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Items: 1 to 20 of 394

1.

rs1490791125 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    10:122428278 (GRCh38)
    10:124187794 (GRCh37)
    Canonical SPDI:
    NC_000010.11:122428277:G:A
    Gene:
    PLEKHA1 (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000008/2 (TOPMED)
    A=0.000014/2 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.122428278G>A, NC_000010.10:g.124187794G>A, NG_027823.1:g.58701G>A, NM_001195608.1:c.903G>A, NM_001195608.2:c.903G>A, XM_017016478.3:c.968G>A, XM_017016478.2:c.968G>A, XM_017016478.1:c.968G>A, XM_017016479.3:c.968G>A, XM_017016479.2:c.968G>A, XM_017016479.1:c.968G>A, XM_011540019.2:c.968G>A, XM_011540019.1:c.968G>A, XM_011540024.2:c.968G>A, XM_011540024.1:c.968G>A, XM_024448107.2:c.968G>A, XM_024448107.1:c.968G>A, XM_024448108.2:c.968G>A, XM_024448108.1:c.968G>A, XM_011540018.2:c.968G>A, XM_011540018.1:c.968G>A, XM_024448110.2:c.968G>A, XM_024448110.1:c.968G>A, XM_011540017.2:c.968G>A, XM_011540017.1:c.968G>A, XM_011540022.2:c.968G>A, XM_011540022.1:c.968G>A, XM_017016483.2:c.903G>A, XM_017016483.1:c.903G>A, XM_017016484.2:c.903G>A, XM_017016484.1:c.903G>A, XM_017016487.2:c.903G>A, XM_017016487.1:c.903G>A, XM_024448109.2:c.968G>A, XM_024448109.1:c.968G>A, XM_011540021.2:c.968G>A, XM_011540021.1:c.968G>A, NM_001330178.2:c.903G>A, NM_001330178.1:c.903G>A, NM_001377242.1:c.903G>A, XM_047425602.1:c.968G>A, XM_047425607.1:c.903G>A, NM_001377243.1:c.903G>A, XM_047425608.1:c.903G>A, NM_001377244.1:c.903G>A, XM_047425599.1:c.968G>A, XM_047425610.1:c.903G>A, XM_047425598.1:c.968G>A, XM_047425612.1:c.903G>A, XM_047425600.1:c.968G>A, NM_001377238.1:c.903G>A, XM_047425611.1:c.903G>A, XM_047425613.1:c.903G>A, NR_165160.1:n.1140G>A, NM_001377237.1:c.903G>A, NM_001377246.1:c.903G>A, XM_047425609.1:c.903G>A, NM_001377248.1:c.921G>A, NR_165161.1:n.1088G>A, NM_001377240.1:c.903G>A, NM_001377251.1:c.870G>A, NM_001377245.1:c.903G>A, NM_001377256.1:c.777G>A, NM_001377241.1:c.903G>A, NM_001377250.1:c.894G>A, NM_001377255.1:c.759G>A, NM_001377257.1:c.759G>A, NP_001182537.1:p.Met301Ile, XP_016871967.1:p.Cys323Tyr, XP_016871968.1:p.Cys323Tyr, XP_011538321.1:p.Cys323Tyr, XP_011538326.1:p.Cys323Tyr, XP_024303875.1:p.Cys323Tyr, XP_024303876.1:p.Cys323Tyr, XP_011538320.1:p.Cys323Tyr, XP_024303878.1:p.Cys323Tyr, XP_011538319.1:p.Cys323Tyr, XP_011538324.1:p.Cys323Tyr, XP_016871972.1:p.Met301Ile, XP_016871973.1:p.Met301Ile, XP_016871976.1:p.Met301Ile, XP_024303877.1:p.Cys323Tyr, XP_011538323.1:p.Cys323Tyr, NP_001317107.1:p.Met301Ile, NP_001364171.1:p.Met301Ile, XP_047281558.1:p.Cys323Tyr, XP_047281563.1:p.Met301Ile, NP_001364172.1:p.Met301Ile, XP_047281564.1:p.Met301Ile, NP_001364173.1:p.Met301Ile, XP_047281555.1:p.Cys323Tyr, XP_047281566.1:p.Met301Ile, XP_047281554.1:p.Cys323Tyr, XP_047281568.1:p.Met301Ile, XP_047281556.1:p.Cys323Tyr, NP_001364167.1:p.Met301Ile, XP_047281567.1:p.Met301Ile, XP_047281569.1:p.Met301Ile, NP_001364166.1:p.Met301Ile, NP_001364175.1:p.Met301Ile, XP_047281565.1:p.Met301Ile, NP_001364177.1:p.Met307Ile, NP_001364169.1:p.Met301Ile, NP_001364180.1:p.Met290Ile, NP_001364174.1:p.Met301Ile, NP_001364185.1:p.Met259Ile, NP_001364170.1:p.Met301Ile, NP_001364179.1:p.Met298Ile, NP_001364184.1:p.Met253Ile, NP_001364186.1:p.Met253Ile

    2.

    rs1489980256 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:122429706 (GRCh38)
      10:124189222 (GRCh37)
      Canonical SPDI:
      NC_000010.11:122429705:C:T
      Gene:
      PLEKHA1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000010.11:g.122429706C>T, NC_000010.10:g.124189222C>T, NG_027823.1:g.60129C>T, NM_021622.4:c.983C>T, NM_021622.5:c.983C>T, NM_001001974.2:c.983C>T, NM_001001974.4:c.983C>T, NM_001001974.3:c.983C>T, NM_001195608.1:c.*123C>T, NM_001195608.2:c.*123C>T, XM_017016478.3:c.1119C>T, XM_017016478.2:c.1119C>T, XM_017016478.1:c.1119C>T, XM_017016479.3:c.1089C>T, XM_017016479.2:c.1089C>T, XM_017016479.1:c.1089C>T, XM_024448113.2:c.983C>T, XM_024448113.1:c.983C>T, XM_011540019.2:c.1119C>T, XM_011540019.1:c.1119C>T, XM_011540024.2:c.1119C>T, XM_011540024.1:c.1119C>T, XM_024448107.2:c.1119C>T, XM_024448107.1:c.1119C>T, XM_024448108.2:c.1119C>T, XM_024448108.1:c.1119C>T, XM_011540018.2:c.1119C>T, XM_011540018.1:c.1119C>T, XM_024448110.2:c.1119C>T, XM_024448110.1:c.1119C>T, XM_011540017.2:c.1119C>T, XM_011540017.1:c.1119C>T, XM_011540022.2:c.1119C>T, XM_011540022.1:c.1119C>T, XM_017016483.2:c.1054C>T, XM_017016483.1:c.1054C>T, XM_017016484.2:c.1054C>T, XM_017016484.1:c.1054C>T, XM_017016487.2:c.1024C>T, XM_017016487.1:c.1024C>T, XM_024448114.2:c.983C>T, XM_024448114.1:c.983C>T, XM_024448109.2:c.1119C>T, XM_024448109.1:c.1119C>T, XM_017016482.2:c.983C>T, XM_017016482.1:c.983C>T, XM_011540021.2:c.1119C>T, XM_011540021.1:c.1119C>T, NM_001330178.2:c.1024C>T, NM_001330178.1:c.1024C>T, NM_001377231.1:c.983C>T, NM_001377242.1:c.1024C>T, XM_047425602.1:c.1119C>T, XM_047425603.1:c.983C>T, XM_047425607.1:c.1054C>T, XM_047425604.1:c.983C>T, NM_001377243.1:c.1024C>T, XM_047425608.1:c.1054C>T, NM_001377232.1:c.983C>T, NM_001377234.1:c.983C>T, NM_001377244.1:c.1024C>T, XM_047425599.1:c.1119C>T, XM_047425610.1:c.1054C>T, XM_047425598.1:c.1119C>T, XM_047425612.1:c.1024C>T, XM_047425600.1:c.1119C>T, NM_001377235.1:c.983C>T, NM_001377238.1:c.*123C>T, XM_047425611.1:c.1054C>T, XM_047425613.1:c.1024C>T, NR_165160.1:n.1261C>T, NM_001377254.1:c.839C>T, NM_001377237.1:c.*123C>T, NM_001377246.1:c.1054C>T, XM_047425609.1:c.1054C>T, NM_001377248.1:c.1042C>T, XM_047425606.1:c.983C>T, NR_165165.1:n.1220C>T, XM_047425605.1:c.983C>T, NR_165161.1:n.1209C>T, NM_001377240.1:c.1024C>T, NM_001377251.1:c.991C>T, NM_001377245.1:c.1054C>T, NM_001377230.1:c.983C>T, NM_001377249.1:c.923C>T, NM_001377256.1:c.898C>T, NM_001377241.1:c.1024C>T, NM_001377247.1:c.950C>T, NM_001377250.1:c.1015C>T, NR_165164.1:n.1126C>T, NM_001377255.1:c.910C>T, NR_165162.1:n.1074C>T, NM_001377257.1:c.880C>T, NM_001377258.1:c.*115C>T, NM_001377253.1:c.839C>T, NM_001377252.1:c.839C>T, NP_067635.2:p.Ser328Phe, NP_001001974.1:p.Ser328Phe, XP_024303881.1:p.Ser328Phe, XP_016871972.1:p.Leu352Phe, XP_016871973.1:p.Leu352Phe, XP_016871976.1:p.Leu342Phe, XP_024303882.1:p.Ser328Phe, XP_016871971.1:p.Ser328Phe, NP_001317107.1:p.Leu342Phe, NP_001364160.1:p.Ser328Phe, NP_001364171.1:p.Leu342Phe, XP_047281559.1:p.Ser328Phe, XP_047281563.1:p.Leu352Phe, XP_047281560.1:p.Ser328Phe, NP_001364172.1:p.Leu342Phe, XP_047281564.1:p.Leu352Phe, NP_001364161.1:p.Ser328Phe, NP_001364163.1:p.Ser328Phe, NP_001364173.1:p.Leu342Phe, XP_047281566.1:p.Leu352Phe, XP_047281568.1:p.Leu342Phe, NP_001364164.1:p.Ser328Phe, XP_047281567.1:p.Leu352Phe, XP_047281569.1:p.Leu342Phe, NP_001364183.1:p.Ser280Phe, NP_001364175.1:p.Leu352Phe, XP_047281565.1:p.Leu352Phe, NP_001364177.1:p.Leu348Phe, XP_047281562.1:p.Ser328Phe, XP_047281561.1:p.Ser328Phe, NP_001364169.1:p.Leu342Phe, NP_001364180.1:p.Leu331Phe, NP_001364174.1:p.Leu352Phe, NP_001364159.1:p.Ser328Phe, NP_001364178.1:p.Ser308Phe, NP_001364185.1:p.Leu300Phe, NP_001364170.1:p.Leu342Phe, NP_001364176.1:p.Ser317Phe, NP_001364179.1:p.Leu339Phe, NP_001364184.1:p.Leu304Phe, NP_001364186.1:p.Leu294Phe, NP_001364182.1:p.Ser280Phe, NP_001364181.1:p.Ser280Phe

      3.

      rs1487097459 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        10:122428111 (GRCh38)
        10:124187627 (GRCh37)
        Canonical SPDI:
        NC_000010.11:122428110:A:G
        Gene:
        PLEKHA1 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000010.11:g.122428111A>G, NC_000010.10:g.124187627A>G, NG_027823.1:g.58534A>G, XM_017016478.3:c.930A>G, XM_017016478.2:c.930A>G, XM_017016478.1:c.930A>G, XM_017016479.3:c.930A>G, XM_017016479.2:c.930A>G, XM_017016479.1:c.930A>G, XM_011540019.2:c.930A>G, XM_011540019.1:c.930A>G, XM_011540024.2:c.930A>G, XM_011540024.1:c.930A>G, XM_024448107.2:c.930A>G, XM_024448107.1:c.930A>G, XM_024448108.2:c.930A>G, XM_024448108.1:c.930A>G, XM_011540018.2:c.930A>G, XM_011540018.1:c.930A>G, XM_024448110.2:c.930A>G, XM_024448110.1:c.930A>G, XM_011540017.2:c.930A>G, XM_011540017.1:c.930A>G, XM_011540022.2:c.930A>G, XM_011540022.1:c.930A>G, XM_024448109.2:c.930A>G, XM_024448109.1:c.930A>G, XM_011540021.2:c.930A>G, XM_011540021.1:c.930A>G, XM_047425602.1:c.930A>G, XM_047425599.1:c.930A>G, XM_047425598.1:c.930A>G, XM_047425600.1:c.930A>G

        4.

        rs1486886787 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          10:122397964 (GRCh38)
          10:124157480 (GRCh37)
          Canonical SPDI:
          NC_000010.11:122397963:A:G
          Gene:
          PLEKHA1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          G=0.000008/2 (TOPMED)
          G=0.000021/3 (GnomAD)
          HGVS:
          NC_000010.11:g.122397964A>G, NC_000010.10:g.124157480A>G, NG_027823.1:g.28387A>G, NM_021622.4:c.188A>G, NM_021622.5:c.188A>G, NM_001001974.2:c.188A>G, NM_001001974.4:c.188A>G, NM_001001974.3:c.188A>G, NM_001195608.1:c.188A>G, NM_001195608.2:c.188A>G, XM_017016478.3:c.188A>G, XM_017016478.2:c.188A>G, XM_017016478.1:c.188A>G, XM_017016479.3:c.188A>G, XM_017016479.2:c.188A>G, XM_017016479.1:c.188A>G, XM_024448113.2:c.188A>G, XM_024448113.1:c.188A>G, XM_011540019.2:c.188A>G, XM_011540019.1:c.188A>G, XM_011540024.2:c.188A>G, XM_011540024.1:c.188A>G, XM_024448107.2:c.188A>G, XM_024448107.1:c.188A>G, XM_024448108.2:c.188A>G, XM_024448108.1:c.188A>G, XM_011540018.2:c.188A>G, XM_011540018.1:c.188A>G, XM_024448110.2:c.188A>G, XM_024448110.1:c.188A>G, XM_011540017.2:c.188A>G, XM_011540017.1:c.188A>G, XM_011540022.2:c.188A>G, XM_011540022.1:c.188A>G, XM_017016483.2:c.188A>G, XM_017016483.1:c.188A>G, XM_017016484.2:c.188A>G, XM_017016484.1:c.188A>G, XM_017016487.2:c.188A>G, XM_017016487.1:c.188A>G, XM_024448114.2:c.188A>G, XM_024448114.1:c.188A>G, XM_024448109.2:c.188A>G, XM_024448109.1:c.188A>G, XM_017016482.2:c.188A>G, XM_017016482.1:c.188A>G, XM_011540021.2:c.188A>G, XM_011540021.1:c.188A>G, NM_001330178.2:c.188A>G, NM_001330178.1:c.188A>G, NM_001377231.1:c.188A>G, NM_001377242.1:c.188A>G, XM_047425602.1:c.188A>G, XM_047425603.1:c.188A>G, XM_047425607.1:c.188A>G, XM_047425604.1:c.188A>G, NM_001377243.1:c.188A>G, XM_047425608.1:c.188A>G, NM_001377232.1:c.188A>G, NM_001377234.1:c.188A>G, NM_001377244.1:c.188A>G, XM_047425599.1:c.188A>G, XM_047425610.1:c.188A>G, XM_047425598.1:c.188A>G, XM_047425612.1:c.188A>G, XM_047425600.1:c.188A>G, NM_001377235.1:c.188A>G, NM_001377238.1:c.188A>G, XM_047425611.1:c.188A>G, XM_047425613.1:c.188A>G, NR_165160.1:n.307A>G, NM_001377254.1:c.188A>G, NM_001377237.1:c.188A>G, NM_001377246.1:c.188A>G, XM_047425609.1:c.188A>G, NM_001377248.1:c.188A>G, XM_047425606.1:c.188A>G, NR_165165.1:n.307A>G, XM_047425605.1:c.188A>G, NR_165161.1:n.377A>G, NM_001377240.1:c.188A>G, NM_001377251.1:c.188A>G, NM_001377245.1:c.188A>G, NM_001377230.1:c.188A>G, NM_001377249.1:c.133A>G, NM_001377256.1:c.62A>G, NM_001377241.1:c.188A>G, NM_001377247.1:c.188A>G, NM_001377250.1:c.188A>G, NR_165164.1:n.377A>G, NM_001377255.1:c.188A>G, NR_165162.1:n.377A>G, NM_001377257.1:c.188A>G, NM_001377258.1:c.188A>G, NM_001377253.1:c.188A>G, NM_001377252.1:c.188A>G, NP_067635.2:p.Tyr63Cys, NP_001001974.1:p.Tyr63Cys, NP_001182537.1:p.Tyr63Cys, XP_016871967.1:p.Tyr63Cys, XP_016871968.1:p.Tyr63Cys, XP_024303881.1:p.Tyr63Cys, XP_011538321.1:p.Tyr63Cys, XP_011538326.1:p.Tyr63Cys, XP_024303875.1:p.Tyr63Cys, XP_024303876.1:p.Tyr63Cys, XP_011538320.1:p.Tyr63Cys, XP_024303878.1:p.Tyr63Cys, XP_011538319.1:p.Tyr63Cys, XP_011538324.1:p.Tyr63Cys, XP_016871972.1:p.Tyr63Cys, XP_016871973.1:p.Tyr63Cys, XP_016871976.1:p.Tyr63Cys, XP_024303882.1:p.Tyr63Cys, XP_024303877.1:p.Tyr63Cys, XP_016871971.1:p.Tyr63Cys, XP_011538323.1:p.Tyr63Cys, NP_001317107.1:p.Tyr63Cys, NP_001364160.1:p.Tyr63Cys, NP_001364171.1:p.Tyr63Cys, XP_047281558.1:p.Tyr63Cys, XP_047281559.1:p.Tyr63Cys, XP_047281563.1:p.Tyr63Cys, XP_047281560.1:p.Tyr63Cys, NP_001364172.1:p.Tyr63Cys, XP_047281564.1:p.Tyr63Cys, NP_001364161.1:p.Tyr63Cys, NP_001364163.1:p.Tyr63Cys, NP_001364173.1:p.Tyr63Cys, XP_047281555.1:p.Tyr63Cys, XP_047281566.1:p.Tyr63Cys, XP_047281554.1:p.Tyr63Cys, XP_047281568.1:p.Tyr63Cys, XP_047281556.1:p.Tyr63Cys, NP_001364164.1:p.Tyr63Cys, NP_001364167.1:p.Tyr63Cys, XP_047281567.1:p.Tyr63Cys, XP_047281569.1:p.Tyr63Cys, NP_001364183.1:p.Tyr63Cys, NP_001364166.1:p.Tyr63Cys, NP_001364175.1:p.Tyr63Cys, XP_047281565.1:p.Tyr63Cys, NP_001364177.1:p.Tyr63Cys, XP_047281562.1:p.Tyr63Cys, XP_047281561.1:p.Tyr63Cys, NP_001364169.1:p.Tyr63Cys, NP_001364180.1:p.Tyr63Cys, NP_001364174.1:p.Tyr63Cys, NP_001364159.1:p.Tyr63Cys, NP_001364178.1:p.Thr45Ala, NP_001364185.1:p.Tyr21Cys, NP_001364170.1:p.Tyr63Cys, NP_001364176.1:p.Tyr63Cys, NP_001364179.1:p.Tyr63Cys, NP_001364184.1:p.Tyr63Cys, NP_001364186.1:p.Tyr63Cys, NP_001364187.1:p.Tyr63Cys, NP_001364182.1:p.Tyr63Cys, NP_001364181.1:p.Tyr63Cys

          5.

          rs1485571086 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            10:122417950 (GRCh38)
            10:124177466 (GRCh37)
            Canonical SPDI:
            NC_000010.11:122417949:C:T
            Gene:
            PLEKHA1 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0.000084/1 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000010.11:g.122417950C>T, NC_000010.10:g.124177466C>T, NG_027823.1:g.48373C>T, NM_021622.4:c.663C>T, NM_021622.5:c.663C>T, NM_001001974.2:c.663C>T, NM_001001974.4:c.663C>T, NM_001001974.3:c.663C>T, NM_001195608.1:c.663C>T, NM_001195608.2:c.663C>T, XM_017016478.3:c.663C>T, XM_017016478.2:c.663C>T, XM_017016478.1:c.663C>T, XM_017016479.3:c.663C>T, XM_017016479.2:c.663C>T, XM_017016479.1:c.663C>T, XM_024448113.2:c.663C>T, XM_024448113.1:c.663C>T, XM_011540019.2:c.663C>T, XM_011540019.1:c.663C>T, XM_011540024.2:c.663C>T, XM_011540024.1:c.663C>T, XM_024448107.2:c.663C>T, XM_024448107.1:c.663C>T, XM_024448108.2:c.663C>T, XM_024448108.1:c.663C>T, XM_011540018.2:c.663C>T, XM_011540018.1:c.663C>T, XM_024448110.2:c.663C>T, XM_024448110.1:c.663C>T, XM_011540017.2:c.663C>T, XM_011540017.1:c.663C>T, XM_011540022.2:c.663C>T, XM_011540022.1:c.663C>T, XM_017016483.2:c.663C>T, XM_017016483.1:c.663C>T, XM_017016484.2:c.663C>T, XM_017016484.1:c.663C>T, XM_017016487.2:c.663C>T, XM_017016487.1:c.663C>T, XM_024448114.2:c.663C>T, XM_024448114.1:c.663C>T, XM_024448109.2:c.663C>T, XM_024448109.1:c.663C>T, XM_017016482.2:c.663C>T, XM_017016482.1:c.663C>T, XM_011540021.2:c.663C>T, XM_011540021.1:c.663C>T, NM_001330178.2:c.663C>T, NM_001330178.1:c.663C>T, NM_001377231.1:c.663C>T, NM_001377242.1:c.663C>T, XM_047425602.1:c.663C>T, XM_047425603.1:c.663C>T, XM_047425607.1:c.663C>T, XM_047425604.1:c.663C>T, NM_001377243.1:c.663C>T, XM_047425608.1:c.663C>T, NM_001377232.1:c.663C>T, NM_001377234.1:c.663C>T, NM_001377244.1:c.663C>T, XM_047425599.1:c.663C>T, XM_047425610.1:c.663C>T, XM_047425598.1:c.663C>T, XM_047425612.1:c.663C>T, XM_047425600.1:c.663C>T, NM_001377235.1:c.663C>T, NM_001377238.1:c.663C>T, XM_047425611.1:c.663C>T, XM_047425613.1:c.663C>T, NR_165160.1:n.900C>T, NM_001377254.1:c.519C>T, NM_001377237.1:c.663C>T, NM_001377246.1:c.663C>T, XM_047425609.1:c.663C>T, NM_001377248.1:c.663C>T, XM_047425606.1:c.663C>T, NR_165165.1:n.900C>T, XM_047425605.1:c.663C>T, NR_165161.1:n.848C>T, NM_001377240.1:c.663C>T, NM_001377251.1:c.630C>T, NM_001377245.1:c.663C>T, NM_001377230.1:c.663C>T, NM_001377249.1:c.603C>T, NM_001377256.1:c.537C>T, NM_001377241.1:c.663C>T, NM_001377247.1:c.630C>T, NM_001377250.1:c.654C>T, NR_165164.1:n.806C>T, NM_001377255.1:c.519C>T, NR_165162.1:n.754C>T, NM_001377257.1:c.519C>T, NM_001377258.1:c.663C>T, NM_001377253.1:c.519C>T, NM_001377252.1:c.519C>T

            6.

            rs1485248173 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              10:122406624 (GRCh38)
              10:124166140 (GRCh37)
              Canonical SPDI:
              NC_000010.11:122406623:A:G
              Gene:
              PLEKHA1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              G=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000010.11:g.122406624A>G, NC_000010.10:g.124166140A>G, NG_027823.1:g.37047A>G, NM_021622.4:c.293A>G, NM_021622.5:c.293A>G, NM_001001974.2:c.293A>G, NM_001001974.4:c.293A>G, NM_001001974.3:c.293A>G, NM_001195608.1:c.293A>G, NM_001195608.2:c.293A>G, XM_017016478.3:c.293A>G, XM_017016478.2:c.293A>G, XM_017016478.1:c.293A>G, XM_017016479.3:c.293A>G, XM_017016479.2:c.293A>G, XM_017016479.1:c.293A>G, XM_024448113.2:c.293A>G, XM_024448113.1:c.293A>G, XM_011540019.2:c.293A>G, XM_011540019.1:c.293A>G, XM_011540024.2:c.293A>G, XM_011540024.1:c.293A>G, XM_024448107.2:c.293A>G, XM_024448107.1:c.293A>G, XM_024448108.2:c.293A>G, XM_024448108.1:c.293A>G, XM_011540018.2:c.293A>G, XM_011540018.1:c.293A>G, XM_024448110.2:c.293A>G, XM_024448110.1:c.293A>G, XM_011540017.2:c.293A>G, XM_011540017.1:c.293A>G, XM_011540022.2:c.293A>G, XM_011540022.1:c.293A>G, XM_017016483.2:c.293A>G, XM_017016483.1:c.293A>G, XM_017016484.2:c.293A>G, XM_017016484.1:c.293A>G, XM_017016487.2:c.293A>G, XM_017016487.1:c.293A>G, XM_024448114.2:c.293A>G, XM_024448114.1:c.293A>G, XM_024448109.2:c.293A>G, XM_024448109.1:c.293A>G, XM_017016482.2:c.293A>G, XM_017016482.1:c.293A>G, XM_011540021.2:c.293A>G, XM_011540021.1:c.293A>G, NM_001330178.2:c.293A>G, NM_001330178.1:c.293A>G, NM_001377231.1:c.293A>G, NM_001377242.1:c.293A>G, XM_047425602.1:c.293A>G, XM_047425603.1:c.293A>G, XM_047425607.1:c.293A>G, XM_047425604.1:c.293A>G, NM_001377243.1:c.293A>G, XM_047425608.1:c.293A>G, NM_001377232.1:c.293A>G, NM_001377234.1:c.293A>G, NM_001377244.1:c.293A>G, XM_047425599.1:c.293A>G, XM_047425610.1:c.293A>G, XM_047425598.1:c.293A>G, XM_047425612.1:c.293A>G, XM_047425600.1:c.293A>G, NM_001377235.1:c.293A>G, NM_001377238.1:c.293A>G, XM_047425611.1:c.293A>G, XM_047425613.1:c.293A>G, NR_165160.1:n.530A>G, NM_001377237.1:c.293A>G, NM_001377246.1:c.293A>G, XM_047425609.1:c.293A>G, NM_001377248.1:c.293A>G, XM_047425606.1:c.293A>G, NR_165165.1:n.530A>G, XM_047425605.1:c.293A>G, NR_165161.1:n.482A>G, NM_001377240.1:c.293A>G, NM_001377251.1:c.293A>G, NM_001377245.1:c.293A>G, NM_001377230.1:c.293A>G, NM_001377249.1:c.233A>G, NM_001377256.1:c.167A>G, NM_001377241.1:c.293A>G, NM_001377247.1:c.293A>G, NM_001377250.1:c.293A>G, NR_165164.1:n.436A>G, NM_001377258.1:c.293A>G, NP_067635.2:p.Gln98Arg, NP_001001974.1:p.Gln98Arg, NP_001182537.1:p.Gln98Arg, XP_016871967.1:p.Gln98Arg, XP_016871968.1:p.Gln98Arg, XP_024303881.1:p.Gln98Arg, XP_011538321.1:p.Gln98Arg, XP_011538326.1:p.Gln98Arg, XP_024303875.1:p.Gln98Arg, XP_024303876.1:p.Gln98Arg, XP_011538320.1:p.Gln98Arg, XP_024303878.1:p.Gln98Arg, XP_011538319.1:p.Gln98Arg, XP_011538324.1:p.Gln98Arg, XP_016871972.1:p.Gln98Arg, XP_016871973.1:p.Gln98Arg, XP_016871976.1:p.Gln98Arg, XP_024303882.1:p.Gln98Arg, XP_024303877.1:p.Gln98Arg, XP_016871971.1:p.Gln98Arg, XP_011538323.1:p.Gln98Arg, NP_001317107.1:p.Gln98Arg, NP_001364160.1:p.Gln98Arg, NP_001364171.1:p.Gln98Arg, XP_047281558.1:p.Gln98Arg, XP_047281559.1:p.Gln98Arg, XP_047281563.1:p.Gln98Arg, XP_047281560.1:p.Gln98Arg, NP_001364172.1:p.Gln98Arg, XP_047281564.1:p.Gln98Arg, NP_001364161.1:p.Gln98Arg, NP_001364163.1:p.Gln98Arg, NP_001364173.1:p.Gln98Arg, XP_047281555.1:p.Gln98Arg, XP_047281566.1:p.Gln98Arg, XP_047281554.1:p.Gln98Arg, XP_047281568.1:p.Gln98Arg, XP_047281556.1:p.Gln98Arg, NP_001364164.1:p.Gln98Arg, NP_001364167.1:p.Gln98Arg, XP_047281567.1:p.Gln98Arg, XP_047281569.1:p.Gln98Arg, NP_001364166.1:p.Gln98Arg, NP_001364175.1:p.Gln98Arg, XP_047281565.1:p.Gln98Arg, NP_001364177.1:p.Gln98Arg, XP_047281562.1:p.Gln98Arg, XP_047281561.1:p.Gln98Arg, NP_001364169.1:p.Gln98Arg, NP_001364180.1:p.Gln98Arg, NP_001364174.1:p.Gln98Arg, NP_001364159.1:p.Gln98Arg, NP_001364178.1:p.Gln78Arg, NP_001364185.1:p.Gln56Arg, NP_001364170.1:p.Gln98Arg, NP_001364176.1:p.Gln98Arg, NP_001364179.1:p.Gln98Arg, NP_001364187.1:p.Gln98Arg

              7.

              rs1483084545 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                10:122406649 (GRCh38)
                10:124166165 (GRCh37)
                Canonical SPDI:
                NC_000010.11:122406648:G:A
                Gene:
                PLEKHA1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000008/2 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000010.11:g.122406649G>A, NC_000010.10:g.124166165G>A, NG_027823.1:g.37072G>A, NM_021622.4:c.318G>A, NM_021622.5:c.318G>A, NM_001001974.2:c.318G>A, NM_001001974.4:c.318G>A, NM_001001974.3:c.318G>A, NM_001195608.1:c.318G>A, NM_001195608.2:c.318G>A, XM_017016478.3:c.318G>A, XM_017016478.2:c.318G>A, XM_017016478.1:c.318G>A, XM_017016479.3:c.318G>A, XM_017016479.2:c.318G>A, XM_017016479.1:c.318G>A, XM_024448113.2:c.318G>A, XM_024448113.1:c.318G>A, XM_011540019.2:c.318G>A, XM_011540019.1:c.318G>A, XM_011540024.2:c.318G>A, XM_011540024.1:c.318G>A, XM_024448107.2:c.318G>A, XM_024448107.1:c.318G>A, XM_024448108.2:c.318G>A, XM_024448108.1:c.318G>A, XM_011540018.2:c.318G>A, XM_011540018.1:c.318G>A, XM_024448110.2:c.318G>A, XM_024448110.1:c.318G>A, XM_011540017.2:c.318G>A, XM_011540017.1:c.318G>A, XM_011540022.2:c.318G>A, XM_011540022.1:c.318G>A, XM_017016483.2:c.318G>A, XM_017016483.1:c.318G>A, XM_017016484.2:c.318G>A, XM_017016484.1:c.318G>A, XM_017016487.2:c.318G>A, XM_017016487.1:c.318G>A, XM_024448114.2:c.318G>A, XM_024448114.1:c.318G>A, XM_024448109.2:c.318G>A, XM_024448109.1:c.318G>A, XM_017016482.2:c.318G>A, XM_017016482.1:c.318G>A, XM_011540021.2:c.318G>A, XM_011540021.1:c.318G>A, NM_001330178.2:c.318G>A, NM_001330178.1:c.318G>A, NM_001377231.1:c.318G>A, NM_001377242.1:c.318G>A, XM_047425602.1:c.318G>A, XM_047425603.1:c.318G>A, XM_047425607.1:c.318G>A, XM_047425604.1:c.318G>A, NM_001377243.1:c.318G>A, XM_047425608.1:c.318G>A, NM_001377232.1:c.318G>A, NM_001377234.1:c.318G>A, NM_001377244.1:c.318G>A, XM_047425599.1:c.318G>A, XM_047425610.1:c.318G>A, XM_047425598.1:c.318G>A, XM_047425612.1:c.318G>A, XM_047425600.1:c.318G>A, NM_001377235.1:c.318G>A, NM_001377238.1:c.318G>A, XM_047425611.1:c.318G>A, XM_047425613.1:c.318G>A, NR_165160.1:n.555G>A, NM_001377237.1:c.318G>A, NM_001377246.1:c.318G>A, XM_047425609.1:c.318G>A, NM_001377248.1:c.318G>A, XM_047425606.1:c.318G>A, NR_165165.1:n.555G>A, XM_047425605.1:c.318G>A, NR_165161.1:n.507G>A, NM_001377240.1:c.318G>A, NM_001377245.1:c.318G>A, NM_001377230.1:c.318G>A, NM_001377249.1:c.258G>A, NM_001377256.1:c.192G>A, NM_001377241.1:c.318G>A, NM_001377250.1:c.318G>A, NR_165164.1:n.461G>A, NM_001377258.1:c.318G>A

                8.

                rs1481972126 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:122417912 (GRCh38)
                  10:124177428 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:122417911:A:G
                  Gene:
                  PLEKHA1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000010.11:g.122417912A>G, NC_000010.10:g.124177428A>G, NG_027823.1:g.48335A>G, NM_021622.4:c.625A>G, NM_021622.5:c.625A>G, NM_001001974.2:c.625A>G, NM_001001974.4:c.625A>G, NM_001001974.3:c.625A>G, NM_001195608.1:c.625A>G, NM_001195608.2:c.625A>G, XM_017016478.3:c.625A>G, XM_017016478.2:c.625A>G, XM_017016478.1:c.625A>G, XM_017016479.3:c.625A>G, XM_017016479.2:c.625A>G, XM_017016479.1:c.625A>G, XM_024448113.2:c.625A>G, XM_024448113.1:c.625A>G, XM_011540019.2:c.625A>G, XM_011540019.1:c.625A>G, XM_011540024.2:c.625A>G, XM_011540024.1:c.625A>G, XM_024448107.2:c.625A>G, XM_024448107.1:c.625A>G, XM_024448108.2:c.625A>G, XM_024448108.1:c.625A>G, XM_011540018.2:c.625A>G, XM_011540018.1:c.625A>G, XM_024448110.2:c.625A>G, XM_024448110.1:c.625A>G, XM_011540017.2:c.625A>G, XM_011540017.1:c.625A>G, XM_011540022.2:c.625A>G, XM_011540022.1:c.625A>G, XM_017016483.2:c.625A>G, XM_017016483.1:c.625A>G, XM_017016484.2:c.625A>G, XM_017016484.1:c.625A>G, XM_017016487.2:c.625A>G, XM_017016487.1:c.625A>G, XM_024448114.2:c.625A>G, XM_024448114.1:c.625A>G, XM_024448109.2:c.625A>G, XM_024448109.1:c.625A>G, XM_017016482.2:c.625A>G, XM_017016482.1:c.625A>G, XM_011540021.2:c.625A>G, XM_011540021.1:c.625A>G, NM_001330178.2:c.625A>G, NM_001330178.1:c.625A>G, NM_001377231.1:c.625A>G, NM_001377242.1:c.625A>G, XM_047425602.1:c.625A>G, XM_047425603.1:c.625A>G, XM_047425607.1:c.625A>G, XM_047425604.1:c.625A>G, NM_001377243.1:c.625A>G, XM_047425608.1:c.625A>G, NM_001377232.1:c.625A>G, NM_001377234.1:c.625A>G, NM_001377244.1:c.625A>G, XM_047425599.1:c.625A>G, XM_047425610.1:c.625A>G, XM_047425598.1:c.625A>G, XM_047425612.1:c.625A>G, XM_047425600.1:c.625A>G, NM_001377235.1:c.625A>G, NM_001377238.1:c.625A>G, XM_047425611.1:c.625A>G, XM_047425613.1:c.625A>G, NR_165160.1:n.862A>G, NM_001377254.1:c.481A>G, NM_001377237.1:c.625A>G, NM_001377246.1:c.625A>G, XM_047425609.1:c.625A>G, NM_001377248.1:c.625A>G, XM_047425606.1:c.625A>G, NR_165165.1:n.862A>G, XM_047425605.1:c.625A>G, NR_165161.1:n.810A>G, NM_001377240.1:c.625A>G, NM_001377251.1:c.592A>G, NM_001377245.1:c.625A>G, NM_001377230.1:c.625A>G, NM_001377249.1:c.565A>G, NM_001377256.1:c.499A>G, NM_001377241.1:c.625A>G, NM_001377247.1:c.592A>G, NM_001377250.1:c.616A>G, NR_165164.1:n.768A>G, NM_001377255.1:c.481A>G, NR_165162.1:n.716A>G, NM_001377257.1:c.481A>G, NM_001377258.1:c.625A>G, NM_001377253.1:c.481A>G, NM_001377252.1:c.481A>G, NP_067635.2:p.Lys209Glu, NP_001001974.1:p.Lys209Glu, NP_001182537.1:p.Lys209Glu, XP_016871967.1:p.Lys209Glu, XP_016871968.1:p.Lys209Glu, XP_024303881.1:p.Lys209Glu, XP_011538321.1:p.Lys209Glu, XP_011538326.1:p.Lys209Glu, XP_024303875.1:p.Lys209Glu, XP_024303876.1:p.Lys209Glu, XP_011538320.1:p.Lys209Glu, XP_024303878.1:p.Lys209Glu, XP_011538319.1:p.Lys209Glu, XP_011538324.1:p.Lys209Glu, XP_016871972.1:p.Lys209Glu, XP_016871973.1:p.Lys209Glu, XP_016871976.1:p.Lys209Glu, XP_024303882.1:p.Lys209Glu, XP_024303877.1:p.Lys209Glu, XP_016871971.1:p.Lys209Glu, XP_011538323.1:p.Lys209Glu, NP_001317107.1:p.Lys209Glu, NP_001364160.1:p.Lys209Glu, NP_001364171.1:p.Lys209Glu, XP_047281558.1:p.Lys209Glu, XP_047281559.1:p.Lys209Glu, XP_047281563.1:p.Lys209Glu, XP_047281560.1:p.Lys209Glu, NP_001364172.1:p.Lys209Glu, XP_047281564.1:p.Lys209Glu, NP_001364161.1:p.Lys209Glu, NP_001364163.1:p.Lys209Glu, NP_001364173.1:p.Lys209Glu, XP_047281555.1:p.Lys209Glu, XP_047281566.1:p.Lys209Glu, XP_047281554.1:p.Lys209Glu, XP_047281568.1:p.Lys209Glu, XP_047281556.1:p.Lys209Glu, NP_001364164.1:p.Lys209Glu, NP_001364167.1:p.Lys209Glu, XP_047281567.1:p.Lys209Glu, XP_047281569.1:p.Lys209Glu, NP_001364183.1:p.Lys161Glu, NP_001364166.1:p.Lys209Glu, NP_001364175.1:p.Lys209Glu, XP_047281565.1:p.Lys209Glu, NP_001364177.1:p.Lys209Glu, XP_047281562.1:p.Lys209Glu, XP_047281561.1:p.Lys209Glu, NP_001364169.1:p.Lys209Glu, NP_001364180.1:p.Lys198Glu, NP_001364174.1:p.Lys209Glu, NP_001364159.1:p.Lys209Glu, NP_001364178.1:p.Lys189Glu, NP_001364185.1:p.Lys167Glu, NP_001364170.1:p.Lys209Glu, NP_001364176.1:p.Lys198Glu, NP_001364179.1:p.Lys206Glu, NP_001364184.1:p.Lys161Glu, NP_001364186.1:p.Lys161Glu, NP_001364187.1:p.Lys209Glu, NP_001364182.1:p.Lys161Glu, NP_001364181.1:p.Lys161Glu

                  9.

                  rs1481881117 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:122428343 (GRCh38)
                    10:124187859 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:122428342:G:A
                    Gene:
                    PLEKHA1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    HGVS:
                    NC_000010.11:g.122428343G>A, NC_000010.10:g.124187859G>A, NG_027823.1:g.58766G>A, NM_001195608.1:c.968G>A, NM_001195608.2:c.968G>A, XM_017016478.3:c.1033G>A, XM_017016478.2:c.1033G>A, XM_017016478.1:c.1033G>A, XM_011540019.2:c.1033G>A, XM_011540019.1:c.1033G>A, XM_011540024.2:c.1033G>A, XM_011540024.1:c.1033G>A, XM_024448107.2:c.1033G>A, XM_024448107.1:c.1033G>A, XM_024448108.2:c.1033G>A, XM_024448108.1:c.1033G>A, XM_011540018.2:c.1033G>A, XM_011540018.1:c.1033G>A, XM_024448110.2:c.1033G>A, XM_024448110.1:c.1033G>A, XM_011540017.2:c.1033G>A, XM_011540017.1:c.1033G>A, XM_011540022.2:c.1033G>A, XM_011540022.1:c.1033G>A, XM_017016483.2:c.968G>A, XM_017016483.1:c.968G>A, XM_017016484.2:c.968G>A, XM_017016484.1:c.968G>A, XM_024448109.2:c.1033G>A, XM_024448109.1:c.1033G>A, XM_011540021.2:c.1033G>A, XM_011540021.1:c.1033G>A, XM_047425602.1:c.1033G>A, XM_047425607.1:c.968G>A, XM_047425608.1:c.968G>A, XM_047425599.1:c.1033G>A, XM_047425610.1:c.968G>A, XM_047425598.1:c.1033G>A, XM_047425600.1:c.1033G>A, NM_001377238.1:c.968G>A, XM_047425611.1:c.968G>A, NM_001377237.1:c.968G>A, NM_001377246.1:c.968G>A, XM_047425609.1:c.968G>A, NM_001377245.1:c.968G>A, NM_001377255.1:c.824G>A, NP_001182537.1:p.Ser323Asn, XP_016871967.1:p.Ala345Thr, XP_011538321.1:p.Ala345Thr, XP_011538326.1:p.Ala345Thr, XP_024303875.1:p.Ala345Thr, XP_024303876.1:p.Ala345Thr, XP_011538320.1:p.Ala345Thr, XP_024303878.1:p.Ala345Thr, XP_011538319.1:p.Ala345Thr, XP_011538324.1:p.Ala345Thr, XP_016871972.1:p.Ser323Asn, XP_016871973.1:p.Ser323Asn, XP_024303877.1:p.Ala345Thr, XP_011538323.1:p.Ala345Thr, XP_047281558.1:p.Ala345Thr, XP_047281563.1:p.Ser323Asn, XP_047281564.1:p.Ser323Asn, XP_047281555.1:p.Ala345Thr, XP_047281566.1:p.Ser323Asn, XP_047281554.1:p.Ala345Thr, XP_047281556.1:p.Ala345Thr, NP_001364167.1:p.Ser323Asn, XP_047281567.1:p.Ser323Asn, NP_001364166.1:p.Ser323Asn, NP_001364175.1:p.Ser323Asn, XP_047281565.1:p.Ser323Asn, NP_001364174.1:p.Ser323Asn, NP_001364184.1:p.Ser275Asn

                    10.

                    rs1481162356 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      10:122428093 (GRCh38)
                      10:124187609 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:122428092:G:A
                      Gene:
                      PLEKHA1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000010.11:g.122428093G>A, NC_000010.10:g.124187609G>A, NG_027823.1:g.58516G>A, XM_017016478.3:c.912G>A, XM_017016478.2:c.912G>A, XM_017016478.1:c.912G>A, XM_017016479.3:c.912G>A, XM_017016479.2:c.912G>A, XM_017016479.1:c.912G>A, XM_011540019.2:c.912G>A, XM_011540019.1:c.912G>A, XM_011540024.2:c.912G>A, XM_011540024.1:c.912G>A, XM_024448107.2:c.912G>A, XM_024448107.1:c.912G>A, XM_024448108.2:c.912G>A, XM_024448108.1:c.912G>A, XM_011540018.2:c.912G>A, XM_011540018.1:c.912G>A, XM_024448110.2:c.912G>A, XM_024448110.1:c.912G>A, XM_011540017.2:c.912G>A, XM_011540017.1:c.912G>A, XM_011540022.2:c.912G>A, XM_011540022.1:c.912G>A, XM_024448109.2:c.912G>A, XM_024448109.1:c.912G>A, XM_011540021.2:c.912G>A, XM_011540021.1:c.912G>A, XM_047425602.1:c.912G>A, XM_047425599.1:c.912G>A, XM_047425598.1:c.912G>A, XM_047425600.1:c.912G>A, XP_016871967.1:p.Met304Ile, XP_016871968.1:p.Met304Ile, XP_011538321.1:p.Met304Ile, XP_011538326.1:p.Met304Ile, XP_024303875.1:p.Met304Ile, XP_024303876.1:p.Met304Ile, XP_011538320.1:p.Met304Ile, XP_024303878.1:p.Met304Ile, XP_011538319.1:p.Met304Ile, XP_011538324.1:p.Met304Ile, XP_024303877.1:p.Met304Ile, XP_011538323.1:p.Met304Ile, XP_047281558.1:p.Met304Ile, XP_047281555.1:p.Met304Ile, XP_047281554.1:p.Met304Ile, XP_047281556.1:p.Met304Ile

                      11.

                      rs1481039177 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        10:122429801 (GRCh38)
                        10:124189317 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:122429800:A:C
                        Gene:
                        PLEKHA1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.122429801A>C, NC_000010.10:g.124189317A>C, NG_027823.1:g.60224A>C, NM_021622.4:c.1078A>C, NM_021622.5:c.1078A>C, NM_001001974.2:c.1078A>C, NM_001001974.4:c.1078A>C, NM_001001974.3:c.1078A>C, NM_001195608.1:c.*218A>C, NM_001195608.2:c.*218A>C, XM_017016478.3:c.1214A>C, XM_017016478.2:c.1214A>C, XM_017016478.1:c.1214A>C, XM_017016479.3:c.1184A>C, XM_017016479.2:c.1184A>C, XM_017016479.1:c.1184A>C, XM_024448113.2:c.1078A>C, XM_024448113.1:c.1078A>C, XM_011540019.2:c.1214A>C, XM_011540019.1:c.1214A>C, XM_011540024.2:c.1214A>C, XM_011540024.1:c.1214A>C, XM_024448107.2:c.1214A>C, XM_024448107.1:c.1214A>C, XM_024448108.2:c.1214A>C, XM_024448108.1:c.1214A>C, XM_011540018.2:c.1214A>C, XM_011540018.1:c.1214A>C, XM_024448110.2:c.1214A>C, XM_024448110.1:c.1214A>C, XM_011540017.2:c.1214A>C, XM_011540017.1:c.1214A>C, XM_011540022.2:c.1214A>C, XM_011540022.1:c.1214A>C, XM_017016483.2:c.1149A>C, XM_017016483.1:c.1149A>C, XM_017016484.2:c.1149A>C, XM_017016484.1:c.1149A>C, XM_017016487.2:c.1119A>C, XM_017016487.1:c.1119A>C, XM_024448114.2:c.1078A>C, XM_024448114.1:c.1078A>C, XM_024448109.2:c.1214A>C, XM_024448109.1:c.1214A>C, XM_017016482.2:c.1078A>C, XM_017016482.1:c.1078A>C, XM_011540021.2:c.1214A>C, XM_011540021.1:c.1214A>C, NM_001330178.2:c.1119A>C, NM_001330178.1:c.1119A>C, NM_001377231.1:c.1078A>C, NM_001377242.1:c.1119A>C, XM_047425602.1:c.1214A>C, XM_047425603.1:c.1078A>C, XM_047425607.1:c.1149A>C, XM_047425604.1:c.1078A>C, NM_001377243.1:c.1119A>C, XM_047425608.1:c.1149A>C, NM_001377232.1:c.1078A>C, NM_001377234.1:c.1078A>C, NM_001377244.1:c.1119A>C, XM_047425599.1:c.1214A>C, XM_047425610.1:c.1149A>C, XM_047425598.1:c.1214A>C, XM_047425612.1:c.1119A>C, XM_047425600.1:c.1214A>C, NM_001377235.1:c.1078A>C, NM_001377238.1:c.*218A>C, XM_047425611.1:c.1149A>C, XM_047425613.1:c.1119A>C, NR_165160.1:n.1356A>C, NM_001377254.1:c.934A>C, NM_001377237.1:c.*218A>C, NM_001377246.1:c.1149A>C, XM_047425609.1:c.1149A>C, NM_001377248.1:c.1137A>C, XM_047425606.1:c.1078A>C, NR_165165.1:n.1315A>C, XM_047425605.1:c.1078A>C, NR_165161.1:n.1304A>C, NM_001377240.1:c.1119A>C, NM_001377251.1:c.1086A>C, NM_001377245.1:c.1149A>C, NM_001377230.1:c.1078A>C, NM_001377249.1:c.1018A>C, NM_001377256.1:c.993A>C, NM_001377241.1:c.1119A>C, NM_001377247.1:c.1045A>C, NM_001377250.1:c.1110A>C, NR_165164.1:n.1221A>C, NM_001377255.1:c.1005A>C, NR_165162.1:n.1169A>C, NM_001377257.1:c.975A>C, NM_001377258.1:c.*210A>C, NM_001377253.1:c.934A>C, NM_001377252.1:c.934A>C, NP_067635.2:p.Thr360Pro, NP_001001974.1:p.Thr360Pro, XP_016871967.1:p.Asp405Ala, XP_016871968.1:p.Asp395Ala, XP_024303881.1:p.Thr360Pro, XP_011538321.1:p.Asp405Ala, XP_011538326.1:p.Asp405Ala, XP_024303875.1:p.Asp405Ala, XP_024303876.1:p.Asp405Ala, XP_011538320.1:p.Asp405Ala, XP_024303878.1:p.Asp405Ala, XP_011538319.1:p.Asp405Ala, XP_011538324.1:p.Asp405Ala, XP_016871972.1:p.Arg383Ser, XP_016871973.1:p.Arg383Ser, XP_016871976.1:p.Arg373Ser, XP_024303882.1:p.Thr360Pro, XP_024303877.1:p.Asp405Ala, XP_016871971.1:p.Thr360Pro, XP_011538323.1:p.Asp405Ala, NP_001317107.1:p.Arg373Ser, NP_001364160.1:p.Thr360Pro, NP_001364171.1:p.Arg373Ser, XP_047281558.1:p.Asp405Ala, XP_047281559.1:p.Thr360Pro, XP_047281563.1:p.Arg383Ser, XP_047281560.1:p.Thr360Pro, NP_001364172.1:p.Arg373Ser, XP_047281564.1:p.Arg383Ser, NP_001364161.1:p.Thr360Pro, NP_001364163.1:p.Thr360Pro, NP_001364173.1:p.Arg373Ser, XP_047281555.1:p.Asp405Ala, XP_047281566.1:p.Arg383Ser, XP_047281554.1:p.Asp405Ala, XP_047281568.1:p.Arg373Ser, XP_047281556.1:p.Asp405Ala, NP_001364164.1:p.Thr360Pro, XP_047281567.1:p.Arg383Ser, XP_047281569.1:p.Arg373Ser, NP_001364183.1:p.Thr312Pro, NP_001364175.1:p.Arg383Ser, XP_047281565.1:p.Arg383Ser, NP_001364177.1:p.Arg379Ser, XP_047281562.1:p.Thr360Pro, XP_047281561.1:p.Thr360Pro, NP_001364169.1:p.Arg373Ser, NP_001364180.1:p.Arg362Ser, NP_001364174.1:p.Arg383Ser, NP_001364159.1:p.Thr360Pro, NP_001364178.1:p.Thr340Pro, NP_001364185.1:p.Arg331Ser, NP_001364170.1:p.Arg373Ser, NP_001364176.1:p.Thr349Pro, NP_001364179.1:p.Arg370Ser, NP_001364184.1:p.Arg335Ser, NP_001364186.1:p.Arg325Ser, NP_001364182.1:p.Thr312Pro, NP_001364181.1:p.Thr312Pro

                        12.

                        rs1473149636 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:122393301 (GRCh38)
                          10:124152817 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:122393300:C:T
                          Gene:
                          PLEKHA1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0.000111/1 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000010.11:g.122393301C>T, NC_000010.10:g.124152817C>T, NG_027823.1:g.23724C>T, NM_021622.4:c.101C>T, NM_021622.5:c.101C>T, NM_001001974.2:c.101C>T, NM_001001974.4:c.101C>T, NM_001001974.3:c.101C>T, NM_001195608.1:c.101C>T, NM_001195608.2:c.101C>T, XM_017016478.3:c.101C>T, XM_017016478.2:c.101C>T, XM_017016478.1:c.101C>T, XM_017016479.3:c.101C>T, XM_017016479.2:c.101C>T, XM_017016479.1:c.101C>T, XM_024448113.2:c.101C>T, XM_024448113.1:c.101C>T, XM_011540019.2:c.101C>T, XM_011540019.1:c.101C>T, XM_011540024.2:c.101C>T, XM_011540024.1:c.101C>T, XM_024448107.2:c.101C>T, XM_024448107.1:c.101C>T, XM_024448108.2:c.101C>T, XM_024448108.1:c.101C>T, XM_011540018.2:c.101C>T, XM_011540018.1:c.101C>T, XM_024448110.2:c.101C>T, XM_024448110.1:c.101C>T, XM_011540017.2:c.101C>T, XM_011540017.1:c.101C>T, XM_011540022.2:c.101C>T, XM_011540022.1:c.101C>T, XM_017016483.2:c.101C>T, XM_017016483.1:c.101C>T, XM_017016484.2:c.101C>T, XM_017016484.1:c.101C>T, XM_017016487.2:c.101C>T, XM_017016487.1:c.101C>T, XM_024448114.2:c.101C>T, XM_024448114.1:c.101C>T, XM_024448109.2:c.101C>T, XM_024448109.1:c.101C>T, XM_017016482.2:c.101C>T, XM_017016482.1:c.101C>T, XM_011540021.2:c.101C>T, XM_011540021.1:c.101C>T, NM_001330178.2:c.101C>T, NM_001330178.1:c.101C>T, NM_001377231.1:c.101C>T, NM_001377242.1:c.101C>T, XM_047425602.1:c.101C>T, XM_047425603.1:c.101C>T, XM_047425607.1:c.101C>T, XM_047425604.1:c.101C>T, NM_001377243.1:c.101C>T, XM_047425608.1:c.101C>T, NM_001377232.1:c.101C>T, NM_001377234.1:c.101C>T, NM_001377244.1:c.101C>T, XM_047425599.1:c.101C>T, XM_047425610.1:c.101C>T, XM_047425598.1:c.101C>T, XM_047425612.1:c.101C>T, XM_047425600.1:c.101C>T, NM_001377235.1:c.101C>T, NM_001377238.1:c.101C>T, XM_047425611.1:c.101C>T, XM_047425613.1:c.101C>T, NR_165160.1:n.220C>T, NM_001377254.1:c.101C>T, NM_001377237.1:c.101C>T, NM_001377246.1:c.101C>T, XM_047425609.1:c.101C>T, NM_001377248.1:c.101C>T, XM_047425606.1:c.101C>T, NR_165165.1:n.220C>T, XM_047425605.1:c.101C>T, NR_165161.1:n.290C>T, NM_001377240.1:c.101C>T, NM_001377251.1:c.101C>T, NM_001377245.1:c.101C>T, NM_001377230.1:c.101C>T, NM_001377249.1:c.46C>T, NM_001377256.1:c.-26C>T, NM_001377241.1:c.101C>T, NM_001377247.1:c.101C>T, NM_001377250.1:c.101C>T, NR_165164.1:n.290C>T, NM_001377255.1:c.101C>T, NR_165162.1:n.290C>T, NM_001377257.1:c.101C>T, NM_001377258.1:c.101C>T, NM_001377253.1:c.101C>T, NM_001377252.1:c.101C>T, NP_067635.2:p.Thr34Ile, NP_001001974.1:p.Thr34Ile, NP_001182537.1:p.Thr34Ile, XP_016871967.1:p.Thr34Ile, XP_016871968.1:p.Thr34Ile, XP_024303881.1:p.Thr34Ile, XP_011538321.1:p.Thr34Ile, XP_011538326.1:p.Thr34Ile, XP_024303875.1:p.Thr34Ile, XP_024303876.1:p.Thr34Ile, XP_011538320.1:p.Thr34Ile, XP_024303878.1:p.Thr34Ile, XP_011538319.1:p.Thr34Ile, XP_011538324.1:p.Thr34Ile, XP_016871972.1:p.Thr34Ile, XP_016871973.1:p.Thr34Ile, XP_016871976.1:p.Thr34Ile, XP_024303882.1:p.Thr34Ile, XP_024303877.1:p.Thr34Ile, XP_016871971.1:p.Thr34Ile, XP_011538323.1:p.Thr34Ile, NP_001317107.1:p.Thr34Ile, NP_001364160.1:p.Thr34Ile, NP_001364171.1:p.Thr34Ile, XP_047281558.1:p.Thr34Ile, XP_047281559.1:p.Thr34Ile, XP_047281563.1:p.Thr34Ile, XP_047281560.1:p.Thr34Ile, NP_001364172.1:p.Thr34Ile, XP_047281564.1:p.Thr34Ile, NP_001364161.1:p.Thr34Ile, NP_001364163.1:p.Thr34Ile, NP_001364173.1:p.Thr34Ile, XP_047281555.1:p.Thr34Ile, XP_047281566.1:p.Thr34Ile, XP_047281554.1:p.Thr34Ile, XP_047281568.1:p.Thr34Ile, XP_047281556.1:p.Thr34Ile, NP_001364164.1:p.Thr34Ile, NP_001364167.1:p.Thr34Ile, XP_047281567.1:p.Thr34Ile, XP_047281569.1:p.Thr34Ile, NP_001364183.1:p.Thr34Ile, NP_001364166.1:p.Thr34Ile, NP_001364175.1:p.Thr34Ile, XP_047281565.1:p.Thr34Ile, NP_001364177.1:p.Thr34Ile, XP_047281562.1:p.Thr34Ile, XP_047281561.1:p.Thr34Ile, NP_001364169.1:p.Thr34Ile, NP_001364180.1:p.Thr34Ile, NP_001364174.1:p.Thr34Ile, NP_001364159.1:p.Thr34Ile, NP_001364178.1:p.Pro16Ser, NP_001364170.1:p.Thr34Ile, NP_001364176.1:p.Thr34Ile, NP_001364179.1:p.Thr34Ile, NP_001364184.1:p.Thr34Ile, NP_001364186.1:p.Thr34Ile, NP_001364187.1:p.Thr34Ile, NP_001364182.1:p.Thr34Ile, NP_001364181.1:p.Thr34Ile

                          13.

                          rs1472338473 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G,T [Show Flanks]
                            Chromosome:
                            10:122429670 (GRCh38)
                            10:124189186 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:122429669:C:G,NC_000010.11:122429669:C:T
                            Gene:
                            PLEKHA1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,stop_gained,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000084/1 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000010.11:g.122429670C>G, NC_000010.11:g.122429670C>T, NC_000010.10:g.124189186C>G, NC_000010.10:g.124189186C>T, NG_027823.1:g.60093C>G, NG_027823.1:g.60093C>T, NM_021622.4:c.947C>G, NM_021622.4:c.947C>T, NM_021622.5:c.947C>G, NM_021622.5:c.947C>T, NM_001001974.2:c.947C>G, NM_001001974.2:c.947C>T, NM_001001974.4:c.947C>G, NM_001001974.4:c.947C>T, NM_001001974.3:c.947C>G, NM_001001974.3:c.947C>T, NM_001195608.1:c.*87C>G, NM_001195608.1:c.*87C>T, NM_001195608.2:c.*87C>G, NM_001195608.2:c.*87C>T, XM_017016478.3:c.1083C>G, XM_017016478.3:c.1083C>T, XM_017016478.2:c.1083C>G, XM_017016478.2:c.1083C>T, XM_017016478.1:c.1083C>G, XM_017016478.1:c.1083C>T, XM_017016479.3:c.1053C>G, XM_017016479.3:c.1053C>T, XM_017016479.2:c.1053C>G, XM_017016479.2:c.1053C>T, XM_017016479.1:c.1053C>G, XM_017016479.1:c.1053C>T, XM_024448113.2:c.947C>G, XM_024448113.2:c.947C>T, XM_024448113.1:c.947C>G, XM_024448113.1:c.947C>T, XM_011540019.2:c.1083C>G, XM_011540019.2:c.1083C>T, XM_011540019.1:c.1083C>G, XM_011540019.1:c.1083C>T, XM_011540024.2:c.1083C>G, XM_011540024.2:c.1083C>T, XM_011540024.1:c.1083C>G, XM_011540024.1:c.1083C>T, XM_024448107.2:c.1083C>G, XM_024448107.2:c.1083C>T, XM_024448107.1:c.1083C>G, XM_024448107.1:c.1083C>T, XM_024448108.2:c.1083C>G, XM_024448108.2:c.1083C>T, XM_024448108.1:c.1083C>G, XM_024448108.1:c.1083C>T, XM_011540018.2:c.1083C>G, XM_011540018.2:c.1083C>T, XM_011540018.1:c.1083C>G, XM_011540018.1:c.1083C>T, XM_024448110.2:c.1083C>G, XM_024448110.2:c.1083C>T, XM_024448110.1:c.1083C>G, XM_024448110.1:c.1083C>T, XM_011540017.2:c.1083C>G, XM_011540017.2:c.1083C>T, XM_011540017.1:c.1083C>G, XM_011540017.1:c.1083C>T, XM_011540022.2:c.1083C>G, XM_011540022.2:c.1083C>T, XM_011540022.1:c.1083C>G, XM_011540022.1:c.1083C>T, XM_017016483.2:c.1018C>G, XM_017016483.2:c.1018C>T, XM_017016483.1:c.1018C>G, XM_017016483.1:c.1018C>T, XM_017016484.2:c.1018C>G, XM_017016484.2:c.1018C>T, XM_017016484.1:c.1018C>G, XM_017016484.1:c.1018C>T, XM_017016487.2:c.988C>G, XM_017016487.2:c.988C>T, XM_017016487.1:c.988C>G, XM_017016487.1:c.988C>T, XM_024448114.2:c.947C>G, XM_024448114.2:c.947C>T, XM_024448114.1:c.947C>G, XM_024448114.1:c.947C>T, XM_024448109.2:c.1083C>G, XM_024448109.2:c.1083C>T, XM_024448109.1:c.1083C>G, XM_024448109.1:c.1083C>T, XM_017016482.2:c.947C>G, XM_017016482.2:c.947C>T, XM_017016482.1:c.947C>G, XM_017016482.1:c.947C>T, XM_011540021.2:c.1083C>G, XM_011540021.2:c.1083C>T, XM_011540021.1:c.1083C>G, XM_011540021.1:c.1083C>T, NM_001330178.2:c.988C>G, NM_001330178.2:c.988C>T, NM_001330178.1:c.988C>G, NM_001330178.1:c.988C>T, NM_001377231.1:c.947C>G, NM_001377231.1:c.947C>T, NM_001377242.1:c.988C>G, NM_001377242.1:c.988C>T, XM_047425602.1:c.1083C>G, XM_047425602.1:c.1083C>T, XM_047425603.1:c.947C>G, XM_047425603.1:c.947C>T, XM_047425607.1:c.1018C>G, XM_047425607.1:c.1018C>T, XM_047425604.1:c.947C>G, XM_047425604.1:c.947C>T, NM_001377243.1:c.988C>G, NM_001377243.1:c.988C>T, XM_047425608.1:c.1018C>G, XM_047425608.1:c.1018C>T, NM_001377232.1:c.947C>G, NM_001377232.1:c.947C>T, NM_001377234.1:c.947C>G, NM_001377234.1:c.947C>T, NM_001377244.1:c.988C>G, NM_001377244.1:c.988C>T, XM_047425599.1:c.1083C>G, XM_047425599.1:c.1083C>T, XM_047425610.1:c.1018C>G, XM_047425610.1:c.1018C>T, XM_047425598.1:c.1083C>G, XM_047425598.1:c.1083C>T, XM_047425612.1:c.988C>G, XM_047425612.1:c.988C>T, XM_047425600.1:c.1083C>G, XM_047425600.1:c.1083C>T, NM_001377235.1:c.947C>G, NM_001377235.1:c.947C>T, NM_001377238.1:c.*87C>G, NM_001377238.1:c.*87C>T, XM_047425611.1:c.1018C>G, XM_047425611.1:c.1018C>T, XM_047425613.1:c.988C>G, XM_047425613.1:c.988C>T, NR_165160.1:n.1225C>G, NR_165160.1:n.1225C>T, NM_001377254.1:c.803C>G, NM_001377254.1:c.803C>T, NM_001377237.1:c.*87C>G, NM_001377237.1:c.*87C>T, NM_001377246.1:c.1018C>G, NM_001377246.1:c.1018C>T, XM_047425609.1:c.1018C>G, XM_047425609.1:c.1018C>T, NM_001377248.1:c.1006C>G, NM_001377248.1:c.1006C>T, XM_047425606.1:c.947C>G, XM_047425606.1:c.947C>T, NR_165165.1:n.1184C>G, NR_165165.1:n.1184C>T, XM_047425605.1:c.947C>G, XM_047425605.1:c.947C>T, NR_165161.1:n.1173C>G, NR_165161.1:n.1173C>T, NM_001377240.1:c.988C>G, NM_001377240.1:c.988C>T, NM_001377251.1:c.955C>G, NM_001377251.1:c.955C>T, NM_001377245.1:c.1018C>G, NM_001377245.1:c.1018C>T, NM_001377230.1:c.947C>G, NM_001377230.1:c.947C>T, NM_001377249.1:c.887C>G, NM_001377249.1:c.887C>T, NM_001377256.1:c.862C>G, NM_001377256.1:c.862C>T, NM_001377241.1:c.988C>G, NM_001377241.1:c.988C>T, NM_001377247.1:c.914C>G, NM_001377247.1:c.914C>T, NM_001377250.1:c.979C>G, NM_001377250.1:c.979C>T, NR_165164.1:n.1090C>G, NR_165164.1:n.1090C>T, NM_001377255.1:c.874C>G, NM_001377255.1:c.874C>T, NR_165162.1:n.1038C>G, NR_165162.1:n.1038C>T, NM_001377257.1:c.844C>G, NM_001377257.1:c.844C>T, NM_001377258.1:c.*79C>G, NM_001377258.1:c.*79C>T, NM_001377253.1:c.803C>G, NM_001377253.1:c.803C>T, NM_001377252.1:c.803C>G, NM_001377252.1:c.803C>T, NP_067635.2:p.Thr316Ser, NP_067635.2:p.Thr316Ile, NP_001001974.1:p.Thr316Ser, NP_001001974.1:p.Thr316Ile, XP_016871967.1:p.Tyr361Ter, XP_016871968.1:p.Tyr351Ter, XP_024303881.1:p.Thr316Ser, XP_024303881.1:p.Thr316Ile, XP_011538321.1:p.Tyr361Ter, XP_011538326.1:p.Tyr361Ter, XP_024303875.1:p.Tyr361Ter, XP_024303876.1:p.Tyr361Ter, XP_011538320.1:p.Tyr361Ter, XP_024303878.1:p.Tyr361Ter, XP_011538319.1:p.Tyr361Ter, XP_011538324.1:p.Tyr361Ter, XP_016871972.1:p.Pro340Ala, XP_016871972.1:p.Pro340Ser, XP_016871973.1:p.Pro340Ala, XP_016871973.1:p.Pro340Ser, XP_016871976.1:p.Pro330Ala, XP_016871976.1:p.Pro330Ser, XP_024303882.1:p.Thr316Ser, XP_024303882.1:p.Thr316Ile, XP_024303877.1:p.Tyr361Ter, XP_016871971.1:p.Thr316Ser, XP_016871971.1:p.Thr316Ile, XP_011538323.1:p.Tyr361Ter, NP_001317107.1:p.Pro330Ala, NP_001317107.1:p.Pro330Ser, NP_001364160.1:p.Thr316Ser, NP_001364160.1:p.Thr316Ile, NP_001364171.1:p.Pro330Ala, NP_001364171.1:p.Pro330Ser, XP_047281558.1:p.Tyr361Ter, XP_047281559.1:p.Thr316Ser, XP_047281559.1:p.Thr316Ile, XP_047281563.1:p.Pro340Ala, XP_047281563.1:p.Pro340Ser, XP_047281560.1:p.Thr316Ser, XP_047281560.1:p.Thr316Ile, NP_001364172.1:p.Pro330Ala, NP_001364172.1:p.Pro330Ser, XP_047281564.1:p.Pro340Ala, XP_047281564.1:p.Pro340Ser, NP_001364161.1:p.Thr316Ser, NP_001364161.1:p.Thr316Ile, NP_001364163.1:p.Thr316Ser, NP_001364163.1:p.Thr316Ile, NP_001364173.1:p.Pro330Ala, NP_001364173.1:p.Pro330Ser, XP_047281555.1:p.Tyr361Ter, XP_047281566.1:p.Pro340Ala, XP_047281566.1:p.Pro340Ser, XP_047281554.1:p.Tyr361Ter, XP_047281568.1:p.Pro330Ala, XP_047281568.1:p.Pro330Ser, XP_047281556.1:p.Tyr361Ter, NP_001364164.1:p.Thr316Ser, NP_001364164.1:p.Thr316Ile, XP_047281567.1:p.Pro340Ala, XP_047281567.1:p.Pro340Ser, XP_047281569.1:p.Pro330Ala, XP_047281569.1:p.Pro330Ser, NP_001364183.1:p.Thr268Ser, NP_001364183.1:p.Thr268Ile, NP_001364175.1:p.Pro340Ala, NP_001364175.1:p.Pro340Ser, XP_047281565.1:p.Pro340Ala, XP_047281565.1:p.Pro340Ser, NP_001364177.1:p.Pro336Ala, NP_001364177.1:p.Pro336Ser, XP_047281562.1:p.Thr316Ser, XP_047281562.1:p.Thr316Ile, XP_047281561.1:p.Thr316Ser, XP_047281561.1:p.Thr316Ile, NP_001364169.1:p.Pro330Ala, NP_001364169.1:p.Pro330Ser, NP_001364180.1:p.Pro319Ala, NP_001364180.1:p.Pro319Ser, NP_001364174.1:p.Pro340Ala, NP_001364174.1:p.Pro340Ser, NP_001364159.1:p.Thr316Ser, NP_001364159.1:p.Thr316Ile, NP_001364178.1:p.Thr296Ser, NP_001364178.1:p.Thr296Ile, NP_001364185.1:p.Pro288Ala, NP_001364185.1:p.Pro288Ser, NP_001364170.1:p.Pro330Ala, NP_001364170.1:p.Pro330Ser, NP_001364176.1:p.Thr305Ser, NP_001364176.1:p.Thr305Ile, NP_001364179.1:p.Pro327Ala, NP_001364179.1:p.Pro327Ser, NP_001364184.1:p.Pro292Ala, NP_001364184.1:p.Pro292Ser, NP_001364186.1:p.Pro282Ala, NP_001364186.1:p.Pro282Ser, NP_001364182.1:p.Thr268Ser, NP_001364182.1:p.Thr268Ile, NP_001364181.1:p.Thr268Ser, NP_001364181.1:p.Thr268Ile

                            14.

                            rs1472165380 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:122428295 (GRCh38)
                              10:124187811 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:122428294:T:C
                              Gene:
                              PLEKHA1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              NC_000010.11:g.122428295T>C, NC_000010.10:g.124187811T>C, NG_027823.1:g.58718T>C, NM_001195608.1:c.920T>C, NM_001195608.2:c.920T>C, XM_017016478.3:c.985T>C, XM_017016478.2:c.985T>C, XM_017016478.1:c.985T>C, XM_017016479.3:c.985T>C, XM_017016479.2:c.985T>C, XM_017016479.1:c.985T>C, XM_011540019.2:c.985T>C, XM_011540019.1:c.985T>C, XM_011540024.2:c.985T>C, XM_011540024.1:c.985T>C, XM_024448107.2:c.985T>C, XM_024448107.1:c.985T>C, XM_024448108.2:c.985T>C, XM_024448108.1:c.985T>C, XM_011540018.2:c.985T>C, XM_011540018.1:c.985T>C, XM_024448110.2:c.985T>C, XM_024448110.1:c.985T>C, XM_011540017.2:c.985T>C, XM_011540017.1:c.985T>C, XM_011540022.2:c.985T>C, XM_011540022.1:c.985T>C, XM_017016483.2:c.920T>C, XM_017016483.1:c.920T>C, XM_017016484.2:c.920T>C, XM_017016484.1:c.920T>C, XM_017016487.2:c.920T>C, XM_017016487.1:c.920T>C, XM_024448109.2:c.985T>C, XM_024448109.1:c.985T>C, XM_011540021.2:c.985T>C, XM_011540021.1:c.985T>C, NM_001330178.2:c.920T>C, NM_001330178.1:c.920T>C, NM_001377242.1:c.920T>C, XM_047425602.1:c.985T>C, XM_047425607.1:c.920T>C, NM_001377243.1:c.920T>C, XM_047425608.1:c.920T>C, NM_001377244.1:c.920T>C, XM_047425599.1:c.985T>C, XM_047425610.1:c.920T>C, XM_047425598.1:c.985T>C, XM_047425612.1:c.920T>C, XM_047425600.1:c.985T>C, NM_001377238.1:c.920T>C, XM_047425611.1:c.920T>C, XM_047425613.1:c.920T>C, NR_165160.1:n.1157T>C, NM_001377237.1:c.920T>C, NM_001377246.1:c.920T>C, XM_047425609.1:c.920T>C, NM_001377248.1:c.938T>C, NR_165161.1:n.1105T>C, NM_001377240.1:c.920T>C, NM_001377251.1:c.887T>C, NM_001377245.1:c.920T>C, NM_001377256.1:c.794T>C, NM_001377241.1:c.920T>C, NM_001377250.1:c.911T>C, NM_001377255.1:c.776T>C, NM_001377257.1:c.776T>C, NP_001182537.1:p.Leu307Pro, XP_016871967.1:p.Cys329Arg, XP_016871968.1:p.Cys329Arg, XP_011538321.1:p.Cys329Arg, XP_011538326.1:p.Cys329Arg, XP_024303875.1:p.Cys329Arg, XP_024303876.1:p.Cys329Arg, XP_011538320.1:p.Cys329Arg, XP_024303878.1:p.Cys329Arg, XP_011538319.1:p.Cys329Arg, XP_011538324.1:p.Cys329Arg, XP_016871972.1:p.Leu307Pro, XP_016871973.1:p.Leu307Pro, XP_016871976.1:p.Leu307Pro, XP_024303877.1:p.Cys329Arg, XP_011538323.1:p.Cys329Arg, NP_001317107.1:p.Leu307Pro, NP_001364171.1:p.Leu307Pro, XP_047281558.1:p.Cys329Arg, XP_047281563.1:p.Leu307Pro, NP_001364172.1:p.Leu307Pro, XP_047281564.1:p.Leu307Pro, NP_001364173.1:p.Leu307Pro, XP_047281555.1:p.Cys329Arg, XP_047281566.1:p.Leu307Pro, XP_047281554.1:p.Cys329Arg, XP_047281568.1:p.Leu307Pro, XP_047281556.1:p.Cys329Arg, NP_001364167.1:p.Leu307Pro, XP_047281567.1:p.Leu307Pro, XP_047281569.1:p.Leu307Pro, NP_001364166.1:p.Leu307Pro, NP_001364175.1:p.Leu307Pro, XP_047281565.1:p.Leu307Pro, NP_001364177.1:p.Leu313Pro, NP_001364169.1:p.Leu307Pro, NP_001364180.1:p.Leu296Pro, NP_001364174.1:p.Leu307Pro, NP_001364185.1:p.Leu265Pro, NP_001364170.1:p.Leu307Pro, NP_001364179.1:p.Leu304Pro, NP_001364184.1:p.Leu259Pro, NP_001364186.1:p.Leu259Pro

                              15.

                              rs1471366346 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:122428284 (GRCh38)
                                10:124187800 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:122428283:G:A
                                Gene:
                                PLEKHA1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant
                                HGVS:
                                NC_000010.11:g.122428284G>A, NC_000010.10:g.124187800G>A, NG_027823.1:g.58707G>A, NM_001195608.1:c.909G>A, NM_001195608.2:c.909G>A, XM_017016478.3:c.974G>A, XM_017016478.2:c.974G>A, XM_017016478.1:c.974G>A, XM_017016479.3:c.974G>A, XM_017016479.2:c.974G>A, XM_017016479.1:c.974G>A, XM_011540019.2:c.974G>A, XM_011540019.1:c.974G>A, XM_011540024.2:c.974G>A, XM_011540024.1:c.974G>A, XM_024448107.2:c.974G>A, XM_024448107.1:c.974G>A, XM_024448108.2:c.974G>A, XM_024448108.1:c.974G>A, XM_011540018.2:c.974G>A, XM_011540018.1:c.974G>A, XM_024448110.2:c.974G>A, XM_024448110.1:c.974G>A, XM_011540017.2:c.974G>A, XM_011540017.1:c.974G>A, XM_011540022.2:c.974G>A, XM_011540022.1:c.974G>A, XM_017016483.2:c.909G>A, XM_017016483.1:c.909G>A, XM_017016484.2:c.909G>A, XM_017016484.1:c.909G>A, XM_017016487.2:c.909G>A, XM_017016487.1:c.909G>A, XM_024448109.2:c.974G>A, XM_024448109.1:c.974G>A, XM_011540021.2:c.974G>A, XM_011540021.1:c.974G>A, NM_001330178.2:c.909G>A, NM_001330178.1:c.909G>A, NM_001377242.1:c.909G>A, XM_047425602.1:c.974G>A, XM_047425607.1:c.909G>A, NM_001377243.1:c.909G>A, XM_047425608.1:c.909G>A, NM_001377244.1:c.909G>A, XM_047425599.1:c.974G>A, XM_047425610.1:c.909G>A, XM_047425598.1:c.974G>A, XM_047425612.1:c.909G>A, XM_047425600.1:c.974G>A, NM_001377238.1:c.909G>A, XM_047425611.1:c.909G>A, XM_047425613.1:c.909G>A, NR_165160.1:n.1146G>A, NM_001377237.1:c.909G>A, NM_001377246.1:c.909G>A, XM_047425609.1:c.909G>A, NM_001377248.1:c.927G>A, NR_165161.1:n.1094G>A, NM_001377240.1:c.909G>A, NM_001377251.1:c.876G>A, NM_001377245.1:c.909G>A, NM_001377256.1:c.783G>A, NM_001377241.1:c.909G>A, NM_001377250.1:c.900G>A, NM_001377255.1:c.765G>A, NM_001377257.1:c.765G>A, XP_016871967.1:p.Arg325Lys, XP_016871968.1:p.Arg325Lys, XP_011538321.1:p.Arg325Lys, XP_011538326.1:p.Arg325Lys, XP_024303875.1:p.Arg325Lys, XP_024303876.1:p.Arg325Lys, XP_011538320.1:p.Arg325Lys, XP_024303878.1:p.Arg325Lys, XP_011538319.1:p.Arg325Lys, XP_011538324.1:p.Arg325Lys, XP_024303877.1:p.Arg325Lys, XP_011538323.1:p.Arg325Lys, XP_047281558.1:p.Arg325Lys, XP_047281555.1:p.Arg325Lys, XP_047281554.1:p.Arg325Lys, XP_047281556.1:p.Arg325Lys

                                16.

                                rs1470658955 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAT>- [Show Flanks]
                                  Chromosome:
                                  10:122424902 (GRCh38)
                                  10:124184418 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:122424899:ATAAT:AT
                                  Gene:
                                  PLEKHA1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,non_coding_transcript_variant,inframe_deletion
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AT=0./0 (ALFA)
                                  -=0.000007/1 (GnomAD)
                                  -=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.122424902_122424904del, NC_000010.10:g.124184418_124184420del, NG_027823.1:g.55325_55327del, NM_021622.4:c.753_755del, NM_021622.5:c.753_755del, NM_001001974.2:c.753_755del, NM_001001974.4:c.753_755del, NM_001001974.3:c.753_755del, NM_001195608.1:c.753_755del, NM_001195608.2:c.753_755del, XM_017016478.3:c.753_755del, XM_017016478.2:c.753_755del, XM_017016478.1:c.753_755del, XM_017016479.3:c.753_755del, XM_017016479.2:c.753_755del, XM_017016479.1:c.753_755del, XM_024448113.2:c.753_755del, XM_024448113.1:c.753_755del, XM_011540019.2:c.753_755del, XM_011540019.1:c.753_755del, XM_011540024.2:c.753_755del, XM_011540024.1:c.753_755del, XM_024448107.2:c.753_755del, XM_024448107.1:c.753_755del, XM_024448108.2:c.753_755del, XM_024448108.1:c.753_755del, XM_011540018.2:c.753_755del, XM_011540018.1:c.753_755del, XM_024448110.2:c.753_755del, XM_024448110.1:c.753_755del, XM_011540017.2:c.753_755del, XM_011540017.1:c.753_755del, XM_011540022.2:c.753_755del, XM_011540022.1:c.753_755del, XM_017016483.2:c.753_755del, XM_017016483.1:c.753_755del, XM_017016484.2:c.753_755del, XM_017016484.1:c.753_755del, XM_017016487.2:c.753_755del, XM_017016487.1:c.753_755del, XM_024448114.2:c.753_755del, XM_024448114.1:c.753_755del, XM_024448109.2:c.753_755del, XM_024448109.1:c.753_755del, XM_017016482.2:c.753_755del, XM_017016482.1:c.753_755del, XM_011540021.2:c.753_755del, XM_011540021.1:c.753_755del, NM_001330178.2:c.753_755del, NM_001330178.1:c.753_755del, NM_001377231.1:c.753_755del, NM_001377242.1:c.753_755del, XM_047425602.1:c.753_755del, XM_047425603.1:c.753_755del, XM_047425607.1:c.753_755del, XM_047425604.1:c.753_755del, NM_001377243.1:c.753_755del, XM_047425608.1:c.753_755del, NM_001377232.1:c.753_755del, NM_001377234.1:c.753_755del, NM_001377244.1:c.753_755del, XM_047425599.1:c.753_755del, XM_047425610.1:c.753_755del, XM_047425598.1:c.753_755del, XM_047425612.1:c.753_755del, XM_047425600.1:c.753_755del, NM_001377235.1:c.753_755del, NM_001377238.1:c.753_755del, XM_047425611.1:c.753_755del, XM_047425613.1:c.753_755del, NR_165160.1:n.990_992del, NM_001377254.1:c.609_611del, NM_001377237.1:c.753_755del, NM_001377246.1:c.753_755del, XM_047425609.1:c.753_755del, NM_001377248.1:c.753_755del, XM_047425606.1:c.753_755del, NR_165165.1:n.990_992del, XM_047425605.1:c.753_755del, NR_165161.1:n.938_940del, NM_001377240.1:c.753_755del, NM_001377251.1:c.720_722del, NM_001377245.1:c.753_755del, NM_001377230.1:c.753_755del, NM_001377249.1:c.693_695del, NM_001377256.1:c.627_629del, NM_001377241.1:c.753_755del, NM_001377247.1:c.720_722del, NM_001377250.1:c.744_746del, NR_165164.1:n.896_898del, NM_001377255.1:c.609_611del, NR_165162.1:n.844_846del, NM_001377257.1:c.609_611del, NM_001377253.1:c.609_611del, NM_001377252.1:c.609_611del, NP_067635.2:p.Ile251del, NP_001001974.1:p.Ile251del, NP_001182537.1:p.Ile251del, XP_016871967.1:p.Ile251del, XP_016871968.1:p.Ile251del, XP_024303881.1:p.Ile251del, XP_011538321.1:p.Ile251del, XP_011538326.1:p.Ile251del, XP_024303875.1:p.Ile251del, XP_024303876.1:p.Ile251del, XP_011538320.1:p.Ile251del, XP_024303878.1:p.Ile251del, XP_011538319.1:p.Ile251del, XP_011538324.1:p.Ile251del, XP_016871972.1:p.Ile251del, XP_016871973.1:p.Ile251del, XP_016871976.1:p.Ile251del, XP_024303882.1:p.Ile251del, XP_024303877.1:p.Ile251del, XP_016871971.1:p.Ile251del, XP_011538323.1:p.Ile251del, NP_001317107.1:p.Ile251del, NP_001364160.1:p.Ile251del, NP_001364171.1:p.Ile251del, XP_047281558.1:p.Ile251del, XP_047281559.1:p.Ile251del, XP_047281563.1:p.Ile251del, XP_047281560.1:p.Ile251del, NP_001364172.1:p.Ile251del, XP_047281564.1:p.Ile251del, NP_001364161.1:p.Ile251del, NP_001364163.1:p.Ile251del, NP_001364173.1:p.Ile251del, XP_047281555.1:p.Ile251del, XP_047281566.1:p.Ile251del, XP_047281554.1:p.Ile251del, XP_047281568.1:p.Ile251del, XP_047281556.1:p.Ile251del, NP_001364164.1:p.Ile251del, NP_001364167.1:p.Ile251del, XP_047281567.1:p.Ile251del, XP_047281569.1:p.Ile251del, NP_001364183.1:p.Ile203del, NP_001364166.1:p.Ile251del, NP_001364175.1:p.Ile251del, XP_047281565.1:p.Ile251del, NP_001364177.1:p.Ile251del, XP_047281562.1:p.Ile251del, XP_047281561.1:p.Ile251del, NP_001364169.1:p.Ile251del, NP_001364180.1:p.Ile240del, NP_001364174.1:p.Ile251del, NP_001364159.1:p.Ile251del, NP_001364178.1:p.Ile231del, NP_001364185.1:p.Ile209del, NP_001364170.1:p.Ile251del, NP_001364176.1:p.Ile240del, NP_001364179.1:p.Ile248del, NP_001364184.1:p.Ile203del, NP_001364186.1:p.Ile203del, NP_001364182.1:p.Ile203del, NP_001364181.1:p.Ile203del

                                  17.

                                  rs1469353914 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    10:122429672 (GRCh38)
                                    10:124189188 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:122429671:A:C
                                    Gene:
                                    PLEKHA1 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000066/1 (ALFA)
                                    C=0.000014/2 (GnomAD)
                                    C=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000010.11:g.122429672A>C, NC_000010.10:g.124189188A>C, NG_027823.1:g.60095A>C, NM_021622.4:c.949A>C, NM_021622.5:c.949A>C, NM_001001974.2:c.949A>C, NM_001001974.4:c.949A>C, NM_001001974.3:c.949A>C, NM_001195608.1:c.*89A>C, NM_001195608.2:c.*89A>C, XM_017016478.3:c.1085A>C, XM_017016478.2:c.1085A>C, XM_017016478.1:c.1085A>C, XM_017016479.3:c.1055A>C, XM_017016479.2:c.1055A>C, XM_017016479.1:c.1055A>C, XM_024448113.2:c.949A>C, XM_024448113.1:c.949A>C, XM_011540019.2:c.1085A>C, XM_011540019.1:c.1085A>C, XM_011540024.2:c.1085A>C, XM_011540024.1:c.1085A>C, XM_024448107.2:c.1085A>C, XM_024448107.1:c.1085A>C, XM_024448108.2:c.1085A>C, XM_024448108.1:c.1085A>C, XM_011540018.2:c.1085A>C, XM_011540018.1:c.1085A>C, XM_024448110.2:c.1085A>C, XM_024448110.1:c.1085A>C, XM_011540017.2:c.1085A>C, XM_011540017.1:c.1085A>C, XM_011540022.2:c.1085A>C, XM_011540022.1:c.1085A>C, XM_017016483.2:c.1020A>C, XM_017016483.1:c.1020A>C, XM_017016484.2:c.1020A>C, XM_017016484.1:c.1020A>C, XM_017016487.2:c.990A>C, XM_017016487.1:c.990A>C, XM_024448114.2:c.949A>C, XM_024448114.1:c.949A>C, XM_024448109.2:c.1085A>C, XM_024448109.1:c.1085A>C, XM_017016482.2:c.949A>C, XM_017016482.1:c.949A>C, XM_011540021.2:c.1085A>C, XM_011540021.1:c.1085A>C, NM_001330178.2:c.990A>C, NM_001330178.1:c.990A>C, NM_001377231.1:c.949A>C, NM_001377242.1:c.990A>C, XM_047425602.1:c.1085A>C, XM_047425603.1:c.949A>C, XM_047425607.1:c.1020A>C, XM_047425604.1:c.949A>C, NM_001377243.1:c.990A>C, XM_047425608.1:c.1020A>C, NM_001377232.1:c.949A>C, NM_001377234.1:c.949A>C, NM_001377244.1:c.990A>C, XM_047425599.1:c.1085A>C, XM_047425610.1:c.1020A>C, XM_047425598.1:c.1085A>C, XM_047425612.1:c.990A>C, XM_047425600.1:c.1085A>C, NM_001377235.1:c.949A>C, NM_001377238.1:c.*89A>C, XM_047425611.1:c.1020A>C, XM_047425613.1:c.990A>C, NR_165160.1:n.1227A>C, NM_001377254.1:c.805A>C, NM_001377237.1:c.*89A>C, NM_001377246.1:c.1020A>C, XM_047425609.1:c.1020A>C, NM_001377248.1:c.1008A>C, XM_047425606.1:c.949A>C, NR_165165.1:n.1186A>C, XM_047425605.1:c.949A>C, NR_165161.1:n.1175A>C, NM_001377240.1:c.990A>C, NM_001377251.1:c.957A>C, NM_001377245.1:c.1020A>C, NM_001377230.1:c.949A>C, NM_001377249.1:c.889A>C, NM_001377256.1:c.864A>C, NM_001377241.1:c.990A>C, NM_001377247.1:c.916A>C, NM_001377250.1:c.981A>C, NR_165164.1:n.1092A>C, NM_001377255.1:c.876A>C, NR_165162.1:n.1040A>C, NM_001377257.1:c.846A>C, NM_001377258.1:c.*81A>C, NM_001377253.1:c.805A>C, NM_001377252.1:c.805A>C, NP_067635.2:p.Asn317His, NP_001001974.1:p.Asn317His, XP_016871967.1:p.Gln362Pro, XP_016871968.1:p.Gln352Pro, XP_024303881.1:p.Asn317His, XP_011538321.1:p.Gln362Pro, XP_011538326.1:p.Gln362Pro, XP_024303875.1:p.Gln362Pro, XP_024303876.1:p.Gln362Pro, XP_011538320.1:p.Gln362Pro, XP_024303878.1:p.Gln362Pro, XP_011538319.1:p.Gln362Pro, XP_011538324.1:p.Gln362Pro, XP_024303882.1:p.Asn317His, XP_024303877.1:p.Gln362Pro, XP_016871971.1:p.Asn317His, XP_011538323.1:p.Gln362Pro, NP_001364160.1:p.Asn317His, XP_047281558.1:p.Gln362Pro, XP_047281559.1:p.Asn317His, XP_047281560.1:p.Asn317His, NP_001364161.1:p.Asn317His, NP_001364163.1:p.Asn317His, XP_047281555.1:p.Gln362Pro, XP_047281554.1:p.Gln362Pro, XP_047281556.1:p.Gln362Pro, NP_001364164.1:p.Asn317His, NP_001364183.1:p.Asn269His, XP_047281562.1:p.Asn317His, XP_047281561.1:p.Asn317His, NP_001364159.1:p.Asn317His, NP_001364178.1:p.Asn297His, NP_001364176.1:p.Asn306His, NP_001364182.1:p.Asn269His, NP_001364181.1:p.Asn269His

                                    18.

                                    rs1466666217 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      10:122424207 (GRCh38)
                                      10:124183723 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:122424206:A:T
                                      Gene:
                                      PLEKHA1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                      HGVS:
                                      NC_000010.11:g.122424207A>T, NC_000010.10:g.124183723A>T, NG_027823.1:g.54630A>T, NM_021622.4:c.690A>T, NM_021622.5:c.690A>T, NM_001001974.2:c.690A>T, NM_001001974.4:c.690A>T, NM_001001974.3:c.690A>T, NM_001195608.1:c.690A>T, NM_001195608.2:c.690A>T, XM_017016478.3:c.690A>T, XM_017016478.2:c.690A>T, XM_017016478.1:c.690A>T, XM_017016479.3:c.690A>T, XM_017016479.2:c.690A>T, XM_017016479.1:c.690A>T, XM_024448113.2:c.690A>T, XM_024448113.1:c.690A>T, XM_011540019.2:c.690A>T, XM_011540019.1:c.690A>T, XM_011540024.2:c.690A>T, XM_011540024.1:c.690A>T, XM_024448107.2:c.690A>T, XM_024448107.1:c.690A>T, XM_024448108.2:c.690A>T, XM_024448108.1:c.690A>T, XM_011540018.2:c.690A>T, XM_011540018.1:c.690A>T, XM_024448110.2:c.690A>T, XM_024448110.1:c.690A>T, XM_011540017.2:c.690A>T, XM_011540017.1:c.690A>T, XM_011540022.2:c.690A>T, XM_011540022.1:c.690A>T, XM_017016483.2:c.690A>T, XM_017016483.1:c.690A>T, XM_017016484.2:c.690A>T, XM_017016484.1:c.690A>T, XM_017016487.2:c.690A>T, XM_017016487.1:c.690A>T, XM_024448114.2:c.690A>T, XM_024448114.1:c.690A>T, XM_024448109.2:c.690A>T, XM_024448109.1:c.690A>T, XM_017016482.2:c.690A>T, XM_017016482.1:c.690A>T, XM_011540021.2:c.690A>T, XM_011540021.1:c.690A>T, NM_001330178.2:c.690A>T, NM_001330178.1:c.690A>T, NM_001377231.1:c.690A>T, NM_001377242.1:c.690A>T, XM_047425602.1:c.690A>T, XM_047425603.1:c.690A>T, XM_047425607.1:c.690A>T, XM_047425604.1:c.690A>T, NM_001377243.1:c.690A>T, XM_047425608.1:c.690A>T, NM_001377232.1:c.690A>T, NM_001377234.1:c.690A>T, NM_001377244.1:c.690A>T, XM_047425599.1:c.690A>T, XM_047425610.1:c.690A>T, XM_047425598.1:c.690A>T, XM_047425612.1:c.690A>T, XM_047425600.1:c.690A>T, NM_001377235.1:c.690A>T, NM_001377238.1:c.690A>T, XM_047425611.1:c.690A>T, XM_047425613.1:c.690A>T, NR_165160.1:n.927A>T, NM_001377254.1:c.546A>T, NM_001377237.1:c.690A>T, NM_001377246.1:c.690A>T, XM_047425609.1:c.690A>T, NM_001377248.1:c.690A>T, XM_047425606.1:c.690A>T, NR_165165.1:n.927A>T, XM_047425605.1:c.690A>T, NR_165161.1:n.875A>T, NM_001377240.1:c.690A>T, NM_001377251.1:c.657A>T, NM_001377245.1:c.690A>T, NM_001377230.1:c.690A>T, NM_001377249.1:c.630A>T, NM_001377256.1:c.564A>T, NM_001377241.1:c.690A>T, NM_001377247.1:c.657A>T, NM_001377250.1:c.681A>T, NR_165164.1:n.833A>T, NM_001377255.1:c.546A>T, NR_165162.1:n.781A>T, NM_001377257.1:c.546A>T, NM_001377258.1:c.690A>T, NM_001377253.1:c.546A>T, NM_001377252.1:c.546A>T, NP_067635.2:p.Glu230Asp, NP_001001974.1:p.Glu230Asp, NP_001182537.1:p.Glu230Asp, XP_016871967.1:p.Glu230Asp, XP_016871968.1:p.Glu230Asp, XP_024303881.1:p.Glu230Asp, XP_011538321.1:p.Glu230Asp, XP_011538326.1:p.Glu230Asp, XP_024303875.1:p.Glu230Asp, XP_024303876.1:p.Glu230Asp, XP_011538320.1:p.Glu230Asp, XP_024303878.1:p.Glu230Asp, XP_011538319.1:p.Glu230Asp, XP_011538324.1:p.Glu230Asp, XP_016871972.1:p.Glu230Asp, XP_016871973.1:p.Glu230Asp, XP_016871976.1:p.Glu230Asp, XP_024303882.1:p.Glu230Asp, XP_024303877.1:p.Glu230Asp, XP_016871971.1:p.Glu230Asp, XP_011538323.1:p.Glu230Asp, NP_001317107.1:p.Glu230Asp, NP_001364160.1:p.Glu230Asp, NP_001364171.1:p.Glu230Asp, XP_047281558.1:p.Glu230Asp, XP_047281559.1:p.Glu230Asp, XP_047281563.1:p.Glu230Asp, XP_047281560.1:p.Glu230Asp, NP_001364172.1:p.Glu230Asp, XP_047281564.1:p.Glu230Asp, NP_001364161.1:p.Glu230Asp, NP_001364163.1:p.Glu230Asp, NP_001364173.1:p.Glu230Asp, XP_047281555.1:p.Glu230Asp, XP_047281566.1:p.Glu230Asp, XP_047281554.1:p.Glu230Asp, XP_047281568.1:p.Glu230Asp, XP_047281556.1:p.Glu230Asp, NP_001364164.1:p.Glu230Asp, NP_001364167.1:p.Glu230Asp, XP_047281567.1:p.Glu230Asp, XP_047281569.1:p.Glu230Asp, NP_001364183.1:p.Glu182Asp, NP_001364166.1:p.Glu230Asp, NP_001364175.1:p.Glu230Asp, XP_047281565.1:p.Glu230Asp, NP_001364177.1:p.Glu230Asp, XP_047281562.1:p.Glu230Asp, XP_047281561.1:p.Glu230Asp, NP_001364169.1:p.Glu230Asp, NP_001364180.1:p.Glu219Asp, NP_001364174.1:p.Glu230Asp, NP_001364159.1:p.Glu230Asp, NP_001364178.1:p.Glu210Asp, NP_001364185.1:p.Glu188Asp, NP_001364170.1:p.Glu230Asp, NP_001364176.1:p.Glu219Asp, NP_001364179.1:p.Glu227Asp, NP_001364184.1:p.Glu182Asp, NP_001364186.1:p.Glu182Asp, NP_001364187.1:p.Glu230Asp, NP_001364182.1:p.Glu182Asp, NP_001364181.1:p.Glu182Asp

                                      19.

                                      rs1465966234 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CAG [Show Flanks]
                                        Chromosome:
                                        10:122412932 (GRCh38)
                                        10:124172449 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:122412932:CAG:CAGCAG
                                        Gene:
                                        PLEKHA1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        CAG=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000010.11:g.122412933_122412935dup, NC_000010.10:g.124172449_124172451dup, NG_027823.1:g.43356_43358dup, NM_021622.4:c.356_358dup, NM_021622.5:c.356_358dup, NM_001001974.2:c.356_358dup, NM_001001974.4:c.356_358dup, NM_001001974.3:c.356_358dup, NM_001195608.1:c.356_358dup, NM_001195608.2:c.356_358dup, XM_017016478.3:c.356_358dup, XM_017016478.2:c.356_358dup, XM_017016478.1:c.356_358dup, XM_017016479.3:c.356_358dup, XM_017016479.2:c.356_358dup, XM_017016479.1:c.356_358dup, XM_024448113.2:c.356_358dup, XM_024448113.1:c.356_358dup, XM_011540019.2:c.356_358dup, XM_011540019.1:c.356_358dup, XM_011540024.2:c.356_358dup, XM_011540024.1:c.356_358dup, XM_024448107.2:c.356_358dup, XM_024448107.1:c.356_358dup, XM_024448108.2:c.356_358dup, XM_024448108.1:c.356_358dup, XM_011540018.2:c.356_358dup, XM_011540018.1:c.356_358dup, XM_024448110.2:c.356_358dup, XM_024448110.1:c.356_358dup, XM_011540017.2:c.356_358dup, XM_011540017.1:c.356_358dup, XM_011540022.2:c.356_358dup, XM_011540022.1:c.356_358dup, XM_017016483.2:c.356_358dup, XM_017016483.1:c.356_358dup, XM_017016484.2:c.356_358dup, XM_017016484.1:c.356_358dup, XM_017016487.2:c.356_358dup, XM_017016487.1:c.356_358dup, XM_024448114.2:c.356_358dup, XM_024448114.1:c.356_358dup, XM_024448109.2:c.356_358dup, XM_024448109.1:c.356_358dup, XM_017016482.2:c.356_358dup, XM_017016482.1:c.356_358dup, XM_011540021.2:c.356_358dup, XM_011540021.1:c.356_358dup, NM_001330178.2:c.356_358dup, NM_001330178.1:c.356_358dup, NM_001377231.1:c.356_358dup, NM_001377242.1:c.356_358dup, XM_047425602.1:c.356_358dup, XM_047425603.1:c.356_358dup, XM_047425607.1:c.356_358dup, XM_047425604.1:c.356_358dup, NM_001377243.1:c.356_358dup, XM_047425608.1:c.356_358dup, NM_001377232.1:c.356_358dup, NM_001377234.1:c.356_358dup, NM_001377244.1:c.356_358dup, XM_047425599.1:c.356_358dup, XM_047425610.1:c.356_358dup, XM_047425598.1:c.356_358dup, XM_047425612.1:c.356_358dup, XM_047425600.1:c.356_358dup, NM_001377235.1:c.356_358dup, NM_001377238.1:c.356_358dup, XM_047425611.1:c.356_358dup, XM_047425613.1:c.356_358dup, NR_165160.1:n.593_595dup, NM_001377254.1:c.212_214dup, NM_001377237.1:c.356_358dup, NM_001377246.1:c.356_358dup, XM_047425609.1:c.356_358dup, NM_001377248.1:c.356_358dup, XM_047425606.1:c.356_358dup, NR_165165.1:n.593_595dup, XM_047425605.1:c.356_358dup, NR_165161.1:n.545_547dup, NM_001377240.1:c.356_358dup, NM_001377251.1:c.323_325dup, NM_001377245.1:c.356_358dup, NM_001377230.1:c.356_358dup, NM_001377249.1:c.296_298dup, NM_001377256.1:c.230_232dup, NM_001377241.1:c.356_358dup, NM_001377247.1:c.323_325dup, NM_001377250.1:c.347_349dup, NR_165164.1:n.499_501dup, NM_001377255.1:c.212_214dup, NR_165162.1:n.447_449dup, NM_001377257.1:c.212_214dup, NM_001377258.1:c.356_358dup, NM_001377253.1:c.212_214dup, NM_001377252.1:c.212_214dup, NP_067635.2:p.Asp120_Ser121insAla, NP_001001974.1:p.Asp120_Ser121insAla, NP_001182537.1:p.Asp120_Ser121insAla, XP_016871967.1:p.Asp120_Ser121insAla, XP_016871968.1:p.Asp120_Ser121insAla, XP_024303881.1:p.Asp120_Ser121insAla, XP_011538321.1:p.Asp120_Ser121insAla, XP_011538326.1:p.Asp120_Ser121insAla, XP_024303875.1:p.Asp120_Ser121insAla, XP_024303876.1:p.Asp120_Ser121insAla, XP_011538320.1:p.Asp120_Ser121insAla, XP_024303878.1:p.Asp120_Ser121insAla, XP_011538319.1:p.Asp120_Ser121insAla, XP_011538324.1:p.Asp120_Ser121insAla, XP_016871972.1:p.Asp120_Ser121insAla, XP_016871973.1:p.Asp120_Ser121insAla, XP_016871976.1:p.Asp120_Ser121insAla, XP_024303882.1:p.Asp120_Ser121insAla, XP_024303877.1:p.Asp120_Ser121insAla, XP_016871971.1:p.Asp120_Ser121insAla, XP_011538323.1:p.Asp120_Ser121insAla, NP_001317107.1:p.Asp120_Ser121insAla, NP_001364160.1:p.Asp120_Ser121insAla, NP_001364171.1:p.Asp120_Ser121insAla, XP_047281558.1:p.Asp120_Ser121insAla, XP_047281559.1:p.Asp120_Ser121insAla, XP_047281563.1:p.Asp120_Ser121insAla, XP_047281560.1:p.Asp120_Ser121insAla, NP_001364172.1:p.Asp120_Ser121insAla, XP_047281564.1:p.Asp120_Ser121insAla, NP_001364161.1:p.Asp120_Ser121insAla, NP_001364163.1:p.Asp120_Ser121insAla, NP_001364173.1:p.Asp120_Ser121insAla, XP_047281555.1:p.Asp120_Ser121insAla, XP_047281566.1:p.Asp120_Ser121insAla, XP_047281554.1:p.Asp120_Ser121insAla, XP_047281568.1:p.Asp120_Ser121insAla, XP_047281556.1:p.Asp120_Ser121insAla, NP_001364164.1:p.Asp120_Ser121insAla, NP_001364167.1:p.Asp120_Ser121insAla, XP_047281567.1:p.Asp120_Ser121insAla, XP_047281569.1:p.Asp120_Ser121insAla, NP_001364183.1:p.Asp72_Ser73insAla, NP_001364166.1:p.Asp120_Ser121insAla, NP_001364175.1:p.Asp120_Ser121insAla, XP_047281565.1:p.Asp120_Ser121insAla, NP_001364177.1:p.Asp120_Ser121insAla, XP_047281562.1:p.Asp120_Ser121insAla, XP_047281561.1:p.Asp120_Ser121insAla, NP_001364169.1:p.Asp120_Ser121insAla, NP_001364180.1:p.Asp109_Ser110insAla, NP_001364174.1:p.Asp120_Ser121insAla, NP_001364159.1:p.Asp120_Ser121insAla, NP_001364178.1:p.Asp100_Ser101insAla, NP_001364185.1:p.Asp78_Ser79insAla, NP_001364170.1:p.Asp120_Ser121insAla, NP_001364176.1:p.Asp109_Ser110insAla, NP_001364179.1:p.Asp117_Ser118insAla, NP_001364184.1:p.Asp72_Ser73insAla, NP_001364186.1:p.Asp72_Ser73insAla, NP_001364187.1:p.Asp120_Ser121insAla, NP_001364182.1:p.Asp72_Ser73insAla, NP_001364181.1:p.Asp72_Ser73insAla

                                        20.

                                        rs1463628391 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          10:122400357 (GRCh38)
                                          10:124159873 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:122400356:T:C
                                          Gene:
                                          PLEKHA1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000010.11:g.122400357T>C, NC_000010.10:g.124159873T>C, NG_027823.1:g.30780T>C, NM_021622.4:c.213T>C, NM_021622.5:c.213T>C, NM_001001974.2:c.213T>C, NM_001001974.4:c.213T>C, NM_001001974.3:c.213T>C, NM_001195608.1:c.213T>C, NM_001195608.2:c.213T>C, XM_017016478.3:c.213T>C, XM_017016478.2:c.213T>C, XM_017016478.1:c.213T>C, XM_017016479.3:c.213T>C, XM_017016479.2:c.213T>C, XM_017016479.1:c.213T>C, XM_024448113.2:c.213T>C, XM_024448113.1:c.213T>C, XM_011540019.2:c.213T>C, XM_011540019.1:c.213T>C, XM_011540024.2:c.213T>C, XM_011540024.1:c.213T>C, XM_024448107.2:c.213T>C, XM_024448107.1:c.213T>C, XM_024448108.2:c.213T>C, XM_024448108.1:c.213T>C, XM_011540018.2:c.213T>C, XM_011540018.1:c.213T>C, XM_024448110.2:c.213T>C, XM_024448110.1:c.213T>C, XM_011540017.2:c.213T>C, XM_011540017.1:c.213T>C, XM_011540022.2:c.213T>C, XM_011540022.1:c.213T>C, XM_017016483.2:c.213T>C, XM_017016483.1:c.213T>C, XM_017016484.2:c.213T>C, XM_017016484.1:c.213T>C, XM_017016487.2:c.213T>C, XM_017016487.1:c.213T>C, XM_024448114.2:c.213T>C, XM_024448114.1:c.213T>C, XM_024448109.2:c.213T>C, XM_024448109.1:c.213T>C, XM_017016482.2:c.213T>C, XM_017016482.1:c.213T>C, XM_011540021.2:c.213T>C, XM_011540021.1:c.213T>C, NM_001330178.2:c.213T>C, NM_001330178.1:c.213T>C, NM_001377231.1:c.213T>C, NM_001377242.1:c.213T>C, XM_047425602.1:c.213T>C, XM_047425603.1:c.213T>C, XM_047425607.1:c.213T>C, XM_047425604.1:c.213T>C, NM_001377243.1:c.213T>C, XM_047425608.1:c.213T>C, NM_001377232.1:c.213T>C, NM_001377234.1:c.213T>C, NM_001377244.1:c.213T>C, XM_047425599.1:c.213T>C, XM_047425610.1:c.213T>C, XM_047425598.1:c.213T>C, XM_047425612.1:c.213T>C, XM_047425600.1:c.213T>C, NM_001377235.1:c.213T>C, NM_001377238.1:c.213T>C, XM_047425611.1:c.213T>C, XM_047425613.1:c.213T>C, NR_165160.1:n.332T>C, NM_001377237.1:c.213T>C, NM_001377246.1:c.213T>C, XM_047425609.1:c.213T>C, NM_001377248.1:c.213T>C, XM_047425606.1:c.213T>C, NR_165165.1:n.332T>C, XM_047425605.1:c.213T>C, NR_165161.1:n.402T>C, NM_001377240.1:c.213T>C, NM_001377251.1:c.213T>C, NM_001377245.1:c.213T>C, NM_001377230.1:c.213T>C, NM_001377249.1:c.153T>C, NM_001377256.1:c.87T>C, NM_001377241.1:c.213T>C, NM_001377247.1:c.213T>C, NM_001377250.1:c.213T>C, NR_165162.1:n.402T>C, NM_001377258.1:c.213T>C

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