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Items: 1 to 20 of 351

1.

rs1490154441 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:44189344 (GRCh38)
    17:42266712 (GRCh37)
    Canonical SPDI:
    NC_000017.11:44189343:T:C
    Gene:
    TMUB2 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,intron_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.44189344T>C, NC_000017.10:g.42266712T>C, NM_177441.4:c.298T>C, NM_177441.3:c.298T>C, NM_177441.2:c.298T>C, NM_024107.4:c.298T>C, NM_024107.3:c.298T>C, NM_024107.2:c.298T>C, XM_011525201.3:c.358T>C, XM_011525201.2:c.358T>C, XM_011525201.1:c.358T>C, NM_001076674.3:c.358T>C, NM_001076674.2:c.358T>C, NM_001076674.1:c.358T>C, NM_001353189.2:c.331T>C, NM_001353189.1:c.331T>C, NM_001353181.2:c.358T>C, NM_001353181.1:c.358T>C, NM_001353191.2:c.298T>C, NM_001353191.1:c.298T>C, NM_001353175.2:c.298T>C, NM_001353175.1:c.298T>C, NM_001353176.2:c.298T>C, NM_001353176.1:c.298T>C, NM_001353188.2:c.298T>C, NM_001353188.1:c.298T>C, NM_001353184.2:c.358T>C, NM_001353184.1:c.358T>C, NM_001353178.2:c.298T>C, NM_001353178.1:c.298T>C, NM_001353177.2:c.358T>C, NM_001353177.1:c.358T>C, NM_001353180.2:c.331T>C, NM_001353180.1:c.331T>C, NM_001353190.2:c.298T>C, NM_001353190.1:c.298T>C, NM_001353182.2:c.298T>C, NM_001353182.1:c.298T>C, NM_001353173.2:c.298T>C, NM_001353173.1:c.298T>C, NM_001353183.2:c.298T>C, NM_001353183.1:c.298T>C, XM_047436706.1:c.298T>C, XM_047436702.1:c.331T>C, XM_047436705.1:c.331T>C, XM_047436707.1:c.298T>C, XM_047436699.1:c.358T>C, XM_047436703.1:c.331T>C, XM_047436700.1:c.358T>C, XM_047436704.1:c.331T>C, NP_803190.2:p.Ser100Pro, NP_077012.2:p.Ser100Pro, XP_011523503.1:p.Ser120Pro, NP_001070142.1:p.Ser120Pro, NP_001340118.1:p.Ser111Pro, NP_001340110.1:p.Ser120Pro, NP_001340120.1:p.Ser100Pro, NP_001340104.1:p.Ser100Pro, NP_001340105.1:p.Ser100Pro, NP_001340117.1:p.Ser100Pro, NP_001340113.1:p.Ser120Pro, NP_001340107.1:p.Ser100Pro, NP_001340106.1:p.Ser120Pro, NP_001340109.1:p.Ser111Pro, NP_001340119.1:p.Ser100Pro, NP_001340111.1:p.Ser100Pro, NP_001340102.1:p.Ser100Pro, NP_001340112.1:p.Ser100Pro, XP_047292662.1:p.Ser100Pro, XP_047292658.1:p.Ser111Pro, XP_047292661.1:p.Ser111Pro, XP_047292663.1:p.Ser100Pro, XP_047292655.1:p.Ser120Pro, XP_047292659.1:p.Ser111Pro, XP_047292656.1:p.Ser120Pro, XP_047292660.1:p.Ser111Pro

    2.

    rs1489954584 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      17:44189129 (GRCh38)
      17:42266497 (GRCh37)
      Canonical SPDI:
      NC_000017.11:44189128:C:T
      Gene:
      TMUB2 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.44189129C>T, NC_000017.10:g.42266497C>T, NM_177441.4:c.83C>T, NM_177441.3:c.83C>T, NM_177441.2:c.83C>T, NM_024107.4:c.83C>T, NM_024107.3:c.83C>T, NM_024107.2:c.83C>T, XM_011525211.4:c.143C>T, XM_011525211.3:c.413C>T, XM_011525211.2:c.413C>T, XM_011525211.1:c.413C>T, XM_011525200.4:c.143C>T, XM_011525200.3:c.413C>T, XM_011525200.2:c.413C>T, XM_011525200.1:c.413C>T, XM_011525201.3:c.143C>T, XM_011525201.2:c.143C>T, XM_011525201.1:c.143C>T, NM_001076674.3:c.143C>T, NM_001076674.2:c.143C>T, NM_001076674.1:c.143C>T, NM_001353189.2:c.116C>T, NM_001353189.1:c.116C>T, NM_001353181.2:c.143C>T, NM_001353181.1:c.143C>T, NM_001353187.2:c.116C>T, NM_001353187.1:c.116C>T, NM_001353191.2:c.83C>T, NM_001353191.1:c.83C>T, NM_001353175.2:c.83C>T, NM_001353175.1:c.83C>T, NM_001353176.2:c.83C>T, NM_001353176.1:c.83C>T, NR_148390.2:n.736C>T, NR_148390.1:n.743C>T, NM_001353188.2:c.83C>T, NM_001353188.1:c.83C>T, NM_001353184.2:c.143C>T, NM_001353184.1:c.143C>T, NM_001353178.2:c.83C>T, NM_001353178.1:c.83C>T, NM_001330235.2:c.83C>T, NM_001330235.1:c.83C>T, NM_001353177.2:c.143C>T, NM_001353177.1:c.143C>T, NM_001353180.2:c.116C>T, NM_001353180.1:c.116C>T, NM_001353190.2:c.83C>T, NM_001353190.1:c.83C>T, NM_001353182.2:c.83C>T, NM_001353182.1:c.83C>T, NR_148387.2:n.417C>T, NR_148387.1:n.438C>T, XM_024450930.2:c.116C>T, XM_024450930.1:c.116C>T, NR_148389.2:n.504C>T, NR_148389.1:n.525C>T, XM_024450929.2:c.143C>T, XM_024450929.1:c.143C>T, NM_001353173.2:c.83C>T, NM_001353173.1:c.83C>T, NM_001353185.2:c.116C>T, NM_001353185.1:c.116C>T, NR_148388.2:n.337C>T, NR_148388.1:n.344C>T, NM_001353183.2:c.83C>T, NM_001353183.1:c.83C>T, NM_001353186.2:c.143C>T, NM_001353186.1:c.143C>T, NM_001353174.2:c.83C>T, NM_001353174.1:c.83C>T, XM_024450933.2:c.83C>T, XM_024450933.1:c.83C>T, NR_148386.2:n.246C>T, NR_148386.1:n.267C>T, XM_047436706.1:c.83C>T, XM_047436702.1:c.116C>T, XM_047436705.1:c.116C>T, XM_047436707.1:c.83C>T, XM_047436699.1:c.143C>T, XM_047436708.1:c.143C>T, XM_047436703.1:c.116C>T, XM_047436710.1:c.83C>T, XM_047436701.1:c.143C>T, XM_047436711.1:c.116C>T, XM_047436709.1:c.83C>T, XM_047436700.1:c.143C>T, XM_047436704.1:c.116C>T, XM_047436712.1:c.116C>T, NP_803190.2:p.Ala28Val, NP_077012.2:p.Ala28Val, XP_011523513.2:p.Ala48Val, XP_011523502.2:p.Ala48Val, XP_011523503.1:p.Ala48Val, NP_001070142.1:p.Ala48Val, NP_001340118.1:p.Ala39Val, NP_001340110.1:p.Ala48Val, NP_001340116.1:p.Ala39Val, NP_001340120.1:p.Ala28Val, NP_001340104.1:p.Ala28Val, NP_001340105.1:p.Ala28Val, NP_001340117.1:p.Ala28Val, NP_001340113.1:p.Ala48Val, NP_001340107.1:p.Ala28Val, NP_001317164.1:p.Ala28Val, NP_001340106.1:p.Ala48Val, NP_001340109.1:p.Ala39Val, NP_001340119.1:p.Ala28Val, NP_001340111.1:p.Ala28Val, XP_024306698.1:p.Ala39Val, XP_024306697.1:p.Ala48Val, NP_001340102.1:p.Ala28Val, NP_001340114.1:p.Ala39Val, NP_001340112.1:p.Ala28Val, NP_001340115.1:p.Ala48Val, NP_001340103.1:p.Ala28Val, XP_024306701.1:p.Ala28Val, XP_047292662.1:p.Ala28Val, XP_047292658.1:p.Ala39Val, XP_047292661.1:p.Ala39Val, XP_047292663.1:p.Ala28Val, XP_047292655.1:p.Ala48Val, XP_047292664.1:p.Ala48Val, XP_047292659.1:p.Ala39Val, XP_047292666.1:p.Ala28Val, XP_047292657.1:p.Ala48Val, XP_047292667.1:p.Ala39Val, XP_047292665.1:p.Ala28Val, XP_047292656.1:p.Ala48Val, XP_047292660.1:p.Ala39Val, XP_047292668.1:p.Ala39Val

      3.

      rs1487205545 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        17:44190718 (GRCh38)
        17:42268086 (GRCh37)
        Canonical SPDI:
        NC_000017.11:44190717:A:G
        Gene:
        TMUB2 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000017.11:g.44190718A>G, NC_000017.10:g.42268086A>G, NM_177441.4:c.760A>G, NM_177441.3:c.760A>G, NM_177441.2:c.760A>G, NM_024107.4:c.760A>G, NM_024107.3:c.760A>G, NM_024107.2:c.760A>G, XM_011525211.4:c.*186A>G, XM_011525211.3:c.*186A>G, XM_011525211.2:c.*186A>G, XM_011525200.4:c.709A>G, XM_011525200.3:c.979A>G, XM_011525200.2:c.979A>G, XM_011525200.1:c.979A>G, XM_011525201.3:c.820A>G, XM_011525201.2:c.820A>G, XM_011525201.1:c.820A>G, NM_001076674.3:c.820A>G, NM_001076674.2:c.820A>G, NM_001076674.1:c.820A>G, NM_001353189.2:c.793A>G, NM_001353189.1:c.793A>G, NM_001353181.2:c.820A>G, NM_001353181.1:c.820A>G, NM_001353187.2:c.682A>G, NM_001353187.1:c.682A>G, NM_001353191.2:c.760A>G, NM_001353191.1:c.760A>G, NM_001353175.2:c.760A>G, NM_001353175.1:c.760A>G, NM_001353176.2:c.760A>G, NM_001353176.1:c.760A>G, NR_148390.2:n.1124A>G, NR_148390.1:n.1131A>G, NM_001353188.2:c.760A>G, NM_001353188.1:c.760A>G, NM_001353184.2:c.820A>G, NM_001353184.1:c.820A>G, NM_001353178.2:c.760A>G, NM_001353178.1:c.760A>G, NM_001330235.2:c.649A>G, NM_001330235.1:c.649A>G, NM_001353177.2:c.820A>G, NM_001353177.1:c.820A>G, NM_001353180.2:c.793A>G, NM_001353180.1:c.793A>G, NM_001353190.2:c.760A>G, NM_001353190.1:c.760A>G, NM_001353182.2:c.760A>G, NM_001353182.1:c.760A>G, NR_148387.2:n.970A>G, NR_148387.1:n.991A>G, XM_024450930.2:c.682A>G, XM_024450930.1:c.682A>G, NR_148389.2:n.892A>G, NR_148389.1:n.913A>G, XM_024450929.2:c.709A>G, XM_024450929.1:c.709A>G, NM_001353173.2:c.760A>G, NM_001353173.1:c.760A>G, NM_001353185.2:c.682A>G, NM_001353185.1:c.682A>G, NR_148388.2:n.725A>G, NR_148388.1:n.732A>G, NM_001353183.2:c.760A>G, NM_001353183.1:c.760A>G, NM_001353186.2:c.*186A>G, NM_001353186.1:c.*186A>G, NM_001353174.2:c.649A>G, NM_001353174.1:c.649A>G, XM_024450933.2:c.649A>G, XM_024450933.1:c.649A>G, NR_148386.2:n.634A>G, NR_148386.1:n.655A>G, XM_047436706.1:c.760A>G, XM_047436702.1:c.793A>G, XM_047436705.1:c.793A>G, XM_047436707.1:c.760A>G, XM_047436699.1:c.820A>G, XM_047436708.1:c.709A>G, XM_047436703.1:c.793A>G, XM_047436710.1:c.649A>G, XM_047436701.1:c.709A>G, XM_047436711.1:c.*186A>G, XM_047436709.1:c.649A>G, XM_047436700.1:c.820A>G, XM_047436704.1:c.793A>G, XM_047436712.1:c.*186A>G, NP_803190.2:p.Met254Val, NP_077012.2:p.Met254Val, XP_011523502.2:p.Met237Val, XP_011523503.1:p.Met274Val, NP_001070142.1:p.Met274Val, NP_001340118.1:p.Met265Val, NP_001340110.1:p.Met274Val, NP_001340116.1:p.Met228Val, NP_001340120.1:p.Met254Val, NP_001340104.1:p.Met254Val, NP_001340105.1:p.Met254Val, NP_001340117.1:p.Met254Val, NP_001340113.1:p.Met274Val, NP_001340107.1:p.Met254Val, NP_001317164.1:p.Met217Val, NP_001340106.1:p.Met274Val, NP_001340109.1:p.Met265Val, NP_001340119.1:p.Met254Val, NP_001340111.1:p.Met254Val, XP_024306698.1:p.Met228Val, XP_024306697.1:p.Met237Val, NP_001340102.1:p.Met254Val, NP_001340114.1:p.Met228Val, NP_001340112.1:p.Met254Val, NP_001340103.1:p.Met217Val, XP_024306701.1:p.Met217Val, XP_047292662.1:p.Met254Val, XP_047292658.1:p.Met265Val, XP_047292661.1:p.Met265Val, XP_047292663.1:p.Met254Val, XP_047292655.1:p.Met274Val, XP_047292664.1:p.Met237Val, XP_047292659.1:p.Met265Val, XP_047292666.1:p.Met217Val, XP_047292657.1:p.Met237Val, XP_047292665.1:p.Met217Val, XP_047292656.1:p.Met274Val, XP_047292660.1:p.Met265Val

        4.

        rs1482892992 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          17:44189489 (GRCh38)
          17:42266857 (GRCh37)
          Canonical SPDI:
          NC_000017.11:44189488:C:T
          Gene:
          TMUB2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000017.11:g.44189489C>T, NC_000017.10:g.42266857C>T, NM_177441.4:c.443C>T, NM_177441.3:c.443C>T, NM_177441.2:c.443C>T, NM_024107.4:c.443C>T, NM_024107.3:c.443C>T, NM_024107.2:c.443C>T, XM_011525200.4:c.392C>T, XM_011525200.3:c.662C>T, XM_011525200.2:c.662C>T, XM_011525200.1:c.662C>T, XM_011525201.3:c.503C>T, XM_011525201.2:c.503C>T, XM_011525201.1:c.503C>T, NM_001076674.3:c.503C>T, NM_001076674.2:c.503C>T, NM_001076674.1:c.503C>T, NM_001353189.2:c.476C>T, NM_001353189.1:c.476C>T, NM_001353181.2:c.503C>T, NM_001353181.1:c.503C>T, NM_001353187.2:c.365C>T, NM_001353187.1:c.365C>T, NM_001353191.2:c.443C>T, NM_001353191.1:c.443C>T, NM_001353175.2:c.443C>T, NM_001353175.1:c.443C>T, NM_001353176.2:c.443C>T, NM_001353176.1:c.443C>T, NM_001353188.2:c.443C>T, NM_001353188.1:c.443C>T, NM_001353184.2:c.503C>T, NM_001353184.1:c.503C>T, NM_001353178.2:c.443C>T, NM_001353178.1:c.443C>T, NM_001330235.2:c.332C>T, NM_001330235.1:c.332C>T, NM_001353177.2:c.503C>T, NM_001353177.1:c.503C>T, NM_001353180.2:c.476C>T, NM_001353180.1:c.476C>T, NM_001353190.2:c.443C>T, NM_001353190.1:c.443C>T, NM_001353182.2:c.443C>T, NM_001353182.1:c.443C>T, NR_148387.2:n.653C>T, NR_148387.1:n.674C>T, XM_024450930.2:c.365C>T, XM_024450930.1:c.365C>T, XM_024450929.2:c.392C>T, XM_024450929.1:c.392C>T, NM_001353173.2:c.443C>T, NM_001353173.1:c.443C>T, NM_001353185.2:c.365C>T, NM_001353185.1:c.365C>T, NM_001353183.2:c.443C>T, NM_001353183.1:c.443C>T, NM_001353174.2:c.332C>T, NM_001353174.1:c.332C>T, XM_024450933.2:c.332C>T, XM_024450933.1:c.332C>T, XM_047436706.1:c.443C>T, XM_047436702.1:c.476C>T, XM_047436705.1:c.476C>T, XM_047436707.1:c.443C>T, XM_047436699.1:c.503C>T, XM_047436708.1:c.392C>T, XM_047436703.1:c.476C>T, XM_047436710.1:c.332C>T, XM_047436701.1:c.392C>T, XM_047436709.1:c.332C>T, XM_047436700.1:c.503C>T, XM_047436704.1:c.476C>T, NP_803190.2:p.Pro148Leu, NP_077012.2:p.Pro148Leu, XP_011523502.2:p.Pro131Leu, XP_011523503.1:p.Pro168Leu, NP_001070142.1:p.Pro168Leu, NP_001340118.1:p.Pro159Leu, NP_001340110.1:p.Pro168Leu, NP_001340116.1:p.Pro122Leu, NP_001340120.1:p.Pro148Leu, NP_001340104.1:p.Pro148Leu, NP_001340105.1:p.Pro148Leu, NP_001340117.1:p.Pro148Leu, NP_001340113.1:p.Pro168Leu, NP_001340107.1:p.Pro148Leu, NP_001317164.1:p.Pro111Leu, NP_001340106.1:p.Pro168Leu, NP_001340109.1:p.Pro159Leu, NP_001340119.1:p.Pro148Leu, NP_001340111.1:p.Pro148Leu, XP_024306698.1:p.Pro122Leu, XP_024306697.1:p.Pro131Leu, NP_001340102.1:p.Pro148Leu, NP_001340114.1:p.Pro122Leu, NP_001340112.1:p.Pro148Leu, NP_001340103.1:p.Pro111Leu, XP_024306701.1:p.Pro111Leu, XP_047292662.1:p.Pro148Leu, XP_047292658.1:p.Pro159Leu, XP_047292661.1:p.Pro159Leu, XP_047292663.1:p.Pro148Leu, XP_047292655.1:p.Pro168Leu, XP_047292664.1:p.Pro131Leu, XP_047292659.1:p.Pro159Leu, XP_047292666.1:p.Pro111Leu, XP_047292657.1:p.Pro131Leu, XP_047292665.1:p.Pro111Leu, XP_047292656.1:p.Pro168Leu, XP_047292660.1:p.Pro159Leu

          5.

          rs1480077299 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:44189304 (GRCh38)
            17:42266672 (GRCh37)
            Canonical SPDI:
            NC_000017.11:44189303:T:C
            Gene:
            TMUB2 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency,by cluster
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            C=0.000071/1 (TOMMO)
            HGVS:
            NC_000017.11:g.44189304T>C, NC_000017.10:g.42266672T>C, NM_177441.4:c.258T>C, NM_177441.3:c.258T>C, NM_177441.2:c.258T>C, NM_024107.4:c.258T>C, NM_024107.3:c.258T>C, NM_024107.2:c.258T>C, XM_011525201.3:c.318T>C, XM_011525201.2:c.318T>C, XM_011525201.1:c.318T>C, NM_001076674.3:c.318T>C, NM_001076674.2:c.318T>C, NM_001076674.1:c.318T>C, NM_001353189.2:c.291T>C, NM_001353189.1:c.291T>C, NM_001353181.2:c.318T>C, NM_001353181.1:c.318T>C, NM_001353191.2:c.258T>C, NM_001353191.1:c.258T>C, NM_001353175.2:c.258T>C, NM_001353175.1:c.258T>C, NM_001353176.2:c.258T>C, NM_001353176.1:c.258T>C, NM_001353188.2:c.258T>C, NM_001353188.1:c.258T>C, NM_001353184.2:c.318T>C, NM_001353184.1:c.318T>C, NM_001353178.2:c.258T>C, NM_001353178.1:c.258T>C, NM_001353177.2:c.318T>C, NM_001353177.1:c.318T>C, NM_001353180.2:c.291T>C, NM_001353180.1:c.291T>C, NM_001353190.2:c.258T>C, NM_001353190.1:c.258T>C, NM_001353182.2:c.258T>C, NM_001353182.1:c.258T>C, NM_001353173.2:c.258T>C, NM_001353173.1:c.258T>C, NM_001353183.2:c.258T>C, NM_001353183.1:c.258T>C, XM_047436706.1:c.258T>C, XM_047436702.1:c.291T>C, XM_047436705.1:c.291T>C, XM_047436707.1:c.258T>C, XM_047436699.1:c.318T>C, XM_047436703.1:c.291T>C, XM_047436700.1:c.318T>C, XM_047436704.1:c.291T>C

            6.

            rs1479717268 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:44189070 (GRCh38)
              17:42266438 (GRCh37)
              Canonical SPDI:
              NC_000017.11:44189069:C:T
              Gene:
              TMUB2 (Varview)
              Functional Consequence:
              synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.000071/1 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              T=0.000014/2 (GnomAD)
              T=0.000015/4 (TOPMED)
              HGVS:
              NC_000017.11:g.44189070C>T, NC_000017.10:g.42266438C>T, NM_177441.4:c.24C>T, NM_177441.3:c.24C>T, NM_177441.2:c.24C>T, NM_024107.4:c.24C>T, NM_024107.3:c.24C>T, NM_024107.2:c.24C>T, XM_011525211.4:c.84C>T, XM_011525211.3:c.354C>T, XM_011525211.2:c.354C>T, XM_011525211.1:c.354C>T, XM_011525200.4:c.84C>T, XM_011525200.3:c.354C>T, XM_011525200.2:c.354C>T, XM_011525200.1:c.354C>T, XM_011525201.3:c.84C>T, XM_011525201.2:c.84C>T, XM_011525201.1:c.84C>T, NM_001076674.3:c.84C>T, NM_001076674.2:c.84C>T, NM_001076674.1:c.84C>T, NM_001353189.2:c.57C>T, NM_001353189.1:c.57C>T, NM_001353181.2:c.84C>T, NM_001353181.1:c.84C>T, NM_001353187.2:c.57C>T, NM_001353187.1:c.57C>T, NM_001353191.2:c.24C>T, NM_001353191.1:c.24C>T, NM_001353175.2:c.24C>T, NM_001353175.1:c.24C>T, NM_001353176.2:c.24C>T, NM_001353176.1:c.24C>T, NR_148390.2:n.677C>T, NR_148390.1:n.684C>T, NM_001353188.2:c.24C>T, NM_001353188.1:c.24C>T, NM_001353184.2:c.84C>T, NM_001353184.1:c.84C>T, NM_001353178.2:c.24C>T, NM_001353178.1:c.24C>T, NM_001330235.2:c.24C>T, NM_001330235.1:c.24C>T, NM_001353177.2:c.84C>T, NM_001353177.1:c.84C>T, NM_001353180.2:c.57C>T, NM_001353180.1:c.57C>T, NM_001353190.2:c.24C>T, NM_001353190.1:c.24C>T, NM_001353182.2:c.24C>T, NM_001353182.1:c.24C>T, NR_148387.2:n.358C>T, NR_148387.1:n.379C>T, XM_024450930.2:c.57C>T, XM_024450930.1:c.57C>T, NR_148389.2:n.445C>T, NR_148389.1:n.466C>T, XM_024450929.2:c.84C>T, XM_024450929.1:c.84C>T, NM_001353173.2:c.24C>T, NM_001353173.1:c.24C>T, NM_001353185.2:c.57C>T, NM_001353185.1:c.57C>T, NR_148388.2:n.278C>T, NR_148388.1:n.285C>T, NM_001353183.2:c.24C>T, NM_001353183.1:c.24C>T, NM_001353186.2:c.84C>T, NM_001353186.1:c.84C>T, NM_001353174.2:c.24C>T, NM_001353174.1:c.24C>T, XM_024450933.2:c.24C>T, XM_024450933.1:c.24C>T, NR_148386.2:n.187C>T, NR_148386.1:n.208C>T, XM_047436706.1:c.24C>T, XM_047436702.1:c.57C>T, XM_047436705.1:c.57C>T, XM_047436707.1:c.24C>T, XM_047436699.1:c.84C>T, XM_047436708.1:c.84C>T, XM_047436703.1:c.57C>T, XM_047436710.1:c.24C>T, XM_047436701.1:c.84C>T, XM_047436711.1:c.57C>T, XM_047436709.1:c.24C>T, XM_047436700.1:c.84C>T, XM_047436704.1:c.57C>T, XM_047436712.1:c.57C>T

              7.

              rs1472307549 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:44189350 (GRCh38)
                17:42266718 (GRCh37)
                Canonical SPDI:
                NC_000017.11:44189349:G:A
                Gene:
                TMUB2 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                A=0.000004/1 (TOPMED)
                A=0.000014/2 (GnomAD)
                HGVS:
                NC_000017.11:g.44189350G>A, NC_000017.10:g.42266718G>A, NM_177441.4:c.304G>A, NM_177441.3:c.304G>A, NM_177441.2:c.304G>A, NM_024107.4:c.304G>A, NM_024107.3:c.304G>A, NM_024107.2:c.304G>A, XM_011525201.3:c.364G>A, XM_011525201.2:c.364G>A, XM_011525201.1:c.364G>A, NM_001076674.3:c.364G>A, NM_001076674.2:c.364G>A, NM_001076674.1:c.364G>A, NM_001353189.2:c.337G>A, NM_001353189.1:c.337G>A, NM_001353181.2:c.364G>A, NM_001353181.1:c.364G>A, NM_001353191.2:c.304G>A, NM_001353191.1:c.304G>A, NM_001353175.2:c.304G>A, NM_001353175.1:c.304G>A, NM_001353176.2:c.304G>A, NM_001353176.1:c.304G>A, NM_001353188.2:c.304G>A, NM_001353188.1:c.304G>A, NM_001353184.2:c.364G>A, NM_001353184.1:c.364G>A, NM_001353178.2:c.304G>A, NM_001353178.1:c.304G>A, NM_001353177.2:c.364G>A, NM_001353177.1:c.364G>A, NM_001353180.2:c.337G>A, NM_001353180.1:c.337G>A, NM_001353190.2:c.304G>A, NM_001353190.1:c.304G>A, NM_001353182.2:c.304G>A, NM_001353182.1:c.304G>A, NM_001353173.2:c.304G>A, NM_001353173.1:c.304G>A, NM_001353183.2:c.304G>A, NM_001353183.1:c.304G>A, XM_047436706.1:c.304G>A, XM_047436702.1:c.337G>A, XM_047436705.1:c.337G>A, XM_047436707.1:c.304G>A, XM_047436699.1:c.364G>A, XM_047436703.1:c.337G>A, XM_047436700.1:c.364G>A, XM_047436704.1:c.337G>A, NP_803190.2:p.Gly102Arg, NP_077012.2:p.Gly102Arg, XP_011523503.1:p.Gly122Arg, NP_001070142.1:p.Gly122Arg, NP_001340118.1:p.Gly113Arg, NP_001340110.1:p.Gly122Arg, NP_001340120.1:p.Gly102Arg, NP_001340104.1:p.Gly102Arg, NP_001340105.1:p.Gly102Arg, NP_001340117.1:p.Gly102Arg, NP_001340113.1:p.Gly122Arg, NP_001340107.1:p.Gly102Arg, NP_001340106.1:p.Gly122Arg, NP_001340109.1:p.Gly113Arg, NP_001340119.1:p.Gly102Arg, NP_001340111.1:p.Gly102Arg, NP_001340102.1:p.Gly102Arg, NP_001340112.1:p.Gly102Arg, XP_047292662.1:p.Gly102Arg, XP_047292658.1:p.Gly113Arg, XP_047292661.1:p.Gly113Arg, XP_047292663.1:p.Gly102Arg, XP_047292655.1:p.Gly122Arg, XP_047292659.1:p.Gly113Arg, XP_047292656.1:p.Gly122Arg, XP_047292660.1:p.Gly113Arg

                8.

                rs1472091525 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  17:44189166 (GRCh38)
                  17:42266534 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:44189165:C:T
                  Gene:
                  TMUB2 (Varview)
                  Functional Consequence:
                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000017.11:g.44189166C>T, NC_000017.10:g.42266534C>T, NM_177441.4:c.120C>T, NM_177441.3:c.120C>T, NM_177441.2:c.120C>T, NM_024107.4:c.120C>T, NM_024107.3:c.120C>T, NM_024107.2:c.120C>T, XM_011525211.4:c.180C>T, XM_011525211.3:c.450C>T, XM_011525211.2:c.450C>T, XM_011525211.1:c.450C>T, XM_011525200.4:c.180C>T, XM_011525200.3:c.450C>T, XM_011525200.2:c.450C>T, XM_011525200.1:c.450C>T, XM_011525201.3:c.180C>T, XM_011525201.2:c.180C>T, XM_011525201.1:c.180C>T, NM_001076674.3:c.180C>T, NM_001076674.2:c.180C>T, NM_001076674.1:c.180C>T, NM_001353189.2:c.153C>T, NM_001353189.1:c.153C>T, NM_001353181.2:c.180C>T, NM_001353181.1:c.180C>T, NM_001353187.2:c.153C>T, NM_001353187.1:c.153C>T, NM_001353191.2:c.120C>T, NM_001353191.1:c.120C>T, NM_001353175.2:c.120C>T, NM_001353175.1:c.120C>T, NM_001353176.2:c.120C>T, NM_001353176.1:c.120C>T, NR_148390.2:n.773C>T, NR_148390.1:n.780C>T, NM_001353188.2:c.120C>T, NM_001353188.1:c.120C>T, NM_001353184.2:c.180C>T, NM_001353184.1:c.180C>T, NM_001353178.2:c.120C>T, NM_001353178.1:c.120C>T, NM_001330235.2:c.120C>T, NM_001330235.1:c.120C>T, NM_001353177.2:c.180C>T, NM_001353177.1:c.180C>T, NM_001353180.2:c.153C>T, NM_001353180.1:c.153C>T, NM_001353190.2:c.120C>T, NM_001353190.1:c.120C>T, NM_001353182.2:c.120C>T, NM_001353182.1:c.120C>T, NR_148387.2:n.454C>T, NR_148387.1:n.475C>T, XM_024450930.2:c.153C>T, XM_024450930.1:c.153C>T, NR_148389.2:n.541C>T, NR_148389.1:n.562C>T, XM_024450929.2:c.180C>T, XM_024450929.1:c.180C>T, NM_001353173.2:c.120C>T, NM_001353173.1:c.120C>T, NM_001353185.2:c.153C>T, NM_001353185.1:c.153C>T, NR_148388.2:n.374C>T, NR_148388.1:n.381C>T, NM_001353183.2:c.120C>T, NM_001353183.1:c.120C>T, NM_001353186.2:c.180C>T, NM_001353186.1:c.180C>T, NM_001353174.2:c.120C>T, NM_001353174.1:c.120C>T, XM_024450933.2:c.120C>T, XM_024450933.1:c.120C>T, NR_148386.2:n.283C>T, NR_148386.1:n.304C>T, XM_047436706.1:c.120C>T, XM_047436702.1:c.153C>T, XM_047436705.1:c.153C>T, XM_047436707.1:c.120C>T, XM_047436699.1:c.180C>T, XM_047436708.1:c.180C>T, XM_047436703.1:c.153C>T, XM_047436710.1:c.120C>T, XM_047436701.1:c.180C>T, XM_047436711.1:c.153C>T, XM_047436709.1:c.120C>T, XM_047436700.1:c.180C>T, XM_047436704.1:c.153C>T, XM_047436712.1:c.153C>T

                  9.

                  rs1468855314 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    17:44190664 (GRCh38)
                    17:42268032 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:44190663:T:C
                    Gene:
                    TMUB2 (Varview)
                    Functional Consequence:
                    synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000012/3 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.44190664T>C, NC_000017.10:g.42268032T>C, NM_177441.4:c.706T>C, NM_177441.3:c.706T>C, NM_177441.2:c.706T>C, NM_024107.4:c.706T>C, NM_024107.3:c.706T>C, NM_024107.2:c.706T>C, XM_011525211.4:c.*132T>C, XM_011525211.3:c.*132T>C, XM_011525211.2:c.*132T>C, XM_011525200.4:c.655T>C, XM_011525200.3:c.925T>C, XM_011525200.2:c.925T>C, XM_011525200.1:c.925T>C, XM_011525201.3:c.766T>C, XM_011525201.2:c.766T>C, XM_011525201.1:c.766T>C, NM_001076674.3:c.766T>C, NM_001076674.2:c.766T>C, NM_001076674.1:c.766T>C, NM_001353189.2:c.739T>C, NM_001353189.1:c.739T>C, NM_001353181.2:c.766T>C, NM_001353181.1:c.766T>C, NM_001353187.2:c.628T>C, NM_001353187.1:c.628T>C, NM_001353191.2:c.706T>C, NM_001353191.1:c.706T>C, NM_001353175.2:c.706T>C, NM_001353175.1:c.706T>C, NM_001353176.2:c.706T>C, NM_001353176.1:c.706T>C, NR_148390.2:n.1070T>C, NR_148390.1:n.1077T>C, NM_001353188.2:c.706T>C, NM_001353188.1:c.706T>C, NM_001353184.2:c.766T>C, NM_001353184.1:c.766T>C, NM_001353178.2:c.706T>C, NM_001353178.1:c.706T>C, NM_001330235.2:c.595T>C, NM_001330235.1:c.595T>C, NM_001353177.2:c.766T>C, NM_001353177.1:c.766T>C, NM_001353180.2:c.739T>C, NM_001353180.1:c.739T>C, NM_001353190.2:c.706T>C, NM_001353190.1:c.706T>C, NM_001353182.2:c.706T>C, NM_001353182.1:c.706T>C, NR_148387.2:n.916T>C, NR_148387.1:n.937T>C, XM_024450930.2:c.628T>C, XM_024450930.1:c.628T>C, NR_148389.2:n.838T>C, NR_148389.1:n.859T>C, XM_024450929.2:c.655T>C, XM_024450929.1:c.655T>C, NM_001353173.2:c.706T>C, NM_001353173.1:c.706T>C, NM_001353185.2:c.628T>C, NM_001353185.1:c.628T>C, NR_148388.2:n.671T>C, NR_148388.1:n.678T>C, NM_001353183.2:c.706T>C, NM_001353183.1:c.706T>C, NM_001353186.2:c.*132T>C, NM_001353186.1:c.*132T>C, NM_001353174.2:c.595T>C, NM_001353174.1:c.595T>C, XM_024450933.2:c.595T>C, XM_024450933.1:c.595T>C, NR_148386.2:n.580T>C, NR_148386.1:n.601T>C, XM_047436706.1:c.706T>C, XM_047436702.1:c.739T>C, XM_047436705.1:c.739T>C, XM_047436707.1:c.706T>C, XM_047436699.1:c.766T>C, XM_047436708.1:c.655T>C, XM_047436703.1:c.739T>C, XM_047436710.1:c.595T>C, XM_047436701.1:c.655T>C, XM_047436711.1:c.*132T>C, XM_047436709.1:c.595T>C, XM_047436700.1:c.766T>C, XM_047436704.1:c.739T>C, XM_047436712.1:c.*132T>C

                    10.

                    rs1462256402 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:44189449 (GRCh38)
                      17:42266817 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:44189448:C:T
                      Gene:
                      TMUB2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.44189449C>T, NC_000017.10:g.42266817C>T, NM_177441.4:c.403C>T, NM_177441.3:c.403C>T, NM_177441.2:c.403C>T, NM_024107.4:c.403C>T, NM_024107.3:c.403C>T, NM_024107.2:c.403C>T, XM_011525200.4:c.352C>T, XM_011525200.3:c.622C>T, XM_011525200.2:c.622C>T, XM_011525200.1:c.622C>T, XM_011525201.3:c.463C>T, XM_011525201.2:c.463C>T, XM_011525201.1:c.463C>T, NM_001076674.3:c.463C>T, NM_001076674.2:c.463C>T, NM_001076674.1:c.463C>T, NM_001353189.2:c.436C>T, NM_001353189.1:c.436C>T, NM_001353181.2:c.463C>T, NM_001353181.1:c.463C>T, NM_001353187.2:c.325C>T, NM_001353187.1:c.325C>T, NM_001353191.2:c.403C>T, NM_001353191.1:c.403C>T, NM_001353175.2:c.403C>T, NM_001353175.1:c.403C>T, NM_001353176.2:c.403C>T, NM_001353176.1:c.403C>T, NM_001353188.2:c.403C>T, NM_001353188.1:c.403C>T, NM_001353184.2:c.463C>T, NM_001353184.1:c.463C>T, NM_001353178.2:c.403C>T, NM_001353178.1:c.403C>T, NM_001330235.2:c.292C>T, NM_001330235.1:c.292C>T, NM_001353177.2:c.463C>T, NM_001353177.1:c.463C>T, NM_001353180.2:c.436C>T, NM_001353180.1:c.436C>T, NM_001353190.2:c.403C>T, NM_001353190.1:c.403C>T, NM_001353182.2:c.403C>T, NM_001353182.1:c.403C>T, NR_148387.2:n.613C>T, NR_148387.1:n.634C>T, XM_024450930.2:c.325C>T, XM_024450930.1:c.325C>T, XM_024450929.2:c.352C>T, XM_024450929.1:c.352C>T, NM_001353173.2:c.403C>T, NM_001353173.1:c.403C>T, NM_001353185.2:c.325C>T, NM_001353185.1:c.325C>T, NM_001353183.2:c.403C>T, NM_001353183.1:c.403C>T, NM_001353174.2:c.292C>T, NM_001353174.1:c.292C>T, XM_024450933.2:c.292C>T, XM_024450933.1:c.292C>T, XM_047436706.1:c.403C>T, XM_047436702.1:c.436C>T, XM_047436705.1:c.436C>T, XM_047436707.1:c.403C>T, XM_047436699.1:c.463C>T, XM_047436708.1:c.352C>T, XM_047436703.1:c.436C>T, XM_047436710.1:c.292C>T, XM_047436701.1:c.352C>T, XM_047436709.1:c.292C>T, XM_047436700.1:c.463C>T, XM_047436704.1:c.436C>T, NP_803190.2:p.Pro135Ser, NP_077012.2:p.Pro135Ser, XP_011523502.2:p.Pro118Ser, XP_011523503.1:p.Pro155Ser, NP_001070142.1:p.Pro155Ser, NP_001340118.1:p.Pro146Ser, NP_001340110.1:p.Pro155Ser, NP_001340116.1:p.Pro109Ser, NP_001340120.1:p.Pro135Ser, NP_001340104.1:p.Pro135Ser, NP_001340105.1:p.Pro135Ser, NP_001340117.1:p.Pro135Ser, NP_001340113.1:p.Pro155Ser, NP_001340107.1:p.Pro135Ser, NP_001317164.1:p.Pro98Ser, NP_001340106.1:p.Pro155Ser, NP_001340109.1:p.Pro146Ser, NP_001340119.1:p.Pro135Ser, NP_001340111.1:p.Pro135Ser, XP_024306698.1:p.Pro109Ser, XP_024306697.1:p.Pro118Ser, NP_001340102.1:p.Pro135Ser, NP_001340114.1:p.Pro109Ser, NP_001340112.1:p.Pro135Ser, NP_001340103.1:p.Pro98Ser, XP_024306701.1:p.Pro98Ser, XP_047292662.1:p.Pro135Ser, XP_047292658.1:p.Pro146Ser, XP_047292661.1:p.Pro146Ser, XP_047292663.1:p.Pro135Ser, XP_047292655.1:p.Pro155Ser, XP_047292664.1:p.Pro118Ser, XP_047292659.1:p.Pro146Ser, XP_047292666.1:p.Pro98Ser, XP_047292657.1:p.Pro118Ser, XP_047292665.1:p.Pro98Ser, XP_047292656.1:p.Pro155Ser, XP_047292660.1:p.Pro146Ser

                      11.

                      rs1460306959 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:44189226 (GRCh38)
                        17:42266594 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:44189225:C:T
                        Gene:
                        TMUB2 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency
                        MAF:
                        T=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.44189226C>T, NC_000017.10:g.42266594C>T, NM_177441.4:c.180C>T, NM_177441.3:c.180C>T, NM_177441.2:c.180C>T, NM_024107.4:c.180C>T, NM_024107.3:c.180C>T, NM_024107.2:c.180C>T, XM_011525211.4:c.240C>T, XM_011525211.3:c.510C>T, XM_011525211.2:c.510C>T, XM_011525211.1:c.510C>T, XM_011525200.4:c.240C>T, XM_011525200.3:c.510C>T, XM_011525200.2:c.510C>T, XM_011525200.1:c.510C>T, XM_011525201.3:c.240C>T, XM_011525201.2:c.240C>T, XM_011525201.1:c.240C>T, NM_001076674.3:c.240C>T, NM_001076674.2:c.240C>T, NM_001076674.1:c.240C>T, NM_001353189.2:c.213C>T, NM_001353189.1:c.213C>T, NM_001353181.2:c.240C>T, NM_001353181.1:c.240C>T, NM_001353187.2:c.213C>T, NM_001353187.1:c.213C>T, NM_001353191.2:c.180C>T, NM_001353191.1:c.180C>T, NM_001353175.2:c.180C>T, NM_001353175.1:c.180C>T, NM_001353176.2:c.180C>T, NM_001353176.1:c.180C>T, NR_148390.2:n.833C>T, NR_148390.1:n.840C>T, NM_001353188.2:c.180C>T, NM_001353188.1:c.180C>T, NM_001353184.2:c.240C>T, NM_001353184.1:c.240C>T, NM_001353178.2:c.180C>T, NM_001353178.1:c.180C>T, NM_001330235.2:c.180C>T, NM_001330235.1:c.180C>T, NM_001353177.2:c.240C>T, NM_001353177.1:c.240C>T, NM_001353180.2:c.213C>T, NM_001353180.1:c.213C>T, NM_001353190.2:c.180C>T, NM_001353190.1:c.180C>T, NM_001353182.2:c.180C>T, NM_001353182.1:c.180C>T, NR_148387.2:n.514C>T, NR_148387.1:n.535C>T, XM_024450930.2:c.213C>T, XM_024450930.1:c.213C>T, NR_148389.2:n.601C>T, NR_148389.1:n.622C>T, XM_024450929.2:c.240C>T, XM_024450929.1:c.240C>T, NM_001353173.2:c.180C>T, NM_001353173.1:c.180C>T, NM_001353185.2:c.213C>T, NM_001353185.1:c.213C>T, NR_148388.2:n.434C>T, NR_148388.1:n.441C>T, NM_001353183.2:c.180C>T, NM_001353183.1:c.180C>T, NM_001353186.2:c.240C>T, NM_001353186.1:c.240C>T, NM_001353174.2:c.180C>T, NM_001353174.1:c.180C>T, XM_024450933.2:c.180C>T, XM_024450933.1:c.180C>T, NR_148386.2:n.343C>T, NR_148386.1:n.364C>T, XM_047436706.1:c.180C>T, XM_047436702.1:c.213C>T, XM_047436705.1:c.213C>T, XM_047436707.1:c.180C>T, XM_047436699.1:c.240C>T, XM_047436708.1:c.240C>T, XM_047436703.1:c.213C>T, XM_047436710.1:c.180C>T, XM_047436701.1:c.240C>T, XM_047436711.1:c.213C>T, XM_047436709.1:c.180C>T, XM_047436700.1:c.240C>T, XM_047436704.1:c.213C>T, XM_047436712.1:c.213C>T

                        12.

                        rs1459137420 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          17:44189365 (GRCh38)
                          17:42266733 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:44189364:G:A
                          Gene:
                          TMUB2 (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000017.11:g.44189365G>A, NC_000017.10:g.42266733G>A, NM_177441.4:c.319G>A, NM_177441.3:c.319G>A, NM_177441.2:c.319G>A, NM_024107.4:c.319G>A, NM_024107.3:c.319G>A, NM_024107.2:c.319G>A, XM_011525201.3:c.379G>A, XM_011525201.2:c.379G>A, XM_011525201.1:c.379G>A, NM_001076674.3:c.379G>A, NM_001076674.2:c.379G>A, NM_001076674.1:c.379G>A, NM_001353189.2:c.352G>A, NM_001353189.1:c.352G>A, NM_001353181.2:c.379G>A, NM_001353181.1:c.379G>A, NM_001353191.2:c.319G>A, NM_001353191.1:c.319G>A, NM_001353175.2:c.319G>A, NM_001353175.1:c.319G>A, NM_001353176.2:c.319G>A, NM_001353176.1:c.319G>A, NM_001353188.2:c.319G>A, NM_001353188.1:c.319G>A, NM_001353184.2:c.379G>A, NM_001353184.1:c.379G>A, NM_001353178.2:c.319G>A, NM_001353178.1:c.319G>A, NM_001353177.2:c.379G>A, NM_001353177.1:c.379G>A, NM_001353180.2:c.352G>A, NM_001353180.1:c.352G>A, NM_001353190.2:c.319G>A, NM_001353190.1:c.319G>A, NM_001353182.2:c.319G>A, NM_001353182.1:c.319G>A, NM_001353173.2:c.319G>A, NM_001353173.1:c.319G>A, NM_001353183.2:c.319G>A, NM_001353183.1:c.319G>A, XM_047436706.1:c.319G>A, XM_047436702.1:c.352G>A, XM_047436705.1:c.352G>A, XM_047436707.1:c.319G>A, XM_047436699.1:c.379G>A, XM_047436703.1:c.352G>A, XM_047436700.1:c.379G>A, XM_047436704.1:c.352G>A, NP_803190.2:p.Gly107Arg, NP_077012.2:p.Gly107Arg, XP_011523503.1:p.Gly127Arg, NP_001070142.1:p.Gly127Arg, NP_001340118.1:p.Gly118Arg, NP_001340110.1:p.Gly127Arg, NP_001340120.1:p.Gly107Arg, NP_001340104.1:p.Gly107Arg, NP_001340105.1:p.Gly107Arg, NP_001340117.1:p.Gly107Arg, NP_001340113.1:p.Gly127Arg, NP_001340107.1:p.Gly107Arg, NP_001340106.1:p.Gly127Arg, NP_001340109.1:p.Gly118Arg, NP_001340119.1:p.Gly107Arg, NP_001340111.1:p.Gly107Arg, NP_001340102.1:p.Gly107Arg, NP_001340112.1:p.Gly107Arg, XP_047292662.1:p.Gly107Arg, XP_047292658.1:p.Gly118Arg, XP_047292661.1:p.Gly118Arg, XP_047292663.1:p.Gly107Arg, XP_047292655.1:p.Gly127Arg, XP_047292659.1:p.Gly118Arg, XP_047292656.1:p.Gly127Arg, XP_047292660.1:p.Gly118Arg

                          13.

                          rs1454695163 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            17:44189419 (GRCh38)
                            17:42266787 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:44189418:A:G
                            Gene:
                            TMUB2 (Varview)
                            Functional Consequence:
                            intron_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            G=0.000071/1 (ALFA)
                            G=0.000004/1 (GnomAD_exomes)
                            G=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000017.11:g.44189419A>G, NC_000017.10:g.42266787A>G, NM_177441.4:c.373A>G, NM_177441.3:c.373A>G, NM_177441.2:c.373A>G, NM_024107.4:c.373A>G, NM_024107.3:c.373A>G, NM_024107.2:c.373A>G, XM_011525200.4:c.322A>G, XM_011525200.3:c.592A>G, XM_011525200.2:c.592A>G, XM_011525200.1:c.592A>G, XM_011525201.3:c.433A>G, XM_011525201.2:c.433A>G, XM_011525201.1:c.433A>G, NM_001076674.3:c.433A>G, NM_001076674.2:c.433A>G, NM_001076674.1:c.433A>G, NM_001353189.2:c.406A>G, NM_001353189.1:c.406A>G, NM_001353181.2:c.433A>G, NM_001353181.1:c.433A>G, NM_001353187.2:c.295A>G, NM_001353187.1:c.295A>G, NM_001353191.2:c.373A>G, NM_001353191.1:c.373A>G, NM_001353175.2:c.373A>G, NM_001353175.1:c.373A>G, NM_001353176.2:c.373A>G, NM_001353176.1:c.373A>G, NM_001353188.2:c.373A>G, NM_001353188.1:c.373A>G, NM_001353184.2:c.433A>G, NM_001353184.1:c.433A>G, NM_001353178.2:c.373A>G, NM_001353178.1:c.373A>G, NM_001330235.2:c.262A>G, NM_001330235.1:c.262A>G, NM_001353177.2:c.433A>G, NM_001353177.1:c.433A>G, NM_001353180.2:c.406A>G, NM_001353180.1:c.406A>G, NM_001353190.2:c.373A>G, NM_001353190.1:c.373A>G, NM_001353182.2:c.373A>G, NM_001353182.1:c.373A>G, XM_024450930.2:c.295A>G, XM_024450930.1:c.295A>G, XM_024450929.2:c.322A>G, XM_024450929.1:c.322A>G, NM_001353173.2:c.373A>G, NM_001353173.1:c.373A>G, NM_001353185.2:c.295A>G, NM_001353185.1:c.295A>G, NM_001353183.2:c.373A>G, NM_001353183.1:c.373A>G, NM_001353174.2:c.262A>G, NM_001353174.1:c.262A>G, XM_024450933.2:c.262A>G, XM_024450933.1:c.262A>G, XM_047436706.1:c.373A>G, XM_047436702.1:c.406A>G, XM_047436705.1:c.406A>G, XM_047436707.1:c.373A>G, XM_047436699.1:c.433A>G, XM_047436708.1:c.322A>G, XM_047436703.1:c.406A>G, XM_047436710.1:c.262A>G, XM_047436701.1:c.322A>G, XM_047436709.1:c.262A>G, XM_047436700.1:c.433A>G, XM_047436704.1:c.406A>G, NP_803190.2:p.Lys125Glu, NP_077012.2:p.Lys125Glu, XP_011523502.2:p.Lys108Glu, XP_011523503.1:p.Lys145Glu, NP_001070142.1:p.Lys145Glu, NP_001340118.1:p.Lys136Glu, NP_001340110.1:p.Lys145Glu, NP_001340116.1:p.Lys99Glu, NP_001340120.1:p.Lys125Glu, NP_001340104.1:p.Lys125Glu, NP_001340105.1:p.Lys125Glu, NP_001340117.1:p.Lys125Glu, NP_001340113.1:p.Lys145Glu, NP_001340107.1:p.Lys125Glu, NP_001317164.1:p.Lys88Glu, NP_001340106.1:p.Lys145Glu, NP_001340109.1:p.Lys136Glu, NP_001340119.1:p.Lys125Glu, NP_001340111.1:p.Lys125Glu, XP_024306698.1:p.Lys99Glu, XP_024306697.1:p.Lys108Glu, NP_001340102.1:p.Lys125Glu, NP_001340114.1:p.Lys99Glu, NP_001340112.1:p.Lys125Glu, NP_001340103.1:p.Lys88Glu, XP_024306701.1:p.Lys88Glu, XP_047292662.1:p.Lys125Glu, XP_047292658.1:p.Lys136Glu, XP_047292661.1:p.Lys136Glu, XP_047292663.1:p.Lys125Glu, XP_047292655.1:p.Lys145Glu, XP_047292664.1:p.Lys108Glu, XP_047292659.1:p.Lys136Glu, XP_047292666.1:p.Lys88Glu, XP_047292657.1:p.Lys108Glu, XP_047292665.1:p.Lys88Glu, XP_047292656.1:p.Lys145Glu, XP_047292660.1:p.Lys136Glu

                            14.

                            rs1452651065 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:44190863 (GRCh38)
                              17:42268231 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:44190862:A:G
                              Gene:
                              TMUB2 (Varview)
                              Functional Consequence:
                              terminator_codon_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000017.11:g.44190863A>G, NC_000017.10:g.42268231A>G, NM_177441.4:c.905A>G, NM_177441.3:c.905A>G, NM_177441.2:c.905A>G, NM_024107.4:c.905A>G, NM_024107.3:c.905A>G, NM_024107.2:c.905A>G, XM_011525211.4:c.*331A>G, XM_011525211.3:c.*331A>G, XM_011525211.2:c.*331A>G, XM_011525200.4:c.854A>G, XM_011525200.3:c.1124A>G, XM_011525200.2:c.1124A>G, XM_011525200.1:c.1124A>G, XM_011525201.3:c.965A>G, XM_011525201.2:c.965A>G, XM_011525201.1:c.965A>G, NM_001076674.3:c.965A>G, NM_001076674.2:c.965A>G, NM_001076674.1:c.965A>G, NM_001353189.2:c.938A>G, NM_001353189.1:c.938A>G, NM_001353181.2:c.965A>G, NM_001353181.1:c.965A>G, NM_001353187.2:c.827A>G, NM_001353187.1:c.827A>G, NM_001353191.2:c.905A>G, NM_001353191.1:c.905A>G, NM_001353175.2:c.905A>G, NM_001353175.1:c.905A>G, NM_001353176.2:c.905A>G, NM_001353176.1:c.905A>G, NR_148390.2:n.1269A>G, NR_148390.1:n.1276A>G, NM_001353188.2:c.905A>G, NM_001353188.1:c.905A>G, NM_001353184.2:c.965A>G, NM_001353184.1:c.965A>G, NM_001353178.2:c.905A>G, NM_001353178.1:c.905A>G, NM_001330235.2:c.794A>G, NM_001330235.1:c.794A>G, NM_001353177.2:c.965A>G, NM_001353177.1:c.965A>G, NM_001353180.2:c.938A>G, NM_001353180.1:c.938A>G, NM_001353190.2:c.905A>G, NM_001353190.1:c.905A>G, NM_001353182.2:c.905A>G, NM_001353182.1:c.905A>G, NR_148387.2:n.1115A>G, NR_148387.1:n.1136A>G, XM_024450930.2:c.827A>G, XM_024450930.1:c.827A>G, NR_148389.2:n.1037A>G, NR_148389.1:n.1058A>G, XM_024450929.2:c.854A>G, XM_024450929.1:c.854A>G, NM_001353173.2:c.905A>G, NM_001353173.1:c.905A>G, NM_001353185.2:c.827A>G, NM_001353185.1:c.827A>G, NR_148388.2:n.870A>G, NR_148388.1:n.877A>G, NM_001353183.2:c.905A>G, NM_001353183.1:c.905A>G, NM_001353186.2:c.*331A>G, NM_001353186.1:c.*331A>G, NM_001353174.2:c.794A>G, NM_001353174.1:c.794A>G, XM_024450933.2:c.794A>G, XM_024450933.1:c.794A>G, NR_148386.2:n.779A>G, NR_148386.1:n.800A>G, XM_047436706.1:c.905A>G, XM_047436702.1:c.938A>G, XM_047436705.1:c.938A>G, XM_047436707.1:c.905A>G, XM_047436699.1:c.965A>G, XM_047436708.1:c.854A>G, XM_047436703.1:c.938A>G, XM_047436710.1:c.794A>G, XM_047436701.1:c.854A>G, XM_047436711.1:c.*331A>G, XM_047436709.1:c.794A>G, XM_047436700.1:c.965A>G, XM_047436704.1:c.938A>G, XM_047436712.1:c.*331A>G

                              15.

                              rs1450756735 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:44189496 (GRCh38)
                                17:42266864 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:44189495:C:T
                                Gene:
                                TMUB2 (Varview)
                                Functional Consequence:
                                synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.44189496C>T, NC_000017.10:g.42266864C>T, NM_177441.4:c.450C>T, NM_177441.3:c.450C>T, NM_177441.2:c.450C>T, NM_024107.4:c.450C>T, NM_024107.3:c.450C>T, NM_024107.2:c.450C>T, XM_011525200.4:c.399C>T, XM_011525200.3:c.669C>T, XM_011525200.2:c.669C>T, XM_011525200.1:c.669C>T, XM_011525201.3:c.510C>T, XM_011525201.2:c.510C>T, XM_011525201.1:c.510C>T, NM_001076674.3:c.510C>T, NM_001076674.2:c.510C>T, NM_001076674.1:c.510C>T, NM_001353189.2:c.483C>T, NM_001353189.1:c.483C>T, NM_001353181.2:c.510C>T, NM_001353181.1:c.510C>T, NM_001353187.2:c.372C>T, NM_001353187.1:c.372C>T, NM_001353191.2:c.450C>T, NM_001353191.1:c.450C>T, NM_001353175.2:c.450C>T, NM_001353175.1:c.450C>T, NM_001353176.2:c.450C>T, NM_001353176.1:c.450C>T, NM_001353188.2:c.450C>T, NM_001353188.1:c.450C>T, NM_001353184.2:c.510C>T, NM_001353184.1:c.510C>T, NM_001353178.2:c.450C>T, NM_001353178.1:c.450C>T, NM_001330235.2:c.339C>T, NM_001330235.1:c.339C>T, NM_001353177.2:c.510C>T, NM_001353177.1:c.510C>T, NM_001353180.2:c.483C>T, NM_001353180.1:c.483C>T, NM_001353190.2:c.450C>T, NM_001353190.1:c.450C>T, NM_001353182.2:c.450C>T, NM_001353182.1:c.450C>T, NR_148387.2:n.660C>T, NR_148387.1:n.681C>T, XM_024450930.2:c.372C>T, XM_024450930.1:c.372C>T, XM_024450929.2:c.399C>T, XM_024450929.1:c.399C>T, NM_001353173.2:c.450C>T, NM_001353173.1:c.450C>T, NM_001353185.2:c.372C>T, NM_001353185.1:c.372C>T, NM_001353183.2:c.450C>T, NM_001353183.1:c.450C>T, NM_001353174.2:c.339C>T, NM_001353174.1:c.339C>T, XM_024450933.2:c.339C>T, XM_024450933.1:c.339C>T, XM_047436706.1:c.450C>T, XM_047436702.1:c.483C>T, XM_047436705.1:c.483C>T, XM_047436707.1:c.450C>T, XM_047436699.1:c.510C>T, XM_047436708.1:c.399C>T, XM_047436703.1:c.483C>T, XM_047436710.1:c.339C>T, XM_047436701.1:c.399C>T, XM_047436709.1:c.339C>T, XM_047436700.1:c.510C>T, XM_047436704.1:c.483C>T

                                16.

                                rs1445658598 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TGTGGTGGTGCTG>- [Show Flanks]
                                  Chromosome:
                                  17:44189109 (GRCh38)
                                  17:42266477 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:44189107:GTGTGGTGGTGCTG:G
                                  Gene:
                                  TMUB2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  -=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.44189109_44189121del, NC_000017.10:g.42266477_42266489del, NM_177441.4:c.63_75del, NM_177441.3:c.63_75del, NM_177441.2:c.63_75del, NM_024107.4:c.63_75del, NM_024107.3:c.63_75del, NM_024107.2:c.63_75del, XM_011525211.4:c.123_135del, XM_011525211.3:c.393_405del, XM_011525211.2:c.393_405del, XM_011525211.1:c.393_405del, XM_011525200.4:c.123_135del, XM_011525200.3:c.393_405del, XM_011525200.2:c.393_405del, XM_011525200.1:c.393_405del, XM_011525201.3:c.123_135del, XM_011525201.2:c.123_135del, XM_011525201.1:c.123_135del, NM_001076674.3:c.123_135del, NM_001076674.2:c.123_135del, NM_001076674.1:c.123_135del, NM_001353189.2:c.96_108del, NM_001353189.1:c.96_108del, NM_001353181.2:c.123_135del, NM_001353181.1:c.123_135del, NM_001353187.2:c.96_108del, NM_001353187.1:c.96_108del, NM_001353191.2:c.63_75del, NM_001353191.1:c.63_75del, NM_001353175.2:c.63_75del, NM_001353175.1:c.63_75del, NM_001353176.2:c.63_75del, NM_001353176.1:c.63_75del, NR_148390.2:n.716_728del, NR_148390.1:n.723_735del, NM_001353188.2:c.63_75del, NM_001353188.1:c.63_75del, NM_001353184.2:c.123_135del, NM_001353184.1:c.123_135del, NM_001353178.2:c.63_75del, NM_001353178.1:c.63_75del, NM_001330235.2:c.63_75del, NM_001330235.1:c.63_75del, NM_001353177.2:c.123_135del, NM_001353177.1:c.123_135del, NM_001353180.2:c.96_108del, NM_001353180.1:c.96_108del, NM_001353190.2:c.63_75del, NM_001353190.1:c.63_75del, NM_001353182.2:c.63_75del, NM_001353182.1:c.63_75del, NR_148387.2:n.397_409del, NR_148387.1:n.418_430del, XM_024450930.2:c.96_108del, XM_024450930.1:c.96_108del, NR_148389.2:n.484_496del, NR_148389.1:n.505_517del, XM_024450929.2:c.123_135del, XM_024450929.1:c.123_135del, NM_001353173.2:c.63_75del, NM_001353173.1:c.63_75del, NM_001353185.2:c.96_108del, NM_001353185.1:c.96_108del, NR_148388.2:n.317_329del, NR_148388.1:n.324_336del, NM_001353183.2:c.63_75del, NM_001353183.1:c.63_75del, NM_001353186.2:c.123_135del, NM_001353186.1:c.123_135del, NM_001353174.2:c.63_75del, NM_001353174.1:c.63_75del, XM_024450933.2:c.63_75del, XM_024450933.1:c.63_75del, NR_148386.2:n.226_238del, NR_148386.1:n.247_259del, XM_047436706.1:c.63_75del, XM_047436702.1:c.96_108del, XM_047436705.1:c.96_108del, XM_047436707.1:c.63_75del, XM_047436699.1:c.123_135del, XM_047436708.1:c.123_135del, XM_047436703.1:c.96_108del, XM_047436710.1:c.63_75del, XM_047436701.1:c.123_135del, XM_047436711.1:c.96_108del, XM_047436709.1:c.63_75del, XM_047436700.1:c.123_135del, XM_047436704.1:c.96_108del, XM_047436712.1:c.96_108del, NP_803190.2:p.Val22fs, NP_077012.2:p.Val22fs, XP_011523513.2:p.Val42fs, XP_011523502.2:p.Val42fs, XP_011523503.1:p.Val42fs, NP_001070142.1:p.Val42fs, NP_001340118.1:p.Val33fs, NP_001340110.1:p.Val42fs, NP_001340116.1:p.Val33fs, NP_001340120.1:p.Val22fs, NP_001340104.1:p.Val22fs, NP_001340105.1:p.Val22fs, NP_001340117.1:p.Val22fs, NP_001340113.1:p.Val42fs, NP_001340107.1:p.Val22fs, NP_001317164.1:p.Val22fs, NP_001340106.1:p.Val42fs, NP_001340109.1:p.Val33fs, NP_001340119.1:p.Val22fs, NP_001340111.1:p.Val22fs, XP_024306698.1:p.Val33fs, XP_024306697.1:p.Val42fs, NP_001340102.1:p.Val22fs, NP_001340114.1:p.Val33fs, NP_001340112.1:p.Val22fs, NP_001340115.1:p.Val42fs, NP_001340103.1:p.Val22fs, XP_024306701.1:p.Val22fs, XP_047292662.1:p.Val22fs, XP_047292658.1:p.Val33fs, XP_047292661.1:p.Val33fs, XP_047292663.1:p.Val22fs, XP_047292655.1:p.Val42fs, XP_047292664.1:p.Val42fs, XP_047292659.1:p.Val33fs, XP_047292666.1:p.Val22fs, XP_047292657.1:p.Val42fs, XP_047292667.1:p.Val33fs, XP_047292665.1:p.Val22fs, XP_047292656.1:p.Val42fs, XP_047292660.1:p.Val33fs, XP_047292668.1:p.Val33fs

                                  17.

                                  rs1445423734 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:44189158 (GRCh38)
                                    17:42266526 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:44189157:G:A
                                    Gene:
                                    TMUB2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0./0 (GnomAD)
                                    A=0.000008/2 (GnomAD_exomes)
                                    A=0.000342/1 (KOREAN)
                                    A=0.000354/6 (TOMMO)
                                    HGVS:
                                    NC_000017.11:g.44189158G>A, NC_000017.10:g.42266526G>A, NM_177441.4:c.112G>A, NM_177441.3:c.112G>A, NM_177441.2:c.112G>A, NM_024107.4:c.112G>A, NM_024107.3:c.112G>A, NM_024107.2:c.112G>A, XM_011525211.4:c.172G>A, XM_011525211.3:c.442G>A, XM_011525211.2:c.442G>A, XM_011525211.1:c.442G>A, XM_011525200.4:c.172G>A, XM_011525200.3:c.442G>A, XM_011525200.2:c.442G>A, XM_011525200.1:c.442G>A, XM_011525201.3:c.172G>A, XM_011525201.2:c.172G>A, XM_011525201.1:c.172G>A, NM_001076674.3:c.172G>A, NM_001076674.2:c.172G>A, NM_001076674.1:c.172G>A, NM_001353189.2:c.145G>A, NM_001353189.1:c.145G>A, NM_001353181.2:c.172G>A, NM_001353181.1:c.172G>A, NM_001353187.2:c.145G>A, NM_001353187.1:c.145G>A, NM_001353191.2:c.112G>A, NM_001353191.1:c.112G>A, NM_001353175.2:c.112G>A, NM_001353175.1:c.112G>A, NM_001353176.2:c.112G>A, NM_001353176.1:c.112G>A, NR_148390.2:n.765G>A, NR_148390.1:n.772G>A, NM_001353188.2:c.112G>A, NM_001353188.1:c.112G>A, NM_001353184.2:c.172G>A, NM_001353184.1:c.172G>A, NM_001353178.2:c.112G>A, NM_001353178.1:c.112G>A, NM_001330235.2:c.112G>A, NM_001330235.1:c.112G>A, NM_001353177.2:c.172G>A, NM_001353177.1:c.172G>A, NM_001353180.2:c.145G>A, NM_001353180.1:c.145G>A, NM_001353190.2:c.112G>A, NM_001353190.1:c.112G>A, NM_001353182.2:c.112G>A, NM_001353182.1:c.112G>A, NR_148387.2:n.446G>A, NR_148387.1:n.467G>A, XM_024450930.2:c.145G>A, XM_024450930.1:c.145G>A, NR_148389.2:n.533G>A, NR_148389.1:n.554G>A, XM_024450929.2:c.172G>A, XM_024450929.1:c.172G>A, NM_001353173.2:c.112G>A, NM_001353173.1:c.112G>A, NM_001353185.2:c.145G>A, NM_001353185.1:c.145G>A, NR_148388.2:n.366G>A, NR_148388.1:n.373G>A, NM_001353183.2:c.112G>A, NM_001353183.1:c.112G>A, NM_001353186.2:c.172G>A, NM_001353186.1:c.172G>A, NM_001353174.2:c.112G>A, NM_001353174.1:c.112G>A, XM_024450933.2:c.112G>A, XM_024450933.1:c.112G>A, NR_148386.2:n.275G>A, NR_148386.1:n.296G>A, XM_047436706.1:c.112G>A, XM_047436702.1:c.145G>A, XM_047436705.1:c.145G>A, XM_047436707.1:c.112G>A, XM_047436699.1:c.172G>A, XM_047436708.1:c.172G>A, XM_047436703.1:c.145G>A, XM_047436710.1:c.112G>A, XM_047436701.1:c.172G>A, XM_047436711.1:c.145G>A, XM_047436709.1:c.112G>A, XM_047436700.1:c.172G>A, XM_047436704.1:c.145G>A, XM_047436712.1:c.145G>A, NP_803190.2:p.Val38Ile, NP_077012.2:p.Val38Ile, XP_011523513.2:p.Val58Ile, XP_011523502.2:p.Val58Ile, XP_011523503.1:p.Val58Ile, NP_001070142.1:p.Val58Ile, NP_001340118.1:p.Val49Ile, NP_001340110.1:p.Val58Ile, NP_001340116.1:p.Val49Ile, NP_001340120.1:p.Val38Ile, NP_001340104.1:p.Val38Ile, NP_001340105.1:p.Val38Ile, NP_001340117.1:p.Val38Ile, NP_001340113.1:p.Val58Ile, NP_001340107.1:p.Val38Ile, NP_001317164.1:p.Val38Ile, NP_001340106.1:p.Val58Ile, NP_001340109.1:p.Val49Ile, NP_001340119.1:p.Val38Ile, NP_001340111.1:p.Val38Ile, XP_024306698.1:p.Val49Ile, XP_024306697.1:p.Val58Ile, NP_001340102.1:p.Val38Ile, NP_001340114.1:p.Val49Ile, NP_001340112.1:p.Val38Ile, NP_001340115.1:p.Val58Ile, NP_001340103.1:p.Val38Ile, XP_024306701.1:p.Val38Ile, XP_047292662.1:p.Val38Ile, XP_047292658.1:p.Val49Ile, XP_047292661.1:p.Val49Ile, XP_047292663.1:p.Val38Ile, XP_047292655.1:p.Val58Ile, XP_047292664.1:p.Val58Ile, XP_047292659.1:p.Val49Ile, XP_047292666.1:p.Val38Ile, XP_047292657.1:p.Val58Ile, XP_047292667.1:p.Val49Ile, XP_047292665.1:p.Val38Ile, XP_047292656.1:p.Val58Ile, XP_047292660.1:p.Val49Ile, XP_047292668.1:p.Val49Ile

                                    18.

                                    rs1439627040 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      17:44189239 (GRCh38)
                                      17:42266607 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:44189238:G:C
                                      Gene:
                                      TMUB2 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.44189239G>C, NC_000017.10:g.42266607G>C, NM_177441.4:c.193G>C, NM_177441.3:c.193G>C, NM_177441.2:c.193G>C, NM_024107.4:c.193G>C, NM_024107.3:c.193G>C, NM_024107.2:c.193G>C, XM_011525211.4:c.253G>C, XM_011525211.3:c.523G>C, XM_011525211.2:c.523G>C, XM_011525211.1:c.523G>C, XM_011525200.4:c.253G>C, XM_011525200.3:c.523G>C, XM_011525200.2:c.523G>C, XM_011525200.1:c.523G>C, XM_011525201.3:c.253G>C, XM_011525201.2:c.253G>C, XM_011525201.1:c.253G>C, NM_001076674.3:c.253G>C, NM_001076674.2:c.253G>C, NM_001076674.1:c.253G>C, NM_001353189.2:c.226G>C, NM_001353189.1:c.226G>C, NM_001353181.2:c.253G>C, NM_001353181.1:c.253G>C, NM_001353187.2:c.226G>C, NM_001353187.1:c.226G>C, NM_001353191.2:c.193G>C, NM_001353191.1:c.193G>C, NM_001353175.2:c.193G>C, NM_001353175.1:c.193G>C, NM_001353176.2:c.193G>C, NM_001353176.1:c.193G>C, NR_148390.2:n.846G>C, NR_148390.1:n.853G>C, NM_001353188.2:c.193G>C, NM_001353188.1:c.193G>C, NM_001353184.2:c.253G>C, NM_001353184.1:c.253G>C, NM_001353178.2:c.193G>C, NM_001353178.1:c.193G>C, NM_001330235.2:c.193G>C, NM_001330235.1:c.193G>C, NM_001353177.2:c.253G>C, NM_001353177.1:c.253G>C, NM_001353180.2:c.226G>C, NM_001353180.1:c.226G>C, NM_001353190.2:c.193G>C, NM_001353190.1:c.193G>C, NM_001353182.2:c.193G>C, NM_001353182.1:c.193G>C, NR_148387.2:n.527G>C, NR_148387.1:n.548G>C, XM_024450930.2:c.226G>C, XM_024450930.1:c.226G>C, NR_148389.2:n.614G>C, NR_148389.1:n.635G>C, XM_024450929.2:c.253G>C, XM_024450929.1:c.253G>C, NM_001353173.2:c.193G>C, NM_001353173.1:c.193G>C, NM_001353185.2:c.226G>C, NM_001353185.1:c.226G>C, NR_148388.2:n.447G>C, NR_148388.1:n.454G>C, NM_001353183.2:c.193G>C, NM_001353183.1:c.193G>C, NM_001353186.2:c.253G>C, NM_001353186.1:c.253G>C, NM_001353174.2:c.193G>C, NM_001353174.1:c.193G>C, XM_024450933.2:c.193G>C, XM_024450933.1:c.193G>C, NR_148386.2:n.356G>C, NR_148386.1:n.377G>C, XM_047436706.1:c.193G>C, XM_047436702.1:c.226G>C, XM_047436705.1:c.226G>C, XM_047436707.1:c.193G>C, XM_047436699.1:c.253G>C, XM_047436708.1:c.253G>C, XM_047436703.1:c.226G>C, XM_047436710.1:c.193G>C, XM_047436701.1:c.253G>C, XM_047436711.1:c.226G>C, XM_047436709.1:c.193G>C, XM_047436700.1:c.253G>C, XM_047436704.1:c.226G>C, XM_047436712.1:c.226G>C, NP_803190.2:p.Asp65His, NP_077012.2:p.Asp65His, XP_011523513.2:p.Asp85His, XP_011523502.2:p.Asp85His, XP_011523503.1:p.Asp85His, NP_001070142.1:p.Asp85His, NP_001340118.1:p.Asp76His, NP_001340110.1:p.Asp85His, NP_001340116.1:p.Asp76His, NP_001340120.1:p.Asp65His, NP_001340104.1:p.Asp65His, NP_001340105.1:p.Asp65His, NP_001340117.1:p.Asp65His, NP_001340113.1:p.Asp85His, NP_001340107.1:p.Asp65His, NP_001317164.1:p.Asp65His, NP_001340106.1:p.Asp85His, NP_001340109.1:p.Asp76His, NP_001340119.1:p.Asp65His, NP_001340111.1:p.Asp65His, XP_024306698.1:p.Asp76His, XP_024306697.1:p.Asp85His, NP_001340102.1:p.Asp65His, NP_001340114.1:p.Asp76His, NP_001340112.1:p.Asp65His, NP_001340115.1:p.Asp85His, NP_001340103.1:p.Asp65His, XP_024306701.1:p.Asp65His, XP_047292662.1:p.Asp65His, XP_047292658.1:p.Asp76His, XP_047292661.1:p.Asp76His, XP_047292663.1:p.Asp65His, XP_047292655.1:p.Asp85His, XP_047292664.1:p.Asp85His, XP_047292659.1:p.Asp76His, XP_047292666.1:p.Asp65His, XP_047292657.1:p.Asp85His, XP_047292667.1:p.Asp76His, XP_047292665.1:p.Asp65His, XP_047292656.1:p.Asp85His, XP_047292660.1:p.Asp76His, XP_047292668.1:p.Asp76His

                                      19.

                                      rs1437762005 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        17:44189151 (GRCh38)
                                        17:42266519 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:44189150:T:C
                                        Gene:
                                        TMUB2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000008/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000017.11:g.44189151T>C, NC_000017.10:g.42266519T>C, NM_177441.4:c.105T>C, NM_177441.3:c.105T>C, NM_177441.2:c.105T>C, NM_024107.4:c.105T>C, NM_024107.3:c.105T>C, NM_024107.2:c.105T>C, XM_011525211.4:c.165T>C, XM_011525211.3:c.435T>C, XM_011525211.2:c.435T>C, XM_011525211.1:c.435T>C, XM_011525200.4:c.165T>C, XM_011525200.3:c.435T>C, XM_011525200.2:c.435T>C, XM_011525200.1:c.435T>C, XM_011525201.3:c.165T>C, XM_011525201.2:c.165T>C, XM_011525201.1:c.165T>C, NM_001076674.3:c.165T>C, NM_001076674.2:c.165T>C, NM_001076674.1:c.165T>C, NM_001353189.2:c.138T>C, NM_001353189.1:c.138T>C, NM_001353181.2:c.165T>C, NM_001353181.1:c.165T>C, NM_001353187.2:c.138T>C, NM_001353187.1:c.138T>C, NM_001353191.2:c.105T>C, NM_001353191.1:c.105T>C, NM_001353175.2:c.105T>C, NM_001353175.1:c.105T>C, NM_001353176.2:c.105T>C, NM_001353176.1:c.105T>C, NR_148390.2:n.758T>C, NR_148390.1:n.765T>C, NM_001353188.2:c.105T>C, NM_001353188.1:c.105T>C, NM_001353184.2:c.165T>C, NM_001353184.1:c.165T>C, NM_001353178.2:c.105T>C, NM_001353178.1:c.105T>C, NM_001330235.2:c.105T>C, NM_001330235.1:c.105T>C, NM_001353177.2:c.165T>C, NM_001353177.1:c.165T>C, NM_001353180.2:c.138T>C, NM_001353180.1:c.138T>C, NM_001353190.2:c.105T>C, NM_001353190.1:c.105T>C, NM_001353182.2:c.105T>C, NM_001353182.1:c.105T>C, NR_148387.2:n.439T>C, NR_148387.1:n.460T>C, XM_024450930.2:c.138T>C, XM_024450930.1:c.138T>C, NR_148389.2:n.526T>C, NR_148389.1:n.547T>C, XM_024450929.2:c.165T>C, XM_024450929.1:c.165T>C, NM_001353173.2:c.105T>C, NM_001353173.1:c.105T>C, NM_001353185.2:c.138T>C, NM_001353185.1:c.138T>C, NR_148388.2:n.359T>C, NR_148388.1:n.366T>C, NM_001353183.2:c.105T>C, NM_001353183.1:c.105T>C, NM_001353186.2:c.165T>C, NM_001353186.1:c.165T>C, NM_001353174.2:c.105T>C, NM_001353174.1:c.105T>C, XM_024450933.2:c.105T>C, XM_024450933.1:c.105T>C, NR_148386.2:n.268T>C, NR_148386.1:n.289T>C, XM_047436706.1:c.105T>C, XM_047436702.1:c.138T>C, XM_047436705.1:c.138T>C, XM_047436707.1:c.105T>C, XM_047436699.1:c.165T>C, XM_047436708.1:c.165T>C, XM_047436703.1:c.138T>C, XM_047436710.1:c.105T>C, XM_047436701.1:c.165T>C, XM_047436711.1:c.138T>C, XM_047436709.1:c.105T>C, XM_047436700.1:c.165T>C, XM_047436704.1:c.138T>C, XM_047436712.1:c.138T>C

                                        20.

                                        rs1434621245 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          17:44189305 (GRCh38)
                                          17:42266673 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:44189304:G:C
                                          Gene:
                                          TMUB2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (TOPMED)
                                          C=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000017.11:g.44189305G>C, NC_000017.10:g.42266673G>C, NM_177441.4:c.259G>C, NM_177441.3:c.259G>C, NM_177441.2:c.259G>C, NM_024107.4:c.259G>C, NM_024107.3:c.259G>C, NM_024107.2:c.259G>C, XM_011525201.3:c.319G>C, XM_011525201.2:c.319G>C, XM_011525201.1:c.319G>C, NM_001076674.3:c.319G>C, NM_001076674.2:c.319G>C, NM_001076674.1:c.319G>C, NM_001353189.2:c.292G>C, NM_001353189.1:c.292G>C, NM_001353181.2:c.319G>C, NM_001353181.1:c.319G>C, NM_001353191.2:c.259G>C, NM_001353191.1:c.259G>C, NM_001353175.2:c.259G>C, NM_001353175.1:c.259G>C, NM_001353176.2:c.259G>C, NM_001353176.1:c.259G>C, NM_001353188.2:c.259G>C, NM_001353188.1:c.259G>C, NM_001353184.2:c.319G>C, NM_001353184.1:c.319G>C, NM_001353178.2:c.259G>C, NM_001353178.1:c.259G>C, NM_001353177.2:c.319G>C, NM_001353177.1:c.319G>C, NM_001353180.2:c.292G>C, NM_001353180.1:c.292G>C, NM_001353190.2:c.259G>C, NM_001353190.1:c.259G>C, NM_001353182.2:c.259G>C, NM_001353182.1:c.259G>C, NM_001353173.2:c.259G>C, NM_001353173.1:c.259G>C, NM_001353183.2:c.259G>C, NM_001353183.1:c.259G>C, XM_047436706.1:c.259G>C, XM_047436702.1:c.292G>C, XM_047436705.1:c.292G>C, XM_047436707.1:c.259G>C, XM_047436699.1:c.319G>C, XM_047436703.1:c.292G>C, XM_047436700.1:c.319G>C, XM_047436704.1:c.292G>C, NP_803190.2:p.Asp87His, NP_077012.2:p.Asp87His, XP_011523503.1:p.Asp107His, NP_001070142.1:p.Asp107His, NP_001340118.1:p.Asp98His, NP_001340110.1:p.Asp107His, NP_001340120.1:p.Asp87His, NP_001340104.1:p.Asp87His, NP_001340105.1:p.Asp87His, NP_001340117.1:p.Asp87His, NP_001340113.1:p.Asp107His, NP_001340107.1:p.Asp87His, NP_001340106.1:p.Asp107His, NP_001340109.1:p.Asp98His, NP_001340119.1:p.Asp87His, NP_001340111.1:p.Asp87His, NP_001340102.1:p.Asp87His, NP_001340112.1:p.Asp87His, XP_047292662.1:p.Asp87His, XP_047292658.1:p.Asp98His, XP_047292661.1:p.Asp98His, XP_047292663.1:p.Asp87His, XP_047292655.1:p.Asp107His, XP_047292659.1:p.Asp98His, XP_047292656.1:p.Asp107His, XP_047292660.1:p.Asp98His

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