U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1232

1.

rs1490834680 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    16:67281160 (GRCh38)
    16:67315063 (GRCh37)
    Canonical SPDI:
    NC_000016.10:67281159:C:A
    Gene:
    PLEKHG4 (Varview), LOC124903701 (Varview)
    Functional Consequence:
    coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_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_000016.10:g.67281160C>A, NC_000016.9:g.67315063C>A, NG_008439.2:g.8651C>A, NM_001129727.3:c.789C>A, NM_001129727.2:c.789C>A, NM_001129727.1:c.789C>A, NM_001129731.3:c.546C>A, NM_001129731.2:c.546C>A, NM_001129731.1:c.546C>A, NM_001129729.3:c.789C>A, NM_001129729.2:c.789C>A, NM_001129729.1:c.789C>A, NM_001129728.2:c.789C>A, NM_001129728.1:c.789C>A, NM_015432.3:c.789C>A, XM_011522987.3:c.789C>A, XM_011522987.2:c.789C>A, XM_011522987.1:c.789C>A, XM_011522986.3:c.789C>A, XM_011522986.2:c.789C>A, XM_011522986.1:c.789C>A, XM_011522988.3:c.789C>A, XM_011522988.2:c.789C>A, XM_011522988.1:c.789C>A, XM_011522985.3:c.789C>A, XM_011522985.2:c.789C>A, XM_011522985.1:c.789C>A, XM_047433893.1:c.693C>A, XM_047433896.1:c.693C>A, XM_047433897.1:c.693C>A, XM_047433895.1:c.693C>A, XM_047433894.1:c.693C>A, XM_047433898.1:c.789C>A, XM_047433899.1:c.210C>A

    2.

    rs1490528189 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      16:67286618 (GRCh38)
      16:67320521 (GRCh37)
      Canonical SPDI:
      NC_000016.10:67286617:G:A
      Gene:
      PLEKHG4 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000016.10:g.67286618G>A, NC_000016.9:g.67320521G>A, NG_008439.2:g.14109G>A, NM_001129727.3:c.2706G>A, NM_001129727.2:c.2706G>A, NM_001129727.1:c.2706G>A, NM_001129731.3:c.2463G>A, NM_001129731.2:c.2463G>A, NM_001129731.1:c.2463G>A, NM_001129729.3:c.2706G>A, NM_001129729.2:c.2706G>A, NM_001129729.1:c.2706G>A, NM_001129728.2:c.2706G>A, NM_001129728.1:c.2706G>A, NM_015432.3:c.2706G>A, XM_011522987.3:c.2706G>A, XM_011522987.2:c.2706G>A, XM_011522987.1:c.2706G>A, XM_011522986.3:c.2706G>A, XM_011522986.2:c.2706G>A, XM_011522986.1:c.2706G>A, XM_011522988.3:c.2706G>A, XM_011522988.2:c.2706G>A, XM_011522988.1:c.2706G>A, XM_011522985.3:c.2706G>A, XM_011522985.2:c.2706G>A, XM_011522985.1:c.2706G>A, XM_047433893.1:c.2610G>A, XM_047433896.1:c.2610G>A, XM_047433897.1:c.2610G>A, XM_047433895.1:c.2610G>A, XM_047433894.1:c.2610G>A, XM_047433898.1:c.2706G>A, XM_047433899.1:c.2127G>A

      3.

      rs1490152087 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        16:67284772 (GRCh38)
        16:67318675 (GRCh37)
        Canonical SPDI:
        NC_000016.10:67284771:G:A,NC_000016.10:67284771:G:T
        Gene:
        PLEKHG4 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (GnomAD_exomes)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000016.10:g.67284772G>A, NC_000016.10:g.67284772G>T, NC_000016.9:g.67318675G>A, NC_000016.9:g.67318675G>T, NG_008439.2:g.12263G>A, NG_008439.2:g.12263G>T, NM_001129727.3:c.1752G>A, NM_001129727.3:c.1752G>T, NM_001129727.2:c.1752G>A, NM_001129727.2:c.1752G>T, NM_001129727.1:c.1752G>A, NM_001129727.1:c.1752G>T, NM_001129731.3:c.1509G>A, NM_001129731.3:c.1509G>T, NM_001129731.2:c.1509G>A, NM_001129731.2:c.1509G>T, NM_001129731.1:c.1509G>A, NM_001129731.1:c.1509G>T, NM_001129729.3:c.1752G>A, NM_001129729.3:c.1752G>T, NM_001129729.2:c.1752G>A, NM_001129729.2:c.1752G>T, NM_001129729.1:c.1752G>A, NM_001129729.1:c.1752G>T, NM_001129728.2:c.1752G>A, NM_001129728.2:c.1752G>T, NM_001129728.1:c.1752G>A, NM_001129728.1:c.1752G>T, NM_015432.3:c.1752G>A, NM_015432.3:c.1752G>T, XM_011522987.3:c.1752G>A, XM_011522987.3:c.1752G>T, XM_011522987.2:c.1752G>A, XM_011522987.2:c.1752G>T, XM_011522987.1:c.1752G>A, XM_011522987.1:c.1752G>T, XM_011522986.3:c.1752G>A, XM_011522986.3:c.1752G>T, XM_011522986.2:c.1752G>A, XM_011522986.2:c.1752G>T, XM_011522986.1:c.1752G>A, XM_011522986.1:c.1752G>T, XM_011522988.3:c.1752G>A, XM_011522988.3:c.1752G>T, XM_011522988.2:c.1752G>A, XM_011522988.2:c.1752G>T, XM_011522988.1:c.1752G>A, XM_011522988.1:c.1752G>T, XM_011522985.3:c.1752G>A, XM_011522985.3:c.1752G>T, XM_011522985.2:c.1752G>A, XM_011522985.2:c.1752G>T, XM_011522985.1:c.1752G>A, XM_011522985.1:c.1752G>T, XM_047433893.1:c.1656G>A, XM_047433893.1:c.1656G>T, XM_047433896.1:c.1656G>A, XM_047433896.1:c.1656G>T, XM_047433897.1:c.1656G>A, XM_047433897.1:c.1656G>T, XM_047433895.1:c.1656G>A, XM_047433895.1:c.1656G>T, XM_047433894.1:c.1656G>A, XM_047433894.1:c.1656G>T, XM_047433898.1:c.1752G>A, XM_047433898.1:c.1752G>T, XM_047433899.1:c.1173G>A, XM_047433899.1:c.1173G>T

        4.

        rs1487761870 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          16:67285073 (GRCh38)
          16:67318976 (GRCh37)
          Canonical SPDI:
          NC_000016.10:67285072:A:C
          Gene:
          PLEKHG4 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.67285073A>C, NC_000016.9:g.67318976A>C, NG_008439.2:g.12564A>C, NM_001129727.3:c.2053A>C, NM_001129727.2:c.2053A>C, NM_001129727.1:c.2053A>C, NM_001129731.3:c.1810A>C, NM_001129731.2:c.1810A>C, NM_001129731.1:c.1810A>C, NM_001129729.3:c.2053A>C, NM_001129729.2:c.2053A>C, NM_001129729.1:c.2053A>C, NM_001129728.2:c.2053A>C, NM_001129728.1:c.2053A>C, NM_015432.3:c.2053A>C, XM_011522987.3:c.2053A>C, XM_011522987.2:c.2053A>C, XM_011522987.1:c.2053A>C, XM_011522986.3:c.2053A>C, XM_011522986.2:c.2053A>C, XM_011522986.1:c.2053A>C, XM_011522988.3:c.2053A>C, XM_011522988.2:c.2053A>C, XM_011522988.1:c.2053A>C, XM_011522985.3:c.2053A>C, XM_011522985.2:c.2053A>C, XM_011522985.1:c.2053A>C, XM_047433893.1:c.1957A>C, XM_047433896.1:c.1957A>C, XM_047433897.1:c.1957A>C, XM_047433895.1:c.1957A>C, XM_047433894.1:c.1957A>C, XM_047433898.1:c.2053A>C, XM_047433899.1:c.1474A>C, NP_001123199.1:p.Ser685Arg, NP_001123203.1:p.Ser604Arg, NP_001123201.1:p.Ser685Arg, NP_001123200.1:p.Ser685Arg, XP_011521289.1:p.Ser685Arg, XP_011521288.1:p.Ser685Arg, XP_011521290.1:p.Ser685Arg, XP_011521287.1:p.Ser685Arg, XP_047289849.1:p.Ser653Arg, XP_047289852.1:p.Ser653Arg, XP_047289853.1:p.Ser653Arg, XP_047289851.1:p.Ser653Arg, XP_047289850.1:p.Ser653Arg, XP_047289854.1:p.Ser685Arg, XP_047289855.1:p.Ser492Arg

          5.

          rs1487294672 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            16:67284859 (GRCh38)
            16:67318762 (GRCh37)
            Canonical SPDI:
            NC_000016.10:67284858:C:G
            Gene:
            PLEKHG4 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.67284859C>G, NC_000016.9:g.67318762C>G, NG_008439.2:g.12350C>G, NM_001129727.3:c.1839C>G, NM_001129727.2:c.1839C>G, NM_001129727.1:c.1839C>G, NM_001129731.3:c.1596C>G, NM_001129731.2:c.1596C>G, NM_001129731.1:c.1596C>G, NM_001129729.3:c.1839C>G, NM_001129729.2:c.1839C>G, NM_001129729.1:c.1839C>G, NM_001129728.2:c.1839C>G, NM_001129728.1:c.1839C>G, NM_015432.3:c.1839C>G, XM_011522987.3:c.1839C>G, XM_011522987.2:c.1839C>G, XM_011522987.1:c.1839C>G, XM_011522986.3:c.1839C>G, XM_011522986.2:c.1839C>G, XM_011522986.1:c.1839C>G, XM_011522988.3:c.1839C>G, XM_011522988.2:c.1839C>G, XM_011522988.1:c.1839C>G, XM_011522985.3:c.1839C>G, XM_011522985.2:c.1839C>G, XM_011522985.1:c.1839C>G, XM_047433893.1:c.1743C>G, XM_047433896.1:c.1743C>G, XM_047433897.1:c.1743C>G, XM_047433895.1:c.1743C>G, XM_047433894.1:c.1743C>G, XM_047433898.1:c.1839C>G, XM_047433899.1:c.1260C>G

            6.

            rs1486004178 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              16:67287031 (GRCh38)
              16:67320934 (GRCh37)
              Canonical SPDI:
              NC_000016.10:67287030:G:A,NC_000016.10:67287030:G:C
              Gene:
              PLEKHG4 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000016.10:g.67287031G>A, NC_000016.10:g.67287031G>C, NC_000016.9:g.67320934G>A, NC_000016.9:g.67320934G>C, NG_008439.2:g.14522G>A, NG_008439.2:g.14522G>C, NM_001129727.3:c.2957G>A, NM_001129727.3:c.2957G>C, NM_001129727.2:c.2957G>A, NM_001129727.2:c.2957G>C, NM_001129727.1:c.2957G>A, NM_001129727.1:c.2957G>C, NM_001129731.3:c.2714G>A, NM_001129731.3:c.2714G>C, NM_001129731.2:c.2714G>A, NM_001129731.2:c.2714G>C, NM_001129731.1:c.2714G>A, NM_001129731.1:c.2714G>C, NM_001129729.3:c.2957G>A, NM_001129729.3:c.2957G>C, NM_001129729.2:c.2957G>A, NM_001129729.2:c.2957G>C, NM_001129729.1:c.2957G>A, NM_001129729.1:c.2957G>C, NM_001129728.2:c.2957G>A, NM_001129728.2:c.2957G>C, NM_001129728.1:c.2957G>A, NM_001129728.1:c.2957G>C, NM_015432.3:c.2957G>A, NM_015432.3:c.2957G>C, XM_011522987.3:c.2957G>A, XM_011522987.3:c.2957G>C, XM_011522987.2:c.2957G>A, XM_011522987.2:c.2957G>C, XM_011522987.1:c.2957G>A, XM_011522987.1:c.2957G>C, XM_011522986.3:c.2957G>A, XM_011522986.3:c.2957G>C, XM_011522986.2:c.2957G>A, XM_011522986.2:c.2957G>C, XM_011522986.1:c.2957G>A, XM_011522986.1:c.2957G>C, XM_011522988.3:c.2957G>A, XM_011522988.3:c.2957G>C, XM_011522988.2:c.2957G>A, XM_011522988.2:c.2957G>C, XM_011522988.1:c.2957G>A, XM_011522988.1:c.2957G>C, XM_011522985.3:c.2957G>A, XM_011522985.3:c.2957G>C, XM_011522985.2:c.2957G>A, XM_011522985.2:c.2957G>C, XM_011522985.1:c.2957G>A, XM_011522985.1:c.2957G>C, XM_047433893.1:c.2861G>A, XM_047433893.1:c.2861G>C, XM_047433896.1:c.2861G>A, XM_047433896.1:c.2861G>C, XM_047433897.1:c.2861G>A, XM_047433897.1:c.2861G>C, XM_047433895.1:c.2861G>A, XM_047433895.1:c.2861G>C, XM_047433894.1:c.2861G>A, XM_047433894.1:c.2861G>C, XM_047433898.1:c.2957G>A, XM_047433898.1:c.2957G>C, XM_047433899.1:c.2378G>A, XM_047433899.1:c.2378G>C, NP_001123199.1:p.Gly986Glu, NP_001123199.1:p.Gly986Ala, NP_001123203.1:p.Gly905Glu, NP_001123203.1:p.Gly905Ala, NP_001123201.1:p.Gly986Glu, NP_001123201.1:p.Gly986Ala, NP_001123200.1:p.Gly986Glu, NP_001123200.1:p.Gly986Ala, XP_011521289.1:p.Gly986Glu, XP_011521289.1:p.Gly986Ala, XP_011521288.1:p.Gly986Glu, XP_011521288.1:p.Gly986Ala, XP_011521290.1:p.Gly986Glu, XP_011521290.1:p.Gly986Ala, XP_011521287.1:p.Gly986Glu, XP_011521287.1:p.Gly986Ala, XP_047289849.1:p.Gly954Glu, XP_047289849.1:p.Gly954Ala, XP_047289852.1:p.Gly954Glu, XP_047289852.1:p.Gly954Ala, XP_047289853.1:p.Gly954Glu, XP_047289853.1:p.Gly954Ala, XP_047289851.1:p.Gly954Glu, XP_047289851.1:p.Gly954Ala, XP_047289850.1:p.Gly954Glu, XP_047289850.1:p.Gly954Ala, XP_047289854.1:p.Gly986Glu, XP_047289854.1:p.Gly986Ala, XP_047289855.1:p.Gly793Glu, XP_047289855.1:p.Gly793Ala

              7.

              rs1485987161 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                16:67282102 (GRCh38)
                16:67316005 (GRCh37)
                Canonical SPDI:
                NC_000016.10:67282101:C:G
                Gene:
                PLEKHG4 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000016.10:g.67282102C>G, NC_000016.9:g.67316005C>G, NG_008439.2:g.9593C>G, NM_001129727.3:c.1099C>G, NM_001129727.2:c.1099C>G, NM_001129727.1:c.1099C>G, NM_001129731.3:c.856C>G, NM_001129731.2:c.856C>G, NM_001129731.1:c.856C>G, NM_001129729.3:c.1099C>G, NM_001129729.2:c.1099C>G, NM_001129729.1:c.1099C>G, NM_001129728.2:c.1099C>G, NM_001129728.1:c.1099C>G, NM_015432.3:c.1099C>G, XM_011522987.3:c.1099C>G, XM_011522987.2:c.1099C>G, XM_011522987.1:c.1099C>G, XM_011522986.3:c.1099C>G, XM_011522986.2:c.1099C>G, XM_011522986.1:c.1099C>G, XM_011522988.3:c.1099C>G, XM_011522988.2:c.1099C>G, XM_011522988.1:c.1099C>G, XM_011522985.3:c.1099C>G, XM_011522985.2:c.1099C>G, XM_011522985.1:c.1099C>G, XM_047433893.1:c.1003C>G, XM_047433896.1:c.1003C>G, XM_047433897.1:c.1003C>G, XM_047433895.1:c.1003C>G, XM_047433894.1:c.1003C>G, XM_047433898.1:c.1099C>G, XM_047433899.1:c.520C>G, NP_001123199.1:p.Pro367Ala, NP_001123203.1:p.Pro286Ala, NP_001123201.1:p.Pro367Ala, NP_001123200.1:p.Pro367Ala, XP_011521289.1:p.Pro367Ala, XP_011521288.1:p.Pro367Ala, XP_011521290.1:p.Pro367Ala, XP_011521287.1:p.Pro367Ala, XP_047289849.1:p.Pro335Ala, XP_047289852.1:p.Pro335Ala, XP_047289853.1:p.Pro335Ala, XP_047289851.1:p.Pro335Ala, XP_047289850.1:p.Pro335Ala, XP_047289854.1:p.Pro367Ala, XP_047289855.1:p.Pro174Ala

                8.

                rs1485762164 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  16:67280761 (GRCh38)
                  16:67314664 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:67280760:G:C
                  Gene:
                  PLEKHG4 (Varview), LOC124903701 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  C=0.000008/2 (GnomAD_exomes)
                  C=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000016.10:g.67280761G>C, NC_000016.9:g.67314664G>C, NG_008439.2:g.8252G>C, NM_001129727.3:c.550G>C, NM_001129727.2:c.550G>C, NM_001129727.1:c.550G>C, NM_001129729.3:c.550G>C, NM_001129729.2:c.550G>C, NM_001129729.1:c.550G>C, NM_001129728.2:c.550G>C, NM_001129728.1:c.550G>C, NM_015432.3:c.550G>C, XM_011522987.3:c.550G>C, XM_011522987.2:c.550G>C, XM_011522987.1:c.550G>C, XM_011522986.3:c.550G>C, XM_011522986.2:c.550G>C, XM_011522986.1:c.550G>C, XM_011522988.3:c.550G>C, XM_011522988.2:c.550G>C, XM_011522988.1:c.550G>C, XM_011522985.3:c.550G>C, XM_011522985.2:c.550G>C, XM_011522985.1:c.550G>C, XM_047433898.1:c.550G>C, XM_047433899.1:c.-30G>C, NP_001123199.1:p.Asp184His, NP_001123201.1:p.Asp184His, NP_001123200.1:p.Asp184His, XP_011521289.1:p.Asp184His, XP_011521288.1:p.Asp184His, XP_011521290.1:p.Asp184His, XP_011521287.1:p.Asp184His, XP_047289854.1:p.Asp184His

                  9.

                  rs1485359833 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    16:67286482 (GRCh38)
                    16:67320385 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:67286481:C:G,NC_000016.10:67286481:C:T
                    Gene:
                    PLEKHG4 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0.000071/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000016.10:g.67286482C>G, NC_000016.10:g.67286482C>T, NC_000016.9:g.67320385C>G, NC_000016.9:g.67320385C>T, NG_008439.2:g.13973C>G, NG_008439.2:g.13973C>T, NM_001129727.3:c.2570C>G, NM_001129727.3:c.2570C>T, NM_001129727.2:c.2570C>G, NM_001129727.2:c.2570C>T, NM_001129727.1:c.2570C>G, NM_001129727.1:c.2570C>T, NM_001129731.3:c.2327C>G, NM_001129731.3:c.2327C>T, NM_001129731.2:c.2327C>G, NM_001129731.2:c.2327C>T, NM_001129731.1:c.2327C>G, NM_001129731.1:c.2327C>T, NM_001129729.3:c.2570C>G, NM_001129729.3:c.2570C>T, NM_001129729.2:c.2570C>G, NM_001129729.2:c.2570C>T, NM_001129729.1:c.2570C>G, NM_001129729.1:c.2570C>T, NM_001129728.2:c.2570C>G, NM_001129728.2:c.2570C>T, NM_001129728.1:c.2570C>G, NM_001129728.1:c.2570C>T, NM_015432.3:c.2570C>G, NM_015432.3:c.2570C>T, XM_011522987.3:c.2570C>G, XM_011522987.3:c.2570C>T, XM_011522987.2:c.2570C>G, XM_011522987.2:c.2570C>T, XM_011522987.1:c.2570C>G, XM_011522987.1:c.2570C>T, XM_011522986.3:c.2570C>G, XM_011522986.3:c.2570C>T, XM_011522986.2:c.2570C>G, XM_011522986.2:c.2570C>T, XM_011522986.1:c.2570C>G, XM_011522986.1:c.2570C>T, XM_011522988.3:c.2570C>G, XM_011522988.3:c.2570C>T, XM_011522988.2:c.2570C>G, XM_011522988.2:c.2570C>T, XM_011522988.1:c.2570C>G, XM_011522988.1:c.2570C>T, XM_011522985.3:c.2570C>G, XM_011522985.3:c.2570C>T, XM_011522985.2:c.2570C>G, XM_011522985.2:c.2570C>T, XM_011522985.1:c.2570C>G, XM_011522985.1:c.2570C>T, XM_047433893.1:c.2474C>G, XM_047433893.1:c.2474C>T, XM_047433896.1:c.2474C>G, XM_047433896.1:c.2474C>T, XM_047433897.1:c.2474C>G, XM_047433897.1:c.2474C>T, XM_047433895.1:c.2474C>G, XM_047433895.1:c.2474C>T, XM_047433894.1:c.2474C>G, XM_047433894.1:c.2474C>T, XM_047433898.1:c.2570C>G, XM_047433898.1:c.2570C>T, XM_047433899.1:c.1991C>G, XM_047433899.1:c.1991C>T, NP_001123199.1:p.Ala857Gly, NP_001123199.1:p.Ala857Val, NP_001123203.1:p.Ala776Gly, NP_001123203.1:p.Ala776Val, NP_001123201.1:p.Ala857Gly, NP_001123201.1:p.Ala857Val, NP_001123200.1:p.Ala857Gly, NP_001123200.1:p.Ala857Val, XP_011521289.1:p.Ala857Gly, XP_011521289.1:p.Ala857Val, XP_011521288.1:p.Ala857Gly, XP_011521288.1:p.Ala857Val, XP_011521290.1:p.Ala857Gly, XP_011521290.1:p.Ala857Val, XP_011521287.1:p.Ala857Gly, XP_011521287.1:p.Ala857Val, XP_047289849.1:p.Ala825Gly, XP_047289849.1:p.Ala825Val, XP_047289852.1:p.Ala825Gly, XP_047289852.1:p.Ala825Val, XP_047289853.1:p.Ala825Gly, XP_047289853.1:p.Ala825Val, XP_047289851.1:p.Ala825Gly, XP_047289851.1:p.Ala825Val, XP_047289850.1:p.Ala825Gly, XP_047289850.1:p.Ala825Val, XP_047289854.1:p.Ala857Gly, XP_047289854.1:p.Ala857Val, XP_047289855.1:p.Ala664Gly, XP_047289855.1:p.Ala664Val

                    10.

                    rs1485308997 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      16:67285147 (GRCh38)
                      16:67319050 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:67285146:A:G
                      Gene:
                      PLEKHG4 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant
                      HGVS:
                      NC_000016.10:g.67285147A>G, NC_000016.9:g.67319050A>G, NG_008439.2:g.12638A>G, NM_001129727.3:c.2127A>G, NM_001129727.2:c.2127A>G, NM_001129727.1:c.2127A>G, NM_001129731.3:c.1884A>G, NM_001129731.2:c.1884A>G, NM_001129731.1:c.1884A>G, NM_001129729.3:c.2127A>G, NM_001129729.2:c.2127A>G, NM_001129729.1:c.2127A>G, NM_001129728.2:c.2127A>G, NM_001129728.1:c.2127A>G, NM_015432.3:c.2127A>G, XM_011522987.3:c.2127A>G, XM_011522987.2:c.2127A>G, XM_011522987.1:c.2127A>G, XM_011522986.3:c.2127A>G, XM_011522986.2:c.2127A>G, XM_011522986.1:c.2127A>G, XM_011522988.3:c.2127A>G, XM_011522988.2:c.2127A>G, XM_011522988.1:c.2127A>G, XM_011522985.3:c.2127A>G, XM_011522985.2:c.2127A>G, XM_011522985.1:c.2127A>G, XM_047433893.1:c.2031A>G, XM_047433896.1:c.2031A>G, XM_047433897.1:c.2031A>G, XM_047433895.1:c.2031A>G, XM_047433894.1:c.2031A>G, XM_047433898.1:c.2127A>G, XM_047433899.1:c.1548A>G

                      11.

                      rs1484528109 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        16:67280509 (GRCh38)
                        16:67314412 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:67280508:C:G,NC_000016.10:67280508:C:T
                        Gene:
                        PLEKHG4 (Varview), LOC124903701 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000066/2 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.67280509C>G, NC_000016.10:g.67280509C>T, NC_000016.9:g.67314412C>G, NC_000016.9:g.67314412C>T, NG_008439.2:g.8000C>G, NG_008439.2:g.8000C>T, NM_001129727.3:c.465C>G, NM_001129727.3:c.465C>T, NM_001129727.2:c.465C>G, NM_001129727.2:c.465C>T, NM_001129727.1:c.465C>G, NM_001129727.1:c.465C>T, NM_001129729.3:c.465C>G, NM_001129729.3:c.465C>T, NM_001129729.2:c.465C>G, NM_001129729.2:c.465C>T, NM_001129729.1:c.465C>G, NM_001129729.1:c.465C>T, NM_001129728.2:c.465C>G, NM_001129728.2:c.465C>T, NM_001129728.1:c.465C>G, NM_001129728.1:c.465C>T, NM_015432.3:c.465C>G, NM_015432.3:c.465C>T, XM_011522987.3:c.465C>G, XM_011522987.3:c.465C>T, XM_011522987.2:c.465C>G, XM_011522987.2:c.465C>T, XM_011522987.1:c.465C>G, XM_011522987.1:c.465C>T, XM_011522986.3:c.465C>G, XM_011522986.3:c.465C>T, XM_011522986.2:c.465C>G, XM_011522986.2:c.465C>T, XM_011522986.1:c.465C>G, XM_011522986.1:c.465C>T, XM_011522988.3:c.465C>G, XM_011522988.3:c.465C>T, XM_011522988.2:c.465C>G, XM_011522988.2:c.465C>T, XM_011522988.1:c.465C>G, XM_011522988.1:c.465C>T, XM_011522985.3:c.465C>G, XM_011522985.3:c.465C>T, XM_011522985.2:c.465C>G, XM_011522985.2:c.465C>T, XM_011522985.1:c.465C>G, XM_011522985.1:c.465C>T, XM_047433893.1:c.465C>G, XM_047433893.1:c.465C>T, XM_047433896.1:c.465C>G, XM_047433896.1:c.465C>T, XM_047433897.1:c.465C>G, XM_047433897.1:c.465C>T, XM_047433895.1:c.465C>G, XM_047433895.1:c.465C>T, XM_047433894.1:c.465C>G, XM_047433894.1:c.465C>T, XM_047433898.1:c.465C>G, XM_047433898.1:c.465C>T, XM_047433899.1:c.-282C>G, XM_047433899.1:c.-282C>T, NP_001123199.1:p.Asp155Glu, NP_001123201.1:p.Asp155Glu, NP_001123200.1:p.Asp155Glu, XP_011521289.1:p.Asp155Glu, XP_011521288.1:p.Asp155Glu, XP_011521290.1:p.Asp155Glu, XP_011521287.1:p.Asp155Glu, XP_047289849.1:p.Asp155Glu, XP_047289852.1:p.Asp155Glu, XP_047289853.1:p.Asp155Glu, XP_047289851.1:p.Asp155Glu, XP_047289850.1:p.Asp155Glu, XP_047289854.1:p.Asp155Glu

                        12.

                        rs1484276732 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:67284903 (GRCh38)
                          16:67318806 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:67284902:C:T
                          Gene:
                          PLEKHG4 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000016.10:g.67284903C>T, NC_000016.9:g.67318806C>T, NG_008439.2:g.12394C>T, NM_001129727.3:c.1883C>T, NM_001129727.2:c.1883C>T, NM_001129727.1:c.1883C>T, NM_001129731.3:c.1640C>T, NM_001129731.2:c.1640C>T, NM_001129731.1:c.1640C>T, NM_001129729.3:c.1883C>T, NM_001129729.2:c.1883C>T, NM_001129729.1:c.1883C>T, NM_001129728.2:c.1883C>T, NM_001129728.1:c.1883C>T, NM_015432.3:c.1883C>T, XM_011522987.3:c.1883C>T, XM_011522987.2:c.1883C>T, XM_011522987.1:c.1883C>T, XM_011522986.3:c.1883C>T, XM_011522986.2:c.1883C>T, XM_011522986.1:c.1883C>T, XM_011522988.3:c.1883C>T, XM_011522988.2:c.1883C>T, XM_011522988.1:c.1883C>T, XM_011522985.3:c.1883C>T, XM_011522985.2:c.1883C>T, XM_011522985.1:c.1883C>T, XM_047433893.1:c.1787C>T, XM_047433896.1:c.1787C>T, XM_047433897.1:c.1787C>T, XM_047433895.1:c.1787C>T, XM_047433894.1:c.1787C>T, XM_047433898.1:c.1883C>T, XM_047433899.1:c.1304C>T, NP_001123199.1:p.Ala628Val, NP_001123203.1:p.Ala547Val, NP_001123201.1:p.Ala628Val, NP_001123200.1:p.Ala628Val, XP_011521289.1:p.Ala628Val, XP_011521288.1:p.Ala628Val, XP_011521290.1:p.Ala628Val, XP_011521287.1:p.Ala628Val, XP_047289849.1:p.Ala596Val, XP_047289852.1:p.Ala596Val, XP_047289853.1:p.Ala596Val, XP_047289851.1:p.Ala596Val, XP_047289850.1:p.Ala596Val, XP_047289854.1:p.Ala628Val, XP_047289855.1:p.Ala435Val

                          13.

                          rs1483794057 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            16:67280067 (GRCh38)
                            16:67313970 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:67280066:G:T
                            Gene:
                            PLEKHG4 (Varview), LOC124903701 (Varview)
                            Functional Consequence:
                            2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
                            HGVS:
                            NC_000016.10:g.67280067G>T, NC_000016.9:g.67313970G>T, NG_008439.2:g.7558G>T, NM_001129727.3:c.23G>T, NM_001129727.2:c.23G>T, NM_001129727.1:c.23G>T, NM_001129731.3:c.23G>T, NM_001129731.2:c.23G>T, NM_001129731.1:c.23G>T, NM_001129729.3:c.23G>T, NM_001129729.2:c.23G>T, NM_001129729.1:c.23G>T, NM_001129728.2:c.23G>T, NM_001129728.1:c.23G>T, NM_015432.3:c.23G>T, XM_011522987.3:c.23G>T, XM_011522987.2:c.23G>T, XM_011522987.1:c.23G>T, XM_011522986.3:c.23G>T, XM_011522986.2:c.23G>T, XM_011522986.1:c.23G>T, XM_011522988.3:c.23G>T, XM_011522988.2:c.23G>T, XM_011522988.1:c.23G>T, XM_011522985.3:c.23G>T, XM_011522985.2:c.23G>T, XM_011522985.1:c.23G>T, XM_047433893.1:c.23G>T, XM_047433896.1:c.23G>T, XM_047433897.1:c.23G>T, XM_047433895.1:c.23G>T, XM_047433894.1:c.23G>T, XM_047433898.1:c.23G>T, XM_047433899.1:c.-724G>T, NP_001123199.1:p.Gly8Val, NP_001123203.1:p.Gly8Val, NP_001123201.1:p.Gly8Val, NP_001123200.1:p.Gly8Val, XP_011521289.1:p.Gly8Val, XP_011521288.1:p.Gly8Val, XP_011521290.1:p.Gly8Val, XP_011521287.1:p.Gly8Val, XP_047289849.1:p.Gly8Val, XP_047289852.1:p.Gly8Val, XP_047289853.1:p.Gly8Val, XP_047289851.1:p.Gly8Val, XP_047289850.1:p.Gly8Val, XP_047289854.1:p.Gly8Val

                            14.

                            rs1483048112 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>A [Show Flanks]
                              Chromosome:
                              16:67288242 (GRCh38)
                              16:67322145 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:67288241:T:A
                              Gene:
                              PLEKHG4 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000016.10:g.67288242T>A, NC_000016.9:g.67322145T>A, NG_008439.2:g.15733T>A, NM_001129727.3:c.3296T>A, NM_001129727.2:c.3296T>A, NM_001129727.1:c.3296T>A, NM_001129731.3:c.3053T>A, NM_001129731.2:c.3053T>A, NM_001129731.1:c.3053T>A, NM_001129729.3:c.3296T>A, NM_001129729.2:c.3296T>A, NM_001129729.1:c.3296T>A, NM_001129728.2:c.3296T>A, NM_001129728.1:c.3296T>A, NG_053040.1:g.43517A>T, NM_015432.3:c.3296T>A, XM_011522987.3:c.3296T>A, XM_011522987.2:c.3296T>A, XM_011522987.1:c.3296T>A, XM_011522986.3:c.3296T>A, XM_011522986.2:c.3296T>A, XM_011522986.1:c.3296T>A, XM_011522988.3:c.3296T>A, XM_011522988.2:c.3296T>A, XM_011522988.1:c.3296T>A, XM_011522985.3:c.3296T>A, XM_011522985.2:c.3296T>A, XM_011522985.1:c.3296T>A, XM_047433893.1:c.3200T>A, XM_047433896.1:c.3200T>A, XM_047433897.1:c.3200T>A, XM_047433895.1:c.3200T>A, XM_047433894.1:c.3200T>A, XM_047433898.1:c.3296T>A, XM_047433899.1:c.2717T>A, NP_001123199.1:p.Leu1099His, NP_001123203.1:p.Leu1018His, NP_001123201.1:p.Leu1099His, NP_001123200.1:p.Leu1099His, XP_011521289.1:p.Leu1099His, XP_011521288.1:p.Leu1099His, XP_011521290.1:p.Leu1099His, XP_011521287.1:p.Leu1099His, XP_047289849.1:p.Leu1067His, XP_047289852.1:p.Leu1067His, XP_047289853.1:p.Leu1067His, XP_047289851.1:p.Leu1067His, XP_047289850.1:p.Leu1067His, XP_047289854.1:p.Leu1099His, XP_047289855.1:p.Leu906His

                              15.

                              rs1481828202 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                16:67288199 (GRCh38)
                                16:67322102 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:67288198:C:A
                                Gene:
                                PLEKHG4 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.67288199C>A, NC_000016.9:g.67322102C>A, NG_008439.2:g.15690C>A, NM_001129727.3:c.3253C>A, NM_001129727.2:c.3253C>A, NM_001129727.1:c.3253C>A, NM_001129731.3:c.3010C>A, NM_001129731.2:c.3010C>A, NM_001129731.1:c.3010C>A, NM_001129729.3:c.3253C>A, NM_001129729.2:c.3253C>A, NM_001129729.1:c.3253C>A, NM_001129728.2:c.3253C>A, NM_001129728.1:c.3253C>A, NG_053040.1:g.43560G>T, NM_015432.3:c.3253C>A, XM_011522987.3:c.3253C>A, XM_011522987.2:c.3253C>A, XM_011522987.1:c.3253C>A, XM_011522986.3:c.3253C>A, XM_011522986.2:c.3253C>A, XM_011522986.1:c.3253C>A, XM_011522988.3:c.3253C>A, XM_011522988.2:c.3253C>A, XM_011522988.1:c.3253C>A, XM_011522985.3:c.3253C>A, XM_011522985.2:c.3253C>A, XM_011522985.1:c.3253C>A, XM_047433893.1:c.3157C>A, XM_047433896.1:c.3157C>A, XM_047433897.1:c.3157C>A, XM_047433895.1:c.3157C>A, XM_047433894.1:c.3157C>A, XM_047433898.1:c.3253C>A, XM_047433899.1:c.2674C>A, NP_001123199.1:p.Pro1085Thr, NP_001123203.1:p.Pro1004Thr, NP_001123201.1:p.Pro1085Thr, NP_001123200.1:p.Pro1085Thr, XP_011521289.1:p.Pro1085Thr, XP_011521288.1:p.Pro1085Thr, XP_011521290.1:p.Pro1085Thr, XP_011521287.1:p.Pro1085Thr, XP_047289849.1:p.Pro1053Thr, XP_047289852.1:p.Pro1053Thr, XP_047289853.1:p.Pro1053Thr, XP_047289851.1:p.Pro1053Thr, XP_047289850.1:p.Pro1053Thr, XP_047289854.1:p.Pro1085Thr, XP_047289855.1:p.Pro892Thr

                                16.

                                rs1481771514 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->CAA [Show Flanks]
                                  Chromosome:
                                  16:67286898 (GRCh38)
                                  16:67320802 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:67286898::CAA
                                  Gene:
                                  PLEKHG4 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,inframe_insertion
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CAA=0./0 (ALFA)
                                  CAA=0.000004/1 (GnomAD_exomes)
                                  CAA=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.67286898_67286899insCAA, NC_000016.9:g.67320801_67320802insCAA, NG_008439.2:g.14389_14390insCAA, NM_001129727.3:c.2904_2905insCAA, NM_001129727.2:c.2904_2905insCAA, NM_001129727.1:c.2904_2905insCAA, NM_001129731.3:c.2661_2662insCAA, NM_001129731.2:c.2661_2662insCAA, NM_001129731.1:c.2661_2662insCAA, NM_001129729.3:c.2904_2905insCAA, NM_001129729.2:c.2904_2905insCAA, NM_001129729.1:c.2904_2905insCAA, NM_001129728.2:c.2904_2905insCAA, NM_001129728.1:c.2904_2905insCAA, NM_015432.3:c.2904_2905insCAA, XM_011522987.3:c.2904_2905insCAA, XM_011522987.2:c.2904_2905insCAA, XM_011522987.1:c.2904_2905insCAA, XM_011522986.3:c.2904_2905insCAA, XM_011522986.2:c.2904_2905insCAA, XM_011522986.1:c.2904_2905insCAA, XM_011522988.3:c.2904_2905insCAA, XM_011522988.2:c.2904_2905insCAA, XM_011522988.1:c.2904_2905insCAA, XM_011522985.3:c.2904_2905insCAA, XM_011522985.2:c.2904_2905insCAA, XM_011522985.1:c.2904_2905insCAA, XM_047433893.1:c.2808_2809insCAA, XM_047433896.1:c.2808_2809insCAA, XM_047433897.1:c.2808_2809insCAA, XM_047433895.1:c.2808_2809insCAA, XM_047433894.1:c.2808_2809insCAA, XM_047433898.1:c.2904_2905insCAA, XM_047433899.1:c.2325_2326insCAA, NP_001123199.1:p.Ala969_Tyr970insGln, NP_001123203.1:p.Ala888_Tyr889insGln, NP_001123201.1:p.Ala969_Tyr970insGln, NP_001123200.1:p.Ala969_Tyr970insGln, XP_011521289.1:p.Ala969_Tyr970insGln, XP_011521288.1:p.Ala969_Tyr970insGln, XP_011521290.1:p.Ala969_Tyr970insGln, XP_011521287.1:p.Ala969_Tyr970insGln, XP_047289849.1:p.Ala937_Tyr938insGln, XP_047289852.1:p.Ala937_Tyr938insGln, XP_047289853.1:p.Ala937_Tyr938insGln, XP_047289851.1:p.Ala937_Tyr938insGln, XP_047289850.1:p.Ala937_Tyr938insGln, XP_047289854.1:p.Ala969_Tyr970insGln, XP_047289855.1:p.Ala776_Tyr777insGln

                                  17.

                                  rs1481478989 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    16:67280963 (GRCh38)
                                    16:67314866 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:67280962:A:G
                                    Gene:
                                    PLEKHG4 (Varview), LOC124903701 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000016.10:g.67280963A>G, NC_000016.9:g.67314866A>G, NG_008439.2:g.8454A>G, NM_001129727.3:c.677A>G, NM_001129727.2:c.677A>G, NM_001129727.1:c.677A>G, NM_001129731.3:c.434A>G, NM_001129731.2:c.434A>G, NM_001129731.1:c.434A>G, NM_001129729.3:c.677A>G, NM_001129729.2:c.677A>G, NM_001129729.1:c.677A>G, NM_001129728.2:c.677A>G, NM_001129728.1:c.677A>G, NM_015432.3:c.677A>G, XM_011522987.3:c.677A>G, XM_011522987.2:c.677A>G, XM_011522987.1:c.677A>G, XM_011522986.3:c.677A>G, XM_011522986.2:c.677A>G, XM_011522986.1:c.677A>G, XM_011522988.3:c.677A>G, XM_011522988.2:c.677A>G, XM_011522988.1:c.677A>G, XM_011522985.3:c.677A>G, XM_011522985.2:c.677A>G, XM_011522985.1:c.677A>G, XM_047433893.1:c.581A>G, XM_047433896.1:c.581A>G, XM_047433897.1:c.581A>G, XM_047433895.1:c.581A>G, XM_047433894.1:c.581A>G, XM_047433898.1:c.677A>G, XM_047433899.1:c.98A>G, NP_001123199.1:p.Gln226Arg, NP_001123203.1:p.Gln145Arg, NP_001123201.1:p.Gln226Arg, NP_001123200.1:p.Gln226Arg, XP_011521289.1:p.Gln226Arg, XP_011521288.1:p.Gln226Arg, XP_011521290.1:p.Gln226Arg, XP_011521287.1:p.Gln226Arg, XP_047289849.1:p.Gln194Arg, XP_047289852.1:p.Gln194Arg, XP_047289853.1:p.Gln194Arg, XP_047289851.1:p.Gln194Arg, XP_047289850.1:p.Gln194Arg, XP_047289854.1:p.Gln226Arg, XP_047289855.1:p.Gln33Arg

                                    18.

                                    rs1480508274 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      16:67285002 (GRCh38)
                                      16:67318905 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:67285001:G:A
                                      Gene:
                                      PLEKHG4 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      HGVS:
                                      NC_000016.10:g.67285002G>A, NC_000016.9:g.67318905G>A, NG_008439.2:g.12493G>A, NM_001129727.3:c.1982G>A, NM_001129727.2:c.1982G>A, NM_001129727.1:c.1982G>A, NM_001129731.3:c.1739G>A, NM_001129731.2:c.1739G>A, NM_001129731.1:c.1739G>A, NM_001129729.3:c.1982G>A, NM_001129729.2:c.1982G>A, NM_001129729.1:c.1982G>A, NM_001129728.2:c.1982G>A, NM_001129728.1:c.1982G>A, NM_015432.3:c.1982G>A, XM_011522987.3:c.1982G>A, XM_011522987.2:c.1982G>A, XM_011522987.1:c.1982G>A, XM_011522986.3:c.1982G>A, XM_011522986.2:c.1982G>A, XM_011522986.1:c.1982G>A, XM_011522988.3:c.1982G>A, XM_011522988.2:c.1982G>A, XM_011522988.1:c.1982G>A, XM_011522985.3:c.1982G>A, XM_011522985.2:c.1982G>A, XM_011522985.1:c.1982G>A, XM_047433893.1:c.1886G>A, XM_047433896.1:c.1886G>A, XM_047433897.1:c.1886G>A, XM_047433895.1:c.1886G>A, XM_047433894.1:c.1886G>A, XM_047433898.1:c.1982G>A, XM_047433899.1:c.1403G>A, NP_001123199.1:p.Ser661Asn, NP_001123203.1:p.Ser580Asn, NP_001123201.1:p.Ser661Asn, NP_001123200.1:p.Ser661Asn, XP_011521289.1:p.Ser661Asn, XP_011521288.1:p.Ser661Asn, XP_011521290.1:p.Ser661Asn, XP_011521287.1:p.Ser661Asn, XP_047289849.1:p.Ser629Asn, XP_047289852.1:p.Ser629Asn, XP_047289853.1:p.Ser629Asn, XP_047289851.1:p.Ser629Asn, XP_047289850.1:p.Ser629Asn, XP_047289854.1:p.Ser661Asn, XP_047289855.1:p.Ser468Asn

                                      19.

                                      rs1479711866 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:67280178 (GRCh38)
                                        16:67314081 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:67280177:A:G
                                        Gene:
                                        PLEKHG4 (Varview), LOC124903701 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_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_000016.10:g.67280178A>G, NC_000016.9:g.67314081A>G, NG_008439.2:g.7669A>G, NM_001129727.3:c.134A>G, NM_001129727.2:c.134A>G, NM_001129727.1:c.134A>G, NM_001129731.3:c.134A>G, NM_001129731.2:c.134A>G, NM_001129731.1:c.134A>G, NM_001129729.3:c.134A>G, NM_001129729.2:c.134A>G, NM_001129729.1:c.134A>G, NM_001129728.2:c.134A>G, NM_001129728.1:c.134A>G, NM_015432.3:c.134A>G, XM_011522987.3:c.134A>G, XM_011522987.2:c.134A>G, XM_011522987.1:c.134A>G, XM_011522986.3:c.134A>G, XM_011522986.2:c.134A>G, XM_011522986.1:c.134A>G, XM_011522988.3:c.134A>G, XM_011522988.2:c.134A>G, XM_011522988.1:c.134A>G, XM_011522985.3:c.134A>G, XM_011522985.2:c.134A>G, XM_011522985.1:c.134A>G, XM_047433893.1:c.134A>G, XM_047433896.1:c.134A>G, XM_047433897.1:c.134A>G, XM_047433895.1:c.134A>G, XM_047433894.1:c.134A>G, XM_047433898.1:c.134A>G, XM_047433899.1:c.-613A>G, NP_001123199.1:p.Asp45Gly, NP_001123203.1:p.Asp45Gly, NP_001123201.1:p.Asp45Gly, NP_001123200.1:p.Asp45Gly, XP_011521289.1:p.Asp45Gly, XP_011521288.1:p.Asp45Gly, XP_011521290.1:p.Asp45Gly, XP_011521287.1:p.Asp45Gly, XP_047289849.1:p.Asp45Gly, XP_047289852.1:p.Asp45Gly, XP_047289853.1:p.Asp45Gly, XP_047289851.1:p.Asp45Gly, XP_047289850.1:p.Asp45Gly, XP_047289854.1:p.Asp45Gly

                                        20.

                                        rs1479663372 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          16:67280956 (GRCh38)
                                          16:67314859 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:67280955:A:C
                                          Gene:
                                          PLEKHG4 (Varview), LOC124903701 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000016.10:g.67280956A>C, NC_000016.9:g.67314859A>C, NG_008439.2:g.8447A>C, NM_001129727.3:c.670A>C, NM_001129727.2:c.670A>C, NM_001129727.1:c.670A>C, NM_001129731.3:c.427A>C, NM_001129731.2:c.427A>C, NM_001129731.1:c.427A>C, NM_001129729.3:c.670A>C, NM_001129729.2:c.670A>C, NM_001129729.1:c.670A>C, NM_001129728.2:c.670A>C, NM_001129728.1:c.670A>C, NM_015432.3:c.670A>C, XM_011522987.3:c.670A>C, XM_011522987.2:c.670A>C, XM_011522987.1:c.670A>C, XM_011522986.3:c.670A>C, XM_011522986.2:c.670A>C, XM_011522986.1:c.670A>C, XM_011522988.3:c.670A>C, XM_011522988.2:c.670A>C, XM_011522988.1:c.670A>C, XM_011522985.3:c.670A>C, XM_011522985.2:c.670A>C, XM_011522985.1:c.670A>C, XM_047433893.1:c.574A>C, XM_047433896.1:c.574A>C, XM_047433897.1:c.574A>C, XM_047433895.1:c.574A>C, XM_047433894.1:c.574A>C, XM_047433898.1:c.670A>C, XM_047433899.1:c.91A>C, NP_001123199.1:p.Ser224Arg, NP_001123203.1:p.Ser143Arg, NP_001123201.1:p.Ser224Arg, NP_001123200.1:p.Ser224Arg, XP_011521289.1:p.Ser224Arg, XP_011521288.1:p.Ser224Arg, XP_011521290.1:p.Ser224Arg, XP_011521287.1:p.Ser224Arg, XP_047289849.1:p.Ser192Arg, XP_047289852.1:p.Ser192Arg, XP_047289853.1:p.Ser192Arg, XP_047289851.1:p.Ser192Arg, XP_047289850.1:p.Ser192Arg, XP_047289854.1:p.Ser224Arg, XP_047289855.1:p.Ser31Arg

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...