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Items: 1 to 20 of 3321

1.

rs1490481775 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    17:75619716 (GRCh38)
    17:73615796 (GRCh37)
    Canonical SPDI:
    NC_000017.11:75619715:G:A
    Gene:
    MYO15B (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000007/1 (GnomAD_exomes)
    A=0.000343/1 (KOREAN)
    A=0.000546/1 (Korea1K)
    A=0.000708/12 (TOMMO)
    G=0.5/1 (SGDP_PRJ)
    HGVS:
    NC_000017.11:g.75619716G>A, NC_000017.10:g.73615796G>A, XM_017025120.3:c.6564G>A, XM_017025120.2:c.6564G>A, XM_017025120.1:c.6564G>A, XM_017025121.3:c.6549G>A, XM_017025121.2:c.6549G>A, XM_017025121.1:c.6549G>A, XM_017025122.3:c.6528G>A, XM_017025122.2:c.6528G>A, XM_017025122.1:c.6528G>A, XM_017025123.3:c.6564G>A, XM_017025123.2:c.6564G>A, XM_017025123.1:c.6564G>A, XM_017025124.3:c.6438G>A, XM_017025124.2:c.6438G>A, XM_017025124.1:c.6438G>A, XM_017025125.3:c.6288G>A, XM_017025125.2:c.6288G>A, XM_017025125.1:c.6288G>A, XM_017025131.3:c.4836G>A, XM_017025131.2:c.4836G>A, XM_017025131.1:c.4836G>A, XM_017025127.3:c.5877G>A, XM_017025127.2:c.5877G>A, XM_017025127.1:c.5877G>A, XM_017025128.3:c.5850G>A, XM_017025128.2:c.5850G>A, XM_017025128.1:c.5850G>A, XM_017025129.3:c.5001G>A, XM_017025129.2:c.5001G>A, XM_017025129.1:c.5001G>A, XM_017025130.3:c.4941G>A, XM_017025130.2:c.4941G>A, XM_017025130.1:c.4941G>A, XM_017025136.3:c.3846G>A, XM_017025136.2:c.3846G>A, XM_017025136.1:c.3846G>A, XM_017025135.3:c.3846G>A, XM_017025135.2:c.3846G>A, XM_017025135.1:c.3846G>A, XM_017025137.3:c.3513G>A, XM_017025137.2:c.3513G>A, XM_017025137.1:c.3513G>A, XM_017025138.3:c.3078G>A, XM_017025138.2:c.3078G>A, XM_017025138.1:c.3078G>A, XM_017025140.3:c.2964G>A, XM_017025140.2:c.2964G>A, XM_017025140.1:c.2964G>A, XM_017025143.3:c.2172G>A, XM_017025143.2:c.2172G>A, XM_017025143.1:c.2172G>A, NM_001309242.2:c.7104G>A, NM_001309242.1:c.7104G>A, NR_003587.2:n.6967G>A, XM_024450952.2:c.2169G>A, XM_024450952.1:c.2169G>A, NM_001395058.1:c.7218G>A, XM_047436792.1:c.4611G>A, XM_047436790.1:c.4758G>A, XM_047436788.1:c.6564G>A, XM_047436789.1:c.6564G>A, XM_047436791.1:c.4689G>A, XM_047436793.1:c.4233G>A, XM_047436794.1:c.4119G>A, XM_047436797.1:c.2967G>A

    2.

    rs1490373801 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:75588154 (GRCh38)
      17:73584235 (GRCh37)
      Canonical SPDI:
      NC_000017.11:75588153:G:A
      Gene:
      MYO15B (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000014/2 (GnomAD)
      A=0.000015/4 (TOPMED)
      HGVS:
      NC_000017.11:g.75588154G>A, NC_000017.10:g.73584235G>A, XM_017025120.3:c.97G>A, XM_017025120.2:c.97G>A, XM_017025120.1:c.97G>A, XM_017025121.3:c.97G>A, XM_017025121.2:c.97G>A, XM_017025121.1:c.97G>A, XM_017025122.3:c.97G>A, XM_017025122.2:c.97G>A, XM_017025122.1:c.97G>A, XM_017025123.3:c.97G>A, XM_017025123.2:c.97G>A, XM_017025123.1:c.97G>A, XM_017025124.3:c.97G>A, XM_017025124.2:c.97G>A, XM_017025124.1:c.97G>A, XM_017025125.3:c.97G>A, XM_017025125.2:c.97G>A, XM_017025125.1:c.97G>A, XM_017025127.3:c.97G>A, XM_017025127.2:c.97G>A, XM_017025127.1:c.97G>A, XM_017025128.3:c.6G>A, XM_017025128.2:c.6G>A, XM_017025128.1:c.6G>A, NM_001309242.2:c.97G>A, NM_001309242.1:c.97G>A, NR_003587.2:n.97G>A, NM_001395058.1:c.97G>A, XM_047436788.1:c.97G>A, XM_047436789.1:c.97G>A, XM_047436795.1:c.97G>A, XM_047436796.1:c.97G>A, XM_047436798.1:c.97G>A, XP_016880609.1:p.Ala33Thr, XP_016880610.1:p.Ala33Thr, XP_016880611.1:p.Ala33Thr, XP_016880612.1:p.Ala33Thr, XP_016880613.1:p.Ala33Thr, XP_016880614.1:p.Ala33Thr, XP_016880616.1:p.Ala33Thr, NP_001296171.1:p.Ala33Thr, NP_001381987.1:p.Ala33Thr, XP_047292744.1:p.Ala33Thr, XP_047292745.1:p.Ala33Thr, XP_047292751.1:p.Ala33Thr, XP_047292752.1:p.Ala33Thr, XP_047292754.1:p.Ala33Thr

      3.

      rs1490221828 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        17:75588299 (GRCh38)
        17:73584380 (GRCh37)
        Canonical SPDI:
        NC_000017.11:75588298:G:A,NC_000017.11:75588298:G:C
        Gene:
        MYO15B (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.000008/2 (TOPMED)
        HGVS:
        NC_000017.11:g.75588299G>A, NC_000017.11:g.75588299G>C, NC_000017.10:g.73584380G>A, NC_000017.10:g.73584380G>C, XM_017025120.3:c.242G>A, XM_017025120.3:c.242G>C, XM_017025120.2:c.242G>A, XM_017025120.2:c.242G>C, XM_017025120.1:c.242G>A, XM_017025120.1:c.242G>C, XM_017025121.3:c.242G>A, XM_017025121.3:c.242G>C, XM_017025121.2:c.242G>A, XM_017025121.2:c.242G>C, XM_017025121.1:c.242G>A, XM_017025121.1:c.242G>C, XM_017025122.3:c.242G>A, XM_017025122.3:c.242G>C, XM_017025122.2:c.242G>A, XM_017025122.2:c.242G>C, XM_017025122.1:c.242G>A, XM_017025122.1:c.242G>C, XM_017025123.3:c.242G>A, XM_017025123.3:c.242G>C, XM_017025123.2:c.242G>A, XM_017025123.2:c.242G>C, XM_017025123.1:c.242G>A, XM_017025123.1:c.242G>C, XM_017025124.3:c.242G>A, XM_017025124.3:c.242G>C, XM_017025124.2:c.242G>A, XM_017025124.2:c.242G>C, XM_017025124.1:c.242G>A, XM_017025124.1:c.242G>C, XM_017025125.3:c.242G>A, XM_017025125.3:c.242G>C, XM_017025125.2:c.242G>A, XM_017025125.2:c.242G>C, XM_017025125.1:c.242G>A, XM_017025125.1:c.242G>C, XM_017025127.3:c.242G>A, XM_017025127.3:c.242G>C, XM_017025127.2:c.242G>A, XM_017025127.2:c.242G>C, XM_017025127.1:c.242G>A, XM_017025127.1:c.242G>C, XM_017025128.3:c.151G>A, XM_017025128.3:c.151G>C, XM_017025128.2:c.151G>A, XM_017025128.2:c.151G>C, XM_017025128.1:c.151G>A, XM_017025128.1:c.151G>C, NM_001309242.2:c.242G>A, NM_001309242.2:c.242G>C, NM_001309242.1:c.242G>A, NM_001309242.1:c.242G>C, NR_003587.2:n.242G>A, NR_003587.2:n.242G>C, NM_001395058.1:c.242G>A, NM_001395058.1:c.242G>C, XM_047436788.1:c.242G>A, XM_047436788.1:c.242G>C, XM_047436789.1:c.242G>A, XM_047436789.1:c.242G>C, XM_047436795.1:c.242G>A, XM_047436795.1:c.242G>C, XM_047436796.1:c.242G>A, XM_047436796.1:c.242G>C, XM_047436798.1:c.242G>A, XM_047436798.1:c.242G>C, XP_016880609.1:p.Gly81Glu, XP_016880609.1:p.Gly81Ala, XP_016880610.1:p.Gly81Glu, XP_016880610.1:p.Gly81Ala, XP_016880611.1:p.Gly81Glu, XP_016880611.1:p.Gly81Ala, XP_016880612.1:p.Gly81Glu, XP_016880612.1:p.Gly81Ala, XP_016880613.1:p.Gly81Glu, XP_016880613.1:p.Gly81Ala, XP_016880614.1:p.Gly81Glu, XP_016880614.1:p.Gly81Ala, XP_016880616.1:p.Gly81Glu, XP_016880616.1:p.Gly81Ala, XP_016880617.1:p.Gly51Arg, XP_016880617.1:p.Gly51Arg, NP_001296171.1:p.Gly81Glu, NP_001296171.1:p.Gly81Ala, NP_001381987.1:p.Gly81Glu, NP_001381987.1:p.Gly81Ala, XP_047292744.1:p.Gly81Glu, XP_047292744.1:p.Gly81Ala, XP_047292745.1:p.Gly81Glu, XP_047292745.1:p.Gly81Ala, XP_047292751.1:p.Gly81Glu, XP_047292751.1:p.Gly81Ala, XP_047292752.1:p.Gly81Glu, XP_047292752.1:p.Gly81Ala, XP_047292754.1:p.Gly81Glu, XP_047292754.1:p.Gly81Ala

        4.

        rs1489106281 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:75589450 (GRCh38)
          17:73585531 (GRCh37)
          Canonical SPDI:
          NC_000017.11:75589449:G:A
          Gene:
          MYO15B (Varview)
          Functional Consequence:
          coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000073/10 (GnomAD)
          HGVS:

          5.

          rs1488943173 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            17:75588456 (GRCh38)
            17:73584537 (GRCh37)
            Canonical SPDI:
            NC_000017.11:75588455:G:A
            Gene:
            MYO15B (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000008/2 (TOPMED)
            A=0.000029/4 (GnomAD)
            HGVS:
            NC_000017.11:g.75588456G>A, NC_000017.10:g.73584537G>A, XM_017025120.3:c.399G>A, XM_017025120.2:c.399G>A, XM_017025120.1:c.399G>A, XM_017025121.3:c.399G>A, XM_017025121.2:c.399G>A, XM_017025121.1:c.399G>A, XM_017025122.3:c.399G>A, XM_017025122.2:c.399G>A, XM_017025122.1:c.399G>A, XM_017025123.3:c.399G>A, XM_017025123.2:c.399G>A, XM_017025123.1:c.399G>A, XM_017025124.3:c.399G>A, XM_017025124.2:c.399G>A, XM_017025124.1:c.399G>A, XM_017025125.3:c.399G>A, XM_017025125.2:c.399G>A, XM_017025125.1:c.399G>A, XM_017025127.3:c.399G>A, XM_017025127.2:c.399G>A, XM_017025127.1:c.399G>A, XM_017025128.3:c.308G>A, XM_017025128.2:c.308G>A, XM_017025128.1:c.308G>A, NM_001309242.2:c.399G>A, NM_001309242.1:c.399G>A, NR_003587.2:n.399G>A, NM_001395058.1:c.399G>A, XM_047436788.1:c.399G>A, XM_047436789.1:c.399G>A, XM_047436795.1:c.399G>A, XM_047436796.1:c.399G>A, XM_047436798.1:c.399G>A, XP_016880617.1:p.Gly103Asp

            6.

            rs1488407138 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              17:75588211 (GRCh38)
              17:73584292 (GRCh37)
              Canonical SPDI:
              NC_000017.11:75588210:G:A
              Gene:
              MYO15B (Varview)
              Functional Consequence:
              coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,upstream_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_000017.11:g.75588211G>A, NC_000017.10:g.73584292G>A, XM_017025120.3:c.154G>A, XM_017025120.2:c.154G>A, XM_017025120.1:c.154G>A, XM_017025121.3:c.154G>A, XM_017025121.2:c.154G>A, XM_017025121.1:c.154G>A, XM_017025122.3:c.154G>A, XM_017025122.2:c.154G>A, XM_017025122.1:c.154G>A, XM_017025123.3:c.154G>A, XM_017025123.2:c.154G>A, XM_017025123.1:c.154G>A, XM_017025124.3:c.154G>A, XM_017025124.2:c.154G>A, XM_017025124.1:c.154G>A, XM_017025125.3:c.154G>A, XM_017025125.2:c.154G>A, XM_017025125.1:c.154G>A, XM_017025127.3:c.154G>A, XM_017025127.2:c.154G>A, XM_017025127.1:c.154G>A, XM_017025128.3:c.63G>A, XM_017025128.2:c.63G>A, XM_017025128.1:c.63G>A, NM_001309242.2:c.154G>A, NM_001309242.1:c.154G>A, NR_003587.2:n.154G>A, NM_001395058.1:c.154G>A, XM_047436788.1:c.154G>A, XM_047436789.1:c.154G>A, XM_047436795.1:c.154G>A, XM_047436796.1:c.154G>A, XM_047436798.1:c.154G>A, XP_016880609.1:p.Ala52Thr, XP_016880610.1:p.Ala52Thr, XP_016880611.1:p.Ala52Thr, XP_016880612.1:p.Ala52Thr, XP_016880613.1:p.Ala52Thr, XP_016880614.1:p.Ala52Thr, XP_016880616.1:p.Ala52Thr, NP_001296171.1:p.Ala52Thr, NP_001381987.1:p.Ala52Thr, XP_047292744.1:p.Ala52Thr, XP_047292745.1:p.Ala52Thr, XP_047292751.1:p.Ala52Thr, XP_047292752.1:p.Ala52Thr, XP_047292754.1:p.Ala52Thr

              7.

              rs1488038228 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:75619186 (GRCh38)
                17:73615266 (GRCh37)
                Canonical SPDI:
                NC_000017.11:75619185:A:G
                Gene:
                MYO15B (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0./0 (ALFA)
                HGVS:
                NC_000017.11:g.75619186A>G, NC_000017.10:g.73615266A>G, XM_017025120.3:c.6377A>G, XM_017025120.2:c.6377A>G, XM_017025120.1:c.6377A>G, XM_017025121.3:c.6362A>G, XM_017025121.2:c.6362A>G, XM_017025121.1:c.6362A>G, XM_017025122.3:c.6341A>G, XM_017025122.2:c.6341A>G, XM_017025122.1:c.6341A>G, XM_017025123.3:c.6377A>G, XM_017025123.2:c.6377A>G, XM_017025123.1:c.6377A>G, XM_017025124.3:c.6251A>G, XM_017025124.2:c.6251A>G, XM_017025124.1:c.6251A>G, XM_017025125.3:c.6101A>G, XM_017025125.2:c.6101A>G, XM_017025125.1:c.6101A>G, XM_017025131.3:c.4649A>G, XM_017025131.2:c.4649A>G, XM_017025131.1:c.4649A>G, XM_017025127.3:c.5690A>G, XM_017025127.2:c.5690A>G, XM_017025127.1:c.5690A>G, XM_017025128.3:c.5663A>G, XM_017025128.2:c.5663A>G, XM_017025128.1:c.5663A>G, XM_017025129.3:c.4814A>G, XM_017025129.2:c.4814A>G, XM_017025129.1:c.4814A>G, XM_017025130.3:c.4754A>G, XM_017025130.2:c.4754A>G, XM_017025130.1:c.4754A>G, XM_017025136.3:c.3659A>G, XM_017025136.2:c.3659A>G, XM_017025136.1:c.3659A>G, XM_017025135.3:c.3659A>G, XM_017025135.2:c.3659A>G, XM_017025135.1:c.3659A>G, XM_017025137.3:c.3326A>G, XM_017025137.2:c.3326A>G, XM_017025137.1:c.3326A>G, XM_017025138.3:c.2891A>G, XM_017025138.2:c.2891A>G, XM_017025138.1:c.2891A>G, XM_017025140.3:c.2777A>G, XM_017025140.2:c.2777A>G, XM_017025140.1:c.2777A>G, XM_017025143.3:c.1985A>G, XM_017025143.2:c.1985A>G, XM_017025143.1:c.1985A>G, NM_001309242.2:c.6917A>G, NM_001309242.1:c.6917A>G, NR_003587.2:n.6780A>G, XM_024450952.2:c.1982A>G, XM_024450952.1:c.1982A>G, NM_001395058.1:c.7031A>G, XM_047436792.1:c.4424A>G, XM_047436790.1:c.4571A>G, XM_047436788.1:c.6377A>G, XM_047436789.1:c.6377A>G, XM_047436791.1:c.4502A>G, XM_047436793.1:c.4046A>G, XM_047436794.1:c.3932A>G, XM_047436797.1:c.2780A>G, XP_016880609.1:p.Gln2126Arg, XP_016880610.1:p.Gln2121Arg, XP_016880611.1:p.Gln2114Arg, XP_016880612.1:p.Gln2126Arg, XP_016880613.1:p.Gln2084Arg, XP_016880614.1:p.Gln2034Arg, XP_016880620.1:p.Gln1550Arg, XP_016880616.1:p.Gln1897Arg, XP_016880617.1:p.Gln1888Arg, XP_016880618.1:p.Gln1605Arg, XP_016880619.1:p.Gln1585Arg, XP_016880625.1:p.Gln1220Arg, XP_016880624.1:p.Gln1220Arg, XP_016880626.1:p.Gln1109Arg, XP_016880627.1:p.Gln964Arg, XP_016880629.1:p.Gln926Arg, XP_016880632.1:p.Gln662Arg, NP_001296171.1:p.Gln2306Arg, XP_024306720.1:p.Gln661Arg, NP_001381987.1:p.Gln2344Arg, XP_047292748.1:p.Gln1475Arg, XP_047292746.1:p.Gln1524Arg, XP_047292744.1:p.Gln2126Arg, XP_047292745.1:p.Gln2126Arg, XP_047292747.1:p.Gln1501Arg, XP_047292749.1:p.Gln1349Arg, XP_047292750.1:p.Gln1311Arg, XP_047292753.1:p.Gln927Arg

                8.

                rs1487927954 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:75617887 (GRCh38)
                  17:73613967 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:75617886:A:G
                  Gene:
                  MYO15B (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000017.11:g.75617887A>G, NC_000017.10:g.73613967A>G, XM_017025120.3:c.6238A>G, XM_017025120.2:c.6238A>G, XM_017025120.1:c.6238A>G, XM_017025121.3:c.6223A>G, XM_017025121.2:c.6223A>G, XM_017025121.1:c.6223A>G, XM_017025122.3:c.6202A>G, XM_017025122.2:c.6202A>G, XM_017025122.1:c.6202A>G, XM_017025123.3:c.6238A>G, XM_017025123.2:c.6238A>G, XM_017025123.1:c.6238A>G, XM_017025124.3:c.6112A>G, XM_017025124.2:c.6112A>G, XM_017025124.1:c.6112A>G, XM_017025125.3:c.5962A>G, XM_017025125.2:c.5962A>G, XM_017025125.1:c.5962A>G, XM_017025131.3:c.4510A>G, XM_017025131.2:c.4510A>G, XM_017025131.1:c.4510A>G, XM_017025127.3:c.5551A>G, XM_017025127.2:c.5551A>G, XM_017025127.1:c.5551A>G, XM_017025128.3:c.5524A>G, XM_017025128.2:c.5524A>G, XM_017025128.1:c.5524A>G, XM_017025129.3:c.4675A>G, XM_017025129.2:c.4675A>G, XM_017025129.1:c.4675A>G, XM_017025130.3:c.4615A>G, XM_017025130.2:c.4615A>G, XM_017025130.1:c.4615A>G, XM_017025136.3:c.3520A>G, XM_017025136.2:c.3520A>G, XM_017025136.1:c.3520A>G, XM_017025135.3:c.3520A>G, XM_017025135.2:c.3520A>G, XM_017025135.1:c.3520A>G, XM_017025137.3:c.3187A>G, XM_017025137.2:c.3187A>G, XM_017025137.1:c.3187A>G, XM_017025138.3:c.2752A>G, XM_017025138.2:c.2752A>G, XM_017025138.1:c.2752A>G, XM_017025140.3:c.2638A>G, XM_017025140.2:c.2638A>G, XM_017025140.1:c.2638A>G, XM_017025143.3:c.1846A>G, XM_017025143.2:c.1846A>G, XM_017025143.1:c.1846A>G, NM_001309242.2:c.6778A>G, NM_001309242.1:c.6778A>G, NR_003587.2:n.6641A>G, XM_024450952.2:c.1843A>G, XM_024450952.1:c.1843A>G, NM_001395058.1:c.6892A>G, XM_047436792.1:c.4285A>G, XM_047436790.1:c.4432A>G, XM_047436788.1:c.6238A>G, XM_047436789.1:c.6238A>G, XM_047436791.1:c.4363A>G, XM_047436793.1:c.3907A>G, XM_047436794.1:c.3793A>G, XM_047436797.1:c.2641A>G, XP_016880609.1:p.Thr2080Ala, XP_016880610.1:p.Thr2075Ala, XP_016880611.1:p.Thr2068Ala, XP_016880612.1:p.Thr2080Ala, XP_016880613.1:p.Thr2038Ala, XP_016880614.1:p.Thr1988Ala, XP_016880620.1:p.Thr1504Ala, XP_016880616.1:p.Thr1851Ala, XP_016880617.1:p.Thr1842Ala, XP_016880618.1:p.Thr1559Ala, XP_016880619.1:p.Thr1539Ala, XP_016880625.1:p.Thr1174Ala, XP_016880624.1:p.Thr1174Ala, XP_016880626.1:p.Thr1063Ala, XP_016880627.1:p.Thr918Ala, XP_016880629.1:p.Thr880Ala, XP_016880632.1:p.Thr616Ala, NP_001296171.1:p.Thr2260Ala, XP_024306720.1:p.Thr615Ala, NP_001381987.1:p.Thr2298Ala, XP_047292748.1:p.Thr1429Ala, XP_047292746.1:p.Thr1478Ala, XP_047292744.1:p.Thr2080Ala, XP_047292745.1:p.Thr2080Ala, XP_047292747.1:p.Thr1455Ala, XP_047292749.1:p.Thr1303Ala, XP_047292750.1:p.Thr1265Ala, XP_047292753.1:p.Thr881Ala

                  9.

                  rs1487736342 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:75613464 (GRCh38)
                    17:73609545 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:75613463:C:T
                    Gene:
                    MYO15B (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000071/1 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000017.11:g.75613464C>T, NC_000017.10:g.73609545C>T, XM_017025120.3:c.4485C>T, XM_017025120.2:c.4485C>T, XM_017025120.1:c.4485C>T, XM_017025121.3:c.4470C>T, XM_017025121.2:c.4470C>T, XM_017025121.1:c.4470C>T, XM_017025122.3:c.4449C>T, XM_017025122.2:c.4449C>T, XM_017025122.1:c.4449C>T, XM_017025123.3:c.4485C>T, XM_017025123.2:c.4485C>T, XM_017025123.1:c.4485C>T, XM_017025124.3:c.4359C>T, XM_017025124.2:c.4359C>T, XM_017025124.1:c.4359C>T, XM_017025125.3:c.4209C>T, XM_017025125.2:c.4209C>T, XM_017025125.1:c.4209C>T, XM_017025131.3:c.2757C>T, XM_017025131.2:c.2757C>T, XM_017025131.1:c.2757C>T, XM_017025127.3:c.3798C>T, XM_017025127.2:c.3798C>T, XM_017025127.1:c.3798C>T, XM_017025128.3:c.3771C>T, XM_017025128.2:c.3771C>T, XM_017025128.1:c.3771C>T, XM_017025129.3:c.2922C>T, XM_017025129.2:c.2922C>T, XM_017025129.1:c.2922C>T, XM_017025130.3:c.2862C>T, XM_017025130.2:c.2862C>T, XM_017025130.1:c.2862C>T, XM_017025136.3:c.1767C>T, XM_017025136.2:c.1767C>T, XM_017025136.1:c.1767C>T, XM_017025135.3:c.1767C>T, XM_017025135.2:c.1767C>T, XM_017025135.1:c.1767C>T, XM_017025137.3:c.1434C>T, XM_017025137.2:c.1434C>T, XM_017025137.1:c.1434C>T, XM_017025138.3:c.999C>T, XM_017025138.2:c.999C>T, XM_017025138.1:c.999C>T, XM_017025140.3:c.885C>T, XM_017025140.2:c.885C>T, XM_017025140.1:c.885C>T, XM_017025143.3:c.37C>T, XM_017025143.2:c.37C>T, XM_017025143.1:c.37C>T, NM_001309242.2:c.5025C>T, NM_001309242.1:c.5025C>T, NR_003587.2:n.4936C>T, XM_024450952.2:c.37C>T, XM_024450952.1:c.37C>T, NM_001395058.1:c.5139C>T, XM_047436792.1:c.2532C>T, XM_047436790.1:c.2679C>T, XM_047436788.1:c.4485C>T, XM_047436789.1:c.4485C>T, XM_047436791.1:c.2610C>T, XM_047436793.1:c.2154C>T, XM_047436794.1:c.2040C>T, XM_047436795.1:c.4485C>T, XM_047436796.1:c.4485C>T, XM_047436797.1:c.888C>T, XM_047436798.1:c.4485C>T, XP_016880632.1:p.Leu13Phe, XP_024306720.1:p.Leu13Phe

                    10.

                    rs1487451394 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      17:75625578 (GRCh38)
                      17:73621658 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:75625577:G:A,NC_000017.11:75625577:G:C,NC_000017.11:75625577:G:T
                      Gene:
                      MYO15B (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0./0 (GnomAD)
                      C=0.000015/2 (GnomAD_exomes)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000017.11:g.75625578G>A, NC_000017.11:g.75625578G>C, NC_000017.11:g.75625578G>T, NC_000017.10:g.73621658G>A, NC_000017.10:g.73621658G>C, NC_000017.10:g.73621658G>T, NG_029617.1:g.46612C>T, NG_029617.1:g.46612C>G, NG_029617.1:g.46612C>A, XM_017025120.3:c.8202G>A, XM_017025120.3:c.8202G>C, XM_017025120.3:c.8202G>T, XM_017025120.2:c.8202G>A, XM_017025120.2:c.8202G>C, XM_017025120.2:c.8202G>T, XM_017025120.1:c.8202G>A, XM_017025120.1:c.8202G>C, XM_017025120.1:c.8202G>T, XM_017025121.3:c.8187G>A, XM_017025121.3:c.8187G>C, XM_017025121.3:c.8187G>T, XM_017025121.2:c.8187G>A, XM_017025121.2:c.8187G>C, XM_017025121.2:c.8187G>T, XM_017025121.1:c.8187G>A, XM_017025121.1:c.8187G>C, XM_017025121.1:c.8187G>T, XM_017025122.3:c.8166G>A, XM_017025122.3:c.8166G>C, XM_017025122.3:c.8166G>T, XM_017025122.2:c.8166G>A, XM_017025122.2:c.8166G>C, XM_017025122.2:c.8166G>T, XM_017025122.1:c.8166G>A, XM_017025122.1:c.8166G>C, XM_017025122.1:c.8166G>T, XM_017025123.3:c.8136G>A, XM_017025123.3:c.8136G>C, XM_017025123.3:c.8136G>T, XM_017025123.2:c.8136G>A, XM_017025123.2:c.8136G>C, XM_017025123.2:c.8136G>T, XM_017025123.1:c.8136G>A, XM_017025123.1:c.8136G>C, XM_017025123.1:c.8136G>T, XM_017025124.3:c.8076G>A, XM_017025124.3:c.8076G>C, XM_017025124.3:c.8076G>T, XM_017025124.2:c.8076G>A, XM_017025124.2:c.8076G>C, XM_017025124.2:c.8076G>T, XM_017025124.1:c.8076G>A, XM_017025124.1:c.8076G>C, XM_017025124.1:c.8076G>T, XM_017025125.3:c.7926G>A, XM_017025125.3:c.7926G>C, XM_017025125.3:c.7926G>T, XM_017025125.2:c.7926G>A, XM_017025125.2:c.7926G>C, XM_017025125.2:c.7926G>T, XM_017025125.1:c.7926G>A, XM_017025125.1:c.7926G>C, XM_017025125.1:c.7926G>T, XM_017025131.3:c.6474G>A, XM_017025131.3:c.6474G>C, XM_017025131.3:c.6474G>T, XM_017025131.2:c.6474G>A, XM_017025131.2:c.6474G>C, XM_017025131.2:c.6474G>T, XM_017025131.1:c.6474G>A, XM_017025131.1:c.6474G>C, XM_017025131.1:c.6474G>T, XM_017025127.3:c.7515G>A, XM_017025127.3:c.7515G>C, XM_017025127.3:c.7515G>T, XM_017025127.2:c.7515G>A, XM_017025127.2:c.7515G>C, XM_017025127.2:c.7515G>T, XM_017025127.1:c.7515G>A, XM_017025127.1:c.7515G>C, XM_017025127.1:c.7515G>T, XM_017025128.3:c.7488G>A, XM_017025128.3:c.7488G>C, XM_017025128.3:c.7488G>T, XM_017025128.2:c.7488G>A, XM_017025128.2:c.7488G>C, XM_017025128.2:c.7488G>T, XM_017025128.1:c.7488G>A, XM_017025128.1:c.7488G>C, XM_017025128.1:c.7488G>T, XM_017025129.3:c.6639G>A, XM_017025129.3:c.6639G>C, XM_017025129.3:c.6639G>T, XM_017025129.2:c.6639G>A, XM_017025129.2:c.6639G>C, XM_017025129.2:c.6639G>T, XM_017025129.1:c.6639G>A, XM_017025129.1:c.6639G>C, XM_017025129.1:c.6639G>T, XM_017025130.3:c.6579G>A, XM_017025130.3:c.6579G>C, XM_017025130.3:c.6579G>T, XM_017025130.2:c.6579G>A, XM_017025130.2:c.6579G>C, XM_017025130.2:c.6579G>T, XM_017025130.1:c.6579G>A, XM_017025130.1:c.6579G>C, XM_017025130.1:c.6579G>T, XM_017025136.3:c.5484G>A, XM_017025136.3:c.5484G>C, XM_017025136.3:c.5484G>T, XM_017025136.2:c.5484G>A, XM_017025136.2:c.5484G>C, XM_017025136.2:c.5484G>T, XM_017025136.1:c.5484G>A, XM_017025136.1:c.5484G>C, XM_017025136.1:c.5484G>T, XM_017025135.3:c.5484G>A, XM_017025135.3:c.5484G>C, XM_017025135.3:c.5484G>T, XM_017025135.2:c.5484G>A, XM_017025135.2:c.5484G>C, XM_017025135.2:c.5484G>T, XM_017025135.1:c.5484G>A, XM_017025135.1:c.5484G>C, XM_017025135.1:c.5484G>T, XM_017025137.3:c.5151G>A, XM_017025137.3:c.5151G>C, XM_017025137.3:c.5151G>T, XM_017025137.2:c.5151G>A, XM_017025137.2:c.5151G>C, XM_017025137.2:c.5151G>T, XM_017025137.1:c.5151G>A, XM_017025137.1:c.5151G>C, XM_017025137.1:c.5151G>T, XM_017025138.3:c.4716G>A, XM_017025138.3:c.4716G>C, XM_017025138.3:c.4716G>T, XM_017025138.2:c.4716G>A, XM_017025138.2:c.4716G>C, XM_017025138.2:c.4716G>T, XM_017025138.1:c.4716G>A, XM_017025138.1:c.4716G>C, XM_017025138.1:c.4716G>T, XM_017025140.3:c.4602G>A, XM_017025140.3:c.4602G>C, XM_017025140.3:c.4602G>T, XM_017025140.2:c.4602G>A, XM_017025140.2:c.4602G>C, XM_017025140.2:c.4602G>T, XM_017025140.1:c.4602G>A, XM_017025140.1:c.4602G>C, XM_017025140.1:c.4602G>T, XM_017025143.3:c.3810G>A, XM_017025143.3:c.3810G>C, XM_017025143.3:c.3810G>T, XM_017025143.2:c.3810G>A, XM_017025143.2:c.3810G>C, XM_017025143.2:c.3810G>T, XM_017025143.1:c.3810G>A, XM_017025143.1:c.3810G>C, XM_017025143.1:c.3810G>T, NM_001309242.2:c.8742G>A, NM_001309242.2:c.8742G>C, NM_001309242.2:c.8742G>T, NM_001309242.1:c.8742G>A, NM_001309242.1:c.8742G>C, NM_001309242.1:c.8742G>T, NR_003587.2:n.8530G>A, NR_003587.2:n.8530G>C, NR_003587.2:n.8530G>T, XM_024450952.2:c.3807G>A, XM_024450952.2:c.3807G>C, XM_024450952.2:c.3807G>T, XM_024450952.1:c.3807G>A, XM_024450952.1:c.3807G>C, XM_024450952.1:c.3807G>T, NM_001395058.1:c.8856G>A, NM_001395058.1:c.8856G>C, NM_001395058.1:c.8856G>T, XM_047436792.1:c.6249G>A, XM_047436792.1:c.6249G>C, XM_047436792.1:c.6249G>T, XM_047436790.1:c.6396G>A, XM_047436790.1:c.6396G>C, XM_047436790.1:c.6396G>T, XM_047436788.1:c.*38G>A, XM_047436788.1:c.*38G>C, XM_047436788.1:c.*38G>T, XM_047436791.1:c.6327G>A, XM_047436791.1:c.6327G>C, XM_047436791.1:c.6327G>T, XM_047436793.1:c.5871G>A, XM_047436793.1:c.5871G>C, XM_047436793.1:c.5871G>T, XM_047436794.1:c.5757G>A, XM_047436794.1:c.5757G>C, XM_047436794.1:c.5757G>T, XM_047436797.1:c.4605G>A, XM_047436797.1:c.4605G>C, XM_047436797.1:c.4605G>T, NM_024957.1:c.1029G>A, NM_024957.1:c.1029G>C, NM_024957.1:c.1029G>T

                      11.

                      rs1487289033 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        17:75621069 (GRCh38)
                        17:73617149 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:75621068:C:G
                        Gene:
                        MYO15B (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000007/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.75621069C>G, NC_000017.10:g.73617149C>G, XM_017025120.3:c.7110C>G, XM_017025120.2:c.7110C>G, XM_017025120.1:c.7110C>G, XM_017025121.3:c.7095C>G, XM_017025121.2:c.7095C>G, XM_017025121.1:c.7095C>G, XM_017025122.3:c.7074C>G, XM_017025122.2:c.7074C>G, XM_017025122.1:c.7074C>G, XM_017025123.3:c.7110C>G, XM_017025123.2:c.7110C>G, XM_017025123.1:c.7110C>G, XM_017025124.3:c.6984C>G, XM_017025124.2:c.6984C>G, XM_017025124.1:c.6984C>G, XM_017025125.3:c.6834C>G, XM_017025125.2:c.6834C>G, XM_017025125.1:c.6834C>G, XM_017025131.3:c.5382C>G, XM_017025131.2:c.5382C>G, XM_017025131.1:c.5382C>G, XM_017025127.3:c.6423C>G, XM_017025127.2:c.6423C>G, XM_017025127.1:c.6423C>G, XM_017025128.3:c.6396C>G, XM_017025128.2:c.6396C>G, XM_017025128.1:c.6396C>G, XM_017025129.3:c.5547C>G, XM_017025129.2:c.5547C>G, XM_017025129.1:c.5547C>G, XM_017025130.3:c.5487C>G, XM_017025130.2:c.5487C>G, XM_017025130.1:c.5487C>G, XM_017025136.3:c.4392C>G, XM_017025136.2:c.4392C>G, XM_017025136.1:c.4392C>G, XM_017025135.3:c.4392C>G, XM_017025135.2:c.4392C>G, XM_017025135.1:c.4392C>G, XM_017025137.3:c.4059C>G, XM_017025137.2:c.4059C>G, XM_017025137.1:c.4059C>G, XM_017025138.3:c.3624C>G, XM_017025138.2:c.3624C>G, XM_017025138.1:c.3624C>G, XM_017025140.3:c.3510C>G, XM_017025140.2:c.3510C>G, XM_017025140.1:c.3510C>G, XM_017025143.3:c.2718C>G, XM_017025143.2:c.2718C>G, XM_017025143.1:c.2718C>G, NM_001309242.2:c.7650C>G, NM_001309242.1:c.7650C>G, NR_003587.2:n.7516C>G, XM_024450952.2:c.2715C>G, XM_024450952.1:c.2715C>G, NM_001395058.1:c.7764C>G, XM_047436792.1:c.5157C>G, XM_047436790.1:c.5304C>G, XM_047436788.1:c.7110C>G, XM_047436789.1:c.7110C>G, XM_047436791.1:c.5235C>G, XM_047436793.1:c.4779C>G, XM_047436794.1:c.4665C>G, XM_047436797.1:c.3513C>G, XP_016880609.1:p.Asp2370Glu, XP_016880610.1:p.Asp2365Glu, XP_016880611.1:p.Asp2358Glu, XP_016880612.1:p.Asp2370Glu, XP_016880613.1:p.Asp2328Glu, XP_016880614.1:p.Asp2278Glu, XP_016880620.1:p.Asp1794Glu, XP_016880616.1:p.Asp2141Glu, XP_016880617.1:p.Asp2132Glu, XP_016880618.1:p.Asp1849Glu, XP_016880619.1:p.Asp1829Glu, XP_016880625.1:p.Asp1464Glu, XP_016880624.1:p.Asp1464Glu, XP_016880626.1:p.Asp1353Glu, XP_016880627.1:p.Asp1208Glu, XP_016880629.1:p.Asp1170Glu, XP_016880632.1:p.Asp906Glu, NP_001296171.1:p.Asp2550Glu, XP_024306720.1:p.Asp905Glu, NP_001381987.1:p.Asp2588Glu, XP_047292748.1:p.Asp1719Glu, XP_047292746.1:p.Asp1768Glu, XP_047292744.1:p.Asp2370Glu, XP_047292745.1:p.Asp2370Glu, XP_047292747.1:p.Asp1745Glu, XP_047292749.1:p.Asp1593Glu, XP_047292750.1:p.Asp1555Glu, XP_047292753.1:p.Asp1171Glu

                        12.

                        rs1487202672 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          17:75591711 (GRCh38)
                          17:73587792 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:75591710:A:G
                          Gene:
                          MYO15B (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.00007/1 (TOMMO)
                          HGVS:
                          NC_000017.11:g.75591711A>G, NC_000017.10:g.73587792A>G, XM_017025120.3:c.1892A>G, XM_017025120.2:c.1892A>G, XM_017025120.1:c.1892A>G, XM_017025121.3:c.1877A>G, XM_017025121.2:c.1877A>G, XM_017025121.1:c.1877A>G, XM_017025122.3:c.1892A>G, XM_017025122.2:c.1892A>G, XM_017025122.1:c.1892A>G, XM_017025123.3:c.1892A>G, XM_017025123.2:c.1892A>G, XM_017025123.1:c.1892A>G, XM_017025124.3:c.1892A>G, XM_017025124.2:c.1892A>G, XM_017025124.1:c.1892A>G, XM_017025125.3:c.1892A>G, XM_017025125.2:c.1892A>G, XM_017025125.1:c.1892A>G, XM_017025131.3:c.200A>G, XM_017025131.2:c.200A>G, XM_017025131.1:c.200A>G, XM_017025127.3:c.1205A>G, XM_017025127.2:c.1205A>G, XM_017025127.1:c.1205A>G, XM_017025128.3:c.1178A>G, XM_017025128.2:c.1178A>G, XM_017025128.1:c.1178A>G, XM_017025129.3:c.329A>G, XM_017025129.2:c.329A>G, XM_017025129.1:c.329A>G, XM_017025130.3:c.305A>G, XM_017025130.2:c.305A>G, XM_017025130.1:c.305A>G, NM_001309242.2:c.2546A>G, NM_001309242.1:c.2546A>G, NR_003587.2:n.2357A>G, NM_001395058.1:c.2546A>G, XM_047436792.1:c.53A>G, XM_047436790.1:c.200A>G, XM_047436788.1:c.1892A>G, XM_047436789.1:c.1892A>G, XM_047436791.1:c.53A>G, XM_047436795.1:c.1892A>G, XM_047436796.1:c.1892A>G, XM_047436798.1:c.1892A>G, NM_001080847.1:c.*1002A>G, XP_016880609.1:p.Gln631Arg, XP_016880610.1:p.Gln626Arg, XP_016880611.1:p.Gln631Arg, XP_016880612.1:p.Gln631Arg, XP_016880613.1:p.Gln631Arg, XP_016880614.1:p.Gln631Arg, XP_016880620.1:p.Gln67Arg, XP_016880616.1:p.Gln402Arg, XP_016880617.1:p.Gln393Arg, XP_016880618.1:p.Gln110Arg, XP_016880619.1:p.Gln102Arg, NP_001296171.1:p.Gln849Arg, NP_001381987.1:p.Gln849Arg, XP_047292748.1:p.Gln18Arg, XP_047292746.1:p.Gln67Arg, XP_047292744.1:p.Gln631Arg, XP_047292745.1:p.Gln631Arg, XP_047292747.1:p.Gln18Arg, XP_047292751.1:p.Gln631Arg, XP_047292752.1:p.Gln631Arg, XP_047292754.1:p.Gln631Arg

                          13.

                          rs1487185156 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:75590996 (GRCh38)
                            17:73587077 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:75590995:G:A
                            Gene:
                            MYO15B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            HGVS:
                            NC_000017.11:g.75590996G>A, NC_000017.10:g.73587077G>A, XM_017025120.3:c.1686G>A, XM_017025120.2:c.1686G>A, XM_017025120.1:c.1686G>A, XM_017025121.3:c.1686G>A, XM_017025121.2:c.1686G>A, XM_017025121.1:c.1686G>A, XM_017025122.3:c.1686G>A, XM_017025122.2:c.1686G>A, XM_017025122.1:c.1686G>A, XM_017025123.3:c.1686G>A, XM_017025123.2:c.1686G>A, XM_017025123.1:c.1686G>A, XM_017025124.3:c.1686G>A, XM_017025124.2:c.1686G>A, XM_017025124.1:c.1686G>A, XM_017025125.3:c.1686G>A, XM_017025125.2:c.1686G>A, XM_017025125.1:c.1686G>A, XM_017025131.3:c.-147G>A, XM_017025131.2:c.-147G>A, XM_017025131.1:c.-147G>A, XM_017025127.3:c.999G>A, XM_017025127.2:c.999G>A, XM_017025127.1:c.999G>A, XM_017025128.3:c.972G>A, XM_017025128.2:c.972G>A, XM_017025128.1:c.972G>A, XM_017025129.3:c.123G>A, XM_017025129.2:c.123G>A, XM_017025129.1:c.123G>A, XM_017025130.3:c.114G>A, XM_017025130.2:c.114G>A, XM_017025130.1:c.114G>A, NM_001309242.2:c.2340G>A, NM_001309242.1:c.2340G>A, NM_001395058.1:c.2340G>A, XM_047436792.1:c.-663G>A, XM_047436790.1:c.-147G>A, XM_047436788.1:c.1686G>A, XM_047436789.1:c.1686G>A, XM_047436795.1:c.1686G>A, XM_047436796.1:c.1686G>A, XM_047436798.1:c.1686G>A, NM_001080847.1:c.*656G>A

                            14.

                            rs1486812898 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              17:75624854 (GRCh38)
                              17:73620934 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:75624853:C:G
                              Gene:
                              MYO15B (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000007/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.75624854C>G, NC_000017.10:g.73620934C>G, NG_029617.1:g.47336G>C, XM_017025120.3:c.7972C>G, XM_017025120.2:c.7972C>G, XM_017025120.1:c.7972C>G, XM_017025121.3:c.7957C>G, XM_017025121.2:c.7957C>G, XM_017025121.1:c.7957C>G, XM_017025122.3:c.7936C>G, XM_017025122.2:c.7936C>G, XM_017025122.1:c.7936C>G, XM_017025123.3:c.7906C>G, XM_017025123.2:c.7906C>G, XM_017025123.1:c.7906C>G, XM_017025124.3:c.7846C>G, XM_017025124.2:c.7846C>G, XM_017025124.1:c.7846C>G, XM_017025125.3:c.7696C>G, XM_017025125.2:c.7696C>G, XM_017025125.1:c.7696C>G, XM_017025131.3:c.6244C>G, XM_017025131.2:c.6244C>G, XM_017025131.1:c.6244C>G, XM_017025127.3:c.7285C>G, XM_017025127.2:c.7285C>G, XM_017025127.1:c.7285C>G, XM_017025128.3:c.7258C>G, XM_017025128.2:c.7258C>G, XM_017025128.1:c.7258C>G, XM_017025129.3:c.6409C>G, XM_017025129.2:c.6409C>G, XM_017025129.1:c.6409C>G, XM_017025130.3:c.6349C>G, XM_017025130.2:c.6349C>G, XM_017025130.1:c.6349C>G, XM_017025136.3:c.5254C>G, XM_017025136.2:c.5254C>G, XM_017025136.1:c.5254C>G, XM_017025135.3:c.5254C>G, XM_017025135.2:c.5254C>G, XM_017025135.1:c.5254C>G, XM_017025137.3:c.4921C>G, XM_017025137.2:c.4921C>G, XM_017025137.1:c.4921C>G, XM_017025138.3:c.4486C>G, XM_017025138.2:c.4486C>G, XM_017025138.1:c.4486C>G, XM_017025140.3:c.4372C>G, XM_017025140.2:c.4372C>G, XM_017025140.1:c.4372C>G, XM_017025143.3:c.3580C>G, XM_017025143.2:c.3580C>G, XM_017025143.1:c.3580C>G, NM_001309242.2:c.8512C>G, NM_001309242.1:c.8512C>G, NR_003587.2:n.8300C>G, XM_024450952.2:c.3577C>G, XM_024450952.1:c.3577C>G, NM_001395058.1:c.8626C>G, XM_047436792.1:c.6019C>G, XM_047436790.1:c.6166C>G, XM_047436788.1:c.7972C>G, XM_047436791.1:c.6097C>G, XM_047436793.1:c.5641C>G, XM_047436794.1:c.5527C>G, XM_047436797.1:c.4375C>G, NM_024957.1:c.799C>G, XP_016880609.1:p.Leu2658Val, XP_016880610.1:p.Leu2653Val, XP_016880611.1:p.Leu2646Val, XP_016880612.1:p.Leu2636Val, XP_016880613.1:p.Leu2616Val, XP_016880614.1:p.Leu2566Val, XP_016880620.1:p.Leu2082Val, XP_016880616.1:p.Leu2429Val, XP_016880617.1:p.Leu2420Val, XP_016880618.1:p.Leu2137Val, XP_016880619.1:p.Leu2117Val, XP_016880625.1:p.Leu1752Val, XP_016880624.1:p.Leu1752Val, XP_016880626.1:p.Leu1641Val, XP_016880627.1:p.Leu1496Val, XP_016880629.1:p.Leu1458Val, XP_016880632.1:p.Leu1194Val, NP_001296171.1:p.Leu2838Val, XP_024306720.1:p.Leu1193Val, NP_001381987.1:p.Leu2876Val, XP_047292748.1:p.Leu2007Val, XP_047292746.1:p.Leu2056Val, XP_047292744.1:p.Leu2658Val, XP_047292747.1:p.Leu2033Val, XP_047292749.1:p.Leu1881Val, XP_047292750.1:p.Leu1843Val, XP_047292753.1:p.Leu1459Val

                              15.

                              rs1486718749 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:75589555 (GRCh38)
                                17:73585636 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:75589554:C:T
                                Gene:
                                MYO15B (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000011/3 (TOPMED)
                                T=0.000156/1 (1000Genomes)
                                HGVS:

                                16.

                                rs1486674129 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,T [Show Flanks]
                                  Chromosome:
                                  17:75624003 (GRCh38)
                                  17:73620083 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:75624002:C:A,NC_000017.11:75624002:C:T
                                  Gene:
                                  MYO15B (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                                  Validated:
                                  by frequency,by cluster
                                  MAF:
                                  A=0.00004/1 (TOMMO)
                                  HGVS:
                                  NC_000017.11:g.75624003C>A, NC_000017.11:g.75624003C>T, NC_000017.10:g.73620083C>A, NC_000017.10:g.73620083C>T, XM_017025120.3:c.7557C>A, XM_017025120.3:c.7557C>T, XM_017025120.2:c.7557C>A, XM_017025120.2:c.7557C>T, XM_017025120.1:c.7557C>A, XM_017025120.1:c.7557C>T, XM_017025121.3:c.7542C>A, XM_017025121.3:c.7542C>T, XM_017025121.2:c.7542C>A, XM_017025121.2:c.7542C>T, XM_017025121.1:c.7542C>A, XM_017025121.1:c.7542C>T, XM_017025122.3:c.7521C>A, XM_017025122.3:c.7521C>T, XM_017025122.2:c.7521C>A, XM_017025122.2:c.7521C>T, XM_017025122.1:c.7521C>A, XM_017025122.1:c.7521C>T, XM_017025124.3:c.7431C>A, XM_017025124.3:c.7431C>T, XM_017025124.2:c.7431C>A, XM_017025124.2:c.7431C>T, XM_017025124.1:c.7431C>A, XM_017025124.1:c.7431C>T, XM_017025125.3:c.7281C>A, XM_017025125.3:c.7281C>T, XM_017025125.2:c.7281C>A, XM_017025125.2:c.7281C>T, XM_017025125.1:c.7281C>A, XM_017025125.1:c.7281C>T, XM_017025131.3:c.5829C>A, XM_017025131.3:c.5829C>T, XM_017025131.2:c.5829C>A, XM_017025131.2:c.5829C>T, XM_017025131.1:c.5829C>A, XM_017025131.1:c.5829C>T, XM_017025127.3:c.6870C>A, XM_017025127.3:c.6870C>T, XM_017025127.2:c.6870C>A, XM_017025127.2:c.6870C>T, XM_017025127.1:c.6870C>A, XM_017025127.1:c.6870C>T, XM_017025128.3:c.6843C>A, XM_017025128.3:c.6843C>T, XM_017025128.2:c.6843C>A, XM_017025128.2:c.6843C>T, XM_017025128.1:c.6843C>A, XM_017025128.1:c.6843C>T, XM_017025129.3:c.5994C>A, XM_017025129.3:c.5994C>T, XM_017025129.2:c.5994C>A, XM_017025129.2:c.5994C>T, XM_017025129.1:c.5994C>A, XM_017025129.1:c.5994C>T, XM_017025130.3:c.5934C>A, XM_017025130.3:c.5934C>T, XM_017025130.2:c.5934C>A, XM_017025130.2:c.5934C>T, XM_017025130.1:c.5934C>A, XM_017025130.1:c.5934C>T, XM_017025136.3:c.4839C>A, XM_017025136.3:c.4839C>T, XM_017025136.2:c.4839C>A, XM_017025136.2:c.4839C>T, XM_017025136.1:c.4839C>A, XM_017025136.1:c.4839C>T, XM_017025135.3:c.4839C>A, XM_017025135.3:c.4839C>T, XM_017025135.2:c.4839C>A, XM_017025135.2:c.4839C>T, XM_017025135.1:c.4839C>A, XM_017025135.1:c.4839C>T, XM_017025137.3:c.4506C>A, XM_017025137.3:c.4506C>T, XM_017025137.2:c.4506C>A, XM_017025137.2:c.4506C>T, XM_017025137.1:c.4506C>A, XM_017025137.1:c.4506C>T, XM_017025138.3:c.4071C>A, XM_017025138.3:c.4071C>T, XM_017025138.2:c.4071C>A, XM_017025138.2:c.4071C>T, XM_017025138.1:c.4071C>A, XM_017025138.1:c.4071C>T, XM_017025140.3:c.3957C>A, XM_017025140.3:c.3957C>T, XM_017025140.2:c.3957C>A, XM_017025140.2:c.3957C>T, XM_017025140.1:c.3957C>A, XM_017025140.1:c.3957C>T, XM_017025143.3:c.3165C>A, XM_017025143.3:c.3165C>T, XM_017025143.2:c.3165C>A, XM_017025143.2:c.3165C>T, XM_017025143.1:c.3165C>A, XM_017025143.1:c.3165C>T, NM_001309242.2:c.8097C>A, NM_001309242.2:c.8097C>T, NM_001309242.1:c.8097C>A, NM_001309242.1:c.8097C>T, NR_003587.2:n.7963C>A, NR_003587.2:n.7963C>T, XM_024450952.2:c.3162C>A, XM_024450952.2:c.3162C>T, XM_024450952.1:c.3162C>A, XM_024450952.1:c.3162C>T, NM_001395058.1:c.8211C>A, NM_001395058.1:c.8211C>T, XM_047436792.1:c.5604C>A, XM_047436792.1:c.5604C>T, XM_047436790.1:c.5751C>A, XM_047436790.1:c.5751C>T, XM_047436788.1:c.7557C>A, XM_047436788.1:c.7557C>T, XM_047436789.1:c.7557C>A, XM_047436789.1:c.7557C>T, XM_047436791.1:c.5682C>A, XM_047436791.1:c.5682C>T, XM_047436793.1:c.5226C>A, XM_047436793.1:c.5226C>T, XM_047436794.1:c.5112C>A, XM_047436794.1:c.5112C>T, XM_047436797.1:c.3960C>A, XM_047436797.1:c.3960C>T, NM_024957.1:c.384C>A, NM_024957.1:c.384C>T

                                  17.

                                  rs1486390912 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:75619898 (GRCh38)
                                    17:73615978 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:75619897:G:A
                                    Gene:
                                    MYO15B (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.75619898G>A, NC_000017.10:g.73615978G>A, XM_017025120.3:c.6667G>A, XM_017025120.2:c.6667G>A, XM_017025120.1:c.6667G>A, XM_017025121.3:c.6652G>A, XM_017025121.2:c.6652G>A, XM_017025121.1:c.6652G>A, XM_017025122.3:c.6631G>A, XM_017025122.2:c.6631G>A, XM_017025122.1:c.6631G>A, XM_017025123.3:c.6667G>A, XM_017025123.2:c.6667G>A, XM_017025123.1:c.6667G>A, XM_017025124.3:c.6541G>A, XM_017025124.2:c.6541G>A, XM_017025124.1:c.6541G>A, XM_017025125.3:c.6391G>A, XM_017025125.2:c.6391G>A, XM_017025125.1:c.6391G>A, XM_017025131.3:c.4939G>A, XM_017025131.2:c.4939G>A, XM_017025131.1:c.4939G>A, XM_017025127.3:c.5980G>A, XM_017025127.2:c.5980G>A, XM_017025127.1:c.5980G>A, XM_017025128.3:c.5953G>A, XM_017025128.2:c.5953G>A, XM_017025128.1:c.5953G>A, XM_017025129.3:c.5104G>A, XM_017025129.2:c.5104G>A, XM_017025129.1:c.5104G>A, XM_017025130.3:c.5044G>A, XM_017025130.2:c.5044G>A, XM_017025130.1:c.5044G>A, XM_017025136.3:c.3949G>A, XM_017025136.2:c.3949G>A, XM_017025136.1:c.3949G>A, XM_017025135.3:c.3949G>A, XM_017025135.2:c.3949G>A, XM_017025135.1:c.3949G>A, XM_017025137.3:c.3616G>A, XM_017025137.2:c.3616G>A, XM_017025137.1:c.3616G>A, XM_017025138.3:c.3181G>A, XM_017025138.2:c.3181G>A, XM_017025138.1:c.3181G>A, XM_017025140.3:c.3067G>A, XM_017025140.2:c.3067G>A, XM_017025140.1:c.3067G>A, XM_017025143.3:c.2275G>A, XM_017025143.2:c.2275G>A, XM_017025143.1:c.2275G>A, NM_001309242.2:c.7207G>A, NM_001309242.1:c.7207G>A, NR_003587.2:n.7073G>A, XM_024450952.2:c.2272G>A, XM_024450952.1:c.2272G>A, NM_001395058.1:c.7321G>A, XM_047436792.1:c.4714G>A, XM_047436790.1:c.4861G>A, XM_047436788.1:c.6667G>A, XM_047436789.1:c.6667G>A, XM_047436791.1:c.4792G>A, XM_047436793.1:c.4336G>A, XM_047436794.1:c.4222G>A, XM_047436797.1:c.3070G>A, XP_016880609.1:p.Val2223Met, XP_016880610.1:p.Val2218Met, XP_016880611.1:p.Val2211Met, XP_016880612.1:p.Val2223Met, XP_016880613.1:p.Val2181Met, XP_016880614.1:p.Val2131Met, XP_016880620.1:p.Val1647Met, XP_016880616.1:p.Val1994Met, XP_016880617.1:p.Val1985Met, XP_016880618.1:p.Val1702Met, XP_016880619.1:p.Val1682Met, XP_016880625.1:p.Val1317Met, XP_016880624.1:p.Val1317Met, XP_016880626.1:p.Val1206Met, XP_016880627.1:p.Val1061Met, XP_016880629.1:p.Val1023Met, XP_016880632.1:p.Val759Met, NP_001296171.1:p.Val2403Met, XP_024306720.1:p.Val758Met, NP_001381987.1:p.Val2441Met, XP_047292748.1:p.Val1572Met, XP_047292746.1:p.Val1621Met, XP_047292744.1:p.Val2223Met, XP_047292745.1:p.Val2223Met, XP_047292747.1:p.Val1598Met, XP_047292749.1:p.Val1446Met, XP_047292750.1:p.Val1408Met, XP_047292753.1:p.Val1024Met

                                    18.

                                    rs1485616207 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      17:75615505 (GRCh38)
                                      17:73611586 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:75615504:A:G
                                      Gene:
                                      MYO15B (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.75615505A>G, NC_000017.10:g.73611586A>G, XM_017025120.3:c.5089A>G, XM_017025120.2:c.5089A>G, XM_017025120.1:c.5089A>G, XM_017025121.3:c.5074A>G, XM_017025121.2:c.5074A>G, XM_017025121.1:c.5074A>G, XM_017025122.3:c.5053A>G, XM_017025122.2:c.5053A>G, XM_017025122.1:c.5053A>G, XM_017025123.3:c.5089A>G, XM_017025123.2:c.5089A>G, XM_017025123.1:c.5089A>G, XM_017025124.3:c.4963A>G, XM_017025124.2:c.4963A>G, XM_017025124.1:c.4963A>G, XM_017025125.3:c.4813A>G, XM_017025125.2:c.4813A>G, XM_017025125.1:c.4813A>G, XM_017025131.3:c.3361A>G, XM_017025131.2:c.3361A>G, XM_017025131.1:c.3361A>G, XM_017025127.3:c.4402A>G, XM_017025127.2:c.4402A>G, XM_017025127.1:c.4402A>G, XM_017025128.3:c.4375A>G, XM_017025128.2:c.4375A>G, XM_017025128.1:c.4375A>G, XM_017025129.3:c.3526A>G, XM_017025129.2:c.3526A>G, XM_017025129.1:c.3526A>G, XM_017025130.3:c.3466A>G, XM_017025130.2:c.3466A>G, XM_017025130.1:c.3466A>G, XM_017025136.3:c.2371A>G, XM_017025136.2:c.2371A>G, XM_017025136.1:c.2371A>G, XM_017025135.3:c.2371A>G, XM_017025135.2:c.2371A>G, XM_017025135.1:c.2371A>G, XM_017025137.3:c.2038A>G, XM_017025137.2:c.2038A>G, XM_017025137.1:c.2038A>G, XM_017025138.3:c.1603A>G, XM_017025138.2:c.1603A>G, XM_017025138.1:c.1603A>G, XM_017025140.3:c.1489A>G, XM_017025140.2:c.1489A>G, XM_017025140.1:c.1489A>G, XM_017025143.3:c.697A>G, XM_017025143.2:c.697A>G, XM_017025143.1:c.697A>G, NM_001309242.2:c.5629A>G, NM_001309242.1:c.5629A>G, NR_003587.2:n.5492A>G, XM_024450952.2:c.694A>G, XM_024450952.1:c.694A>G, NM_001395058.1:c.5743A>G, XM_047436792.1:c.3136A>G, XM_047436790.1:c.3283A>G, XM_047436788.1:c.5089A>G, XM_047436789.1:c.5089A>G, XM_047436791.1:c.3214A>G, XM_047436793.1:c.2758A>G, XM_047436794.1:c.2644A>G, XM_047436795.1:c.5089A>G, XM_047436796.1:c.5089A>G, XM_047436797.1:c.1492A>G, XP_016880609.1:p.Met1697Val, XP_016880610.1:p.Met1692Val, XP_016880611.1:p.Met1685Val, XP_016880612.1:p.Met1697Val, XP_016880613.1:p.Met1655Val, XP_016880614.1:p.Met1605Val, XP_016880620.1:p.Met1121Val, XP_016880616.1:p.Met1468Val, XP_016880617.1:p.Met1459Val, XP_016880618.1:p.Met1176Val, XP_016880619.1:p.Met1156Val, XP_016880625.1:p.Met791Val, XP_016880624.1:p.Met791Val, XP_016880626.1:p.Met680Val, XP_016880627.1:p.Met535Val, XP_016880629.1:p.Met497Val, XP_016880632.1:p.Met233Val, NP_001296171.1:p.Met1877Val, XP_024306720.1:p.Met232Val, NP_001381987.1:p.Met1915Val, XP_047292748.1:p.Met1046Val, XP_047292746.1:p.Met1095Val, XP_047292744.1:p.Met1697Val, XP_047292745.1:p.Met1697Val, XP_047292747.1:p.Met1072Val, XP_047292749.1:p.Met920Val, XP_047292750.1:p.Met882Val, XP_047292751.1:p.Met1697Val, XP_047292752.1:p.Met1697Val, XP_047292753.1:p.Met498Val

                                      19.

                                      rs1485432795 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        17:75615330 (GRCh38)
                                        17:73611411 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:75615329:C:T
                                        Gene:
                                        MYO15B (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        HGVS:
                                        NC_000017.11:g.75615330C>T, NC_000017.10:g.73611411C>T, XM_017025120.3:c.5078C>T, XM_017025120.2:c.5078C>T, XM_017025120.1:c.5078C>T, XM_017025121.3:c.5063C>T, XM_017025121.2:c.5063C>T, XM_017025121.1:c.5063C>T, XM_017025122.3:c.5042C>T, XM_017025122.2:c.5042C>T, XM_017025122.1:c.5042C>T, XM_017025123.3:c.5078C>T, XM_017025123.2:c.5078C>T, XM_017025123.1:c.5078C>T, XM_017025124.3:c.4952C>T, XM_017025124.2:c.4952C>T, XM_017025124.1:c.4952C>T, XM_017025125.3:c.4802C>T, XM_017025125.2:c.4802C>T, XM_017025125.1:c.4802C>T, XM_017025131.3:c.3350C>T, XM_017025131.2:c.3350C>T, XM_017025131.1:c.3350C>T, XM_017025127.3:c.4391C>T, XM_017025127.2:c.4391C>T, XM_017025127.1:c.4391C>T, XM_017025128.3:c.4364C>T, XM_017025128.2:c.4364C>T, XM_017025128.1:c.4364C>T, XM_017025129.3:c.3515C>T, XM_017025129.2:c.3515C>T, XM_017025129.1:c.3515C>T, XM_017025130.3:c.3455C>T, XM_017025130.2:c.3455C>T, XM_017025130.1:c.3455C>T, XM_017025136.3:c.2360C>T, XM_017025136.2:c.2360C>T, XM_017025136.1:c.2360C>T, XM_017025135.3:c.2360C>T, XM_017025135.2:c.2360C>T, XM_017025135.1:c.2360C>T, XM_017025137.3:c.2027C>T, XM_017025137.2:c.2027C>T, XM_017025137.1:c.2027C>T, XM_017025138.3:c.1592C>T, XM_017025138.2:c.1592C>T, XM_017025138.1:c.1592C>T, XM_017025140.3:c.1478C>T, XM_017025140.2:c.1478C>T, XM_017025140.1:c.1478C>T, XM_017025143.3:c.686C>T, XM_017025143.2:c.686C>T, XM_017025143.1:c.686C>T, NM_001309242.2:c.5618C>T, NM_001309242.1:c.5618C>T, NR_003587.2:n.5481C>T, XM_024450952.2:c.683C>T, XM_024450952.1:c.683C>T, NM_001395058.1:c.5732C>T, XM_047436792.1:c.3125C>T, XM_047436790.1:c.3272C>T, XM_047436788.1:c.5078C>T, XM_047436789.1:c.5078C>T, XM_047436791.1:c.3203C>T, XM_047436793.1:c.2747C>T, XM_047436794.1:c.2633C>T, XM_047436795.1:c.5078C>T, XM_047436796.1:c.5078C>T, XM_047436797.1:c.1481C>T, XP_016880609.1:p.Ala1693Val, XP_016880610.1:p.Ala1688Val, XP_016880611.1:p.Ala1681Val, XP_016880612.1:p.Ala1693Val, XP_016880613.1:p.Ala1651Val, XP_016880614.1:p.Ala1601Val, XP_016880620.1:p.Ala1117Val, XP_016880616.1:p.Ala1464Val, XP_016880617.1:p.Ala1455Val, XP_016880618.1:p.Ala1172Val, XP_016880619.1:p.Ala1152Val, XP_016880625.1:p.Ala787Val, XP_016880624.1:p.Ala787Val, XP_016880626.1:p.Ala676Val, XP_016880627.1:p.Ala531Val, XP_016880629.1:p.Ala493Val, XP_016880632.1:p.Ala229Val, NP_001296171.1:p.Ala1873Val, XP_024306720.1:p.Ala228Val, NP_001381987.1:p.Ala1911Val, XP_047292748.1:p.Ala1042Val, XP_047292746.1:p.Ala1091Val, XP_047292744.1:p.Ala1693Val, XP_047292745.1:p.Ala1693Val, XP_047292747.1:p.Ala1068Val, XP_047292749.1:p.Ala916Val, XP_047292750.1:p.Ala878Val, XP_047292751.1:p.Ala1693Val, XP_047292752.1:p.Ala1693Val, XP_047292753.1:p.Ala494Val

                                        20.

                                        rs1485381698 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          17:75616615 (GRCh38)
                                          17:73612695 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:75616614:G:T
                                          Gene:
                                          MYO15B (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.75616615G>T, NC_000017.10:g.73612695G>T, XM_017025120.3:c.5682G>T, XM_017025120.2:c.5682G>T, XM_017025120.1:c.5682G>T, XM_017025121.3:c.5667G>T, XM_017025121.2:c.5667G>T, XM_017025121.1:c.5667G>T, XM_017025122.3:c.5646G>T, XM_017025122.2:c.5646G>T, XM_017025122.1:c.5646G>T, XM_017025123.3:c.5682G>T, XM_017025123.2:c.5682G>T, XM_017025123.1:c.5682G>T, XM_017025124.3:c.5556G>T, XM_017025124.2:c.5556G>T, XM_017025124.1:c.5556G>T, XM_017025125.3:c.5406G>T, XM_017025125.2:c.5406G>T, XM_017025125.1:c.5406G>T, XM_017025131.3:c.3954G>T, XM_017025131.2:c.3954G>T, XM_017025131.1:c.3954G>T, XM_017025127.3:c.4995G>T, XM_017025127.2:c.4995G>T, XM_017025127.1:c.4995G>T, XM_017025128.3:c.4968G>T, XM_017025128.2:c.4968G>T, XM_017025128.1:c.4968G>T, XM_017025129.3:c.4119G>T, XM_017025129.2:c.4119G>T, XM_017025129.1:c.4119G>T, XM_017025130.3:c.4059G>T, XM_017025130.2:c.4059G>T, XM_017025130.1:c.4059G>T, XM_017025136.3:c.2964G>T, XM_017025136.2:c.2964G>T, XM_017025136.1:c.2964G>T, XM_017025135.3:c.2964G>T, XM_017025135.2:c.2964G>T, XM_017025135.1:c.2964G>T, XM_017025137.3:c.2631G>T, XM_017025137.2:c.2631G>T, XM_017025137.1:c.2631G>T, XM_017025138.3:c.2196G>T, XM_017025138.2:c.2196G>T, XM_017025138.1:c.2196G>T, XM_017025140.3:c.2082G>T, XM_017025140.2:c.2082G>T, XM_017025140.1:c.2082G>T, XM_017025143.3:c.1290G>T, XM_017025143.2:c.1290G>T, XM_017025143.1:c.1290G>T, NM_001309242.2:c.6222G>T, NM_001309242.1:c.6222G>T, NR_003587.2:n.6085G>T, XM_024450952.2:c.1287G>T, XM_024450952.1:c.1287G>T, NM_001395058.1:c.6336G>T, XM_047436792.1:c.3729G>T, XM_047436790.1:c.3876G>T, XM_047436788.1:c.5682G>T, XM_047436789.1:c.5682G>T, XM_047436791.1:c.3807G>T, XM_047436793.1:c.3351G>T, XM_047436794.1:c.3237G>T, XM_047436795.1:c.5682G>T, XM_047436797.1:c.2085G>T, XP_016880609.1:p.Lys1894Asn, XP_016880610.1:p.Lys1889Asn, XP_016880611.1:p.Lys1882Asn, XP_016880612.1:p.Lys1894Asn, XP_016880613.1:p.Lys1852Asn, XP_016880614.1:p.Lys1802Asn, XP_016880620.1:p.Lys1318Asn, XP_016880616.1:p.Lys1665Asn, XP_016880617.1:p.Lys1656Asn, XP_016880618.1:p.Lys1373Asn, XP_016880619.1:p.Lys1353Asn, XP_016880625.1:p.Lys988Asn, XP_016880624.1:p.Lys988Asn, XP_016880626.1:p.Lys877Asn, XP_016880627.1:p.Lys732Asn, XP_016880629.1:p.Lys694Asn, XP_016880632.1:p.Lys430Asn, NP_001296171.1:p.Lys2074Asn, XP_024306720.1:p.Lys429Asn, NP_001381987.1:p.Lys2112Asn, XP_047292748.1:p.Lys1243Asn, XP_047292746.1:p.Lys1292Asn, XP_047292744.1:p.Lys1894Asn, XP_047292745.1:p.Lys1894Asn, XP_047292747.1:p.Lys1269Asn, XP_047292749.1:p.Lys1117Asn, XP_047292750.1:p.Lys1079Asn, XP_047292751.1:p.Lys1894Asn, XP_047292753.1:p.Lys695Asn

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