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Items: 1 to 20 of 1776

1.

rs1490967290 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    2:208325556 (GRCh38)
    2:209190280 (GRCh37)
    Canonical SPDI:
    NC_000002.12:208325555:T:C
    Gene:
    PIKFYVE (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.208325556T>C, NC_000002.11:g.209190280T>C, NG_021188.1:g.64290T>C, NM_015040.4:c.2745T>C, NM_015040.3:c.2745T>C, XM_011510778.4:c.2781T>C, XM_011510778.3:c.2781T>C, XM_011510778.2:c.2781T>C, XM_011510778.1:c.2781T>C, XM_011510781.4:c.2763T>C, XM_011510781.3:c.2763T>C, XM_011510781.2:c.2763T>C, XM_011510781.1:c.2763T>C, XM_011510782.4:c.2781T>C, XM_011510782.3:c.2781T>C, XM_011510782.2:c.2781T>C, XM_011510782.1:c.2781T>C, XM_011510783.4:c.2613T>C, XM_011510783.3:c.2613T>C, XM_011510783.2:c.2613T>C, XM_011510783.1:c.2613T>C, XM_011510785.4:c.2595T>C, XM_011510785.3:c.2595T>C, XM_011510785.2:c.2595T>C, XM_011510785.1:c.2595T>C, XM_011510786.4:c.2490T>C, XM_011510786.3:c.2490T>C, XM_011510786.2:c.2490T>C, XM_011510786.1:c.2490T>C, XM_011510792.4:c.2781T>C, XM_011510792.3:c.2781T>C, XM_011510792.2:c.2781T>C, XM_011510792.1:c.2781T>C, XM_011510779.3:c.2781T>C, XM_011510779.2:c.2781T>C, XM_011510779.1:c.2781T>C, XM_011510780.3:c.2778T>C, XM_011510780.2:c.2778T>C, XM_011510780.1:c.2778T>C, XM_011510784.3:c.2610T>C, XM_011510784.2:c.2610T>C, XM_011510784.1:c.2610T>C, XM_011510789.3:c.2304T>C, XM_011510789.2:c.2304T>C, XM_011510789.1:c.2304T>C, XM_017003568.2:c.2727T>C, XM_017003568.1:c.2727T>C, XM_017003569.2:c.2559T>C, XM_017003569.1:c.2559T>C, XM_011510787.2:c.2487T>C, XM_011510787.1:c.2487T>C, XM_011510788.2:c.2454T>C, XM_011510788.1:c.2454T>C, XM_017003570.2:c.2286T>C, XM_017003570.1:c.2286T>C, XM_017003571.2:c.2136T>C, XM_017003571.1:c.2136T>C, XM_017003574.2:c.1788T>C, XM_017003574.1:c.1788T>C, XM_047443667.1:c.2745T>C, XM_047443672.1:c.2577T>C, XM_047443670.1:c.2745T>C, XM_047443671.1:c.2577T>C, XM_047443673.1:c.2727T>C, XM_047443674.1:c.2454T>C, XM_047443676.1:c.2436T>C, XM_047443677.1:c.2577T>C, XM_047443679.1:c.2559T>C, XM_047443680.1:c.2322T>C, XM_047443681.1:c.2454T>C, XM_047443682.1:c.2286T>C, XM_047443686.1:c.2436T>C, XM_047443687.1:c.2268T>C, XM_047443689.1:c.2304T>C, XM_047443690.1:c.2286T>C, XM_047443695.1:c.2118T>C, XM_047443696.1:c.2268T>C, XM_047443698.1:c.1788T>C, XR_007070607.1:n.2951T>C, NM_001002881.1:c.1788T>C

    2.

    rs1490892618 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:208285791 (GRCh38)
      2:209150515 (GRCh37)
      Canonical SPDI:
      NC_000002.12:208285790:A:G
      Gene:
      PIKFYVE (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000002.12:g.208285791A>G, NC_000002.11:g.209150515A>G, NG_021188.1:g.24525A>G, NM_015040.4:c.679A>G, NM_015040.3:c.679A>G, NM_152671.4:c.388A>G, NM_152671.3:c.388A>G, NM_001178000.2:c.679A>G, NM_001178000.1:c.679A>G, XM_011510778.4:c.715A>G, XM_011510778.3:c.715A>G, XM_011510778.2:c.715A>G, XM_011510778.1:c.715A>G, XM_011510781.4:c.715A>G, XM_011510781.3:c.715A>G, XM_011510781.2:c.715A>G, XM_011510781.1:c.715A>G, XM_011510782.4:c.715A>G, XM_011510782.3:c.715A>G, XM_011510782.2:c.715A>G, XM_011510782.1:c.715A>G, XM_011510783.4:c.715A>G, XM_011510783.3:c.715A>G, XM_011510783.2:c.715A>G, XM_011510783.1:c.715A>G, XM_011510785.4:c.715A>G, XM_011510785.3:c.715A>G, XM_011510785.2:c.715A>G, XM_011510785.1:c.715A>G, XM_011510786.4:c.424A>G, XM_011510786.3:c.424A>G, XM_011510786.2:c.424A>G, XM_011510786.1:c.424A>G, XM_011510792.4:c.715A>G, XM_011510792.3:c.715A>G, XM_011510792.2:c.715A>G, XM_011510792.1:c.715A>G, XM_011510779.3:c.715A>G, XM_011510779.2:c.715A>G, XM_011510779.1:c.715A>G, XM_011510780.3:c.712A>G, XM_011510780.2:c.712A>G, XM_011510780.1:c.712A>G, XM_011510784.3:c.712A>G, XM_011510784.2:c.712A>G, XM_011510784.1:c.712A>G, XM_011510789.3:c.238A>G, XM_011510789.2:c.238A>G, XM_011510789.1:c.238A>G, XM_017003568.2:c.679A>G, XM_017003568.1:c.679A>G, XM_017003569.2:c.679A>G, XM_017003569.1:c.679A>G, XM_011510787.2:c.421A>G, XM_011510787.1:c.421A>G, XM_011510788.2:c.388A>G, XM_011510788.1:c.388A>G, XM_017003570.2:c.388A>G, XM_017003570.1:c.388A>G, XM_017003571.2:c.238A>G, XM_017003571.1:c.238A>G, XM_047443667.1:c.679A>G, XM_047443672.1:c.679A>G, XM_047443670.1:c.679A>G, XM_047443671.1:c.679A>G, XM_047443673.1:c.679A>G, XM_047443674.1:c.388A>G, XM_047443676.1:c.388A>G, XM_047443677.1:c.679A>G, XM_047443679.1:c.679A>G, XM_047443680.1:c.424A>G, XM_047443681.1:c.388A>G, XM_047443682.1:c.238A>G, XM_047443686.1:c.388A>G, XM_047443687.1:c.388A>G, XM_047443689.1:c.238A>G, XM_047443690.1:c.388A>G, XM_047443695.1:c.238A>G, XM_047443696.1:c.388A>G, XM_047443698.1:c.-279A>G, XR_007070607.1:n.885A>G, NM_001002881.1:c.-279A>G, NP_055855.2:p.Asn227Asp, NP_689884.1:p.Asn130Asp, NP_001171471.1:p.Asn227Asp, XP_011509080.1:p.Asn239Asp, XP_011509083.1:p.Asn239Asp, XP_011509084.1:p.Asn239Asp, XP_011509085.1:p.Asn239Asp, XP_011509087.1:p.Asn239Asp, XP_011509088.1:p.Asn142Asp, XP_011509094.1:p.Asn239Asp, XP_011509081.1:p.Asn239Asp, XP_011509082.1:p.Asn238Asp, XP_011509086.1:p.Asn238Asp, XP_011509091.1:p.Asn80Asp, XP_016859057.1:p.Asn227Asp, XP_016859058.1:p.Asn227Asp, XP_011509089.1:p.Asn141Asp, XP_011509090.1:p.Asn130Asp, XP_016859059.1:p.Asn130Asp, XP_016859060.1:p.Asn80Asp, XP_047299623.1:p.Asn227Asp, XP_047299628.1:p.Asn227Asp, XP_047299626.1:p.Asn227Asp, XP_047299627.1:p.Asn227Asp, XP_047299629.1:p.Asn227Asp, XP_047299630.1:p.Asn130Asp, XP_047299632.1:p.Asn130Asp, XP_047299633.1:p.Asn227Asp, XP_047299635.1:p.Asn227Asp, XP_047299636.1:p.Asn142Asp, XP_047299637.1:p.Asn130Asp, XP_047299638.1:p.Asn80Asp, XP_047299642.1:p.Asn130Asp, XP_047299643.1:p.Asn130Asp, XP_047299645.1:p.Asn80Asp, XP_047299646.1:p.Asn130Asp, XP_047299651.1:p.Asn80Asp, XP_047299652.1:p.Asn130Asp

      3.

      rs1490784389 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:208354149 (GRCh38)
        2:209218873 (GRCh37)
        Canonical SPDI:
        NC_000002.12:208354148:T:C
        Gene:
        PIKFYVE (Varview)
        Functional Consequence:
        downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000002.12:g.208354149T>C, NC_000002.11:g.209218873T>C, NG_021188.1:g.92883T>C, NM_015040.4:c.6096T>C, NM_015040.3:c.6096T>C, XM_011510778.4:c.6132T>C, XM_011510778.3:c.6132T>C, XM_011510778.2:c.6132T>C, XM_011510778.1:c.6132T>C, XM_011510781.4:c.6114T>C, XM_011510781.3:c.6114T>C, XM_011510781.2:c.6114T>C, XM_011510781.1:c.6114T>C, XM_011510782.4:c.5967T>C, XM_011510782.3:c.5967T>C, XM_011510782.2:c.5967T>C, XM_011510782.1:c.5967T>C, XM_011510783.4:c.5964T>C, XM_011510783.3:c.5964T>C, XM_011510783.2:c.5964T>C, XM_011510783.1:c.5964T>C, XM_011510785.4:c.5946T>C, XM_011510785.3:c.5946T>C, XM_011510785.2:c.5946T>C, XM_011510785.1:c.5946T>C, XM_011510786.4:c.5841T>C, XM_011510786.3:c.5841T>C, XM_011510786.2:c.5841T>C, XM_011510786.1:c.5841T>C, XM_011510779.3:c.6132T>C, XM_011510779.2:c.6132T>C, XM_011510779.1:c.6132T>C, XM_011510780.3:c.6129T>C, XM_011510780.2:c.6129T>C, XM_011510780.1:c.6129T>C, XM_011510784.3:c.5961T>C, XM_011510784.2:c.5961T>C, XM_011510784.1:c.5961T>C, XM_011510789.3:c.5655T>C, XM_011510789.2:c.5655T>C, XM_011510789.1:c.5655T>C, XM_017003568.2:c.6078T>C, XM_017003568.1:c.6078T>C, XM_017003569.2:c.5910T>C, XM_017003569.1:c.5910T>C, XM_011510787.2:c.5838T>C, XM_011510787.1:c.5838T>C, XM_011510788.2:c.5805T>C, XM_011510788.1:c.5805T>C, XM_017003570.2:c.5637T>C, XM_017003570.1:c.5637T>C, XM_017003571.2:c.5487T>C, XM_017003571.1:c.5487T>C, XM_017003574.2:c.5139T>C, XM_017003574.1:c.5139T>C, XM_047443667.1:c.6096T>C, XM_047443672.1:c.5928T>C, XM_047443670.1:c.5931T>C, XM_047443671.1:c.5928T>C, XM_047443673.1:c.5913T>C, XM_047443674.1:c.5805T>C, XM_047443676.1:c.5787T>C, XM_047443677.1:c.5763T>C, XM_047443679.1:c.5745T>C, XM_047443680.1:c.5673T>C, XM_047443681.1:c.5640T>C, XM_047443682.1:c.5637T>C, XM_047443686.1:c.5622T>C, XM_047443687.1:c.5619T>C, XM_047443689.1:c.5490T>C, XM_047443690.1:c.5472T>C, XM_047443695.1:c.5469T>C, XM_047443696.1:c.5454T>C, XM_047443698.1:c.5139T>C, NM_001002881.1:c.5139T>C

        4.

        rs1490501268 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:208317871 (GRCh38)
          2:209182595 (GRCh37)
          Canonical SPDI:
          NC_000002.12:208317870:C:T
          Gene:
          PIKFYVE (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.208317871C>T, NC_000002.11:g.209182595C>T, NG_021188.1:g.56605C>T, NM_015040.4:c.2012C>T, NM_015040.3:c.2012C>T, XM_011510778.4:c.2048C>T, XM_011510778.3:c.2048C>T, XM_011510778.2:c.2048C>T, XM_011510778.1:c.2048C>T, XM_011510781.4:c.2030C>T, XM_011510781.3:c.2030C>T, XM_011510781.2:c.2030C>T, XM_011510781.1:c.2030C>T, XM_011510782.4:c.2048C>T, XM_011510782.3:c.2048C>T, XM_011510782.2:c.2048C>T, XM_011510782.1:c.2048C>T, XM_011510783.4:c.1880C>T, XM_011510783.3:c.1880C>T, XM_011510783.2:c.1880C>T, XM_011510783.1:c.1880C>T, XM_011510785.4:c.1862C>T, XM_011510785.3:c.1862C>T, XM_011510785.2:c.1862C>T, XM_011510785.1:c.1862C>T, XM_011510786.4:c.1757C>T, XM_011510786.3:c.1757C>T, XM_011510786.2:c.1757C>T, XM_011510786.1:c.1757C>T, XM_011510792.4:c.2048C>T, XM_011510792.3:c.2048C>T, XM_011510792.2:c.2048C>T, XM_011510792.1:c.2048C>T, XM_011510779.3:c.2048C>T, XM_011510779.2:c.2048C>T, XM_011510779.1:c.2048C>T, XM_011510780.3:c.2045C>T, XM_011510780.2:c.2045C>T, XM_011510780.1:c.2045C>T, XM_011510784.3:c.1877C>T, XM_011510784.2:c.1877C>T, XM_011510784.1:c.1877C>T, XM_011510789.3:c.1571C>T, XM_011510789.2:c.1571C>T, XM_011510789.1:c.1571C>T, XM_017003568.2:c.1994C>T, XM_017003568.1:c.1994C>T, XM_017003569.2:c.1826C>T, XM_017003569.1:c.1826C>T, XM_011510787.2:c.1754C>T, XM_011510787.1:c.1754C>T, XM_011510788.2:c.1721C>T, XM_011510788.1:c.1721C>T, XM_017003570.2:c.1553C>T, XM_017003570.1:c.1553C>T, XM_017003571.2:c.1403C>T, XM_017003571.1:c.1403C>T, XM_017003574.2:c.1055C>T, XM_017003574.1:c.1055C>T, XM_047443667.1:c.2012C>T, XM_047443672.1:c.1844C>T, XM_047443670.1:c.2012C>T, XM_047443671.1:c.1844C>T, XM_047443673.1:c.1994C>T, XM_047443674.1:c.1721C>T, XM_047443676.1:c.1703C>T, XM_047443677.1:c.1844C>T, XM_047443679.1:c.1826C>T, XM_047443680.1:c.1589C>T, XM_047443681.1:c.1721C>T, XM_047443682.1:c.1553C>T, XM_047443686.1:c.1703C>T, XM_047443687.1:c.1535C>T, XM_047443689.1:c.1571C>T, XM_047443690.1:c.1553C>T, XM_047443695.1:c.1385C>T, XM_047443696.1:c.1535C>T, XM_047443698.1:c.1055C>T, XR_007070607.1:n.2218C>T, NM_001002881.1:c.1055C>T, NP_055855.2:p.Pro671Leu, XP_011509080.1:p.Pro683Leu, XP_011509083.1:p.Pro677Leu, XP_011509084.1:p.Pro683Leu, XP_011509085.1:p.Pro627Leu, XP_011509087.1:p.Pro621Leu, XP_011509088.1:p.Pro586Leu, XP_011509094.1:p.Pro683Leu, XP_011509081.1:p.Pro683Leu, XP_011509082.1:p.Pro682Leu, XP_011509086.1:p.Pro626Leu, XP_011509091.1:p.Pro524Leu, XP_016859057.1:p.Pro665Leu, XP_016859058.1:p.Pro609Leu, XP_011509089.1:p.Pro585Leu, XP_011509090.1:p.Pro574Leu, XP_016859059.1:p.Pro518Leu, XP_016859060.1:p.Pro468Leu, XP_016859063.1:p.Pro352Leu, XP_047299623.1:p.Pro671Leu, XP_047299628.1:p.Pro615Leu, XP_047299626.1:p.Pro671Leu, XP_047299627.1:p.Pro615Leu, XP_047299629.1:p.Pro665Leu, XP_047299630.1:p.Pro574Leu, XP_047299632.1:p.Pro568Leu, XP_047299633.1:p.Pro615Leu, XP_047299635.1:p.Pro609Leu, XP_047299636.1:p.Pro530Leu, XP_047299637.1:p.Pro574Leu, XP_047299638.1:p.Pro518Leu, XP_047299642.1:p.Pro568Leu, XP_047299643.1:p.Pro512Leu, XP_047299645.1:p.Pro524Leu, XP_047299646.1:p.Pro518Leu, XP_047299651.1:p.Pro462Leu, XP_047299652.1:p.Pro512Leu, XP_047299654.1:p.Pro352Leu

          5.

          rs1490175874 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C,G [Show Flanks]
            Chromosome:
            2:208324990 (GRCh38)
            2:209189714 (GRCh37)
            Canonical SPDI:
            NC_000002.12:208324989:T:C,NC_000002.12:208324989:T:G
            Gene:
            PIKFYVE (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000002.12:g.208324990T>C, NC_000002.12:g.208324990T>G, NC_000002.11:g.209189714T>C, NC_000002.11:g.209189714T>G, NG_021188.1:g.63724T>C, NG_021188.1:g.63724T>G, NM_015040.4:c.2411T>C, NM_015040.4:c.2411T>G, NM_015040.3:c.2411T>C, NM_015040.3:c.2411T>G, XM_011510778.4:c.2447T>C, XM_011510778.4:c.2447T>G, XM_011510778.3:c.2447T>C, XM_011510778.3:c.2447T>G, XM_011510778.2:c.2447T>C, XM_011510778.2:c.2447T>G, XM_011510778.1:c.2447T>C, XM_011510778.1:c.2447T>G, XM_011510781.4:c.2429T>C, XM_011510781.4:c.2429T>G, XM_011510781.3:c.2429T>C, XM_011510781.3:c.2429T>G, XM_011510781.2:c.2429T>C, XM_011510781.2:c.2429T>G, XM_011510781.1:c.2429T>C, XM_011510781.1:c.2429T>G, XM_011510782.4:c.2447T>C, XM_011510782.4:c.2447T>G, XM_011510782.3:c.2447T>C, XM_011510782.3:c.2447T>G, XM_011510782.2:c.2447T>C, XM_011510782.2:c.2447T>G, XM_011510782.1:c.2447T>C, XM_011510782.1:c.2447T>G, XM_011510783.4:c.2279T>C, XM_011510783.4:c.2279T>G, XM_011510783.3:c.2279T>C, XM_011510783.3:c.2279T>G, XM_011510783.2:c.2279T>C, XM_011510783.2:c.2279T>G, XM_011510783.1:c.2279T>C, XM_011510783.1:c.2279T>G, XM_011510785.4:c.2261T>C, XM_011510785.4:c.2261T>G, XM_011510785.3:c.2261T>C, XM_011510785.3:c.2261T>G, XM_011510785.2:c.2261T>C, XM_011510785.2:c.2261T>G, XM_011510785.1:c.2261T>C, XM_011510785.1:c.2261T>G, XM_011510786.4:c.2156T>C, XM_011510786.4:c.2156T>G, XM_011510786.3:c.2156T>C, XM_011510786.3:c.2156T>G, XM_011510786.2:c.2156T>C, XM_011510786.2:c.2156T>G, XM_011510786.1:c.2156T>C, XM_011510786.1:c.2156T>G, XM_011510792.4:c.2447T>C, XM_011510792.4:c.2447T>G, XM_011510792.3:c.2447T>C, XM_011510792.3:c.2447T>G, XM_011510792.2:c.2447T>C, XM_011510792.2:c.2447T>G, XM_011510792.1:c.2447T>C, XM_011510792.1:c.2447T>G, XM_011510779.3:c.2447T>C, XM_011510779.3:c.2447T>G, XM_011510779.2:c.2447T>C, XM_011510779.2:c.2447T>G, XM_011510779.1:c.2447T>C, XM_011510779.1:c.2447T>G, XM_011510780.3:c.2444T>C, XM_011510780.3:c.2444T>G, XM_011510780.2:c.2444T>C, XM_011510780.2:c.2444T>G, XM_011510780.1:c.2444T>C, XM_011510780.1:c.2444T>G, XM_011510784.3:c.2276T>C, XM_011510784.3:c.2276T>G, XM_011510784.2:c.2276T>C, XM_011510784.2:c.2276T>G, XM_011510784.1:c.2276T>C, XM_011510784.1:c.2276T>G, XM_011510789.3:c.1970T>C, XM_011510789.3:c.1970T>G, XM_011510789.2:c.1970T>C, XM_011510789.2:c.1970T>G, XM_011510789.1:c.1970T>C, XM_011510789.1:c.1970T>G, XM_017003568.2:c.2393T>C, XM_017003568.2:c.2393T>G, XM_017003568.1:c.2393T>C, XM_017003568.1:c.2393T>G, XM_017003569.2:c.2225T>C, XM_017003569.2:c.2225T>G, XM_017003569.1:c.2225T>C, XM_017003569.1:c.2225T>G, XM_011510787.2:c.2153T>C, XM_011510787.2:c.2153T>G, XM_011510787.1:c.2153T>C, XM_011510787.1:c.2153T>G, XM_011510788.2:c.2120T>C, XM_011510788.2:c.2120T>G, XM_011510788.1:c.2120T>C, XM_011510788.1:c.2120T>G, XM_017003570.2:c.1952T>C, XM_017003570.2:c.1952T>G, XM_017003570.1:c.1952T>C, XM_017003570.1:c.1952T>G, XM_017003571.2:c.1802T>C, XM_017003571.2:c.1802T>G, XM_017003571.1:c.1802T>C, XM_017003571.1:c.1802T>G, XM_017003574.2:c.1454T>C, XM_017003574.2:c.1454T>G, XM_017003574.1:c.1454T>C, XM_017003574.1:c.1454T>G, XM_047443667.1:c.2411T>C, XM_047443667.1:c.2411T>G, XM_047443672.1:c.2243T>C, XM_047443672.1:c.2243T>G, XM_047443670.1:c.2411T>C, XM_047443670.1:c.2411T>G, XM_047443671.1:c.2243T>C, XM_047443671.1:c.2243T>G, XM_047443673.1:c.2393T>C, XM_047443673.1:c.2393T>G, XM_047443674.1:c.2120T>C, XM_047443674.1:c.2120T>G, XM_047443676.1:c.2102T>C, XM_047443676.1:c.2102T>G, XM_047443677.1:c.2243T>C, XM_047443677.1:c.2243T>G, XM_047443679.1:c.2225T>C, XM_047443679.1:c.2225T>G, XM_047443680.1:c.1988T>C, XM_047443680.1:c.1988T>G, XM_047443681.1:c.2120T>C, XM_047443681.1:c.2120T>G, XM_047443682.1:c.1952T>C, XM_047443682.1:c.1952T>G, XM_047443686.1:c.2102T>C, XM_047443686.1:c.2102T>G, XM_047443687.1:c.1934T>C, XM_047443687.1:c.1934T>G, XM_047443689.1:c.1970T>C, XM_047443689.1:c.1970T>G, XM_047443690.1:c.1952T>C, XM_047443690.1:c.1952T>G, XM_047443695.1:c.1784T>C, XM_047443695.1:c.1784T>G, XM_047443696.1:c.1934T>C, XM_047443696.1:c.1934T>G, XM_047443698.1:c.1454T>C, XM_047443698.1:c.1454T>G, XR_007070607.1:n.2617T>C, XR_007070607.1:n.2617T>G, NM_001002881.1:c.1454T>C, NM_001002881.1:c.1454T>G, NP_055855.2:p.Leu804Pro, NP_055855.2:p.Leu804Arg, XP_011509080.1:p.Leu816Pro, XP_011509080.1:p.Leu816Arg, XP_011509083.1:p.Leu810Pro, XP_011509083.1:p.Leu810Arg, XP_011509084.1:p.Leu816Pro, XP_011509084.1:p.Leu816Arg, XP_011509085.1:p.Leu760Pro, XP_011509085.1:p.Leu760Arg, XP_011509087.1:p.Leu754Pro, XP_011509087.1:p.Leu754Arg, XP_011509088.1:p.Leu719Pro, XP_011509088.1:p.Leu719Arg, XP_011509094.1:p.Leu816Pro, XP_011509094.1:p.Leu816Arg, XP_011509081.1:p.Leu816Pro, XP_011509081.1:p.Leu816Arg, XP_011509082.1:p.Leu815Pro, XP_011509082.1:p.Leu815Arg, XP_011509086.1:p.Leu759Pro, XP_011509086.1:p.Leu759Arg, XP_011509091.1:p.Leu657Pro, XP_011509091.1:p.Leu657Arg, XP_016859057.1:p.Leu798Pro, XP_016859057.1:p.Leu798Arg, XP_016859058.1:p.Leu742Pro, XP_016859058.1:p.Leu742Arg, XP_011509089.1:p.Leu718Pro, XP_011509089.1:p.Leu718Arg, XP_011509090.1:p.Leu707Pro, XP_011509090.1:p.Leu707Arg, XP_016859059.1:p.Leu651Pro, XP_016859059.1:p.Leu651Arg, XP_016859060.1:p.Leu601Pro, XP_016859060.1:p.Leu601Arg, XP_016859063.1:p.Leu485Pro, XP_016859063.1:p.Leu485Arg, XP_047299623.1:p.Leu804Pro, XP_047299623.1:p.Leu804Arg, XP_047299628.1:p.Leu748Pro, XP_047299628.1:p.Leu748Arg, XP_047299626.1:p.Leu804Pro, XP_047299626.1:p.Leu804Arg, XP_047299627.1:p.Leu748Pro, XP_047299627.1:p.Leu748Arg, XP_047299629.1:p.Leu798Pro, XP_047299629.1:p.Leu798Arg, XP_047299630.1:p.Leu707Pro, XP_047299630.1:p.Leu707Arg, XP_047299632.1:p.Leu701Pro, XP_047299632.1:p.Leu701Arg, XP_047299633.1:p.Leu748Pro, XP_047299633.1:p.Leu748Arg, XP_047299635.1:p.Leu742Pro, XP_047299635.1:p.Leu742Arg, XP_047299636.1:p.Leu663Pro, XP_047299636.1:p.Leu663Arg, XP_047299637.1:p.Leu707Pro, XP_047299637.1:p.Leu707Arg, XP_047299638.1:p.Leu651Pro, XP_047299638.1:p.Leu651Arg, XP_047299642.1:p.Leu701Pro, XP_047299642.1:p.Leu701Arg, XP_047299643.1:p.Leu645Pro, XP_047299643.1:p.Leu645Arg, XP_047299645.1:p.Leu657Pro, XP_047299645.1:p.Leu657Arg, XP_047299646.1:p.Leu651Pro, XP_047299646.1:p.Leu651Arg, XP_047299651.1:p.Leu595Pro, XP_047299651.1:p.Leu595Arg, XP_047299652.1:p.Leu645Pro, XP_047299652.1:p.Leu645Arg, XP_047299654.1:p.Leu485Pro, XP_047299654.1:p.Leu485Arg

            6.

            rs1489962245 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              2:208355299 (GRCh38)
              2:209220023 (GRCh37)
              Canonical SPDI:
              NC_000002.12:208355298:T:A
              Gene:
              PIKFYVE (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0.000111/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.208355299T>A, NC_000002.11:g.209220023T>A, NG_021188.1:g.94033T>A, NM_015040.4:c.6291T>A, NM_015040.3:c.6291T>A, XM_011510778.4:c.6327T>A, XM_011510778.3:c.6327T>A, XM_011510778.2:c.6327T>A, XM_011510778.1:c.6327T>A, XM_011510781.4:c.6309T>A, XM_011510781.3:c.6309T>A, XM_011510781.2:c.6309T>A, XM_011510781.1:c.6309T>A, XM_011510782.4:c.6162T>A, XM_011510782.3:c.6162T>A, XM_011510782.2:c.6162T>A, XM_011510782.1:c.6162T>A, XM_011510783.4:c.6159T>A, XM_011510783.3:c.6159T>A, XM_011510783.2:c.6159T>A, XM_011510783.1:c.6159T>A, XM_011510785.4:c.6141T>A, XM_011510785.3:c.6141T>A, XM_011510785.2:c.6141T>A, XM_011510785.1:c.6141T>A, XM_011510786.4:c.6036T>A, XM_011510786.3:c.6036T>A, XM_011510786.2:c.6036T>A, XM_011510786.1:c.6036T>A, XM_011510779.3:c.6327T>A, XM_011510779.2:c.6327T>A, XM_011510779.1:c.6327T>A, XM_011510780.3:c.6324T>A, XM_011510780.2:c.6324T>A, XM_011510780.1:c.6324T>A, XM_011510784.3:c.6156T>A, XM_011510784.2:c.6156T>A, XM_011510784.1:c.6156T>A, XM_011510789.3:c.5850T>A, XM_011510789.2:c.5850T>A, XM_011510789.1:c.5850T>A, XM_017003568.2:c.6273T>A, XM_017003568.1:c.6273T>A, XM_017003569.2:c.6105T>A, XM_017003569.1:c.6105T>A, XM_011510787.2:c.6033T>A, XM_011510787.1:c.6033T>A, XM_011510788.2:c.6000T>A, XM_011510788.1:c.6000T>A, XM_017003570.2:c.5832T>A, XM_017003570.1:c.5832T>A, XM_017003571.2:c.5682T>A, XM_017003571.1:c.5682T>A, XM_017003574.2:c.5334T>A, XM_017003574.1:c.5334T>A, XM_047443667.1:c.6291T>A, XM_047443672.1:c.6123T>A, XM_047443670.1:c.6126T>A, XM_047443671.1:c.6123T>A, XM_047443673.1:c.6108T>A, XM_047443674.1:c.6000T>A, XM_047443676.1:c.5982T>A, XM_047443677.1:c.5958T>A, XM_047443679.1:c.5940T>A, XM_047443680.1:c.5868T>A, XM_047443681.1:c.5835T>A, XM_047443682.1:c.5832T>A, XM_047443686.1:c.5817T>A, XM_047443687.1:c.5814T>A, XM_047443689.1:c.5685T>A, XM_047443690.1:c.5667T>A, XM_047443695.1:c.5664T>A, XM_047443696.1:c.5649T>A, XM_047443698.1:c.5334T>A, NM_001002881.1:c.5334T>A, NP_055855.2:p.Asn2097Lys, XP_011509080.1:p.Asn2109Lys, XP_011509083.1:p.Asn2103Lys, XP_011509084.1:p.Asn2054Lys, XP_011509085.1:p.Asn2053Lys, XP_011509087.1:p.Asn2047Lys, XP_011509088.1:p.Asn2012Lys, XP_011509081.1:p.Asn2109Lys, XP_011509082.1:p.Asn2108Lys, XP_011509086.1:p.Asn2052Lys, XP_011509091.1:p.Asn1950Lys, XP_016859057.1:p.Asn2091Lys, XP_016859058.1:p.Asn2035Lys, XP_011509089.1:p.Asn2011Lys, XP_011509090.1:p.Asn2000Lys, XP_016859059.1:p.Asn1944Lys, XP_016859060.1:p.Asn1894Lys, XP_016859063.1:p.Asn1778Lys, XP_047299623.1:p.Asn2097Lys, XP_047299628.1:p.Asn2041Lys, XP_047299626.1:p.Asn2042Lys, XP_047299627.1:p.Asn2041Lys, XP_047299629.1:p.Asn2036Lys, XP_047299630.1:p.Asn2000Lys, XP_047299632.1:p.Asn1994Lys, XP_047299633.1:p.Asn1986Lys, XP_047299635.1:p.Asn1980Lys, XP_047299636.1:p.Asn1956Lys, XP_047299637.1:p.Asn1945Lys, XP_047299638.1:p.Asn1944Lys, XP_047299642.1:p.Asn1939Lys, XP_047299643.1:p.Asn1938Lys, XP_047299645.1:p.Asn1895Lys, XP_047299646.1:p.Asn1889Lys, XP_047299651.1:p.Asn1888Lys, XP_047299652.1:p.Asn1883Lys, XP_047299654.1:p.Asn1778Lys

              7.

              rs1489431283 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                2:208345189 (GRCh38)
                2:209209913 (GRCh37)
                Canonical SPDI:
                NC_000002.12:208345188:AAA:AA
                Gene:
                PIKFYVE (Varview)
                Functional Consequence:
                non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                -=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.208345191del, NC_000002.11:g.209209915del, NG_021188.1:g.83925del, NM_015040.4:c.5108del, NM_015040.3:c.5108del, XM_011510778.4:c.5144del, XM_011510778.3:c.5144del, XM_011510778.2:c.5144del, XM_011510778.1:c.5144del, XM_011510781.4:c.5126del, XM_011510781.3:c.5126del, XM_011510781.2:c.5126del, XM_011510781.1:c.5126del, XM_011510782.4:c.5144del, XM_011510782.3:c.5144del, XM_011510782.2:c.5144del, XM_011510782.1:c.5144del, XM_011510783.4:c.4976del, XM_011510783.3:c.4976del, XM_011510783.2:c.4976del, XM_011510783.1:c.4976del, XM_011510785.4:c.4958del, XM_011510785.3:c.4958del, XM_011510785.2:c.4958del, XM_011510785.1:c.4958del, XM_011510786.4:c.4853del, XM_011510786.3:c.4853del, XM_011510786.2:c.4853del, XM_011510786.1:c.4853del, XM_011510779.3:c.5144del, XM_011510779.2:c.5144del, XM_011510779.1:c.5144del, XM_011510780.3:c.5141del, XM_011510780.2:c.5141del, XM_011510780.1:c.5141del, XM_011510784.3:c.4973del, XM_011510784.2:c.4973del, XM_011510784.1:c.4973del, XM_011510789.3:c.4667del, XM_011510789.2:c.4667del, XM_011510789.1:c.4667del, XM_017003568.2:c.5090del, XM_017003568.1:c.5090del, XM_017003569.2:c.4922del, XM_017003569.1:c.4922del, XM_011510787.2:c.4850del, XM_011510787.1:c.4850del, XM_011510788.2:c.4817del, XM_011510788.1:c.4817del, XM_017003570.2:c.4649del, XM_017003570.1:c.4649del, XM_017003571.2:c.4499del, XM_017003571.1:c.4499del, XM_017003574.2:c.4151del, XM_017003574.1:c.4151del, XM_047443667.1:c.5108del, XM_047443672.1:c.4940del, XM_047443670.1:c.5108del, XM_047443671.1:c.4940del, XM_047443673.1:c.5090del, XM_047443674.1:c.4817del, XM_047443676.1:c.4799del, XM_047443677.1:c.4940del, XM_047443679.1:c.4922del, XM_047443680.1:c.4685del, XM_047443681.1:c.4817del, XM_047443682.1:c.4649del, XM_047443686.1:c.4799del, XM_047443687.1:c.4631del, XM_047443689.1:c.4667del, XM_047443690.1:c.4649del, XM_047443695.1:c.4481del, XM_047443696.1:c.4631del, XM_047443698.1:c.4151del, XR_007070607.1:n.5314del, NM_001002881.1:c.4151del, NP_055855.2:p.Asn1703fs, XP_011509080.1:p.Asn1715fs, XP_011509083.1:p.Asn1709fs, XP_011509084.1:p.Asn1715fs, XP_011509085.1:p.Asn1659fs, XP_011509087.1:p.Asn1653fs, XP_011509088.1:p.Asn1618fs, XP_011509081.1:p.Asn1715fs, XP_011509082.1:p.Asn1714fs, XP_011509086.1:p.Asn1658fs, XP_011509091.1:p.Asn1556fs, XP_016859057.1:p.Asn1697fs, XP_016859058.1:p.Asn1641fs, XP_011509089.1:p.Asn1617fs, XP_011509090.1:p.Asn1606fs, XP_016859059.1:p.Asn1550fs, XP_016859060.1:p.Asn1500fs, XP_016859063.1:p.Asn1384fs, XP_047299623.1:p.Asn1703fs, XP_047299628.1:p.Asn1647fs, XP_047299626.1:p.Asn1703fs, XP_047299627.1:p.Asn1647fs, XP_047299629.1:p.Asn1697fs, XP_047299630.1:p.Asn1606fs, XP_047299632.1:p.Asn1600fs, XP_047299633.1:p.Asn1647fs, XP_047299635.1:p.Asn1641fs, XP_047299636.1:p.Asn1562fs, XP_047299637.1:p.Asn1606fs, XP_047299638.1:p.Asn1550fs, XP_047299642.1:p.Asn1600fs, XP_047299643.1:p.Asn1544fs, XP_047299645.1:p.Asn1556fs, XP_047299646.1:p.Asn1550fs, XP_047299651.1:p.Asn1494fs, XP_047299652.1:p.Asn1544fs, XP_047299654.1:p.Asn1384fs

                8.

                rs1488750996 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:208285882 (GRCh38)
                  2:209150606 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:208285881:G:A
                  Gene:
                  PIKFYVE (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_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_000002.12:g.208285882G>A, NC_000002.11:g.209150606G>A, NG_021188.1:g.24616G>A, NM_015040.4:c.770G>A, NM_015040.3:c.770G>A, NM_152671.4:c.479G>A, NM_152671.3:c.479G>A, NM_001178000.2:c.770G>A, NM_001178000.1:c.770G>A, XM_011510778.4:c.806G>A, XM_011510778.3:c.806G>A, XM_011510778.2:c.806G>A, XM_011510778.1:c.806G>A, XM_011510781.4:c.806G>A, XM_011510781.3:c.806G>A, XM_011510781.2:c.806G>A, XM_011510781.1:c.806G>A, XM_011510782.4:c.806G>A, XM_011510782.3:c.806G>A, XM_011510782.2:c.806G>A, XM_011510782.1:c.806G>A, XM_011510783.4:c.806G>A, XM_011510783.3:c.806G>A, XM_011510783.2:c.806G>A, XM_011510783.1:c.806G>A, XM_011510785.4:c.806G>A, XM_011510785.3:c.806G>A, XM_011510785.2:c.806G>A, XM_011510785.1:c.806G>A, XM_011510786.4:c.515G>A, XM_011510786.3:c.515G>A, XM_011510786.2:c.515G>A, XM_011510786.1:c.515G>A, XM_011510792.4:c.806G>A, XM_011510792.3:c.806G>A, XM_011510792.2:c.806G>A, XM_011510792.1:c.806G>A, XM_011510779.3:c.806G>A, XM_011510779.2:c.806G>A, XM_011510779.1:c.806G>A, XM_011510780.3:c.803G>A, XM_011510780.2:c.803G>A, XM_011510780.1:c.803G>A, XM_011510784.3:c.803G>A, XM_011510784.2:c.803G>A, XM_011510784.1:c.803G>A, XM_011510789.3:c.329G>A, XM_011510789.2:c.329G>A, XM_011510789.1:c.329G>A, XM_017003568.2:c.770G>A, XM_017003568.1:c.770G>A, XM_017003569.2:c.770G>A, XM_017003569.1:c.770G>A, XM_011510787.2:c.512G>A, XM_011510787.1:c.512G>A, XM_011510788.2:c.479G>A, XM_011510788.1:c.479G>A, XM_017003570.2:c.479G>A, XM_017003570.1:c.479G>A, XM_017003571.2:c.329G>A, XM_017003571.1:c.329G>A, XM_047443667.1:c.770G>A, XM_047443672.1:c.770G>A, XM_047443670.1:c.770G>A, XM_047443671.1:c.770G>A, XM_047443673.1:c.770G>A, XM_047443674.1:c.479G>A, XM_047443676.1:c.479G>A, XM_047443677.1:c.770G>A, XM_047443679.1:c.770G>A, XM_047443680.1:c.515G>A, XM_047443681.1:c.479G>A, XM_047443682.1:c.329G>A, XM_047443686.1:c.479G>A, XM_047443687.1:c.479G>A, XM_047443689.1:c.329G>A, XM_047443690.1:c.479G>A, XM_047443695.1:c.329G>A, XM_047443696.1:c.479G>A, XM_047443698.1:c.-188G>A, XR_007070607.1:n.976G>A, NM_001002881.1:c.-188G>A, NP_055855.2:p.Ser257Asn, NP_689884.1:p.Ser160Asn, NP_001171471.1:p.Ser257Asn, XP_011509080.1:p.Ser269Asn, XP_011509083.1:p.Ser269Asn, XP_011509084.1:p.Ser269Asn, XP_011509085.1:p.Ser269Asn, XP_011509087.1:p.Ser269Asn, XP_011509088.1:p.Ser172Asn, XP_011509094.1:p.Ser269Asn, XP_011509081.1:p.Ser269Asn, XP_011509082.1:p.Ser268Asn, XP_011509086.1:p.Ser268Asn, XP_011509091.1:p.Ser110Asn, XP_016859057.1:p.Ser257Asn, XP_016859058.1:p.Ser257Asn, XP_011509089.1:p.Ser171Asn, XP_011509090.1:p.Ser160Asn, XP_016859059.1:p.Ser160Asn, XP_016859060.1:p.Ser110Asn, XP_047299623.1:p.Ser257Asn, XP_047299628.1:p.Ser257Asn, XP_047299626.1:p.Ser257Asn, XP_047299627.1:p.Ser257Asn, XP_047299629.1:p.Ser257Asn, XP_047299630.1:p.Ser160Asn, XP_047299632.1:p.Ser160Asn, XP_047299633.1:p.Ser257Asn, XP_047299635.1:p.Ser257Asn, XP_047299636.1:p.Ser172Asn, XP_047299637.1:p.Ser160Asn, XP_047299638.1:p.Ser110Asn, XP_047299642.1:p.Ser160Asn, XP_047299643.1:p.Ser160Asn, XP_047299645.1:p.Ser110Asn, XP_047299646.1:p.Ser160Asn, XP_047299651.1:p.Ser110Asn, XP_047299652.1:p.Ser160Asn

                  9.

                  rs1488607850 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G,T [Show Flanks]
                    Chromosome:
                    2:208325929 (GRCh38)
                    2:209190653 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:208325928:A:G,NC_000002.12:208325928:A:T
                    Gene:
                    PIKFYVE (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    G=0.000004/1 (GnomAD_exomes)
                    A=0.5/1 (SGDP_PRJ)
                    HGVS:
                    NC_000002.12:g.208325929A>G, NC_000002.12:g.208325929A>T, NC_000002.11:g.209190653A>G, NC_000002.11:g.209190653A>T, NG_021188.1:g.64663A>G, NG_021188.1:g.64663A>T, NM_015040.4:c.3118A>G, NM_015040.4:c.3118A>T, NM_015040.3:c.3118A>G, NM_015040.3:c.3118A>T, XM_011510778.4:c.3154A>G, XM_011510778.4:c.3154A>T, XM_011510778.3:c.3154A>G, XM_011510778.3:c.3154A>T, XM_011510778.2:c.3154A>G, XM_011510778.2:c.3154A>T, XM_011510778.1:c.3154A>G, XM_011510778.1:c.3154A>T, XM_011510781.4:c.3136A>G, XM_011510781.4:c.3136A>T, XM_011510781.3:c.3136A>G, XM_011510781.3:c.3136A>T, XM_011510781.2:c.3136A>G, XM_011510781.2:c.3136A>T, XM_011510781.1:c.3136A>G, XM_011510781.1:c.3136A>T, XM_011510782.4:c.3154A>G, XM_011510782.4:c.3154A>T, XM_011510782.3:c.3154A>G, XM_011510782.3:c.3154A>T, XM_011510782.2:c.3154A>G, XM_011510782.2:c.3154A>T, XM_011510782.1:c.3154A>G, XM_011510782.1:c.3154A>T, XM_011510783.4:c.2986A>G, XM_011510783.4:c.2986A>T, XM_011510783.3:c.2986A>G, XM_011510783.3:c.2986A>T, XM_011510783.2:c.2986A>G, XM_011510783.2:c.2986A>T, XM_011510783.1:c.2986A>G, XM_011510783.1:c.2986A>T, XM_011510785.4:c.2968A>G, XM_011510785.4:c.2968A>T, XM_011510785.3:c.2968A>G, XM_011510785.3:c.2968A>T, XM_011510785.2:c.2968A>G, XM_011510785.2:c.2968A>T, XM_011510785.1:c.2968A>G, XM_011510785.1:c.2968A>T, XM_011510786.4:c.2863A>G, XM_011510786.4:c.2863A>T, XM_011510786.3:c.2863A>G, XM_011510786.3:c.2863A>T, XM_011510786.2:c.2863A>G, XM_011510786.2:c.2863A>T, XM_011510786.1:c.2863A>G, XM_011510786.1:c.2863A>T, XM_011510792.4:c.3154A>G, XM_011510792.4:c.3154A>T, XM_011510792.3:c.3154A>G, XM_011510792.3:c.3154A>T, XM_011510792.2:c.3154A>G, XM_011510792.2:c.3154A>T, XM_011510792.1:c.3154A>G, XM_011510792.1:c.3154A>T, XM_011510779.3:c.3154A>G, XM_011510779.3:c.3154A>T, XM_011510779.2:c.3154A>G, XM_011510779.2:c.3154A>T, XM_011510779.1:c.3154A>G, XM_011510779.1:c.3154A>T, XM_011510780.3:c.3151A>G, XM_011510780.3:c.3151A>T, XM_011510780.2:c.3151A>G, XM_011510780.2:c.3151A>T, XM_011510780.1:c.3151A>G, XM_011510780.1:c.3151A>T, XM_011510784.3:c.2983A>G, XM_011510784.3:c.2983A>T, XM_011510784.2:c.2983A>G, XM_011510784.2:c.2983A>T, XM_011510784.1:c.2983A>G, XM_011510784.1:c.2983A>T, XM_011510789.3:c.2677A>G, XM_011510789.3:c.2677A>T, XM_011510789.2:c.2677A>G, XM_011510789.2:c.2677A>T, XM_011510789.1:c.2677A>G, XM_011510789.1:c.2677A>T, XM_017003568.2:c.3100A>G, XM_017003568.2:c.3100A>T, XM_017003568.1:c.3100A>G, XM_017003568.1:c.3100A>T, XM_017003569.2:c.2932A>G, XM_017003569.2:c.2932A>T, XM_017003569.1:c.2932A>G, XM_017003569.1:c.2932A>T, XM_011510787.2:c.2860A>G, XM_011510787.2:c.2860A>T, XM_011510787.1:c.2860A>G, XM_011510787.1:c.2860A>T, XM_011510788.2:c.2827A>G, XM_011510788.2:c.2827A>T, XM_011510788.1:c.2827A>G, XM_011510788.1:c.2827A>T, XM_017003570.2:c.2659A>G, XM_017003570.2:c.2659A>T, XM_017003570.1:c.2659A>G, XM_017003570.1:c.2659A>T, XM_017003571.2:c.2509A>G, XM_017003571.2:c.2509A>T, XM_017003571.1:c.2509A>G, XM_017003571.1:c.2509A>T, XM_017003574.2:c.2161A>G, XM_017003574.2:c.2161A>T, XM_017003574.1:c.2161A>G, XM_017003574.1:c.2161A>T, XM_047443667.1:c.3118A>G, XM_047443667.1:c.3118A>T, XM_047443672.1:c.2950A>G, XM_047443672.1:c.2950A>T, XM_047443670.1:c.3118A>G, XM_047443670.1:c.3118A>T, XM_047443671.1:c.2950A>G, XM_047443671.1:c.2950A>T, XM_047443673.1:c.3100A>G, XM_047443673.1:c.3100A>T, XM_047443674.1:c.2827A>G, XM_047443674.1:c.2827A>T, XM_047443676.1:c.2809A>G, XM_047443676.1:c.2809A>T, XM_047443677.1:c.2950A>G, XM_047443677.1:c.2950A>T, XM_047443679.1:c.2932A>G, XM_047443679.1:c.2932A>T, XM_047443680.1:c.2695A>G, XM_047443680.1:c.2695A>T, XM_047443681.1:c.2827A>G, XM_047443681.1:c.2827A>T, XM_047443682.1:c.2659A>G, XM_047443682.1:c.2659A>T, XM_047443686.1:c.2809A>G, XM_047443686.1:c.2809A>T, XM_047443687.1:c.2641A>G, XM_047443687.1:c.2641A>T, XM_047443689.1:c.2677A>G, XM_047443689.1:c.2677A>T, XM_047443690.1:c.2659A>G, XM_047443690.1:c.2659A>T, XM_047443695.1:c.2491A>G, XM_047443695.1:c.2491A>T, XM_047443696.1:c.2641A>G, XM_047443696.1:c.2641A>T, XM_047443698.1:c.2161A>G, XM_047443698.1:c.2161A>T, XR_007070607.1:n.3324A>G, XR_007070607.1:n.3324A>T, NM_001002881.1:c.2161A>G, NM_001002881.1:c.2161A>T, NP_055855.2:p.Thr1040Ala, NP_055855.2:p.Thr1040Ser, XP_011509080.1:p.Thr1052Ala, XP_011509080.1:p.Thr1052Ser, XP_011509083.1:p.Thr1046Ala, XP_011509083.1:p.Thr1046Ser, XP_011509084.1:p.Thr1052Ala, XP_011509084.1:p.Thr1052Ser, XP_011509085.1:p.Thr996Ala, XP_011509085.1:p.Thr996Ser, XP_011509087.1:p.Thr990Ala, XP_011509087.1:p.Thr990Ser, XP_011509088.1:p.Thr955Ala, XP_011509088.1:p.Thr955Ser, XP_011509094.1:p.Thr1052Ala, XP_011509094.1:p.Thr1052Ser, XP_011509081.1:p.Thr1052Ala, XP_011509081.1:p.Thr1052Ser, XP_011509082.1:p.Thr1051Ala, XP_011509082.1:p.Thr1051Ser, XP_011509086.1:p.Thr995Ala, XP_011509086.1:p.Thr995Ser, XP_011509091.1:p.Thr893Ala, XP_011509091.1:p.Thr893Ser, XP_016859057.1:p.Thr1034Ala, XP_016859057.1:p.Thr1034Ser, XP_016859058.1:p.Thr978Ala, XP_016859058.1:p.Thr978Ser, XP_011509089.1:p.Thr954Ala, XP_011509089.1:p.Thr954Ser, XP_011509090.1:p.Thr943Ala, XP_011509090.1:p.Thr943Ser, XP_016859059.1:p.Thr887Ala, XP_016859059.1:p.Thr887Ser, XP_016859060.1:p.Thr837Ala, XP_016859060.1:p.Thr837Ser, XP_016859063.1:p.Thr721Ala, XP_016859063.1:p.Thr721Ser, XP_047299623.1:p.Thr1040Ala, XP_047299623.1:p.Thr1040Ser, XP_047299628.1:p.Thr984Ala, XP_047299628.1:p.Thr984Ser, XP_047299626.1:p.Thr1040Ala, XP_047299626.1:p.Thr1040Ser, XP_047299627.1:p.Thr984Ala, XP_047299627.1:p.Thr984Ser, XP_047299629.1:p.Thr1034Ala, XP_047299629.1:p.Thr1034Ser, XP_047299630.1:p.Thr943Ala, XP_047299630.1:p.Thr943Ser, XP_047299632.1:p.Thr937Ala, XP_047299632.1:p.Thr937Ser, XP_047299633.1:p.Thr984Ala, XP_047299633.1:p.Thr984Ser, XP_047299635.1:p.Thr978Ala, XP_047299635.1:p.Thr978Ser, XP_047299636.1:p.Thr899Ala, XP_047299636.1:p.Thr899Ser, XP_047299637.1:p.Thr943Ala, XP_047299637.1:p.Thr943Ser, XP_047299638.1:p.Thr887Ala, XP_047299638.1:p.Thr887Ser, XP_047299642.1:p.Thr937Ala, XP_047299642.1:p.Thr937Ser, XP_047299643.1:p.Thr881Ala, XP_047299643.1:p.Thr881Ser, XP_047299645.1:p.Thr893Ala, XP_047299645.1:p.Thr893Ser, XP_047299646.1:p.Thr887Ala, XP_047299646.1:p.Thr887Ser, XP_047299651.1:p.Thr831Ala, XP_047299651.1:p.Thr831Ser, XP_047299652.1:p.Thr881Ala, XP_047299652.1:p.Thr881Ser, XP_047299654.1:p.Thr721Ala, XP_047299654.1:p.Thr721Ser

                    10.

                    rs1487614814 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      2:208353965 (GRCh38)
                      2:209218689 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:208353964:A:G
                      Gene:
                      PIKFYVE (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      HGVS:
                      NC_000002.12:g.208353965A>G, NC_000002.11:g.209218689A>G, NG_021188.1:g.92699A>G, NM_015040.4:c.5912A>G, NM_015040.3:c.5912A>G, XM_011510778.4:c.5948A>G, XM_011510778.3:c.5948A>G, XM_011510778.2:c.5948A>G, XM_011510778.1:c.5948A>G, XM_011510781.4:c.5930A>G, XM_011510781.3:c.5930A>G, XM_011510781.2:c.5930A>G, XM_011510781.1:c.5930A>G, XM_011510782.4:c.5783A>G, XM_011510782.3:c.5783A>G, XM_011510782.2:c.5783A>G, XM_011510782.1:c.5783A>G, XM_011510783.4:c.5780A>G, XM_011510783.3:c.5780A>G, XM_011510783.2:c.5780A>G, XM_011510783.1:c.5780A>G, XM_011510785.4:c.5762A>G, XM_011510785.3:c.5762A>G, XM_011510785.2:c.5762A>G, XM_011510785.1:c.5762A>G, XM_011510786.4:c.5657A>G, XM_011510786.3:c.5657A>G, XM_011510786.2:c.5657A>G, XM_011510786.1:c.5657A>G, XM_011510779.3:c.5948A>G, XM_011510779.2:c.5948A>G, XM_011510779.1:c.5948A>G, XM_011510780.3:c.5945A>G, XM_011510780.2:c.5945A>G, XM_011510780.1:c.5945A>G, XM_011510784.3:c.5777A>G, XM_011510784.2:c.5777A>G, XM_011510784.1:c.5777A>G, XM_011510789.3:c.5471A>G, XM_011510789.2:c.5471A>G, XM_011510789.1:c.5471A>G, XM_017003568.2:c.5894A>G, XM_017003568.1:c.5894A>G, XM_017003569.2:c.5726A>G, XM_017003569.1:c.5726A>G, XM_011510787.2:c.5654A>G, XM_011510787.1:c.5654A>G, XM_011510788.2:c.5621A>G, XM_011510788.1:c.5621A>G, XM_017003570.2:c.5453A>G, XM_017003570.1:c.5453A>G, XM_017003571.2:c.5303A>G, XM_017003571.1:c.5303A>G, XM_017003574.2:c.4955A>G, XM_017003574.1:c.4955A>G, XM_047443667.1:c.5912A>G, XM_047443672.1:c.5744A>G, XM_047443670.1:c.5747A>G, XM_047443671.1:c.5744A>G, XM_047443673.1:c.5729A>G, XM_047443674.1:c.5621A>G, XM_047443676.1:c.5603A>G, XM_047443677.1:c.5579A>G, XM_047443679.1:c.5561A>G, XM_047443680.1:c.5489A>G, XM_047443681.1:c.5456A>G, XM_047443682.1:c.5453A>G, XM_047443686.1:c.5438A>G, XM_047443687.1:c.5435A>G, XM_047443689.1:c.5306A>G, XM_047443690.1:c.5288A>G, XM_047443695.1:c.5285A>G, XM_047443696.1:c.5270A>G, XM_047443698.1:c.4955A>G, XR_007070607.1:n.6014A>G, NM_001002881.1:c.4955A>G, NP_055855.2:p.Asp1971Gly, XP_011509080.1:p.Asp1983Gly, XP_011509083.1:p.Asp1977Gly, XP_011509084.1:p.Asp1928Gly, XP_011509085.1:p.Asp1927Gly, XP_011509087.1:p.Asp1921Gly, XP_011509088.1:p.Asp1886Gly, XP_011509081.1:p.Asp1983Gly, XP_011509082.1:p.Asp1982Gly, XP_011509086.1:p.Asp1926Gly, XP_011509091.1:p.Asp1824Gly, XP_016859057.1:p.Asp1965Gly, XP_016859058.1:p.Asp1909Gly, XP_011509089.1:p.Asp1885Gly, XP_011509090.1:p.Asp1874Gly, XP_016859059.1:p.Asp1818Gly, XP_016859060.1:p.Asp1768Gly, XP_016859063.1:p.Asp1652Gly, XP_047299623.1:p.Asp1971Gly, XP_047299628.1:p.Asp1915Gly, XP_047299626.1:p.Asp1916Gly, XP_047299627.1:p.Asp1915Gly, XP_047299629.1:p.Asp1910Gly, XP_047299630.1:p.Asp1874Gly, XP_047299632.1:p.Asp1868Gly, XP_047299633.1:p.Asp1860Gly, XP_047299635.1:p.Asp1854Gly, XP_047299636.1:p.Asp1830Gly, XP_047299637.1:p.Asp1819Gly, XP_047299638.1:p.Asp1818Gly, XP_047299642.1:p.Asp1813Gly, XP_047299643.1:p.Asp1812Gly, XP_047299645.1:p.Asp1769Gly, XP_047299646.1:p.Asp1763Gly, XP_047299651.1:p.Asp1762Gly, XP_047299652.1:p.Asp1757Gly, XP_047299654.1:p.Asp1652Gly

                      11.

                      rs1487573966 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        2:208325483 (GRCh38)
                        2:209190207 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:208325482:C:T
                        Gene:
                        PIKFYVE (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000002.12:g.208325483C>T, NC_000002.11:g.209190207C>T, NG_021188.1:g.64217C>T, NM_015040.4:c.2672C>T, NM_015040.3:c.2672C>T, XM_011510778.4:c.2708C>T, XM_011510778.3:c.2708C>T, XM_011510778.2:c.2708C>T, XM_011510778.1:c.2708C>T, XM_011510781.4:c.2690C>T, XM_011510781.3:c.2690C>T, XM_011510781.2:c.2690C>T, XM_011510781.1:c.2690C>T, XM_011510782.4:c.2708C>T, XM_011510782.3:c.2708C>T, XM_011510782.2:c.2708C>T, XM_011510782.1:c.2708C>T, XM_011510783.4:c.2540C>T, XM_011510783.3:c.2540C>T, XM_011510783.2:c.2540C>T, XM_011510783.1:c.2540C>T, XM_011510785.4:c.2522C>T, XM_011510785.3:c.2522C>T, XM_011510785.2:c.2522C>T, XM_011510785.1:c.2522C>T, XM_011510786.4:c.2417C>T, XM_011510786.3:c.2417C>T, XM_011510786.2:c.2417C>T, XM_011510786.1:c.2417C>T, XM_011510792.4:c.2708C>T, XM_011510792.3:c.2708C>T, XM_011510792.2:c.2708C>T, XM_011510792.1:c.2708C>T, XM_011510779.3:c.2708C>T, XM_011510779.2:c.2708C>T, XM_011510779.1:c.2708C>T, XM_011510780.3:c.2705C>T, XM_011510780.2:c.2705C>T, XM_011510780.1:c.2705C>T, XM_011510784.3:c.2537C>T, XM_011510784.2:c.2537C>T, XM_011510784.1:c.2537C>T, XM_011510789.3:c.2231C>T, XM_011510789.2:c.2231C>T, XM_011510789.1:c.2231C>T, XM_017003568.2:c.2654C>T, XM_017003568.1:c.2654C>T, XM_017003569.2:c.2486C>T, XM_017003569.1:c.2486C>T, XM_011510787.2:c.2414C>T, XM_011510787.1:c.2414C>T, XM_011510788.2:c.2381C>T, XM_011510788.1:c.2381C>T, XM_017003570.2:c.2213C>T, XM_017003570.1:c.2213C>T, XM_017003571.2:c.2063C>T, XM_017003571.1:c.2063C>T, XM_017003574.2:c.1715C>T, XM_017003574.1:c.1715C>T, XM_047443667.1:c.2672C>T, XM_047443672.1:c.2504C>T, XM_047443670.1:c.2672C>T, XM_047443671.1:c.2504C>T, XM_047443673.1:c.2654C>T, XM_047443674.1:c.2381C>T, XM_047443676.1:c.2363C>T, XM_047443677.1:c.2504C>T, XM_047443679.1:c.2486C>T, XM_047443680.1:c.2249C>T, XM_047443681.1:c.2381C>T, XM_047443682.1:c.2213C>T, XM_047443686.1:c.2363C>T, XM_047443687.1:c.2195C>T, XM_047443689.1:c.2231C>T, XM_047443690.1:c.2213C>T, XM_047443695.1:c.2045C>T, XM_047443696.1:c.2195C>T, XM_047443698.1:c.1715C>T, XR_007070607.1:n.2878C>T, NM_001002881.1:c.1715C>T, NP_055855.2:p.Ser891Phe, XP_011509080.1:p.Ser903Phe, XP_011509083.1:p.Ser897Phe, XP_011509084.1:p.Ser903Phe, XP_011509085.1:p.Ser847Phe, XP_011509087.1:p.Ser841Phe, XP_011509088.1:p.Ser806Phe, XP_011509094.1:p.Ser903Phe, XP_011509081.1:p.Ser903Phe, XP_011509082.1:p.Ser902Phe, XP_011509086.1:p.Ser846Phe, XP_011509091.1:p.Ser744Phe, XP_016859057.1:p.Ser885Phe, XP_016859058.1:p.Ser829Phe, XP_011509089.1:p.Ser805Phe, XP_011509090.1:p.Ser794Phe, XP_016859059.1:p.Ser738Phe, XP_016859060.1:p.Ser688Phe, XP_016859063.1:p.Ser572Phe, XP_047299623.1:p.Ser891Phe, XP_047299628.1:p.Ser835Phe, XP_047299626.1:p.Ser891Phe, XP_047299627.1:p.Ser835Phe, XP_047299629.1:p.Ser885Phe, XP_047299630.1:p.Ser794Phe, XP_047299632.1:p.Ser788Phe, XP_047299633.1:p.Ser835Phe, XP_047299635.1:p.Ser829Phe, XP_047299636.1:p.Ser750Phe, XP_047299637.1:p.Ser794Phe, XP_047299638.1:p.Ser738Phe, XP_047299642.1:p.Ser788Phe, XP_047299643.1:p.Ser732Phe, XP_047299645.1:p.Ser744Phe, XP_047299646.1:p.Ser738Phe, XP_047299651.1:p.Ser682Phe, XP_047299652.1:p.Ser732Phe, XP_047299654.1:p.Ser572Phe

                        12.

                        rs1486717444 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          2:208325286 (GRCh38)
                          2:209190010 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:208325285:G:A
                          Gene:
                          PIKFYVE (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.208325286G>A, NC_000002.11:g.209190010G>A, NG_021188.1:g.64020G>A, NM_015040.4:c.2475G>A, NM_015040.3:c.2475G>A, XM_011510778.4:c.2511G>A, XM_011510778.3:c.2511G>A, XM_011510778.2:c.2511G>A, XM_011510778.1:c.2511G>A, XM_011510781.4:c.2493G>A, XM_011510781.3:c.2493G>A, XM_011510781.2:c.2493G>A, XM_011510781.1:c.2493G>A, XM_011510782.4:c.2511G>A, XM_011510782.3:c.2511G>A, XM_011510782.2:c.2511G>A, XM_011510782.1:c.2511G>A, XM_011510783.4:c.2343G>A, XM_011510783.3:c.2343G>A, XM_011510783.2:c.2343G>A, XM_011510783.1:c.2343G>A, XM_011510785.4:c.2325G>A, XM_011510785.3:c.2325G>A, XM_011510785.2:c.2325G>A, XM_011510785.1:c.2325G>A, XM_011510786.4:c.2220G>A, XM_011510786.3:c.2220G>A, XM_011510786.2:c.2220G>A, XM_011510786.1:c.2220G>A, XM_011510792.4:c.2511G>A, XM_011510792.3:c.2511G>A, XM_011510792.2:c.2511G>A, XM_011510792.1:c.2511G>A, XM_011510779.3:c.2511G>A, XM_011510779.2:c.2511G>A, XM_011510779.1:c.2511G>A, XM_011510780.3:c.2508G>A, XM_011510780.2:c.2508G>A, XM_011510780.1:c.2508G>A, XM_011510784.3:c.2340G>A, XM_011510784.2:c.2340G>A, XM_011510784.1:c.2340G>A, XM_011510789.3:c.2034G>A, XM_011510789.2:c.2034G>A, XM_011510789.1:c.2034G>A, XM_017003568.2:c.2457G>A, XM_017003568.1:c.2457G>A, XM_017003569.2:c.2289G>A, XM_017003569.1:c.2289G>A, XM_011510787.2:c.2217G>A, XM_011510787.1:c.2217G>A, XM_011510788.2:c.2184G>A, XM_011510788.1:c.2184G>A, XM_017003570.2:c.2016G>A, XM_017003570.1:c.2016G>A, XM_017003571.2:c.1866G>A, XM_017003571.1:c.1866G>A, XM_017003574.2:c.1518G>A, XM_017003574.1:c.1518G>A, XM_047443667.1:c.2475G>A, XM_047443672.1:c.2307G>A, XM_047443670.1:c.2475G>A, XM_047443671.1:c.2307G>A, XM_047443673.1:c.2457G>A, XM_047443674.1:c.2184G>A, XM_047443676.1:c.2166G>A, XM_047443677.1:c.2307G>A, XM_047443679.1:c.2289G>A, XM_047443680.1:c.2052G>A, XM_047443681.1:c.2184G>A, XM_047443682.1:c.2016G>A, XM_047443686.1:c.2166G>A, XM_047443687.1:c.1998G>A, XM_047443689.1:c.2034G>A, XM_047443690.1:c.2016G>A, XM_047443695.1:c.1848G>A, XM_047443696.1:c.1998G>A, XM_047443698.1:c.1518G>A, XR_007070607.1:n.2681G>A, NM_001002881.1:c.1518G>A

                          13.

                          rs1486099549 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:208312256 (GRCh38)
                            2:209176980 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:208312255:G:A
                            Gene:
                            PIKFYVE (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000002.12:g.208312256G>A, NC_000002.11:g.209176980G>A, NG_021188.1:g.50990G>A, NM_015040.4:c.1657G>A, NM_015040.3:c.1657G>A, XM_011510778.4:c.1693G>A, XM_011510778.3:c.1693G>A, XM_011510778.2:c.1693G>A, XM_011510778.1:c.1693G>A, XM_011510781.4:c.1675G>A, XM_011510781.3:c.1675G>A, XM_011510781.2:c.1675G>A, XM_011510781.1:c.1675G>A, XM_011510782.4:c.1693G>A, XM_011510782.3:c.1693G>A, XM_011510782.2:c.1693G>A, XM_011510782.1:c.1693G>A, XM_011510783.4:c.1525G>A, XM_011510783.3:c.1525G>A, XM_011510783.2:c.1525G>A, XM_011510783.1:c.1525G>A, XM_011510785.4:c.1507G>A, XM_011510785.3:c.1507G>A, XM_011510785.2:c.1507G>A, XM_011510785.1:c.1507G>A, XM_011510786.4:c.1402G>A, XM_011510786.3:c.1402G>A, XM_011510786.2:c.1402G>A, XM_011510786.1:c.1402G>A, XM_011510792.4:c.1693G>A, XM_011510792.3:c.1693G>A, XM_011510792.2:c.1693G>A, XM_011510792.1:c.1693G>A, XM_011510779.3:c.1693G>A, XM_011510779.2:c.1693G>A, XM_011510779.1:c.1693G>A, XM_011510780.3:c.1690G>A, XM_011510780.2:c.1690G>A, XM_011510780.1:c.1690G>A, XM_011510784.3:c.1522G>A, XM_011510784.2:c.1522G>A, XM_011510784.1:c.1522G>A, XM_011510789.3:c.1216G>A, XM_011510789.2:c.1216G>A, XM_011510789.1:c.1216G>A, XM_017003568.2:c.1639G>A, XM_017003568.1:c.1639G>A, XM_017003569.2:c.1471G>A, XM_017003569.1:c.1471G>A, XM_011510787.2:c.1399G>A, XM_011510787.1:c.1399G>A, XM_011510788.2:c.1366G>A, XM_011510788.1:c.1366G>A, XM_017003570.2:c.1198G>A, XM_017003570.1:c.1198G>A, XM_017003571.2:c.1048G>A, XM_017003571.1:c.1048G>A, XM_017003574.2:c.700G>A, XM_017003574.1:c.700G>A, XM_047443667.1:c.1657G>A, XM_047443672.1:c.1489G>A, XM_047443670.1:c.1657G>A, XM_047443671.1:c.1489G>A, XM_047443673.1:c.1639G>A, XM_047443674.1:c.1366G>A, XM_047443676.1:c.1348G>A, XM_047443677.1:c.1489G>A, XM_047443679.1:c.1471G>A, XM_047443680.1:c.1234G>A, XM_047443681.1:c.1366G>A, XM_047443682.1:c.1198G>A, XM_047443686.1:c.1348G>A, XM_047443687.1:c.1180G>A, XM_047443689.1:c.1216G>A, XM_047443690.1:c.1198G>A, XM_047443695.1:c.1030G>A, XM_047443696.1:c.1180G>A, XM_047443698.1:c.700G>A, XR_007070607.1:n.1863G>A, NM_001002881.1:c.700G>A, NP_055855.2:p.Gly553Arg, XP_011509080.1:p.Gly565Arg, XP_011509083.1:p.Gly559Arg, XP_011509084.1:p.Gly565Arg, XP_011509085.1:p.Gly509Arg, XP_011509087.1:p.Gly503Arg, XP_011509088.1:p.Gly468Arg, XP_011509094.1:p.Gly565Arg, XP_011509081.1:p.Gly565Arg, XP_011509082.1:p.Gly564Arg, XP_011509086.1:p.Gly508Arg, XP_011509091.1:p.Gly406Arg, XP_016859057.1:p.Gly547Arg, XP_016859058.1:p.Gly491Arg, XP_011509089.1:p.Gly467Arg, XP_011509090.1:p.Gly456Arg, XP_016859059.1:p.Gly400Arg, XP_016859060.1:p.Gly350Arg, XP_016859063.1:p.Gly234Arg, XP_047299623.1:p.Gly553Arg, XP_047299628.1:p.Gly497Arg, XP_047299626.1:p.Gly553Arg, XP_047299627.1:p.Gly497Arg, XP_047299629.1:p.Gly547Arg, XP_047299630.1:p.Gly456Arg, XP_047299632.1:p.Gly450Arg, XP_047299633.1:p.Gly497Arg, XP_047299635.1:p.Gly491Arg, XP_047299636.1:p.Gly412Arg, XP_047299637.1:p.Gly456Arg, XP_047299638.1:p.Gly400Arg, XP_047299642.1:p.Gly450Arg, XP_047299643.1:p.Gly394Arg, XP_047299645.1:p.Gly406Arg, XP_047299646.1:p.Gly400Arg, XP_047299651.1:p.Gly344Arg, XP_047299652.1:p.Gly394Arg, XP_047299654.1:p.Gly234Arg

                            14.

                            rs1485448831 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:208326331 (GRCh38)
                              2:209191055 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:208326330:A:G
                              Gene:
                              PIKFYVE (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.208326331A>G, NC_000002.11:g.209191055A>G, NG_021188.1:g.65065A>G, NM_015040.4:c.3520A>G, NM_015040.3:c.3520A>G, XM_011510778.4:c.3556A>G, XM_011510778.3:c.3556A>G, XM_011510778.2:c.3556A>G, XM_011510778.1:c.3556A>G, XM_011510781.4:c.3538A>G, XM_011510781.3:c.3538A>G, XM_011510781.2:c.3538A>G, XM_011510781.1:c.3538A>G, XM_011510782.4:c.3556A>G, XM_011510782.3:c.3556A>G, XM_011510782.2:c.3556A>G, XM_011510782.1:c.3556A>G, XM_011510783.4:c.3388A>G, XM_011510783.3:c.3388A>G, XM_011510783.2:c.3388A>G, XM_011510783.1:c.3388A>G, XM_011510785.4:c.3370A>G, XM_011510785.3:c.3370A>G, XM_011510785.2:c.3370A>G, XM_011510785.1:c.3370A>G, XM_011510786.4:c.3265A>G, XM_011510786.3:c.3265A>G, XM_011510786.2:c.3265A>G, XM_011510786.1:c.3265A>G, XM_011510792.4:c.3556A>G, XM_011510792.3:c.3556A>G, XM_011510792.2:c.3556A>G, XM_011510792.1:c.3556A>G, XM_011510779.3:c.3556A>G, XM_011510779.2:c.3556A>G, XM_011510779.1:c.3556A>G, XM_011510780.3:c.3553A>G, XM_011510780.2:c.3553A>G, XM_011510780.1:c.3553A>G, XM_011510784.3:c.3385A>G, XM_011510784.2:c.3385A>G, XM_011510784.1:c.3385A>G, XM_011510789.3:c.3079A>G, XM_011510789.2:c.3079A>G, XM_011510789.1:c.3079A>G, XM_017003568.2:c.3502A>G, XM_017003568.1:c.3502A>G, XM_017003569.2:c.3334A>G, XM_017003569.1:c.3334A>G, XM_011510787.2:c.3262A>G, XM_011510787.1:c.3262A>G, XM_011510788.2:c.3229A>G, XM_011510788.1:c.3229A>G, XM_017003570.2:c.3061A>G, XM_017003570.1:c.3061A>G, XM_017003571.2:c.2911A>G, XM_017003571.1:c.2911A>G, XM_017003574.2:c.2563A>G, XM_017003574.1:c.2563A>G, XM_047443667.1:c.3520A>G, XM_047443672.1:c.3352A>G, XM_047443670.1:c.3520A>G, XM_047443671.1:c.3352A>G, XM_047443673.1:c.3502A>G, XM_047443674.1:c.3229A>G, XM_047443676.1:c.3211A>G, XM_047443677.1:c.3352A>G, XM_047443679.1:c.3334A>G, XM_047443680.1:c.3097A>G, XM_047443681.1:c.3229A>G, XM_047443682.1:c.3061A>G, XM_047443686.1:c.3211A>G, XM_047443687.1:c.3043A>G, XM_047443689.1:c.3079A>G, XM_047443690.1:c.3061A>G, XM_047443695.1:c.2893A>G, XM_047443696.1:c.3043A>G, XM_047443698.1:c.2563A>G, XR_007070607.1:n.3726A>G, NM_001002881.1:c.2563A>G, NP_055855.2:p.Lys1174Glu, XP_011509080.1:p.Lys1186Glu, XP_011509083.1:p.Lys1180Glu, XP_011509084.1:p.Lys1186Glu, XP_011509085.1:p.Lys1130Glu, XP_011509087.1:p.Lys1124Glu, XP_011509088.1:p.Lys1089Glu, XP_011509094.1:p.Lys1186Glu, XP_011509081.1:p.Lys1186Glu, XP_011509082.1:p.Lys1185Glu, XP_011509086.1:p.Lys1129Glu, XP_011509091.1:p.Lys1027Glu, XP_016859057.1:p.Lys1168Glu, XP_016859058.1:p.Lys1112Glu, XP_011509089.1:p.Lys1088Glu, XP_011509090.1:p.Lys1077Glu, XP_016859059.1:p.Lys1021Glu, XP_016859060.1:p.Lys971Glu, XP_016859063.1:p.Lys855Glu, XP_047299623.1:p.Lys1174Glu, XP_047299628.1:p.Lys1118Glu, XP_047299626.1:p.Lys1174Glu, XP_047299627.1:p.Lys1118Glu, XP_047299629.1:p.Lys1168Glu, XP_047299630.1:p.Lys1077Glu, XP_047299632.1:p.Lys1071Glu, XP_047299633.1:p.Lys1118Glu, XP_047299635.1:p.Lys1112Glu, XP_047299636.1:p.Lys1033Glu, XP_047299637.1:p.Lys1077Glu, XP_047299638.1:p.Lys1021Glu, XP_047299642.1:p.Lys1071Glu, XP_047299643.1:p.Lys1015Glu, XP_047299645.1:p.Lys1027Glu, XP_047299646.1:p.Lys1021Glu, XP_047299651.1:p.Lys965Glu, XP_047299652.1:p.Lys1015Glu, XP_047299654.1:p.Lys855Glu

                              15.

                              rs1484431307 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:208285915 (GRCh38)
                                2:209150639 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:208285914:A:G
                                Gene:
                                PIKFYVE (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_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_000002.12:g.208285915A>G, NC_000002.11:g.209150639A>G, NG_021188.1:g.24649A>G, NM_015040.4:c.803A>G, NM_015040.3:c.803A>G, NM_152671.4:c.512A>G, NM_152671.3:c.512A>G, NM_001178000.2:c.803A>G, NM_001178000.1:c.803A>G, XM_011510778.4:c.839A>G, XM_011510778.3:c.839A>G, XM_011510778.2:c.839A>G, XM_011510778.1:c.839A>G, XM_011510781.4:c.839A>G, XM_011510781.3:c.839A>G, XM_011510781.2:c.839A>G, XM_011510781.1:c.839A>G, XM_011510782.4:c.839A>G, XM_011510782.3:c.839A>G, XM_011510782.2:c.839A>G, XM_011510782.1:c.839A>G, XM_011510783.4:c.839A>G, XM_011510783.3:c.839A>G, XM_011510783.2:c.839A>G, XM_011510783.1:c.839A>G, XM_011510785.4:c.839A>G, XM_011510785.3:c.839A>G, XM_011510785.2:c.839A>G, XM_011510785.1:c.839A>G, XM_011510786.4:c.548A>G, XM_011510786.3:c.548A>G, XM_011510786.2:c.548A>G, XM_011510786.1:c.548A>G, XM_011510792.4:c.839A>G, XM_011510792.3:c.839A>G, XM_011510792.2:c.839A>G, XM_011510792.1:c.839A>G, XM_011510779.3:c.839A>G, XM_011510779.2:c.839A>G, XM_011510779.1:c.839A>G, XM_011510780.3:c.836A>G, XM_011510780.2:c.836A>G, XM_011510780.1:c.836A>G, XM_011510784.3:c.836A>G, XM_011510784.2:c.836A>G, XM_011510784.1:c.836A>G, XM_011510789.3:c.362A>G, XM_011510789.2:c.362A>G, XM_011510789.1:c.362A>G, XM_017003568.2:c.803A>G, XM_017003568.1:c.803A>G, XM_017003569.2:c.803A>G, XM_017003569.1:c.803A>G, XM_011510787.2:c.545A>G, XM_011510787.1:c.545A>G, XM_011510788.2:c.512A>G, XM_011510788.1:c.512A>G, XM_017003570.2:c.512A>G, XM_017003570.1:c.512A>G, XM_017003571.2:c.362A>G, XM_017003571.1:c.362A>G, XM_047443667.1:c.803A>G, XM_047443672.1:c.803A>G, XM_047443670.1:c.803A>G, XM_047443671.1:c.803A>G, XM_047443673.1:c.803A>G, XM_047443674.1:c.512A>G, XM_047443676.1:c.512A>G, XM_047443677.1:c.803A>G, XM_047443679.1:c.803A>G, XM_047443680.1:c.548A>G, XM_047443681.1:c.512A>G, XM_047443682.1:c.362A>G, XM_047443686.1:c.512A>G, XM_047443687.1:c.512A>G, XM_047443689.1:c.362A>G, XM_047443690.1:c.512A>G, XM_047443695.1:c.362A>G, XM_047443696.1:c.512A>G, XM_047443698.1:c.-155A>G, XR_007070607.1:n.1009A>G, NM_001002881.1:c.-155A>G, NP_055855.2:p.Asp268Gly, NP_689884.1:p.Asp171Gly, NP_001171471.1:p.Asp268Gly, XP_011509080.1:p.Asp280Gly, XP_011509083.1:p.Asp280Gly, XP_011509084.1:p.Asp280Gly, XP_011509085.1:p.Asp280Gly, XP_011509087.1:p.Asp280Gly, XP_011509088.1:p.Asp183Gly, XP_011509094.1:p.Asp280Gly, XP_011509081.1:p.Asp280Gly, XP_011509082.1:p.Asp279Gly, XP_011509086.1:p.Asp279Gly, XP_011509091.1:p.Asp121Gly, XP_016859057.1:p.Asp268Gly, XP_016859058.1:p.Asp268Gly, XP_011509089.1:p.Asp182Gly, XP_011509090.1:p.Asp171Gly, XP_016859059.1:p.Asp171Gly, XP_016859060.1:p.Asp121Gly, XP_047299623.1:p.Asp268Gly, XP_047299628.1:p.Asp268Gly, XP_047299626.1:p.Asp268Gly, XP_047299627.1:p.Asp268Gly, XP_047299629.1:p.Asp268Gly, XP_047299630.1:p.Asp171Gly, XP_047299632.1:p.Asp171Gly, XP_047299633.1:p.Asp268Gly, XP_047299635.1:p.Asp268Gly, XP_047299636.1:p.Asp183Gly, XP_047299637.1:p.Asp171Gly, XP_047299638.1:p.Asp121Gly, XP_047299642.1:p.Asp171Gly, XP_047299643.1:p.Asp171Gly, XP_047299645.1:p.Asp121Gly, XP_047299646.1:p.Asp171Gly, XP_047299651.1:p.Asp121Gly, XP_047299652.1:p.Asp171Gly

                                16.

                                rs1484147461 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G [Show Flanks]
                                  Chromosome:
                                  2:208325328 (GRCh38)
                                  2:209190052 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:208325327:C:A,NC_000002.12:208325327:C:G
                                  Gene:
                                  PIKFYVE (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.208325328C>A, NC_000002.12:g.208325328C>G, NC_000002.11:g.209190052C>A, NC_000002.11:g.209190052C>G, NG_021188.1:g.64062C>A, NG_021188.1:g.64062C>G, NM_015040.4:c.2517C>A, NM_015040.4:c.2517C>G, NM_015040.3:c.2517C>A, NM_015040.3:c.2517C>G, XM_011510778.4:c.2553C>A, XM_011510778.4:c.2553C>G, XM_011510778.3:c.2553C>A, XM_011510778.3:c.2553C>G, XM_011510778.2:c.2553C>A, XM_011510778.2:c.2553C>G, XM_011510778.1:c.2553C>A, XM_011510778.1:c.2553C>G, XM_011510781.4:c.2535C>A, XM_011510781.4:c.2535C>G, XM_011510781.3:c.2535C>A, XM_011510781.3:c.2535C>G, XM_011510781.2:c.2535C>A, XM_011510781.2:c.2535C>G, XM_011510781.1:c.2535C>A, XM_011510781.1:c.2535C>G, XM_011510782.4:c.2553C>A, XM_011510782.4:c.2553C>G, XM_011510782.3:c.2553C>A, XM_011510782.3:c.2553C>G, XM_011510782.2:c.2553C>A, XM_011510782.2:c.2553C>G, XM_011510782.1:c.2553C>A, XM_011510782.1:c.2553C>G, XM_011510783.4:c.2385C>A, XM_011510783.4:c.2385C>G, XM_011510783.3:c.2385C>A, XM_011510783.3:c.2385C>G, XM_011510783.2:c.2385C>A, XM_011510783.2:c.2385C>G, XM_011510783.1:c.2385C>A, XM_011510783.1:c.2385C>G, XM_011510785.4:c.2367C>A, XM_011510785.4:c.2367C>G, XM_011510785.3:c.2367C>A, XM_011510785.3:c.2367C>G, XM_011510785.2:c.2367C>A, XM_011510785.2:c.2367C>G, XM_011510785.1:c.2367C>A, XM_011510785.1:c.2367C>G, XM_011510786.4:c.2262C>A, XM_011510786.4:c.2262C>G, XM_011510786.3:c.2262C>A, XM_011510786.3:c.2262C>G, XM_011510786.2:c.2262C>A, XM_011510786.2:c.2262C>G, XM_011510786.1:c.2262C>A, XM_011510786.1:c.2262C>G, XM_011510792.4:c.2553C>A, XM_011510792.4:c.2553C>G, XM_011510792.3:c.2553C>A, XM_011510792.3:c.2553C>G, XM_011510792.2:c.2553C>A, XM_011510792.2:c.2553C>G, XM_011510792.1:c.2553C>A, XM_011510792.1:c.2553C>G, XM_011510779.3:c.2553C>A, XM_011510779.3:c.2553C>G, XM_011510779.2:c.2553C>A, XM_011510779.2:c.2553C>G, XM_011510779.1:c.2553C>A, XM_011510779.1:c.2553C>G, XM_011510780.3:c.2550C>A, XM_011510780.3:c.2550C>G, XM_011510780.2:c.2550C>A, XM_011510780.2:c.2550C>G, XM_011510780.1:c.2550C>A, XM_011510780.1:c.2550C>G, XM_011510784.3:c.2382C>A, XM_011510784.3:c.2382C>G, XM_011510784.2:c.2382C>A, XM_011510784.2:c.2382C>G, XM_011510784.1:c.2382C>A, XM_011510784.1:c.2382C>G, XM_011510789.3:c.2076C>A, XM_011510789.3:c.2076C>G, XM_011510789.2:c.2076C>A, XM_011510789.2:c.2076C>G, XM_011510789.1:c.2076C>A, XM_011510789.1:c.2076C>G, XM_017003568.2:c.2499C>A, XM_017003568.2:c.2499C>G, XM_017003568.1:c.2499C>A, XM_017003568.1:c.2499C>G, XM_017003569.2:c.2331C>A, XM_017003569.2:c.2331C>G, XM_017003569.1:c.2331C>A, XM_017003569.1:c.2331C>G, XM_011510787.2:c.2259C>A, XM_011510787.2:c.2259C>G, XM_011510787.1:c.2259C>A, XM_011510787.1:c.2259C>G, XM_011510788.2:c.2226C>A, XM_011510788.2:c.2226C>G, XM_011510788.1:c.2226C>A, XM_011510788.1:c.2226C>G, XM_017003570.2:c.2058C>A, XM_017003570.2:c.2058C>G, XM_017003570.1:c.2058C>A, XM_017003570.1:c.2058C>G, XM_017003571.2:c.1908C>A, XM_017003571.2:c.1908C>G, XM_017003571.1:c.1908C>A, XM_017003571.1:c.1908C>G, XM_017003574.2:c.1560C>A, XM_017003574.2:c.1560C>G, XM_017003574.1:c.1560C>A, XM_017003574.1:c.1560C>G, XM_047443667.1:c.2517C>A, XM_047443667.1:c.2517C>G, XM_047443672.1:c.2349C>A, XM_047443672.1:c.2349C>G, XM_047443670.1:c.2517C>A, XM_047443670.1:c.2517C>G, XM_047443671.1:c.2349C>A, XM_047443671.1:c.2349C>G, XM_047443673.1:c.2499C>A, XM_047443673.1:c.2499C>G, XM_047443674.1:c.2226C>A, XM_047443674.1:c.2226C>G, XM_047443676.1:c.2208C>A, XM_047443676.1:c.2208C>G, XM_047443677.1:c.2349C>A, XM_047443677.1:c.2349C>G, XM_047443679.1:c.2331C>A, XM_047443679.1:c.2331C>G, XM_047443680.1:c.2094C>A, XM_047443680.1:c.2094C>G, XM_047443681.1:c.2226C>A, XM_047443681.1:c.2226C>G, XM_047443682.1:c.2058C>A, XM_047443682.1:c.2058C>G, XM_047443686.1:c.2208C>A, XM_047443686.1:c.2208C>G, XM_047443687.1:c.2040C>A, XM_047443687.1:c.2040C>G, XM_047443689.1:c.2076C>A, XM_047443689.1:c.2076C>G, XM_047443690.1:c.2058C>A, XM_047443690.1:c.2058C>G, XM_047443695.1:c.1890C>A, XM_047443695.1:c.1890C>G, XM_047443696.1:c.2040C>A, XM_047443696.1:c.2040C>G, XM_047443698.1:c.1560C>A, XM_047443698.1:c.1560C>G, XR_007070607.1:n.2723C>A, XR_007070607.1:n.2723C>G, NM_001002881.1:c.1560C>A, NM_001002881.1:c.1560C>G, NP_055855.2:p.Ile839Met, XP_011509080.1:p.Ile851Met, XP_011509083.1:p.Ile845Met, XP_011509084.1:p.Ile851Met, XP_011509085.1:p.Ile795Met, XP_011509087.1:p.Ile789Met, XP_011509088.1:p.Ile754Met, XP_011509094.1:p.Ile851Met, XP_011509081.1:p.Ile851Met, XP_011509082.1:p.Ile850Met, XP_011509086.1:p.Ile794Met, XP_011509091.1:p.Ile692Met, XP_016859057.1:p.Ile833Met, XP_016859058.1:p.Ile777Met, XP_011509089.1:p.Ile753Met, XP_011509090.1:p.Ile742Met, XP_016859059.1:p.Ile686Met, XP_016859060.1:p.Ile636Met, XP_016859063.1:p.Ile520Met, XP_047299623.1:p.Ile839Met, XP_047299628.1:p.Ile783Met, XP_047299626.1:p.Ile839Met, XP_047299627.1:p.Ile783Met, XP_047299629.1:p.Ile833Met, XP_047299630.1:p.Ile742Met, XP_047299632.1:p.Ile736Met, XP_047299633.1:p.Ile783Met, XP_047299635.1:p.Ile777Met, XP_047299636.1:p.Ile698Met, XP_047299637.1:p.Ile742Met, XP_047299638.1:p.Ile686Met, XP_047299642.1:p.Ile736Met, XP_047299643.1:p.Ile680Met, XP_047299645.1:p.Ile692Met, XP_047299646.1:p.Ile686Met, XP_047299651.1:p.Ile630Met, XP_047299652.1:p.Ile680Met, XP_047299654.1:p.Ile520Met

                                  17.

                                  rs1483525703 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    2:208346123 (GRCh38)
                                    2:209210847 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:208346122:A:G
                                    Gene:
                                    PIKFYVE (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.208346123A>G, NC_000002.11:g.209210847A>G, NG_021188.1:g.84857A>G, NM_015040.4:c.5185A>G, NM_015040.3:c.5185A>G, XM_011510778.4:c.5221A>G, XM_011510778.3:c.5221A>G, XM_011510778.2:c.5221A>G, XM_011510778.1:c.5221A>G, XM_011510781.4:c.5203A>G, XM_011510781.3:c.5203A>G, XM_011510781.2:c.5203A>G, XM_011510781.1:c.5203A>G, XM_011510782.4:c.5221A>G, XM_011510782.3:c.5221A>G, XM_011510782.2:c.5221A>G, XM_011510782.1:c.5221A>G, XM_011510783.4:c.5053A>G, XM_011510783.3:c.5053A>G, XM_011510783.2:c.5053A>G, XM_011510783.1:c.5053A>G, XM_011510785.4:c.5035A>G, XM_011510785.3:c.5035A>G, XM_011510785.2:c.5035A>G, XM_011510785.1:c.5035A>G, XM_011510786.4:c.4930A>G, XM_011510786.3:c.4930A>G, XM_011510786.2:c.4930A>G, XM_011510786.1:c.4930A>G, XM_011510779.3:c.5221A>G, XM_011510779.2:c.5221A>G, XM_011510779.1:c.5221A>G, XM_011510780.3:c.5218A>G, XM_011510780.2:c.5218A>G, XM_011510780.1:c.5218A>G, XM_011510784.3:c.5050A>G, XM_011510784.2:c.5050A>G, XM_011510784.1:c.5050A>G, XM_011510789.3:c.4744A>G, XM_011510789.2:c.4744A>G, XM_011510789.1:c.4744A>G, XM_017003568.2:c.5167A>G, XM_017003568.1:c.5167A>G, XM_017003569.2:c.4999A>G, XM_017003569.1:c.4999A>G, XM_011510787.2:c.4927A>G, XM_011510787.1:c.4927A>G, XM_011510788.2:c.4894A>G, XM_011510788.1:c.4894A>G, XM_017003570.2:c.4726A>G, XM_017003570.1:c.4726A>G, XM_017003571.2:c.4576A>G, XM_017003571.1:c.4576A>G, XM_017003574.2:c.4228A>G, XM_017003574.1:c.4228A>G, XM_047443667.1:c.5185A>G, XM_047443672.1:c.5017A>G, XM_047443670.1:c.5185A>G, XM_047443671.1:c.5017A>G, XM_047443673.1:c.5167A>G, XM_047443674.1:c.4894A>G, XM_047443676.1:c.4876A>G, XM_047443677.1:c.5017A>G, XM_047443679.1:c.4999A>G, XM_047443680.1:c.4762A>G, XM_047443681.1:c.4894A>G, XM_047443682.1:c.4726A>G, XM_047443686.1:c.4876A>G, XM_047443687.1:c.4708A>G, XM_047443689.1:c.4744A>G, XM_047443690.1:c.4726A>G, XM_047443695.1:c.4558A>G, XM_047443696.1:c.4708A>G, XM_047443698.1:c.4228A>G, XR_007070607.1:n.5391A>G, NM_001002881.1:c.4228A>G, NP_055855.2:p.Thr1729Ala, XP_011509080.1:p.Thr1741Ala, XP_011509083.1:p.Thr1735Ala, XP_011509084.1:p.Thr1741Ala, XP_011509085.1:p.Thr1685Ala, XP_011509087.1:p.Thr1679Ala, XP_011509088.1:p.Thr1644Ala, XP_011509081.1:p.Thr1741Ala, XP_011509082.1:p.Thr1740Ala, XP_011509086.1:p.Thr1684Ala, XP_011509091.1:p.Thr1582Ala, XP_016859057.1:p.Thr1723Ala, XP_016859058.1:p.Thr1667Ala, XP_011509089.1:p.Thr1643Ala, XP_011509090.1:p.Thr1632Ala, XP_016859059.1:p.Thr1576Ala, XP_016859060.1:p.Thr1526Ala, XP_016859063.1:p.Thr1410Ala, XP_047299623.1:p.Thr1729Ala, XP_047299628.1:p.Thr1673Ala, XP_047299626.1:p.Thr1729Ala, XP_047299627.1:p.Thr1673Ala, XP_047299629.1:p.Thr1723Ala, XP_047299630.1:p.Thr1632Ala, XP_047299632.1:p.Thr1626Ala, XP_047299633.1:p.Thr1673Ala, XP_047299635.1:p.Thr1667Ala, XP_047299636.1:p.Thr1588Ala, XP_047299637.1:p.Thr1632Ala, XP_047299638.1:p.Thr1576Ala, XP_047299642.1:p.Thr1626Ala, XP_047299643.1:p.Thr1570Ala, XP_047299645.1:p.Thr1582Ala, XP_047299646.1:p.Thr1576Ala, XP_047299651.1:p.Thr1520Ala, XP_047299652.1:p.Thr1570Ala, XP_047299654.1:p.Thr1410Ala

                                    18.

                                    rs1483489131 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      2:208324270 (GRCh38)
                                      2:209188994 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:208324269:T:A
                                      Gene:
                                      PIKFYVE (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000224/1 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000223/1 (Estonian)
                                      HGVS:
                                      NC_000002.12:g.208324270T>A, NC_000002.11:g.209188994T>A, NG_021188.1:g.63004T>A, NM_015040.4:c.2319T>A, NM_015040.3:c.2319T>A, XM_011510778.4:c.2355T>A, XM_011510778.3:c.2355T>A, XM_011510778.2:c.2355T>A, XM_011510778.1:c.2355T>A, XM_011510781.4:c.2337T>A, XM_011510781.3:c.2337T>A, XM_011510781.2:c.2337T>A, XM_011510781.1:c.2337T>A, XM_011510782.4:c.2355T>A, XM_011510782.3:c.2355T>A, XM_011510782.2:c.2355T>A, XM_011510782.1:c.2355T>A, XM_011510783.4:c.2187T>A, XM_011510783.3:c.2187T>A, XM_011510783.2:c.2187T>A, XM_011510783.1:c.2187T>A, XM_011510785.4:c.2169T>A, XM_011510785.3:c.2169T>A, XM_011510785.2:c.2169T>A, XM_011510785.1:c.2169T>A, XM_011510786.4:c.2064T>A, XM_011510786.3:c.2064T>A, XM_011510786.2:c.2064T>A, XM_011510786.1:c.2064T>A, XM_011510792.4:c.2355T>A, XM_011510792.3:c.2355T>A, XM_011510792.2:c.2355T>A, XM_011510792.1:c.2355T>A, XM_011510779.3:c.2355T>A, XM_011510779.2:c.2355T>A, XM_011510779.1:c.2355T>A, XM_011510780.3:c.2352T>A, XM_011510780.2:c.2352T>A, XM_011510780.1:c.2352T>A, XM_011510784.3:c.2184T>A, XM_011510784.2:c.2184T>A, XM_011510784.1:c.2184T>A, XM_011510789.3:c.1878T>A, XM_011510789.2:c.1878T>A, XM_011510789.1:c.1878T>A, XM_017003568.2:c.2301T>A, XM_017003568.1:c.2301T>A, XM_017003569.2:c.2133T>A, XM_017003569.1:c.2133T>A, XM_011510787.2:c.2061T>A, XM_011510787.1:c.2061T>A, XM_011510788.2:c.2028T>A, XM_011510788.1:c.2028T>A, XM_017003570.2:c.1860T>A, XM_017003570.1:c.1860T>A, XM_017003571.2:c.1710T>A, XM_017003571.1:c.1710T>A, XM_017003574.2:c.1362T>A, XM_017003574.1:c.1362T>A, XM_047443667.1:c.2319T>A, XM_047443672.1:c.2151T>A, XM_047443670.1:c.2319T>A, XM_047443671.1:c.2151T>A, XM_047443673.1:c.2301T>A, XM_047443674.1:c.2028T>A, XM_047443676.1:c.2010T>A, XM_047443677.1:c.2151T>A, XM_047443679.1:c.2133T>A, XM_047443680.1:c.1896T>A, XM_047443681.1:c.2028T>A, XM_047443682.1:c.1860T>A, XM_047443686.1:c.2010T>A, XM_047443687.1:c.1842T>A, XM_047443689.1:c.1878T>A, XM_047443690.1:c.1860T>A, XM_047443695.1:c.1692T>A, XM_047443696.1:c.1842T>A, XM_047443698.1:c.1362T>A, XR_007070607.1:n.2525T>A, NM_001002881.1:c.1362T>A

                                      19.

                                      rs1483452600 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        2:208326249 (GRCh38)
                                        2:209190973 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:208326248:G:T
                                        Gene:
                                        PIKFYVE (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000013/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.208326249G>T, NC_000002.11:g.209190973G>T, NG_021188.1:g.64983G>T, NM_015040.4:c.3438G>T, NM_015040.3:c.3438G>T, XM_011510778.4:c.3474G>T, XM_011510778.3:c.3474G>T, XM_011510778.2:c.3474G>T, XM_011510778.1:c.3474G>T, XM_011510781.4:c.3456G>T, XM_011510781.3:c.3456G>T, XM_011510781.2:c.3456G>T, XM_011510781.1:c.3456G>T, XM_011510782.4:c.3474G>T, XM_011510782.3:c.3474G>T, XM_011510782.2:c.3474G>T, XM_011510782.1:c.3474G>T, XM_011510783.4:c.3306G>T, XM_011510783.3:c.3306G>T, XM_011510783.2:c.3306G>T, XM_011510783.1:c.3306G>T, XM_011510785.4:c.3288G>T, XM_011510785.3:c.3288G>T, XM_011510785.2:c.3288G>T, XM_011510785.1:c.3288G>T, XM_011510786.4:c.3183G>T, XM_011510786.3:c.3183G>T, XM_011510786.2:c.3183G>T, XM_011510786.1:c.3183G>T, XM_011510792.4:c.3474G>T, XM_011510792.3:c.3474G>T, XM_011510792.2:c.3474G>T, XM_011510792.1:c.3474G>T, XM_011510779.3:c.3474G>T, XM_011510779.2:c.3474G>T, XM_011510779.1:c.3474G>T, XM_011510780.3:c.3471G>T, XM_011510780.2:c.3471G>T, XM_011510780.1:c.3471G>T, XM_011510784.3:c.3303G>T, XM_011510784.2:c.3303G>T, XM_011510784.1:c.3303G>T, XM_011510789.3:c.2997G>T, XM_011510789.2:c.2997G>T, XM_011510789.1:c.2997G>T, XM_017003568.2:c.3420G>T, XM_017003568.1:c.3420G>T, XM_017003569.2:c.3252G>T, XM_017003569.1:c.3252G>T, XM_011510787.2:c.3180G>T, XM_011510787.1:c.3180G>T, XM_011510788.2:c.3147G>T, XM_011510788.1:c.3147G>T, XM_017003570.2:c.2979G>T, XM_017003570.1:c.2979G>T, XM_017003571.2:c.2829G>T, XM_017003571.1:c.2829G>T, XM_017003574.2:c.2481G>T, XM_017003574.1:c.2481G>T, XM_047443667.1:c.3438G>T, XM_047443672.1:c.3270G>T, XM_047443670.1:c.3438G>T, XM_047443671.1:c.3270G>T, XM_047443673.1:c.3420G>T, XM_047443674.1:c.3147G>T, XM_047443676.1:c.3129G>T, XM_047443677.1:c.3270G>T, XM_047443679.1:c.3252G>T, XM_047443680.1:c.3015G>T, XM_047443681.1:c.3147G>T, XM_047443682.1:c.2979G>T, XM_047443686.1:c.3129G>T, XM_047443687.1:c.2961G>T, XM_047443689.1:c.2997G>T, XM_047443690.1:c.2979G>T, XM_047443695.1:c.2811G>T, XM_047443696.1:c.2961G>T, XM_047443698.1:c.2481G>T, XR_007070607.1:n.3644G>T, NM_001002881.1:c.2481G>T, NP_055855.2:p.Gln1146His, XP_011509080.1:p.Gln1158His, XP_011509083.1:p.Gln1152His, XP_011509084.1:p.Gln1158His, XP_011509085.1:p.Gln1102His, XP_011509087.1:p.Gln1096His, XP_011509088.1:p.Gln1061His, XP_011509094.1:p.Gln1158His, XP_011509081.1:p.Gln1158His, XP_011509082.1:p.Gln1157His, XP_011509086.1:p.Gln1101His, XP_011509091.1:p.Gln999His, XP_016859057.1:p.Gln1140His, XP_016859058.1:p.Gln1084His, XP_011509089.1:p.Gln1060His, XP_011509090.1:p.Gln1049His, XP_016859059.1:p.Gln993His, XP_016859060.1:p.Gln943His, XP_016859063.1:p.Gln827His, XP_047299623.1:p.Gln1146His, XP_047299628.1:p.Gln1090His, XP_047299626.1:p.Gln1146His, XP_047299627.1:p.Gln1090His, XP_047299629.1:p.Gln1140His, XP_047299630.1:p.Gln1049His, XP_047299632.1:p.Gln1043His, XP_047299633.1:p.Gln1090His, XP_047299635.1:p.Gln1084His, XP_047299636.1:p.Gln1005His, XP_047299637.1:p.Gln1049His, XP_047299638.1:p.Gln993His, XP_047299642.1:p.Gln1043His, XP_047299643.1:p.Gln987His, XP_047299645.1:p.Gln999His, XP_047299646.1:p.Gln993His, XP_047299651.1:p.Gln937His, XP_047299652.1:p.Gln987His, XP_047299654.1:p.Gln827His

                                        20.

                                        rs1482811425 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          2:208325467 (GRCh38)
                                          2:209190191 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:208325466:A:T
                                          Gene:
                                          PIKFYVE (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000002.12:g.208325467A>T, NC_000002.11:g.209190191A>T, NG_021188.1:g.64201A>T, NM_015040.4:c.2656A>T, NM_015040.3:c.2656A>T, XM_011510778.4:c.2692A>T, XM_011510778.3:c.2692A>T, XM_011510778.2:c.2692A>T, XM_011510778.1:c.2692A>T, XM_011510781.4:c.2674A>T, XM_011510781.3:c.2674A>T, XM_011510781.2:c.2674A>T, XM_011510781.1:c.2674A>T, XM_011510782.4:c.2692A>T, XM_011510782.3:c.2692A>T, XM_011510782.2:c.2692A>T, XM_011510782.1:c.2692A>T, XM_011510783.4:c.2524A>T, XM_011510783.3:c.2524A>T, XM_011510783.2:c.2524A>T, XM_011510783.1:c.2524A>T, XM_011510785.4:c.2506A>T, XM_011510785.3:c.2506A>T, XM_011510785.2:c.2506A>T, XM_011510785.1:c.2506A>T, XM_011510786.4:c.2401A>T, XM_011510786.3:c.2401A>T, XM_011510786.2:c.2401A>T, XM_011510786.1:c.2401A>T, XM_011510792.4:c.2692A>T, XM_011510792.3:c.2692A>T, XM_011510792.2:c.2692A>T, XM_011510792.1:c.2692A>T, XM_011510779.3:c.2692A>T, XM_011510779.2:c.2692A>T, XM_011510779.1:c.2692A>T, XM_011510780.3:c.2689A>T, XM_011510780.2:c.2689A>T, XM_011510780.1:c.2689A>T, XM_011510784.3:c.2521A>T, XM_011510784.2:c.2521A>T, XM_011510784.1:c.2521A>T, XM_011510789.3:c.2215A>T, XM_011510789.2:c.2215A>T, XM_011510789.1:c.2215A>T, XM_017003568.2:c.2638A>T, XM_017003568.1:c.2638A>T, XM_017003569.2:c.2470A>T, XM_017003569.1:c.2470A>T, XM_011510787.2:c.2398A>T, XM_011510787.1:c.2398A>T, XM_011510788.2:c.2365A>T, XM_011510788.1:c.2365A>T, XM_017003570.2:c.2197A>T, XM_017003570.1:c.2197A>T, XM_017003571.2:c.2047A>T, XM_017003571.1:c.2047A>T, XM_017003574.2:c.1699A>T, XM_017003574.1:c.1699A>T, XM_047443667.1:c.2656A>T, XM_047443672.1:c.2488A>T, XM_047443670.1:c.2656A>T, XM_047443671.1:c.2488A>T, XM_047443673.1:c.2638A>T, XM_047443674.1:c.2365A>T, XM_047443676.1:c.2347A>T, XM_047443677.1:c.2488A>T, XM_047443679.1:c.2470A>T, XM_047443680.1:c.2233A>T, XM_047443681.1:c.2365A>T, XM_047443682.1:c.2197A>T, XM_047443686.1:c.2347A>T, XM_047443687.1:c.2179A>T, XM_047443689.1:c.2215A>T, XM_047443690.1:c.2197A>T, XM_047443695.1:c.2029A>T, XM_047443696.1:c.2179A>T, XM_047443698.1:c.1699A>T, XR_007070607.1:n.2862A>T, NM_001002881.1:c.1699A>T, NP_055855.2:p.Asn886Tyr, XP_011509080.1:p.Asn898Tyr, XP_011509083.1:p.Asn892Tyr, XP_011509084.1:p.Asn898Tyr, XP_011509085.1:p.Asn842Tyr, XP_011509087.1:p.Asn836Tyr, XP_011509088.1:p.Asn801Tyr, XP_011509094.1:p.Asn898Tyr, XP_011509081.1:p.Asn898Tyr, XP_011509082.1:p.Asn897Tyr, XP_011509086.1:p.Asn841Tyr, XP_011509091.1:p.Asn739Tyr, XP_016859057.1:p.Asn880Tyr, XP_016859058.1:p.Asn824Tyr, XP_011509089.1:p.Asn800Tyr, XP_011509090.1:p.Asn789Tyr, XP_016859059.1:p.Asn733Tyr, XP_016859060.1:p.Asn683Tyr, XP_016859063.1:p.Asn567Tyr, XP_047299623.1:p.Asn886Tyr, XP_047299628.1:p.Asn830Tyr, XP_047299626.1:p.Asn886Tyr, XP_047299627.1:p.Asn830Tyr, XP_047299629.1:p.Asn880Tyr, XP_047299630.1:p.Asn789Tyr, XP_047299632.1:p.Asn783Tyr, XP_047299633.1:p.Asn830Tyr, XP_047299635.1:p.Asn824Tyr, XP_047299636.1:p.Asn745Tyr, XP_047299637.1:p.Asn789Tyr, XP_047299638.1:p.Asn733Tyr, XP_047299642.1:p.Asn783Tyr, XP_047299643.1:p.Asn727Tyr, XP_047299645.1:p.Asn739Tyr, XP_047299646.1:p.Asn733Tyr, XP_047299651.1:p.Asn677Tyr, XP_047299652.1:p.Asn727Tyr, XP_047299654.1:p.Asn567Tyr

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