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Items: 1 to 20 of 1193

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.

      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

        4.

        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

          5.

          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

            6.

            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

              7.

              rs1487962861 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G,T [Show Flanks]
                Chromosome:
                2:208304931 (GRCh38)
                2:209169655 (GRCh37)
                Canonical SPDI:
                NC_000002.12:208304930:C:G,NC_000002.12:208304930:C:T
                Gene:
                PIKFYVE (Varview)
                Functional Consequence:
                intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.208304931C>G, NC_000002.12:g.208304931C>T, NC_000002.11:g.209169655C>G, NC_000002.11:g.209169655C>T, NG_021188.1:g.43665C>G, NG_021188.1:g.43665C>T, NM_015040.4:c.1554C>G, NM_015040.4:c.1554C>T, NM_015040.3:c.1554C>G, NM_015040.3:c.1554C>T, NM_152671.4:c.1263C>G, NM_152671.4:c.1263C>T, NM_152671.3:c.1263C>G, NM_152671.3:c.1263C>T, NM_001178000.2:c.1554C>G, NM_001178000.2:c.1554C>T, NM_001178000.1:c.1554C>G, NM_001178000.1:c.1554C>T, XM_011510778.4:c.1590C>G, XM_011510778.4:c.1590C>T, XM_011510778.3:c.1590C>G, XM_011510778.3:c.1590C>T, XM_011510778.2:c.1590C>G, XM_011510778.2:c.1590C>T, XM_011510778.1:c.1590C>G, XM_011510778.1:c.1590C>T, XM_011510781.4:c.1572C>G, XM_011510781.4:c.1572C>T, XM_011510781.3:c.1572C>G, XM_011510781.3:c.1572C>T, XM_011510781.2:c.1572C>G, XM_011510781.2:c.1572C>T, XM_011510781.1:c.1572C>G, XM_011510781.1:c.1572C>T, XM_011510782.4:c.1590C>G, XM_011510782.4:c.1590C>T, XM_011510782.3:c.1590C>G, XM_011510782.3:c.1590C>T, XM_011510782.2:c.1590C>G, XM_011510782.2:c.1590C>T, XM_011510782.1:c.1590C>G, XM_011510782.1:c.1590C>T, XM_011510786.4:c.1299C>G, XM_011510786.4:c.1299C>T, XM_011510786.3:c.1299C>G, XM_011510786.3:c.1299C>T, XM_011510786.2:c.1299C>G, XM_011510786.2:c.1299C>T, XM_011510786.1:c.1299C>G, XM_011510786.1:c.1299C>T, XM_011510792.4:c.1590C>G, XM_011510792.4:c.1590C>T, XM_011510792.3:c.1590C>G, XM_011510792.3:c.1590C>T, XM_011510792.2:c.1590C>G, XM_011510792.2:c.1590C>T, XM_011510792.1:c.1590C>G, XM_011510792.1:c.1590C>T, XM_011510779.3:c.1590C>G, XM_011510779.3:c.1590C>T, XM_011510779.2:c.1590C>G, XM_011510779.2:c.1590C>T, XM_011510779.1:c.1590C>G, XM_011510779.1:c.1590C>T, XM_011510780.3:c.1587C>G, XM_011510780.3:c.1587C>T, XM_011510780.2:c.1587C>G, XM_011510780.2:c.1587C>T, XM_011510780.1:c.1587C>G, XM_011510780.1:c.1587C>T, XM_011510789.3:c.1113C>G, XM_011510789.3:c.1113C>T, XM_011510789.2:c.1113C>G, XM_011510789.2:c.1113C>T, XM_011510789.1:c.1113C>G, XM_011510789.1:c.1113C>T, XM_017003568.2:c.1536C>G, XM_017003568.2:c.1536C>T, XM_017003568.1:c.1536C>G, XM_017003568.1:c.1536C>T, XM_011510787.2:c.1296C>G, XM_011510787.2:c.1296C>T, XM_011510787.1:c.1296C>G, XM_011510787.1:c.1296C>T, XM_011510788.2:c.1263C>G, XM_011510788.2:c.1263C>T, XM_011510788.1:c.1263C>G, XM_011510788.1:c.1263C>T, XM_017003574.2:c.597C>G, XM_017003574.2:c.597C>T, XM_017003574.1:c.597C>G, XM_017003574.1:c.597C>T, XM_047443667.1:c.1554C>G, XM_047443667.1:c.1554C>T, XM_047443670.1:c.1554C>G, XM_047443670.1:c.1554C>T, XM_047443673.1:c.1536C>G, XM_047443673.1:c.1536C>T, XM_047443674.1:c.1263C>G, XM_047443674.1:c.1263C>T, XM_047443676.1:c.1245C>G, XM_047443676.1:c.1245C>T, XM_047443681.1:c.1263C>G, XM_047443681.1:c.1263C>T, XM_047443682.1:c.1095C>G, XM_047443682.1:c.1095C>T, XM_047443686.1:c.1245C>G, XM_047443686.1:c.1245C>T, XM_047443689.1:c.1113C>G, XM_047443689.1:c.1113C>T, XM_047443698.1:c.597C>G, XM_047443698.1:c.597C>T, XR_007070607.1:n.1760C>G, XR_007070607.1:n.1760C>T, NM_001002881.1:c.597C>G, NM_001002881.1:c.597C>T, NP_055855.2:p.Asn518Lys, NP_689884.1:p.Asn421Lys, NP_001171471.1:p.Asn518Lys, XP_011509080.1:p.Asn530Lys, XP_011509083.1:p.Asn524Lys, XP_011509084.1:p.Asn530Lys, XP_011509088.1:p.Asn433Lys, XP_011509094.1:p.Asn530Lys, XP_011509081.1:p.Asn530Lys, XP_011509082.1:p.Asn529Lys, XP_011509091.1:p.Asn371Lys, XP_016859057.1:p.Asn512Lys, XP_011509089.1:p.Asn432Lys, XP_011509090.1:p.Asn421Lys, XP_016859063.1:p.Asn199Lys, XP_047299623.1:p.Asn518Lys, XP_047299626.1:p.Asn518Lys, XP_047299629.1:p.Asn512Lys, XP_047299630.1:p.Asn421Lys, XP_047299632.1:p.Asn415Lys, XP_047299637.1:p.Asn421Lys, XP_047299638.1:p.Asn365Lys, XP_047299642.1:p.Asn415Lys, XP_047299645.1:p.Asn371Lys, XP_047299654.1:p.Asn199Lys

                8.

                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

                  9.

                  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

                    10.

                    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

                      11.

                      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

                        12.

                        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

                          13.

                          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

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  rs1481831949 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    2:208325894 (GRCh38)
                                    2:209190618 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:208325893:C:
                                    Gene:
                                    PIKFYVE (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.208325894del, NC_000002.11:g.209190618del, NG_021188.1:g.64628del, NM_015040.4:c.3083del, NM_015040.3:c.3083del, XM_011510778.4:c.3119del, XM_011510778.3:c.3119del, XM_011510778.2:c.3119del, XM_011510778.1:c.3119del, XM_011510781.4:c.3101del, XM_011510781.3:c.3101del, XM_011510781.2:c.3101del, XM_011510781.1:c.3101del, XM_011510782.4:c.3119del, XM_011510782.3:c.3119del, XM_011510782.2:c.3119del, XM_011510782.1:c.3119del, XM_011510783.4:c.2951del, XM_011510783.3:c.2951del, XM_011510783.2:c.2951del, XM_011510783.1:c.2951del, XM_011510785.4:c.2933del, XM_011510785.3:c.2933del, XM_011510785.2:c.2933del, XM_011510785.1:c.2933del, XM_011510786.4:c.2828del, XM_011510786.3:c.2828del, XM_011510786.2:c.2828del, XM_011510786.1:c.2828del, XM_011510792.4:c.3119del, XM_011510792.3:c.3119del, XM_011510792.2:c.3119del, XM_011510792.1:c.3119del, XM_011510779.3:c.3119del, XM_011510779.2:c.3119del, XM_011510779.1:c.3119del, XM_011510780.3:c.3116del, XM_011510780.2:c.3116del, XM_011510780.1:c.3116del, XM_011510784.3:c.2948del, XM_011510784.2:c.2948del, XM_011510784.1:c.2948del, XM_011510789.3:c.2642del, XM_011510789.2:c.2642del, XM_011510789.1:c.2642del, XM_017003568.2:c.3065del, XM_017003568.1:c.3065del, XM_017003569.2:c.2897del, XM_017003569.1:c.2897del, XM_011510787.2:c.2825del, XM_011510787.1:c.2825del, XM_011510788.2:c.2792del, XM_011510788.1:c.2792del, XM_017003570.2:c.2624del, XM_017003570.1:c.2624del, XM_017003571.2:c.2474del, XM_017003571.1:c.2474del, XM_017003574.2:c.2126del, XM_017003574.1:c.2126del, XM_047443667.1:c.3083del, XM_047443672.1:c.2915del, XM_047443670.1:c.3083del, XM_047443671.1:c.2915del, XM_047443673.1:c.3065del, XM_047443674.1:c.2792del, XM_047443676.1:c.2774del, XM_047443677.1:c.2915del, XM_047443679.1:c.2897del, XM_047443680.1:c.2660del, XM_047443681.1:c.2792del, XM_047443682.1:c.2624del, XM_047443686.1:c.2774del, XM_047443687.1:c.2606del, XM_047443689.1:c.2642del, XM_047443690.1:c.2624del, XM_047443695.1:c.2456del, XM_047443696.1:c.2606del, XM_047443698.1:c.2126del, XR_007070607.1:n.3289del, NM_001002881.1:c.2126del, NP_055855.2:p.Thr1028fs, XP_011509080.1:p.Thr1040fs, XP_011509083.1:p.Thr1034fs, XP_011509084.1:p.Thr1040fs, XP_011509085.1:p.Thr984fs, XP_011509087.1:p.Thr978fs, XP_011509088.1:p.Thr943fs, XP_011509094.1:p.Thr1040fs, XP_011509081.1:p.Thr1040fs, XP_011509082.1:p.Thr1039fs, XP_011509086.1:p.Thr983fs, XP_011509091.1:p.Thr881fs, XP_016859057.1:p.Thr1022fs, XP_016859058.1:p.Thr966fs, XP_011509089.1:p.Thr942fs, XP_011509090.1:p.Thr931fs, XP_016859059.1:p.Thr875fs, XP_016859060.1:p.Thr825fs, XP_016859063.1:p.Thr709fs, XP_047299623.1:p.Thr1028fs, XP_047299628.1:p.Thr972fs, XP_047299626.1:p.Thr1028fs, XP_047299627.1:p.Thr972fs, XP_047299629.1:p.Thr1022fs, XP_047299630.1:p.Thr931fs, XP_047299632.1:p.Thr925fs, XP_047299633.1:p.Thr972fs, XP_047299635.1:p.Thr966fs, XP_047299636.1:p.Thr887fs, XP_047299637.1:p.Thr931fs, XP_047299638.1:p.Thr875fs, XP_047299642.1:p.Thr925fs, XP_047299643.1:p.Thr869fs, XP_047299645.1:p.Thr881fs, XP_047299646.1:p.Thr875fs, XP_047299651.1:p.Thr819fs, XP_047299652.1:p.Thr869fs, XP_047299654.1:p.Thr709fs

                                    18.

                                    rs1481613135 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      2:208271533 (GRCh38)
                                      2:209136257 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:208271532:A:G
                                      Gene:
                                      PIKFYVE (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000002.12:g.208271533A>G, NC_000002.11:g.209136257A>G, NG_021188.1:g.10267A>G, NM_015040.4:c.14A>G, NM_015040.3:c.14A>G, NM_152671.4:c.14A>G, NM_152671.3:c.14A>G, NM_001178000.2:c.14A>G, NM_001178000.1:c.14A>G, XM_011510778.4:c.14A>G, XM_011510778.3:c.14A>G, XM_011510778.2:c.14A>G, XM_011510778.1:c.14A>G, XM_011510781.4:c.14A>G, XM_011510781.3:c.14A>G, XM_011510781.2:c.14A>G, XM_011510781.1:c.14A>G, XM_011510782.4:c.14A>G, XM_011510782.3:c.14A>G, XM_011510782.2:c.14A>G, XM_011510782.1:c.14A>G, XM_011510783.4:c.14A>G, XM_011510783.3:c.14A>G, XM_011510783.2:c.14A>G, XM_011510783.1:c.14A>G, XM_011510785.4:c.14A>G, XM_011510785.3:c.14A>G, XM_011510785.2:c.14A>G, XM_011510785.1:c.14A>G, XM_011510786.4:c.14A>G, XM_011510786.3:c.14A>G, XM_011510786.2:c.14A>G, XM_011510786.1:c.14A>G, XM_011510792.4:c.14A>G, XM_011510792.3:c.14A>G, XM_011510792.2:c.14A>G, XM_011510792.1:c.14A>G, XM_011510779.3:c.14A>G, XM_011510779.2:c.14A>G, XM_011510779.1:c.14A>G, XM_011510780.3:c.14A>G, XM_011510780.2:c.14A>G, XM_011510780.1:c.14A>G, XM_011510784.3:c.14A>G, XM_011510784.2:c.14A>G, XM_011510784.1:c.14A>G, XM_011510789.3:c.14A>G, XM_011510789.2:c.14A>G, XM_011510789.1:c.14A>G, XM_017003568.2:c.14A>G, XM_017003568.1:c.14A>G, XM_017003569.2:c.14A>G, XM_017003569.1:c.14A>G, XM_011510787.2:c.14A>G, XM_011510787.1:c.14A>G, XM_011510788.2:c.14A>G, XM_011510788.1:c.14A>G, XM_017003570.2:c.14A>G, XM_017003570.1:c.14A>G, XM_017003571.2:c.14A>G, XM_017003571.1:c.14A>G, XM_047443667.1:c.14A>G, XM_047443672.1:c.14A>G, XM_047443670.1:c.14A>G, XM_047443671.1:c.14A>G, XM_047443673.1:c.14A>G, XM_047443674.1:c.14A>G, XM_047443676.1:c.14A>G, XM_047443677.1:c.14A>G, XM_047443679.1:c.14A>G, XM_047443680.1:c.14A>G, XM_047443681.1:c.14A>G, XM_047443682.1:c.14A>G, XM_047443686.1:c.14A>G, XM_047443687.1:c.14A>G, XM_047443689.1:c.14A>G, XM_047443690.1:c.14A>G, XM_047443695.1:c.14A>G, XM_047443696.1:c.14A>G, XR_007070607.1:n.184A>G, NM_001002881.1:c.-772A>G, NP_055855.2:p.Asp5Gly, NP_689884.1:p.Asp5Gly, NP_001171471.1:p.Asp5Gly, XP_011509080.1:p.Asp5Gly, XP_011509083.1:p.Asp5Gly, XP_011509084.1:p.Asp5Gly, XP_011509085.1:p.Asp5Gly, XP_011509087.1:p.Asp5Gly, XP_011509088.1:p.Asp5Gly, XP_011509094.1:p.Asp5Gly, XP_011509081.1:p.Asp5Gly, XP_011509082.1:p.Asp5Gly, XP_011509086.1:p.Asp5Gly, XP_011509091.1:p.Asp5Gly, XP_016859057.1:p.Asp5Gly, XP_016859058.1:p.Asp5Gly, XP_011509089.1:p.Asp5Gly, XP_011509090.1:p.Asp5Gly, XP_016859059.1:p.Asp5Gly, XP_016859060.1:p.Asp5Gly, XP_047299623.1:p.Asp5Gly, XP_047299628.1:p.Asp5Gly, XP_047299626.1:p.Asp5Gly, XP_047299627.1:p.Asp5Gly, XP_047299629.1:p.Asp5Gly, XP_047299630.1:p.Asp5Gly, XP_047299632.1:p.Asp5Gly, XP_047299633.1:p.Asp5Gly, XP_047299635.1:p.Asp5Gly, XP_047299636.1:p.Asp5Gly, XP_047299637.1:p.Asp5Gly, XP_047299638.1:p.Asp5Gly, XP_047299642.1:p.Asp5Gly, XP_047299643.1:p.Asp5Gly, XP_047299645.1:p.Asp5Gly, XP_047299646.1:p.Asp5Gly, XP_047299651.1:p.Asp5Gly, XP_047299652.1:p.Asp5Gly

                                      19.

                                      rs1480343829 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G,T [Show Flanks]
                                        Chromosome:
                                        2:208325399 (GRCh38)
                                        2:209190123 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:208325398:C:G,NC_000002.12:208325398:C: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)
                                        G=0.000004/1 (GnomAD_exomes)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.208325399C>G, NC_000002.12:g.208325399C>T, NC_000002.11:g.209190123C>G, NC_000002.11:g.209190123C>T, NG_021188.1:g.64133C>G, NG_021188.1:g.64133C>T, NM_015040.4:c.2588C>G, NM_015040.4:c.2588C>T, NM_015040.3:c.2588C>G, NM_015040.3:c.2588C>T, XM_011510778.4:c.2624C>G, XM_011510778.4:c.2624C>T, XM_011510778.3:c.2624C>G, XM_011510778.3:c.2624C>T, XM_011510778.2:c.2624C>G, XM_011510778.2:c.2624C>T, XM_011510778.1:c.2624C>G, XM_011510778.1:c.2624C>T, XM_011510781.4:c.2606C>G, XM_011510781.4:c.2606C>T, XM_011510781.3:c.2606C>G, XM_011510781.3:c.2606C>T, XM_011510781.2:c.2606C>G, XM_011510781.2:c.2606C>T, XM_011510781.1:c.2606C>G, XM_011510781.1:c.2606C>T, XM_011510782.4:c.2624C>G, XM_011510782.4:c.2624C>T, XM_011510782.3:c.2624C>G, XM_011510782.3:c.2624C>T, XM_011510782.2:c.2624C>G, XM_011510782.2:c.2624C>T, XM_011510782.1:c.2624C>G, XM_011510782.1:c.2624C>T, XM_011510783.4:c.2456C>G, XM_011510783.4:c.2456C>T, XM_011510783.3:c.2456C>G, XM_011510783.3:c.2456C>T, XM_011510783.2:c.2456C>G, XM_011510783.2:c.2456C>T, XM_011510783.1:c.2456C>G, XM_011510783.1:c.2456C>T, XM_011510785.4:c.2438C>G, XM_011510785.4:c.2438C>T, XM_011510785.3:c.2438C>G, XM_011510785.3:c.2438C>T, XM_011510785.2:c.2438C>G, XM_011510785.2:c.2438C>T, XM_011510785.1:c.2438C>G, XM_011510785.1:c.2438C>T, XM_011510786.4:c.2333C>G, XM_011510786.4:c.2333C>T, XM_011510786.3:c.2333C>G, XM_011510786.3:c.2333C>T, XM_011510786.2:c.2333C>G, XM_011510786.2:c.2333C>T, XM_011510786.1:c.2333C>G, XM_011510786.1:c.2333C>T, XM_011510792.4:c.2624C>G, XM_011510792.4:c.2624C>T, XM_011510792.3:c.2624C>G, XM_011510792.3:c.2624C>T, XM_011510792.2:c.2624C>G, XM_011510792.2:c.2624C>T, XM_011510792.1:c.2624C>G, XM_011510792.1:c.2624C>T, XM_011510779.3:c.2624C>G, XM_011510779.3:c.2624C>T, XM_011510779.2:c.2624C>G, XM_011510779.2:c.2624C>T, XM_011510779.1:c.2624C>G, XM_011510779.1:c.2624C>T, XM_011510780.3:c.2621C>G, XM_011510780.3:c.2621C>T, XM_011510780.2:c.2621C>G, XM_011510780.2:c.2621C>T, XM_011510780.1:c.2621C>G, XM_011510780.1:c.2621C>T, XM_011510784.3:c.2453C>G, XM_011510784.3:c.2453C>T, XM_011510784.2:c.2453C>G, XM_011510784.2:c.2453C>T, XM_011510784.1:c.2453C>G, XM_011510784.1:c.2453C>T, XM_011510789.3:c.2147C>G, XM_011510789.3:c.2147C>T, XM_011510789.2:c.2147C>G, XM_011510789.2:c.2147C>T, XM_011510789.1:c.2147C>G, XM_011510789.1:c.2147C>T, XM_017003568.2:c.2570C>G, XM_017003568.2:c.2570C>T, XM_017003568.1:c.2570C>G, XM_017003568.1:c.2570C>T, XM_017003569.2:c.2402C>G, XM_017003569.2:c.2402C>T, XM_017003569.1:c.2402C>G, XM_017003569.1:c.2402C>T, XM_011510787.2:c.2330C>G, XM_011510787.2:c.2330C>T, XM_011510787.1:c.2330C>G, XM_011510787.1:c.2330C>T, XM_011510788.2:c.2297C>G, XM_011510788.2:c.2297C>T, XM_011510788.1:c.2297C>G, XM_011510788.1:c.2297C>T, XM_017003570.2:c.2129C>G, XM_017003570.2:c.2129C>T, XM_017003570.1:c.2129C>G, XM_017003570.1:c.2129C>T, XM_017003571.2:c.1979C>G, XM_017003571.2:c.1979C>T, XM_017003571.1:c.1979C>G, XM_017003571.1:c.1979C>T, XM_017003574.2:c.1631C>G, XM_017003574.2:c.1631C>T, XM_017003574.1:c.1631C>G, XM_017003574.1:c.1631C>T, XM_047443667.1:c.2588C>G, XM_047443667.1:c.2588C>T, XM_047443672.1:c.2420C>G, XM_047443672.1:c.2420C>T, XM_047443670.1:c.2588C>G, XM_047443670.1:c.2588C>T, XM_047443671.1:c.2420C>G, XM_047443671.1:c.2420C>T, XM_047443673.1:c.2570C>G, XM_047443673.1:c.2570C>T, XM_047443674.1:c.2297C>G, XM_047443674.1:c.2297C>T, XM_047443676.1:c.2279C>G, XM_047443676.1:c.2279C>T, XM_047443677.1:c.2420C>G, XM_047443677.1:c.2420C>T, XM_047443679.1:c.2402C>G, XM_047443679.1:c.2402C>T, XM_047443680.1:c.2165C>G, XM_047443680.1:c.2165C>T, XM_047443681.1:c.2297C>G, XM_047443681.1:c.2297C>T, XM_047443682.1:c.2129C>G, XM_047443682.1:c.2129C>T, XM_047443686.1:c.2279C>G, XM_047443686.1:c.2279C>T, XM_047443687.1:c.2111C>G, XM_047443687.1:c.2111C>T, XM_047443689.1:c.2147C>G, XM_047443689.1:c.2147C>T, XM_047443690.1:c.2129C>G, XM_047443690.1:c.2129C>T, XM_047443695.1:c.1961C>G, XM_047443695.1:c.1961C>T, XM_047443696.1:c.2111C>G, XM_047443696.1:c.2111C>T, XM_047443698.1:c.1631C>G, XM_047443698.1:c.1631C>T, XR_007070607.1:n.2794C>G, XR_007070607.1:n.2794C>T, NM_001002881.1:c.1631C>G, NM_001002881.1:c.1631C>T, NP_055855.2:p.Ala863Gly, NP_055855.2:p.Ala863Val, XP_011509080.1:p.Ala875Gly, XP_011509080.1:p.Ala875Val, XP_011509083.1:p.Ala869Gly, XP_011509083.1:p.Ala869Val, XP_011509084.1:p.Ala875Gly, XP_011509084.1:p.Ala875Val, XP_011509085.1:p.Ala819Gly, XP_011509085.1:p.Ala819Val, XP_011509087.1:p.Ala813Gly, XP_011509087.1:p.Ala813Val, XP_011509088.1:p.Ala778Gly, XP_011509088.1:p.Ala778Val, XP_011509094.1:p.Ala875Gly, XP_011509094.1:p.Ala875Val, XP_011509081.1:p.Ala875Gly, XP_011509081.1:p.Ala875Val, XP_011509082.1:p.Ala874Gly, XP_011509082.1:p.Ala874Val, XP_011509086.1:p.Ala818Gly, XP_011509086.1:p.Ala818Val, XP_011509091.1:p.Ala716Gly, XP_011509091.1:p.Ala716Val, XP_016859057.1:p.Ala857Gly, XP_016859057.1:p.Ala857Val, XP_016859058.1:p.Ala801Gly, XP_016859058.1:p.Ala801Val, XP_011509089.1:p.Ala777Gly, XP_011509089.1:p.Ala777Val, XP_011509090.1:p.Ala766Gly, XP_011509090.1:p.Ala766Val, XP_016859059.1:p.Ala710Gly, XP_016859059.1:p.Ala710Val, XP_016859060.1:p.Ala660Gly, XP_016859060.1:p.Ala660Val, XP_016859063.1:p.Ala544Gly, XP_016859063.1:p.Ala544Val, XP_047299623.1:p.Ala863Gly, XP_047299623.1:p.Ala863Val, XP_047299628.1:p.Ala807Gly, XP_047299628.1:p.Ala807Val, XP_047299626.1:p.Ala863Gly, XP_047299626.1:p.Ala863Val, XP_047299627.1:p.Ala807Gly, XP_047299627.1:p.Ala807Val, XP_047299629.1:p.Ala857Gly, XP_047299629.1:p.Ala857Val, XP_047299630.1:p.Ala766Gly, XP_047299630.1:p.Ala766Val, XP_047299632.1:p.Ala760Gly, XP_047299632.1:p.Ala760Val, XP_047299633.1:p.Ala807Gly, XP_047299633.1:p.Ala807Val, XP_047299635.1:p.Ala801Gly, XP_047299635.1:p.Ala801Val, XP_047299636.1:p.Ala722Gly, XP_047299636.1:p.Ala722Val, XP_047299637.1:p.Ala766Gly, XP_047299637.1:p.Ala766Val, XP_047299638.1:p.Ala710Gly, XP_047299638.1:p.Ala710Val, XP_047299642.1:p.Ala760Gly, XP_047299642.1:p.Ala760Val, XP_047299643.1:p.Ala704Gly, XP_047299643.1:p.Ala704Val, XP_047299645.1:p.Ala716Gly, XP_047299645.1:p.Ala716Val, XP_047299646.1:p.Ala710Gly, XP_047299646.1:p.Ala710Val, XP_047299651.1:p.Ala654Gly, XP_047299651.1:p.Ala654Val, XP_047299652.1:p.Ala704Gly, XP_047299652.1:p.Ala704Val, XP_047299654.1:p.Ala544Gly, XP_047299654.1:p.Ala544Val

                                        20.

                                        rs1480225269 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:208302243 (GRCh38)
                                          2:209166967 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:208302242:G:A
                                          Gene:
                                          PIKFYVE (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.208302243G>A, NC_000002.11:g.209166967G>A, NG_021188.1:g.40977G>A, NM_015040.4:c.1210G>A, NM_015040.3:c.1210G>A, NM_152671.4:c.919G>A, NM_152671.3:c.919G>A, NM_001178000.2:c.1210G>A, NM_001178000.1:c.1210G>A, XM_011510778.4:c.1246G>A, XM_011510778.3:c.1246G>A, XM_011510778.2:c.1246G>A, XM_011510778.1:c.1246G>A, XM_011510781.4:c.1246G>A, XM_011510781.3:c.1246G>A, XM_011510781.2:c.1246G>A, XM_011510781.1:c.1246G>A, XM_011510782.4:c.1246G>A, XM_011510782.3:c.1246G>A, XM_011510782.2:c.1246G>A, XM_011510782.1:c.1246G>A, XM_011510783.4:c.1246G>A, XM_011510783.3:c.1246G>A, XM_011510783.2:c.1246G>A, XM_011510783.1:c.1246G>A, XM_011510785.4:c.1246G>A, XM_011510785.3:c.1246G>A, XM_011510785.2:c.1246G>A, XM_011510785.1:c.1246G>A, XM_011510786.4:c.955G>A, XM_011510786.3:c.955G>A, XM_011510786.2:c.955G>A, XM_011510786.1:c.955G>A, XM_011510792.4:c.1246G>A, XM_011510792.3:c.1246G>A, XM_011510792.2:c.1246G>A, XM_011510792.1:c.1246G>A, XM_011510779.3:c.1246G>A, XM_011510779.2:c.1246G>A, XM_011510779.1:c.1246G>A, XM_011510780.3:c.1243G>A, XM_011510780.2:c.1243G>A, XM_011510780.1:c.1243G>A, XM_011510784.3:c.1243G>A, XM_011510784.2:c.1243G>A, XM_011510784.1:c.1243G>A, XM_011510789.3:c.769G>A, XM_011510789.2:c.769G>A, XM_011510789.1:c.769G>A, XM_017003568.2:c.1210G>A, XM_017003568.1:c.1210G>A, XM_017003569.2:c.1210G>A, XM_017003569.1:c.1210G>A, XM_011510787.2:c.952G>A, XM_011510787.1:c.952G>A, XM_011510788.2:c.919G>A, XM_011510788.1:c.919G>A, XM_017003570.2:c.919G>A, XM_017003570.1:c.919G>A, XM_017003571.2:c.769G>A, XM_017003571.1:c.769G>A, XM_017003574.2:c.253G>A, XM_017003574.1:c.253G>A, XM_047443667.1:c.1210G>A, XM_047443672.1:c.1210G>A, XM_047443670.1:c.1210G>A, XM_047443671.1:c.1210G>A, XM_047443673.1:c.1210G>A, XM_047443674.1:c.919G>A, XM_047443676.1:c.919G>A, XM_047443677.1:c.1210G>A, XM_047443679.1:c.1210G>A, XM_047443680.1:c.955G>A, XM_047443681.1:c.919G>A, XM_047443682.1:c.769G>A, XM_047443686.1:c.919G>A, XM_047443687.1:c.919G>A, XM_047443689.1:c.769G>A, XM_047443690.1:c.919G>A, XM_047443695.1:c.769G>A, XM_047443696.1:c.919G>A, XM_047443698.1:c.253G>A, XR_007070607.1:n.1416G>A, NM_001002881.1:c.253G>A, NP_055855.2:p.Ala404Thr, NP_689884.1:p.Ala307Thr, NP_001171471.1:p.Ala404Thr, XP_011509080.1:p.Ala416Thr, XP_011509083.1:p.Ala416Thr, XP_011509084.1:p.Ala416Thr, XP_011509085.1:p.Ala416Thr, XP_011509087.1:p.Ala416Thr, XP_011509088.1:p.Ala319Thr, XP_011509094.1:p.Ala416Thr, XP_011509081.1:p.Ala416Thr, XP_011509082.1:p.Ala415Thr, XP_011509086.1:p.Ala415Thr, XP_011509091.1:p.Ala257Thr, XP_016859057.1:p.Ala404Thr, XP_016859058.1:p.Ala404Thr, XP_011509089.1:p.Ala318Thr, XP_011509090.1:p.Ala307Thr, XP_016859059.1:p.Ala307Thr, XP_016859060.1:p.Ala257Thr, XP_016859063.1:p.Ala85Thr, XP_047299623.1:p.Ala404Thr, XP_047299628.1:p.Ala404Thr, XP_047299626.1:p.Ala404Thr, XP_047299627.1:p.Ala404Thr, XP_047299629.1:p.Ala404Thr, XP_047299630.1:p.Ala307Thr, XP_047299632.1:p.Ala307Thr, XP_047299633.1:p.Ala404Thr, XP_047299635.1:p.Ala404Thr, XP_047299636.1:p.Ala319Thr, XP_047299637.1:p.Ala307Thr, XP_047299638.1:p.Ala257Thr, XP_047299642.1:p.Ala307Thr, XP_047299643.1:p.Ala307Thr, XP_047299645.1:p.Ala257Thr, XP_047299646.1:p.Ala307Thr, XP_047299651.1:p.Ala257Thr, XP_047299652.1:p.Ala307Thr, XP_047299654.1:p.Ala85Thr

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