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Items: 1 to 20 of 791

2.

rs1485587158 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    20:3165813 (GRCh38)
    20:3146459 (GRCh37)
    Canonical SPDI:
    NC_000020.11:3165812:G:A,NC_000020.11:3165812:G:C
    Gene:
    LZTS3 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    C=0.00006/1 (TOMMO)
    HGVS:
    NC_000020.11:g.3165813G>A, NC_000020.11:g.3165813G>C, NC_000020.10:g.3146459G>A, NC_000020.10:g.3146459G>C, XM_011529408.4:c.1097C>T, XM_011529408.4:c.1097C>G, XM_011529408.3:c.1097C>T, XM_011529408.3:c.1097C>G, XM_011529408.2:c.1097C>T, XM_011529408.2:c.1097C>G, XM_011529408.1:c.1097C>T, XM_011529408.1:c.1097C>G, XM_011529409.4:c.1097C>T, XM_011529409.4:c.1097C>G, XM_011529409.3:c.1097C>T, XM_011529409.3:c.1097C>G, XM_011529409.2:c.1097C>T, XM_011529409.2:c.1097C>G, XM_011529409.1:c.1097C>T, XM_011529409.1:c.1097C>G, NM_014731.2:c.1007C>T, NM_014731.2:c.1007C>G, NM_001282533.2:c.1007C>T, NM_001282533.2:c.1007C>G, NM_001282533.1:c.1007C>T, NM_001282533.1:c.1007C>G, NM_001365618.1:c.1007C>T, NM_001365618.1:c.1007C>G, NM_001388191.1:c.1007C>T, NM_001388191.1:c.1007C>G, NM_001388190.1:c.1007C>T, NM_001388190.1:c.1007C>G, NM_001367609.1:c.1097C>T, NM_001367609.1:c.1097C>G, NM_001388192.1:c.1097C>T, NM_001388192.1:c.1097C>G, NM_001388189.1:c.1007C>T, NM_001388189.1:c.1007C>G, NM_001388193.1:c.1007C>T, NM_001388193.1:c.1007C>G, XP_011527710.1:p.Ala366Val, XP_011527710.1:p.Ala366Gly, XP_011527711.1:p.Ala366Val, XP_011527711.1:p.Ala366Gly, NP_001269462.1:p.Ala336Val, NP_001269462.1:p.Ala336Gly, NP_001352547.1:p.Ala336Val, NP_001352547.1:p.Ala336Gly, NP_001375120.1:p.Ala336Val, NP_001375120.1:p.Ala336Gly, NP_001375119.1:p.Ala336Val, NP_001375119.1:p.Ala336Gly, NP_001354538.1:p.Ala366Val, NP_001354538.1:p.Ala366Gly, NP_001375121.1:p.Ala366Val, NP_001375121.1:p.Ala366Gly, NP_001375118.1:p.Ala336Val, NP_001375118.1:p.Ala336Gly, NP_001375122.1:p.Ala336Val, NP_001375122.1:p.Ala336Gly
    3.

    rs1485551829 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,C [Show Flanks]
      Chromosome:
      20:3164859 (GRCh38)
      20:3145505 (GRCh37)
      Canonical SPDI:
      NC_000020.11:3164858:G:A,NC_000020.11:3164858:G:C
      Gene:
      LZTS3 (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000007/1 (GnomAD)
      A=0.000011/3 (TOPMED)
      A=0.000019/3 (GnomAD_exomes)
      HGVS:
      NC_000020.11:g.3164859G>A, NC_000020.11:g.3164859G>C, NC_000020.10:g.3145505G>A, NC_000020.10:g.3145505G>C, XM_011529408.4:c.1707C>T, XM_011529408.4:c.1707C>G, XM_011529408.3:c.1707C>T, XM_011529408.3:c.1707C>G, XM_011529408.2:c.1707C>T, XM_011529408.2:c.1707C>G, XM_011529408.1:c.1707C>T, XM_011529408.1:c.1707C>G, XM_011529409.4:c.1707C>T, XM_011529409.4:c.1707C>G, XM_011529409.3:c.1707C>T, XM_011529409.3:c.1707C>G, XM_011529409.2:c.1707C>T, XM_011529409.2:c.1707C>G, XM_011529409.1:c.1707C>T, XM_011529409.1:c.1707C>G, NM_014731.2:c.1617C>T, NM_014731.2:c.1617C>G, NM_001282533.2:c.1479C>T, NM_001282533.2:c.1479C>G, NM_001282533.1:c.1479C>T, NM_001282533.1:c.1479C>G, NM_001365618.1:c.1617C>T, NM_001365618.1:c.1617C>G, NM_001388191.1:c.1617C>T, NM_001388191.1:c.1617C>G, NM_001388190.1:c.1617C>T, NM_001388190.1:c.1617C>G, NM_001367609.1:c.1707C>T, NM_001367609.1:c.1707C>G, NM_001388192.1:c.1644C>T, NM_001388192.1:c.1644C>G, NM_001388189.1:c.1617C>T, NM_001388189.1:c.1617C>G, NM_001388193.1:c.1554C>T, NM_001388193.1:c.1554C>G, XP_011527710.1:p.Asp569Glu, XP_011527711.1:p.Asp569Glu, NP_001269462.1:p.Asp493Glu, NP_001352547.1:p.Asp539Glu, NP_001375120.1:p.Asp539Glu, NP_001375119.1:p.Asp539Glu, NP_001354538.1:p.Asp569Glu, NP_001375121.1:p.Asp548Glu, NP_001375118.1:p.Asp539Glu, NP_001375122.1:p.Asp518Glu
      8.

      rs1482727548 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        20:3164724 (GRCh38)
        20:3145370 (GRCh37)
        Canonical SPDI:
        NC_000020.11:3164723:C:A,NC_000020.11:3164723:C:G,NC_000020.11:3164723:C:T
        Gene:
        LZTS3 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        A=0.000006/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000020.11:g.3164724C>A, NC_000020.11:g.3164724C>G, NC_000020.11:g.3164724C>T, NC_000020.10:g.3145370C>A, NC_000020.10:g.3145370C>G, NC_000020.10:g.3145370C>T, XM_011529408.4:c.1842G>T, XM_011529408.4:c.1842G>C, XM_011529408.4:c.1842G>A, XM_011529408.3:c.1842G>T, XM_011529408.3:c.1842G>C, XM_011529408.3:c.1842G>A, XM_011529408.2:c.1842G>T, XM_011529408.2:c.1842G>C, XM_011529408.2:c.1842G>A, XM_011529408.1:c.1842G>T, XM_011529408.1:c.1842G>C, XM_011529408.1:c.1842G>A, XM_011529409.4:c.1842G>T, XM_011529409.4:c.1842G>C, XM_011529409.4:c.1842G>A, XM_011529409.3:c.1842G>T, XM_011529409.3:c.1842G>C, XM_011529409.3:c.1842G>A, XM_011529409.2:c.1842G>T, XM_011529409.2:c.1842G>C, XM_011529409.2:c.1842G>A, XM_011529409.1:c.1842G>T, XM_011529409.1:c.1842G>C, XM_011529409.1:c.1842G>A, NM_014731.2:c.1752G>T, NM_014731.2:c.1752G>C, NM_014731.2:c.1752G>A, NM_001282533.2:c.1614G>T, NM_001282533.2:c.1614G>C, NM_001282533.2:c.1614G>A, NM_001282533.1:c.1614G>T, NM_001282533.1:c.1614G>C, NM_001282533.1:c.1614G>A, NM_001365618.1:c.1752G>T, NM_001365618.1:c.1752G>C, NM_001365618.1:c.1752G>A, NM_001388191.1:c.1752G>T, NM_001388191.1:c.1752G>C, NM_001388191.1:c.1752G>A, NM_001388190.1:c.1752G>T, NM_001388190.1:c.1752G>C, NM_001388190.1:c.1752G>A, NM_001367609.1:c.1842G>T, NM_001367609.1:c.1842G>C, NM_001367609.1:c.1842G>A, NM_001388192.1:c.1779G>T, NM_001388192.1:c.1779G>C, NM_001388192.1:c.1779G>A, NM_001388189.1:c.1752G>T, NM_001388189.1:c.1752G>C, NM_001388189.1:c.1752G>A, NM_001388193.1:c.1689G>T, NM_001388193.1:c.1689G>C, NM_001388193.1:c.1689G>A
        10.

        rs1481310489 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          20:3166021 (GRCh38)
          20:3146667 (GRCh37)
          Canonical SPDI:
          NC_000020.11:3166020:C:A,NC_000020.11:3166020:C:T
          Gene:
          LZTS3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          A=0.000035/1 (TOMMO)
          HGVS:
          NC_000020.11:g.3166021C>A, NC_000020.11:g.3166021C>T, NC_000020.10:g.3146667C>A, NC_000020.10:g.3146667C>T, XM_011529408.4:c.889G>T, XM_011529408.4:c.889G>A, XM_011529408.3:c.889G>T, XM_011529408.3:c.889G>A, XM_011529408.2:c.889G>T, XM_011529408.2:c.889G>A, XM_011529408.1:c.889G>T, XM_011529408.1:c.889G>A, XM_011529409.4:c.889G>T, XM_011529409.4:c.889G>A, XM_011529409.3:c.889G>T, XM_011529409.3:c.889G>A, XM_011529409.2:c.889G>T, XM_011529409.2:c.889G>A, XM_011529409.1:c.889G>T, XM_011529409.1:c.889G>A, NM_014731.2:c.799G>T, NM_014731.2:c.799G>A, NM_001282533.2:c.799G>T, NM_001282533.2:c.799G>A, NM_001282533.1:c.799G>T, NM_001282533.1:c.799G>A, NM_001365618.1:c.799G>T, NM_001365618.1:c.799G>A, NM_001388191.1:c.799G>T, NM_001388191.1:c.799G>A, NM_001388190.1:c.799G>T, NM_001388190.1:c.799G>A, NM_001367609.1:c.889G>T, NM_001367609.1:c.889G>A, NM_001388192.1:c.889G>T, NM_001388192.1:c.889G>A, NM_001388189.1:c.799G>T, NM_001388189.1:c.799G>A, NM_001388193.1:c.799G>T, NM_001388193.1:c.799G>A, XP_011527710.1:p.Gly297Trp, XP_011527710.1:p.Gly297Arg, XP_011527711.1:p.Gly297Trp, XP_011527711.1:p.Gly297Arg, NP_001269462.1:p.Gly267Trp, NP_001269462.1:p.Gly267Arg, NP_001352547.1:p.Gly267Trp, NP_001352547.1:p.Gly267Arg, NP_001375120.1:p.Gly267Trp, NP_001375120.1:p.Gly267Arg, NP_001375119.1:p.Gly267Trp, NP_001375119.1:p.Gly267Arg, NP_001354538.1:p.Gly297Trp, NP_001354538.1:p.Gly297Arg, NP_001375121.1:p.Gly297Trp, NP_001375121.1:p.Gly297Arg, NP_001375118.1:p.Gly267Trp, NP_001375118.1:p.Gly267Arg, NP_001375122.1:p.Gly267Trp, NP_001375122.1:p.Gly267Arg
          13.

          rs1479677930 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,C [Show Flanks]
            Chromosome:
            20:3165785 (GRCh38)
            20:3146431 (GRCh37)
            Canonical SPDI:
            NC_000020.11:3165784:G:A,NC_000020.11:3165784:G:C
            Gene:
            LZTS3 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.00003/1 (ALFA)
            HGVS:
            NC_000020.11:g.3165785G>A, NC_000020.11:g.3165785G>C, NC_000020.10:g.3146431G>A, NC_000020.10:g.3146431G>C, XM_011529408.4:c.1125C>T, XM_011529408.4:c.1125C>G, XM_011529408.3:c.1125C>T, XM_011529408.3:c.1125C>G, XM_011529408.2:c.1125C>T, XM_011529408.2:c.1125C>G, XM_011529408.1:c.1125C>T, XM_011529408.1:c.1125C>G, XM_011529409.4:c.1125C>T, XM_011529409.4:c.1125C>G, XM_011529409.3:c.1125C>T, XM_011529409.3:c.1125C>G, XM_011529409.2:c.1125C>T, XM_011529409.2:c.1125C>G, XM_011529409.1:c.1125C>T, XM_011529409.1:c.1125C>G, NM_014731.2:c.1035C>T, NM_014731.2:c.1035C>G, NM_001282533.2:c.1035C>T, NM_001282533.2:c.1035C>G, NM_001282533.1:c.1035C>T, NM_001282533.1:c.1035C>G, NM_001365618.1:c.1035C>T, NM_001365618.1:c.1035C>G, NM_001388191.1:c.1035C>T, NM_001388191.1:c.1035C>G, NM_001388190.1:c.1035C>T, NM_001388190.1:c.1035C>G, NM_001367609.1:c.1125C>T, NM_001367609.1:c.1125C>G, NM_001388192.1:c.1125C>T, NM_001388192.1:c.1125C>G, NM_001388189.1:c.1035C>T, NM_001388189.1:c.1035C>G, NM_001388193.1:c.1035C>T, NM_001388193.1:c.1035C>G, XP_011527710.1:p.Ser375Arg, XP_011527711.1:p.Ser375Arg, NP_001269462.1:p.Ser345Arg, NP_001352547.1:p.Ser345Arg, NP_001375120.1:p.Ser345Arg, NP_001375119.1:p.Ser345Arg, NP_001354538.1:p.Ser375Arg, NP_001375121.1:p.Ser375Arg, NP_001375118.1:p.Ser345Arg, NP_001375122.1:p.Ser345Arg
            15.
            18.

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