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Items: 1 to 20 of 1275

1.

rs1490985263 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    11:16802975 (GRCh38)
    11:16824522 (GRCh37)
    Canonical SPDI:
    NC_000011.10:16802974:G:T
    Gene:
    PLEKHA7 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    HGVS:
    NC_000011.10:g.16802975G>T, NC_000011.9:g.16824522G>T, NM_175058.5:c.2154C>A, NM_175058.4:c.2154C>A, XM_017017241.3:c.2355C>A, XM_017017241.2:c.2355C>A, XM_017017241.1:c.2355C>A, XM_017017242.3:c.2235C>A, XM_017017242.2:c.2235C>A, XM_017017242.1:c.2235C>A, XM_024448358.2:c.2355C>A, XM_024448358.1:c.2355C>A, XM_024448364.2:c.2154C>A, NM_001329630.2:c.2154C>A, NM_001329630.1:c.2154C>A, XM_024448366.2:c.2037C>A, XM_024448366.1:c.2037C>A, XM_024448367.2:c.2037C>A, XM_024448367.1:c.2037C>A, XM_024448369.2:c.2037C>A, XM_024448369.1:c.2037C>A, NM_001329631.2:c.2154C>A, NM_001329631.1:c.2154C>A, XM_024448365.2:c.2073C>A, XM_024448365.1:c.2073C>A, XM_024448361.2:c.2217C>A, XM_024448361.1:c.2217C>A, XM_024448362.2:c.2181C>A, XM_024448362.1:c.2181C>A, XM_024448357.2:c.2355C>A, XM_024448357.1:c.2355C>A, XM_024448370.2:c.2355C>A, XM_024448370.1:c.2355C>A, XM_047426433.1:c.2226C>A, XM_047426435.1:c.2136C>A, XM_047426429.1:c.2274C>A, XM_047426439.1:c.2016C>A, XM_047426430.1:c.2235C>A, NM_001410960.1:c.2154C>A, XM_047426436.1:c.2154C>A, XM_047426445.1:c.1872C>A, XM_047426441.1:c.2154C>A, XM_047426440.1:c.2274C>A, XM_047426442.1:c.2016C>A, XM_047426443.1:c.2016C>A, XM_047426446.1:c.1836C>A, XM_047426447.1:c.2016C>A, XM_047426444.1:c.2154C>A, XM_047426438.1:c.2355C>A, XM_047426426.1:c.2355C>A, XM_047426434.1:c.2097C>A, XM_047426427.1:c.2274C>A, XM_047426437.1:c.2016C>A, XM_047426428.1:c.2235C>A, XM_047426431.1:c.2154C>A, XM_047426432.1:c.2154C>A, XR_007062454.1:n.2368C>A, NP_778228.3:p.Asn718Lys, XP_016872730.1:p.Asn785Lys, XP_016872731.1:p.Asn745Lys, XP_024304126.1:p.Asn785Lys, XP_024304132.1:p.Asn718Lys, NP_001316559.1:p.Asn718Lys, XP_024304134.1:p.Asn679Lys, XP_024304135.1:p.Asn679Lys, XP_024304137.1:p.Asn679Lys, NP_001316560.1:p.Asn718Lys, XP_024304133.1:p.Asn691Lys, XP_024304129.1:p.Asn739Lys, XP_024304130.1:p.Asn727Lys, XP_024304125.1:p.Asn785Lys, XP_024304138.1:p.Asn785Lys, XP_047282389.1:p.Asn742Lys, XP_047282391.1:p.Asn712Lys, XP_047282385.1:p.Asn758Lys, XP_047282395.1:p.Asn672Lys, XP_047282386.1:p.Asn745Lys, XP_047282392.1:p.Asn718Lys, XP_047282401.1:p.Asn624Lys, XP_047282397.1:p.Asn718Lys, XP_047282396.1:p.Asn758Lys, XP_047282398.1:p.Asn672Lys, XP_047282399.1:p.Asn672Lys, XP_047282402.1:p.Asn612Lys, XP_047282403.1:p.Asn672Lys, XP_047282400.1:p.Asn718Lys, XP_047282394.1:p.Asn785Lys, XP_047282382.1:p.Asn785Lys, XP_047282390.1:p.Asn699Lys, XP_047282383.1:p.Asn758Lys, XP_047282393.1:p.Asn672Lys, XP_047282384.1:p.Asn745Lys, XP_047282387.1:p.Asn718Lys, XP_047282388.1:p.Asn718Lys

    2.

    rs1490844234 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      11:16816814 (GRCh38)
      11:16838361 (GRCh37)
      Canonical SPDI:
      NC_000011.10:16816813:C:T
      Gene:
      PLEKHA7 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.16816814C>T, NC_000011.9:g.16838361C>T, NM_175058.5:c.1852G>A, NM_175058.4:c.1852G>A, XM_017017241.3:c.1852G>A, XM_017017241.2:c.1852G>A, XM_017017241.1:c.1852G>A, XM_017017242.3:c.1852G>A, XM_017017242.2:c.1852G>A, XM_017017242.1:c.1852G>A, XM_024448358.2:c.1852G>A, XM_024448358.1:c.1852G>A, XM_024448364.2:c.1852G>A, NM_001329630.2:c.1852G>A, NM_001329630.1:c.1852G>A, XM_024448366.2:c.1534G>A, XM_024448366.1:c.1534G>A, XM_024448367.2:c.1534G>A, XM_024448367.1:c.1534G>A, XM_024448369.2:c.1534G>A, XM_024448369.1:c.1534G>A, NM_001329631.2:c.1852G>A, NM_001329631.1:c.1852G>A, XM_024448365.2:c.1570G>A, XM_024448365.1:c.1570G>A, XM_024448361.2:c.1714G>A, XM_024448361.1:c.1714G>A, XM_024448362.2:c.1678G>A, XM_024448362.1:c.1678G>A, XM_024448357.2:c.1852G>A, XM_024448357.1:c.1852G>A, XM_024448370.2:c.1852G>A, XM_024448370.1:c.1852G>A, XM_047426433.1:c.1723G>A, XM_047426435.1:c.1714G>A, XM_047426429.1:c.1852G>A, XM_047426439.1:c.1714G>A, XM_047426430.1:c.1852G>A, NM_001410960.1:c.1852G>A, XM_047426436.1:c.1852G>A, XM_047426445.1:c.1570G>A, XM_047426441.1:c.1852G>A, XM_047426440.1:c.1852G>A, XM_047426442.1:c.1714G>A, XM_047426443.1:c.1714G>A, XM_047426446.1:c.1534G>A, XM_047426447.1:c.1714G>A, XM_047426444.1:c.1852G>A, XM_047426438.1:c.1852G>A, XM_047426426.1:c.1852G>A, XM_047426434.1:c.1714G>A, XM_047426427.1:c.1852G>A, XM_047426437.1:c.1714G>A, XM_047426428.1:c.1852G>A, XM_047426431.1:c.1852G>A, XM_047426432.1:c.1852G>A, XR_007062454.1:n.1865G>A, NP_778228.3:p.Gly618Ser, XP_016872730.1:p.Gly618Ser, XP_016872731.1:p.Gly618Ser, XP_024304126.1:p.Gly618Ser, XP_024304132.1:p.Gly618Ser, NP_001316559.1:p.Gly618Ser, XP_024304134.1:p.Gly512Ser, XP_024304135.1:p.Gly512Ser, XP_024304137.1:p.Gly512Ser, NP_001316560.1:p.Gly618Ser, XP_024304133.1:p.Gly524Ser, XP_024304129.1:p.Gly572Ser, XP_024304130.1:p.Gly560Ser, XP_024304125.1:p.Gly618Ser, XP_024304138.1:p.Gly618Ser, XP_047282389.1:p.Gly575Ser, XP_047282391.1:p.Gly572Ser, XP_047282385.1:p.Gly618Ser, XP_047282395.1:p.Gly572Ser, XP_047282386.1:p.Gly618Ser, XP_047282392.1:p.Gly618Ser, XP_047282401.1:p.Gly524Ser, XP_047282397.1:p.Gly618Ser, XP_047282396.1:p.Gly618Ser, XP_047282398.1:p.Gly572Ser, XP_047282399.1:p.Gly572Ser, XP_047282402.1:p.Gly512Ser, XP_047282403.1:p.Gly572Ser, XP_047282400.1:p.Gly618Ser, XP_047282394.1:p.Gly618Ser, XP_047282382.1:p.Gly618Ser, XP_047282390.1:p.Gly572Ser, XP_047282383.1:p.Gly618Ser, XP_047282393.1:p.Gly572Ser, XP_047282384.1:p.Gly618Ser, XP_047282387.1:p.Gly618Ser, XP_047282388.1:p.Gly618Ser

      3.

      rs1490353002 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        11:16817085 (GRCh38)
        11:16838632 (GRCh37)
        Canonical SPDI:
        NC_000011.10:16817084:C:T
        Gene:
        PLEKHA7 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.16817085C>T, NC_000011.9:g.16838632C>T, NM_175058.5:c.1581G>A, NM_175058.4:c.1581G>A, XM_017017241.3:c.1581G>A, XM_017017241.2:c.1581G>A, XM_017017241.1:c.1581G>A, XM_017017242.3:c.1581G>A, XM_017017242.2:c.1581G>A, XM_017017242.1:c.1581G>A, XM_024448358.2:c.1581G>A, XM_024448358.1:c.1581G>A, XM_024448364.2:c.1581G>A, NM_001329630.2:c.1581G>A, NM_001329630.1:c.1581G>A, XM_024448366.2:c.1263G>A, XM_024448366.1:c.1263G>A, XM_024448367.2:c.1263G>A, XM_024448367.1:c.1263G>A, XM_024448369.2:c.1263G>A, XM_024448369.1:c.1263G>A, NM_001329631.2:c.1581G>A, NM_001329631.1:c.1581G>A, XM_024448365.2:c.1299G>A, XM_024448365.1:c.1299G>A, XM_024448361.2:c.1443G>A, XM_024448361.1:c.1443G>A, XM_024448362.2:c.1407G>A, XM_024448362.1:c.1407G>A, XM_024448357.2:c.1581G>A, XM_024448357.1:c.1581G>A, XM_024448370.2:c.1581G>A, XM_024448370.1:c.1581G>A, XM_047426433.1:c.1452G>A, XM_047426435.1:c.1443G>A, XM_047426429.1:c.1581G>A, XM_047426439.1:c.1443G>A, XM_047426430.1:c.1581G>A, NM_001410960.1:c.1581G>A, XM_047426436.1:c.1581G>A, XM_047426445.1:c.1299G>A, XM_047426441.1:c.1581G>A, XM_047426440.1:c.1581G>A, XM_047426442.1:c.1443G>A, XM_047426443.1:c.1443G>A, XM_047426446.1:c.1263G>A, XM_047426447.1:c.1443G>A, XM_047426444.1:c.1581G>A, XM_047426438.1:c.1581G>A, XM_047426426.1:c.1581G>A, XM_047426434.1:c.1443G>A, XM_047426427.1:c.1581G>A, XM_047426437.1:c.1443G>A, XM_047426428.1:c.1581G>A, XM_047426431.1:c.1581G>A, XM_047426432.1:c.1581G>A, XR_007062454.1:n.1594G>A

        4.

        rs1489726812 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          11:16794692 (GRCh38)
          11:16816239 (GRCh37)
          Canonical SPDI:
          NC_000011.10:16794691:A:G
          Gene:
          PLEKHA7 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
          Validated:
          by frequency,by cluster
          MAF:
          G=0.00004/1 (TOMMO)
          HGVS:
          NC_000011.10:g.16794692A>G, NC_000011.9:g.16816239A>G, NM_175058.5:c.2541T>C, NM_175058.4:c.2541T>C, XM_017017241.3:c.2742T>C, XM_017017241.2:c.2742T>C, XM_017017241.1:c.2742T>C, XM_017017242.3:c.2622T>C, XM_017017242.2:c.2622T>C, XM_017017242.1:c.2622T>C, XM_024448358.2:c.2742T>C, XM_024448358.1:c.2742T>C, XM_024448364.2:c.2541T>C, NM_001329630.2:c.2541T>C, NM_001329630.1:c.2541T>C, XM_024448366.2:c.2424T>C, XM_024448366.1:c.2424T>C, XM_024448367.2:c.2424T>C, XM_024448367.1:c.2424T>C, XM_024448369.2:c.2424T>C, XM_024448369.1:c.2424T>C, NM_001329631.2:c.2541T>C, NM_001329631.1:c.2541T>C, XM_024448365.2:c.2460T>C, XM_024448365.1:c.2460T>C, XM_024448361.2:c.2604T>C, XM_024448361.1:c.2604T>C, XM_024448362.2:c.2568T>C, XM_024448362.1:c.2568T>C, XM_024448357.2:c.2742T>C, XM_024448357.1:c.2742T>C, XM_047426433.1:c.2613T>C, XM_047426435.1:c.2523T>C, XM_047426429.1:c.2661T>C, XM_047426439.1:c.2403T>C, XM_047426430.1:c.2622T>C, NM_001410960.1:c.2541T>C, XM_047426436.1:c.2541T>C, XM_047426445.1:c.2259T>C, XM_047426440.1:c.2661T>C, XM_047426442.1:c.2403T>C, XM_047426443.1:c.2403T>C, XM_047426446.1:c.2223T>C, XM_047426438.1:c.2742T>C, XM_047426426.1:c.2742T>C, XM_047426434.1:c.2484T>C, XM_047426427.1:c.2661T>C, XM_047426437.1:c.2403T>C, XM_047426428.1:c.2622T>C, XM_047426431.1:c.2541T>C, XM_047426432.1:c.2541T>C, XR_007062454.1:n.2755T>C

          5.

          rs1489084136 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>A,C [Show Flanks]
            Chromosome:
            11:16855903 (GRCh38)
            11:16877450 (GRCh37)
            Canonical SPDI:
            NC_000011.10:16855902:T:A,NC_000011.10:16855902:T:C
            Gene:
            PLEKHA7 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000011.10:g.16855903T>A, NC_000011.10:g.16855903T>C, NC_000011.9:g.16877450T>A, NC_000011.9:g.16877450T>C, NM_175058.5:c.317A>T, NM_175058.5:c.317A>G, NM_175058.4:c.317A>T, NM_175058.4:c.317A>G, XM_017017241.3:c.317A>T, XM_017017241.3:c.317A>G, XM_017017241.2:c.317A>T, XM_017017241.2:c.317A>G, XM_017017241.1:c.317A>T, XM_017017241.1:c.317A>G, XM_017017242.3:c.317A>T, XM_017017242.3:c.317A>G, XM_017017242.2:c.317A>T, XM_017017242.2:c.317A>G, XM_017017242.1:c.317A>T, XM_017017242.1:c.317A>G, XM_024448358.2:c.317A>T, XM_024448358.2:c.317A>G, XM_024448358.1:c.317A>T, XM_024448358.1:c.317A>G, XM_024448364.2:c.317A>T, XM_024448364.2:c.317A>G, NM_001329630.2:c.317A>T, NM_001329630.2:c.317A>G, NM_001329630.1:c.317A>T, NM_001329630.1:c.317A>G, XM_024448366.2:c.-2A>T, XM_024448366.2:c.-2A>G, XM_024448366.1:c.-2A>T, XM_024448366.1:c.-2A>G, XM_024448367.2:c.-2A>T, XM_024448367.2:c.-2A>G, XM_024448367.1:c.-2A>T, XM_024448367.1:c.-2A>G, XM_024448369.2:c.-2A>T, XM_024448369.2:c.-2A>G, XM_024448369.1:c.-2A>T, XM_024448369.1:c.-2A>G, NM_001329631.2:c.317A>T, NM_001329631.2:c.317A>G, NM_001329631.1:c.317A>T, NM_001329631.1:c.317A>G, XM_024448365.2:c.35A>T, XM_024448365.2:c.35A>G, XM_024448365.1:c.35A>T, XM_024448365.1:c.35A>G, XM_024448361.2:c.179A>T, XM_024448361.2:c.179A>G, XM_024448361.1:c.179A>T, XM_024448361.1:c.179A>G, XM_024448362.2:c.143A>T, XM_024448362.2:c.143A>G, XM_024448362.1:c.143A>T, XM_024448362.1:c.143A>G, XM_024448357.2:c.317A>T, XM_024448357.2:c.317A>G, XM_024448357.1:c.317A>T, XM_024448357.1:c.317A>G, XM_024448370.2:c.317A>T, XM_024448370.2:c.317A>G, XM_024448370.1:c.317A>T, XM_024448370.1:c.317A>G, XM_047426433.1:c.188A>T, XM_047426433.1:c.188A>G, XM_047426435.1:c.179A>T, XM_047426435.1:c.179A>G, XM_047426429.1:c.317A>T, XM_047426429.1:c.317A>G, XM_047426439.1:c.179A>T, XM_047426439.1:c.179A>G, XM_047426430.1:c.317A>T, XM_047426430.1:c.317A>G, NM_001410960.1:c.317A>T, NM_001410960.1:c.317A>G, XM_047426436.1:c.317A>T, XM_047426436.1:c.317A>G, XM_047426445.1:c.35A>T, XM_047426445.1:c.35A>G, XM_047426441.1:c.317A>T, XM_047426441.1:c.317A>G, XM_047426440.1:c.317A>T, XM_047426440.1:c.317A>G, XM_047426442.1:c.179A>T, XM_047426442.1:c.179A>G, XM_047426443.1:c.179A>T, XM_047426443.1:c.179A>G, XM_047426446.1:c.-2A>T, XM_047426446.1:c.-2A>G, XM_047426447.1:c.179A>T, XM_047426447.1:c.179A>G, XM_047426444.1:c.317A>T, XM_047426444.1:c.317A>G, XM_047426438.1:c.317A>T, XM_047426438.1:c.317A>G, XM_047426426.1:c.317A>T, XM_047426426.1:c.317A>G, XM_047426434.1:c.179A>T, XM_047426434.1:c.179A>G, XM_047426427.1:c.317A>T, XM_047426427.1:c.317A>G, XM_047426437.1:c.179A>T, XM_047426437.1:c.179A>G, XM_047426428.1:c.317A>T, XM_047426428.1:c.317A>G, XM_047426431.1:c.317A>T, XM_047426431.1:c.317A>G, XM_047426432.1:c.317A>T, XM_047426432.1:c.317A>G, XR_007062454.1:n.330A>T, XR_007062454.1:n.330A>G, NP_778228.3:p.His106Leu, NP_778228.3:p.His106Arg, XP_016872730.1:p.His106Leu, XP_016872730.1:p.His106Arg, XP_016872731.1:p.His106Leu, XP_016872731.1:p.His106Arg, XP_024304126.1:p.His106Leu, XP_024304126.1:p.His106Arg, XP_024304132.1:p.His106Leu, XP_024304132.1:p.His106Arg, NP_001316559.1:p.His106Leu, NP_001316559.1:p.His106Arg, NP_001316560.1:p.His106Leu, NP_001316560.1:p.His106Arg, XP_024304133.1:p.His12Leu, XP_024304133.1:p.His12Arg, XP_024304129.1:p.His60Leu, XP_024304129.1:p.His60Arg, XP_024304130.1:p.His48Leu, XP_024304130.1:p.His48Arg, XP_024304125.1:p.His106Leu, XP_024304125.1:p.His106Arg, XP_024304138.1:p.His106Leu, XP_024304138.1:p.His106Arg, XP_047282389.1:p.His63Leu, XP_047282389.1:p.His63Arg, XP_047282391.1:p.His60Leu, XP_047282391.1:p.His60Arg, XP_047282385.1:p.His106Leu, XP_047282385.1:p.His106Arg, XP_047282395.1:p.His60Leu, XP_047282395.1:p.His60Arg, XP_047282386.1:p.His106Leu, XP_047282386.1:p.His106Arg, XP_047282392.1:p.His106Leu, XP_047282392.1:p.His106Arg, XP_047282401.1:p.His12Leu, XP_047282401.1:p.His12Arg, XP_047282397.1:p.His106Leu, XP_047282397.1:p.His106Arg, XP_047282396.1:p.His106Leu, XP_047282396.1:p.His106Arg, XP_047282398.1:p.His60Leu, XP_047282398.1:p.His60Arg, XP_047282399.1:p.His60Leu, XP_047282399.1:p.His60Arg, XP_047282403.1:p.His60Leu, XP_047282403.1:p.His60Arg, XP_047282400.1:p.His106Leu, XP_047282400.1:p.His106Arg, XP_047282394.1:p.His106Leu, XP_047282394.1:p.His106Arg, XP_047282382.1:p.His106Leu, XP_047282382.1:p.His106Arg, XP_047282390.1:p.His60Leu, XP_047282390.1:p.His60Arg, XP_047282383.1:p.His106Leu, XP_047282383.1:p.His106Arg, XP_047282393.1:p.His60Leu, XP_047282393.1:p.His60Arg, XP_047282384.1:p.His106Leu, XP_047282384.1:p.His106Arg, XP_047282387.1:p.His106Leu, XP_047282387.1:p.His106Arg, XP_047282388.1:p.His106Leu, XP_047282388.1:p.His106Arg

            6.

            rs1488523682 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              11:16854929 (GRCh38)
              11:16876476 (GRCh37)
              Canonical SPDI:
              NC_000011.10:16854928:G:A,NC_000011.10:16854928:G:T
              Gene:
              PLEKHA7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000011.10:g.16854929G>A, NC_000011.10:g.16854929G>T, NC_000011.9:g.16876476G>A, NC_000011.9:g.16876476G>T, NM_175058.5:c.482C>T, NM_175058.5:c.482C>A, NM_175058.4:c.482C>T, NM_175058.4:c.482C>A, XM_017017241.3:c.482C>T, XM_017017241.3:c.482C>A, XM_017017241.2:c.482C>T, XM_017017241.2:c.482C>A, XM_017017241.1:c.482C>T, XM_017017241.1:c.482C>A, XM_017017242.3:c.482C>T, XM_017017242.3:c.482C>A, XM_017017242.2:c.482C>T, XM_017017242.2:c.482C>A, XM_017017242.1:c.482C>T, XM_017017242.1:c.482C>A, XM_024448358.2:c.482C>T, XM_024448358.2:c.482C>A, XM_024448358.1:c.482C>T, XM_024448358.1:c.482C>A, XM_024448364.2:c.482C>T, XM_024448364.2:c.482C>A, NM_001329630.2:c.482C>T, NM_001329630.2:c.482C>A, NM_001329630.1:c.482C>T, NM_001329630.1:c.482C>A, XM_024448366.2:c.164C>T, XM_024448366.2:c.164C>A, XM_024448366.1:c.164C>T, XM_024448366.1:c.164C>A, XM_024448367.2:c.164C>T, XM_024448367.2:c.164C>A, XM_024448367.1:c.164C>T, XM_024448367.1:c.164C>A, XM_024448369.2:c.164C>T, XM_024448369.2:c.164C>A, XM_024448369.1:c.164C>T, XM_024448369.1:c.164C>A, NM_001329631.2:c.482C>T, NM_001329631.2:c.482C>A, NM_001329631.1:c.482C>T, NM_001329631.1:c.482C>A, XM_024448365.2:c.200C>T, XM_024448365.2:c.200C>A, XM_024448365.1:c.200C>T, XM_024448365.1:c.200C>A, XM_024448361.2:c.344C>T, XM_024448361.2:c.344C>A, XM_024448361.1:c.344C>T, XM_024448361.1:c.344C>A, XM_024448362.2:c.308C>T, XM_024448362.2:c.308C>A, XM_024448362.1:c.308C>T, XM_024448362.1:c.308C>A, XM_024448357.2:c.482C>T, XM_024448357.2:c.482C>A, XM_024448357.1:c.482C>T, XM_024448357.1:c.482C>A, XM_024448370.2:c.482C>T, XM_024448370.2:c.482C>A, XM_024448370.1:c.482C>T, XM_024448370.1:c.482C>A, XM_047426433.1:c.353C>T, XM_047426433.1:c.353C>A, XM_047426435.1:c.344C>T, XM_047426435.1:c.344C>A, XM_047426429.1:c.482C>T, XM_047426429.1:c.482C>A, XM_047426439.1:c.344C>T, XM_047426439.1:c.344C>A, XM_047426430.1:c.482C>T, XM_047426430.1:c.482C>A, NM_001410960.1:c.482C>T, NM_001410960.1:c.482C>A, XM_047426436.1:c.482C>T, XM_047426436.1:c.482C>A, XM_047426445.1:c.200C>T, XM_047426445.1:c.200C>A, XM_047426441.1:c.482C>T, XM_047426441.1:c.482C>A, XM_047426440.1:c.482C>T, XM_047426440.1:c.482C>A, XM_047426442.1:c.344C>T, XM_047426442.1:c.344C>A, XM_047426443.1:c.344C>T, XM_047426443.1:c.344C>A, XM_047426446.1:c.164C>T, XM_047426446.1:c.164C>A, XM_047426447.1:c.344C>T, XM_047426447.1:c.344C>A, XM_047426444.1:c.482C>T, XM_047426444.1:c.482C>A, XM_047426438.1:c.482C>T, XM_047426438.1:c.482C>A, XM_047426426.1:c.482C>T, XM_047426426.1:c.482C>A, XM_047426434.1:c.344C>T, XM_047426434.1:c.344C>A, XM_047426427.1:c.482C>T, XM_047426427.1:c.482C>A, XM_047426437.1:c.344C>T, XM_047426437.1:c.344C>A, XM_047426428.1:c.482C>T, XM_047426428.1:c.482C>A, XM_047426431.1:c.482C>T, XM_047426431.1:c.482C>A, XM_047426432.1:c.482C>T, XM_047426432.1:c.482C>A, XR_007062454.1:n.495C>T, XR_007062454.1:n.495C>A, NP_778228.3:p.Pro161Leu, NP_778228.3:p.Pro161His, XP_016872730.1:p.Pro161Leu, XP_016872730.1:p.Pro161His, XP_016872731.1:p.Pro161Leu, XP_016872731.1:p.Pro161His, XP_024304126.1:p.Pro161Leu, XP_024304126.1:p.Pro161His, XP_024304132.1:p.Pro161Leu, XP_024304132.1:p.Pro161His, NP_001316559.1:p.Pro161Leu, NP_001316559.1:p.Pro161His, XP_024304134.1:p.Pro55Leu, XP_024304134.1:p.Pro55His, XP_024304135.1:p.Pro55Leu, XP_024304135.1:p.Pro55His, XP_024304137.1:p.Pro55Leu, XP_024304137.1:p.Pro55His, NP_001316560.1:p.Pro161Leu, NP_001316560.1:p.Pro161His, XP_024304133.1:p.Pro67Leu, XP_024304133.1:p.Pro67His, XP_024304129.1:p.Pro115Leu, XP_024304129.1:p.Pro115His, XP_024304130.1:p.Pro103Leu, XP_024304130.1:p.Pro103His, XP_024304125.1:p.Pro161Leu, XP_024304125.1:p.Pro161His, XP_024304138.1:p.Pro161Leu, XP_024304138.1:p.Pro161His, XP_047282389.1:p.Pro118Leu, XP_047282389.1:p.Pro118His, XP_047282391.1:p.Pro115Leu, XP_047282391.1:p.Pro115His, XP_047282385.1:p.Pro161Leu, XP_047282385.1:p.Pro161His, XP_047282395.1:p.Pro115Leu, XP_047282395.1:p.Pro115His, XP_047282386.1:p.Pro161Leu, XP_047282386.1:p.Pro161His, XP_047282392.1:p.Pro161Leu, XP_047282392.1:p.Pro161His, XP_047282401.1:p.Pro67Leu, XP_047282401.1:p.Pro67His, XP_047282397.1:p.Pro161Leu, XP_047282397.1:p.Pro161His, XP_047282396.1:p.Pro161Leu, XP_047282396.1:p.Pro161His, XP_047282398.1:p.Pro115Leu, XP_047282398.1:p.Pro115His, XP_047282399.1:p.Pro115Leu, XP_047282399.1:p.Pro115His, XP_047282402.1:p.Pro55Leu, XP_047282402.1:p.Pro55His, XP_047282403.1:p.Pro115Leu, XP_047282403.1:p.Pro115His, XP_047282400.1:p.Pro161Leu, XP_047282400.1:p.Pro161His, XP_047282394.1:p.Pro161Leu, XP_047282394.1:p.Pro161His, XP_047282382.1:p.Pro161Leu, XP_047282382.1:p.Pro161His, XP_047282390.1:p.Pro115Leu, XP_047282390.1:p.Pro115His, XP_047282383.1:p.Pro161Leu, XP_047282383.1:p.Pro161His, XP_047282393.1:p.Pro115Leu, XP_047282393.1:p.Pro115His, XP_047282384.1:p.Pro161Leu, XP_047282384.1:p.Pro161His, XP_047282387.1:p.Pro161Leu, XP_047282387.1:p.Pro161His, XP_047282388.1:p.Pro161Leu, XP_047282388.1:p.Pro161His

              7.

              rs1488028860 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                11:16815230 (GRCh38)
                11:16836777 (GRCh37)
                Canonical SPDI:
                NC_000011.10:16815229:C:T
                Gene:
                PLEKHA7 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000007/1 (GnomAD)
                T=0.000011/3 (TOPMED)
                HGVS:
                NC_000011.10:g.16815230C>T, NC_000011.9:g.16836777C>T, XM_017017241.3:c.2018G>A, XM_017017241.2:c.2018G>A, XM_017017241.1:c.2018G>A, XM_024448358.2:c.2018G>A, XM_024448358.1:c.2018G>A, XM_024448366.2:c.1700G>A, XM_024448366.1:c.1700G>A, XM_024448367.2:c.1700G>A, XM_024448367.1:c.1700G>A, XM_024448369.2:c.1700G>A, XM_024448369.1:c.1700G>A, XM_024448365.2:c.1736G>A, XM_024448365.1:c.1736G>A, XM_024448361.2:c.1880G>A, XM_024448361.1:c.1880G>A, XM_024448362.2:c.1844G>A, XM_024448362.1:c.1844G>A, XM_024448357.2:c.2018G>A, XM_024448357.1:c.2018G>A, XM_024448370.2:c.2018G>A, XM_024448370.1:c.2018G>A, XM_047426433.1:c.1889G>A, XM_047426435.1:c.1880G>A, XM_047426429.1:c.2018G>A, XM_047426440.1:c.2018G>A, XM_047426438.1:c.2018G>A, XM_047426426.1:c.2018G>A, XM_047426427.1:c.2018G>A, XR_007062454.1:n.2031G>A, XP_016872730.1:p.Arg673Gln, XP_024304126.1:p.Arg673Gln, XP_024304134.1:p.Arg567Gln, XP_024304135.1:p.Arg567Gln, XP_024304137.1:p.Arg567Gln, XP_024304133.1:p.Arg579Gln, XP_024304129.1:p.Arg627Gln, XP_024304130.1:p.Arg615Gln, XP_024304125.1:p.Arg673Gln, XP_024304138.1:p.Arg673Gln, XP_047282389.1:p.Arg630Gln, XP_047282391.1:p.Arg627Gln, XP_047282385.1:p.Arg673Gln, XP_047282396.1:p.Arg673Gln, XP_047282394.1:p.Arg673Gln, XP_047282382.1:p.Arg673Gln, XP_047282383.1:p.Arg673Gln

                8.

                rs1487639440 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:16807177 (GRCh38)
                  11:16828724 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:16807176:C:T
                  Gene:
                  PLEKHA7 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000011.10:g.16807177C>T, NC_000011.9:g.16828724C>T, XM_017017241.3:c.2175G>A, XM_017017241.2:c.2175G>A, XM_017017241.1:c.2175G>A, XM_017017242.3:c.2055G>A, XM_017017242.2:c.2055G>A, XM_017017242.1:c.2055G>A, XM_024448358.2:c.2175G>A, XM_024448358.1:c.2175G>A, XM_024448366.2:c.1857G>A, XM_024448366.1:c.1857G>A, XM_024448367.2:c.1857G>A, XM_024448367.1:c.1857G>A, XM_024448369.2:c.1857G>A, XM_024448369.1:c.1857G>A, XM_024448365.2:c.1893G>A, XM_024448365.1:c.1893G>A, XM_024448361.2:c.2037G>A, XM_024448361.1:c.2037G>A, XM_024448362.2:c.2001G>A, XM_024448362.1:c.2001G>A, XM_024448357.2:c.2175G>A, XM_024448357.1:c.2175G>A, XM_024448370.2:c.2175G>A, XM_024448370.1:c.2175G>A, XM_047426433.1:c.2046G>A, XM_047426430.1:c.2055G>A, XM_047426438.1:c.2175G>A, XM_047426426.1:c.2175G>A, XM_047426434.1:c.1917G>A, XM_047426428.1:c.2055G>A, XR_007062454.1:n.2188G>A

                  9.

                  rs1487375279 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    11:16852344 (GRCh38)
                    11:16873891 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:16852343:C:G
                    Gene:
                    PLEKHA7 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000011.10:g.16852344C>G, NC_000011.9:g.16873891C>G, NM_175058.5:c.534G>C, NM_175058.4:c.534G>C, XM_017017241.3:c.534G>C, XM_017017241.2:c.534G>C, XM_017017241.1:c.534G>C, XM_017017242.3:c.534G>C, XM_017017242.2:c.534G>C, XM_017017242.1:c.534G>C, XM_024448358.2:c.534G>C, XM_024448358.1:c.534G>C, XM_024448364.2:c.534G>C, NM_001329630.2:c.534G>C, NM_001329630.1:c.534G>C, XM_024448366.2:c.216G>C, XM_024448366.1:c.216G>C, XM_024448367.2:c.216G>C, XM_024448367.1:c.216G>C, XM_024448369.2:c.216G>C, XM_024448369.1:c.216G>C, NM_001329631.2:c.534G>C, NM_001329631.1:c.534G>C, XM_024448365.2:c.252G>C, XM_024448365.1:c.252G>C, XM_024448361.2:c.396G>C, XM_024448361.1:c.396G>C, XM_024448362.2:c.360G>C, XM_024448362.1:c.360G>C, XM_024448357.2:c.534G>C, XM_024448357.1:c.534G>C, XM_024448370.2:c.534G>C, XM_024448370.1:c.534G>C, XM_047426433.1:c.405G>C, XM_047426435.1:c.396G>C, XM_047426429.1:c.534G>C, XM_047426439.1:c.396G>C, XM_047426430.1:c.534G>C, NM_001410960.1:c.534G>C, XM_047426436.1:c.534G>C, XM_047426445.1:c.252G>C, XM_047426441.1:c.534G>C, XM_047426440.1:c.534G>C, XM_047426442.1:c.396G>C, XM_047426443.1:c.396G>C, XM_047426446.1:c.216G>C, XM_047426447.1:c.396G>C, XM_047426444.1:c.534G>C, XM_047426438.1:c.534G>C, XM_047426426.1:c.534G>C, XM_047426434.1:c.396G>C, XM_047426427.1:c.534G>C, XM_047426437.1:c.396G>C, XM_047426428.1:c.534G>C, XM_047426431.1:c.534G>C, XM_047426432.1:c.534G>C, XR_007062454.1:n.547G>C

                    10.

                    rs1486449677 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      11:17014136 (GRCh38)
                      11:17035683 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:17014135:A:G
                      Gene:
                      PLEKHA7 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000425/7 (TOMMO)
                      G=0.001392/4 (KOREAN)
                      HGVS:
                      NC_000011.10:g.17014136A>G, NC_000011.9:g.17035683A>G, NM_175058.5:c.152T>C, NM_175058.4:c.152T>C, XM_017017241.3:c.152T>C, XM_017017241.2:c.152T>C, XM_017017241.1:c.152T>C, XM_017017242.3:c.152T>C, XM_017017242.2:c.152T>C, XM_017017242.1:c.152T>C, XM_024448358.2:c.152T>C, XM_024448358.1:c.152T>C, XM_024448364.2:c.152T>C, NM_001329630.2:c.152T>C, NM_001329630.1:c.152T>C, NM_001329631.2:c.152T>C, NM_001329631.1:c.152T>C, XM_024448357.2:c.152T>C, XM_024448357.1:c.152T>C, XM_024448370.2:c.152T>C, XM_024448370.1:c.152T>C, XM_047426429.1:c.152T>C, XM_047426430.1:c.152T>C, NM_001410960.1:c.152T>C, XM_047426436.1:c.152T>C, XM_047426441.1:c.152T>C, XM_047426440.1:c.152T>C, XM_047426444.1:c.152T>C, XM_047426438.1:c.152T>C, XM_047426426.1:c.152T>C, XM_047426427.1:c.152T>C, XM_047426428.1:c.152T>C, XM_047426431.1:c.152T>C, XM_047426432.1:c.152T>C, XR_007062454.1:n.165T>C, NP_778228.3:p.Met51Thr, XP_016872730.1:p.Met51Thr, XP_016872731.1:p.Met51Thr, XP_024304126.1:p.Met51Thr, XP_024304132.1:p.Met51Thr, NP_001316559.1:p.Met51Thr, NP_001316560.1:p.Met51Thr, XP_024304125.1:p.Met51Thr, XP_024304138.1:p.Met51Thr, XP_047282385.1:p.Met51Thr, XP_047282386.1:p.Met51Thr, XP_047282392.1:p.Met51Thr, XP_047282397.1:p.Met51Thr, XP_047282396.1:p.Met51Thr, XP_047282400.1:p.Met51Thr, XP_047282394.1:p.Met51Thr, XP_047282382.1:p.Met51Thr, XP_047282383.1:p.Met51Thr, XP_047282384.1:p.Met51Thr, XP_047282387.1:p.Met51Thr, XP_047282388.1:p.Met51Thr

                      11.

                      rs1484891090 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        11:16789198 (GRCh38)
                        11:16810745 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:16789197:C:A,NC_000011.10:16789197:C:T
                        Gene:
                        PLEKHA7 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        T=0.000035/1 (TOMMO)
                        HGVS:
                        NC_000011.10:g.16789198C>A, NC_000011.10:g.16789198C>T, NC_000011.9:g.16810745C>A, NC_000011.9:g.16810745C>T, NM_175058.5:c.3255G>T, NM_175058.5:c.3255G>A, NM_175058.4:c.3255G>T, NM_175058.4:c.3255G>A, XM_017017241.3:c.3459G>T, XM_017017241.3:c.3459G>A, XM_017017241.2:c.3459G>T, XM_017017241.2:c.3459G>A, XM_017017241.1:c.3459G>T, XM_017017241.1:c.3459G>A, XM_017017242.3:c.3339G>T, XM_017017242.3:c.3339G>A, XM_017017242.2:c.3339G>T, XM_017017242.2:c.3339G>A, XM_017017242.1:c.3339G>T, XM_017017242.1:c.3339G>A, XM_024448358.2:c.3459G>T, XM_024448358.2:c.3459G>A, XM_024448358.1:c.3459G>T, XM_024448358.1:c.3459G>A, XM_024448364.2:c.3258G>T, XM_024448364.2:c.3258G>A, NM_001329630.2:c.3255G>T, NM_001329630.2:c.3255G>A, NM_001329630.1:c.3255G>T, NM_001329630.1:c.3255G>A, XM_024448366.2:c.3141G>T, XM_024448366.2:c.3141G>A, XM_024448366.1:c.3141G>T, XM_024448366.1:c.3141G>A, XM_024448367.2:c.3141G>T, XM_024448367.2:c.3141G>A, XM_024448367.1:c.3141G>T, XM_024448367.1:c.3141G>A, XM_024448369.2:c.3141G>T, XM_024448369.2:c.3141G>A, XM_024448369.1:c.3141G>T, XM_024448369.1:c.3141G>A, NM_001329631.2:c.3258G>T, NM_001329631.2:c.3258G>A, NM_001329631.1:c.3258G>T, NM_001329631.1:c.3258G>A, XM_024448365.2:c.3177G>T, XM_024448365.2:c.3177G>A, XM_024448365.1:c.3177G>T, XM_024448365.1:c.3177G>A, XM_024448361.2:c.3321G>T, XM_024448361.2:c.3321G>A, XM_024448361.1:c.3321G>T, XM_024448361.1:c.3321G>A, XM_024448362.2:c.3285G>T, XM_024448362.2:c.3285G>A, XM_024448362.1:c.3285G>T, XM_024448362.1:c.3285G>A, XM_024448357.2:c.3456G>T, XM_024448357.2:c.3456G>A, XM_024448357.1:c.3456G>T, XM_024448357.1:c.3456G>A, XM_024448370.2:c.3123G>T, XM_024448370.2:c.3123G>A, XM_024448370.1:c.3123G>T, XM_024448370.1:c.3123G>A, XM_047426433.1:c.3330G>T, XM_047426433.1:c.3330G>A, XM_047426435.1:c.3240G>T, XM_047426435.1:c.3240G>A, XM_047426429.1:c.3378G>T, XM_047426429.1:c.3378G>A, XM_047426439.1:c.3120G>T, XM_047426439.1:c.3120G>A, XM_047426430.1:c.3339G>T, XM_047426430.1:c.3339G>A, NM_001410960.1:c.3258G>T, NM_001410960.1:c.3258G>A, XM_047426436.1:c.3258G>T, XM_047426436.1:c.3258G>A, XM_047426445.1:c.2976G>T, XM_047426445.1:c.2976G>A, XM_047426441.1:c.2922G>T, XM_047426441.1:c.2922G>A, XM_047426440.1:c.3378G>T, XM_047426440.1:c.3378G>A, XM_047426442.1:c.3120G>T, XM_047426442.1:c.3120G>A, XM_047426443.1:c.3117G>T, XM_047426443.1:c.3117G>A, XM_047426446.1:c.2940G>T, XM_047426446.1:c.2940G>A, XM_047426447.1:c.2784G>T, XM_047426447.1:c.2784G>A, XM_047426444.1:c.2922G>T, XM_047426444.1:c.2922G>A, XM_047426438.1:c.3459G>T, XM_047426438.1:c.3459G>A, XM_047426426.1:c.3459G>T, XM_047426426.1:c.3459G>A, XM_047426434.1:c.3201G>T, XM_047426434.1:c.3201G>A, XM_047426427.1:c.3378G>T, XM_047426427.1:c.3378G>A, XM_047426437.1:c.3120G>T, XM_047426437.1:c.3120G>A, XM_047426428.1:c.3339G>T, XM_047426428.1:c.3339G>A, XM_047426431.1:c.3258G>T, XM_047426431.1:c.3258G>A, XM_047426432.1:c.3255G>T, XM_047426432.1:c.3255G>A, XR_007062454.1:n.3472G>T, XR_007062454.1:n.3472G>A, NP_778228.3:p.Lys1085Asn, XP_016872730.1:p.Lys1153Asn, XP_016872731.1:p.Lys1113Asn, XP_024304126.1:p.Lys1153Asn, XP_024304132.1:p.Lys1086Asn, NP_001316559.1:p.Lys1085Asn, XP_024304134.1:p.Lys1047Asn, XP_024304135.1:p.Lys1047Asn, XP_024304137.1:p.Lys1047Asn, NP_001316560.1:p.Lys1086Asn, XP_024304133.1:p.Lys1059Asn, XP_024304129.1:p.Lys1107Asn, XP_024304130.1:p.Lys1095Asn, XP_024304125.1:p.Lys1152Asn, XP_024304138.1:p.Lys1041Asn, XP_047282389.1:p.Lys1110Asn, XP_047282391.1:p.Lys1080Asn, XP_047282385.1:p.Lys1126Asn, XP_047282395.1:p.Lys1040Asn, XP_047282386.1:p.Lys1113Asn, XP_047282392.1:p.Lys1086Asn, XP_047282401.1:p.Lys992Asn, XP_047282397.1:p.Lys974Asn, XP_047282396.1:p.Lys1126Asn, XP_047282398.1:p.Lys1040Asn, XP_047282399.1:p.Lys1039Asn, XP_047282402.1:p.Lys980Asn, XP_047282403.1:p.Lys928Asn, XP_047282400.1:p.Lys974Asn, XP_047282394.1:p.Lys1153Asn, XP_047282382.1:p.Lys1153Asn, XP_047282390.1:p.Lys1067Asn, XP_047282383.1:p.Lys1126Asn, XP_047282393.1:p.Lys1040Asn, XP_047282384.1:p.Lys1113Asn, XP_047282387.1:p.Lys1086Asn, XP_047282388.1:p.Lys1085Asn

                        12.

                        rs1483929196 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          11:16794553 (GRCh38)
                          11:16816100 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:16794552:G:A
                          Gene:
                          PLEKHA7 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0./0 (GnomAD)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.16794553G>A, NC_000011.9:g.16816100G>A, NM_175058.5:c.2680C>T, NM_175058.4:c.2680C>T, XM_017017241.3:c.2881C>T, XM_017017241.2:c.2881C>T, XM_017017241.1:c.2881C>T, XM_017017242.3:c.2761C>T, XM_017017242.2:c.2761C>T, XM_017017242.1:c.2761C>T, XM_024448358.2:c.2881C>T, XM_024448358.1:c.2881C>T, XM_024448364.2:c.2680C>T, NM_001329630.2:c.2680C>T, NM_001329630.1:c.2680C>T, XM_024448366.2:c.2563C>T, XM_024448366.1:c.2563C>T, XM_024448367.2:c.2563C>T, XM_024448367.1:c.2563C>T, XM_024448369.2:c.2563C>T, XM_024448369.1:c.2563C>T, NM_001329631.2:c.2680C>T, NM_001329631.1:c.2680C>T, XM_024448365.2:c.2599C>T, XM_024448365.1:c.2599C>T, XM_024448361.2:c.2743C>T, XM_024448361.1:c.2743C>T, XM_024448362.2:c.2707C>T, XM_024448362.1:c.2707C>T, XM_024448357.2:c.2881C>T, XM_024448357.1:c.2881C>T, XM_047426433.1:c.2752C>T, XM_047426435.1:c.2662C>T, XM_047426429.1:c.2800C>T, XM_047426439.1:c.2542C>T, XM_047426430.1:c.2761C>T, NM_001410960.1:c.2680C>T, XM_047426436.1:c.2680C>T, XM_047426445.1:c.2398C>T, XM_047426440.1:c.2800C>T, XM_047426442.1:c.2542C>T, XM_047426443.1:c.2542C>T, XM_047426446.1:c.2362C>T, XM_047426438.1:c.2881C>T, XM_047426426.1:c.2881C>T, XM_047426434.1:c.2623C>T, XM_047426427.1:c.2800C>T, XM_047426437.1:c.2542C>T, XM_047426428.1:c.2761C>T, XM_047426431.1:c.2680C>T, XM_047426432.1:c.2680C>T, XR_007062454.1:n.2894C>T, NP_778228.3:p.His894Tyr, XP_016872730.1:p.His961Tyr, XP_016872731.1:p.His921Tyr, XP_024304126.1:p.His961Tyr, XP_024304132.1:p.His894Tyr, NP_001316559.1:p.His894Tyr, XP_024304134.1:p.His855Tyr, XP_024304135.1:p.His855Tyr, XP_024304137.1:p.His855Tyr, NP_001316560.1:p.His894Tyr, XP_024304133.1:p.His867Tyr, XP_024304129.1:p.His915Tyr, XP_024304130.1:p.His903Tyr, XP_024304125.1:p.His961Tyr, XP_047282389.1:p.His918Tyr, XP_047282391.1:p.His888Tyr, XP_047282385.1:p.His934Tyr, XP_047282395.1:p.His848Tyr, XP_047282386.1:p.His921Tyr, XP_047282392.1:p.His894Tyr, XP_047282401.1:p.His800Tyr, XP_047282396.1:p.His934Tyr, XP_047282398.1:p.His848Tyr, XP_047282399.1:p.His848Tyr, XP_047282402.1:p.His788Tyr, XP_047282394.1:p.His961Tyr, XP_047282382.1:p.His961Tyr, XP_047282390.1:p.His875Tyr, XP_047282383.1:p.His934Tyr, XP_047282393.1:p.His848Tyr, XP_047282384.1:p.His921Tyr, XP_047282387.1:p.His894Tyr, XP_047282388.1:p.His894Tyr

                          13.

                          rs1483800483 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:16817209 (GRCh38)
                            11:16838756 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:16817208:G:A
                            Gene:
                            PLEKHA7 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.16817209G>A, NC_000011.9:g.16838756G>A, NM_175058.5:c.1457C>T, NM_175058.4:c.1457C>T, XM_017017241.3:c.1457C>T, XM_017017241.2:c.1457C>T, XM_017017241.1:c.1457C>T, XM_017017242.3:c.1457C>T, XM_017017242.2:c.1457C>T, XM_017017242.1:c.1457C>T, XM_024448358.2:c.1457C>T, XM_024448358.1:c.1457C>T, XM_024448364.2:c.1457C>T, NM_001329630.2:c.1457C>T, NM_001329630.1:c.1457C>T, XM_024448366.2:c.1139C>T, XM_024448366.1:c.1139C>T, XM_024448367.2:c.1139C>T, XM_024448367.1:c.1139C>T, XM_024448369.2:c.1139C>T, XM_024448369.1:c.1139C>T, NM_001329631.2:c.1457C>T, NM_001329631.1:c.1457C>T, XM_024448365.2:c.1175C>T, XM_024448365.1:c.1175C>T, XM_024448361.2:c.1319C>T, XM_024448361.1:c.1319C>T, XM_024448362.2:c.1283C>T, XM_024448362.1:c.1283C>T, XM_024448357.2:c.1457C>T, XM_024448357.1:c.1457C>T, XM_024448370.2:c.1457C>T, XM_024448370.1:c.1457C>T, XM_047426433.1:c.1328C>T, XM_047426435.1:c.1319C>T, XM_047426429.1:c.1457C>T, XM_047426439.1:c.1319C>T, XM_047426430.1:c.1457C>T, NM_001410960.1:c.1457C>T, XM_047426436.1:c.1457C>T, XM_047426445.1:c.1175C>T, XM_047426441.1:c.1457C>T, XM_047426440.1:c.1457C>T, XM_047426442.1:c.1319C>T, XM_047426443.1:c.1319C>T, XM_047426446.1:c.1139C>T, XM_047426447.1:c.1319C>T, XM_047426444.1:c.1457C>T, XM_047426438.1:c.1457C>T, XM_047426426.1:c.1457C>T, XM_047426434.1:c.1319C>T, XM_047426427.1:c.1457C>T, XM_047426437.1:c.1319C>T, XM_047426428.1:c.1457C>T, XM_047426431.1:c.1457C>T, XM_047426432.1:c.1457C>T, XR_007062454.1:n.1470C>T, NP_778228.3:p.Pro486Leu, XP_016872730.1:p.Pro486Leu, XP_016872731.1:p.Pro486Leu, XP_024304126.1:p.Pro486Leu, XP_024304132.1:p.Pro486Leu, NP_001316559.1:p.Pro486Leu, XP_024304134.1:p.Pro380Leu, XP_024304135.1:p.Pro380Leu, XP_024304137.1:p.Pro380Leu, NP_001316560.1:p.Pro486Leu, XP_024304133.1:p.Pro392Leu, XP_024304129.1:p.Pro440Leu, XP_024304130.1:p.Pro428Leu, XP_024304125.1:p.Pro486Leu, XP_024304138.1:p.Pro486Leu, XP_047282389.1:p.Pro443Leu, XP_047282391.1:p.Pro440Leu, XP_047282385.1:p.Pro486Leu, XP_047282395.1:p.Pro440Leu, XP_047282386.1:p.Pro486Leu, XP_047282392.1:p.Pro486Leu, XP_047282401.1:p.Pro392Leu, XP_047282397.1:p.Pro486Leu, XP_047282396.1:p.Pro486Leu, XP_047282398.1:p.Pro440Leu, XP_047282399.1:p.Pro440Leu, XP_047282402.1:p.Pro380Leu, XP_047282403.1:p.Pro440Leu, XP_047282400.1:p.Pro486Leu, XP_047282394.1:p.Pro486Leu, XP_047282382.1:p.Pro486Leu, XP_047282390.1:p.Pro440Leu, XP_047282383.1:p.Pro486Leu, XP_047282393.1:p.Pro440Leu, XP_047282384.1:p.Pro486Leu, XP_047282387.1:p.Pro486Leu, XP_047282388.1:p.Pro486Leu

                            14.

                            rs1483443946 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              11:17014366 (GRCh38)
                              11:17035913 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:17014365:A:G
                              Gene:
                              PLEKHA7 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000028/1 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.17014366A>G, NC_000011.9:g.17035913A>G, NM_175058.5:c.36T>C, NM_175058.4:c.36T>C, XM_017017241.3:c.36T>C, XM_017017241.2:c.36T>C, XM_017017241.1:c.36T>C, XM_017017242.3:c.36T>C, XM_017017242.2:c.36T>C, XM_017017242.1:c.36T>C, XM_024448358.2:c.36T>C, XM_024448358.1:c.36T>C, XM_024448364.2:c.36T>C, NM_001329630.2:c.36T>C, NM_001329630.1:c.36T>C, NM_001329631.2:c.36T>C, NM_001329631.1:c.36T>C, XM_024448357.2:c.36T>C, XM_024448357.1:c.36T>C, XM_024448370.2:c.36T>C, XM_024448370.1:c.36T>C, XM_047426429.1:c.36T>C, XM_047426430.1:c.36T>C, NM_001410960.1:c.36T>C, XM_047426436.1:c.36T>C, XM_047426441.1:c.36T>C, XM_047426440.1:c.36T>C, XM_047426444.1:c.36T>C, XM_047426438.1:c.36T>C, XM_047426426.1:c.36T>C, XM_047426427.1:c.36T>C, XM_047426428.1:c.36T>C, XM_047426431.1:c.36T>C, XM_047426432.1:c.36T>C, XR_007062454.1:n.49T>C

                              15.

                              rs1483137703 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>A [Show Flanks]
                                Chromosome:
                                11:16826567 (GRCh38)
                                11:16848114 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:16826566:T:A
                                Gene:
                                PLEKHA7 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000011.10:g.16826567T>A, NC_000011.9:g.16848114T>A, NM_175058.5:c.896A>T, NM_175058.4:c.896A>T, XM_017017241.3:c.896A>T, XM_017017241.2:c.896A>T, XM_017017241.1:c.896A>T, XM_017017242.3:c.896A>T, XM_017017242.2:c.896A>T, XM_017017242.1:c.896A>T, XM_024448358.2:c.896A>T, XM_024448358.1:c.896A>T, XM_024448364.2:c.896A>T, NM_001329630.2:c.896A>T, NM_001329630.1:c.896A>T, XM_024448366.2:c.578A>T, XM_024448366.1:c.578A>T, XM_024448367.2:c.578A>T, XM_024448367.1:c.578A>T, XM_024448369.2:c.578A>T, XM_024448369.1:c.578A>T, NM_001329631.2:c.896A>T, NM_001329631.1:c.896A>T, XM_024448365.2:c.614A>T, XM_024448365.1:c.614A>T, XM_024448361.2:c.758A>T, XM_024448361.1:c.758A>T, XM_024448362.2:c.722A>T, XM_024448362.1:c.722A>T, XM_024448357.2:c.896A>T, XM_024448357.1:c.896A>T, XM_024448370.2:c.896A>T, XM_024448370.1:c.896A>T, XM_047426433.1:c.767A>T, XM_047426435.1:c.758A>T, XM_047426429.1:c.896A>T, XM_047426439.1:c.758A>T, XM_047426430.1:c.896A>T, NM_001410960.1:c.896A>T, XM_047426436.1:c.896A>T, XM_047426445.1:c.614A>T, XM_047426441.1:c.896A>T, XM_047426440.1:c.896A>T, XM_047426442.1:c.758A>T, XM_047426443.1:c.758A>T, XM_047426446.1:c.578A>T, XM_047426447.1:c.758A>T, XM_047426444.1:c.896A>T, XM_047426438.1:c.896A>T, XM_047426426.1:c.896A>T, XM_047426434.1:c.758A>T, XM_047426427.1:c.896A>T, XM_047426437.1:c.758A>T, XM_047426428.1:c.896A>T, XM_047426431.1:c.896A>T, XM_047426432.1:c.896A>T, XR_007062454.1:n.909A>T, NP_778228.3:p.Gln299Leu, XP_016872730.1:p.Gln299Leu, XP_016872731.1:p.Gln299Leu, XP_024304126.1:p.Gln299Leu, XP_024304132.1:p.Gln299Leu, NP_001316559.1:p.Gln299Leu, XP_024304134.1:p.Gln193Leu, XP_024304135.1:p.Gln193Leu, XP_024304137.1:p.Gln193Leu, NP_001316560.1:p.Gln299Leu, XP_024304133.1:p.Gln205Leu, XP_024304129.1:p.Gln253Leu, XP_024304130.1:p.Gln241Leu, XP_024304125.1:p.Gln299Leu, XP_024304138.1:p.Gln299Leu, XP_047282389.1:p.Gln256Leu, XP_047282391.1:p.Gln253Leu, XP_047282385.1:p.Gln299Leu, XP_047282395.1:p.Gln253Leu, XP_047282386.1:p.Gln299Leu, XP_047282392.1:p.Gln299Leu, XP_047282401.1:p.Gln205Leu, XP_047282397.1:p.Gln299Leu, XP_047282396.1:p.Gln299Leu, XP_047282398.1:p.Gln253Leu, XP_047282399.1:p.Gln253Leu, XP_047282402.1:p.Gln193Leu, XP_047282403.1:p.Gln253Leu, XP_047282400.1:p.Gln299Leu, XP_047282394.1:p.Gln299Leu, XP_047282382.1:p.Gln299Leu, XP_047282390.1:p.Gln253Leu, XP_047282383.1:p.Gln299Leu, XP_047282393.1:p.Gln253Leu, XP_047282384.1:p.Gln299Leu, XP_047282387.1:p.Gln299Leu, XP_047282388.1:p.Gln299Leu

                                16.

                                rs1480678058 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  11:17014029 (GRCh38)
                                  11:17035576 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:17014028:C:G
                                  Gene:
                                  PLEKHA7 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000006/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.17014029C>G, NC_000011.9:g.17035576C>G, NM_175058.5:c.181G>C, NM_175058.4:c.181G>C, XM_017017241.3:c.181G>C, XM_017017241.2:c.181G>C, XM_017017241.1:c.181G>C, XM_017017242.3:c.181G>C, XM_017017242.2:c.181G>C, XM_017017242.1:c.181G>C, XM_024448358.2:c.181G>C, XM_024448358.1:c.181G>C, XM_024448364.2:c.181G>C, NM_001329630.2:c.181G>C, NM_001329630.1:c.181G>C, NM_001329631.2:c.181G>C, NM_001329631.1:c.181G>C, XM_024448357.2:c.181G>C, XM_024448357.1:c.181G>C, XM_024448370.2:c.181G>C, XM_024448370.1:c.181G>C, XM_047426429.1:c.181G>C, XM_047426430.1:c.181G>C, NM_001410960.1:c.181G>C, XM_047426436.1:c.181G>C, XM_047426441.1:c.181G>C, XM_047426440.1:c.181G>C, XM_047426444.1:c.181G>C, XM_047426438.1:c.181G>C, XM_047426426.1:c.181G>C, XM_047426427.1:c.181G>C, XM_047426428.1:c.181G>C, XM_047426431.1:c.181G>C, XM_047426432.1:c.181G>C, XR_007062454.1:n.194G>C, NP_778228.3:p.Glu61Gln, XP_016872730.1:p.Glu61Gln, XP_016872731.1:p.Glu61Gln, XP_024304126.1:p.Glu61Gln, XP_024304132.1:p.Glu61Gln, NP_001316559.1:p.Glu61Gln, NP_001316560.1:p.Glu61Gln, XP_024304125.1:p.Glu61Gln, XP_024304138.1:p.Glu61Gln, XP_047282385.1:p.Glu61Gln, XP_047282386.1:p.Glu61Gln, XP_047282392.1:p.Glu61Gln, XP_047282397.1:p.Glu61Gln, XP_047282396.1:p.Glu61Gln, XP_047282400.1:p.Glu61Gln, XP_047282394.1:p.Glu61Gln, XP_047282382.1:p.Glu61Gln, XP_047282383.1:p.Glu61Gln, XP_047282384.1:p.Glu61Gln, XP_047282387.1:p.Glu61Gln, XP_047282388.1:p.Glu61Gln

                                  17.

                                  rs1479511917 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    11:16817296 (GRCh38)
                                    11:16838843 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:16817295:C:T
                                    Gene:
                                    PLEKHA7 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.16817296C>T, NC_000011.9:g.16838843C>T, NM_175058.5:c.1370G>A, NM_175058.4:c.1370G>A, XM_017017241.3:c.1370G>A, XM_017017241.2:c.1370G>A, XM_017017241.1:c.1370G>A, XM_017017242.3:c.1370G>A, XM_017017242.2:c.1370G>A, XM_017017242.1:c.1370G>A, XM_024448358.2:c.1370G>A, XM_024448358.1:c.1370G>A, XM_024448364.2:c.1370G>A, NM_001329630.2:c.1370G>A, NM_001329630.1:c.1370G>A, XM_024448366.2:c.1052G>A, XM_024448366.1:c.1052G>A, XM_024448367.2:c.1052G>A, XM_024448367.1:c.1052G>A, XM_024448369.2:c.1052G>A, XM_024448369.1:c.1052G>A, NM_001329631.2:c.1370G>A, NM_001329631.1:c.1370G>A, XM_024448365.2:c.1088G>A, XM_024448365.1:c.1088G>A, XM_024448361.2:c.1232G>A, XM_024448361.1:c.1232G>A, XM_024448362.2:c.1196G>A, XM_024448362.1:c.1196G>A, XM_024448357.2:c.1370G>A, XM_024448357.1:c.1370G>A, XM_024448370.2:c.1370G>A, XM_024448370.1:c.1370G>A, XM_047426433.1:c.1241G>A, XM_047426435.1:c.1232G>A, XM_047426429.1:c.1370G>A, XM_047426439.1:c.1232G>A, XM_047426430.1:c.1370G>A, NM_001410960.1:c.1370G>A, XM_047426436.1:c.1370G>A, XM_047426445.1:c.1088G>A, XM_047426441.1:c.1370G>A, XM_047426440.1:c.1370G>A, XM_047426442.1:c.1232G>A, XM_047426443.1:c.1232G>A, XM_047426446.1:c.1052G>A, XM_047426447.1:c.1232G>A, XM_047426444.1:c.1370G>A, XM_047426438.1:c.1370G>A, XM_047426426.1:c.1370G>A, XM_047426434.1:c.1232G>A, XM_047426427.1:c.1370G>A, XM_047426437.1:c.1232G>A, XM_047426428.1:c.1370G>A, XM_047426431.1:c.1370G>A, XM_047426432.1:c.1370G>A, XR_007062454.1:n.1383G>A, NP_778228.3:p.Arg457His, XP_016872730.1:p.Arg457His, XP_016872731.1:p.Arg457His, XP_024304126.1:p.Arg457His, XP_024304132.1:p.Arg457His, NP_001316559.1:p.Arg457His, XP_024304134.1:p.Arg351His, XP_024304135.1:p.Arg351His, XP_024304137.1:p.Arg351His, NP_001316560.1:p.Arg457His, XP_024304133.1:p.Arg363His, XP_024304129.1:p.Arg411His, XP_024304130.1:p.Arg399His, XP_024304125.1:p.Arg457His, XP_024304138.1:p.Arg457His, XP_047282389.1:p.Arg414His, XP_047282391.1:p.Arg411His, XP_047282385.1:p.Arg457His, XP_047282395.1:p.Arg411His, XP_047282386.1:p.Arg457His, XP_047282392.1:p.Arg457His, XP_047282401.1:p.Arg363His, XP_047282397.1:p.Arg457His, XP_047282396.1:p.Arg457His, XP_047282398.1:p.Arg411His, XP_047282399.1:p.Arg411His, XP_047282402.1:p.Arg351His, XP_047282403.1:p.Arg411His, XP_047282400.1:p.Arg457His, XP_047282394.1:p.Arg457His, XP_047282382.1:p.Arg457His, XP_047282390.1:p.Arg411His, XP_047282383.1:p.Arg457His, XP_047282393.1:p.Arg411His, XP_047282384.1:p.Arg457His, XP_047282387.1:p.Arg457His, XP_047282388.1:p.Arg457His

                                    18.

                                    rs1479493604 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      11:16816231 (GRCh38)
                                      11:16837778 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:16816230:A:T
                                      Gene:
                                      PLEKHA7 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000011.10:g.16816231A>T, NC_000011.9:g.16837778A>T, NM_175058.5:c.1900T>A, NM_175058.4:c.1900T>A, XM_017017241.3:c.1900T>A, XM_017017241.2:c.1900T>A, XM_017017241.1:c.1900T>A, XM_017017242.3:c.1900T>A, XM_017017242.2:c.1900T>A, XM_017017242.1:c.1900T>A, XM_024448358.2:c.1900T>A, XM_024448358.1:c.1900T>A, XM_024448364.2:c.1900T>A, NM_001329630.2:c.1900T>A, NM_001329630.1:c.1900T>A, XM_024448366.2:c.1582T>A, XM_024448366.1:c.1582T>A, XM_024448367.2:c.1582T>A, XM_024448367.1:c.1582T>A, XM_024448369.2:c.1582T>A, XM_024448369.1:c.1582T>A, NM_001329631.2:c.1900T>A, NM_001329631.1:c.1900T>A, XM_024448365.2:c.1618T>A, XM_024448365.1:c.1618T>A, XM_024448361.2:c.1762T>A, XM_024448361.1:c.1762T>A, XM_024448362.2:c.1726T>A, XM_024448362.1:c.1726T>A, XM_024448357.2:c.1900T>A, XM_024448357.1:c.1900T>A, XM_024448370.2:c.1900T>A, XM_024448370.1:c.1900T>A, XM_047426433.1:c.1771T>A, XM_047426435.1:c.1762T>A, XM_047426429.1:c.1900T>A, XM_047426439.1:c.1762T>A, XM_047426430.1:c.1900T>A, NM_001410960.1:c.1900T>A, XM_047426436.1:c.1900T>A, XM_047426445.1:c.1618T>A, XM_047426441.1:c.1900T>A, XM_047426440.1:c.1900T>A, XM_047426442.1:c.1762T>A, XM_047426443.1:c.1762T>A, XM_047426446.1:c.1582T>A, XM_047426447.1:c.1762T>A, XM_047426444.1:c.1900T>A, XM_047426438.1:c.1900T>A, XM_047426426.1:c.1900T>A, XM_047426434.1:c.1762T>A, XM_047426427.1:c.1900T>A, XM_047426437.1:c.1762T>A, XM_047426428.1:c.1900T>A, XM_047426431.1:c.1900T>A, XM_047426432.1:c.1900T>A, XR_007062454.1:n.1913T>A, NP_778228.3:p.Ser634Thr, XP_016872730.1:p.Ser634Thr, XP_016872731.1:p.Ser634Thr, XP_024304126.1:p.Ser634Thr, XP_024304132.1:p.Ser634Thr, NP_001316559.1:p.Ser634Thr, XP_024304134.1:p.Ser528Thr, XP_024304135.1:p.Ser528Thr, XP_024304137.1:p.Ser528Thr, NP_001316560.1:p.Ser634Thr, XP_024304133.1:p.Ser540Thr, XP_024304129.1:p.Ser588Thr, XP_024304130.1:p.Ser576Thr, XP_024304125.1:p.Ser634Thr, XP_024304138.1:p.Ser634Thr, XP_047282389.1:p.Ser591Thr, XP_047282391.1:p.Ser588Thr, XP_047282385.1:p.Ser634Thr, XP_047282395.1:p.Ser588Thr, XP_047282386.1:p.Ser634Thr, XP_047282392.1:p.Ser634Thr, XP_047282401.1:p.Ser540Thr, XP_047282397.1:p.Ser634Thr, XP_047282396.1:p.Ser634Thr, XP_047282398.1:p.Ser588Thr, XP_047282399.1:p.Ser588Thr, XP_047282402.1:p.Ser528Thr, XP_047282403.1:p.Ser588Thr, XP_047282400.1:p.Ser634Thr, XP_047282394.1:p.Ser634Thr, XP_047282382.1:p.Ser634Thr, XP_047282390.1:p.Ser588Thr, XP_047282383.1:p.Ser634Thr, XP_047282393.1:p.Ser588Thr, XP_047282384.1:p.Ser634Thr, XP_047282387.1:p.Ser634Thr, XP_047282388.1:p.Ser634Thr

                                      19.

                                      rs1478989741 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        11:16801780 (GRCh38)
                                        11:16823327 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:16801779:T:C
                                        Gene:
                                        PLEKHA7 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        HGVS:
                                        NC_000011.10:g.16801780T>C, NC_000011.9:g.16823327T>C, NM_175058.5:c.2195A>G, NM_175058.4:c.2195A>G, XM_017017241.3:c.2396A>G, XM_017017241.2:c.2396A>G, XM_017017241.1:c.2396A>G, XM_017017242.3:c.2276A>G, XM_017017242.2:c.2276A>G, XM_017017242.1:c.2276A>G, XM_024448358.2:c.2396A>G, XM_024448358.1:c.2396A>G, XM_024448364.2:c.2195A>G, NM_001329630.2:c.2195A>G, NM_001329630.1:c.2195A>G, XM_024448366.2:c.2078A>G, XM_024448366.1:c.2078A>G, XM_024448367.2:c.2078A>G, XM_024448367.1:c.2078A>G, XM_024448369.2:c.2078A>G, XM_024448369.1:c.2078A>G, NM_001329631.2:c.2195A>G, NM_001329631.1:c.2195A>G, XM_024448365.2:c.2114A>G, XM_024448365.1:c.2114A>G, XM_024448361.2:c.2258A>G, XM_024448361.1:c.2258A>G, XM_024448362.2:c.2222A>G, XM_024448362.1:c.2222A>G, XM_024448357.2:c.2396A>G, XM_024448357.1:c.2396A>G, XM_024448370.2:c.2396A>G, XM_024448370.1:c.2396A>G, XM_047426433.1:c.2267A>G, XM_047426435.1:c.2177A>G, XM_047426429.1:c.2315A>G, XM_047426439.1:c.2057A>G, XM_047426430.1:c.2276A>G, NM_001410960.1:c.2195A>G, XM_047426436.1:c.2195A>G, XM_047426445.1:c.1913A>G, XM_047426441.1:c.2195A>G, XM_047426440.1:c.2315A>G, XM_047426442.1:c.2057A>G, XM_047426443.1:c.2057A>G, XM_047426446.1:c.1877A>G, XM_047426447.1:c.2057A>G, XM_047426444.1:c.2195A>G, XM_047426438.1:c.2396A>G, XM_047426426.1:c.2396A>G, XM_047426434.1:c.2138A>G, XM_047426427.1:c.2315A>G, XM_047426437.1:c.2057A>G, XM_047426428.1:c.2276A>G, XM_047426431.1:c.2195A>G, XM_047426432.1:c.2195A>G, XR_007062454.1:n.2409A>G, NP_778228.3:p.Gln732Arg, XP_016872730.1:p.Gln799Arg, XP_016872731.1:p.Gln759Arg, XP_024304126.1:p.Gln799Arg, XP_024304132.1:p.Gln732Arg, NP_001316559.1:p.Gln732Arg, XP_024304134.1:p.Gln693Arg, XP_024304135.1:p.Gln693Arg, XP_024304137.1:p.Gln693Arg, NP_001316560.1:p.Gln732Arg, XP_024304133.1:p.Gln705Arg, XP_024304129.1:p.Gln753Arg, XP_024304130.1:p.Gln741Arg, XP_024304125.1:p.Gln799Arg, XP_024304138.1:p.Gln799Arg, XP_047282389.1:p.Gln756Arg, XP_047282391.1:p.Gln726Arg, XP_047282385.1:p.Gln772Arg, XP_047282395.1:p.Gln686Arg, XP_047282386.1:p.Gln759Arg, XP_047282392.1:p.Gln732Arg, XP_047282401.1:p.Gln638Arg, XP_047282397.1:p.Gln732Arg, XP_047282396.1:p.Gln772Arg, XP_047282398.1:p.Gln686Arg, XP_047282399.1:p.Gln686Arg, XP_047282402.1:p.Gln626Arg, XP_047282403.1:p.Gln686Arg, XP_047282400.1:p.Gln732Arg, XP_047282394.1:p.Gln799Arg, XP_047282382.1:p.Gln799Arg, XP_047282390.1:p.Gln713Arg, XP_047282383.1:p.Gln772Arg, XP_047282393.1:p.Gln686Arg, XP_047282384.1:p.Gln759Arg, XP_047282387.1:p.Gln732Arg, XP_047282388.1:p.Gln732Arg

                                        20.

                                        rs1477161888 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          11:16816211 (GRCh38)
                                          11:16837758 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:16816210:G:A
                                          Gene:
                                          PLEKHA7 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_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.16816211G>A, NC_000011.9:g.16837758G>A, NM_175058.5:c.1920C>T, NM_175058.4:c.1920C>T, XM_017017241.3:c.1920C>T, XM_017017241.2:c.1920C>T, XM_017017241.1:c.1920C>T, XM_017017242.3:c.1920C>T, XM_017017242.2:c.1920C>T, XM_017017242.1:c.1920C>T, XM_024448358.2:c.1920C>T, XM_024448358.1:c.1920C>T, XM_024448364.2:c.1920C>T, NM_001329630.2:c.1920C>T, NM_001329630.1:c.1920C>T, XM_024448366.2:c.1602C>T, XM_024448366.1:c.1602C>T, XM_024448367.2:c.1602C>T, XM_024448367.1:c.1602C>T, XM_024448369.2:c.1602C>T, XM_024448369.1:c.1602C>T, NM_001329631.2:c.1920C>T, NM_001329631.1:c.1920C>T, XM_024448365.2:c.1638C>T, XM_024448365.1:c.1638C>T, XM_024448361.2:c.1782C>T, XM_024448361.1:c.1782C>T, XM_024448362.2:c.1746C>T, XM_024448362.1:c.1746C>T, XM_024448357.2:c.1920C>T, XM_024448357.1:c.1920C>T, XM_024448370.2:c.1920C>T, XM_024448370.1:c.1920C>T, XM_047426433.1:c.1791C>T, XM_047426435.1:c.1782C>T, XM_047426429.1:c.1920C>T, XM_047426439.1:c.1782C>T, XM_047426430.1:c.1920C>T, NM_001410960.1:c.1920C>T, XM_047426436.1:c.1920C>T, XM_047426445.1:c.1638C>T, XM_047426441.1:c.1920C>T, XM_047426440.1:c.1920C>T, XM_047426442.1:c.1782C>T, XM_047426443.1:c.1782C>T, XM_047426446.1:c.1602C>T, XM_047426447.1:c.1782C>T, XM_047426444.1:c.1920C>T, XM_047426438.1:c.1920C>T, XM_047426426.1:c.1920C>T, XM_047426434.1:c.1782C>T, XM_047426427.1:c.1920C>T, XM_047426437.1:c.1782C>T, XM_047426428.1:c.1920C>T, XM_047426431.1:c.1920C>T, XM_047426432.1:c.1920C>T, XR_007062454.1:n.1933C>T

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