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Items: 1 to 20 of 681

1.

rs1490810858 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    5:103159282 (GRCh38)
    5:102494986 (GRCh37)
    Canonical SPDI:
    NC_000005.10:103159281:A:T
    Gene:
    PPIP5K2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_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_000005.10:g.103159282A>T, NC_000005.9:g.102494986A>T, NG_051568.1:g.44035A>T, NM_015216.5:c.1874A>T, NM_015216.4:c.1874A>T, NM_015216.3:c.1874A>T, NM_001281471.3:c.1874A>T, NM_001281471.2:c.1874A>T, NM_001281471.1:c.1874A>T, NM_001276277.3:c.1874A>T, NM_001276277.2:c.1874A>T, NM_001276277.1:c.1874A>T, NM_001345873.2:c.1871A>T, NM_001345873.1:c.1871A>T, NM_001345872.2:c.1874A>T, NM_001345872.1:c.1874A>T, NM_001345871.2:c.1874A>T, NM_001345871.1:c.1874A>T, NM_001345876.2:c.1874A>T, NM_001345876.1:c.1874A>T, NM_001345878.2:c.1871A>T, NM_001345878.1:c.1871A>T, NM_001345874.2:c.1874A>T, NM_001345874.1:c.1874A>T, NM_001345875.2:c.1874A>T, NM_001345875.1:c.1874A>T, NM_001345877.2:c.1871A>T, NM_001345877.1:c.1871A>T, NW_003871061.1:g.74149A>T, XM_011543290.4:c.1874A>T, XM_011543290.3:c.1874A>T, XM_011543290.2:c.1874A>T, XM_011543290.1:c.1874A>T, XM_005277534.3:c.1874A>T, XM_005277534.2:c.1874A>T, XM_005277534.1:c.1874A>T, XM_005277535.3:c.1871A>T, XM_005277535.2:c.1871A>T, XM_005277535.1:c.1871A>T, XM_005277536.3:c.1874A>T, XM_005277536.2:c.1874A>T, XM_005277536.1:c.1874A>T, XM_006714576.3:c.1874A>T, XM_006714576.2:c.1874A>T, XM_006714576.1:c.1874A>T, XM_005277539.3:c.1874A>T, XM_005277539.2:c.1874A>T, XM_005277539.1:c.1874A>T, XM_017009273.3:c.1871A>T, XM_017009273.2:c.1871A>T, XM_017009273.1:c.1871A>T, XM_006714577.3:c.1874A>T, XM_006714577.2:c.1874A>T, XM_006714577.1:c.1874A>T, XM_017009274.3:c.1874A>T, XM_017009274.2:c.1874A>T, XM_017009274.1:c.1874A>T, XM_005277541.3:c.1874A>T, XM_005277541.2:c.1874A>T, XM_005277541.1:c.1874A>T, XM_047417006.1:c.1871A>T, XM_047417007.1:c.1874A>T, XM_047417008.1:c.1871A>T, XM_047417009.1:c.1871A>T, XM_047417010.1:c.1871A>T, XM_047417011.1:c.1874A>T, XM_047417012.1:c.1871A>T, XM_047417013.1:c.1871A>T, XM_047417014.1:c.1871A>T, NR_074081.1:n.2393A>T, NP_056031.2:p.Glu625Val, NP_001268400.1:p.Glu625Val, NP_001263206.1:p.Glu625Val, NP_001332802.1:p.Glu624Val, NP_001332801.1:p.Glu625Val, NP_001332800.1:p.Glu625Val, NP_001332805.1:p.Glu625Val, NP_001332807.1:p.Glu624Val, NP_001332803.1:p.Glu625Val, NP_001332804.1:p.Glu625Val, NP_001332806.1:p.Glu624Val, XP_011541592.1:p.Glu625Val, XP_005277591.1:p.Glu625Val, XP_005277592.1:p.Glu624Val, XP_005277593.1:p.Glu625Val, XP_006714639.1:p.Glu625Val, XP_005277596.1:p.Glu625Val, XP_016864762.1:p.Glu624Val, XP_006714640.1:p.Glu625Val, XP_016864763.1:p.Glu625Val, XP_005277598.1:p.Glu625Val, XP_047272962.1:p.Glu624Val, XP_047272963.1:p.Glu625Val, XP_047272964.1:p.Glu624Val, XP_047272965.1:p.Glu624Val, XP_047272966.1:p.Glu624Val, XP_047272967.1:p.Glu625Val, XP_047272968.1:p.Glu624Val, XP_047272969.1:p.Glu624Val, XP_047272970.1:p.Glu624Val

    2.

    rs1486060302 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AGG>- [Show Flanks]
      Chromosome:
      5:103155992 (GRCh38)
      5:102491696 (GRCh37)
      Canonical SPDI:
      NC_000005.10:103155987:GAGGAGG:GAGG
      Gene:
      PPIP5K2 (Varview)
      Functional Consequence:
      coding_sequence_variant,inframe_deletion
      Validated:
      by frequency,by alfa
      MAF:
      GAGG=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000005.10:g.103155989AGG[1], NC_000005.9:g.102491693AGG[1], NG_051568.1:g.40742AGG[1], NM_015216.5:c.1485GGA[1], NM_015216.4:c.1485GGA[1], NM_015216.3:c.1485GGA[1], NM_001281471.3:c.1485GGA[1], NM_001281471.2:c.1485GGA[1], NM_001281471.1:c.1485GGA[1], NM_001276277.3:c.1485GGA[1], NM_001276277.2:c.1485GGA[1], NM_001276277.1:c.1485GGA[1], NM_001345873.2:c.1485GGA[1], NM_001345873.1:c.1485GGA[1], NM_001345872.2:c.1485GGA[1], NM_001345872.1:c.1485GGA[1], NM_001345871.2:c.1485GGA[1], NM_001345871.1:c.1485GGA[1], NM_001345876.2:c.1485GGA[1], NM_001345876.1:c.1485GGA[1], NM_001345878.2:c.1485GGA[1], NM_001345878.1:c.1485GGA[1], NM_001345874.2:c.1485GGA[1], NM_001345874.1:c.1485GGA[1], NM_001345875.2:c.1485GGA[1], NM_001345875.1:c.1485GGA[1], NM_001345877.2:c.1485GGA[1], NM_001345877.1:c.1485GGA[1], NW_003871061.1:g.70856AGG[1], XM_011543290.4:c.1485GGA[1], XM_011543290.3:c.1485GGA[1], XM_011543290.2:c.1485GGA[1], XM_011543290.1:c.1485GGA[1], XM_005277534.3:c.1485GGA[1], XM_005277534.2:c.1485GGA[1], XM_005277534.1:c.1485GGA[1], XM_005277535.3:c.1485GGA[1], XM_005277535.2:c.1485GGA[1], XM_005277535.1:c.1485GGA[1], XM_005277536.3:c.1485GGA[1], XM_005277536.2:c.1485GGA[1], XM_005277536.1:c.1485GGA[1], XM_006714576.3:c.1485GGA[1], XM_006714576.2:c.1485GGA[1], XM_006714576.1:c.1485GGA[1], XM_005277539.3:c.1485GGA[1], XM_005277539.2:c.1485GGA[1], XM_005277539.1:c.1485GGA[1], XM_017009273.3:c.1485GGA[1], XM_017009273.2:c.1485GGA[1], XM_017009273.1:c.1485GGA[1], XM_006714577.3:c.1485GGA[1], XM_006714577.2:c.1485GGA[1], XM_006714577.1:c.1485GGA[1], XM_017009274.3:c.1485GGA[1], XM_017009274.2:c.1485GGA[1], XM_017009274.1:c.1485GGA[1], XM_005277541.3:c.1485GGA[1], XM_005277541.2:c.1485GGA[1], XM_005277541.1:c.1485GGA[1], XM_047417006.1:c.1485GGA[1], XM_047417007.1:c.1485GGA[1], XM_047417008.1:c.1485GGA[1], XM_047417009.1:c.1485GGA[1], XM_047417010.1:c.1485GGA[1], XM_047417011.1:c.1485GGA[1], XM_047417012.1:c.1485GGA[1], XM_047417013.1:c.1485GGA[1], XM_047417014.1:c.1485GGA[1], NR_074081.1:n.2004GGA[1], NP_056031.2:p.Glu496del, NP_001268400.1:p.Glu496del, NP_001263206.1:p.Glu496del, NP_001332802.1:p.Glu496del, NP_001332801.1:p.Glu496del, NP_001332800.1:p.Glu496del, NP_001332805.1:p.Glu496del, NP_001332807.1:p.Glu496del, NP_001332803.1:p.Glu496del, NP_001332804.1:p.Glu496del, NP_001332806.1:p.Glu496del, XP_011541592.1:p.Glu496del, XP_005277591.1:p.Glu496del, XP_005277592.1:p.Glu496del, XP_005277593.1:p.Glu496del, XP_006714639.1:p.Glu496del, XP_005277596.1:p.Glu496del, XP_016864762.1:p.Glu496del, XP_006714640.1:p.Glu496del, XP_016864763.1:p.Glu496del, XP_005277598.1:p.Glu496del, XP_047272962.1:p.Glu496del, XP_047272963.1:p.Glu496del, XP_047272964.1:p.Glu496del, XP_047272965.1:p.Glu496del, XP_047272966.1:p.Glu496del, XP_047272967.1:p.Glu496del, XP_047272968.1:p.Glu496del, XP_047272969.1:p.Glu496del, XP_047272970.1:p.Glu496del

      3.

      rs1483094017 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        5:103154911 (GRCh38)
        5:102490615 (GRCh37)
        Canonical SPDI:
        NC_000005.10:103154910:A:G
        Gene:
        PPIP5K2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000005.10:g.103154911A>G, NC_000005.9:g.102490615A>G, NG_051568.1:g.39664A>G, NM_015216.5:c.1371A>G, NM_015216.4:c.1371A>G, NM_015216.3:c.1371A>G, NM_001281471.3:c.1371A>G, NM_001281471.2:c.1371A>G, NM_001281471.1:c.1371A>G, NM_001276277.3:c.1371A>G, NM_001276277.2:c.1371A>G, NM_001276277.1:c.1371A>G, NM_001345873.2:c.1371A>G, NM_001345873.1:c.1371A>G, NM_001345872.2:c.1371A>G, NM_001345872.1:c.1371A>G, NM_001345871.2:c.1371A>G, NM_001345871.1:c.1371A>G, NM_001345876.2:c.1371A>G, NM_001345876.1:c.1371A>G, NM_001345878.2:c.1371A>G, NM_001345878.1:c.1371A>G, NM_001345874.2:c.1371A>G, NM_001345874.1:c.1371A>G, NM_001345875.2:c.1371A>G, NM_001345875.1:c.1371A>G, NM_001345877.2:c.1371A>G, NM_001345877.1:c.1371A>G, NW_003871061.1:g.69778A>G, XM_011543290.4:c.1371A>G, XM_011543290.3:c.1371A>G, XM_011543290.2:c.1371A>G, XM_011543290.1:c.1371A>G, XM_005277534.3:c.1371A>G, XM_005277534.2:c.1371A>G, XM_005277534.1:c.1371A>G, XM_005277535.3:c.1371A>G, XM_005277535.2:c.1371A>G, XM_005277535.1:c.1371A>G, XM_005277536.3:c.1371A>G, XM_005277536.2:c.1371A>G, XM_005277536.1:c.1371A>G, XM_006714576.3:c.1371A>G, XM_006714576.2:c.1371A>G, XM_006714576.1:c.1371A>G, XM_005277539.3:c.1371A>G, XM_005277539.2:c.1371A>G, XM_005277539.1:c.1371A>G, XM_017009273.3:c.1371A>G, XM_017009273.2:c.1371A>G, XM_017009273.1:c.1371A>G, XM_006714577.3:c.1371A>G, XM_006714577.2:c.1371A>G, XM_006714577.1:c.1371A>G, XM_017009274.3:c.1371A>G, XM_017009274.2:c.1371A>G, XM_017009274.1:c.1371A>G, XM_005277541.3:c.1371A>G, XM_005277541.2:c.1371A>G, XM_005277541.1:c.1371A>G, XM_047417006.1:c.1371A>G, XM_047417007.1:c.1371A>G, XM_047417008.1:c.1371A>G, XM_047417009.1:c.1371A>G, XM_047417010.1:c.1371A>G, XM_047417011.1:c.1371A>G, XM_047417012.1:c.1371A>G, XM_047417013.1:c.1371A>G, XM_047417014.1:c.1371A>G, NR_074081.1:n.1890A>G

        4.

        rs1481095082 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          5:103194957 (GRCh38)
          5:102530658 (GRCh37)
          Canonical SPDI:
          NC_000005.10:103194956:A:G
          Gene:
          PPIP5K2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000011/3 (TOPMED)
          G=0.000021/3 (GnomAD)
          HGVS:
          NC_000005.10:g.103194957A>G, NC_000005.9:g.102530658A>G, NG_051568.1:g.79710A>G, NM_015216.5:c.3488A>G, NM_015216.4:c.3488A>G, NM_015216.3:c.3488A>G, NM_001281471.3:c.3656A>G, NM_001281471.2:c.3656A>G, NM_001281471.1:c.3656A>G, NM_001276277.3:c.3551A>G, NM_001276277.2:c.3551A>G, NM_001276277.1:c.3551A>G, NM_001345873.2:c.3548A>G, NM_001345873.1:c.3548A>G, NM_001345872.2:c.3422A>G, NM_001345872.1:c.3422A>G, NM_001345871.2:c.3377A>G, NM_001345871.1:c.3377A>G, NM_001345876.2:c.3368A>G, NM_001345876.1:c.3368A>G, NM_001345878.2:c.3365A>G, NM_001345878.1:c.3365A>G, NM_001345874.2:c.3314A>G, NM_001345874.1:c.3314A>G, NM_001345875.2:c.3194A>G, NM_001345875.1:c.3194A>G, NM_001345877.2:c.3191A>G, NM_001345877.1:c.3191A>G, NW_003871061.1:g.109824A>G, XM_005277534.3:c.3596A>G, XM_005277534.2:c.3596A>G, XM_005277534.1:c.3596A>G, XM_005277535.3:c.3593A>G, XM_005277535.2:c.3593A>G, XM_005277535.1:c.3593A>G, XM_005277536.3:c.3533A>G, XM_005277536.2:c.3533A>G, XM_005277536.1:c.3533A>G, XM_006714576.3:c.3476A>G, XM_006714576.2:c.3476A>G, XM_006714576.1:c.3476A>G, XM_005277539.3:c.3413A>G, XM_005277539.2:c.3413A>G, XM_005277539.1:c.3413A>G, XM_017009273.3:c.3311A>G, XM_017009273.2:c.3311A>G, XM_017009273.1:c.3311A>G, XM_006714577.3:c.3302A>G, XM_006714577.2:c.3302A>G, XM_006714577.1:c.3302A>G, XM_017009274.3:c.3257A>G, XM_017009274.2:c.3257A>G, XM_017009274.1:c.3257A>G, XM_005277541.3:c.3239A>G, XM_005277541.2:c.3239A>G, XM_005277541.1:c.3239A>G, XM_047417006.1:c.3485A>G, XM_047417007.1:c.3431A>G, XM_047417008.1:c.3419A>G, XM_047417009.1:c.3410A>G, XM_047417010.1:c.3374A>G, XM_047417011.1:c.3359A>G, XM_047417012.1:c.3356A>G, XM_047417013.1:c.3254A>G, XM_047417014.1:c.3236A>G, NR_074081.1:n.4174A>G, NP_056031.2:p.Tyr1163Cys, NP_001268400.1:p.Tyr1219Cys, NP_001263206.1:p.Tyr1184Cys, NP_001332802.1:p.Tyr1183Cys, NP_001332801.1:p.Tyr1141Cys, NP_001332800.1:p.Tyr1126Cys, NP_001332805.1:p.Tyr1123Cys, NP_001332807.1:p.Tyr1122Cys, NP_001332803.1:p.Tyr1105Cys, NP_001332804.1:p.Tyr1065Cys, NP_001332806.1:p.Tyr1064Cys, XP_005277591.1:p.Tyr1199Cys, XP_005277592.1:p.Tyr1198Cys, XP_005277593.1:p.Tyr1178Cys, XP_006714639.1:p.Tyr1159Cys, XP_005277596.1:p.Tyr1138Cys, XP_016864762.1:p.Tyr1104Cys, XP_006714640.1:p.Tyr1101Cys, XP_016864763.1:p.Tyr1086Cys, XP_005277598.1:p.Tyr1080Cys, XP_047272962.1:p.Tyr1162Cys, XP_047272963.1:p.Tyr1144Cys, XP_047272964.1:p.Tyr1140Cys, XP_047272965.1:p.Tyr1137Cys, XP_047272966.1:p.Tyr1125Cys, XP_047272967.1:p.Tyr1120Cys, XP_047272968.1:p.Tyr1119Cys, XP_047272969.1:p.Tyr1085Cys, XP_047272970.1:p.Tyr1079Cys

          5.

          rs1480989269 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            5:103173260 (GRCh38)
            5:102508964 (GRCh37)
            Canonical SPDI:
            NC_000005.10:103173259:A:G
            Gene:
            PPIP5K2 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000005.10:g.103173260A>G, NC_000005.9:g.102508964A>G, NG_051568.1:g.58013A>G, NM_015216.5:c.2392A>G, NM_015216.4:c.2392A>G, NM_015216.3:c.2392A>G, NM_001281471.3:c.2392A>G, NM_001281471.2:c.2392A>G, NM_001281471.1:c.2392A>G, NM_001276277.3:c.2392A>G, NM_001276277.2:c.2392A>G, NM_001276277.1:c.2392A>G, NM_001345873.2:c.2389A>G, NM_001345873.1:c.2389A>G, NM_001345872.2:c.2392A>G, NM_001345872.1:c.2392A>G, NM_001345871.2:c.2392A>G, NM_001345871.1:c.2392A>G, NM_001345876.2:c.2392A>G, NM_001345876.1:c.2392A>G, NM_001345878.2:c.2389A>G, NM_001345878.1:c.2389A>G, NM_001345874.2:c.2392A>G, NM_001345874.1:c.2392A>G, NM_001345875.2:c.2392A>G, NM_001345875.1:c.2392A>G, NM_001345877.2:c.2389A>G, NM_001345877.1:c.2389A>G, NW_003871061.1:g.88127A>G, XM_011543290.4:c.2392A>G, XM_011543290.3:c.2392A>G, XM_011543290.2:c.2392A>G, XM_011543290.1:c.2392A>G, XM_005277534.3:c.2392A>G, XM_005277534.2:c.2392A>G, XM_005277534.1:c.2392A>G, XM_005277535.3:c.2389A>G, XM_005277535.2:c.2389A>G, XM_005277535.1:c.2389A>G, XM_005277536.3:c.2392A>G, XM_005277536.2:c.2392A>G, XM_005277536.1:c.2392A>G, XM_006714576.3:c.2392A>G, XM_006714576.2:c.2392A>G, XM_006714576.1:c.2392A>G, XM_005277539.3:c.2392A>G, XM_005277539.2:c.2392A>G, XM_005277539.1:c.2392A>G, XM_017009273.3:c.2389A>G, XM_017009273.2:c.2389A>G, XM_017009273.1:c.2389A>G, XM_006714577.3:c.2392A>G, XM_006714577.2:c.2392A>G, XM_006714577.1:c.2392A>G, XM_017009274.3:c.2392A>G, XM_017009274.2:c.2392A>G, XM_017009274.1:c.2392A>G, XM_005277541.3:c.2392A>G, XM_005277541.2:c.2392A>G, XM_005277541.1:c.2392A>G, XM_047417006.1:c.2389A>G, XM_047417007.1:c.2392A>G, XM_047417008.1:c.2389A>G, XM_047417009.1:c.2389A>G, XM_047417010.1:c.2389A>G, XM_047417011.1:c.2392A>G, XM_047417012.1:c.2389A>G, XM_047417013.1:c.2389A>G, XM_047417014.1:c.2389A>G, NR_074081.1:n.2911A>G, NP_056031.2:p.Thr798Ala, NP_001268400.1:p.Thr798Ala, NP_001263206.1:p.Thr798Ala, NP_001332802.1:p.Thr797Ala, NP_001332801.1:p.Thr798Ala, NP_001332800.1:p.Thr798Ala, NP_001332805.1:p.Thr798Ala, NP_001332807.1:p.Thr797Ala, NP_001332803.1:p.Thr798Ala, NP_001332804.1:p.Thr798Ala, NP_001332806.1:p.Thr797Ala, XP_011541592.1:p.Thr798Ala, XP_005277591.1:p.Thr798Ala, XP_005277592.1:p.Thr797Ala, XP_005277593.1:p.Thr798Ala, XP_006714639.1:p.Thr798Ala, XP_005277596.1:p.Thr798Ala, XP_016864762.1:p.Thr797Ala, XP_006714640.1:p.Thr798Ala, XP_016864763.1:p.Thr798Ala, XP_005277598.1:p.Thr798Ala, XP_047272962.1:p.Thr797Ala, XP_047272963.1:p.Thr798Ala, XP_047272964.1:p.Thr797Ala, XP_047272965.1:p.Thr797Ala, XP_047272966.1:p.Thr797Ala, XP_047272967.1:p.Thr798Ala, XP_047272968.1:p.Thr797Ala, XP_047272969.1:p.Thr797Ala, XP_047272970.1:p.Thr797Ala

            6.

            rs1477106419 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              AAGGCTAC>- [Show Flanks]
              Chromosome:
              5:103173195 (GRCh38)
              5:102508899 (GRCh37)
              Canonical SPDI:
              NC_000005.10:103173194:AAGGCTAC:
              Gene:
              PPIP5K2 (Varview)
              Functional Consequence:
              coding_sequence_variant,frameshift_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000004/1 (TOPMED)
              HGVS:
              NC_000005.10:g.103173195_103173202del, NC_000005.9:g.102508899_102508906del, NG_051568.1:g.57948_57955del, NM_015216.5:c.2327_2334del, NM_015216.4:c.2327_2334del, NM_015216.3:c.2327_2334del, NM_001281471.3:c.2327_2334del, NM_001281471.2:c.2327_2334del, NM_001281471.1:c.2327_2334del, NM_001276277.3:c.2327_2334del, NM_001276277.2:c.2327_2334del, NM_001276277.1:c.2327_2334del, NM_001345873.2:c.2324_2331del, NM_001345873.1:c.2324_2331del, NM_001345872.2:c.2327_2334del, NM_001345872.1:c.2327_2334del, NM_001345871.2:c.2327_2334del, NM_001345871.1:c.2327_2334del, NM_001345876.2:c.2327_2334del, NM_001345876.1:c.2327_2334del, NM_001345878.2:c.2324_2331del, NM_001345878.1:c.2324_2331del, NM_001345874.2:c.2327_2334del, NM_001345874.1:c.2327_2334del, NM_001345875.2:c.2327_2334del, NM_001345875.1:c.2327_2334del, NM_001345877.2:c.2324_2331del, NM_001345877.1:c.2324_2331del, NW_003871061.1:g.88062_88069del, XM_011543290.4:c.2327_2334del, XM_011543290.3:c.2327_2334del, XM_011543290.2:c.2327_2334del, XM_011543290.1:c.2327_2334del, XM_005277534.3:c.2327_2334del, XM_005277534.2:c.2327_2334del, XM_005277534.1:c.2327_2334del, XM_005277535.3:c.2324_2331del, XM_005277535.2:c.2324_2331del, XM_005277535.1:c.2324_2331del, XM_005277536.3:c.2327_2334del, XM_005277536.2:c.2327_2334del, XM_005277536.1:c.2327_2334del, XM_006714576.3:c.2327_2334del, XM_006714576.2:c.2327_2334del, XM_006714576.1:c.2327_2334del, XM_005277539.3:c.2327_2334del, XM_005277539.2:c.2327_2334del, XM_005277539.1:c.2327_2334del, XM_017009273.3:c.2324_2331del, XM_017009273.2:c.2324_2331del, XM_017009273.1:c.2324_2331del, XM_006714577.3:c.2327_2334del, XM_006714577.2:c.2327_2334del, XM_006714577.1:c.2327_2334del, XM_017009274.3:c.2327_2334del, XM_017009274.2:c.2327_2334del, XM_017009274.1:c.2327_2334del, XM_005277541.3:c.2327_2334del, XM_005277541.2:c.2327_2334del, XM_005277541.1:c.2327_2334del, XM_047417006.1:c.2324_2331del, XM_047417007.1:c.2327_2334del, XM_047417008.1:c.2324_2331del, XM_047417009.1:c.2324_2331del, XM_047417010.1:c.2324_2331del, XM_047417011.1:c.2327_2334del, XM_047417012.1:c.2324_2331del, XM_047417013.1:c.2324_2331del, XM_047417014.1:c.2324_2331del, NR_074081.1:n.2846_2853del, NP_056031.2:p.Lys776fs, NP_001268400.1:p.Lys776fs, NP_001263206.1:p.Lys776fs, NP_001332802.1:p.Lys775fs, NP_001332801.1:p.Lys776fs, NP_001332800.1:p.Lys776fs, NP_001332805.1:p.Lys776fs, NP_001332807.1:p.Lys775fs, NP_001332803.1:p.Lys776fs, NP_001332804.1:p.Lys776fs, NP_001332806.1:p.Lys775fs, XP_011541592.1:p.Lys776fs, XP_005277591.1:p.Lys776fs, XP_005277592.1:p.Lys775fs, XP_005277593.1:p.Lys776fs, XP_006714639.1:p.Lys776fs, XP_005277596.1:p.Lys776fs, XP_016864762.1:p.Lys775fs, XP_006714640.1:p.Lys776fs, XP_016864763.1:p.Lys776fs, XP_005277598.1:p.Lys776fs, XP_047272962.1:p.Lys775fs, XP_047272963.1:p.Lys776fs, XP_047272964.1:p.Lys775fs, XP_047272965.1:p.Lys775fs, XP_047272966.1:p.Lys775fs, XP_047272967.1:p.Lys776fs, XP_047272968.1:p.Lys775fs, XP_047272969.1:p.Lys775fs, XP_047272970.1:p.Lys775fs

              7.

              rs1472908507 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                5:103138398 (GRCh38)
                5:102474102 (GRCh37)
                Canonical SPDI:
                NC_000005.10:103138397:G:A
                Gene:
                PPIP5K2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000005.10:g.103138398G>A, NC_000005.9:g.102474102G>A, NG_051568.1:g.23151G>A, NM_015216.5:c.416G>A, NM_015216.4:c.416G>A, NM_015216.3:c.416G>A, NM_001281471.3:c.416G>A, NM_001281471.2:c.416G>A, NM_001281471.1:c.416G>A, NM_001276277.3:c.416G>A, NM_001276277.2:c.416G>A, NM_001276277.1:c.416G>A, NM_001345873.2:c.416G>A, NM_001345873.1:c.416G>A, NM_001345872.2:c.416G>A, NM_001345872.1:c.416G>A, NM_001345871.2:c.416G>A, NM_001345871.1:c.416G>A, NM_001345876.2:c.416G>A, NM_001345876.1:c.416G>A, NM_001345878.2:c.416G>A, NM_001345878.1:c.416G>A, NM_001345874.2:c.416G>A, NM_001345874.1:c.416G>A, NM_001345875.2:c.416G>A, NM_001345875.1:c.416G>A, NM_001345877.2:c.416G>A, NM_001345877.1:c.416G>A, NW_003871061.1:g.53265G>A, XM_011543290.4:c.416G>A, XM_011543290.3:c.416G>A, XM_011543290.2:c.416G>A, XM_011543290.1:c.416G>A, XM_005277534.3:c.416G>A, XM_005277534.2:c.416G>A, XM_005277534.1:c.416G>A, XM_005277535.3:c.416G>A, XM_005277535.2:c.416G>A, XM_005277535.1:c.416G>A, XM_005277536.3:c.416G>A, XM_005277536.2:c.416G>A, XM_005277536.1:c.416G>A, XM_006714576.3:c.416G>A, XM_006714576.2:c.416G>A, XM_006714576.1:c.416G>A, XM_005277539.3:c.416G>A, XM_005277539.2:c.416G>A, XM_005277539.1:c.416G>A, XM_017009273.3:c.416G>A, XM_017009273.2:c.416G>A, XM_017009273.1:c.416G>A, XM_006714577.3:c.416G>A, XM_006714577.2:c.416G>A, XM_006714577.1:c.416G>A, XM_017009274.3:c.416G>A, XM_017009274.2:c.416G>A, XM_017009274.1:c.416G>A, XM_005277541.3:c.416G>A, XM_005277541.2:c.416G>A, XM_005277541.1:c.416G>A, XM_047417006.1:c.416G>A, XM_047417007.1:c.416G>A, XM_047417008.1:c.416G>A, XM_047417009.1:c.416G>A, XM_047417010.1:c.416G>A, XM_047417011.1:c.416G>A, XM_047417012.1:c.416G>A, XM_047417013.1:c.416G>A, XM_047417014.1:c.416G>A, NR_074081.1:n.935G>A, NP_056031.2:p.Ser139Asn, NP_001268400.1:p.Ser139Asn, NP_001263206.1:p.Ser139Asn, NP_001332802.1:p.Ser139Asn, NP_001332801.1:p.Ser139Asn, NP_001332800.1:p.Ser139Asn, NP_001332805.1:p.Ser139Asn, NP_001332807.1:p.Ser139Asn, NP_001332803.1:p.Ser139Asn, NP_001332804.1:p.Ser139Asn, NP_001332806.1:p.Ser139Asn, XP_011541592.1:p.Ser139Asn, XP_005277591.1:p.Ser139Asn, XP_005277592.1:p.Ser139Asn, XP_005277593.1:p.Ser139Asn, XP_006714639.1:p.Ser139Asn, XP_005277596.1:p.Ser139Asn, XP_016864762.1:p.Ser139Asn, XP_006714640.1:p.Ser139Asn, XP_016864763.1:p.Ser139Asn, XP_005277598.1:p.Ser139Asn, XP_047272962.1:p.Ser139Asn, XP_047272963.1:p.Ser139Asn, XP_047272964.1:p.Ser139Asn, XP_047272965.1:p.Ser139Asn, XP_047272966.1:p.Ser139Asn, XP_047272967.1:p.Ser139Asn, XP_047272968.1:p.Ser139Asn, XP_047272969.1:p.Ser139Asn, XP_047272970.1:p.Ser139Asn

                8.

                rs1472426464 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  5:103133535 (GRCh38)
                  5:102469239 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:103133534:G:A
                  Gene:
                  PPIP5K2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  A=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000005.10:g.103133535G>A, NC_000005.9:g.102469239G>A, NG_051568.1:g.18288G>A, NM_015216.5:c.197G>A, NM_015216.4:c.197G>A, NM_015216.3:c.197G>A, NM_001281471.3:c.197G>A, NM_001281471.2:c.197G>A, NM_001281471.1:c.197G>A, NM_001276277.3:c.197G>A, NM_001276277.2:c.197G>A, NM_001276277.1:c.197G>A, NM_001345873.2:c.197G>A, NM_001345873.1:c.197G>A, NM_001345872.2:c.197G>A, NM_001345872.1:c.197G>A, NM_001345871.2:c.197G>A, NM_001345871.1:c.197G>A, NM_001345876.2:c.197G>A, NM_001345876.1:c.197G>A, NM_001345878.2:c.197G>A, NM_001345878.1:c.197G>A, NM_001345874.2:c.197G>A, NM_001345874.1:c.197G>A, NM_001345875.2:c.197G>A, NM_001345875.1:c.197G>A, NM_001345877.2:c.197G>A, NM_001345877.1:c.197G>A, NW_003871061.1:g.48402G>A, XM_011543290.4:c.197G>A, XM_011543290.3:c.197G>A, XM_011543290.2:c.197G>A, XM_011543290.1:c.197G>A, XM_005277534.3:c.197G>A, XM_005277534.2:c.197G>A, XM_005277534.1:c.197G>A, XM_005277535.3:c.197G>A, XM_005277535.2:c.197G>A, XM_005277535.1:c.197G>A, XM_005277536.3:c.197G>A, XM_005277536.2:c.197G>A, XM_005277536.1:c.197G>A, XM_006714576.3:c.197G>A, XM_006714576.2:c.197G>A, XM_006714576.1:c.197G>A, XM_005277539.3:c.197G>A, XM_005277539.2:c.197G>A, XM_005277539.1:c.197G>A, XM_017009273.3:c.197G>A, XM_017009273.2:c.197G>A, XM_017009273.1:c.197G>A, XM_006714577.3:c.197G>A, XM_006714577.2:c.197G>A, XM_006714577.1:c.197G>A, XM_017009274.3:c.197G>A, XM_017009274.2:c.197G>A, XM_017009274.1:c.197G>A, XM_005277541.3:c.197G>A, XM_005277541.2:c.197G>A, XM_005277541.1:c.197G>A, XM_047417006.1:c.197G>A, XM_047417007.1:c.197G>A, XM_047417008.1:c.197G>A, XM_047417009.1:c.197G>A, XM_047417010.1:c.197G>A, XM_047417011.1:c.197G>A, XM_047417012.1:c.197G>A, XM_047417013.1:c.197G>A, XM_047417014.1:c.197G>A, NR_074081.1:n.716G>A, NP_056031.2:p.Arg66Gln, NP_001268400.1:p.Arg66Gln, NP_001263206.1:p.Arg66Gln, NP_001332802.1:p.Arg66Gln, NP_001332801.1:p.Arg66Gln, NP_001332800.1:p.Arg66Gln, NP_001332805.1:p.Arg66Gln, NP_001332807.1:p.Arg66Gln, NP_001332803.1:p.Arg66Gln, NP_001332804.1:p.Arg66Gln, NP_001332806.1:p.Arg66Gln, XP_011541592.1:p.Arg66Gln, XP_005277591.1:p.Arg66Gln, XP_005277592.1:p.Arg66Gln, XP_005277593.1:p.Arg66Gln, XP_006714639.1:p.Arg66Gln, XP_005277596.1:p.Arg66Gln, XP_016864762.1:p.Arg66Gln, XP_006714640.1:p.Arg66Gln, XP_016864763.1:p.Arg66Gln, XP_005277598.1:p.Arg66Gln, XP_047272962.1:p.Arg66Gln, XP_047272963.1:p.Arg66Gln, XP_047272964.1:p.Arg66Gln, XP_047272965.1:p.Arg66Gln, XP_047272966.1:p.Arg66Gln, XP_047272967.1:p.Arg66Gln, XP_047272968.1:p.Arg66Gln, XP_047272969.1:p.Arg66Gln, XP_047272970.1:p.Arg66Gln

                  9.

                  rs1469374697 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    5:103133584 (GRCh38)
                    5:102469288 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:103133583:T:A
                    Gene:
                    PPIP5K2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000071/1 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000005.10:g.103133584T>A, NC_000005.9:g.102469288T>A, NG_051568.1:g.18337T>A, NM_015216.5:c.246T>A, NM_015216.4:c.246T>A, NM_015216.3:c.246T>A, NM_001281471.3:c.246T>A, NM_001281471.2:c.246T>A, NM_001281471.1:c.246T>A, NM_001276277.3:c.246T>A, NM_001276277.2:c.246T>A, NM_001276277.1:c.246T>A, NM_001345873.2:c.246T>A, NM_001345873.1:c.246T>A, NM_001345872.2:c.246T>A, NM_001345872.1:c.246T>A, NM_001345871.2:c.246T>A, NM_001345871.1:c.246T>A, NM_001345876.2:c.246T>A, NM_001345876.1:c.246T>A, NM_001345878.2:c.246T>A, NM_001345878.1:c.246T>A, NM_001345874.2:c.246T>A, NM_001345874.1:c.246T>A, NM_001345875.2:c.246T>A, NM_001345875.1:c.246T>A, NM_001345877.2:c.246T>A, NM_001345877.1:c.246T>A, NW_003871061.1:g.48451T>A, XM_011543290.4:c.246T>A, XM_011543290.3:c.246T>A, XM_011543290.2:c.246T>A, XM_011543290.1:c.246T>A, XM_005277534.3:c.246T>A, XM_005277534.2:c.246T>A, XM_005277534.1:c.246T>A, XM_005277535.3:c.246T>A, XM_005277535.2:c.246T>A, XM_005277535.1:c.246T>A, XM_005277536.3:c.246T>A, XM_005277536.2:c.246T>A, XM_005277536.1:c.246T>A, XM_006714576.3:c.246T>A, XM_006714576.2:c.246T>A, XM_006714576.1:c.246T>A, XM_005277539.3:c.246T>A, XM_005277539.2:c.246T>A, XM_005277539.1:c.246T>A, XM_017009273.3:c.246T>A, XM_017009273.2:c.246T>A, XM_017009273.1:c.246T>A, XM_006714577.3:c.246T>A, XM_006714577.2:c.246T>A, XM_006714577.1:c.246T>A, XM_017009274.3:c.246T>A, XM_017009274.2:c.246T>A, XM_017009274.1:c.246T>A, XM_005277541.3:c.246T>A, XM_005277541.2:c.246T>A, XM_005277541.1:c.246T>A, XM_047417006.1:c.246T>A, XM_047417007.1:c.246T>A, XM_047417008.1:c.246T>A, XM_047417009.1:c.246T>A, XM_047417010.1:c.246T>A, XM_047417011.1:c.246T>A, XM_047417012.1:c.246T>A, XM_047417013.1:c.246T>A, XM_047417014.1:c.246T>A, NR_074081.1:n.765T>A

                    10.

                    rs1467666607 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      5:103201528 (GRCh38)
                      5:102537229 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:103201527:G:A
                      Gene:
                      PPIP5K2 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000005.10:g.103201528G>A, NC_000005.9:g.102537229G>A, NG_051568.1:g.86281G>A, NM_015216.5:c.3563G>A, NM_015216.4:c.3563G>A, NM_015216.3:c.3563G>A, NM_001281471.3:c.3731G>A, NM_001281471.2:c.3731G>A, NM_001281471.1:c.3731G>A, NM_001276277.3:c.3626G>A, NM_001276277.2:c.3626G>A, NM_001276277.1:c.3626G>A, NM_001345873.2:c.3623G>A, NM_001345873.1:c.3623G>A, NM_001345872.2:c.3497G>A, NM_001345872.1:c.3497G>A, NM_001345871.2:c.3452G>A, NM_001345871.1:c.3452G>A, NM_001345876.2:c.3443G>A, NM_001345876.1:c.3443G>A, NM_001345878.2:c.3440G>A, NM_001345878.1:c.3440G>A, NM_001345874.2:c.3389G>A, NM_001345874.1:c.3389G>A, NM_001345875.2:c.3269G>A, NM_001345875.1:c.3269G>A, NM_001345877.2:c.3266G>A, NM_001345877.1:c.3266G>A, NW_003871061.1:g.116395G>A, XM_005277534.3:c.3671G>A, XM_005277534.2:c.3671G>A, XM_005277534.1:c.3671G>A, XM_005277535.3:c.3668G>A, XM_005277535.2:c.3668G>A, XM_005277535.1:c.3668G>A, XM_005277536.3:c.3608G>A, XM_005277536.2:c.3608G>A, XM_005277536.1:c.3608G>A, XM_006714576.3:c.3551G>A, XM_006714576.2:c.3551G>A, XM_006714576.1:c.3551G>A, XM_005277539.3:c.3488G>A, XM_005277539.2:c.3488G>A, XM_005277539.1:c.3488G>A, XM_017009273.3:c.3386G>A, XM_017009273.2:c.3386G>A, XM_017009273.1:c.3386G>A, XM_006714577.3:c.3377G>A, XM_006714577.2:c.3377G>A, XM_006714577.1:c.3377G>A, XM_017009274.3:c.3332G>A, XM_017009274.2:c.3332G>A, XM_017009274.1:c.3332G>A, XM_005277541.3:c.3314G>A, XM_005277541.2:c.3314G>A, XM_005277541.1:c.3314G>A, XM_047417006.1:c.3560G>A, XM_047417007.1:c.3506G>A, XM_047417008.1:c.3494G>A, XM_047417009.1:c.3485G>A, XM_047417010.1:c.3449G>A, XM_047417011.1:c.3434G>A, XM_047417012.1:c.3431G>A, XM_047417013.1:c.3329G>A, XM_047417014.1:c.3311G>A, NR_074081.1:n.4249G>A, NP_056031.2:p.Ser1188Asn, NP_001268400.1:p.Ser1244Asn, NP_001263206.1:p.Ser1209Asn, NP_001332802.1:p.Ser1208Asn, NP_001332801.1:p.Ser1166Asn, NP_001332800.1:p.Ser1151Asn, NP_001332805.1:p.Ser1148Asn, NP_001332807.1:p.Ser1147Asn, NP_001332803.1:p.Ser1130Asn, NP_001332804.1:p.Ser1090Asn, NP_001332806.1:p.Ser1089Asn, XP_005277591.1:p.Ser1224Asn, XP_005277592.1:p.Ser1223Asn, XP_005277593.1:p.Ser1203Asn, XP_006714639.1:p.Ser1184Asn, XP_005277596.1:p.Ser1163Asn, XP_016864762.1:p.Ser1129Asn, XP_006714640.1:p.Ser1126Asn, XP_016864763.1:p.Ser1111Asn, XP_005277598.1:p.Ser1105Asn, XP_047272962.1:p.Ser1187Asn, XP_047272963.1:p.Ser1169Asn, XP_047272964.1:p.Ser1165Asn, XP_047272965.1:p.Ser1162Asn, XP_047272966.1:p.Ser1150Asn, XP_047272967.1:p.Ser1145Asn, XP_047272968.1:p.Ser1144Asn, XP_047272969.1:p.Ser1110Asn, XP_047272970.1:p.Ser1104Asn

                      11.

                      rs1467248498 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        5:103173959 (GRCh38)
                        5:102509663 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:103173958:G:T
                        Gene:
                        PPIP5K2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:
                        NC_000005.10:g.103173959G>T, NC_000005.9:g.102509663G>T, NG_051568.1:g.58712G>T, NM_015216.5:c.2516G>T, NM_015216.4:c.2516G>T, NM_015216.3:c.2516G>T, NM_001281471.3:c.2516G>T, NM_001281471.2:c.2516G>T, NM_001281471.1:c.2516G>T, NM_001276277.3:c.2516G>T, NM_001276277.2:c.2516G>T, NM_001276277.1:c.2516G>T, NM_001345873.2:c.2513G>T, NM_001345873.1:c.2513G>T, NM_001345872.2:c.2516G>T, NM_001345872.1:c.2516G>T, NM_001345871.2:c.2516G>T, NM_001345871.1:c.2516G>T, NM_001345876.2:c.2516G>T, NM_001345876.1:c.2516G>T, NM_001345878.2:c.2513G>T, NM_001345878.1:c.2513G>T, NM_001345874.2:c.2516G>T, NM_001345874.1:c.2516G>T, NM_001345875.2:c.2516G>T, NM_001345875.1:c.2516G>T, NM_001345877.2:c.2513G>T, NM_001345877.1:c.2513G>T, NW_003871061.1:g.88826G>T, XM_011543290.4:c.2516G>T, XM_011543290.3:c.2516G>T, XM_011543290.2:c.2516G>T, XM_011543290.1:c.2516G>T, XM_005277534.3:c.2516G>T, XM_005277534.2:c.2516G>T, XM_005277534.1:c.2516G>T, XM_005277535.3:c.2513G>T, XM_005277535.2:c.2513G>T, XM_005277535.1:c.2513G>T, XM_005277536.3:c.2516G>T, XM_005277536.2:c.2516G>T, XM_005277536.1:c.2516G>T, XM_006714576.3:c.2516G>T, XM_006714576.2:c.2516G>T, XM_006714576.1:c.2516G>T, XM_005277539.3:c.2516G>T, XM_005277539.2:c.2516G>T, XM_005277539.1:c.2516G>T, XM_017009273.3:c.2513G>T, XM_017009273.2:c.2513G>T, XM_017009273.1:c.2513G>T, XM_006714577.3:c.2516G>T, XM_006714577.2:c.2516G>T, XM_006714577.1:c.2516G>T, XM_017009274.3:c.2516G>T, XM_017009274.2:c.2516G>T, XM_017009274.1:c.2516G>T, XM_005277541.3:c.2516G>T, XM_005277541.2:c.2516G>T, XM_005277541.1:c.2516G>T, XM_047417006.1:c.2513G>T, XM_047417007.1:c.2516G>T, XM_047417008.1:c.2513G>T, XM_047417009.1:c.2513G>T, XM_047417010.1:c.2513G>T, XM_047417011.1:c.2516G>T, XM_047417012.1:c.2513G>T, XM_047417013.1:c.2513G>T, XM_047417014.1:c.2513G>T, NR_074081.1:n.3035G>T, NP_056031.2:p.Gly839Val, NP_001268400.1:p.Gly839Val, NP_001263206.1:p.Gly839Val, NP_001332802.1:p.Gly838Val, NP_001332801.1:p.Gly839Val, NP_001332800.1:p.Gly839Val, NP_001332805.1:p.Gly839Val, NP_001332807.1:p.Gly838Val, NP_001332803.1:p.Gly839Val, NP_001332804.1:p.Gly839Val, NP_001332806.1:p.Gly838Val, XP_011541592.1:p.Gly839Val, XP_005277591.1:p.Gly839Val, XP_005277592.1:p.Gly838Val, XP_005277593.1:p.Gly839Val, XP_006714639.1:p.Gly839Val, XP_005277596.1:p.Gly839Val, XP_016864762.1:p.Gly838Val, XP_006714640.1:p.Gly839Val, XP_016864763.1:p.Gly839Val, XP_005277598.1:p.Gly839Val, XP_047272962.1:p.Gly838Val, XP_047272963.1:p.Gly839Val, XP_047272964.1:p.Gly838Val, XP_047272965.1:p.Gly838Val, XP_047272966.1:p.Gly838Val, XP_047272967.1:p.Gly839Val, XP_047272968.1:p.Gly838Val, XP_047272969.1:p.Gly838Val, XP_047272970.1:p.Gly838Val

                        12.

                        rs1463204900 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          5:103167253 (GRCh38)
                          5:102502957 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:103167252:A:C
                          Gene:
                          PPIP5K2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000043/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000005.10:g.103167253A>C, NC_000005.9:g.102502957A>C, NG_051568.1:g.52006A>C, NM_015216.5:c.1995A>C, NM_015216.4:c.1995A>C, NM_015216.3:c.1995A>C, NM_001281471.3:c.1995A>C, NM_001281471.2:c.1995A>C, NM_001281471.1:c.1995A>C, NM_001276277.3:c.1995A>C, NM_001276277.2:c.1995A>C, NM_001276277.1:c.1995A>C, NM_001345873.2:c.1992A>C, NM_001345873.1:c.1992A>C, NM_001345872.2:c.1995A>C, NM_001345872.1:c.1995A>C, NM_001345871.2:c.1995A>C, NM_001345871.1:c.1995A>C, NM_001345876.2:c.1995A>C, NM_001345876.1:c.1995A>C, NM_001345878.2:c.1992A>C, NM_001345878.1:c.1992A>C, NM_001345874.2:c.1995A>C, NM_001345874.1:c.1995A>C, NM_001345875.2:c.1995A>C, NM_001345875.1:c.1995A>C, NM_001345877.2:c.1992A>C, NM_001345877.1:c.1992A>C, NW_003871061.1:g.82120A>C, XM_011543290.4:c.1995A>C, XM_011543290.3:c.1995A>C, XM_011543290.2:c.1995A>C, XM_011543290.1:c.1995A>C, XM_005277534.3:c.1995A>C, XM_005277534.2:c.1995A>C, XM_005277534.1:c.1995A>C, XM_005277535.3:c.1992A>C, XM_005277535.2:c.1992A>C, XM_005277535.1:c.1992A>C, XM_005277536.3:c.1995A>C, XM_005277536.2:c.1995A>C, XM_005277536.1:c.1995A>C, XM_006714576.3:c.1995A>C, XM_006714576.2:c.1995A>C, XM_006714576.1:c.1995A>C, XM_005277539.3:c.1995A>C, XM_005277539.2:c.1995A>C, XM_005277539.1:c.1995A>C, XM_017009273.3:c.1992A>C, XM_017009273.2:c.1992A>C, XM_017009273.1:c.1992A>C, XM_006714577.3:c.1995A>C, XM_006714577.2:c.1995A>C, XM_006714577.1:c.1995A>C, XM_017009274.3:c.1995A>C, XM_017009274.2:c.1995A>C, XM_017009274.1:c.1995A>C, XM_005277541.3:c.1995A>C, XM_005277541.2:c.1995A>C, XM_005277541.1:c.1995A>C, XM_047417006.1:c.1992A>C, XM_047417007.1:c.1995A>C, XM_047417008.1:c.1992A>C, XM_047417009.1:c.1992A>C, XM_047417010.1:c.1992A>C, XM_047417011.1:c.1995A>C, XM_047417012.1:c.1992A>C, XM_047417013.1:c.1992A>C, XM_047417014.1:c.1992A>C, NR_074081.1:n.2514A>C, NP_056031.2:p.Lys665Asn, NP_001268400.1:p.Lys665Asn, NP_001263206.1:p.Lys665Asn, NP_001332802.1:p.Lys664Asn, NP_001332801.1:p.Lys665Asn, NP_001332800.1:p.Lys665Asn, NP_001332805.1:p.Lys665Asn, NP_001332807.1:p.Lys664Asn, NP_001332803.1:p.Lys665Asn, NP_001332804.1:p.Lys665Asn, NP_001332806.1:p.Lys664Asn, XP_011541592.1:p.Lys665Asn, XP_005277591.1:p.Lys665Asn, XP_005277592.1:p.Lys664Asn, XP_005277593.1:p.Lys665Asn, XP_006714639.1:p.Lys665Asn, XP_005277596.1:p.Lys665Asn, XP_016864762.1:p.Lys664Asn, XP_006714640.1:p.Lys665Asn, XP_016864763.1:p.Lys665Asn, XP_005277598.1:p.Lys665Asn, XP_047272962.1:p.Lys664Asn, XP_047272963.1:p.Lys665Asn, XP_047272964.1:p.Lys664Asn, XP_047272965.1:p.Lys664Asn, XP_047272966.1:p.Lys664Asn, XP_047272967.1:p.Lys665Asn, XP_047272968.1:p.Lys664Asn, XP_047272969.1:p.Lys664Asn, XP_047272970.1:p.Lys664Asn

                          13.

                          rs1463134855 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C,T [Show Flanks]
                            Chromosome:
                            5:103186329 (GRCh38)
                            5:102522030 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:103186328:G:A,NC_000005.10:103186328:G:C,NC_000005.10:103186328:G:T
                            Gene:
                            PPIP5K2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000056/2 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            T=0.000007/1 (GnomAD)
                            C=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000005.10:g.103186329G>A, NC_000005.10:g.103186329G>C, NC_000005.10:g.103186329G>T, NC_000005.9:g.102522030G>A, NC_000005.9:g.102522030G>C, NC_000005.9:g.102522030G>T, NG_051568.1:g.71082G>A, NG_051568.1:g.71082G>C, NG_051568.1:g.71082G>T, NM_015216.5:c.3179G>A, NM_015216.5:c.3179G>C, NM_015216.5:c.3179G>T, NM_015216.4:c.3179G>A, NM_015216.4:c.3179G>C, NM_015216.4:c.3179G>T, NM_015216.3:c.3179G>A, NM_015216.3:c.3179G>C, NM_015216.3:c.3179G>T, NM_001281471.3:c.3224G>A, NM_001281471.3:c.3224G>C, NM_001281471.3:c.3224G>T, NM_001281471.2:c.3224G>A, NM_001281471.2:c.3224G>C, NM_001281471.2:c.3224G>T, NM_001281471.1:c.3224G>A, NM_001281471.1:c.3224G>C, NM_001281471.1:c.3224G>T, NM_001276277.3:c.3179G>A, NM_001276277.3:c.3179G>C, NM_001276277.3:c.3179G>T, NM_001276277.2:c.3179G>A, NM_001276277.2:c.3179G>C, NM_001276277.2:c.3179G>T, NM_001276277.1:c.3179G>A, NM_001276277.1:c.3179G>C, NM_001276277.1:c.3179G>T, NM_001345873.2:c.3176G>A, NM_001345873.2:c.3176G>C, NM_001345873.2:c.3176G>T, NM_001345873.1:c.3176G>A, NM_001345873.1:c.3176G>C, NM_001345873.1:c.3176G>T, NM_001345872.2:c.3050G>A, NM_001345872.2:c.3050G>C, NM_001345872.2:c.3050G>T, NM_001345872.1:c.3050G>A, NM_001345872.1:c.3050G>C, NM_001345872.1:c.3050G>T, NM_001345871.2:c.3005G>A, NM_001345871.2:c.3005G>C, NM_001345871.2:c.3005G>T, NM_001345871.1:c.3005G>A, NM_001345871.1:c.3005G>C, NM_001345871.1:c.3005G>T, NM_001345874.2:c.3005G>A, NM_001345874.2:c.3005G>C, NM_001345874.2:c.3005G>T, NM_001345874.1:c.3005G>A, NM_001345874.1:c.3005G>C, NM_001345874.1:c.3005G>T, NW_003871061.1:g.101196G>A, NW_003871061.1:g.101196G>C, NW_003871061.1:g.101196G>T, XM_005277534.3:c.3224G>A, XM_005277534.3:c.3224G>C, XM_005277534.3:c.3224G>T, XM_005277534.2:c.3224G>A, XM_005277534.2:c.3224G>C, XM_005277534.2:c.3224G>T, XM_005277534.1:c.3224G>A, XM_005277534.1:c.3224G>C, XM_005277534.1:c.3224G>T, XM_005277535.3:c.3221G>A, XM_005277535.3:c.3221G>C, XM_005277535.3:c.3221G>T, XM_005277535.2:c.3221G>A, XM_005277535.2:c.3221G>C, XM_005277535.2:c.3221G>T, XM_005277535.1:c.3221G>A, XM_005277535.1:c.3221G>C, XM_005277535.1:c.3221G>T, XM_005277536.3:c.3224G>A, XM_005277536.3:c.3224G>C, XM_005277536.3:c.3224G>T, XM_005277536.2:c.3224G>A, XM_005277536.2:c.3224G>C, XM_005277536.2:c.3224G>T, XM_005277536.1:c.3224G>A, XM_005277536.1:c.3224G>C, XM_005277536.1:c.3224G>T, XM_017009273.3:c.3002G>A, XM_017009273.3:c.3002G>C, XM_017009273.3:c.3002G>T, XM_017009273.2:c.3002G>A, XM_017009273.2:c.3002G>C, XM_017009273.2:c.3002G>T, XM_017009273.1:c.3002G>A, XM_017009273.1:c.3002G>C, XM_017009273.1:c.3002G>T, XM_047417006.1:c.3176G>A, XM_047417006.1:c.3176G>C, XM_047417006.1:c.3176G>T, XM_047417008.1:c.3047G>A, XM_047417008.1:c.3047G>C, XM_047417008.1:c.3047G>T, XM_047417010.1:c.3002G>A, XM_047417010.1:c.3002G>C, XM_047417010.1:c.3002G>T, XM_047417011.1:c.3050G>A, XM_047417011.1:c.3050G>C, XM_047417011.1:c.3050G>T, XM_047417012.1:c.3047G>A, XM_047417012.1:c.3047G>C, XM_047417012.1:c.3047G>T, NR_074081.1:n.3742G>A, NR_074081.1:n.3742G>C, NR_074081.1:n.3742G>T, NP_056031.2:p.Cys1060Tyr, NP_056031.2:p.Cys1060Ser, NP_056031.2:p.Cys1060Phe, NP_001268400.1:p.Cys1075Tyr, NP_001268400.1:p.Cys1075Ser, NP_001268400.1:p.Cys1075Phe, NP_001263206.1:p.Cys1060Tyr, NP_001263206.1:p.Cys1060Ser, NP_001263206.1:p.Cys1060Phe, NP_001332802.1:p.Cys1059Tyr, NP_001332802.1:p.Cys1059Ser, NP_001332802.1:p.Cys1059Phe, NP_001332801.1:p.Cys1017Tyr, NP_001332801.1:p.Cys1017Ser, NP_001332801.1:p.Cys1017Phe, NP_001332800.1:p.Cys1002Tyr, NP_001332800.1:p.Cys1002Ser, NP_001332800.1:p.Cys1002Phe, NP_001332803.1:p.Cys1002Tyr, NP_001332803.1:p.Cys1002Ser, NP_001332803.1:p.Cys1002Phe, XP_005277591.1:p.Cys1075Tyr, XP_005277591.1:p.Cys1075Ser, XP_005277591.1:p.Cys1075Phe, XP_005277592.1:p.Cys1074Tyr, XP_005277592.1:p.Cys1074Ser, XP_005277592.1:p.Cys1074Phe, XP_005277593.1:p.Cys1075Tyr, XP_005277593.1:p.Cys1075Ser, XP_005277593.1:p.Cys1075Phe, XP_016864762.1:p.Cys1001Tyr, XP_016864762.1:p.Cys1001Ser, XP_016864762.1:p.Cys1001Phe, XP_047272962.1:p.Cys1059Tyr, XP_047272962.1:p.Cys1059Ser, XP_047272962.1:p.Cys1059Phe, XP_047272964.1:p.Cys1016Tyr, XP_047272964.1:p.Cys1016Ser, XP_047272964.1:p.Cys1016Phe, XP_047272966.1:p.Cys1001Tyr, XP_047272966.1:p.Cys1001Ser, XP_047272966.1:p.Cys1001Phe, XP_047272967.1:p.Cys1017Tyr, XP_047272967.1:p.Cys1017Ser, XP_047272967.1:p.Cys1017Phe, XP_047272968.1:p.Cys1016Tyr, XP_047272968.1:p.Cys1016Ser, XP_047272968.1:p.Cys1016Phe

                            14.

                            rs1462071652 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              5:103168289 (GRCh38)
                              5:102503993 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:103168288:C:A,NC_000005.10:103168288:C:T
                              Gene:
                              PPIP5K2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000005.10:g.103168289C>A, NC_000005.10:g.103168289C>T, NC_000005.9:g.102503993C>A, NC_000005.9:g.102503993C>T, NG_051568.1:g.53042C>A, NG_051568.1:g.53042C>T, NM_015216.5:c.2280C>A, NM_015216.5:c.2280C>T, NM_015216.4:c.2280C>A, NM_015216.4:c.2280C>T, NM_015216.3:c.2280C>A, NM_015216.3:c.2280C>T, NM_001281471.3:c.2280C>A, NM_001281471.3:c.2280C>T, NM_001281471.2:c.2280C>A, NM_001281471.2:c.2280C>T, NM_001281471.1:c.2280C>A, NM_001281471.1:c.2280C>T, NM_001276277.3:c.2280C>A, NM_001276277.3:c.2280C>T, NM_001276277.2:c.2280C>A, NM_001276277.2:c.2280C>T, NM_001276277.1:c.2280C>A, NM_001276277.1:c.2280C>T, NM_001345873.2:c.2277C>A, NM_001345873.2:c.2277C>T, NM_001345873.1:c.2277C>A, NM_001345873.1:c.2277C>T, NM_001345872.2:c.2280C>A, NM_001345872.2:c.2280C>T, NM_001345872.1:c.2280C>A, NM_001345872.1:c.2280C>T, NM_001345871.2:c.2280C>A, NM_001345871.2:c.2280C>T, NM_001345871.1:c.2280C>A, NM_001345871.1:c.2280C>T, NM_001345876.2:c.2280C>A, NM_001345876.2:c.2280C>T, NM_001345876.1:c.2280C>A, NM_001345876.1:c.2280C>T, NM_001345878.2:c.2277C>A, NM_001345878.2:c.2277C>T, NM_001345878.1:c.2277C>A, NM_001345878.1:c.2277C>T, NM_001345874.2:c.2280C>A, NM_001345874.2:c.2280C>T, NM_001345874.1:c.2280C>A, NM_001345874.1:c.2280C>T, NM_001345875.2:c.2280C>A, NM_001345875.2:c.2280C>T, NM_001345875.1:c.2280C>A, NM_001345875.1:c.2280C>T, NM_001345877.2:c.2277C>A, NM_001345877.2:c.2277C>T, NM_001345877.1:c.2277C>A, NM_001345877.1:c.2277C>T, NW_003871061.1:g.83156C>A, NW_003871061.1:g.83156C>T, XM_011543290.4:c.2280C>A, XM_011543290.4:c.2280C>T, XM_011543290.3:c.2280C>A, XM_011543290.3:c.2280C>T, XM_011543290.2:c.2280C>A, XM_011543290.2:c.2280C>T, XM_011543290.1:c.2280C>A, XM_011543290.1:c.2280C>T, XM_005277534.3:c.2280C>A, XM_005277534.3:c.2280C>T, XM_005277534.2:c.2280C>A, XM_005277534.2:c.2280C>T, XM_005277534.1:c.2280C>A, XM_005277534.1:c.2280C>T, XM_005277535.3:c.2277C>A, XM_005277535.3:c.2277C>T, XM_005277535.2:c.2277C>A, XM_005277535.2:c.2277C>T, XM_005277535.1:c.2277C>A, XM_005277535.1:c.2277C>T, XM_005277536.3:c.2280C>A, XM_005277536.3:c.2280C>T, XM_005277536.2:c.2280C>A, XM_005277536.2:c.2280C>T, XM_005277536.1:c.2280C>A, XM_005277536.1:c.2280C>T, XM_006714576.3:c.2280C>A, XM_006714576.3:c.2280C>T, XM_006714576.2:c.2280C>A, XM_006714576.2:c.2280C>T, XM_006714576.1:c.2280C>A, XM_006714576.1:c.2280C>T, XM_005277539.3:c.2280C>A, XM_005277539.3:c.2280C>T, XM_005277539.2:c.2280C>A, XM_005277539.2:c.2280C>T, XM_005277539.1:c.2280C>A, XM_005277539.1:c.2280C>T, XM_017009273.3:c.2277C>A, XM_017009273.3:c.2277C>T, XM_017009273.2:c.2277C>A, XM_017009273.2:c.2277C>T, XM_017009273.1:c.2277C>A, XM_017009273.1:c.2277C>T, XM_006714577.3:c.2280C>A, XM_006714577.3:c.2280C>T, XM_006714577.2:c.2280C>A, XM_006714577.2:c.2280C>T, XM_006714577.1:c.2280C>A, XM_006714577.1:c.2280C>T, XM_017009274.3:c.2280C>A, XM_017009274.3:c.2280C>T, XM_017009274.2:c.2280C>A, XM_017009274.2:c.2280C>T, XM_017009274.1:c.2280C>A, XM_017009274.1:c.2280C>T, XM_005277541.3:c.2280C>A, XM_005277541.3:c.2280C>T, XM_005277541.2:c.2280C>A, XM_005277541.2:c.2280C>T, XM_005277541.1:c.2280C>A, XM_005277541.1:c.2280C>T, XM_047417006.1:c.2277C>A, XM_047417006.1:c.2277C>T, XM_047417007.1:c.2280C>A, XM_047417007.1:c.2280C>T, XM_047417008.1:c.2277C>A, XM_047417008.1:c.2277C>T, XM_047417009.1:c.2277C>A, XM_047417009.1:c.2277C>T, XM_047417010.1:c.2277C>A, XM_047417010.1:c.2277C>T, XM_047417011.1:c.2280C>A, XM_047417011.1:c.2280C>T, XM_047417012.1:c.2277C>A, XM_047417012.1:c.2277C>T, XM_047417013.1:c.2277C>A, XM_047417013.1:c.2277C>T, XM_047417014.1:c.2277C>A, XM_047417014.1:c.2277C>T, NR_074081.1:n.2799C>A, NR_074081.1:n.2799C>T

                              15.

                              rs1459011145 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                5:103180138 (GRCh38)
                                5:102515839 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:103180137:A:G
                                Gene:
                                PPIP5K2 (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_000005.10:g.103180138A>G, NW_003871061.1:g.95005A>G, NG_051568.1:g.64891A>G, NM_015216.5:c.2872A>G, NM_015216.4:c.2872A>G, NM_015216.3:c.2872A>G, NM_001281471.3:c.2917A>G, NM_001281471.2:c.2917A>G, NM_001281471.1:c.2917A>G, NM_001276277.3:c.2872A>G, NM_001276277.2:c.2872A>G, NM_001276277.1:c.2872A>G, NM_001345873.2:c.2869A>G, NM_001345873.1:c.2869A>G, NM_001345872.2:c.2917A>G, NM_001345872.1:c.2917A>G, NM_001345871.2:c.2872A>G, NM_001345871.1:c.2872A>G, NM_001345876.2:c.2872A>G, NM_001345876.1:c.2872A>G, NM_001345878.2:c.2869A>G, NM_001345878.1:c.2869A>G, NM_001345874.2:c.2872A>G, NM_001345874.1:c.2872A>G, NM_001345875.2:c.2872A>G, NM_001345875.1:c.2872A>G, NM_001345877.2:c.2869A>G, NM_001345877.1:c.2869A>G, NC_000005.9:g.102515839A>G, XM_011543290.4:c.2917A>G, XM_011543290.3:c.2917A>G, XM_011543290.2:c.2917A>G, XM_011543290.1:c.2917A>G, XM_005277534.3:c.2917A>G, XM_005277534.2:c.2917A>G, XM_005277534.1:c.2917A>G, XM_005277535.3:c.2914A>G, XM_005277535.2:c.2914A>G, XM_005277535.1:c.2914A>G, XM_005277536.3:c.2917A>G, XM_005277536.2:c.2917A>G, XM_005277536.1:c.2917A>G, XM_006714576.3:c.2917A>G, XM_006714576.2:c.2917A>G, XM_006714576.1:c.2917A>G, XM_005277539.3:c.2917A>G, XM_005277539.2:c.2917A>G, XM_005277539.1:c.2917A>G, XM_017009273.3:c.2869A>G, XM_017009273.2:c.2869A>G, XM_017009273.1:c.2869A>G, XM_006714577.3:c.2917A>G, XM_006714577.2:c.2917A>G, XM_006714577.1:c.2917A>G, XM_017009274.3:c.2872A>G, XM_017009274.2:c.2872A>G, XM_017009274.1:c.2872A>G, XM_005277541.3:c.2917A>G, XM_005277541.2:c.2917A>G, XM_005277541.1:c.2917A>G, XM_047417006.1:c.2869A>G, XM_047417007.1:c.2872A>G, XM_047417008.1:c.2914A>G, XM_047417009.1:c.2914A>G, XM_047417010.1:c.2869A>G, XM_047417011.1:c.2917A>G, XM_047417012.1:c.2914A>G, XM_047417013.1:c.2869A>G, XM_047417014.1:c.2914A>G, NR_074081.1:n.3435A>G, NP_056031.2:p.Ile958Val, NP_001268400.1:p.Ile973Val, NP_001263206.1:p.Ile958Val, NP_001332802.1:p.Ile957Val, NP_001332801.1:p.Ile973Val, NP_001332800.1:p.Ile958Val, NP_001332805.1:p.Ile958Val, NP_001332807.1:p.Ile957Val, NP_001332803.1:p.Ile958Val, NP_001332804.1:p.Ile958Val, NP_001332806.1:p.Ile957Val, XP_011541592.1:p.Ile973Val, XP_005277591.1:p.Ile973Val, XP_005277592.1:p.Ile972Val, XP_005277593.1:p.Ile973Val, XP_006714639.1:p.Ile973Val, XP_005277596.1:p.Ile973Val, XP_016864762.1:p.Ile957Val, XP_006714640.1:p.Ile973Val, XP_016864763.1:p.Ile958Val, XP_005277598.1:p.Ile973Val, XP_047272962.1:p.Ile957Val, XP_047272963.1:p.Ile958Val, XP_047272964.1:p.Ile972Val, XP_047272965.1:p.Ile972Val, XP_047272966.1:p.Ile957Val, XP_047272967.1:p.Ile973Val, XP_047272968.1:p.Ile972Val, XP_047272969.1:p.Ile957Val, XP_047272970.1:p.Ile972Val

                                16.

                                rs1458670185 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  5:103158459 (GRCh38)
                                  5:102494163 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:103158458:T:C
                                  Gene:
                                  PPIP5K2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000005.10:g.103158459T>C, NC_000005.9:g.102494163T>C, NG_051568.1:g.43212T>C, NM_015216.5:c.1623T>C, NM_015216.4:c.1623T>C, NM_015216.3:c.1623T>C, NM_001281471.3:c.1623T>C, NM_001281471.2:c.1623T>C, NM_001281471.1:c.1623T>C, NM_001276277.3:c.1623T>C, NM_001276277.2:c.1623T>C, NM_001276277.1:c.1623T>C, NM_001345873.2:c.1620T>C, NM_001345873.1:c.1620T>C, NM_001345872.2:c.1623T>C, NM_001345872.1:c.1623T>C, NM_001345871.2:c.1623T>C, NM_001345871.1:c.1623T>C, NM_001345876.2:c.1623T>C, NM_001345876.1:c.1623T>C, NM_001345878.2:c.1620T>C, NM_001345878.1:c.1620T>C, NM_001345874.2:c.1623T>C, NM_001345874.1:c.1623T>C, NM_001345875.2:c.1623T>C, NM_001345875.1:c.1623T>C, NM_001345877.2:c.1620T>C, NM_001345877.1:c.1620T>C, NW_003871061.1:g.73326T>C, XM_011543290.4:c.1623T>C, XM_011543290.3:c.1623T>C, XM_011543290.2:c.1623T>C, XM_011543290.1:c.1623T>C, XM_005277534.3:c.1623T>C, XM_005277534.2:c.1623T>C, XM_005277534.1:c.1623T>C, XM_005277535.3:c.1620T>C, XM_005277535.2:c.1620T>C, XM_005277535.1:c.1620T>C, XM_005277536.3:c.1623T>C, XM_005277536.2:c.1623T>C, XM_005277536.1:c.1623T>C, XM_006714576.3:c.1623T>C, XM_006714576.2:c.1623T>C, XM_006714576.1:c.1623T>C, XM_005277539.3:c.1623T>C, XM_005277539.2:c.1623T>C, XM_005277539.1:c.1623T>C, XM_017009273.3:c.1620T>C, XM_017009273.2:c.1620T>C, XM_017009273.1:c.1620T>C, XM_006714577.3:c.1623T>C, XM_006714577.2:c.1623T>C, XM_006714577.1:c.1623T>C, XM_017009274.3:c.1623T>C, XM_017009274.2:c.1623T>C, XM_017009274.1:c.1623T>C, XM_005277541.3:c.1623T>C, XM_005277541.2:c.1623T>C, XM_005277541.1:c.1623T>C, XM_047417006.1:c.1620T>C, XM_047417007.1:c.1623T>C, XM_047417008.1:c.1620T>C, XM_047417009.1:c.1620T>C, XM_047417010.1:c.1620T>C, XM_047417011.1:c.1623T>C, XM_047417012.1:c.1620T>C, XM_047417013.1:c.1620T>C, XM_047417014.1:c.1620T>C, NR_074081.1:n.2142T>C

                                  17.

                                  rs1456355340 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    5:103168229 (GRCh38)
                                    5:102503933 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:103168228:G:C
                                    Gene:
                                    PPIP5K2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000005.10:g.103168229G>C, NC_000005.9:g.102503933G>C, NG_051568.1:g.52982G>C, NM_015216.5:c.2220G>C, NM_015216.4:c.2220G>C, NM_015216.3:c.2220G>C, NM_001281471.3:c.2220G>C, NM_001281471.2:c.2220G>C, NM_001281471.1:c.2220G>C, NM_001276277.3:c.2220G>C, NM_001276277.2:c.2220G>C, NM_001276277.1:c.2220G>C, NM_001345873.2:c.2217G>C, NM_001345873.1:c.2217G>C, NM_001345872.2:c.2220G>C, NM_001345872.1:c.2220G>C, NM_001345871.2:c.2220G>C, NM_001345871.1:c.2220G>C, NM_001345876.2:c.2220G>C, NM_001345876.1:c.2220G>C, NM_001345878.2:c.2217G>C, NM_001345878.1:c.2217G>C, NM_001345874.2:c.2220G>C, NM_001345874.1:c.2220G>C, NM_001345875.2:c.2220G>C, NM_001345875.1:c.2220G>C, NM_001345877.2:c.2217G>C, NM_001345877.1:c.2217G>C, NW_003871061.1:g.83096G>C, XM_011543290.4:c.2220G>C, XM_011543290.3:c.2220G>C, XM_011543290.2:c.2220G>C, XM_011543290.1:c.2220G>C, XM_005277534.3:c.2220G>C, XM_005277534.2:c.2220G>C, XM_005277534.1:c.2220G>C, XM_005277535.3:c.2217G>C, XM_005277535.2:c.2217G>C, XM_005277535.1:c.2217G>C, XM_005277536.3:c.2220G>C, XM_005277536.2:c.2220G>C, XM_005277536.1:c.2220G>C, XM_006714576.3:c.2220G>C, XM_006714576.2:c.2220G>C, XM_006714576.1:c.2220G>C, XM_005277539.3:c.2220G>C, XM_005277539.2:c.2220G>C, XM_005277539.1:c.2220G>C, XM_017009273.3:c.2217G>C, XM_017009273.2:c.2217G>C, XM_017009273.1:c.2217G>C, XM_006714577.3:c.2220G>C, XM_006714577.2:c.2220G>C, XM_006714577.1:c.2220G>C, XM_017009274.3:c.2220G>C, XM_017009274.2:c.2220G>C, XM_017009274.1:c.2220G>C, XM_005277541.3:c.2220G>C, XM_005277541.2:c.2220G>C, XM_005277541.1:c.2220G>C, XM_047417006.1:c.2217G>C, XM_047417007.1:c.2220G>C, XM_047417008.1:c.2217G>C, XM_047417009.1:c.2217G>C, XM_047417010.1:c.2217G>C, XM_047417011.1:c.2220G>C, XM_047417012.1:c.2217G>C, XM_047417013.1:c.2217G>C, XM_047417014.1:c.2217G>C, NR_074081.1:n.2739G>C, NP_056031.2:p.Leu740Phe, NP_001268400.1:p.Leu740Phe, NP_001263206.1:p.Leu740Phe, NP_001332802.1:p.Leu739Phe, NP_001332801.1:p.Leu740Phe, NP_001332800.1:p.Leu740Phe, NP_001332805.1:p.Leu740Phe, NP_001332807.1:p.Leu739Phe, NP_001332803.1:p.Leu740Phe, NP_001332804.1:p.Leu740Phe, NP_001332806.1:p.Leu739Phe, XP_011541592.1:p.Leu740Phe, XP_005277591.1:p.Leu740Phe, XP_005277592.1:p.Leu739Phe, XP_005277593.1:p.Leu740Phe, XP_006714639.1:p.Leu740Phe, XP_005277596.1:p.Leu740Phe, XP_016864762.1:p.Leu739Phe, XP_006714640.1:p.Leu740Phe, XP_016864763.1:p.Leu740Phe, XP_005277598.1:p.Leu740Phe, XP_047272962.1:p.Leu739Phe, XP_047272963.1:p.Leu740Phe, XP_047272964.1:p.Leu739Phe, XP_047272965.1:p.Leu739Phe, XP_047272966.1:p.Leu739Phe, XP_047272967.1:p.Leu740Phe, XP_047272968.1:p.Leu739Phe, XP_047272969.1:p.Leu739Phe, XP_047272970.1:p.Leu739Phe

                                    18.

                                    rs1455793206 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      5:103146572 (GRCh38)
                                      5:102482276 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:103146571:A:C
                                      Gene:
                                      PPIP5K2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000005.10:g.103146572A>C, NC_000005.9:g.102482276A>C, NG_051568.1:g.31325A>C, NM_015216.5:c.533A>C, NM_015216.4:c.533A>C, NM_015216.3:c.533A>C, NM_001281471.3:c.533A>C, NM_001281471.2:c.533A>C, NM_001281471.1:c.533A>C, NM_001276277.3:c.533A>C, NM_001276277.2:c.533A>C, NM_001276277.1:c.533A>C, NM_001345873.2:c.533A>C, NM_001345873.1:c.533A>C, NM_001345872.2:c.533A>C, NM_001345872.1:c.533A>C, NM_001345871.2:c.533A>C, NM_001345871.1:c.533A>C, NM_001345876.2:c.533A>C, NM_001345876.1:c.533A>C, NM_001345878.2:c.533A>C, NM_001345878.1:c.533A>C, NM_001345874.2:c.533A>C, NM_001345874.1:c.533A>C, NM_001345875.2:c.533A>C, NM_001345875.1:c.533A>C, NM_001345877.2:c.533A>C, NM_001345877.1:c.533A>C, NW_003871061.1:g.61439A>C, XM_011543290.4:c.533A>C, XM_011543290.3:c.533A>C, XM_011543290.2:c.533A>C, XM_011543290.1:c.533A>C, XM_005277534.3:c.533A>C, XM_005277534.2:c.533A>C, XM_005277534.1:c.533A>C, XM_005277535.3:c.533A>C, XM_005277535.2:c.533A>C, XM_005277535.1:c.533A>C, XM_005277536.3:c.533A>C, XM_005277536.2:c.533A>C, XM_005277536.1:c.533A>C, XM_006714576.3:c.533A>C, XM_006714576.2:c.533A>C, XM_006714576.1:c.533A>C, XM_005277539.3:c.533A>C, XM_005277539.2:c.533A>C, XM_005277539.1:c.533A>C, XM_017009273.3:c.533A>C, XM_017009273.2:c.533A>C, XM_017009273.1:c.533A>C, XM_006714577.3:c.533A>C, XM_006714577.2:c.533A>C, XM_006714577.1:c.533A>C, XM_017009274.3:c.533A>C, XM_017009274.2:c.533A>C, XM_017009274.1:c.533A>C, XM_005277541.3:c.533A>C, XM_005277541.2:c.533A>C, XM_005277541.1:c.533A>C, XM_047417006.1:c.533A>C, XM_047417007.1:c.533A>C, XM_047417008.1:c.533A>C, XM_047417009.1:c.533A>C, XM_047417010.1:c.533A>C, XM_047417011.1:c.533A>C, XM_047417012.1:c.533A>C, XM_047417013.1:c.533A>C, XM_047417014.1:c.533A>C, NR_074081.1:n.1052A>C, NP_056031.2:p.Glu178Ala, NP_001268400.1:p.Glu178Ala, NP_001263206.1:p.Glu178Ala, NP_001332802.1:p.Glu178Ala, NP_001332801.1:p.Glu178Ala, NP_001332800.1:p.Glu178Ala, NP_001332805.1:p.Glu178Ala, NP_001332807.1:p.Glu178Ala, NP_001332803.1:p.Glu178Ala, NP_001332804.1:p.Glu178Ala, NP_001332806.1:p.Glu178Ala, XP_011541592.1:p.Glu178Ala, XP_005277591.1:p.Glu178Ala, XP_005277592.1:p.Glu178Ala, XP_005277593.1:p.Glu178Ala, XP_006714639.1:p.Glu178Ala, XP_005277596.1:p.Glu178Ala, XP_016864762.1:p.Glu178Ala, XP_006714640.1:p.Glu178Ala, XP_016864763.1:p.Glu178Ala, XP_005277598.1:p.Glu178Ala, XP_047272962.1:p.Glu178Ala, XP_047272963.1:p.Glu178Ala, XP_047272964.1:p.Glu178Ala, XP_047272965.1:p.Glu178Ala, XP_047272966.1:p.Glu178Ala, XP_047272967.1:p.Glu178Ala, XP_047272968.1:p.Glu178Ala, XP_047272969.1:p.Glu178Ala, XP_047272970.1:p.Glu178Ala

                                      19.

                                      rs1455299004 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        5:103194943 (GRCh38)
                                        5:102530644 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:103194942:A:G
                                        Gene:
                                        PPIP5K2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000005.10:g.103194943A>G, NC_000005.9:g.102530644A>G, NG_051568.1:g.79696A>G, NM_015216.5:c.3474A>G, NM_015216.4:c.3474A>G, NM_015216.3:c.3474A>G, NM_001281471.3:c.3642A>G, NM_001281471.2:c.3642A>G, NM_001281471.1:c.3642A>G, NM_001276277.3:c.3537A>G, NM_001276277.2:c.3537A>G, NM_001276277.1:c.3537A>G, NM_001345873.2:c.3534A>G, NM_001345873.1:c.3534A>G, NM_001345872.2:c.3408A>G, NM_001345872.1:c.3408A>G, NM_001345871.2:c.3363A>G, NM_001345871.1:c.3363A>G, NM_001345876.2:c.3354A>G, NM_001345876.1:c.3354A>G, NM_001345878.2:c.3351A>G, NM_001345878.1:c.3351A>G, NM_001345874.2:c.3300A>G, NM_001345874.1:c.3300A>G, NM_001345875.2:c.3180A>G, NM_001345875.1:c.3180A>G, NM_001345877.2:c.3177A>G, NM_001345877.1:c.3177A>G, NW_003871061.1:g.109810A>G, XM_005277534.3:c.3582A>G, XM_005277534.2:c.3582A>G, XM_005277534.1:c.3582A>G, XM_005277535.3:c.3579A>G, XM_005277535.2:c.3579A>G, XM_005277535.1:c.3579A>G, XM_005277536.3:c.3519A>G, XM_005277536.2:c.3519A>G, XM_005277536.1:c.3519A>G, XM_006714576.3:c.3462A>G, XM_006714576.2:c.3462A>G, XM_006714576.1:c.3462A>G, XM_005277539.3:c.3399A>G, XM_005277539.2:c.3399A>G, XM_005277539.1:c.3399A>G, XM_017009273.3:c.3297A>G, XM_017009273.2:c.3297A>G, XM_017009273.1:c.3297A>G, XM_006714577.3:c.3288A>G, XM_006714577.2:c.3288A>G, XM_006714577.1:c.3288A>G, XM_017009274.3:c.3243A>G, XM_017009274.2:c.3243A>G, XM_017009274.1:c.3243A>G, XM_005277541.3:c.3225A>G, XM_005277541.2:c.3225A>G, XM_005277541.1:c.3225A>G, XM_047417006.1:c.3471A>G, XM_047417007.1:c.3417A>G, XM_047417008.1:c.3405A>G, XM_047417009.1:c.3396A>G, XM_047417010.1:c.3360A>G, XM_047417011.1:c.3345A>G, XM_047417012.1:c.3342A>G, XM_047417013.1:c.3240A>G, XM_047417014.1:c.3222A>G, NR_074081.1:n.4160A>G

                                        20.

                                        rs1454007829 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:103177713 (GRCh38)
                                          5:102513414 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:103177712:T:C
                                          Gene:
                                          PPIP5K2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000005.10:g.103177713T>C, NW_003871061.1:g.92580T>C, NG_051568.1:g.62466T>C, NM_015216.5:c.2576T>C, NM_015216.4:c.2576T>C, NM_015216.3:c.2576T>C, NM_001281471.3:c.2621T>C, NM_001281471.2:c.2621T>C, NM_001281471.1:c.2621T>C, NM_001276277.3:c.2576T>C, NM_001276277.2:c.2576T>C, NM_001276277.1:c.2576T>C, NM_001345873.2:c.2573T>C, NM_001345873.1:c.2573T>C, NM_001345872.2:c.2621T>C, NM_001345872.1:c.2621T>C, NM_001345871.2:c.2576T>C, NM_001345871.1:c.2576T>C, NM_001345876.2:c.2576T>C, NM_001345876.1:c.2576T>C, NM_001345878.2:c.2573T>C, NM_001345878.1:c.2573T>C, NM_001345874.2:c.2576T>C, NM_001345874.1:c.2576T>C, NM_001345875.2:c.2576T>C, NM_001345875.1:c.2576T>C, NM_001345877.2:c.2573T>C, NM_001345877.1:c.2573T>C, NC_000005.9:g.102513414T>C, XM_011543290.4:c.2621T>C, XM_011543290.3:c.2621T>C, XM_011543290.2:c.2621T>C, XM_011543290.1:c.2621T>C, XM_005277534.3:c.2621T>C, XM_005277534.2:c.2621T>C, XM_005277534.1:c.2621T>C, XM_005277535.3:c.2618T>C, XM_005277535.2:c.2618T>C, XM_005277535.1:c.2618T>C, XM_005277536.3:c.2621T>C, XM_005277536.2:c.2621T>C, XM_005277536.1:c.2621T>C, XM_006714576.3:c.2621T>C, XM_006714576.2:c.2621T>C, XM_006714576.1:c.2621T>C, XM_005277539.3:c.2621T>C, XM_005277539.2:c.2621T>C, XM_005277539.1:c.2621T>C, XM_017009273.3:c.2573T>C, XM_017009273.2:c.2573T>C, XM_017009273.1:c.2573T>C, XM_006714577.3:c.2621T>C, XM_006714577.2:c.2621T>C, XM_006714577.1:c.2621T>C, XM_017009274.3:c.2576T>C, XM_017009274.2:c.2576T>C, XM_017009274.1:c.2576T>C, XM_005277541.3:c.2621T>C, XM_005277541.2:c.2621T>C, XM_005277541.1:c.2621T>C, XM_047417006.1:c.2573T>C, XM_047417007.1:c.2576T>C, XM_047417008.1:c.2618T>C, XM_047417009.1:c.2618T>C, XM_047417010.1:c.2573T>C, XM_047417011.1:c.2621T>C, XM_047417012.1:c.2618T>C, XM_047417013.1:c.2573T>C, XM_047417014.1:c.2618T>C, NR_074081.1:n.3139T>C, NP_056031.2:p.Val859Ala, NP_001268400.1:p.Val874Ala, NP_001263206.1:p.Val859Ala, NP_001332802.1:p.Val858Ala, NP_001332801.1:p.Val874Ala, NP_001332800.1:p.Val859Ala, NP_001332805.1:p.Val859Ala, NP_001332807.1:p.Val858Ala, NP_001332803.1:p.Val859Ala, NP_001332804.1:p.Val859Ala, NP_001332806.1:p.Val858Ala, XP_011541592.1:p.Val874Ala, XP_005277591.1:p.Val874Ala, XP_005277592.1:p.Val873Ala, XP_005277593.1:p.Val874Ala, XP_006714639.1:p.Val874Ala, XP_005277596.1:p.Val874Ala, XP_016864762.1:p.Val858Ala, XP_006714640.1:p.Val874Ala, XP_016864763.1:p.Val859Ala, XP_005277598.1:p.Val874Ala, XP_047272962.1:p.Val858Ala, XP_047272963.1:p.Val859Ala, XP_047272964.1:p.Val873Ala, XP_047272965.1:p.Val873Ala, XP_047272966.1:p.Val858Ala, XP_047272967.1:p.Val874Ala, XP_047272968.1:p.Val873Ala, XP_047272969.1:p.Val858Ala, XP_047272970.1:p.Val873Ala

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