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Items: 1 to 20 of 1000

1.

rs1491022597 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TCACA [Show Flanks]
    Chromosome:
    7:95250155 (GRCh38)
    7:94879468 (GRCh37)
    Canonical SPDI:
    NC_000007.14:95250155::TCACA
    Gene:
    PPP1R9A (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCACA=0./0 (ALFA)
    TCACA=0.000004/1 (TOPMED)
    TCACA=0.000007/1 (GnomAD)
    HGVS:
    NC_000007.14:g.95250155_95250156insTCACA, NC_000007.13:g.94879467_94879468insTCACA, NG_015803.1:g.347519_347520insTCACA, NM_017650.3:c.2230_2231insTCACA, NM_017650.2:c.2230_2231insTCACA, NM_001166160.2:c.2296_2297insTCACA, NM_001166160.1:c.2296_2297insTCACA, NM_001166161.1:c.2230_2231insTCACA, NM_001166162.1:c.2230_2231insTCACA, NM_001166163.1:c.2230_2231insTCACA, XM_017012396.2:c.2230_2231insTCACA, XM_017012396.1:c.2230_2231insTCACA, XM_011516381.2:c.2359_2360insTCACA, XM_011516381.1:c.2359_2360insTCACA, XM_017012395.2:c.2359_2360insTCACA, XM_017012395.1:c.2359_2360insTCACA, XM_017012397.2:c.2359_2360insTCACA, XM_017012397.1:c.2359_2360insTCACA, XM_011516389.2:c.2230_2231insTCACA, XM_011516389.1:c.2230_2231insTCACA, XM_017012399.2:c.2230_2231insTCACA, XM_017012399.1:c.2230_2231insTCACA, XM_017012400.2:c.2230_2231insTCACA, XM_017012400.1:c.2230_2231insTCACA, XM_017012401.2:c.2296_2297insTCACA, XM_017012401.1:c.2296_2297insTCACA, XM_017012402.2:c.2230_2231insTCACA, XM_017012402.1:c.2230_2231insTCACA, XM_017012403.2:c.2230_2231insTCACA, XM_017012403.1:c.2230_2231insTCACA, XM_017012405.2:c.2230_2231insTCACA, XM_017012405.1:c.2230_2231insTCACA, XM_017012404.2:c.2359_2360insTCACA, XM_017012404.1:c.2359_2360insTCACA, XM_024446825.2:c.2359_2360insTCACA, XM_024446825.1:c.2359_2360insTCACA, XM_017012406.2:c.2230_2231insTCACA, XM_017012406.1:c.2230_2231insTCACA, XM_017012407.2:c.2230_2231insTCACA, XM_017012407.1:c.2230_2231insTCACA, XM_047420597.1:c.301_302insTCACA, XM_047420575.1:c.2359_2360insTCACA, XM_047420584.1:c.2296_2297insTCACA, XM_047420573.1:c.2359_2360insTCACA, XM_047420574.1:c.2359_2360insTCACA, XM_047420588.1:c.2230_2231insTCACA, XM_047420581.1:c.2230_2231insTCACA, XM_047420576.1:c.2359_2360insTCACA, XM_047420591.1:c.2230_2231insTCACA, XM_047420577.1:c.2296_2297insTCACA, XM_047420592.1:c.2230_2231insTCACA, XM_047420579.1:c.2230_2231insTCACA, XM_047420580.1:c.2230_2231insTCACA, XM_047420590.1:c.2230_2231insTCACA, XM_047420583.1:c.2359_2360insTCACA, XM_047420586.1:c.2230_2231insTCACA, XM_047420585.1:c.2296_2297insTCACA, XM_047420587.1:c.2230_2231insTCACA, XM_047420589.1:c.2230_2231insTCACA, XM_047420593.1:c.2230_2231insTCACA, XM_047420594.1:c.2230_2231insTCACA, XM_047420595.1:c.763_764insTCACA, XM_047420596.1:c.334_335insTCACA, XM_047420600.1:c.334_335insTCACA, NP_060120.2:p.His744fs, NP_001159632.1:p.His766fs, NP_001159633.1:p.His744fs, NP_001159634.1:p.His744fs, NP_001159635.1:p.His744fs, XP_016867885.1:p.His744fs, XP_011514683.1:p.His787fs, XP_016867884.1:p.His787fs, XP_016867886.1:p.His787fs, XP_011514691.1:p.His744fs, XP_016867888.1:p.His744fs, XP_016867889.1:p.His744fs, XP_016867890.1:p.His766fs, XP_016867891.1:p.His744fs, XP_016867892.1:p.His744fs, XP_016867894.1:p.His744fs, XP_016867893.1:p.His787fs, XP_024302593.1:p.His787fs, XP_016867895.1:p.His744fs, XP_016867896.1:p.His744fs, XP_047276553.1:p.His101fs, XP_047276531.1:p.His787fs, XP_047276540.1:p.His766fs, XP_047276529.1:p.His787fs, XP_047276530.1:p.His787fs, XP_047276544.1:p.His744fs, XP_047276537.1:p.His744fs, XP_047276532.1:p.His787fs, XP_047276547.1:p.His744fs, XP_047276533.1:p.His766fs, XP_047276548.1:p.His744fs, XP_047276535.1:p.His744fs, XP_047276536.1:p.His744fs, XP_047276546.1:p.His744fs, XP_047276539.1:p.His787fs, XP_047276542.1:p.His744fs, XP_047276541.1:p.His766fs, XP_047276543.1:p.His744fs, XP_047276545.1:p.His744fs, XP_047276549.1:p.His744fs, XP_047276550.1:p.His744fs, XP_047276551.1:p.His255fs, XP_047276552.1:p.His112fs, XP_047276556.1:p.His112fs

    2.

    rs1490829211 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      7:95290103 (GRCh38)
      7:94919415 (GRCh37)
      Canonical SPDI:
      NC_000007.14:95290102:A:G
      Gene:
      PPP1R9A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.95290103A>G, NC_000007.13:g.94919415A>G, NG_015803.1:g.387467A>G, NM_017650.3:c.3097A>G, NM_017650.2:c.3097A>G, NM_001166160.2:c.3925A>G, NM_001166160.1:c.3925A>G, NM_001166161.1:c.3691A>G, NM_001166162.1:c.3562A>G, NM_001166163.1:c.3073A>G, XM_017012396.2:c.3883A>G, XM_017012396.1:c.3883A>G, XM_011516381.2:c.3988A>G, XM_011516381.1:c.3988A>G, XM_017012395.2:c.3898A>G, XM_017012395.1:c.3898A>G, XM_017012397.2:c.3874A>G, XM_017012397.1:c.3874A>G, XM_011516389.2:c.3859A>G, XM_011516389.1:c.3859A>G, XM_017012399.2:c.3829A>G, XM_017012399.1:c.3829A>G, XM_017012400.2:c.3769A>G, XM_017012400.1:c.3769A>G, XM_017012401.2:c.3757A>G, XM_017012401.1:c.3757A>G, XM_017012402.2:c.3715A>G, XM_017012402.1:c.3715A>G, XM_017012403.2:c.3691A>G, XM_017012403.1:c.3691A>G, XM_017012405.2:c.3097A>G, XM_017012405.1:c.3097A>G, XM_017012404.2:c.3226A>G, XM_017012404.1:c.3226A>G, XM_024446825.2:c.3202A>G, XM_024446825.1:c.3202A>G, XM_017012406.2:c.3097A>G, XM_017012406.1:c.3097A>G, XM_017012407.2:c.3073A>G, XM_017012407.1:c.3073A>G, XM_047420597.1:c.1954A>G, XM_047420575.1:c.4012A>G, XM_047420584.1:c.3811A>G, XM_047420573.1:c.4012A>G, XM_047420574.1:c.4012A>G, XM_047420588.1:c.3745A>G, XM_047420581.1:c.3883A>G, XM_047420576.1:c.3958A>G, XM_047420591.1:c.3715A>G, XM_047420577.1:c.3949A>G, XM_047420592.1:c.3691A>G, XM_047420579.1:c.3883A>G, XM_047420580.1:c.3883A>G, XM_047420590.1:c.3745A>G, XM_047420583.1:c.3820A>G, XM_047420586.1:c.3805A>G, XM_047420585.1:c.3811A>G, XM_047420587.1:c.3745A>G, XM_047420589.1:c.3745A>G, XM_047420593.1:c.3073A>G, XM_047420594.1:c.3073A>G, XM_047420595.1:c.2416A>G, XM_047420596.1:c.1987A>G, XM_047420600.1:c.1849A>G, NP_060120.2:p.Thr1033Ala, NP_001159632.1:p.Thr1309Ala, NP_001159633.1:p.Thr1231Ala, NP_001159634.1:p.Thr1188Ala, NP_001159635.1:p.Thr1025Ala, XP_016867885.1:p.Thr1295Ala, XP_011514683.1:p.Thr1330Ala, XP_016867884.1:p.Thr1300Ala, XP_016867886.1:p.Thr1292Ala, XP_011514691.1:p.Thr1287Ala, XP_016867888.1:p.Thr1277Ala, XP_016867889.1:p.Thr1257Ala, XP_016867890.1:p.Thr1253Ala, XP_016867891.1:p.Thr1239Ala, XP_016867892.1:p.Thr1231Ala, XP_016867894.1:p.Thr1033Ala, XP_016867893.1:p.Thr1076Ala, XP_024302593.1:p.Thr1068Ala, XP_016867895.1:p.Thr1033Ala, XP_016867896.1:p.Thr1025Ala, XP_047276553.1:p.Thr652Ala, XP_047276531.1:p.Thr1338Ala, XP_047276540.1:p.Thr1271Ala, XP_047276529.1:p.Thr1338Ala, XP_047276530.1:p.Thr1338Ala, XP_047276544.1:p.Thr1249Ala, XP_047276537.1:p.Thr1295Ala, XP_047276532.1:p.Thr1320Ala, XP_047276547.1:p.Thr1239Ala, XP_047276533.1:p.Thr1317Ala, XP_047276548.1:p.Thr1231Ala, XP_047276535.1:p.Thr1295Ala, XP_047276536.1:p.Thr1295Ala, XP_047276546.1:p.Thr1249Ala, XP_047276539.1:p.Thr1274Ala, XP_047276542.1:p.Thr1269Ala, XP_047276541.1:p.Thr1271Ala, XP_047276543.1:p.Thr1249Ala, XP_047276545.1:p.Thr1249Ala, XP_047276549.1:p.Thr1025Ala, XP_047276550.1:p.Thr1025Ala, XP_047276551.1:p.Thr806Ala, XP_047276552.1:p.Thr663Ala, XP_047276556.1:p.Thr617Ala

      3.

      rs1490777454 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:95284287 (GRCh38)
        7:94913599 (GRCh37)
        Canonical SPDI:
        NC_000007.14:95284286:G:A
        Gene:
        PPP1R9A (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        A=0.00001/2 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.95284287G>A, NC_000007.13:g.94913599G>A, NG_015803.1:g.381651G>A, NM_001166160.2:c.3566G>A, NM_001166160.1:c.3566G>A, XM_017012396.2:c.3500G>A, XM_017012396.1:c.3500G>A, XM_011516381.2:c.3629G>A, XM_011516381.1:c.3629G>A, XM_011516389.2:c.3500G>A, XM_011516389.1:c.3500G>A, XM_017012399.2:c.3446G>A, XM_017012399.1:c.3446G>A, XM_047420597.1:c.1571G>A, XM_047420575.1:c.3629G>A, XM_047420573.1:c.3629G>A, XM_047420574.1:c.3629G>A, XM_047420581.1:c.3500G>A, XM_047420576.1:c.3575G>A, XM_047420577.1:c.3566G>A, XM_047420579.1:c.3500G>A, XM_047420580.1:c.3500G>A, XM_047420586.1:c.3446G>A, XM_047420595.1:c.2033G>A, XM_047420596.1:c.1604G>A, NP_001159632.1:p.Arg1189Lys, XP_016867885.1:p.Arg1167Lys, XP_011514683.1:p.Arg1210Lys, XP_011514691.1:p.Arg1167Lys, XP_016867888.1:p.Arg1149Lys, XP_047276553.1:p.Arg524Lys, XP_047276531.1:p.Arg1210Lys, XP_047276529.1:p.Arg1210Lys, XP_047276530.1:p.Arg1210Lys, XP_047276537.1:p.Arg1167Lys, XP_047276532.1:p.Arg1192Lys, XP_047276533.1:p.Arg1189Lys, XP_047276535.1:p.Arg1167Lys, XP_047276536.1:p.Arg1167Lys, XP_047276542.1:p.Arg1149Lys, XP_047276551.1:p.Arg678Lys, XP_047276552.1:p.Arg535Lys

        4.

        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

          5.

          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

            6.

            rs1490093696 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              7:95268628 (GRCh38)
              7:94897940 (GRCh37)
              Canonical SPDI:
              NC_000007.14:95268627:A:C
              Gene:
              PPP1R9A (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.0002/1 (ALFA)
              C=0.0002/1 (Estonian)
              HGVS:
              NC_000007.14:g.95268628A>C, NC_000007.13:g.94897940A>C, NG_015803.1:g.365992A>C, NM_017650.3:c.2678A>C, NM_017650.2:c.2678A>C, NM_001166160.2:c.2744A>C, NM_001166160.1:c.2744A>C, NM_001166161.1:c.2678A>C, NM_001166162.1:c.2678A>C, NM_001166163.1:c.2678A>C, XM_017012396.2:c.2678A>C, XM_017012396.1:c.2678A>C, XM_011516381.2:c.2807A>C, XM_011516381.1:c.2807A>C, XM_017012395.2:c.2807A>C, XM_017012395.1:c.2807A>C, XM_017012397.2:c.2807A>C, XM_017012397.1:c.2807A>C, XM_011516389.2:c.2678A>C, XM_011516389.1:c.2678A>C, XM_017012399.2:c.2678A>C, XM_017012399.1:c.2678A>C, XM_017012400.2:c.2678A>C, XM_017012400.1:c.2678A>C, XM_017012401.2:c.2744A>C, XM_017012401.1:c.2744A>C, XM_017012402.2:c.2678A>C, XM_017012402.1:c.2678A>C, XM_017012403.2:c.2678A>C, XM_017012403.1:c.2678A>C, XM_017012405.2:c.2678A>C, XM_017012405.1:c.2678A>C, XM_017012404.2:c.2807A>C, XM_017012404.1:c.2807A>C, XM_024446825.2:c.2807A>C, XM_024446825.1:c.2807A>C, XM_017012406.2:c.2678A>C, XM_017012406.1:c.2678A>C, XM_017012407.2:c.2678A>C, XM_017012407.1:c.2678A>C, XM_047420597.1:c.749A>C, XM_047420575.1:c.2807A>C, XM_047420584.1:c.2744A>C, XM_047420573.1:c.2807A>C, XM_047420574.1:c.2807A>C, XM_047420588.1:c.2678A>C, XM_047420581.1:c.2678A>C, XM_047420576.1:c.2807A>C, XM_047420591.1:c.2678A>C, XM_047420577.1:c.2744A>C, XM_047420592.1:c.2678A>C, XM_047420579.1:c.2678A>C, XM_047420580.1:c.2678A>C, XM_047420590.1:c.2678A>C, XM_047420583.1:c.2807A>C, XM_047420586.1:c.2678A>C, XM_047420585.1:c.2744A>C, XM_047420587.1:c.2678A>C, XM_047420589.1:c.2678A>C, XM_047420593.1:c.2678A>C, XM_047420594.1:c.2678A>C, XM_047420595.1:c.1211A>C, XM_047420596.1:c.782A>C, XM_047420600.1:c.782A>C, NP_060120.2:p.Asn893Thr, NP_001159632.1:p.Asn915Thr, NP_001159633.1:p.Asn893Thr, NP_001159634.1:p.Asn893Thr, NP_001159635.1:p.Asn893Thr, XP_016867885.1:p.Asn893Thr, XP_011514683.1:p.Asn936Thr, XP_016867884.1:p.Asn936Thr, XP_016867886.1:p.Asn936Thr, XP_011514691.1:p.Asn893Thr, XP_016867888.1:p.Asn893Thr, XP_016867889.1:p.Asn893Thr, XP_016867890.1:p.Asn915Thr, XP_016867891.1:p.Asn893Thr, XP_016867892.1:p.Asn893Thr, XP_016867894.1:p.Asn893Thr, XP_016867893.1:p.Asn936Thr, XP_024302593.1:p.Asn936Thr, XP_016867895.1:p.Asn893Thr, XP_016867896.1:p.Asn893Thr, XP_047276553.1:p.Asn250Thr, XP_047276531.1:p.Asn936Thr, XP_047276540.1:p.Asn915Thr, XP_047276529.1:p.Asn936Thr, XP_047276530.1:p.Asn936Thr, XP_047276544.1:p.Asn893Thr, XP_047276537.1:p.Asn893Thr, XP_047276532.1:p.Asn936Thr, XP_047276547.1:p.Asn893Thr, XP_047276533.1:p.Asn915Thr, XP_047276548.1:p.Asn893Thr, XP_047276535.1:p.Asn893Thr, XP_047276536.1:p.Asn893Thr, XP_047276546.1:p.Asn893Thr, XP_047276539.1:p.Asn936Thr, XP_047276542.1:p.Asn893Thr, XP_047276541.1:p.Asn915Thr, XP_047276543.1:p.Asn893Thr, XP_047276545.1:p.Asn893Thr, XP_047276549.1:p.Asn893Thr, XP_047276550.1:p.Asn893Thr, XP_047276551.1:p.Asn404Thr, XP_047276552.1:p.Asn261Thr, XP_047276556.1:p.Asn261Thr

              7.

              rs1489413922 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                7:95284076 (GRCh38)
                7:94913388 (GRCh37)
                Canonical SPDI:
                NC_000007.14:95284075:T:G
                Gene:
                PPP1R9A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_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.95284076T>G, NC_000007.13:g.94913388T>G, NG_015803.1:g.381440T>G, NM_001166160.2:c.3355T>G, NM_001166160.1:c.3355T>G, NM_001166161.1:c.3235T>G, NM_001166162.1:c.3289T>G, XM_017012396.2:c.3289T>G, XM_017012396.1:c.3289T>G, XM_011516381.2:c.3418T>G, XM_011516381.1:c.3418T>G, XM_017012395.2:c.3418T>G, XM_017012395.1:c.3418T>G, XM_017012397.2:c.3418T>G, XM_017012397.1:c.3418T>G, XM_011516389.2:c.3289T>G, XM_011516389.1:c.3289T>G, XM_017012399.2:c.3235T>G, XM_017012399.1:c.3235T>G, XM_017012400.2:c.3289T>G, XM_017012400.1:c.3289T>G, XM_017012401.2:c.3301T>G, XM_017012401.1:c.3301T>G, XM_017012402.2:c.3235T>G, XM_017012402.1:c.3235T>G, XM_017012403.2:c.3235T>G, XM_017012403.1:c.3235T>G, XM_047420597.1:c.1360T>G, XM_047420575.1:c.3418T>G, XM_047420584.1:c.3355T>G, XM_047420573.1:c.3418T>G, XM_047420574.1:c.3418T>G, XM_047420588.1:c.3289T>G, XM_047420581.1:c.3289T>G, XM_047420576.1:c.3364T>G, XM_047420591.1:c.3235T>G, XM_047420577.1:c.3355T>G, XM_047420592.1:c.3235T>G, XM_047420579.1:c.3289T>G, XM_047420580.1:c.3289T>G, XM_047420590.1:c.3289T>G, XM_047420583.1:c.3364T>G, XM_047420586.1:c.3235T>G, XM_047420585.1:c.3355T>G, XM_047420587.1:c.3289T>G, XM_047420589.1:c.3289T>G, XM_047420595.1:c.1822T>G, XM_047420596.1:c.1393T>G, XM_047420600.1:c.1393T>G, NP_001159632.1:p.Ser1119Ala, NP_001159633.1:p.Ser1079Ala, NP_001159634.1:p.Ser1097Ala, XP_016867885.1:p.Ser1097Ala, XP_011514683.1:p.Ser1140Ala, XP_016867884.1:p.Ser1140Ala, XP_016867886.1:p.Ser1140Ala, XP_011514691.1:p.Ser1097Ala, XP_016867888.1:p.Ser1079Ala, XP_016867889.1:p.Ser1097Ala, XP_016867890.1:p.Ser1101Ala, XP_016867891.1:p.Ser1079Ala, XP_016867892.1:p.Ser1079Ala, XP_047276553.1:p.Ser454Ala, XP_047276531.1:p.Ser1140Ala, XP_047276540.1:p.Ser1119Ala, XP_047276529.1:p.Ser1140Ala, XP_047276530.1:p.Ser1140Ala, XP_047276544.1:p.Ser1097Ala, XP_047276537.1:p.Ser1097Ala, XP_047276532.1:p.Ser1122Ala, XP_047276547.1:p.Ser1079Ala, XP_047276533.1:p.Ser1119Ala, XP_047276548.1:p.Ser1079Ala, XP_047276535.1:p.Ser1097Ala, XP_047276536.1:p.Ser1097Ala, XP_047276546.1:p.Ser1097Ala, XP_047276539.1:p.Ser1122Ala, XP_047276542.1:p.Ser1079Ala, XP_047276541.1:p.Ser1119Ala, XP_047276543.1:p.Ser1097Ala, XP_047276545.1:p.Ser1097Ala, XP_047276551.1:p.Ser608Ala, XP_047276552.1:p.Ser465Ala, XP_047276556.1:p.Ser465Ala

                8.

                rs1489403185 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  7:95251959 (GRCh38)
                  7:94881271 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:95251958:A:G
                  Gene:
                  PPP1R9A (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000007.14:g.95251959A>G, NC_000007.13:g.94881271A>G, NG_015803.1:g.349323A>G, NM_017650.3:c.2428A>G, NM_017650.2:c.2428A>G, NM_001166160.2:c.2494A>G, NM_001166160.1:c.2494A>G, NM_001166161.1:c.2428A>G, NM_001166162.1:c.2428A>G, NM_001166163.1:c.2428A>G, XM_017012396.2:c.2428A>G, XM_017012396.1:c.2428A>G, XM_011516381.2:c.2557A>G, XM_011516381.1:c.2557A>G, XM_017012395.2:c.2557A>G, XM_017012395.1:c.2557A>G, XM_017012397.2:c.2557A>G, XM_017012397.1:c.2557A>G, XM_011516389.2:c.2428A>G, XM_011516389.1:c.2428A>G, XM_017012399.2:c.2428A>G, XM_017012399.1:c.2428A>G, XM_017012400.2:c.2428A>G, XM_017012400.1:c.2428A>G, XM_017012401.2:c.2494A>G, XM_017012401.1:c.2494A>G, XM_017012402.2:c.2428A>G, XM_017012402.1:c.2428A>G, XM_017012403.2:c.2428A>G, XM_017012403.1:c.2428A>G, XM_017012405.2:c.2428A>G, XM_017012405.1:c.2428A>G, XM_017012404.2:c.2557A>G, XM_017012404.1:c.2557A>G, XM_024446825.2:c.2557A>G, XM_024446825.1:c.2557A>G, XM_017012406.2:c.2428A>G, XM_017012406.1:c.2428A>G, XM_017012407.2:c.2428A>G, XM_017012407.1:c.2428A>G, XM_047420597.1:c.499A>G, XM_047420575.1:c.2557A>G, XM_047420584.1:c.2494A>G, XM_047420573.1:c.2557A>G, XM_047420574.1:c.2557A>G, XM_047420588.1:c.2428A>G, XM_047420581.1:c.2428A>G, XM_047420576.1:c.2557A>G, XM_047420591.1:c.2428A>G, XM_047420577.1:c.2494A>G, XM_047420592.1:c.2428A>G, XM_047420579.1:c.2428A>G, XM_047420580.1:c.2428A>G, XM_047420590.1:c.2428A>G, XM_047420583.1:c.2557A>G, XM_047420586.1:c.2428A>G, XM_047420585.1:c.2494A>G, XM_047420587.1:c.2428A>G, XM_047420589.1:c.2428A>G, XM_047420593.1:c.2428A>G, XM_047420594.1:c.2428A>G, XM_047420595.1:c.961A>G, XM_047420596.1:c.532A>G, XM_047420600.1:c.532A>G, NP_060120.2:p.Ile810Val, NP_001159632.1:p.Ile832Val, NP_001159633.1:p.Ile810Val, NP_001159634.1:p.Ile810Val, NP_001159635.1:p.Ile810Val, XP_016867885.1:p.Ile810Val, XP_011514683.1:p.Ile853Val, XP_016867884.1:p.Ile853Val, XP_016867886.1:p.Ile853Val, XP_011514691.1:p.Ile810Val, XP_016867888.1:p.Ile810Val, XP_016867889.1:p.Ile810Val, XP_016867890.1:p.Ile832Val, XP_016867891.1:p.Ile810Val, XP_016867892.1:p.Ile810Val, XP_016867894.1:p.Ile810Val, XP_016867893.1:p.Ile853Val, XP_024302593.1:p.Ile853Val, XP_016867895.1:p.Ile810Val, XP_016867896.1:p.Ile810Val, XP_047276553.1:p.Ile167Val, XP_047276531.1:p.Ile853Val, XP_047276540.1:p.Ile832Val, XP_047276529.1:p.Ile853Val, XP_047276530.1:p.Ile853Val, XP_047276544.1:p.Ile810Val, XP_047276537.1:p.Ile810Val, XP_047276532.1:p.Ile853Val, XP_047276547.1:p.Ile810Val, XP_047276533.1:p.Ile832Val, XP_047276548.1:p.Ile810Val, XP_047276535.1:p.Ile810Val, XP_047276536.1:p.Ile810Val, XP_047276546.1:p.Ile810Val, XP_047276539.1:p.Ile853Val, XP_047276542.1:p.Ile810Val, XP_047276541.1:p.Ile832Val, XP_047276543.1:p.Ile810Val, XP_047276545.1:p.Ile810Val, XP_047276549.1:p.Ile810Val, XP_047276550.1:p.Ile810Val, XP_047276551.1:p.Ile321Val, XP_047276552.1:p.Ile178Val, XP_047276556.1:p.Ile178Val

                  9.

                  rs1489338323 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    7:95268632 (GRCh38)
                    7:94897944 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:95268631:A:G
                    Gene:
                    PPP1R9A (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000007.14:g.95268632A>G, NC_000007.13:g.94897944A>G, NG_015803.1:g.365996A>G, NM_017650.3:c.2682A>G, NM_017650.2:c.2682A>G, NM_001166160.2:c.2748A>G, NM_001166160.1:c.2748A>G, NM_001166161.1:c.2682A>G, NM_001166162.1:c.2682A>G, NM_001166163.1:c.2682A>G, XM_017012396.2:c.2682A>G, XM_017012396.1:c.2682A>G, XM_011516381.2:c.2811A>G, XM_011516381.1:c.2811A>G, XM_017012395.2:c.2811A>G, XM_017012395.1:c.2811A>G, XM_017012397.2:c.2811A>G, XM_017012397.1:c.2811A>G, XM_011516389.2:c.2682A>G, XM_011516389.1:c.2682A>G, XM_017012399.2:c.2682A>G, XM_017012399.1:c.2682A>G, XM_017012400.2:c.2682A>G, XM_017012400.1:c.2682A>G, XM_017012401.2:c.2748A>G, XM_017012401.1:c.2748A>G, XM_017012402.2:c.2682A>G, XM_017012402.1:c.2682A>G, XM_017012403.2:c.2682A>G, XM_017012403.1:c.2682A>G, XM_017012405.2:c.2682A>G, XM_017012405.1:c.2682A>G, XM_017012404.2:c.2811A>G, XM_017012404.1:c.2811A>G, XM_024446825.2:c.2811A>G, XM_024446825.1:c.2811A>G, XM_017012406.2:c.2682A>G, XM_017012406.1:c.2682A>G, XM_017012407.2:c.2682A>G, XM_017012407.1:c.2682A>G, XM_047420597.1:c.753A>G, XM_047420575.1:c.2811A>G, XM_047420584.1:c.2748A>G, XM_047420573.1:c.2811A>G, XM_047420574.1:c.2811A>G, XM_047420588.1:c.2682A>G, XM_047420581.1:c.2682A>G, XM_047420576.1:c.2811A>G, XM_047420591.1:c.2682A>G, XM_047420577.1:c.2748A>G, XM_047420592.1:c.2682A>G, XM_047420579.1:c.2682A>G, XM_047420580.1:c.2682A>G, XM_047420590.1:c.2682A>G, XM_047420583.1:c.2811A>G, XM_047420586.1:c.2682A>G, XM_047420585.1:c.2748A>G, XM_047420587.1:c.2682A>G, XM_047420589.1:c.2682A>G, XM_047420593.1:c.2682A>G, XM_047420594.1:c.2682A>G, XM_047420595.1:c.1215A>G, XM_047420596.1:c.786A>G, XM_047420600.1:c.786A>G

                    10.

                    rs1488884331 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      7:95284092 (GRCh38)
                      7:94913404 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:95284091:G:C
                      Gene:
                      PPP1R9A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000021/3 (GnomAD)
                      C=0.000038/10 (TOPMED)
                      HGVS:
                      NC_000007.14:g.95284092G>C, NC_000007.13:g.94913404G>C, NG_015803.1:g.381456G>C, NM_001166160.2:c.3371G>C, NM_001166160.1:c.3371G>C, NM_001166161.1:c.3251G>C, NM_001166162.1:c.3305G>C, XM_017012396.2:c.3305G>C, XM_017012396.1:c.3305G>C, XM_011516381.2:c.3434G>C, XM_011516381.1:c.3434G>C, XM_017012395.2:c.3434G>C, XM_017012395.1:c.3434G>C, XM_017012397.2:c.3434G>C, XM_017012397.1:c.3434G>C, XM_011516389.2:c.3305G>C, XM_011516389.1:c.3305G>C, XM_017012399.2:c.3251G>C, XM_017012399.1:c.3251G>C, XM_017012400.2:c.3305G>C, XM_017012400.1:c.3305G>C, XM_017012401.2:c.3317G>C, XM_017012401.1:c.3317G>C, XM_017012402.2:c.3251G>C, XM_017012402.1:c.3251G>C, XM_017012403.2:c.3251G>C, XM_017012403.1:c.3251G>C, XM_047420597.1:c.1376G>C, XM_047420575.1:c.3434G>C, XM_047420584.1:c.3371G>C, XM_047420573.1:c.3434G>C, XM_047420574.1:c.3434G>C, XM_047420588.1:c.3305G>C, XM_047420581.1:c.3305G>C, XM_047420576.1:c.3380G>C, XM_047420591.1:c.3251G>C, XM_047420577.1:c.3371G>C, XM_047420592.1:c.3251G>C, XM_047420579.1:c.3305G>C, XM_047420580.1:c.3305G>C, XM_047420590.1:c.3305G>C, XM_047420583.1:c.3380G>C, XM_047420586.1:c.3251G>C, XM_047420585.1:c.3371G>C, XM_047420587.1:c.3305G>C, XM_047420589.1:c.3305G>C, XM_047420595.1:c.1838G>C, XM_047420596.1:c.1409G>C, XM_047420600.1:c.1409G>C, NP_001159632.1:p.Cys1124Ser, NP_001159633.1:p.Cys1084Ser, NP_001159634.1:p.Cys1102Ser, XP_016867885.1:p.Cys1102Ser, XP_011514683.1:p.Cys1145Ser, XP_016867884.1:p.Cys1145Ser, XP_016867886.1:p.Cys1145Ser, XP_011514691.1:p.Cys1102Ser, XP_016867888.1:p.Cys1084Ser, XP_016867889.1:p.Cys1102Ser, XP_016867890.1:p.Cys1106Ser, XP_016867891.1:p.Cys1084Ser, XP_016867892.1:p.Cys1084Ser, XP_047276553.1:p.Cys459Ser, XP_047276531.1:p.Cys1145Ser, XP_047276540.1:p.Cys1124Ser, XP_047276529.1:p.Cys1145Ser, XP_047276530.1:p.Cys1145Ser, XP_047276544.1:p.Cys1102Ser, XP_047276537.1:p.Cys1102Ser, XP_047276532.1:p.Cys1127Ser, XP_047276547.1:p.Cys1084Ser, XP_047276533.1:p.Cys1124Ser, XP_047276548.1:p.Cys1084Ser, XP_047276535.1:p.Cys1102Ser, XP_047276536.1:p.Cys1102Ser, XP_047276546.1:p.Cys1102Ser, XP_047276539.1:p.Cys1127Ser, XP_047276542.1:p.Cys1084Ser, XP_047276541.1:p.Cys1124Ser, XP_047276543.1:p.Cys1102Ser, XP_047276545.1:p.Cys1102Ser, XP_047276551.1:p.Cys613Ser, XP_047276552.1:p.Cys470Ser, XP_047276556.1:p.Cys470Ser

                      11.

                      rs1488616225 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        7:95274122 (GRCh38)
                        7:94903434 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:95274121:T:C
                        Gene:
                        PPP1R9A (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000005/1 (GnomAD_exomes)
                        HGVS:
                        NC_000007.14:g.95274122T>C, NC_000007.13:g.94903434T>C, NG_015803.1:g.371486T>C, NM_001166160.2:c.3250T>C, NM_001166160.1:c.3250T>C, NM_001166161.1:c.3130T>C, NM_001166162.1:c.3184T>C, XM_017012396.2:c.3184T>C, XM_017012396.1:c.3184T>C, XM_011516381.2:c.3313T>C, XM_011516381.1:c.3313T>C, XM_017012395.2:c.3313T>C, XM_017012395.1:c.3313T>C, XM_017012397.2:c.3313T>C, XM_017012397.1:c.3313T>C, XM_011516389.2:c.3184T>C, XM_011516389.1:c.3184T>C, XM_017012399.2:c.3130T>C, XM_017012399.1:c.3130T>C, XM_017012400.2:c.3184T>C, XM_017012400.1:c.3184T>C, XM_017012401.2:c.3196T>C, XM_017012401.1:c.3196T>C, XM_017012402.2:c.3130T>C, XM_017012402.1:c.3130T>C, XM_017012403.2:c.3130T>C, XM_017012403.1:c.3130T>C, XM_047420597.1:c.1255T>C, XM_047420575.1:c.3313T>C, XM_047420584.1:c.3250T>C, XM_047420573.1:c.3313T>C, XM_047420574.1:c.3313T>C, XM_047420588.1:c.3184T>C, XM_047420581.1:c.3184T>C, XM_047420576.1:c.3259T>C, XM_047420591.1:c.3130T>C, XM_047420577.1:c.3250T>C, XM_047420592.1:c.3130T>C, XM_047420579.1:c.3184T>C, XM_047420580.1:c.3184T>C, XM_047420590.1:c.3184T>C, XM_047420583.1:c.3259T>C, XM_047420586.1:c.3130T>C, XM_047420585.1:c.3250T>C, XM_047420587.1:c.3184T>C, XM_047420589.1:c.3184T>C, XM_047420595.1:c.1717T>C, XM_047420596.1:c.1288T>C, XM_047420600.1:c.1288T>C, NP_001159632.1:p.Trp1084Arg, NP_001159633.1:p.Trp1044Arg, NP_001159634.1:p.Trp1062Arg, XP_016867885.1:p.Trp1062Arg, XP_011514683.1:p.Trp1105Arg, XP_016867884.1:p.Trp1105Arg, XP_016867886.1:p.Trp1105Arg, XP_011514691.1:p.Trp1062Arg, XP_016867888.1:p.Trp1044Arg, XP_016867889.1:p.Trp1062Arg, XP_016867890.1:p.Trp1066Arg, XP_016867891.1:p.Trp1044Arg, XP_016867892.1:p.Trp1044Arg, XP_047276553.1:p.Trp419Arg, XP_047276531.1:p.Trp1105Arg, XP_047276540.1:p.Trp1084Arg, XP_047276529.1:p.Trp1105Arg, XP_047276530.1:p.Trp1105Arg, XP_047276544.1:p.Trp1062Arg, XP_047276537.1:p.Trp1062Arg, XP_047276532.1:p.Trp1087Arg, XP_047276547.1:p.Trp1044Arg, XP_047276533.1:p.Trp1084Arg, XP_047276548.1:p.Trp1044Arg, XP_047276535.1:p.Trp1062Arg, XP_047276536.1:p.Trp1062Arg, XP_047276546.1:p.Trp1062Arg, XP_047276539.1:p.Trp1087Arg, XP_047276542.1:p.Trp1044Arg, XP_047276541.1:p.Trp1084Arg, XP_047276543.1:p.Trp1062Arg, XP_047276545.1:p.Trp1062Arg, XP_047276551.1:p.Trp573Arg, XP_047276552.1:p.Trp430Arg, XP_047276556.1:p.Trp430Arg

                        12.

                        rs1487559691 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          7:95288537 (GRCh38)
                          7:94917849 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:95288536:T:C
                          Gene:
                          PPP1R9A (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000007.14:g.95288537T>C, NC_000007.13:g.94917849T>C, NG_015803.1:g.385901T>C, NM_017650.3:c.2903T>C, NM_017650.2:c.2903T>C, NM_001166160.2:c.3731T>C, NM_001166160.1:c.3731T>C, NM_001166161.1:c.3497T>C, NM_001166163.1:c.2879T>C, XM_017012396.2:c.3689T>C, XM_017012396.1:c.3689T>C, XM_011516381.2:c.3794T>C, XM_011516381.1:c.3794T>C, XM_017012395.2:c.3704T>C, XM_017012395.1:c.3704T>C, XM_017012397.2:c.3680T>C, XM_017012397.1:c.3680T>C, XM_011516389.2:c.3665T>C, XM_011516389.1:c.3665T>C, XM_017012399.2:c.3635T>C, XM_017012399.1:c.3635T>C, XM_017012400.2:c.3575T>C, XM_017012400.1:c.3575T>C, XM_017012401.2:c.3563T>C, XM_017012401.1:c.3563T>C, XM_017012402.2:c.3521T>C, XM_017012402.1:c.3521T>C, XM_017012403.2:c.3497T>C, XM_017012403.1:c.3497T>C, XM_017012405.2:c.2903T>C, XM_017012405.1:c.2903T>C, XM_017012404.2:c.3032T>C, XM_017012404.1:c.3032T>C, XM_024446825.2:c.3008T>C, XM_024446825.1:c.3008T>C, XM_017012406.2:c.2903T>C, XM_017012406.1:c.2903T>C, XM_017012407.2:c.2879T>C, XM_017012407.1:c.2879T>C, XM_047420597.1:c.1760T>C, XM_047420575.1:c.3818T>C, XM_047420584.1:c.3617T>C, XM_047420573.1:c.3818T>C, XM_047420574.1:c.3818T>C, XM_047420588.1:c.3551T>C, XM_047420581.1:c.3689T>C, XM_047420576.1:c.3764T>C, XM_047420591.1:c.3521T>C, XM_047420577.1:c.3755T>C, XM_047420592.1:c.3497T>C, XM_047420579.1:c.3689T>C, XM_047420580.1:c.3689T>C, XM_047420590.1:c.3551T>C, XM_047420583.1:c.3626T>C, XM_047420586.1:c.3611T>C, XM_047420585.1:c.3617T>C, XM_047420587.1:c.3551T>C, XM_047420589.1:c.3551T>C, XM_047420593.1:c.2879T>C, XM_047420594.1:c.2879T>C, XM_047420595.1:c.2222T>C, XM_047420596.1:c.1793T>C, XM_047420600.1:c.1655T>C, NP_060120.2:p.Ile968Thr, NP_001159632.1:p.Ile1244Thr, NP_001159633.1:p.Ile1166Thr, NP_001159635.1:p.Ile960Thr, XP_016867885.1:p.Ile1230Thr, XP_011514683.1:p.Ile1265Thr, XP_016867884.1:p.Ile1235Thr, XP_016867886.1:p.Ile1227Thr, XP_011514691.1:p.Ile1222Thr, XP_016867888.1:p.Ile1212Thr, XP_016867889.1:p.Ile1192Thr, XP_016867890.1:p.Ile1188Thr, XP_016867891.1:p.Ile1174Thr, XP_016867892.1:p.Ile1166Thr, XP_016867894.1:p.Ile968Thr, XP_016867893.1:p.Ile1011Thr, XP_024302593.1:p.Ile1003Thr, XP_016867895.1:p.Ile968Thr, XP_016867896.1:p.Ile960Thr, XP_047276553.1:p.Ile587Thr, XP_047276531.1:p.Ile1273Thr, XP_047276540.1:p.Ile1206Thr, XP_047276529.1:p.Ile1273Thr, XP_047276530.1:p.Ile1273Thr, XP_047276544.1:p.Ile1184Thr, XP_047276537.1:p.Ile1230Thr, XP_047276532.1:p.Ile1255Thr, XP_047276547.1:p.Ile1174Thr, XP_047276533.1:p.Ile1252Thr, XP_047276548.1:p.Ile1166Thr, XP_047276535.1:p.Ile1230Thr, XP_047276536.1:p.Ile1230Thr, XP_047276546.1:p.Ile1184Thr, XP_047276539.1:p.Ile1209Thr, XP_047276542.1:p.Ile1204Thr, XP_047276541.1:p.Ile1206Thr, XP_047276543.1:p.Ile1184Thr, XP_047276545.1:p.Ile1184Thr, XP_047276549.1:p.Ile960Thr, XP_047276550.1:p.Ile960Thr, XP_047276551.1:p.Ile741Thr, XP_047276552.1:p.Ile598Thr, XP_047276556.1:p.Ile552Thr

                          13.

                          rs1486871790 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            7:95288546 (GRCh38)
                            7:94917858 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:95288545:A:G
                            Gene:
                            PPP1R9A (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000007/1 (GnomAD)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000007.14:g.95288546A>G, NC_000007.13:g.94917858A>G, NG_015803.1:g.385910A>G, NM_017650.3:c.2912A>G, NM_017650.2:c.2912A>G, NM_001166160.2:c.3740A>G, NM_001166160.1:c.3740A>G, NM_001166161.1:c.3506A>G, NM_001166163.1:c.2888A>G, XM_017012396.2:c.3698A>G, XM_017012396.1:c.3698A>G, XM_011516381.2:c.3803A>G, XM_011516381.1:c.3803A>G, XM_017012395.2:c.3713A>G, XM_017012395.1:c.3713A>G, XM_017012397.2:c.3689A>G, XM_017012397.1:c.3689A>G, XM_011516389.2:c.3674A>G, XM_011516389.1:c.3674A>G, XM_017012399.2:c.3644A>G, XM_017012399.1:c.3644A>G, XM_017012400.2:c.3584A>G, XM_017012400.1:c.3584A>G, XM_017012401.2:c.3572A>G, XM_017012401.1:c.3572A>G, XM_017012402.2:c.3530A>G, XM_017012402.1:c.3530A>G, XM_017012403.2:c.3506A>G, XM_017012403.1:c.3506A>G, XM_017012405.2:c.2912A>G, XM_017012405.1:c.2912A>G, XM_017012404.2:c.3041A>G, XM_017012404.1:c.3041A>G, XM_024446825.2:c.3017A>G, XM_024446825.1:c.3017A>G, XM_017012406.2:c.2912A>G, XM_017012406.1:c.2912A>G, XM_017012407.2:c.2888A>G, XM_017012407.1:c.2888A>G, XM_047420597.1:c.1769A>G, XM_047420575.1:c.3827A>G, XM_047420584.1:c.3626A>G, XM_047420573.1:c.3827A>G, XM_047420574.1:c.3827A>G, XM_047420588.1:c.3560A>G, XM_047420581.1:c.3698A>G, XM_047420576.1:c.3773A>G, XM_047420591.1:c.3530A>G, XM_047420577.1:c.3764A>G, XM_047420592.1:c.3506A>G, XM_047420579.1:c.3698A>G, XM_047420580.1:c.3698A>G, XM_047420590.1:c.3560A>G, XM_047420583.1:c.3635A>G, XM_047420586.1:c.3620A>G, XM_047420585.1:c.3626A>G, XM_047420587.1:c.3560A>G, XM_047420589.1:c.3560A>G, XM_047420593.1:c.2888A>G, XM_047420594.1:c.2888A>G, XM_047420595.1:c.2231A>G, XM_047420596.1:c.1802A>G, XM_047420600.1:c.1664A>G, NP_060120.2:p.Asp971Gly, NP_001159632.1:p.Asp1247Gly, NP_001159633.1:p.Asp1169Gly, NP_001159635.1:p.Asp963Gly, XP_016867885.1:p.Asp1233Gly, XP_011514683.1:p.Asp1268Gly, XP_016867884.1:p.Asp1238Gly, XP_016867886.1:p.Asp1230Gly, XP_011514691.1:p.Asp1225Gly, XP_016867888.1:p.Asp1215Gly, XP_016867889.1:p.Asp1195Gly, XP_016867890.1:p.Asp1191Gly, XP_016867891.1:p.Asp1177Gly, XP_016867892.1:p.Asp1169Gly, XP_016867894.1:p.Asp971Gly, XP_016867893.1:p.Asp1014Gly, XP_024302593.1:p.Asp1006Gly, XP_016867895.1:p.Asp971Gly, XP_016867896.1:p.Asp963Gly, XP_047276553.1:p.Asp590Gly, XP_047276531.1:p.Asp1276Gly, XP_047276540.1:p.Asp1209Gly, XP_047276529.1:p.Asp1276Gly, XP_047276530.1:p.Asp1276Gly, XP_047276544.1:p.Asp1187Gly, XP_047276537.1:p.Asp1233Gly, XP_047276532.1:p.Asp1258Gly, XP_047276547.1:p.Asp1177Gly, XP_047276533.1:p.Asp1255Gly, XP_047276548.1:p.Asp1169Gly, XP_047276535.1:p.Asp1233Gly, XP_047276536.1:p.Asp1233Gly, XP_047276546.1:p.Asp1187Gly, XP_047276539.1:p.Asp1212Gly, XP_047276542.1:p.Asp1207Gly, XP_047276541.1:p.Asp1209Gly, XP_047276543.1:p.Asp1187Gly, XP_047276545.1:p.Asp1187Gly, XP_047276549.1:p.Asp963Gly, XP_047276550.1:p.Asp963Gly, XP_047276551.1:p.Asp744Gly, XP_047276552.1:p.Asp601Gly, XP_047276556.1:p.Asp555Gly

                            14.

                            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

                              15.

                              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

                                16.

                                rs1486237591 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  7:95247476 (GRCh38)
                                  7:94876788 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:95247475:C:A
                                  Gene:
                                  PPP1R9A (Varview)
                                  Functional Consequence:
                                  downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000008/2 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.95247476C>A, NC_000007.13:g.94876788C>A, NG_015803.1:g.344840C>A, NM_017650.3:c.2050C>A, NM_017650.2:c.2050C>A, NM_001166160.2:c.2116C>A, NM_001166160.1:c.2116C>A, NM_001166161.1:c.2050C>A, NM_001166162.1:c.2050C>A, NM_001166163.1:c.2050C>A, XM_017012396.2:c.2050C>A, XM_017012396.1:c.2050C>A, XM_011516381.2:c.2179C>A, XM_011516381.1:c.2179C>A, XM_017012395.2:c.2179C>A, XM_017012395.1:c.2179C>A, XM_017012397.2:c.2179C>A, XM_017012397.1:c.2179C>A, XM_011516389.2:c.2050C>A, XM_011516389.1:c.2050C>A, XM_017012399.2:c.2050C>A, XM_017012399.1:c.2050C>A, XM_017012400.2:c.2050C>A, XM_017012400.1:c.2050C>A, XM_017012401.2:c.2116C>A, XM_017012401.1:c.2116C>A, XM_017012402.2:c.2050C>A, XM_017012402.1:c.2050C>A, XM_017012403.2:c.2050C>A, XM_017012403.1:c.2050C>A, XM_017012405.2:c.2050C>A, XM_017012405.1:c.2050C>A, XM_017012404.2:c.2179C>A, XM_017012404.1:c.2179C>A, XM_024446825.2:c.2179C>A, XM_024446825.1:c.2179C>A, XM_017012406.2:c.2050C>A, XM_017012406.1:c.2050C>A, XM_017012407.2:c.2050C>A, XM_017012407.1:c.2050C>A, XM_047420597.1:c.121C>A, XM_047420575.1:c.2179C>A, XM_047420584.1:c.2116C>A, XM_047420573.1:c.2179C>A, XM_047420574.1:c.2179C>A, XM_047420588.1:c.2050C>A, XM_047420581.1:c.2050C>A, XM_047420576.1:c.2179C>A, XM_047420591.1:c.2050C>A, XM_047420577.1:c.2116C>A, XM_047420592.1:c.2050C>A, XM_047420579.1:c.2050C>A, XM_047420580.1:c.2050C>A, XM_047420590.1:c.2050C>A, XM_047420583.1:c.2179C>A, XM_047420586.1:c.2050C>A, XM_047420585.1:c.2116C>A, XM_047420587.1:c.2050C>A, XM_047420589.1:c.2050C>A, XM_047420593.1:c.2050C>A, XM_047420594.1:c.2050C>A, XM_047420595.1:c.583C>A, XM_047420596.1:c.154C>A, XM_047420600.1:c.154C>A, NP_060120.2:p.Gln684Lys, NP_001159632.1:p.Gln706Lys, NP_001159633.1:p.Gln684Lys, NP_001159634.1:p.Gln684Lys, NP_001159635.1:p.Gln684Lys, XP_016867885.1:p.Gln684Lys, XP_011514683.1:p.Gln727Lys, XP_016867884.1:p.Gln727Lys, XP_016867886.1:p.Gln727Lys, XP_011514691.1:p.Gln684Lys, XP_016867888.1:p.Gln684Lys, XP_016867889.1:p.Gln684Lys, XP_016867890.1:p.Gln706Lys, XP_016867891.1:p.Gln684Lys, XP_016867892.1:p.Gln684Lys, XP_016867894.1:p.Gln684Lys, XP_016867893.1:p.Gln727Lys, XP_024302593.1:p.Gln727Lys, XP_016867895.1:p.Gln684Lys, XP_016867896.1:p.Gln684Lys, XP_047276553.1:p.Gln41Lys, XP_047276531.1:p.Gln727Lys, XP_047276540.1:p.Gln706Lys, XP_047276529.1:p.Gln727Lys, XP_047276530.1:p.Gln727Lys, XP_047276544.1:p.Gln684Lys, XP_047276537.1:p.Gln684Lys, XP_047276532.1:p.Gln727Lys, XP_047276547.1:p.Gln684Lys, XP_047276533.1:p.Gln706Lys, XP_047276548.1:p.Gln684Lys, XP_047276535.1:p.Gln684Lys, XP_047276536.1:p.Gln684Lys, XP_047276546.1:p.Gln684Lys, XP_047276539.1:p.Gln727Lys, XP_047276542.1:p.Gln684Lys, XP_047276541.1:p.Gln706Lys, XP_047276543.1:p.Gln684Lys, XP_047276545.1:p.Gln684Lys, XP_047276549.1:p.Gln684Lys, XP_047276550.1:p.Gln684Lys, XP_047276551.1:p.Gln195Lys, XP_047276552.1:p.Gln52Lys, XP_047276556.1:p.Gln52Lys

                                  17.

                                  rs1485367722 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GCATAT>- [Show Flanks]
                                    Chromosome:
                                    7:95269233 (GRCh38)
                                    7:94898545 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:95269230:ATGCATAT:AT
                                    Gene:
                                    PPP1R9A (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,inframe_deletion,intron_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    -=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000007.14:g.95269233_95269238del, NC_000007.13:g.94898545_94898550del, NG_015803.1:g.366597_366602del, NM_001166160.2:c.2850_2855del, NM_001166160.1:c.2850_2855del, NM_001166162.1:c.2784_2789del, XM_017012396.2:c.2784_2789del, XM_017012396.1:c.2784_2789del, XM_011516381.2:c.2913_2918del, XM_011516381.1:c.2913_2918del, XM_017012395.2:c.2913_2918del, XM_017012395.1:c.2913_2918del, XM_017012397.2:c.2913_2918del, XM_017012397.1:c.2913_2918del, XM_011516389.2:c.2784_2789del, XM_011516389.1:c.2784_2789del, XM_017012400.2:c.2784_2789del, XM_017012400.1:c.2784_2789del, XM_047420597.1:c.855_860del, XM_047420575.1:c.2913_2918del, XM_047420584.1:c.2850_2855del, XM_047420573.1:c.2913_2918del, XM_047420574.1:c.2913_2918del, XM_047420588.1:c.2784_2789del, XM_047420581.1:c.2784_2789del, XM_047420577.1:c.2850_2855del, XM_047420579.1:c.2784_2789del, XM_047420580.1:c.2784_2789del, XM_047420590.1:c.2784_2789del, XM_047420585.1:c.2850_2855del, XM_047420587.1:c.2784_2789del, XM_047420589.1:c.2784_2789del, XM_047420595.1:c.1317_1322del, XM_047420596.1:c.888_893del, XM_047420600.1:c.888_893del, NP_001159632.1:p.Met950_His951del, NP_001159634.1:p.Met928_His929del, XP_016867885.1:p.Met928_His929del, XP_011514683.1:p.Met971_His972del, XP_016867884.1:p.Met971_His972del, XP_016867886.1:p.Met971_His972del, XP_011514691.1:p.Met928_His929del, XP_016867889.1:p.Met928_His929del, XP_047276553.1:p.Met285_His286del, XP_047276531.1:p.Met971_His972del, XP_047276540.1:p.Met950_His951del, XP_047276529.1:p.Met971_His972del, XP_047276530.1:p.Met971_His972del, XP_047276544.1:p.Met928_His929del, XP_047276537.1:p.Met928_His929del, XP_047276533.1:p.Met950_His951del, XP_047276535.1:p.Met928_His929del, XP_047276536.1:p.Met928_His929del, XP_047276546.1:p.Met928_His929del, XP_047276541.1:p.Met950_His951del, XP_047276543.1:p.Met928_His929del, XP_047276545.1:p.Met928_His929del, XP_047276551.1:p.Met439_His440del, XP_047276552.1:p.Met296_His297del, XP_047276556.1:p.Met296_His297del

                                    18.

                                    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

                                      19.

                                      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

                                        20.

                                        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

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