747.1:c.3808C>A, XM_011522258.2:c.3232C>A, XM_011522258.1:c.3232C>A, NM_001024463.2:c.3142C>A, XM_047433378.1:c.3997C>A, XM_047433376.1:c.3997C>A, XM_011522249.1:c.3997C>A, XM_047433379.1:c.3973C>A, XM_047433377.1:c.3997C>A, XM_047433383.1:c.3823C>A, XM_047433382.1:c.3847C>A, XM_047433385.1:c.3784C>A, XM_047433386.1:c.3760C>A, XM_047433380.1:c.3934C>A, XM_005254804.1:c.3784C>A, XM_047433381.1:c.3847C>A, XM_047433384.1:c.3823C>A, XM_047433389.1:c.3658C>A, XM_047433387.1:c.3760C>A, XM_047433388.1:c.3658C>A, XM_047433390.1:c.3634C>A, NM_001024463.1:c.3142C>A, NP_055474.3:p.Gln1262Lys, NP_001124330.1:p.Gln1287Lys, NP_001341311.1:p.Gln1283Lys, NP_001124331.1:p.Gln1262Lys, NP_001341330.1:p.Gln619Lys, NP_001341331.1:p.Gln590Lys, NP_001341312.1:p.Gln1283Lys, NP_001341314.1:p.Gln1283Lys, NP_001341321.1:p.Gln1262Lys, NP_001341315.1:p.Gln1283Lys, NP_001341316.1:p.Gln1275Lys, NP_001341317.1:p.Gln1275Lys, NP_001341313.1:p.Gln1283Lys, NP_001341318.1:p.Gln1275Lys, NP_001341329.1:p.Gln1007Lys, NP_001341328.1:p.Gln1007Lys, NP_001177143.1:p.Gln1260Lys, NP_001341322.1:p.Gln1254Lys, NP_001341319.1:p.Gln1262Lys, NP_001341327.1:p.Gln1007Lys, NP_001341323.1:p.Gln1234Lys, NP_001341320.1:p.Gln1262Lys, NP_001341326.1:p.Gln1220Lys, NP_001341324.1:p.Gln1220Lys, NP_001341325.1:p.Gln1220Lys, NP_001381324.1:p.Gln1344Lys, NP_001380899.1:p.Gln1312Lys, NP_001380898.1:p.Gln1312Lys, NP_001380900.1:p.Gln1304Lys, XP_006720849.1:p.Gln1220Lys, XP_016878225.1:p.Gln1333Lys, XP_011520554.1:p.Gln1333Lys, XP_011520552.1:p.Gln1333Lys, XP_016878226.1:p.Gln1333Lys, XP_011520556.1:p.Gln1333Lys, XP_016878242.1:p.Gln1254Lys, XP_016878243.1:p.Gln1220Lys, XP_016878236.1:p.Gln1270Lys, XP_011520560.1:p.Gln1078Lys, XP_047289334.1:p.Gln1333Lys, XP_047289332.1:p.Gln1333Lys, XP_011520551.1:p.Gln1333Lys, XP_047289335.1:p.Gln1325Lys, XP_047289333.1:p.Gln1333Lys, XP_047289339.1:p.Gln1275Lys, XP_047289338.1:p.Gln1283Lys, XP_047289341.1:p.Gln1262Lys, XP_047289342.1:p.Gln1254Lys, XP_047289336.1:p.Gln1312Lys, XP_005254861.1:p.Gln1262Lys, XP_047289337.1:p.Gln1283Lys, XP_047289340.1:p.Gln1275Lys, XP_047289345.1:p.Gln1220Lys, XP_047289343.1:p.Gln1254Lys, XP_047289344.1:p.Gln1220Lys, XP_047289346.1:p.Gln1212Lys

                    10.

                    rs1476234399 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      15:43535072 (GRCh38)
                      15:43827270 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:43535071:C:T
                      Gene:
                      PPIP5K1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000015.10:g.43535072C>T, NC_000015.9:g.43827270C>T, NG_022929.1:g.60182G>A, NM_014659.6:c.3829G>A, NM_014659.5:c.3829G>A, NM_001130858.4:c.3904G>A, NM_001130858.3:c.3904G>A, NM_001130858.2:c.3904G>A, NM_001354382.3:c.3892G>A, NM_001354382.2:c.3892G>A, NM_001354382.1:c.3892G>A, NM_001130859.3:c.3829G>A, NM_001130859.2:c.3829G>A, NM_001354401.2:c.1900G>A, NM_001354401.1:c.1900G>A, NM_001354402.2:c.1813G>A, NM_001354402.1:c.1813G>A, NM_001354383.2:c.3892G>A, NM_001354383.1:c.3892G>A, NM_001354385.2:c.3892G>A, NM_001354385.1:c.3892G>A, NM_001354392.2:c.3829G>A, NM_001354392.1:c.3829G>A, NM_001354386.2:c.3892G>A, NM_001354386.1:c.3892G>A, NM_001354387.2:c.3868G>A, NM_001354387.1:c.3868G>A, NM_001354388.2:c.3868G>A, NM_001354388.1:c.3868G>A, NM_001354384.2:c.3892G>A, NM_001354384.1:c.3892G>A, NM_001354389.2:c.3868G>A, NM_001354389.1:c.3868G>A, NM_001354400.2:c.3064G>A, NM_001354400.1:c.3064G>A, NM_001354399.2:c.3064G>A, NM_001354399.1:c.3064G>A, NM_001190214.2:c.3823G>A, NM_001190214.1:c.3823G>A, NM_001354393.2:c.3805G>A, NM_001354393.1:c.3805G>A, NM_001354390.2:c.3829G>A, NM_001354390.1:c.3829G>A, NM_001354398.2:c.3064G>A, NM_001354398.1:c.3064G>A, NM_001354394.2:c.3745G>A, NM_001354394.1:c.3745G>A, NM_001354391.2:c.3829G>A, NM_001354391.1:c.3829G>A, NM_001354397.2:c.3703G>A, NM_001354397.1:c.3703G>A, NM_001354395.2:c.3703G>A, NM_001354395.1:c.3703G>A, NM_001354396.2:c.3703G>A, NM_001354396.1:c.3703G>A, NM_001394395.1:c.4075G>A, NM_001393970.1:c.3979G>A, NM_001393969.1:c.3979G>A, NM_001393971.1:c.3955G>A, XM_006720786.3:c.3703G>A, XM_006720786.2:c.3703G>A, XM_006720786.1:c.3703G>A, NM_001024463.3:c.3187G>A, XM_017022736.2:c.4042G>A, XM_017022736.1:c.4042G>A, XM_011522252.2:c.4042G>A, XM_011522252.1:c.4042G>A, XM_011522250.2:c.4042G>A, XM_011522250.1:c.4042G>A, XM_017022737.2:c.4042G>A, XM_017022737.1:c.4042G>A, XM_011522254.2:c.4042G>A, XM_011522254.1:c.4042G>A, XM_017022753.2:c.3805G>A, XM_017022753.1:c.3805G>A, XM_017022754.2:c.3703G>A, XM_017022754.1:c.3703G>A, XM_017022747.2:c.3853G>A, XM_017022747.1:c.3853G>A, XM_011522258.2:c.3277G>A, XM_011522258.1:c.3277G>A, NM_001024463.2:c.3187G>A, XM_047433378.1:c.4042G>A, XM_047433376.1:c.4042G>A, XM_011522249.1:c.4042G>A, XM_047433379.1:c.4018G>A, XM_047433377.1:c.4042G>A, XM_047433383.1:c.3868G>A, XM_047433382.1:c.3892G>A, XM_047433385.1:c.3829G>A, XM_047433386.1:c.3805G>A, XM_047433380.1:c.3979G>A, XM_005254804.1:c.3829G>A, XM_047433381.1:c.3892G>A, XM_047433384.1:c.3868G>A, XM_047433389.1:c.3703G>A, XM_047433387.1:c.3805G>A, XM_047433388.1:c.3703G>A, XM_047433390.1:c.3679G>A, NM_001024463.1:c.3187G>A, NP_055474.3:p.Glu1277Lys, NP_001124330.1:p.Glu1302Lys, NP_001341311.1:p.Glu1298Lys, NP_001124331.1:p.Glu1277Lys, NP_001341330.1:p.Glu634Lys, NP_001341331.1:p.Glu605Lys, NP_001341312.1:p.Glu1298Lys, NP_001341314.1:p.Glu1298Lys, NP_001341321.1:p.Glu1277Lys, NP_001341315.1:p.Glu1298Lys, NP_001341316.1:p.Glu1290Lys, NP_001341317.1:p.Glu1290Lys, NP_001341313.1:p.Glu1298Lys, NP_001341318.1:p.Glu1290Lys, NP_001341329.1:p.Glu1022Lys, NP_001341328.1:p.Glu1022Lys, NP_001177143.1:p.Glu1275Lys, NP_001341322.1:p.Glu1269Lys, NP_001341319.1:p.Glu1277Lys, NP_001341327.1:p.Glu1022Lys, NP_001341323.1:p.Glu1249Lys, NP_001341320.1:p.Glu1277Lys, NP_001341326.1:p.Glu1235Lys, NP_001341324.1:p.Glu1235Lys, NP_001341325.1:p.Glu1235Lys, NP_001381324.1:p.Glu1359Lys, NP_001380899.1:p.Glu1327Lys, NP_001380898.1:p.Glu1327Lys, NP_001380900.1:p.Glu1319Lys, XP_006720849.1:p.Glu1235Lys, XP_016878225.1:p.Glu1348Lys, XP_011520554.1:p.Glu1348Lys, XP_011520552.1:p.Glu1348Lys, XP_016878226.1:p.Glu1348Lys, XP_011520556.1:p.Glu1348Lys, XP_016878242.1:p.Glu1269Lys, XP_016878243.1:p.Glu1235Lys, XP_016878236.1:p.Glu1285Lys, XP_011520560.1:p.Glu1093Lys, XP_047289334.1:p.Glu1348Lys, XP_047289332.1:p.Glu1348Lys, XP_011520551.1:p.Glu1348Lys, XP_047289335.1:p.Glu1340Lys, XP_047289333.1:p.Glu1348Lys, XP_047289339.1:p.Glu1290Lys, XP_047289338.1:p.Glu1298Lys, XP_047289341.1:p.Glu1277Lys, XP_047289342.1:p.Glu1269Lys, XP_047289336.1:p.Glu1327Lys, XP_005254861.1:p.Glu1277Lys, XP_047289337.1:p.Glu1298Lys, XP_047289340.1:p.Glu1290Lys, XP_047289345.1:p.Glu1235Lys, XP_047289343.1:p.Glu1269Lys, XP_047289344.1:p.Glu1235Lys, XP_047289346.1:p.Glu1227Lys

                      11.

                      rs1475217633 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        15:43534709 (GRCh38)
                        15:43826907 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:43534708:G:T
                        Gene:
                        PPIP5K1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        HGVS:
                        NC_000015.10:g.43534709G>T, NC_000015.9:g.43826907G>T, NG_022929.1:g.60545C>A, NM_014659.6:c.4192C>A, NM_014659.5:c.4192C>A, NM_001130858.4:c.4267C>A, NM_001130858.3:c.4267C>A, NM_001130858.2:c.4267C>A, NM_001354382.3:c.4255C>A, NM_001354382.2:c.4255C>A, NM_001354382.1:c.4255C>A, NM_001130859.3:c.4192C>A, NM_001130859.2:c.4192C>A, NM_001354401.2:c.2263C>A, NM_001354401.1:c.2263C>A, NM_001354402.2:c.2176C>A, NM_001354402.1:c.2176C>A, NM_001354383.2:c.4255C>A, NM_001354383.1:c.4255C>A, NM_001354385.2:c.4255C>A, NM_001354385.1:c.4255C>A, NM_001354392.2:c.4192C>A, NM_001354392.1:c.4192C>A, NM_001354386.2:c.4255C>A, NM_001354386.1:c.4255C>A, NM_001354387.2:c.4231C>A, NM_001354387.1:c.4231C>A, NM_001354388.2:c.4231C>A, NM_001354388.1:c.4231C>A, NM_001354384.2:c.4255C>A, NM_001354384.1:c.4255C>A, NM_001354389.2:c.4231C>A, NM_001354389.1:c.4231C>A, NM_001354400.2:c.3427C>A, NM_001354400.1:c.3427C>A, NM_001354399.2:c.3427C>A, NM_001354399.1:c.3427C>A, NM_001190214.2:c.4186C>A, NM_001190214.1:c.4186C>A, NM_001354393.2:c.4168C>A, NM_001354393.1:c.4168C>A, NM_001354390.2:c.4192C>A, NM_001354390.1:c.4192C>A, NM_001354398.2:c.3427C>A, NM_001354398.1:c.3427C>A, NM_001354394.2:c.4108C>A, NM_001354394.1:c.4108C>A, NM_001354391.2:c.4192C>A, NM_001354391.1:c.4192C>A, NM_001354397.2:c.4066C>A, NM_001354397.1:c.4066C>A, NM_001354395.2:c.4066C>A, NM_001354395.1:c.4066C>A, NM_001354396.2:c.4066C>A, NM_001354396.1:c.4066C>A, NM_001394395.1:c.4438C>A, NM_001393970.1:c.4342C>A, NM_001393969.1:c.4342C>A, NM_001393971.1:c.4318C>A, XM_006720786.3:c.4066C>A, XM_006720786.2:c.4066C>A, XM_006720786.1:c.4066C>A, NM_001024463.3:c.3550C>A, XM_017022736.2:c.4405C>A, XM_017022736.1:c.4405C>A, XM_011522252.2:c.4405C>A, XM_011522252.1:c.4405C>A, XM_011522250.2:c.4405C>A, XM_011522250.1:c.4405C>A, XM_017022737.2:c.4405C>A, XM_017022737.1:c.4405C>A, XM_011522254.2:c.4405C>A, XM_011522254.1:c.4405C>A, XM_017022753.2:c.4168C>A, XM_017022753.1:c.4168C>A, XM_017022754.2:c.4066C>A, XM_017022754.1:c.4066C>A, XM_017022747.2:c.4216C>A, XM_017022747.1:c.4216C>A, XM_011522258.2:c.3640C>A, XM_011522258.1:c.3640C>A, NM_001024463.2:c.3550C>A, XM_047433378.1:c.4405C>A, XM_047433376.1:c.4405C>A, XM_011522249.1:c.4405C>A, XM_047433379.1:c.4381C>A, XM_047433377.1:c.4405C>A, XM_047433383.1:c.4231C>A, XM_047433382.1:c.4255C>A, XM_047433385.1:c.4192C>A, XM_047433386.1:c.4168C>A, XM_047433380.1:c.4342C>A, XM_005254804.1:c.4192C>A, XM_047433381.1:c.4255C>A, XM_047433384.1:c.4231C>A, XM_047433389.1:c.4066C>A, XM_047433387.1:c.4168C>A, XM_047433388.1:c.4066C>A, XM_047433390.1:c.4042C>A, NM_001024463.1:c.3550C>A, NP_055474.3:p.Leu1398Met, NP_001124330.1:p.Leu1423Met, NP_001341311.1:p.Leu1419Met, NP_001124331.1:p.Leu1398Met, NP_001341330.1:p.Leu755Met, NP_001341331.1:p.Leu726Met, NP_001341312.1:p.Leu1419Met, NP_001341314.1:p.Leu1419Met, NP_001341321.1:p.Leu1398Met, NP_001341315.1:p.Leu1419Met, NP_001341316.1:p.Leu1411Met, NP_001341317.1:p.Leu1411Met, NP_001341313.1:p.Leu1419Met, NP_001341318.1:p.Leu1411Met, NP_001341329.1:p.Leu1143Met, NP_001341328.1:p.Leu1143Met, NP_001177143.1:p.Leu1396Met, NP_001341322.1:p.Leu1390Met, NP_001341319.1:p.Leu1398Met, NP_001341327.1:p.Leu1143Met, NP_001341323.1:p.Leu1370Met, NP_001341320.1:p.Leu1398Met, NP_001341326.1:p.Leu1356Met, NP_001341324.1:p.Leu1356Met, NP_001341325.1:p.Leu1356Met, NP_001381324.1:p.Leu1480Met, NP_001380899.1:p.Leu1448Met, NP_001380898.1:p.Leu1448Met, NP_001380900.1:p.Leu1440Met, XP_006720849.1:p.Leu1356Met, XP_016878225.1:p.Leu1469Met, XP_011520554.1:p.Leu1469Met, XP_011520552.1:p.Leu1469Met, XP_016878226.1:p.Leu1469Met, XP_011520556.1:p.Leu1469Met, XP_016878242.1:p.Leu1390Met, XP_016878243.1:p.Leu1356Met, XP_016878236.1:p.Leu1406Met, XP_011520560.1:p.Leu1214Met, XP_047289334.1:p.Leu1469Met, XP_047289332.1:p.Leu1469Met, XP_011520551.1:p.Leu1469Met, XP_047289335.1:p.Leu1461Met, XP_047289333.1:p.Leu1469Met, XP_047289339.1:p.Leu1411Met, XP_047289338.1:p.Leu1419Met, XP_047289341.1:p.Leu1398Met, XP_047289342.1:p.Leu1390Met, XP_047289336.1:p.Leu1448Met, XP_005254861.1:p.Leu1398Met, XP_047289337.1:p.Leu1419Met, XP_047289340.1:p.Leu1411Met, XP_047289345.1:p.Leu1356Met, XP_047289343.1:p.Leu1390Met, XP_047289344.1:p.Leu1356Met, XP_047289346.1:p.Leu1348Met

                        12.

                        rs1474466308 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:43534689 (GRCh38)
                          15:43826887 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:43534688:A:G
                          Gene:
                          PPIP5K1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000011/2 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.43534689A>G, NC_000015.9:g.43826887A>G, NG_022929.1:g.60565T>C, NM_014659.6:c.4212T>C, NM_014659.5:c.4212T>C, NM_001130858.4:c.4287T>C, NM_001130858.3:c.4287T>C, NM_001130858.2:c.4287T>C, NM_001354382.3:c.4275T>C, NM_001354382.2:c.4275T>C, NM_001354382.1:c.4275T>C, NM_001130859.3:c.4212T>C, NM_001130859.2:c.4212T>C, NM_001354401.2:c.2283T>C, NM_001354401.1:c.2283T>C, NM_001354402.2:c.2196T>C, NM_001354402.1:c.2196T>C, NM_001354383.2:c.4275T>C, NM_001354383.1:c.4275T>C, NM_001354385.2:c.4275T>C, NM_001354385.1:c.4275T>C, NM_001354392.2:c.4212T>C, NM_001354392.1:c.4212T>C, NM_001354386.2:c.4275T>C, NM_001354386.1:c.4275T>C, NM_001354387.2:c.4251T>C, NM_001354387.1:c.4251T>C, NM_001354388.2:c.4251T>C, NM_001354388.1:c.4251T>C, NM_001354384.2:c.4275T>C, NM_001354384.1:c.4275T>C, NM_001354389.2:c.4251T>C, NM_001354389.1:c.4251T>C, NM_001354400.2:c.3447T>C, NM_001354400.1:c.3447T>C, NM_001354399.2:c.3447T>C, NM_001354399.1:c.3447T>C, NM_001190214.2:c.4206T>C, NM_001190214.1:c.4206T>C, NM_001354393.2:c.4188T>C, NM_001354393.1:c.4188T>C, NM_001354390.2:c.4212T>C, NM_001354390.1:c.4212T>C, NM_001354398.2:c.3447T>C, NM_001354398.1:c.3447T>C, NM_001354394.2:c.4128T>C, NM_001354394.1:c.4128T>C, NM_001354391.2:c.4212T>C, NM_001354391.1:c.4212T>C, NM_001354397.2:c.4086T>C, NM_001354397.1:c.4086T>C, NM_001354395.2:c.4086T>C, NM_001354395.1:c.4086T>C, NM_001354396.2:c.4086T>C, NM_001354396.1:c.4086T>C, NM_001394395.1:c.4458T>C, NM_001393970.1:c.4362T>C, NM_001393969.1:c.4362T>C, NM_001393971.1:c.4338T>C, XM_006720786.3:c.4086T>C, XM_006720786.2:c.4086T>C, XM_006720786.1:c.4086T>C, NM_001024463.3:c.3570T>C, XM_017022736.2:c.4425T>C, XM_017022736.1:c.4425T>C, XM_011522252.2:c.4425T>C, XM_011522252.1:c.4425T>C, XM_011522250.2:c.4425T>C, XM_011522250.1:c.4425T>C, XM_017022737.2:c.4425T>C, XM_017022737.1:c.4425T>C, XM_011522254.2:c.4425T>C, XM_011522254.1:c.4425T>C, XM_017022753.2:c.4188T>C, XM_017022753.1:c.4188T>C, XM_017022754.2:c.4086T>C, XM_017022754.1:c.4086T>C, XM_017022747.2:c.4236T>C, XM_017022747.1:c.4236T>C, XM_011522258.2:c.3660T>C, XM_011522258.1:c.3660T>C, NM_001024463.2:c.3570T>C, XM_047433378.1:c.4425T>C, XM_047433376.1:c.4425T>C, XM_011522249.1:c.4425T>C, XM_047433379.1:c.4401T>C, XM_047433377.1:c.4425T>C, XM_047433383.1:c.4251T>C, XM_047433382.1:c.4275T>C, XM_047433385.1:c.4212T>C, XM_047433386.1:c.4188T>C, XM_047433380.1:c.4362T>C, XM_005254804.1:c.4212T>C, XM_047433381.1:c.4275T>C, XM_047433384.1:c.4251T>C, XM_047433389.1:c.4086T>C, XM_047433387.1:c.4188T>C, XM_047433388.1:c.4086T>C, XM_047433390.1:c.4062T>C, NM_001024463.1:c.3570T>C

                          13.

                          rs1472365304 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            15:43581384 (GRCh38)
                            15:43873582 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:43581383:T:C
                            Gene:
                            PPIP5K1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000015/2 (GnomAD)
                            HGVS:
                            NC_000015.10:g.43581384T>C, NC_000015.9:g.43873582T>C, NG_022929.1:g.13870A>G, NM_014659.6:c.782A>G, NM_014659.5:c.782A>G, NM_001130858.4:c.782A>G, NM_001130858.3:c.782A>G, NM_001130858.2:c.782A>G, NM_001354382.3:c.782A>G, NM_001354382.2:c.782A>G, NM_001354382.1:c.782A>G, NM_001130859.3:c.782A>G, NM_001130859.2:c.782A>G, NM_001354401.2:c.-2685A>G, NM_001354401.1:c.-2685A>G, NM_001354402.2:c.-2685A>G, NM_001354402.1:c.-2685A>G, NM_001354383.2:c.782A>G, NM_001354383.1:c.782A>G, NM_001354385.2:c.782A>G, NM_001354385.1:c.782A>G, NM_001354392.2:c.782A>G, NM_001354392.1:c.782A>G, NM_001354386.2:c.782A>G, NM_001354386.1:c.782A>G, NM_001354387.2:c.782A>G, NM_001354387.1:c.782A>G, NM_001354388.2:c.782A>G, NM_001354388.1:c.782A>G, NM_001354384.2:c.782A>G, NM_001354384.1:c.782A>G, NM_001354389.2:c.782A>G, NM_001354389.1:c.782A>G, NM_001354400.2:c.17A>G, NM_001354400.1:c.17A>G, NM_001354399.2:c.17A>G, NM_001354399.1:c.17A>G, NM_001190214.2:c.782A>G, NM_001190214.1:c.782A>G, NM_001354393.2:c.782A>G, NM_001354393.1:c.782A>G, NM_001354390.2:c.782A>G, NM_001354390.1:c.782A>G, NM_001354398.2:c.17A>G, NM_001354398.1:c.17A>G, NM_001354394.2:c.782A>G, NM_001354394.1:c.782A>G, NM_001354391.2:c.782A>G, NM_001354391.1:c.782A>G, NM_001354397.2:c.782A>G, NM_001354397.1:c.782A>G, NM_001354395.2:c.782A>G, NM_001354395.1:c.782A>G, NM_001354396.2:c.782A>G, NM_001354396.1:c.782A>G, NM_001394395.1:c.782A>G, NM_001393970.1:c.782A>G, NM_001393969.1:c.782A>G, NM_001393971.1:c.782A>G, XM_006720786.3:c.782A>G, XM_006720786.2:c.782A>G, XM_006720786.1:c.782A>G, NM_001024463.3:c.782A>G, XM_017022736.2:c.782A>G, XM_017022736.1:c.782A>G, XM_011522252.2:c.782A>G, XM_011522252.1:c.782A>G, XM_011522250.2:c.782A>G, XM_011522250.1:c.782A>G, XM_017022737.2:c.782A>G, XM_017022737.1:c.782A>G, XM_011522254.2:c.782A>G, XM_011522254.1:c.782A>G, XM_017022753.2:c.782A>G, XM_017022753.1:c.782A>G, XM_017022754.2:c.782A>G, XM_017022754.1:c.782A>G, XM_017022747.2:c.782A>G, XM_017022747.1:c.782A>G, XM_011522258.2:c.17A>G, XM_011522258.1:c.17A>G, NM_001024463.2:c.782A>G, XM_047433378.1:c.782A>G, XM_047433376.1:c.782A>G, XM_011522249.1:c.782A>G, XM_047433379.1:c.782A>G, XM_047433377.1:c.782A>G, XM_047433383.1:c.782A>G, XM_047433382.1:c.782A>G, XM_047433385.1:c.782A>G, XM_047433386.1:c.782A>G, XM_047433380.1:c.782A>G, XM_005254804.1:c.782A>G, XM_047433381.1:c.782A>G, XM_047433384.1:c.782A>G, XM_047433389.1:c.782A>G, XM_047433387.1:c.782A>G, XM_047433388.1:c.782A>G, XM_047433390.1:c.782A>G, NM_001024463.1:c.782A>G, NP_055474.3:p.Tyr261Cys, NP_001124330.1:p.Tyr261Cys, NP_001341311.1:p.Tyr261Cys, NP_001124331.1:p.Tyr261Cys, NP_001341312.1:p.Tyr261Cys, NP_001341314.1:p.Tyr261Cys, NP_001341321.1:p.Tyr261Cys, NP_001341315.1:p.Tyr261Cys, NP_001341316.1:p.Tyr261Cys, NP_001341317.1:p.Tyr261Cys, NP_001341313.1:p.Tyr261Cys, NP_001341318.1:p.Tyr261Cys, NP_001341329.1:p.Tyr6Cys, NP_001341328.1:p.Tyr6Cys, NP_001177143.1:p.Tyr261Cys, NP_001341322.1:p.Tyr261Cys, NP_001341319.1:p.Tyr261Cys, NP_001341327.1:p.Tyr6Cys, NP_001341323.1:p.Tyr261Cys, NP_001341320.1:p.Tyr261Cys, NP_001341326.1:p.Tyr261Cys, NP_001341324.1:p.Tyr261Cys, NP_001341325.1:p.Tyr261Cys, NP_001381324.1:p.Tyr261Cys, NP_001380899.1:p.Tyr261Cys, NP_001380898.1:p.Tyr261Cys, NP_001380900.1:p.Tyr261Cys, XP_006720849.1:p.Tyr261Cys, XP_016878225.1:p.Tyr261Cys, XP_011520554.1:p.Tyr261Cys, XP_011520552.1:p.Tyr261Cys, XP_016878226.1:p.Tyr261Cys, XP_011520556.1:p.Tyr261Cys, XP_016878242.1:p.Tyr261Cys, XP_016878243.1:p.Tyr261Cys, XP_016878236.1:p.Tyr261Cys, XP_011520560.1:p.Tyr6Cys, XP_047289334.1:p.Tyr261Cys, XP_047289332.1:p.Tyr261Cys, XP_011520551.1:p.Tyr261Cys, XP_047289335.1:p.Tyr261Cys, XP_047289333.1:p.Tyr261Cys, XP_047289339.1:p.Tyr261Cys, XP_047289338.1:p.Tyr261Cys, XP_047289341.1:p.Tyr261Cys, XP_047289342.1:p.Tyr261Cys, XP_047289336.1:p.Tyr261Cys, XP_005254861.1:p.Tyr261Cys, XP_047289337.1:p.Tyr261Cys, XP_047289340.1:p.Tyr261Cys, XP_047289345.1:p.Tyr261Cys, XP_047289343.1:p.Tyr261Cys, XP_047289344.1:p.Tyr261Cys, XP_047289346.1:p.Tyr261Cys

                            14.

                            rs1470805370 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              15:43535412 (GRCh38)
                              15:43827610 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:43535411:A:C
                              Gene:
                              PPIP5K1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000051/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000015.10:g.43535412A>C, NC_000015.9:g.43827610A>C, NG_022929.1:g.59842T>G, NM_014659.6:c.3489T>G, NM_014659.5:c.3489T>G, NM_001130858.4:c.3564T>G, NM_001130858.3:c.3564T>G, NM_001130858.2:c.3564T>G, NM_001354382.3:c.3552T>G, NM_001354382.2:c.3552T>G, NM_001354382.1:c.3552T>G, NM_001130859.3:c.3489T>G, NM_001130859.2:c.3489T>G, NM_001354401.2:c.1560T>G, NM_001354401.1:c.1560T>G, NM_001354402.2:c.1473T>G, NM_001354402.1:c.1473T>G, NM_001354383.2:c.3552T>G, NM_001354383.1:c.3552T>G, NM_001354385.2:c.3552T>G, NM_001354385.1:c.3552T>G, NM_001354392.2:c.3489T>G, NM_001354392.1:c.3489T>G, NM_001354386.2:c.3552T>G, NM_001354386.1:c.3552T>G, NM_001354387.2:c.3528T>G, NM_001354387.1:c.3528T>G, NM_001354388.2:c.3528T>G, NM_001354388.1:c.3528T>G, NM_001354384.2:c.3552T>G, NM_001354384.1:c.3552T>G, NM_001354389.2:c.3528T>G, NM_001354389.1:c.3528T>G, NM_001354400.2:c.2724T>G, NM_001354400.1:c.2724T>G, NM_001354399.2:c.2724T>G, NM_001354399.1:c.2724T>G, NM_001190214.2:c.3483T>G, NM_001190214.1:c.3483T>G, NM_001354393.2:c.3465T>G, NM_001354393.1:c.3465T>G, NM_001354390.2:c.3489T>G, NM_001354390.1:c.3489T>G, NM_001354398.2:c.2724T>G, NM_001354398.1:c.2724T>G, NM_001354394.2:c.3405T>G, NM_001354394.1:c.3405T>G, NM_001354391.2:c.3489T>G, NM_001354391.1:c.3489T>G, NM_001354397.2:c.3363T>G, NM_001354397.1:c.3363T>G, NM_001354395.2:c.3363T>G, NM_001354395.1:c.3363T>G, NM_001354396.2:c.3363T>G, NM_001354396.1:c.3363T>G, NM_001394395.1:c.3735T>G, NM_001393970.1:c.3639T>G, NM_001393969.1:c.3639T>G, NM_001393971.1:c.3615T>G, XM_006720786.3:c.3363T>G, XM_006720786.2:c.3363T>G, XM_006720786.1:c.3363T>G, XM_017022736.2:c.3702T>G, XM_017022736.1:c.3702T>G, XM_011522252.2:c.3702T>G, XM_011522252.1:c.3702T>G, XM_011522250.2:c.3702T>G, XM_011522250.1:c.3702T>G, XM_017022737.2:c.3702T>G, XM_017022737.1:c.3702T>G, XM_011522254.2:c.3702T>G, XM_011522254.1:c.3702T>G, XM_017022753.2:c.3465T>G, XM_017022753.1:c.3465T>G, XM_017022754.2:c.3363T>G, XM_017022754.1:c.3363T>G, XM_017022747.2:c.3513T>G, XM_017022747.1:c.3513T>G, XM_011522258.2:c.2937T>G, XM_011522258.1:c.2937T>G, XM_047433378.1:c.3702T>G, XM_047433376.1:c.3702T>G, XM_011522249.1:c.3702T>G, XM_047433379.1:c.3678T>G, XM_047433377.1:c.3702T>G, XM_047433383.1:c.3528T>G, XM_047433382.1:c.3552T>G, XM_047433385.1:c.3489T>G, XM_047433386.1:c.3465T>G, XM_047433380.1:c.3639T>G, XM_005254804.1:c.3489T>G, XM_047433381.1:c.3552T>G, XM_047433384.1:c.3528T>G, XM_047433389.1:c.3363T>G, XM_047433387.1:c.3465T>G, XM_047433388.1:c.3363T>G, XM_047433390.1:c.3339T>G

                              15.

                              rs1469808339 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                15:43535225 (GRCh38)
                                15:43827423 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:43535224:A:G
                                Gene:
                                PPIP5K1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000071/1 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000015.10:g.43535225A>G, NC_000015.9:g.43827423A>G, NG_022929.1:g.60029T>C, NM_014659.6:c.3676T>C, NM_014659.5:c.3676T>C, NM_001130858.4:c.3751T>C, NM_001130858.3:c.3751T>C, NM_001130858.2:c.3751T>C, NM_001354382.3:c.3739T>C, NM_001354382.2:c.3739T>C, NM_001354382.1:c.3739T>C, NM_001130859.3:c.3676T>C, NM_001130859.2:c.3676T>C, NM_001354401.2:c.1747T>C, NM_001354401.1:c.1747T>C, NM_001354402.2:c.1660T>C, NM_001354402.1:c.1660T>C, NM_001354383.2:c.3739T>C, NM_001354383.1:c.3739T>C, NM_001354385.2:c.3739T>C, NM_001354385.1:c.3739T>C, NM_001354392.2:c.3676T>C, NM_001354392.1:c.3676T>C, NM_001354386.2:c.3739T>C, NM_001354386.1:c.3739T>C, NM_001354387.2:c.3715T>C, NM_001354387.1:c.3715T>C, NM_001354388.2:c.3715T>C, NM_001354388.1:c.3715T>C, NM_001354384.2:c.3739T>C, NM_001354384.1:c.3739T>C, NM_001354389.2:c.3715T>C, NM_001354389.1:c.3715T>C, NM_001354400.2:c.2911T>C, NM_001354400.1:c.2911T>C, NM_001354399.2:c.2911T>C, NM_001354399.1:c.2911T>C, NM_001190214.2:c.3670T>C, NM_001190214.1:c.3670T>C, NM_001354393.2:c.3652T>C, NM_001354393.1:c.3652T>C, NM_001354390.2:c.3676T>C, NM_001354390.1:c.3676T>C, NM_001354398.2:c.2911T>C, NM_001354398.1:c.2911T>C, NM_001354394.2:c.3592T>C, NM_001354394.1:c.3592T>C, NM_001354391.2:c.3676T>C, NM_001354391.1:c.3676T>C, NM_001354397.2:c.3550T>C, NM_001354397.1:c.3550T>C, NM_001354395.2:c.3550T>C, NM_001354395.1:c.3550T>C, NM_001354396.2:c.3550T>C, NM_001354396.1:c.3550T>C, NM_001394395.1:c.3922T>C, NM_001393970.1:c.3826T>C, NM_001393969.1:c.3826T>C, NM_001393971.1:c.3802T>C, XM_006720786.3:c.3550T>C, XM_006720786.2:c.3550T>C, XM_006720786.1:c.3550T>C, NM_001024463.3:c.3034T>C, XM_017022736.2:c.3889T>C, XM_017022736.1:c.3889T>C, XM_011522252.2:c.3889T>C, XM_011522252.1:c.3889T>C, XM_011522250.2:c.3889T>C, XM_011522250.1:c.3889T>C, XM_017022737.2:c.3889T>C, XM_017022737.1:c.3889T>C, XM_011522254.2:c.3889T>C, XM_011522254.1:c.3889T>C, XM_017022753.2:c.3652T>C, XM_017022753.1:c.3652T>C, XM_017022754.2:c.3550T>C, XM_017022754.1:c.3550T>C, XM_017022747.2:c.3700T>C, XM_017022747.1:c.3700T>C, XM_011522258.2:c.3124T>C, XM_011522258.1:c.3124T>C, NM_001024463.2:c.3034T>C, XM_047433378.1:c.3889T>C, XM_047433376.1:c.3889T>C, XM_011522249.1:c.3889T>C, XM_047433379.1:c.3865T>C, XM_047433377.1:c.3889T>C, XM_047433383.1:c.3715T>C, XM_047433382.1:c.3739T>C, XM_047433385.1:c.3676T>C, XM_047433386.1:c.3652T>C, XM_047433380.1:c.3826T>C, XM_005254804.1:c.3676T>C, XM_047433381.1:c.3739T>C, XM_047433384.1:c.3715T>C, XM_047433389.1:c.3550T>C, XM_047433387.1:c.3652T>C, XM_047433388.1:c.3550T>C, XM_047433390.1:c.3526T>C, NM_001024463.1:c.3034T>C, NP_055474.3:p.Tyr1226His, NP_001124330.1:p.Tyr1251His, NP_001341311.1:p.Tyr1247His, NP_001124331.1:p.Tyr1226His, NP_001341330.1:p.Tyr583His, NP_001341331.1:p.Tyr554His, NP_001341312.1:p.Tyr1247His, NP_001341314.1:p.Tyr1247His, NP_001341321.1:p.Tyr1226His, NP_001341315.1:p.Tyr1247His, NP_001341316.1:p.Tyr1239His, NP_001341317.1:p.Tyr1239His, NP_001341313.1:p.Tyr1247His, NP_001341318.1:p.Tyr1239His, NP_001341329.1:p.Tyr971His, NP_001341328.1:p.Tyr971His, NP_001177143.1:p.Tyr1224His, NP_001341322.1:p.Tyr1218His, NP_001341319.1:p.Tyr1226His, NP_001341327.1:p.Tyr971His, NP_001341323.1:p.Tyr1198His, NP_001341320.1:p.Tyr1226His, NP_001341326.1:p.Tyr1184His, NP_001341324.1:p.Tyr1184His, NP_001341325.1:p.Tyr1184His, NP_001381324.1:p.Tyr1308His, NP_001380899.1:p.Tyr1276His, NP_001380898.1:p.Tyr1276His, NP_001380900.1:p.Tyr1268His, XP_006720849.1:p.Tyr1184His, XP_016878225.1:p.Tyr1297His, XP_011520554.1:p.Tyr1297His, XP_011520552.1:p.Tyr1297His, XP_016878226.1:p.Tyr1297His, XP_011520556.1:p.Tyr1297His, XP_016878242.1:p.Tyr1218His, XP_016878243.1:p.Tyr1184His, XP_016878236.1:p.Tyr1234His, XP_011520560.1:p.Tyr1042His, XP_047289334.1:p.Tyr1297His, XP_047289332.1:p.Tyr1297His, XP_011520551.1:p.Tyr1297His, XP_047289335.1:p.Tyr1289His, XP_047289333.1:p.Tyr1297His, XP_047289339.1:p.Tyr1239His, XP_047289338.1:p.Tyr1247His, XP_047289341.1:p.Tyr1226His, XP_047289342.1:p.Tyr1218His, XP_047289336.1:p.Tyr1276His, XP_005254861.1:p.Tyr1226His, XP_047289337.1:p.Tyr1247His, XP_047289340.1:p.Tyr1239His, XP_047289345.1:p.Tyr1184His, XP_047289343.1:p.Tyr1218His, XP_047289344.1:p.Tyr1184His, XP_047289346.1:p.Tyr1176His

                                16.

                                rs1468448895 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  15:43558847 (GRCh38)
                                  15:43851045 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:43558846:G:T
                                  Gene:
                                  PPIP5K1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.43558847G>T, NC_000015.9:g.43851045G>T, NG_022929.1:g.36407C>A, NM_014659.6:c.3258C>A, NM_014659.5:c.3258C>A, NM_001130858.4:c.3333C>A, NM_001130858.3:c.3333C>A, NM_001130858.2:c.3333C>A, NM_001354382.3:c.3321C>A, NM_001354382.2:c.3321C>A, NM_001354382.1:c.3321C>A, NM_001130859.3:c.3258C>A, NM_001130859.2:c.3258C>A, NM_001354401.2:c.1329C>A, NM_001354401.1:c.1329C>A, NM_001354402.2:c.1242C>A, NM_001354402.1:c.1242C>A, NM_001354383.2:c.3321C>A, NM_001354383.1:c.3321C>A, NM_001354385.2:c.3321C>A, NM_001354385.1:c.3321C>A, NM_001354392.2:c.3258C>A, NM_001354392.1:c.3258C>A, NM_001354386.2:c.3321C>A, NM_001354386.1:c.3321C>A, NM_001354387.2:c.3297C>A, NM_001354387.1:c.3297C>A, NM_001354388.2:c.3297C>A, NM_001354388.1:c.3297C>A, NM_001354384.2:c.3321C>A, NM_001354384.1:c.3321C>A, NM_001354389.2:c.3297C>A, NM_001354389.1:c.3297C>A, NM_001354400.2:c.2493C>A, NM_001354400.1:c.2493C>A, NM_001354399.2:c.2493C>A, NM_001354399.1:c.2493C>A, NM_001190214.2:c.3132C>A, NM_001190214.1:c.3132C>A, NM_001354393.2:c.3234C>A, NM_001354393.1:c.3234C>A, NM_001354390.2:c.3258C>A, NM_001354390.1:c.3258C>A, NM_001354398.2:c.2493C>A, NM_001354398.1:c.2493C>A, NM_001354394.2:c.3174C>A, NM_001354394.1:c.3174C>A, NM_001354391.2:c.3258C>A, NM_001354391.1:c.3258C>A, NM_001354397.2:c.3132C>A, NM_001354397.1:c.3132C>A, NM_001354395.2:c.3132C>A, NM_001354395.1:c.3132C>A, NM_001354396.2:c.3132C>A, NM_001354396.1:c.3132C>A, NM_001394395.1:c.3504C>A, NM_001393970.1:c.3408C>A, NM_001393969.1:c.3408C>A, NM_001393971.1:c.3384C>A, XM_006720786.3:c.3132C>A, XM_006720786.2:c.3132C>A, XM_006720786.1:c.3132C>A, XM_017022736.2:c.3471C>A, XM_017022736.1:c.3471C>A, XM_011522252.2:c.3471C>A, XM_011522252.1:c.3471C>A, XM_011522250.2:c.3471C>A, XM_011522250.1:c.3471C>A, XM_017022737.2:c.3471C>A, XM_017022737.1:c.3471C>A, XM_011522254.2:c.3471C>A, XM_011522254.1:c.3471C>A, XM_017022753.2:c.3234C>A, XM_017022753.1:c.3234C>A, XM_017022754.2:c.3132C>A, XM_017022754.1:c.3132C>A, XM_017022747.2:c.3282C>A, XM_017022747.1:c.3282C>A, XM_011522258.2:c.2706C>A, XM_011522258.1:c.2706C>A, XM_047433378.1:c.3471C>A, XM_047433376.1:c.3471C>A, XM_011522249.1:c.3471C>A, XM_047433379.1:c.3447C>A, XM_047433377.1:c.3471C>A, XM_047433383.1:c.3297C>A, XM_047433382.1:c.3321C>A, XM_047433385.1:c.3258C>A, XM_047433386.1:c.3234C>A, XM_047433380.1:c.3408C>A, XM_005254804.1:c.3258C>A, XM_047433381.1:c.3321C>A, XM_047433384.1:c.3297C>A, XM_047433389.1:c.3132C>A, XM_047433387.1:c.3234C>A, XM_047433388.1:c.3132C>A, XM_047433390.1:c.3108C>A, NP_055474.3:p.Phe1086Leu, NP_001124330.1:p.Phe1111Leu, NP_001341311.1:p.Phe1107Leu, NP_001124331.1:p.Phe1086Leu, NP_001341330.1:p.Phe443Leu, NP_001341331.1:p.Phe414Leu, NP_001341312.1:p.Phe1107Leu, NP_001341314.1:p.Phe1107Leu, NP_001341321.1:p.Phe1086Leu, NP_001341315.1:p.Phe1107Leu, NP_001341316.1:p.Phe1099Leu, NP_001341317.1:p.Phe1099Leu, NP_001341313.1:p.Phe1107Leu, NP_001341318.1:p.Phe1099Leu, NP_001341329.1:p.Phe831Leu, NP_001341328.1:p.Phe831Leu, NP_001177143.1:p.Phe1044Leu, NP_001341322.1:p.Phe1078Leu, NP_001341319.1:p.Phe1086Leu, NP_001341327.1:p.Phe831Leu, NP_001341323.1:p.Phe1058Leu, NP_001341320.1:p.Phe1086Leu, NP_001341326.1:p.Phe1044Leu, NP_001341324.1:p.Phe1044Leu, NP_001341325.1:p.Phe1044Leu, NP_001381324.1:p.Phe1168Leu, NP_001380899.1:p.Phe1136Leu, NP_001380898.1:p.Phe1136Leu, NP_001380900.1:p.Phe1128Leu, XP_006720849.1:p.Phe1044Leu, XP_016878225.1:p.Phe1157Leu, XP_011520554.1:p.Phe1157Leu, XP_011520552.1:p.Phe1157Leu, XP_016878226.1:p.Phe1157Leu, XP_011520556.1:p.Phe1157Leu, XP_016878242.1:p.Phe1078Leu, XP_016878243.1:p.Phe1044Leu, XP_016878236.1:p.Phe1094Leu, XP_011520560.1:p.Phe902Leu, XP_047289334.1:p.Phe1157Leu, XP_047289332.1:p.Phe1157Leu, XP_011520551.1:p.Phe1157Leu, XP_047289335.1:p.Phe1149Leu, XP_047289333.1:p.Phe1157Leu, XP_047289339.1:p.Phe1099Leu, XP_047289338.1:p.Phe1107Leu, XP_047289341.1:p.Phe1086Leu, XP_047289342.1:p.Phe1078Leu, XP_047289336.1:p.Phe1136Leu, XP_005254861.1:p.Phe1086Leu, XP_047289337.1:p.Phe1107Leu, XP_047289340.1:p.Phe1099Leu, XP_047289345.1:p.Phe1044Leu, XP_047289343.1:p.Phe1078Leu, XP_047289344.1:p.Phe1044Leu, XP_047289346.1:p.Phe1036Leu

                                  17.

                                  rs1463957943 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    15:43539520 (GRCh38)
                                    15:43831718 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:43539519:A:G
                                    Gene:
                                    PPIP5K1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000015.10:g.43539520A>G, NC_000015.9:g.43831718A>G, NG_022929.1:g.55734T>C, NM_014659.6:c.3374T>C, NM_014659.5:c.3374T>C, NM_001130858.4:c.3449T>C, NM_001130858.3:c.3449T>C, NM_001130858.2:c.3449T>C, NM_001354382.3:c.3437T>C, NM_001354382.2:c.3437T>C, NM_001354382.1:c.3437T>C, NM_001130859.3:c.3374T>C, NM_001130859.2:c.3374T>C, NM_001354401.2:c.1445T>C, NM_001354401.1:c.1445T>C, NM_001354402.2:c.1358T>C, NM_001354402.1:c.1358T>C, NM_001354383.2:c.3437T>C, NM_001354383.1:c.3437T>C, NM_001354385.2:c.3437T>C, NM_001354385.1:c.3437T>C, NM_001354392.2:c.3374T>C, NM_001354392.1:c.3374T>C, NM_001354386.2:c.3437T>C, NM_001354386.1:c.3437T>C, NM_001354387.2:c.3413T>C, NM_001354387.1:c.3413T>C, NM_001354388.2:c.3413T>C, NM_001354388.1:c.3413T>C, NM_001354384.2:c.3437T>C, NM_001354384.1:c.3437T>C, NM_001354389.2:c.3413T>C, NM_001354389.1:c.3413T>C, NM_001354400.2:c.2609T>C, NM_001354400.1:c.2609T>C, NM_001354399.2:c.2609T>C, NM_001354399.1:c.2609T>C, NM_001190214.2:c.3248T>C, NM_001190214.1:c.3248T>C, NM_001354393.2:c.3350T>C, NM_001354393.1:c.3350T>C, NM_001354390.2:c.3374T>C, NM_001354390.1:c.3374T>C, NM_001354398.2:c.2609T>C, NM_001354398.1:c.2609T>C, NM_001354394.2:c.3290T>C, NM_001354394.1:c.3290T>C, NM_001354391.2:c.3374T>C, NM_001354391.1:c.3374T>C, NM_001354397.2:c.3248T>C, NM_001354397.1:c.3248T>C, NM_001354395.2:c.3248T>C, NM_001354395.1:c.3248T>C, NM_001354396.2:c.3248T>C, NM_001354396.1:c.3248T>C, NM_001394395.1:c.3620T>C, NM_001393970.1:c.3524T>C, NM_001393969.1:c.3524T>C, NM_001393971.1:c.3500T>C, XM_006720786.3:c.3248T>C, XM_006720786.2:c.3248T>C, XM_006720786.1:c.3248T>C, XM_017022736.2:c.3587T>C, XM_017022736.1:c.3587T>C, XM_011522252.2:c.3587T>C, XM_011522252.1:c.3587T>C, XM_011522250.2:c.3587T>C, XM_011522250.1:c.3587T>C, XM_017022737.2:c.3587T>C, XM_017022737.1:c.3587T>C, XM_011522254.2:c.3587T>C, XM_011522254.1:c.3587T>C, XM_017022753.2:c.3350T>C, XM_017022753.1:c.3350T>C, XM_017022754.2:c.3248T>C, XM_017022754.1:c.3248T>C, XM_017022747.2:c.3398T>C, XM_017022747.1:c.3398T>C, XM_011522258.2:c.2822T>C, XM_011522258.1:c.2822T>C, XM_047433378.1:c.3587T>C, XM_047433376.1:c.3587T>C, XM_011522249.1:c.3587T>C, XM_047433379.1:c.3563T>C, XM_047433377.1:c.3587T>C, XM_047433383.1:c.3413T>C, XM_047433382.1:c.3437T>C, XM_047433385.1:c.3374T>C, XM_047433386.1:c.3350T>C, XM_047433380.1:c.3524T>C, XM_005254804.1:c.3374T>C, XM_047433381.1:c.3437T>C, XM_047433384.1:c.3413T>C, XM_047433389.1:c.3248T>C, XM_047433387.1:c.3350T>C, XM_047433388.1:c.3248T>C, XM_047433390.1:c.3224T>C, NP_055474.3:p.Leu1125Pro, NP_001124330.1:p.Leu1150Pro, NP_001341311.1:p.Leu1146Pro, NP_001124331.1:p.Leu1125Pro, NP_001341330.1:p.Leu482Pro, NP_001341331.1:p.Leu453Pro, NP_001341312.1:p.Leu1146Pro, NP_001341314.1:p.Leu1146Pro, NP_001341321.1:p.Leu1125Pro, NP_001341315.1:p.Leu1146Pro, NP_001341316.1:p.Leu1138Pro, NP_001341317.1:p.Leu1138Pro, NP_001341313.1:p.Leu1146Pro, NP_001341318.1:p.Leu1138Pro, NP_001341329.1:p.Leu870Pro, NP_001341328.1:p.Leu870Pro, NP_001177143.1:p.Leu1083Pro, NP_001341322.1:p.Leu1117Pro, NP_001341319.1:p.Leu1125Pro, NP_001341327.1:p.Leu870Pro, NP_001341323.1:p.Leu1097Pro, NP_001341320.1:p.Leu1125Pro, NP_001341326.1:p.Leu1083Pro, NP_001341324.1:p.Leu1083Pro, NP_001341325.1:p.Leu1083Pro, NP_001381324.1:p.Leu1207Pro, NP_001380899.1:p.Leu1175Pro, NP_001380898.1:p.Leu1175Pro, NP_001380900.1:p.Leu1167Pro, XP_006720849.1:p.Leu1083Pro, XP_016878225.1:p.Leu1196Pro, XP_011520554.1:p.Leu1196Pro, XP_011520552.1:p.Leu1196Pro, XP_016878226.1:p.Leu1196Pro, XP_011520556.1:p.Leu1196Pro, XP_016878242.1:p.Leu1117Pro, XP_016878243.1:p.Leu1083Pro, XP_016878236.1:p.Leu1133Pro, XP_011520560.1:p.Leu941Pro, XP_047289334.1:p.Leu1196Pro, XP_047289332.1:p.Leu1196Pro, XP_011520551.1:p.Leu1196Pro, XP_047289335.1:p.Leu1188Pro, XP_047289333.1:p.Leu1196Pro, XP_047289339.1:p.Leu1138Pro, XP_047289338.1:p.Leu1146Pro, XP_047289341.1:p.Leu1125Pro, XP_047289342.1:p.Leu1117Pro, XP_047289336.1:p.Leu1175Pro, XP_005254861.1:p.Leu1125Pro, XP_047289337.1:p.Leu1146Pro, XP_047289340.1:p.Leu1138Pro, XP_047289345.1:p.Leu1083Pro, XP_047289343.1:p.Leu1117Pro, XP_047289344.1:p.Leu1083Pro, XP_047289346.1:p.Leu1075Pro

                                    18.

                                    rs1461663000 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A [Show Flanks]
                                      Chromosome:
                                      15:43534895 (GRCh38)
                                      15:43827093 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:43534894:C:A
                                      Gene:
                                      PPIP5K1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000015.10:g.43534895C>A, NC_000015.9:g.43827093C>A, NG_022929.1:g.60359G>T, NM_014659.6:c.4006G>T, NM_014659.5:c.4006G>T, NM_001130858.4:c.4081G>T, NM_001130858.3:c.4081G>T, NM_001130858.2:c.4081G>T, NM_001354382.3:c.4069G>T, NM_001354382.2:c.4069G>T, NM_001354382.1:c.4069G>T, NM_001130859.3:c.4006G>T, NM_001130859.2:c.4006G>T, NM_001354401.2:c.2077G>T, NM_001354401.1:c.2077G>T, NM_001354402.2:c.1990G>T, NM_001354402.1:c.1990G>T, NM_001354383.2:c.4069G>T, NM_001354383.1:c.4069G>T, NM_001354385.2:c.4069G>T, NM_001354385.1:c.4069G>T, NM_001354392.2:c.4006G>T, NM_001354392.1:c.4006G>T, NM_001354386.2:c.4069G>T, NM_001354386.1:c.4069G>T, NM_001354387.2:c.4045G>T, NM_001354387.1:c.4045G>T, NM_001354388.2:c.4045G>T, NM_001354388.1:c.4045G>T, NM_001354384.2:c.4069G>T, NM_001354384.1:c.4069G>T, NM_001354389.2:c.4045G>T, NM_001354389.1:c.4045G>T, NM_001354400.2:c.3241G>T, NM_001354400.1:c.3241G>T, NM_001354399.2:c.3241G>T, NM_001354399.1:c.3241G>T, NM_001190214.2:c.4000G>T, NM_001190214.1:c.4000G>T, NM_001354393.2:c.3982G>T, NM_001354393.1:c.3982G>T, NM_001354390.2:c.4006G>T, NM_001354390.1:c.4006G>T, NM_001354398.2:c.3241G>T, NM_001354398.1:c.3241G>T, NM_001354394.2:c.3922G>T, NM_001354394.1:c.3922G>T, NM_001354391.2:c.4006G>T, NM_001354391.1:c.4006G>T, NM_001354397.2:c.3880G>T, NM_001354397.1:c.3880G>T, NM_001354395.2:c.3880G>T, NM_001354395.1:c.3880G>T, NM_001354396.2:c.3880G>T, NM_001354396.1:c.3880G>T, NM_001394395.1:c.4252G>T, NM_001393970.1:c.4156G>T, NM_001393969.1:c.4156G>T, NM_001393971.1:c.4132G>T, XM_006720786.3:c.3880G>T, XM_006720786.2:c.3880G>T, XM_006720786.1:c.3880G>T, NM_001024463.3:c.3364G>T, XM_017022736.2:c.4219G>T, XM_017022736.1:c.4219G>T, XM_011522252.2:c.4219G>T, XM_011522252.1:c.4219G>T, XM_011522250.2:c.4219G>T, XM_011522250.1:c.4219G>T, XM_017022737.2:c.4219G>T, XM_017022737.1:c.4219G>T, XM_011522254.2:c.4219G>T, XM_011522254.1:c.4219G>T, XM_017022753.2:c.3982G>T, XM_017022753.1:c.3982G>T, XM_017022754.2:c.3880G>T, XM_017022754.1:c.3880G>T, XM_017022747.2:c.4030G>T, XM_017022747.1:c.4030G>T, XM_011522258.2:c.3454G>T, XM_011522258.1:c.3454G>T, NM_001024463.2:c.3364G>T, XM_047433378.1:c.4219G>T, XM_047433376.1:c.4219G>T, XM_011522249.1:c.4219G>T, XM_047433379.1:c.4195G>T, XM_047433377.1:c.4219G>T, XM_047433383.1:c.4045G>T, XM_047433382.1:c.4069G>T, XM_047433385.1:c.4006G>T, XM_047433386.1:c.3982G>T, XM_047433380.1:c.4156G>T, XM_005254804.1:c.4006G>T, XM_047433381.1:c.4069G>T, XM_047433384.1:c.4045G>T, XM_047433389.1:c.3880G>T, XM_047433387.1:c.3982G>T, XM_047433388.1:c.3880G>T, XM_047433390.1:c.3856G>T, NM_001024463.1:c.3364G>T, NP_055474.3:p.Val1336Phe, NP_001124330.1:p.Val1361Phe, NP_001341311.1:p.Val1357Phe, NP_001124331.1:p.Val1336Phe, NP_001341330.1:p.Val693Phe, NP_001341331.1:p.Val664Phe, NP_001341312.1:p.Val1357Phe, NP_001341314.1:p.Val1357Phe, NP_001341321.1:p.Val1336Phe, NP_001341315.1:p.Val1357Phe, NP_001341316.1:p.Val1349Phe, NP_001341317.1:p.Val1349Phe, NP_001341313.1:p.Val1357Phe, NP_001341318.1:p.Val1349Phe, NP_001341329.1:p.Val1081Phe, NP_001341328.1:p.Val1081Phe, NP_001177143.1:p.Val1334Phe, NP_001341322.1:p.Val1328Phe, NP_001341319.1:p.Val1336Phe, NP_001341327.1:p.Val1081Phe, NP_001341323.1:p.Val1308Phe, NP_001341320.1:p.Val1336Phe, NP_001341326.1:p.Val1294Phe, NP_001341324.1:p.Val1294Phe, NP_001341325.1:p.Val1294Phe, NP_001381324.1:p.Val1418Phe, NP_001380899.1:p.Val1386Phe, NP_001380898.1:p.Val1386Phe, NP_001380900.1:p.Val1378Phe, XP_006720849.1:p.Val1294Phe, XP_016878225.1:p.Val1407Phe, XP_011520554.1:p.Val1407Phe, XP_011520552.1:p.Val1407Phe, XP_016878226.1:p.Val1407Phe, XP_011520556.1:p.Val1407Phe, XP_016878242.1:p.Val1328Phe, XP_016878243.1:p.Val1294Phe, XP_016878236.1:p.Val1344Phe, XP_011520560.1:p.Val1152Phe, XP_047289334.1:p.Val1407Phe, XP_047289332.1:p.Val1407Phe, XP_011520551.1:p.Val1407Phe, XP_047289335.1:p.Val1399Phe, XP_047289333.1:p.Val1407Phe, XP_047289339.1:p.Val1349Phe, XP_047289338.1:p.Val1357Phe, XP_047289341.1:p.Val1336Phe, XP_047289342.1:p.Val1328Phe, XP_047289336.1:p.Val1386Phe, XP_005254861.1:p.Val1336Phe, XP_047289337.1:p.Val1357Phe, XP_047289340.1:p.Val1349Phe, XP_047289345.1:p.Val1294Phe, XP_047289343.1:p.Val1328Phe, XP_047289344.1:p.Val1294Phe, XP_047289346.1:p.Val1286Phe

                                      19.

                                      rs1460886664 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        15:43535132 (GRCh38)
                                        15:43827330 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:43535131:C:A,NC_000015.10:43535131:C:T
                                        Gene:
                                        PPIP5K1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.43535132C>A, NC_000015.10:g.43535132C>T, NC_000015.9:g.43827330C>A, NC_000015.9:g.43827330C>T, NG_022929.1:g.60122G>T, NG_022929.1:g.60122G>A, NM_014659.6:c.3769G>T, NM_014659.6:c.3769G>A, NM_014659.5:c.3769G>T, NM_014659.5:c.3769G>A, NM_001130858.4:c.3844G>T, NM_001130858.4:c.3844G>A, NM_001130858.3:c.3844G>T, NM_001130858.3:c.3844G>A, NM_001130858.2:c.3844G>T, NM_001130858.2:c.3844G>A, NM_001354382.3:c.3832G>T, NM_001354382.3:c.3832G>A, NM_001354382.2:c.3832G>T, NM_001354382.2:c.3832G>A, NM_001354382.1:c.3832G>T, NM_001354382.1:c.3832G>A, NM_001130859.3:c.3769G>T, NM_001130859.3:c.3769G>A, NM_001130859.2:c.3769G>T, NM_001130859.2:c.3769G>A, NM_001354401.2:c.1840G>T, NM_001354401.2:c.1840G>A, NM_001354401.1:c.1840G>T, NM_001354401.1:c.1840G>A, NM_001354402.2:c.1753G>T, NM_001354402.2:c.1753G>A, NM_001354402.1:c.1753G>T, NM_001354402.1:c.1753G>A, NM_001354383.2:c.3832G>T, NM_001354383.2:c.3832G>A, NM_001354383.1:c.3832G>T, NM_001354383.1:c.3832G>A, NM_001354385.2:c.3832G>T, NM_001354385.2:c.3832G>A, NM_001354385.1:c.3832G>T, NM_001354385.1:c.3832G>A, NM_001354392.2:c.3769G>T, NM_001354392.2:c.3769G>A, NM_001354392.1:c.3769G>T, NM_001354392.1:c.3769G>A, NM_001354386.2:c.3832G>T, NM_001354386.2:c.3832G>A, NM_001354386.1:c.3832G>T, NM_001354386.1:c.3832G>A, NM_001354387.2:c.3808G>T, NM_001354387.2:c.3808G>A, NM_001354387.1:c.3808G>T, NM_001354387.1:c.3808G>A, NM_001354388.2:c.3808G>T, NM_001354388.2:c.3808G>A, NM_001354388.1:c.3808G>T, NM_001354388.1:c.3808G>A, NM_001354384.2:c.3832G>T, NM_001354384.2:c.3832G>A, NM_001354384.1:c.3832G>T, NM_001354384.1:c.3832G>A, NM_001354389.2:c.3808G>T, NM_001354389.2:c.3808G>A, NM_001354389.1:c.3808G>T, NM_001354389.1:c.3808G>A, NM_001354400.2:c.3004G>T, NM_001354400.2:c.3004G>A, NM_001354400.1:c.3004G>T, NM_001354400.1:c.3004G>A, NM_001354399.2:c.3004G>T, NM_001354399.2:c.3004G>A, NM_001354399.1:c.3004G>T, NM_001354399.1:c.3004G>A, NM_001190214.2:c.3763G>T, NM_001190214.2:c.3763G>A, NM_001190214.1:c.3763G>T, NM_001190214.1:c.3763G>A, NM_001354393.2:c.3745G>T, NM_001354393.2:c.3745G>A, NM_001354393.1:c.3745G>T, NM_001354393.1:c.3745G>A, NM_001354390.2:c.3769G>T, NM_001354390.2:c.3769G>A, NM_001354390.1:c.3769G>T, NM_001354390.1:c.3769G>A, NM_001354398.2:c.3004G>T, NM_001354398.2:c.3004G>A, NM_001354398.1:c.3004G>T, NM_001354398.1:c.3004G>A, NM_001354394.2:c.3685G>T, NM_001354394.2:c.3685G>A, NM_001354394.1:c.3685G>T, NM_001354394.1:c.3685G>A, NM_001354391.2:c.3769G>T, NM_001354391.2:c.3769G>A, NM_001354391.1:c.3769G>T, NM_001354391.1:c.3769G>A, NM_001354397.2:c.3643G>T, NM_001354397.2:c.3643G>A, NM_001354397.1:c.3643G>T, NM_001354397.1:c.3643G>A, NM_001354395.2:c.3643G>T, NM_001354395.2:c.3643G>A, NM_001354395.1:c.3643G>T, NM_001354395.1:c.3643G>A, NM_001354396.2:c.3643G>T, NM_001354396.2:c.3643G>A, NM_001354396.1:c.3643G>T, NM_001354396.1:c.3643G>A, NM_001394395.1:c.4015G>T, NM_001394395.1:c.4015G>A, NM_001393970.1:c.3919G>T, NM_001393970.1:c.3919G>A, NM_001393969.1:c.3919G>T, NM_001393969.1:c.3919G>A, NM_001393971.1:c.3895G>T, NM_001393971.1:c.3895G>A, XM_006720786.3:c.3643G>T, XM_006720786.3:c.3643G>A, XM_006720786.2:c.3643G>T, XM_006720786.2:c.3643G>A, XM_006720786.1:c.3643G>T, XM_006720786.1:c.3643G>A, NM_001024463.3:c.3127G>T, NM_001024463.3:c.3127G>A, XM_017022736.2:c.3982G>T, XM_017022736.2:c.3982G>A, XM_017022736.1:c.3982G>T, XM_017022736.1:c.3982G>A, XM_011522252.2:c.3982G>T, XM_011522252.2:c.3982G>A, XM_011522252.1:c.3982G>T, XM_011522252.1:c.3982G>A, XM_011522250.2:c.3982G>T, XM_011522250.2:c.3982G>A, XM_011522250.1:c.3982G>T, XM_011522250.1:c.3982G>A, XM_017022737.2:c.3982G>T, XM_017022737.2:c.3982G>A, XM_017022737.1:c.3982G>T, XM_017022737.1:c.3982G>A, XM_011522254.2:c.3982G>T, XM_011522254.2:c.3982G>A, XM_011522254.1:c.3982G>T, XM_011522254.1:c.3982G>A, XM_017022753.2:c.3745G>T, XM_017022753.2:c.3745G>A, XM_017022753.1:c.3745G>T, XM_017022753.1:c.3745G>A, XM_017022754.2:c.3643G>T, XM_017022754.2:c.3643G>A, XM_017022754.1:c.3643G>T, XM_017022754.1:c.3643G>A, XM_017022747.2:c.3793G>T, XM_017022747.2:c.3793G>A, XM_017022747.1:c.3793G>T, XM_017022747.1:c.3793G>A, XM_011522258.2:c.3217G>T, XM_011522258.2:c.3217G>A, XM_011522258.1:c.3217G>T, XM_011522258.1:c.3217G>A, NM_001024463.2:c.3127G>T, NM_001024463.2:c.3127G>A, XM_047433378.1:c.3982G>T, XM_047433378.1:c.3982G>A, XM_047433376.1:c.3982G>T, XM_047433376.1:c.3982G>A, XM_011522249.1:c.3982G>T, XM_011522249.1:c.3982G>A, XM_047433379.1:c.3958G>T, XM_047433379.1:c.3958G>A, XM_047433377.1:c.3982G>T, XM_047433377.1:c.3982G>A, XM_047433383.1:c.3808G>T, XM_047433383.1:c.3808G>A, XM_047433382.1:c.3832G>T, XM_047433382.1:c.3832G>A, XM_047433385.1:c.3769G>T, XM_047433385.1:c.3769G>A, XM_047433386.1:c.3745G>T, XM_047433386.1:c.3745G>A, XM_047433380.1:c.3919G>T, XM_047433380.1:c.3919G>A, XM_005254804.1:c.3769G>T, XM_005254804.1:c.3769G>A, XM_047433381.1:c.3832G>T, XM_047433381.1:c.3832G>A, XM_047433384.1:c.3808G>T, XM_047433384.1:c.3808G>A, XM_047433389.1:c.3643G>T, XM_047433389.1:c.3643G>A, XM_047433387.1:c.3745G>T, XM_047433387.1:c.3745G>A, XM_047433388.1:c.3643G>T, XM_047433388.1:c.3643G>A, XM_047433390.1:c.3619G>T, XM_047433390.1:c.3619G>A, NM_001024463.1:c.3127G>T, NM_001024463.1:c.3127G>A, NP_055474.3:p.Val1257Phe, NP_055474.3:p.Val1257Ile, NP_001124330.1:p.Val1282Phe, NP_001124330.1:p.Val1282Ile, NP_001341311.1:p.Val1278Phe, NP_001341311.1:p.Val1278Ile, NP_001124331.1:p.Val1257Phe, NP_001124331.1:p.Val1257Ile, NP_001341330.1:p.Val614Phe, NP_001341330.1:p.Val614Ile, NP_001341331.1:p.Val585Phe, NP_001341331.1:p.Val585Ile, NP_001341312.1:p.Val1278Phe, NP_001341312.1:p.Val1278Ile, NP_001341314.1:p.Val1278Phe, NP_001341314.1:p.Val1278Ile, NP_001341321.1:p.Val1257Phe, NP_001341321.1:p.Val1257Ile, NP_001341315.1:p.Val1278Phe, NP_001341315.1:p.Val1278Ile, NP_001341316.1:p.Val1270Phe, NP_001341316.1:p.Val1270Ile, NP_001341317.1:p.Val1270Phe, NP_001341317.1:p.Val1270Ile, NP_001341313.1:p.Val1278Phe, NP_001341313.1:p.Val1278Ile, NP_001341318.1:p.Val1270Phe, NP_001341318.1:p.Val1270Ile, NP_001341329.1:p.Val1002Phe, NP_001341329.1:p.Val1002Ile, NP_001341328.1:p.Val1002Phe, NP_001341328.1:p.Val1002Ile, NP_001177143.1:p.Val1255Phe, NP_001177143.1:p.Val1255Ile, NP_001341322.1:p.Val1249Phe, NP_001341322.1:p.Val1249Ile, NP_001341319.1:p.Val1257Phe, NP_001341319.1:p.Val1257Ile, NP_001341327.1:p.Val1002Phe, NP_001341327.1:p.Val1002Ile, NP_001341323.1:p.Val1229Phe, NP_001341323.1:p.Val1229Ile, NP_001341320.1:p.Val1257Phe, NP_001341320.1:p.Val1257Ile, NP_001341326.1:p.Val1215Phe, NP_001341326.1:p.Val1215Ile, NP_001341324.1:p.Val1215Phe, NP_001341324.1:p.Val1215Ile, NP_001341325.1:p.Val1215Phe, NP_001341325.1:p.Val1215Ile, NP_001381324.1:p.Val1339Phe, NP_001381324.1:p.Val1339Ile, NP_001380899.1:p.Val1307Phe, NP_001380899.1:p.Val1307Ile, NP_001380898.1:p.Val1307Phe, NP_001380898.1:p.Val1307Ile, NP_001380900.1:p.Val1299Phe, NP_001380900.1:p.Val1299Ile, XP_006720849.1:p.Val1215Phe, XP_006720849.1:p.Val1215Ile, XP_016878225.1:p.Val1328Phe, XP_016878225.1:p.Val1328Ile, XP_011520554.1:p.Val1328Phe, XP_011520554.1:p.Val1328Ile, XP_011520552.1:p.Val1328Phe, XP_011520552.1:p.Val1328Ile, XP_016878226.1:p.Val1328Phe, XP_016878226.1:p.Val1328Ile, XP_011520556.1:p.Val1328Phe, XP_011520556.1:p.Val1328Ile, XP_016878242.1:p.Val1249Phe, XP_016878242.1:p.Val1249Ile, XP_016878243.1:p.Val1215Phe, XP_016878243.1:p.Val1215Ile, XP_016878236.1:p.Val1265Phe, XP_016878236.1:p.Val1265Ile, XP_011520560.1:p.Val1073Phe, XP_011520560.1:p.Val1073Ile, XP_047289334.1:p.Val1328Phe, XP_047289334.1:p.Val1328Ile, XP_047289332.1:p.Val1328Phe, XP_047289332.1:p.Val1328Ile, XP_011520551.1:p.Val1328Phe, XP_011520551.1:p.Val1328Ile, XP_047289335.1:p.Val1320Phe, XP_047289335.1:p.Val1320Ile, XP_047289333.1:p.Val1328Phe, XP_047289333.1:p.Val1328Ile, XP_047289339.1:p.Val1270Phe, XP_047289339.1:p.Val1270Ile, XP_047289338.1:p.Val1278Phe, XP_047289338.1:p.Val1278Ile, XP_047289341.1:p.Val1257Phe, XP_047289341.1:p.Val1257Ile, XP_047289342.1:p.Val1249Phe, XP_047289342.1:p.Val1249Ile, XP_047289336.1:p.Val1307Phe, XP_047289336.1:p.Val1307Ile, XP_005254861.1:p.Val1257Phe, XP_005254861.1:p.Val1257Ile, XP_047289337.1:p.Val1278Phe, XP_047289337.1:p.Val1278Ile, XP_047289340.1:p.Val1270Phe, XP_047289340.1:p.Val1270Ile, XP_047289345.1:p.Val1215Phe, XP_047289345.1:p.Val1215Ile, XP_047289343.1:p.Val1249Phe, XP_047289343.1:p.Val1249Ile, XP_047289344.1:p.Val1215Phe, XP_047289344.1:p.Val1215Ile, XP_047289346.1:p.Val1207Phe, XP_047289346.1:p.Val1207Ile

                                        20.

                                        rs1460287290 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,T [Show Flanks]
                                          Chromosome:
                                          15:43558837 (GRCh38)
                                          15:43851035 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:43558836:C:A,NC_000015.10:43558836:C:T
                                          Gene:
                                          PPIP5K1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000015.10:g.43558837C>A, NC_000015.10:g.43558837C>T, NC_000015.9:g.43851035C>A, NC_000015.9:g.43851035C>T, NG_022929.1:g.36417G>T, NG_022929.1:g.36417G>A, NM_014659.6:c.3268G>T, NM_014659.6:c.3268G>A, NM_014659.5:c.3268G>T, NM_014659.5:c.3268G>A, NM_001130858.4:c.3343G>T, NM_001130858.4:c.3343G>A, NM_001130858.3:c.3343G>T, NM_001130858.3:c.3343G>A, NM_001130858.2:c.3343G>T, NM_001130858.2:c.3343G>A, NM_001354382.3:c.3331G>T, NM_001354382.3:c.3331G>A, NM_001354382.2:c.3331G>T, NM_001354382.2:c.3331G>A, NM_001354382.1:c.3331G>T, NM_001354382.1:c.3331G>A, NM_001130859.3:c.3268G>T, NM_001130859.3:c.3268G>A, NM_001130859.2:c.3268G>T, NM_001130859.2:c.3268G>A, NM_001354401.2:c.1339G>T, NM_001354401.2:c.1339G>A, NM_001354401.1:c.1339G>T, NM_001354401.1:c.1339G>A, NM_001354402.2:c.1252G>T, NM_001354402.2:c.1252G>A, NM_001354402.1:c.1252G>T, NM_001354402.1:c.1252G>A, NM_001354383.2:c.3331G>T, NM_001354383.2:c.3331G>A, NM_001354383.1:c.3331G>T, NM_001354383.1:c.3331G>A, NM_001354385.2:c.3331G>T, NM_001354385.2:c.3331G>A, NM_001354385.1:c.3331G>T, NM_001354385.1:c.3331G>A, NM_001354392.2:c.3268G>T, NM_001354392.2:c.3268G>A, NM_001354392.1:c.3268G>T, NM_001354392.1:c.3268G>A, NM_001354386.2:c.3331G>T, NM_001354386.2:c.3331G>A, NM_001354386.1:c.3331G>T, NM_001354386.1:c.3331G>A, NM_001354387.2:c.3307G>T, NM_001354387.2:c.3307G>A, NM_001354387.1:c.3307G>T, NM_001354387.1:c.3307G>A, NM_001354388.2:c.3307G>T, NM_001354388.2:c.3307G>A, NM_001354388.1:c.3307G>T, NM_001354388.1:c.3307G>A, NM_001354384.2:c.3331G>T, NM_001354384.2:c.3331G>A, NM_001354384.1:c.3331G>T, NM_001354384.1:c.3331G>A, NM_001354389.2:c.3307G>T, NM_001354389.2:c.3307G>A, NM_001354389.1:c.3307G>T, NM_001354389.1:c.3307G>A, NM_001354400.2:c.2503G>T, NM_001354400.2:c.2503G>A, NM_001354400.1:c.2503G>T, NM_001354400.1:c.2503G>A, NM_001354399.2:c.2503G>T, NM_001354399.2:c.2503G>A, NM_001354399.1:c.2503G>T, NM_001354399.1:c.2503G>A, NM_001190214.2:c.3142G>T, NM_001190214.2:c.3142G>A, NM_001190214.1:c.3142G>T, NM_001190214.1:c.3142G>A, NM_001354393.2:c.3244G>T, NM_001354393.2:c.3244G>A, NM_001354393.1:c.3244G>T, NM_001354393.1:c.3244G>A, NM_001354390.2:c.3268G>T, NM_001354390.2:c.3268G>A, NM_001354390.1:c.3268G>T, NM_001354390.1:c.3268G>A, NM_001354398.2:c.2503G>T, NM_001354398.2:c.2503G>A, NM_001354398.1:c.2503G>T, NM_001354398.1:c.2503G>A, NM_001354394.2:c.3184G>T, NM_001354394.2:c.3184G>A, NM_001354394.1:c.3184G>T, NM_001354394.1:c.3184G>A, NM_001354391.2:c.3268G>T, NM_001354391.2:c.3268G>A, NM_001354391.1:c.3268G>T, NM_001354391.1:c.3268G>A, NM_001354397.2:c.3142G>T, NM_001354397.2:c.3142G>A, NM_001354397.1:c.3142G>T, NM_001354397.1:c.3142G>A, NM_001354395.2:c.3142G>T, NM_001354395.2:c.3142G>A, NM_001354395.1:c.3142G>T, NM_001354395.1:c.3142G>A, NM_001354396.2:c.3142G>T, NM_001354396.2:c.3142G>A, NM_001354396.1:c.3142G>T, NM_001354396.1:c.3142G>A, NM_001394395.1:c.3514G>T, NM_001394395.1:c.3514G>A, NM_001393970.1:c.3418G>T, NM_001393970.1:c.3418G>A, NM_001393969.1:c.3418G>T, NM_001393969.1:c.3418G>A, NM_001393971.1:c.3394G>T, NM_001393971.1:c.3394G>A, XM_006720786.3:c.3142G>T, XM_006720786.3:c.3142G>A, XM_006720786.2:c.3142G>T, XM_006720786.2:c.3142G>A, XM_006720786.1:c.3142G>T, XM_006720786.1:c.3142G>A, XM_017022736.2:c.3481G>T, XM_017022736.2:c.3481G>A, XM_017022736.1:c.3481G>T, XM_017022736.1:c.3481G>A, XM_011522252.2:c.3481G>T, XM_011522252.2:c.3481G>A, XM_011522252.1:c.3481G>T, XM_011522252.1:c.3481G>A, XM_011522250.2:c.3481G>T, XM_011522250.2:c.3481G>A, XM_011522250.1:c.3481G>T, XM_011522250.1:c.3481G>A, XM_017022737.2:c.3481G>T, XM_017022737.2:c.3481G>A, XM_017022737.1:c.3481G>T, XM_017022737.1:c.3481G>A, XM_011522254.2:c.3481G>T, XM_011522254.2:c.3481G>A, XM_011522254.1:c.3481G>T, XM_011522254.1:c.3481G>A, XM_017022753.2:c.3244G>T, XM_017022753.2:c.3244G>A, XM_017022753.1:c.3244G>T, XM_017022753.1:c.3244G>A, XM_017022754.2:c.3142G>T, XM_017022754.2:c.3142G>A, XM_017022754.1:c.3142G>T, XM_017022754.1:c.3142G>A, XM_017022747.2:c.3292G>T, XM_017022747.2:c.3292G>A, XM_017022747.1:c.3292G>T, XM_017022747.1:c.3292G>A, XM_011522258.2:c.2716G>T, XM_011522258.2:c.2716G>A, XM_011522258.1:c.2716G>T, XM_011522258.1:c.2716G>A, XM_047433378.1:c.3481G>T, XM_047433378.1:c.3481G>A, XM_047433376.1:c.3481G>T, XM_047433376.1:c.3481G>A, XM_011522249.1:c.3481G>T, XM_011522249.1:c.3481G>A, XM_047433379.1:c.3457G>T, XM_047433379.1:c.3457G>A, XM_047433377.1:c.3481G>T, XM_047433377.1:c.3481G>A, XM_047433383.1:c.3307G>T, XM_047433383.1:c.3307G>A, XM_047433382.1:c.3331G>T, XM_047433382.1:c.3331G>A, XM_047433385.1:c.3268G>T, XM_047433385.1:c.3268G>A, XM_047433386.1:c.3244G>T, XM_047433386.1:c.3244G>A, XM_047433380.1:c.3418G>T, XM_047433380.1:c.3418G>A, XM_005254804.1:c.3268G>T, XM_005254804.1:c.3268G>A, XM_047433381.1:c.3331G>T, XM_047433381.1:c.3331G>A, XM_047433384.1:c.3307G>T, XM_047433384.1:c.3307G>A, XM_047433389.1:c.3142G>T, XM_047433389.1:c.3142G>A, XM_047433387.1:c.3244G>T, XM_047433387.1:c.3244G>A, XM_047433388.1:c.3142G>T, XM_047433388.1:c.3142G>A, XM_047433390.1:c.3118G>T, XM_047433390.1:c.3118G>A, NP_055474.3:p.Val1090Phe, NP_055474.3:p.Val1090Ile, NP_001124330.1:p.Val1115Phe, NP_001124330.1:p.Val1115Ile, NP_001341311.1:p.Val1111Phe, NP_001341311.1:p.Val1111Ile, NP_001124331.1:p.Val1090Phe, NP_001124331.1:p.Val1090Ile, NP_001341330.1:p.Val447Phe, NP_001341330.1:p.Val447Ile, NP_001341331.1:p.Val418Phe, NP_001341331.1:p.Val418Ile, NP_001341312.1:p.Val1111Phe, NP_001341312.1:p.Val1111Ile, NP_001341314.1:p.Val1111Phe, NP_001341314.1:p.Val1111Ile, NP_001341321.1:p.Val1090Phe, NP_001341321.1:p.Val1090Ile, NP_001341315.1:p.Val1111Phe, NP_001341315.1:p.Val1111Ile, NP_001341316.1:p.Val1103Phe, NP_001341316.1:p.Val1103Ile, NP_001341317.1:p.Val1103Phe, NP_001341317.1:p.Val1103Ile, NP_001341313.1:p.Val1111Phe, NP_001341313.1:p.Val1111Ile, NP_001341318.1:p.Val1103Phe, NP_001341318.1:p.Val1103Ile, NP_001341329.1:p.Val835Phe, NP_001341329.1:p.Val835Ile, NP_001341328.1:p.Val835Phe, NP_001341328.1:p.Val835Ile, NP_001177143.1:p.Val1048Phe, NP_001177143.1:p.Val1048Ile, NP_001341322.1:p.Val1082Phe, NP_001341322.1:p.Val1082Ile, NP_001341319.1:p.Val1090Phe, NP_001341319.1:p.Val1090Ile, NP_001341327.1:p.Val835Phe, NP_001341327.1:p.Val835Ile, NP_001341323.1:p.Val1062Phe, NP_001341323.1:p.Val1062Ile, NP_001341320.1:p.Val1090Phe, NP_001341320.1:p.Val1090Ile, NP_001341326.1:p.Val1048Phe, NP_001341326.1:p.Val1048Ile, NP_001341324.1:p.Val1048Phe, NP_001341324.1:p.Val1048Ile, NP_001341325.1:p.Val1048Phe, NP_001341325.1:p.Val1048Ile, NP_001381324.1:p.Val1172Phe, NP_001381324.1:p.Val1172Ile, NP_001380899.1:p.Val1140Phe, NP_001380899.1:p.Val1140Ile, NP_001380898.1:p.Val1140Phe, NP_001380898.1:p.Val1140Ile, NP_001380900.1:p.Val1132Phe, NP_001380900.1:p.Val1132Ile, XP_006720849.1:p.Val1048Phe, XP_006720849.1:p.Val1048Ile, XP_016878225.1:p.Val1161Phe, XP_016878225.1:p.Val1161Ile, XP_011520554.1:p.Val1161Phe, XP_011520554.1:p.Val1161Ile, XP_011520552.1:p.Val1161Phe, XP_011520552.1:p.Val1161Ile, XP_016878226.1:p.Val1161Phe, XP_016878226.1:p.Val1161Ile, XP_011520556.1:p.Val1161Phe, XP_011520556.1:p.Val1161Ile, XP_016878242.1:p.Val1082Phe, XP_016878242.1:p.Val1082Ile, XP_016878243.1:p.Val1048Phe, XP_016878243.1:p.Val1048Ile, XP_016878236.1:p.Val1098Phe, XP_016878236.1:p.Val1098Ile, XP_011520560.1:p.Val906Phe, XP_011520560.1:p.Val906Ile, XP_047289334.1:p.Val1161Phe, XP_047289334.1:p.Val1161Ile, XP_047289332.1:p.Val1161Phe, XP_047289332.1:p.Val1161Ile, XP_011520551.1:p.Val1161Phe, XP_011520551.1:p.Val1161Ile, XP_047289335.1:p.Val1153Phe, XP_047289335.1:p.Val1153Ile, XP_047289333.1:p.Val1161Phe, XP_047289333.1:p.Val1161Ile, XP_047289339.1:p.Val1103Phe, XP_047289339.1:p.Val1103Ile, XP_047289338.1:p.Val1111Phe, XP_047289338.1:p.Val1111Ile, XP_047289341.1:p.Val1090Phe, XP_047289341.1:p.Val1090Ile, XP_047289342.1:p.Val1082Phe, XP_047289342.1:p.Val1082Ile, XP_047289336.1:p.Val1140Phe, XP_047289336.1:p.Val1140Ile, XP_005254861.1:p.Val1090Phe, XP_005254861.1:p.Val1090Ile, XP_047289337.1:p.Val1111Phe, XP_047289337.1:p.Val1111Ile, XP_047289340.1:p.Val1103Phe, XP_047289340.1:p.Val1103Ile, XP_047289345.1:p.Val1048Phe, XP_047289345.1:p.Val1048Ile, XP_047289343.1:p.Val1082Phe, XP_047289343.1:p.Val1082Ile, XP_047289344.1:p.Val1048Phe, XP_047289344.1:p.Val1048Ile, XP_047289346.1:p.Val1040Phe, XP_047289346.1:p.Val1040Ile

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