U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1318

1.

rs1490804510 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:75494948 (GRCh38)
    17:73491029 (GRCh37)
    Canonical SPDI:
    NC_000017.11:75494947:T:C
    Gene:
    TMEM94 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000017.11:g.75494948T>C, NC_000017.10:g.73491029T>C, NG_054884.1:g.58790T>C, NM_014738.6:c.2642T>C, NM_014738.5:c.2642T>C, NM_014738.4:c.2642T>C, NM_001321149.2:c.2654T>C, NM_001321149.1:c.2654T>C, NM_001321148.2:c.2672T>C, NM_001321148.1:c.2672T>C, NM_001351203.2:c.2669T>C, NM_001351203.1:c.2669T>C, NM_001351202.2:c.2594T>C, NM_001351202.1:c.2594T>C, XM_011525514.3:c.2684T>C, XM_011525514.2:c.2684T>C, XM_011525514.1:c.2684T>C, XM_017025440.3:c.2642T>C, XM_017025440.2:c.2642T>C, XM_017025440.1:c.2642T>C, XM_005257864.3:c.2684T>C, XM_005257864.2:c.2684T>C, XM_005257864.1:c.2684T>C, XM_017025433.2:c.2714T>C, XM_017025433.1:c.2714T>C, XM_017025434.2:c.2711T>C, XM_017025434.1:c.2711T>C, XM_017025435.2:c.2702T>C, XM_017025435.1:c.2702T>C, XM_017025436.2:c.2684T>C, XM_017025436.1:c.2684T>C, XM_017025437.2:c.2672T>C, XM_017025437.1:c.2672T>C, XM_017025438.2:c.2666T>C, XM_017025438.1:c.2666T>C, XM_017025439.2:c.2654T>C, XM_017025439.1:c.2654T>C, XM_017025443.2:c.2624T>C, XM_017025443.1:c.2624T>C, XM_017025442.2:c.2714T>C, XM_017025442.1:c.2714T>C, XM_017025444.2:c.2711T>C, XM_017025444.1:c.2711T>C, XM_017025446.2:c.2636T>C, XM_017025446.1:c.2636T>C, XM_017025448.2:c.2624T>C, XM_017025448.1:c.2624T>C, XM_047437170.1:c.2654T>C, XM_047437172.1:c.2642T>C, XM_047437179.1:c.2594T>C, XM_047437158.1:c.2672T>C, XM_047437159.1:c.2654T>C, XM_047437163.1:c.2606T>C, XM_047437165.1:c.2594T>C, XM_047437164.1:c.2684T>C, XM_047437167.1:c.2672T>C, XM_047437168.1:c.2669T>C, XM_047437160.1:c.2636T>C, XM_047437171.1:c.2651T>C, XM_047437161.1:c.2621T>C, XM_047437173.1:c.2639T>C, XM_047437174.1:c.2636T>C, XM_047437162.1:c.2702T>C, XM_047437176.1:c.2624T>C, XM_047437166.1:c.2681T>C, XM_047437177.1:c.2606T>C, XM_047437178.1:c.2603T>C, XM_047437169.1:c.2666T>C, XM_047437180.1:c.2591T>C, XM_047437181.1:c.2654T>C, XM_047437182.1:c.2642T>C, XM_047437175.1:c.2633T>C, XM_047437183.1:c.2639T>C, XM_047437184.1:c.2633T>C, XM_047437185.1:c.2624T>C, XM_047437186.1:c.2606T>C, XM_047437187.1:c.2594T>C, NP_055553.3:p.Leu881Pro, NP_001308078.1:p.Leu885Pro, NP_001308077.1:p.Leu891Pro, NP_001338132.1:p.Leu890Pro, NP_001338131.1:p.Leu865Pro, XP_011523816.1:p.Leu895Pro, XP_016880929.1:p.Leu881Pro, XP_005257921.1:p.Leu895Pro, XP_016880922.1:p.Leu905Pro, XP_016880923.1:p.Leu904Pro, XP_016880924.1:p.Leu901Pro, XP_016880925.1:p.Leu895Pro, XP_016880926.1:p.Leu891Pro, XP_016880927.1:p.Leu889Pro, XP_016880928.1:p.Leu885Pro, XP_016880932.1:p.Leu875Pro, XP_016880931.1:p.Leu905Pro, XP_016880933.1:p.Leu904Pro, XP_016880935.1:p.Leu879Pro, XP_016880937.1:p.Leu875Pro, XP_047293126.1:p.Leu885Pro, XP_047293128.1:p.Leu881Pro, XP_047293135.1:p.Leu865Pro, XP_047293114.1:p.Leu891Pro, XP_047293115.1:p.Leu885Pro, XP_047293119.1:p.Leu869Pro, XP_047293121.1:p.Leu865Pro, XP_047293120.1:p.Leu895Pro, XP_047293123.1:p.Leu891Pro, XP_047293124.1:p.Leu890Pro, XP_047293116.1:p.Leu879Pro, XP_047293127.1:p.Leu884Pro, XP_047293117.1:p.Leu874Pro, XP_047293129.1:p.Leu880Pro, XP_047293130.1:p.Leu879Pro, XP_047293118.1:p.Leu901Pro, XP_047293132.1:p.Leu875Pro, XP_047293122.1:p.Leu894Pro, XP_047293133.1:p.Leu869Pro, XP_047293134.1:p.Leu868Pro, XP_047293125.1:p.Leu889Pro, XP_047293136.1:p.Leu864Pro, XP_047293137.1:p.Leu885Pro, XP_047293138.1:p.Leu881Pro, XP_047293131.1:p.Leu878Pro, XP_047293139.1:p.Leu880Pro, XP_047293140.1:p.Leu878Pro, XP_047293141.1:p.Leu875Pro, XP_047293142.1:p.Leu869Pro, XP_047293143.1:p.Leu865Pro

    2.

    rs1489529666 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>T [Show Flanks]
      Chromosome:
      17:75491389 (GRCh38)
      17:73487470 (GRCh37)
      Canonical SPDI:
      NC_000017.11:75491388:G:T
      Gene:
      TMEM94 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.75491389G>T, NC_000017.10:g.73487470G>T, NG_054884.1:g.55231G>T, NM_014738.6:c.1320G>T, NM_014738.5:c.1320G>T, NM_014738.4:c.1320G>T, NM_001321149.2:c.1320G>T, NM_001321149.1:c.1320G>T, NM_001321148.2:c.1350G>T, NM_001321148.1:c.1350G>T, NM_001351203.2:c.1350G>T, NM_001351203.1:c.1350G>T, NM_001351202.2:c.1320G>T, NM_001351202.1:c.1320G>T, XM_011525514.3:c.1320G>T, XM_011525514.2:c.1320G>T, XM_011525514.1:c.1320G>T, XM_017025440.3:c.1320G>T, XM_017025440.2:c.1320G>T, XM_017025440.1:c.1320G>T, XM_005257864.3:c.1350G>T, XM_005257864.2:c.1350G>T, XM_005257864.1:c.1350G>T, XM_017025433.2:c.1350G>T, XM_017025433.1:c.1350G>T, XM_017025434.2:c.1350G>T, XM_017025434.1:c.1350G>T, XM_017025435.2:c.1350G>T, XM_017025435.1:c.1350G>T, XM_017025436.2:c.1350G>T, XM_017025436.1:c.1350G>T, XM_017025437.2:c.1350G>T, XM_017025437.1:c.1350G>T, XM_017025438.2:c.1350G>T, XM_017025438.1:c.1350G>T, XM_017025439.2:c.1350G>T, XM_017025439.1:c.1350G>T, XM_017025443.2:c.1350G>T, XM_017025443.1:c.1350G>T, XM_017025442.2:c.1350G>T, XM_017025442.1:c.1350G>T, XM_017025444.2:c.1350G>T, XM_017025444.1:c.1350G>T, XM_017025446.2:c.1350G>T, XM_017025446.1:c.1350G>T, XM_017025448.2:c.1350G>T, XM_017025448.1:c.1350G>T, XM_047437170.1:c.1320G>T, XM_047437172.1:c.1320G>T, XM_047437179.1:c.1320G>T, XM_047437158.1:c.1320G>T, XM_047437159.1:c.1320G>T, XM_047437163.1:c.1320G>T, XM_047437165.1:c.1320G>T, XM_047437164.1:c.1320G>T, XM_047437167.1:c.1320G>T, XM_047437168.1:c.1320G>T, XM_047437160.1:c.1350G>T, XM_047437171.1:c.1320G>T, XM_047437161.1:c.1350G>T, XM_047437173.1:c.1320G>T, XM_047437174.1:c.1320G>T, XM_047437162.1:c.1350G>T, XM_047437176.1:c.1320G>T, XM_047437166.1:c.1350G>T, XM_047437177.1:c.1320G>T, XM_047437178.1:c.1320G>T, XM_047437169.1:c.1350G>T, XM_047437180.1:c.1320G>T, XM_047437181.1:c.1320G>T, XM_047437182.1:c.1320G>T, XM_047437175.1:c.1350G>T, XM_047437183.1:c.1320G>T, XM_047437184.1:c.1320G>T, XM_047437185.1:c.1320G>T, XM_047437186.1:c.1320G>T, XM_047437187.1:c.1320G>T, NP_055553.3:p.Glu440Asp, NP_001308078.1:p.Glu440Asp, NP_001308077.1:p.Glu450Asp, NP_001338132.1:p.Glu450Asp, NP_001338131.1:p.Glu440Asp, XP_011523816.1:p.Glu440Asp, XP_016880929.1:p.Glu440Asp, XP_005257921.1:p.Glu450Asp, XP_016880922.1:p.Glu450Asp, XP_016880923.1:p.Glu450Asp, XP_016880924.1:p.Glu450Asp, XP_016880925.1:p.Glu450Asp, XP_016880926.1:p.Glu450Asp, XP_016880927.1:p.Glu450Asp, XP_016880928.1:p.Glu450Asp, XP_016880932.1:p.Glu450Asp, XP_016880931.1:p.Glu450Asp, XP_016880933.1:p.Glu450Asp, XP_016880935.1:p.Glu450Asp, XP_016880937.1:p.Glu450Asp, XP_047293126.1:p.Glu440Asp, XP_047293128.1:p.Glu440Asp, XP_047293135.1:p.Glu440Asp, XP_047293114.1:p.Glu440Asp, XP_047293115.1:p.Glu440Asp, XP_047293119.1:p.Glu440Asp, XP_047293121.1:p.Glu440Asp, XP_047293120.1:p.Glu440Asp, XP_047293123.1:p.Glu440Asp, XP_047293124.1:p.Glu440Asp, XP_047293116.1:p.Glu450Asp, XP_047293127.1:p.Glu440Asp, XP_047293117.1:p.Glu450Asp, XP_047293129.1:p.Glu440Asp, XP_047293130.1:p.Glu440Asp, XP_047293118.1:p.Glu450Asp, XP_047293132.1:p.Glu440Asp, XP_047293122.1:p.Glu450Asp, XP_047293133.1:p.Glu440Asp, XP_047293134.1:p.Glu440Asp, XP_047293125.1:p.Glu450Asp, XP_047293136.1:p.Glu440Asp, XP_047293137.1:p.Glu440Asp, XP_047293138.1:p.Glu440Asp, XP_047293131.1:p.Glu450Asp, XP_047293139.1:p.Glu440Asp, XP_047293140.1:p.Glu440Asp, XP_047293141.1:p.Glu440Asp, XP_047293142.1:p.Glu440Asp, XP_047293143.1:p.Glu440Asp

      3.

      rs1489357273 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        17:75493863 (GRCh38)
        17:73489944 (GRCh37)
        Canonical SPDI:
        NC_000017.11:75493862:C:T
        Gene:
        TMEM94 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.75493863C>T, NC_000017.10:g.73489944C>T, NG_054884.1:g.57705C>T, NM_014738.6:c.2354C>T, NM_014738.5:c.2354C>T, NM_014738.4:c.2354C>T, NM_001321149.2:c.2366C>T, NM_001321149.1:c.2366C>T, NM_001321148.2:c.2384C>T, NM_001321148.1:c.2384C>T, NM_001351203.2:c.2384C>T, NM_001351203.1:c.2384C>T, NM_001351202.2:c.2306C>T, NM_001351202.1:c.2306C>T, XM_011525514.3:c.2396C>T, XM_011525514.2:c.2396C>T, XM_011525514.1:c.2396C>T, XM_017025440.3:c.2354C>T, XM_017025440.2:c.2354C>T, XM_017025440.1:c.2354C>T, XM_005257864.3:c.2396C>T, XM_005257864.2:c.2396C>T, XM_005257864.1:c.2396C>T, XM_017025433.2:c.2426C>T, XM_017025433.1:c.2426C>T, XM_017025434.2:c.2426C>T, XM_017025434.1:c.2426C>T, XM_017025435.2:c.2414C>T, XM_017025435.1:c.2414C>T, XM_017025436.2:c.2396C>T, XM_017025436.1:c.2396C>T, XM_017025437.2:c.2384C>T, XM_017025437.1:c.2384C>T, XM_017025438.2:c.2378C>T, XM_017025438.1:c.2378C>T, XM_017025439.2:c.2366C>T, XM_017025439.1:c.2366C>T, XM_017025443.2:c.2336C>T, XM_017025443.1:c.2336C>T, XM_017025442.2:c.2426C>T, XM_017025442.1:c.2426C>T, XM_017025444.2:c.2426C>T, XM_017025444.1:c.2426C>T, XM_017025446.2:c.2348C>T, XM_017025446.1:c.2348C>T, XM_017025448.2:c.2336C>T, XM_017025448.1:c.2336C>T, XM_047437170.1:c.2366C>T, XM_047437172.1:c.2354C>T, XM_047437179.1:c.2306C>T, XM_047437158.1:c.2384C>T, XM_047437159.1:c.2366C>T, XM_047437163.1:c.2318C>T, XM_047437165.1:c.2306C>T, XM_047437164.1:c.2396C>T, XM_047437167.1:c.2384C>T, XM_047437168.1:c.2384C>T, XM_047437160.1:c.2348C>T, XM_047437171.1:c.2366C>T, XM_047437161.1:c.2336C>T, XM_047437173.1:c.2354C>T, XM_047437174.1:c.2348C>T, XM_047437162.1:c.2414C>T, XM_047437176.1:c.2336C>T, XM_047437166.1:c.2396C>T, XM_047437177.1:c.2318C>T, XM_047437178.1:c.2318C>T, XM_047437169.1:c.2378C>T, XM_047437180.1:c.2306C>T, XM_047437181.1:c.2366C>T, XM_047437182.1:c.2354C>T, XM_047437175.1:c.2348C>T, XM_047437183.1:c.2354C>T, XM_047437184.1:c.2348C>T, XM_047437185.1:c.2336C>T, XM_047437186.1:c.2318C>T, XM_047437187.1:c.2306C>T, NP_055553.3:p.Pro785Leu, NP_001308078.1:p.Pro789Leu, NP_001308077.1:p.Pro795Leu, NP_001338132.1:p.Pro795Leu, NP_001338131.1:p.Pro769Leu, XP_011523816.1:p.Pro799Leu, XP_016880929.1:p.Pro785Leu, XP_005257921.1:p.Pro799Leu, XP_016880922.1:p.Pro809Leu, XP_016880923.1:p.Pro809Leu, XP_016880924.1:p.Pro805Leu, XP_016880925.1:p.Pro799Leu, XP_016880926.1:p.Pro795Leu, XP_016880927.1:p.Pro793Leu, XP_016880928.1:p.Pro789Leu, XP_016880932.1:p.Pro779Leu, XP_016880931.1:p.Pro809Leu, XP_016880933.1:p.Pro809Leu, XP_016880935.1:p.Pro783Leu, XP_016880937.1:p.Pro779Leu, XP_047293126.1:p.Pro789Leu, XP_047293128.1:p.Pro785Leu, XP_047293135.1:p.Pro769Leu, XP_047293114.1:p.Pro795Leu, XP_047293115.1:p.Pro789Leu, XP_047293119.1:p.Pro773Leu, XP_047293121.1:p.Pro769Leu, XP_047293120.1:p.Pro799Leu, XP_047293123.1:p.Pro795Leu, XP_047293124.1:p.Pro795Leu, XP_047293116.1:p.Pro783Leu, XP_047293127.1:p.Pro789Leu, XP_047293117.1:p.Pro779Leu, XP_047293129.1:p.Pro785Leu, XP_047293130.1:p.Pro783Leu, XP_047293118.1:p.Pro805Leu, XP_047293132.1:p.Pro779Leu, XP_047293122.1:p.Pro799Leu, XP_047293133.1:p.Pro773Leu, XP_047293134.1:p.Pro773Leu, XP_047293125.1:p.Pro793Leu, XP_047293136.1:p.Pro769Leu, XP_047293137.1:p.Pro789Leu, XP_047293138.1:p.Pro785Leu, XP_047293131.1:p.Pro783Leu, XP_047293139.1:p.Pro785Leu, XP_047293140.1:p.Pro783Leu, XP_047293141.1:p.Pro779Leu, XP_047293142.1:p.Pro773Leu, XP_047293143.1:p.Pro769Leu

        4.

        rs1489029151 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C,G [Show Flanks]
          Chromosome:
          17:75499040 (GRCh38)
          17:73495121 (GRCh37)
          Canonical SPDI:
          NC_000017.11:75499039:T:C,NC_000017.11:75499039:T:G
          Gene:
          TMEM94 (Varview), MIR6785 (Varview)
          Functional Consequence:
          downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_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.75499040T>C, NC_000017.11:g.75499040T>G, NC_000017.10:g.73495121T>C, NC_000017.10:g.73495121T>G, NG_054884.1:g.62882T>C, NG_054884.1:g.62882T>G, NM_014738.6:c.3956T>C, NM_014738.6:c.3956T>G, NM_014738.5:c.3956T>C, NM_014738.5:c.3956T>G, NM_014738.4:c.3956T>C, NM_014738.4:c.3956T>G, NM_001321149.2:c.3968T>C, NM_001321149.2:c.3968T>G, NM_001321149.1:c.3968T>C, NM_001321149.1:c.3968T>G, NM_001321148.2:c.3986T>C, NM_001321148.2:c.3986T>G, NM_001321148.1:c.3986T>C, NM_001321148.1:c.3986T>G, NM_001351203.2:c.3983T>C, NM_001351203.2:c.3983T>G, NM_001351203.1:c.3983T>C, NM_001351203.1:c.3983T>G, NM_001351202.2:c.3908T>C, NM_001351202.2:c.3908T>G, NM_001351202.1:c.3908T>C, NM_001351202.1:c.3908T>G, NG_033152.1:g.21544A>G, NG_033152.1:g.21544A>C, XM_011525514.3:c.4088T>C, XM_011525514.3:c.4088T>G, XM_011525514.2:c.4088T>C, XM_011525514.2:c.4088T>G, XM_011525514.1:c.4088T>C, XM_011525514.1:c.4088T>G, XM_017025440.3:c.4046T>C, XM_017025440.3:c.4046T>G, XM_017025440.2:c.4046T>C, XM_017025440.2:c.4046T>G, XM_017025440.1:c.4046T>C, XM_017025440.1:c.4046T>G, XM_005257864.3:c.3998T>C, XM_005257864.3:c.3998T>G, XM_005257864.2:c.3998T>C, XM_005257864.2:c.3998T>G, XM_005257864.1:c.3998T>C, XM_005257864.1:c.3998T>G, XM_017025433.2:c.4118T>C, XM_017025433.2:c.4118T>G, XM_017025433.1:c.4118T>C, XM_017025433.1:c.4118T>G, XM_017025434.2:c.4115T>C, XM_017025434.2:c.4115T>G, XM_017025434.1:c.4115T>C, XM_017025434.1:c.4115T>G, XM_017025435.2:c.4106T>C, XM_017025435.2:c.4106T>G, XM_017025435.1:c.4106T>C, XM_017025435.1:c.4106T>G, XM_017025436.2:c.4088T>C, XM_017025436.2:c.4088T>G, XM_017025436.1:c.4088T>C, XM_017025436.1:c.4088T>G, XM_017025437.2:c.4076T>C, XM_017025437.2:c.4076T>G, XM_017025437.1:c.4076T>C, XM_017025437.1:c.4076T>G, XM_017025438.2:c.4070T>C, XM_017025438.2:c.4070T>G, XM_017025438.1:c.4070T>C, XM_017025438.1:c.4070T>G, XM_017025439.2:c.4058T>C, XM_017025439.2:c.4058T>G, XM_017025439.1:c.4058T>C, XM_017025439.1:c.4058T>G, XM_017025443.2:c.4028T>C, XM_017025443.2:c.4028T>G, XM_017025443.1:c.4028T>C, XM_017025443.1:c.4028T>G, XM_017025442.2:c.4028T>C, XM_017025442.2:c.4028T>G, XM_017025442.1:c.4028T>C, XM_017025442.1:c.4028T>G, XM_017025444.2:c.4025T>C, XM_017025444.2:c.4025T>G, XM_017025444.1:c.4025T>C, XM_017025444.1:c.4025T>G, XM_017025446.2:c.3950T>C, XM_017025446.2:c.3950T>G, XM_017025446.1:c.3950T>C, XM_017025446.1:c.3950T>G, XM_017025448.2:c.3938T>C, XM_017025448.2:c.3938T>G, XM_017025448.1:c.3938T>C, XM_017025448.1:c.3938T>G, XM_047437170.1:c.3968T>C, XM_047437170.1:c.3968T>G, XM_047437172.1:c.3956T>C, XM_047437172.1:c.3956T>G, XM_047437179.1:c.3908T>C, XM_047437179.1:c.3908T>G, XM_047437158.1:c.4076T>C, XM_047437158.1:c.4076T>G, XM_047437159.1:c.4058T>C, XM_047437159.1:c.4058T>G, XM_047437163.1:c.4010T>C, XM_047437163.1:c.4010T>G, XM_047437165.1:c.3998T>C, XM_047437165.1:c.3998T>G, XM_047437164.1:c.3998T>C, XM_047437164.1:c.3998T>G, XM_047437167.1:c.3986T>C, XM_047437167.1:c.3986T>G, XM_047437168.1:c.3983T>C, XM_047437168.1:c.3983T>G, XM_047437160.1:c.4040T>C, XM_047437160.1:c.4040T>G, XM_047437171.1:c.3965T>C, XM_047437171.1:c.3965T>G, XM_047437161.1:c.4025T>C, XM_047437161.1:c.4025T>G, XM_047437173.1:c.3953T>C, XM_047437173.1:c.3953T>G, XM_047437174.1:c.3950T>C, XM_047437174.1:c.3950T>G, XM_047437162.1:c.4016T>C, XM_047437162.1:c.4016T>G, XM_047437176.1:c.3938T>C, XM_047437176.1:c.3938T>G, XM_047437166.1:c.3995T>C, XM_047437166.1:c.3995T>G, XM_047437177.1:c.3920T>C, XM_047437177.1:c.3920T>G, XM_047437178.1:c.3917T>C, XM_047437178.1:c.3917T>G, XM_047437169.1:c.3980T>C, XM_047437169.1:c.3980T>G, XM_047437180.1:c.3905T>C, XM_047437180.1:c.3905T>G, XM_047437181.1:c.3890T>C, XM_047437181.1:c.3890T>G, XM_047437182.1:c.3878T>C, XM_047437182.1:c.3878T>G, XM_047437175.1:c.3947T>C, XM_047437175.1:c.3947T>G, XM_047437183.1:c.3875T>C, XM_047437183.1:c.3875T>G, XM_047437184.1:c.3869T>C, XM_047437184.1:c.3869T>G, XM_047437185.1:c.3860T>C, XM_047437185.1:c.3860T>G, XM_047437186.1:c.3842T>C, XM_047437186.1:c.3842T>G, XM_047437187.1:c.3830T>C, XM_047437187.1:c.3830T>G, NP_055553.3:p.Leu1319Pro, NP_055553.3:p.Leu1319Arg, NP_001308078.1:p.Leu1323Pro, NP_001308078.1:p.Leu1323Arg, NP_001308077.1:p.Leu1329Pro, NP_001308077.1:p.Leu1329Arg, NP_001338132.1:p.Leu1328Pro, NP_001338132.1:p.Leu1328Arg, NP_001338131.1:p.Leu1303Pro, NP_001338131.1:p.Leu1303Arg, XP_011523816.1:p.Leu1363Pro, XP_011523816.1:p.Leu1363Arg, XP_016880929.1:p.Leu1349Pro, XP_016880929.1:p.Leu1349Arg, XP_005257921.1:p.Leu1333Pro, XP_005257921.1:p.Leu1333Arg, XP_016880922.1:p.Leu1373Pro, XP_016880922.1:p.Leu1373Arg, XP_016880923.1:p.Leu1372Pro, XP_016880923.1:p.Leu1372Arg, XP_016880924.1:p.Leu1369Pro, XP_016880924.1:p.Leu1369Arg, XP_016880925.1:p.Leu1363Pro, XP_016880925.1:p.Leu1363Arg, XP_016880926.1:p.Leu1359Pro, XP_016880926.1:p.Leu1359Arg, XP_016880927.1:p.Leu1357Pro, XP_016880927.1:p.Leu1357Arg, XP_016880928.1:p.Leu1353Pro, XP_016880928.1:p.Leu1353Arg, XP_016880932.1:p.Leu1343Pro, XP_016880932.1:p.Leu1343Arg, XP_016880931.1:p.Leu1343Pro, XP_016880931.1:p.Leu1343Arg, XP_016880933.1:p.Leu1342Pro, XP_016880933.1:p.Leu1342Arg, XP_016880935.1:p.Leu1317Pro, XP_016880935.1:p.Leu1317Arg, XP_016880937.1:p.Leu1313Pro, XP_016880937.1:p.Leu1313Arg, XP_047293126.1:p.Leu1323Pro, XP_047293126.1:p.Leu1323Arg, XP_047293128.1:p.Leu1319Pro, XP_047293128.1:p.Leu1319Arg, XP_047293135.1:p.Leu1303Pro, XP_047293135.1:p.Leu1303Arg, XP_047293114.1:p.Leu1359Pro, XP_047293114.1:p.Leu1359Arg, XP_047293115.1:p.Leu1353Pro, XP_047293115.1:p.Leu1353Arg, XP_047293119.1:p.Leu1337Pro, XP_047293119.1:p.Leu1337Arg, XP_047293121.1:p.Leu1333Pro, XP_047293121.1:p.Leu1333Arg, XP_047293120.1:p.Leu1333Pro, XP_047293120.1:p.Leu1333Arg, XP_047293123.1:p.Leu1329Pro, XP_047293123.1:p.Leu1329Arg, XP_047293124.1:p.Leu1328Pro, XP_047293124.1:p.Leu1328Arg, XP_047293116.1:p.Leu1347Pro, XP_047293116.1:p.Leu1347Arg, XP_047293127.1:p.Leu1322Pro, XP_047293127.1:p.Leu1322Arg, XP_047293117.1:p.Leu1342Pro, XP_047293117.1:p.Leu1342Arg, XP_047293129.1:p.Leu1318Pro, XP_047293129.1:p.Leu1318Arg, XP_047293130.1:p.Leu1317Pro, XP_047293130.1:p.Leu1317Arg, XP_047293118.1:p.Leu1339Pro, XP_047293118.1:p.Leu1339Arg, XP_047293132.1:p.Leu1313Pro, XP_047293132.1:p.Leu1313Arg, XP_047293122.1:p.Leu1332Pro, XP_047293122.1:p.Leu1332Arg, XP_047293133.1:p.Leu1307Pro, XP_047293133.1:p.Leu1307Arg, XP_047293134.1:p.Leu1306Pro, XP_047293134.1:p.Leu1306Arg, XP_047293125.1:p.Leu1327Pro, XP_047293125.1:p.Leu1327Arg, XP_047293136.1:p.Leu1302Pro, XP_047293136.1:p.Leu1302Arg, XP_047293137.1:p.Leu1297Pro, XP_047293137.1:p.Leu1297Arg, XP_047293138.1:p.Leu1293Pro, XP_047293138.1:p.Leu1293Arg, XP_047293131.1:p.Leu1316Pro, XP_047293131.1:p.Leu1316Arg, XP_047293139.1:p.Leu1292Pro, XP_047293139.1:p.Leu1292Arg, XP_047293140.1:p.Leu1290Pro, XP_047293140.1:p.Leu1290Arg, XP_047293141.1:p.Leu1287Pro, XP_047293141.1:p.Leu1287Arg, XP_047293142.1:p.Leu1281Pro, XP_047293142.1:p.Leu1281Arg, XP_047293143.1:p.Leu1277Pro, XP_047293143.1:p.Leu1277Arg

          5.

          rs1488596047 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            17:75491316 (GRCh38)
            17:73487397 (GRCh37)
            Canonical SPDI:
            NC_000017.11:75491315:T:C
            Gene:
            TMEM94 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (GnomAD_exomes)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000017.11:g.75491316T>C, NC_000017.10:g.73487397T>C, NG_054884.1:g.55158T>C, NM_014738.6:c.1247T>C, NM_014738.5:c.1247T>C, NM_014738.4:c.1247T>C, NM_001321149.2:c.1247T>C, NM_001321149.1:c.1247T>C, NM_001321148.2:c.1277T>C, NM_001321148.1:c.1277T>C, NM_001351203.2:c.1277T>C, NM_001351203.1:c.1277T>C, NM_001351202.2:c.1247T>C, NM_001351202.1:c.1247T>C, XM_011525514.3:c.1247T>C, XM_011525514.2:c.1247T>C, XM_011525514.1:c.1247T>C, XM_017025440.3:c.1247T>C, XM_017025440.2:c.1247T>C, XM_017025440.1:c.1247T>C, XM_005257864.3:c.1277T>C, XM_005257864.2:c.1277T>C, XM_005257864.1:c.1277T>C, XM_017025433.2:c.1277T>C, XM_017025433.1:c.1277T>C, XM_017025434.2:c.1277T>C, XM_017025434.1:c.1277T>C, XM_017025435.2:c.1277T>C, XM_017025435.1:c.1277T>C, XM_017025436.2:c.1277T>C, XM_017025436.1:c.1277T>C, XM_017025437.2:c.1277T>C, XM_017025437.1:c.1277T>C, XM_017025438.2:c.1277T>C, XM_017025438.1:c.1277T>C, XM_017025439.2:c.1277T>C, XM_017025439.1:c.1277T>C, XM_017025443.2:c.1277T>C, XM_017025443.1:c.1277T>C, XM_017025442.2:c.1277T>C, XM_017025442.1:c.1277T>C, XM_017025444.2:c.1277T>C, XM_017025444.1:c.1277T>C, XM_017025446.2:c.1277T>C, XM_017025446.1:c.1277T>C, XM_017025448.2:c.1277T>C, XM_017025448.1:c.1277T>C, XM_047437170.1:c.1247T>C, XM_047437172.1:c.1247T>C, XM_047437179.1:c.1247T>C, XM_047437158.1:c.1247T>C, XM_047437159.1:c.1247T>C, XM_047437163.1:c.1247T>C, XM_047437165.1:c.1247T>C, XM_047437164.1:c.1247T>C, XM_047437167.1:c.1247T>C, XM_047437168.1:c.1247T>C, XM_047437160.1:c.1277T>C, XM_047437171.1:c.1247T>C, XM_047437161.1:c.1277T>C, XM_047437173.1:c.1247T>C, XM_047437174.1:c.1247T>C, XM_047437162.1:c.1277T>C, XM_047437176.1:c.1247T>C, XM_047437166.1:c.1277T>C, XM_047437177.1:c.1247T>C, XM_047437178.1:c.1247T>C, XM_047437169.1:c.1277T>C, XM_047437180.1:c.1247T>C, XM_047437181.1:c.1247T>C, XM_047437182.1:c.1247T>C, XM_047437175.1:c.1277T>C, XM_047437183.1:c.1247T>C, XM_047437184.1:c.1247T>C, XM_047437185.1:c.1247T>C, XM_047437186.1:c.1247T>C, XM_047437187.1:c.1247T>C, NP_055553.3:p.Val416Ala, NP_001308078.1:p.Val416Ala, NP_001308077.1:p.Val426Ala, NP_001338132.1:p.Val426Ala, NP_001338131.1:p.Val416Ala, XP_011523816.1:p.Val416Ala, XP_016880929.1:p.Val416Ala, XP_005257921.1:p.Val426Ala, XP_016880922.1:p.Val426Ala, XP_016880923.1:p.Val426Ala, XP_016880924.1:p.Val426Ala, XP_016880925.1:p.Val426Ala, XP_016880926.1:p.Val426Ala, XP_016880927.1:p.Val426Ala, XP_016880928.1:p.Val426Ala, XP_016880932.1:p.Val426Ala, XP_016880931.1:p.Val426Ala, XP_016880933.1:p.Val426Ala, XP_016880935.1:p.Val426Ala, XP_016880937.1:p.Val426Ala, XP_047293126.1:p.Val416Ala, XP_047293128.1:p.Val416Ala, XP_047293135.1:p.Val416Ala, XP_047293114.1:p.Val416Ala, XP_047293115.1:p.Val416Ala, XP_047293119.1:p.Val416Ala, XP_047293121.1:p.Val416Ala, XP_047293120.1:p.Val416Ala, XP_047293123.1:p.Val416Ala, XP_047293124.1:p.Val416Ala, XP_047293116.1:p.Val426Ala, XP_047293127.1:p.Val416Ala, XP_047293117.1:p.Val426Ala, XP_047293129.1:p.Val416Ala, XP_047293130.1:p.Val416Ala, XP_047293118.1:p.Val426Ala, XP_047293132.1:p.Val416Ala, XP_047293122.1:p.Val426Ala, XP_047293133.1:p.Val416Ala, XP_047293134.1:p.Val416Ala, XP_047293125.1:p.Val426Ala, XP_047293136.1:p.Val416Ala, XP_047293137.1:p.Val416Ala, XP_047293138.1:p.Val416Ala, XP_047293131.1:p.Val426Ala, XP_047293139.1:p.Val416Ala, XP_047293140.1:p.Val416Ala, XP_047293141.1:p.Val416Ala, XP_047293142.1:p.Val416Ala, XP_047293143.1:p.Val416Ala

            6.

            rs1488481896 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              17:75492943 (GRCh38)
              17:73489024 (GRCh37)
              Canonical SPDI:
              NC_000017.11:75492942:G:T
              Gene:
              TMEM94 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.75492943G>T, NC_000017.10:g.73489024G>T, NG_054884.1:g.56785G>T, NM_014738.6:c.1927G>T, NM_014738.5:c.1927G>T, NM_014738.4:c.1927G>T, NM_001321149.2:c.1939G>T, NM_001321149.1:c.1939G>T, NM_001321148.2:c.1957G>T, NM_001321148.1:c.1957G>T, NM_001351203.2:c.1957G>T, NM_001351203.1:c.1957G>T, NM_001351202.2:c.1879G>T, NM_001351202.1:c.1879G>T, XM_011525514.3:c.1939G>T, XM_011525514.2:c.1939G>T, XM_011525514.1:c.1939G>T, XM_017025440.3:c.1927G>T, XM_017025440.2:c.1927G>T, XM_017025440.1:c.1927G>T, XM_005257864.3:c.1969G>T, XM_005257864.2:c.1969G>T, XM_005257864.1:c.1969G>T, XM_017025433.2:c.1969G>T, XM_017025433.1:c.1969G>T, XM_017025434.2:c.1969G>T, XM_017025434.1:c.1969G>T, XM_017025435.2:c.1957G>T, XM_017025435.1:c.1957G>T, XM_017025436.2:c.1969G>T, XM_017025436.1:c.1969G>T, XM_017025437.2:c.1957G>T, XM_017025437.1:c.1957G>T, XM_017025438.2:c.1921G>T, XM_017025438.1:c.1921G>T, XM_017025439.2:c.1909G>T, XM_017025439.1:c.1909G>T, XM_017025443.2:c.1909G>T, XM_017025443.1:c.1909G>T, XM_017025442.2:c.1969G>T, XM_017025442.1:c.1969G>T, XM_017025444.2:c.1969G>T, XM_017025444.1:c.1969G>T, XM_017025446.2:c.1921G>T, XM_017025446.1:c.1921G>T, XM_017025448.2:c.1909G>T, XM_017025448.1:c.1909G>T, XM_047437170.1:c.1939G>T, XM_047437172.1:c.1927G>T, XM_047437179.1:c.1879G>T, XM_047437158.1:c.1927G>T, XM_047437159.1:c.1939G>T, XM_047437163.1:c.1891G>T, XM_047437165.1:c.1879G>T, XM_047437164.1:c.1939G>T, XM_047437167.1:c.1927G>T, XM_047437168.1:c.1927G>T, XM_047437160.1:c.1921G>T, XM_047437171.1:c.1939G>T, XM_047437161.1:c.1909G>T, XM_047437173.1:c.1927G>T, XM_047437174.1:c.1891G>T, XM_047437162.1:c.1957G>T, XM_047437176.1:c.1879G>T, XM_047437166.1:c.1969G>T, XM_047437177.1:c.1891G>T, XM_047437178.1:c.1891G>T, XM_047437169.1:c.1921G>T, XM_047437180.1:c.1879G>T, XM_047437181.1:c.1939G>T, XM_047437182.1:c.1927G>T, XM_047437175.1:c.1921G>T, XM_047437183.1:c.1927G>T, XM_047437184.1:c.1891G>T, XM_047437185.1:c.1879G>T, XM_047437186.1:c.1891G>T, XM_047437187.1:c.1879G>T, NP_055553.3:p.Ala643Ser, NP_001308078.1:p.Ala647Ser, NP_001308077.1:p.Ala653Ser, NP_001338132.1:p.Ala653Ser, NP_001338131.1:p.Ala627Ser, XP_011523816.1:p.Ala647Ser, XP_016880929.1:p.Ala643Ser, XP_005257921.1:p.Ala657Ser, XP_016880922.1:p.Ala657Ser, XP_016880923.1:p.Ala657Ser, XP_016880924.1:p.Ala653Ser, XP_016880925.1:p.Ala657Ser, XP_016880926.1:p.Ala653Ser, XP_016880927.1:p.Ala641Ser, XP_016880928.1:p.Ala637Ser, XP_016880932.1:p.Ala637Ser, XP_016880931.1:p.Ala657Ser, XP_016880933.1:p.Ala657Ser, XP_016880935.1:p.Ala641Ser, XP_016880937.1:p.Ala637Ser, XP_047293126.1:p.Ala647Ser, XP_047293128.1:p.Ala643Ser, XP_047293135.1:p.Ala627Ser, XP_047293114.1:p.Ala643Ser, XP_047293115.1:p.Ala647Ser, XP_047293119.1:p.Ala631Ser, XP_047293121.1:p.Ala627Ser, XP_047293120.1:p.Ala647Ser, XP_047293123.1:p.Ala643Ser, XP_047293124.1:p.Ala643Ser, XP_047293116.1:p.Ala641Ser, XP_047293127.1:p.Ala647Ser, XP_047293117.1:p.Ala637Ser, XP_047293129.1:p.Ala643Ser, XP_047293130.1:p.Ala631Ser, XP_047293118.1:p.Ala653Ser, XP_047293132.1:p.Ala627Ser, XP_047293122.1:p.Ala657Ser, XP_047293133.1:p.Ala631Ser, XP_047293134.1:p.Ala631Ser, XP_047293125.1:p.Ala641Ser, XP_047293136.1:p.Ala627Ser, XP_047293137.1:p.Ala647Ser, XP_047293138.1:p.Ala643Ser, XP_047293131.1:p.Ala641Ser, XP_047293139.1:p.Ala643Ser, XP_047293140.1:p.Ala631Ser, XP_047293141.1:p.Ala627Ser, XP_047293142.1:p.Ala631Ser, XP_047293143.1:p.Ala627Ser

              7.

              rs1486783729 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>A,T [Show Flanks]
                Chromosome:
                17:75498684 (GRCh38)
                17:73494765 (GRCh37)
                Canonical SPDI:
                NC_000017.11:75498683:C:A,NC_000017.11:75498683:C:T
                Gene:
                TMEM94 (Varview), MIR6785 (Varview)
                Functional Consequence:
                synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000017.11:g.75498684C>A, NC_000017.11:g.75498684C>T, NC_000017.10:g.73494765C>A, NC_000017.10:g.73494765C>T, NG_054884.1:g.62526C>A, NG_054884.1:g.62526C>T, NM_014738.6:c.3789C>A, NM_014738.6:c.3789C>T, NM_014738.5:c.3789C>A, NM_014738.5:c.3789C>T, NM_014738.4:c.3789C>A, NM_014738.4:c.3789C>T, NM_001321149.2:c.3801C>A, NM_001321149.2:c.3801C>T, NM_001321149.1:c.3801C>A, NM_001321149.1:c.3801C>T, NM_001321148.2:c.3819C>A, NM_001321148.2:c.3819C>T, NM_001321148.1:c.3819C>A, NM_001321148.1:c.3819C>T, NM_001351203.2:c.3816C>A, NM_001351203.2:c.3816C>T, NM_001351203.1:c.3816C>A, NM_001351203.1:c.3816C>T, NM_001351202.2:c.3741C>A, NM_001351202.2:c.3741C>T, NM_001351202.1:c.3741C>A, NM_001351202.1:c.3741C>T, NG_033152.1:g.21900G>T, NG_033152.1:g.21900G>A, XM_011525514.3:c.3921C>A, XM_011525514.3:c.3921C>T, XM_011525514.2:c.3921C>A, XM_011525514.2:c.3921C>T, XM_011525514.1:c.3921C>A, XM_011525514.1:c.3921C>T, XM_017025440.3:c.3879C>A, XM_017025440.3:c.3879C>T, XM_017025440.2:c.3879C>A, XM_017025440.2:c.3879C>T, XM_017025440.1:c.3879C>A, XM_017025440.1:c.3879C>T, XM_005257864.3:c.3831C>A, XM_005257864.3:c.3831C>T, XM_005257864.2:c.3831C>A, XM_005257864.2:c.3831C>T, XM_005257864.1:c.3831C>A, XM_005257864.1:c.3831C>T, XM_017025433.2:c.3951C>A, XM_017025433.2:c.3951C>T, XM_017025433.1:c.3951C>A, XM_017025433.1:c.3951C>T, XM_017025434.2:c.3948C>A, XM_017025434.2:c.3948C>T, XM_017025434.1:c.3948C>A, XM_017025434.1:c.3948C>T, XM_017025435.2:c.3939C>A, XM_017025435.2:c.3939C>T, XM_017025435.1:c.3939C>A, XM_017025435.1:c.3939C>T, XM_017025436.2:c.3921C>A, XM_017025436.2:c.3921C>T, XM_017025436.1:c.3921C>A, XM_017025436.1:c.3921C>T, XM_017025437.2:c.3909C>A, XM_017025437.2:c.3909C>T, XM_017025437.1:c.3909C>A, XM_017025437.1:c.3909C>T, XM_017025438.2:c.3903C>A, XM_017025438.2:c.3903C>T, XM_017025438.1:c.3903C>A, XM_017025438.1:c.3903C>T, XM_017025439.2:c.3891C>A, XM_017025439.2:c.3891C>T, XM_017025439.1:c.3891C>A, XM_017025439.1:c.3891C>T, XM_017025443.2:c.3861C>A, XM_017025443.2:c.3861C>T, XM_017025443.1:c.3861C>A, XM_017025443.1:c.3861C>T, XM_017025442.2:c.3861C>A, XM_017025442.2:c.3861C>T, XM_017025442.1:c.3861C>A, XM_017025442.1:c.3861C>T, XM_017025444.2:c.3858C>A, XM_017025444.2:c.3858C>T, XM_017025444.1:c.3858C>A, XM_017025444.1:c.3858C>T, XM_017025446.2:c.3783C>A, XM_017025446.2:c.3783C>T, XM_017025446.1:c.3783C>A, XM_017025446.1:c.3783C>T, XM_017025448.2:c.3771C>A, XM_017025448.2:c.3771C>T, XM_017025448.1:c.3771C>A, XM_017025448.1:c.3771C>T, XM_047437170.1:c.3801C>A, XM_047437170.1:c.3801C>T, XM_047437172.1:c.3789C>A, XM_047437172.1:c.3789C>T, XM_047437179.1:c.3741C>A, XM_047437179.1:c.3741C>T, XM_047437158.1:c.3909C>A, XM_047437158.1:c.3909C>T, XM_047437159.1:c.3891C>A, XM_047437159.1:c.3891C>T, XM_047437163.1:c.3843C>A, XM_047437163.1:c.3843C>T, XM_047437165.1:c.3831C>A, XM_047437165.1:c.3831C>T, XM_047437164.1:c.3831C>A, XM_047437164.1:c.3831C>T, XM_047437167.1:c.3819C>A, XM_047437167.1:c.3819C>T, XM_047437168.1:c.3816C>A, XM_047437168.1:c.3816C>T, XM_047437160.1:c.3873C>A, XM_047437160.1:c.3873C>T, XM_047437171.1:c.3798C>A, XM_047437171.1:c.3798C>T, XM_047437161.1:c.3858C>A, XM_047437161.1:c.3858C>T, XM_047437173.1:c.3786C>A, XM_047437173.1:c.3786C>T, XM_047437174.1:c.3783C>A, XM_047437174.1:c.3783C>T, XM_047437162.1:c.3849C>A, XM_047437162.1:c.3849C>T, XM_047437176.1:c.3771C>A, XM_047437176.1:c.3771C>T, XM_047437166.1:c.3828C>A, XM_047437166.1:c.3828C>T, XM_047437177.1:c.3753C>A, XM_047437177.1:c.3753C>T, XM_047437178.1:c.3750C>A, XM_047437178.1:c.3750C>T, XM_047437169.1:c.3813C>A, XM_047437169.1:c.3813C>T, XM_047437180.1:c.3738C>A, XM_047437180.1:c.3738C>T, XM_047437181.1:c.3723C>A, XM_047437181.1:c.3723C>T, XM_047437182.1:c.3711C>A, XM_047437182.1:c.3711C>T, XM_047437175.1:c.3780C>A, XM_047437175.1:c.3780C>T, XM_047437183.1:c.3708C>A, XM_047437183.1:c.3708C>T, XM_047437184.1:c.3702C>A, XM_047437184.1:c.3702C>T, XM_047437185.1:c.3693C>A, XM_047437185.1:c.3693C>T, XM_047437186.1:c.3675C>A, XM_047437186.1:c.3675C>T, XM_047437187.1:c.3663C>A, XM_047437187.1:c.3663C>T

                8.

                rs1485745422 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G,T [Show Flanks]
                  Chromosome:
                  17:75498692 (GRCh38)
                  17:73494773 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:75498691:A:G,NC_000017.11:75498691:A:T
                  Gene:
                  TMEM94 (Varview), MIR6785 (Varview)
                  Functional Consequence:
                  downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  G=0.000004/1 (GnomAD_exomes)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000017.11:g.75498692A>G, NC_000017.11:g.75498692A>T, NC_000017.10:g.73494773A>G, NC_000017.10:g.73494773A>T, NG_054884.1:g.62534A>G, NG_054884.1:g.62534A>T, NM_014738.6:c.3797A>G, NM_014738.6:c.3797A>T, NM_014738.5:c.3797A>G, NM_014738.5:c.3797A>T, NM_014738.4:c.3797A>G, NM_014738.4:c.3797A>T, NM_001321149.2:c.3809A>G, NM_001321149.2:c.3809A>T, NM_001321149.1:c.3809A>G, NM_001321149.1:c.3809A>T, NM_001321148.2:c.3827A>G, NM_001321148.2:c.3827A>T, NM_001321148.1:c.3827A>G, NM_001321148.1:c.3827A>T, NM_001351203.2:c.3824A>G, NM_001351203.2:c.3824A>T, NM_001351203.1:c.3824A>G, NM_001351203.1:c.3824A>T, NM_001351202.2:c.3749A>G, NM_001351202.2:c.3749A>T, NM_001351202.1:c.3749A>G, NM_001351202.1:c.3749A>T, NG_033152.1:g.21892T>C, NG_033152.1:g.21892T>A, XM_011525514.3:c.3929A>G, XM_011525514.3:c.3929A>T, XM_011525514.2:c.3929A>G, XM_011525514.2:c.3929A>T, XM_011525514.1:c.3929A>G, XM_011525514.1:c.3929A>T, XM_017025440.3:c.3887A>G, XM_017025440.3:c.3887A>T, XM_017025440.2:c.3887A>G, XM_017025440.2:c.3887A>T, XM_017025440.1:c.3887A>G, XM_017025440.1:c.3887A>T, XM_005257864.3:c.3839A>G, XM_005257864.3:c.3839A>T, XM_005257864.2:c.3839A>G, XM_005257864.2:c.3839A>T, XM_005257864.1:c.3839A>G, XM_005257864.1:c.3839A>T, XM_017025433.2:c.3959A>G, XM_017025433.2:c.3959A>T, XM_017025433.1:c.3959A>G, XM_017025433.1:c.3959A>T, XM_017025434.2:c.3956A>G, XM_017025434.2:c.3956A>T, XM_017025434.1:c.3956A>G, XM_017025434.1:c.3956A>T, XM_017025435.2:c.3947A>G, XM_017025435.2:c.3947A>T, XM_017025435.1:c.3947A>G, XM_017025435.1:c.3947A>T, XM_017025436.2:c.3929A>G, XM_017025436.2:c.3929A>T, XM_017025436.1:c.3929A>G, XM_017025436.1:c.3929A>T, XM_017025437.2:c.3917A>G, XM_017025437.2:c.3917A>T, XM_017025437.1:c.3917A>G, XM_017025437.1:c.3917A>T, XM_017025438.2:c.3911A>G, XM_017025438.2:c.3911A>T, XM_017025438.1:c.3911A>G, XM_017025438.1:c.3911A>T, XM_017025439.2:c.3899A>G, XM_017025439.2:c.3899A>T, XM_017025439.1:c.3899A>G, XM_017025439.1:c.3899A>T, XM_017025443.2:c.3869A>G, XM_017025443.2:c.3869A>T, XM_017025443.1:c.3869A>G, XM_017025443.1:c.3869A>T, XM_017025442.2:c.3869A>G, XM_017025442.2:c.3869A>T, XM_017025442.1:c.3869A>G, XM_017025442.1:c.3869A>T, XM_017025444.2:c.3866A>G, XM_017025444.2:c.3866A>T, XM_017025444.1:c.3866A>G, XM_017025444.1:c.3866A>T, XM_017025446.2:c.3791A>G, XM_017025446.2:c.3791A>T, XM_017025446.1:c.3791A>G, XM_017025446.1:c.3791A>T, XM_017025448.2:c.3779A>G, XM_017025448.2:c.3779A>T, XM_017025448.1:c.3779A>G, XM_017025448.1:c.3779A>T, XM_047437170.1:c.3809A>G, XM_047437170.1:c.3809A>T, XM_047437172.1:c.3797A>G, XM_047437172.1:c.3797A>T, XM_047437179.1:c.3749A>G, XM_047437179.1:c.3749A>T, XM_047437158.1:c.3917A>G, XM_047437158.1:c.3917A>T, XM_047437159.1:c.3899A>G, XM_047437159.1:c.3899A>T, XM_047437163.1:c.3851A>G, XM_047437163.1:c.3851A>T, XM_047437165.1:c.3839A>G, XM_047437165.1:c.3839A>T, XM_047437164.1:c.3839A>G, XM_047437164.1:c.3839A>T, XM_047437167.1:c.3827A>G, XM_047437167.1:c.3827A>T, XM_047437168.1:c.3824A>G, XM_047437168.1:c.3824A>T, XM_047437160.1:c.3881A>G, XM_047437160.1:c.3881A>T, XM_047437171.1:c.3806A>G, XM_047437171.1:c.3806A>T, XM_047437161.1:c.3866A>G, XM_047437161.1:c.3866A>T, XM_047437173.1:c.3794A>G, XM_047437173.1:c.3794A>T, XM_047437174.1:c.3791A>G, XM_047437174.1:c.3791A>T, XM_047437162.1:c.3857A>G, XM_047437162.1:c.3857A>T, XM_047437176.1:c.3779A>G, XM_047437176.1:c.3779A>T, XM_047437166.1:c.3836A>G, XM_047437166.1:c.3836A>T, XM_047437177.1:c.3761A>G, XM_047437177.1:c.3761A>T, XM_047437178.1:c.3758A>G, XM_047437178.1:c.3758A>T, XM_047437169.1:c.3821A>G, XM_047437169.1:c.3821A>T, XM_047437180.1:c.3746A>G, XM_047437180.1:c.3746A>T, XM_047437181.1:c.3731A>G, XM_047437181.1:c.3731A>T, XM_047437182.1:c.3719A>G, XM_047437182.1:c.3719A>T, XM_047437175.1:c.3788A>G, XM_047437175.1:c.3788A>T, XM_047437183.1:c.3716A>G, XM_047437183.1:c.3716A>T, XM_047437184.1:c.3710A>G, XM_047437184.1:c.3710A>T, XM_047437185.1:c.3701A>G, XM_047437185.1:c.3701A>T, XM_047437186.1:c.3683A>G, XM_047437186.1:c.3683A>T, XM_047437187.1:c.3671A>G, XM_047437187.1:c.3671A>T, NP_055553.3:p.Asn1266Ser, NP_055553.3:p.Asn1266Ile, NP_001308078.1:p.Asn1270Ser, NP_001308078.1:p.Asn1270Ile, NP_001308077.1:p.Asn1276Ser, NP_001308077.1:p.Asn1276Ile, NP_001338132.1:p.Asn1275Ser, NP_001338132.1:p.Asn1275Ile, NP_001338131.1:p.Asn1250Ser, NP_001338131.1:p.Asn1250Ile, XP_011523816.1:p.Asn1310Ser, XP_011523816.1:p.Asn1310Ile, XP_016880929.1:p.Asn1296Ser, XP_016880929.1:p.Asn1296Ile, XP_005257921.1:p.Asn1280Ser, XP_005257921.1:p.Asn1280Ile, XP_016880922.1:p.Asn1320Ser, XP_016880922.1:p.Asn1320Ile, XP_016880923.1:p.Asn1319Ser, XP_016880923.1:p.Asn1319Ile, XP_016880924.1:p.Asn1316Ser, XP_016880924.1:p.Asn1316Ile, XP_016880925.1:p.Asn1310Ser, XP_016880925.1:p.Asn1310Ile, XP_016880926.1:p.Asn1306Ser, XP_016880926.1:p.Asn1306Ile, XP_016880927.1:p.Asn1304Ser, XP_016880927.1:p.Asn1304Ile, XP_016880928.1:p.Asn1300Ser, XP_016880928.1:p.Asn1300Ile, XP_016880932.1:p.Asn1290Ser, XP_016880932.1:p.Asn1290Ile, XP_016880931.1:p.Asn1290Ser, XP_016880931.1:p.Asn1290Ile, XP_016880933.1:p.Asn1289Ser, XP_016880933.1:p.Asn1289Ile, XP_016880935.1:p.Asn1264Ser, XP_016880935.1:p.Asn1264Ile, XP_016880937.1:p.Asn1260Ser, XP_016880937.1:p.Asn1260Ile, XP_047293126.1:p.Asn1270Ser, XP_047293126.1:p.Asn1270Ile, XP_047293128.1:p.Asn1266Ser, XP_047293128.1:p.Asn1266Ile, XP_047293135.1:p.Asn1250Ser, XP_047293135.1:p.Asn1250Ile, XP_047293114.1:p.Asn1306Ser, XP_047293114.1:p.Asn1306Ile, XP_047293115.1:p.Asn1300Ser, XP_047293115.1:p.Asn1300Ile, XP_047293119.1:p.Asn1284Ser, XP_047293119.1:p.Asn1284Ile, XP_047293121.1:p.Asn1280Ser, XP_047293121.1:p.Asn1280Ile, XP_047293120.1:p.Asn1280Ser, XP_047293120.1:p.Asn1280Ile, XP_047293123.1:p.Asn1276Ser, XP_047293123.1:p.Asn1276Ile, XP_047293124.1:p.Asn1275Ser, XP_047293124.1:p.Asn1275Ile, XP_047293116.1:p.Asn1294Ser, XP_047293116.1:p.Asn1294Ile, XP_047293127.1:p.Asn1269Ser, XP_047293127.1:p.Asn1269Ile, XP_047293117.1:p.Asn1289Ser, XP_047293117.1:p.Asn1289Ile, XP_047293129.1:p.Asn1265Ser, XP_047293129.1:p.Asn1265Ile, XP_047293130.1:p.Asn1264Ser, XP_047293130.1:p.Asn1264Ile, XP_047293118.1:p.Asn1286Ser, XP_047293118.1:p.Asn1286Ile, XP_047293132.1:p.Asn1260Ser, XP_047293132.1:p.Asn1260Ile, XP_047293122.1:p.Asn1279Ser, XP_047293122.1:p.Asn1279Ile, XP_047293133.1:p.Asn1254Ser, XP_047293133.1:p.Asn1254Ile, XP_047293134.1:p.Asn1253Ser, XP_047293134.1:p.Asn1253Ile, XP_047293125.1:p.Asn1274Ser, XP_047293125.1:p.Asn1274Ile, XP_047293136.1:p.Asn1249Ser, XP_047293136.1:p.Asn1249Ile, XP_047293137.1:p.Asn1244Ser, XP_047293137.1:p.Asn1244Ile, XP_047293138.1:p.Asn1240Ser, XP_047293138.1:p.Asn1240Ile, XP_047293131.1:p.Asn1263Ser, XP_047293131.1:p.Asn1263Ile, XP_047293139.1:p.Asn1239Ser, XP_047293139.1:p.Asn1239Ile, XP_047293140.1:p.Asn1237Ser, XP_047293140.1:p.Asn1237Ile, XP_047293141.1:p.Asn1234Ser, XP_047293141.1:p.Asn1234Ile, XP_047293142.1:p.Asn1228Ser, XP_047293142.1:p.Asn1228Ile, XP_047293143.1:p.Asn1224Ser, XP_047293143.1:p.Asn1224Ile

                  9.

                  rs1484709764 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    17:75491439 (GRCh38)
                    17:73487520 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:75491438:C:T
                    Gene:
                    TMEM94 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000017.11:g.75491439C>T, NC_000017.10:g.73487520C>T, NG_054884.1:g.55281C>T, NM_014738.6:c.1370C>T, NM_014738.5:c.1370C>T, NM_014738.4:c.1370C>T, NM_001321149.2:c.1370C>T, NM_001321149.1:c.1370C>T, NM_001321148.2:c.1400C>T, NM_001321148.1:c.1400C>T, NM_001351203.2:c.1400C>T, NM_001351203.1:c.1400C>T, NM_001351202.2:c.1370C>T, NM_001351202.1:c.1370C>T, XM_011525514.3:c.1370C>T, XM_011525514.2:c.1370C>T, XM_011525514.1:c.1370C>T, XM_017025440.3:c.1370C>T, XM_017025440.2:c.1370C>T, XM_017025440.1:c.1370C>T, XM_005257864.3:c.1400C>T, XM_005257864.2:c.1400C>T, XM_005257864.1:c.1400C>T, XM_017025433.2:c.1400C>T, XM_017025433.1:c.1400C>T, XM_017025434.2:c.1400C>T, XM_017025434.1:c.1400C>T, XM_017025435.2:c.1400C>T, XM_017025435.1:c.1400C>T, XM_017025436.2:c.1400C>T, XM_017025436.1:c.1400C>T, XM_017025437.2:c.1400C>T, XM_017025437.1:c.1400C>T, XM_017025438.2:c.1400C>T, XM_017025438.1:c.1400C>T, XM_017025439.2:c.1400C>T, XM_017025439.1:c.1400C>T, XM_017025443.2:c.1400C>T, XM_017025443.1:c.1400C>T, XM_017025442.2:c.1400C>T, XM_017025442.1:c.1400C>T, XM_017025444.2:c.1400C>T, XM_017025444.1:c.1400C>T, XM_017025446.2:c.1400C>T, XM_017025446.1:c.1400C>T, XM_017025448.2:c.1400C>T, XM_017025448.1:c.1400C>T, XM_047437170.1:c.1370C>T, XM_047437172.1:c.1370C>T, XM_047437179.1:c.1370C>T, XM_047437158.1:c.1370C>T, XM_047437159.1:c.1370C>T, XM_047437163.1:c.1370C>T, XM_047437165.1:c.1370C>T, XM_047437164.1:c.1370C>T, XM_047437167.1:c.1370C>T, XM_047437168.1:c.1370C>T, XM_047437160.1:c.1400C>T, XM_047437171.1:c.1370C>T, XM_047437161.1:c.1400C>T, XM_047437173.1:c.1370C>T, XM_047437174.1:c.1370C>T, XM_047437162.1:c.1400C>T, XM_047437176.1:c.1370C>T, XM_047437166.1:c.1400C>T, XM_047437177.1:c.1370C>T, XM_047437178.1:c.1370C>T, XM_047437169.1:c.1400C>T, XM_047437180.1:c.1370C>T, XM_047437181.1:c.1370C>T, XM_047437182.1:c.1370C>T, XM_047437175.1:c.1400C>T, XM_047437183.1:c.1370C>T, XM_047437184.1:c.1370C>T, XM_047437185.1:c.1370C>T, XM_047437186.1:c.1370C>T, XM_047437187.1:c.1370C>T, NP_055553.3:p.Ser457Phe, NP_001308078.1:p.Ser457Phe, NP_001308077.1:p.Ser467Phe, NP_001338132.1:p.Ser467Phe, NP_001338131.1:p.Ser457Phe, XP_011523816.1:p.Ser457Phe, XP_016880929.1:p.Ser457Phe, XP_005257921.1:p.Ser467Phe, XP_016880922.1:p.Ser467Phe, XP_016880923.1:p.Ser467Phe, XP_016880924.1:p.Ser467Phe, XP_016880925.1:p.Ser467Phe, XP_016880926.1:p.Ser467Phe, XP_016880927.1:p.Ser467Phe, XP_016880928.1:p.Ser467Phe, XP_016880932.1:p.Ser467Phe, XP_016880931.1:p.Ser467Phe, XP_016880933.1:p.Ser467Phe, XP_016880935.1:p.Ser467Phe, XP_016880937.1:p.Ser467Phe, XP_047293126.1:p.Ser457Phe, XP_047293128.1:p.Ser457Phe, XP_047293135.1:p.Ser457Phe, XP_047293114.1:p.Ser457Phe, XP_047293115.1:p.Ser457Phe, XP_047293119.1:p.Ser457Phe, XP_047293121.1:p.Ser457Phe, XP_047293120.1:p.Ser457Phe, XP_047293123.1:p.Ser457Phe, XP_047293124.1:p.Ser457Phe, XP_047293116.1:p.Ser467Phe, XP_047293127.1:p.Ser457Phe, XP_047293117.1:p.Ser467Phe, XP_047293129.1:p.Ser457Phe, XP_047293130.1:p.Ser457Phe, XP_047293118.1:p.Ser467Phe, XP_047293132.1:p.Ser457Phe, XP_047293122.1:p.Ser467Phe, XP_047293133.1:p.Ser457Phe, XP_047293134.1:p.Ser457Phe, XP_047293125.1:p.Ser467Phe, XP_047293136.1:p.Ser457Phe, XP_047293137.1:p.Ser457Phe, XP_047293138.1:p.Ser457Phe, XP_047293131.1:p.Ser467Phe, XP_047293139.1:p.Ser457Phe, XP_047293140.1:p.Ser457Phe, XP_047293141.1:p.Ser457Phe, XP_047293142.1:p.Ser457Phe, XP_047293143.1:p.Ser457Phe

                    10.

                    rs1484679608 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      17:75490238 (GRCh38)
                      17:73486319 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:75490237:A:G
                      Gene:
                      TMEM94 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000017.11:g.75490238A>G, NC_000017.10:g.73486319A>G, NG_054884.1:g.54080A>G, NM_014738.6:c.959A>G, NM_014738.5:c.959A>G, NM_014738.4:c.959A>G, NM_001321149.2:c.959A>G, NM_001321149.1:c.959A>G, NM_001321148.2:c.989A>G, NM_001321148.1:c.989A>G, NM_001351203.2:c.989A>G, NM_001351203.1:c.989A>G, NM_001351202.2:c.959A>G, NM_001351202.1:c.959A>G, XM_011525514.3:c.959A>G, XM_011525514.2:c.959A>G, XM_011525514.1:c.959A>G, XM_017025440.3:c.959A>G, XM_017025440.2:c.959A>G, XM_017025440.1:c.959A>G, XM_005257864.3:c.989A>G, XM_005257864.2:c.989A>G, XM_005257864.1:c.989A>G, XM_017025433.2:c.989A>G, XM_017025433.1:c.989A>G, XM_017025434.2:c.989A>G, XM_017025434.1:c.989A>G, XM_017025435.2:c.989A>G, XM_017025435.1:c.989A>G, XM_017025436.2:c.989A>G, XM_017025436.1:c.989A>G, XM_017025437.2:c.989A>G, XM_017025437.1:c.989A>G, XM_017025438.2:c.989A>G, XM_017025438.1:c.989A>G, XM_017025439.2:c.989A>G, XM_017025439.1:c.989A>G, XM_017025443.2:c.989A>G, XM_017025443.1:c.989A>G, XM_017025442.2:c.989A>G, XM_017025442.1:c.989A>G, XM_017025444.2:c.989A>G, XM_017025444.1:c.989A>G, XM_017025446.2:c.989A>G, XM_017025446.1:c.989A>G, XM_017025448.2:c.989A>G, XM_017025448.1:c.989A>G, XM_047437170.1:c.959A>G, XM_047437172.1:c.959A>G, XM_047437179.1:c.959A>G, XM_047437158.1:c.959A>G, XM_047437159.1:c.959A>G, XM_047437163.1:c.959A>G, XM_047437165.1:c.959A>G, XM_047437164.1:c.959A>G, XM_047437167.1:c.959A>G, XM_047437168.1:c.959A>G, XM_047437160.1:c.989A>G, XM_047437171.1:c.959A>G, XM_047437161.1:c.989A>G, XM_047437173.1:c.959A>G, XM_047437174.1:c.959A>G, XM_047437162.1:c.989A>G, XM_047437176.1:c.959A>G, XM_047437166.1:c.989A>G, XM_047437177.1:c.959A>G, XM_047437178.1:c.959A>G, XM_047437169.1:c.989A>G, XM_047437180.1:c.959A>G, XM_047437181.1:c.959A>G, XM_047437182.1:c.959A>G, XM_047437175.1:c.989A>G, XM_047437183.1:c.959A>G, XM_047437184.1:c.959A>G, XM_047437185.1:c.959A>G, XM_047437186.1:c.959A>G, XM_047437187.1:c.959A>G, NP_055553.3:p.Asn320Ser, NP_001308078.1:p.Asn320Ser, NP_001308077.1:p.Asn330Ser, NP_001338132.1:p.Asn330Ser, NP_001338131.1:p.Asn320Ser, XP_011523816.1:p.Asn320Ser, XP_016880929.1:p.Asn320Ser, XP_005257921.1:p.Asn330Ser, XP_016880922.1:p.Asn330Ser, XP_016880923.1:p.Asn330Ser, XP_016880924.1:p.Asn330Ser, XP_016880925.1:p.Asn330Ser, XP_016880926.1:p.Asn330Ser, XP_016880927.1:p.Asn330Ser, XP_016880928.1:p.Asn330Ser, XP_016880932.1:p.Asn330Ser, XP_016880931.1:p.Asn330Ser, XP_016880933.1:p.Asn330Ser, XP_016880935.1:p.Asn330Ser, XP_016880937.1:p.Asn330Ser, XP_047293126.1:p.Asn320Ser, XP_047293128.1:p.Asn320Ser, XP_047293135.1:p.Asn320Ser, XP_047293114.1:p.Asn320Ser, XP_047293115.1:p.Asn320Ser, XP_047293119.1:p.Asn320Ser, XP_047293121.1:p.Asn320Ser, XP_047293120.1:p.Asn320Ser, XP_047293123.1:p.Asn320Ser, XP_047293124.1:p.Asn320Ser, XP_047293116.1:p.Asn330Ser, XP_047293127.1:p.Asn320Ser, XP_047293117.1:p.Asn330Ser, XP_047293129.1:p.Asn320Ser, XP_047293130.1:p.Asn320Ser, XP_047293118.1:p.Asn330Ser, XP_047293132.1:p.Asn320Ser, XP_047293122.1:p.Asn330Ser, XP_047293133.1:p.Asn320Ser, XP_047293134.1:p.Asn320Ser, XP_047293125.1:p.Asn330Ser, XP_047293136.1:p.Asn320Ser, XP_047293137.1:p.Asn320Ser, XP_047293138.1:p.Asn320Ser, XP_047293131.1:p.Asn330Ser, XP_047293139.1:p.Asn320Ser, XP_047293140.1:p.Asn320Ser, XP_047293141.1:p.Asn320Ser, XP_047293142.1:p.Asn320Ser, XP_047293143.1:p.Asn320Ser

                      11.

                      rs1483807977 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C [Show Flanks]
                        Chromosome:
                        17:75490331 (GRCh38)
                        17:73486412 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:75490330:A:C
                        Gene:
                        TMEM94 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        C=0.000012/3 (GnomAD_exomes)
                        HGVS:
                        NC_000017.11:g.75490331A>C, NC_000017.10:g.73486412A>C, NG_054884.1:g.54173A>C, NM_014738.6:c.1052A>C, NM_014738.5:c.1052A>C, NM_014738.4:c.1052A>C, NM_001321149.2:c.1052A>C, NM_001321149.1:c.1052A>C, NM_001321148.2:c.1082A>C, NM_001321148.1:c.1082A>C, NM_001351203.2:c.1082A>C, NM_001351203.1:c.1082A>C, NM_001351202.2:c.1052A>C, NM_001351202.1:c.1052A>C, XM_011525514.3:c.1052A>C, XM_011525514.2:c.1052A>C, XM_011525514.1:c.1052A>C, XM_017025440.3:c.1052A>C, XM_017025440.2:c.1052A>C, XM_017025440.1:c.1052A>C, XM_005257864.3:c.1082A>C, XM_005257864.2:c.1082A>C, XM_005257864.1:c.1082A>C, XM_017025433.2:c.1082A>C, XM_017025433.1:c.1082A>C, XM_017025434.2:c.1082A>C, XM_017025434.1:c.1082A>C, XM_017025435.2:c.1082A>C, XM_017025435.1:c.1082A>C, XM_017025436.2:c.1082A>C, XM_017025436.1:c.1082A>C, XM_017025437.2:c.1082A>C, XM_017025437.1:c.1082A>C, XM_017025438.2:c.1082A>C, XM_017025438.1:c.1082A>C, XM_017025439.2:c.1082A>C, XM_017025439.1:c.1082A>C, XM_017025443.2:c.1082A>C, XM_017025443.1:c.1082A>C, XM_017025442.2:c.1082A>C, XM_017025442.1:c.1082A>C, XM_017025444.2:c.1082A>C, XM_017025444.1:c.1082A>C, XM_017025446.2:c.1082A>C, XM_017025446.1:c.1082A>C, XM_017025448.2:c.1082A>C, XM_017025448.1:c.1082A>C, XM_047437170.1:c.1052A>C, XM_047437172.1:c.1052A>C, XM_047437179.1:c.1052A>C, XM_047437158.1:c.1052A>C, XM_047437159.1:c.1052A>C, XM_047437163.1:c.1052A>C, XM_047437165.1:c.1052A>C, XM_047437164.1:c.1052A>C, XM_047437167.1:c.1052A>C, XM_047437168.1:c.1052A>C, XM_047437160.1:c.1082A>C, XM_047437171.1:c.1052A>C, XM_047437161.1:c.1082A>C, XM_047437173.1:c.1052A>C, XM_047437174.1:c.1052A>C, XM_047437162.1:c.1082A>C, XM_047437176.1:c.1052A>C, XM_047437166.1:c.1082A>C, XM_047437177.1:c.1052A>C, XM_047437178.1:c.1052A>C, XM_047437169.1:c.1082A>C, XM_047437180.1:c.1052A>C, XM_047437181.1:c.1052A>C, XM_047437182.1:c.1052A>C, XM_047437175.1:c.1082A>C, XM_047437183.1:c.1052A>C, XM_047437184.1:c.1052A>C, XM_047437185.1:c.1052A>C, XM_047437186.1:c.1052A>C, XM_047437187.1:c.1052A>C, NP_055553.3:p.Lys351Thr, NP_001308078.1:p.Lys351Thr, NP_001308077.1:p.Lys361Thr, NP_001338132.1:p.Lys361Thr, NP_001338131.1:p.Lys351Thr, XP_011523816.1:p.Lys351Thr, XP_016880929.1:p.Lys351Thr, XP_005257921.1:p.Lys361Thr, XP_016880922.1:p.Lys361Thr, XP_016880923.1:p.Lys361Thr, XP_016880924.1:p.Lys361Thr, XP_016880925.1:p.Lys361Thr, XP_016880926.1:p.Lys361Thr, XP_016880927.1:p.Lys361Thr, XP_016880928.1:p.Lys361Thr, XP_016880932.1:p.Lys361Thr, XP_016880931.1:p.Lys361Thr, XP_016880933.1:p.Lys361Thr, XP_016880935.1:p.Lys361Thr, XP_016880937.1:p.Lys361Thr, XP_047293126.1:p.Lys351Thr, XP_047293128.1:p.Lys351Thr, XP_047293135.1:p.Lys351Thr, XP_047293114.1:p.Lys351Thr, XP_047293115.1:p.Lys351Thr, XP_047293119.1:p.Lys351Thr, XP_047293121.1:p.Lys351Thr, XP_047293120.1:p.Lys351Thr, XP_047293123.1:p.Lys351Thr, XP_047293124.1:p.Lys351Thr, XP_047293116.1:p.Lys361Thr, XP_047293127.1:p.Lys351Thr, XP_047293117.1:p.Lys361Thr, XP_047293129.1:p.Lys351Thr, XP_047293130.1:p.Lys351Thr, XP_047293118.1:p.Lys361Thr, XP_047293132.1:p.Lys351Thr, XP_047293122.1:p.Lys361Thr, XP_047293133.1:p.Lys351Thr, XP_047293134.1:p.Lys351Thr, XP_047293125.1:p.Lys361Thr, XP_047293136.1:p.Lys351Thr, XP_047293137.1:p.Lys351Thr, XP_047293138.1:p.Lys351Thr, XP_047293131.1:p.Lys361Thr, XP_047293139.1:p.Lys351Thr, XP_047293140.1:p.Lys351Thr, XP_047293141.1:p.Lys351Thr, XP_047293142.1:p.Lys351Thr, XP_047293143.1:p.Lys351Thr

                        12.

                        rs1483007537 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          17:75488825 (GRCh38)
                          17:73484906 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:75488824:C:G,NC_000017.11:75488824:C:T
                          Gene:
                          TMEM94 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (GnomAD_exomes)
                          G=0.000004/1 (TOPMED)
                          T=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000017.11:g.75488825C>G, NC_000017.11:g.75488825C>T, NC_000017.10:g.73484906C>G, NC_000017.10:g.73484906C>T, NG_054884.1:g.52667C>G, NG_054884.1:g.52667C>T, NM_014738.6:c.679C>G, NM_014738.6:c.679C>T, NM_014738.5:c.679C>G, NM_014738.5:c.679C>T, NM_014738.4:c.679C>G, NM_014738.4:c.679C>T, NM_001321149.2:c.679C>G, NM_001321149.2:c.679C>T, NM_001321149.1:c.679C>G, NM_001321149.1:c.679C>T, NM_001321148.2:c.709C>G, NM_001321148.2:c.709C>T, NM_001321148.1:c.709C>G, NM_001321148.1:c.709C>T, NM_001351203.2:c.709C>G, NM_001351203.2:c.709C>T, NM_001351203.1:c.709C>G, NM_001351203.1:c.709C>T, NM_001351202.2:c.679C>G, NM_001351202.2:c.679C>T, NM_001351202.1:c.679C>G, NM_001351202.1:c.679C>T, XM_011525514.3:c.679C>G, XM_011525514.3:c.679C>T, XM_011525514.2:c.679C>G, XM_011525514.2:c.679C>T, XM_011525514.1:c.679C>G, XM_011525514.1:c.679C>T, XM_017025440.3:c.679C>G, XM_017025440.3:c.679C>T, XM_017025440.2:c.679C>G, XM_017025440.2:c.679C>T, XM_017025440.1:c.679C>G, XM_017025440.1:c.679C>T, XM_005257864.3:c.709C>G, XM_005257864.3:c.709C>T, XM_005257864.2:c.709C>G, XM_005257864.2:c.709C>T, XM_005257864.1:c.709C>G, XM_005257864.1:c.709C>T, XM_017025433.2:c.709C>G, XM_017025433.2:c.709C>T, XM_017025433.1:c.709C>G, XM_017025433.1:c.709C>T, XM_017025434.2:c.709C>G, XM_017025434.2:c.709C>T, XM_017025434.1:c.709C>G, XM_017025434.1:c.709C>T, XM_017025435.2:c.709C>G, XM_017025435.2:c.709C>T, XM_017025435.1:c.709C>G, XM_017025435.1:c.709C>T, XM_017025436.2:c.709C>G, XM_017025436.2:c.709C>T, XM_017025436.1:c.709C>G, XM_017025436.1:c.709C>T, XM_017025437.2:c.709C>G, XM_017025437.2:c.709C>T, XM_017025437.1:c.709C>G, XM_017025437.1:c.709C>T, XM_017025438.2:c.709C>G, XM_017025438.2:c.709C>T, XM_017025438.1:c.709C>G, XM_017025438.1:c.709C>T, XM_017025439.2:c.709C>G, XM_017025439.2:c.709C>T, XM_017025439.1:c.709C>G, XM_017025439.1:c.709C>T, XM_017025443.2:c.709C>G, XM_017025443.2:c.709C>T, XM_017025443.1:c.709C>G, XM_017025443.1:c.709C>T, XM_017025442.2:c.709C>G, XM_017025442.2:c.709C>T, XM_017025442.1:c.709C>G, XM_017025442.1:c.709C>T, XM_017025444.2:c.709C>G, XM_017025444.2:c.709C>T, XM_017025444.1:c.709C>G, XM_017025444.1:c.709C>T, XM_017025446.2:c.709C>G, XM_017025446.2:c.709C>T, XM_017025446.1:c.709C>G, XM_017025446.1:c.709C>T, XM_017025448.2:c.709C>G, XM_017025448.2:c.709C>T, XM_017025448.1:c.709C>G, XM_017025448.1:c.709C>T, XM_047437170.1:c.679C>G, XM_047437170.1:c.679C>T, XM_047437172.1:c.679C>G, XM_047437172.1:c.679C>T, XM_047437179.1:c.679C>G, XM_047437179.1:c.679C>T, XM_047437158.1:c.679C>G, XM_047437158.1:c.679C>T, XM_047437159.1:c.679C>G, XM_047437159.1:c.679C>T, XM_047437163.1:c.679C>G, XM_047437163.1:c.679C>T, XM_047437165.1:c.679C>G, XM_047437165.1:c.679C>T, XM_047437164.1:c.679C>G, XM_047437164.1:c.679C>T, XM_047437167.1:c.679C>G, XM_047437167.1:c.679C>T, XM_047437168.1:c.679C>G, XM_047437168.1:c.679C>T, XM_047437160.1:c.709C>G, XM_047437160.1:c.709C>T, XM_047437171.1:c.679C>G, XM_047437171.1:c.679C>T, XM_047437161.1:c.709C>G, XM_047437161.1:c.709C>T, XM_047437173.1:c.679C>G, XM_047437173.1:c.679C>T, XM_047437174.1:c.679C>G, XM_047437174.1:c.679C>T, XM_047437162.1:c.709C>G, XM_047437162.1:c.709C>T, XM_047437176.1:c.679C>G, XM_047437176.1:c.679C>T, XM_047437166.1:c.709C>G, XM_047437166.1:c.709C>T, XM_047437177.1:c.679C>G, XM_047437177.1:c.679C>T, XM_047437178.1:c.679C>G, XM_047437178.1:c.679C>T, XM_047437169.1:c.709C>G, XM_047437169.1:c.709C>T, XM_047437180.1:c.679C>G, XM_047437180.1:c.679C>T, XM_047437181.1:c.679C>G, XM_047437181.1:c.679C>T, XM_047437182.1:c.679C>G, XM_047437182.1:c.679C>T, XM_047437175.1:c.709C>G, XM_047437175.1:c.709C>T, XM_047437183.1:c.679C>G, XM_047437183.1:c.679C>T, XM_047437184.1:c.679C>G, XM_047437184.1:c.679C>T, XM_047437185.1:c.679C>G, XM_047437185.1:c.679C>T, XM_047437186.1:c.679C>G, XM_047437186.1:c.679C>T, XM_047437187.1:c.679C>G, XM_047437187.1:c.679C>T, NP_055553.3:p.Arg227Gly, NP_055553.3:p.Arg227Trp, NP_001308078.1:p.Arg227Gly, NP_001308078.1:p.Arg227Trp, NP_001308077.1:p.Arg237Gly, NP_001308077.1:p.Arg237Trp, NP_001338132.1:p.Arg237Gly, NP_001338132.1:p.Arg237Trp, NP_001338131.1:p.Arg227Gly, NP_001338131.1:p.Arg227Trp, XP_011523816.1:p.Arg227Gly, XP_011523816.1:p.Arg227Trp, XP_016880929.1:p.Arg227Gly, XP_016880929.1:p.Arg227Trp, XP_005257921.1:p.Arg237Gly, XP_005257921.1:p.Arg237Trp, XP_016880922.1:p.Arg237Gly, XP_016880922.1:p.Arg237Trp, XP_016880923.1:p.Arg237Gly, XP_016880923.1:p.Arg237Trp, XP_016880924.1:p.Arg237Gly, XP_016880924.1:p.Arg237Trp, XP_016880925.1:p.Arg237Gly, XP_016880925.1:p.Arg237Trp, XP_016880926.1:p.Arg237Gly, XP_016880926.1:p.Arg237Trp, XP_016880927.1:p.Arg237Gly, XP_016880927.1:p.Arg237Trp, XP_016880928.1:p.Arg237Gly, XP_016880928.1:p.Arg237Trp, XP_016880932.1:p.Arg237Gly, XP_016880932.1:p.Arg237Trp, XP_016880931.1:p.Arg237Gly, XP_016880931.1:p.Arg237Trp, XP_016880933.1:p.Arg237Gly, XP_016880933.1:p.Arg237Trp, XP_016880935.1:p.Arg237Gly, XP_016880935.1:p.Arg237Trp, XP_016880937.1:p.Arg237Gly, XP_016880937.1:p.Arg237Trp, XP_047293126.1:p.Arg227Gly, XP_047293126.1:p.Arg227Trp, XP_047293128.1:p.Arg227Gly, XP_047293128.1:p.Arg227Trp, XP_047293135.1:p.Arg227Gly, XP_047293135.1:p.Arg227Trp, XP_047293114.1:p.Arg227Gly, XP_047293114.1:p.Arg227Trp, XP_047293115.1:p.Arg227Gly, XP_047293115.1:p.Arg227Trp, XP_047293119.1:p.Arg227Gly, XP_047293119.1:p.Arg227Trp, XP_047293121.1:p.Arg227Gly, XP_047293121.1:p.Arg227Trp, XP_047293120.1:p.Arg227Gly, XP_047293120.1:p.Arg227Trp, XP_047293123.1:p.Arg227Gly, XP_047293123.1:p.Arg227Trp, XP_047293124.1:p.Arg227Gly, XP_047293124.1:p.Arg227Trp, XP_047293116.1:p.Arg237Gly, XP_047293116.1:p.Arg237Trp, XP_047293127.1:p.Arg227Gly, XP_047293127.1:p.Arg227Trp, XP_047293117.1:p.Arg237Gly, XP_047293117.1:p.Arg237Trp, XP_047293129.1:p.Arg227Gly, XP_047293129.1:p.Arg227Trp, XP_047293130.1:p.Arg227Gly, XP_047293130.1:p.Arg227Trp, XP_047293118.1:p.Arg237Gly, XP_047293118.1:p.Arg237Trp, XP_047293132.1:p.Arg227Gly, XP_047293132.1:p.Arg227Trp, XP_047293122.1:p.Arg237Gly, XP_047293122.1:p.Arg237Trp, XP_047293133.1:p.Arg227Gly, XP_047293133.1:p.Arg227Trp, XP_047293134.1:p.Arg227Gly, XP_047293134.1:p.Arg227Trp, XP_047293125.1:p.Arg237Gly, XP_047293125.1:p.Arg237Trp, XP_047293136.1:p.Arg227Gly, XP_047293136.1:p.Arg227Trp, XP_047293137.1:p.Arg227Gly, XP_047293137.1:p.Arg227Trp, XP_047293138.1:p.Arg227Gly, XP_047293138.1:p.Arg227Trp, XP_047293131.1:p.Arg237Gly, XP_047293131.1:p.Arg237Trp, XP_047293139.1:p.Arg227Gly, XP_047293139.1:p.Arg227Trp, XP_047293140.1:p.Arg227Gly, XP_047293140.1:p.Arg227Trp, XP_047293141.1:p.Arg227Gly, XP_047293141.1:p.Arg227Trp, XP_047293142.1:p.Arg227Gly, XP_047293142.1:p.Arg227Trp, XP_047293143.1:p.Arg227Gly, XP_047293143.1:p.Arg227Trp

                          13.

                          rs1481828770 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            17:75498295 (GRCh38)
                            17:73494376 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:75498294:A:T
                            Gene:
                            TMEM94 (Varview), MIR6785 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.75498295A>T, NC_000017.10:g.73494376A>T, NG_054884.1:g.62137A>T, NM_014738.6:c.3610A>T, NM_014738.5:c.3610A>T, NM_014738.4:c.3610A>T, NM_001321149.2:c.3622A>T, NM_001321149.1:c.3622A>T, NM_001321148.2:c.3640A>T, NM_001321148.1:c.3640A>T, NM_001351203.2:c.3637A>T, NM_001351203.1:c.3637A>T, NM_001351202.2:c.3562A>T, NM_001351202.1:c.3562A>T, NG_033152.1:g.22289T>A, XM_011525514.3:c.3652A>T, XM_011525514.2:c.3652A>T, XM_011525514.1:c.3652A>T, XM_017025440.3:c.3610A>T, XM_017025440.2:c.3610A>T, XM_017025440.1:c.3610A>T, XM_005257864.3:c.3652A>T, XM_005257864.2:c.3652A>T, XM_005257864.1:c.3652A>T, XM_017025433.2:c.3682A>T, XM_017025433.1:c.3682A>T, XM_017025434.2:c.3679A>T, XM_017025434.1:c.3679A>T, XM_017025435.2:c.3670A>T, XM_017025435.1:c.3670A>T, XM_017025436.2:c.3652A>T, XM_017025436.1:c.3652A>T, XM_017025437.2:c.3640A>T, XM_017025437.1:c.3640A>T, XM_017025438.2:c.3634A>T, XM_017025438.1:c.3634A>T, XM_017025439.2:c.3622A>T, XM_017025439.1:c.3622A>T, XM_017025443.2:c.3592A>T, XM_017025443.1:c.3592A>T, XM_017025442.2:c.3682A>T, XM_017025442.1:c.3682A>T, XM_017025444.2:c.3679A>T, XM_017025444.1:c.3679A>T, XM_017025446.2:c.3604A>T, XM_017025446.1:c.3604A>T, XM_017025448.2:c.3592A>T, XM_017025448.1:c.3592A>T, XM_047437170.1:c.3622A>T, XM_047437172.1:c.3610A>T, XM_047437179.1:c.3562A>T, XM_047437158.1:c.3640A>T, XM_047437159.1:c.3622A>T, XM_047437163.1:c.3574A>T, XM_047437165.1:c.3562A>T, XM_047437164.1:c.3652A>T, XM_047437167.1:c.3640A>T, XM_047437168.1:c.3637A>T, XM_047437160.1:c.3604A>T, XM_047437171.1:c.3619A>T, XM_047437161.1:c.3589A>T, XM_047437173.1:c.3607A>T, XM_047437174.1:c.3604A>T, XM_047437162.1:c.3670A>T, XM_047437176.1:c.3592A>T, XM_047437166.1:c.3649A>T, XM_047437177.1:c.3574A>T, XM_047437178.1:c.3571A>T, XM_047437169.1:c.3634A>T, XM_047437180.1:c.3559A>T, XM_047437181.1:c.3544A>T, XM_047437182.1:c.3532A>T, XM_047437175.1:c.3601A>T, XM_047437183.1:c.3529A>T, XM_047437184.1:c.3523A>T, XM_047437185.1:c.3514A>T, XM_047437186.1:c.3496A>T, XM_047437187.1:c.3484A>T, NP_055553.3:p.Thr1204Ser, NP_001308078.1:p.Thr1208Ser, NP_001308077.1:p.Thr1214Ser, NP_001338132.1:p.Thr1213Ser, NP_001338131.1:p.Thr1188Ser, XP_011523816.1:p.Thr1218Ser, XP_016880929.1:p.Thr1204Ser, XP_005257921.1:p.Thr1218Ser, XP_016880922.1:p.Thr1228Ser, XP_016880923.1:p.Thr1227Ser, XP_016880924.1:p.Thr1224Ser, XP_016880925.1:p.Thr1218Ser, XP_016880926.1:p.Thr1214Ser, XP_016880927.1:p.Thr1212Ser, XP_016880928.1:p.Thr1208Ser, XP_016880932.1:p.Thr1198Ser, XP_016880931.1:p.Thr1228Ser, XP_016880933.1:p.Thr1227Ser, XP_016880935.1:p.Thr1202Ser, XP_016880937.1:p.Thr1198Ser, XP_047293126.1:p.Thr1208Ser, XP_047293128.1:p.Thr1204Ser, XP_047293135.1:p.Thr1188Ser, XP_047293114.1:p.Thr1214Ser, XP_047293115.1:p.Thr1208Ser, XP_047293119.1:p.Thr1192Ser, XP_047293121.1:p.Thr1188Ser, XP_047293120.1:p.Thr1218Ser, XP_047293123.1:p.Thr1214Ser, XP_047293124.1:p.Thr1213Ser, XP_047293116.1:p.Thr1202Ser, XP_047293127.1:p.Thr1207Ser, XP_047293117.1:p.Thr1197Ser, XP_047293129.1:p.Thr1203Ser, XP_047293130.1:p.Thr1202Ser, XP_047293118.1:p.Thr1224Ser, XP_047293132.1:p.Thr1198Ser, XP_047293122.1:p.Thr1217Ser, XP_047293133.1:p.Thr1192Ser, XP_047293134.1:p.Thr1191Ser, XP_047293125.1:p.Thr1212Ser, XP_047293136.1:p.Thr1187Ser, XP_047293137.1:p.Thr1182Ser, XP_047293138.1:p.Thr1178Ser, XP_047293131.1:p.Thr1201Ser, XP_047293139.1:p.Thr1177Ser, XP_047293140.1:p.Thr1175Ser, XP_047293141.1:p.Thr1172Ser, XP_047293142.1:p.Thr1166Ser, XP_047293143.1:p.Thr1162Ser

                            14.

                            rs1479942335 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              17:75493561 (GRCh38)
                              17:73489642 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:75493560:A:G
                              Gene:
                              TMEM94 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000142/2 (ALFA)
                              G=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000017.11:g.75493561A>G, NC_000017.10:g.73489642A>G, NG_054884.1:g.57403A>G, NM_014738.6:c.2157A>G, NM_014738.5:c.2157A>G, NM_014738.4:c.2157A>G, NM_001321149.2:c.2169A>G, NM_001321149.1:c.2169A>G, NM_001321148.2:c.2187A>G, NM_001321148.1:c.2187A>G, NM_001351203.2:c.2187A>G, NM_001351203.1:c.2187A>G, NM_001351202.2:c.2109A>G, NM_001351202.1:c.2109A>G, XM_011525514.3:c.2199A>G, XM_011525514.2:c.2199A>G, XM_011525514.1:c.2199A>G, XM_017025440.3:c.2157A>G, XM_017025440.2:c.2157A>G, XM_017025440.1:c.2157A>G, XM_005257864.3:c.2199A>G, XM_005257864.2:c.2199A>G, XM_005257864.1:c.2199A>G, XM_017025433.2:c.2229A>G, XM_017025433.1:c.2229A>G, XM_017025434.2:c.2229A>G, XM_017025434.1:c.2229A>G, XM_017025435.2:c.2217A>G, XM_017025435.1:c.2217A>G, XM_017025436.2:c.2199A>G, XM_017025436.1:c.2199A>G, XM_017025437.2:c.2187A>G, XM_017025437.1:c.2187A>G, XM_017025438.2:c.2181A>G, XM_017025438.1:c.2181A>G, XM_017025439.2:c.2169A>G, XM_017025439.1:c.2169A>G, XM_017025443.2:c.2139A>G, XM_017025443.1:c.2139A>G, XM_017025442.2:c.2229A>G, XM_017025442.1:c.2229A>G, XM_017025444.2:c.2229A>G, XM_017025444.1:c.2229A>G, XM_017025446.2:c.2151A>G, XM_017025446.1:c.2151A>G, XM_017025448.2:c.2139A>G, XM_017025448.1:c.2139A>G, XM_047437170.1:c.2169A>G, XM_047437172.1:c.2157A>G, XM_047437179.1:c.2109A>G, XM_047437158.1:c.2187A>G, XM_047437159.1:c.2169A>G, XM_047437163.1:c.2121A>G, XM_047437165.1:c.2109A>G, XM_047437164.1:c.2199A>G, XM_047437167.1:c.2187A>G, XM_047437168.1:c.2187A>G, XM_047437160.1:c.2151A>G, XM_047437171.1:c.2169A>G, XM_047437161.1:c.2139A>G, XM_047437173.1:c.2157A>G, XM_047437174.1:c.2151A>G, XM_047437162.1:c.2217A>G, XM_047437176.1:c.2139A>G, XM_047437166.1:c.2199A>G, XM_047437177.1:c.2121A>G, XM_047437178.1:c.2121A>G, XM_047437169.1:c.2181A>G, XM_047437180.1:c.2109A>G, XM_047437181.1:c.2169A>G, XM_047437182.1:c.2157A>G, XM_047437175.1:c.2151A>G, XM_047437183.1:c.2157A>G, XM_047437184.1:c.2151A>G, XM_047437185.1:c.2139A>G, XM_047437186.1:c.2121A>G, XM_047437187.1:c.2109A>G

                              15.

                              rs1478964514 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                17:75493022 (GRCh38)
                                17:73489103 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:75493021:T:G
                                Gene:
                                TMEM94 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000017.11:g.75493022T>G, NC_000017.10:g.73489103T>G, NG_054884.1:g.56864T>G, NM_014738.6:c.2006T>G, NM_014738.5:c.2006T>G, NM_014738.4:c.2006T>G, NM_001321149.2:c.2018T>G, NM_001321149.1:c.2018T>G, NM_001321148.2:c.2036T>G, NM_001321148.1:c.2036T>G, NM_001351203.2:c.2036T>G, NM_001351203.1:c.2036T>G, NM_001351202.2:c.1958T>G, NM_001351202.1:c.1958T>G, XM_011525514.3:c.2018T>G, XM_011525514.2:c.2018T>G, XM_011525514.1:c.2018T>G, XM_017025440.3:c.2006T>G, XM_017025440.2:c.2006T>G, XM_017025440.1:c.2006T>G, XM_005257864.3:c.2048T>G, XM_005257864.2:c.2048T>G, XM_005257864.1:c.2048T>G, XM_017025433.2:c.2048T>G, XM_017025433.1:c.2048T>G, XM_017025434.2:c.2048T>G, XM_017025434.1:c.2048T>G, XM_017025435.2:c.2036T>G, XM_017025435.1:c.2036T>G, XM_017025436.2:c.2048T>G, XM_017025436.1:c.2048T>G, XM_017025437.2:c.2036T>G, XM_017025437.1:c.2036T>G, XM_017025438.2:c.2000T>G, XM_017025438.1:c.2000T>G, XM_017025439.2:c.1988T>G, XM_017025439.1:c.1988T>G, XM_017025443.2:c.1988T>G, XM_017025443.1:c.1988T>G, XM_017025442.2:c.2048T>G, XM_017025442.1:c.2048T>G, XM_017025444.2:c.2048T>G, XM_017025444.1:c.2048T>G, XM_017025446.2:c.2000T>G, XM_017025446.1:c.2000T>G, XM_017025448.2:c.1988T>G, XM_017025448.1:c.1988T>G, XM_047437170.1:c.2018T>G, XM_047437172.1:c.2006T>G, XM_047437179.1:c.1958T>G, XM_047437158.1:c.2006T>G, XM_047437159.1:c.2018T>G, XM_047437163.1:c.1970T>G, XM_047437165.1:c.1958T>G, XM_047437164.1:c.2018T>G, XM_047437167.1:c.2006T>G, XM_047437168.1:c.2006T>G, XM_047437160.1:c.2000T>G, XM_047437171.1:c.2018T>G, XM_047437161.1:c.1988T>G, XM_047437173.1:c.2006T>G, XM_047437174.1:c.1970T>G, XM_047437162.1:c.2036T>G, XM_047437176.1:c.1958T>G, XM_047437166.1:c.2048T>G, XM_047437177.1:c.1970T>G, XM_047437178.1:c.1970T>G, XM_047437169.1:c.2000T>G, XM_047437180.1:c.1958T>G, XM_047437181.1:c.2018T>G, XM_047437182.1:c.2006T>G, XM_047437175.1:c.2000T>G, XM_047437183.1:c.2006T>G, XM_047437184.1:c.1970T>G, XM_047437185.1:c.1958T>G, XM_047437186.1:c.1970T>G, XM_047437187.1:c.1958T>G, NP_055553.3:p.Leu669Arg, NP_001308078.1:p.Leu673Arg, NP_001308077.1:p.Leu679Arg, NP_001338132.1:p.Leu679Arg, NP_001338131.1:p.Leu653Arg, XP_011523816.1:p.Leu673Arg, XP_016880929.1:p.Leu669Arg, XP_005257921.1:p.Leu683Arg, XP_016880922.1:p.Leu683Arg, XP_016880923.1:p.Leu683Arg, XP_016880924.1:p.Leu679Arg, XP_016880925.1:p.Leu683Arg, XP_016880926.1:p.Leu679Arg, XP_016880927.1:p.Leu667Arg, XP_016880928.1:p.Leu663Arg, XP_016880932.1:p.Leu663Arg, XP_016880931.1:p.Leu683Arg, XP_016880933.1:p.Leu683Arg, XP_016880935.1:p.Leu667Arg, XP_016880937.1:p.Leu663Arg, XP_047293126.1:p.Leu673Arg, XP_047293128.1:p.Leu669Arg, XP_047293135.1:p.Leu653Arg, XP_047293114.1:p.Leu669Arg, XP_047293115.1:p.Leu673Arg, XP_047293119.1:p.Leu657Arg, XP_047293121.1:p.Leu653Arg, XP_047293120.1:p.Leu673Arg, XP_047293123.1:p.Leu669Arg, XP_047293124.1:p.Leu669Arg, XP_047293116.1:p.Leu667Arg, XP_047293127.1:p.Leu673Arg, XP_047293117.1:p.Leu663Arg, XP_047293129.1:p.Leu669Arg, XP_047293130.1:p.Leu657Arg, XP_047293118.1:p.Leu679Arg, XP_047293132.1:p.Leu653Arg, XP_047293122.1:p.Leu683Arg, XP_047293133.1:p.Leu657Arg, XP_047293134.1:p.Leu657Arg, XP_047293125.1:p.Leu667Arg, XP_047293136.1:p.Leu653Arg, XP_047293137.1:p.Leu673Arg, XP_047293138.1:p.Leu669Arg, XP_047293131.1:p.Leu667Arg, XP_047293139.1:p.Leu669Arg, XP_047293140.1:p.Leu657Arg, XP_047293141.1:p.Leu653Arg, XP_047293142.1:p.Leu657Arg, XP_047293143.1:p.Leu653Arg

                                16.

                                rs1478136169 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  17:75487968 (GRCh38)
                                  17:73484049 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:75487967:G:A,NC_000017.11:75487967:G:T
                                  Gene:
                                  TMEM94 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.75487968G>A, NC_000017.11:g.75487968G>T, NC_000017.10:g.73484049G>A, NC_000017.10:g.73484049G>T, NG_054884.1:g.51810G>A, NG_054884.1:g.51810G>T, NM_014738.6:c.446G>A, NM_014738.6:c.446G>T, NM_014738.5:c.446G>A, NM_014738.5:c.446G>T, NM_014738.4:c.446G>A, NM_014738.4:c.446G>T, NM_001321149.2:c.446G>A, NM_001321149.2:c.446G>T, NM_001321149.1:c.446G>A, NM_001321149.1:c.446G>T, NM_001321148.2:c.476G>A, NM_001321148.2:c.476G>T, NM_001321148.1:c.476G>A, NM_001321148.1:c.476G>T, NM_001351203.2:c.476G>A, NM_001351203.2:c.476G>T, NM_001351203.1:c.476G>A, NM_001351203.1:c.476G>T, NM_001351202.2:c.446G>A, NM_001351202.2:c.446G>T, NM_001351202.1:c.446G>A, NM_001351202.1:c.446G>T, XM_011525514.3:c.446G>A, XM_011525514.3:c.446G>T, XM_011525514.2:c.446G>A, XM_011525514.2:c.446G>T, XM_011525514.1:c.446G>A, XM_011525514.1:c.446G>T, XM_017025440.3:c.446G>A, XM_017025440.3:c.446G>T, XM_017025440.2:c.446G>A, XM_017025440.2:c.446G>T, XM_017025440.1:c.446G>A, XM_017025440.1:c.446G>T, XM_005257864.3:c.476G>A, XM_005257864.3:c.476G>T, XM_005257864.2:c.476G>A, XM_005257864.2:c.476G>T, XM_005257864.1:c.476G>A, XM_005257864.1:c.476G>T, XM_017025433.2:c.476G>A, XM_017025433.2:c.476G>T, XM_017025433.1:c.476G>A, XM_017025433.1:c.476G>T, XM_017025434.2:c.476G>A, XM_017025434.2:c.476G>T, XM_017025434.1:c.476G>A, XM_017025434.1:c.476G>T, XM_017025435.2:c.476G>A, XM_017025435.2:c.476G>T, XM_017025435.1:c.476G>A, XM_017025435.1:c.476G>T, XM_017025436.2:c.476G>A, XM_017025436.2:c.476G>T, XM_017025436.1:c.476G>A, XM_017025436.1:c.476G>T, XM_017025437.2:c.476G>A, XM_017025437.2:c.476G>T, XM_017025437.1:c.476G>A, XM_017025437.1:c.476G>T, XM_017025438.2:c.476G>A, XM_017025438.2:c.476G>T, XM_017025438.1:c.476G>A, XM_017025438.1:c.476G>T, XM_017025439.2:c.476G>A, XM_017025439.2:c.476G>T, XM_017025439.1:c.476G>A, XM_017025439.1:c.476G>T, XM_017025443.2:c.476G>A, XM_017025443.2:c.476G>T, XM_017025443.1:c.476G>A, XM_017025443.1:c.476G>T, XM_017025442.2:c.476G>A, XM_017025442.2:c.476G>T, XM_017025442.1:c.476G>A, XM_017025442.1:c.476G>T, XM_017025444.2:c.476G>A, XM_017025444.2:c.476G>T, XM_017025444.1:c.476G>A, XM_017025444.1:c.476G>T, XM_017025446.2:c.476G>A, XM_017025446.2:c.476G>T, XM_017025446.1:c.476G>A, XM_017025446.1:c.476G>T, XM_017025448.2:c.476G>A, XM_017025448.2:c.476G>T, XM_017025448.1:c.476G>A, XM_017025448.1:c.476G>T, XM_047437170.1:c.446G>A, XM_047437170.1:c.446G>T, XM_047437172.1:c.446G>A, XM_047437172.1:c.446G>T, XM_047437179.1:c.446G>A, XM_047437179.1:c.446G>T, XM_047437158.1:c.446G>A, XM_047437158.1:c.446G>T, XM_047437159.1:c.446G>A, XM_047437159.1:c.446G>T, XM_047437163.1:c.446G>A, XM_047437163.1:c.446G>T, XM_047437165.1:c.446G>A, XM_047437165.1:c.446G>T, XM_047437164.1:c.446G>A, XM_047437164.1:c.446G>T, XM_047437167.1:c.446G>A, XM_047437167.1:c.446G>T, XM_047437168.1:c.446G>A, XM_047437168.1:c.446G>T, XM_047437160.1:c.476G>A, XM_047437160.1:c.476G>T, XM_047437171.1:c.446G>A, XM_047437171.1:c.446G>T, XM_047437161.1:c.476G>A, XM_047437161.1:c.476G>T, XM_047437173.1:c.446G>A, XM_047437173.1:c.446G>T, XM_047437174.1:c.446G>A, XM_047437174.1:c.446G>T, XM_047437162.1:c.476G>A, XM_047437162.1:c.476G>T, XM_047437176.1:c.446G>A, XM_047437176.1:c.446G>T, XM_047437166.1:c.476G>A, XM_047437166.1:c.476G>T, XM_047437177.1:c.446G>A, XM_047437177.1:c.446G>T, XM_047437178.1:c.446G>A, XM_047437178.1:c.446G>T, XM_047437169.1:c.476G>A, XM_047437169.1:c.476G>T, XM_047437180.1:c.446G>A, XM_047437180.1:c.446G>T, XM_047437181.1:c.446G>A, XM_047437181.1:c.446G>T, XM_047437182.1:c.446G>A, XM_047437182.1:c.446G>T, XM_047437175.1:c.476G>A, XM_047437175.1:c.476G>T, XM_047437183.1:c.446G>A, XM_047437183.1:c.446G>T, XM_047437184.1:c.446G>A, XM_047437184.1:c.446G>T, XM_047437185.1:c.446G>A, XM_047437185.1:c.446G>T, XM_047437186.1:c.446G>A, XM_047437186.1:c.446G>T, XM_047437187.1:c.446G>A, XM_047437187.1:c.446G>T, NP_055553.3:p.Ser149Asn, NP_055553.3:p.Ser149Ile, NP_001308078.1:p.Ser149Asn, NP_001308078.1:p.Ser149Ile, NP_001308077.1:p.Ser159Asn, NP_001308077.1:p.Ser159Ile, NP_001338132.1:p.Ser159Asn, NP_001338132.1:p.Ser159Ile, NP_001338131.1:p.Ser149Asn, NP_001338131.1:p.Ser149Ile, XP_011523816.1:p.Ser149Asn, XP_011523816.1:p.Ser149Ile, XP_016880929.1:p.Ser149Asn, XP_016880929.1:p.Ser149Ile, XP_005257921.1:p.Ser159Asn, XP_005257921.1:p.Ser159Ile, XP_016880922.1:p.Ser159Asn, XP_016880922.1:p.Ser159Ile, XP_016880923.1:p.Ser159Asn, XP_016880923.1:p.Ser159Ile, XP_016880924.1:p.Ser159Asn, XP_016880924.1:p.Ser159Ile, XP_016880925.1:p.Ser159Asn, XP_016880925.1:p.Ser159Ile, XP_016880926.1:p.Ser159Asn, XP_016880926.1:p.Ser159Ile, XP_016880927.1:p.Ser159Asn, XP_016880927.1:p.Ser159Ile, XP_016880928.1:p.Ser159Asn, XP_016880928.1:p.Ser159Ile, XP_016880932.1:p.Ser159Asn, XP_016880932.1:p.Ser159Ile, XP_016880931.1:p.Ser159Asn, XP_016880931.1:p.Ser159Ile, XP_016880933.1:p.Ser159Asn, XP_016880933.1:p.Ser159Ile, XP_016880935.1:p.Ser159Asn, XP_016880935.1:p.Ser159Ile, XP_016880937.1:p.Ser159Asn, XP_016880937.1:p.Ser159Ile, XP_047293126.1:p.Ser149Asn, XP_047293126.1:p.Ser149Ile, XP_047293128.1:p.Ser149Asn, XP_047293128.1:p.Ser149Ile, XP_047293135.1:p.Ser149Asn, XP_047293135.1:p.Ser149Ile, XP_047293114.1:p.Ser149Asn, XP_047293114.1:p.Ser149Ile, XP_047293115.1:p.Ser149Asn, XP_047293115.1:p.Ser149Ile, XP_047293119.1:p.Ser149Asn, XP_047293119.1:p.Ser149Ile, XP_047293121.1:p.Ser149Asn, XP_047293121.1:p.Ser149Ile, XP_047293120.1:p.Ser149Asn, XP_047293120.1:p.Ser149Ile, XP_047293123.1:p.Ser149Asn, XP_047293123.1:p.Ser149Ile, XP_047293124.1:p.Ser149Asn, XP_047293124.1:p.Ser149Ile, XP_047293116.1:p.Ser159Asn, XP_047293116.1:p.Ser159Ile, XP_047293127.1:p.Ser149Asn, XP_047293127.1:p.Ser149Ile, XP_047293117.1:p.Ser159Asn, XP_047293117.1:p.Ser159Ile, XP_047293129.1:p.Ser149Asn, XP_047293129.1:p.Ser149Ile, XP_047293130.1:p.Ser149Asn, XP_047293130.1:p.Ser149Ile, XP_047293118.1:p.Ser159Asn, XP_047293118.1:p.Ser159Ile, XP_047293132.1:p.Ser149Asn, XP_047293132.1:p.Ser149Ile, XP_047293122.1:p.Ser159Asn, XP_047293122.1:p.Ser159Ile, XP_047293133.1:p.Ser149Asn, XP_047293133.1:p.Ser149Ile, XP_047293134.1:p.Ser149Asn, XP_047293134.1:p.Ser149Ile, XP_047293125.1:p.Ser159Asn, XP_047293125.1:p.Ser159Ile, XP_047293136.1:p.Ser149Asn, XP_047293136.1:p.Ser149Ile, XP_047293137.1:p.Ser149Asn, XP_047293137.1:p.Ser149Ile, XP_047293138.1:p.Ser149Asn, XP_047293138.1:p.Ser149Ile, XP_047293131.1:p.Ser159Asn, XP_047293131.1:p.Ser159Ile, XP_047293139.1:p.Ser149Asn, XP_047293139.1:p.Ser149Ile, XP_047293140.1:p.Ser149Asn, XP_047293140.1:p.Ser149Ile, XP_047293141.1:p.Ser149Asn, XP_047293141.1:p.Ser149Ile, XP_047293142.1:p.Ser149Asn, XP_047293142.1:p.Ser149Ile, XP_047293143.1:p.Ser149Asn, XP_047293143.1:p.Ser149Ile

                                  17.

                                  rs1476643785 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    17:75492698 (GRCh38)
                                    17:73488779 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:75492697:C:T
                                    Gene:
                                    TMEM94 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.75492698C>T, NC_000017.10:g.73488779C>T, NG_054884.1:g.56540C>T, NM_014738.6:c.1821C>T, NM_014738.5:c.1821C>T, NM_014738.4:c.1821C>T, NM_001321149.2:c.1833C>T, NM_001321149.1:c.1833C>T, NM_001321148.2:c.1851C>T, NM_001321148.1:c.1851C>T, NM_001351203.2:c.1851C>T, NM_001351203.1:c.1851C>T, NM_001351202.2:c.1773C>T, NM_001351202.1:c.1773C>T, XM_011525514.3:c.1833C>T, XM_011525514.2:c.1833C>T, XM_011525514.1:c.1833C>T, XM_017025440.3:c.1821C>T, XM_017025440.2:c.1821C>T, XM_017025440.1:c.1821C>T, XM_005257864.3:c.1863C>T, XM_005257864.2:c.1863C>T, XM_005257864.1:c.1863C>T, XM_017025433.2:c.1863C>T, XM_017025433.1:c.1863C>T, XM_017025434.2:c.1863C>T, XM_017025434.1:c.1863C>T, XM_017025435.2:c.1851C>T, XM_017025435.1:c.1851C>T, XM_017025436.2:c.1863C>T, XM_017025436.1:c.1863C>T, XM_017025437.2:c.1851C>T, XM_017025437.1:c.1851C>T, XM_017025438.2:c.1815C>T, XM_017025438.1:c.1815C>T, XM_017025439.2:c.1803C>T, XM_017025439.1:c.1803C>T, XM_017025443.2:c.1803C>T, XM_017025443.1:c.1803C>T, XM_017025442.2:c.1863C>T, XM_017025442.1:c.1863C>T, XM_017025444.2:c.1863C>T, XM_017025444.1:c.1863C>T, XM_017025446.2:c.1815C>T, XM_017025446.1:c.1815C>T, XM_017025448.2:c.1803C>T, XM_017025448.1:c.1803C>T, XM_047437170.1:c.1833C>T, XM_047437172.1:c.1821C>T, XM_047437179.1:c.1773C>T, XM_047437158.1:c.1821C>T, XM_047437159.1:c.1833C>T, XM_047437163.1:c.1785C>T, XM_047437165.1:c.1773C>T, XM_047437164.1:c.1833C>T, XM_047437167.1:c.1821C>T, XM_047437168.1:c.1821C>T, XM_047437160.1:c.1815C>T, XM_047437171.1:c.1833C>T, XM_047437161.1:c.1803C>T, XM_047437173.1:c.1821C>T, XM_047437174.1:c.1785C>T, XM_047437162.1:c.1851C>T, XM_047437176.1:c.1773C>T, XM_047437166.1:c.1863C>T, XM_047437177.1:c.1785C>T, XM_047437178.1:c.1785C>T, XM_047437169.1:c.1815C>T, XM_047437180.1:c.1773C>T, XM_047437181.1:c.1833C>T, XM_047437182.1:c.1821C>T, XM_047437175.1:c.1815C>T, XM_047437183.1:c.1821C>T, XM_047437184.1:c.1785C>T, XM_047437185.1:c.1773C>T, XM_047437186.1:c.1785C>T, XM_047437187.1:c.1773C>T

                                    18.

                                    rs1476439548 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      17:75496290 (GRCh38)
                                      17:73492371 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:75496289:T:C
                                      Gene:
                                      TMEM94 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      C=0.000035/1 (TOMMO)
                                      HGVS:
                                      NC_000017.11:g.75496290T>C, NC_000017.10:g.73492371T>C, NG_054884.1:g.60132T>C, NM_014738.6:c.3062T>C, NM_014738.5:c.3062T>C, NM_014738.4:c.3062T>C, NM_001321149.2:c.3074T>C, NM_001321149.1:c.3074T>C, NM_001321148.2:c.3092T>C, NM_001321148.1:c.3092T>C, NM_001351203.2:c.3089T>C, NM_001351203.1:c.3089T>C, NM_001351202.2:c.3014T>C, NM_001351202.1:c.3014T>C, XM_011525514.3:c.3104T>C, XM_011525514.2:c.3104T>C, XM_011525514.1:c.3104T>C, XM_017025440.3:c.3062T>C, XM_017025440.2:c.3062T>C, XM_017025440.1:c.3062T>C, XM_005257864.3:c.3104T>C, XM_005257864.2:c.3104T>C, XM_005257864.1:c.3104T>C, XM_017025433.2:c.3134T>C, XM_017025433.1:c.3134T>C, XM_017025434.2:c.3131T>C, XM_017025434.1:c.3131T>C, XM_017025435.2:c.3122T>C, XM_017025435.1:c.3122T>C, XM_017025436.2:c.3104T>C, XM_017025436.1:c.3104T>C, XM_017025437.2:c.3092T>C, XM_017025437.1:c.3092T>C, XM_017025438.2:c.3086T>C, XM_017025438.1:c.3086T>C, XM_017025439.2:c.3074T>C, XM_017025439.1:c.3074T>C, XM_017025443.2:c.3044T>C, XM_017025443.1:c.3044T>C, XM_017025442.2:c.3134T>C, XM_017025442.1:c.3134T>C, XM_017025444.2:c.3131T>C, XM_017025444.1:c.3131T>C, XM_017025446.2:c.3056T>C, XM_017025446.1:c.3056T>C, XM_017025448.2:c.3044T>C, XM_017025448.1:c.3044T>C, XM_047437170.1:c.3074T>C, XM_047437172.1:c.3062T>C, XM_047437179.1:c.3014T>C, XM_047437158.1:c.3092T>C, XM_047437159.1:c.3074T>C, XM_047437163.1:c.3026T>C, XM_047437165.1:c.3014T>C, XM_047437164.1:c.3104T>C, XM_047437167.1:c.3092T>C, XM_047437168.1:c.3089T>C, XM_047437160.1:c.3056T>C, XM_047437171.1:c.3071T>C, XM_047437161.1:c.3041T>C, XM_047437173.1:c.3059T>C, XM_047437174.1:c.3056T>C, XM_047437162.1:c.3122T>C, XM_047437176.1:c.3044T>C, XM_047437166.1:c.3101T>C, XM_047437177.1:c.3026T>C, XM_047437178.1:c.3023T>C, XM_047437169.1:c.3086T>C, XM_047437180.1:c.3011T>C, XM_047437181.1:c.3074T>C, XM_047437182.1:c.3062T>C, XM_047437175.1:c.3053T>C, XM_047437183.1:c.3059T>C, XM_047437184.1:c.3053T>C, XM_047437185.1:c.3044T>C, XM_047437186.1:c.3026T>C, XM_047437187.1:c.3014T>C, NP_055553.3:p.Leu1021Pro, NP_001308078.1:p.Leu1025Pro, NP_001308077.1:p.Leu1031Pro, NP_001338132.1:p.Leu1030Pro, NP_001338131.1:p.Leu1005Pro, XP_011523816.1:p.Leu1035Pro, XP_016880929.1:p.Leu1021Pro, XP_005257921.1:p.Leu1035Pro, XP_016880922.1:p.Leu1045Pro, XP_016880923.1:p.Leu1044Pro, XP_016880924.1:p.Leu1041Pro, XP_016880925.1:p.Leu1035Pro, XP_016880926.1:p.Leu1031Pro, XP_016880927.1:p.Leu1029Pro, XP_016880928.1:p.Leu1025Pro, XP_016880932.1:p.Leu1015Pro, XP_016880931.1:p.Leu1045Pro, XP_016880933.1:p.Leu1044Pro, XP_016880935.1:p.Leu1019Pro, XP_016880937.1:p.Leu1015Pro, XP_047293126.1:p.Leu1025Pro, XP_047293128.1:p.Leu1021Pro, XP_047293135.1:p.Leu1005Pro, XP_047293114.1:p.Leu1031Pro, XP_047293115.1:p.Leu1025Pro, XP_047293119.1:p.Leu1009Pro, XP_047293121.1:p.Leu1005Pro, XP_047293120.1:p.Leu1035Pro, XP_047293123.1:p.Leu1031Pro, XP_047293124.1:p.Leu1030Pro, XP_047293116.1:p.Leu1019Pro, XP_047293127.1:p.Leu1024Pro, XP_047293117.1:p.Leu1014Pro, XP_047293129.1:p.Leu1020Pro, XP_047293130.1:p.Leu1019Pro, XP_047293118.1:p.Leu1041Pro, XP_047293132.1:p.Leu1015Pro, XP_047293122.1:p.Leu1034Pro, XP_047293133.1:p.Leu1009Pro, XP_047293134.1:p.Leu1008Pro, XP_047293125.1:p.Leu1029Pro, XP_047293136.1:p.Leu1004Pro, XP_047293137.1:p.Leu1025Pro, XP_047293138.1:p.Leu1021Pro, XP_047293131.1:p.Leu1018Pro, XP_047293139.1:p.Leu1020Pro, XP_047293140.1:p.Leu1018Pro, XP_047293141.1:p.Leu1015Pro, XP_047293142.1:p.Leu1009Pro, XP_047293143.1:p.Leu1005Pro

                                      19.

                                      rs1475321674 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        17:75498308 (GRCh38)
                                        17:73494389 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:75498307:CC:C
                                        Gene:
                                        TMEM94 (Varview), MIR6785 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,2KB_upstream_variant,frameshift_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        CC=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.75498309del, NC_000017.10:g.73494390del, NG_054884.1:g.62151del, NM_014738.6:c.3624del, NM_014738.5:c.3624del, NM_014738.4:c.3624del, NM_001321149.2:c.3636del, NM_001321149.1:c.3636del, NM_001321148.2:c.3654del, NM_001321148.1:c.3654del, NM_001351203.2:c.3651del, NM_001351203.1:c.3651del, NM_001351202.2:c.3576del, NM_001351202.1:c.3576del, NG_033152.1:g.22276del, XM_011525514.3:c.3666del, XM_011525514.2:c.3666del, XM_011525514.1:c.3666del, XM_017025440.3:c.3624del, XM_017025440.2:c.3624del, XM_017025440.1:c.3624del, XM_005257864.3:c.3666del, XM_005257864.2:c.3666del, XM_005257864.1:c.3666del, XM_017025433.2:c.3696del, XM_017025433.1:c.3696del, XM_017025434.2:c.3693del, XM_017025434.1:c.3693del, XM_017025435.2:c.3684del, XM_017025435.1:c.3684del, XM_017025436.2:c.3666del, XM_017025436.1:c.3666del, XM_017025437.2:c.3654del, XM_017025437.1:c.3654del, XM_017025438.2:c.3648del, XM_017025438.1:c.3648del, XM_017025439.2:c.3636del, XM_017025439.1:c.3636del, XM_017025443.2:c.3606del, XM_017025443.1:c.3606del, XM_017025442.2:c.3696del, XM_017025442.1:c.3696del, XM_017025444.2:c.3693del, XM_017025444.1:c.3693del, XM_017025446.2:c.3618del, XM_017025446.1:c.3618del, XM_017025448.2:c.3606del, XM_017025448.1:c.3606del, XM_047437170.1:c.3636del, XM_047437172.1:c.3624del, XM_047437179.1:c.3576del, XM_047437158.1:c.3654del, XM_047437159.1:c.3636del, XM_047437163.1:c.3588del, XM_047437165.1:c.3576del, XM_047437164.1:c.3666del, XM_047437167.1:c.3654del, XM_047437168.1:c.3651del, XM_047437160.1:c.3618del, XM_047437171.1:c.3633del, XM_047437161.1:c.3603del, XM_047437173.1:c.3621del, XM_047437174.1:c.3618del, XM_047437162.1:c.3684del, XM_047437176.1:c.3606del, XM_047437166.1:c.3663del, XM_047437177.1:c.3588del, XM_047437178.1:c.3585del, XM_047437169.1:c.3648del, XM_047437180.1:c.3573del, XM_047437181.1:c.3558del, XM_047437182.1:c.3546del, XM_047437175.1:c.3615del, XM_047437183.1:c.3543del, XM_047437184.1:c.3537del, XM_047437185.1:c.3528del, XM_047437186.1:c.3510del, XM_047437187.1:c.3498del, NP_055553.3:p.Val1209fs, NP_001308078.1:p.Val1213fs, NP_001308077.1:p.Val1219fs, NP_001338132.1:p.Val1218fs, NP_001338131.1:p.Val1193fs, XP_011523816.1:p.Val1223fs, XP_016880929.1:p.Val1209fs, XP_005257921.1:p.Val1223fs, XP_016880922.1:p.Val1233fs, XP_016880923.1:p.Val1232fs, XP_016880924.1:p.Val1229fs, XP_016880925.1:p.Val1223fs, XP_016880926.1:p.Val1219fs, XP_016880927.1:p.Val1217fs, XP_016880928.1:p.Val1213fs, XP_016880932.1:p.Val1203fs, XP_016880931.1:p.Val1233fs, XP_016880933.1:p.Val1232fs, XP_016880935.1:p.Val1207fs, XP_016880937.1:p.Val1203fs, XP_047293126.1:p.Val1213fs, XP_047293128.1:p.Val1209fs, XP_047293135.1:p.Val1193fs, XP_047293114.1:p.Val1219fs, XP_047293115.1:p.Val1213fs, XP_047293119.1:p.Val1197fs, XP_047293121.1:p.Val1193fs, XP_047293120.1:p.Val1223fs, XP_047293123.1:p.Val1219fs, XP_047293124.1:p.Val1218fs, XP_047293116.1:p.Val1207fs, XP_047293127.1:p.Val1212fs, XP_047293117.1:p.Val1202fs, XP_047293129.1:p.Val1208fs, XP_047293130.1:p.Val1207fs, XP_047293118.1:p.Val1229fs, XP_047293132.1:p.Val1203fs, XP_047293122.1:p.Val1222fs, XP_047293133.1:p.Val1197fs, XP_047293134.1:p.Val1196fs, XP_047293125.1:p.Val1217fs, XP_047293136.1:p.Val1192fs, XP_047293137.1:p.Val1187fs, XP_047293138.1:p.Val1183fs, XP_047293131.1:p.Val1206fs, XP_047293139.1:p.Val1182fs, XP_047293140.1:p.Val1180fs, XP_047293141.1:p.Val1177fs, XP_047293142.1:p.Val1171fs, XP_047293143.1:p.Val1167fs

                                        20.

                                        rs1473271795 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          17:75485463 (GRCh38)
                                          17:73481544 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:75485462:G:A
                                          Gene:
                                          TMEM94 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000017.11:g.75485463G>A, NC_000017.10:g.73481544G>A, NG_054884.1:g.49305G>A, NM_014738.6:c.60G>A, NM_014738.5:c.60G>A, NM_014738.4:c.60G>A, NM_001321149.2:c.60G>A, NM_001321149.1:c.60G>A, NM_001321148.2:c.90G>A, NM_001321148.1:c.90G>A, NM_001351203.2:c.90G>A, NM_001351203.1:c.90G>A, NM_001351202.2:c.60G>A, NM_001351202.1:c.60G>A, XM_011525514.3:c.60G>A, XM_011525514.2:c.60G>A, XM_011525514.1:c.60G>A, XM_017025440.3:c.60G>A, XM_017025440.2:c.60G>A, XM_017025440.1:c.60G>A, XM_005257864.3:c.90G>A, XM_005257864.2:c.90G>A, XM_005257864.1:c.90G>A, XM_017025433.2:c.90G>A, XM_017025433.1:c.90G>A, XM_017025434.2:c.90G>A, XM_017025434.1:c.90G>A, XM_017025435.2:c.90G>A, XM_017025435.1:c.90G>A, XM_017025436.2:c.90G>A, XM_017025436.1:c.90G>A, XM_017025437.2:c.90G>A, XM_017025437.1:c.90G>A, XM_017025438.2:c.90G>A, XM_017025438.1:c.90G>A, XM_017025439.2:c.90G>A, XM_017025439.1:c.90G>A, XM_017025443.2:c.90G>A, XM_017025443.1:c.90G>A, XM_017025442.2:c.90G>A, XM_017025442.1:c.90G>A, XM_017025444.2:c.90G>A, XM_017025444.1:c.90G>A, XM_017025446.2:c.90G>A, XM_017025446.1:c.90G>A, XM_017025448.2:c.90G>A, XM_017025448.1:c.90G>A, XM_047437170.1:c.60G>A, XM_047437172.1:c.60G>A, XM_047437179.1:c.60G>A, XM_047437158.1:c.60G>A, XM_047437159.1:c.60G>A, XM_047437163.1:c.60G>A, XM_047437165.1:c.60G>A, XM_047437164.1:c.60G>A, XM_047437167.1:c.60G>A, XM_047437168.1:c.60G>A, XM_047437160.1:c.90G>A, XM_047437171.1:c.60G>A, XM_047437161.1:c.90G>A, XM_047437173.1:c.60G>A, XM_047437174.1:c.60G>A, XM_047437162.1:c.90G>A, XM_047437176.1:c.60G>A, XM_047437166.1:c.90G>A, XM_047437177.1:c.60G>A, XM_047437178.1:c.60G>A, XM_047437169.1:c.90G>A, XM_047437180.1:c.60G>A, XM_047437181.1:c.60G>A, XM_047437182.1:c.60G>A, XM_047437175.1:c.90G>A, XM_047437183.1:c.60G>A, XM_047437184.1:c.60G>A, XM_047437185.1:c.60G>A, XM_047437186.1:c.60G>A, XM_047437187.1:c.60G>A

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...