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 186

1.

rs1484877412 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    G>- [Show Flanks]
    Chromosome:
    22:50769483 (GRCh38)
    22:51207911 (GRCh37)
    Canonical SPDI:
    NC_000022.11:50769482:G:
    Gene:
    RABL2B (Varview), RPL23AP82 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    -=0.000004/1 (TOPMED)
    HGVS:
    NC_000022.11:g.50769483del, NC_000022.10:g.51207911del, NW_004070876.1:g.4558del, NM_007081.4:c.476del, NM_007081.3:c.476del, NM_007081.2:c.476del, NM_001130921.3:c.479del, NM_001130921.2:c.479del, NM_001130921.1:c.479del, NM_001130923.3:c.476del, NM_001130923.2:c.476del, NM_001130923.1:c.476del, NM_001130920.3:c.479del, NM_001130920.2:c.479del, NM_001130920.1:c.479del, NM_001003789.3:c.479del, NM_001003789.2:c.479del, NM_001003789.1:c.479del, NM_001130922.3:c.476del, NM_001130922.2:c.476del, NM_001130922.1:c.476del, NM_001130919.3:c.479del, NM_001130919.2:c.479del, NM_001130919.1:c.479del, XM_017028543.2:c.479del, XM_017028543.1:c.479del, XM_017028547.2:c.476del, XM_017028547.1:c.476del, XM_017028552.2:c.479del, XM_017028552.1:c.479del, XM_017028556.2:c.476del, XM_017028556.1:c.476del, XM_017028544.2:c.479del, XM_017028544.1:c.479del, NM_001350004.2:c.479del, NM_001350004.1:c.479del, NM_001350009.2:c.479del, NM_001350009.1:c.479del, NM_001350014.2:c.476del, NM_001350014.1:c.476del, XM_017028546.2:c.479del, XM_017028546.1:c.479del, NM_001350012.2:c.479del, NM_001350012.1:c.479del, NM_001350013.2:c.476del, NM_001350013.1:c.476del, NM_001350017.2:c.479del, NM_001350017.1:c.479del, NM_001350007.2:c.476del, NM_001350007.1:c.476del, NM_001350003.2:c.479del, NM_001350003.1:c.479del, NM_001350005.2:c.476del, NM_001350005.1:c.476del, NM_001350008.2:c.479del, NM_001350008.1:c.479del, NM_001350016.2:c.479del, NM_001350016.1:c.479del, NM_001350006.2:c.476del, NM_001350006.1:c.476del, XM_017028551.2:c.476del, XM_017028551.1:c.476del, NM_001350011.2:c.479del, NM_001350011.1:c.479del, NM_001350010.2:c.479del, NM_001350010.1:c.479del, NM_001350015.2:c.476del, NM_001350015.1:c.476del, XM_047441085.1:c.479del, XM_047441088.1:c.476del, XM_047441090.1:c.479del, XM_047441095.1:c.479del, XM_047441098.1:c.476del, XM_047441091.1:c.479del, XM_047441099.1:c.476del, XM_047441096.1:c.479del, XM_047441093.1:c.479del, XM_047441094.1:c.476del, NM_001394054.1:c.479del, XM_047441086.1:c.479del, NM_001394055.1:c.479del, XM_047441100.1:c.476del, XM_047441087.1:c.479del, XM_047441097.1:c.479del, XM_047441089.1:c.476del, XM_047441092.1:c.479del, XM_047441101.1:c.476del, NP_009012.1:p.Ser159fs, NP_001124393.1:p.Ser160fs, NP_001124395.1:p.Ser159fs, NP_001124392.1:p.Ser160fs, NP_001003789.1:p.Ser160fs, NP_001124394.1:p.Ser159fs, NP_001124391.1:p.Ser160fs, XP_016884032.1:p.Ser160fs, XP_016884036.1:p.Ser159fs, XP_016884041.1:p.Ser160fs, XP_016884045.1:p.Ser159fs, XP_016884033.1:p.Ser160fs, NP_001336933.1:p.Ser160fs, NP_001336938.1:p.Ser160fs, NP_001336943.1:p.Ser159fs, XP_016884035.1:p.Ser160fs, NP_001336941.1:p.Ser160fs, NP_001336942.1:p.Ser159fs, NP_001336946.1:p.Ser160fs, NP_001336936.1:p.Ser159fs, NP_001336932.1:p.Ser160fs, NP_001336934.1:p.Ser159fs, NP_001336937.1:p.Ser160fs, NP_001336945.1:p.Ser160fs, NP_001336935.1:p.Ser159fs, XP_016884040.1:p.Ser159fs, NP_001336940.1:p.Ser160fs, NP_001336939.1:p.Ser160fs, NP_001336944.1:p.Ser159fs, XP_047297041.1:p.Ser160fs, XP_047297044.1:p.Ser159fs, XP_047297046.1:p.Ser160fs, XP_047297051.1:p.Ser160fs, XP_047297054.1:p.Ser159fs, XP_047297047.1:p.Ser160fs, XP_047297055.1:p.Ser159fs, XP_047297052.1:p.Ser160fs, XP_047297049.1:p.Ser160fs, XP_047297050.1:p.Ser159fs, NP_001380983.1:p.Ser160fs, XP_047297042.1:p.Ser160fs, NP_001380984.1:p.Ser160fs, XP_047297056.1:p.Ser159fs, XP_047297043.1:p.Ser160fs, XP_047297053.1:p.Ser160fs, XP_047297045.1:p.Ser159fs, XP_047297048.1:p.Ser160fs, XP_047297057.1:p.Ser159fs

    2.

    rs1477324676 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G,T [Show Flanks]
      Chromosome:
      22:50769066 (GRCh38)
      22:51207494 (GRCh37)
      Canonical SPDI:
      NC_000022.11:50769065:A:G,NC_000022.11:50769065:A:T
      Gene:
      RABL2B (Varview), RPL23AP82 (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/1 (GnomAD)
      T=0.000011/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.50769066A>G, NC_000022.11:g.50769066A>T, NC_000022.10:g.51207494A>G, NC_000022.10:g.51207494A>T, NW_004070876.1:g.4141A>G, NW_004070876.1:g.4141A>T, NM_007081.4:c.563T>C, NM_007081.4:c.563T>A, NM_007081.3:c.563T>C, NM_007081.3:c.563T>A, NM_007081.2:c.563T>C, NM_007081.2:c.563T>A, NM_001130921.3:c.566T>C, NM_001130921.3:c.566T>A, NM_001130921.2:c.566T>C, NM_001130921.2:c.566T>A, NM_001130921.1:c.566T>C, NM_001130921.1:c.566T>A, NM_001130923.3:c.593T>C, NM_001130923.3:c.593T>A, NM_001130923.2:c.593T>C, NM_001130923.2:c.593T>A, NM_001130923.1:c.593T>C, NM_001130923.1:c.593T>A, NM_001130920.3:c.566T>C, NM_001130920.3:c.566T>A, NM_001130920.2:c.566T>C, NM_001130920.2:c.566T>A, NM_001130920.1:c.566T>C, NM_001130920.1:c.566T>A, NM_001003789.3:c.566T>C, NM_001003789.3:c.566T>A, NM_001003789.2:c.566T>C, NM_001003789.2:c.566T>A, NM_001003789.1:c.566T>C, NM_001003789.1:c.566T>A, NM_001130922.3:c.563T>C, NM_001130922.3:c.563T>A, NM_001130922.2:c.563T>C, NM_001130922.2:c.563T>A, NM_001130922.1:c.563T>C, NM_001130922.1:c.563T>A, NM_001130919.3:c.566T>C, NM_001130919.3:c.566T>A, NM_001130919.2:c.566T>C, NM_001130919.2:c.566T>A, NM_001130919.1:c.566T>C, NM_001130919.1:c.566T>A, XM_017028543.2:c.596T>C, XM_017028543.2:c.596T>A, XM_017028543.1:c.596T>C, XM_017028543.1:c.596T>A, XM_017028547.2:c.593T>C, XM_017028547.2:c.593T>A, XM_017028547.1:c.593T>C, XM_017028547.1:c.593T>A, XM_017028552.2:c.566T>C, XM_017028552.2:c.566T>A, XM_017028552.1:c.566T>C, XM_017028552.1:c.566T>A, XM_017028556.2:c.563T>C, XM_017028556.2:c.563T>A, XM_017028556.1:c.563T>C, XM_017028556.1:c.563T>A, XM_017028544.2:c.596T>C, XM_017028544.2:c.596T>A, XM_017028544.1:c.596T>C, XM_017028544.1:c.596T>A, NM_001350004.2:c.566T>C, NM_001350004.2:c.566T>A, NM_001350004.1:c.566T>C, NM_001350004.1:c.566T>A, NM_001350009.2:c.596T>C, NM_001350009.2:c.596T>A, NM_001350009.1:c.596T>C, NM_001350009.1:c.596T>A, NM_001350014.2:c.593T>C, NM_001350014.2:c.593T>A, NM_001350014.1:c.593T>C, NM_001350014.1:c.593T>A, XM_017028546.2:c.596T>C, XM_017028546.2:c.596T>A, XM_017028546.1:c.596T>C, XM_017028546.1:c.596T>A, NM_001350012.2:c.596T>C, NM_001350012.2:c.596T>A, NM_001350012.1:c.596T>C, NM_001350012.1:c.596T>A, NM_001350013.2:c.593T>C, NM_001350013.2:c.593T>A, NM_001350013.1:c.593T>C, NM_001350013.1:c.593T>A, NM_001350017.2:c.584T>C, NM_001350017.2:c.584T>A, NM_001350017.1:c.584T>C, NM_001350017.1:c.584T>A, NM_001350007.2:c.563T>C, NM_001350007.2:c.563T>A, NM_001350007.1:c.563T>C, NM_001350007.1:c.563T>A, NM_001350003.2:c.566T>C, NM_001350003.2:c.566T>A, NM_001350003.1:c.566T>C, NM_001350003.1:c.566T>A, NM_001350005.2:c.563T>C, NM_001350005.2:c.563T>A, NM_001350005.1:c.563T>C, NM_001350005.1:c.563T>A, NM_001350008.2:c.596T>C, NM_001350008.2:c.596T>A, NM_001350008.1:c.596T>C, NM_001350008.1:c.596T>A, NM_001350016.2:c.584T>C, NM_001350016.2:c.584T>A, NM_001350016.1:c.584T>C, NM_001350016.1:c.584T>A, NM_001350006.2:c.563T>C, NM_001350006.2:c.563T>A, NM_001350006.1:c.563T>C, NM_001350006.1:c.563T>A, XM_017028551.2:c.581T>C, XM_017028551.2:c.581T>A, XM_017028551.1:c.581T>C, XM_017028551.1:c.581T>A, NM_001350011.2:c.596T>C, NM_001350011.2:c.596T>A, NM_001350011.1:c.596T>C, NM_001350011.1:c.596T>A, NM_001350010.2:c.596T>C, NM_001350010.2:c.596T>A, NM_001350010.1:c.596T>C, NM_001350010.1:c.596T>A, NM_001350015.2:c.593T>C, NM_001350015.2:c.593T>A, NM_001350015.1:c.593T>C, NM_001350015.1:c.593T>A, XM_047441085.1:c.596T>C, XM_047441085.1:c.596T>A, XM_047441088.1:c.593T>C, XM_047441088.1:c.593T>A, XM_047441090.1:c.584T>C, XM_047441090.1:c.584T>A, XM_047441095.1:c.566T>C, XM_047441095.1:c.566T>A, XM_047441098.1:c.563T>C, XM_047441098.1:c.563T>A, XM_047441091.1:c.584T>C, XM_047441091.1:c.584T>A, XM_047441099.1:c.563T>C, XM_047441099.1:c.563T>A, XM_047441096.1:c.566T>C, XM_047441096.1:c.566T>A, XM_047441093.1:c.584T>C, XM_047441093.1:c.584T>A, XM_047441094.1:c.581T>C, XM_047441094.1:c.581T>A, NM_001394054.1:c.566T>C, NM_001394054.1:c.566T>A, XM_047441086.1:c.596T>C, XM_047441086.1:c.596T>A, NM_001394055.1:c.566T>C, NM_001394055.1:c.566T>A, XM_047441100.1:c.563T>C, XM_047441100.1:c.563T>A, XM_047441087.1:c.596T>C, XM_047441087.1:c.596T>A, XM_047441097.1:c.566T>C, XM_047441097.1:c.566T>A, XM_047441089.1:c.593T>C, XM_047441089.1:c.593T>A, XM_047441092.1:c.584T>C, XM_047441092.1:c.584T>A, XM_047441101.1:c.563T>C, XM_047441101.1:c.563T>A, NP_009012.1:p.Met188Thr, NP_009012.1:p.Met188Lys, NP_001124393.1:p.Met189Thr, NP_001124393.1:p.Met189Lys, NP_001124395.1:p.Met198Thr, NP_001124395.1:p.Met198Lys, NP_001124392.1:p.Met189Thr, NP_001124392.1:p.Met189Lys, NP_001003789.1:p.Met189Thr, NP_001003789.1:p.Met189Lys, NP_001124394.1:p.Met188Thr, NP_001124394.1:p.Met188Lys, NP_001124391.1:p.Met189Thr, NP_001124391.1:p.Met189Lys, XP_016884032.1:p.Met199Thr, XP_016884032.1:p.Met199Lys, XP_016884036.1:p.Met198Thr, XP_016884036.1:p.Met198Lys, XP_016884041.1:p.Met189Thr, XP_016884041.1:p.Met189Lys, XP_016884045.1:p.Met188Thr, XP_016884045.1:p.Met188Lys, XP_016884033.1:p.Met199Thr, XP_016884033.1:p.Met199Lys, NP_001336933.1:p.Met189Thr, NP_001336933.1:p.Met189Lys, NP_001336938.1:p.Met199Thr, NP_001336938.1:p.Met199Lys, NP_001336943.1:p.Met198Thr, NP_001336943.1:p.Met198Lys, XP_016884035.1:p.Met199Thr, XP_016884035.1:p.Met199Lys, NP_001336941.1:p.Met199Thr, NP_001336941.1:p.Met199Lys, NP_001336942.1:p.Met198Thr, NP_001336942.1:p.Met198Lys, NP_001336946.1:p.Met195Thr, NP_001336946.1:p.Met195Lys, NP_001336936.1:p.Met188Thr, NP_001336936.1:p.Met188Lys, NP_001336932.1:p.Met189Thr, NP_001336932.1:p.Met189Lys, NP_001336934.1:p.Met188Thr, NP_001336934.1:p.Met188Lys, NP_001336937.1:p.Met199Thr, NP_001336937.1:p.Met199Lys, NP_001336945.1:p.Met195Thr, NP_001336945.1:p.Met195Lys, NP_001336935.1:p.Met188Thr, NP_001336935.1:p.Met188Lys, XP_016884040.1:p.Met194Thr, XP_016884040.1:p.Met194Lys, NP_001336940.1:p.Met199Thr, NP_001336940.1:p.Met199Lys, NP_001336939.1:p.Met199Thr, NP_001336939.1:p.Met199Lys, NP_001336944.1:p.Met198Thr, NP_001336944.1:p.Met198Lys, XP_047297041.1:p.Met199Thr, XP_047297041.1:p.Met199Lys, XP_047297044.1:p.Met198Thr, XP_047297044.1:p.Met198Lys, XP_047297046.1:p.Met195Thr, XP_047297046.1:p.Met195Lys, XP_047297051.1:p.Met189Thr, XP_047297051.1:p.Met189Lys, XP_047297054.1:p.Met188Thr, XP_047297054.1:p.Met188Lys, XP_047297047.1:p.Met195Thr, XP_047297047.1:p.Met195Lys, XP_047297055.1:p.Met188Thr, XP_047297055.1:p.Met188Lys, XP_047297052.1:p.Met189Thr, XP_047297052.1:p.Met189Lys, XP_047297049.1:p.Met195Thr, XP_047297049.1:p.Met195Lys, XP_047297050.1:p.Met194Thr, XP_047297050.1:p.Met194Lys, NP_001380983.1:p.Met189Thr, NP_001380983.1:p.Met189Lys, XP_047297042.1:p.Met199Thr, XP_047297042.1:p.Met199Lys, NP_001380984.1:p.Met189Thr, NP_001380984.1:p.Met189Lys, XP_047297056.1:p.Met188Thr, XP_047297056.1:p.Met188Lys, XP_047297043.1:p.Met199Thr, XP_047297043.1:p.Met199Lys, XP_047297053.1:p.Met189Thr, XP_047297053.1:p.Met189Lys, XP_047297045.1:p.Met198Thr, XP_047297045.1:p.Met198Lys, XP_047297048.1:p.Met195Thr, XP_047297048.1:p.Met195Lys, XP_047297057.1:p.Met188Thr, XP_047297057.1:p.Met188Lys

      3.

      rs1476710090 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        22:50769939 (GRCh38)
        22:51208367 (GRCh37)
        Canonical SPDI:
        NC_000022.11:50769938:C:A,NC_000022.11:50769938:C:G,NC_000022.11:50769938:C:T
        Gene:
        RABL2B (Varview), RPL23AP82 (Varview)
        Functional Consequence:
        intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000022.11:g.50769939C>A, NC_000022.11:g.50769939C>G, NC_000022.11:g.50769939C>T, NC_000022.10:g.51208367C>A, NC_000022.10:g.51208367C>G, NC_000022.10:g.51208367C>T, NW_004070876.1:g.5014C>A, NW_004070876.1:g.5014C>G, NW_004070876.1:g.5014C>T, NM_007081.4:c.375G>T, NM_007081.4:c.375G>C, NM_007081.4:c.375G>A, NM_007081.3:c.375G>T, NM_007081.3:c.375G>C, NM_007081.3:c.375G>A, NM_007081.2:c.375G>T, NM_007081.2:c.375G>C, NM_007081.2:c.375G>A, NM_001130921.3:c.375G>T, NM_001130921.3:c.375G>C, NM_001130921.3:c.375G>A, NM_001130921.2:c.375G>T, NM_001130921.2:c.375G>C, NM_001130921.2:c.375G>A, NM_001130921.1:c.375G>T, NM_001130921.1:c.375G>C, NM_001130921.1:c.375G>A, NM_001130923.3:c.375G>T, NM_001130923.3:c.375G>C, NM_001130923.3:c.375G>A, NM_001130923.2:c.375G>T, NM_001130923.2:c.375G>C, NM_001130923.2:c.375G>A, NM_001130923.1:c.375G>T, NM_001130923.1:c.375G>C, NM_001130923.1:c.375G>A, NM_001130920.3:c.375G>T, NM_001130920.3:c.375G>C, NM_001130920.3:c.375G>A, NM_001130920.2:c.375G>T, NM_001130920.2:c.375G>C, NM_001130920.2:c.375G>A, NM_001130920.1:c.375G>T, NM_001130920.1:c.375G>C, NM_001130920.1:c.375G>A, NM_001003789.3:c.375G>T, NM_001003789.3:c.375G>C, NM_001003789.3:c.375G>A, NM_001003789.2:c.375G>T, NM_001003789.2:c.375G>C, NM_001003789.2:c.375G>A, NM_001003789.1:c.375G>T, NM_001003789.1:c.375G>C, NM_001003789.1:c.375G>A, NM_001130922.3:c.375G>T, NM_001130922.3:c.375G>C, NM_001130922.3:c.375G>A, NM_001130922.2:c.375G>T, NM_001130922.2:c.375G>C, NM_001130922.2:c.375G>A, NM_001130922.1:c.375G>T, NM_001130922.1:c.375G>C, NM_001130922.1:c.375G>A, NM_001130919.3:c.375G>T, NM_001130919.3:c.375G>C, NM_001130919.3:c.375G>A, NM_001130919.2:c.375G>T, NM_001130919.2:c.375G>C, NM_001130919.2:c.375G>A, NM_001130919.1:c.375G>T, NM_001130919.1:c.375G>C, NM_001130919.1:c.375G>A, XM_017028543.2:c.375G>T, XM_017028543.2:c.375G>C, XM_017028543.2:c.375G>A, XM_017028543.1:c.375G>T, XM_017028543.1:c.375G>C, XM_017028543.1:c.375G>A, XM_017028547.2:c.375G>T, XM_017028547.2:c.375G>C, XM_017028547.2:c.375G>A, XM_017028547.1:c.375G>T, XM_017028547.1:c.375G>C, XM_017028547.1:c.375G>A, XM_017028552.2:c.375G>T, XM_017028552.2:c.375G>C, XM_017028552.2:c.375G>A, XM_017028552.1:c.375G>T, XM_017028552.1:c.375G>C, XM_017028552.1:c.375G>A, XM_017028556.2:c.375G>T, XM_017028556.2:c.375G>C, XM_017028556.2:c.375G>A, XM_017028556.1:c.375G>T, XM_017028556.1:c.375G>C, XM_017028556.1:c.375G>A, XM_017028544.2:c.375G>T, XM_017028544.2:c.375G>C, XM_017028544.2:c.375G>A, XM_017028544.1:c.375G>T, XM_017028544.1:c.375G>C, XM_017028544.1:c.375G>A, NM_001350004.2:c.375G>T, NM_001350004.2:c.375G>C, NM_001350004.2:c.375G>A, NM_001350004.1:c.375G>T, NM_001350004.1:c.375G>C, NM_001350004.1:c.375G>A, NM_001350009.2:c.375G>T, NM_001350009.2:c.375G>C, NM_001350009.2:c.375G>A, NM_001350009.1:c.375G>T, NM_001350009.1:c.375G>C, NM_001350009.1:c.375G>A, NM_001350014.2:c.375G>T, NM_001350014.2:c.375G>C, NM_001350014.2:c.375G>A, NM_001350014.1:c.375G>T, NM_001350014.1:c.375G>C, NM_001350014.1:c.375G>A, XM_017028546.2:c.375G>T, XM_017028546.2:c.375G>C, XM_017028546.2:c.375G>A, XM_017028546.1:c.375G>T, XM_017028546.1:c.375G>C, XM_017028546.1:c.375G>A, NM_001350012.2:c.375G>T, NM_001350012.2:c.375G>C, NM_001350012.2:c.375G>A, NM_001350012.1:c.375G>T, NM_001350012.1:c.375G>C, NM_001350012.1:c.375G>A, NM_001350013.2:c.375G>T, NM_001350013.2:c.375G>C, NM_001350013.2:c.375G>A, NM_001350013.1:c.375G>T, NM_001350013.1:c.375G>C, NM_001350013.1:c.375G>A, NM_001350017.2:c.375G>T, NM_001350017.2:c.375G>C, NM_001350017.2:c.375G>A, NM_001350017.1:c.375G>T, NM_001350017.1:c.375G>C, NM_001350017.1:c.375G>A, NM_001350007.2:c.375G>T, NM_001350007.2:c.375G>C, NM_001350007.2:c.375G>A, NM_001350007.1:c.375G>T, NM_001350007.1:c.375G>C, NM_001350007.1:c.375G>A, NM_001350003.2:c.375G>T, NM_001350003.2:c.375G>C, NM_001350003.2:c.375G>A, NM_001350003.1:c.375G>T, NM_001350003.1:c.375G>C, NM_001350003.1:c.375G>A, NM_001350005.2:c.375G>T, NM_001350005.2:c.375G>C, NM_001350005.2:c.375G>A, NM_001350005.1:c.375G>T, NM_001350005.1:c.375G>C, NM_001350005.1:c.375G>A, NM_001350008.2:c.375G>T, NM_001350008.2:c.375G>C, NM_001350008.2:c.375G>A, NM_001350008.1:c.375G>T, NM_001350008.1:c.375G>C, NM_001350008.1:c.375G>A, NM_001350016.2:c.375G>T, NM_001350016.2:c.375G>C, NM_001350016.2:c.375G>A, NM_001350016.1:c.375G>T, NM_001350016.1:c.375G>C, NM_001350016.1:c.375G>A, NM_001350006.2:c.375G>T, NM_001350006.2:c.375G>C, NM_001350006.2:c.375G>A, NM_001350006.1:c.375G>T, NM_001350006.1:c.375G>C, NM_001350006.1:c.375G>A, XM_017028551.2:c.375G>T, XM_017028551.2:c.375G>C, XM_017028551.2:c.375G>A, XM_017028551.1:c.375G>T, XM_017028551.1:c.375G>C, XM_017028551.1:c.375G>A, NM_001350011.2:c.375G>T, NM_001350011.2:c.375G>C, NM_001350011.2:c.375G>A, NM_001350011.1:c.375G>T, NM_001350011.1:c.375G>C, NM_001350011.1:c.375G>A, NM_001350010.2:c.375G>T, NM_001350010.2:c.375G>C, NM_001350010.2:c.375G>A, NM_001350010.1:c.375G>T, NM_001350010.1:c.375G>C, NM_001350010.1:c.375G>A, NM_001350015.2:c.375G>T, NM_001350015.2:c.375G>C, NM_001350015.2:c.375G>A, NM_001350015.1:c.375G>T, NM_001350015.1:c.375G>C, NM_001350015.1:c.375G>A, XM_047441085.1:c.375G>T, XM_047441085.1:c.375G>C, XM_047441085.1:c.375G>A, XM_047441088.1:c.375G>T, XM_047441088.1:c.375G>C, XM_047441088.1:c.375G>A, XM_047441090.1:c.375G>T, XM_047441090.1:c.375G>C, XM_047441090.1:c.375G>A, XM_047441095.1:c.375G>T, XM_047441095.1:c.375G>C, XM_047441095.1:c.375G>A, XM_047441098.1:c.375G>T, XM_047441098.1:c.375G>C, XM_047441098.1:c.375G>A, XM_047441091.1:c.375G>T, XM_047441091.1:c.375G>C, XM_047441091.1:c.375G>A, XM_047441099.1:c.375G>T, XM_047441099.1:c.375G>C, XM_047441099.1:c.375G>A, XM_047441096.1:c.375G>T, XM_047441096.1:c.375G>C, XM_047441096.1:c.375G>A, XM_047441093.1:c.375G>T, XM_047441093.1:c.375G>C, XM_047441093.1:c.375G>A, XM_047441094.1:c.375G>T, XM_047441094.1:c.375G>C, XM_047441094.1:c.375G>A, NM_001394054.1:c.375G>T, NM_001394054.1:c.375G>C, NM_001394054.1:c.375G>A, XM_047441086.1:c.375G>T, XM_047441086.1:c.375G>C, XM_047441086.1:c.375G>A, NM_001394055.1:c.375G>T, NM_001394055.1:c.375G>C, NM_001394055.1:c.375G>A, XM_047441100.1:c.375G>T, XM_047441100.1:c.375G>C, XM_047441100.1:c.375G>A, XM_047441087.1:c.375G>T, XM_047441087.1:c.375G>C, XM_047441087.1:c.375G>A, XM_047441097.1:c.375G>T, XM_047441097.1:c.375G>C, XM_047441097.1:c.375G>A, XM_047441089.1:c.375G>T, XM_047441089.1:c.375G>C, XM_047441089.1:c.375G>A, XM_047441092.1:c.375G>T, XM_047441092.1:c.375G>C, XM_047441092.1:c.375G>A, XM_047441101.1:c.375G>T, XM_047441101.1:c.375G>C, XM_047441101.1:c.375G>A, XM_047441103.1:c.375G>T, XM_047441103.1:c.375G>C, XM_047441103.1:c.375G>A, XM_047441102.1:c.375G>T, XM_047441102.1:c.375G>C, XM_047441102.1:c.375G>A, NP_009012.1:p.Glu125Asp, NP_009012.1:p.Glu125Asp, NP_001124393.1:p.Glu125Asp, NP_001124393.1:p.Glu125Asp, NP_001124395.1:p.Glu125Asp, NP_001124395.1:p.Glu125Asp, NP_001124392.1:p.Glu125Asp, NP_001124392.1:p.Glu125Asp, NP_001003789.1:p.Glu125Asp, NP_001003789.1:p.Glu125Asp, NP_001124394.1:p.Glu125Asp, NP_001124394.1:p.Glu125Asp, NP_001124391.1:p.Glu125Asp, NP_001124391.1:p.Glu125Asp, XP_016884032.1:p.Glu125Asp, XP_016884032.1:p.Glu125Asp, XP_016884036.1:p.Glu125Asp, XP_016884036.1:p.Glu125Asp, XP_016884041.1:p.Glu125Asp, XP_016884041.1:p.Glu125Asp, XP_016884045.1:p.Glu125Asp, XP_016884045.1:p.Glu125Asp, XP_016884033.1:p.Glu125Asp, XP_016884033.1:p.Glu125Asp, NP_001336933.1:p.Glu125Asp, NP_001336933.1:p.Glu125Asp, NP_001336938.1:p.Glu125Asp, NP_001336938.1:p.Glu125Asp, NP_001336943.1:p.Glu125Asp, NP_001336943.1:p.Glu125Asp, XP_016884035.1:p.Glu125Asp, XP_016884035.1:p.Glu125Asp, NP_001336941.1:p.Glu125Asp, NP_001336941.1:p.Glu125Asp, NP_001336942.1:p.Glu125Asp, NP_001336942.1:p.Glu125Asp, NP_001336946.1:p.Glu125Asp, NP_001336946.1:p.Glu125Asp, NP_001336936.1:p.Glu125Asp, NP_001336936.1:p.Glu125Asp, NP_001336932.1:p.Glu125Asp, NP_001336932.1:p.Glu125Asp, NP_001336934.1:p.Glu125Asp, NP_001336934.1:p.Glu125Asp, NP_001336937.1:p.Glu125Asp, NP_001336937.1:p.Glu125Asp, NP_001336945.1:p.Glu125Asp, NP_001336945.1:p.Glu125Asp, NP_001336935.1:p.Glu125Asp, NP_001336935.1:p.Glu125Asp, XP_016884040.1:p.Glu125Asp, XP_016884040.1:p.Glu125Asp, NP_001336940.1:p.Glu125Asp, NP_001336940.1:p.Glu125Asp, NP_001336939.1:p.Glu125Asp, NP_001336939.1:p.Glu125Asp, NP_001336944.1:p.Glu125Asp, NP_001336944.1:p.Glu125Asp, XP_047297041.1:p.Glu125Asp, XP_047297041.1:p.Glu125Asp, XP_047297044.1:p.Glu125Asp, XP_047297044.1:p.Glu125Asp, XP_047297046.1:p.Glu125Asp, XP_047297046.1:p.Glu125Asp, XP_047297051.1:p.Glu125Asp, XP_047297051.1:p.Glu125Asp, XP_047297054.1:p.Glu125Asp, XP_047297054.1:p.Glu125Asp, XP_047297047.1:p.Glu125Asp, XP_047297047.1:p.Glu125Asp, XP_047297055.1:p.Glu125Asp, XP_047297055.1:p.Glu125Asp, XP_047297052.1:p.Glu125Asp, XP_047297052.1:p.Glu125Asp, XP_047297049.1:p.Glu125Asp, XP_047297049.1:p.Glu125Asp, XP_047297050.1:p.Glu125Asp, XP_047297050.1:p.Glu125Asp, NP_001380983.1:p.Glu125Asp, NP_001380983.1:p.Glu125Asp, XP_047297042.1:p.Glu125Asp, XP_047297042.1:p.Glu125Asp, NP_001380984.1:p.Glu125Asp, NP_001380984.1:p.Glu125Asp, XP_047297056.1:p.Glu125Asp, XP_047297056.1:p.Glu125Asp, XP_047297043.1:p.Glu125Asp, XP_047297043.1:p.Glu125Asp, XP_047297053.1:p.Glu125Asp, XP_047297053.1:p.Glu125Asp, XP_047297045.1:p.Glu125Asp, XP_047297045.1:p.Glu125Asp, XP_047297048.1:p.Glu125Asp, XP_047297048.1:p.Glu125Asp, XP_047297057.1:p.Glu125Asp, XP_047297057.1:p.Glu125Asp, XP_047297059.1:p.Glu125Asp, XP_047297059.1:p.Glu125Asp, XP_047297058.1:p.Glu125Asp, XP_047297058.1:p.Glu125Asp

        4.

        rs1476660500 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:50769076 (GRCh38)
          22:51207504 (GRCh37)
          Canonical SPDI:
          NC_000022.11:50769075:G:A
          Gene:
          RABL2B (Varview), RPL23AP82 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.000142/2 (ALFA)
          A=0.000057/7 (GnomAD)
          HGVS:
          NC_000022.11:g.50769076G>A, NC_000022.10:g.51207504G>A, NW_004070876.1:g.4151G>A, NM_007081.4:c.553C>T, NM_007081.3:c.553C>T, NM_007081.2:c.553C>T, NM_001130921.3:c.556C>T, NM_001130921.2:c.556C>T, NM_001130921.1:c.556C>T, NM_001130923.3:c.583C>T, NM_001130923.2:c.583C>T, NM_001130923.1:c.583C>T, NM_001130920.3:c.556C>T, NM_001130920.2:c.556C>T, NM_001130920.1:c.556C>T, NM_001003789.3:c.556C>T, NM_001003789.2:c.556C>T, NM_001003789.1:c.556C>T, NM_001130922.3:c.553C>T, NM_001130922.2:c.553C>T, NM_001130922.1:c.553C>T, NM_001130919.3:c.556C>T, NM_001130919.2:c.556C>T, NM_001130919.1:c.556C>T, XM_017028543.2:c.586C>T, XM_017028543.1:c.586C>T, XM_017028547.2:c.583C>T, XM_017028547.1:c.583C>T, XM_017028552.2:c.556C>T, XM_017028552.1:c.556C>T, XM_017028556.2:c.553C>T, XM_017028556.1:c.553C>T, XM_017028544.2:c.586C>T, XM_017028544.1:c.586C>T, NM_001350004.2:c.556C>T, NM_001350004.1:c.556C>T, NM_001350009.2:c.586C>T, NM_001350009.1:c.586C>T, NM_001350014.2:c.583C>T, NM_001350014.1:c.583C>T, XM_017028546.2:c.586C>T, XM_017028546.1:c.586C>T, NM_001350012.2:c.586C>T, NM_001350012.1:c.586C>T, NM_001350013.2:c.583C>T, NM_001350013.1:c.583C>T, NM_001350017.2:c.574C>T, NM_001350017.1:c.574C>T, NM_001350007.2:c.553C>T, NM_001350007.1:c.553C>T, NM_001350003.2:c.556C>T, NM_001350003.1:c.556C>T, NM_001350005.2:c.553C>T, NM_001350005.1:c.553C>T, NM_001350008.2:c.586C>T, NM_001350008.1:c.586C>T, NM_001350016.2:c.574C>T, NM_001350016.1:c.574C>T, NM_001350006.2:c.553C>T, NM_001350006.1:c.553C>T, XM_017028551.2:c.571C>T, XM_017028551.1:c.571C>T, NM_001350011.2:c.586C>T, NM_001350011.1:c.586C>T, NM_001350010.2:c.586C>T, NM_001350010.1:c.586C>T, NM_001350015.2:c.583C>T, NM_001350015.1:c.583C>T, XM_047441085.1:c.586C>T, XM_047441088.1:c.583C>T, XM_047441090.1:c.574C>T, XM_047441095.1:c.556C>T, XM_047441098.1:c.553C>T, XM_047441091.1:c.574C>T, XM_047441099.1:c.553C>T, XM_047441096.1:c.556C>T, XM_047441093.1:c.574C>T, XM_047441094.1:c.571C>T, NM_001394054.1:c.556C>T, XM_047441086.1:c.586C>T, NM_001394055.1:c.556C>T, XM_047441100.1:c.553C>T, XM_047441087.1:c.586C>T, XM_047441097.1:c.556C>T, XM_047441089.1:c.583C>T, XM_047441092.1:c.574C>T, XM_047441101.1:c.553C>T, NP_009012.1:p.Gln185Ter, NP_001124393.1:p.Gln186Ter, NP_001124395.1:p.Gln195Ter, NP_001124392.1:p.Gln186Ter, NP_001003789.1:p.Gln186Ter, NP_001124394.1:p.Gln185Ter, NP_001124391.1:p.Gln186Ter, XP_016884032.1:p.Gln196Ter, XP_016884036.1:p.Gln195Ter, XP_016884041.1:p.Gln186Ter, XP_016884045.1:p.Gln185Ter, XP_016884033.1:p.Gln196Ter, NP_001336933.1:p.Gln186Ter, NP_001336938.1:p.Gln196Ter, NP_001336943.1:p.Gln195Ter, XP_016884035.1:p.Gln196Ter, NP_001336941.1:p.Gln196Ter, NP_001336942.1:p.Gln195Ter, NP_001336946.1:p.Gln192Ter, NP_001336936.1:p.Gln185Ter, NP_001336932.1:p.Gln186Ter, NP_001336934.1:p.Gln185Ter, NP_001336937.1:p.Gln196Ter, NP_001336945.1:p.Gln192Ter, NP_001336935.1:p.Gln185Ter, XP_016884040.1:p.Gln191Ter, NP_001336940.1:p.Gln196Ter, NP_001336939.1:p.Gln196Ter, NP_001336944.1:p.Gln195Ter, XP_047297041.1:p.Gln196Ter, XP_047297044.1:p.Gln195Ter, XP_047297046.1:p.Gln192Ter, XP_047297051.1:p.Gln186Ter, XP_047297054.1:p.Gln185Ter, XP_047297047.1:p.Gln192Ter, XP_047297055.1:p.Gln185Ter, XP_047297052.1:p.Gln186Ter, XP_047297049.1:p.Gln192Ter, XP_047297050.1:p.Gln191Ter, NP_001380983.1:p.Gln186Ter, XP_047297042.1:p.Gln196Ter, NP_001380984.1:p.Gln186Ter, XP_047297056.1:p.Gln185Ter, XP_047297043.1:p.Gln196Ter, XP_047297053.1:p.Gln186Ter, XP_047297045.1:p.Gln195Ter, XP_047297048.1:p.Gln192Ter, XP_047297057.1:p.Gln185Ter

          5.

          rs1468068181 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            22:50769050 (GRCh38)
            22:51207478 (GRCh37)
            Canonical SPDI:
            NC_000022.11:50769049:C:G
            Gene:
            RABL2B (Varview), RPL23AP82 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000016/2 (GnomAD)
            HGVS:
            NC_000022.11:g.50769050C>G, NC_000022.10:g.51207478C>G, NW_004070876.1:g.4125C>G, NM_007081.4:c.579G>C, NM_007081.3:c.579G>C, NM_007081.2:c.579G>C, NM_001130921.3:c.582G>C, NM_001130921.2:c.582G>C, NM_001130921.1:c.582G>C, NM_001130923.3:c.609G>C, NM_001130923.2:c.609G>C, NM_001130923.1:c.609G>C, NM_001130920.3:c.582G>C, NM_001130920.2:c.582G>C, NM_001130920.1:c.582G>C, NM_001003789.3:c.582G>C, NM_001003789.2:c.582G>C, NM_001003789.1:c.582G>C, NM_001130922.3:c.579G>C, NM_001130922.2:c.579G>C, NM_001130922.1:c.579G>C, NM_001130919.3:c.582G>C, NM_001130919.2:c.582G>C, NM_001130919.1:c.582G>C, XM_017028543.2:c.612G>C, XM_017028543.1:c.612G>C, XM_017028547.2:c.609G>C, XM_017028547.1:c.609G>C, XM_017028552.2:c.582G>C, XM_017028552.1:c.582G>C, XM_017028556.2:c.579G>C, XM_017028556.1:c.579G>C, XM_017028544.2:c.612G>C, XM_017028544.1:c.612G>C, NM_001350004.2:c.582G>C, NM_001350004.1:c.582G>C, NM_001350009.2:c.612G>C, NM_001350009.1:c.612G>C, NM_001350014.2:c.609G>C, NM_001350014.1:c.609G>C, XM_017028546.2:c.612G>C, XM_017028546.1:c.612G>C, NM_001350012.2:c.612G>C, NM_001350012.1:c.612G>C, NM_001350013.2:c.609G>C, NM_001350013.1:c.609G>C, NM_001350017.2:c.600G>C, NM_001350017.1:c.600G>C, NM_001350007.2:c.579G>C, NM_001350007.1:c.579G>C, NM_001350003.2:c.582G>C, NM_001350003.1:c.582G>C, NM_001350005.2:c.579G>C, NM_001350005.1:c.579G>C, NM_001350008.2:c.612G>C, NM_001350008.1:c.612G>C, NM_001350016.2:c.600G>C, NM_001350016.1:c.600G>C, NM_001350006.2:c.579G>C, NM_001350006.1:c.579G>C, XM_017028551.2:c.597G>C, XM_017028551.1:c.597G>C, NM_001350011.2:c.612G>C, NM_001350011.1:c.612G>C, NM_001350010.2:c.612G>C, NM_001350010.1:c.612G>C, NM_001350015.2:c.609G>C, NM_001350015.1:c.609G>C, XM_047441085.1:c.612G>C, XM_047441088.1:c.609G>C, XM_047441090.1:c.600G>C, XM_047441095.1:c.582G>C, XM_047441098.1:c.579G>C, XM_047441091.1:c.600G>C, XM_047441099.1:c.579G>C, XM_047441096.1:c.582G>C, XM_047441093.1:c.600G>C, XM_047441094.1:c.597G>C, NM_001394054.1:c.582G>C, XM_047441086.1:c.612G>C, NM_001394055.1:c.582G>C, XM_047441100.1:c.579G>C, XM_047441087.1:c.612G>C, XM_047441097.1:c.582G>C, XM_047441089.1:c.609G>C, XM_047441092.1:c.600G>C, XM_047441101.1:c.579G>C, NP_009012.1:p.Gln193His, NP_001124393.1:p.Gln194His, NP_001124395.1:p.Gln203His, NP_001124392.1:p.Gln194His, NP_001003789.1:p.Gln194His, NP_001124394.1:p.Gln193His, NP_001124391.1:p.Gln194His, XP_016884032.1:p.Gln204His, XP_016884036.1:p.Gln203His, XP_016884041.1:p.Gln194His, XP_016884045.1:p.Gln193His, XP_016884033.1:p.Gln204His, NP_001336933.1:p.Gln194His, NP_001336938.1:p.Gln204His, NP_001336943.1:p.Gln203His, XP_016884035.1:p.Gln204His, NP_001336941.1:p.Gln204His, NP_001336942.1:p.Gln203His, NP_001336946.1:p.Gln200His, NP_001336936.1:p.Gln193His, NP_001336932.1:p.Gln194His, NP_001336934.1:p.Gln193His, NP_001336937.1:p.Gln204His, NP_001336945.1:p.Gln200His, NP_001336935.1:p.Gln193His, XP_016884040.1:p.Gln199His, NP_001336940.1:p.Gln204His, NP_001336939.1:p.Gln204His, NP_001336944.1:p.Gln203His, XP_047297041.1:p.Gln204His, XP_047297044.1:p.Gln203His, XP_047297046.1:p.Gln200His, XP_047297051.1:p.Gln194His, XP_047297054.1:p.Gln193His, XP_047297047.1:p.Gln200His, XP_047297055.1:p.Gln193His, XP_047297052.1:p.Gln194His, XP_047297049.1:p.Gln200His, XP_047297050.1:p.Gln199His, NP_001380983.1:p.Gln194His, XP_047297042.1:p.Gln204His, NP_001380984.1:p.Gln194His, XP_047297056.1:p.Gln193His, XP_047297043.1:p.Gln204His, XP_047297053.1:p.Gln194His, XP_047297045.1:p.Gln203His, XP_047297048.1:p.Gln200His, XP_047297057.1:p.Gln193His

            6.

            rs1460274101 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              22:50769082 (GRCh38)
              22:51207510 (GRCh37)
              Canonical SPDI:
              NC_000022.11:50769081:T:G
              Gene:
              RABL2B (Varview), RPL23AP82 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (TOPMED)
              HGVS:
              NC_000022.11:g.50769082T>G, NC_000022.10:g.51207510T>G, NW_004070876.1:g.4157T>G, NM_007081.4:c.547A>C, NM_007081.3:c.547A>C, NM_007081.2:c.547A>C, NM_001130921.3:c.550A>C, NM_001130921.2:c.550A>C, NM_001130921.1:c.550A>C, NM_001130923.3:c.577A>C, NM_001130923.2:c.577A>C, NM_001130923.1:c.577A>C, NM_001130920.3:c.550A>C, NM_001130920.2:c.550A>C, NM_001130920.1:c.550A>C, NM_001003789.3:c.550A>C, NM_001003789.2:c.550A>C, NM_001003789.1:c.550A>C, NM_001130922.3:c.547A>C, NM_001130922.2:c.547A>C, NM_001130922.1:c.547A>C, NM_001130919.3:c.550A>C, NM_001130919.2:c.550A>C, NM_001130919.1:c.550A>C, XM_017028543.2:c.580A>C, XM_017028543.1:c.580A>C, XM_017028547.2:c.577A>C, XM_017028547.1:c.577A>C, XM_017028552.2:c.550A>C, XM_017028552.1:c.550A>C, XM_017028556.2:c.547A>C, XM_017028556.1:c.547A>C, XM_017028544.2:c.580A>C, XM_017028544.1:c.580A>C, NM_001350004.2:c.550A>C, NM_001350004.1:c.550A>C, NM_001350009.2:c.580A>C, NM_001350009.1:c.580A>C, NM_001350014.2:c.577A>C, NM_001350014.1:c.577A>C, XM_017028546.2:c.580A>C, XM_017028546.1:c.580A>C, NM_001350012.2:c.580A>C, NM_001350012.1:c.580A>C, NM_001350013.2:c.577A>C, NM_001350013.1:c.577A>C, NM_001350017.2:c.568A>C, NM_001350017.1:c.568A>C, NM_001350007.2:c.547A>C, NM_001350007.1:c.547A>C, NM_001350003.2:c.550A>C, NM_001350003.1:c.550A>C, NM_001350005.2:c.547A>C, NM_001350005.1:c.547A>C, NM_001350008.2:c.580A>C, NM_001350008.1:c.580A>C, NM_001350016.2:c.568A>C, NM_001350016.1:c.568A>C, NM_001350006.2:c.547A>C, NM_001350006.1:c.547A>C, XM_017028551.2:c.565A>C, XM_017028551.1:c.565A>C, NM_001350011.2:c.580A>C, NM_001350011.1:c.580A>C, NM_001350010.2:c.580A>C, NM_001350010.1:c.580A>C, NM_001350015.2:c.577A>C, NM_001350015.1:c.577A>C, XM_047441085.1:c.580A>C, XM_047441088.1:c.577A>C, XM_047441090.1:c.568A>C, XM_047441095.1:c.550A>C, XM_047441098.1:c.547A>C, XM_047441091.1:c.568A>C, XM_047441099.1:c.547A>C, XM_047441096.1:c.550A>C, XM_047441093.1:c.568A>C, XM_047441094.1:c.565A>C, NM_001394054.1:c.550A>C, XM_047441086.1:c.580A>C, NM_001394055.1:c.550A>C, XM_047441100.1:c.547A>C, XM_047441087.1:c.580A>C, XM_047441097.1:c.550A>C, XM_047441089.1:c.577A>C, XM_047441092.1:c.568A>C, XM_047441101.1:c.547A>C, NP_009012.1:p.Asn183His, NP_001124393.1:p.Asn184His, NP_001124395.1:p.Asn193His, NP_001124392.1:p.Asn184His, NP_001003789.1:p.Asn184His, NP_001124394.1:p.Asn183His, NP_001124391.1:p.Asn184His, XP_016884032.1:p.Asn194His, XP_016884036.1:p.Asn193His, XP_016884041.1:p.Asn184His, XP_016884045.1:p.Asn183His, XP_016884033.1:p.Asn194His, NP_001336933.1:p.Asn184His, NP_001336938.1:p.Asn194His, NP_001336943.1:p.Asn193His, XP_016884035.1:p.Asn194His, NP_001336941.1:p.Asn194His, NP_001336942.1:p.Asn193His, NP_001336946.1:p.Asn190His, NP_001336936.1:p.Asn183His, NP_001336932.1:p.Asn184His, NP_001336934.1:p.Asn183His, NP_001336937.1:p.Asn194His, NP_001336945.1:p.Asn190His, NP_001336935.1:p.Asn183His, XP_016884040.1:p.Asn189His, NP_001336940.1:p.Asn194His, NP_001336939.1:p.Asn194His, NP_001336944.1:p.Asn193His, XP_047297041.1:p.Asn194His, XP_047297044.1:p.Asn193His, XP_047297046.1:p.Asn190His, XP_047297051.1:p.Asn184His, XP_047297054.1:p.Asn183His, XP_047297047.1:p.Asn190His, XP_047297055.1:p.Asn183His, XP_047297052.1:p.Asn184His, XP_047297049.1:p.Asn190His, XP_047297050.1:p.Asn189His, NP_001380983.1:p.Asn184His, XP_047297042.1:p.Asn194His, NP_001380984.1:p.Asn184His, XP_047297056.1:p.Asn183His, XP_047297043.1:p.Asn194His, XP_047297053.1:p.Asn184His, XP_047297045.1:p.Asn193His, XP_047297048.1:p.Asn190His, XP_047297057.1:p.Asn183His

              7.

              rs1460108908 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                G>- [Show Flanks]
                Chromosome:
                22:50769948 (GRCh38)
                22:51208376 (GRCh37)
                Canonical SPDI:
                NC_000022.11:50769947:G:
                Gene:
                RABL2B (Varview), RPL23AP82 (Varview)
                Functional Consequence:
                intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:
                NC_000022.11:g.50769948del, NC_000022.10:g.51208376del, NW_004070876.1:g.5023del, NM_007081.4:c.366del, NM_007081.3:c.366del, NM_007081.2:c.366del, NM_001130921.3:c.366del, NM_001130921.2:c.366del, NM_001130921.1:c.366del, NM_001130923.3:c.366del, NM_001130923.2:c.366del, NM_001130923.1:c.366del, NM_001130920.3:c.366del, NM_001130920.2:c.366del, NM_001130920.1:c.366del, NM_001003789.3:c.366del, NM_001003789.2:c.366del, NM_001003789.1:c.366del, NM_001130922.3:c.366del, NM_001130922.2:c.366del, NM_001130922.1:c.366del, NM_001130919.3:c.366del, NM_001130919.2:c.366del, NM_001130919.1:c.366del, XM_017028543.2:c.366del, XM_017028543.1:c.366del, XM_017028547.2:c.366del, XM_017028547.1:c.366del, XM_017028552.2:c.366del, XM_017028552.1:c.366del, XM_017028556.2:c.366del, XM_017028556.1:c.366del, XM_017028544.2:c.366del, XM_017028544.1:c.366del, NM_001350004.2:c.366del, NM_001350004.1:c.366del, NM_001350009.2:c.366del, NM_001350009.1:c.366del, NM_001350014.2:c.366del, NM_001350014.1:c.366del, XM_017028546.2:c.366del, XM_017028546.1:c.366del, NM_001350012.2:c.366del, NM_001350012.1:c.366del, NM_001350013.2:c.366del, NM_001350013.1:c.366del, NM_001350017.2:c.366del, NM_001350017.1:c.366del, NM_001350007.2:c.366del, NM_001350007.1:c.366del, NM_001350003.2:c.366del, NM_001350003.1:c.366del, NM_001350005.2:c.366del, NM_001350005.1:c.366del, NM_001350008.2:c.366del, NM_001350008.1:c.366del, NM_001350016.2:c.366del, NM_001350016.1:c.366del, NM_001350006.2:c.366del, NM_001350006.1:c.366del, XM_017028551.2:c.366del, XM_017028551.1:c.366del, NM_001350011.2:c.366del, NM_001350011.1:c.366del, NM_001350010.2:c.366del, NM_001350010.1:c.366del, NM_001350015.2:c.366del, NM_001350015.1:c.366del, XM_047441085.1:c.366del, XM_047441088.1:c.366del, XM_047441090.1:c.366del, XM_047441095.1:c.366del, XM_047441098.1:c.366del, XM_047441091.1:c.366del, XM_047441099.1:c.366del, XM_047441096.1:c.366del, XM_047441093.1:c.366del, XM_047441094.1:c.366del, NM_001394054.1:c.366del, XM_047441086.1:c.366del, NM_001394055.1:c.366del, XM_047441100.1:c.366del, XM_047441087.1:c.366del, XM_047441097.1:c.366del, XM_047441089.1:c.366del, XM_047441092.1:c.366del, XM_047441101.1:c.366del, XM_047441103.1:c.366del, XM_047441102.1:c.366del, NP_009012.1:p.Phe122fs, NP_001124393.1:p.Phe122fs, NP_001124395.1:p.Phe122fs, NP_001124392.1:p.Phe122fs, NP_001003789.1:p.Phe122fs, NP_001124394.1:p.Phe122fs, NP_001124391.1:p.Phe122fs, XP_016884032.1:p.Phe122fs, XP_016884036.1:p.Phe122fs, XP_016884041.1:p.Phe122fs, XP_016884045.1:p.Phe122fs, XP_016884033.1:p.Phe122fs, NP_001336933.1:p.Phe122fs, NP_001336938.1:p.Phe122fs, NP_001336943.1:p.Phe122fs, XP_016884035.1:p.Phe122fs, NP_001336941.1:p.Phe122fs, NP_001336942.1:p.Phe122fs, NP_001336946.1:p.Phe122fs, NP_001336936.1:p.Phe122fs, NP_001336932.1:p.Phe122fs, NP_001336934.1:p.Phe122fs, NP_001336937.1:p.Phe122fs, NP_001336945.1:p.Phe122fs, NP_001336935.1:p.Phe122fs, XP_016884040.1:p.Phe122fs, NP_001336940.1:p.Phe122fs, NP_001336939.1:p.Phe122fs, NP_001336944.1:p.Phe122fs, XP_047297041.1:p.Phe122fs, XP_047297044.1:p.Phe122fs, XP_047297046.1:p.Phe122fs, XP_047297051.1:p.Phe122fs, XP_047297054.1:p.Phe122fs, XP_047297047.1:p.Phe122fs, XP_047297055.1:p.Phe122fs, XP_047297052.1:p.Phe122fs, XP_047297049.1:p.Phe122fs, XP_047297050.1:p.Phe122fs, NP_001380983.1:p.Phe122fs, XP_047297042.1:p.Phe122fs, NP_001380984.1:p.Phe122fs, XP_047297056.1:p.Phe122fs, XP_047297043.1:p.Phe122fs, XP_047297053.1:p.Phe122fs, XP_047297045.1:p.Phe122fs, XP_047297048.1:p.Phe122fs, XP_047297057.1:p.Phe122fs, XP_047297059.1:p.Phe122fs, XP_047297058.1:p.Phe122fs

                8.

                rs1450219151 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  22:50769995 (GRCh38)
                  22:51208423 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:50769994:C:T
                  Gene:
                  RABL2B (Varview), RPL23AP82 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000022.11:g.50769995C>T, NC_000022.10:g.51208423C>T, NW_004070876.1:g.5070C>T, NM_007081.4:c.319G>A, NM_007081.3:c.319G>A, NM_007081.2:c.319G>A, NM_001130921.3:c.319G>A, NM_001130921.2:c.319G>A, NM_001130921.1:c.319G>A, NM_001130923.3:c.319G>A, NM_001130923.2:c.319G>A, NM_001130923.1:c.319G>A, NM_001130920.3:c.319G>A, NM_001130920.2:c.319G>A, NM_001130920.1:c.319G>A, NM_001003789.3:c.319G>A, NM_001003789.2:c.319G>A, NM_001003789.1:c.319G>A, NM_001130922.3:c.319G>A, NM_001130922.2:c.319G>A, NM_001130922.1:c.319G>A, NM_001130919.3:c.319G>A, NM_001130919.2:c.319G>A, NM_001130919.1:c.319G>A, XM_017028543.2:c.319G>A, XM_017028543.1:c.319G>A, XM_017028547.2:c.319G>A, XM_017028547.1:c.319G>A, XM_017028552.2:c.319G>A, XM_017028552.1:c.319G>A, XM_017028556.2:c.319G>A, XM_017028556.1:c.319G>A, XM_017028544.2:c.319G>A, XM_017028544.1:c.319G>A, NM_001350004.2:c.319G>A, NM_001350004.1:c.319G>A, NM_001350009.2:c.319G>A, NM_001350009.1:c.319G>A, NM_001350014.2:c.319G>A, NM_001350014.1:c.319G>A, XM_017028546.2:c.319G>A, XM_017028546.1:c.319G>A, NM_001350012.2:c.319G>A, NM_001350012.1:c.319G>A, NM_001350013.2:c.319G>A, NM_001350013.1:c.319G>A, NM_001350017.2:c.319G>A, NM_001350017.1:c.319G>A, NM_001350007.2:c.319G>A, NM_001350007.1:c.319G>A, NM_001350003.2:c.319G>A, NM_001350003.1:c.319G>A, NM_001350005.2:c.319G>A, NM_001350005.1:c.319G>A, NM_001350008.2:c.319G>A, NM_001350008.1:c.319G>A, NM_001350016.2:c.319G>A, NM_001350016.1:c.319G>A, NM_001350006.2:c.319G>A, NM_001350006.1:c.319G>A, XM_017028551.2:c.319G>A, XM_017028551.1:c.319G>A, NM_001350011.2:c.319G>A, NM_001350011.1:c.319G>A, NM_001350010.2:c.319G>A, NM_001350010.1:c.319G>A, NM_001350015.2:c.319G>A, NM_001350015.1:c.319G>A, XM_047441085.1:c.319G>A, XM_047441088.1:c.319G>A, XM_047441090.1:c.319G>A, XM_047441095.1:c.319G>A, XM_047441098.1:c.319G>A, XM_047441091.1:c.319G>A, XM_047441099.1:c.319G>A, XM_047441096.1:c.319G>A, XM_047441093.1:c.319G>A, XM_047441094.1:c.319G>A, NM_001394054.1:c.319G>A, XM_047441086.1:c.319G>A, NM_001394055.1:c.319G>A, XM_047441100.1:c.319G>A, XM_047441087.1:c.319G>A, XM_047441097.1:c.319G>A, XM_047441089.1:c.319G>A, XM_047441092.1:c.319G>A, XM_047441101.1:c.319G>A, XM_047441103.1:c.319G>A, XM_047441102.1:c.319G>A, NP_009012.1:p.Val107Ile, NP_001124393.1:p.Val107Ile, NP_001124395.1:p.Val107Ile, NP_001124392.1:p.Val107Ile, NP_001003789.1:p.Val107Ile, NP_001124394.1:p.Val107Ile, NP_001124391.1:p.Val107Ile, XP_016884032.1:p.Val107Ile, XP_016884036.1:p.Val107Ile, XP_016884041.1:p.Val107Ile, XP_016884045.1:p.Val107Ile, XP_016884033.1:p.Val107Ile, NP_001336933.1:p.Val107Ile, NP_001336938.1:p.Val107Ile, NP_001336943.1:p.Val107Ile, XP_016884035.1:p.Val107Ile, NP_001336941.1:p.Val107Ile, NP_001336942.1:p.Val107Ile, NP_001336946.1:p.Val107Ile, NP_001336936.1:p.Val107Ile, NP_001336932.1:p.Val107Ile, NP_001336934.1:p.Val107Ile, NP_001336937.1:p.Val107Ile, NP_001336945.1:p.Val107Ile, NP_001336935.1:p.Val107Ile, XP_016884040.1:p.Val107Ile, NP_001336940.1:p.Val107Ile, NP_001336939.1:p.Val107Ile, NP_001336944.1:p.Val107Ile, XP_047297041.1:p.Val107Ile, XP_047297044.1:p.Val107Ile, XP_047297046.1:p.Val107Ile, XP_047297051.1:p.Val107Ile, XP_047297054.1:p.Val107Ile, XP_047297047.1:p.Val107Ile, XP_047297055.1:p.Val107Ile, XP_047297052.1:p.Val107Ile, XP_047297049.1:p.Val107Ile, XP_047297050.1:p.Val107Ile, NP_001380983.1:p.Val107Ile, XP_047297042.1:p.Val107Ile, NP_001380984.1:p.Val107Ile, XP_047297056.1:p.Val107Ile, XP_047297043.1:p.Val107Ile, XP_047297053.1:p.Val107Ile, XP_047297045.1:p.Val107Ile, XP_047297048.1:p.Val107Ile, XP_047297057.1:p.Val107Ile, XP_047297059.1:p.Val107Ile, XP_047297058.1:p.Val107Ile

                  9.

                  rs1445224395 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    22:50768788 (GRCh38)
                    22:51207216 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:50768787:A:G
                    Gene:
                    RABL2B (Varview), RPL23AP82 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000016/4 (GnomAD_exomes)
                    G=0.000021/3 (GnomAD)
                    G=0.000049/13 (TOPMED)
                    HGVS:
                    NC_000022.11:g.50768788A>G, NC_000022.10:g.51207216A>G, NW_004070876.1:g.3863A>G, NM_007081.4:c.675T>C, NM_007081.3:c.675T>C, NM_007081.2:c.675T>C, NM_001130921.3:c.678T>C, NM_001130921.2:c.678T>C, NM_001130921.1:c.678T>C, NM_001130923.3:c.705T>C, NM_001130923.2:c.705T>C, NM_001130923.1:c.705T>C, NM_001130920.3:c.678T>C, NM_001130920.2:c.678T>C, NM_001130920.1:c.678T>C, NM_001003789.3:c.678T>C, NM_001003789.2:c.678T>C, NM_001003789.1:c.678T>C, NM_001130922.3:c.675T>C, NM_001130922.2:c.675T>C, NM_001130922.1:c.675T>C, NM_001130919.3:c.678T>C, NM_001130919.2:c.678T>C, NM_001130919.1:c.678T>C, XM_017028543.2:c.708T>C, XM_017028543.1:c.708T>C, XM_017028547.2:c.705T>C, XM_017028547.1:c.705T>C, XM_017028552.2:c.678T>C, XM_017028552.1:c.678T>C, XM_017028556.2:c.675T>C, XM_017028556.1:c.675T>C, XM_017028544.2:c.708T>C, XM_017028544.1:c.708T>C, NM_001350004.2:c.678T>C, NM_001350004.1:c.678T>C, NM_001350009.2:c.708T>C, NM_001350009.1:c.708T>C, NM_001350014.2:c.705T>C, NM_001350014.1:c.705T>C, XM_017028546.2:c.708T>C, XM_017028546.1:c.708T>C, NM_001350012.2:c.708T>C, NM_001350012.1:c.708T>C, NM_001350013.2:c.705T>C, NM_001350013.1:c.705T>C, NM_001350017.2:c.696T>C, NM_001350017.1:c.696T>C, NM_001350007.2:c.675T>C, NM_001350007.1:c.675T>C, NM_001350003.2:c.678T>C, NM_001350003.1:c.678T>C, NM_001350005.2:c.675T>C, NM_001350005.1:c.675T>C, NM_001350008.2:c.708T>C, NM_001350008.1:c.708T>C, NM_001350016.2:c.696T>C, NM_001350016.1:c.696T>C, NM_001350006.2:c.675T>C, NM_001350006.1:c.675T>C, XM_017028551.2:c.693T>C, XM_017028551.1:c.693T>C, NM_001350011.2:c.708T>C, NM_001350011.1:c.708T>C, NM_001350010.2:c.708T>C, NM_001350010.1:c.708T>C, NM_001350015.2:c.705T>C, NM_001350015.1:c.705T>C, XM_047441085.1:c.708T>C, XM_047441088.1:c.705T>C, XM_047441090.1:c.696T>C, XM_047441095.1:c.678T>C, XM_047441098.1:c.675T>C, XM_047441091.1:c.696T>C, XM_047441099.1:c.675T>C, XM_047441096.1:c.678T>C, XM_047441093.1:c.696T>C, XM_047441094.1:c.693T>C, NM_001394054.1:c.678T>C, XM_047441086.1:c.708T>C, NM_001394055.1:c.678T>C, XM_047441100.1:c.675T>C, XM_047441087.1:c.708T>C, XM_047441097.1:c.678T>C, XM_047441089.1:c.705T>C, XM_047441092.1:c.696T>C, XM_047441101.1:c.675T>C

                    10.

                    rs1444932772 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      22:50782197 (GRCh38)
                      22:51220625 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:50782196:CCC:CC
                      Gene:
                      RABL2B (Varview), RPL23AP82 (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CC=0./0 (ALFA)
                      -=0.000011/2 (GnomAD_exomes)
                      -=0.000015/2 (GnomAD)
                      -=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000022.11:g.50782199del, NC_000022.10:g.51220627del, NW_004070876.1:g.17274del, NM_007081.4:c.98del, NM_007081.3:c.98del, NM_007081.2:c.98del, NM_001130921.3:c.98del, NM_001130921.2:c.98del, NM_001130921.1:c.98del, NM_001130923.3:c.98del, NM_001130923.2:c.98del, NM_001130923.1:c.98del, NM_001130920.3:c.98del, NM_001130920.2:c.98del, NM_001130920.1:c.98del, NM_001003789.3:c.98del, NM_001003789.2:c.98del, NM_001003789.1:c.98del, NM_001130922.3:c.98del, NM_001130922.2:c.98del, NM_001130922.1:c.98del, NM_001130919.3:c.98del, NM_001130919.2:c.98del, NM_001130919.1:c.98del, XM_017028543.2:c.98del, XM_017028543.1:c.98del, XM_017028547.2:c.98del, XM_017028547.1:c.98del, XM_017028552.2:c.98del, XM_017028552.1:c.98del, XM_017028556.2:c.98del, XM_017028556.1:c.98del, XM_017028544.2:c.98del, XM_017028544.1:c.98del, NM_001350004.2:c.98del, NM_001350004.1:c.98del, NM_001350009.2:c.98del, NM_001350009.1:c.98del, NM_001350014.2:c.98del, NM_001350014.1:c.98del, XM_017028546.2:c.98del, XM_017028546.1:c.98del, NM_001350012.2:c.98del, NM_001350012.1:c.98del, NM_001350013.2:c.98del, NM_001350013.1:c.98del, NM_001350017.2:c.98del, NM_001350017.1:c.98del, NM_001350007.2:c.98del, NM_001350007.1:c.98del, NM_001350003.2:c.98del, NM_001350003.1:c.98del, NM_001350005.2:c.98del, NM_001350005.1:c.98del, NM_001350008.2:c.98del, NM_001350008.1:c.98del, NM_001350016.2:c.98del, NM_001350016.1:c.98del, NM_001350006.2:c.98del, NM_001350006.1:c.98del, XM_017028551.2:c.98del, XM_017028551.1:c.98del, NM_001350011.2:c.98del, NM_001350011.1:c.98del, NM_001350010.2:c.98del, NM_001350010.1:c.98del, NM_001350015.2:c.98del, NM_001350015.1:c.98del, XM_047441085.1:c.98del, XM_047441088.1:c.98del, XM_047441090.1:c.98del, XM_047441095.1:c.98del, XM_047441098.1:c.98del, XM_047441091.1:c.98del, XM_047441099.1:c.98del, XM_047441096.1:c.98del, XM_047441093.1:c.98del, XM_047441094.1:c.98del, NM_001394054.1:c.98del, XM_047441086.1:c.98del, NM_001394055.1:c.98del, XM_047441100.1:c.98del, XM_047441087.1:c.98del, XM_047441097.1:c.98del, XM_047441089.1:c.98del, XM_047441092.1:c.98del, XM_047441101.1:c.98del, XM_047441103.1:c.98del, XM_047441102.1:c.98del, NP_009012.1:p.Gly33fs, NP_001124393.1:p.Gly33fs, NP_001124395.1:p.Gly33fs, NP_001124392.1:p.Gly33fs, NP_001003789.1:p.Gly33fs, NP_001124394.1:p.Gly33fs, NP_001124391.1:p.Gly33fs, XP_016884032.1:p.Gly33fs, XP_016884036.1:p.Gly33fs, XP_016884041.1:p.Gly33fs, XP_016884045.1:p.Gly33fs, XP_016884033.1:p.Gly33fs, NP_001336933.1:p.Gly33fs, NP_001336938.1:p.Gly33fs, NP_001336943.1:p.Gly33fs, XP_016884035.1:p.Gly33fs, NP_001336941.1:p.Gly33fs, NP_001336942.1:p.Gly33fs, NP_001336946.1:p.Gly33fs, NP_001336936.1:p.Gly33fs, NP_001336932.1:p.Gly33fs, NP_001336934.1:p.Gly33fs, NP_001336937.1:p.Gly33fs, NP_001336945.1:p.Gly33fs, NP_001336935.1:p.Gly33fs, XP_016884040.1:p.Gly33fs, NP_001336940.1:p.Gly33fs, NP_001336939.1:p.Gly33fs, NP_001336944.1:p.Gly33fs, XP_047297041.1:p.Gly33fs, XP_047297044.1:p.Gly33fs, XP_047297046.1:p.Gly33fs, XP_047297051.1:p.Gly33fs, XP_047297054.1:p.Gly33fs, XP_047297047.1:p.Gly33fs, XP_047297055.1:p.Gly33fs, XP_047297052.1:p.Gly33fs, XP_047297049.1:p.Gly33fs, XP_047297050.1:p.Gly33fs, NP_001380983.1:p.Gly33fs, XP_047297042.1:p.Gly33fs, NP_001380984.1:p.Gly33fs, XP_047297056.1:p.Gly33fs, XP_047297043.1:p.Gly33fs, XP_047297053.1:p.Gly33fs, XP_047297045.1:p.Gly33fs, XP_047297048.1:p.Gly33fs, XP_047297057.1:p.Gly33fs, XP_047297059.1:p.Gly33fs, XP_047297058.1:p.Gly33fs

                      11.

                      rs1419871398 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        22:50769450 (GRCh38)
                        22:51207878 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:50769449:C:T
                        Gene:
                        RABL2B (Varview), RPL23AP82 (Varview)
                        Functional Consequence:
                        stop_gained,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000022.11:g.50769450C>T, NC_000022.10:g.51207878C>T, NW_004070876.1:g.4525C>T, NM_001130923.3:c.509G>A, NM_001130923.2:c.509G>A, NM_001130923.1:c.509G>A, XM_017028543.2:c.512G>A, XM_017028543.1:c.512G>A, XM_017028547.2:c.509G>A, XM_017028547.1:c.509G>A, XM_017028544.2:c.512G>A, XM_017028544.1:c.512G>A, NM_001350009.2:c.512G>A, NM_001350009.1:c.512G>A, NM_001350014.2:c.509G>A, NM_001350014.1:c.509G>A, XM_017028546.2:c.512G>A, XM_017028546.1:c.512G>A, NM_001350012.2:c.512G>A, NM_001350012.1:c.512G>A, NM_001350013.2:c.509G>A, NM_001350013.1:c.509G>A, NM_001350017.2:c.512G>A, NM_001350017.1:c.512G>A, NM_001350008.2:c.512G>A, NM_001350008.1:c.512G>A, NM_001350016.2:c.512G>A, NM_001350016.1:c.512G>A, XM_017028551.2:c.509G>A, XM_017028551.1:c.509G>A, NM_001350011.2:c.512G>A, NM_001350011.1:c.512G>A, NM_001350010.2:c.512G>A, NM_001350010.1:c.512G>A, NM_001350015.2:c.509G>A, NM_001350015.1:c.509G>A, XM_047441085.1:c.512G>A, XM_047441088.1:c.509G>A, XM_047441090.1:c.512G>A, XM_047441091.1:c.512G>A, XM_047441093.1:c.512G>A, XM_047441094.1:c.509G>A, XM_047441086.1:c.512G>A, XM_047441087.1:c.512G>A, XM_047441089.1:c.509G>A, XM_047441092.1:c.512G>A, NP_001124395.1:p.Trp170Ter, XP_016884032.1:p.Trp171Ter, XP_016884036.1:p.Trp170Ter, XP_016884033.1:p.Trp171Ter, NP_001336938.1:p.Trp171Ter, NP_001336943.1:p.Trp170Ter, XP_016884035.1:p.Trp171Ter, NP_001336941.1:p.Trp171Ter, NP_001336942.1:p.Trp170Ter, NP_001336946.1:p.Trp171Ter, NP_001336937.1:p.Trp171Ter, NP_001336945.1:p.Trp171Ter, XP_016884040.1:p.Trp170Ter, NP_001336940.1:p.Trp171Ter, NP_001336939.1:p.Trp171Ter, NP_001336944.1:p.Trp170Ter, XP_047297041.1:p.Trp171Ter, XP_047297044.1:p.Trp170Ter, XP_047297046.1:p.Trp171Ter, XP_047297047.1:p.Trp171Ter, XP_047297049.1:p.Trp171Ter, XP_047297050.1:p.Trp170Ter, XP_047297042.1:p.Trp171Ter, XP_047297043.1:p.Trp171Ter, XP_047297045.1:p.Trp170Ter, XP_047297048.1:p.Trp171Ter

                        12.

                        rs1412901444 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          22:50776707 (GRCh38)
                          22:51215135 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:50776706:C:G
                          Gene:
                          RABL2B (Varview), RPL23AP82 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000071/1 (ALFA)
                          G=0.000007/1 (GnomAD)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000022.11:g.50776707C>G, NC_000022.10:g.51215135C>G, NW_004070876.1:g.11782C>G, NM_007081.4:c.180G>C, NM_007081.3:c.180G>C, NM_007081.2:c.180G>C, NM_001130921.3:c.180G>C, NM_001130921.2:c.180G>C, NM_001130921.1:c.180G>C, NM_001130923.3:c.180G>C, NM_001130923.2:c.180G>C, NM_001130923.1:c.180G>C, NM_001130920.3:c.180G>C, NM_001130920.2:c.180G>C, NM_001130920.1:c.180G>C, NM_001003789.3:c.180G>C, NM_001003789.2:c.180G>C, NM_001003789.1:c.180G>C, NM_001130922.3:c.180G>C, NM_001130922.2:c.180G>C, NM_001130922.1:c.180G>C, NM_001130919.3:c.180G>C, NM_001130919.2:c.180G>C, NM_001130919.1:c.180G>C, XM_017028543.2:c.180G>C, XM_017028543.1:c.180G>C, XM_017028547.2:c.180G>C, XM_017028547.1:c.180G>C, XM_017028552.2:c.180G>C, XM_017028552.1:c.180G>C, XM_017028556.2:c.180G>C, XM_017028556.1:c.180G>C, XM_017028544.2:c.180G>C, XM_017028544.1:c.180G>C, NM_001350004.2:c.180G>C, NM_001350004.1:c.180G>C, NM_001350009.2:c.180G>C, NM_001350009.1:c.180G>C, NM_001350014.2:c.180G>C, NM_001350014.1:c.180G>C, XM_017028546.2:c.180G>C, XM_017028546.1:c.180G>C, NM_001350012.2:c.180G>C, NM_001350012.1:c.180G>C, NM_001350013.2:c.180G>C, NM_001350013.1:c.180G>C, NM_001350017.2:c.180G>C, NM_001350017.1:c.180G>C, NM_001350007.2:c.180G>C, NM_001350007.1:c.180G>C, NM_001350003.2:c.180G>C, NM_001350003.1:c.180G>C, NM_001350005.2:c.180G>C, NM_001350005.1:c.180G>C, NM_001350008.2:c.180G>C, NM_001350008.1:c.180G>C, NM_001350016.2:c.180G>C, NM_001350016.1:c.180G>C, NM_001350006.2:c.180G>C, NM_001350006.1:c.180G>C, XM_017028551.2:c.180G>C, XM_017028551.1:c.180G>C, NM_001350011.2:c.180G>C, NM_001350011.1:c.180G>C, NM_001350010.2:c.180G>C, NM_001350010.1:c.180G>C, NM_001350015.2:c.180G>C, NM_001350015.1:c.180G>C, XM_047441085.1:c.180G>C, XM_047441088.1:c.180G>C, XM_047441090.1:c.180G>C, XM_047441095.1:c.180G>C, XM_047441098.1:c.180G>C, XM_047441091.1:c.180G>C, XM_047441099.1:c.180G>C, XM_047441096.1:c.180G>C, XM_047441093.1:c.180G>C, XM_047441094.1:c.180G>C, NM_001394054.1:c.180G>C, XM_047441086.1:c.180G>C, NM_001394055.1:c.180G>C, XM_047441100.1:c.180G>C, XM_047441087.1:c.180G>C, XM_047441097.1:c.180G>C, XM_047441089.1:c.180G>C, XM_047441092.1:c.180G>C, XM_047441101.1:c.180G>C, XM_047441103.1:c.180G>C, XM_047441102.1:c.180G>C, NP_009012.1:p.Lys60Asn, NP_001124393.1:p.Lys60Asn, NP_001124395.1:p.Lys60Asn, NP_001124392.1:p.Lys60Asn, NP_001003789.1:p.Lys60Asn, NP_001124394.1:p.Lys60Asn, NP_001124391.1:p.Lys60Asn, XP_016884032.1:p.Lys60Asn, XP_016884036.1:p.Lys60Asn, XP_016884041.1:p.Lys60Asn, XP_016884045.1:p.Lys60Asn, XP_016884033.1:p.Lys60Asn, NP_001336933.1:p.Lys60Asn, NP_001336938.1:p.Lys60Asn, NP_001336943.1:p.Lys60Asn, XP_016884035.1:p.Lys60Asn, NP_001336941.1:p.Lys60Asn, NP_001336942.1:p.Lys60Asn, NP_001336946.1:p.Lys60Asn, NP_001336936.1:p.Lys60Asn, NP_001336932.1:p.Lys60Asn, NP_001336934.1:p.Lys60Asn, NP_001336937.1:p.Lys60Asn, NP_001336945.1:p.Lys60Asn, NP_001336935.1:p.Lys60Asn, XP_016884040.1:p.Lys60Asn, NP_001336940.1:p.Lys60Asn, NP_001336939.1:p.Lys60Asn, NP_001336944.1:p.Lys60Asn, XP_047297041.1:p.Lys60Asn, XP_047297044.1:p.Lys60Asn, XP_047297046.1:p.Lys60Asn, XP_047297051.1:p.Lys60Asn, XP_047297054.1:p.Lys60Asn, XP_047297047.1:p.Lys60Asn, XP_047297055.1:p.Lys60Asn, XP_047297052.1:p.Lys60Asn, XP_047297049.1:p.Lys60Asn, XP_047297050.1:p.Lys60Asn, NP_001380983.1:p.Lys60Asn, XP_047297042.1:p.Lys60Asn, NP_001380984.1:p.Lys60Asn, XP_047297056.1:p.Lys60Asn, XP_047297043.1:p.Lys60Asn, XP_047297053.1:p.Lys60Asn, XP_047297045.1:p.Lys60Asn, XP_047297048.1:p.Lys60Asn, XP_047297057.1:p.Lys60Asn, XP_047297059.1:p.Lys60Asn, XP_047297058.1:p.Lys60Asn

                          13.

                          rs1406276856 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            22:50769428 (GRCh38)
                            22:51207856 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:50769427:G:C,NC_000022.11:50769427:G:T
                            Gene:
                            RABL2B (Varview), RPL23AP82 (Varview)
                            Functional Consequence:
                            intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            NC_000022.11:g.50769428G>C, NC_000022.11:g.50769428G>T, NC_000022.10:g.51207856G>C, NC_000022.10:g.51207856G>T, NW_004070876.1:g.4503G>C, NW_004070876.1:g.4503G>T, NM_001130923.3:c.531C>G, NM_001130923.3:c.531C>A, NM_001130923.2:c.531C>G, NM_001130923.2:c.531C>A, NM_001130923.1:c.531C>G, NM_001130923.1:c.531C>A, XM_017028543.2:c.534C>G, XM_017028543.2:c.534C>A, XM_017028543.1:c.534C>G, XM_017028543.1:c.534C>A, XM_017028547.2:c.531C>G, XM_017028547.2:c.531C>A, XM_017028547.1:c.531C>G, XM_017028547.1:c.531C>A, XM_017028544.2:c.534C>G, XM_017028544.2:c.534C>A, XM_017028544.1:c.534C>G, XM_017028544.1:c.534C>A, NM_001350009.2:c.534C>G, NM_001350009.2:c.534C>A, NM_001350009.1:c.534C>G, NM_001350009.1:c.534C>A, NM_001350014.2:c.531C>G, NM_001350014.2:c.531C>A, NM_001350014.1:c.531C>G, NM_001350014.1:c.531C>A, XM_017028546.2:c.534C>G, XM_017028546.2:c.534C>A, XM_017028546.1:c.534C>G, XM_017028546.1:c.534C>A, NM_001350012.2:c.534C>G, NM_001350012.2:c.534C>A, NM_001350012.1:c.534C>G, NM_001350012.1:c.534C>A, NM_001350013.2:c.531C>G, NM_001350013.2:c.531C>A, NM_001350013.1:c.531C>G, NM_001350013.1:c.531C>A, NM_001350008.2:c.534C>G, NM_001350008.2:c.534C>A, NM_001350008.1:c.534C>G, NM_001350008.1:c.534C>A, NM_001350011.2:c.534C>G, NM_001350011.2:c.534C>A, NM_001350011.1:c.534C>G, NM_001350011.1:c.534C>A, NM_001350010.2:c.534C>G, NM_001350010.2:c.534C>A, NM_001350010.1:c.534C>G, NM_001350010.1:c.534C>A, NM_001350015.2:c.531C>G, NM_001350015.2:c.531C>A, NM_001350015.1:c.531C>G, NM_001350015.1:c.531C>A, XM_047441085.1:c.534C>G, XM_047441085.1:c.534C>A, XM_047441088.1:c.531C>G, XM_047441088.1:c.531C>A, XM_047441086.1:c.534C>G, XM_047441086.1:c.534C>A, XM_047441087.1:c.534C>G, XM_047441087.1:c.534C>A, XM_047441089.1:c.531C>G, XM_047441089.1:c.531C>A, NP_001124395.1:p.Ser177Arg, NP_001124395.1:p.Ser177Arg, XP_016884032.1:p.Ser178Arg, XP_016884032.1:p.Ser178Arg, XP_016884036.1:p.Ser177Arg, XP_016884036.1:p.Ser177Arg, XP_016884033.1:p.Ser178Arg, XP_016884033.1:p.Ser178Arg, NP_001336938.1:p.Ser178Arg, NP_001336938.1:p.Ser178Arg, NP_001336943.1:p.Ser177Arg, NP_001336943.1:p.Ser177Arg, XP_016884035.1:p.Ser178Arg, XP_016884035.1:p.Ser178Arg, NP_001336941.1:p.Ser178Arg, NP_001336941.1:p.Ser178Arg, NP_001336942.1:p.Ser177Arg, NP_001336942.1:p.Ser177Arg, NP_001336937.1:p.Ser178Arg, NP_001336937.1:p.Ser178Arg, NP_001336940.1:p.Ser178Arg, NP_001336940.1:p.Ser178Arg, NP_001336939.1:p.Ser178Arg, NP_001336939.1:p.Ser178Arg, NP_001336944.1:p.Ser177Arg, NP_001336944.1:p.Ser177Arg, XP_047297041.1:p.Ser178Arg, XP_047297041.1:p.Ser178Arg, XP_047297044.1:p.Ser177Arg, XP_047297044.1:p.Ser177Arg, XP_047297042.1:p.Ser178Arg, XP_047297042.1:p.Ser178Arg, XP_047297043.1:p.Ser178Arg, XP_047297043.1:p.Ser178Arg, XP_047297045.1:p.Ser177Arg, XP_047297045.1:p.Ser177Arg

                            14.

                            rs1404778989 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,T [Show Flanks]
                              Chromosome:
                              22:50768860 (GRCh38)
                              22:51207288 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:50768859:C:A,NC_000022.11:50768859:C:T
                              Gene:
                              RABL2B (Varview), RPL23AP82 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000022.11:g.50768860C>A, NC_000022.11:g.50768860C>T, NC_000022.10:g.51207288C>A, NC_000022.10:g.51207288C>T, NW_004070876.1:g.3935C>A, NW_004070876.1:g.3935C>T, NM_007081.4:c.603G>T, NM_007081.4:c.603G>A, NM_007081.3:c.603G>T, NM_007081.3:c.603G>A, NM_007081.2:c.603G>T, NM_007081.2:c.603G>A, NM_001130921.3:c.606G>T, NM_001130921.3:c.606G>A, NM_001130921.2:c.606G>T, NM_001130921.2:c.606G>A, NM_001130921.1:c.606G>T, NM_001130921.1:c.606G>A, NM_001130923.3:c.633G>T, NM_001130923.3:c.633G>A, NM_001130923.2:c.633G>T, NM_001130923.2:c.633G>A, NM_001130923.1:c.633G>T, NM_001130923.1:c.633G>A, NM_001130920.3:c.606G>T, NM_001130920.3:c.606G>A, NM_001130920.2:c.606G>T, NM_001130920.2:c.606G>A, NM_001130920.1:c.606G>T, NM_001130920.1:c.606G>A, NM_001003789.3:c.606G>T, NM_001003789.3:c.606G>A, NM_001003789.2:c.606G>T, NM_001003789.2:c.606G>A, NM_001003789.1:c.606G>T, NM_001003789.1:c.606G>A, NM_001130922.3:c.603G>T, NM_001130922.3:c.603G>A, NM_001130922.2:c.603G>T, NM_001130922.2:c.603G>A, NM_001130922.1:c.603G>T, NM_001130922.1:c.603G>A, NM_001130919.3:c.606G>T, NM_001130919.3:c.606G>A, NM_001130919.2:c.606G>T, NM_001130919.2:c.606G>A, NM_001130919.1:c.606G>T, NM_001130919.1:c.606G>A, XM_017028543.2:c.636G>T, XM_017028543.2:c.636G>A, XM_017028543.1:c.636G>T, XM_017028543.1:c.636G>A, XM_017028547.2:c.633G>T, XM_017028547.2:c.633G>A, XM_017028547.1:c.633G>T, XM_017028547.1:c.633G>A, XM_017028552.2:c.606G>T, XM_017028552.2:c.606G>A, XM_017028552.1:c.606G>T, XM_017028552.1:c.606G>A, XM_017028556.2:c.603G>T, XM_017028556.2:c.603G>A, XM_017028556.1:c.603G>T, XM_017028556.1:c.603G>A, XM_017028544.2:c.636G>T, XM_017028544.2:c.636G>A, XM_017028544.1:c.636G>T, XM_017028544.1:c.636G>A, NM_001350004.2:c.606G>T, NM_001350004.2:c.606G>A, NM_001350004.1:c.606G>T, NM_001350004.1:c.606G>A, NM_001350009.2:c.636G>T, NM_001350009.2:c.636G>A, NM_001350009.1:c.636G>T, NM_001350009.1:c.636G>A, NM_001350014.2:c.633G>T, NM_001350014.2:c.633G>A, NM_001350014.1:c.633G>T, NM_001350014.1:c.633G>A, XM_017028546.2:c.636G>T, XM_017028546.2:c.636G>A, XM_017028546.1:c.636G>T, XM_017028546.1:c.636G>A, NM_001350012.2:c.636G>T, NM_001350012.2:c.636G>A, NM_001350012.1:c.636G>T, NM_001350012.1:c.636G>A, NM_001350013.2:c.633G>T, NM_001350013.2:c.633G>A, NM_001350013.1:c.633G>T, NM_001350013.1:c.633G>A, NM_001350017.2:c.624G>T, NM_001350017.2:c.624G>A, NM_001350017.1:c.624G>T, NM_001350017.1:c.624G>A, NM_001350007.2:c.603G>T, NM_001350007.2:c.603G>A, NM_001350007.1:c.603G>T, NM_001350007.1:c.603G>A, NM_001350003.2:c.606G>T, NM_001350003.2:c.606G>A, NM_001350003.1:c.606G>T, NM_001350003.1:c.606G>A, NM_001350005.2:c.603G>T, NM_001350005.2:c.603G>A, NM_001350005.1:c.603G>T, NM_001350005.1:c.603G>A, NM_001350008.2:c.636G>T, NM_001350008.2:c.636G>A, NM_001350008.1:c.636G>T, NM_001350008.1:c.636G>A, NM_001350016.2:c.624G>T, NM_001350016.2:c.624G>A, NM_001350016.1:c.624G>T, NM_001350016.1:c.624G>A, NM_001350006.2:c.603G>T, NM_001350006.2:c.603G>A, NM_001350006.1:c.603G>T, NM_001350006.1:c.603G>A, XM_017028551.2:c.621G>T, XM_017028551.2:c.621G>A, XM_017028551.1:c.621G>T, XM_017028551.1:c.621G>A, NM_001350011.2:c.636G>T, NM_001350011.2:c.636G>A, NM_001350011.1:c.636G>T, NM_001350011.1:c.636G>A, NM_001350010.2:c.636G>T, NM_001350010.2:c.636G>A, NM_001350010.1:c.636G>T, NM_001350010.1:c.636G>A, NM_001350015.2:c.633G>T, NM_001350015.2:c.633G>A, NM_001350015.1:c.633G>T, NM_001350015.1:c.633G>A, XM_047441085.1:c.636G>T, XM_047441085.1:c.636G>A, XM_047441088.1:c.633G>T, XM_047441088.1:c.633G>A, XM_047441090.1:c.624G>T, XM_047441090.1:c.624G>A, XM_047441095.1:c.606G>T, XM_047441095.1:c.606G>A, XM_047441098.1:c.603G>T, XM_047441098.1:c.603G>A, XM_047441091.1:c.624G>T, XM_047441091.1:c.624G>A, XM_047441099.1:c.603G>T, XM_047441099.1:c.603G>A, XM_047441096.1:c.606G>T, XM_047441096.1:c.606G>A, XM_047441093.1:c.624G>T, XM_047441093.1:c.624G>A, XM_047441094.1:c.621G>T, XM_047441094.1:c.621G>A, NM_001394054.1:c.606G>T, NM_001394054.1:c.606G>A, XM_047441086.1:c.636G>T, XM_047441086.1:c.636G>A, NM_001394055.1:c.606G>T, NM_001394055.1:c.606G>A, XM_047441100.1:c.603G>T, XM_047441100.1:c.603G>A, XM_047441087.1:c.636G>T, XM_047441087.1:c.636G>A, XM_047441097.1:c.606G>T, XM_047441097.1:c.606G>A, XM_047441089.1:c.633G>T, XM_047441089.1:c.633G>A, XM_047441092.1:c.624G>T, XM_047441092.1:c.624G>A, XM_047441101.1:c.603G>T, XM_047441101.1:c.603G>A, NP_009012.1:p.Glu201Asp, NP_001124393.1:p.Glu202Asp, NP_001124395.1:p.Glu211Asp, NP_001124392.1:p.Glu202Asp, NP_001003789.1:p.Glu202Asp, NP_001124394.1:p.Glu201Asp, NP_001124391.1:p.Glu202Asp, XP_016884032.1:p.Glu212Asp, XP_016884036.1:p.Glu211Asp, XP_016884041.1:p.Glu202Asp, XP_016884045.1:p.Glu201Asp, XP_016884033.1:p.Glu212Asp, NP_001336933.1:p.Glu202Asp, NP_001336938.1:p.Glu212Asp, NP_001336943.1:p.Glu211Asp, XP_016884035.1:p.Glu212Asp, NP_001336941.1:p.Glu212Asp, NP_001336942.1:p.Glu211Asp, NP_001336946.1:p.Glu208Asp, NP_001336936.1:p.Glu201Asp, NP_001336932.1:p.Glu202Asp, NP_001336934.1:p.Glu201Asp, NP_001336937.1:p.Glu212Asp, NP_001336945.1:p.Glu208Asp, NP_001336935.1:p.Glu201Asp, XP_016884040.1:p.Glu207Asp, NP_001336940.1:p.Glu212Asp, NP_001336939.1:p.Glu212Asp, NP_001336944.1:p.Glu211Asp, XP_047297041.1:p.Glu212Asp, XP_047297044.1:p.Glu211Asp, XP_047297046.1:p.Glu208Asp, XP_047297051.1:p.Glu202Asp, XP_047297054.1:p.Glu201Asp, XP_047297047.1:p.Glu208Asp, XP_047297055.1:p.Glu201Asp, XP_047297052.1:p.Glu202Asp, XP_047297049.1:p.Glu208Asp, XP_047297050.1:p.Glu207Asp, NP_001380983.1:p.Glu202Asp, XP_047297042.1:p.Glu212Asp, NP_001380984.1:p.Glu202Asp, XP_047297056.1:p.Glu201Asp, XP_047297043.1:p.Glu212Asp, XP_047297053.1:p.Glu202Asp, XP_047297045.1:p.Glu211Asp, XP_047297048.1:p.Glu208Asp, XP_047297057.1:p.Glu201Asp

                              15.

                              rs1388649842 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                22:50768862 (GRCh38)
                                22:51207290 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:50768861:C:T
                                Gene:
                                RABL2B (Varview), RPL23AP82 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_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=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000022.11:g.50768862C>T, NC_000022.10:g.51207290C>T, NW_004070876.1:g.3937C>T, NM_007081.4:c.601G>A, NM_007081.3:c.601G>A, NM_007081.2:c.601G>A, NM_001130921.3:c.604G>A, NM_001130921.2:c.604G>A, NM_001130921.1:c.604G>A, NM_001130923.3:c.631G>A, NM_001130923.2:c.631G>A, NM_001130923.1:c.631G>A, NM_001130920.3:c.604G>A, NM_001130920.2:c.604G>A, NM_001130920.1:c.604G>A, NM_001003789.3:c.604G>A, NM_001003789.2:c.604G>A, NM_001003789.1:c.604G>A, NM_001130922.3:c.601G>A, NM_001130922.2:c.601G>A, NM_001130922.1:c.601G>A, NM_001130919.3:c.604G>A, NM_001130919.2:c.604G>A, NM_001130919.1:c.604G>A, XM_017028543.2:c.634G>A, XM_017028543.1:c.634G>A, XM_017028547.2:c.631G>A, XM_017028547.1:c.631G>A, XM_017028552.2:c.604G>A, XM_017028552.1:c.604G>A, XM_017028556.2:c.601G>A, XM_017028556.1:c.601G>A, XM_017028544.2:c.634G>A, XM_017028544.1:c.634G>A, NM_001350004.2:c.604G>A, NM_001350004.1:c.604G>A, NM_001350009.2:c.634G>A, NM_001350009.1:c.634G>A, NM_001350014.2:c.631G>A, NM_001350014.1:c.631G>A, XM_017028546.2:c.634G>A, XM_017028546.1:c.634G>A, NM_001350012.2:c.634G>A, NM_001350012.1:c.634G>A, NM_001350013.2:c.631G>A, NM_001350013.1:c.631G>A, NM_001350017.2:c.622G>A, NM_001350017.1:c.622G>A, NM_001350007.2:c.601G>A, NM_001350007.1:c.601G>A, NM_001350003.2:c.604G>A, NM_001350003.1:c.604G>A, NM_001350005.2:c.601G>A, NM_001350005.1:c.601G>A, NM_001350008.2:c.634G>A, NM_001350008.1:c.634G>A, NM_001350016.2:c.622G>A, NM_001350016.1:c.622G>A, NM_001350006.2:c.601G>A, NM_001350006.1:c.601G>A, XM_017028551.2:c.619G>A, XM_017028551.1:c.619G>A, NM_001350011.2:c.634G>A, NM_001350011.1:c.634G>A, NM_001350010.2:c.634G>A, NM_001350010.1:c.634G>A, NM_001350015.2:c.631G>A, NM_001350015.1:c.631G>A, XM_047441085.1:c.634G>A, XM_047441088.1:c.631G>A, XM_047441090.1:c.622G>A, XM_047441095.1:c.604G>A, XM_047441098.1:c.601G>A, XM_047441091.1:c.622G>A, XM_047441099.1:c.601G>A, XM_047441096.1:c.604G>A, XM_047441093.1:c.622G>A, XM_047441094.1:c.619G>A, NM_001394054.1:c.604G>A, XM_047441086.1:c.634G>A, NM_001394055.1:c.604G>A, XM_047441100.1:c.601G>A, XM_047441087.1:c.634G>A, XM_047441097.1:c.604G>A, XM_047441089.1:c.631G>A, XM_047441092.1:c.622G>A, XM_047441101.1:c.601G>A, NP_009012.1:p.Glu201Lys, NP_001124393.1:p.Glu202Lys, NP_001124395.1:p.Glu211Lys, NP_001124392.1:p.Glu202Lys, NP_001003789.1:p.Glu202Lys, NP_001124394.1:p.Glu201Lys, NP_001124391.1:p.Glu202Lys, XP_016884032.1:p.Glu212Lys, XP_016884036.1:p.Glu211Lys, XP_016884041.1:p.Glu202Lys, XP_016884045.1:p.Glu201Lys, XP_016884033.1:p.Glu212Lys, NP_001336933.1:p.Glu202Lys, NP_001336938.1:p.Glu212Lys, NP_001336943.1:p.Glu211Lys, XP_016884035.1:p.Glu212Lys, NP_001336941.1:p.Glu212Lys, NP_001336942.1:p.Glu211Lys, NP_001336946.1:p.Glu208Lys, NP_001336936.1:p.Glu201Lys, NP_001336932.1:p.Glu202Lys, NP_001336934.1:p.Glu201Lys, NP_001336937.1:p.Glu212Lys, NP_001336945.1:p.Glu208Lys, NP_001336935.1:p.Glu201Lys, XP_016884040.1:p.Glu207Lys, NP_001336940.1:p.Glu212Lys, NP_001336939.1:p.Glu212Lys, NP_001336944.1:p.Glu211Lys, XP_047297041.1:p.Glu212Lys, XP_047297044.1:p.Glu211Lys, XP_047297046.1:p.Glu208Lys, XP_047297051.1:p.Glu202Lys, XP_047297054.1:p.Glu201Lys, XP_047297047.1:p.Glu208Lys, XP_047297055.1:p.Glu201Lys, XP_047297052.1:p.Glu202Lys, XP_047297049.1:p.Glu208Lys, XP_047297050.1:p.Glu207Lys, NP_001380983.1:p.Glu202Lys, XP_047297042.1:p.Glu212Lys, NP_001380984.1:p.Glu202Lys, XP_047297056.1:p.Glu201Lys, XP_047297043.1:p.Glu212Lys, XP_047297053.1:p.Glu202Lys, XP_047297045.1:p.Glu211Lys, XP_047297048.1:p.Glu208Lys, XP_047297057.1:p.Glu201Lys

                                16.

                                rs1384457269 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  22:50770011 (GRCh38)
                                  22:51208439 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:50770010:A:C
                                  Gene:
                                  RABL2B (Varview), RPL23AP82 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000022.11:g.50770011A>C, NC_000022.10:g.51208439A>C, NW_004070876.1:g.5086A>C, NM_007081.4:c.303T>G, NM_007081.3:c.303T>G, NM_007081.2:c.303T>G, NM_001130921.3:c.303T>G, NM_001130921.2:c.303T>G, NM_001130921.1:c.303T>G, NM_001130923.3:c.303T>G, NM_001130923.2:c.303T>G, NM_001130923.1:c.303T>G, NM_001130920.3:c.303T>G, NM_001130920.2:c.303T>G, NM_001130920.1:c.303T>G, NM_001003789.3:c.303T>G, NM_001003789.2:c.303T>G, NM_001003789.1:c.303T>G, NM_001130922.3:c.303T>G, NM_001130922.2:c.303T>G, NM_001130922.1:c.303T>G, NM_001130919.3:c.303T>G, NM_001130919.2:c.303T>G, NM_001130919.1:c.303T>G, XM_017028543.2:c.303T>G, XM_017028543.1:c.303T>G, XM_017028547.2:c.303T>G, XM_017028547.1:c.303T>G, XM_017028552.2:c.303T>G, XM_017028552.1:c.303T>G, XM_017028556.2:c.303T>G, XM_017028556.1:c.303T>G, XM_017028544.2:c.303T>G, XM_017028544.1:c.303T>G, NM_001350004.2:c.303T>G, NM_001350004.1:c.303T>G, NM_001350009.2:c.303T>G, NM_001350009.1:c.303T>G, NM_001350014.2:c.303T>G, NM_001350014.1:c.303T>G, XM_017028546.2:c.303T>G, XM_017028546.1:c.303T>G, NM_001350012.2:c.303T>G, NM_001350012.1:c.303T>G, NM_001350013.2:c.303T>G, NM_001350013.1:c.303T>G, NM_001350017.2:c.303T>G, NM_001350017.1:c.303T>G, NM_001350007.2:c.303T>G, NM_001350007.1:c.303T>G, NM_001350003.2:c.303T>G, NM_001350003.1:c.303T>G, NM_001350005.2:c.303T>G, NM_001350005.1:c.303T>G, NM_001350008.2:c.303T>G, NM_001350008.1:c.303T>G, NM_001350016.2:c.303T>G, NM_001350016.1:c.303T>G, NM_001350006.2:c.303T>G, NM_001350006.1:c.303T>G, XM_017028551.2:c.303T>G, XM_017028551.1:c.303T>G, NM_001350011.2:c.303T>G, NM_001350011.1:c.303T>G, NM_001350010.2:c.303T>G, NM_001350010.1:c.303T>G, NM_001350015.2:c.303T>G, NM_001350015.1:c.303T>G, XM_047441085.1:c.303T>G, XM_047441088.1:c.303T>G, XM_047441090.1:c.303T>G, XM_047441095.1:c.303T>G, XM_047441098.1:c.303T>G, XM_047441091.1:c.303T>G, XM_047441099.1:c.303T>G, XM_047441096.1:c.303T>G, XM_047441093.1:c.303T>G, XM_047441094.1:c.303T>G, NM_001394054.1:c.303T>G, XM_047441086.1:c.303T>G, NM_001394055.1:c.303T>G, XM_047441100.1:c.303T>G, XM_047441087.1:c.303T>G, XM_047441097.1:c.303T>G, XM_047441089.1:c.303T>G, XM_047441092.1:c.303T>G, XM_047441101.1:c.303T>G, XM_047441103.1:c.303T>G, XM_047441102.1:c.303T>G, NP_009012.1:p.Phe101Leu, NP_001124393.1:p.Phe101Leu, NP_001124395.1:p.Phe101Leu, NP_001124392.1:p.Phe101Leu, NP_001003789.1:p.Phe101Leu, NP_001124394.1:p.Phe101Leu, NP_001124391.1:p.Phe101Leu, XP_016884032.1:p.Phe101Leu, XP_016884036.1:p.Phe101Leu, XP_016884041.1:p.Phe101Leu, XP_016884045.1:p.Phe101Leu, XP_016884033.1:p.Phe101Leu, NP_001336933.1:p.Phe101Leu, NP_001336938.1:p.Phe101Leu, NP_001336943.1:p.Phe101Leu, XP_016884035.1:p.Phe101Leu, NP_001336941.1:p.Phe101Leu, NP_001336942.1:p.Phe101Leu, NP_001336946.1:p.Phe101Leu, NP_001336936.1:p.Phe101Leu, NP_001336932.1:p.Phe101Leu, NP_001336934.1:p.Phe101Leu, NP_001336937.1:p.Phe101Leu, NP_001336945.1:p.Phe101Leu, NP_001336935.1:p.Phe101Leu, XP_016884040.1:p.Phe101Leu, NP_001336940.1:p.Phe101Leu, NP_001336939.1:p.Phe101Leu, NP_001336944.1:p.Phe101Leu, XP_047297041.1:p.Phe101Leu, XP_047297044.1:p.Phe101Leu, XP_047297046.1:p.Phe101Leu, XP_047297051.1:p.Phe101Leu, XP_047297054.1:p.Phe101Leu, XP_047297047.1:p.Phe101Leu, XP_047297055.1:p.Phe101Leu, XP_047297052.1:p.Phe101Leu, XP_047297049.1:p.Phe101Leu, XP_047297050.1:p.Phe101Leu, NP_001380983.1:p.Phe101Leu, XP_047297042.1:p.Phe101Leu, NP_001380984.1:p.Phe101Leu, XP_047297056.1:p.Phe101Leu, XP_047297043.1:p.Phe101Leu, XP_047297053.1:p.Phe101Leu, XP_047297045.1:p.Phe101Leu, XP_047297048.1:p.Phe101Leu, XP_047297057.1:p.Phe101Leu, XP_047297059.1:p.Phe101Leu, XP_047297058.1:p.Phe101Leu

                                  17.

                                  rs1383813466 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    22:50782277 (GRCh38)
                                    22:51220705 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:50782276:G:A,NC_000022.11:50782276:G:C,NC_000022.11:50782276:G:T
                                    Gene:
                                    RABL2B (Varview), RPL23AP82 (Varview)
                                    Functional Consequence:
                                    intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    A=0.000006/1 (GnomAD_exomes)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000022.11:g.50782277G>A, NC_000022.11:g.50782277G>C, NC_000022.11:g.50782277G>T, NC_000022.10:g.51220705G>A, NC_000022.10:g.51220705G>C, NC_000022.10:g.51220705G>T, NW_004070876.1:g.17352G>A, NW_004070876.1:g.17352G>C, NW_004070876.1:g.17352G>T, NM_007081.4:c.18C>T, NM_007081.4:c.18C>G, NM_007081.4:c.18C>A, NM_007081.3:c.18C>T, NM_007081.3:c.18C>G, NM_007081.3:c.18C>A, NM_007081.2:c.18C>T, NM_007081.2:c.18C>G, NM_007081.2:c.18C>A, NM_001130921.3:c.18C>T, NM_001130921.3:c.18C>G, NM_001130921.3:c.18C>A, NM_001130921.2:c.18C>T, NM_001130921.2:c.18C>G, NM_001130921.2:c.18C>A, NM_001130921.1:c.18C>T, NM_001130921.1:c.18C>G, NM_001130921.1:c.18C>A, NM_001130923.3:c.18C>T, NM_001130923.3:c.18C>G, NM_001130923.3:c.18C>A, NM_001130923.2:c.18C>T, NM_001130923.2:c.18C>G, NM_001130923.2:c.18C>A, NM_001130923.1:c.18C>T, NM_001130923.1:c.18C>G, NM_001130923.1:c.18C>A, NM_001130920.3:c.18C>T, NM_001130920.3:c.18C>G, NM_001130920.3:c.18C>A, NM_001130920.2:c.18C>T, NM_001130920.2:c.18C>G, NM_001130920.2:c.18C>A, NM_001130920.1:c.18C>T, NM_001130920.1:c.18C>G, NM_001130920.1:c.18C>A, NM_001003789.3:c.18C>T, NM_001003789.3:c.18C>G, NM_001003789.3:c.18C>A, NM_001003789.2:c.18C>T, NM_001003789.2:c.18C>G, NM_001003789.2:c.18C>A, NM_001003789.1:c.18C>T, NM_001003789.1:c.18C>G, NM_001003789.1:c.18C>A, NM_001130922.3:c.18C>T, NM_001130922.3:c.18C>G, NM_001130922.3:c.18C>A, NM_001130922.2:c.18C>T, NM_001130922.2:c.18C>G, NM_001130922.2:c.18C>A, NM_001130922.1:c.18C>T, NM_001130922.1:c.18C>G, NM_001130922.1:c.18C>A, NM_001130919.3:c.18C>T, NM_001130919.3:c.18C>G, NM_001130919.3:c.18C>A, NM_001130919.2:c.18C>T, NM_001130919.2:c.18C>G, NM_001130919.2:c.18C>A, NM_001130919.1:c.18C>T, NM_001130919.1:c.18C>G, NM_001130919.1:c.18C>A, XM_017028543.2:c.18C>T, XM_017028543.2:c.18C>G, XM_017028543.2:c.18C>A, XM_017028543.1:c.18C>T, XM_017028543.1:c.18C>G, XM_017028543.1:c.18C>A, XM_017028547.2:c.18C>T, XM_017028547.2:c.18C>G, XM_017028547.2:c.18C>A, XM_017028547.1:c.18C>T, XM_017028547.1:c.18C>G, XM_017028547.1:c.18C>A, XM_017028552.2:c.18C>T, XM_017028552.2:c.18C>G, XM_017028552.2:c.18C>A, XM_017028552.1:c.18C>T, XM_017028552.1:c.18C>G, XM_017028552.1:c.18C>A, XM_017028556.2:c.18C>T, XM_017028556.2:c.18C>G, XM_017028556.2:c.18C>A, XM_017028556.1:c.18C>T, XM_017028556.1:c.18C>G, XM_017028556.1:c.18C>A, XM_017028544.2:c.18C>T, XM_017028544.2:c.18C>G, XM_017028544.2:c.18C>A, XM_017028544.1:c.18C>T, XM_017028544.1:c.18C>G, XM_017028544.1:c.18C>A, NM_001350004.2:c.18C>T, NM_001350004.2:c.18C>G, NM_001350004.2:c.18C>A, NM_001350004.1:c.18C>T, NM_001350004.1:c.18C>G, NM_001350004.1:c.18C>A, NM_001350009.2:c.18C>T, NM_001350009.2:c.18C>G, NM_001350009.2:c.18C>A, NM_001350009.1:c.18C>T, NM_001350009.1:c.18C>G, NM_001350009.1:c.18C>A, NM_001350014.2:c.18C>T, NM_001350014.2:c.18C>G, NM_001350014.2:c.18C>A, NM_001350014.1:c.18C>T, NM_001350014.1:c.18C>G, NM_001350014.1:c.18C>A, XM_017028546.2:c.18C>T, XM_017028546.2:c.18C>G, XM_017028546.2:c.18C>A, XM_017028546.1:c.18C>T, XM_017028546.1:c.18C>G, XM_017028546.1:c.18C>A, NM_001350012.2:c.18C>T, NM_001350012.2:c.18C>G, NM_001350012.2:c.18C>A, NM_001350012.1:c.18C>T, NM_001350012.1:c.18C>G, NM_001350012.1:c.18C>A, NM_001350013.2:c.18C>T, NM_001350013.2:c.18C>G, NM_001350013.2:c.18C>A, NM_001350013.1:c.18C>T, NM_001350013.1:c.18C>G, NM_001350013.1:c.18C>A, NM_001350017.2:c.18C>T, NM_001350017.2:c.18C>G, NM_001350017.2:c.18C>A, NM_001350017.1:c.18C>T, NM_001350017.1:c.18C>G, NM_001350017.1:c.18C>A, NM_001350007.2:c.18C>T, NM_001350007.2:c.18C>G, NM_001350007.2:c.18C>A, NM_001350007.1:c.18C>T, NM_001350007.1:c.18C>G, NM_001350007.1:c.18C>A, NM_001350003.2:c.18C>T, NM_001350003.2:c.18C>G, NM_001350003.2:c.18C>A, NM_001350003.1:c.18C>T, NM_001350003.1:c.18C>G, NM_001350003.1:c.18C>A, NM_001350005.2:c.18C>T, NM_001350005.2:c.18C>G, NM_001350005.2:c.18C>A, NM_001350005.1:c.18C>T, NM_001350005.1:c.18C>G, NM_001350005.1:c.18C>A, NM_001350008.2:c.18C>T, NM_001350008.2:c.18C>G, NM_001350008.2:c.18C>A, NM_001350008.1:c.18C>T, NM_001350008.1:c.18C>G, NM_001350008.1:c.18C>A, NM_001350016.2:c.18C>T, NM_001350016.2:c.18C>G, NM_001350016.2:c.18C>A, NM_001350016.1:c.18C>T, NM_001350016.1:c.18C>G, NM_001350016.1:c.18C>A, NM_001350006.2:c.18C>T, NM_001350006.2:c.18C>G, NM_001350006.2:c.18C>A, NM_001350006.1:c.18C>T, NM_001350006.1:c.18C>G, NM_001350006.1:c.18C>A, XM_017028551.2:c.18C>T, XM_017028551.2:c.18C>G, XM_017028551.2:c.18C>A, XM_017028551.1:c.18C>T, XM_017028551.1:c.18C>G, XM_017028551.1:c.18C>A, NM_001350011.2:c.18C>T, NM_001350011.2:c.18C>G, NM_001350011.2:c.18C>A, NM_001350011.1:c.18C>T, NM_001350011.1:c.18C>G, NM_001350011.1:c.18C>A, NM_001350010.2:c.18C>T, NM_001350010.2:c.18C>G, NM_001350010.2:c.18C>A, NM_001350010.1:c.18C>T, NM_001350010.1:c.18C>G, NM_001350010.1:c.18C>A, NM_001350015.2:c.18C>T, NM_001350015.2:c.18C>G, NM_001350015.2:c.18C>A, NM_001350015.1:c.18C>T, NM_001350015.1:c.18C>G, NM_001350015.1:c.18C>A, XM_047441085.1:c.18C>T, XM_047441085.1:c.18C>G, XM_047441085.1:c.18C>A, XM_047441088.1:c.18C>T, XM_047441088.1:c.18C>G, XM_047441088.1:c.18C>A, XM_047441090.1:c.18C>T, XM_047441090.1:c.18C>G, XM_047441090.1:c.18C>A, XM_047441095.1:c.18C>T, XM_047441095.1:c.18C>G, XM_047441095.1:c.18C>A, XM_047441098.1:c.18C>T, XM_047441098.1:c.18C>G, XM_047441098.1:c.18C>A, XM_047441091.1:c.18C>T, XM_047441091.1:c.18C>G, XM_047441091.1:c.18C>A, XM_047441099.1:c.18C>T, XM_047441099.1:c.18C>G, XM_047441099.1:c.18C>A, XM_047441096.1:c.18C>T, XM_047441096.1:c.18C>G, XM_047441096.1:c.18C>A, XM_047441093.1:c.18C>T, XM_047441093.1:c.18C>G, XM_047441093.1:c.18C>A, XM_047441094.1:c.18C>T, XM_047441094.1:c.18C>G, XM_047441094.1:c.18C>A, NM_001394054.1:c.18C>T, NM_001394054.1:c.18C>G, NM_001394054.1:c.18C>A, XM_047441086.1:c.18C>T, XM_047441086.1:c.18C>G, XM_047441086.1:c.18C>A, NM_001394055.1:c.18C>T, NM_001394055.1:c.18C>G, NM_001394055.1:c.18C>A, XM_047441100.1:c.18C>T, XM_047441100.1:c.18C>G, XM_047441100.1:c.18C>A, XM_047441087.1:c.18C>T, XM_047441087.1:c.18C>G, XM_047441087.1:c.18C>A, XM_047441097.1:c.18C>T, XM_047441097.1:c.18C>G, XM_047441097.1:c.18C>A, XM_047441089.1:c.18C>T, XM_047441089.1:c.18C>G, XM_047441089.1:c.18C>A, XM_047441092.1:c.18C>T, XM_047441092.1:c.18C>G, XM_047441092.1:c.18C>A, XM_047441101.1:c.18C>T, XM_047441101.1:c.18C>G, XM_047441101.1:c.18C>A, XM_047441103.1:c.18C>T, XM_047441103.1:c.18C>G, XM_047441103.1:c.18C>A, XM_047441102.1:c.18C>T, XM_047441102.1:c.18C>G, XM_047441102.1:c.18C>A

                                    18.

                                    rs1383498372 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      22:50769533 (GRCh38)
                                      22:51207961 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:50769532:T:G
                                      Gene:
                                      RABL2B (Varview), RPL23AP82 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000008/2 (GnomAD_exomes)
                                      G=0.000014/2 (GnomAD)
                                      G=0.000023/6 (TOPMED)
                                      HGVS:
                                      NC_000022.11:g.50769533T>G, NC_000022.10:g.51207961T>G, NW_004070876.1:g.4608T>G, NM_007081.4:c.426A>C, NM_007081.3:c.426A>C, NM_007081.2:c.426A>C, NM_001130921.3:c.429A>C, NM_001130921.2:c.429A>C, NM_001130921.1:c.429A>C, NM_001130923.3:c.426A>C, NM_001130923.2:c.426A>C, NM_001130923.1:c.426A>C, NM_001130920.3:c.429A>C, NM_001130920.2:c.429A>C, NM_001130920.1:c.429A>C, NM_001003789.3:c.429A>C, NM_001003789.2:c.429A>C, NM_001003789.1:c.429A>C, NM_001130922.3:c.426A>C, NM_001130922.2:c.426A>C, NM_001130922.1:c.426A>C, NM_001130919.3:c.429A>C, NM_001130919.2:c.429A>C, NM_001130919.1:c.429A>C, XM_017028543.2:c.429A>C, XM_017028543.1:c.429A>C, XM_017028547.2:c.426A>C, XM_017028547.1:c.426A>C, XM_017028552.2:c.429A>C, XM_017028552.1:c.429A>C, XM_017028556.2:c.426A>C, XM_017028556.1:c.426A>C, XM_017028544.2:c.429A>C, XM_017028544.1:c.429A>C, NM_001350004.2:c.429A>C, NM_001350004.1:c.429A>C, NM_001350009.2:c.429A>C, NM_001350009.1:c.429A>C, NM_001350014.2:c.426A>C, NM_001350014.1:c.426A>C, XM_017028546.2:c.429A>C, XM_017028546.1:c.429A>C, NM_001350012.2:c.429A>C, NM_001350012.1:c.429A>C, NM_001350013.2:c.426A>C, NM_001350013.1:c.426A>C, NM_001350017.2:c.429A>C, NM_001350017.1:c.429A>C, NM_001350007.2:c.426A>C, NM_001350007.1:c.426A>C, NM_001350003.2:c.429A>C, NM_001350003.1:c.429A>C, NM_001350005.2:c.426A>C, NM_001350005.1:c.426A>C, NM_001350008.2:c.429A>C, NM_001350008.1:c.429A>C, NM_001350016.2:c.429A>C, NM_001350016.1:c.429A>C, NM_001350006.2:c.426A>C, NM_001350006.1:c.426A>C, XM_017028551.2:c.426A>C, XM_017028551.1:c.426A>C, NM_001350011.2:c.429A>C, NM_001350011.1:c.429A>C, NM_001350010.2:c.429A>C, NM_001350010.1:c.429A>C, NM_001350015.2:c.426A>C, NM_001350015.1:c.426A>C, XM_047441085.1:c.429A>C, XM_047441088.1:c.426A>C, XM_047441090.1:c.429A>C, XM_047441095.1:c.429A>C, XM_047441098.1:c.426A>C, XM_047441091.1:c.429A>C, XM_047441099.1:c.426A>C, XM_047441096.1:c.429A>C, XM_047441093.1:c.429A>C, XM_047441094.1:c.426A>C, NM_001394054.1:c.429A>C, XM_047441086.1:c.429A>C, NM_001394055.1:c.429A>C, XM_047441100.1:c.426A>C, XM_047441087.1:c.429A>C, XM_047441097.1:c.429A>C, XM_047441089.1:c.426A>C, XM_047441092.1:c.429A>C, XM_047441101.1:c.426A>C, XM_047441103.1:c.*343A>C, XM_047441102.1:c.*343A>C, NP_009012.1:p.Gln142His, NP_001124393.1:p.Gln143His, NP_001124395.1:p.Gln142His, NP_001124392.1:p.Gln143His, NP_001003789.1:p.Gln143His, NP_001124394.1:p.Gln142His, NP_001124391.1:p.Gln143His, XP_016884032.1:p.Gln143His, XP_016884036.1:p.Gln142His, XP_016884041.1:p.Gln143His, XP_016884045.1:p.Gln142His, XP_016884033.1:p.Gln143His, NP_001336933.1:p.Gln143His, NP_001336938.1:p.Gln143His, NP_001336943.1:p.Gln142His, XP_016884035.1:p.Gln143His, NP_001336941.1:p.Gln143His, NP_001336942.1:p.Gln142His, NP_001336946.1:p.Gln143His, NP_001336936.1:p.Gln142His, NP_001336932.1:p.Gln143His, NP_001336934.1:p.Gln142His, NP_001336937.1:p.Gln143His, NP_001336945.1:p.Gln143His, NP_001336935.1:p.Gln142His, XP_016884040.1:p.Gln142His, NP_001336940.1:p.Gln143His, NP_001336939.1:p.Gln143His, NP_001336944.1:p.Gln142His, XP_047297041.1:p.Gln143His, XP_047297044.1:p.Gln142His, XP_047297046.1:p.Gln143His, XP_047297051.1:p.Gln143His, XP_047297054.1:p.Gln142His, XP_047297047.1:p.Gln143His, XP_047297055.1:p.Gln142His, XP_047297052.1:p.Gln143His, XP_047297049.1:p.Gln143His, XP_047297050.1:p.Gln142His, NP_001380983.1:p.Gln143His, XP_047297042.1:p.Gln143His, NP_001380984.1:p.Gln143His, XP_047297056.1:p.Gln142His, XP_047297043.1:p.Gln143His, XP_047297053.1:p.Gln143His, XP_047297045.1:p.Gln142His, XP_047297048.1:p.Gln143His, XP_047297057.1:p.Gln142His

                                      19.

                                      rs1367933781 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        22:50769432 (GRCh38)
                                        22:51207860 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:50769431:G:A,NC_000022.11:50769431:G:T
                                        Gene:
                                        RABL2B (Varview), RPL23AP82 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000004/1 (GnomAD_exomes)
                                        T=0.000011/3 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000022.11:g.50769432G>A, NC_000022.11:g.50769432G>T, NC_000022.10:g.51207860G>A, NC_000022.10:g.51207860G>T, NW_004070876.1:g.4507G>A, NW_004070876.1:g.4507G>T, NM_001130923.3:c.527C>T, NM_001130923.3:c.527C>A, NM_001130923.2:c.527C>T, NM_001130923.2:c.527C>A, NM_001130923.1:c.527C>T, NM_001130923.1:c.527C>A, XM_017028543.2:c.530C>T, XM_017028543.2:c.530C>A, XM_017028543.1:c.530C>T, XM_017028543.1:c.530C>A, XM_017028547.2:c.527C>T, XM_017028547.2:c.527C>A, XM_017028547.1:c.527C>T, XM_017028547.1:c.527C>A, XM_017028544.2:c.530C>T, XM_017028544.2:c.530C>A, XM_017028544.1:c.530C>T, XM_017028544.1:c.530C>A, NM_001350009.2:c.530C>T, NM_001350009.2:c.530C>A, NM_001350009.1:c.530C>T, NM_001350009.1:c.530C>A, NM_001350014.2:c.527C>T, NM_001350014.2:c.527C>A, NM_001350014.1:c.527C>T, NM_001350014.1:c.527C>A, XM_017028546.2:c.530C>T, XM_017028546.2:c.530C>A, XM_017028546.1:c.530C>T, XM_017028546.1:c.530C>A, NM_001350012.2:c.530C>T, NM_001350012.2:c.530C>A, NM_001350012.1:c.530C>T, NM_001350012.1:c.530C>A, NM_001350013.2:c.527C>T, NM_001350013.2:c.527C>A, NM_001350013.1:c.527C>T, NM_001350013.1:c.527C>A, NM_001350008.2:c.530C>T, NM_001350008.2:c.530C>A, NM_001350008.1:c.530C>T, NM_001350008.1:c.530C>A, NM_001350011.2:c.530C>T, NM_001350011.2:c.530C>A, NM_001350011.1:c.530C>T, NM_001350011.1:c.530C>A, NM_001350010.2:c.530C>T, NM_001350010.2:c.530C>A, NM_001350010.1:c.530C>T, NM_001350010.1:c.530C>A, NM_001350015.2:c.527C>T, NM_001350015.2:c.527C>A, NM_001350015.1:c.527C>T, NM_001350015.1:c.527C>A, XM_047441085.1:c.530C>T, XM_047441085.1:c.530C>A, XM_047441088.1:c.527C>T, XM_047441088.1:c.527C>A, XM_047441086.1:c.530C>T, XM_047441086.1:c.530C>A, XM_047441087.1:c.530C>T, XM_047441087.1:c.530C>A, XM_047441089.1:c.527C>T, XM_047441089.1:c.527C>A, NP_001124395.1:p.Ala176Val, NP_001124395.1:p.Ala176Asp, XP_016884032.1:p.Ala177Val, XP_016884032.1:p.Ala177Asp, XP_016884036.1:p.Ala176Val, XP_016884036.1:p.Ala176Asp, XP_016884033.1:p.Ala177Val, XP_016884033.1:p.Ala177Asp, NP_001336938.1:p.Ala177Val, NP_001336938.1:p.Ala177Asp, NP_001336943.1:p.Ala176Val, NP_001336943.1:p.Ala176Asp, XP_016884035.1:p.Ala177Val, XP_016884035.1:p.Ala177Asp, NP_001336941.1:p.Ala177Val, NP_001336941.1:p.Ala177Asp, NP_001336942.1:p.Ala176Val, NP_001336942.1:p.Ala176Asp, NP_001336937.1:p.Ala177Val, NP_001336937.1:p.Ala177Asp, NP_001336940.1:p.Ala177Val, NP_001336940.1:p.Ala177Asp, NP_001336939.1:p.Ala177Val, NP_001336939.1:p.Ala177Asp, NP_001336944.1:p.Ala176Val, NP_001336944.1:p.Ala176Asp, XP_047297041.1:p.Ala177Val, XP_047297041.1:p.Ala177Asp, XP_047297044.1:p.Ala176Val, XP_047297044.1:p.Ala176Asp, XP_047297042.1:p.Ala177Val, XP_047297042.1:p.Ala177Asp, XP_047297043.1:p.Ala177Val, XP_047297043.1:p.Ala177Asp, XP_047297045.1:p.Ala176Val, XP_047297045.1:p.Ala176Asp

                                        20.

                                        rs1366837436 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          22:50775800 (GRCh38)
                                          22:51214228 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:50775799:T:C,NC_000022.11:50775799:T:G
                                          Gene:
                                          RABL2B (Varview), RPL23AP82 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_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_000022.11:g.50775800T>C, NC_000022.11:g.50775800T>G, NC_000022.10:g.51214228T>C, NC_000022.10:g.51214228T>G, NW_004070876.1:g.10875T>C, NW_004070876.1:g.10875T>G, NM_007081.4:c.269A>G, NM_007081.4:c.269A>C, NM_007081.3:c.269A>G, NM_007081.3:c.269A>C, NM_007081.2:c.269A>G, NM_007081.2:c.269A>C, NM_001130921.3:c.269A>G, NM_001130921.3:c.269A>C, NM_001130921.2:c.269A>G, NM_001130921.2:c.269A>C, NM_001130921.1:c.269A>G, NM_001130921.1:c.269A>C, NM_001130923.3:c.269A>G, NM_001130923.3:c.269A>C, NM_001130923.2:c.269A>G, NM_001130923.2:c.269A>C, NM_001130923.1:c.269A>G, NM_001130923.1:c.269A>C, NM_001130920.3:c.269A>G, NM_001130920.3:c.269A>C, NM_001130920.2:c.269A>G, NM_001130920.2:c.269A>C, NM_001130920.1:c.269A>G, NM_001130920.1:c.269A>C, NM_001003789.3:c.269A>G, NM_001003789.3:c.269A>C, NM_001003789.2:c.269A>G, NM_001003789.2:c.269A>C, NM_001003789.1:c.269A>G, NM_001003789.1:c.269A>C, NM_001130922.3:c.269A>G, NM_001130922.3:c.269A>C, NM_001130922.2:c.269A>G, NM_001130922.2:c.269A>C, NM_001130922.1:c.269A>G, NM_001130922.1:c.269A>C, NM_001130919.3:c.269A>G, NM_001130919.3:c.269A>C, NM_001130919.2:c.269A>G, NM_001130919.2:c.269A>C, NM_001130919.1:c.269A>G, NM_001130919.1:c.269A>C, XM_017028543.2:c.269A>G, XM_017028543.2:c.269A>C, XM_017028543.1:c.269A>G, XM_017028543.1:c.269A>C, XM_017028547.2:c.269A>G, XM_017028547.2:c.269A>C, XM_017028547.1:c.269A>G, XM_017028547.1:c.269A>C, XM_017028552.2:c.269A>G, XM_017028552.2:c.269A>C, XM_017028552.1:c.269A>G, XM_017028552.1:c.269A>C, XM_017028556.2:c.269A>G, XM_017028556.2:c.269A>C, XM_017028556.1:c.269A>G, XM_017028556.1:c.269A>C, XM_017028544.2:c.269A>G, XM_017028544.2:c.269A>C, XM_017028544.1:c.269A>G, XM_017028544.1:c.269A>C, NM_001350004.2:c.269A>G, NM_001350004.2:c.269A>C, NM_001350004.1:c.269A>G, NM_001350004.1:c.269A>C, NM_001350009.2:c.269A>G, NM_001350009.2:c.269A>C, NM_001350009.1:c.269A>G, NM_001350009.1:c.269A>C, NM_001350014.2:c.269A>G, NM_001350014.2:c.269A>C, NM_001350014.1:c.269A>G, NM_001350014.1:c.269A>C, XM_017028546.2:c.269A>G, XM_017028546.2:c.269A>C, XM_017028546.1:c.269A>G, XM_017028546.1:c.269A>C, NM_001350012.2:c.269A>G, NM_001350012.2:c.269A>C, NM_001350012.1:c.269A>G, NM_001350012.1:c.269A>C, NM_001350013.2:c.269A>G, NM_001350013.2:c.269A>C, NM_001350013.1:c.269A>G, NM_001350013.1:c.269A>C, NM_001350017.2:c.269A>G, NM_001350017.2:c.269A>C, NM_001350017.1:c.269A>G, NM_001350017.1:c.269A>C, NM_001350007.2:c.269A>G, NM_001350007.2:c.269A>C, NM_001350007.1:c.269A>G, NM_001350007.1:c.269A>C, NM_001350003.2:c.269A>G, NM_001350003.2:c.269A>C, NM_001350003.1:c.269A>G, NM_001350003.1:c.269A>C, NM_001350005.2:c.269A>G, NM_001350005.2:c.269A>C, NM_001350005.1:c.269A>G, NM_001350005.1:c.269A>C, NM_001350008.2:c.269A>G, NM_001350008.2:c.269A>C, NM_001350008.1:c.269A>G, NM_001350008.1:c.269A>C, NM_001350016.2:c.269A>G, NM_001350016.2:c.269A>C, NM_001350016.1:c.269A>G, NM_001350016.1:c.269A>C, NM_001350006.2:c.269A>G, NM_001350006.2:c.269A>C, NM_001350006.1:c.269A>G, NM_001350006.1:c.269A>C, XM_017028551.2:c.269A>G, XM_017028551.2:c.269A>C, XM_017028551.1:c.269A>G, XM_017028551.1:c.269A>C, NM_001350011.2:c.269A>G, NM_001350011.2:c.269A>C, NM_001350011.1:c.269A>G, NM_001350011.1:c.269A>C, NM_001350010.2:c.269A>G, NM_001350010.2:c.269A>C, NM_001350010.1:c.269A>G, NM_001350010.1:c.269A>C, NM_001350015.2:c.269A>G, NM_001350015.2:c.269A>C, NM_001350015.1:c.269A>G, NM_001350015.1:c.269A>C, XM_047441085.1:c.269A>G, XM_047441085.1:c.269A>C, XM_047441088.1:c.269A>G, XM_047441088.1:c.269A>C, XM_047441090.1:c.269A>G, XM_047441090.1:c.269A>C, XM_047441095.1:c.269A>G, XM_047441095.1:c.269A>C, XM_047441098.1:c.269A>G, XM_047441098.1:c.269A>C, XM_047441091.1:c.269A>G, XM_047441091.1:c.269A>C, XM_047441099.1:c.269A>G, XM_047441099.1:c.269A>C, XM_047441096.1:c.269A>G, XM_047441096.1:c.269A>C, XM_047441093.1:c.269A>G, XM_047441093.1:c.269A>C, XM_047441094.1:c.269A>G, XM_047441094.1:c.269A>C, NM_001394054.1:c.269A>G, NM_001394054.1:c.269A>C, XM_047441086.1:c.269A>G, XM_047441086.1:c.269A>C, NM_001394055.1:c.269A>G, NM_001394055.1:c.269A>C, XM_047441100.1:c.269A>G, XM_047441100.1:c.269A>C, XM_047441087.1:c.269A>G, XM_047441087.1:c.269A>C, XM_047441097.1:c.269A>G, XM_047441097.1:c.269A>C, XM_047441089.1:c.269A>G, XM_047441089.1:c.269A>C, XM_047441092.1:c.269A>G, XM_047441092.1:c.269A>C, XM_047441101.1:c.269A>G, XM_047441101.1:c.269A>C, XM_047441103.1:c.269A>G, XM_047441103.1:c.269A>C, XM_047441102.1:c.269A>G, XM_047441102.1:c.269A>C, NP_009012.1:p.Tyr90Cys, NP_009012.1:p.Tyr90Ser, NP_001124393.1:p.Tyr90Cys, NP_001124393.1:p.Tyr90Ser, NP_001124395.1:p.Tyr90Cys, NP_001124395.1:p.Tyr90Ser, NP_001124392.1:p.Tyr90Cys, NP_001124392.1:p.Tyr90Ser, NP_001003789.1:p.Tyr90Cys, NP_001003789.1:p.Tyr90Ser, NP_001124394.1:p.Tyr90Cys, NP_001124394.1:p.Tyr90Ser, NP_001124391.1:p.Tyr90Cys, NP_001124391.1:p.Tyr90Ser, XP_016884032.1:p.Tyr90Cys, XP_016884032.1:p.Tyr90Ser, XP_016884036.1:p.Tyr90Cys, XP_016884036.1:p.Tyr90Ser, XP_016884041.1:p.Tyr90Cys, XP_016884041.1:p.Tyr90Ser, XP_016884045.1:p.Tyr90Cys, XP_016884045.1:p.Tyr90Ser, XP_016884033.1:p.Tyr90Cys, XP_016884033.1:p.Tyr90Ser, NP_001336933.1:p.Tyr90Cys, NP_001336933.1:p.Tyr90Ser, NP_001336938.1:p.Tyr90Cys, NP_001336938.1:p.Tyr90Ser, NP_001336943.1:p.Tyr90Cys, NP_001336943.1:p.Tyr90Ser, XP_016884035.1:p.Tyr90Cys, XP_016884035.1:p.Tyr90Ser, NP_001336941.1:p.Tyr90Cys, NP_001336941.1:p.Tyr90Ser, NP_001336942.1:p.Tyr90Cys, NP_001336942.1:p.Tyr90Ser, NP_001336946.1:p.Tyr90Cys, NP_001336946.1:p.Tyr90Ser, NP_001336936.1:p.Tyr90Cys, NP_001336936.1:p.Tyr90Ser, NP_001336932.1:p.Tyr90Cys, NP_001336932.1:p.Tyr90Ser, NP_001336934.1:p.Tyr90Cys, NP_001336934.1:p.Tyr90Ser, NP_001336937.1:p.Tyr90Cys, NP_001336937.1:p.Tyr90Ser, NP_001336945.1:p.Tyr90Cys, NP_001336945.1:p.Tyr90Ser, NP_001336935.1:p.Tyr90Cys, NP_001336935.1:p.Tyr90Ser, XP_016884040.1:p.Tyr90Cys, XP_016884040.1:p.Tyr90Ser, NP_001336940.1:p.Tyr90Cys, NP_001336940.1:p.Tyr90Ser, NP_001336939.1:p.Tyr90Cys, NP_001336939.1:p.Tyr90Ser, NP_001336944.1:p.Tyr90Cys, NP_001336944.1:p.Tyr90Ser, XP_047297041.1:p.Tyr90Cys, XP_047297041.1:p.Tyr90Ser, XP_047297044.1:p.Tyr90Cys, XP_047297044.1:p.Tyr90Ser, XP_047297046.1:p.Tyr90Cys, XP_047297046.1:p.Tyr90Ser, XP_047297051.1:p.Tyr90Cys, XP_047297051.1:p.Tyr90Ser, XP_047297054.1:p.Tyr90Cys, XP_047297054.1:p.Tyr90Ser, XP_047297047.1:p.Tyr90Cys, XP_047297047.1:p.Tyr90Ser, XP_047297055.1:p.Tyr90Cys, XP_047297055.1:p.Tyr90Ser, XP_047297052.1:p.Tyr90Cys, XP_047297052.1:p.Tyr90Ser, XP_047297049.1:p.Tyr90Cys, XP_047297049.1:p.Tyr90Ser, XP_047297050.1:p.Tyr90Cys, XP_047297050.1:p.Tyr90Ser, NP_001380983.1:p.Tyr90Cys, NP_001380983.1:p.Tyr90Ser, XP_047297042.1:p.Tyr90Cys, XP_047297042.1:p.Tyr90Ser, NP_001380984.1:p.Tyr90Cys, NP_001380984.1:p.Tyr90Ser, XP_047297056.1:p.Tyr90Cys, XP_047297056.1:p.Tyr90Ser, XP_047297043.1:p.Tyr90Cys, XP_047297043.1:p.Tyr90Ser, XP_047297053.1:p.Tyr90Cys, XP_047297053.1:p.Tyr90Ser, XP_047297045.1:p.Tyr90Cys, XP_047297045.1:p.Tyr90Ser, XP_047297048.1:p.Tyr90Cys, XP_047297048.1:p.Tyr90Ser, XP_047297057.1:p.Tyr90Cys, XP_047297057.1:p.Tyr90Ser, XP_047297059.1:p.Tyr90Cys, XP_047297059.1:p.Tyr90Ser, XP_047297058.1:p.Tyr90Cys, XP_047297058.1:p.Tyr90Ser

                                          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...