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Items: 1 to 20 of 586

1.

rs1490348999 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    7:94911270 (GRCh38)
    7:94540582 (GRCh37)
    Canonical SPDI:
    NC_000007.14:94911269:A:G
    Gene:
    PPP1R9A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000011/3 (TOPMED)
    HGVS:
    NC_000007.14:g.94911270A>G, NC_000007.13:g.94540582A>G, NG_015803.1:g.8634A>G, NM_017650.3:c.1157A>G, NM_017650.2:c.1157A>G, NM_001166160.2:c.1157A>G, NM_001166160.1:c.1157A>G, NM_001166161.1:c.1157A>G, NM_001166162.1:c.1157A>G, NM_001166163.1:c.1157A>G, XM_017012396.2:c.1157A>G, XM_017012396.1:c.1157A>G, XM_011516381.2:c.1157A>G, XM_011516381.1:c.1157A>G, XM_017012395.2:c.1157A>G, XM_017012395.1:c.1157A>G, XM_017012397.2:c.1157A>G, XM_017012397.1:c.1157A>G, XM_011516389.2:c.1157A>G, XM_011516389.1:c.1157A>G, XM_017012399.2:c.1157A>G, XM_017012399.1:c.1157A>G, XM_017012400.2:c.1157A>G, XM_017012400.1:c.1157A>G, XM_017012401.2:c.1157A>G, XM_017012401.1:c.1157A>G, XM_017012402.2:c.1157A>G, XM_017012402.1:c.1157A>G, XM_017012403.2:c.1157A>G, XM_017012403.1:c.1157A>G, XM_017012405.2:c.1157A>G, XM_017012405.1:c.1157A>G, XM_017012404.2:c.1157A>G, XM_017012404.1:c.1157A>G, XM_024446825.2:c.1157A>G, XM_024446825.1:c.1157A>G, XM_017012406.2:c.1157A>G, XM_017012406.1:c.1157A>G, XM_017012407.2:c.1157A>G, XM_017012407.1:c.1157A>G, XM_017012409.2:c.1157A>G, XM_017012409.1:c.1157A>G, XM_047420575.1:c.1157A>G, XM_047420584.1:c.1157A>G, XM_047420573.1:c.1157A>G, XM_047420574.1:c.1157A>G, XM_047420588.1:c.1157A>G, XM_047420581.1:c.1157A>G, XM_047420576.1:c.1157A>G, XM_047420591.1:c.1157A>G, XM_047420577.1:c.1157A>G, XM_047420592.1:c.1157A>G, XM_047420579.1:c.1157A>G, XM_047420580.1:c.1157A>G, XM_047420590.1:c.1157A>G, XM_047420583.1:c.1157A>G, XM_047420586.1:c.1157A>G, XM_047420585.1:c.1157A>G, XM_047420587.1:c.1157A>G, XM_047420589.1:c.1157A>G, XM_047420593.1:c.1157A>G, XM_047420594.1:c.1157A>G, XM_047420599.1:c.1157A>G, XM_047420598.1:c.1157A>G, NP_060120.2:p.Asp386Gly, NP_001159632.1:p.Asp386Gly, NP_001159633.1:p.Asp386Gly, NP_001159634.1:p.Asp386Gly, NP_001159635.1:p.Asp386Gly, XP_016867885.1:p.Asp386Gly, XP_011514683.1:p.Asp386Gly, XP_016867884.1:p.Asp386Gly, XP_016867886.1:p.Asp386Gly, XP_011514691.1:p.Asp386Gly, XP_016867888.1:p.Asp386Gly, XP_016867889.1:p.Asp386Gly, XP_016867890.1:p.Asp386Gly, XP_016867891.1:p.Asp386Gly, XP_016867892.1:p.Asp386Gly, XP_016867894.1:p.Asp386Gly, XP_016867893.1:p.Asp386Gly, XP_024302593.1:p.Asp386Gly, XP_016867895.1:p.Asp386Gly, XP_016867896.1:p.Asp386Gly, XP_016867898.1:p.Asp386Gly, XP_047276531.1:p.Asp386Gly, XP_047276540.1:p.Asp386Gly, XP_047276529.1:p.Asp386Gly, XP_047276530.1:p.Asp386Gly, XP_047276544.1:p.Asp386Gly, XP_047276537.1:p.Asp386Gly, XP_047276532.1:p.Asp386Gly, XP_047276547.1:p.Asp386Gly, XP_047276533.1:p.Asp386Gly, XP_047276548.1:p.Asp386Gly, XP_047276535.1:p.Asp386Gly, XP_047276536.1:p.Asp386Gly, XP_047276546.1:p.Asp386Gly, XP_047276539.1:p.Asp386Gly, XP_047276542.1:p.Asp386Gly, XP_047276541.1:p.Asp386Gly, XP_047276543.1:p.Asp386Gly, XP_047276545.1:p.Asp386Gly, XP_047276549.1:p.Asp386Gly, XP_047276550.1:p.Asp386Gly, XP_047276555.1:p.Asp386Gly, XP_047276554.1:p.Asp386Gly

    2.

    rs1490109177 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      7:94910379 (GRCh38)
      7:94539691 (GRCh37)
      Canonical SPDI:
      NC_000007.14:94910378:G:A,NC_000007.14:94910378:G:C
      Gene:
      PPP1R9A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0.000031/1 (ALFA)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000007.14:g.94910379G>A, NC_000007.14:g.94910379G>C, NC_000007.13:g.94539691G>A, NC_000007.13:g.94539691G>C, NG_015803.1:g.7743G>A, NG_015803.1:g.7743G>C, NM_017650.3:c.266G>A, NM_017650.3:c.266G>C, NM_017650.2:c.266G>A, NM_017650.2:c.266G>C, NM_001166160.2:c.266G>A, NM_001166160.2:c.266G>C, NM_001166160.1:c.266G>A, NM_001166160.1:c.266G>C, NM_001166161.1:c.266G>A, NM_001166161.1:c.266G>C, NM_001166162.1:c.266G>A, NM_001166162.1:c.266G>C, NM_001166163.1:c.266G>A, NM_001166163.1:c.266G>C, XM_017012396.2:c.266G>A, XM_017012396.2:c.266G>C, XM_017012396.1:c.266G>A, XM_017012396.1:c.266G>C, XM_011516381.2:c.266G>A, XM_011516381.2:c.266G>C, XM_011516381.1:c.266G>A, XM_011516381.1:c.266G>C, XM_017012395.2:c.266G>A, XM_017012395.2:c.266G>C, XM_017012395.1:c.266G>A, XM_017012395.1:c.266G>C, XM_017012397.2:c.266G>A, XM_017012397.2:c.266G>C, XM_017012397.1:c.266G>A, XM_017012397.1:c.266G>C, XM_011516389.2:c.266G>A, XM_011516389.2:c.266G>C, XM_011516389.1:c.266G>A, XM_011516389.1:c.266G>C, XM_017012399.2:c.266G>A, XM_017012399.2:c.266G>C, XM_017012399.1:c.266G>A, XM_017012399.1:c.266G>C, XM_017012400.2:c.266G>A, XM_017012400.2:c.266G>C, XM_017012400.1:c.266G>A, XM_017012400.1:c.266G>C, XM_017012401.2:c.266G>A, XM_017012401.2:c.266G>C, XM_017012401.1:c.266G>A, XM_017012401.1:c.266G>C, XM_017012402.2:c.266G>A, XM_017012402.2:c.266G>C, XM_017012402.1:c.266G>A, XM_017012402.1:c.266G>C, XM_017012403.2:c.266G>A, XM_017012403.2:c.266G>C, XM_017012403.1:c.266G>A, XM_017012403.1:c.266G>C, XM_017012405.2:c.266G>A, XM_017012405.2:c.266G>C, XM_017012405.1:c.266G>A, XM_017012405.1:c.266G>C, XM_017012404.2:c.266G>A, XM_017012404.2:c.266G>C, XM_017012404.1:c.266G>A, XM_017012404.1:c.266G>C, XM_024446825.2:c.266G>A, XM_024446825.2:c.266G>C, XM_024446825.1:c.266G>A, XM_024446825.1:c.266G>C, XM_017012406.2:c.266G>A, XM_017012406.2:c.266G>C, XM_017012406.1:c.266G>A, XM_017012406.1:c.266G>C, XM_017012407.2:c.266G>A, XM_017012407.2:c.266G>C, XM_017012407.1:c.266G>A, XM_017012407.1:c.266G>C, XM_017012409.2:c.266G>A, XM_017012409.2:c.266G>C, XM_017012409.1:c.266G>A, XM_017012409.1:c.266G>C, XM_047420575.1:c.266G>A, XM_047420575.1:c.266G>C, XM_047420584.1:c.266G>A, XM_047420584.1:c.266G>C, XM_047420573.1:c.266G>A, XM_047420573.1:c.266G>C, XM_047420574.1:c.266G>A, XM_047420574.1:c.266G>C, XM_047420588.1:c.266G>A, XM_047420588.1:c.266G>C, XM_047420581.1:c.266G>A, XM_047420581.1:c.266G>C, XM_047420576.1:c.266G>A, XM_047420576.1:c.266G>C, XM_047420591.1:c.266G>A, XM_047420591.1:c.266G>C, XM_047420577.1:c.266G>A, XM_047420577.1:c.266G>C, XM_047420592.1:c.266G>A, XM_047420592.1:c.266G>C, XM_047420579.1:c.266G>A, XM_047420579.1:c.266G>C, XM_047420580.1:c.266G>A, XM_047420580.1:c.266G>C, XM_047420590.1:c.266G>A, XM_047420590.1:c.266G>C, XM_047420583.1:c.266G>A, XM_047420583.1:c.266G>C, XM_047420586.1:c.266G>A, XM_047420586.1:c.266G>C, XM_047420585.1:c.266G>A, XM_047420585.1:c.266G>C, XM_047420587.1:c.266G>A, XM_047420587.1:c.266G>C, XM_047420589.1:c.266G>A, XM_047420589.1:c.266G>C, XM_047420593.1:c.266G>A, XM_047420593.1:c.266G>C, XM_047420594.1:c.266G>A, XM_047420594.1:c.266G>C, XM_047420599.1:c.266G>A, XM_047420599.1:c.266G>C, XM_047420598.1:c.266G>A, XM_047420598.1:c.266G>C, NP_060120.2:p.Gly89Glu, NP_060120.2:p.Gly89Ala, NP_001159632.1:p.Gly89Glu, NP_001159632.1:p.Gly89Ala, NP_001159633.1:p.Gly89Glu, NP_001159633.1:p.Gly89Ala, NP_001159634.1:p.Gly89Glu, NP_001159634.1:p.Gly89Ala, NP_001159635.1:p.Gly89Glu, NP_001159635.1:p.Gly89Ala, XP_016867885.1:p.Gly89Glu, XP_016867885.1:p.Gly89Ala, XP_011514683.1:p.Gly89Glu, XP_011514683.1:p.Gly89Ala, XP_016867884.1:p.Gly89Glu, XP_016867884.1:p.Gly89Ala, XP_016867886.1:p.Gly89Glu, XP_016867886.1:p.Gly89Ala, XP_011514691.1:p.Gly89Glu, XP_011514691.1:p.Gly89Ala, XP_016867888.1:p.Gly89Glu, XP_016867888.1:p.Gly89Ala, XP_016867889.1:p.Gly89Glu, XP_016867889.1:p.Gly89Ala, XP_016867890.1:p.Gly89Glu, XP_016867890.1:p.Gly89Ala, XP_016867891.1:p.Gly89Glu, XP_016867891.1:p.Gly89Ala, XP_016867892.1:p.Gly89Glu, XP_016867892.1:p.Gly89Ala, XP_016867894.1:p.Gly89Glu, XP_016867894.1:p.Gly89Ala, XP_016867893.1:p.Gly89Glu, XP_016867893.1:p.Gly89Ala, XP_024302593.1:p.Gly89Glu, XP_024302593.1:p.Gly89Ala, XP_016867895.1:p.Gly89Glu, XP_016867895.1:p.Gly89Ala, XP_016867896.1:p.Gly89Glu, XP_016867896.1:p.Gly89Ala, XP_016867898.1:p.Gly89Glu, XP_016867898.1:p.Gly89Ala, XP_047276531.1:p.Gly89Glu, XP_047276531.1:p.Gly89Ala, XP_047276540.1:p.Gly89Glu, XP_047276540.1:p.Gly89Ala, XP_047276529.1:p.Gly89Glu, XP_047276529.1:p.Gly89Ala, XP_047276530.1:p.Gly89Glu, XP_047276530.1:p.Gly89Ala, XP_047276544.1:p.Gly89Glu, XP_047276544.1:p.Gly89Ala, XP_047276537.1:p.Gly89Glu, XP_047276537.1:p.Gly89Ala, XP_047276532.1:p.Gly89Glu, XP_047276532.1:p.Gly89Ala, XP_047276547.1:p.Gly89Glu, XP_047276547.1:p.Gly89Ala, XP_047276533.1:p.Gly89Glu, XP_047276533.1:p.Gly89Ala, XP_047276548.1:p.Gly89Glu, XP_047276548.1:p.Gly89Ala, XP_047276535.1:p.Gly89Glu, XP_047276535.1:p.Gly89Ala, XP_047276536.1:p.Gly89Glu, XP_047276536.1:p.Gly89Ala, XP_047276546.1:p.Gly89Glu, XP_047276546.1:p.Gly89Ala, XP_047276539.1:p.Gly89Glu, XP_047276539.1:p.Gly89Ala, XP_047276542.1:p.Gly89Glu, XP_047276542.1:p.Gly89Ala, XP_047276541.1:p.Gly89Glu, XP_047276541.1:p.Gly89Ala, XP_047276543.1:p.Gly89Glu, XP_047276543.1:p.Gly89Ala, XP_047276545.1:p.Gly89Glu, XP_047276545.1:p.Gly89Ala, XP_047276549.1:p.Gly89Glu, XP_047276549.1:p.Gly89Ala, XP_047276550.1:p.Gly89Glu, XP_047276550.1:p.Gly89Ala, XP_047276555.1:p.Gly89Glu, XP_047276555.1:p.Gly89Ala, XP_047276554.1:p.Gly89Glu, XP_047276554.1:p.Gly89Ala

      3.

      rs1486511936 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:95120829 (GRCh38)
        7:94750141 (GRCh37)
        Canonical SPDI:
        NC_000007.14:95120828:G:A
        Gene:
        PPP1R9A (Varview), PPP1R9A-AS1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000007.14:g.95120829G>A, NC_000007.13:g.94750141G>A, NG_015803.1:g.218193G>A, NM_017650.3:c.1646G>A, NM_017650.2:c.1646G>A, NM_001166160.2:c.1646G>A, NM_001166160.1:c.1646G>A, NM_001166161.1:c.1646G>A, NM_001166162.1:c.1646G>A, NM_001166163.1:c.1646G>A, XM_017012396.2:c.1646G>A, XM_017012396.1:c.1646G>A, XM_011516381.2:c.1646G>A, XM_011516381.1:c.1646G>A, XM_017012395.2:c.1646G>A, XM_017012395.1:c.1646G>A, XM_017012397.2:c.1646G>A, XM_017012397.1:c.1646G>A, XM_011516389.2:c.1646G>A, XM_011516389.1:c.1646G>A, XM_017012399.2:c.1646G>A, XM_017012399.1:c.1646G>A, XM_017012400.2:c.1646G>A, XM_017012400.1:c.1646G>A, XM_017012401.2:c.1646G>A, XM_017012401.1:c.1646G>A, XM_017012402.2:c.1646G>A, XM_017012402.1:c.1646G>A, XM_017012403.2:c.1646G>A, XM_017012403.1:c.1646G>A, XM_017012405.2:c.1646G>A, XM_017012405.1:c.1646G>A, XM_017012404.2:c.1646G>A, XM_017012404.1:c.1646G>A, XM_024446825.2:c.1646G>A, XM_024446825.1:c.1646G>A, XM_017012406.2:c.1646G>A, XM_017012406.1:c.1646G>A, XM_017012407.2:c.1646G>A, XM_017012407.1:c.1646G>A, XM_017012409.2:c.1646G>A, XM_017012409.1:c.1646G>A, XM_047420575.1:c.1646G>A, XM_047420584.1:c.1646G>A, XM_047420573.1:c.1646G>A, XM_047420574.1:c.1646G>A, XM_047420588.1:c.1646G>A, XM_047420581.1:c.1646G>A, XM_047420576.1:c.1646G>A, XM_047420591.1:c.1646G>A, XM_047420577.1:c.1646G>A, XM_047420592.1:c.1646G>A, XM_047420579.1:c.1646G>A, XM_047420580.1:c.1646G>A, XM_047420590.1:c.1646G>A, XM_047420583.1:c.1646G>A, XM_047420586.1:c.1646G>A, XM_047420585.1:c.1646G>A, XM_047420587.1:c.1646G>A, XM_047420589.1:c.1646G>A, XM_047420593.1:c.1646G>A, XM_047420594.1:c.1646G>A, XM_047420595.1:c.4G>A, XM_047420599.1:c.1646G>A, XM_047420598.1:c.1646G>A, NP_060120.2:p.Gly549Asp, NP_001159632.1:p.Gly549Asp, NP_001159633.1:p.Gly549Asp, NP_001159634.1:p.Gly549Asp, NP_001159635.1:p.Gly549Asp, XP_016867885.1:p.Gly549Asp, XP_011514683.1:p.Gly549Asp, XP_016867884.1:p.Gly549Asp, XP_016867886.1:p.Gly549Asp, XP_011514691.1:p.Gly549Asp, XP_016867888.1:p.Gly549Asp, XP_016867889.1:p.Gly549Asp, XP_016867890.1:p.Gly549Asp, XP_016867891.1:p.Gly549Asp, XP_016867892.1:p.Gly549Asp, XP_016867894.1:p.Gly549Asp, XP_016867893.1:p.Gly549Asp, XP_024302593.1:p.Gly549Asp, XP_016867895.1:p.Gly549Asp, XP_016867896.1:p.Gly549Asp, XP_016867898.1:p.Gly549Asp, XP_047276531.1:p.Gly549Asp, XP_047276540.1:p.Gly549Asp, XP_047276529.1:p.Gly549Asp, XP_047276530.1:p.Gly549Asp, XP_047276544.1:p.Gly549Asp, XP_047276537.1:p.Gly549Asp, XP_047276532.1:p.Gly549Asp, XP_047276547.1:p.Gly549Asp, XP_047276533.1:p.Gly549Asp, XP_047276548.1:p.Gly549Asp, XP_047276535.1:p.Gly549Asp, XP_047276536.1:p.Gly549Asp, XP_047276546.1:p.Gly549Asp, XP_047276539.1:p.Gly549Asp, XP_047276542.1:p.Gly549Asp, XP_047276541.1:p.Gly549Asp, XP_047276543.1:p.Gly549Asp, XP_047276545.1:p.Gly549Asp, XP_047276549.1:p.Gly549Asp, XP_047276550.1:p.Gly549Asp, XP_047276551.1:p.Ala2Thr, XP_047276555.1:p.Gly549Asp, XP_047276554.1:p.Gly549Asp

        4.

        rs1486372449 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          7:95111294 (GRCh38)
          7:94740606 (GRCh37)
          Canonical SPDI:
          NC_000007.14:95111293:G:A
          Gene:
          PPP1R9A (Varview), PPP1R9A-AS1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000007.14:g.95111294G>A, NC_000007.13:g.94740606G>A, NG_015803.1:g.208658G>A, NM_017650.3:c.1431G>A, NM_017650.2:c.1431G>A, NM_001166160.2:c.1431G>A, NM_001166160.1:c.1431G>A, NM_001166161.1:c.1431G>A, NM_001166162.1:c.1431G>A, NM_001166163.1:c.1431G>A, XM_017012396.2:c.1431G>A, XM_017012396.1:c.1431G>A, XM_011516381.2:c.1431G>A, XM_011516381.1:c.1431G>A, XM_017012395.2:c.1431G>A, XM_017012395.1:c.1431G>A, XM_017012397.2:c.1431G>A, XM_017012397.1:c.1431G>A, XM_011516389.2:c.1431G>A, XM_011516389.1:c.1431G>A, XM_017012399.2:c.1431G>A, XM_017012399.1:c.1431G>A, XM_017012400.2:c.1431G>A, XM_017012400.1:c.1431G>A, XM_017012401.2:c.1431G>A, XM_017012401.1:c.1431G>A, XM_017012402.2:c.1431G>A, XM_017012402.1:c.1431G>A, XM_017012403.2:c.1431G>A, XM_017012403.1:c.1431G>A, XM_017012405.2:c.1431G>A, XM_017012405.1:c.1431G>A, XM_017012404.2:c.1431G>A, XM_017012404.1:c.1431G>A, XM_024446825.2:c.1431G>A, XM_024446825.1:c.1431G>A, XM_017012406.2:c.1431G>A, XM_017012406.1:c.1431G>A, XM_017012407.2:c.1431G>A, XM_017012407.1:c.1431G>A, XM_017012409.2:c.1431G>A, XM_017012409.1:c.1431G>A, XM_047420575.1:c.1431G>A, XM_047420584.1:c.1431G>A, XM_047420573.1:c.1431G>A, XM_047420574.1:c.1431G>A, XM_047420588.1:c.1431G>A, XM_047420581.1:c.1431G>A, XM_047420576.1:c.1431G>A, XM_047420591.1:c.1431G>A, XM_047420577.1:c.1431G>A, XM_047420592.1:c.1431G>A, XM_047420579.1:c.1431G>A, XM_047420580.1:c.1431G>A, XM_047420590.1:c.1431G>A, XM_047420583.1:c.1431G>A, XM_047420586.1:c.1431G>A, XM_047420585.1:c.1431G>A, XM_047420587.1:c.1431G>A, XM_047420589.1:c.1431G>A, XM_047420593.1:c.1431G>A, XM_047420594.1:c.1431G>A, XM_047420599.1:c.1431G>A, XM_047420598.1:c.1431G>A

          5.

          rs1484726765 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            7:94911105 (GRCh38)
            7:94540417 (GRCh37)
            Canonical SPDI:
            NC_000007.14:94911104:T:G
            Gene:
            PPP1R9A (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000007.14:g.94911105T>G, NC_000007.13:g.94540417T>G, NG_015803.1:g.8469T>G, NM_017650.3:c.992T>G, NM_017650.2:c.992T>G, NM_001166160.2:c.992T>G, NM_001166160.1:c.992T>G, NM_001166161.1:c.992T>G, NM_001166162.1:c.992T>G, NM_001166163.1:c.992T>G, XM_017012396.2:c.992T>G, XM_017012396.1:c.992T>G, XM_011516381.2:c.992T>G, XM_011516381.1:c.992T>G, XM_017012395.2:c.992T>G, XM_017012395.1:c.992T>G, XM_017012397.2:c.992T>G, XM_017012397.1:c.992T>G, XM_011516389.2:c.992T>G, XM_011516389.1:c.992T>G, XM_017012399.2:c.992T>G, XM_017012399.1:c.992T>G, XM_017012400.2:c.992T>G, XM_017012400.1:c.992T>G, XM_017012401.2:c.992T>G, XM_017012401.1:c.992T>G, XM_017012402.2:c.992T>G, XM_017012402.1:c.992T>G, XM_017012403.2:c.992T>G, XM_017012403.1:c.992T>G, XM_017012405.2:c.992T>G, XM_017012405.1:c.992T>G, XM_017012404.2:c.992T>G, XM_017012404.1:c.992T>G, XM_024446825.2:c.992T>G, XM_024446825.1:c.992T>G, XM_017012406.2:c.992T>G, XM_017012406.1:c.992T>G, XM_017012407.2:c.992T>G, XM_017012407.1:c.992T>G, XM_017012409.2:c.992T>G, XM_017012409.1:c.992T>G, XM_047420575.1:c.992T>G, XM_047420584.1:c.992T>G, XM_047420573.1:c.992T>G, XM_047420574.1:c.992T>G, XM_047420588.1:c.992T>G, XM_047420581.1:c.992T>G, XM_047420576.1:c.992T>G, XM_047420591.1:c.992T>G, XM_047420577.1:c.992T>G, XM_047420592.1:c.992T>G, XM_047420579.1:c.992T>G, XM_047420580.1:c.992T>G, XM_047420590.1:c.992T>G, XM_047420583.1:c.992T>G, XM_047420586.1:c.992T>G, XM_047420585.1:c.992T>G, XM_047420587.1:c.992T>G, XM_047420589.1:c.992T>G, XM_047420593.1:c.992T>G, XM_047420594.1:c.992T>G, XM_047420599.1:c.992T>G, XM_047420598.1:c.992T>G, NP_060120.2:p.Met331Arg, NP_001159632.1:p.Met331Arg, NP_001159633.1:p.Met331Arg, NP_001159634.1:p.Met331Arg, NP_001159635.1:p.Met331Arg, XP_016867885.1:p.Met331Arg, XP_011514683.1:p.Met331Arg, XP_016867884.1:p.Met331Arg, XP_016867886.1:p.Met331Arg, XP_011514691.1:p.Met331Arg, XP_016867888.1:p.Met331Arg, XP_016867889.1:p.Met331Arg, XP_016867890.1:p.Met331Arg, XP_016867891.1:p.Met331Arg, XP_016867892.1:p.Met331Arg, XP_016867894.1:p.Met331Arg, XP_016867893.1:p.Met331Arg, XP_024302593.1:p.Met331Arg, XP_016867895.1:p.Met331Arg, XP_016867896.1:p.Met331Arg, XP_016867898.1:p.Met331Arg, XP_047276531.1:p.Met331Arg, XP_047276540.1:p.Met331Arg, XP_047276529.1:p.Met331Arg, XP_047276530.1:p.Met331Arg, XP_047276544.1:p.Met331Arg, XP_047276537.1:p.Met331Arg, XP_047276532.1:p.Met331Arg, XP_047276547.1:p.Met331Arg, XP_047276533.1:p.Met331Arg, XP_047276548.1:p.Met331Arg, XP_047276535.1:p.Met331Arg, XP_047276536.1:p.Met331Arg, XP_047276546.1:p.Met331Arg, XP_047276539.1:p.Met331Arg, XP_047276542.1:p.Met331Arg, XP_047276541.1:p.Met331Arg, XP_047276543.1:p.Met331Arg, XP_047276545.1:p.Met331Arg, XP_047276549.1:p.Met331Arg, XP_047276550.1:p.Met331Arg, XP_047276555.1:p.Met331Arg, XP_047276554.1:p.Met331Arg

            6.

            rs1484677688 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              7:94910137 (GRCh38)
              7:94539449 (GRCh37)
              Canonical SPDI:
              NC_000007.14:94910136:T:C
              Gene:
              PPP1R9A (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000007.14:g.94910137T>C, NC_000007.13:g.94539449T>C, NG_015803.1:g.7501T>C, NM_017650.3:c.24T>C, NM_017650.2:c.24T>C, NM_001166160.2:c.24T>C, NM_001166160.1:c.24T>C, NM_001166161.1:c.24T>C, NM_001166162.1:c.24T>C, NM_001166163.1:c.24T>C, XM_017012396.2:c.24T>C, XM_017012396.1:c.24T>C, XM_011516381.2:c.24T>C, XM_011516381.1:c.24T>C, XM_017012395.2:c.24T>C, XM_017012395.1:c.24T>C, XM_017012397.2:c.24T>C, XM_017012397.1:c.24T>C, XM_011516389.2:c.24T>C, XM_011516389.1:c.24T>C, XM_017012399.2:c.24T>C, XM_017012399.1:c.24T>C, XM_017012400.2:c.24T>C, XM_017012400.1:c.24T>C, XM_017012401.2:c.24T>C, XM_017012401.1:c.24T>C, XM_017012402.2:c.24T>C, XM_017012402.1:c.24T>C, XM_017012403.2:c.24T>C, XM_017012403.1:c.24T>C, XM_017012405.2:c.24T>C, XM_017012405.1:c.24T>C, XM_017012404.2:c.24T>C, XM_017012404.1:c.24T>C, XM_024446825.2:c.24T>C, XM_024446825.1:c.24T>C, XM_017012406.2:c.24T>C, XM_017012406.1:c.24T>C, XM_017012407.2:c.24T>C, XM_017012407.1:c.24T>C, XM_017012409.2:c.24T>C, XM_017012409.1:c.24T>C, XM_047420575.1:c.24T>C, XM_047420584.1:c.24T>C, XM_047420573.1:c.24T>C, XM_047420574.1:c.24T>C, XM_047420588.1:c.24T>C, XM_047420581.1:c.24T>C, XM_047420576.1:c.24T>C, XM_047420591.1:c.24T>C, XM_047420577.1:c.24T>C, XM_047420592.1:c.24T>C, XM_047420579.1:c.24T>C, XM_047420580.1:c.24T>C, XM_047420590.1:c.24T>C, XM_047420583.1:c.24T>C, XM_047420586.1:c.24T>C, XM_047420585.1:c.24T>C, XM_047420587.1:c.24T>C, XM_047420589.1:c.24T>C, XM_047420593.1:c.24T>C, XM_047420594.1:c.24T>C, XM_047420599.1:c.24T>C, XM_047420598.1:c.24T>C

              7.

              rs1483111106 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                7:94910961 (GRCh38)
                7:94540273 (GRCh37)
                Canonical SPDI:
                NC_000007.14:94910960:C:T
                Gene:
                PPP1R9A (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000007.14:g.94910961C>T, NC_000007.13:g.94540273C>T, NG_015803.1:g.8325C>T, NM_017650.3:c.848C>T, NM_017650.2:c.848C>T, NM_001166160.2:c.848C>T, NM_001166160.1:c.848C>T, NM_001166161.1:c.848C>T, NM_001166162.1:c.848C>T, NM_001166163.1:c.848C>T, XM_017012396.2:c.848C>T, XM_017012396.1:c.848C>T, XM_011516381.2:c.848C>T, XM_011516381.1:c.848C>T, XM_017012395.2:c.848C>T, XM_017012395.1:c.848C>T, XM_017012397.2:c.848C>T, XM_017012397.1:c.848C>T, XM_011516389.2:c.848C>T, XM_011516389.1:c.848C>T, XM_017012399.2:c.848C>T, XM_017012399.1:c.848C>T, XM_017012400.2:c.848C>T, XM_017012400.1:c.848C>T, XM_017012401.2:c.848C>T, XM_017012401.1:c.848C>T, XM_017012402.2:c.848C>T, XM_017012402.1:c.848C>T, XM_017012403.2:c.848C>T, XM_017012403.1:c.848C>T, XM_017012405.2:c.848C>T, XM_017012405.1:c.848C>T, XM_017012404.2:c.848C>T, XM_017012404.1:c.848C>T, XM_024446825.2:c.848C>T, XM_024446825.1:c.848C>T, XM_017012406.2:c.848C>T, XM_017012406.1:c.848C>T, XM_017012407.2:c.848C>T, XM_017012407.1:c.848C>T, XM_017012409.2:c.848C>T, XM_017012409.1:c.848C>T, XM_047420575.1:c.848C>T, XM_047420584.1:c.848C>T, XM_047420573.1:c.848C>T, XM_047420574.1:c.848C>T, XM_047420588.1:c.848C>T, XM_047420581.1:c.848C>T, XM_047420576.1:c.848C>T, XM_047420591.1:c.848C>T, XM_047420577.1:c.848C>T, XM_047420592.1:c.848C>T, XM_047420579.1:c.848C>T, XM_047420580.1:c.848C>T, XM_047420590.1:c.848C>T, XM_047420583.1:c.848C>T, XM_047420586.1:c.848C>T, XM_047420585.1:c.848C>T, XM_047420587.1:c.848C>T, XM_047420589.1:c.848C>T, XM_047420593.1:c.848C>T, XM_047420594.1:c.848C>T, XM_047420599.1:c.848C>T, XM_047420598.1:c.848C>T, NP_060120.2:p.Ala283Val, NP_001159632.1:p.Ala283Val, NP_001159633.1:p.Ala283Val, NP_001159634.1:p.Ala283Val, NP_001159635.1:p.Ala283Val, XP_016867885.1:p.Ala283Val, XP_011514683.1:p.Ala283Val, XP_016867884.1:p.Ala283Val, XP_016867886.1:p.Ala283Val, XP_011514691.1:p.Ala283Val, XP_016867888.1:p.Ala283Val, XP_016867889.1:p.Ala283Val, XP_016867890.1:p.Ala283Val, XP_016867891.1:p.Ala283Val, XP_016867892.1:p.Ala283Val, XP_016867894.1:p.Ala283Val, XP_016867893.1:p.Ala283Val, XP_024302593.1:p.Ala283Val, XP_016867895.1:p.Ala283Val, XP_016867896.1:p.Ala283Val, XP_016867898.1:p.Ala283Val, XP_047276531.1:p.Ala283Val, XP_047276540.1:p.Ala283Val, XP_047276529.1:p.Ala283Val, XP_047276530.1:p.Ala283Val, XP_047276544.1:p.Ala283Val, XP_047276537.1:p.Ala283Val, XP_047276532.1:p.Ala283Val, XP_047276547.1:p.Ala283Val, XP_047276533.1:p.Ala283Val, XP_047276548.1:p.Ala283Val, XP_047276535.1:p.Ala283Val, XP_047276536.1:p.Ala283Val, XP_047276546.1:p.Ala283Val, XP_047276539.1:p.Ala283Val, XP_047276542.1:p.Ala283Val, XP_047276541.1:p.Ala283Val, XP_047276543.1:p.Ala283Val, XP_047276545.1:p.Ala283Val, XP_047276549.1:p.Ala283Val, XP_047276550.1:p.Ala283Val, XP_047276555.1:p.Ala283Val, XP_047276554.1:p.Ala283Val

                8.

                rs1482975443 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:95161872 (GRCh38)
                  7:94791184 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:95161871:A:G
                  Gene:
                  PPP1R9A (Varview), PPP1R9A-AS1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000007.14:g.95161872A>G, NC_000007.13:g.94791184A>G, NG_015803.1:g.259236A>G, NM_017650.3:c.1655A>G, NM_017650.2:c.1655A>G, NM_001166160.2:c.1655A>G, NM_001166160.1:c.1655A>G, NM_001166161.1:c.1655A>G, NM_001166162.1:c.1655A>G, NM_001166163.1:c.1655A>G, XM_017012396.2:c.1655A>G, XM_017012396.1:c.1655A>G, XM_011516381.2:c.1655A>G, XM_011516381.1:c.1655A>G, XM_017012395.2:c.1655A>G, XM_017012395.1:c.1655A>G, XM_017012397.2:c.1655A>G, XM_017012397.1:c.1655A>G, XM_011516389.2:c.1655A>G, XM_011516389.1:c.1655A>G, XM_017012399.2:c.1655A>G, XM_017012399.1:c.1655A>G, XM_017012400.2:c.1655A>G, XM_017012400.1:c.1655A>G, XM_017012401.2:c.1655A>G, XM_017012401.1:c.1655A>G, XM_017012402.2:c.1655A>G, XM_017012402.1:c.1655A>G, XM_017012403.2:c.1655A>G, XM_017012403.1:c.1655A>G, XM_017012405.2:c.1655A>G, XM_017012405.1:c.1655A>G, XM_017012404.2:c.1655A>G, XM_017012404.1:c.1655A>G, XM_024446825.2:c.1655A>G, XM_024446825.1:c.1655A>G, XM_017012406.2:c.1655A>G, XM_017012406.1:c.1655A>G, XM_017012407.2:c.1655A>G, XM_017012407.1:c.1655A>G, XM_017012409.2:c.1655A>G, XM_017012409.1:c.1655A>G, XM_047420575.1:c.1655A>G, XM_047420584.1:c.1655A>G, XM_047420573.1:c.1655A>G, XM_047420574.1:c.1655A>G, XM_047420588.1:c.1655A>G, XM_047420581.1:c.1655A>G, XM_047420576.1:c.1655A>G, XM_047420591.1:c.1655A>G, XM_047420577.1:c.1655A>G, XM_047420592.1:c.1655A>G, XM_047420579.1:c.1655A>G, XM_047420580.1:c.1655A>G, XM_047420590.1:c.1655A>G, XM_047420583.1:c.1655A>G, XM_047420586.1:c.1655A>G, XM_047420585.1:c.1655A>G, XM_047420587.1:c.1655A>G, XM_047420589.1:c.1655A>G, XM_047420593.1:c.1655A>G, XM_047420594.1:c.1655A>G, XM_047420595.1:c.59A>G, XM_047420599.1:c.1655A>G, XM_047420598.1:c.1655A>G, NP_060120.2:p.Gln552Arg, NP_001159632.1:p.Gln552Arg, NP_001159633.1:p.Gln552Arg, NP_001159634.1:p.Gln552Arg, NP_001159635.1:p.Gln552Arg, XP_016867885.1:p.Gln552Arg, XP_011514683.1:p.Gln552Arg, XP_016867884.1:p.Gln552Arg, XP_016867886.1:p.Gln552Arg, XP_011514691.1:p.Gln552Arg, XP_016867888.1:p.Gln552Arg, XP_016867889.1:p.Gln552Arg, XP_016867890.1:p.Gln552Arg, XP_016867891.1:p.Gln552Arg, XP_016867892.1:p.Gln552Arg, XP_016867894.1:p.Gln552Arg, XP_016867893.1:p.Gln552Arg, XP_024302593.1:p.Gln552Arg, XP_016867895.1:p.Gln552Arg, XP_016867896.1:p.Gln552Arg, XP_016867898.1:p.Gln552Arg, XP_047276531.1:p.Gln552Arg, XP_047276540.1:p.Gln552Arg, XP_047276529.1:p.Gln552Arg, XP_047276530.1:p.Gln552Arg, XP_047276544.1:p.Gln552Arg, XP_047276537.1:p.Gln552Arg, XP_047276532.1:p.Gln552Arg, XP_047276547.1:p.Gln552Arg, XP_047276533.1:p.Gln552Arg, XP_047276548.1:p.Gln552Arg, XP_047276535.1:p.Gln552Arg, XP_047276536.1:p.Gln552Arg, XP_047276546.1:p.Gln552Arg, XP_047276539.1:p.Gln552Arg, XP_047276542.1:p.Gln552Arg, XP_047276541.1:p.Gln552Arg, XP_047276543.1:p.Gln552Arg, XP_047276545.1:p.Gln552Arg, XP_047276549.1:p.Gln552Arg, XP_047276550.1:p.Gln552Arg, XP_047276551.1:p.Gln20Arg, XP_047276555.1:p.Gln552Arg, XP_047276554.1:p.Gln552Arg

                  9.

                  rs1482510597 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    7:94910165 (GRCh38)
                    7:94539477 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:94910164:C:T
                    Gene:
                    PPP1R9A (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000007.14:g.94910165C>T, NC_000007.13:g.94539477C>T, NG_015803.1:g.7529C>T, NM_017650.3:c.52C>T, NM_017650.2:c.52C>T, NM_001166160.2:c.52C>T, NM_001166160.1:c.52C>T, NM_001166161.1:c.52C>T, NM_001166162.1:c.52C>T, NM_001166163.1:c.52C>T, XM_017012396.2:c.52C>T, XM_017012396.1:c.52C>T, XM_011516381.2:c.52C>T, XM_011516381.1:c.52C>T, XM_017012395.2:c.52C>T, XM_017012395.1:c.52C>T, XM_017012397.2:c.52C>T, XM_017012397.1:c.52C>T, XM_011516389.2:c.52C>T, XM_011516389.1:c.52C>T, XM_017012399.2:c.52C>T, XM_017012399.1:c.52C>T, XM_017012400.2:c.52C>T, XM_017012400.1:c.52C>T, XM_017012401.2:c.52C>T, XM_017012401.1:c.52C>T, XM_017012402.2:c.52C>T, XM_017012402.1:c.52C>T, XM_017012403.2:c.52C>T, XM_017012403.1:c.52C>T, XM_017012405.2:c.52C>T, XM_017012405.1:c.52C>T, XM_017012404.2:c.52C>T, XM_017012404.1:c.52C>T, XM_024446825.2:c.52C>T, XM_024446825.1:c.52C>T, XM_017012406.2:c.52C>T, XM_017012406.1:c.52C>T, XM_017012407.2:c.52C>T, XM_017012407.1:c.52C>T, XM_017012409.2:c.52C>T, XM_017012409.1:c.52C>T, XM_047420575.1:c.52C>T, XM_047420584.1:c.52C>T, XM_047420573.1:c.52C>T, XM_047420574.1:c.52C>T, XM_047420588.1:c.52C>T, XM_047420581.1:c.52C>T, XM_047420576.1:c.52C>T, XM_047420591.1:c.52C>T, XM_047420577.1:c.52C>T, XM_047420592.1:c.52C>T, XM_047420579.1:c.52C>T, XM_047420580.1:c.52C>T, XM_047420590.1:c.52C>T, XM_047420583.1:c.52C>T, XM_047420586.1:c.52C>T, XM_047420585.1:c.52C>T, XM_047420587.1:c.52C>T, XM_047420589.1:c.52C>T, XM_047420593.1:c.52C>T, XM_047420594.1:c.52C>T, XM_047420599.1:c.52C>T, XM_047420598.1:c.52C>T, NP_060120.2:p.Pro18Ser, NP_001159632.1:p.Pro18Ser, NP_001159633.1:p.Pro18Ser, NP_001159634.1:p.Pro18Ser, NP_001159635.1:p.Pro18Ser, XP_016867885.1:p.Pro18Ser, XP_011514683.1:p.Pro18Ser, XP_016867884.1:p.Pro18Ser, XP_016867886.1:p.Pro18Ser, XP_011514691.1:p.Pro18Ser, XP_016867888.1:p.Pro18Ser, XP_016867889.1:p.Pro18Ser, XP_016867890.1:p.Pro18Ser, XP_016867891.1:p.Pro18Ser, XP_016867892.1:p.Pro18Ser, XP_016867894.1:p.Pro18Ser, XP_016867893.1:p.Pro18Ser, XP_024302593.1:p.Pro18Ser, XP_016867895.1:p.Pro18Ser, XP_016867896.1:p.Pro18Ser, XP_016867898.1:p.Pro18Ser, XP_047276531.1:p.Pro18Ser, XP_047276540.1:p.Pro18Ser, XP_047276529.1:p.Pro18Ser, XP_047276530.1:p.Pro18Ser, XP_047276544.1:p.Pro18Ser, XP_047276537.1:p.Pro18Ser, XP_047276532.1:p.Pro18Ser, XP_047276547.1:p.Pro18Ser, XP_047276533.1:p.Pro18Ser, XP_047276548.1:p.Pro18Ser, XP_047276535.1:p.Pro18Ser, XP_047276536.1:p.Pro18Ser, XP_047276546.1:p.Pro18Ser, XP_047276539.1:p.Pro18Ser, XP_047276542.1:p.Pro18Ser, XP_047276541.1:p.Pro18Ser, XP_047276543.1:p.Pro18Ser, XP_047276545.1:p.Pro18Ser, XP_047276549.1:p.Pro18Ser, XP_047276550.1:p.Pro18Ser, XP_047276555.1:p.Pro18Ser, XP_047276554.1:p.Pro18Ser

                    10.

                    rs1481884373 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      7:94910885 (GRCh38)
                      7:94540197 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:94910884:T:A
                      Gene:
                      PPP1R9A (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000021/3 (GnomAD)
                      A=0.000026/7 (TOPMED)
                      HGVS:
                      NC_000007.14:g.94910885T>A, NC_000007.13:g.94540197T>A, NG_015803.1:g.8249T>A, NM_017650.3:c.772T>A, NM_017650.2:c.772T>A, NM_001166160.2:c.772T>A, NM_001166160.1:c.772T>A, NM_001166161.1:c.772T>A, NM_001166162.1:c.772T>A, NM_001166163.1:c.772T>A, XM_017012396.2:c.772T>A, XM_017012396.1:c.772T>A, XM_011516381.2:c.772T>A, XM_011516381.1:c.772T>A, XM_017012395.2:c.772T>A, XM_017012395.1:c.772T>A, XM_017012397.2:c.772T>A, XM_017012397.1:c.772T>A, XM_011516389.2:c.772T>A, XM_011516389.1:c.772T>A, XM_017012399.2:c.772T>A, XM_017012399.1:c.772T>A, XM_017012400.2:c.772T>A, XM_017012400.1:c.772T>A, XM_017012401.2:c.772T>A, XM_017012401.1:c.772T>A, XM_017012402.2:c.772T>A, XM_017012402.1:c.772T>A, XM_017012403.2:c.772T>A, XM_017012403.1:c.772T>A, XM_017012405.2:c.772T>A, XM_017012405.1:c.772T>A, XM_017012404.2:c.772T>A, XM_017012404.1:c.772T>A, XM_024446825.2:c.772T>A, XM_024446825.1:c.772T>A, XM_017012406.2:c.772T>A, XM_017012406.1:c.772T>A, XM_017012407.2:c.772T>A, XM_017012407.1:c.772T>A, XM_017012409.2:c.772T>A, XM_017012409.1:c.772T>A, XM_047420575.1:c.772T>A, XM_047420584.1:c.772T>A, XM_047420573.1:c.772T>A, XM_047420574.1:c.772T>A, XM_047420588.1:c.772T>A, XM_047420581.1:c.772T>A, XM_047420576.1:c.772T>A, XM_047420591.1:c.772T>A, XM_047420577.1:c.772T>A, XM_047420592.1:c.772T>A, XM_047420579.1:c.772T>A, XM_047420580.1:c.772T>A, XM_047420590.1:c.772T>A, XM_047420583.1:c.772T>A, XM_047420586.1:c.772T>A, XM_047420585.1:c.772T>A, XM_047420587.1:c.772T>A, XM_047420589.1:c.772T>A, XM_047420593.1:c.772T>A, XM_047420594.1:c.772T>A, XM_047420599.1:c.772T>A, XM_047420598.1:c.772T>A, NP_060120.2:p.Trp258Arg, NP_001159632.1:p.Trp258Arg, NP_001159633.1:p.Trp258Arg, NP_001159634.1:p.Trp258Arg, NP_001159635.1:p.Trp258Arg, XP_016867885.1:p.Trp258Arg, XP_011514683.1:p.Trp258Arg, XP_016867884.1:p.Trp258Arg, XP_016867886.1:p.Trp258Arg, XP_011514691.1:p.Trp258Arg, XP_016867888.1:p.Trp258Arg, XP_016867889.1:p.Trp258Arg, XP_016867890.1:p.Trp258Arg, XP_016867891.1:p.Trp258Arg, XP_016867892.1:p.Trp258Arg, XP_016867894.1:p.Trp258Arg, XP_016867893.1:p.Trp258Arg, XP_024302593.1:p.Trp258Arg, XP_016867895.1:p.Trp258Arg, XP_016867896.1:p.Trp258Arg, XP_016867898.1:p.Trp258Arg, XP_047276531.1:p.Trp258Arg, XP_047276540.1:p.Trp258Arg, XP_047276529.1:p.Trp258Arg, XP_047276530.1:p.Trp258Arg, XP_047276544.1:p.Trp258Arg, XP_047276537.1:p.Trp258Arg, XP_047276532.1:p.Trp258Arg, XP_047276547.1:p.Trp258Arg, XP_047276533.1:p.Trp258Arg, XP_047276548.1:p.Trp258Arg, XP_047276535.1:p.Trp258Arg, XP_047276536.1:p.Trp258Arg, XP_047276546.1:p.Trp258Arg, XP_047276539.1:p.Trp258Arg, XP_047276542.1:p.Trp258Arg, XP_047276541.1:p.Trp258Arg, XP_047276543.1:p.Trp258Arg, XP_047276545.1:p.Trp258Arg, XP_047276549.1:p.Trp258Arg, XP_047276550.1:p.Trp258Arg, XP_047276555.1:p.Trp258Arg, XP_047276554.1:p.Trp258Arg

                      11.

                      rs1479660976 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        7:94910375 (GRCh38)
                        7:94539687 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:94910374:A:T
                        Gene:
                        PPP1R9A (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.94910375A>T, NC_000007.13:g.94539687A>T, NG_015803.1:g.7739A>T, NM_017650.3:c.262A>T, NM_017650.2:c.262A>T, NM_001166160.2:c.262A>T, NM_001166160.1:c.262A>T, NM_001166161.1:c.262A>T, NM_001166162.1:c.262A>T, NM_001166163.1:c.262A>T, XM_017012396.2:c.262A>T, XM_017012396.1:c.262A>T, XM_011516381.2:c.262A>T, XM_011516381.1:c.262A>T, XM_017012395.2:c.262A>T, XM_017012395.1:c.262A>T, XM_017012397.2:c.262A>T, XM_017012397.1:c.262A>T, XM_011516389.2:c.262A>T, XM_011516389.1:c.262A>T, XM_017012399.2:c.262A>T, XM_017012399.1:c.262A>T, XM_017012400.2:c.262A>T, XM_017012400.1:c.262A>T, XM_017012401.2:c.262A>T, XM_017012401.1:c.262A>T, XM_017012402.2:c.262A>T, XM_017012402.1:c.262A>T, XM_017012403.2:c.262A>T, XM_017012403.1:c.262A>T, XM_017012405.2:c.262A>T, XM_017012405.1:c.262A>T, XM_017012404.2:c.262A>T, XM_017012404.1:c.262A>T, XM_024446825.2:c.262A>T, XM_024446825.1:c.262A>T, XM_017012406.2:c.262A>T, XM_017012406.1:c.262A>T, XM_017012407.2:c.262A>T, XM_017012407.1:c.262A>T, XM_017012409.2:c.262A>T, XM_017012409.1:c.262A>T, XM_047420575.1:c.262A>T, XM_047420584.1:c.262A>T, XM_047420573.1:c.262A>T, XM_047420574.1:c.262A>T, XM_047420588.1:c.262A>T, XM_047420581.1:c.262A>T, XM_047420576.1:c.262A>T, XM_047420591.1:c.262A>T, XM_047420577.1:c.262A>T, XM_047420592.1:c.262A>T, XM_047420579.1:c.262A>T, XM_047420580.1:c.262A>T, XM_047420590.1:c.262A>T, XM_047420583.1:c.262A>T, XM_047420586.1:c.262A>T, XM_047420585.1:c.262A>T, XM_047420587.1:c.262A>T, XM_047420589.1:c.262A>T, XM_047420593.1:c.262A>T, XM_047420594.1:c.262A>T, XM_047420599.1:c.262A>T, XM_047420598.1:c.262A>T, NP_060120.2:p.Arg88Trp, NP_001159632.1:p.Arg88Trp, NP_001159633.1:p.Arg88Trp, NP_001159634.1:p.Arg88Trp, NP_001159635.1:p.Arg88Trp, XP_016867885.1:p.Arg88Trp, XP_011514683.1:p.Arg88Trp, XP_016867884.1:p.Arg88Trp, XP_016867886.1:p.Arg88Trp, XP_011514691.1:p.Arg88Trp, XP_016867888.1:p.Arg88Trp, XP_016867889.1:p.Arg88Trp, XP_016867890.1:p.Arg88Trp, XP_016867891.1:p.Arg88Trp, XP_016867892.1:p.Arg88Trp, XP_016867894.1:p.Arg88Trp, XP_016867893.1:p.Arg88Trp, XP_024302593.1:p.Arg88Trp, XP_016867895.1:p.Arg88Trp, XP_016867896.1:p.Arg88Trp, XP_016867898.1:p.Arg88Trp, XP_047276531.1:p.Arg88Trp, XP_047276540.1:p.Arg88Trp, XP_047276529.1:p.Arg88Trp, XP_047276530.1:p.Arg88Trp, XP_047276544.1:p.Arg88Trp, XP_047276537.1:p.Arg88Trp, XP_047276532.1:p.Arg88Trp, XP_047276547.1:p.Arg88Trp, XP_047276533.1:p.Arg88Trp, XP_047276548.1:p.Arg88Trp, XP_047276535.1:p.Arg88Trp, XP_047276536.1:p.Arg88Trp, XP_047276546.1:p.Arg88Trp, XP_047276539.1:p.Arg88Trp, XP_047276542.1:p.Arg88Trp, XP_047276541.1:p.Arg88Trp, XP_047276543.1:p.Arg88Trp, XP_047276545.1:p.Arg88Trp, XP_047276549.1:p.Arg88Trp, XP_047276550.1:p.Arg88Trp, XP_047276555.1:p.Arg88Trp, XP_047276554.1:p.Arg88Trp

                        12.

                        rs1478515426 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          7:94910526 (GRCh38)
                          7:94539838 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:94910525:A:G
                          Gene:
                          PPP1R9A (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.94910526A>G, NC_000007.13:g.94539838A>G, NG_015803.1:g.7890A>G, NM_017650.3:c.413A>G, NM_017650.2:c.413A>G, NM_001166160.2:c.413A>G, NM_001166160.1:c.413A>G, NM_001166161.1:c.413A>G, NM_001166162.1:c.413A>G, NM_001166163.1:c.413A>G, XM_017012396.2:c.413A>G, XM_017012396.1:c.413A>G, XM_011516381.2:c.413A>G, XM_011516381.1:c.413A>G, XM_017012395.2:c.413A>G, XM_017012395.1:c.413A>G, XM_017012397.2:c.413A>G, XM_017012397.1:c.413A>G, XM_011516389.2:c.413A>G, XM_011516389.1:c.413A>G, XM_017012399.2:c.413A>G, XM_017012399.1:c.413A>G, XM_017012400.2:c.413A>G, XM_017012400.1:c.413A>G, XM_017012401.2:c.413A>G, XM_017012401.1:c.413A>G, XM_017012402.2:c.413A>G, XM_017012402.1:c.413A>G, XM_017012403.2:c.413A>G, XM_017012403.1:c.413A>G, XM_017012405.2:c.413A>G, XM_017012405.1:c.413A>G, XM_017012404.2:c.413A>G, XM_017012404.1:c.413A>G, XM_024446825.2:c.413A>G, XM_024446825.1:c.413A>G, XM_017012406.2:c.413A>G, XM_017012406.1:c.413A>G, XM_017012407.2:c.413A>G, XM_017012407.1:c.413A>G, XM_017012409.2:c.413A>G, XM_017012409.1:c.413A>G, XM_047420575.1:c.413A>G, XM_047420584.1:c.413A>G, XM_047420573.1:c.413A>G, XM_047420574.1:c.413A>G, XM_047420588.1:c.413A>G, XM_047420581.1:c.413A>G, XM_047420576.1:c.413A>G, XM_047420591.1:c.413A>G, XM_047420577.1:c.413A>G, XM_047420592.1:c.413A>G, XM_047420579.1:c.413A>G, XM_047420580.1:c.413A>G, XM_047420590.1:c.413A>G, XM_047420583.1:c.413A>G, XM_047420586.1:c.413A>G, XM_047420585.1:c.413A>G, XM_047420587.1:c.413A>G, XM_047420589.1:c.413A>G, XM_047420593.1:c.413A>G, XM_047420594.1:c.413A>G, XM_047420599.1:c.413A>G, XM_047420598.1:c.413A>G, NP_060120.2:p.Lys138Arg, NP_001159632.1:p.Lys138Arg, NP_001159633.1:p.Lys138Arg, NP_001159634.1:p.Lys138Arg, NP_001159635.1:p.Lys138Arg, XP_016867885.1:p.Lys138Arg, XP_011514683.1:p.Lys138Arg, XP_016867884.1:p.Lys138Arg, XP_016867886.1:p.Lys138Arg, XP_011514691.1:p.Lys138Arg, XP_016867888.1:p.Lys138Arg, XP_016867889.1:p.Lys138Arg, XP_016867890.1:p.Lys138Arg, XP_016867891.1:p.Lys138Arg, XP_016867892.1:p.Lys138Arg, XP_016867894.1:p.Lys138Arg, XP_016867893.1:p.Lys138Arg, XP_024302593.1:p.Lys138Arg, XP_016867895.1:p.Lys138Arg, XP_016867896.1:p.Lys138Arg, XP_016867898.1:p.Lys138Arg, XP_047276531.1:p.Lys138Arg, XP_047276540.1:p.Lys138Arg, XP_047276529.1:p.Lys138Arg, XP_047276530.1:p.Lys138Arg, XP_047276544.1:p.Lys138Arg, XP_047276537.1:p.Lys138Arg, XP_047276532.1:p.Lys138Arg, XP_047276547.1:p.Lys138Arg, XP_047276533.1:p.Lys138Arg, XP_047276548.1:p.Lys138Arg, XP_047276535.1:p.Lys138Arg, XP_047276536.1:p.Lys138Arg, XP_047276546.1:p.Lys138Arg, XP_047276539.1:p.Lys138Arg, XP_047276542.1:p.Lys138Arg, XP_047276541.1:p.Lys138Arg, XP_047276543.1:p.Lys138Arg, XP_047276545.1:p.Lys138Arg, XP_047276549.1:p.Lys138Arg, XP_047276550.1:p.Lys138Arg, XP_047276555.1:p.Lys138Arg, XP_047276554.1:p.Lys138Arg

                          13.

                          rs1477355429 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            7:95225967 (GRCh38)
                            7:94855279 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:95225966:G:C
                            Gene:
                            PPP1R9A (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.95225967G>C, NC_000007.13:g.94855279G>C, NG_015803.1:g.323331G>C, NM_017650.3:c.1897G>C, NM_017650.2:c.1897G>C, NM_001166160.2:c.1963G>C, NM_001166160.1:c.1963G>C, NM_001166161.1:c.1897G>C, NM_001166162.1:c.1897G>C, NM_001166163.1:c.1897G>C, XM_017012396.2:c.1897G>C, XM_017012396.1:c.1897G>C, XM_011516381.2:c.2026G>C, XM_011516381.1:c.2026G>C, XM_017012395.2:c.2026G>C, XM_017012395.1:c.2026G>C, XM_017012397.2:c.2026G>C, XM_017012397.1:c.2026G>C, XM_011516389.2:c.1897G>C, XM_011516389.1:c.1897G>C, XM_017012399.2:c.1897G>C, XM_017012399.1:c.1897G>C, XM_017012400.2:c.1897G>C, XM_017012400.1:c.1897G>C, XM_017012401.2:c.1963G>C, XM_017012401.1:c.1963G>C, XM_017012402.2:c.1897G>C, XM_017012402.1:c.1897G>C, XM_017012403.2:c.1897G>C, XM_017012403.1:c.1897G>C, XM_017012405.2:c.1897G>C, XM_017012405.1:c.1897G>C, XM_017012404.2:c.2026G>C, XM_017012404.1:c.2026G>C, XM_024446825.2:c.2026G>C, XM_024446825.1:c.2026G>C, XM_017012406.2:c.1897G>C, XM_017012406.1:c.1897G>C, XM_017012407.2:c.1897G>C, XM_017012407.1:c.1897G>C, XM_017012409.2:c.2026G>C, XM_017012409.1:c.2026G>C, XM_047420575.1:c.2026G>C, XM_047420584.1:c.1963G>C, XM_047420573.1:c.2026G>C, XM_047420574.1:c.2026G>C, XM_047420588.1:c.1897G>C, XM_047420581.1:c.1897G>C, XM_047420576.1:c.2026G>C, XM_047420591.1:c.1897G>C, XM_047420577.1:c.1963G>C, XM_047420592.1:c.1897G>C, XM_047420579.1:c.1897G>C, XM_047420580.1:c.1897G>C, XM_047420590.1:c.1897G>C, XM_047420583.1:c.2026G>C, XM_047420586.1:c.1897G>C, XM_047420585.1:c.1963G>C, XM_047420587.1:c.1897G>C, XM_047420589.1:c.1897G>C, XM_047420593.1:c.1897G>C, XM_047420594.1:c.1897G>C, XM_047420595.1:c.430G>C, XM_047420596.1:c.-88G>C, XM_047420600.1:c.-88G>C, XM_047420599.1:c.1897G>C, XM_047420598.1:c.1897G>C, NP_060120.2:p.Glu633Gln, NP_001159632.1:p.Glu655Gln, NP_001159633.1:p.Glu633Gln, NP_001159634.1:p.Glu633Gln, NP_001159635.1:p.Glu633Gln, XP_016867885.1:p.Glu633Gln, XP_011514683.1:p.Glu676Gln, XP_016867884.1:p.Glu676Gln, XP_016867886.1:p.Glu676Gln, XP_011514691.1:p.Glu633Gln, XP_016867888.1:p.Glu633Gln, XP_016867889.1:p.Glu633Gln, XP_016867890.1:p.Glu655Gln, XP_016867891.1:p.Glu633Gln, XP_016867892.1:p.Glu633Gln, XP_016867894.1:p.Glu633Gln, XP_016867893.1:p.Glu676Gln, XP_024302593.1:p.Glu676Gln, XP_016867895.1:p.Glu633Gln, XP_016867896.1:p.Glu633Gln, XP_016867898.1:p.Glu676Gln, XP_047276531.1:p.Glu676Gln, XP_047276540.1:p.Glu655Gln, XP_047276529.1:p.Glu676Gln, XP_047276530.1:p.Glu676Gln, XP_047276544.1:p.Glu633Gln, XP_047276537.1:p.Glu633Gln, XP_047276532.1:p.Glu676Gln, XP_047276547.1:p.Glu633Gln, XP_047276533.1:p.Glu655Gln, XP_047276548.1:p.Glu633Gln, XP_047276535.1:p.Glu633Gln, XP_047276536.1:p.Glu633Gln, XP_047276546.1:p.Glu633Gln, XP_047276539.1:p.Glu676Gln, XP_047276542.1:p.Glu633Gln, XP_047276541.1:p.Glu655Gln, XP_047276543.1:p.Glu633Gln, XP_047276545.1:p.Glu633Gln, XP_047276549.1:p.Glu633Gln, XP_047276550.1:p.Glu633Gln, XP_047276551.1:p.Glu144Gln, XP_047276555.1:p.Glu633Gln, XP_047276554.1:p.Glu633Gln

                            14.

                            rs1474974104 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:94910629 (GRCh38)
                              7:94539941 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:94910628:G:A
                              Gene:
                              PPP1R9A (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000007.14:g.94910629G>A, NC_000007.13:g.94539941G>A, NG_015803.1:g.7993G>A, NM_017650.3:c.516G>A, NM_017650.2:c.516G>A, NM_001166160.2:c.516G>A, NM_001166160.1:c.516G>A, NM_001166161.1:c.516G>A, NM_001166162.1:c.516G>A, NM_001166163.1:c.516G>A, XM_017012396.2:c.516G>A, XM_017012396.1:c.516G>A, XM_011516381.2:c.516G>A, XM_011516381.1:c.516G>A, XM_017012395.2:c.516G>A, XM_017012395.1:c.516G>A, XM_017012397.2:c.516G>A, XM_017012397.1:c.516G>A, XM_011516389.2:c.516G>A, XM_011516389.1:c.516G>A, XM_017012399.2:c.516G>A, XM_017012399.1:c.516G>A, XM_017012400.2:c.516G>A, XM_017012400.1:c.516G>A, XM_017012401.2:c.516G>A, XM_017012401.1:c.516G>A, XM_017012402.2:c.516G>A, XM_017012402.1:c.516G>A, XM_017012403.2:c.516G>A, XM_017012403.1:c.516G>A, XM_017012405.2:c.516G>A, XM_017012405.1:c.516G>A, XM_017012404.2:c.516G>A, XM_017012404.1:c.516G>A, XM_024446825.2:c.516G>A, XM_024446825.1:c.516G>A, XM_017012406.2:c.516G>A, XM_017012406.1:c.516G>A, XM_017012407.2:c.516G>A, XM_017012407.1:c.516G>A, XM_017012409.2:c.516G>A, XM_017012409.1:c.516G>A, XM_047420575.1:c.516G>A, XM_047420584.1:c.516G>A, XM_047420573.1:c.516G>A, XM_047420574.1:c.516G>A, XM_047420588.1:c.516G>A, XM_047420581.1:c.516G>A, XM_047420576.1:c.516G>A, XM_047420591.1:c.516G>A, XM_047420577.1:c.516G>A, XM_047420592.1:c.516G>A, XM_047420579.1:c.516G>A, XM_047420580.1:c.516G>A, XM_047420590.1:c.516G>A, XM_047420583.1:c.516G>A, XM_047420586.1:c.516G>A, XM_047420585.1:c.516G>A, XM_047420587.1:c.516G>A, XM_047420589.1:c.516G>A, XM_047420593.1:c.516G>A, XM_047420594.1:c.516G>A, XM_047420599.1:c.516G>A, XM_047420598.1:c.516G>A

                              15.

                              rs1473900682 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                7:95198465 (GRCh38)
                                7:94827777 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:95198464:A:G
                                Gene:
                                PPP1R9A (Varview), PPP1R9A-AS1 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                G=0.000008/2 (TOPMED)
                                HGVS:
                                NC_000007.14:g.95198465A>G, NC_000007.13:g.94827777A>G, NG_015803.1:g.295829A>G, NM_017650.3:c.1871A>G, NM_017650.2:c.1871A>G, NM_001166160.2:c.1871A>G, NM_001166160.1:c.1871A>G, NM_001166161.1:c.1871A>G, NM_001166162.1:c.1871A>G, NM_001166163.1:c.1871A>G, XM_017012396.2:c.1871A>G, XM_017012396.1:c.1871A>G, XM_011516381.2:c.1871A>G, XM_011516381.1:c.1871A>G, XM_017012395.2:c.1871A>G, XM_017012395.1:c.1871A>G, XM_017012397.2:c.1871A>G, XM_017012397.1:c.1871A>G, XM_011516389.2:c.1871A>G, XM_011516389.1:c.1871A>G, XM_017012399.2:c.1871A>G, XM_017012399.1:c.1871A>G, XM_017012400.2:c.1871A>G, XM_017012400.1:c.1871A>G, XM_017012401.2:c.1871A>G, XM_017012401.1:c.1871A>G, XM_017012402.2:c.1871A>G, XM_017012402.1:c.1871A>G, XM_017012403.2:c.1871A>G, XM_017012403.1:c.1871A>G, XM_017012405.2:c.1871A>G, XM_017012405.1:c.1871A>G, XM_017012404.2:c.1871A>G, XM_017012404.1:c.1871A>G, XM_024446825.2:c.1871A>G, XM_024446825.1:c.1871A>G, XM_017012406.2:c.1871A>G, XM_017012406.1:c.1871A>G, XM_017012407.2:c.1871A>G, XM_017012407.1:c.1871A>G, XM_017012409.2:c.1871A>G, XM_017012409.1:c.1871A>G, XM_047420575.1:c.1871A>G, XM_047420584.1:c.1871A>G, XM_047420573.1:c.1871A>G, XM_047420574.1:c.1871A>G, XM_047420588.1:c.1871A>G, XM_047420581.1:c.1871A>G, XM_047420576.1:c.1871A>G, XM_047420591.1:c.1871A>G, XM_047420577.1:c.1871A>G, XM_047420592.1:c.1871A>G, XM_047420579.1:c.1871A>G, XM_047420580.1:c.1871A>G, XM_047420590.1:c.1871A>G, XM_047420583.1:c.1871A>G, XM_047420586.1:c.1871A>G, XM_047420585.1:c.1871A>G, XM_047420587.1:c.1871A>G, XM_047420589.1:c.1871A>G, XM_047420593.1:c.1871A>G, XM_047420594.1:c.1871A>G, XM_047420595.1:c.275A>G, XM_047420599.1:c.1871A>G, XM_047420598.1:c.1871A>G, NP_060120.2:p.Tyr624Cys, NP_001159632.1:p.Tyr624Cys, NP_001159633.1:p.Tyr624Cys, NP_001159634.1:p.Tyr624Cys, NP_001159635.1:p.Tyr624Cys, XP_016867885.1:p.Tyr624Cys, XP_011514683.1:p.Tyr624Cys, XP_016867884.1:p.Tyr624Cys, XP_016867886.1:p.Tyr624Cys, XP_011514691.1:p.Tyr624Cys, XP_016867888.1:p.Tyr624Cys, XP_016867889.1:p.Tyr624Cys, XP_016867890.1:p.Tyr624Cys, XP_016867891.1:p.Tyr624Cys, XP_016867892.1:p.Tyr624Cys, XP_016867894.1:p.Tyr624Cys, XP_016867893.1:p.Tyr624Cys, XP_024302593.1:p.Tyr624Cys, XP_016867895.1:p.Tyr624Cys, XP_016867896.1:p.Tyr624Cys, XP_016867898.1:p.Tyr624Cys, XP_047276531.1:p.Tyr624Cys, XP_047276540.1:p.Tyr624Cys, XP_047276529.1:p.Tyr624Cys, XP_047276530.1:p.Tyr624Cys, XP_047276544.1:p.Tyr624Cys, XP_047276537.1:p.Tyr624Cys, XP_047276532.1:p.Tyr624Cys, XP_047276547.1:p.Tyr624Cys, XP_047276533.1:p.Tyr624Cys, XP_047276548.1:p.Tyr624Cys, XP_047276535.1:p.Tyr624Cys, XP_047276536.1:p.Tyr624Cys, XP_047276546.1:p.Tyr624Cys, XP_047276539.1:p.Tyr624Cys, XP_047276542.1:p.Tyr624Cys, XP_047276541.1:p.Tyr624Cys, XP_047276543.1:p.Tyr624Cys, XP_047276545.1:p.Tyr624Cys, XP_047276549.1:p.Tyr624Cys, XP_047276550.1:p.Tyr624Cys, XP_047276551.1:p.Tyr92Cys, XP_047276555.1:p.Tyr624Cys, XP_047276554.1:p.Tyr624Cys

                                16.

                                rs1473524053 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  7:94910767 (GRCh38)
                                  7:94540079 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:94910766:C:G
                                  Gene:
                                  PPP1R9A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,genic_upstream_transcript_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_000007.14:g.94910767C>G, NC_000007.13:g.94540079C>G, NG_015803.1:g.8131C>G, NM_017650.3:c.654C>G, NM_017650.2:c.654C>G, NM_001166160.2:c.654C>G, NM_001166160.1:c.654C>G, NM_001166161.1:c.654C>G, NM_001166162.1:c.654C>G, NM_001166163.1:c.654C>G, XM_017012396.2:c.654C>G, XM_017012396.1:c.654C>G, XM_011516381.2:c.654C>G, XM_011516381.1:c.654C>G, XM_017012395.2:c.654C>G, XM_017012395.1:c.654C>G, XM_017012397.2:c.654C>G, XM_017012397.1:c.654C>G, XM_011516389.2:c.654C>G, XM_011516389.1:c.654C>G, XM_017012399.2:c.654C>G, XM_017012399.1:c.654C>G, XM_017012400.2:c.654C>G, XM_017012400.1:c.654C>G, XM_017012401.2:c.654C>G, XM_017012401.1:c.654C>G, XM_017012402.2:c.654C>G, XM_017012402.1:c.654C>G, XM_017012403.2:c.654C>G, XM_017012403.1:c.654C>G, XM_017012405.2:c.654C>G, XM_017012405.1:c.654C>G, XM_017012404.2:c.654C>G, XM_017012404.1:c.654C>G, XM_024446825.2:c.654C>G, XM_024446825.1:c.654C>G, XM_017012406.2:c.654C>G, XM_017012406.1:c.654C>G, XM_017012407.2:c.654C>G, XM_017012407.1:c.654C>G, XM_017012409.2:c.654C>G, XM_017012409.1:c.654C>G, XM_047420575.1:c.654C>G, XM_047420584.1:c.654C>G, XM_047420573.1:c.654C>G, XM_047420574.1:c.654C>G, XM_047420588.1:c.654C>G, XM_047420581.1:c.654C>G, XM_047420576.1:c.654C>G, XM_047420591.1:c.654C>G, XM_047420577.1:c.654C>G, XM_047420592.1:c.654C>G, XM_047420579.1:c.654C>G, XM_047420580.1:c.654C>G, XM_047420590.1:c.654C>G, XM_047420583.1:c.654C>G, XM_047420586.1:c.654C>G, XM_047420585.1:c.654C>G, XM_047420587.1:c.654C>G, XM_047420589.1:c.654C>G, XM_047420593.1:c.654C>G, XM_047420594.1:c.654C>G, XM_047420599.1:c.654C>G, XM_047420598.1:c.654C>G, NP_060120.2:p.Ile218Met, NP_001159632.1:p.Ile218Met, NP_001159633.1:p.Ile218Met, NP_001159634.1:p.Ile218Met, NP_001159635.1:p.Ile218Met, XP_016867885.1:p.Ile218Met, XP_011514683.1:p.Ile218Met, XP_016867884.1:p.Ile218Met, XP_016867886.1:p.Ile218Met, XP_011514691.1:p.Ile218Met, XP_016867888.1:p.Ile218Met, XP_016867889.1:p.Ile218Met, XP_016867890.1:p.Ile218Met, XP_016867891.1:p.Ile218Met, XP_016867892.1:p.Ile218Met, XP_016867894.1:p.Ile218Met, XP_016867893.1:p.Ile218Met, XP_024302593.1:p.Ile218Met, XP_016867895.1:p.Ile218Met, XP_016867896.1:p.Ile218Met, XP_016867898.1:p.Ile218Met, XP_047276531.1:p.Ile218Met, XP_047276540.1:p.Ile218Met, XP_047276529.1:p.Ile218Met, XP_047276530.1:p.Ile218Met, XP_047276544.1:p.Ile218Met, XP_047276537.1:p.Ile218Met, XP_047276532.1:p.Ile218Met, XP_047276547.1:p.Ile218Met, XP_047276533.1:p.Ile218Met, XP_047276548.1:p.Ile218Met, XP_047276535.1:p.Ile218Met, XP_047276536.1:p.Ile218Met, XP_047276546.1:p.Ile218Met, XP_047276539.1:p.Ile218Met, XP_047276542.1:p.Ile218Met, XP_047276541.1:p.Ile218Met, XP_047276543.1:p.Ile218Met, XP_047276545.1:p.Ile218Met, XP_047276549.1:p.Ile218Met, XP_047276550.1:p.Ile218Met, XP_047276555.1:p.Ile218Met, XP_047276554.1:p.Ile218Met

                                  17.

                                  rs1473499871 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    7:94910797 (GRCh38)
                                    7:94540109 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:94910796:C:T
                                    Gene:
                                    PPP1R9A (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000012/3 (GnomAD_exomes)
                                    HGVS:
                                    NC_000007.14:g.94910797C>T, NC_000007.13:g.94540109C>T, NG_015803.1:g.8161C>T, NM_017650.3:c.684C>T, NM_017650.2:c.684C>T, NM_001166160.2:c.684C>T, NM_001166160.1:c.684C>T, NM_001166161.1:c.684C>T, NM_001166162.1:c.684C>T, NM_001166163.1:c.684C>T, XM_017012396.2:c.684C>T, XM_017012396.1:c.684C>T, XM_011516381.2:c.684C>T, XM_011516381.1:c.684C>T, XM_017012395.2:c.684C>T, XM_017012395.1:c.684C>T, XM_017012397.2:c.684C>T, XM_017012397.1:c.684C>T, XM_011516389.2:c.684C>T, XM_011516389.1:c.684C>T, XM_017012399.2:c.684C>T, XM_017012399.1:c.684C>T, XM_017012400.2:c.684C>T, XM_017012400.1:c.684C>T, XM_017012401.2:c.684C>T, XM_017012401.1:c.684C>T, XM_017012402.2:c.684C>T, XM_017012402.1:c.684C>T, XM_017012403.2:c.684C>T, XM_017012403.1:c.684C>T, XM_017012405.2:c.684C>T, XM_017012405.1:c.684C>T, XM_017012404.2:c.684C>T, XM_017012404.1:c.684C>T, XM_024446825.2:c.684C>T, XM_024446825.1:c.684C>T, XM_017012406.2:c.684C>T, XM_017012406.1:c.684C>T, XM_017012407.2:c.684C>T, XM_017012407.1:c.684C>T, XM_017012409.2:c.684C>T, XM_017012409.1:c.684C>T, XM_047420575.1:c.684C>T, XM_047420584.1:c.684C>T, XM_047420573.1:c.684C>T, XM_047420574.1:c.684C>T, XM_047420588.1:c.684C>T, XM_047420581.1:c.684C>T, XM_047420576.1:c.684C>T, XM_047420591.1:c.684C>T, XM_047420577.1:c.684C>T, XM_047420592.1:c.684C>T, XM_047420579.1:c.684C>T, XM_047420580.1:c.684C>T, XM_047420590.1:c.684C>T, XM_047420583.1:c.684C>T, XM_047420586.1:c.684C>T, XM_047420585.1:c.684C>T, XM_047420587.1:c.684C>T, XM_047420589.1:c.684C>T, XM_047420593.1:c.684C>T, XM_047420594.1:c.684C>T, XM_047420599.1:c.684C>T, XM_047420598.1:c.684C>T

                                    18.

                                    rs1471532095 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      7:94911503 (GRCh38)
                                      7:94540815 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:94911502:A:C,NC_000007.14:94911502:A:G
                                      Gene:
                                      PPP1R9A (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000054/1 (ALFA)
                                      G=0.000008/2 (GnomAD_exomes)
                                      C=0.000011/3 (TOPMED)
                                      G=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000007.14:g.94911503A>C, NC_000007.14:g.94911503A>G, NC_000007.13:g.94540815A>C, NC_000007.13:g.94540815A>G, NG_015803.1:g.8867A>C, NG_015803.1:g.8867A>G, NM_017650.3:c.1390A>C, NM_017650.3:c.1390A>G, NM_017650.2:c.1390A>C, NM_017650.2:c.1390A>G, NM_001166160.2:c.1390A>C, NM_001166160.2:c.1390A>G, NM_001166160.1:c.1390A>C, NM_001166160.1:c.1390A>G, NM_001166161.1:c.1390A>C, NM_001166161.1:c.1390A>G, NM_001166162.1:c.1390A>C, NM_001166162.1:c.1390A>G, NM_001166163.1:c.1390A>C, NM_001166163.1:c.1390A>G, XM_017012396.2:c.1390A>C, XM_017012396.2:c.1390A>G, XM_017012396.1:c.1390A>C, XM_017012396.1:c.1390A>G, XM_011516381.2:c.1390A>C, XM_011516381.2:c.1390A>G, XM_011516381.1:c.1390A>C, XM_011516381.1:c.1390A>G, XM_017012395.2:c.1390A>C, XM_017012395.2:c.1390A>G, XM_017012395.1:c.1390A>C, XM_017012395.1:c.1390A>G, XM_017012397.2:c.1390A>C, XM_017012397.2:c.1390A>G, XM_017012397.1:c.1390A>C, XM_017012397.1:c.1390A>G, XM_011516389.2:c.1390A>C, XM_011516389.2:c.1390A>G, XM_011516389.1:c.1390A>C, XM_011516389.1:c.1390A>G, XM_017012399.2:c.1390A>C, XM_017012399.2:c.1390A>G, XM_017012399.1:c.1390A>C, XM_017012399.1:c.1390A>G, XM_017012400.2:c.1390A>C, XM_017012400.2:c.1390A>G, XM_017012400.1:c.1390A>C, XM_017012400.1:c.1390A>G, XM_017012401.2:c.1390A>C, XM_017012401.2:c.1390A>G, XM_017012401.1:c.1390A>C, XM_017012401.1:c.1390A>G, XM_017012402.2:c.1390A>C, XM_017012402.2:c.1390A>G, XM_017012402.1:c.1390A>C, XM_017012402.1:c.1390A>G, XM_017012403.2:c.1390A>C, XM_017012403.2:c.1390A>G, XM_017012403.1:c.1390A>C, XM_017012403.1:c.1390A>G, XM_017012405.2:c.1390A>C, XM_017012405.2:c.1390A>G, XM_017012405.1:c.1390A>C, XM_017012405.1:c.1390A>G, XM_017012404.2:c.1390A>C, XM_017012404.2:c.1390A>G, XM_017012404.1:c.1390A>C, XM_017012404.1:c.1390A>G, XM_024446825.2:c.1390A>C, XM_024446825.2:c.1390A>G, XM_024446825.1:c.1390A>C, XM_024446825.1:c.1390A>G, XM_017012406.2:c.1390A>C, XM_017012406.2:c.1390A>G, XM_017012406.1:c.1390A>C, XM_017012406.1:c.1390A>G, XM_017012407.2:c.1390A>C, XM_017012407.2:c.1390A>G, XM_017012407.1:c.1390A>C, XM_017012407.1:c.1390A>G, XM_017012409.2:c.1390A>C, XM_017012409.2:c.1390A>G, XM_017012409.1:c.1390A>C, XM_017012409.1:c.1390A>G, XM_047420575.1:c.1390A>C, XM_047420575.1:c.1390A>G, XM_047420584.1:c.1390A>C, XM_047420584.1:c.1390A>G, XM_047420573.1:c.1390A>C, XM_047420573.1:c.1390A>G, XM_047420574.1:c.1390A>C, XM_047420574.1:c.1390A>G, XM_047420588.1:c.1390A>C, XM_047420588.1:c.1390A>G, XM_047420581.1:c.1390A>C, XM_047420581.1:c.1390A>G, XM_047420576.1:c.1390A>C, XM_047420576.1:c.1390A>G, XM_047420591.1:c.1390A>C, XM_047420591.1:c.1390A>G, XM_047420577.1:c.1390A>C, XM_047420577.1:c.1390A>G, XM_047420592.1:c.1390A>C, XM_047420592.1:c.1390A>G, XM_047420579.1:c.1390A>C, XM_047420579.1:c.1390A>G, XM_047420580.1:c.1390A>C, XM_047420580.1:c.1390A>G, XM_047420590.1:c.1390A>C, XM_047420590.1:c.1390A>G, XM_047420583.1:c.1390A>C, XM_047420583.1:c.1390A>G, XM_047420586.1:c.1390A>C, XM_047420586.1:c.1390A>G, XM_047420585.1:c.1390A>C, XM_047420585.1:c.1390A>G, XM_047420587.1:c.1390A>C, XM_047420587.1:c.1390A>G, XM_047420589.1:c.1390A>C, XM_047420589.1:c.1390A>G, XM_047420593.1:c.1390A>C, XM_047420593.1:c.1390A>G, XM_047420594.1:c.1390A>C, XM_047420594.1:c.1390A>G, XM_047420599.1:c.1390A>C, XM_047420599.1:c.1390A>G, XM_047420598.1:c.1390A>C, XM_047420598.1:c.1390A>G, NP_060120.2:p.Ile464Leu, NP_060120.2:p.Ile464Val, NP_001159632.1:p.Ile464Leu, NP_001159632.1:p.Ile464Val, NP_001159633.1:p.Ile464Leu, NP_001159633.1:p.Ile464Val, NP_001159634.1:p.Ile464Leu, NP_001159634.1:p.Ile464Val, NP_001159635.1:p.Ile464Leu, NP_001159635.1:p.Ile464Val, XP_016867885.1:p.Ile464Leu, XP_016867885.1:p.Ile464Val, XP_011514683.1:p.Ile464Leu, XP_011514683.1:p.Ile464Val, XP_016867884.1:p.Ile464Leu, XP_016867884.1:p.Ile464Val, XP_016867886.1:p.Ile464Leu, XP_016867886.1:p.Ile464Val, XP_011514691.1:p.Ile464Leu, XP_011514691.1:p.Ile464Val, XP_016867888.1:p.Ile464Leu, XP_016867888.1:p.Ile464Val, XP_016867889.1:p.Ile464Leu, XP_016867889.1:p.Ile464Val, XP_016867890.1:p.Ile464Leu, XP_016867890.1:p.Ile464Val, XP_016867891.1:p.Ile464Leu, XP_016867891.1:p.Ile464Val, XP_016867892.1:p.Ile464Leu, XP_016867892.1:p.Ile464Val, XP_016867894.1:p.Ile464Leu, XP_016867894.1:p.Ile464Val, XP_016867893.1:p.Ile464Leu, XP_016867893.1:p.Ile464Val, XP_024302593.1:p.Ile464Leu, XP_024302593.1:p.Ile464Val, XP_016867895.1:p.Ile464Leu, XP_016867895.1:p.Ile464Val, XP_016867896.1:p.Ile464Leu, XP_016867896.1:p.Ile464Val, XP_016867898.1:p.Ile464Leu, XP_016867898.1:p.Ile464Val, XP_047276531.1:p.Ile464Leu, XP_047276531.1:p.Ile464Val, XP_047276540.1:p.Ile464Leu, XP_047276540.1:p.Ile464Val, XP_047276529.1:p.Ile464Leu, XP_047276529.1:p.Ile464Val, XP_047276530.1:p.Ile464Leu, XP_047276530.1:p.Ile464Val, XP_047276544.1:p.Ile464Leu, XP_047276544.1:p.Ile464Val, XP_047276537.1:p.Ile464Leu, XP_047276537.1:p.Ile464Val, XP_047276532.1:p.Ile464Leu, XP_047276532.1:p.Ile464Val, XP_047276547.1:p.Ile464Leu, XP_047276547.1:p.Ile464Val, XP_047276533.1:p.Ile464Leu, XP_047276533.1:p.Ile464Val, XP_047276548.1:p.Ile464Leu, XP_047276548.1:p.Ile464Val, XP_047276535.1:p.Ile464Leu, XP_047276535.1:p.Ile464Val, XP_047276536.1:p.Ile464Leu, XP_047276536.1:p.Ile464Val, XP_047276546.1:p.Ile464Leu, XP_047276546.1:p.Ile464Val, XP_047276539.1:p.Ile464Leu, XP_047276539.1:p.Ile464Val, XP_047276542.1:p.Ile464Leu, XP_047276542.1:p.Ile464Val, XP_047276541.1:p.Ile464Leu, XP_047276541.1:p.Ile464Val, XP_047276543.1:p.Ile464Leu, XP_047276543.1:p.Ile464Val, XP_047276545.1:p.Ile464Leu, XP_047276545.1:p.Ile464Val, XP_047276549.1:p.Ile464Leu, XP_047276549.1:p.Ile464Val, XP_047276550.1:p.Ile464Leu, XP_047276550.1:p.Ile464Val, XP_047276555.1:p.Ile464Leu, XP_047276555.1:p.Ile464Val, XP_047276554.1:p.Ile464Leu, XP_047276554.1:p.Ile464Val

                                      19.

                                      rs1470028191 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        7:95203723 (GRCh38)
                                        7:94833035 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:95203722:T:G
                                        Gene:
                                        PPP1R9A (Varview), PPP1R9A-AS1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000007/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000007.14:g.95203723T>G, NC_000007.13:g.94833035T>G, NG_015803.1:g.301087T>G, NM_001166160.2:c.1949T>G, NM_001166160.1:c.1949T>G, XM_011516381.2:c.2012T>G, XM_011516381.1:c.2012T>G, XM_017012395.2:c.2012T>G, XM_017012395.1:c.2012T>G, XM_017012397.2:c.2012T>G, XM_017012397.1:c.2012T>G, XM_017012401.2:c.1949T>G, XM_017012401.1:c.1949T>G, XM_017012404.2:c.2012T>G, XM_017012404.1:c.2012T>G, XM_024446825.2:c.2012T>G, XM_024446825.1:c.2012T>G, XM_017012409.2:c.2012T>G, XM_017012409.1:c.2012T>G, XM_047420575.1:c.2012T>G, XM_047420584.1:c.1949T>G, XM_047420573.1:c.2012T>G, XM_047420574.1:c.2012T>G, XM_047420576.1:c.2012T>G, XM_047420577.1:c.1949T>G, XM_047420583.1:c.2012T>G, XM_047420585.1:c.1949T>G, XM_047420595.1:c.416T>G, NP_001159632.1:p.Phe650Cys, XP_011514683.1:p.Phe671Cys, XP_016867884.1:p.Phe671Cys, XP_016867886.1:p.Phe671Cys, XP_016867890.1:p.Phe650Cys, XP_016867893.1:p.Phe671Cys, XP_024302593.1:p.Phe671Cys, XP_016867898.1:p.Phe671Cys, XP_047276531.1:p.Phe671Cys, XP_047276540.1:p.Phe650Cys, XP_047276529.1:p.Phe671Cys, XP_047276530.1:p.Phe671Cys, XP_047276532.1:p.Phe671Cys, XP_047276533.1:p.Phe650Cys, XP_047276539.1:p.Phe671Cys, XP_047276541.1:p.Phe650Cys, XP_047276551.1:p.Phe139Cys

                                        20.

                                        rs1468582920 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A [Show Flanks]
                                          Chromosome:
                                          7:94910914 (GRCh38)
                                          7:94540226 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:94910913:T:A
                                          Gene:
                                          PPP1R9A (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.94910914T>A, NC_000007.13:g.94540226T>A, NG_015803.1:g.8278T>A, NM_017650.3:c.801T>A, NM_017650.2:c.801T>A, NM_001166160.2:c.801T>A, NM_001166160.1:c.801T>A, NM_001166161.1:c.801T>A, NM_001166162.1:c.801T>A, NM_001166163.1:c.801T>A, XM_017012396.2:c.801T>A, XM_017012396.1:c.801T>A, XM_011516381.2:c.801T>A, XM_011516381.1:c.801T>A, XM_017012395.2:c.801T>A, XM_017012395.1:c.801T>A, XM_017012397.2:c.801T>A, XM_017012397.1:c.801T>A, XM_011516389.2:c.801T>A, XM_011516389.1:c.801T>A, XM_017012399.2:c.801T>A, XM_017012399.1:c.801T>A, XM_017012400.2:c.801T>A, XM_017012400.1:c.801T>A, XM_017012401.2:c.801T>A, XM_017012401.1:c.801T>A, XM_017012402.2:c.801T>A, XM_017012402.1:c.801T>A, XM_017012403.2:c.801T>A, XM_017012403.1:c.801T>A, XM_017012405.2:c.801T>A, XM_017012405.1:c.801T>A, XM_017012404.2:c.801T>A, XM_017012404.1:c.801T>A, XM_024446825.2:c.801T>A, XM_024446825.1:c.801T>A, XM_017012406.2:c.801T>A, XM_017012406.1:c.801T>A, XM_017012407.2:c.801T>A, XM_017012407.1:c.801T>A, XM_017012409.2:c.801T>A, XM_017012409.1:c.801T>A, XM_047420575.1:c.801T>A, XM_047420584.1:c.801T>A, XM_047420573.1:c.801T>A, XM_047420574.1:c.801T>A, XM_047420588.1:c.801T>A, XM_047420581.1:c.801T>A, XM_047420576.1:c.801T>A, XM_047420591.1:c.801T>A, XM_047420577.1:c.801T>A, XM_047420592.1:c.801T>A, XM_047420579.1:c.801T>A, XM_047420580.1:c.801T>A, XM_047420590.1:c.801T>A, XM_047420583.1:c.801T>A, XM_047420586.1:c.801T>A, XM_047420585.1:c.801T>A, XM_047420587.1:c.801T>A, XM_047420589.1:c.801T>A, XM_047420593.1:c.801T>A, XM_047420594.1:c.801T>A, XM_047420599.1:c.801T>A, XM_047420598.1:c.801T>A, NP_060120.2:p.Asp267Glu, NP_001159632.1:p.Asp267Glu, NP_001159633.1:p.Asp267Glu, NP_001159634.1:p.Asp267Glu, NP_001159635.1:p.Asp267Glu, XP_016867885.1:p.Asp267Glu, XP_011514683.1:p.Asp267Glu, XP_016867884.1:p.Asp267Glu, XP_016867886.1:p.Asp267Glu, XP_011514691.1:p.Asp267Glu, XP_016867888.1:p.Asp267Glu, XP_016867889.1:p.Asp267Glu, XP_016867890.1:p.Asp267Glu, XP_016867891.1:p.Asp267Glu, XP_016867892.1:p.Asp267Glu, XP_016867894.1:p.Asp267Glu, XP_016867893.1:p.Asp267Glu, XP_024302593.1:p.Asp267Glu, XP_016867895.1:p.Asp267Glu, XP_016867896.1:p.Asp267Glu, XP_016867898.1:p.Asp267Glu, XP_047276531.1:p.Asp267Glu, XP_047276540.1:p.Asp267Glu, XP_047276529.1:p.Asp267Glu, XP_047276530.1:p.Asp267Glu, XP_047276544.1:p.Asp267Glu, XP_047276537.1:p.Asp267Glu, XP_047276532.1:p.Asp267Glu, XP_047276547.1:p.Asp267Glu, XP_047276533.1:p.Asp267Glu, XP_047276548.1:p.Asp267Glu, XP_047276535.1:p.Asp267Glu, XP_047276536.1:p.Asp267Glu, XP_047276546.1:p.Asp267Glu, XP_047276539.1:p.Asp267Glu, XP_047276542.1:p.Asp267Glu, XP_047276541.1:p.Asp267Glu, XP_047276543.1:p.Asp267Glu, XP_047276545.1:p.Asp267Glu, XP_047276549.1:p.Asp267Glu, XP_047276550.1:p.Asp267Glu, XP_047276555.1:p.Asp267Glu, XP_047276554.1:p.Asp267Glu

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