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Items: 1 to 20 of 525

1.

rs1489056867 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:111755443 (GRCh38)
    11:111626167 (GRCh37)
    Canonical SPDI:
    NC_000011.10:111755442:A:G
    Gene:
    PPP2R1B (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000011.10:g.111755443A>G, NC_000011.9:g.111626167A>G, NG_012117.2:g.16003T>C, NM_002716.5:c.695T>C, NM_002716.4:c.695T>C, NM_181699.3:c.695T>C, NM_181699.2:c.695T>C, NM_001177562.2:c.695T>C, NM_001177562.1:c.695T>C, NM_001177563.2:c.314T>C, NM_001177563.1:c.314T>C, NM_181700.2:c.503T>C, NM_181700.1:c.503T>C, NW_003871080.1:g.7435A>G, XM_024448600.2:c.695T>C, XM_024448600.1:c.695T>C, XM_017017960.2:c.695T>C, XM_017017960.1:c.695T>C, XM_047427189.1:c.695T>C, XM_047427190.1:c.695T>C, XM_047427191.1:c.695T>C, XM_047427195.1:c.695T>C, XM_047427194.1:c.695T>C, XM_047427193.1:c.695T>C, XM_047427192.1:c.695T>C, XM_047427196.1:c.695T>C, NP_002707.3:p.Val232Ala, NP_859050.1:p.Val232Ala, NP_001171033.1:p.Val232Ala, NP_001171034.1:p.Val105Ala, NP_859051.1:p.Val168Ala, XP_024304368.1:p.Val232Ala, XP_016873449.1:p.Val232Ala, XP_047283145.1:p.Val232Ala, XP_047283146.1:p.Val232Ala, XP_047283147.1:p.Val232Ala, XP_047283151.1:p.Val232Ala, XP_047283150.1:p.Val232Ala, XP_047283149.1:p.Val232Ala, XP_047283148.1:p.Val232Ala, XP_047283152.1:p.Val232Ala

    2.

    rs1488270276 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:111759886 (GRCh38)
      11:111630610 (GRCh37)
      Canonical SPDI:
      NC_000011.10:111759885:C:T
      Gene:
      PPP2R1B (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      T=0.000004/1 (TOPMED)
      HGVS:
      NC_000011.10:g.111759886C>T, NC_000011.9:g.111630610C>T, NG_012117.2:g.11560G>A, NM_002716.5:c.605G>A, NM_002716.4:c.605G>A, NM_181699.3:c.605G>A, NM_181699.2:c.605G>A, NM_001177562.2:c.605G>A, NM_001177562.1:c.605G>A, NM_181700.2:c.413G>A, NM_181700.1:c.413G>A, NW_003871080.1:g.11878C>T, XM_024448600.2:c.605G>A, XM_024448600.1:c.605G>A, XM_017017960.2:c.605G>A, XM_017017960.1:c.605G>A, XM_047427189.1:c.605G>A, XM_047427190.1:c.605G>A, XM_047427191.1:c.605G>A, XM_047427195.1:c.605G>A, XM_047427194.1:c.605G>A, XM_047427193.1:c.605G>A, XM_047427192.1:c.605G>A, XM_047427196.1:c.605G>A, NP_002707.3:p.Gly202Asp, NP_859050.1:p.Gly202Asp, NP_001171033.1:p.Gly202Asp, NP_859051.1:p.Gly138Asp, XP_024304368.1:p.Gly202Asp, XP_016873449.1:p.Gly202Asp, XP_047283145.1:p.Gly202Asp, XP_047283146.1:p.Gly202Asp, XP_047283147.1:p.Gly202Asp, XP_047283151.1:p.Gly202Asp, XP_047283150.1:p.Gly202Asp, XP_047283149.1:p.Gly202Asp, XP_047283148.1:p.Gly202Asp, XP_047283152.1:p.Gly202Asp

      3.

      rs1486384692 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        11:111742646 (GRCh38)
        11:111613370 (GRCh37)
        Canonical SPDI:
        NC_000011.10:111742645:C:G
        Gene:
        PPP2R1B (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        HGVS:
        NC_000011.10:g.111742646C>G, NC_000011.9:g.111613370C>G, NG_012117.2:g.28800G>C, NM_002716.5:c.1574G>C, NM_002716.4:c.1574G>C, NM_181699.3:c.1574G>C, NM_181699.2:c.1574G>C, NM_001177562.2:c.1439G>C, NM_001177562.1:c.1439G>C, NM_001177563.2:c.1193G>C, NM_001177563.1:c.1193G>C, NM_181700.2:c.1382G>C, NM_181700.1:c.1382G>C, XM_024448600.2:c.1439G>C, XM_024448600.1:c.1439G>C, XM_017017960.2:c.1439G>C, XM_017017960.1:c.1439G>C, XM_047427189.1:c.1574G>C, XM_047427190.1:c.1574G>C, XM_047427191.1:c.1574G>C, XM_047427195.1:c.1574G>C, XM_047427194.1:c.1574G>C, XM_047427193.1:c.1574G>C, XM_047427192.1:c.1574G>C, XM_047427196.1:c.1574G>C, NP_002707.3:p.Gly525Ala, NP_859050.1:p.Gly525Ala, NP_001171033.1:p.Gly480Ala, NP_001171034.1:p.Gly398Ala, NP_859051.1:p.Gly461Ala, XP_024304368.1:p.Gly480Ala, XP_016873449.1:p.Gly480Ala, XP_047283145.1:p.Gly525Ala, XP_047283146.1:p.Gly525Ala, XP_047283147.1:p.Gly525Ala, XP_047283151.1:p.Gly525Ala, XP_047283150.1:p.Gly525Ala, XP_047283149.1:p.Gly525Ala, XP_047283148.1:p.Gly525Ala, XP_047283152.1:p.Gly525Ala

        4.

        rs1483619792 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:111737511 (GRCh38)
          11:111608235 (GRCh37)
          Canonical SPDI:
          NC_000011.10:111737510:A:G
          Gene:
          PPP2R1B (Varview)
          Functional Consequence:
          downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          G=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1482573187 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            11:111742633 (GRCh38)
            11:111613357 (GRCh37)
            Canonical SPDI:
            NC_000011.10:111742632:A:G,NC_000011.10:111742632:A:T
            Gene:
            PPP2R1B (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.111742633A>G, NC_000011.10:g.111742633A>T, NC_000011.9:g.111613357A>G, NC_000011.9:g.111613357A>T, NG_012117.2:g.28813T>C, NG_012117.2:g.28813T>A, NM_002716.5:c.1587T>C, NM_002716.5:c.1587T>A, NM_002716.4:c.1587T>C, NM_002716.4:c.1587T>A, NM_181699.3:c.1587T>C, NM_181699.3:c.1587T>A, NM_181699.2:c.1587T>C, NM_181699.2:c.1587T>A, NM_001177562.2:c.1452T>C, NM_001177562.2:c.1452T>A, NM_001177562.1:c.1452T>C, NM_001177562.1:c.1452T>A, NM_001177563.2:c.1206T>C, NM_001177563.2:c.1206T>A, NM_001177563.1:c.1206T>C, NM_001177563.1:c.1206T>A, NM_181700.2:c.1395T>C, NM_181700.2:c.1395T>A, NM_181700.1:c.1395T>C, NM_181700.1:c.1395T>A, XM_024448600.2:c.1452T>C, XM_024448600.2:c.1452T>A, XM_024448600.1:c.1452T>C, XM_024448600.1:c.1452T>A, XM_017017960.2:c.1452T>C, XM_017017960.2:c.1452T>A, XM_017017960.1:c.1452T>C, XM_017017960.1:c.1452T>A, XM_047427189.1:c.1587T>C, XM_047427189.1:c.1587T>A, XM_047427190.1:c.1587T>C, XM_047427190.1:c.1587T>A, XM_047427191.1:c.1587T>C, XM_047427191.1:c.1587T>A, XM_047427195.1:c.1587T>C, XM_047427195.1:c.1587T>A, XM_047427194.1:c.1587T>C, XM_047427194.1:c.1587T>A, XM_047427193.1:c.1587T>C, XM_047427193.1:c.1587T>A, XM_047427192.1:c.1587T>C, XM_047427192.1:c.1587T>A, XM_047427196.1:c.1587T>C, XM_047427196.1:c.1587T>A

            6.

            rs1478815697 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              11:111737527 (GRCh38)
              11:111608252 (GRCh37)
              Canonical SPDI:
              NC_000011.10:111737527:CC:CCC
              Gene:
              PPP2R1B (Varview)
              Functional Consequence:
              frameshift_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
              Validated:
              by frequency
              MAF:
              C=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000011.10:g.111737529dup, NC_000011.9:g.111608253dup, NG_012117.2:g.33918dup, NM_181699.3:c.1831dup, NM_181699.2:c.1831dup, NM_181700.2:c.1639dup, NM_181700.1:c.1639dup, XM_024448600.2:c.1696dup, XM_024448600.1:c.1696dup, XM_017017960.2:c.1696dup, XM_017017960.1:c.1696dup, XM_047427189.1:c.1831dup, XM_047427190.1:c.1831dup, XM_047427191.1:c.1831dup, XM_047427195.1:c.1831dup, XM_047427194.1:c.1831dup, XM_047427193.1:c.1831dup, XM_047427192.1:c.1831dup, XM_047427196.1:c.1831dup, NP_859050.1:p.Asp611fs, NP_859051.1:p.Asp547fs, XP_024304368.1:p.Asp566fs, XP_016873449.1:p.Asp566fs, XP_047283145.1:p.Asp611fs, XP_047283146.1:p.Asp611fs, XP_047283147.1:p.Asp611fs, XP_047283151.1:p.Asp611fs, XP_047283150.1:p.Asp611fs, XP_047283149.1:p.Asp611fs, XP_047283148.1:p.Asp611fs, XP_047283152.1:p.Asp611fs

              7.

              rs1478765667 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                11:111743421 (GRCh38)
                11:111614145 (GRCh37)
                Canonical SPDI:
                NC_000011.10:111743420:A:G
                Gene:
                PPP2R1B (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:

                8.

                rs1474387772 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  11:111766309 (GRCh38)
                  11:111637033 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:111766308:C:G
                  Gene:
                  PPP2R1B (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000009/1 (GnomAD)
                  G=0.000015/4 (TOPMED)
                  HGVS:
                  NC_000011.10:g.111766309C>G, NC_000011.9:g.111637033C>G, NG_009210.2:g.110272G>C, NG_012117.2:g.5137G>C, NM_002716.5:c.53G>C, NM_002716.4:c.53G>C, NM_181699.3:c.53G>C, NM_181699.2:c.53G>C, NM_001177562.2:c.53G>C, NM_001177562.1:c.53G>C, NM_001177563.2:c.53G>C, NM_001177563.1:c.53G>C, NM_181700.2:c.53G>C, NM_181700.1:c.53G>C, NW_003871080.1:g.18301C>G, XM_024448600.2:c.53G>C, XM_024448600.1:c.53G>C, XM_017017960.2:c.53G>C, XM_017017960.1:c.53G>C, XM_047427189.1:c.53G>C, XM_047427190.1:c.53G>C, XM_047427191.1:c.53G>C, XM_047427195.1:c.53G>C, XM_047427194.1:c.53G>C, XM_047427193.1:c.53G>C, XM_047427192.1:c.53G>C, XM_047427196.1:c.53G>C, NP_002707.3:p.Gly18Ala, NP_859050.1:p.Gly18Ala, NP_001171033.1:p.Gly18Ala, NP_001171034.1:p.Gly18Ala, NP_859051.1:p.Gly18Ala, XP_024304368.1:p.Gly18Ala, XP_016873449.1:p.Gly18Ala, XP_047283145.1:p.Gly18Ala, XP_047283146.1:p.Gly18Ala, XP_047283147.1:p.Gly18Ala, XP_047283151.1:p.Gly18Ala, XP_047283150.1:p.Gly18Ala, XP_047283149.1:p.Gly18Ala, XP_047283148.1:p.Gly18Ala, XP_047283152.1:p.Gly18Ala

                  9.

                  rs1471699514 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:111755311 (GRCh38)
                    11:111626035 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:111755310:G:A
                    Gene:
                    PPP2R1B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000011.10:g.111755311G>A, NC_000011.9:g.111626035G>A, NG_012117.2:g.16135C>T, NM_002716.5:c.827C>T, NM_002716.4:c.827C>T, NM_181699.3:c.827C>T, NM_181699.2:c.827C>T, NM_001177562.2:c.827C>T, NM_001177562.1:c.827C>T, NM_001177563.2:c.446C>T, NM_001177563.1:c.446C>T, NM_181700.2:c.635C>T, NM_181700.1:c.635C>T, NW_003871080.1:g.7303G>A, XM_024448600.2:c.827C>T, XM_024448600.1:c.827C>T, XM_017017960.2:c.827C>T, XM_017017960.1:c.827C>T, XM_047427189.1:c.827C>T, XM_047427190.1:c.827C>T, XM_047427191.1:c.827C>T, XM_047427195.1:c.827C>T, XM_047427194.1:c.827C>T, XM_047427193.1:c.827C>T, XM_047427192.1:c.827C>T, XM_047427196.1:c.827C>T, NP_002707.3:p.Ala276Val, NP_859050.1:p.Ala276Val, NP_001171033.1:p.Ala276Val, NP_001171034.1:p.Ala149Val, NP_859051.1:p.Ala212Val, XP_024304368.1:p.Ala276Val, XP_016873449.1:p.Ala276Val, XP_047283145.1:p.Ala276Val, XP_047283146.1:p.Ala276Val, XP_047283147.1:p.Ala276Val, XP_047283151.1:p.Ala276Val, XP_047283150.1:p.Ala276Val, XP_047283149.1:p.Ala276Val, XP_047283148.1:p.Ala276Val, XP_047283152.1:p.Ala276Val

                    10.

                    rs1469666803 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      11:111766351 (GRCh38)
                      11:111637075 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:111766350:G:A
                      Gene:
                      PPP2R1B (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000021/1 (GnomAD)
                      HGVS:
                      NC_000011.10:g.111766351G>A, NC_000011.9:g.111637075G>A, NG_009210.2:g.110230C>T, NG_012117.2:g.5095C>T, NM_002716.5:c.11C>T, NM_002716.4:c.11C>T, NM_181699.3:c.11C>T, NM_181699.2:c.11C>T, NM_001177562.2:c.11C>T, NM_001177562.1:c.11C>T, NM_001177563.2:c.11C>T, NM_001177563.1:c.11C>T, NM_181700.2:c.11C>T, NM_181700.1:c.11C>T, NW_003871080.1:g.18343G>A, XM_024448600.2:c.11C>T, XM_024448600.1:c.11C>T, XM_017017960.2:c.11C>T, XM_017017960.1:c.11C>T, XM_047427189.1:c.11C>T, XM_047427190.1:c.11C>T, XM_047427191.1:c.11C>T, XM_047427195.1:c.11C>T, XM_047427194.1:c.11C>T, XM_047427193.1:c.11C>T, XM_047427192.1:c.11C>T, XM_047427196.1:c.11C>T, NP_002707.3:p.Ala4Val, NP_859050.1:p.Ala4Val, NP_001171033.1:p.Ala4Val, NP_001171034.1:p.Ala4Val, NP_859051.1:p.Ala4Val, XP_024304368.1:p.Ala4Val, XP_016873449.1:p.Ala4Val, XP_047283145.1:p.Ala4Val, XP_047283146.1:p.Ala4Val, XP_047283147.1:p.Ala4Val, XP_047283151.1:p.Ala4Val, XP_047283150.1:p.Ala4Val, XP_047283149.1:p.Ala4Val, XP_047283148.1:p.Ala4Val, XP_047283152.1:p.Ala4Val

                      11.

                      rs1468372128 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        11:111742634 (GRCh38)
                        11:111613358 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:111742633:G:A
                        Gene:
                        PPP2R1B (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.111742634G>A, NC_000011.9:g.111613358G>A, NG_012117.2:g.28812C>T, NM_002716.5:c.1586C>T, NM_002716.4:c.1586C>T, NM_181699.3:c.1586C>T, NM_181699.2:c.1586C>T, NM_001177562.2:c.1451C>T, NM_001177562.1:c.1451C>T, NM_001177563.2:c.1205C>T, NM_001177563.1:c.1205C>T, NM_181700.2:c.1394C>T, NM_181700.1:c.1394C>T, XM_024448600.2:c.1451C>T, XM_024448600.1:c.1451C>T, XM_017017960.2:c.1451C>T, XM_017017960.1:c.1451C>T, XM_047427189.1:c.1586C>T, XM_047427190.1:c.1586C>T, XM_047427191.1:c.1586C>T, XM_047427195.1:c.1586C>T, XM_047427194.1:c.1586C>T, XM_047427193.1:c.1586C>T, XM_047427192.1:c.1586C>T, XM_047427196.1:c.1586C>T, NP_002707.3:p.Thr529Ile, NP_859050.1:p.Thr529Ile, NP_001171033.1:p.Thr484Ile, NP_001171034.1:p.Thr402Ile, NP_859051.1:p.Thr465Ile, XP_024304368.1:p.Thr484Ile, XP_016873449.1:p.Thr484Ile, XP_047283145.1:p.Thr529Ile, XP_047283146.1:p.Thr529Ile, XP_047283147.1:p.Thr529Ile, XP_047283151.1:p.Thr529Ile, XP_047283150.1:p.Thr529Ile, XP_047283149.1:p.Thr529Ile, XP_047283148.1:p.Thr529Ile, XP_047283152.1:p.Thr529Ile

                        12.

                        rs1467019999 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>- [Show Flanks]
                          Chromosome:
                          11:111742072 (GRCh38)
                          11:111612796 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:111742071:AAA:AA
                          Gene:
                          PPP2R1B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,frameshift_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          AA=0./0 (ALFA)
                          -=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000011.10:g.111742074del, NC_000011.9:g.111612798del, NG_012117.2:g.29374del, NM_002716.5:c.1770del, NM_002716.4:c.1770del, NM_181699.3:c.1770del, NM_181699.2:c.1770del, NM_001177562.2:c.1635del, NM_001177562.1:c.1635del, NM_001177563.2:c.1389del, NM_001177563.1:c.1389del, NM_181700.2:c.1578del, NM_181700.1:c.1578del, XM_024448600.2:c.1635del, XM_024448600.1:c.1635del, XM_017017960.2:c.1635del, XM_017017960.1:c.1635del, XM_047427189.1:c.1770del, XM_047427190.1:c.1770del, XM_047427191.1:c.1770del, XM_047427195.1:c.1770del, XM_047427194.1:c.1770del, XM_047427193.1:c.1770del, XM_047427192.1:c.1770del, XM_047427196.1:c.1770del, NP_002707.3:p.Phe590fs, NP_859050.1:p.Phe590fs, NP_001171033.1:p.Phe545fs, NP_001171034.1:p.Phe463fs, NP_859051.1:p.Phe526fs, XP_024304368.1:p.Phe545fs, XP_016873449.1:p.Phe545fs, XP_047283145.1:p.Phe590fs, XP_047283146.1:p.Phe590fs, XP_047283147.1:p.Phe590fs, XP_047283151.1:p.Phe590fs, XP_047283150.1:p.Phe590fs, XP_047283149.1:p.Phe590fs, XP_047283148.1:p.Phe590fs, XP_047283152.1:p.Phe590fs

                          13.

                          rs1466797229 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>G [Show Flanks]
                            Chromosome:
                            11:111754522 (GRCh38)
                            11:111625246 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:111754521:T:G
                            Gene:
                            PPP2R1B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000042/11 (TOPMED)
                            G=0.000071/10 (GnomAD)
                            HGVS:
                            NC_000011.10:g.111754522T>G, NC_000011.9:g.111625246T>G, NG_012117.2:g.16924A>C, NM_002716.5:c.1006A>C, NM_002716.4:c.1006A>C, NM_181699.3:c.1006A>C, NM_181699.2:c.1006A>C, NM_001177562.2:c.1006A>C, NM_001177562.1:c.1006A>C, NM_001177563.2:c.625A>C, NM_001177563.1:c.625A>C, NM_181700.2:c.814A>C, NM_181700.1:c.814A>C, NW_003871080.1:g.6514T>G, XM_024448600.2:c.1006A>C, XM_024448600.1:c.1006A>C, XM_017017960.2:c.1006A>C, XM_017017960.1:c.1006A>C, XM_047427189.1:c.1006A>C, XM_047427190.1:c.1006A>C, XM_047427191.1:c.1006A>C, XM_047427195.1:c.1006A>C, XM_047427194.1:c.1006A>C, XM_047427193.1:c.1006A>C, XM_047427192.1:c.1006A>C, XM_047427196.1:c.1006A>C, NP_002707.3:p.Asn336His, NP_859050.1:p.Asn336His, NP_001171033.1:p.Asn336His, NP_001171034.1:p.Asn209His, NP_859051.1:p.Asn272His, XP_024304368.1:p.Asn336His, XP_016873449.1:p.Asn336His, XP_047283145.1:p.Asn336His, XP_047283146.1:p.Asn336His, XP_047283147.1:p.Asn336His, XP_047283151.1:p.Asn336His, XP_047283150.1:p.Asn336His, XP_047283149.1:p.Asn336His, XP_047283148.1:p.Asn336His, XP_047283152.1:p.Asn336His

                            14.

                            rs1465181114 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              11:111755082 (GRCh38)
                              11:111625806 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:111755081:T:C
                              Gene:
                              PPP2R1B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.111755082T>C, NC_000011.9:g.111625806T>C, NG_012117.2:g.16364A>G, NM_002716.5:c.856A>G, NM_002716.4:c.856A>G, NM_181699.3:c.856A>G, NM_181699.2:c.856A>G, NM_001177562.2:c.856A>G, NM_001177562.1:c.856A>G, NM_001177563.2:c.475A>G, NM_001177563.1:c.475A>G, NM_181700.2:c.664A>G, NM_181700.1:c.664A>G, NW_003871080.1:g.7074T>C, XM_024448600.2:c.856A>G, XM_024448600.1:c.856A>G, XM_017017960.2:c.856A>G, XM_017017960.1:c.856A>G, XM_047427189.1:c.856A>G, XM_047427190.1:c.856A>G, XM_047427191.1:c.856A>G, XM_047427195.1:c.856A>G, XM_047427194.1:c.856A>G, XM_047427193.1:c.856A>G, XM_047427192.1:c.856A>G, XM_047427196.1:c.856A>G, NP_002707.3:p.Met286Val, NP_859050.1:p.Met286Val, NP_001171033.1:p.Met286Val, NP_001171034.1:p.Met159Val, NP_859051.1:p.Met222Val, XP_024304368.1:p.Met286Val, XP_016873449.1:p.Met286Val, XP_047283145.1:p.Met286Val, XP_047283146.1:p.Met286Val, XP_047283147.1:p.Met286Val, XP_047283151.1:p.Met286Val, XP_047283150.1:p.Met286Val, XP_047283149.1:p.Met286Val, XP_047283148.1:p.Met286Val, XP_047283152.1:p.Met286Val

                              15.

                              rs1464991172 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                11:111748001 (GRCh38)
                                11:111618725 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:111748000:A:C
                                Gene:
                                PPP2R1B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000011.10:g.111748001A>C, NC_000011.9:g.111618725A>C, NG_012117.2:g.23445T>G, NM_002716.5:c.1352T>G, NM_002716.4:c.1352T>G, NM_181699.3:c.1352T>G, NM_181699.2:c.1352T>G, NM_001177562.2:c.1217T>G, NM_001177562.1:c.1217T>G, NM_001177563.2:c.971T>G, NM_001177563.1:c.971T>G, NM_181700.2:c.1160T>G, NM_181700.1:c.1160T>G, XM_024448600.2:c.1217T>G, XM_024448600.1:c.1217T>G, XM_017017960.2:c.1217T>G, XM_017017960.1:c.1217T>G, XM_047427189.1:c.1352T>G, XM_047427190.1:c.1352T>G, XM_047427191.1:c.1352T>G, XM_047427195.1:c.1352T>G, XM_047427194.1:c.1352T>G, XM_047427193.1:c.1352T>G, XM_047427192.1:c.1352T>G, XM_047427196.1:c.1352T>G, NP_002707.3:p.Phe451Cys, NP_859050.1:p.Phe451Cys, NP_001171033.1:p.Phe406Cys, NP_001171034.1:p.Phe324Cys, NP_859051.1:p.Phe387Cys, XP_024304368.1:p.Phe406Cys, XP_016873449.1:p.Phe406Cys, XP_047283145.1:p.Phe451Cys, XP_047283146.1:p.Phe451Cys, XP_047283147.1:p.Phe451Cys, XP_047283151.1:p.Phe451Cys, XP_047283150.1:p.Phe451Cys, XP_047283149.1:p.Phe451Cys, XP_047283148.1:p.Phe451Cys, XP_047283152.1:p.Phe451Cys

                                16.

                                rs1460234034 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:111754550 (GRCh38)
                                  11:111625274 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:111754549:G:A
                                  Gene:
                                  PPP2R1B (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1459101838 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    11:111752277 (GRCh38)
                                    11:111623001 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:111752276:A:G
                                    Gene:
                                    PPP2R1B (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000014/2 (GnomAD)
                                    G=0.000015/4 (TOPMED)
                                    HGVS:
                                    NC_000011.10:g.111752277A>G, NC_000011.9:g.111623001A>G, NG_012117.2:g.19169T>C, NM_002716.5:c.1220T>C, NM_002716.4:c.1220T>C, NM_181699.3:c.1220T>C, NM_181699.2:c.1220T>C, NM_001177562.2:c.1085T>C, NM_001177562.1:c.1085T>C, NM_001177563.2:c.839T>C, NM_001177563.1:c.839T>C, NM_181700.2:c.1028T>C, NM_181700.1:c.1028T>C, NW_003871080.1:g.4269A>G, XM_024448600.2:c.1085T>C, XM_024448600.1:c.1085T>C, XM_017017960.2:c.1085T>C, XM_017017960.1:c.1085T>C, XM_047427189.1:c.1220T>C, XM_047427190.1:c.1220T>C, XM_047427191.1:c.1220T>C, XM_047427195.1:c.1220T>C, XM_047427194.1:c.1220T>C, XM_047427193.1:c.1220T>C, XM_047427192.1:c.1220T>C, XM_047427196.1:c.1220T>C, NP_002707.3:p.Ile407Thr, NP_859050.1:p.Ile407Thr, NP_001171033.1:p.Ile362Thr, NP_001171034.1:p.Ile280Thr, NP_859051.1:p.Ile343Thr, XP_024304368.1:p.Ile362Thr, XP_016873449.1:p.Ile362Thr, XP_047283145.1:p.Ile407Thr, XP_047283146.1:p.Ile407Thr, XP_047283147.1:p.Ile407Thr, XP_047283151.1:p.Ile407Thr, XP_047283150.1:p.Ile407Thr, XP_047283149.1:p.Ile407Thr, XP_047283148.1:p.Ile407Thr, XP_047283152.1:p.Ile407Thr

                                    18.

                                    rs1458480585 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:111766326 (GRCh38)
                                      11:111637050 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:111766325:T:C
                                      Gene:
                                      PPP2R1B (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1457383830 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        11:111742658 (GRCh38)
                                        11:111613382 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:111742657:G:C
                                        Gene:
                                        PPP2R1B (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.111742658G>C, NC_000011.9:g.111613382G>C, NG_012117.2:g.28788C>G, NM_002716.5:c.1562C>G, NM_002716.4:c.1562C>G, NM_181699.3:c.1562C>G, NM_181699.2:c.1562C>G, NM_001177562.2:c.1427C>G, NM_001177562.1:c.1427C>G, NM_001177563.2:c.1181C>G, NM_001177563.1:c.1181C>G, NM_181700.2:c.1370C>G, NM_181700.1:c.1370C>G, XM_024448600.2:c.1427C>G, XM_024448600.1:c.1427C>G, XM_017017960.2:c.1427C>G, XM_017017960.1:c.1427C>G, XM_047427189.1:c.1562C>G, XM_047427190.1:c.1562C>G, XM_047427191.1:c.1562C>G, XM_047427195.1:c.1562C>G, XM_047427194.1:c.1562C>G, XM_047427193.1:c.1562C>G, XM_047427192.1:c.1562C>G, XM_047427196.1:c.1562C>G, NP_002707.3:p.Ser521Cys, NP_859050.1:p.Ser521Cys, NP_001171033.1:p.Ser476Cys, NP_001171034.1:p.Ser394Cys, NP_859051.1:p.Ser457Cys, XP_024304368.1:p.Ser476Cys, XP_016873449.1:p.Ser476Cys, XP_047283145.1:p.Ser521Cys, XP_047283146.1:p.Ser521Cys, XP_047283147.1:p.Ser521Cys, XP_047283151.1:p.Ser521Cys, XP_047283150.1:p.Ser521Cys, XP_047283149.1:p.Ser521Cys, XP_047283148.1:p.Ser521Cys, XP_047283152.1:p.Ser521Cys

                                        20.

                                        rs1457349857 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:111760958 (GRCh38)
                                          11:111631682 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:111760957:C:T
                                          Gene:
                                          PPP2R1B (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000011.10:g.111760958C>T, NC_000011.9:g.111631682C>T, NG_012117.2:g.10488G>A, NM_002716.5:c.400G>A, NM_002716.4:c.400G>A, NM_181699.3:c.400G>A, NM_181699.2:c.400G>A, NM_001177562.2:c.400G>A, NM_001177562.1:c.400G>A, NM_181700.2:c.208G>A, NM_181700.1:c.208G>A, NW_003871080.1:g.12950C>T, XM_024448600.2:c.400G>A, XM_024448600.1:c.400G>A, XM_017017960.2:c.400G>A, XM_017017960.1:c.400G>A, XM_047427189.1:c.400G>A, XM_047427190.1:c.400G>A, XM_047427191.1:c.400G>A, XM_047427195.1:c.400G>A, XM_047427194.1:c.400G>A, XM_047427193.1:c.400G>A, XM_047427192.1:c.400G>A, XM_047427196.1:c.400G>A, NP_002707.3:p.Val134Ile, NP_859050.1:p.Val134Ile, NP_001171033.1:p.Val134Ile, NP_859051.1:p.Val70Ile, XP_024304368.1:p.Val134Ile, XP_016873449.1:p.Val134Ile, XP_047283145.1:p.Val134Ile, XP_047283146.1:p.Val134Ile, XP_047283147.1:p.Val134Ile, XP_047283151.1:p.Val134Ile, XP_047283150.1:p.Val134Ile, XP_047283149.1:p.Val134Ile, XP_047283148.1:p.Val134Ile, XP_047283152.1:p.Val134Ile

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