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Items: 1 to 20 of 496

1.

rs1488985437 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    5:748467 (GRCh38)
    5:748582 (GRCh37)
    Canonical SPDI:
    NC_000005.10:748466:G:A
    Gene:
    ZDHHC11B (Varview)
    Functional Consequence:
    coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000005.10:g.748467G>A, NC_000005.9:g.748582G>A, XM_017010114.3:c.886C>T, XM_017010114.2:c.886C>T, XM_017010114.1:c.886C>T, XM_017010113.3:c.886C>T, XM_017010113.2:c.886C>T, XM_017010113.1:c.886C>T, XM_017010115.3:c.886C>T, XM_017010115.2:c.886C>T, XM_017010115.1:c.886C>T, XM_017010116.3:c.886C>T, XM_017010116.2:c.886C>T, XM_017010116.1:c.886C>T, XM_017010117.2:c.721C>T, XM_017010117.1:c.721C>T, XM_017010112.2:c.886C>T, XM_017010112.1:c.886C>T, NR_147095.2:n.2056C>T, NR_147095.1:n.2082C>T, XM_017010110.2:c.886C>T, XM_017010110.1:c.886C>T, XM_017010111.2:c.886C>T, XM_017010111.1:c.886C>T, NR_147096.2:n.1091C>T, NR_147096.1:n.1117C>T, NM_001351303.2:c.721C>T, NM_001351303.1:c.721C>T, XM_024446188.1:c.886C>T, XM_047417580.1:c.886C>T, XM_017010121.1:c.*875C>T, XM_047417582.1:c.*875C>T, XM_017010118.1:c.878C>T, XM_017010119.1:c.833C>T, XP_016865603.1:p.Leu296Phe, XP_016865602.1:p.Leu296Phe, XP_016865604.1:p.Leu296Phe, XP_016865605.1:p.Leu296Phe, XP_016865606.1:p.Leu241Phe, XP_016865601.1:p.Leu296Phe, XP_016865599.1:p.Leu296Phe, XP_016865600.1:p.Leu296Phe, NP_001338232.1:p.Leu241Phe, XP_024301956.1:p.Leu296Phe, XP_047273536.1:p.Leu296Phe, XP_016865607.1:p.Ala293Val, XP_016865608.1:p.Ala278Val
    2.

    rs1488984498 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      5:751140 (GRCh38)
      5:751255 (GRCh37)
      Canonical SPDI:
      NC_000005.10:751139:C:A,NC_000005.10:751139:C:T
      Gene:
      ZDHHC11B (Varview)
      Functional Consequence:
      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,splice_donor_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      A=0.000005/1 (GnomAD_exomes)
      HGVS:
      NC_000005.10:g.751140C>A, NC_000005.10:g.751140C>T, NC_000005.9:g.751255C>A, NC_000005.9:g.751255C>T, XM_017010114.3:c.786G>T, XM_017010114.3:c.786G>A, XM_017010114.2:c.786G>T, XM_017010114.2:c.786G>A, XM_017010114.1:c.786G>T, XM_017010114.1:c.786G>A, XM_017010113.3:c.786G>T, XM_017010113.3:c.786G>A, XM_017010113.2:c.786G>T, XM_017010113.2:c.786G>A, XM_017010113.1:c.786G>T, XM_017010113.1:c.786G>A, XM_017010115.3:c.786G>T, XM_017010115.3:c.786G>A, XM_017010115.2:c.786G>T, XM_017010115.2:c.786G>A, XM_017010115.1:c.786G>T, XM_017010115.1:c.786G>A, XM_017010116.3:c.786G>T, XM_017010116.3:c.786G>A, XM_017010116.2:c.786G>T, XM_017010116.2:c.786G>A, XM_017010116.1:c.786G>T, XM_017010116.1:c.786G>A, XM_017010117.2:c.621G>T, XM_017010117.2:c.621G>A, XM_017010117.1:c.621G>T, XM_017010117.1:c.621G>A, XM_017010112.2:c.786G>T, XM_017010112.2:c.786G>A, XM_017010112.1:c.786G>T, XM_017010112.1:c.786G>A, NR_147095.2:n.1000G>T, NR_147095.2:n.1000G>A, NR_147095.1:n.1026G>T, NR_147095.1:n.1026G>A, XM_017010110.2:c.786G>T, XM_017010110.2:c.786G>A, XM_017010110.1:c.786G>T, XM_017010110.1:c.786G>A, XM_017010111.2:c.786G>T, XM_017010111.2:c.786G>A, XM_017010111.1:c.786G>T, XM_017010111.1:c.786G>A, NR_147096.2:n.991G>T, NR_147096.2:n.991G>A, NR_147096.1:n.1017G>T, NR_147096.1:n.1017G>A, NM_001351303.2:c.621G>T, NM_001351303.2:c.621G>A, NM_001351303.1:c.621G>T, NM_001351303.1:c.621G>A, XM_024446188.1:c.786G>T, XM_024446188.1:c.786G>A, XM_047417580.1:c.786G>T, XM_047417580.1:c.786G>A, XM_017010119.1:c.786G>T, XM_017010119.1:c.786G>A, XM_047417583.1:c.786G>T, XM_047417583.1:c.786G>A, XM_047417584.1:c.786G>T, XM_047417584.1:c.786G>A, XP_016865603.1:p.Arg262Ser, XP_016865602.1:p.Arg262Ser, XP_016865604.1:p.Arg262Ser, XP_016865605.1:p.Arg262Ser, XP_016865606.1:p.Arg207Ser, XP_016865601.1:p.Arg262Ser, XP_016865599.1:p.Arg262Ser, XP_016865600.1:p.Arg262Ser, NP_001338232.1:p.Arg207Ser, XP_024301956.1:p.Arg262Ser, XP_047273536.1:p.Arg262Ser, XP_016865608.1:p.Arg262Ser, XP_047273539.1:p.Arg262Ser, XP_047273540.1:p.Arg262Ser
      3.

      rs1487984574 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        5:755014 (GRCh38)
        5:755129 (GRCh37)
        Canonical SPDI:
        NC_000005.10:755013:C:G
        Gene:
        ZDHHC11B (Varview)
        Functional Consequence:
        non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.00001/1 (GnomAD_exomes)
        HGVS:
        NC_000005.10:g.755014C>G, NC_000005.9:g.755129C>G, XM_017010114.3:c.652G>C, XM_017010114.2:c.652G>C, XM_017010114.1:c.652G>C, XM_017010113.3:c.652G>C, XM_017010113.2:c.652G>C, XM_017010113.1:c.652G>C, XM_017010115.3:c.652G>C, XM_017010115.2:c.652G>C, XM_017010115.1:c.652G>C, XM_017010116.3:c.652G>C, XM_017010116.2:c.652G>C, XM_017010116.1:c.652G>C, XM_017010117.2:c.487G>C, XM_017010117.1:c.487G>C, XM_017010112.2:c.652G>C, XM_017010112.1:c.652G>C, NR_147095.2:n.866G>C, NR_147095.1:n.892G>C, XM_017010110.2:c.652G>C, XM_017010110.1:c.652G>C, XM_017010111.2:c.652G>C, XM_017010111.1:c.652G>C, NR_147096.2:n.857G>C, NR_147096.1:n.883G>C, NM_001351303.2:c.487G>C, NM_001351303.1:c.487G>C, XM_024446188.1:c.652G>C, XM_047417580.1:c.652G>C, XM_017010121.1:c.652G>C, XM_047417582.1:c.652G>C, XM_017010118.1:c.652G>C, XM_017010119.1:c.652G>C, XM_047417583.1:c.652G>C, XM_047417584.1:c.652G>C, XP_016865603.1:p.Gly218Arg, XP_016865602.1:p.Gly218Arg, XP_016865604.1:p.Gly218Arg, XP_016865605.1:p.Gly218Arg, XP_016865606.1:p.Gly163Arg, XP_016865601.1:p.Gly218Arg, XP_016865599.1:p.Gly218Arg, XP_016865600.1:p.Gly218Arg, NP_001338232.1:p.Gly163Arg, XP_024301956.1:p.Gly218Arg, XP_047273536.1:p.Gly218Arg, XP_016865610.1:p.Gly218Arg, XP_047273538.1:p.Gly218Arg, XP_016865607.1:p.Gly218Arg, XP_016865608.1:p.Gly218Arg, XP_047273539.1:p.Gly218Arg, XP_047273540.1:p.Gly218Arg
        5.

        rs1484400872 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          5:745214 (GRCh38)
          5:745329 (GRCh37)
          Canonical SPDI:
          NC_000005.10:745213:G:A
          Gene:
          ZDHHC11B (Varview)
          Functional Consequence:
          coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000005.10:g.745214G>A, NC_000005.9:g.745329G>A, XM_017010114.3:c.1034C>T, XM_017010114.2:c.1034C>T, XM_017010114.1:c.1034C>T, XM_017010113.3:c.1034C>T, XM_017010113.2:c.1034C>T, XM_017010113.1:c.1034C>T, XM_017010115.3:c.1034C>T, XM_017010115.2:c.1034C>T, XM_017010115.1:c.1034C>T, XM_017010116.3:c.1034C>T, XM_017010116.2:c.1034C>T, XM_017010116.1:c.1034C>T, XM_017010117.2:c.869C>T, XM_017010117.1:c.869C>T, XM_017010112.2:c.1034C>T, XM_017010112.1:c.1034C>T, NR_147095.2:n.2204C>T, NR_147095.1:n.2230C>T, XM_017010110.2:c.1034C>T, XM_017010110.1:c.1034C>T, XM_017010111.2:c.1034C>T, XM_017010111.1:c.1034C>T, NR_147096.2:n.1239C>T, NR_147096.1:n.1265C>T, NM_001351303.2:c.869C>T, NM_001351303.1:c.869C>T, XM_024446188.1:c.1034C>T, XM_047417580.1:c.1034C>T, XM_017010118.1:c.*60C>T, XM_017010119.1:c.*60C>T, XP_016865603.1:p.Pro345Leu, XP_016865602.1:p.Pro345Leu, XP_016865604.1:p.Pro345Leu, XP_016865605.1:p.Pro345Leu, XP_016865606.1:p.Pro290Leu, XP_016865601.1:p.Pro345Leu, XP_016865599.1:p.Pro345Leu, XP_016865600.1:p.Pro345Leu, NP_001338232.1:p.Pro290Leu, XP_024301956.1:p.Pro345Leu, XP_047273536.1:p.Pro345Leu
          6.

          rs1481236875 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            5:766888 (GRCh38)
            5:767003 (GRCh37)
            Canonical SPDI:
            NC_000005.10:766887:A:T
            Gene:
            ZDHHC11B (Varview)
            Functional Consequence:
            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=0.000007/1 (GnomAD)
            HGVS:
            NC_000005.10:g.766888A>T, NC_000005.9:g.767003A>T, XM_017010114.3:c.32T>A, XM_017010114.2:c.32T>A, XM_017010114.1:c.32T>A, XM_017010113.3:c.32T>A, XM_017010113.2:c.32T>A, XM_017010113.1:c.32T>A, XM_017010115.3:c.32T>A, XM_017010115.2:c.32T>A, XM_017010115.1:c.32T>A, XM_017010116.3:c.32T>A, XM_017010116.2:c.32T>A, XM_017010116.1:c.32T>A, XM_017010117.2:c.32T>A, XM_017010117.1:c.32T>A, XM_017010112.2:c.32T>A, XM_017010112.1:c.32T>A, NR_147095.2:n.497T>A, NR_147095.1:n.523T>A, XM_017010110.2:c.32T>A, XM_017010110.1:c.32T>A, XM_017010111.2:c.32T>A, XM_017010111.1:c.32T>A, NR_147096.2:n.323T>A, NR_147096.1:n.349T>A, NM_001351303.2:c.32T>A, NM_001351303.1:c.32T>A, XM_024446188.1:c.32T>A, XM_047417580.1:c.32T>A, XM_017010121.1:c.32T>A, XM_047417582.1:c.32T>A, XM_017010118.1:c.32T>A, XM_017010119.1:c.32T>A, XM_047417583.1:c.32T>A, XM_047417584.1:c.32T>A, XP_016865603.1:p.Val11Asp, XP_016865602.1:p.Val11Asp, XP_016865604.1:p.Val11Asp, XP_016865605.1:p.Val11Asp, XP_016865606.1:p.Val11Asp, XP_016865601.1:p.Val11Asp, XP_016865599.1:p.Val11Asp, XP_016865600.1:p.Val11Asp, NP_001338232.1:p.Val11Asp, XP_024301956.1:p.Val11Asp, XP_047273536.1:p.Val11Asp, XP_016865610.1:p.Val11Asp, XP_047273538.1:p.Val11Asp, XP_016865607.1:p.Val11Asp, XP_016865608.1:p.Val11Asp, XP_047273539.1:p.Val11Asp, XP_047273540.1:p.Val11Asp
            7.

            rs1480240628 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              5:751212 (GRCh38)
              5:751327 (GRCh37)
              Canonical SPDI:
              NC_000005.10:751211:G:A,NC_000005.10:751211:G:T
              Gene:
              ZDHHC11B (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,stop_gained,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              HGVS:
              NC_000005.10:g.751212G>A, NC_000005.10:g.751212G>T, NC_000005.9:g.751327G>A, NC_000005.9:g.751327G>T, XM_017010114.3:c.714C>T, XM_017010114.3:c.714C>A, XM_017010114.2:c.714C>T, XM_017010114.2:c.714C>A, XM_017010114.1:c.714C>T, XM_017010114.1:c.714C>A, XM_017010113.3:c.714C>T, XM_017010113.3:c.714C>A, XM_017010113.2:c.714C>T, XM_017010113.2:c.714C>A, XM_017010113.1:c.714C>T, XM_017010113.1:c.714C>A, XM_017010115.3:c.714C>T, XM_017010115.3:c.714C>A, XM_017010115.2:c.714C>T, XM_017010115.2:c.714C>A, XM_017010115.1:c.714C>T, XM_017010115.1:c.714C>A, XM_017010116.3:c.714C>T, XM_017010116.3:c.714C>A, XM_017010116.2:c.714C>T, XM_017010116.2:c.714C>A, XM_017010116.1:c.714C>T, XM_017010116.1:c.714C>A, XM_017010117.2:c.549C>T, XM_017010117.2:c.549C>A, XM_017010117.1:c.549C>T, XM_017010117.1:c.549C>A, XM_017010112.2:c.714C>T, XM_017010112.2:c.714C>A, XM_017010112.1:c.714C>T, XM_017010112.1:c.714C>A, NR_147095.2:n.928C>T, NR_147095.2:n.928C>A, NR_147095.1:n.954C>T, NR_147095.1:n.954C>A, XM_017010110.2:c.714C>T, XM_017010110.2:c.714C>A, XM_017010110.1:c.714C>T, XM_017010110.1:c.714C>A, XM_017010111.2:c.714C>T, XM_017010111.2:c.714C>A, XM_017010111.1:c.714C>T, XM_017010111.1:c.714C>A, NR_147096.2:n.919C>T, NR_147096.2:n.919C>A, NR_147096.1:n.945C>T, NR_147096.1:n.945C>A, NM_001351303.2:c.549C>T, NM_001351303.2:c.549C>A, NM_001351303.1:c.549C>T, NM_001351303.1:c.549C>A, XM_024446188.1:c.714C>T, XM_024446188.1:c.714C>A, XM_047417580.1:c.714C>T, XM_047417580.1:c.714C>A, XM_017010121.1:c.714C>T, XM_017010121.1:c.714C>A, XM_047417582.1:c.714C>T, XM_047417582.1:c.714C>A, XM_017010118.1:c.714C>T, XM_017010118.1:c.714C>A, XM_017010119.1:c.714C>T, XM_017010119.1:c.714C>A, XM_047417583.1:c.714C>T, XM_047417583.1:c.714C>A, XM_047417584.1:c.714C>T, XM_047417584.1:c.714C>A, XP_016865603.1:p.Cys238Ter, XP_016865602.1:p.Cys238Ter, XP_016865604.1:p.Cys238Ter, XP_016865605.1:p.Cys238Ter, XP_016865606.1:p.Cys183Ter, XP_016865601.1:p.Cys238Ter, XP_016865599.1:p.Cys238Ter, XP_016865600.1:p.Cys238Ter, NP_001338232.1:p.Cys183Ter, XP_024301956.1:p.Cys238Ter, XP_047273536.1:p.Cys238Ter, XP_016865610.1:p.Cys238Ter, XP_047273538.1:p.Cys238Ter, XP_016865607.1:p.Cys238Ter, XP_016865608.1:p.Cys238Ter, XP_047273539.1:p.Cys238Ter, XP_047273540.1:p.Cys238Ter
              9.

              rs1480075639 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                5:755967 (GRCh38)
                5:756082 (GRCh37)
                Canonical SPDI:
                NC_000005.10:755966:C:A,NC_000005.10:755966:C:T
                Gene:
                ZDHHC11B (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000029/3 (GnomAD)
                C=0.5/1 (SGDP_PRJ)
                HGVS:
                NC_000005.10:g.755967C>A, NC_000005.10:g.755967C>T, NC_000005.9:g.756082C>A, NC_000005.9:g.756082C>T, XM_017010114.3:c.400G>T, XM_017010114.3:c.400G>A, XM_017010114.2:c.400G>T, XM_017010114.2:c.400G>A, XM_017010114.1:c.400G>T, XM_017010114.1:c.400G>A, XM_017010113.3:c.400G>T, XM_017010113.3:c.400G>A, XM_017010113.2:c.400G>T, XM_017010113.2:c.400G>A, XM_017010113.1:c.400G>T, XM_017010113.1:c.400G>A, XM_017010115.3:c.400G>T, XM_017010115.3:c.400G>A, XM_017010115.2:c.400G>T, XM_017010115.2:c.400G>A, XM_017010115.1:c.400G>T, XM_017010115.1:c.400G>A, XM_017010116.3:c.400G>T, XM_017010116.3:c.400G>A, XM_017010116.2:c.400G>T, XM_017010116.2:c.400G>A, XM_017010116.1:c.400G>T, XM_017010116.1:c.400G>A, XM_017010117.2:c.400G>T, XM_017010117.2:c.400G>A, XM_017010117.1:c.400G>T, XM_017010117.1:c.400G>A, XM_017010112.2:c.400G>T, XM_017010112.2:c.400G>A, XM_017010112.1:c.400G>T, XM_017010112.1:c.400G>A, XM_017010110.2:c.400G>T, XM_017010110.2:c.400G>A, XM_017010110.1:c.400G>T, XM_017010110.1:c.400G>A, XM_017010111.2:c.400G>T, XM_017010111.2:c.400G>A, XM_017010111.1:c.400G>T, XM_017010111.1:c.400G>A, NM_001351303.2:c.400G>T, NM_001351303.2:c.400G>A, NM_001351303.1:c.400G>T, NM_001351303.1:c.400G>A, XM_024446188.1:c.400G>T, XM_024446188.1:c.400G>A, XM_047417580.1:c.400G>T, XM_047417580.1:c.400G>A, XM_017010121.1:c.400G>T, XM_017010121.1:c.400G>A, XM_047417582.1:c.400G>T, XM_047417582.1:c.400G>A, XM_017010118.1:c.400G>T, XM_017010118.1:c.400G>A, XM_017010119.1:c.400G>T, XM_017010119.1:c.400G>A, XM_047417583.1:c.400G>T, XM_047417583.1:c.400G>A, XM_047417584.1:c.400G>T, XM_047417584.1:c.400G>A, XP_016865603.1:p.Val134Leu, XP_016865603.1:p.Val134Met, XP_016865602.1:p.Val134Leu, XP_016865602.1:p.Val134Met, XP_016865604.1:p.Val134Leu, XP_016865604.1:p.Val134Met, XP_016865605.1:p.Val134Leu, XP_016865605.1:p.Val134Met, XP_016865606.1:p.Val134Leu, XP_016865606.1:p.Val134Met, XP_016865601.1:p.Val134Leu, XP_016865601.1:p.Val134Met, XP_016865599.1:p.Val134Leu, XP_016865599.1:p.Val134Met, XP_016865600.1:p.Val134Leu, XP_016865600.1:p.Val134Met, NP_001338232.1:p.Val134Leu, NP_001338232.1:p.Val134Met, XP_024301956.1:p.Val134Leu, XP_024301956.1:p.Val134Met, XP_047273536.1:p.Val134Leu, XP_047273536.1:p.Val134Met, XP_016865610.1:p.Val134Leu, XP_016865610.1:p.Val134Met, XP_047273538.1:p.Val134Leu, XP_047273538.1:p.Val134Met, XP_016865607.1:p.Val134Leu, XP_016865607.1:p.Val134Met, XP_016865608.1:p.Val134Leu, XP_016865608.1:p.Val134Met, XP_047273539.1:p.Val134Leu, XP_047273539.1:p.Val134Met, XP_047273540.1:p.Val134Leu, XP_047273540.1:p.Val134Met
                10.

                rs1477393366 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  5:755976 (GRCh38)
                  5:756091 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:755975:T:C
                  Gene:
                  ZDHHC11B (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.00002/2 (GnomAD_exomes)
                  HGVS:
                  NC_000005.10:g.755976T>C, NC_000005.9:g.756091T>C, XM_017010114.3:c.391A>G, XM_017010114.2:c.391A>G, XM_017010114.1:c.391A>G, XM_017010113.3:c.391A>G, XM_017010113.2:c.391A>G, XM_017010113.1:c.391A>G, XM_017010115.3:c.391A>G, XM_017010115.2:c.391A>G, XM_017010115.1:c.391A>G, XM_017010116.3:c.391A>G, XM_017010116.2:c.391A>G, XM_017010116.1:c.391A>G, XM_017010117.2:c.391A>G, XM_017010117.1:c.391A>G, XM_017010112.2:c.391A>G, XM_017010112.1:c.391A>G, XM_017010110.2:c.391A>G, XM_017010110.1:c.391A>G, XM_017010111.2:c.391A>G, XM_017010111.1:c.391A>G, NM_001351303.2:c.391A>G, NM_001351303.1:c.391A>G, XM_024446188.1:c.391A>G, XM_047417580.1:c.391A>G, XM_017010121.1:c.391A>G, XM_047417582.1:c.391A>G, XM_017010118.1:c.391A>G, XM_017010119.1:c.391A>G, XM_047417583.1:c.391A>G, XM_047417584.1:c.391A>G, XP_016865603.1:p.Lys131Glu, XP_016865602.1:p.Lys131Glu, XP_016865604.1:p.Lys131Glu, XP_016865605.1:p.Lys131Glu, XP_016865606.1:p.Lys131Glu, XP_016865601.1:p.Lys131Glu, XP_016865599.1:p.Lys131Glu, XP_016865600.1:p.Lys131Glu, NP_001338232.1:p.Lys131Glu, XP_024301956.1:p.Lys131Glu, XP_047273536.1:p.Lys131Glu, XP_016865610.1:p.Lys131Glu, XP_047273538.1:p.Lys131Glu, XP_016865607.1:p.Lys131Glu, XP_016865608.1:p.Lys131Glu, XP_047273539.1:p.Lys131Glu, XP_047273540.1:p.Lys131Glu
                  11.
                  13.

                  rs1466971892 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    5:756088 (GRCh38)
                    5:756203 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:756087:G:A,NC_000005.10:756087:G:T
                    Gene:
                    ZDHHC11B (Varview)
                    Functional Consequence:
                    synonymous_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000005.10:g.756088G>A, NC_000005.10:g.756088G>T, NC_000005.9:g.756203G>A, NC_000005.9:g.756203G>T, XM_017010114.3:c.279C>T, XM_017010114.3:c.279C>A, XM_017010114.2:c.279C>T, XM_017010114.2:c.279C>A, XM_017010114.1:c.279C>T, XM_017010114.1:c.279C>A, XM_017010113.3:c.279C>T, XM_017010113.3:c.279C>A, XM_017010113.2:c.279C>T, XM_017010113.2:c.279C>A, XM_017010113.1:c.279C>T, XM_017010113.1:c.279C>A, XM_017010115.3:c.279C>T, XM_017010115.3:c.279C>A, XM_017010115.2:c.279C>T, XM_017010115.2:c.279C>A, XM_017010115.1:c.279C>T, XM_017010115.1:c.279C>A, XM_017010116.3:c.279C>T, XM_017010116.3:c.279C>A, XM_017010116.2:c.279C>T, XM_017010116.2:c.279C>A, XM_017010116.1:c.279C>T, XM_017010116.1:c.279C>A, XM_017010117.2:c.279C>T, XM_017010117.2:c.279C>A, XM_017010117.1:c.279C>T, XM_017010117.1:c.279C>A, XM_017010112.2:c.279C>T, XM_017010112.2:c.279C>A, XM_017010112.1:c.279C>T, XM_017010112.1:c.279C>A, XM_017010110.2:c.279C>T, XM_017010110.2:c.279C>A, XM_017010110.1:c.279C>T, XM_017010110.1:c.279C>A, XM_017010111.2:c.279C>T, XM_017010111.2:c.279C>A, XM_017010111.1:c.279C>T, XM_017010111.1:c.279C>A, NM_001351303.2:c.279C>T, NM_001351303.2:c.279C>A, NM_001351303.1:c.279C>T, NM_001351303.1:c.279C>A, XM_024446188.1:c.279C>T, XM_024446188.1:c.279C>A, XM_047417580.1:c.279C>T, XM_047417580.1:c.279C>A, XM_017010121.1:c.279C>T, XM_017010121.1:c.279C>A, XM_047417582.1:c.279C>T, XM_047417582.1:c.279C>A, XM_017010118.1:c.279C>T, XM_017010118.1:c.279C>A, XM_017010119.1:c.279C>T, XM_017010119.1:c.279C>A, XM_047417583.1:c.279C>T, XM_047417583.1:c.279C>A, XM_047417584.1:c.279C>T, XM_047417584.1:c.279C>A
                    16.

                    rs1462414737 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      5:766882 (GRCh38)
                      5:766997 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:766881:G:A,NC_000005.10:766881:G:T
                      Gene:
                      ZDHHC11B (Varview)
                      Functional Consequence:
                      missense_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.000048/1 (ALFA)
                      A=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000005.10:g.766882G>A, NC_000005.10:g.766882G>T, NC_000005.9:g.766997G>A, NC_000005.9:g.766997G>T, XM_017010114.3:c.38C>T, XM_017010114.3:c.38C>A, XM_017010114.2:c.38C>T, XM_017010114.2:c.38C>A, XM_017010114.1:c.38C>T, XM_017010114.1:c.38C>A, XM_017010113.3:c.38C>T, XM_017010113.3:c.38C>A, XM_017010113.2:c.38C>T, XM_017010113.2:c.38C>A, XM_017010113.1:c.38C>T, XM_017010113.1:c.38C>A, XM_017010115.3:c.38C>T, XM_017010115.3:c.38C>A, XM_017010115.2:c.38C>T, XM_017010115.2:c.38C>A, XM_017010115.1:c.38C>T, XM_017010115.1:c.38C>A, XM_017010116.3:c.38C>T, XM_017010116.3:c.38C>A, XM_017010116.2:c.38C>T, XM_017010116.2:c.38C>A, XM_017010116.1:c.38C>T, XM_017010116.1:c.38C>A, XM_017010117.2:c.38C>T, XM_017010117.2:c.38C>A, XM_017010117.1:c.38C>T, XM_017010117.1:c.38C>A, XM_017010112.2:c.38C>T, XM_017010112.2:c.38C>A, XM_017010112.1:c.38C>T, XM_017010112.1:c.38C>A, NR_147095.2:n.503C>T, NR_147095.2:n.503C>A, NR_147095.1:n.529C>T, NR_147095.1:n.529C>A, XM_017010110.2:c.38C>T, XM_017010110.2:c.38C>A, XM_017010110.1:c.38C>T, XM_017010110.1:c.38C>A, XM_017010111.2:c.38C>T, XM_017010111.2:c.38C>A, XM_017010111.1:c.38C>T, XM_017010111.1:c.38C>A, NR_147096.2:n.329C>T, NR_147096.2:n.329C>A, NR_147096.1:n.355C>T, NR_147096.1:n.355C>A, NM_001351303.2:c.38C>T, NM_001351303.2:c.38C>A, NM_001351303.1:c.38C>T, NM_001351303.1:c.38C>A, XM_024446188.1:c.38C>T, XM_024446188.1:c.38C>A, XM_047417580.1:c.38C>T, XM_047417580.1:c.38C>A, XM_017010121.1:c.38C>T, XM_017010121.1:c.38C>A, XM_047417582.1:c.38C>T, XM_047417582.1:c.38C>A, XM_017010118.1:c.38C>T, XM_017010118.1:c.38C>A, XM_017010119.1:c.38C>T, XM_017010119.1:c.38C>A, XM_047417583.1:c.38C>T, XM_047417583.1:c.38C>A, XM_047417584.1:c.38C>T, XM_047417584.1:c.38C>A, XP_016865603.1:p.Pro13Leu, XP_016865603.1:p.Pro13Gln, XP_016865602.1:p.Pro13Leu, XP_016865602.1:p.Pro13Gln, XP_016865604.1:p.Pro13Leu, XP_016865604.1:p.Pro13Gln, XP_016865605.1:p.Pro13Leu, XP_016865605.1:p.Pro13Gln, XP_016865606.1:p.Pro13Leu, XP_016865606.1:p.Pro13Gln, XP_016865601.1:p.Pro13Leu, XP_016865601.1:p.Pro13Gln, XP_016865599.1:p.Pro13Leu, XP_016865599.1:p.Pro13Gln, XP_016865600.1:p.Pro13Leu, XP_016865600.1:p.Pro13Gln, NP_001338232.1:p.Pro13Leu, NP_001338232.1:p.Pro13Gln, XP_024301956.1:p.Pro13Leu, XP_024301956.1:p.Pro13Gln, XP_047273536.1:p.Pro13Leu, XP_047273536.1:p.Pro13Gln, XP_016865610.1:p.Pro13Leu, XP_016865610.1:p.Pro13Gln, XP_047273538.1:p.Pro13Leu, XP_047273538.1:p.Pro13Gln, XP_016865607.1:p.Pro13Leu, XP_016865607.1:p.Pro13Gln, XP_016865608.1:p.Pro13Leu, XP_016865608.1:p.Pro13Gln, XP_047273539.1:p.Pro13Leu, XP_047273539.1:p.Pro13Gln, XP_047273540.1:p.Pro13Leu, XP_047273540.1:p.Pro13Gln
                      17.

                      rs1461977689 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        5:766699 (GRCh38)
                        5:766814 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:766698:A:G
                        Gene:
                        ZDHHC11B (Varview)
                        Functional Consequence:
                        missense_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0.000048/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000005.10:g.766699A>G, NC_000005.9:g.766814A>G, XM_017010114.3:c.221T>C, XM_017010114.2:c.221T>C, XM_017010114.1:c.221T>C, XM_017010113.3:c.221T>C, XM_017010113.2:c.221T>C, XM_017010113.1:c.221T>C, XM_017010115.3:c.221T>C, XM_017010115.2:c.221T>C, XM_017010115.1:c.221T>C, XM_017010116.3:c.221T>C, XM_017010116.2:c.221T>C, XM_017010116.1:c.221T>C, XM_017010117.2:c.221T>C, XM_017010117.1:c.221T>C, XM_017010112.2:c.221T>C, XM_017010112.1:c.221T>C, NR_147095.2:n.686T>C, NR_147095.1:n.712T>C, XM_017010110.2:c.221T>C, XM_017010110.1:c.221T>C, XM_017010111.2:c.221T>C, XM_017010111.1:c.221T>C, NR_147096.2:n.512T>C, NR_147096.1:n.538T>C, NM_001351303.2:c.221T>C, NM_001351303.1:c.221T>C, XM_024446188.1:c.221T>C, XM_047417580.1:c.221T>C, XM_017010121.1:c.221T>C, XM_047417582.1:c.221T>C, XM_017010118.1:c.221T>C, XM_017010119.1:c.221T>C, XM_047417583.1:c.221T>C, XM_047417584.1:c.221T>C, XP_016865603.1:p.Val74Ala, XP_016865602.1:p.Val74Ala, XP_016865604.1:p.Val74Ala, XP_016865605.1:p.Val74Ala, XP_016865606.1:p.Val74Ala, XP_016865601.1:p.Val74Ala, XP_016865599.1:p.Val74Ala, XP_016865600.1:p.Val74Ala, NP_001338232.1:p.Val74Ala, XP_024301956.1:p.Val74Ala, XP_047273536.1:p.Val74Ala, XP_016865610.1:p.Val74Ala, XP_047273538.1:p.Val74Ala, XP_016865607.1:p.Val74Ala, XP_016865608.1:p.Val74Ala, XP_047273539.1:p.Val74Ala, XP_047273540.1:p.Val74Ala
                        19.

                        rs1456717158 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          5:756060 (GRCh38)
                          5:756175 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:756059:T:C
                          Gene:
                          ZDHHC11B (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          NC_000005.10:g.756060T>C, NC_000005.9:g.756175T>C, XM_017010114.3:c.307A>G, XM_017010114.2:c.307A>G, XM_017010114.1:c.307A>G, XM_017010113.3:c.307A>G, XM_017010113.2:c.307A>G, XM_017010113.1:c.307A>G, XM_017010115.3:c.307A>G, XM_017010115.2:c.307A>G, XM_017010115.1:c.307A>G, XM_017010116.3:c.307A>G, XM_017010116.2:c.307A>G, XM_017010116.1:c.307A>G, XM_017010117.2:c.307A>G, XM_017010117.1:c.307A>G, XM_017010112.2:c.307A>G, XM_017010112.1:c.307A>G, XM_017010110.2:c.307A>G, XM_017010110.1:c.307A>G, XM_017010111.2:c.307A>G, XM_017010111.1:c.307A>G, NM_001351303.2:c.307A>G, NM_001351303.1:c.307A>G, XM_024446188.1:c.307A>G, XM_047417580.1:c.307A>G, XM_017010121.1:c.307A>G, XM_047417582.1:c.307A>G, XM_017010118.1:c.307A>G, XM_017010119.1:c.307A>G, XM_047417583.1:c.307A>G, XM_047417584.1:c.307A>G, XP_016865603.1:p.Met103Val, XP_016865602.1:p.Met103Val, XP_016865604.1:p.Met103Val, XP_016865605.1:p.Met103Val, XP_016865606.1:p.Met103Val, XP_016865601.1:p.Met103Val, XP_016865599.1:p.Met103Val, XP_016865600.1:p.Met103Val, NP_001338232.1:p.Met103Val, XP_024301956.1:p.Met103Val, XP_047273536.1:p.Met103Val, XP_016865610.1:p.Met103Val, XP_047273538.1:p.Met103Val, XP_016865607.1:p.Met103Val, XP_016865608.1:p.Met103Val, XP_047273539.1:p.Met103Val, XP_047273540.1:p.Met103Val
                          20.

                          rs1451650836 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            5:766756 (GRCh38)
                            5:766871 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:766755:G:A
                            Gene:
                            ZDHHC11B (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000005.10:g.766756G>A, NC_000005.9:g.766871G>A, XM_017010114.3:c.164C>T, XM_017010114.2:c.164C>T, XM_017010114.1:c.164C>T, XM_017010113.3:c.164C>T, XM_017010113.2:c.164C>T, XM_017010113.1:c.164C>T, XM_017010115.3:c.164C>T, XM_017010115.2:c.164C>T, XM_017010115.1:c.164C>T, XM_017010116.3:c.164C>T, XM_017010116.2:c.164C>T, XM_017010116.1:c.164C>T, XM_017010117.2:c.164C>T, XM_017010117.1:c.164C>T, XM_017010112.2:c.164C>T, XM_017010112.1:c.164C>T, NR_147095.2:n.629C>T, NR_147095.1:n.655C>T, XM_017010110.2:c.164C>T, XM_017010110.1:c.164C>T, XM_017010111.2:c.164C>T, XM_017010111.1:c.164C>T, NR_147096.2:n.455C>T, NR_147096.1:n.481C>T, NM_001351303.2:c.164C>T, NM_001351303.1:c.164C>T, XM_024446188.1:c.164C>T, XM_047417580.1:c.164C>T, XM_017010121.1:c.164C>T, XM_047417582.1:c.164C>T, XM_017010118.1:c.164C>T, XM_017010119.1:c.164C>T, XM_047417583.1:c.164C>T, XM_047417584.1:c.164C>T, XP_016865603.1:p.Ala55Val, XP_016865602.1:p.Ala55Val, XP_016865604.1:p.Ala55Val, XP_016865605.1:p.Ala55Val, XP_016865606.1:p.Ala55Val, XP_016865601.1:p.Ala55Val, XP_016865599.1:p.Ala55Val, XP_016865600.1:p.Ala55Val, NP_001338232.1:p.Ala55Val, XP_024301956.1:p.Ala55Val, XP_047273536.1:p.Ala55Val, XP_016865610.1:p.Ala55Val, XP_047273538.1:p.Ala55Val, XP_016865607.1:p.Ala55Val, XP_016865608.1:p.Ala55Val, XP_047273539.1:p.Ala55Val, XP_047273540.1:p.Ala55Val

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