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Items: 1 to 20 of 460

1.

rs1488956772 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    1:151242261 (GRCh38)
    1:151214737 (GRCh37)
    Canonical SPDI:
    NC_000001.11:151242260:T:C
    Gene:
    PIP5K1A (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0./0 (GnomAD)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000312/2 (1000Genomes)
    HGVS:
    NC_000001.11:g.151242261T>C, NC_000001.10:g.151214737T>C, XM_005245530.6:c.1478T>C, XM_005245530.5:c.1478T>C, XM_005245530.4:c.1478T>C, XM_005245530.3:c.1478T>C, XM_005245530.2:c.1478T>C, XM_005245530.1:c.1478T>C, XM_005245525.6:c.1532T>C, XM_005245525.5:c.1532T>C, XM_005245525.4:c.1532T>C, XM_005245525.3:c.1532T>C, XM_005245525.2:c.1532T>C, XM_005245525.1:c.1532T>C, XM_005245528.6:c.1496T>C, XM_005245528.5:c.1496T>C, XM_005245528.4:c.1496T>C, XM_005245528.3:c.1496T>C, XM_005245528.2:c.1496T>C, XM_005245528.1:c.1496T>C, XM_005245532.5:c.1442T>C, XM_005245532.4:c.1442T>C, XM_005245532.3:c.1442T>C, XM_005245532.2:c.1442T>C, XM_005245532.1:c.1442T>C, XM_006711567.5:c.1394T>C, XM_006711567.4:c.1394T>C, XM_006711567.3:c.1394T>C, XM_006711567.2:c.1394T>C, XM_006711567.1:c.1394T>C, XM_006711563.5:c.1538T>C, XM_006711563.4:c.1538T>C, XM_006711563.3:c.1538T>C, XM_006711563.2:c.1538T>C, XM_006711563.1:c.1538T>C, XM_006711564.5:c.1502T>C, XM_006711564.4:c.1502T>C, XM_006711564.3:c.1502T>C, XM_006711564.2:c.1502T>C, XM_006711564.1:c.1502T>C, XM_005245527.5:c.1499T>C, XM_005245527.4:c.1499T>C, XM_005245527.3:c.1499T>C, XM_005245527.2:c.1499T>C, XM_005245527.1:c.1499T>C, XM_006711568.5:c.1517T>C, XM_006711568.4:c.1517T>C, XM_006711568.3:c.1517T>C, XM_006711568.2:c.1517T>C, XM_006711568.1:c.1394T>C, XM_011510045.4:c.1475T>C, XM_011510045.3:c.1475T>C, XM_011510045.2:c.1475T>C, XM_011510045.1:c.1475T>C, XM_011510046.4:c.1439T>C, XM_011510046.3:c.1439T>C, XM_011510046.2:c.1439T>C, XM_011510046.1:c.1439T>C, XM_011510049.4:c.1394T>C, XM_011510049.3:c.1394T>C, XM_011510049.2:c.1394T>C, XM_011510049.1:c.1394T>C, XM_011510043.4:c.1481T>C, XM_011510043.3:c.1481T>C, XM_011510043.2:c.1481T>C, XM_011510043.1:c.1481T>C, NM_003557.3:c.1463T>C, NM_003557.2:c.1463T>C, XM_024450131.2:c.1358T>C, XM_024450131.1:c.1358T>C, NM_001135638.2:c.1502T>C, NM_001135638.1:c.1502T>C, XM_024450129.2:c.1514T>C, XM_024450129.1:c.1514T>C, NM_001330689.2:c.1466T>C, NM_001330689.1:c.1466T>C, NM_001135636.2:c.1382T>C, NM_001135636.1:c.1382T>C, XM_024450130.2:c.1478T>C, XM_024450130.1:c.1478T>C, XM_047431682.1:c.1394T>C, XM_047431698.1:c.1358T>C, XM_047431694.1:c.1358T>C, XM_047431635.1:c.1529T>C, XM_047431651.1:c.1493T>C, XM_047431701.1:c.1358T>C, XM_047431702.1:c.1355T>C, XM_047431638.1:c.1517T>C, XM_047431673.1:c.1454T>C, XM_047431658.1:c.1481T>C, XM_047431677.1:c.1418T>C, XM_047431675.1:c.1418T>C, XM_047431681.1:c.1397T>C, XM_047431679.1:c.1415T>C, XM_047431687.1:c.1379T>C, XM_047431657.1:c.1481T>C, XM_047431670.1:c.1478T>C, XP_005245587.1:p.Val493Ala, XP_005245582.1:p.Val511Ala, XP_005245585.1:p.Val499Ala, XP_005245589.1:p.Val481Ala, XP_006711630.1:p.Val465Ala, XP_006711626.1:p.Val513Ala, XP_006711627.1:p.Val501Ala, XP_005245584.1:p.Val500Ala, XP_006711631.2:p.Val506Ala, XP_011508347.1:p.Val492Ala, XP_011508348.1:p.Val480Ala, XP_011508351.1:p.Val465Ala, XP_011508345.1:p.Val494Ala, NP_003548.1:p.Val488Ala, XP_024305899.1:p.Val453Ala, NP_001129110.1:p.Val501Ala, XP_024305897.1:p.Val505Ala, NP_001317618.1:p.Val489Ala, NP_001129108.1:p.Val461Ala, XP_024305898.1:p.Val493Ala, XP_047287638.1:p.Val465Ala, XP_047287654.1:p.Val453Ala, XP_047287650.1:p.Val453Ala, XP_047287591.1:p.Val510Ala, XP_047287607.1:p.Val498Ala, XP_047287657.1:p.Val453Ala, XP_047287658.1:p.Val452Ala, XP_047287594.1:p.Val506Ala, XP_047287629.1:p.Val485Ala, XP_047287614.1:p.Val494Ala, XP_047287633.1:p.Val473Ala, XP_047287631.1:p.Val473Ala, XP_047287637.1:p.Val466Ala, XP_047287635.1:p.Val472Ala, XP_047287643.1:p.Val460Ala, XP_047287613.1:p.Val494Ala, XP_047287626.1:p.Val493Ala

    2.

    rs1483393459 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:151234456 (GRCh38)
      1:151206932 (GRCh37)
      Canonical SPDI:
      NC_000001.11:151234455:T:C
      Gene:
      PIP5K1A (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000001.11:g.151234456T>C, NC_000001.10:g.151206932T>C, XM_005245530.6:c.875T>C, XM_005245530.5:c.875T>C, XM_005245530.4:c.875T>C, XM_005245530.3:c.875T>C, XM_005245530.2:c.875T>C, XM_005245530.1:c.875T>C, XM_005245525.6:c.929T>C, XM_005245525.5:c.929T>C, XM_005245525.4:c.929T>C, XM_005245525.3:c.929T>C, XM_005245525.2:c.929T>C, XM_005245525.1:c.929T>C, XM_005245528.6:c.893T>C, XM_005245528.5:c.893T>C, XM_005245528.4:c.893T>C, XM_005245528.3:c.893T>C, XM_005245528.2:c.893T>C, XM_005245528.1:c.893T>C, XM_005245532.5:c.839T>C, XM_005245532.4:c.839T>C, XM_005245532.3:c.839T>C, XM_005245532.2:c.839T>C, XM_005245532.1:c.839T>C, XM_006711567.5:c.791T>C, XM_006711567.4:c.791T>C, XM_006711567.3:c.791T>C, XM_006711567.2:c.791T>C, XM_006711567.1:c.791T>C, XM_006711563.5:c.935T>C, XM_006711563.4:c.935T>C, XM_006711563.3:c.935T>C, XM_006711563.2:c.935T>C, XM_006711563.1:c.935T>C, XM_006711564.5:c.899T>C, XM_006711564.4:c.899T>C, XM_006711564.3:c.899T>C, XM_006711564.2:c.899T>C, XM_006711564.1:c.899T>C, XM_005245527.5:c.896T>C, XM_005245527.4:c.896T>C, XM_005245527.3:c.896T>C, XM_005245527.2:c.896T>C, XM_005245527.1:c.896T>C, XM_006711568.5:c.914T>C, XM_006711568.4:c.914T>C, XM_006711568.3:c.914T>C, XM_006711568.2:c.914T>C, XM_006711568.1:c.791T>C, XM_011510045.4:c.872T>C, XM_011510045.3:c.872T>C, XM_011510045.2:c.872T>C, XM_011510045.1:c.872T>C, XM_011510046.4:c.836T>C, XM_011510046.3:c.836T>C, XM_011510046.2:c.836T>C, XM_011510046.1:c.836T>C, XM_011510049.4:c.791T>C, XM_011510049.3:c.791T>C, XM_011510049.2:c.791T>C, XM_011510049.1:c.791T>C, XM_011510043.4:c.878T>C, XM_011510043.3:c.878T>C, XM_011510043.2:c.878T>C, XM_011510043.1:c.878T>C, NM_003557.3:c.860T>C, NM_003557.2:c.860T>C, XM_024450131.2:c.755T>C, XM_024450131.1:c.755T>C, NM_001135638.2:c.899T>C, NM_001135638.1:c.899T>C, XM_024450129.2:c.911T>C, XM_024450129.1:c.911T>C, NM_001330689.2:c.863T>C, NM_001330689.1:c.863T>C, NM_001135636.2:c.863T>C, NM_001135636.1:c.863T>C, NM_001135637.2:c.860T>C, NM_001135637.1:c.860T>C, XM_024450130.2:c.875T>C, XM_024450130.1:c.875T>C, XM_017002439.2:c.863T>C, XM_017002439.1:c.863T>C, XM_017002440.2:c.860T>C, XM_017002440.1:c.860T>C, XM_047431682.1:c.791T>C, XM_047431698.1:c.755T>C, XM_047431694.1:c.755T>C, XM_047431635.1:c.926T>C, XM_047431651.1:c.890T>C, XM_047431701.1:c.839T>C, XM_047431702.1:c.836T>C, XM_047431638.1:c.914T>C, XM_047431673.1:c.935T>C, XM_047431658.1:c.878T>C, XM_047431677.1:c.899T>C, XM_047431675.1:c.899T>C, XM_047431681.1:c.878T>C, XM_047431679.1:c.896T>C, XM_047431687.1:c.860T>C, XM_047431709.1:c.875T>C, XM_047431710.1:c.872T>C, XM_047431712.1:c.839T>C, XM_047431720.1:c.836T>C, XM_047431657.1:c.878T>C, XM_047431670.1:c.875T>C, XM_047431704.1:c.899T>C, XM_047431703.1:c.899T>C, XM_047431706.1:c.896T>C, XM_047431732.1:c.836T>C, XM_047431726.1:c.896T>C, XM_047431729.1:c.863T>C, XM_047431730.1:c.860T>C, XP_005245587.1:p.Met292Thr, XP_005245582.1:p.Met310Thr, XP_005245585.1:p.Met298Thr, XP_005245589.1:p.Met280Thr, XP_006711630.1:p.Met264Thr, XP_006711626.1:p.Met312Thr, XP_006711627.1:p.Met300Thr, XP_005245584.1:p.Met299Thr, XP_006711631.2:p.Met305Thr, XP_011508347.1:p.Met291Thr, XP_011508348.1:p.Met279Thr, XP_011508351.1:p.Met264Thr, XP_011508345.1:p.Met293Thr, NP_003548.1:p.Met287Thr, XP_024305899.1:p.Met252Thr, NP_001129110.1:p.Met300Thr, XP_024305897.1:p.Met304Thr, NP_001317618.1:p.Met288Thr, NP_001129108.1:p.Met288Thr, NP_001129109.1:p.Met287Thr, XP_024305898.1:p.Met292Thr, XP_016857928.1:p.Met288Thr, XP_016857929.1:p.Met287Thr, XP_047287638.1:p.Met264Thr, XP_047287654.1:p.Met252Thr, XP_047287650.1:p.Met252Thr, XP_047287591.1:p.Met309Thr, XP_047287607.1:p.Met297Thr, XP_047287657.1:p.Met280Thr, XP_047287658.1:p.Met279Thr, XP_047287594.1:p.Met305Thr, XP_047287629.1:p.Met312Thr, XP_047287614.1:p.Met293Thr, XP_047287633.1:p.Met300Thr, XP_047287631.1:p.Met300Thr, XP_047287637.1:p.Met293Thr, XP_047287635.1:p.Met299Thr, XP_047287643.1:p.Met287Thr, XP_047287665.1:p.Met292Thr, XP_047287666.1:p.Met291Thr, XP_047287668.1:p.Met280Thr, XP_047287676.1:p.Met279Thr, XP_047287613.1:p.Met293Thr, XP_047287626.1:p.Met292Thr, XP_047287660.1:p.Met300Thr, XP_047287659.1:p.Met300Thr, XP_047287662.1:p.Met299Thr, XP_047287688.1:p.Met279Thr, XP_047287682.1:p.Met299Thr, XP_047287685.1:p.Met288Thr, XP_047287686.1:p.Met287Thr

      3.

      rs1480323915 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        1:151232286 (GRCh38)
        1:151204762 (GRCh37)
        Canonical SPDI:
        NC_000001.11:151232285:A:C,NC_000001.11:151232285:A:G
        Gene:
        PIP5K1A (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)
        HGVS:
        NC_000001.11:g.151232286A>C, NC_000001.11:g.151232286A>G, NC_000001.10:g.151204762A>C, NC_000001.10:g.151204762A>G, XM_005245530.6:c.383A>C, XM_005245530.6:c.383A>G, XM_005245530.5:c.383A>C, XM_005245530.5:c.383A>G, XM_005245530.4:c.383A>C, XM_005245530.4:c.383A>G, XM_005245530.3:c.383A>C, XM_005245530.3:c.383A>G, XM_005245530.2:c.383A>C, XM_005245530.2:c.383A>G, XM_005245530.1:c.383A>C, XM_005245530.1:c.383A>G, XM_005245525.6:c.437A>C, XM_005245525.6:c.437A>G, XM_005245525.5:c.437A>C, XM_005245525.5:c.437A>G, XM_005245525.4:c.437A>C, XM_005245525.4:c.437A>G, XM_005245525.3:c.437A>C, XM_005245525.3:c.437A>G, XM_005245525.2:c.437A>C, XM_005245525.2:c.437A>G, XM_005245525.1:c.437A>C, XM_005245525.1:c.437A>G, XM_005245528.6:c.401A>C, XM_005245528.6:c.401A>G, XM_005245528.5:c.401A>C, XM_005245528.5:c.401A>G, XM_005245528.4:c.401A>C, XM_005245528.4:c.401A>G, XM_005245528.3:c.401A>C, XM_005245528.3:c.401A>G, XM_005245528.2:c.401A>C, XM_005245528.2:c.401A>G, XM_005245528.1:c.401A>C, XM_005245528.1:c.401A>G, XM_005245532.5:c.347A>C, XM_005245532.5:c.347A>G, XM_005245532.4:c.347A>C, XM_005245532.4:c.347A>G, XM_005245532.3:c.347A>C, XM_005245532.3:c.347A>G, XM_005245532.2:c.347A>C, XM_005245532.2:c.347A>G, XM_005245532.1:c.347A>C, XM_005245532.1:c.347A>G, XM_006711567.5:c.299A>C, XM_006711567.5:c.299A>G, XM_006711567.4:c.299A>C, XM_006711567.4:c.299A>G, XM_006711567.3:c.299A>C, XM_006711567.3:c.299A>G, XM_006711567.2:c.299A>C, XM_006711567.2:c.299A>G, XM_006711567.1:c.299A>C, XM_006711567.1:c.299A>G, XM_006711563.5:c.443A>C, XM_006711563.5:c.443A>G, XM_006711563.4:c.443A>C, XM_006711563.4:c.443A>G, XM_006711563.3:c.443A>C, XM_006711563.3:c.443A>G, XM_006711563.2:c.443A>C, XM_006711563.2:c.443A>G, XM_006711563.1:c.443A>C, XM_006711563.1:c.443A>G, XM_006711564.5:c.407A>C, XM_006711564.5:c.407A>G, XM_006711564.4:c.407A>C, XM_006711564.4:c.407A>G, XM_006711564.3:c.407A>C, XM_006711564.3:c.407A>G, XM_006711564.2:c.407A>C, XM_006711564.2:c.407A>G, XM_006711564.1:c.407A>C, XM_006711564.1:c.407A>G, XM_005245527.5:c.404A>C, XM_005245527.5:c.404A>G, XM_005245527.4:c.404A>C, XM_005245527.4:c.404A>G, XM_005245527.3:c.404A>C, XM_005245527.3:c.404A>G, XM_005245527.2:c.404A>C, XM_005245527.2:c.404A>G, XM_005245527.1:c.404A>C, XM_005245527.1:c.404A>G, XM_006711568.5:c.422A>C, XM_006711568.5:c.422A>G, XM_006711568.4:c.422A>C, XM_006711568.4:c.422A>G, XM_006711568.3:c.422A>C, XM_006711568.3:c.422A>G, XM_006711568.2:c.422A>C, XM_006711568.2:c.422A>G, XM_006711568.1:c.299A>C, XM_006711568.1:c.299A>G, XM_011510045.4:c.380A>C, XM_011510045.4:c.380A>G, XM_011510045.3:c.380A>C, XM_011510045.3:c.380A>G, XM_011510045.2:c.380A>C, XM_011510045.2:c.380A>G, XM_011510045.1:c.380A>C, XM_011510045.1:c.380A>G, XM_011510046.4:c.344A>C, XM_011510046.4:c.344A>G, XM_011510046.3:c.344A>C, XM_011510046.3:c.344A>G, XM_011510046.2:c.344A>C, XM_011510046.2:c.344A>G, XM_011510046.1:c.344A>C, XM_011510046.1:c.344A>G, XM_011510049.4:c.299A>C, XM_011510049.4:c.299A>G, XM_011510049.3:c.299A>C, XM_011510049.3:c.299A>G, XM_011510049.2:c.299A>C, XM_011510049.2:c.299A>G, XM_011510049.1:c.299A>C, XM_011510049.1:c.299A>G, XM_011510043.4:c.386A>C, XM_011510043.4:c.386A>G, XM_011510043.3:c.386A>C, XM_011510043.3:c.386A>G, XM_011510043.2:c.386A>C, XM_011510043.2:c.386A>G, XM_011510043.1:c.386A>C, XM_011510043.1:c.386A>G, NM_003557.3:c.368A>C, NM_003557.3:c.368A>G, NM_003557.2:c.368A>C, NM_003557.2:c.368A>G, XM_024450131.2:c.263A>C, XM_024450131.2:c.263A>G, XM_024450131.1:c.263A>C, XM_024450131.1:c.263A>G, NM_001135638.2:c.407A>C, NM_001135638.2:c.407A>G, NM_001135638.1:c.407A>C, NM_001135638.1:c.407A>G, XM_024450129.2:c.419A>C, XM_024450129.2:c.419A>G, XM_024450129.1:c.419A>C, XM_024450129.1:c.419A>G, NM_001330689.2:c.371A>C, NM_001330689.2:c.371A>G, NM_001330689.1:c.371A>C, NM_001330689.1:c.371A>G, NM_001135636.2:c.371A>C, NM_001135636.2:c.371A>G, NM_001135636.1:c.371A>C, NM_001135636.1:c.371A>G, NM_001135637.2:c.368A>C, NM_001135637.2:c.368A>G, NM_001135637.1:c.368A>C, NM_001135637.1:c.368A>G, XM_024450130.2:c.383A>C, XM_024450130.2:c.383A>G, XM_024450130.1:c.383A>C, XM_024450130.1:c.383A>G, XM_017002439.2:c.371A>C, XM_017002439.2:c.371A>G, XM_017002439.1:c.371A>C, XM_017002439.1:c.371A>G, XM_017002440.2:c.368A>C, XM_017002440.2:c.368A>G, XM_017002440.1:c.368A>C, XM_017002440.1:c.368A>G, XM_047431682.1:c.299A>C, XM_047431682.1:c.299A>G, XM_047431698.1:c.263A>C, XM_047431698.1:c.263A>G, XM_047431694.1:c.263A>C, XM_047431694.1:c.263A>G, XM_047431635.1:c.434A>C, XM_047431635.1:c.434A>G, XM_047431651.1:c.398A>C, XM_047431651.1:c.398A>G, XM_047431701.1:c.347A>C, XM_047431701.1:c.347A>G, XM_047431702.1:c.344A>C, XM_047431702.1:c.344A>G, XM_047431638.1:c.422A>C, XM_047431638.1:c.422A>G, XM_047431673.1:c.443A>C, XM_047431673.1:c.443A>G, XM_047431658.1:c.386A>C, XM_047431658.1:c.386A>G, XM_047431677.1:c.407A>C, XM_047431677.1:c.407A>G, XM_047431675.1:c.407A>C, XM_047431675.1:c.407A>G, XM_047431681.1:c.386A>C, XM_047431681.1:c.386A>G, XM_047431679.1:c.404A>C, XM_047431679.1:c.404A>G, XM_047431687.1:c.368A>C, XM_047431687.1:c.368A>G, XM_047431709.1:c.383A>C, XM_047431709.1:c.383A>G, XM_047431710.1:c.380A>C, XM_047431710.1:c.380A>G, XM_047431712.1:c.347A>C, XM_047431712.1:c.347A>G, XM_047431720.1:c.344A>C, XM_047431720.1:c.344A>G, XM_047431657.1:c.386A>C, XM_047431657.1:c.386A>G, XM_047431670.1:c.383A>C, XM_047431670.1:c.383A>G, XM_047431704.1:c.407A>C, XM_047431704.1:c.407A>G, XM_047431703.1:c.407A>C, XM_047431703.1:c.407A>G, XM_047431706.1:c.404A>C, XM_047431706.1:c.404A>G, XM_047431732.1:c.344A>C, XM_047431732.1:c.344A>G, XM_047431726.1:c.404A>C, XM_047431726.1:c.404A>G, XM_047431729.1:c.371A>C, XM_047431729.1:c.371A>G, XM_047431730.1:c.368A>C, XM_047431730.1:c.368A>G, XP_005245587.1:p.Asp128Ala, XP_005245587.1:p.Asp128Gly, XP_005245582.1:p.Asp146Ala, XP_005245582.1:p.Asp146Gly, XP_005245585.1:p.Asp134Ala, XP_005245585.1:p.Asp134Gly, XP_005245589.1:p.Asp116Ala, XP_005245589.1:p.Asp116Gly, XP_006711630.1:p.Asp100Ala, XP_006711630.1:p.Asp100Gly, XP_006711626.1:p.Asp148Ala, XP_006711626.1:p.Asp148Gly, XP_006711627.1:p.Asp136Ala, XP_006711627.1:p.Asp136Gly, XP_005245584.1:p.Asp135Ala, XP_005245584.1:p.Asp135Gly, XP_006711631.2:p.Asp141Ala, XP_006711631.2:p.Asp141Gly, XP_011508347.1:p.Asp127Ala, XP_011508347.1:p.Asp127Gly, XP_011508348.1:p.Asp115Ala, XP_011508348.1:p.Asp115Gly, XP_011508351.1:p.Asp100Ala, XP_011508351.1:p.Asp100Gly, XP_011508345.1:p.Asp129Ala, XP_011508345.1:p.Asp129Gly, NP_003548.1:p.Asp123Ala, NP_003548.1:p.Asp123Gly, XP_024305899.1:p.Asp88Ala, XP_024305899.1:p.Asp88Gly, NP_001129110.1:p.Asp136Ala, NP_001129110.1:p.Asp136Gly, XP_024305897.1:p.Asp140Ala, XP_024305897.1:p.Asp140Gly, NP_001317618.1:p.Asp124Ala, NP_001317618.1:p.Asp124Gly, NP_001129108.1:p.Asp124Ala, NP_001129108.1:p.Asp124Gly, NP_001129109.1:p.Asp123Ala, NP_001129109.1:p.Asp123Gly, XP_024305898.1:p.Asp128Ala, XP_024305898.1:p.Asp128Gly, XP_016857928.1:p.Asp124Ala, XP_016857928.1:p.Asp124Gly, XP_016857929.1:p.Asp123Ala, XP_016857929.1:p.Asp123Gly, XP_047287638.1:p.Asp100Ala, XP_047287638.1:p.Asp100Gly, XP_047287654.1:p.Asp88Ala, XP_047287654.1:p.Asp88Gly, XP_047287650.1:p.Asp88Ala, XP_047287650.1:p.Asp88Gly, XP_047287591.1:p.Asp145Ala, XP_047287591.1:p.Asp145Gly, XP_047287607.1:p.Asp133Ala, XP_047287607.1:p.Asp133Gly, XP_047287657.1:p.Asp116Ala, XP_047287657.1:p.Asp116Gly, XP_047287658.1:p.Asp115Ala, XP_047287658.1:p.Asp115Gly, XP_047287594.1:p.Asp141Ala, XP_047287594.1:p.Asp141Gly, XP_047287629.1:p.Asp148Ala, XP_047287629.1:p.Asp148Gly, XP_047287614.1:p.Asp129Ala, XP_047287614.1:p.Asp129Gly, XP_047287633.1:p.Asp136Ala, XP_047287633.1:p.Asp136Gly, XP_047287631.1:p.Asp136Ala, XP_047287631.1:p.Asp136Gly, XP_047287637.1:p.Asp129Ala, XP_047287637.1:p.Asp129Gly, XP_047287635.1:p.Asp135Ala, XP_047287635.1:p.Asp135Gly, XP_047287643.1:p.Asp123Ala, XP_047287643.1:p.Asp123Gly, XP_047287665.1:p.Asp128Ala, XP_047287665.1:p.Asp128Gly, XP_047287666.1:p.Asp127Ala, XP_047287666.1:p.Asp127Gly, XP_047287668.1:p.Asp116Ala, XP_047287668.1:p.Asp116Gly, XP_047287676.1:p.Asp115Ala, XP_047287676.1:p.Asp115Gly, XP_047287613.1:p.Asp129Ala, XP_047287613.1:p.Asp129Gly, XP_047287626.1:p.Asp128Ala, XP_047287626.1:p.Asp128Gly, XP_047287660.1:p.Asp136Ala, XP_047287660.1:p.Asp136Gly, XP_047287659.1:p.Asp136Ala, XP_047287659.1:p.Asp136Gly, XP_047287662.1:p.Asp135Ala, XP_047287662.1:p.Asp135Gly, XP_047287688.1:p.Asp115Ala, XP_047287688.1:p.Asp115Gly, XP_047287682.1:p.Asp135Ala, XP_047287682.1:p.Asp135Gly, XP_047287685.1:p.Asp124Ala, XP_047287685.1:p.Asp124Gly, XP_047287686.1:p.Asp123Ala, XP_047287686.1:p.Asp123Gly

        4.

        rs1476215546 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          1:151227372 (GRCh38)
          1:151199848 (GRCh37)
          Canonical SPDI:
          NC_000001.11:151227371:A:C
          Gene:
          PIP5K1A (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.151227372A>C, NC_000001.10:g.151199848A>C, XM_005245530.6:c.185A>C, XM_005245530.5:c.185A>C, XM_005245530.4:c.185A>C, XM_005245530.3:c.185A>C, XM_005245530.2:c.185A>C, XM_005245530.1:c.185A>C, XM_005245525.6:c.239A>C, XM_005245525.5:c.239A>C, XM_005245525.4:c.239A>C, XM_005245525.3:c.239A>C, XM_005245525.2:c.239A>C, XM_005245525.1:c.239A>C, XM_005245528.6:c.203A>C, XM_005245528.5:c.203A>C, XM_005245528.4:c.203A>C, XM_005245528.3:c.203A>C, XM_005245528.2:c.203A>C, XM_005245528.1:c.203A>C, XM_005245532.5:c.149A>C, XM_005245532.4:c.149A>C, XM_005245532.3:c.149A>C, XM_005245532.2:c.149A>C, XM_005245532.1:c.149A>C, XM_006711567.5:c.101A>C, XM_006711567.4:c.101A>C, XM_006711567.3:c.101A>C, XM_006711567.2:c.101A>C, XM_006711567.1:c.101A>C, XM_006711563.5:c.245A>C, XM_006711563.4:c.245A>C, XM_006711563.3:c.245A>C, XM_006711563.2:c.245A>C, XM_006711563.1:c.245A>C, XM_006711564.5:c.209A>C, XM_006711564.4:c.209A>C, XM_006711564.3:c.209A>C, XM_006711564.2:c.209A>C, XM_006711564.1:c.209A>C, XM_005245527.5:c.206A>C, XM_005245527.4:c.206A>C, XM_005245527.3:c.206A>C, XM_005245527.2:c.206A>C, XM_005245527.1:c.206A>C, XM_006711568.5:c.224A>C, XM_006711568.4:c.224A>C, XM_006711568.3:c.224A>C, XM_006711568.2:c.224A>C, XM_006711568.1:c.101A>C, XM_011510045.4:c.182A>C, XM_011510045.3:c.182A>C, XM_011510045.2:c.182A>C, XM_011510045.1:c.182A>C, XM_011510046.4:c.146A>C, XM_011510046.3:c.146A>C, XM_011510046.2:c.146A>C, XM_011510046.1:c.146A>C, XM_011510049.4:c.101A>C, XM_011510049.3:c.101A>C, XM_011510049.2:c.101A>C, XM_011510049.1:c.101A>C, XM_011510043.4:c.188A>C, XM_011510043.3:c.188A>C, XM_011510043.2:c.188A>C, XM_011510043.1:c.188A>C, NM_003557.3:c.170A>C, NM_003557.2:c.170A>C, XM_024450131.2:c.65A>C, XM_024450131.1:c.65A>C, NM_001135638.2:c.209A>C, NM_001135638.1:c.209A>C, XM_024450129.2:c.221A>C, XM_024450129.1:c.221A>C, NM_001330689.2:c.173A>C, NM_001330689.1:c.173A>C, NM_001135636.2:c.173A>C, NM_001135636.1:c.173A>C, NM_001135637.2:c.170A>C, NM_001135637.1:c.170A>C, XM_024450130.2:c.185A>C, XM_024450130.1:c.185A>C, XM_017002439.2:c.173A>C, XM_017002439.1:c.173A>C, XM_017002440.2:c.170A>C, XM_017002440.1:c.170A>C, XM_047431682.1:c.101A>C, XM_047431698.1:c.65A>C, XM_047431694.1:c.65A>C, XM_047431635.1:c.236A>C, XM_047431651.1:c.200A>C, XM_047431701.1:c.149A>C, XM_047431702.1:c.146A>C, XM_047431638.1:c.224A>C, XM_047431673.1:c.245A>C, XM_047431658.1:c.188A>C, XM_047431677.1:c.209A>C, XM_047431675.1:c.209A>C, XM_047431681.1:c.188A>C, XM_047431679.1:c.206A>C, XM_047431687.1:c.170A>C, XM_047431709.1:c.185A>C, XM_047431710.1:c.182A>C, XM_047431712.1:c.149A>C, XM_047431720.1:c.146A>C, XM_047431657.1:c.188A>C, XM_047431670.1:c.185A>C, XM_047431704.1:c.209A>C, XM_047431703.1:c.209A>C, XM_047431706.1:c.206A>C, XM_047431732.1:c.146A>C, XM_047431726.1:c.206A>C, XM_047431729.1:c.173A>C, XM_047431730.1:c.170A>C, XP_005245587.1:p.Asp62Ala, XP_005245582.1:p.Asp80Ala, XP_005245585.1:p.Asp68Ala, XP_005245589.1:p.Asp50Ala, XP_006711630.1:p.Asp34Ala, XP_006711626.1:p.Asp82Ala, XP_006711627.1:p.Asp70Ala, XP_005245584.1:p.Asp69Ala, XP_006711631.2:p.Asp75Ala, XP_011508347.1:p.Asp61Ala, XP_011508348.1:p.Asp49Ala, XP_011508351.1:p.Asp34Ala, XP_011508345.1:p.Asp63Ala, NP_003548.1:p.Asp57Ala, XP_024305899.1:p.Asp22Ala, NP_001129110.1:p.Asp70Ala, XP_024305897.1:p.Asp74Ala, NP_001317618.1:p.Asp58Ala, NP_001129108.1:p.Asp58Ala, NP_001129109.1:p.Asp57Ala, XP_024305898.1:p.Asp62Ala, XP_016857928.1:p.Asp58Ala, XP_016857929.1:p.Asp57Ala, XP_047287638.1:p.Asp34Ala, XP_047287654.1:p.Asp22Ala, XP_047287650.1:p.Asp22Ala, XP_047287591.1:p.Asp79Ala, XP_047287607.1:p.Asp67Ala, XP_047287657.1:p.Asp50Ala, XP_047287658.1:p.Asp49Ala, XP_047287594.1:p.Asp75Ala, XP_047287629.1:p.Asp82Ala, XP_047287614.1:p.Asp63Ala, XP_047287633.1:p.Asp70Ala, XP_047287631.1:p.Asp70Ala, XP_047287637.1:p.Asp63Ala, XP_047287635.1:p.Asp69Ala, XP_047287643.1:p.Asp57Ala, XP_047287665.1:p.Asp62Ala, XP_047287666.1:p.Asp61Ala, XP_047287668.1:p.Asp50Ala, XP_047287676.1:p.Asp49Ala, XP_047287613.1:p.Asp63Ala, XP_047287626.1:p.Asp62Ala, XP_047287660.1:p.Asp70Ala, XP_047287659.1:p.Asp70Ala, XP_047287662.1:p.Asp69Ala, XP_047287688.1:p.Asp49Ala, XP_047287682.1:p.Asp69Ala, XP_047287685.1:p.Asp58Ala, XP_047287686.1:p.Asp57Ala

          5.

          rs1476079648 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:151236663 (GRCh38)
            1:151209139 (GRCh37)
            Canonical SPDI:
            NC_000001.11:151236662:G:A
            Gene:
            PIP5K1A (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_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_000001.11:g.151236663G>A, NC_000001.10:g.151209139G>A, XM_005245530.6:c.1021G>A, XM_005245530.5:c.1021G>A, XM_005245530.4:c.1021G>A, XM_005245530.3:c.1021G>A, XM_005245530.2:c.1021G>A, XM_005245530.1:c.1021G>A, XM_005245525.6:c.1075G>A, XM_005245525.5:c.1075G>A, XM_005245525.4:c.1075G>A, XM_005245525.3:c.1075G>A, XM_005245525.2:c.1075G>A, XM_005245525.1:c.1075G>A, XM_005245528.6:c.1039G>A, XM_005245528.5:c.1039G>A, XM_005245528.4:c.1039G>A, XM_005245528.3:c.1039G>A, XM_005245528.2:c.1039G>A, XM_005245528.1:c.1039G>A, XM_005245532.5:c.985G>A, XM_005245532.4:c.985G>A, XM_005245532.3:c.985G>A, XM_005245532.2:c.985G>A, XM_005245532.1:c.985G>A, XM_006711567.5:c.937G>A, XM_006711567.4:c.937G>A, XM_006711567.3:c.937G>A, XM_006711567.2:c.937G>A, XM_006711567.1:c.937G>A, XM_006711563.5:c.1081G>A, XM_006711563.4:c.1081G>A, XM_006711563.3:c.1081G>A, XM_006711563.2:c.1081G>A, XM_006711563.1:c.1081G>A, XM_006711564.5:c.1045G>A, XM_006711564.4:c.1045G>A, XM_006711564.3:c.1045G>A, XM_006711564.2:c.1045G>A, XM_006711564.1:c.1045G>A, XM_005245527.5:c.1042G>A, XM_005245527.4:c.1042G>A, XM_005245527.3:c.1042G>A, XM_005245527.2:c.1042G>A, XM_005245527.1:c.1042G>A, XM_006711568.5:c.1060G>A, XM_006711568.4:c.1060G>A, XM_006711568.3:c.1060G>A, XM_006711568.2:c.1060G>A, XM_006711568.1:c.937G>A, XM_011510045.4:c.1018G>A, XM_011510045.3:c.1018G>A, XM_011510045.2:c.1018G>A, XM_011510045.1:c.1018G>A, XM_011510046.4:c.982G>A, XM_011510046.3:c.982G>A, XM_011510046.2:c.982G>A, XM_011510046.1:c.982G>A, XM_011510049.4:c.937G>A, XM_011510049.3:c.937G>A, XM_011510049.2:c.937G>A, XM_011510049.1:c.937G>A, XM_011510043.4:c.1024G>A, XM_011510043.3:c.1024G>A, XM_011510043.2:c.1024G>A, XM_011510043.1:c.1024G>A, NM_003557.3:c.1006G>A, NM_003557.2:c.1006G>A, XM_024450131.2:c.901G>A, XM_024450131.1:c.901G>A, NM_001135638.2:c.1045G>A, NM_001135638.1:c.1045G>A, XM_024450129.2:c.1057G>A, XM_024450129.1:c.1057G>A, NM_001330689.2:c.1009G>A, NM_001330689.1:c.1009G>A, NM_001135636.2:c.1009G>A, NM_001135636.1:c.1009G>A, NM_001135637.2:c.1006G>A, NM_001135637.1:c.1006G>A, XM_024450130.2:c.1021G>A, XM_024450130.1:c.1021G>A, XM_017002439.2:c.1009G>A, XM_017002439.1:c.1009G>A, XM_017002440.2:c.1006G>A, XM_017002440.1:c.1006G>A, XM_047431682.1:c.937G>A, XM_047431698.1:c.901G>A, XM_047431694.1:c.901G>A, XM_047431635.1:c.1072G>A, XM_047431651.1:c.1036G>A, XM_047431701.1:c.985G>A, XM_047431702.1:c.982G>A, XM_047431638.1:c.1060G>A, XM_047431673.1:c.1081G>A, XM_047431658.1:c.1024G>A, XM_047431677.1:c.1045G>A, XM_047431675.1:c.1045G>A, XM_047431681.1:c.1024G>A, XM_047431679.1:c.1042G>A, XM_047431687.1:c.1006G>A, XM_047431709.1:c.1021G>A, XM_047431710.1:c.1018G>A, XM_047431712.1:c.985G>A, XM_047431720.1:c.982G>A, XM_047431657.1:c.1024G>A, XM_047431670.1:c.1021G>A, XM_047431704.1:c.1045G>A, XM_047431703.1:c.1045G>A, XM_047431706.1:c.1042G>A, XM_047431732.1:c.982G>A, XM_047431726.1:c.1042G>A, XM_047431729.1:c.1009G>A, XM_047431730.1:c.1006G>A, XP_005245587.1:p.Asp341Asn, XP_005245582.1:p.Asp359Asn, XP_005245585.1:p.Asp347Asn, XP_005245589.1:p.Asp329Asn, XP_006711630.1:p.Asp313Asn, XP_006711626.1:p.Asp361Asn, XP_006711627.1:p.Asp349Asn, XP_005245584.1:p.Asp348Asn, XP_006711631.2:p.Asp354Asn, XP_011508347.1:p.Asp340Asn, XP_011508348.1:p.Asp328Asn, XP_011508351.1:p.Asp313Asn, XP_011508345.1:p.Asp342Asn, NP_003548.1:p.Asp336Asn, XP_024305899.1:p.Asp301Asn, NP_001129110.1:p.Asp349Asn, XP_024305897.1:p.Asp353Asn, NP_001317618.1:p.Asp337Asn, NP_001129108.1:p.Asp337Asn, NP_001129109.1:p.Asp336Asn, XP_024305898.1:p.Asp341Asn, XP_016857928.1:p.Asp337Asn, XP_016857929.1:p.Asp336Asn, XP_047287638.1:p.Asp313Asn, XP_047287654.1:p.Asp301Asn, XP_047287650.1:p.Asp301Asn, XP_047287591.1:p.Asp358Asn, XP_047287607.1:p.Asp346Asn, XP_047287657.1:p.Asp329Asn, XP_047287658.1:p.Asp328Asn, XP_047287594.1:p.Asp354Asn, XP_047287629.1:p.Asp361Asn, XP_047287614.1:p.Asp342Asn, XP_047287633.1:p.Asp349Asn, XP_047287631.1:p.Asp349Asn, XP_047287637.1:p.Asp342Asn, XP_047287635.1:p.Asp348Asn, XP_047287643.1:p.Asp336Asn, XP_047287665.1:p.Asp341Asn, XP_047287666.1:p.Asp340Asn, XP_047287668.1:p.Asp329Asn, XP_047287676.1:p.Asp328Asn, XP_047287613.1:p.Asp342Asn, XP_047287626.1:p.Asp341Asn, XP_047287660.1:p.Asp349Asn, XP_047287659.1:p.Asp349Asn, XP_047287662.1:p.Asp348Asn, XP_047287688.1:p.Asp328Asn, XP_047287682.1:p.Asp348Asn, XP_047287685.1:p.Asp337Asn, XP_047287686.1:p.Asp336Asn

            6.

            rs1475489460 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A,G [Show Flanks]
              Chromosome:
              1:151234213 (GRCh38)
              1:151206689 (GRCh37)
              Canonical SPDI:
              NC_000001.11:151234212:C:A,NC_000001.11:151234212:C:G
              Gene:
              PIP5K1A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000001.11:g.151234213C>A, NC_000001.11:g.151234213C>G, NC_000001.10:g.151206689C>A, NC_000001.10:g.151206689C>G, XM_005245530.6:c.632C>A, XM_005245530.6:c.632C>G, XM_005245530.5:c.632C>A, XM_005245530.5:c.632C>G, XM_005245530.4:c.632C>A, XM_005245530.4:c.632C>G, XM_005245530.3:c.632C>A, XM_005245530.3:c.632C>G, XM_005245530.2:c.632C>A, XM_005245530.2:c.632C>G, XM_005245530.1:c.632C>A, XM_005245530.1:c.632C>G, XM_005245525.6:c.686C>A, XM_005245525.6:c.686C>G, XM_005245525.5:c.686C>A, XM_005245525.5:c.686C>G, XM_005245525.4:c.686C>A, XM_005245525.4:c.686C>G, XM_005245525.3:c.686C>A, XM_005245525.3:c.686C>G, XM_005245525.2:c.686C>A, XM_005245525.2:c.686C>G, XM_005245525.1:c.686C>A, XM_005245525.1:c.686C>G, XM_005245528.6:c.650C>A, XM_005245528.6:c.650C>G, XM_005245528.5:c.650C>A, XM_005245528.5:c.650C>G, XM_005245528.4:c.650C>A, XM_005245528.4:c.650C>G, XM_005245528.3:c.650C>A, XM_005245528.3:c.650C>G, XM_005245528.2:c.650C>A, XM_005245528.2:c.650C>G, XM_005245528.1:c.650C>A, XM_005245528.1:c.650C>G, XM_005245532.5:c.596C>A, XM_005245532.5:c.596C>G, XM_005245532.4:c.596C>A, XM_005245532.4:c.596C>G, XM_005245532.3:c.596C>A, XM_005245532.3:c.596C>G, XM_005245532.2:c.596C>A, XM_005245532.2:c.596C>G, XM_005245532.1:c.596C>A, XM_005245532.1:c.596C>G, XM_006711567.5:c.548C>A, XM_006711567.5:c.548C>G, XM_006711567.4:c.548C>A, XM_006711567.4:c.548C>G, XM_006711567.3:c.548C>A, XM_006711567.3:c.548C>G, XM_006711567.2:c.548C>A, XM_006711567.2:c.548C>G, XM_006711567.1:c.548C>A, XM_006711567.1:c.548C>G, XM_006711563.5:c.692C>A, XM_006711563.5:c.692C>G, XM_006711563.4:c.692C>A, XM_006711563.4:c.692C>G, XM_006711563.3:c.692C>A, XM_006711563.3:c.692C>G, XM_006711563.2:c.692C>A, XM_006711563.2:c.692C>G, XM_006711563.1:c.692C>A, XM_006711563.1:c.692C>G, XM_006711564.5:c.656C>A, XM_006711564.5:c.656C>G, XM_006711564.4:c.656C>A, XM_006711564.4:c.656C>G, XM_006711564.3:c.656C>A, XM_006711564.3:c.656C>G, XM_006711564.2:c.656C>A, XM_006711564.2:c.656C>G, XM_006711564.1:c.656C>A, XM_006711564.1:c.656C>G, XM_005245527.5:c.653C>A, XM_005245527.5:c.653C>G, XM_005245527.4:c.653C>A, XM_005245527.4:c.653C>G, XM_005245527.3:c.653C>A, XM_005245527.3:c.653C>G, XM_005245527.2:c.653C>A, XM_005245527.2:c.653C>G, XM_005245527.1:c.653C>A, XM_005245527.1:c.653C>G, XM_006711568.5:c.671C>A, XM_006711568.5:c.671C>G, XM_006711568.4:c.671C>A, XM_006711568.4:c.671C>G, XM_006711568.3:c.671C>A, XM_006711568.3:c.671C>G, XM_006711568.2:c.671C>A, XM_006711568.2:c.671C>G, XM_006711568.1:c.548C>A, XM_006711568.1:c.548C>G, XM_011510045.4:c.629C>A, XM_011510045.4:c.629C>G, XM_011510045.3:c.629C>A, XM_011510045.3:c.629C>G, XM_011510045.2:c.629C>A, XM_011510045.2:c.629C>G, XM_011510045.1:c.629C>A, XM_011510045.1:c.629C>G, XM_011510046.4:c.593C>A, XM_011510046.4:c.593C>G, XM_011510046.3:c.593C>A, XM_011510046.3:c.593C>G, XM_011510046.2:c.593C>A, XM_011510046.2:c.593C>G, XM_011510046.1:c.593C>A, XM_011510046.1:c.593C>G, XM_011510049.4:c.548C>A, XM_011510049.4:c.548C>G, XM_011510049.3:c.548C>A, XM_011510049.3:c.548C>G, XM_011510049.2:c.548C>A, XM_011510049.2:c.548C>G, XM_011510049.1:c.548C>A, XM_011510049.1:c.548C>G, XM_011510043.4:c.635C>A, XM_011510043.4:c.635C>G, XM_011510043.3:c.635C>A, XM_011510043.3:c.635C>G, XM_011510043.2:c.635C>A, XM_011510043.2:c.635C>G, XM_011510043.1:c.635C>A, XM_011510043.1:c.635C>G, NM_003557.3:c.617C>A, NM_003557.3:c.617C>G, NM_003557.2:c.617C>A, NM_003557.2:c.617C>G, XM_024450131.2:c.512C>A, XM_024450131.2:c.512C>G, XM_024450131.1:c.512C>A, XM_024450131.1:c.512C>G, NM_001135638.2:c.656C>A, NM_001135638.2:c.656C>G, NM_001135638.1:c.656C>A, NM_001135638.1:c.656C>G, XM_024450129.2:c.668C>A, XM_024450129.2:c.668C>G, XM_024450129.1:c.668C>A, XM_024450129.1:c.668C>G, NM_001330689.2:c.620C>A, NM_001330689.2:c.620C>G, NM_001330689.1:c.620C>A, NM_001330689.1:c.620C>G, NM_001135636.2:c.620C>A, NM_001135636.2:c.620C>G, NM_001135636.1:c.620C>A, NM_001135636.1:c.620C>G, NM_001135637.2:c.617C>A, NM_001135637.2:c.617C>G, NM_001135637.1:c.617C>A, NM_001135637.1:c.617C>G, XM_024450130.2:c.632C>A, XM_024450130.2:c.632C>G, XM_024450130.1:c.632C>A, XM_024450130.1:c.632C>G, XM_017002439.2:c.620C>A, XM_017002439.2:c.620C>G, XM_017002439.1:c.620C>A, XM_017002439.1:c.620C>G, XM_017002440.2:c.617C>A, XM_017002440.2:c.617C>G, XM_017002440.1:c.617C>A, XM_017002440.1:c.617C>G, XM_047431682.1:c.548C>A, XM_047431682.1:c.548C>G, XM_047431698.1:c.512C>A, XM_047431698.1:c.512C>G, XM_047431694.1:c.512C>A, XM_047431694.1:c.512C>G, XM_047431635.1:c.683C>A, XM_047431635.1:c.683C>G, XM_047431651.1:c.647C>A, XM_047431651.1:c.647C>G, XM_047431701.1:c.596C>A, XM_047431701.1:c.596C>G, XM_047431702.1:c.593C>A, XM_047431702.1:c.593C>G, XM_047431638.1:c.671C>A, XM_047431638.1:c.671C>G, XM_047431673.1:c.692C>A, XM_047431673.1:c.692C>G, XM_047431658.1:c.635C>A, XM_047431658.1:c.635C>G, XM_047431677.1:c.656C>A, XM_047431677.1:c.656C>G, XM_047431675.1:c.656C>A, XM_047431675.1:c.656C>G, XM_047431681.1:c.635C>A, XM_047431681.1:c.635C>G, XM_047431679.1:c.653C>A, XM_047431679.1:c.653C>G, XM_047431687.1:c.617C>A, XM_047431687.1:c.617C>G, XM_047431709.1:c.632C>A, XM_047431709.1:c.632C>G, XM_047431710.1:c.629C>A, XM_047431710.1:c.629C>G, XM_047431712.1:c.596C>A, XM_047431712.1:c.596C>G, XM_047431720.1:c.593C>A, XM_047431720.1:c.593C>G, XM_047431657.1:c.635C>A, XM_047431657.1:c.635C>G, XM_047431670.1:c.632C>A, XM_047431670.1:c.632C>G, XM_047431704.1:c.656C>A, XM_047431704.1:c.656C>G, XM_047431703.1:c.656C>A, XM_047431703.1:c.656C>G, XM_047431706.1:c.653C>A, XM_047431706.1:c.653C>G, XM_047431732.1:c.593C>A, XM_047431732.1:c.593C>G, XM_047431726.1:c.653C>A, XM_047431726.1:c.653C>G, XM_047431729.1:c.620C>A, XM_047431729.1:c.620C>G, XM_047431730.1:c.617C>A, XM_047431730.1:c.617C>G, XP_005245587.1:p.Pro211His, XP_005245587.1:p.Pro211Arg, XP_005245582.1:p.Pro229His, XP_005245582.1:p.Pro229Arg, XP_005245585.1:p.Pro217His, XP_005245585.1:p.Pro217Arg, XP_005245589.1:p.Pro199His, XP_005245589.1:p.Pro199Arg, XP_006711630.1:p.Pro183His, XP_006711630.1:p.Pro183Arg, XP_006711626.1:p.Pro231His, XP_006711626.1:p.Pro231Arg, XP_006711627.1:p.Pro219His, XP_006711627.1:p.Pro219Arg, XP_005245584.1:p.Pro218His, XP_005245584.1:p.Pro218Arg, XP_006711631.2:p.Pro224His, XP_006711631.2:p.Pro224Arg, XP_011508347.1:p.Pro210His, XP_011508347.1:p.Pro210Arg, XP_011508348.1:p.Pro198His, XP_011508348.1:p.Pro198Arg, XP_011508351.1:p.Pro183His, XP_011508351.1:p.Pro183Arg, XP_011508345.1:p.Pro212His, XP_011508345.1:p.Pro212Arg, NP_003548.1:p.Pro206His, NP_003548.1:p.Pro206Arg, XP_024305899.1:p.Pro171His, XP_024305899.1:p.Pro171Arg, NP_001129110.1:p.Pro219His, NP_001129110.1:p.Pro219Arg, XP_024305897.1:p.Pro223His, XP_024305897.1:p.Pro223Arg, NP_001317618.1:p.Pro207His, NP_001317618.1:p.Pro207Arg, NP_001129108.1:p.Pro207His, NP_001129108.1:p.Pro207Arg, NP_001129109.1:p.Pro206His, NP_001129109.1:p.Pro206Arg, XP_024305898.1:p.Pro211His, XP_024305898.1:p.Pro211Arg, XP_016857928.1:p.Pro207His, XP_016857928.1:p.Pro207Arg, XP_016857929.1:p.Pro206His, XP_016857929.1:p.Pro206Arg, XP_047287638.1:p.Pro183His, XP_047287638.1:p.Pro183Arg, XP_047287654.1:p.Pro171His, XP_047287654.1:p.Pro171Arg, XP_047287650.1:p.Pro171His, XP_047287650.1:p.Pro171Arg, XP_047287591.1:p.Pro228His, XP_047287591.1:p.Pro228Arg, XP_047287607.1:p.Pro216His, XP_047287607.1:p.Pro216Arg, XP_047287657.1:p.Pro199His, XP_047287657.1:p.Pro199Arg, XP_047287658.1:p.Pro198His, XP_047287658.1:p.Pro198Arg, XP_047287594.1:p.Pro224His, XP_047287594.1:p.Pro224Arg, XP_047287629.1:p.Pro231His, XP_047287629.1:p.Pro231Arg, XP_047287614.1:p.Pro212His, XP_047287614.1:p.Pro212Arg, XP_047287633.1:p.Pro219His, XP_047287633.1:p.Pro219Arg, XP_047287631.1:p.Pro219His, XP_047287631.1:p.Pro219Arg, XP_047287637.1:p.Pro212His, XP_047287637.1:p.Pro212Arg, XP_047287635.1:p.Pro218His, XP_047287635.1:p.Pro218Arg, XP_047287643.1:p.Pro206His, XP_047287643.1:p.Pro206Arg, XP_047287665.1:p.Pro211His, XP_047287665.1:p.Pro211Arg, XP_047287666.1:p.Pro210His, XP_047287666.1:p.Pro210Arg, XP_047287668.1:p.Pro199His, XP_047287668.1:p.Pro199Arg, XP_047287676.1:p.Pro198His, XP_047287676.1:p.Pro198Arg, XP_047287613.1:p.Pro212His, XP_047287613.1:p.Pro212Arg, XP_047287626.1:p.Pro211His, XP_047287626.1:p.Pro211Arg, XP_047287660.1:p.Pro219His, XP_047287660.1:p.Pro219Arg, XP_047287659.1:p.Pro219His, XP_047287659.1:p.Pro219Arg, XP_047287662.1:p.Pro218His, XP_047287662.1:p.Pro218Arg, XP_047287688.1:p.Pro198His, XP_047287688.1:p.Pro198Arg, XP_047287682.1:p.Pro218His, XP_047287682.1:p.Pro218Arg, XP_047287685.1:p.Pro207His, XP_047287685.1:p.Pro207Arg, XP_047287686.1:p.Pro206His, XP_047287686.1:p.Pro206Arg

              7.

              rs1469236506 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:151236647 (GRCh38)
                1:151209123 (GRCh37)
                Canonical SPDI:
                NC_000001.11:151236646:A:G
                Gene:
                PIP5K1A (Varview)
                Functional Consequence:
                synonymous_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000111/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.151236647A>G, NC_000001.10:g.151209123A>G, XM_005245530.6:c.1005A>G, XM_005245530.5:c.1005A>G, XM_005245530.4:c.1005A>G, XM_005245530.3:c.1005A>G, XM_005245530.2:c.1005A>G, XM_005245530.1:c.1005A>G, XM_005245525.6:c.1059A>G, XM_005245525.5:c.1059A>G, XM_005245525.4:c.1059A>G, XM_005245525.3:c.1059A>G, XM_005245525.2:c.1059A>G, XM_005245525.1:c.1059A>G, XM_005245528.6:c.1023A>G, XM_005245528.5:c.1023A>G, XM_005245528.4:c.1023A>G, XM_005245528.3:c.1023A>G, XM_005245528.2:c.1023A>G, XM_005245528.1:c.1023A>G, XM_005245532.5:c.969A>G, XM_005245532.4:c.969A>G, XM_005245532.3:c.969A>G, XM_005245532.2:c.969A>G, XM_005245532.1:c.969A>G, XM_006711567.5:c.921A>G, XM_006711567.4:c.921A>G, XM_006711567.3:c.921A>G, XM_006711567.2:c.921A>G, XM_006711567.1:c.921A>G, XM_006711563.5:c.1065A>G, XM_006711563.4:c.1065A>G, XM_006711563.3:c.1065A>G, XM_006711563.2:c.1065A>G, XM_006711563.1:c.1065A>G, XM_006711564.5:c.1029A>G, XM_006711564.4:c.1029A>G, XM_006711564.3:c.1029A>G, XM_006711564.2:c.1029A>G, XM_006711564.1:c.1029A>G, XM_005245527.5:c.1026A>G, XM_005245527.4:c.1026A>G, XM_005245527.3:c.1026A>G, XM_005245527.2:c.1026A>G, XM_005245527.1:c.1026A>G, XM_006711568.5:c.1044A>G, XM_006711568.4:c.1044A>G, XM_006711568.3:c.1044A>G, XM_006711568.2:c.1044A>G, XM_006711568.1:c.921A>G, XM_011510045.4:c.1002A>G, XM_011510045.3:c.1002A>G, XM_011510045.2:c.1002A>G, XM_011510045.1:c.1002A>G, XM_011510046.4:c.966A>G, XM_011510046.3:c.966A>G, XM_011510046.2:c.966A>G, XM_011510046.1:c.966A>G, XM_011510049.4:c.921A>G, XM_011510049.3:c.921A>G, XM_011510049.2:c.921A>G, XM_011510049.1:c.921A>G, XM_011510043.4:c.1008A>G, XM_011510043.3:c.1008A>G, XM_011510043.2:c.1008A>G, XM_011510043.1:c.1008A>G, NM_003557.3:c.990A>G, NM_003557.2:c.990A>G, XM_024450131.2:c.885A>G, XM_024450131.1:c.885A>G, NM_001135638.2:c.1029A>G, NM_001135638.1:c.1029A>G, XM_024450129.2:c.1041A>G, XM_024450129.1:c.1041A>G, NM_001330689.2:c.993A>G, NM_001330689.1:c.993A>G, NM_001135636.2:c.993A>G, NM_001135636.1:c.993A>G, NM_001135637.2:c.990A>G, NM_001135637.1:c.990A>G, XM_024450130.2:c.1005A>G, XM_024450130.1:c.1005A>G, XM_017002439.2:c.993A>G, XM_017002439.1:c.993A>G, XM_017002440.2:c.990A>G, XM_017002440.1:c.990A>G, XM_047431682.1:c.921A>G, XM_047431698.1:c.885A>G, XM_047431694.1:c.885A>G, XM_047431635.1:c.1056A>G, XM_047431651.1:c.1020A>G, XM_047431701.1:c.969A>G, XM_047431702.1:c.966A>G, XM_047431638.1:c.1044A>G, XM_047431673.1:c.1065A>G, XM_047431658.1:c.1008A>G, XM_047431677.1:c.1029A>G, XM_047431675.1:c.1029A>G, XM_047431681.1:c.1008A>G, XM_047431679.1:c.1026A>G, XM_047431687.1:c.990A>G, XM_047431709.1:c.1005A>G, XM_047431710.1:c.1002A>G, XM_047431712.1:c.969A>G, XM_047431720.1:c.966A>G, XM_047431657.1:c.1008A>G, XM_047431670.1:c.1005A>G, XM_047431704.1:c.1029A>G, XM_047431703.1:c.1029A>G, XM_047431706.1:c.1026A>G, XM_047431732.1:c.966A>G, XM_047431726.1:c.1026A>G, XM_047431729.1:c.993A>G, XM_047431730.1:c.990A>G

                8.

                rs1466514957 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  1:151242534 (GRCh38)
                  1:151215010 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:151242533:T:C
                  Gene:
                  PIP5K1A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000001.11:g.151242534T>C, NC_000001.10:g.151215010T>C, XM_005245530.6:c.1583T>C, XM_005245530.5:c.1583T>C, XM_005245530.4:c.1583T>C, XM_005245530.3:c.1583T>C, XM_005245530.2:c.1583T>C, XM_005245530.1:c.1583T>C, XM_005245525.6:c.1637T>C, XM_005245525.5:c.1637T>C, XM_005245525.4:c.1637T>C, XM_005245525.3:c.1637T>C, XM_005245525.2:c.1637T>C, XM_005245525.1:c.1637T>C, XM_005245528.6:c.1601T>C, XM_005245528.5:c.1601T>C, XM_005245528.4:c.1601T>C, XM_005245528.3:c.1601T>C, XM_005245528.2:c.1601T>C, XM_005245528.1:c.1601T>C, XM_005245532.5:c.1547T>C, XM_005245532.4:c.1547T>C, XM_005245532.3:c.1547T>C, XM_005245532.2:c.1547T>C, XM_005245532.1:c.1547T>C, XM_006711567.5:c.1499T>C, XM_006711567.4:c.1499T>C, XM_006711567.3:c.1499T>C, XM_006711567.2:c.1499T>C, XM_006711567.1:c.1499T>C, XM_006711563.5:c.1643T>C, XM_006711563.4:c.1643T>C, XM_006711563.3:c.1643T>C, XM_006711563.2:c.1643T>C, XM_006711563.1:c.1643T>C, XM_006711564.5:c.1607T>C, XM_006711564.4:c.1607T>C, XM_006711564.3:c.1607T>C, XM_006711564.2:c.1607T>C, XM_006711564.1:c.1607T>C, XM_005245527.5:c.1604T>C, XM_005245527.4:c.1604T>C, XM_005245527.3:c.1604T>C, XM_005245527.2:c.1604T>C, XM_005245527.1:c.1604T>C, XM_006711568.5:c.1622T>C, XM_006711568.4:c.1622T>C, XM_006711568.3:c.1622T>C, XM_006711568.2:c.1622T>C, XM_006711568.1:c.1499T>C, XM_011510045.4:c.1580T>C, XM_011510045.3:c.1580T>C, XM_011510045.2:c.1580T>C, XM_011510045.1:c.1580T>C, XM_011510046.4:c.1544T>C, XM_011510046.3:c.1544T>C, XM_011510046.2:c.1544T>C, XM_011510046.1:c.1544T>C, XM_011510049.4:c.1499T>C, XM_011510049.3:c.1499T>C, XM_011510049.2:c.1499T>C, XM_011510049.1:c.1499T>C, XM_011510043.4:c.1586T>C, XM_011510043.3:c.1586T>C, XM_011510043.2:c.1586T>C, XM_011510043.1:c.1586T>C, NM_003557.3:c.1568T>C, NM_003557.2:c.1568T>C, XM_024450131.2:c.1463T>C, XM_024450131.1:c.1463T>C, NM_001135638.2:c.1607T>C, NM_001135638.1:c.1607T>C, XM_024450129.2:c.1619T>C, XM_024450129.1:c.1619T>C, NM_001330689.2:c.1571T>C, NM_001330689.1:c.1571T>C, NM_001135636.2:c.1487T>C, NM_001135636.1:c.1487T>C, NM_001135637.2:c.1421T>C, NM_001135637.1:c.1421T>C, XM_024450130.2:c.1583T>C, XM_024450130.1:c.1583T>C, XM_047431682.1:c.1499T>C, XM_047431698.1:c.1463T>C, XM_047431694.1:c.1463T>C, XM_047431635.1:c.1634T>C, XM_047431651.1:c.1598T>C, XM_047431701.1:c.1463T>C, XM_047431702.1:c.1460T>C, XM_047431638.1:c.1622T>C, XM_047431673.1:c.1559T>C, XM_047431658.1:c.1586T>C, XM_047431677.1:c.1523T>C, XM_047431675.1:c.1523T>C, XM_047431681.1:c.1502T>C, XM_047431679.1:c.1520T>C, XM_047431687.1:c.1484T>C, XM_047431657.1:c.1586T>C, XM_047431670.1:c.1583T>C, XP_005245587.1:p.Leu528Pro, XP_005245582.1:p.Leu546Pro, XP_005245585.1:p.Leu534Pro, XP_005245589.1:p.Leu516Pro, XP_006711630.1:p.Leu500Pro, XP_006711626.1:p.Leu548Pro, XP_006711627.1:p.Leu536Pro, XP_005245584.1:p.Leu535Pro, XP_006711631.2:p.Leu541Pro, XP_011508347.1:p.Leu527Pro, XP_011508348.1:p.Leu515Pro, XP_011508351.1:p.Leu500Pro, XP_011508345.1:p.Leu529Pro, NP_003548.1:p.Leu523Pro, XP_024305899.1:p.Leu488Pro, NP_001129110.1:p.Leu536Pro, XP_024305897.1:p.Leu540Pro, NP_001317618.1:p.Leu524Pro, NP_001129108.1:p.Leu496Pro, NP_001129109.1:p.Leu474Pro, XP_024305898.1:p.Leu528Pro, XP_047287638.1:p.Leu500Pro, XP_047287654.1:p.Leu488Pro, XP_047287650.1:p.Leu488Pro, XP_047287591.1:p.Leu545Pro, XP_047287607.1:p.Leu533Pro, XP_047287657.1:p.Leu488Pro, XP_047287658.1:p.Leu487Pro, XP_047287594.1:p.Leu541Pro, XP_047287629.1:p.Leu520Pro, XP_047287614.1:p.Leu529Pro, XP_047287633.1:p.Leu508Pro, XP_047287631.1:p.Leu508Pro, XP_047287637.1:p.Leu501Pro, XP_047287635.1:p.Leu507Pro, XP_047287643.1:p.Leu495Pro, XP_047287613.1:p.Leu529Pro, XP_047287626.1:p.Leu528Pro

                  9.

                  rs1465451002 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    1:151224273 (GRCh38)
                    1:151196749 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:151224272:A:G
                    Gene:
                    PIP5K1A (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000001.11:g.151224273A>G, NC_000001.10:g.151196749A>G, XM_005245530.6:c.90A>G, XM_005245530.5:c.90A>G, XM_005245530.4:c.90A>G, XM_005245530.3:c.90A>G, XM_005245530.2:c.90A>G, XM_005245530.1:c.90A>G, XM_005245525.6:c.144A>G, XM_005245525.5:c.144A>G, XM_005245525.4:c.144A>G, XM_005245525.3:c.144A>G, XM_005245525.2:c.144A>G, XM_005245525.1:c.144A>G, XM_005245528.6:c.144A>G, XM_005245528.5:c.144A>G, XM_005245528.4:c.144A>G, XM_005245528.3:c.144A>G, XM_005245528.2:c.144A>G, XM_005245528.1:c.144A>G, XM_005245532.5:c.90A>G, XM_005245532.4:c.90A>G, XM_005245532.3:c.90A>G, XM_005245532.2:c.90A>G, XM_005245532.1:c.90A>G, XM_006711567.5:c.6A>G, XM_006711567.4:c.6A>G, XM_006711567.3:c.6A>G, XM_006711567.2:c.6A>G, XM_006711567.1:c.6A>G, XM_006711563.5:c.150A>G, XM_006711563.4:c.150A>G, XM_006711563.3:c.150A>G, XM_006711563.2:c.150A>G, XM_006711563.1:c.150A>G, XM_006711564.5:c.150A>G, XM_006711564.4:c.150A>G, XM_006711564.3:c.150A>G, XM_006711564.2:c.150A>G, XM_006711564.1:c.150A>G, XM_005245527.5:c.111A>G, XM_005245527.4:c.111A>G, XM_005245527.3:c.111A>G, XM_005245527.2:c.111A>G, XM_005245527.1:c.111A>G, XM_006711568.5:c.129A>G, XM_006711568.4:c.129A>G, XM_006711568.3:c.129A>G, XM_006711568.2:c.129A>G, XM_006711568.1:c.6A>G, XM_011510045.4:c.87A>G, XM_011510045.3:c.87A>G, XM_011510045.2:c.87A>G, XM_011510045.1:c.87A>G, XM_011510046.4:c.87A>G, XM_011510046.3:c.87A>G, XM_011510046.2:c.87A>G, XM_011510046.1:c.87A>G, XM_011510049.4:c.6A>G, XM_011510049.3:c.6A>G, XM_011510049.2:c.6A>G, XM_011510049.1:c.6A>G, XM_011510043.4:c.129A>G, XM_011510043.3:c.129A>G, XM_011510043.2:c.129A>G, XM_011510043.1:c.129A>G, NM_003557.3:c.111A>G, NM_003557.2:c.111A>G, XM_024450131.2:c.6A>G, XM_024450131.1:c.6A>G, NM_001135638.2:c.114A>G, NM_001135638.1:c.114A>G, XM_024450129.2:c.126A>G, XM_024450129.1:c.126A>G, NM_001330689.2:c.114A>G, NM_001330689.1:c.114A>G, NM_001135636.2:c.114A>G, NM_001135636.1:c.114A>G, NM_001135637.2:c.111A>G, NM_001135637.1:c.111A>G, XM_024450130.2:c.126A>G, XM_024450130.1:c.126A>G, XM_017002439.2:c.114A>G, XM_017002439.1:c.114A>G, XM_017002440.2:c.111A>G, XM_017002440.1:c.111A>G, XM_047431682.1:c.6A>G, XM_047431698.1:c.6A>G, XM_047431694.1:c.6A>G, XM_047431635.1:c.141A>G, XM_047431651.1:c.141A>G, XM_047431701.1:c.90A>G, XM_047431702.1:c.87A>G, XM_047431638.1:c.129A>G, XM_047431673.1:c.150A>G, XM_047431658.1:c.129A>G, XM_047431677.1:c.150A>G, XM_047431675.1:c.114A>G, XM_047431681.1:c.129A>G, XM_047431679.1:c.111A>G, XM_047431687.1:c.111A>G, XM_047431709.1:c.90A>G, XM_047431710.1:c.87A>G, XM_047431712.1:c.90A>G, XM_047431720.1:c.87A>G, XM_047431657.1:c.129A>G, XM_047431670.1:c.126A>G, XM_047431704.1:c.150A>G, XM_047431703.1:c.114A>G, XM_047431706.1:c.111A>G, XM_047431732.1:c.87A>G, XM_047431726.1:c.111A>G, XM_047431729.1:c.114A>G, XM_047431730.1:c.111A>G

                    10.

                    rs1465434285 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      1:151242519 (GRCh38)
                      1:151214995 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:151242518:C:G,NC_000001.11:151242518:C:T
                      Gene:
                      PIP5K1A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.151242519C>G, NC_000001.11:g.151242519C>T, NC_000001.10:g.151214995C>G, NC_000001.10:g.151214995C>T, XM_005245530.6:c.1568C>G, XM_005245530.6:c.1568C>T, XM_005245530.5:c.1568C>G, XM_005245530.5:c.1568C>T, XM_005245530.4:c.1568C>G, XM_005245530.4:c.1568C>T, XM_005245530.3:c.1568C>G, XM_005245530.3:c.1568C>T, XM_005245530.2:c.1568C>G, XM_005245530.2:c.1568C>T, XM_005245530.1:c.1568C>G, XM_005245530.1:c.1568C>T, XM_005245525.6:c.1622C>G, XM_005245525.6:c.1622C>T, XM_005245525.5:c.1622C>G, XM_005245525.5:c.1622C>T, XM_005245525.4:c.1622C>G, XM_005245525.4:c.1622C>T, XM_005245525.3:c.1622C>G, XM_005245525.3:c.1622C>T, XM_005245525.2:c.1622C>G, XM_005245525.2:c.1622C>T, XM_005245525.1:c.1622C>G, XM_005245525.1:c.1622C>T, XM_005245528.6:c.1586C>G, XM_005245528.6:c.1586C>T, XM_005245528.5:c.1586C>G, XM_005245528.5:c.1586C>T, XM_005245528.4:c.1586C>G, XM_005245528.4:c.1586C>T, XM_005245528.3:c.1586C>G, XM_005245528.3:c.1586C>T, XM_005245528.2:c.1586C>G, XM_005245528.2:c.1586C>T, XM_005245528.1:c.1586C>G, XM_005245528.1:c.1586C>T, XM_005245532.5:c.1532C>G, XM_005245532.5:c.1532C>T, XM_005245532.4:c.1532C>G, XM_005245532.4:c.1532C>T, XM_005245532.3:c.1532C>G, XM_005245532.3:c.1532C>T, XM_005245532.2:c.1532C>G, XM_005245532.2:c.1532C>T, XM_005245532.1:c.1532C>G, XM_005245532.1:c.1532C>T, XM_006711567.5:c.1484C>G, XM_006711567.5:c.1484C>T, XM_006711567.4:c.1484C>G, XM_006711567.4:c.1484C>T, XM_006711567.3:c.1484C>G, XM_006711567.3:c.1484C>T, XM_006711567.2:c.1484C>G, XM_006711567.2:c.1484C>T, XM_006711567.1:c.1484C>G, XM_006711567.1:c.1484C>T, XM_006711563.5:c.1628C>G, XM_006711563.5:c.1628C>T, XM_006711563.4:c.1628C>G, XM_006711563.4:c.1628C>T, XM_006711563.3:c.1628C>G, XM_006711563.3:c.1628C>T, XM_006711563.2:c.1628C>G, XM_006711563.2:c.1628C>T, XM_006711563.1:c.1628C>G, XM_006711563.1:c.1628C>T, XM_006711564.5:c.1592C>G, XM_006711564.5:c.1592C>T, XM_006711564.4:c.1592C>G, XM_006711564.4:c.1592C>T, XM_006711564.3:c.1592C>G, XM_006711564.3:c.1592C>T, XM_006711564.2:c.1592C>G, XM_006711564.2:c.1592C>T, XM_006711564.1:c.1592C>G, XM_006711564.1:c.1592C>T, XM_005245527.5:c.1589C>G, XM_005245527.5:c.1589C>T, XM_005245527.4:c.1589C>G, XM_005245527.4:c.1589C>T, XM_005245527.3:c.1589C>G, XM_005245527.3:c.1589C>T, XM_005245527.2:c.1589C>G, XM_005245527.2:c.1589C>T, XM_005245527.1:c.1589C>G, XM_005245527.1:c.1589C>T, XM_006711568.5:c.1607C>G, XM_006711568.5:c.1607C>T, XM_006711568.4:c.1607C>G, XM_006711568.4:c.1607C>T, XM_006711568.3:c.1607C>G, XM_006711568.3:c.1607C>T, XM_006711568.2:c.1607C>G, XM_006711568.2:c.1607C>T, XM_006711568.1:c.1484C>G, XM_006711568.1:c.1484C>T, XM_011510045.4:c.1565C>G, XM_011510045.4:c.1565C>T, XM_011510045.3:c.1565C>G, XM_011510045.3:c.1565C>T, XM_011510045.2:c.1565C>G, XM_011510045.2:c.1565C>T, XM_011510045.1:c.1565C>G, XM_011510045.1:c.1565C>T, XM_011510046.4:c.1529C>G, XM_011510046.4:c.1529C>T, XM_011510046.3:c.1529C>G, XM_011510046.3:c.1529C>T, XM_011510046.2:c.1529C>G, XM_011510046.2:c.1529C>T, XM_011510046.1:c.1529C>G, XM_011510046.1:c.1529C>T, XM_011510049.4:c.1484C>G, XM_011510049.4:c.1484C>T, XM_011510049.3:c.1484C>G, XM_011510049.3:c.1484C>T, XM_011510049.2:c.1484C>G, XM_011510049.2:c.1484C>T, XM_011510049.1:c.1484C>G, XM_011510049.1:c.1484C>T, XM_011510043.4:c.1571C>G, XM_011510043.4:c.1571C>T, XM_011510043.3:c.1571C>G, XM_011510043.3:c.1571C>T, XM_011510043.2:c.1571C>G, XM_011510043.2:c.1571C>T, XM_011510043.1:c.1571C>G, XM_011510043.1:c.1571C>T, NM_003557.3:c.1553C>G, NM_003557.3:c.1553C>T, NM_003557.2:c.1553C>G, NM_003557.2:c.1553C>T, XM_024450131.2:c.1448C>G, XM_024450131.2:c.1448C>T, XM_024450131.1:c.1448C>G, XM_024450131.1:c.1448C>T, NM_001135638.2:c.1592C>G, NM_001135638.2:c.1592C>T, NM_001135638.1:c.1592C>G, NM_001135638.1:c.1592C>T, XM_024450129.2:c.1604C>G, XM_024450129.2:c.1604C>T, XM_024450129.1:c.1604C>G, XM_024450129.1:c.1604C>T, NM_001330689.2:c.1556C>G, NM_001330689.2:c.1556C>T, NM_001330689.1:c.1556C>G, NM_001330689.1:c.1556C>T, NM_001135636.2:c.1472C>G, NM_001135636.2:c.1472C>T, NM_001135636.1:c.1472C>G, NM_001135636.1:c.1472C>T, NM_001135637.2:c.1406C>G, NM_001135637.2:c.1406C>T, NM_001135637.1:c.1406C>G, NM_001135637.1:c.1406C>T, XM_024450130.2:c.1568C>G, XM_024450130.2:c.1568C>T, XM_024450130.1:c.1568C>G, XM_024450130.1:c.1568C>T, XM_047431682.1:c.1484C>G, XM_047431682.1:c.1484C>T, XM_047431698.1:c.1448C>G, XM_047431698.1:c.1448C>T, XM_047431694.1:c.1448C>G, XM_047431694.1:c.1448C>T, XM_047431635.1:c.1619C>G, XM_047431635.1:c.1619C>T, XM_047431651.1:c.1583C>G, XM_047431651.1:c.1583C>T, XM_047431701.1:c.1448C>G, XM_047431701.1:c.1448C>T, XM_047431702.1:c.1445C>G, XM_047431702.1:c.1445C>T, XM_047431638.1:c.1607C>G, XM_047431638.1:c.1607C>T, XM_047431673.1:c.1544C>G, XM_047431673.1:c.1544C>T, XM_047431658.1:c.1571C>G, XM_047431658.1:c.1571C>T, XM_047431677.1:c.1508C>G, XM_047431677.1:c.1508C>T, XM_047431675.1:c.1508C>G, XM_047431675.1:c.1508C>T, XM_047431681.1:c.1487C>G, XM_047431681.1:c.1487C>T, XM_047431679.1:c.1505C>G, XM_047431679.1:c.1505C>T, XM_047431687.1:c.1469C>G, XM_047431687.1:c.1469C>T, XM_047431657.1:c.1571C>G, XM_047431657.1:c.1571C>T, XM_047431670.1:c.1568C>G, XM_047431670.1:c.1568C>T, XP_005245587.1:p.Pro523Arg, XP_005245587.1:p.Pro523Leu, XP_005245582.1:p.Pro541Arg, XP_005245582.1:p.Pro541Leu, XP_005245585.1:p.Pro529Arg, XP_005245585.1:p.Pro529Leu, XP_005245589.1:p.Pro511Arg, XP_005245589.1:p.Pro511Leu, XP_006711630.1:p.Pro495Arg, XP_006711630.1:p.Pro495Leu, XP_006711626.1:p.Pro543Arg, XP_006711626.1:p.Pro543Leu, XP_006711627.1:p.Pro531Arg, XP_006711627.1:p.Pro531Leu, XP_005245584.1:p.Pro530Arg, XP_005245584.1:p.Pro530Leu, XP_006711631.2:p.Pro536Arg, XP_006711631.2:p.Pro536Leu, XP_011508347.1:p.Pro522Arg, XP_011508347.1:p.Pro522Leu, XP_011508348.1:p.Pro510Arg, XP_011508348.1:p.Pro510Leu, XP_011508351.1:p.Pro495Arg, XP_011508351.1:p.Pro495Leu, XP_011508345.1:p.Pro524Arg, XP_011508345.1:p.Pro524Leu, NP_003548.1:p.Pro518Arg, NP_003548.1:p.Pro518Leu, XP_024305899.1:p.Pro483Arg, XP_024305899.1:p.Pro483Leu, NP_001129110.1:p.Pro531Arg, NP_001129110.1:p.Pro531Leu, XP_024305897.1:p.Pro535Arg, XP_024305897.1:p.Pro535Leu, NP_001317618.1:p.Pro519Arg, NP_001317618.1:p.Pro519Leu, NP_001129108.1:p.Pro491Arg, NP_001129108.1:p.Pro491Leu, NP_001129109.1:p.Pro469Arg, NP_001129109.1:p.Pro469Leu, XP_024305898.1:p.Pro523Arg, XP_024305898.1:p.Pro523Leu, XP_047287638.1:p.Pro495Arg, XP_047287638.1:p.Pro495Leu, XP_047287654.1:p.Pro483Arg, XP_047287654.1:p.Pro483Leu, XP_047287650.1:p.Pro483Arg, XP_047287650.1:p.Pro483Leu, XP_047287591.1:p.Pro540Arg, XP_047287591.1:p.Pro540Leu, XP_047287607.1:p.Pro528Arg, XP_047287607.1:p.Pro528Leu, XP_047287657.1:p.Pro483Arg, XP_047287657.1:p.Pro483Leu, XP_047287658.1:p.Pro482Arg, XP_047287658.1:p.Pro482Leu, XP_047287594.1:p.Pro536Arg, XP_047287594.1:p.Pro536Leu, XP_047287629.1:p.Pro515Arg, XP_047287629.1:p.Pro515Leu, XP_047287614.1:p.Pro524Arg, XP_047287614.1:p.Pro524Leu, XP_047287633.1:p.Pro503Arg, XP_047287633.1:p.Pro503Leu, XP_047287631.1:p.Pro503Arg, XP_047287631.1:p.Pro503Leu, XP_047287637.1:p.Pro496Arg, XP_047287637.1:p.Pro496Leu, XP_047287635.1:p.Pro502Arg, XP_047287635.1:p.Pro502Leu, XP_047287643.1:p.Pro490Arg, XP_047287643.1:p.Pro490Leu, XP_047287613.1:p.Pro524Arg, XP_047287613.1:p.Pro524Leu, XP_047287626.1:p.Pro523Arg, XP_047287626.1:p.Pro523Leu

                      11.

                      rs1463214866 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        1:151234267 (GRCh38)
                        1:151206743 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:151234266:A:G
                        Gene:
                        PIP5K1A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.151234267A>G, NC_000001.10:g.151206743A>G, XM_005245530.6:c.686A>G, XM_005245530.5:c.686A>G, XM_005245530.4:c.686A>G, XM_005245530.3:c.686A>G, XM_005245530.2:c.686A>G, XM_005245530.1:c.686A>G, XM_005245525.6:c.740A>G, XM_005245525.5:c.740A>G, XM_005245525.4:c.740A>G, XM_005245525.3:c.740A>G, XM_005245525.2:c.740A>G, XM_005245525.1:c.740A>G, XM_005245528.6:c.704A>G, XM_005245528.5:c.704A>G, XM_005245528.4:c.704A>G, XM_005245528.3:c.704A>G, XM_005245528.2:c.704A>G, XM_005245528.1:c.704A>G, XM_005245532.5:c.650A>G, XM_005245532.4:c.650A>G, XM_005245532.3:c.650A>G, XM_005245532.2:c.650A>G, XM_005245532.1:c.650A>G, XM_006711567.5:c.602A>G, XM_006711567.4:c.602A>G, XM_006711567.3:c.602A>G, XM_006711567.2:c.602A>G, XM_006711567.1:c.602A>G, XM_006711563.5:c.746A>G, XM_006711563.4:c.746A>G, XM_006711563.3:c.746A>G, XM_006711563.2:c.746A>G, XM_006711563.1:c.746A>G, XM_006711564.5:c.710A>G, XM_006711564.4:c.710A>G, XM_006711564.3:c.710A>G, XM_006711564.2:c.710A>G, XM_006711564.1:c.710A>G, XM_005245527.5:c.707A>G, XM_005245527.4:c.707A>G, XM_005245527.3:c.707A>G, XM_005245527.2:c.707A>G, XM_005245527.1:c.707A>G, XM_006711568.5:c.725A>G, XM_006711568.4:c.725A>G, XM_006711568.3:c.725A>G, XM_006711568.2:c.725A>G, XM_006711568.1:c.602A>G, XM_011510045.4:c.683A>G, XM_011510045.3:c.683A>G, XM_011510045.2:c.683A>G, XM_011510045.1:c.683A>G, XM_011510046.4:c.647A>G, XM_011510046.3:c.647A>G, XM_011510046.2:c.647A>G, XM_011510046.1:c.647A>G, XM_011510049.4:c.602A>G, XM_011510049.3:c.602A>G, XM_011510049.2:c.602A>G, XM_011510049.1:c.602A>G, XM_011510043.4:c.689A>G, XM_011510043.3:c.689A>G, XM_011510043.2:c.689A>G, XM_011510043.1:c.689A>G, NM_003557.3:c.671A>G, NM_003557.2:c.671A>G, XM_024450131.2:c.566A>G, XM_024450131.1:c.566A>G, NM_001135638.2:c.710A>G, NM_001135638.1:c.710A>G, XM_024450129.2:c.722A>G, XM_024450129.1:c.722A>G, NM_001330689.2:c.674A>G, NM_001330689.1:c.674A>G, NM_001135636.2:c.674A>G, NM_001135636.1:c.674A>G, NM_001135637.2:c.671A>G, NM_001135637.1:c.671A>G, XM_024450130.2:c.686A>G, XM_024450130.1:c.686A>G, XM_017002439.2:c.674A>G, XM_017002439.1:c.674A>G, XM_017002440.2:c.671A>G, XM_017002440.1:c.671A>G, XM_047431682.1:c.602A>G, XM_047431698.1:c.566A>G, XM_047431694.1:c.566A>G, XM_047431635.1:c.737A>G, XM_047431651.1:c.701A>G, XM_047431701.1:c.650A>G, XM_047431702.1:c.647A>G, XM_047431638.1:c.725A>G, XM_047431673.1:c.746A>G, XM_047431658.1:c.689A>G, XM_047431677.1:c.710A>G, XM_047431675.1:c.710A>G, XM_047431681.1:c.689A>G, XM_047431679.1:c.707A>G, XM_047431687.1:c.671A>G, XM_047431709.1:c.686A>G, XM_047431710.1:c.683A>G, XM_047431712.1:c.650A>G, XM_047431720.1:c.647A>G, XM_047431657.1:c.689A>G, XM_047431670.1:c.686A>G, XM_047431704.1:c.710A>G, XM_047431703.1:c.710A>G, XM_047431706.1:c.707A>G, XM_047431732.1:c.647A>G, XM_047431726.1:c.707A>G, XM_047431729.1:c.674A>G, XM_047431730.1:c.671A>G, XP_005245587.1:p.Lys229Arg, XP_005245582.1:p.Lys247Arg, XP_005245585.1:p.Lys235Arg, XP_005245589.1:p.Lys217Arg, XP_006711630.1:p.Lys201Arg, XP_006711626.1:p.Lys249Arg, XP_006711627.1:p.Lys237Arg, XP_005245584.1:p.Lys236Arg, XP_006711631.2:p.Lys242Arg, XP_011508347.1:p.Lys228Arg, XP_011508348.1:p.Lys216Arg, XP_011508351.1:p.Lys201Arg, XP_011508345.1:p.Lys230Arg, NP_003548.1:p.Lys224Arg, XP_024305899.1:p.Lys189Arg, NP_001129110.1:p.Lys237Arg, XP_024305897.1:p.Lys241Arg, NP_001317618.1:p.Lys225Arg, NP_001129108.1:p.Lys225Arg, NP_001129109.1:p.Lys224Arg, XP_024305898.1:p.Lys229Arg, XP_016857928.1:p.Lys225Arg, XP_016857929.1:p.Lys224Arg, XP_047287638.1:p.Lys201Arg, XP_047287654.1:p.Lys189Arg, XP_047287650.1:p.Lys189Arg, XP_047287591.1:p.Lys246Arg, XP_047287607.1:p.Lys234Arg, XP_047287657.1:p.Lys217Arg, XP_047287658.1:p.Lys216Arg, XP_047287594.1:p.Lys242Arg, XP_047287629.1:p.Lys249Arg, XP_047287614.1:p.Lys230Arg, XP_047287633.1:p.Lys237Arg, XP_047287631.1:p.Lys237Arg, XP_047287637.1:p.Lys230Arg, XP_047287635.1:p.Lys236Arg, XP_047287643.1:p.Lys224Arg, XP_047287665.1:p.Lys229Arg, XP_047287666.1:p.Lys228Arg, XP_047287668.1:p.Lys217Arg, XP_047287676.1:p.Lys216Arg, XP_047287613.1:p.Lys230Arg, XP_047287626.1:p.Lys229Arg, XP_047287660.1:p.Lys237Arg, XP_047287659.1:p.Lys237Arg, XP_047287662.1:p.Lys236Arg, XP_047287688.1:p.Lys216Arg, XP_047287682.1:p.Lys236Arg, XP_047287685.1:p.Lys225Arg, XP_047287686.1:p.Lys224Arg

                        12.

                        rs1455543251 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          1:151238209 (GRCh38)
                          1:151210685 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:151238208:T:A
                          Gene:
                          PIP5K1A (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000001.11:g.151238209T>A, NC_000001.10:g.151210685T>A, XM_005245530.6:c.1149T>A, XM_005245530.5:c.1149T>A, XM_005245530.4:c.1149T>A, XM_005245530.3:c.1149T>A, XM_005245530.2:c.1149T>A, XM_005245530.1:c.1149T>A, XM_005245525.6:c.1203T>A, XM_005245525.5:c.1203T>A, XM_005245525.4:c.1203T>A, XM_005245525.3:c.1203T>A, XM_005245525.2:c.1203T>A, XM_005245525.1:c.1203T>A, XM_005245528.6:c.1167T>A, XM_005245528.5:c.1167T>A, XM_005245528.4:c.1167T>A, XM_005245528.3:c.1167T>A, XM_005245528.2:c.1167T>A, XM_005245528.1:c.1167T>A, XM_005245532.5:c.1113T>A, XM_005245532.4:c.1113T>A, XM_005245532.3:c.1113T>A, XM_005245532.2:c.1113T>A, XM_005245532.1:c.1113T>A, XM_006711567.5:c.1065T>A, XM_006711567.4:c.1065T>A, XM_006711567.3:c.1065T>A, XM_006711567.2:c.1065T>A, XM_006711567.1:c.1065T>A, XM_006711563.5:c.1209T>A, XM_006711563.4:c.1209T>A, XM_006711563.3:c.1209T>A, XM_006711563.2:c.1209T>A, XM_006711563.1:c.1209T>A, XM_006711564.5:c.1173T>A, XM_006711564.4:c.1173T>A, XM_006711564.3:c.1173T>A, XM_006711564.2:c.1173T>A, XM_006711564.1:c.1173T>A, XM_005245527.5:c.1170T>A, XM_005245527.4:c.1170T>A, XM_005245527.3:c.1170T>A, XM_005245527.2:c.1170T>A, XM_005245527.1:c.1170T>A, XM_006711568.5:c.1188T>A, XM_006711568.4:c.1188T>A, XM_006711568.3:c.1188T>A, XM_006711568.2:c.1188T>A, XM_006711568.1:c.1065T>A, XM_011510045.4:c.1146T>A, XM_011510045.3:c.1146T>A, XM_011510045.2:c.1146T>A, XM_011510045.1:c.1146T>A, XM_011510046.4:c.1110T>A, XM_011510046.3:c.1110T>A, XM_011510046.2:c.1110T>A, XM_011510046.1:c.1110T>A, XM_011510049.4:c.1065T>A, XM_011510049.3:c.1065T>A, XM_011510049.2:c.1065T>A, XM_011510049.1:c.1065T>A, XM_011510043.4:c.1152T>A, XM_011510043.3:c.1152T>A, XM_011510043.2:c.1152T>A, XM_011510043.1:c.1152T>A, NM_003557.3:c.1134T>A, NM_003557.2:c.1134T>A, XM_024450131.2:c.1029T>A, XM_024450131.1:c.1029T>A, NM_001135638.2:c.1173T>A, NM_001135638.1:c.1173T>A, XM_024450129.2:c.1185T>A, XM_024450129.1:c.1185T>A, NM_001330689.2:c.1137T>A, NM_001330689.1:c.1137T>A, NM_001135637.2:c.1134T>A, NM_001135637.1:c.1134T>A, XM_024450130.2:c.1149T>A, XM_024450130.1:c.1149T>A, XM_017002439.2:c.1137T>A, XM_017002439.1:c.1137T>A, XM_017002440.2:c.1134T>A, XM_017002440.1:c.1134T>A, XM_047431682.1:c.1065T>A, XM_047431698.1:c.1029T>A, XM_047431694.1:c.1029T>A, XM_047431635.1:c.1200T>A, XM_047431651.1:c.1164T>A, XM_047431638.1:c.1188T>A, XM_047431658.1:c.1152T>A, XM_047431709.1:c.1149T>A, XM_047431710.1:c.1146T>A, XM_047431712.1:c.1113T>A, XM_047431720.1:c.1110T>A, XM_047431657.1:c.1152T>A, XM_047431670.1:c.1149T>A, XM_047431704.1:c.1173T>A, XM_047431703.1:c.1173T>A, XM_047431706.1:c.1170T>A, XP_005245587.1:p.Ser383Arg, XP_005245582.1:p.Ser401Arg, XP_005245585.1:p.Ser389Arg, XP_005245589.1:p.Ser371Arg, XP_006711630.1:p.Ser355Arg, XP_006711626.1:p.Ser403Arg, XP_006711627.1:p.Ser391Arg, XP_005245584.1:p.Ser390Arg, XP_006711631.2:p.Ser396Arg, XP_011508347.1:p.Ser382Arg, XP_011508348.1:p.Ser370Arg, XP_011508351.1:p.Ser355Arg, XP_011508345.1:p.Ser384Arg, NP_003548.1:p.Ser378Arg, XP_024305899.1:p.Ser343Arg, NP_001129110.1:p.Ser391Arg, XP_024305897.1:p.Ser395Arg, NP_001317618.1:p.Ser379Arg, NP_001129109.1:p.Ser378Arg, XP_024305898.1:p.Ser383Arg, XP_016857928.1:p.Ser379Arg, XP_016857929.1:p.Ser378Arg, XP_047287638.1:p.Ser355Arg, XP_047287654.1:p.Ser343Arg, XP_047287650.1:p.Ser343Arg, XP_047287591.1:p.Ser400Arg, XP_047287607.1:p.Ser388Arg, XP_047287594.1:p.Ser396Arg, XP_047287614.1:p.Ser384Arg, XP_047287665.1:p.Ser383Arg, XP_047287666.1:p.Ser382Arg, XP_047287668.1:p.Ser371Arg, XP_047287676.1:p.Ser370Arg, XP_047287613.1:p.Ser384Arg, XP_047287626.1:p.Ser383Arg, XP_047287660.1:p.Ser391Arg, XP_047287659.1:p.Ser391Arg, XP_047287662.1:p.Ser390Arg

                          13.

                          rs1454234567 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            1:151240023 (GRCh38)
                            1:151212499 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:151240022:A:G
                            Gene:
                            PIP5K1A (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.151240023A>G, NC_000001.10:g.151212499A>G, XM_005245530.6:c.1323A>G, XM_005245530.5:c.1323A>G, XM_005245530.4:c.1323A>G, XM_005245530.3:c.1323A>G, XM_005245530.2:c.1323A>G, XM_005245530.1:c.1323A>G, XM_005245525.6:c.1377A>G, XM_005245525.5:c.1377A>G, XM_005245525.4:c.1377A>G, XM_005245525.3:c.1377A>G, XM_005245525.2:c.1377A>G, XM_005245525.1:c.1377A>G, XM_005245528.6:c.1341A>G, XM_005245528.5:c.1341A>G, XM_005245528.4:c.1341A>G, XM_005245528.3:c.1341A>G, XM_005245528.2:c.1341A>G, XM_005245528.1:c.1341A>G, XM_005245532.5:c.1287A>G, XM_005245532.4:c.1287A>G, XM_005245532.3:c.1287A>G, XM_005245532.2:c.1287A>G, XM_005245532.1:c.1287A>G, XM_006711567.5:c.1239A>G, XM_006711567.4:c.1239A>G, XM_006711567.3:c.1239A>G, XM_006711567.2:c.1239A>G, XM_006711567.1:c.1239A>G, XM_006711563.5:c.1383A>G, XM_006711563.4:c.1383A>G, XM_006711563.3:c.1383A>G, XM_006711563.2:c.1383A>G, XM_006711563.1:c.1383A>G, XM_006711564.5:c.1347A>G, XM_006711564.4:c.1347A>G, XM_006711564.3:c.1347A>G, XM_006711564.2:c.1347A>G, XM_006711564.1:c.1347A>G, XM_005245527.5:c.1344A>G, XM_005245527.4:c.1344A>G, XM_005245527.3:c.1344A>G, XM_005245527.2:c.1344A>G, XM_005245527.1:c.1344A>G, XM_006711568.5:c.1362A>G, XM_006711568.4:c.1362A>G, XM_006711568.3:c.1362A>G, XM_006711568.2:c.1362A>G, XM_006711568.1:c.1239A>G, XM_011510045.4:c.1320A>G, XM_011510045.3:c.1320A>G, XM_011510045.2:c.1320A>G, XM_011510045.1:c.1320A>G, XM_011510046.4:c.1284A>G, XM_011510046.3:c.1284A>G, XM_011510046.2:c.1284A>G, XM_011510046.1:c.1284A>G, XM_011510049.4:c.1239A>G, XM_011510049.3:c.1239A>G, XM_011510049.2:c.1239A>G, XM_011510049.1:c.1239A>G, XM_011510043.4:c.1326A>G, XM_011510043.3:c.1326A>G, XM_011510043.2:c.1326A>G, XM_011510043.1:c.1326A>G, NM_003557.3:c.1308A>G, NM_003557.2:c.1308A>G, XM_024450131.2:c.1203A>G, XM_024450131.1:c.1203A>G, NM_001135638.2:c.1347A>G, NM_001135638.1:c.1347A>G, XM_024450129.2:c.1359A>G, XM_024450129.1:c.1359A>G, NM_001330689.2:c.1311A>G, NM_001330689.1:c.1311A>G, NM_001135636.2:c.1227A>G, NM_001135636.1:c.1227A>G, NM_001135637.2:c.1308A>G, NM_001135637.1:c.1308A>G, XM_024450130.2:c.1323A>G, XM_024450130.1:c.1323A>G, XM_017002439.2:c.1311A>G, XM_017002439.1:c.1311A>G, XM_017002440.2:c.1308A>G, XM_017002440.1:c.1308A>G, XM_047431682.1:c.1239A>G, XM_047431698.1:c.1203A>G, XM_047431694.1:c.1203A>G, XM_047431635.1:c.1374A>G, XM_047431651.1:c.1338A>G, XM_047431701.1:c.1203A>G, XM_047431702.1:c.1200A>G, XM_047431638.1:c.1362A>G, XM_047431673.1:c.1299A>G, XM_047431658.1:c.1326A>G, XM_047431677.1:c.1263A>G, XM_047431675.1:c.1263A>G, XM_047431681.1:c.1242A>G, XM_047431679.1:c.1260A>G, XM_047431687.1:c.1224A>G, XM_047431709.1:c.1323A>G, XM_047431710.1:c.1320A>G, XM_047431712.1:c.1287A>G, XM_047431720.1:c.1284A>G, XM_047431657.1:c.1326A>G, XM_047431670.1:c.1323A>G, XM_047431704.1:c.1347A>G, XM_047431703.1:c.1347A>G, XM_047431706.1:c.1344A>G, XM_047431732.1:c.1200A>G, XM_047431726.1:c.1260A>G, XM_047431729.1:c.1227A>G, XM_047431730.1:c.1224A>G

                            14.

                            rs1452699956 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              1:151242194 (GRCh38)
                              1:151214670 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:151242193:T:G
                              Gene:
                              PIP5K1A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.151242194T>G, NC_000001.10:g.151214670T>G, XM_005245530.6:c.1411T>G, XM_005245530.5:c.1411T>G, XM_005245530.4:c.1411T>G, XM_005245530.3:c.1411T>G, XM_005245530.2:c.1411T>G, XM_005245530.1:c.1411T>G, XM_005245525.6:c.1465T>G, XM_005245525.5:c.1465T>G, XM_005245525.4:c.1465T>G, XM_005245525.3:c.1465T>G, XM_005245525.2:c.1465T>G, XM_005245525.1:c.1465T>G, XM_005245528.6:c.1429T>G, XM_005245528.5:c.1429T>G, XM_005245528.4:c.1429T>G, XM_005245528.3:c.1429T>G, XM_005245528.2:c.1429T>G, XM_005245528.1:c.1429T>G, XM_005245532.5:c.1375T>G, XM_005245532.4:c.1375T>G, XM_005245532.3:c.1375T>G, XM_005245532.2:c.1375T>G, XM_005245532.1:c.1375T>G, XM_006711567.5:c.1327T>G, XM_006711567.4:c.1327T>G, XM_006711567.3:c.1327T>G, XM_006711567.2:c.1327T>G, XM_006711567.1:c.1327T>G, XM_006711563.5:c.1471T>G, XM_006711563.4:c.1471T>G, XM_006711563.3:c.1471T>G, XM_006711563.2:c.1471T>G, XM_006711563.1:c.1471T>G, XM_006711564.5:c.1435T>G, XM_006711564.4:c.1435T>G, XM_006711564.3:c.1435T>G, XM_006711564.2:c.1435T>G, XM_006711564.1:c.1435T>G, XM_005245527.5:c.1432T>G, XM_005245527.4:c.1432T>G, XM_005245527.3:c.1432T>G, XM_005245527.2:c.1432T>G, XM_005245527.1:c.1432T>G, XM_006711568.5:c.1450T>G, XM_006711568.4:c.1450T>G, XM_006711568.3:c.1450T>G, XM_006711568.2:c.1450T>G, XM_006711568.1:c.1327T>G, XM_011510045.4:c.1408T>G, XM_011510045.3:c.1408T>G, XM_011510045.2:c.1408T>G, XM_011510045.1:c.1408T>G, XM_011510046.4:c.1372T>G, XM_011510046.3:c.1372T>G, XM_011510046.2:c.1372T>G, XM_011510046.1:c.1372T>G, XM_011510049.4:c.1327T>G, XM_011510049.3:c.1327T>G, XM_011510049.2:c.1327T>G, XM_011510049.1:c.1327T>G, XM_011510043.4:c.1414T>G, XM_011510043.3:c.1414T>G, XM_011510043.2:c.1414T>G, XM_011510043.1:c.1414T>G, NM_003557.3:c.1396T>G, NM_003557.2:c.1396T>G, XM_024450131.2:c.1291T>G, XM_024450131.1:c.1291T>G, NM_001135638.2:c.1435T>G, NM_001135638.1:c.1435T>G, XM_024450129.2:c.1447T>G, XM_024450129.1:c.1447T>G, NM_001330689.2:c.1399T>G, NM_001330689.1:c.1399T>G, NM_001135636.2:c.1315T>G, NM_001135636.1:c.1315T>G, XM_024450130.2:c.1411T>G, XM_024450130.1:c.1411T>G, XM_047431682.1:c.1327T>G, XM_047431698.1:c.1291T>G, XM_047431694.1:c.1291T>G, XM_047431635.1:c.1462T>G, XM_047431651.1:c.1426T>G, XM_047431701.1:c.1291T>G, XM_047431702.1:c.1288T>G, XM_047431638.1:c.1450T>G, XM_047431673.1:c.1387T>G, XM_047431658.1:c.1414T>G, XM_047431677.1:c.1351T>G, XM_047431675.1:c.1351T>G, XM_047431681.1:c.1330T>G, XM_047431679.1:c.1348T>G, XM_047431687.1:c.1312T>G, XM_047431657.1:c.1414T>G, XM_047431670.1:c.1411T>G, XP_005245587.1:p.Ser471Ala, XP_005245582.1:p.Ser489Ala, XP_005245585.1:p.Ser477Ala, XP_005245589.1:p.Ser459Ala, XP_006711630.1:p.Ser443Ala, XP_006711626.1:p.Ser491Ala, XP_006711627.1:p.Ser479Ala, XP_005245584.1:p.Ser478Ala, XP_006711631.2:p.Ser484Ala, XP_011508347.1:p.Ser470Ala, XP_011508348.1:p.Ser458Ala, XP_011508351.1:p.Ser443Ala, XP_011508345.1:p.Ser472Ala, NP_003548.1:p.Ser466Ala, XP_024305899.1:p.Ser431Ala, NP_001129110.1:p.Ser479Ala, XP_024305897.1:p.Ser483Ala, NP_001317618.1:p.Ser467Ala, NP_001129108.1:p.Ser439Ala, XP_024305898.1:p.Ser471Ala, XP_047287638.1:p.Ser443Ala, XP_047287654.1:p.Ser431Ala, XP_047287650.1:p.Ser431Ala, XP_047287591.1:p.Ser488Ala, XP_047287607.1:p.Ser476Ala, XP_047287657.1:p.Ser431Ala, XP_047287658.1:p.Ser430Ala, XP_047287594.1:p.Ser484Ala, XP_047287629.1:p.Ser463Ala, XP_047287614.1:p.Ser472Ala, XP_047287633.1:p.Ser451Ala, XP_047287631.1:p.Ser451Ala, XP_047287637.1:p.Ser444Ala, XP_047287635.1:p.Ser450Ala, XP_047287643.1:p.Ser438Ala, XP_047287613.1:p.Ser472Ala, XP_047287626.1:p.Ser471Ala

                              15.

                              rs1449288957 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->C [Show Flanks]
                                Chromosome:
                                1:151199017 (GRCh38)
                                1:151171494 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:151199017:CC:CCC
                                Gene:
                                PIP5K1A (Varview), LOC124904419 (Varview)
                                Functional Consequence:
                                5_prime_UTR_variant,coding_sequence_variant,frameshift_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCC=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000001.11:g.151199019dup, NC_000001.10:g.151171495dup, XM_005245530.6:c.-108dup, XM_005245525.6:c.23dup, XM_005245525.5:c.23dup, XM_005245525.4:c.23dup, XM_005245525.3:c.23dup, XM_005245525.2:c.23dup, XM_005245525.1:c.23dup, XM_005245528.6:c.23dup, XM_005245528.5:c.23dup, XM_005245528.4:c.23dup, XM_005245528.3:c.23dup, XM_005245528.2:c.23dup, XM_005245528.1:c.23dup, XM_005245532.5:c.-108dup, XM_005245532.4:c.-108dup, XM_005245532.3:c.-108dup, XM_005245532.2:c.-108dup, XM_005245532.1:c.-108dup, XM_006711567.5:c.-154dup, XM_006711563.5:c.23dup, XM_006711563.4:c.23dup, XM_006711563.3:c.23dup, XM_006711563.2:c.23dup, XM_006711563.1:c.23dup, XM_006711564.5:c.23dup, XM_006711564.4:c.23dup, XM_006711564.3:c.23dup, XM_006711564.2:c.23dup, XM_006711564.1:c.23dup, XM_005245527.5:c.23dup, XM_005245527.4:c.23dup, XM_005245527.3:c.23dup, XM_005245527.2:c.23dup, XM_005245527.1:c.23dup, XM_011510045.4:c.-108dup, XM_011510046.4:c.-108dup, XM_011510046.3:c.-108dup, XM_011510046.2:c.-108dup, XM_011510049.4:c.-151dup, NM_003557.3:c.23dup, NM_003557.2:c.23dup, NM_001135638.2:c.23dup, NM_001135638.1:c.23dup, NM_001330689.2:c.23dup, NM_001330689.1:c.23dup, NM_001135636.2:c.23dup, NM_001135636.1:c.23dup, NM_001135637.2:c.23dup, NM_001135637.1:c.23dup, XM_017002439.2:c.23dup, XM_017002439.1:c.23dup, XM_017002440.2:c.23dup, XM_017002440.1:c.23dup, XM_047431698.1:c.-154dup, XM_047431694.1:c.-151dup, XM_047431635.1:c.23dup, XM_047431651.1:c.23dup, XM_047431701.1:c.-108dup, XM_047431702.1:c.-108dup, XM_047431673.1:c.23dup, XM_047431677.1:c.23dup, XM_047431675.1:c.23dup, XM_047431679.1:c.23dup, XM_047431687.1:c.23dup, XM_047431709.1:c.-108dup, XM_047431710.1:c.-108dup, XM_047431712.1:c.-108dup, XM_047431720.1:c.-108dup, XM_047431704.1:c.23dup, XM_047431703.1:c.23dup, XM_047431706.1:c.23dup, XM_047431732.1:c.-108dup, XM_047431726.1:c.23dup, XM_047431729.1:c.23dup, XM_047431730.1:c.23dup, XP_005245582.1:p.Ser9fs, XP_005245585.1:p.Ser9fs, XP_006711626.1:p.Ser9fs, XP_006711627.1:p.Ser9fs, XP_005245584.1:p.Ser9fs, NP_003548.1:p.Ser9fs, NP_001129110.1:p.Ser9fs, NP_001317618.1:p.Ser9fs, NP_001129108.1:p.Ser9fs, NP_001129109.1:p.Ser9fs, XP_016857928.1:p.Ser9fs, XP_016857929.1:p.Ser9fs, XP_047287591.1:p.Ser9fs, XP_047287607.1:p.Ser9fs, XP_047287629.1:p.Ser9fs, XP_047287633.1:p.Ser9fs, XP_047287631.1:p.Ser9fs, XP_047287635.1:p.Ser9fs, XP_047287643.1:p.Ser9fs, XP_047287660.1:p.Ser9fs, XP_047287659.1:p.Ser9fs, XP_047287662.1:p.Ser9fs, XP_047287682.1:p.Ser9fs, XP_047287685.1:p.Ser9fs, XP_047287686.1:p.Ser9fs

                                16.

                                rs1447445559 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:151236761 (GRCh38)
                                  1:151209237 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:151236760:C:G
                                  Gene:
                                  PIP5K1A (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_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_000001.11:g.151236761C>G, NC_000001.10:g.151209237C>G, XM_005245530.6:c.1119C>G, XM_005245530.5:c.1119C>G, XM_005245530.4:c.1119C>G, XM_005245530.3:c.1119C>G, XM_005245530.2:c.1119C>G, XM_005245530.1:c.1119C>G, XM_005245525.6:c.1173C>G, XM_005245525.5:c.1173C>G, XM_005245525.4:c.1173C>G, XM_005245525.3:c.1173C>G, XM_005245525.2:c.1173C>G, XM_005245525.1:c.1173C>G, XM_005245528.6:c.1137C>G, XM_005245528.5:c.1137C>G, XM_005245528.4:c.1137C>G, XM_005245528.3:c.1137C>G, XM_005245528.2:c.1137C>G, XM_005245528.1:c.1137C>G, XM_005245532.5:c.1083C>G, XM_005245532.4:c.1083C>G, XM_005245532.3:c.1083C>G, XM_005245532.2:c.1083C>G, XM_005245532.1:c.1083C>G, XM_006711567.5:c.1035C>G, XM_006711567.4:c.1035C>G, XM_006711567.3:c.1035C>G, XM_006711567.2:c.1035C>G, XM_006711567.1:c.1035C>G, XM_006711563.5:c.1179C>G, XM_006711563.4:c.1179C>G, XM_006711563.3:c.1179C>G, XM_006711563.2:c.1179C>G, XM_006711563.1:c.1179C>G, XM_006711564.5:c.1143C>G, XM_006711564.4:c.1143C>G, XM_006711564.3:c.1143C>G, XM_006711564.2:c.1143C>G, XM_006711564.1:c.1143C>G, XM_005245527.5:c.1140C>G, XM_005245527.4:c.1140C>G, XM_005245527.3:c.1140C>G, XM_005245527.2:c.1140C>G, XM_005245527.1:c.1140C>G, XM_006711568.5:c.1158C>G, XM_006711568.4:c.1158C>G, XM_006711568.3:c.1158C>G, XM_006711568.2:c.1158C>G, XM_006711568.1:c.1035C>G, XM_011510045.4:c.1116C>G, XM_011510045.3:c.1116C>G, XM_011510045.2:c.1116C>G, XM_011510045.1:c.1116C>G, XM_011510046.4:c.1080C>G, XM_011510046.3:c.1080C>G, XM_011510046.2:c.1080C>G, XM_011510046.1:c.1080C>G, XM_011510049.4:c.1035C>G, XM_011510049.3:c.1035C>G, XM_011510049.2:c.1035C>G, XM_011510049.1:c.1035C>G, XM_011510043.4:c.1122C>G, XM_011510043.3:c.1122C>G, XM_011510043.2:c.1122C>G, XM_011510043.1:c.1122C>G, NM_003557.3:c.1104C>G, NM_003557.2:c.1104C>G, XM_024450131.2:c.999C>G, XM_024450131.1:c.999C>G, NM_001135638.2:c.1143C>G, NM_001135638.1:c.1143C>G, XM_024450129.2:c.1155C>G, XM_024450129.1:c.1155C>G, NM_001330689.2:c.1107C>G, NM_001330689.1:c.1107C>G, NM_001135636.2:c.1107C>G, NM_001135636.1:c.1107C>G, NM_001135637.2:c.1104C>G, NM_001135637.1:c.1104C>G, XM_024450130.2:c.1119C>G, XM_024450130.1:c.1119C>G, XM_017002439.2:c.1107C>G, XM_017002439.1:c.1107C>G, XM_017002440.2:c.1104C>G, XM_017002440.1:c.1104C>G, XM_047431682.1:c.1035C>G, XM_047431698.1:c.999C>G, XM_047431694.1:c.999C>G, XM_047431635.1:c.1170C>G, XM_047431651.1:c.1134C>G, XM_047431701.1:c.1083C>G, XM_047431702.1:c.1080C>G, XM_047431638.1:c.1158C>G, XM_047431673.1:c.1179C>G, XM_047431658.1:c.1122C>G, XM_047431677.1:c.1143C>G, XM_047431675.1:c.1143C>G, XM_047431681.1:c.1122C>G, XM_047431679.1:c.1140C>G, XM_047431687.1:c.1104C>G, XM_047431709.1:c.1119C>G, XM_047431710.1:c.1116C>G, XM_047431712.1:c.1083C>G, XM_047431720.1:c.1080C>G, XM_047431657.1:c.1122C>G, XM_047431670.1:c.1119C>G, XM_047431704.1:c.1143C>G, XM_047431703.1:c.1143C>G, XM_047431706.1:c.1140C>G, XM_047431732.1:c.1080C>G, XM_047431726.1:c.1140C>G, XM_047431729.1:c.1107C>G, XM_047431730.1:c.1104C>G, XP_005245587.1:p.Asp373Glu, XP_005245582.1:p.Asp391Glu, XP_005245585.1:p.Asp379Glu, XP_005245589.1:p.Asp361Glu, XP_006711630.1:p.Asp345Glu, XP_006711626.1:p.Asp393Glu, XP_006711627.1:p.Asp381Glu, XP_005245584.1:p.Asp380Glu, XP_006711631.2:p.Asp386Glu, XP_011508347.1:p.Asp372Glu, XP_011508348.1:p.Asp360Glu, XP_011508351.1:p.Asp345Glu, XP_011508345.1:p.Asp374Glu, NP_003548.1:p.Asp368Glu, XP_024305899.1:p.Asp333Glu, NP_001129110.1:p.Asp381Glu, XP_024305897.1:p.Asp385Glu, NP_001317618.1:p.Asp369Glu, NP_001129108.1:p.Asp369Glu, NP_001129109.1:p.Asp368Glu, XP_024305898.1:p.Asp373Glu, XP_016857928.1:p.Asp369Glu, XP_016857929.1:p.Asp368Glu, XP_047287638.1:p.Asp345Glu, XP_047287654.1:p.Asp333Glu, XP_047287650.1:p.Asp333Glu, XP_047287591.1:p.Asp390Glu, XP_047287607.1:p.Asp378Glu, XP_047287657.1:p.Asp361Glu, XP_047287658.1:p.Asp360Glu, XP_047287594.1:p.Asp386Glu, XP_047287629.1:p.Asp393Glu, XP_047287614.1:p.Asp374Glu, XP_047287633.1:p.Asp381Glu, XP_047287631.1:p.Asp381Glu, XP_047287637.1:p.Asp374Glu, XP_047287635.1:p.Asp380Glu, XP_047287643.1:p.Asp368Glu, XP_047287665.1:p.Asp373Glu, XP_047287666.1:p.Asp372Glu, XP_047287668.1:p.Asp361Glu, XP_047287676.1:p.Asp360Glu, XP_047287613.1:p.Asp374Glu, XP_047287626.1:p.Asp373Glu, XP_047287660.1:p.Asp381Glu, XP_047287659.1:p.Asp381Glu, XP_047287662.1:p.Asp380Glu, XP_047287688.1:p.Asp360Glu, XP_047287682.1:p.Asp380Glu, XP_047287685.1:p.Asp369Glu, XP_047287686.1:p.Asp368Glu

                                  17.

                                  rs1446207478 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    1:151236602 (GRCh38)
                                    1:151209078 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:151236601:A:G
                                    Gene:
                                    PIP5K1A (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000001.11:g.151236602A>G, NC_000001.10:g.151209078A>G, XM_005245530.6:c.960A>G, XM_005245530.5:c.960A>G, XM_005245530.4:c.960A>G, XM_005245530.3:c.960A>G, XM_005245530.2:c.960A>G, XM_005245530.1:c.960A>G, XM_005245525.6:c.1014A>G, XM_005245525.5:c.1014A>G, XM_005245525.4:c.1014A>G, XM_005245525.3:c.1014A>G, XM_005245525.2:c.1014A>G, XM_005245525.1:c.1014A>G, XM_005245528.6:c.978A>G, XM_005245528.5:c.978A>G, XM_005245528.4:c.978A>G, XM_005245528.3:c.978A>G, XM_005245528.2:c.978A>G, XM_005245528.1:c.978A>G, XM_005245532.5:c.924A>G, XM_005245532.4:c.924A>G, XM_005245532.3:c.924A>G, XM_005245532.2:c.924A>G, XM_005245532.1:c.924A>G, XM_006711567.5:c.876A>G, XM_006711567.4:c.876A>G, XM_006711567.3:c.876A>G, XM_006711567.2:c.876A>G, XM_006711567.1:c.876A>G, XM_006711563.5:c.1020A>G, XM_006711563.4:c.1020A>G, XM_006711563.3:c.1020A>G, XM_006711563.2:c.1020A>G, XM_006711563.1:c.1020A>G, XM_006711564.5:c.984A>G, XM_006711564.4:c.984A>G, XM_006711564.3:c.984A>G, XM_006711564.2:c.984A>G, XM_006711564.1:c.984A>G, XM_005245527.5:c.981A>G, XM_005245527.4:c.981A>G, XM_005245527.3:c.981A>G, XM_005245527.2:c.981A>G, XM_005245527.1:c.981A>G, XM_006711568.5:c.999A>G, XM_006711568.4:c.999A>G, XM_006711568.3:c.999A>G, XM_006711568.2:c.999A>G, XM_006711568.1:c.876A>G, XM_011510045.4:c.957A>G, XM_011510045.3:c.957A>G, XM_011510045.2:c.957A>G, XM_011510045.1:c.957A>G, XM_011510046.4:c.921A>G, XM_011510046.3:c.921A>G, XM_011510046.2:c.921A>G, XM_011510046.1:c.921A>G, XM_011510049.4:c.876A>G, XM_011510049.3:c.876A>G, XM_011510049.2:c.876A>G, XM_011510049.1:c.876A>G, XM_011510043.4:c.963A>G, XM_011510043.3:c.963A>G, XM_011510043.2:c.963A>G, XM_011510043.1:c.963A>G, NM_003557.3:c.945A>G, NM_003557.2:c.945A>G, XM_024450131.2:c.840A>G, XM_024450131.1:c.840A>G, NM_001135638.2:c.984A>G, NM_001135638.1:c.984A>G, XM_024450129.2:c.996A>G, XM_024450129.1:c.996A>G, NM_001330689.2:c.948A>G, NM_001330689.1:c.948A>G, NM_001135636.2:c.948A>G, NM_001135636.1:c.948A>G, NM_001135637.2:c.945A>G, NM_001135637.1:c.945A>G, XM_024450130.2:c.960A>G, XM_024450130.1:c.960A>G, XM_017002439.2:c.948A>G, XM_017002439.1:c.948A>G, XM_017002440.2:c.945A>G, XM_017002440.1:c.945A>G, XM_047431682.1:c.876A>G, XM_047431698.1:c.840A>G, XM_047431694.1:c.840A>G, XM_047431635.1:c.1011A>G, XM_047431651.1:c.975A>G, XM_047431701.1:c.924A>G, XM_047431702.1:c.921A>G, XM_047431638.1:c.999A>G, XM_047431673.1:c.1020A>G, XM_047431658.1:c.963A>G, XM_047431677.1:c.984A>G, XM_047431675.1:c.984A>G, XM_047431681.1:c.963A>G, XM_047431679.1:c.981A>G, XM_047431687.1:c.945A>G, XM_047431709.1:c.960A>G, XM_047431710.1:c.957A>G, XM_047431712.1:c.924A>G, XM_047431720.1:c.921A>G, XM_047431657.1:c.963A>G, XM_047431670.1:c.960A>G, XM_047431704.1:c.984A>G, XM_047431703.1:c.984A>G, XM_047431706.1:c.981A>G, XM_047431732.1:c.921A>G, XM_047431726.1:c.981A>G, XM_047431729.1:c.948A>G, XM_047431730.1:c.945A>G

                                    18.

                                    rs1444188031 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:151240001 (GRCh38)
                                      1:151212477 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:151240000:A:G
                                      Gene:
                                      PIP5K1A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_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_000001.11:g.151240001A>G, NC_000001.10:g.151212477A>G, XM_005245530.6:c.1301A>G, XM_005245530.5:c.1301A>G, XM_005245530.4:c.1301A>G, XM_005245530.3:c.1301A>G, XM_005245530.2:c.1301A>G, XM_005245530.1:c.1301A>G, XM_005245525.6:c.1355A>G, XM_005245525.5:c.1355A>G, XM_005245525.4:c.1355A>G, XM_005245525.3:c.1355A>G, XM_005245525.2:c.1355A>G, XM_005245525.1:c.1355A>G, XM_005245528.6:c.1319A>G, XM_005245528.5:c.1319A>G, XM_005245528.4:c.1319A>G, XM_005245528.3:c.1319A>G, XM_005245528.2:c.1319A>G, XM_005245528.1:c.1319A>G, XM_005245532.5:c.1265A>G, XM_005245532.4:c.1265A>G, XM_005245532.3:c.1265A>G, XM_005245532.2:c.1265A>G, XM_005245532.1:c.1265A>G, XM_006711567.5:c.1217A>G, XM_006711567.4:c.1217A>G, XM_006711567.3:c.1217A>G, XM_006711567.2:c.1217A>G, XM_006711567.1:c.1217A>G, XM_006711563.5:c.1361A>G, XM_006711563.4:c.1361A>G, XM_006711563.3:c.1361A>G, XM_006711563.2:c.1361A>G, XM_006711563.1:c.1361A>G, XM_006711564.5:c.1325A>G, XM_006711564.4:c.1325A>G, XM_006711564.3:c.1325A>G, XM_006711564.2:c.1325A>G, XM_006711564.1:c.1325A>G, XM_005245527.5:c.1322A>G, XM_005245527.4:c.1322A>G, XM_005245527.3:c.1322A>G, XM_005245527.2:c.1322A>G, XM_005245527.1:c.1322A>G, XM_006711568.5:c.1340A>G, XM_006711568.4:c.1340A>G, XM_006711568.3:c.1340A>G, XM_006711568.2:c.1340A>G, XM_006711568.1:c.1217A>G, XM_011510045.4:c.1298A>G, XM_011510045.3:c.1298A>G, XM_011510045.2:c.1298A>G, XM_011510045.1:c.1298A>G, XM_011510046.4:c.1262A>G, XM_011510046.3:c.1262A>G, XM_011510046.2:c.1262A>G, XM_011510046.1:c.1262A>G, XM_011510049.4:c.1217A>G, XM_011510049.3:c.1217A>G, XM_011510049.2:c.1217A>G, XM_011510049.1:c.1217A>G, XM_011510043.4:c.1304A>G, XM_011510043.3:c.1304A>G, XM_011510043.2:c.1304A>G, XM_011510043.1:c.1304A>G, NM_003557.3:c.1286A>G, NM_003557.2:c.1286A>G, XM_024450131.2:c.1181A>G, XM_024450131.1:c.1181A>G, NM_001135638.2:c.1325A>G, NM_001135638.1:c.1325A>G, XM_024450129.2:c.1337A>G, XM_024450129.1:c.1337A>G, NM_001330689.2:c.1289A>G, NM_001330689.1:c.1289A>G, NM_001135636.2:c.1205A>G, NM_001135636.1:c.1205A>G, NM_001135637.2:c.1286A>G, NM_001135637.1:c.1286A>G, XM_024450130.2:c.1301A>G, XM_024450130.1:c.1301A>G, XM_017002439.2:c.1289A>G, XM_017002439.1:c.1289A>G, XM_017002440.2:c.1286A>G, XM_017002440.1:c.1286A>G, XM_047431682.1:c.1217A>G, XM_047431698.1:c.1181A>G, XM_047431694.1:c.1181A>G, XM_047431635.1:c.1352A>G, XM_047431651.1:c.1316A>G, XM_047431701.1:c.1181A>G, XM_047431702.1:c.1178A>G, XM_047431638.1:c.1340A>G, XM_047431673.1:c.1277A>G, XM_047431658.1:c.1304A>G, XM_047431677.1:c.1241A>G, XM_047431675.1:c.1241A>G, XM_047431681.1:c.1220A>G, XM_047431679.1:c.1238A>G, XM_047431687.1:c.1202A>G, XM_047431709.1:c.1301A>G, XM_047431710.1:c.1298A>G, XM_047431712.1:c.1265A>G, XM_047431720.1:c.1262A>G, XM_047431657.1:c.1304A>G, XM_047431670.1:c.1301A>G, XM_047431704.1:c.1325A>G, XM_047431703.1:c.1325A>G, XM_047431706.1:c.1322A>G, XM_047431732.1:c.1178A>G, XM_047431726.1:c.1238A>G, XM_047431729.1:c.1205A>G, XM_047431730.1:c.1202A>G, XP_005245587.1:p.Gln434Arg, XP_005245582.1:p.Gln452Arg, XP_005245585.1:p.Gln440Arg, XP_005245589.1:p.Gln422Arg, XP_006711630.1:p.Gln406Arg, XP_006711626.1:p.Gln454Arg, XP_006711627.1:p.Gln442Arg, XP_005245584.1:p.Gln441Arg, XP_006711631.2:p.Gln447Arg, XP_011508347.1:p.Gln433Arg, XP_011508348.1:p.Gln421Arg, XP_011508351.1:p.Gln406Arg, XP_011508345.1:p.Gln435Arg, NP_003548.1:p.Gln429Arg, XP_024305899.1:p.Gln394Arg, NP_001129110.1:p.Gln442Arg, XP_024305897.1:p.Gln446Arg, NP_001317618.1:p.Gln430Arg, NP_001129108.1:p.Gln402Arg, NP_001129109.1:p.Gln429Arg, XP_024305898.1:p.Gln434Arg, XP_016857928.1:p.Gln430Arg, XP_016857929.1:p.Gln429Arg, XP_047287638.1:p.Gln406Arg, XP_047287654.1:p.Gln394Arg, XP_047287650.1:p.Gln394Arg, XP_047287591.1:p.Gln451Arg, XP_047287607.1:p.Gln439Arg, XP_047287657.1:p.Gln394Arg, XP_047287658.1:p.Gln393Arg, XP_047287594.1:p.Gln447Arg, XP_047287629.1:p.Gln426Arg, XP_047287614.1:p.Gln435Arg, XP_047287633.1:p.Gln414Arg, XP_047287631.1:p.Gln414Arg, XP_047287637.1:p.Gln407Arg, XP_047287635.1:p.Gln413Arg, XP_047287643.1:p.Gln401Arg, XP_047287665.1:p.Gln434Arg, XP_047287666.1:p.Gln433Arg, XP_047287668.1:p.Gln422Arg, XP_047287676.1:p.Gln421Arg, XP_047287613.1:p.Gln435Arg, XP_047287626.1:p.Gln434Arg, XP_047287660.1:p.Gln442Arg, XP_047287659.1:p.Gln442Arg, XP_047287662.1:p.Gln441Arg, XP_047287688.1:p.Gln393Arg, XP_047287682.1:p.Gln413Arg, XP_047287685.1:p.Gln402Arg, XP_047287686.1:p.Gln401Arg

                                      19.

                                      rs1440258018 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GTC>- [Show Flanks]
                                        Chromosome:
                                        1:151242453 (GRCh38)
                                        1:151214929 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:151242449:GTCGTC:GTC
                                        Gene:
                                        PIP5K1A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_deletion,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        -=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.151242450GTC[1], NC_000001.10:g.151214926GTC[1], XM_005245530.6:c.1499GTC[1], XM_005245530.5:c.1499GTC[1], XM_005245530.4:c.1499GTC[1], XM_005245530.3:c.1499GTC[1], XM_005245530.2:c.1499GTC[1], XM_005245530.1:c.1499GTC[1], XM_005245525.6:c.1553GTC[1], XM_005245525.5:c.1553GTC[1], XM_005245525.4:c.1553GTC[1], XM_005245525.3:c.1553GTC[1], XM_005245525.2:c.1553GTC[1], XM_005245525.1:c.1553GTC[1], XM_005245528.6:c.1517GTC[1], XM_005245528.5:c.1517GTC[1], XM_005245528.4:c.1517GTC[1], XM_005245528.3:c.1517GTC[1], XM_005245528.2:c.1517GTC[1], XM_005245528.1:c.1517GTC[1], XM_005245532.5:c.1463GTC[1], XM_005245532.4:c.1463GTC[1], XM_005245532.3:c.1463GTC[1], XM_005245532.2:c.1463GTC[1], XM_005245532.1:c.1463GTC[1], XM_006711567.5:c.1415GTC[1], XM_006711567.4:c.1415GTC[1], XM_006711567.3:c.1415GTC[1], XM_006711567.2:c.1415GTC[1], XM_006711567.1:c.1415GTC[1], XM_006711563.5:c.1559GTC[1], XM_006711563.4:c.1559GTC[1], XM_006711563.3:c.1559GTC[1], XM_006711563.2:c.1559GTC[1], XM_006711563.1:c.1559GTC[1], XM_006711564.5:c.1523GTC[1], XM_006711564.4:c.1523GTC[1], XM_006711564.3:c.1523GTC[1], XM_006711564.2:c.1523GTC[1], XM_006711564.1:c.1523GTC[1], XM_005245527.5:c.1520GTC[1], XM_005245527.4:c.1520GTC[1], XM_005245527.3:c.1520GTC[1], XM_005245527.2:c.1520GTC[1], XM_005245527.1:c.1520GTC[1], XM_006711568.5:c.1538GTC[1], XM_006711568.4:c.1538GTC[1], XM_006711568.3:c.1538GTC[1], XM_006711568.2:c.1538GTC[1], XM_006711568.1:c.1415GTC[1], XM_011510045.4:c.1496GTC[1], XM_011510045.3:c.1496GTC[1], XM_011510045.2:c.1496GTC[1], XM_011510045.1:c.1496GTC[1], XM_011510046.4:c.1460GTC[1], XM_011510046.3:c.1460GTC[1], XM_011510046.2:c.1460GTC[1], XM_011510046.1:c.1460GTC[1], XM_011510049.4:c.1415GTC[1], XM_011510049.3:c.1415GTC[1], XM_011510049.2:c.1415GTC[1], XM_011510049.1:c.1415GTC[1], XM_011510043.4:c.1502GTC[1], XM_011510043.3:c.1502GTC[1], XM_011510043.2:c.1502GTC[1], XM_011510043.1:c.1502GTC[1], NM_003557.3:c.1484GTC[1], NM_003557.2:c.1484GTC[1], XM_024450131.2:c.1379GTC[1], XM_024450131.1:c.1379GTC[1], NM_001135638.2:c.1523GTC[1], NM_001135638.1:c.1523GTC[1], XM_024450129.2:c.1535GTC[1], XM_024450129.1:c.1535GTC[1], NM_001330689.2:c.1487GTC[1], NM_001330689.1:c.1487GTC[1], NM_001135636.2:c.1403GTC[1], NM_001135636.1:c.1403GTC[1], NM_001135637.2:c.1337GTC[1], NM_001135637.1:c.1337GTC[1], XM_024450130.2:c.1499GTC[1], XM_024450130.1:c.1499GTC[1], XM_047431682.1:c.1415GTC[1], XM_047431698.1:c.1379GTC[1], XM_047431694.1:c.1379GTC[1], XM_047431635.1:c.1550GTC[1], XM_047431651.1:c.1514GTC[1], XM_047431701.1:c.1379GTC[1], XM_047431702.1:c.1376GTC[1], XM_047431638.1:c.1538GTC[1], XM_047431673.1:c.1475GTC[1], XM_047431658.1:c.1502GTC[1], XM_047431677.1:c.1439GTC[1], XM_047431675.1:c.1439GTC[1], XM_047431681.1:c.1418GTC[1], XM_047431679.1:c.1436GTC[1], XM_047431687.1:c.1400GTC[1], XM_047431657.1:c.1502GTC[1], XM_047431670.1:c.1499GTC[1], XP_005245587.1:p.Arg501del, XP_005245582.1:p.Arg519del, XP_005245585.1:p.Arg507del, XP_005245589.1:p.Arg489del, XP_006711630.1:p.Arg473del, XP_006711626.1:p.Arg521del, XP_006711627.1:p.Arg509del, XP_005245584.1:p.Arg508del, XP_006711631.2:p.Arg514del, XP_011508347.1:p.Arg500del, XP_011508348.1:p.Arg488del, XP_011508351.1:p.Arg473del, XP_011508345.1:p.Arg502del, NP_003548.1:p.Arg496del, XP_024305899.1:p.Arg461del, NP_001129110.1:p.Arg509del, XP_024305897.1:p.Arg513del, NP_001317618.1:p.Arg497del, NP_001129108.1:p.Arg469del, NP_001129109.1:p.Arg447del, XP_024305898.1:p.Arg501del, XP_047287638.1:p.Arg473del, XP_047287654.1:p.Arg461del, XP_047287650.1:p.Arg461del, XP_047287591.1:p.Arg518del, XP_047287607.1:p.Arg506del, XP_047287657.1:p.Arg461del, XP_047287658.1:p.Arg460del, XP_047287594.1:p.Arg514del, XP_047287629.1:p.Arg493del, XP_047287614.1:p.Arg502del, XP_047287633.1:p.Arg481del, XP_047287631.1:p.Arg481del, XP_047287637.1:p.Arg474del, XP_047287635.1:p.Arg480del, XP_047287643.1:p.Arg468del, XP_047287613.1:p.Arg502del, XP_047287626.1:p.Arg501del

                                        20.

                                        rs1438135641 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          C>- [Show Flanks]
                                          Chromosome:
                                          1:151238199 (GRCh38)
                                          1:151210675 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:151238198:CCC:CC
                                          Gene:
                                          PIP5K1A (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          -=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.151238201del, NC_000001.10:g.151210677del, XM_005245530.6:c.1141del, XM_005245530.5:c.1141del, XM_005245530.4:c.1141del, XM_005245530.3:c.1141del, XM_005245530.2:c.1141del, XM_005245530.1:c.1141del, XM_005245525.6:c.1195del, XM_005245525.5:c.1195del, XM_005245525.4:c.1195del, XM_005245525.3:c.1195del, XM_005245525.2:c.1195del, XM_005245525.1:c.1195del, XM_005245528.6:c.1159del, XM_005245528.5:c.1159del, XM_005245528.4:c.1159del, XM_005245528.3:c.1159del, XM_005245528.2:c.1159del, XM_005245528.1:c.1159del, XM_005245532.5:c.1105del, XM_005245532.4:c.1105del, XM_005245532.3:c.1105del, XM_005245532.2:c.1105del, XM_005245532.1:c.1105del, XM_006711567.5:c.1057del, XM_006711567.4:c.1057del, XM_006711567.3:c.1057del, XM_006711567.2:c.1057del, XM_006711567.1:c.1057del, XM_006711563.5:c.1201del, XM_006711563.4:c.1201del, XM_006711563.3:c.1201del, XM_006711563.2:c.1201del, XM_006711563.1:c.1201del, XM_006711564.5:c.1165del, XM_006711564.4:c.1165del, XM_006711564.3:c.1165del, XM_006711564.2:c.1165del, XM_006711564.1:c.1165del, XM_005245527.5:c.1162del, XM_005245527.4:c.1162del, XM_005245527.3:c.1162del, XM_005245527.2:c.1162del, XM_005245527.1:c.1162del, XM_006711568.5:c.1180del, XM_006711568.4:c.1180del, XM_006711568.3:c.1180del, XM_006711568.2:c.1180del, XM_006711568.1:c.1057del, XM_011510045.4:c.1138del, XM_011510045.3:c.1138del, XM_011510045.2:c.1138del, XM_011510045.1:c.1138del, XM_011510046.4:c.1102del, XM_011510046.3:c.1102del, XM_011510046.2:c.1102del, XM_011510046.1:c.1102del, XM_011510049.4:c.1057del, XM_011510049.3:c.1057del, XM_011510049.2:c.1057del, XM_011510049.1:c.1057del, XM_011510043.4:c.1144del, XM_011510043.3:c.1144del, XM_011510043.2:c.1144del, XM_011510043.1:c.1144del, NM_003557.3:c.1126del, NM_003557.2:c.1126del, XM_024450131.2:c.1021del, XM_024450131.1:c.1021del, NM_001135638.2:c.1165del, NM_001135638.1:c.1165del, XM_024450129.2:c.1177del, XM_024450129.1:c.1177del, NM_001330689.2:c.1129del, NM_001330689.1:c.1129del, NM_001135637.2:c.1126del, NM_001135637.1:c.1126del, XM_024450130.2:c.1141del, XM_024450130.1:c.1141del, XM_017002439.2:c.1129del, XM_017002439.1:c.1129del, XM_017002440.2:c.1126del, XM_017002440.1:c.1126del, XM_047431682.1:c.1057del, XM_047431698.1:c.1021del, XM_047431694.1:c.1021del, XM_047431635.1:c.1192del, XM_047431651.1:c.1156del, XM_047431638.1:c.1180del, XM_047431658.1:c.1144del, XM_047431709.1:c.1141del, XM_047431710.1:c.1138del, XM_047431712.1:c.1105del, XM_047431720.1:c.1102del, XM_047431657.1:c.1144del, XM_047431670.1:c.1141del, XM_047431704.1:c.1165del, XM_047431703.1:c.1165del, XM_047431706.1:c.1162del, XP_005245587.1:p.Arg381fs, XP_005245582.1:p.Arg399fs, XP_005245585.1:p.Arg387fs, XP_005245589.1:p.Arg369fs, XP_006711630.1:p.Arg353fs, XP_006711626.1:p.Arg401fs, XP_006711627.1:p.Arg389fs, XP_005245584.1:p.Arg388fs, XP_006711631.2:p.Arg394fs, XP_011508347.1:p.Arg380fs, XP_011508348.1:p.Arg368fs, XP_011508351.1:p.Arg353fs, XP_011508345.1:p.Arg382fs, NP_003548.1:p.Arg376fs, XP_024305899.1:p.Arg341fs, NP_001129110.1:p.Arg389fs, XP_024305897.1:p.Arg393fs, NP_001317618.1:p.Arg377fs, NP_001129109.1:p.Arg376fs, XP_024305898.1:p.Arg381fs, XP_016857928.1:p.Arg377fs, XP_016857929.1:p.Arg376fs, XP_047287638.1:p.Arg353fs, XP_047287654.1:p.Arg341fs, XP_047287650.1:p.Arg341fs, XP_047287591.1:p.Arg398fs, XP_047287607.1:p.Arg386fs, XP_047287594.1:p.Arg394fs, XP_047287614.1:p.Arg382fs, XP_047287665.1:p.Arg381fs, XP_047287666.1:p.Arg380fs, XP_047287668.1:p.Arg369fs, XP_047287676.1:p.Arg368fs, XP_047287613.1:p.Arg382fs, XP_047287626.1:p.Arg381fs, XP_047287660.1:p.Arg389fs, XP_047287659.1:p.Arg389fs, XP_047287662.1:p.Arg388fs

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