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Items: 1 to 20 of 819

1.

rs1490214323 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    14:39299886 (GRCh38)
    14:39769090 (GRCh37)
    Canonical SPDI:
    NC_000014.9:39299885:G:A
    Gene:
    MIA2 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    A=0.000008/2 (TOPMED)
    HGVS:
    NC_000014.9:g.39299886G>A, NC_000014.8:g.39769090G>A, NG_030349.3:g.70966G>A, NM_001329214.4:c.2519G>A, NM_001329214.3:c.2519G>A, NM_001329214.2:c.2519G>A, NM_001329214.1:c.2519G>A, NM_005930.4:c.695G>A, NM_005930.3:c.695G>A, NM_203354.3:c.659G>A, NM_203354.2:c.659G>A, NM_203355.3:c.695G>A, NM_203355.2:c.695G>A, NM_001354152.3:c.722G>A, NM_001354152.2:c.722G>A, NM_001354152.1:c.722G>A, NM_001354154.2:c.695G>A, NM_001354154.1:c.695G>A, NM_001354155.2:c.695G>A, NM_001354155.1:c.695G>A, NM_001354145.2:c.455G>A, NM_001354145.1:c.455G>A, NR_148722.2:n.770G>A, NR_148722.1:n.1031G>A, NM_001354151.2:c.722G>A, NM_001354151.1:c.722G>A, NM_001247989.2:c.710G>A, NM_001247989.1:c.710G>A, NM_001354137.2:c.608G>A, NM_001354137.1:c.608G>A, NM_001354140.2:c.455G>A, NM_001354140.1:c.455G>A, NR_148723.2:n.660G>A, NR_148723.1:n.921G>A, NM_001354150.2:c.677G>A, NM_001354150.1:c.677G>A, NM_001354157.2:c.617G>A, NM_001354157.1:c.617G>A, NM_001247990.2:c.470G>A, NM_001247990.1:c.470G>A, NM_001354141.2:c.455G>A, NM_001354141.1:c.455G>A, NM_203356.2:c.608G>A, NM_001354146.2:c.659G>A, NM_001354146.1:c.659G>A, NM_001354139.2:c.608G>A, NM_001354139.1:c.608G>A, NM_001354156.2:c.377G>A, NM_001354156.1:c.377G>A, NM_001354153.2:c.617G>A, NM_001354153.1:c.617G>A, NM_001354144.2:c.455G>A, NM_001354144.1:c.455G>A, NM_001354148.1:c.608G>A, NM_001354147.1:c.530G>A, NR_148721.1:n.862G>A, NM_001247988.1:c.608G>A, NM_001354138.1:c.608G>A, NM_001354149.1:c.530G>A, NM_001354142.1:c.455G>A, NM_001354143.1:c.455G>A, XM_017021317.3:c.650G>A, XM_017021317.2:c.650G>A, XM_017021317.1:c.650G>A, XM_011536778.3:c.686G>A, XM_011536778.2:c.686G>A, XM_011536778.1:c.686G>A, XM_017021315.3:c.719G>A, XM_017021315.2:c.719G>A, XM_017021315.1:c.719G>A, XM_017021324.3:c.497G>A, XM_017021324.2:c.497G>A, XM_017021324.1:c.497G>A, XM_024449592.2:c.2561G>A, XM_024449592.1:c.2561G>A, XM_024449593.2:c.2546G>A, XM_024449593.1:c.2546G>A, XM_024449594.2:c.2534G>A, XM_024449594.1:c.2534G>A, XM_024449595.2:c.2561G>A, XM_024449595.1:c.2561G>A, XM_024449596.2:c.2519G>A, XM_024449596.1:c.2519G>A, XM_024449597.2:c.2561G>A, XM_024449597.1:c.2561G>A, XM_017021314.2:c.737G>A, XM_017021314.1:c.737G>A, XM_017021316.2:c.701G>A, XM_017021316.1:c.701G>A, XM_017021330.2:c.650G>A, XM_017021330.1:c.650G>A, XM_024449598.2:c.497G>A, XM_024449598.1:c.497G>A, XM_017021318.2:c.650G>A, XM_017021318.1:c.650G>A, XM_017021319.2:c.650G>A, XM_017021319.1:c.650G>A, XM_017021323.2:c.497G>A, XM_017021323.1:c.497G>A, XM_047431399.1:c.2237G>A, XM_047431398.1:c.2534G>A, XM_047431401.1:c.2534G>A, NM_203357.1:c.470G>A, XM_047431403.1:c.674G>A, XM_047431405.1:c.635G>A, XM_047431406.1:c.623G>A, XM_047431407.1:c.710G>A, XM_047431409.1:c.674G>A, XM_047431410.1:c.497G>A, XM_047431411.1:c.608G>A, XM_047431408.1:c.677G>A, XM_047431402.1:c.2561G>A, XM_047431412.1:c.695G>A, NP_001316143.1:p.Trp840Ter, NP_005921.2:p.Trp232Ter, NP_976229.1:p.Trp220Ter, NP_976230.1:p.Trp232Ter, NP_001341081.1:p.Trp241Ter, NP_001341083.1:p.Trp232Ter, NP_001341084.1:p.Trp232Ter, NP_001341074.1:p.Trp152Ter, NP_001341080.1:p.Trp241Ter, NP_001234918.1:p.Trp237Ter, NP_001341066.1:p.Trp203Ter, NP_001341069.1:p.Trp152Ter, NP_001341079.1:p.Trp226Ter, NP_001341086.1:p.Trp206Ter, NP_001234919.1:p.Trp157Ter, NP_001341070.1:p.Trp152Ter, NP_976231.1:p.Trp203Ter, NP_001341075.1:p.Trp220Ter, NP_001341068.1:p.Trp203Ter, NP_001341085.1:p.Trp126Ter, NP_001341082.1:p.Trp206Ter, NP_001341073.1:p.Trp152Ter, NP_001341077.1:p.Trp203Ter, NP_001341076.1:p.Trp177Ter, NP_001234917.1:p.Trp203Ter, NP_001341067.1:p.Trp203Ter, NP_001341078.1:p.Trp177Ter, NP_001341071.1:p.Trp152Ter, NP_001341072.1:p.Trp152Ter, XP_016876806.1:p.Trp217Ter, XP_011535080.1:p.Trp229Ter, XP_016876804.1:p.Trp240Ter, XP_016876813.1:p.Trp166Ter, XP_024305360.1:p.Trp854Ter, XP_024305361.1:p.Trp849Ter, XP_024305362.1:p.Trp845Ter, XP_024305363.1:p.Trp854Ter, XP_024305364.1:p.Trp840Ter, XP_024305365.1:p.Trp854Ter, XP_016876803.1:p.Trp246Ter, XP_016876805.1:p.Trp234Ter, XP_016876819.1:p.Trp217Ter, XP_024305366.1:p.Trp166Ter, XP_016876807.1:p.Trp217Ter, XP_016876808.1:p.Trp217Ter, XP_016876812.1:p.Trp166Ter, XP_047287355.1:p.Trp746Ter, XP_047287354.1:p.Trp845Ter, XP_047287357.1:p.Trp845Ter, XP_047287359.1:p.Trp225Ter, XP_047287361.1:p.Trp212Ter, XP_047287362.1:p.Trp208Ter, XP_047287363.1:p.Trp237Ter, XP_047287365.1:p.Trp225Ter, XP_047287366.1:p.Trp166Ter, XP_047287367.1:p.Trp203Ter, XP_047287364.1:p.Trp226Ter, XP_047287358.1:p.Trp854Ter, XP_047287368.1:p.Trp232Ter

    2.

    rs1489619222 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:39294033 (GRCh38)
      14:39763237 (GRCh37)
      Canonical SPDI:
      NC_000014.9:39294032:G:A
      Gene:
      MIA2 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
      Validated:
      by frequency
      MAF:
      A=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000014.9:g.39294033G>A, NC_000014.8:g.39763237G>A, NG_030349.3:g.65113G>A, NM_001329214.4:c.2353G>A, NM_001329214.3:c.2353G>A, NM_001329214.2:c.2353G>A, NM_001329214.1:c.2353G>A, NM_005930.4:c.529G>A, NM_005930.3:c.529G>A, NM_203354.3:c.493G>A, NM_203354.2:c.493G>A, NM_203355.3:c.529G>A, NM_203355.2:c.529G>A, NM_001354152.3:c.556G>A, NM_001354152.2:c.556G>A, NM_001354152.1:c.556G>A, NM_001354154.2:c.529G>A, NM_001354154.1:c.529G>A, NM_001354155.2:c.529G>A, NM_001354155.1:c.529G>A, NM_001354145.2:c.289G>A, NM_001354145.1:c.289G>A, NR_148722.2:n.604G>A, NR_148722.1:n.865G>A, NM_001354151.2:c.556G>A, NM_001354151.1:c.556G>A, NM_001247989.2:c.544G>A, NM_001247989.1:c.544G>A, NM_001354137.2:c.442G>A, NM_001354137.1:c.442G>A, NM_001354140.2:c.289G>A, NM_001354140.1:c.289G>A, NR_148723.2:n.494G>A, NR_148723.1:n.755G>A, NM_001354150.2:c.511G>A, NM_001354150.1:c.511G>A, NM_001354157.2:c.451G>A, NM_001354157.1:c.451G>A, NM_001247990.2:c.304G>A, NM_001247990.1:c.304G>A, NM_001354141.2:c.289G>A, NM_001354141.1:c.289G>A, NM_203356.2:c.442G>A, NM_001354146.2:c.493G>A, NM_001354146.1:c.493G>A, NM_001354139.2:c.442G>A, NM_001354139.1:c.442G>A, NM_001354156.2:c.211G>A, NM_001354156.1:c.211G>A, NM_001354153.2:c.451G>A, NM_001354153.1:c.451G>A, NM_001354144.2:c.289G>A, NM_001354144.1:c.289G>A, NM_001354148.1:c.442G>A, NM_001354147.1:c.364G>A, NR_148721.1:n.696G>A, NM_001247988.1:c.442G>A, NM_001354138.1:c.442G>A, NM_001354149.1:c.364G>A, NM_001354142.1:c.289G>A, NM_001354143.1:c.289G>A, XM_017021317.3:c.484G>A, XM_017021317.2:c.484G>A, XM_017021317.1:c.484G>A, XM_011536778.3:c.520G>A, XM_011536778.2:c.520G>A, XM_011536778.1:c.520G>A, XM_017021315.3:c.553G>A, XM_017021315.2:c.553G>A, XM_017021315.1:c.553G>A, XM_017021324.3:c.331G>A, XM_017021324.2:c.331G>A, XM_017021324.1:c.331G>A, XM_024449592.2:c.2395G>A, XM_024449592.1:c.2395G>A, XM_024449593.2:c.2380G>A, XM_024449593.1:c.2380G>A, XM_024449594.2:c.2368G>A, XM_024449594.1:c.2368G>A, XM_024449595.2:c.2395G>A, XM_024449595.1:c.2395G>A, XM_024449596.2:c.2353G>A, XM_024449596.1:c.2353G>A, XM_024449597.2:c.2395G>A, XM_024449597.1:c.2395G>A, XM_017021314.2:c.571G>A, XM_017021314.1:c.571G>A, XM_017021316.2:c.535G>A, XM_017021316.1:c.535G>A, XM_017021330.2:c.484G>A, XM_017021330.1:c.484G>A, XM_024449598.2:c.331G>A, XM_024449598.1:c.331G>A, XM_017021318.2:c.484G>A, XM_017021318.1:c.484G>A, XM_017021319.2:c.484G>A, XM_017021319.1:c.484G>A, XM_017021323.2:c.331G>A, XM_017021323.1:c.331G>A, XM_047431399.1:c.2071G>A, XM_047431398.1:c.2368G>A, XM_047431401.1:c.2368G>A, NM_203357.1:c.304G>A, XM_047431403.1:c.508G>A, XM_047431405.1:c.469G>A, XM_047431406.1:c.457G>A, XM_047431407.1:c.544G>A, XM_047431409.1:c.508G>A, XM_047431410.1:c.331G>A, XM_047431411.1:c.442G>A, XM_047431408.1:c.511G>A, XM_047431402.1:c.2395G>A, XM_047431412.1:c.529G>A, NP_001316143.1:p.Glu785Lys, NP_005921.2:p.Glu177Lys, NP_976229.1:p.Glu165Lys, NP_976230.1:p.Glu177Lys, NP_001341081.1:p.Glu186Lys, NP_001341083.1:p.Glu177Lys, NP_001341084.1:p.Glu177Lys, NP_001341074.1:p.Glu97Lys, NP_001341080.1:p.Glu186Lys, NP_001234918.1:p.Glu182Lys, NP_001341066.1:p.Glu148Lys, NP_001341069.1:p.Glu97Lys, NP_001341079.1:p.Glu171Lys, NP_001341086.1:p.Glu151Lys, NP_001234919.1:p.Glu102Lys, NP_001341070.1:p.Glu97Lys, NP_976231.1:p.Glu148Lys, NP_001341075.1:p.Glu165Lys, NP_001341068.1:p.Glu148Lys, NP_001341085.1:p.Glu71Lys, NP_001341082.1:p.Glu151Lys, NP_001341073.1:p.Glu97Lys, NP_001341077.1:p.Glu148Lys, NP_001341076.1:p.Glu122Lys, NP_001234917.1:p.Glu148Lys, NP_001341067.1:p.Glu148Lys, NP_001341078.1:p.Glu122Lys, NP_001341071.1:p.Glu97Lys, NP_001341072.1:p.Glu97Lys, XP_016876806.1:p.Glu162Lys, XP_011535080.1:p.Glu174Lys, XP_016876804.1:p.Glu185Lys, XP_016876813.1:p.Glu111Lys, XP_024305360.1:p.Glu799Lys, XP_024305361.1:p.Glu794Lys, XP_024305362.1:p.Glu790Lys, XP_024305363.1:p.Glu799Lys, XP_024305364.1:p.Glu785Lys, XP_024305365.1:p.Glu799Lys, XP_016876803.1:p.Glu191Lys, XP_016876805.1:p.Glu179Lys, XP_016876819.1:p.Glu162Lys, XP_024305366.1:p.Glu111Lys, XP_016876807.1:p.Glu162Lys, XP_016876808.1:p.Glu162Lys, XP_016876812.1:p.Glu111Lys, XP_047287355.1:p.Glu691Lys, XP_047287354.1:p.Glu790Lys, XP_047287357.1:p.Glu790Lys, XP_047287359.1:p.Glu170Lys, XP_047287361.1:p.Glu157Lys, XP_047287362.1:p.Glu153Lys, XP_047287363.1:p.Glu182Lys, XP_047287365.1:p.Glu170Lys, XP_047287366.1:p.Glu111Lys, XP_047287367.1:p.Glu148Lys, XP_047287364.1:p.Glu171Lys, XP_047287358.1:p.Glu799Lys, XP_047287368.1:p.Glu177Lys

      3.

      rs1488714322 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        14:39348821 (GRCh38)
        14:39818025 (GRCh37)
        Canonical SPDI:
        NC_000014.9:39348820:C:G
        Gene:
        MIA2 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.39348821C>G, NC_000014.8:g.39818025C>G, NG_030349.3:g.119901C>G, NM_001329214.4:c.3916C>G, NM_001329214.3:c.3916C>G, NM_001329214.2:c.3916C>G, NM_001329214.1:c.3916C>G, NM_005930.4:c.2092C>G, NM_005930.3:c.2092C>G, NM_203354.3:c.2056C>G, NM_203354.2:c.2056C>G, NM_203355.3:c.1963C>G, NM_203355.2:c.1963C>G, NM_001354152.3:c.1990C>G, NM_001354152.2:c.1990C>G, NM_001354152.1:c.1990C>G, NM_001354154.2:c.2092C>G, NM_001354154.1:c.2092C>G, NM_001354155.2:c.1963C>G, NM_001354155.1:c.1963C>G, NM_001354145.2:c.1723C>G, NM_001354145.1:c.1723C>G, NR_148722.2:n.2203C>G, NR_148722.1:n.2464C>G, NM_001354151.2:c.2119C>G, NM_001354151.1:c.2119C>G, NM_001247989.2:c.2107C>G, NM_001247989.1:c.2107C>G, NM_001354137.2:c.2005C>G, NM_001354137.1:c.2005C>G, NM_001354140.2:c.1852C>G, NM_001354140.1:c.1852C>G, NR_148723.2:n.2093C>G, NR_148723.1:n.2354C>G, NM_001354150.2:c.2074C>G, NM_001354150.1:c.2074C>G, NM_001354157.2:c.2014C>G, NM_001354157.1:c.2014C>G, NM_001247990.2:c.1867C>G, NM_001247990.1:c.1867C>G, NM_001354141.2:c.1852C>G, NM_001354141.1:c.1852C>G, NM_203356.2:c.2005C>G, NM_001354146.2:c.1927C>G, NM_001354146.1:c.1927C>G, NM_001354139.2:c.1876C>G, NM_001354139.1:c.1876C>G, NM_001354156.2:c.1774C>G, NM_001354156.1:c.1774C>G, NM_001354153.2:c.1885C>G, NM_001354153.1:c.1885C>G, NM_001354144.2:c.1723C>G, NM_001354144.1:c.1723C>G, NM_001354148.1:c.2005C>G, NM_001354147.1:c.1927C>G, NR_148721.1:n.2166C>G, NM_001247988.1:c.1876C>G, NM_001354138.1:c.2005C>G, NM_001354149.1:c.1798C>G, NM_001354142.1:c.1723C>G, NM_001354143.1:c.1723C>G, XM_017021317.3:c.2047C>G, XM_017021317.2:c.2047C>G, XM_017021317.1:c.2047C>G, XM_011536778.3:c.2083C>G, XM_011536778.2:c.2083C>G, XM_011536778.1:c.2083C>G, XM_017021315.3:c.2116C>G, XM_017021315.2:c.2116C>G, XM_017021315.1:c.2116C>G, XM_017021324.3:c.1894C>G, XM_017021324.2:c.1894C>G, XM_017021324.1:c.1894C>G, XM_024449592.2:c.3958C>G, XM_024449592.1:c.3958C>G, XM_024449593.2:c.3943C>G, XM_024449593.1:c.3943C>G, XM_024449594.2:c.3931C>G, XM_024449594.1:c.3931C>G, XM_024449595.2:c.3829C>G, XM_024449595.1:c.3829C>G, XM_024449596.2:c.3787C>G, XM_024449596.1:c.3787C>G, XM_017021314.2:c.2134C>G, XM_017021314.1:c.2134C>G, XM_017021316.2:c.2098C>G, XM_017021316.1:c.2098C>G, XM_017021330.2:c.2047C>G, XM_017021330.1:c.2047C>G, XM_024449598.2:c.1894C>G, XM_024449598.1:c.1894C>G, XM_017021318.2:c.2047C>G, XM_017021318.1:c.2047C>G, XM_017021319.2:c.2047C>G, XM_017021319.1:c.2047C>G, XM_017021323.2:c.1894C>G, XM_017021323.1:c.1894C>G, XM_047431399.1:c.3634C>G, XM_047431398.1:c.3802C>G, NM_203357.1:c.1867C>G, XM_047431403.1:c.2071C>G, XM_047431405.1:c.2032C>G, XM_047431406.1:c.2020C>G, XM_047431407.1:c.1978C>G, XM_047431409.1:c.1942C>G, XM_047431410.1:c.1894C>G, XM_047431411.1:c.1876C>G, XM_047431408.1:c.1945C>G, NP_001316143.1:p.Pro1306Ala, NP_005921.2:p.Pro698Ala, NP_976229.1:p.Pro686Ala, NP_976230.1:p.Pro655Ala, NP_001341081.1:p.Pro664Ala, NP_001341083.1:p.Pro698Ala, NP_001341084.1:p.Pro655Ala, NP_001341074.1:p.Pro575Ala, NP_001341080.1:p.Pro707Ala, NP_001234918.1:p.Pro703Ala, NP_001341066.1:p.Pro669Ala, NP_001341069.1:p.Pro618Ala, NP_001341079.1:p.Pro692Ala, NP_001341086.1:p.Pro672Ala, NP_001234919.1:p.Pro623Ala, NP_001341070.1:p.Pro618Ala, NP_976231.1:p.Pro669Ala, NP_001341075.1:p.Pro643Ala, NP_001341068.1:p.Pro626Ala, NP_001341085.1:p.Pro592Ala, NP_001341082.1:p.Pro629Ala, NP_001341073.1:p.Pro575Ala, NP_001341077.1:p.Pro669Ala, NP_001341076.1:p.Pro643Ala, NP_001234917.1:p.Pro626Ala, NP_001341067.1:p.Pro669Ala, NP_001341078.1:p.Pro600Ala, NP_001341071.1:p.Pro575Ala, NP_001341072.1:p.Pro575Ala, XP_016876806.1:p.Pro683Ala, XP_011535080.1:p.Pro695Ala, XP_016876804.1:p.Pro706Ala, XP_016876813.1:p.Pro632Ala, XP_024305360.1:p.Pro1320Ala, XP_024305361.1:p.Pro1315Ala, XP_024305362.1:p.Pro1311Ala, XP_024305363.1:p.Pro1277Ala, XP_024305364.1:p.Pro1263Ala, XP_016876803.1:p.Pro712Ala, XP_016876805.1:p.Pro700Ala, XP_016876819.1:p.Pro683Ala, XP_024305366.1:p.Pro632Ala, XP_016876807.1:p.Pro683Ala, XP_016876808.1:p.Pro683Ala, XP_016876812.1:p.Pro632Ala, XP_047287355.1:p.Pro1212Ala, XP_047287354.1:p.Pro1268Ala, XP_047287359.1:p.Pro691Ala, XP_047287361.1:p.Pro678Ala, XP_047287362.1:p.Pro674Ala, XP_047287363.1:p.Pro660Ala, XP_047287365.1:p.Pro648Ala, XP_047287366.1:p.Pro632Ala, XP_047287367.1:p.Pro626Ala, XP_047287364.1:p.Pro649Ala

        4.

        rs1488106804 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          14:39386951 (GRCh38)
          14:39856155 (GRCh37)
          Canonical SPDI:
          NC_000014.9:39386950:G:C
          Gene:
          MIA2 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,stop_lost,terminator_codon_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000006/1 (GnomAD_exomes)
          C=0.000019/5 (TOPMED)
          C=0.000021/3 (GnomAD)
          HGVS:

          5.

          rs1487430900 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            14:39279457 (GRCh38)
            14:39748661 (GRCh37)
            Canonical SPDI:
            NC_000014.9:39279456:A:G
            Gene:
            MIA2 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
            Validated:
            by frequency,by cluster
            MAF:
            G=0.000007/1 (GnomAD)
            HGVS:
            NC_000014.9:g.39279457A>G, NC_000014.8:g.39748661A>G, NG_030349.3:g.50537A>G, NM_001329214.4:c.2050A>G, NM_001329214.3:c.2050A>G, NM_001329214.2:c.2050A>G, NM_001329214.1:c.2050A>G, NM_005930.4:c.226A>G, NM_005930.3:c.226A>G, NM_203354.3:c.190A>G, NM_203354.2:c.190A>G, NM_203355.3:c.226A>G, NM_203355.2:c.226A>G, NM_001354152.3:c.226A>G, NM_001354152.2:c.226A>G, NM_001354152.1:c.226A>G, NM_001354154.2:c.226A>G, NM_001354154.1:c.226A>G, NM_001354155.2:c.226A>G, NM_001354155.1:c.226A>G, NM_001354145.2:c.-15A>G, NM_001354145.1:c.-15A>G, NR_148722.2:n.301A>G, NR_148722.1:n.562A>G, NM_001354151.2:c.226A>G, NM_001354151.1:c.226A>G, NM_001247989.2:c.226A>G, NM_001247989.1:c.226A>G, NM_001354137.2:c.139A>G, NM_001354137.1:c.139A>G, NM_001354140.2:c.-15A>G, NM_001354140.1:c.-15A>G, NR_148723.2:n.191A>G, NR_148723.1:n.452A>G, NM_001354150.2:c.208A>G, NM_001354150.1:c.208A>G, NM_001354157.2:c.226A>G, NM_001354157.1:c.226A>G, NM_001247990.2:c.-15A>G, NM_001247990.1:c.-15A>G, NM_001354141.2:c.-15A>G, NM_001354141.1:c.-15A>G, NM_203356.2:c.139A>G, NM_001354146.2:c.190A>G, NM_001354146.1:c.190A>G, NM_001354139.2:c.139A>G, NM_001354139.1:c.139A>G, NM_001354156.2:c.-15A>G, NM_001354156.1:c.-15A>G, NM_001354153.2:c.226A>G, NM_001354153.1:c.226A>G, NM_001354144.2:c.-15A>G, NM_001354144.1:c.-15A>G, NM_001354148.1:c.139A>G, NM_001354147.1:c.139A>G, NR_148721.1:n.393A>G, NM_001247988.1:c.139A>G, NM_001354138.1:c.139A>G, NM_001354149.1:c.139A>G, NM_001354142.1:c.-15A>G, NM_001354143.1:c.-15A>G, XM_017021317.3:c.139A>G, XM_017021317.2:c.139A>G, XM_017021317.1:c.139A>G, XM_011536778.3:c.190A>G, XM_011536778.2:c.190A>G, XM_011536778.1:c.190A>G, XM_017021315.3:c.208A>G, XM_017021315.2:c.208A>G, XM_017021315.1:c.208A>G, XM_017021324.3:c.-15A>G, XM_017021324.2:c.-15A>G, XM_017021324.1:c.-15A>G, XM_024449592.2:c.2050A>G, XM_024449592.1:c.2050A>G, XM_024449593.2:c.2050A>G, XM_024449593.1:c.2050A>G, XM_024449594.2:c.2050A>G, XM_024449594.1:c.2050A>G, XM_024449595.2:c.2050A>G, XM_024449595.1:c.2050A>G, XM_024449596.2:c.2050A>G, XM_024449596.1:c.2050A>G, XM_024449597.2:c.2050A>G, XM_024449597.1:c.2050A>G, XM_017021314.2:c.226A>G, XM_017021314.1:c.226A>G, XM_017021316.2:c.190A>G, XM_017021316.1:c.190A>G, XM_017021330.2:c.139A>G, XM_017021330.1:c.139A>G, XM_024449598.2:c.-15A>G, XM_024449598.1:c.-15A>G, XM_017021318.2:c.139A>G, XM_017021318.1:c.139A>G, XM_017021319.2:c.139A>G, XM_017021319.1:c.139A>G, XM_017021323.2:c.-15A>G, XM_017021323.1:c.-15A>G, XM_047431399.1:c.1726A>G, XM_047431398.1:c.2050A>G, XM_047431401.1:c.2050A>G, NM_203357.1:c.-15A>G, XM_047431403.1:c.190A>G, XM_047431405.1:c.139A>G, XM_047431406.1:c.139A>G, XM_047431407.1:c.226A>G, XM_047431409.1:c.190A>G, XM_047431410.1:c.-15A>G, XM_047431411.1:c.139A>G, XM_047431408.1:c.208A>G, XM_047431402.1:c.2050A>G, XM_047431412.1:c.226A>G, NP_001316143.1:p.Lys684Glu, NP_005921.2:p.Lys76Glu, NP_976229.1:p.Lys64Glu, NP_976230.1:p.Lys76Glu, NP_001341081.1:p.Lys76Glu, NP_001341083.1:p.Lys76Glu, NP_001341084.1:p.Lys76Glu, NP_001341080.1:p.Lys76Glu, NP_001234918.1:p.Lys76Glu, NP_001341066.1:p.Lys47Glu, NP_001341079.1:p.Lys70Glu, NP_001341086.1:p.Lys76Glu, NP_976231.1:p.Lys47Glu, NP_001341075.1:p.Lys64Glu, NP_001341068.1:p.Lys47Glu, NP_001341082.1:p.Lys76Glu, NP_001341077.1:p.Lys47Glu, NP_001341076.1:p.Lys47Glu, NP_001234917.1:p.Lys47Glu, NP_001341067.1:p.Lys47Glu, NP_001341078.1:p.Lys47Glu, XP_016876806.1:p.Lys47Glu, XP_011535080.1:p.Lys64Glu, XP_016876804.1:p.Lys70Glu, XP_024305360.1:p.Lys684Glu, XP_024305361.1:p.Lys684Glu, XP_024305362.1:p.Lys684Glu, XP_024305363.1:p.Lys684Glu, XP_024305364.1:p.Lys684Glu, XP_024305365.1:p.Lys684Glu, XP_016876803.1:p.Lys76Glu, XP_016876805.1:p.Lys64Glu, XP_016876819.1:p.Lys47Glu, XP_016876807.1:p.Lys47Glu, XP_016876808.1:p.Lys47Glu, XP_047287355.1:p.Lys576Glu, XP_047287354.1:p.Lys684Glu, XP_047287357.1:p.Lys684Glu, XP_047287359.1:p.Lys64Glu, XP_047287361.1:p.Lys47Glu, XP_047287362.1:p.Lys47Glu, XP_047287363.1:p.Lys76Glu, XP_047287365.1:p.Lys64Glu, XP_047287367.1:p.Lys47Glu, XP_047287364.1:p.Lys70Glu, XP_047287358.1:p.Lys684Glu, XP_047287368.1:p.Lys76Glu

            6.

            rs1484948969 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->A [Show Flanks]
              Chromosome:
              14:39321027 (GRCh38)
              14:39790232 (GRCh37)
              Canonical SPDI:
              NC_000014.9:39321027:A:AA
              Gene:
              MIA2 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000014.9:g.39321028dup, NC_000014.8:g.39790232dup, NG_030349.3:g.92108dup, NM_001329214.4:c.3468dup, NM_001329214.3:c.3468dup, NM_001329214.2:c.3468dup, NM_001329214.1:c.3468dup, NM_005930.4:c.1644dup, NM_005930.3:c.1644dup, NM_203354.3:c.1608dup, NM_203354.2:c.1608dup, NM_001354154.2:c.1644dup, NM_001354154.1:c.1644dup, NR_148722.2:n.1755dup, NR_148722.1:n.2016dup, NM_001354151.2:c.1671dup, NM_001354151.1:c.1671dup, NM_001247989.2:c.1659dup, NM_001247989.1:c.1659dup, NM_001354137.2:c.1557dup, NM_001354137.1:c.1557dup, NM_001354140.2:c.1404dup, NM_001354140.1:c.1404dup, NR_148723.2:n.1645dup, NR_148723.1:n.1906dup, NM_001354150.2:c.1626dup, NM_001354150.1:c.1626dup, NM_001354157.2:c.1566dup, NM_001354157.1:c.1566dup, NM_001247990.2:c.1419dup, NM_001247990.1:c.1419dup, NM_001354141.2:c.1404dup, NM_001354141.1:c.1404dup, NM_203356.2:c.1557dup, NM_001354156.2:c.1326dup, NM_001354156.1:c.1326dup, NM_001354148.1:c.1557dup, NM_001354147.1:c.1479dup, NM_001354138.1:c.1557dup, XM_017021317.3:c.1599dup, XM_017021317.2:c.1599dup, XM_017021317.1:c.1599dup, XM_011536778.3:c.1635dup, XM_011536778.2:c.1635dup, XM_011536778.1:c.1635dup, XM_017021315.3:c.1668dup, XM_017021315.2:c.1668dup, XM_017021315.1:c.1668dup, XM_017021324.3:c.1446dup, XM_017021324.2:c.1446dup, XM_017021324.1:c.1446dup, XM_024449592.2:c.3510dup, XM_024449592.1:c.3510dup, XM_024449593.2:c.3495dup, XM_024449593.1:c.3495dup, XM_024449594.2:c.3483dup, XM_024449594.1:c.3483dup, XM_024449597.2:c.3510dup, XM_024449597.1:c.3510dup, XM_017021314.2:c.1686dup, XM_017021314.1:c.1686dup, XM_017021316.2:c.1650dup, XM_017021316.1:c.1650dup, XM_017021330.2:c.1599dup, XM_017021330.1:c.1599dup, XM_024449598.2:c.1446dup, XM_024449598.1:c.1446dup, XM_017021318.2:c.1599dup, XM_017021318.1:c.1599dup, XM_017021319.2:c.1599dup, XM_017021319.1:c.1599dup, XM_017021323.2:c.1446dup, XM_017021323.1:c.1446dup, XM_047431399.1:c.3186dup, XM_047431401.1:c.3483dup, NM_203357.1:c.1419dup, XM_047431403.1:c.1623dup, XM_047431405.1:c.1584dup, XM_047431406.1:c.1572dup, XM_047431410.1:c.1446dup, XM_047431412.1:c.1644dup, NP_001316143.1:p.Pro1157fs, NP_005921.2:p.Pro549fs, NP_976229.1:p.Pro537fs, NP_001341083.1:p.Pro549fs, NP_001341080.1:p.Pro558fs, NP_001234918.1:p.Pro554fs, NP_001341066.1:p.Pro520fs, NP_001341069.1:p.Pro469fs, NP_001341079.1:p.Pro543fs, NP_001341086.1:p.Pro523fs, NP_001234919.1:p.Pro474fs, NP_001341070.1:p.Pro469fs, NP_976231.1:p.Pro520fs, NP_001341085.1:p.Pro443fs, NP_001341077.1:p.Pro520fs, NP_001341076.1:p.Pro494fs, NP_001341067.1:p.Pro520fs, XP_016876806.1:p.Pro534fs, XP_011535080.1:p.Pro546fs, XP_016876804.1:p.Pro557fs, XP_016876813.1:p.Pro483fs, XP_024305360.1:p.Pro1171fs, XP_024305361.1:p.Pro1166fs, XP_024305362.1:p.Pro1162fs, XP_024305365.1:p.Pro1171fs, XP_016876803.1:p.Pro563fs, XP_016876805.1:p.Pro551fs, XP_016876819.1:p.Pro534fs, XP_024305366.1:p.Pro483fs, XP_016876807.1:p.Pro534fs, XP_016876808.1:p.Pro534fs, XP_016876812.1:p.Pro483fs, XP_047287355.1:p.Pro1063fs, XP_047287357.1:p.Pro1162fs, XP_047287359.1:p.Pro542fs, XP_047287361.1:p.Pro529fs, XP_047287362.1:p.Pro525fs, XP_047287366.1:p.Pro483fs, XP_047287368.1:p.Pro549fs

              7.

              rs1482438154 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C,G [Show Flanks]
                Chromosome:
                14:39302144 (GRCh38)
                14:39771348 (GRCh37)
                Canonical SPDI:
                NC_000014.9:39302143:T:A,NC_000014.9:39302143:T:C,NC_000014.9:39302143:T:G
                Gene:
                MIA2 (Varview)
                Functional Consequence:
                synonymous_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                A=0.000004/1 (TOPMED)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000014.9:g.39302144T>A, NC_000014.9:g.39302144T>C, NC_000014.9:g.39302144T>G, NC_000014.8:g.39771348T>A, NC_000014.8:g.39771348T>C, NC_000014.8:g.39771348T>G, NG_030349.3:g.73224T>A, NG_030349.3:g.73224T>C, NG_030349.3:g.73224T>G, NM_001329214.4:c.2635T>A, NM_001329214.4:c.2635T>C, NM_001329214.4:c.2635T>G, NM_001329214.3:c.2635T>A, NM_001329214.3:c.2635T>C, NM_001329214.3:c.2635T>G, NM_001329214.2:c.2635T>A, NM_001329214.2:c.2635T>C, NM_001329214.2:c.2635T>G, NM_001329214.1:c.2635T>A, NM_001329214.1:c.2635T>C, NM_001329214.1:c.2635T>G, NM_005930.4:c.811T>A, NM_005930.4:c.811T>C, NM_005930.4:c.811T>G, NM_005930.3:c.811T>A, NM_005930.3:c.811T>C, NM_005930.3:c.811T>G, NM_203354.3:c.775T>A, NM_203354.3:c.775T>C, NM_203354.3:c.775T>G, NM_203354.2:c.775T>A, NM_203354.2:c.775T>C, NM_203354.2:c.775T>G, NM_203355.3:c.811T>A, NM_203355.3:c.811T>C, NM_203355.3:c.811T>G, NM_203355.2:c.811T>A, NM_203355.2:c.811T>C, NM_203355.2:c.811T>G, NM_001354152.3:c.838T>A, NM_001354152.3:c.838T>C, NM_001354152.3:c.838T>G, NM_001354152.2:c.838T>A, NM_001354152.2:c.838T>C, NM_001354152.2:c.838T>G, NM_001354152.1:c.838T>A, NM_001354152.1:c.838T>C, NM_001354152.1:c.838T>G, NM_001354154.2:c.811T>A, NM_001354154.2:c.811T>C, NM_001354154.2:c.811T>G, NM_001354154.1:c.811T>A, NM_001354154.1:c.811T>C, NM_001354154.1:c.811T>G, NM_001354155.2:c.811T>A, NM_001354155.2:c.811T>C, NM_001354155.2:c.811T>G, NM_001354155.1:c.811T>A, NM_001354155.1:c.811T>C, NM_001354155.1:c.811T>G, NM_001354145.2:c.571T>A, NM_001354145.2:c.571T>C, NM_001354145.2:c.571T>G, NM_001354145.1:c.571T>A, NM_001354145.1:c.571T>C, NM_001354145.1:c.571T>G, NR_148722.2:n.886T>A, NR_148722.2:n.886T>C, NR_148722.2:n.886T>G, NR_148722.1:n.1147T>A, NR_148722.1:n.1147T>C, NR_148722.1:n.1147T>G, NM_001354151.2:c.838T>A, NM_001354151.2:c.838T>C, NM_001354151.2:c.838T>G, NM_001354151.1:c.838T>A, NM_001354151.1:c.838T>C, NM_001354151.1:c.838T>G, NM_001247989.2:c.826T>A, NM_001247989.2:c.826T>C, NM_001247989.2:c.826T>G, NM_001247989.1:c.826T>A, NM_001247989.1:c.826T>C, NM_001247989.1:c.826T>G, NM_001354137.2:c.724T>A, NM_001354137.2:c.724T>C, NM_001354137.2:c.724T>G, NM_001354137.1:c.724T>A, NM_001354137.1:c.724T>C, NM_001354137.1:c.724T>G, NM_001354140.2:c.571T>A, NM_001354140.2:c.571T>C, NM_001354140.2:c.571T>G, NM_001354140.1:c.571T>A, NM_001354140.1:c.571T>C, NM_001354140.1:c.571T>G, NR_148723.2:n.776T>A, NR_148723.2:n.776T>C, NR_148723.2:n.776T>G, NR_148723.1:n.1037T>A, NR_148723.1:n.1037T>C, NR_148723.1:n.1037T>G, NM_001354150.2:c.793T>A, NM_001354150.2:c.793T>C, NM_001354150.2:c.793T>G, NM_001354150.1:c.793T>A, NM_001354150.1:c.793T>C, NM_001354150.1:c.793T>G, NM_001354157.2:c.733T>A, NM_001354157.2:c.733T>C, NM_001354157.2:c.733T>G, NM_001354157.1:c.733T>A, NM_001354157.1:c.733T>C, NM_001354157.1:c.733T>G, NM_001247990.2:c.586T>A, NM_001247990.2:c.586T>C, NM_001247990.2:c.586T>G, NM_001247990.1:c.586T>A, NM_001247990.1:c.586T>C, NM_001247990.1:c.586T>G, NM_001354141.2:c.571T>A, NM_001354141.2:c.571T>C, NM_001354141.2:c.571T>G, NM_001354141.1:c.571T>A, NM_001354141.1:c.571T>C, NM_001354141.1:c.571T>G, NM_203356.2:c.724T>A, NM_203356.2:c.724T>C, NM_203356.2:c.724T>G, NM_001354146.2:c.775T>A, NM_001354146.2:c.775T>C, NM_001354146.2:c.775T>G, NM_001354146.1:c.775T>A, NM_001354146.1:c.775T>C, NM_001354146.1:c.775T>G, NM_001354139.2:c.724T>A, NM_001354139.2:c.724T>C, NM_001354139.2:c.724T>G, NM_001354139.1:c.724T>A, NM_001354139.1:c.724T>C, NM_001354139.1:c.724T>G, NM_001354156.2:c.493T>A, NM_001354156.2:c.493T>C, NM_001354156.2:c.493T>G, NM_001354156.1:c.493T>A, NM_001354156.1:c.493T>C, NM_001354156.1:c.493T>G, NM_001354153.2:c.733T>A, NM_001354153.2:c.733T>C, NM_001354153.2:c.733T>G, NM_001354153.1:c.733T>A, NM_001354153.1:c.733T>C, NM_001354153.1:c.733T>G, NM_001354144.2:c.571T>A, NM_001354144.2:c.571T>C, NM_001354144.2:c.571T>G, NM_001354144.1:c.571T>A, NM_001354144.1:c.571T>C, NM_001354144.1:c.571T>G, NM_001354148.1:c.724T>A, NM_001354148.1:c.724T>C, NM_001354148.1:c.724T>G, NM_001354147.1:c.646T>A, NM_001354147.1:c.646T>C, NM_001354147.1:c.646T>G, NR_148721.1:n.978T>A, NR_148721.1:n.978T>C, NR_148721.1:n.978T>G, NM_001247988.1:c.724T>A, NM_001247988.1:c.724T>C, NM_001247988.1:c.724T>G, NM_001354138.1:c.724T>A, NM_001354138.1:c.724T>C, NM_001354138.1:c.724T>G, NM_001354149.1:c.646T>A, NM_001354149.1:c.646T>C, NM_001354149.1:c.646T>G, NM_001354142.1:c.571T>A, NM_001354142.1:c.571T>C, NM_001354142.1:c.571T>G, NM_001354143.1:c.571T>A, NM_001354143.1:c.571T>C, NM_001354143.1:c.571T>G, XM_017021317.3:c.766T>A, XM_017021317.3:c.766T>C, XM_017021317.3:c.766T>G, XM_017021317.2:c.766T>A, XM_017021317.2:c.766T>C, XM_017021317.2:c.766T>G, XM_017021317.1:c.766T>A, XM_017021317.1:c.766T>C, XM_017021317.1:c.766T>G, XM_011536778.3:c.802T>A, XM_011536778.3:c.802T>C, XM_011536778.3:c.802T>G, XM_011536778.2:c.802T>A, XM_011536778.2:c.802T>C, XM_011536778.2:c.802T>G, XM_011536778.1:c.802T>A, XM_011536778.1:c.802T>C, XM_011536778.1:c.802T>G, XM_017021315.3:c.835T>A, XM_017021315.3:c.835T>C, XM_017021315.3:c.835T>G, XM_017021315.2:c.835T>A, XM_017021315.2:c.835T>C, XM_017021315.2:c.835T>G, XM_017021315.1:c.835T>A, XM_017021315.1:c.835T>C, XM_017021315.1:c.835T>G, XM_017021324.3:c.613T>A, XM_017021324.3:c.613T>C, XM_017021324.3:c.613T>G, XM_017021324.2:c.613T>A, XM_017021324.2:c.613T>C, XM_017021324.2:c.613T>G, XM_017021324.1:c.613T>A, XM_017021324.1:c.613T>C, XM_017021324.1:c.613T>G, XM_024449592.2:c.2677T>A, XM_024449592.2:c.2677T>C, XM_024449592.2:c.2677T>G, XM_024449592.1:c.2677T>A, XM_024449592.1:c.2677T>C, XM_024449592.1:c.2677T>G, XM_024449593.2:c.2662T>A, XM_024449593.2:c.2662T>C, XM_024449593.2:c.2662T>G, XM_024449593.1:c.2662T>A, XM_024449593.1:c.2662T>C, XM_024449593.1:c.2662T>G, XM_024449594.2:c.2650T>A, XM_024449594.2:c.2650T>C, XM_024449594.2:c.2650T>G, XM_024449594.1:c.2650T>A, XM_024449594.1:c.2650T>C, XM_024449594.1:c.2650T>G, XM_024449595.2:c.2677T>A, XM_024449595.2:c.2677T>C, XM_024449595.2:c.2677T>G, XM_024449595.1:c.2677T>A, XM_024449595.1:c.2677T>C, XM_024449595.1:c.2677T>G, XM_024449596.2:c.2635T>A, XM_024449596.2:c.2635T>C, XM_024449596.2:c.2635T>G, XM_024449596.1:c.2635T>A, XM_024449596.1:c.2635T>C, XM_024449596.1:c.2635T>G, XM_024449597.2:c.2677T>A, XM_024449597.2:c.2677T>C, XM_024449597.2:c.2677T>G, XM_024449597.1:c.2677T>A, XM_024449597.1:c.2677T>C, XM_024449597.1:c.2677T>G, XM_017021314.2:c.853T>A, XM_017021314.2:c.853T>C, XM_017021314.2:c.853T>G, XM_017021314.1:c.853T>A, XM_017021314.1:c.853T>C, XM_017021314.1:c.853T>G, XM_017021316.2:c.817T>A, XM_017021316.2:c.817T>C, XM_017021316.2:c.817T>G, XM_017021316.1:c.817T>A, XM_017021316.1:c.817T>C, XM_017021316.1:c.817T>G, XM_017021330.2:c.766T>A, XM_017021330.2:c.766T>C, XM_017021330.2:c.766T>G, XM_017021330.1:c.766T>A, XM_017021330.1:c.766T>C, XM_017021330.1:c.766T>G, XM_024449598.2:c.613T>A, XM_024449598.2:c.613T>C, XM_024449598.2:c.613T>G, XM_024449598.1:c.613T>A, XM_024449598.1:c.613T>C, XM_024449598.1:c.613T>G, XM_017021318.2:c.766T>A, XM_017021318.2:c.766T>C, XM_017021318.2:c.766T>G, XM_017021318.1:c.766T>A, XM_017021318.1:c.766T>C, XM_017021318.1:c.766T>G, XM_017021319.2:c.766T>A, XM_017021319.2:c.766T>C, XM_017021319.2:c.766T>G, XM_017021319.1:c.766T>A, XM_017021319.1:c.766T>C, XM_017021319.1:c.766T>G, XM_017021323.2:c.613T>A, XM_017021323.2:c.613T>C, XM_017021323.2:c.613T>G, XM_017021323.1:c.613T>A, XM_017021323.1:c.613T>C, XM_017021323.1:c.613T>G, XM_047431399.1:c.2353T>A, XM_047431399.1:c.2353T>C, XM_047431399.1:c.2353T>G, XM_047431398.1:c.2650T>A, XM_047431398.1:c.2650T>C, XM_047431398.1:c.2650T>G, XM_047431401.1:c.2650T>A, XM_047431401.1:c.2650T>C, XM_047431401.1:c.2650T>G, NM_203357.1:c.586T>A, NM_203357.1:c.586T>C, NM_203357.1:c.586T>G, XM_047431403.1:c.790T>A, XM_047431403.1:c.790T>C, XM_047431403.1:c.790T>G, XM_047431405.1:c.751T>A, XM_047431405.1:c.751T>C, XM_047431405.1:c.751T>G, XM_047431406.1:c.739T>A, XM_047431406.1:c.739T>C, XM_047431406.1:c.739T>G, XM_047431407.1:c.826T>A, XM_047431407.1:c.826T>C, XM_047431407.1:c.826T>G, XM_047431409.1:c.790T>A, XM_047431409.1:c.790T>C, XM_047431409.1:c.790T>G, XM_047431410.1:c.613T>A, XM_047431410.1:c.613T>C, XM_047431410.1:c.613T>G, XM_047431411.1:c.724T>A, XM_047431411.1:c.724T>C, XM_047431411.1:c.724T>G, XM_047431408.1:c.793T>A, XM_047431408.1:c.793T>C, XM_047431408.1:c.793T>G, XM_047431402.1:c.2677T>A, XM_047431402.1:c.2677T>C, XM_047431402.1:c.2677T>G, XM_047431412.1:c.811T>A, XM_047431412.1:c.811T>C, XM_047431412.1:c.811T>G, NP_001316143.1:p.Leu879Met, NP_001316143.1:p.Leu879Val, NP_005921.2:p.Leu271Met, NP_005921.2:p.Leu271Val, NP_976229.1:p.Leu259Met, NP_976229.1:p.Leu259Val, NP_976230.1:p.Leu271Met, NP_976230.1:p.Leu271Val, NP_001341081.1:p.Leu280Met, NP_001341081.1:p.Leu280Val, NP_001341083.1:p.Leu271Met, NP_001341083.1:p.Leu271Val, NP_001341084.1:p.Leu271Met, NP_001341084.1:p.Leu271Val, NP_001341074.1:p.Leu191Met, NP_001341074.1:p.Leu191Val, NP_001341080.1:p.Leu280Met, NP_001341080.1:p.Leu280Val, NP_001234918.1:p.Leu276Met, NP_001234918.1:p.Leu276Val, NP_001341066.1:p.Leu242Met, NP_001341066.1:p.Leu242Val, NP_001341069.1:p.Leu191Met, NP_001341069.1:p.Leu191Val, NP_001341079.1:p.Leu265Met, NP_001341079.1:p.Leu265Val, NP_001341086.1:p.Leu245Met, NP_001341086.1:p.Leu245Val, NP_001234919.1:p.Leu196Met, NP_001234919.1:p.Leu196Val, NP_001341070.1:p.Leu191Met, NP_001341070.1:p.Leu191Val, NP_976231.1:p.Leu242Met, NP_976231.1:p.Leu242Val, NP_001341075.1:p.Leu259Met, NP_001341075.1:p.Leu259Val, NP_001341068.1:p.Leu242Met, NP_001341068.1:p.Leu242Val, NP_001341085.1:p.Leu165Met, NP_001341085.1:p.Leu165Val, NP_001341082.1:p.Leu245Met, NP_001341082.1:p.Leu245Val, NP_001341073.1:p.Leu191Met, NP_001341073.1:p.Leu191Val, NP_001341077.1:p.Leu242Met, NP_001341077.1:p.Leu242Val, NP_001341076.1:p.Leu216Met, NP_001341076.1:p.Leu216Val, NP_001234917.1:p.Leu242Met, NP_001234917.1:p.Leu242Val, NP_001341067.1:p.Leu242Met, NP_001341067.1:p.Leu242Val, NP_001341078.1:p.Leu216Met, NP_001341078.1:p.Leu216Val, NP_001341071.1:p.Leu191Met, NP_001341071.1:p.Leu191Val, NP_001341072.1:p.Leu191Met, NP_001341072.1:p.Leu191Val, XP_016876806.1:p.Leu256Met, XP_016876806.1:p.Leu256Val, XP_011535080.1:p.Leu268Met, XP_011535080.1:p.Leu268Val, XP_016876804.1:p.Leu279Met, XP_016876804.1:p.Leu279Val, XP_016876813.1:p.Leu205Met, XP_016876813.1:p.Leu205Val, XP_024305360.1:p.Leu893Met, XP_024305360.1:p.Leu893Val, XP_024305361.1:p.Leu888Met, XP_024305361.1:p.Leu888Val, XP_024305362.1:p.Leu884Met, XP_024305362.1:p.Leu884Val, XP_024305363.1:p.Leu893Met, XP_024305363.1:p.Leu893Val, XP_024305364.1:p.Leu879Met, XP_024305364.1:p.Leu879Val, XP_024305365.1:p.Leu893Met, XP_024305365.1:p.Leu893Val, XP_016876803.1:p.Leu285Met, XP_016876803.1:p.Leu285Val, XP_016876805.1:p.Leu273Met, XP_016876805.1:p.Leu273Val, XP_016876819.1:p.Leu256Met, XP_016876819.1:p.Leu256Val, XP_024305366.1:p.Leu205Met, XP_024305366.1:p.Leu205Val, XP_016876807.1:p.Leu256Met, XP_016876807.1:p.Leu256Val, XP_016876808.1:p.Leu256Met, XP_016876808.1:p.Leu256Val, XP_016876812.1:p.Leu205Met, XP_016876812.1:p.Leu205Val, XP_047287355.1:p.Leu785Met, XP_047287355.1:p.Leu785Val, XP_047287354.1:p.Leu884Met, XP_047287354.1:p.Leu884Val, XP_047287357.1:p.Leu884Met, XP_047287357.1:p.Leu884Val, XP_047287359.1:p.Leu264Met, XP_047287359.1:p.Leu264Val, XP_047287361.1:p.Leu251Met, XP_047287361.1:p.Leu251Val, XP_047287362.1:p.Leu247Met, XP_047287362.1:p.Leu247Val, XP_047287363.1:p.Leu276Met, XP_047287363.1:p.Leu276Val, XP_047287365.1:p.Leu264Met, XP_047287365.1:p.Leu264Val, XP_047287366.1:p.Leu205Met, XP_047287366.1:p.Leu205Val, XP_047287367.1:p.Leu242Met, XP_047287367.1:p.Leu242Val, XP_047287364.1:p.Leu265Met, XP_047287364.1:p.Leu265Val, XP_047287358.1:p.Leu893Met, XP_047287358.1:p.Leu893Val, XP_047287368.1:p.Leu271Met, XP_047287368.1:p.Leu271Val

                8.

                rs1481706396 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  14:39295012 (GRCh38)
                  14:39764216 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:39295011:C:G
                  Gene:
                  MIA2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.39295012C>G, NC_000014.8:g.39764216C>G, NG_030349.3:g.66092C>G, NM_001329214.4:c.2479C>G, NM_001329214.3:c.2479C>G, NM_001329214.2:c.2479C>G, NM_001329214.1:c.2479C>G, NM_005930.4:c.655C>G, NM_005930.3:c.655C>G, NM_203354.3:c.619C>G, NM_203354.2:c.619C>G, NM_203355.3:c.655C>G, NM_203355.2:c.655C>G, NM_001354152.3:c.682C>G, NM_001354152.2:c.682C>G, NM_001354152.1:c.682C>G, NM_001354154.2:c.655C>G, NM_001354154.1:c.655C>G, NM_001354155.2:c.655C>G, NM_001354155.1:c.655C>G, NM_001354145.2:c.415C>G, NM_001354145.1:c.415C>G, NR_148722.2:n.730C>G, NR_148722.1:n.991C>G, NM_001354151.2:c.682C>G, NM_001354151.1:c.682C>G, NM_001247989.2:c.670C>G, NM_001247989.1:c.670C>G, NM_001354137.2:c.568C>G, NM_001354137.1:c.568C>G, NM_001354140.2:c.415C>G, NM_001354140.1:c.415C>G, NR_148723.2:n.620C>G, NR_148723.1:n.881C>G, NM_001354150.2:c.637C>G, NM_001354150.1:c.637C>G, NM_001354157.2:c.577C>G, NM_001354157.1:c.577C>G, NM_001247990.2:c.430C>G, NM_001247990.1:c.430C>G, NM_001354141.2:c.415C>G, NM_001354141.1:c.415C>G, NM_203356.2:c.568C>G, NM_001354146.2:c.619C>G, NM_001354146.1:c.619C>G, NM_001354139.2:c.568C>G, NM_001354139.1:c.568C>G, NM_001354156.2:c.337C>G, NM_001354156.1:c.337C>G, NM_001354153.2:c.577C>G, NM_001354153.1:c.577C>G, NM_001354144.2:c.415C>G, NM_001354144.1:c.415C>G, NM_001354148.1:c.568C>G, NM_001354147.1:c.490C>G, NR_148721.1:n.822C>G, NM_001247988.1:c.568C>G, NM_001354138.1:c.568C>G, NM_001354149.1:c.490C>G, NM_001354142.1:c.415C>G, NM_001354143.1:c.415C>G, XM_017021317.3:c.610C>G, XM_017021317.2:c.610C>G, XM_017021317.1:c.610C>G, XM_011536778.3:c.646C>G, XM_011536778.2:c.646C>G, XM_011536778.1:c.646C>G, XM_017021315.3:c.679C>G, XM_017021315.2:c.679C>G, XM_017021315.1:c.679C>G, XM_017021324.3:c.457C>G, XM_017021324.2:c.457C>G, XM_017021324.1:c.457C>G, XM_024449592.2:c.2521C>G, XM_024449592.1:c.2521C>G, XM_024449593.2:c.2506C>G, XM_024449593.1:c.2506C>G, XM_024449594.2:c.2494C>G, XM_024449594.1:c.2494C>G, XM_024449595.2:c.2521C>G, XM_024449595.1:c.2521C>G, XM_024449596.2:c.2479C>G, XM_024449596.1:c.2479C>G, XM_024449597.2:c.2521C>G, XM_024449597.1:c.2521C>G, XM_017021314.2:c.697C>G, XM_017021314.1:c.697C>G, XM_017021316.2:c.661C>G, XM_017021316.1:c.661C>G, XM_017021330.2:c.610C>G, XM_017021330.1:c.610C>G, XM_024449598.2:c.457C>G, XM_024449598.1:c.457C>G, XM_017021318.2:c.610C>G, XM_017021318.1:c.610C>G, XM_017021319.2:c.610C>G, XM_017021319.1:c.610C>G, XM_017021323.2:c.457C>G, XM_017021323.1:c.457C>G, XM_047431399.1:c.2197C>G, XM_047431398.1:c.2494C>G, XM_047431401.1:c.2494C>G, NM_203357.1:c.430C>G, XM_047431403.1:c.634C>G, XM_047431405.1:c.595C>G, XM_047431406.1:c.583C>G, XM_047431407.1:c.670C>G, XM_047431409.1:c.634C>G, XM_047431410.1:c.457C>G, XM_047431411.1:c.568C>G, XM_047431408.1:c.637C>G, XM_047431402.1:c.2521C>G, XM_047431412.1:c.655C>G, NP_001316143.1:p.Gln827Glu, NP_005921.2:p.Gln219Glu, NP_976229.1:p.Gln207Glu, NP_976230.1:p.Gln219Glu, NP_001341081.1:p.Gln228Glu, NP_001341083.1:p.Gln219Glu, NP_001341084.1:p.Gln219Glu, NP_001341074.1:p.Gln139Glu, NP_001341080.1:p.Gln228Glu, NP_001234918.1:p.Gln224Glu, NP_001341066.1:p.Gln190Glu, NP_001341069.1:p.Gln139Glu, NP_001341079.1:p.Gln213Glu, NP_001341086.1:p.Gln193Glu, NP_001234919.1:p.Gln144Glu, NP_001341070.1:p.Gln139Glu, NP_976231.1:p.Gln190Glu, NP_001341075.1:p.Gln207Glu, NP_001341068.1:p.Gln190Glu, NP_001341085.1:p.Gln113Glu, NP_001341082.1:p.Gln193Glu, NP_001341073.1:p.Gln139Glu, NP_001341077.1:p.Gln190Glu, NP_001341076.1:p.Gln164Glu, NP_001234917.1:p.Gln190Glu, NP_001341067.1:p.Gln190Glu, NP_001341078.1:p.Gln164Glu, NP_001341071.1:p.Gln139Glu, NP_001341072.1:p.Gln139Glu, XP_016876806.1:p.Gln204Glu, XP_011535080.1:p.Gln216Glu, XP_016876804.1:p.Gln227Glu, XP_016876813.1:p.Gln153Glu, XP_024305360.1:p.Gln841Glu, XP_024305361.1:p.Gln836Glu, XP_024305362.1:p.Gln832Glu, XP_024305363.1:p.Gln841Glu, XP_024305364.1:p.Gln827Glu, XP_024305365.1:p.Gln841Glu, XP_016876803.1:p.Gln233Glu, XP_016876805.1:p.Gln221Glu, XP_016876819.1:p.Gln204Glu, XP_024305366.1:p.Gln153Glu, XP_016876807.1:p.Gln204Glu, XP_016876808.1:p.Gln204Glu, XP_016876812.1:p.Gln153Glu, XP_047287355.1:p.Gln733Glu, XP_047287354.1:p.Gln832Glu, XP_047287357.1:p.Gln832Glu, XP_047287359.1:p.Gln212Glu, XP_047287361.1:p.Gln199Glu, XP_047287362.1:p.Gln195Glu, XP_047287363.1:p.Gln224Glu, XP_047287365.1:p.Gln212Glu, XP_047287366.1:p.Gln153Glu, XP_047287367.1:p.Gln190Glu, XP_047287364.1:p.Gln213Glu, XP_047287358.1:p.Gln841Glu, XP_047287368.1:p.Gln219Glu

                  9.

                  rs1481392693 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    14:39386891 (GRCh38)
                    14:39856095 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:39386890:G:A
                    Gene:
                    MIA2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    HGVS:

                    10.

                    rs1479856498 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,G [Show Flanks]
                      Chromosome:
                      14:39308476 (GRCh38)
                      14:39777680 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:39308475:A:C,NC_000014.9:39308475:A:G
                      Gene:
                      MIA2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0.00007/1 (ALFA)
                      HGVS:
                      NC_000014.9:g.39308476A>C, NC_000014.9:g.39308476A>G, NC_000014.8:g.39777680A>C, NC_000014.8:g.39777680A>G, NG_030349.3:g.79556A>C, NG_030349.3:g.79556A>G, NM_001329214.4:c.2906A>C, NM_001329214.4:c.2906A>G, NM_001329214.3:c.2906A>C, NM_001329214.3:c.2906A>G, NM_001329214.2:c.2906A>C, NM_001329214.2:c.2906A>G, NM_001329214.1:c.2906A>C, NM_001329214.1:c.2906A>G, NM_005930.4:c.1082A>C, NM_005930.4:c.1082A>G, NM_005930.3:c.1082A>C, NM_005930.3:c.1082A>G, NM_203354.3:c.1046A>C, NM_203354.3:c.1046A>G, NM_203354.2:c.1046A>C, NM_203354.2:c.1046A>G, NM_203355.3:c.1082A>C, NM_203355.3:c.1082A>G, NM_203355.2:c.1082A>C, NM_203355.2:c.1082A>G, NM_001354152.3:c.1109A>C, NM_001354152.3:c.1109A>G, NM_001354152.2:c.1109A>C, NM_001354152.2:c.1109A>G, NM_001354152.1:c.1109A>C, NM_001354152.1:c.1109A>G, NM_001354154.2:c.1082A>C, NM_001354154.2:c.1082A>G, NM_001354154.1:c.1082A>C, NM_001354154.1:c.1082A>G, NM_001354155.2:c.1082A>C, NM_001354155.2:c.1082A>G, NM_001354155.1:c.1082A>C, NM_001354155.1:c.1082A>G, NM_001354145.2:c.842A>C, NM_001354145.2:c.842A>G, NM_001354145.1:c.842A>C, NM_001354145.1:c.842A>G, NR_148722.2:n.1193A>C, NR_148722.2:n.1193A>G, NR_148722.1:n.1454A>C, NR_148722.1:n.1454A>G, NM_001354151.2:c.1109A>C, NM_001354151.2:c.1109A>G, NM_001354151.1:c.1109A>C, NM_001354151.1:c.1109A>G, NM_001247989.2:c.1097A>C, NM_001247989.2:c.1097A>G, NM_001247989.1:c.1097A>C, NM_001247989.1:c.1097A>G, NM_001354137.2:c.995A>C, NM_001354137.2:c.995A>G, NM_001354137.1:c.995A>C, NM_001354137.1:c.995A>G, NM_001354140.2:c.842A>C, NM_001354140.2:c.842A>G, NM_001354140.1:c.842A>C, NM_001354140.1:c.842A>G, NR_148723.2:n.1083A>C, NR_148723.2:n.1083A>G, NR_148723.1:n.1344A>C, NR_148723.1:n.1344A>G, NM_001354150.2:c.1064A>C, NM_001354150.2:c.1064A>G, NM_001354150.1:c.1064A>C, NM_001354150.1:c.1064A>G, NM_001354157.2:c.1004A>C, NM_001354157.2:c.1004A>G, NM_001354157.1:c.1004A>C, NM_001354157.1:c.1004A>G, NM_001247990.2:c.857A>C, NM_001247990.2:c.857A>G, NM_001247990.1:c.857A>C, NM_001247990.1:c.857A>G, NM_001354141.2:c.842A>C, NM_001354141.2:c.842A>G, NM_001354141.1:c.842A>C, NM_001354141.1:c.842A>G, NM_203356.2:c.995A>C, NM_203356.2:c.995A>G, NM_001354146.2:c.1046A>C, NM_001354146.2:c.1046A>G, NM_001354146.1:c.1046A>C, NM_001354146.1:c.1046A>G, NM_001354139.2:c.995A>C, NM_001354139.2:c.995A>G, NM_001354139.1:c.995A>C, NM_001354139.1:c.995A>G, NM_001354156.2:c.764A>C, NM_001354156.2:c.764A>G, NM_001354156.1:c.764A>C, NM_001354156.1:c.764A>G, NM_001354153.2:c.1004A>C, NM_001354153.2:c.1004A>G, NM_001354153.1:c.1004A>C, NM_001354153.1:c.1004A>G, NM_001354144.2:c.842A>C, NM_001354144.2:c.842A>G, NM_001354144.1:c.842A>C, NM_001354144.1:c.842A>G, NM_001354148.1:c.995A>C, NM_001354148.1:c.995A>G, NM_001354147.1:c.917A>C, NM_001354147.1:c.917A>G, NR_148721.1:n.1285A>C, NR_148721.1:n.1285A>G, NM_001247988.1:c.995A>C, NM_001247988.1:c.995A>G, NM_001354138.1:c.995A>C, NM_001354138.1:c.995A>G, NM_001354149.1:c.917A>C, NM_001354149.1:c.917A>G, NM_001354142.1:c.842A>C, NM_001354142.1:c.842A>G, NM_001354143.1:c.842A>C, NM_001354143.1:c.842A>G, XM_017021317.3:c.1037A>C, XM_017021317.3:c.1037A>G, XM_017021317.2:c.1037A>C, XM_017021317.2:c.1037A>G, XM_017021317.1:c.1037A>C, XM_017021317.1:c.1037A>G, XM_011536778.3:c.1073A>C, XM_011536778.3:c.1073A>G, XM_011536778.2:c.1073A>C, XM_011536778.2:c.1073A>G, XM_011536778.1:c.1073A>C, XM_011536778.1:c.1073A>G, XM_017021315.3:c.1106A>C, XM_017021315.3:c.1106A>G, XM_017021315.2:c.1106A>C, XM_017021315.2:c.1106A>G, XM_017021315.1:c.1106A>C, XM_017021315.1:c.1106A>G, XM_017021324.3:c.884A>C, XM_017021324.3:c.884A>G, XM_017021324.2:c.884A>C, XM_017021324.2:c.884A>G, XM_017021324.1:c.884A>C, XM_017021324.1:c.884A>G, XM_024449592.2:c.2948A>C, XM_024449592.2:c.2948A>G, XM_024449592.1:c.2948A>C, XM_024449592.1:c.2948A>G, XM_024449593.2:c.2933A>C, XM_024449593.2:c.2933A>G, XM_024449593.1:c.2933A>C, XM_024449593.1:c.2933A>G, XM_024449594.2:c.2921A>C, XM_024449594.2:c.2921A>G, XM_024449594.1:c.2921A>C, XM_024449594.1:c.2921A>G, XM_024449595.2:c.2948A>C, XM_024449595.2:c.2948A>G, XM_024449595.1:c.2948A>C, XM_024449595.1:c.2948A>G, XM_024449596.2:c.2906A>C, XM_024449596.2:c.2906A>G, XM_024449596.1:c.2906A>C, XM_024449596.1:c.2906A>G, XM_024449597.2:c.2948A>C, XM_024449597.2:c.2948A>G, XM_024449597.1:c.2948A>C, XM_024449597.1:c.2948A>G, XM_017021314.2:c.1124A>C, XM_017021314.2:c.1124A>G, XM_017021314.1:c.1124A>C, XM_017021314.1:c.1124A>G, XM_017021316.2:c.1088A>C, XM_017021316.2:c.1088A>G, XM_017021316.1:c.1088A>C, XM_017021316.1:c.1088A>G, XM_017021330.2:c.1037A>C, XM_017021330.2:c.1037A>G, XM_017021330.1:c.1037A>C, XM_017021330.1:c.1037A>G, XM_024449598.2:c.884A>C, XM_024449598.2:c.884A>G, XM_024449598.1:c.884A>C, XM_024449598.1:c.884A>G, XM_017021318.2:c.1037A>C, XM_017021318.2:c.1037A>G, XM_017021318.1:c.1037A>C, XM_017021318.1:c.1037A>G, XM_017021319.2:c.1037A>C, XM_017021319.2:c.1037A>G, XM_017021319.1:c.1037A>C, XM_017021319.1:c.1037A>G, XM_017021323.2:c.884A>C, XM_017021323.2:c.884A>G, XM_017021323.1:c.884A>C, XM_017021323.1:c.884A>G, XM_047431399.1:c.2624A>C, XM_047431399.1:c.2624A>G, XM_047431398.1:c.2921A>C, XM_047431398.1:c.2921A>G, XM_047431401.1:c.2921A>C, XM_047431401.1:c.2921A>G, NM_203357.1:c.857A>C, NM_203357.1:c.857A>G, XM_047431403.1:c.1061A>C, XM_047431403.1:c.1061A>G, XM_047431405.1:c.1022A>C, XM_047431405.1:c.1022A>G, XM_047431406.1:c.1010A>C, XM_047431406.1:c.1010A>G, XM_047431407.1:c.1097A>C, XM_047431407.1:c.1097A>G, XM_047431409.1:c.1061A>C, XM_047431409.1:c.1061A>G, XM_047431410.1:c.884A>C, XM_047431410.1:c.884A>G, XM_047431411.1:c.995A>C, XM_047431411.1:c.995A>G, XM_047431408.1:c.1064A>C, XM_047431408.1:c.1064A>G, XM_047431412.1:c.1082A>C, XM_047431412.1:c.1082A>G, NP_001316143.1:p.Gln969Pro, NP_001316143.1:p.Gln969Arg, NP_005921.2:p.Gln361Pro, NP_005921.2:p.Gln361Arg, NP_976229.1:p.Gln349Pro, NP_976229.1:p.Gln349Arg, NP_976230.1:p.Gln361Pro, NP_976230.1:p.Gln361Arg, NP_001341081.1:p.Gln370Pro, NP_001341081.1:p.Gln370Arg, NP_001341083.1:p.Gln361Pro, NP_001341083.1:p.Gln361Arg, NP_001341084.1:p.Gln361Pro, NP_001341084.1:p.Gln361Arg, NP_001341074.1:p.Gln281Pro, NP_001341074.1:p.Gln281Arg, NP_001341080.1:p.Gln370Pro, NP_001341080.1:p.Gln370Arg, NP_001234918.1:p.Gln366Pro, NP_001234918.1:p.Gln366Arg, NP_001341066.1:p.Gln332Pro, NP_001341066.1:p.Gln332Arg, NP_001341069.1:p.Gln281Pro, NP_001341069.1:p.Gln281Arg, NP_001341079.1:p.Gln355Pro, NP_001341079.1:p.Gln355Arg, NP_001341086.1:p.Gln335Pro, NP_001341086.1:p.Gln335Arg, NP_001234919.1:p.Gln286Pro, NP_001234919.1:p.Gln286Arg, NP_001341070.1:p.Gln281Pro, NP_001341070.1:p.Gln281Arg, NP_976231.1:p.Gln332Pro, NP_976231.1:p.Gln332Arg, NP_001341075.1:p.Gln349Pro, NP_001341075.1:p.Gln349Arg, NP_001341068.1:p.Gln332Pro, NP_001341068.1:p.Gln332Arg, NP_001341085.1:p.Gln255Pro, NP_001341085.1:p.Gln255Arg, NP_001341082.1:p.Gln335Pro, NP_001341082.1:p.Gln335Arg, NP_001341073.1:p.Gln281Pro, NP_001341073.1:p.Gln281Arg, NP_001341077.1:p.Gln332Pro, NP_001341077.1:p.Gln332Arg, NP_001341076.1:p.Gln306Pro, NP_001341076.1:p.Gln306Arg, NP_001234917.1:p.Gln332Pro, NP_001234917.1:p.Gln332Arg, NP_001341067.1:p.Gln332Pro, NP_001341067.1:p.Gln332Arg, NP_001341078.1:p.Gln306Pro, NP_001341078.1:p.Gln306Arg, NP_001341071.1:p.Gln281Pro, NP_001341071.1:p.Gln281Arg, NP_001341072.1:p.Gln281Pro, NP_001341072.1:p.Gln281Arg, XP_016876806.1:p.Gln346Pro, XP_016876806.1:p.Gln346Arg, XP_011535080.1:p.Gln358Pro, XP_011535080.1:p.Gln358Arg, XP_016876804.1:p.Gln369Pro, XP_016876804.1:p.Gln369Arg, XP_016876813.1:p.Gln295Pro, XP_016876813.1:p.Gln295Arg, XP_024305360.1:p.Gln983Pro, XP_024305360.1:p.Gln983Arg, XP_024305361.1:p.Gln978Pro, XP_024305361.1:p.Gln978Arg, XP_024305362.1:p.Gln974Pro, XP_024305362.1:p.Gln974Arg, XP_024305363.1:p.Gln983Pro, XP_024305363.1:p.Gln983Arg, XP_024305364.1:p.Gln969Pro, XP_024305364.1:p.Gln969Arg, XP_024305365.1:p.Gln983Pro, XP_024305365.1:p.Gln983Arg, XP_016876803.1:p.Gln375Pro, XP_016876803.1:p.Gln375Arg, XP_016876805.1:p.Gln363Pro, XP_016876805.1:p.Gln363Arg, XP_016876819.1:p.Gln346Pro, XP_016876819.1:p.Gln346Arg, XP_024305366.1:p.Gln295Pro, XP_024305366.1:p.Gln295Arg, XP_016876807.1:p.Gln346Pro, XP_016876807.1:p.Gln346Arg, XP_016876808.1:p.Gln346Pro, XP_016876808.1:p.Gln346Arg, XP_016876812.1:p.Gln295Pro, XP_016876812.1:p.Gln295Arg, XP_047287355.1:p.Gln875Pro, XP_047287355.1:p.Gln875Arg, XP_047287354.1:p.Gln974Pro, XP_047287354.1:p.Gln974Arg, XP_047287357.1:p.Gln974Pro, XP_047287357.1:p.Gln974Arg, XP_047287359.1:p.Gln354Pro, XP_047287359.1:p.Gln354Arg, XP_047287361.1:p.Gln341Pro, XP_047287361.1:p.Gln341Arg, XP_047287362.1:p.Gln337Pro, XP_047287362.1:p.Gln337Arg, XP_047287363.1:p.Gln366Pro, XP_047287363.1:p.Gln366Arg, XP_047287365.1:p.Gln354Pro, XP_047287365.1:p.Gln354Arg, XP_047287366.1:p.Gln295Pro, XP_047287366.1:p.Gln295Arg, XP_047287367.1:p.Gln332Pro, XP_047287367.1:p.Gln332Arg, XP_047287364.1:p.Gln355Pro, XP_047287364.1:p.Gln355Arg, XP_047287368.1:p.Gln361Pro, XP_047287368.1:p.Gln361Arg

                      11.

                      rs1479581601 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        14:39294022 (GRCh38)
                        14:39763226 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:39294021:T:C
                        Gene:
                        MIA2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0.000028/1 (ALFA)
                        C=0.000014/2 (GnomAD)
                        HGVS:
                        NC_000014.9:g.39294022T>C, NC_000014.8:g.39763226T>C, NG_030349.3:g.65102T>C, NM_001329214.4:c.2342T>C, NM_001329214.3:c.2342T>C, NM_001329214.2:c.2342T>C, NM_001329214.1:c.2342T>C, NM_005930.4:c.518T>C, NM_005930.3:c.518T>C, NM_203354.3:c.482T>C, NM_203354.2:c.482T>C, NM_203355.3:c.518T>C, NM_203355.2:c.518T>C, NM_001354152.3:c.545T>C, NM_001354152.2:c.545T>C, NM_001354152.1:c.545T>C, NM_001354154.2:c.518T>C, NM_001354154.1:c.518T>C, NM_001354155.2:c.518T>C, NM_001354155.1:c.518T>C, NM_001354145.2:c.278T>C, NM_001354145.1:c.278T>C, NR_148722.2:n.593T>C, NR_148722.1:n.854T>C, NM_001354151.2:c.545T>C, NM_001354151.1:c.545T>C, NM_001247989.2:c.533T>C, NM_001247989.1:c.533T>C, NM_001354137.2:c.431T>C, NM_001354137.1:c.431T>C, NM_001354140.2:c.278T>C, NM_001354140.1:c.278T>C, NR_148723.2:n.483T>C, NR_148723.1:n.744T>C, NM_001354150.2:c.500T>C, NM_001354150.1:c.500T>C, NM_001354157.2:c.440T>C, NM_001354157.1:c.440T>C, NM_001247990.2:c.293T>C, NM_001247990.1:c.293T>C, NM_001354141.2:c.278T>C, NM_001354141.1:c.278T>C, NM_203356.2:c.431T>C, NM_001354146.2:c.482T>C, NM_001354146.1:c.482T>C, NM_001354139.2:c.431T>C, NM_001354139.1:c.431T>C, NM_001354156.2:c.200T>C, NM_001354156.1:c.200T>C, NM_001354153.2:c.440T>C, NM_001354153.1:c.440T>C, NM_001354144.2:c.278T>C, NM_001354144.1:c.278T>C, NM_001354148.1:c.431T>C, NM_001354147.1:c.353T>C, NR_148721.1:n.685T>C, NM_001247988.1:c.431T>C, NM_001354138.1:c.431T>C, NM_001354149.1:c.353T>C, NM_001354142.1:c.278T>C, NM_001354143.1:c.278T>C, XM_017021317.3:c.473T>C, XM_017021317.2:c.473T>C, XM_017021317.1:c.473T>C, XM_011536778.3:c.509T>C, XM_011536778.2:c.509T>C, XM_011536778.1:c.509T>C, XM_017021315.3:c.542T>C, XM_017021315.2:c.542T>C, XM_017021315.1:c.542T>C, XM_017021324.3:c.320T>C, XM_017021324.2:c.320T>C, XM_017021324.1:c.320T>C, XM_024449592.2:c.2384T>C, XM_024449592.1:c.2384T>C, XM_024449593.2:c.2369T>C, XM_024449593.1:c.2369T>C, XM_024449594.2:c.2357T>C, XM_024449594.1:c.2357T>C, XM_024449595.2:c.2384T>C, XM_024449595.1:c.2384T>C, XM_024449596.2:c.2342T>C, XM_024449596.1:c.2342T>C, XM_024449597.2:c.2384T>C, XM_024449597.1:c.2384T>C, XM_017021314.2:c.560T>C, XM_017021314.1:c.560T>C, XM_017021316.2:c.524T>C, XM_017021316.1:c.524T>C, XM_017021330.2:c.473T>C, XM_017021330.1:c.473T>C, XM_024449598.2:c.320T>C, XM_024449598.1:c.320T>C, XM_017021318.2:c.473T>C, XM_017021318.1:c.473T>C, XM_017021319.2:c.473T>C, XM_017021319.1:c.473T>C, XM_017021323.2:c.320T>C, XM_017021323.1:c.320T>C, XM_047431399.1:c.2060T>C, XM_047431398.1:c.2357T>C, XM_047431401.1:c.2357T>C, NM_203357.1:c.293T>C, XM_047431403.1:c.497T>C, XM_047431405.1:c.458T>C, XM_047431406.1:c.446T>C, XM_047431407.1:c.533T>C, XM_047431409.1:c.497T>C, XM_047431410.1:c.320T>C, XM_047431411.1:c.431T>C, XM_047431408.1:c.500T>C, XM_047431402.1:c.2384T>C, XM_047431412.1:c.518T>C, NP_001316143.1:p.Ile781Thr, NP_005921.2:p.Ile173Thr, NP_976229.1:p.Ile161Thr, NP_976230.1:p.Ile173Thr, NP_001341081.1:p.Ile182Thr, NP_001341083.1:p.Ile173Thr, NP_001341084.1:p.Ile173Thr, NP_001341074.1:p.Ile93Thr, NP_001341080.1:p.Ile182Thr, NP_001234918.1:p.Ile178Thr, NP_001341066.1:p.Ile144Thr, NP_001341069.1:p.Ile93Thr, NP_001341079.1:p.Ile167Thr, NP_001341086.1:p.Ile147Thr, NP_001234919.1:p.Ile98Thr, NP_001341070.1:p.Ile93Thr, NP_976231.1:p.Ile144Thr, NP_001341075.1:p.Ile161Thr, NP_001341068.1:p.Ile144Thr, NP_001341085.1:p.Ile67Thr, NP_001341082.1:p.Ile147Thr, NP_001341073.1:p.Ile93Thr, NP_001341077.1:p.Ile144Thr, NP_001341076.1:p.Ile118Thr, NP_001234917.1:p.Ile144Thr, NP_001341067.1:p.Ile144Thr, NP_001341078.1:p.Ile118Thr, NP_001341071.1:p.Ile93Thr, NP_001341072.1:p.Ile93Thr, XP_016876806.1:p.Ile158Thr, XP_011535080.1:p.Ile170Thr, XP_016876804.1:p.Ile181Thr, XP_016876813.1:p.Ile107Thr, XP_024305360.1:p.Ile795Thr, XP_024305361.1:p.Ile790Thr, XP_024305362.1:p.Ile786Thr, XP_024305363.1:p.Ile795Thr, XP_024305364.1:p.Ile781Thr, XP_024305365.1:p.Ile795Thr, XP_016876803.1:p.Ile187Thr, XP_016876805.1:p.Ile175Thr, XP_016876819.1:p.Ile158Thr, XP_024305366.1:p.Ile107Thr, XP_016876807.1:p.Ile158Thr, XP_016876808.1:p.Ile158Thr, XP_016876812.1:p.Ile107Thr, XP_047287355.1:p.Ile687Thr, XP_047287354.1:p.Ile786Thr, XP_047287357.1:p.Ile786Thr, XP_047287359.1:p.Ile166Thr, XP_047287361.1:p.Ile153Thr, XP_047287362.1:p.Ile149Thr, XP_047287363.1:p.Ile178Thr, XP_047287365.1:p.Ile166Thr, XP_047287366.1:p.Ile107Thr, XP_047287367.1:p.Ile144Thr, XP_047287364.1:p.Ile167Thr, XP_047287358.1:p.Ile795Thr, XP_047287368.1:p.Ile173Thr

                        12.

                        rs1479100674 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:39319251 (GRCh38)
                          14:39788455 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:39319250:T:C
                          Gene:
                          MIA2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000028/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000008/2 (TOPMED)
                          C=0.000021/3 (GnomAD)
                          HGVS:
                          NC_000014.9:g.39319251T>C, NC_000014.8:g.39788455T>C, NG_030349.3:g.90331T>C, NM_001329214.4:c.3327T>C, NM_001329214.3:c.3327T>C, NM_001329214.2:c.3327T>C, NM_001329214.1:c.3327T>C, NM_005930.4:c.1503T>C, NM_005930.3:c.1503T>C, NM_203354.3:c.1467T>C, NM_203354.2:c.1467T>C, NM_203355.3:c.1503T>C, NM_203355.2:c.1503T>C, NM_001354152.3:c.1530T>C, NM_001354152.2:c.1530T>C, NM_001354152.1:c.1530T>C, NM_001354154.2:c.1503T>C, NM_001354154.1:c.1503T>C, NM_001354155.2:c.1503T>C, NM_001354155.1:c.1503T>C, NM_001354145.2:c.1263T>C, NM_001354145.1:c.1263T>C, NR_148722.2:n.1614T>C, NR_148722.1:n.1875T>C, NM_001354151.2:c.1530T>C, NM_001354151.1:c.1530T>C, NM_001247989.2:c.1518T>C, NM_001247989.1:c.1518T>C, NM_001354137.2:c.1416T>C, NM_001354137.1:c.1416T>C, NM_001354140.2:c.1263T>C, NM_001354140.1:c.1263T>C, NR_148723.2:n.1504T>C, NR_148723.1:n.1765T>C, NM_001354150.2:c.1485T>C, NM_001354150.1:c.1485T>C, NM_001354157.2:c.1425T>C, NM_001354157.1:c.1425T>C, NM_001247990.2:c.1278T>C, NM_001247990.1:c.1278T>C, NM_001354141.2:c.1263T>C, NM_001354141.1:c.1263T>C, NM_203356.2:c.1416T>C, NM_001354146.2:c.1467T>C, NM_001354146.1:c.1467T>C, NM_001354139.2:c.1416T>C, NM_001354139.1:c.1416T>C, NM_001354156.2:c.1185T>C, NM_001354156.1:c.1185T>C, NM_001354153.2:c.1425T>C, NM_001354153.1:c.1425T>C, NM_001354144.2:c.1263T>C, NM_001354144.1:c.1263T>C, NM_001354148.1:c.1416T>C, NM_001354147.1:c.1338T>C, NR_148721.1:n.1706T>C, NM_001247988.1:c.1416T>C, NM_001354138.1:c.1416T>C, NM_001354149.1:c.1338T>C, NM_001354142.1:c.1263T>C, NM_001354143.1:c.1263T>C, XM_017021317.3:c.1458T>C, XM_017021317.2:c.1458T>C, XM_017021317.1:c.1458T>C, XM_011536778.3:c.1494T>C, XM_011536778.2:c.1494T>C, XM_011536778.1:c.1494T>C, XM_017021315.3:c.1527T>C, XM_017021315.2:c.1527T>C, XM_017021315.1:c.1527T>C, XM_017021324.3:c.1305T>C, XM_017021324.2:c.1305T>C, XM_017021324.1:c.1305T>C, XM_024449592.2:c.3369T>C, XM_024449592.1:c.3369T>C, XM_024449593.2:c.3354T>C, XM_024449593.1:c.3354T>C, XM_024449594.2:c.3342T>C, XM_024449594.1:c.3342T>C, XM_024449595.2:c.3369T>C, XM_024449595.1:c.3369T>C, XM_024449596.2:c.3327T>C, XM_024449596.1:c.3327T>C, XM_024449597.2:c.3369T>C, XM_024449597.1:c.3369T>C, XM_017021314.2:c.1545T>C, XM_017021314.1:c.1545T>C, XM_017021316.2:c.1509T>C, XM_017021316.1:c.1509T>C, XM_017021330.2:c.1458T>C, XM_017021330.1:c.1458T>C, XM_024449598.2:c.1305T>C, XM_024449598.1:c.1305T>C, XM_017021318.2:c.1458T>C, XM_017021318.1:c.1458T>C, XM_017021319.2:c.1458T>C, XM_017021319.1:c.1458T>C, XM_017021323.2:c.1305T>C, XM_017021323.1:c.1305T>C, XM_047431399.1:c.3045T>C, XM_047431398.1:c.3342T>C, XM_047431401.1:c.3342T>C, NM_203357.1:c.1278T>C, XM_047431403.1:c.1482T>C, XM_047431405.1:c.1443T>C, XM_047431406.1:c.1431T>C, XM_047431407.1:c.1518T>C, XM_047431409.1:c.1482T>C, XM_047431410.1:c.1305T>C, XM_047431411.1:c.1416T>C, XM_047431408.1:c.1485T>C, XM_047431412.1:c.1503T>C

                          13.

                          rs1474339628 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            C>- [Show Flanks]
                            Chromosome:
                            14:39348786 (GRCh38)
                            14:39817990 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:39348785:CC:C
                            Gene:
                            MIA2 (Varview)
                            Functional Consequence:
                            frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            CC=0./0 (ALFA)
                            -=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000014.9:g.39348787del, NC_000014.8:g.39817991del, NG_030349.3:g.119867del, NM_001329214.4:c.3882del, NM_001329214.3:c.3882del, NM_001329214.2:c.3882del, NM_001329214.1:c.3882del, NM_005930.4:c.2058del, NM_005930.3:c.2058del, NM_203354.3:c.2022del, NM_203354.2:c.2022del, NM_203355.3:c.1929del, NM_203355.2:c.1929del, NM_001354152.3:c.1956del, NM_001354152.2:c.1956del, NM_001354152.1:c.1956del, NM_001354154.2:c.2058del, NM_001354154.1:c.2058del, NM_001354155.2:c.1929del, NM_001354155.1:c.1929del, NM_001354145.2:c.1689del, NM_001354145.1:c.1689del, NR_148722.2:n.2169del, NR_148722.1:n.2430del, NM_001354151.2:c.2085del, NM_001354151.1:c.2085del, NM_001247989.2:c.2073del, NM_001247989.1:c.2073del, NM_001354137.2:c.1971del, NM_001354137.1:c.1971del, NM_001354140.2:c.1818del, NM_001354140.1:c.1818del, NR_148723.2:n.2059del, NR_148723.1:n.2320del, NM_001354150.2:c.2040del, NM_001354150.1:c.2040del, NM_001354157.2:c.1980del, NM_001354157.1:c.1980del, NM_001247990.2:c.1833del, NM_001247990.1:c.1833del, NM_001354141.2:c.1818del, NM_001354141.1:c.1818del, NM_203356.2:c.1971del, NM_001354146.2:c.1893del, NM_001354146.1:c.1893del, NM_001354139.2:c.1842del, NM_001354139.1:c.1842del, NM_001354156.2:c.1740del, NM_001354156.1:c.1740del, NM_001354153.2:c.1851del, NM_001354153.1:c.1851del, NM_001354144.2:c.1689del, NM_001354144.1:c.1689del, NM_001354148.1:c.1971del, NM_001354147.1:c.1893del, NR_148721.1:n.2132del, NM_001247988.1:c.1842del, NM_001354138.1:c.1971del, NM_001354149.1:c.1764del, NM_001354142.1:c.1689del, NM_001354143.1:c.1689del, XM_017021317.3:c.2013del, XM_017021317.2:c.2013del, XM_017021317.1:c.2013del, XM_011536778.3:c.2049del, XM_011536778.2:c.2049del, XM_011536778.1:c.2049del, XM_017021315.3:c.2082del, XM_017021315.2:c.2082del, XM_017021315.1:c.2082del, XM_017021324.3:c.1860del, XM_017021324.2:c.1860del, XM_017021324.1:c.1860del, XM_024449592.2:c.3924del, XM_024449592.1:c.3924del, XM_024449593.2:c.3909del, XM_024449593.1:c.3909del, XM_024449594.2:c.3897del, XM_024449594.1:c.3897del, XM_024449595.2:c.3795del, XM_024449595.1:c.3795del, XM_024449596.2:c.3753del, XM_024449596.1:c.3753del, XM_017021314.2:c.2100del, XM_017021314.1:c.2100del, XM_017021316.2:c.2064del, XM_017021316.1:c.2064del, XM_017021330.2:c.2013del, XM_017021330.1:c.2013del, XM_024449598.2:c.1860del, XM_024449598.1:c.1860del, XM_017021318.2:c.2013del, XM_017021318.1:c.2013del, XM_017021319.2:c.2013del, XM_017021319.1:c.2013del, XM_017021323.2:c.1860del, XM_017021323.1:c.1860del, XM_047431399.1:c.3600del, XM_047431398.1:c.3768del, NM_203357.1:c.1833del, XM_047431403.1:c.2037del, XM_047431405.1:c.1998del, XM_047431406.1:c.1986del, XM_047431407.1:c.1944del, XM_047431409.1:c.1908del, XM_047431410.1:c.1860del, XM_047431411.1:c.1842del, XM_047431408.1:c.1911del, NP_001316143.1:p.Thr1295fs, NP_005921.2:p.Thr687fs, NP_976229.1:p.Thr675fs, NP_976230.1:p.Thr644fs, NP_001341081.1:p.Thr653fs, NP_001341083.1:p.Thr687fs, NP_001341084.1:p.Thr644fs, NP_001341074.1:p.Thr564fs, NP_001341080.1:p.Thr696fs, NP_001234918.1:p.Thr692fs, NP_001341066.1:p.Thr658fs, NP_001341069.1:p.Thr607fs, NP_001341079.1:p.Thr681fs, NP_001341086.1:p.Thr661fs, NP_001234919.1:p.Thr612fs, NP_001341070.1:p.Thr607fs, NP_976231.1:p.Thr658fs, NP_001341075.1:p.Thr632fs, NP_001341068.1:p.Thr615fs, NP_001341085.1:p.Thr581fs, NP_001341082.1:p.Thr618fs, NP_001341073.1:p.Thr564fs, NP_001341077.1:p.Thr658fs, NP_001341076.1:p.Thr632fs, NP_001234917.1:p.Thr615fs, NP_001341067.1:p.Thr658fs, NP_001341078.1:p.Thr589fs, NP_001341071.1:p.Thr564fs, NP_001341072.1:p.Thr564fs, XP_016876806.1:p.Thr672fs, XP_011535080.1:p.Thr684fs, XP_016876804.1:p.Thr695fs, XP_016876813.1:p.Thr621fs, XP_024305360.1:p.Thr1309fs, XP_024305361.1:p.Thr1304fs, XP_024305362.1:p.Thr1300fs, XP_024305363.1:p.Thr1266fs, XP_024305364.1:p.Thr1252fs, XP_016876803.1:p.Thr701fs, XP_016876805.1:p.Thr689fs, XP_016876819.1:p.Thr672fs, XP_024305366.1:p.Thr621fs, XP_016876807.1:p.Thr672fs, XP_016876808.1:p.Thr672fs, XP_016876812.1:p.Thr621fs, XP_047287355.1:p.Thr1201fs, XP_047287354.1:p.Thr1257fs, XP_047287359.1:p.Thr680fs, XP_047287361.1:p.Thr667fs, XP_047287362.1:p.Thr663fs, XP_047287363.1:p.Thr649fs, XP_047287365.1:p.Thr637fs, XP_047287366.1:p.Thr621fs, XP_047287367.1:p.Thr615fs, XP_047287364.1:p.Thr638fs

                            14.

                            rs1474198451 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              14:39313395 (GRCh38)
                              14:39782599 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:39313394:G:A
                              Gene:
                              MIA2 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000014.9:g.39313395G>A, NC_000014.8:g.39782599G>A, NG_030349.3:g.84475G>A, NM_001329214.4:c.3073G>A, NM_001329214.3:c.3073G>A, NM_001329214.2:c.3073G>A, NM_001329214.1:c.3073G>A, NM_005930.4:c.1249G>A, NM_005930.3:c.1249G>A, NM_203354.3:c.1213G>A, NM_203354.2:c.1213G>A, NM_203355.3:c.1249G>A, NM_203355.2:c.1249G>A, NM_001354152.3:c.1276G>A, NM_001354152.2:c.1276G>A, NM_001354152.1:c.1276G>A, NM_001354154.2:c.1249G>A, NM_001354154.1:c.1249G>A, NM_001354155.2:c.1249G>A, NM_001354155.1:c.1249G>A, NM_001354145.2:c.1009G>A, NM_001354145.1:c.1009G>A, NR_148722.2:n.1360G>A, NR_148722.1:n.1621G>A, NM_001354151.2:c.1276G>A, NM_001354151.1:c.1276G>A, NM_001247989.2:c.1264G>A, NM_001247989.1:c.1264G>A, NM_001354137.2:c.1162G>A, NM_001354137.1:c.1162G>A, NM_001354140.2:c.1009G>A, NM_001354140.1:c.1009G>A, NR_148723.2:n.1250G>A, NR_148723.1:n.1511G>A, NM_001354150.2:c.1231G>A, NM_001354150.1:c.1231G>A, NM_001354157.2:c.1171G>A, NM_001354157.1:c.1171G>A, NM_001247990.2:c.1024G>A, NM_001247990.1:c.1024G>A, NM_001354141.2:c.1009G>A, NM_001354141.1:c.1009G>A, NM_203356.2:c.1162G>A, NM_001354146.2:c.1213G>A, NM_001354146.1:c.1213G>A, NM_001354139.2:c.1162G>A, NM_001354139.1:c.1162G>A, NM_001354156.2:c.931G>A, NM_001354156.1:c.931G>A, NM_001354153.2:c.1171G>A, NM_001354153.1:c.1171G>A, NM_001354144.2:c.1009G>A, NM_001354144.1:c.1009G>A, NM_001354148.1:c.1162G>A, NM_001354147.1:c.1084G>A, NR_148721.1:n.1452G>A, NM_001247988.1:c.1162G>A, NM_001354138.1:c.1162G>A, NM_001354149.1:c.1084G>A, NM_001354142.1:c.1009G>A, NM_001354143.1:c.1009G>A, XM_017021317.3:c.1204G>A, XM_017021317.2:c.1204G>A, XM_017021317.1:c.1204G>A, XM_011536778.3:c.1240G>A, XM_011536778.2:c.1240G>A, XM_011536778.1:c.1240G>A, XM_017021315.3:c.1273G>A, XM_017021315.2:c.1273G>A, XM_017021315.1:c.1273G>A, XM_017021324.3:c.1051G>A, XM_017021324.2:c.1051G>A, XM_017021324.1:c.1051G>A, XM_024449592.2:c.3115G>A, XM_024449592.1:c.3115G>A, XM_024449593.2:c.3100G>A, XM_024449593.1:c.3100G>A, XM_024449594.2:c.3088G>A, XM_024449594.1:c.3088G>A, XM_024449595.2:c.3115G>A, XM_024449595.1:c.3115G>A, XM_024449596.2:c.3073G>A, XM_024449596.1:c.3073G>A, XM_024449597.2:c.3115G>A, XM_024449597.1:c.3115G>A, XM_017021314.2:c.1291G>A, XM_017021314.1:c.1291G>A, XM_017021316.2:c.1255G>A, XM_017021316.1:c.1255G>A, XM_017021330.2:c.1204G>A, XM_017021330.1:c.1204G>A, XM_024449598.2:c.1051G>A, XM_024449598.1:c.1051G>A, XM_017021318.2:c.1204G>A, XM_017021318.1:c.1204G>A, XM_017021319.2:c.1204G>A, XM_017021319.1:c.1204G>A, XM_017021323.2:c.1051G>A, XM_017021323.1:c.1051G>A, XM_047431399.1:c.2791G>A, XM_047431398.1:c.3088G>A, XM_047431401.1:c.3088G>A, NM_203357.1:c.1024G>A, XM_047431403.1:c.1228G>A, XM_047431405.1:c.1189G>A, XM_047431406.1:c.1177G>A, XM_047431407.1:c.1264G>A, XM_047431409.1:c.1228G>A, XM_047431410.1:c.1051G>A, XM_047431411.1:c.1162G>A, XM_047431408.1:c.1231G>A, XM_047431412.1:c.1249G>A, NP_001316143.1:p.Val1025Ile, NP_005921.2:p.Val417Ile, NP_976229.1:p.Val405Ile, NP_976230.1:p.Val417Ile, NP_001341081.1:p.Val426Ile, NP_001341083.1:p.Val417Ile, NP_001341084.1:p.Val417Ile, NP_001341074.1:p.Val337Ile, NP_001341080.1:p.Val426Ile, NP_001234918.1:p.Val422Ile, NP_001341066.1:p.Val388Ile, NP_001341069.1:p.Val337Ile, NP_001341079.1:p.Val411Ile, NP_001341086.1:p.Val391Ile, NP_001234919.1:p.Val342Ile, NP_001341070.1:p.Val337Ile, NP_976231.1:p.Val388Ile, NP_001341075.1:p.Val405Ile, NP_001341068.1:p.Val388Ile, NP_001341085.1:p.Val311Ile, NP_001341082.1:p.Val391Ile, NP_001341073.1:p.Val337Ile, NP_001341077.1:p.Val388Ile, NP_001341076.1:p.Val362Ile, NP_001234917.1:p.Val388Ile, NP_001341067.1:p.Val388Ile, NP_001341078.1:p.Val362Ile, NP_001341071.1:p.Val337Ile, NP_001341072.1:p.Val337Ile, XP_016876806.1:p.Val402Ile, XP_011535080.1:p.Val414Ile, XP_016876804.1:p.Val425Ile, XP_016876813.1:p.Val351Ile, XP_024305360.1:p.Val1039Ile, XP_024305361.1:p.Val1034Ile, XP_024305362.1:p.Val1030Ile, XP_024305363.1:p.Val1039Ile, XP_024305364.1:p.Val1025Ile, XP_024305365.1:p.Val1039Ile, XP_016876803.1:p.Val431Ile, XP_016876805.1:p.Val419Ile, XP_016876819.1:p.Val402Ile, XP_024305366.1:p.Val351Ile, XP_016876807.1:p.Val402Ile, XP_016876808.1:p.Val402Ile, XP_016876812.1:p.Val351Ile, XP_047287355.1:p.Val931Ile, XP_047287354.1:p.Val1030Ile, XP_047287357.1:p.Val1030Ile, XP_047287359.1:p.Val410Ile, XP_047287361.1:p.Val397Ile, XP_047287362.1:p.Val393Ile, XP_047287363.1:p.Val422Ile, XP_047287365.1:p.Val410Ile, XP_047287366.1:p.Val351Ile, XP_047287367.1:p.Val388Ile, XP_047287364.1:p.Val411Ile, XP_047287368.1:p.Val417Ile

                              15.

                              rs1474090331 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AAG>- [Show Flanks]
                                Chromosome:
                                14:39277053 (GRCh38)
                                14:39746257 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:39277050:AGAAG:AG
                                Gene:
                                MIA2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,inframe_deletion,5_prime_UTR_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000014.9:g.39277053_39277055del, NC_000014.8:g.39746257_39746259del, NG_030349.3:g.48133_48135del, NM_001329214.4:c.2007_2009del, NM_001329214.3:c.2007_2009del, NM_001329214.2:c.2007_2009del, NM_001329214.1:c.2007_2009del, NM_005930.4:c.183_185del, NM_005930.3:c.183_185del, NM_203354.3:c.147_149del, NM_203354.2:c.147_149del, NM_203355.3:c.183_185del, NM_203355.2:c.183_185del, NM_001354152.3:c.183_185del, NM_001354152.2:c.183_185del, NM_001354152.1:c.183_185del, NM_001354154.2:c.183_185del, NM_001354154.1:c.183_185del, NM_001354155.2:c.183_185del, NM_001354155.1:c.183_185del, NR_148722.2:n.258_260del, NR_148722.1:n.519_521del, NM_001354151.2:c.183_185del, NM_001354151.1:c.183_185del, NM_001247989.2:c.183_185del, NM_001247989.1:c.183_185del, NM_001354137.2:c.96_98del, NM_001354137.1:c.96_98del, NM_001354140.2:c.-36_-34del, NM_001354140.1:c.-36_-34del, NM_001354150.2:c.165_167del, NM_001354150.1:c.165_167del, NM_001354157.2:c.183_185del, NM_001354157.1:c.183_185del, NM_203356.2:c.96_98del, NM_001354146.2:c.147_149del, NM_001354146.1:c.147_149del, NM_001354139.2:c.96_98del, NM_001354139.1:c.96_98del, NM_001354153.2:c.183_185del, NM_001354153.1:c.183_185del, NM_001354148.1:c.96_98del, NM_001354147.1:c.96_98del, NR_148721.1:n.350_352del, NM_001247988.1:c.96_98del, NM_001354138.1:c.96_98del, NM_001354149.1:c.96_98del, XM_017021317.3:c.96_98del, XM_017021317.2:c.96_98del, XM_017021317.1:c.96_98del, XM_011536778.3:c.147_149del, XM_011536778.2:c.147_149del, XM_011536778.1:c.147_149del, XM_017021315.3:c.165_167del, XM_017021315.2:c.165_167del, XM_017021315.1:c.165_167del, XM_024449592.2:c.2007_2009del, XM_024449592.1:c.2007_2009del, XM_024449593.2:c.2007_2009del, XM_024449593.1:c.2007_2009del, XM_024449594.2:c.2007_2009del, XM_024449594.1:c.2007_2009del, XM_024449595.2:c.2007_2009del, XM_024449595.1:c.2007_2009del, XM_024449596.2:c.2007_2009del, XM_024449596.1:c.2007_2009del, XM_024449597.2:c.2007_2009del, XM_024449597.1:c.2007_2009del, XM_017021314.2:c.183_185del, XM_017021314.1:c.183_185del, XM_017021316.2:c.147_149del, XM_017021316.1:c.147_149del, XM_017021330.2:c.96_98del, XM_017021330.1:c.96_98del, XM_017021318.2:c.96_98del, XM_017021318.1:c.96_98del, XM_017021319.2:c.96_98del, XM_017021319.1:c.96_98del, XM_047431399.1:c.1683_1685del, XM_047431398.1:c.2007_2009del, XM_047431401.1:c.2007_2009del, XM_047431403.1:c.147_149del, XM_047431405.1:c.96_98del, XM_047431406.1:c.96_98del, XM_047431407.1:c.183_185del, XM_047431409.1:c.147_149del, XM_047431411.1:c.96_98del, XM_047431408.1:c.165_167del, XM_047431402.1:c.2007_2009del, XM_047431412.1:c.183_185del, NP_001316143.1:p.Arg669del, NP_005921.2:p.Arg61del, NP_976229.1:p.Arg49del, NP_976230.1:p.Arg61del, NP_001341081.1:p.Arg61del, NP_001341083.1:p.Arg61del, NP_001341084.1:p.Arg61del, NP_001341080.1:p.Arg61del, NP_001234918.1:p.Arg61del, NP_001341066.1:p.Arg32del, NP_001341079.1:p.Arg55del, NP_001341086.1:p.Arg61del, NP_976231.1:p.Arg32del, NP_001341075.1:p.Arg49del, NP_001341068.1:p.Arg32del, NP_001341082.1:p.Arg61del, NP_001341077.1:p.Arg32del, NP_001341076.1:p.Arg32del, NP_001234917.1:p.Arg32del, NP_001341067.1:p.Arg32del, NP_001341078.1:p.Arg32del, XP_016876806.1:p.Arg32del, XP_011535080.1:p.Arg49del, XP_016876804.1:p.Arg55del, XP_024305360.1:p.Arg669del, XP_024305361.1:p.Arg669del, XP_024305362.1:p.Arg669del, XP_024305363.1:p.Arg669del, XP_024305364.1:p.Arg669del, XP_024305365.1:p.Arg669del, XP_016876803.1:p.Arg61del, XP_016876805.1:p.Arg49del, XP_016876819.1:p.Arg32del, XP_016876807.1:p.Arg32del, XP_016876808.1:p.Arg32del, XP_047287355.1:p.Arg561del, XP_047287354.1:p.Arg669del, XP_047287357.1:p.Arg669del, XP_047287359.1:p.Arg49del, XP_047287361.1:p.Arg32del, XP_047287362.1:p.Arg32del, XP_047287363.1:p.Arg61del, XP_047287365.1:p.Arg49del, XP_047287367.1:p.Arg32del, XP_047287364.1:p.Arg55del, XP_047287358.1:p.Arg669del, XP_047287368.1:p.Arg61del

                                16.

                                rs1474029755 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  14:39302245 (GRCh38)
                                  14:39771449 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:39302244:C:T
                                  Gene:
                                  MIA2 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  HGVS:
                                  NC_000014.9:g.39302245C>T, NC_000014.8:g.39771449C>T, NG_030349.3:g.73325C>T, NM_001329214.4:c.2736C>T, NM_001329214.3:c.2736C>T, NM_001329214.2:c.2736C>T, NM_001329214.1:c.2736C>T, NM_005930.4:c.912C>T, NM_005930.3:c.912C>T, NM_203354.3:c.876C>T, NM_203354.2:c.876C>T, NM_203355.3:c.912C>T, NM_203355.2:c.912C>T, NM_001354152.3:c.939C>T, NM_001354152.2:c.939C>T, NM_001354152.1:c.939C>T, NM_001354154.2:c.912C>T, NM_001354154.1:c.912C>T, NM_001354155.2:c.912C>T, NM_001354155.1:c.912C>T, NM_001354145.2:c.672C>T, NM_001354145.1:c.672C>T, NR_148722.2:n.987C>T, NR_148722.1:n.1248C>T, NM_001354151.2:c.939C>T, NM_001354151.1:c.939C>T, NM_001247989.2:c.927C>T, NM_001247989.1:c.927C>T, NM_001354137.2:c.825C>T, NM_001354137.1:c.825C>T, NM_001354140.2:c.672C>T, NM_001354140.1:c.672C>T, NR_148723.2:n.877C>T, NR_148723.1:n.1138C>T, NM_001354150.2:c.894C>T, NM_001354150.1:c.894C>T, NM_001354157.2:c.834C>T, NM_001354157.1:c.834C>T, NM_001247990.2:c.687C>T, NM_001247990.1:c.687C>T, NM_001354141.2:c.672C>T, NM_001354141.1:c.672C>T, NM_203356.2:c.825C>T, NM_001354146.2:c.876C>T, NM_001354146.1:c.876C>T, NM_001354139.2:c.825C>T, NM_001354139.1:c.825C>T, NM_001354156.2:c.594C>T, NM_001354156.1:c.594C>T, NM_001354153.2:c.834C>T, NM_001354153.1:c.834C>T, NM_001354144.2:c.672C>T, NM_001354144.1:c.672C>T, NM_001354148.1:c.825C>T, NM_001354147.1:c.747C>T, NR_148721.1:n.1079C>T, NM_001247988.1:c.825C>T, NM_001354138.1:c.825C>T, NM_001354149.1:c.747C>T, NM_001354142.1:c.672C>T, NM_001354143.1:c.672C>T, XM_017021317.3:c.867C>T, XM_017021317.2:c.867C>T, XM_017021317.1:c.867C>T, XM_011536778.3:c.903C>T, XM_011536778.2:c.903C>T, XM_011536778.1:c.903C>T, XM_017021315.3:c.936C>T, XM_017021315.2:c.936C>T, XM_017021315.1:c.936C>T, XM_017021324.3:c.714C>T, XM_017021324.2:c.714C>T, XM_017021324.1:c.714C>T, XM_024449592.2:c.2778C>T, XM_024449592.1:c.2778C>T, XM_024449593.2:c.2763C>T, XM_024449593.1:c.2763C>T, XM_024449594.2:c.2751C>T, XM_024449594.1:c.2751C>T, XM_024449595.2:c.2778C>T, XM_024449595.1:c.2778C>T, XM_024449596.2:c.2736C>T, XM_024449596.1:c.2736C>T, XM_024449597.2:c.2778C>T, XM_024449597.1:c.2778C>T, XM_017021314.2:c.954C>T, XM_017021314.1:c.954C>T, XM_017021316.2:c.918C>T, XM_017021316.1:c.918C>T, XM_017021330.2:c.867C>T, XM_017021330.1:c.867C>T, XM_024449598.2:c.714C>T, XM_024449598.1:c.714C>T, XM_017021318.2:c.867C>T, XM_017021318.1:c.867C>T, XM_017021319.2:c.867C>T, XM_017021319.1:c.867C>T, XM_017021323.2:c.714C>T, XM_017021323.1:c.714C>T, XM_047431399.1:c.2454C>T, XM_047431398.1:c.2751C>T, XM_047431401.1:c.2751C>T, NM_203357.1:c.687C>T, XM_047431403.1:c.891C>T, XM_047431405.1:c.852C>T, XM_047431406.1:c.840C>T, XM_047431407.1:c.927C>T, XM_047431409.1:c.891C>T, XM_047431410.1:c.714C>T, XM_047431411.1:c.825C>T, XM_047431408.1:c.894C>T, XM_047431402.1:c.2778C>T, XM_047431412.1:c.912C>T

                                  17.

                                  rs1473518716 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:39317998 (GRCh38)
                                    14:39787202 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:39317997:C:T
                                    Gene:
                                    MIA2 (Varview)
                                    Functional Consequence:
                                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                    HGVS:
                                    NC_000014.9:g.39317998C>T, NC_000014.8:g.39787202C>T, NG_030349.3:g.89078C>T, NM_001329214.4:c.3271C>T, NM_001329214.3:c.3271C>T, NM_001329214.2:c.3271C>T, NM_001329214.1:c.3271C>T, NM_005930.4:c.1447C>T, NM_005930.3:c.1447C>T, NM_203354.3:c.1411C>T, NM_203354.2:c.1411C>T, NM_203355.3:c.1447C>T, NM_203355.2:c.1447C>T, NM_001354152.3:c.1474C>T, NM_001354152.2:c.1474C>T, NM_001354152.1:c.1474C>T, NM_001354154.2:c.1447C>T, NM_001354154.1:c.1447C>T, NM_001354155.2:c.1447C>T, NM_001354155.1:c.1447C>T, NM_001354145.2:c.1207C>T, NM_001354145.1:c.1207C>T, NR_148722.2:n.1558C>T, NR_148722.1:n.1819C>T, NM_001354151.2:c.1474C>T, NM_001354151.1:c.1474C>T, NM_001247989.2:c.1462C>T, NM_001247989.1:c.1462C>T, NM_001354137.2:c.1360C>T, NM_001354137.1:c.1360C>T, NM_001354140.2:c.1207C>T, NM_001354140.1:c.1207C>T, NR_148723.2:n.1448C>T, NR_148723.1:n.1709C>T, NM_001354150.2:c.1429C>T, NM_001354150.1:c.1429C>T, NM_001354157.2:c.1369C>T, NM_001354157.1:c.1369C>T, NM_001247990.2:c.1222C>T, NM_001247990.1:c.1222C>T, NM_001354141.2:c.1207C>T, NM_001354141.1:c.1207C>T, NM_203356.2:c.1360C>T, NM_001354146.2:c.1411C>T, NM_001354146.1:c.1411C>T, NM_001354139.2:c.1360C>T, NM_001354139.1:c.1360C>T, NM_001354156.2:c.1129C>T, NM_001354156.1:c.1129C>T, NM_001354153.2:c.1369C>T, NM_001354153.1:c.1369C>T, NM_001354144.2:c.1207C>T, NM_001354144.1:c.1207C>T, NM_001354148.1:c.1360C>T, NM_001354147.1:c.1282C>T, NR_148721.1:n.1650C>T, NM_001247988.1:c.1360C>T, NM_001354138.1:c.1360C>T, NM_001354149.1:c.1282C>T, NM_001354142.1:c.1207C>T, NM_001354143.1:c.1207C>T, XM_017021317.3:c.1402C>T, XM_017021317.2:c.1402C>T, XM_017021317.1:c.1402C>T, XM_011536778.3:c.1438C>T, XM_011536778.2:c.1438C>T, XM_011536778.1:c.1438C>T, XM_017021315.3:c.1471C>T, XM_017021315.2:c.1471C>T, XM_017021315.1:c.1471C>T, XM_017021324.3:c.1249C>T, XM_017021324.2:c.1249C>T, XM_017021324.1:c.1249C>T, XM_024449592.2:c.3313C>T, XM_024449592.1:c.3313C>T, XM_024449593.2:c.3298C>T, XM_024449593.1:c.3298C>T, XM_024449594.2:c.3286C>T, XM_024449594.1:c.3286C>T, XM_024449595.2:c.3313C>T, XM_024449595.1:c.3313C>T, XM_024449596.2:c.3271C>T, XM_024449596.1:c.3271C>T, XM_024449597.2:c.3313C>T, XM_024449597.1:c.3313C>T, XM_017021314.2:c.1489C>T, XM_017021314.1:c.1489C>T, XM_017021316.2:c.1453C>T, XM_017021316.1:c.1453C>T, XM_017021330.2:c.1402C>T, XM_017021330.1:c.1402C>T, XM_024449598.2:c.1249C>T, XM_024449598.1:c.1249C>T, XM_017021318.2:c.1402C>T, XM_017021318.1:c.1402C>T, XM_017021319.2:c.1402C>T, XM_017021319.1:c.1402C>T, XM_017021323.2:c.1249C>T, XM_017021323.1:c.1249C>T, XM_047431399.1:c.2989C>T, XM_047431398.1:c.3286C>T, XM_047431401.1:c.3286C>T, NM_203357.1:c.1222C>T, XM_047431403.1:c.1426C>T, XM_047431405.1:c.1387C>T, XM_047431406.1:c.1375C>T, XM_047431407.1:c.1462C>T, XM_047431409.1:c.1426C>T, XM_047431410.1:c.1249C>T, XM_047431411.1:c.1360C>T, XM_047431408.1:c.1429C>T, XM_047431412.1:c.1447C>T, NP_001316143.1:p.His1091Tyr, NP_005921.2:p.His483Tyr, NP_976229.1:p.His471Tyr, NP_976230.1:p.His483Tyr, NP_001341081.1:p.His492Tyr, NP_001341083.1:p.His483Tyr, NP_001341084.1:p.His483Tyr, NP_001341074.1:p.His403Tyr, NP_001341080.1:p.His492Tyr, NP_001234918.1:p.His488Tyr, NP_001341066.1:p.His454Tyr, NP_001341069.1:p.His403Tyr, NP_001341079.1:p.His477Tyr, NP_001341086.1:p.His457Tyr, NP_001234919.1:p.His408Tyr, NP_001341070.1:p.His403Tyr, NP_976231.1:p.His454Tyr, NP_001341075.1:p.His471Tyr, NP_001341068.1:p.His454Tyr, NP_001341085.1:p.His377Tyr, NP_001341082.1:p.His457Tyr, NP_001341073.1:p.His403Tyr, NP_001341077.1:p.His454Tyr, NP_001341076.1:p.His428Tyr, NP_001234917.1:p.His454Tyr, NP_001341067.1:p.His454Tyr, NP_001341078.1:p.His428Tyr, NP_001341071.1:p.His403Tyr, NP_001341072.1:p.His403Tyr, XP_016876806.1:p.His468Tyr, XP_011535080.1:p.His480Tyr, XP_016876804.1:p.His491Tyr, XP_016876813.1:p.His417Tyr, XP_024305360.1:p.His1105Tyr, XP_024305361.1:p.His1100Tyr, XP_024305362.1:p.His1096Tyr, XP_024305363.1:p.His1105Tyr, XP_024305364.1:p.His1091Tyr, XP_024305365.1:p.His1105Tyr, XP_016876803.1:p.His497Tyr, XP_016876805.1:p.His485Tyr, XP_016876819.1:p.His468Tyr, XP_024305366.1:p.His417Tyr, XP_016876807.1:p.His468Tyr, XP_016876808.1:p.His468Tyr, XP_016876812.1:p.His417Tyr, XP_047287355.1:p.His997Tyr, XP_047287354.1:p.His1096Tyr, XP_047287357.1:p.His1096Tyr, XP_047287359.1:p.His476Tyr, XP_047287361.1:p.His463Tyr, XP_047287362.1:p.His459Tyr, XP_047287363.1:p.His488Tyr, XP_047287365.1:p.His476Tyr, XP_047287366.1:p.His417Tyr, XP_047287367.1:p.His454Tyr, XP_047287364.1:p.His477Tyr, XP_047287368.1:p.His483Tyr

                                    18.

                                    rs1473365349 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      14:39315707 (GRCh38)
                                      14:39784911 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:39315706:C:T
                                      Gene:
                                      MIA2 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000014.9:g.39315707C>T, NC_000014.8:g.39784911C>T, NG_030349.3:g.86787C>T, NM_001329214.4:c.3205C>T, NM_001329214.3:c.3205C>T, NM_001329214.2:c.3205C>T, NM_001329214.1:c.3205C>T, NM_005930.4:c.1381C>T, NM_005930.3:c.1381C>T, NM_203354.3:c.1345C>T, NM_203354.2:c.1345C>T, NM_203355.3:c.1381C>T, NM_203355.2:c.1381C>T, NM_001354152.3:c.1408C>T, NM_001354152.2:c.1408C>T, NM_001354152.1:c.1408C>T, NM_001354154.2:c.1381C>T, NM_001354154.1:c.1381C>T, NM_001354155.2:c.1381C>T, NM_001354155.1:c.1381C>T, NM_001354145.2:c.1141C>T, NM_001354145.1:c.1141C>T, NR_148722.2:n.1492C>T, NR_148722.1:n.1753C>T, NM_001354151.2:c.1408C>T, NM_001354151.1:c.1408C>T, NM_001247989.2:c.1396C>T, NM_001247989.1:c.1396C>T, NM_001354137.2:c.1294C>T, NM_001354137.1:c.1294C>T, NM_001354140.2:c.1141C>T, NM_001354140.1:c.1141C>T, NR_148723.2:n.1382C>T, NR_148723.1:n.1643C>T, NM_001354150.2:c.1363C>T, NM_001354150.1:c.1363C>T, NM_001354157.2:c.1303C>T, NM_001354157.1:c.1303C>T, NM_001247990.2:c.1156C>T, NM_001247990.1:c.1156C>T, NM_001354141.2:c.1141C>T, NM_001354141.1:c.1141C>T, NM_203356.2:c.1294C>T, NM_001354146.2:c.1345C>T, NM_001354146.1:c.1345C>T, NM_001354139.2:c.1294C>T, NM_001354139.1:c.1294C>T, NM_001354156.2:c.1063C>T, NM_001354156.1:c.1063C>T, NM_001354153.2:c.1303C>T, NM_001354153.1:c.1303C>T, NM_001354144.2:c.1141C>T, NM_001354144.1:c.1141C>T, NM_001354148.1:c.1294C>T, NM_001354147.1:c.1216C>T, NR_148721.1:n.1584C>T, NM_001247988.1:c.1294C>T, NM_001354138.1:c.1294C>T, NM_001354149.1:c.1216C>T, NM_001354142.1:c.1141C>T, NM_001354143.1:c.1141C>T, XM_017021317.3:c.1336C>T, XM_017021317.2:c.1336C>T, XM_017021317.1:c.1336C>T, XM_011536778.3:c.1372C>T, XM_011536778.2:c.1372C>T, XM_011536778.1:c.1372C>T, XM_017021315.3:c.1405C>T, XM_017021315.2:c.1405C>T, XM_017021315.1:c.1405C>T, XM_017021324.3:c.1183C>T, XM_017021324.2:c.1183C>T, XM_017021324.1:c.1183C>T, XM_024449592.2:c.3247C>T, XM_024449592.1:c.3247C>T, XM_024449593.2:c.3232C>T, XM_024449593.1:c.3232C>T, XM_024449594.2:c.3220C>T, XM_024449594.1:c.3220C>T, XM_024449595.2:c.3247C>T, XM_024449595.1:c.3247C>T, XM_024449596.2:c.3205C>T, XM_024449596.1:c.3205C>T, XM_024449597.2:c.3247C>T, XM_024449597.1:c.3247C>T, XM_017021314.2:c.1423C>T, XM_017021314.1:c.1423C>T, XM_017021316.2:c.1387C>T, XM_017021316.1:c.1387C>T, XM_017021330.2:c.1336C>T, XM_017021330.1:c.1336C>T, XM_024449598.2:c.1183C>T, XM_024449598.1:c.1183C>T, XM_017021318.2:c.1336C>T, XM_017021318.1:c.1336C>T, XM_017021319.2:c.1336C>T, XM_017021319.1:c.1336C>T, XM_017021323.2:c.1183C>T, XM_017021323.1:c.1183C>T, XM_047431399.1:c.2923C>T, XM_047431398.1:c.3220C>T, XM_047431401.1:c.3220C>T, NM_203357.1:c.1156C>T, XM_047431403.1:c.1360C>T, XM_047431405.1:c.1321C>T, XM_047431406.1:c.1309C>T, XM_047431407.1:c.1396C>T, XM_047431409.1:c.1360C>T, XM_047431410.1:c.1183C>T, XM_047431411.1:c.1294C>T, XM_047431408.1:c.1363C>T, XM_047431412.1:c.1381C>T, NP_001316143.1:p.His1069Tyr, NP_005921.2:p.His461Tyr, NP_976229.1:p.His449Tyr, NP_976230.1:p.His461Tyr, NP_001341081.1:p.His470Tyr, NP_001341083.1:p.His461Tyr, NP_001341084.1:p.His461Tyr, NP_001341074.1:p.His381Tyr, NP_001341080.1:p.His470Tyr, NP_001234918.1:p.His466Tyr, NP_001341066.1:p.His432Tyr, NP_001341069.1:p.His381Tyr, NP_001341079.1:p.His455Tyr, NP_001341086.1:p.His435Tyr, NP_001234919.1:p.His386Tyr, NP_001341070.1:p.His381Tyr, NP_976231.1:p.His432Tyr, NP_001341075.1:p.His449Tyr, NP_001341068.1:p.His432Tyr, NP_001341085.1:p.His355Tyr, NP_001341082.1:p.His435Tyr, NP_001341073.1:p.His381Tyr, NP_001341077.1:p.His432Tyr, NP_001341076.1:p.His406Tyr, NP_001234917.1:p.His432Tyr, NP_001341067.1:p.His432Tyr, NP_001341078.1:p.His406Tyr, NP_001341071.1:p.His381Tyr, NP_001341072.1:p.His381Tyr, XP_016876806.1:p.His446Tyr, XP_011535080.1:p.His458Tyr, XP_016876804.1:p.His469Tyr, XP_016876813.1:p.His395Tyr, XP_024305360.1:p.His1083Tyr, XP_024305361.1:p.His1078Tyr, XP_024305362.1:p.His1074Tyr, XP_024305363.1:p.His1083Tyr, XP_024305364.1:p.His1069Tyr, XP_024305365.1:p.His1083Tyr, XP_016876803.1:p.His475Tyr, XP_016876805.1:p.His463Tyr, XP_016876819.1:p.His446Tyr, XP_024305366.1:p.His395Tyr, XP_016876807.1:p.His446Tyr, XP_016876808.1:p.His446Tyr, XP_016876812.1:p.His395Tyr, XP_047287355.1:p.His975Tyr, XP_047287354.1:p.His1074Tyr, XP_047287357.1:p.His1074Tyr, XP_047287359.1:p.His454Tyr, XP_047287361.1:p.His441Tyr, XP_047287362.1:p.His437Tyr, XP_047287363.1:p.His466Tyr, XP_047287365.1:p.His454Tyr, XP_047287366.1:p.His395Tyr, XP_047287367.1:p.His432Tyr, XP_047287364.1:p.His455Tyr, XP_047287368.1:p.His461Tyr

                                      19.

                                      rs1472831745 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        14:39279485 (GRCh38)
                                        14:39748689 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:39279484:T:C
                                        Gene:
                                        MIA2 (Varview)
                                        Functional Consequence:
                                        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000071/1 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000014.9:g.39279485T>C, NC_000014.8:g.39748689T>C, NG_030349.3:g.50565T>C, NM_001329214.4:c.2078T>C, NM_001329214.3:c.2078T>C, NM_001329214.2:c.2078T>C, NM_001329214.1:c.2078T>C, NM_005930.4:c.254T>C, NM_005930.3:c.254T>C, NM_203354.3:c.218T>C, NM_203354.2:c.218T>C, NM_203355.3:c.254T>C, NM_203355.2:c.254T>C, NM_001354152.3:c.254T>C, NM_001354152.2:c.254T>C, NM_001354152.1:c.254T>C, NM_001354154.2:c.254T>C, NM_001354154.1:c.254T>C, NM_001354155.2:c.254T>C, NM_001354155.1:c.254T>C, NM_001354145.2:c.14T>C, NM_001354145.1:c.14T>C, NR_148722.2:n.329T>C, NR_148722.1:n.590T>C, NM_001354151.2:c.254T>C, NM_001354151.1:c.254T>C, NM_001247989.2:c.254T>C, NM_001247989.1:c.254T>C, NM_001354137.2:c.167T>C, NM_001354137.1:c.167T>C, NM_001354140.2:c.14T>C, NM_001354140.1:c.14T>C, NR_148723.2:n.219T>C, NR_148723.1:n.480T>C, NM_001354150.2:c.236T>C, NM_001354150.1:c.236T>C, NM_001354157.2:c.254T>C, NM_001354157.1:c.254T>C, NM_001247990.2:c.14T>C, NM_001247990.1:c.14T>C, NM_001354141.2:c.14T>C, NM_001354141.1:c.14T>C, NM_203356.2:c.167T>C, NM_001354146.2:c.218T>C, NM_001354146.1:c.218T>C, NM_001354139.2:c.167T>C, NM_001354139.1:c.167T>C, NM_001354156.2:c.14T>C, NM_001354156.1:c.14T>C, NM_001354153.2:c.254T>C, NM_001354153.1:c.254T>C, NM_001354144.2:c.14T>C, NM_001354144.1:c.14T>C, NM_001354148.1:c.167T>C, NM_001354147.1:c.167T>C, NR_148721.1:n.421T>C, NM_001247988.1:c.167T>C, NM_001354138.1:c.167T>C, NM_001354149.1:c.167T>C, NM_001354142.1:c.14T>C, NM_001354143.1:c.14T>C, XM_017021317.3:c.167T>C, XM_017021317.2:c.167T>C, XM_017021317.1:c.167T>C, XM_011536778.3:c.218T>C, XM_011536778.2:c.218T>C, XM_011536778.1:c.218T>C, XM_017021315.3:c.236T>C, XM_017021315.2:c.236T>C, XM_017021315.1:c.236T>C, XM_017021324.3:c.14T>C, XM_017021324.2:c.14T>C, XM_017021324.1:c.14T>C, XM_024449592.2:c.2078T>C, XM_024449592.1:c.2078T>C, XM_024449593.2:c.2078T>C, XM_024449593.1:c.2078T>C, XM_024449594.2:c.2078T>C, XM_024449594.1:c.2078T>C, XM_024449595.2:c.2078T>C, XM_024449595.1:c.2078T>C, XM_024449596.2:c.2078T>C, XM_024449596.1:c.2078T>C, XM_024449597.2:c.2078T>C, XM_024449597.1:c.2078T>C, XM_017021314.2:c.254T>C, XM_017021314.1:c.254T>C, XM_017021316.2:c.218T>C, XM_017021316.1:c.218T>C, XM_017021330.2:c.167T>C, XM_017021330.1:c.167T>C, XM_024449598.2:c.14T>C, XM_024449598.1:c.14T>C, XM_017021318.2:c.167T>C, XM_017021318.1:c.167T>C, XM_017021319.2:c.167T>C, XM_017021319.1:c.167T>C, XM_017021323.2:c.14T>C, XM_017021323.1:c.14T>C, XM_047431399.1:c.1754T>C, XM_047431398.1:c.2078T>C, XM_047431401.1:c.2078T>C, NM_203357.1:c.14T>C, XM_047431403.1:c.218T>C, XM_047431405.1:c.167T>C, XM_047431406.1:c.167T>C, XM_047431407.1:c.254T>C, XM_047431409.1:c.218T>C, XM_047431410.1:c.14T>C, XM_047431411.1:c.167T>C, XM_047431408.1:c.236T>C, XM_047431402.1:c.2078T>C, XM_047431412.1:c.254T>C, NP_001316143.1:p.Leu693Pro, NP_005921.2:p.Leu85Pro, NP_976229.1:p.Leu73Pro, NP_976230.1:p.Leu85Pro, NP_001341081.1:p.Leu85Pro, NP_001341083.1:p.Leu85Pro, NP_001341084.1:p.Leu85Pro, NP_001341074.1:p.Leu5Pro, NP_001341080.1:p.Leu85Pro, NP_001234918.1:p.Leu85Pro, NP_001341066.1:p.Leu56Pro, NP_001341069.1:p.Leu5Pro, NP_001341079.1:p.Leu79Pro, NP_001341086.1:p.Leu85Pro, NP_001234919.1:p.Leu5Pro, NP_001341070.1:p.Leu5Pro, NP_976231.1:p.Leu56Pro, NP_001341075.1:p.Leu73Pro, NP_001341068.1:p.Leu56Pro, NP_001341085.1:p.Leu5Pro, NP_001341082.1:p.Leu85Pro, NP_001341073.1:p.Leu5Pro, NP_001341077.1:p.Leu56Pro, NP_001341076.1:p.Leu56Pro, NP_001234917.1:p.Leu56Pro, NP_001341067.1:p.Leu56Pro, NP_001341078.1:p.Leu56Pro, NP_001341071.1:p.Leu5Pro, NP_001341072.1:p.Leu5Pro, XP_016876806.1:p.Leu56Pro, XP_011535080.1:p.Leu73Pro, XP_016876804.1:p.Leu79Pro, XP_016876813.1:p.Leu5Pro, XP_024305360.1:p.Leu693Pro, XP_024305361.1:p.Leu693Pro, XP_024305362.1:p.Leu693Pro, XP_024305363.1:p.Leu693Pro, XP_024305364.1:p.Leu693Pro, XP_024305365.1:p.Leu693Pro, XP_016876803.1:p.Leu85Pro, XP_016876805.1:p.Leu73Pro, XP_016876819.1:p.Leu56Pro, XP_024305366.1:p.Leu5Pro, XP_016876807.1:p.Leu56Pro, XP_016876808.1:p.Leu56Pro, XP_016876812.1:p.Leu5Pro, XP_047287355.1:p.Leu585Pro, XP_047287354.1:p.Leu693Pro, XP_047287357.1:p.Leu693Pro, XP_047287359.1:p.Leu73Pro, XP_047287361.1:p.Leu56Pro, XP_047287362.1:p.Leu56Pro, XP_047287363.1:p.Leu85Pro, XP_047287365.1:p.Leu73Pro, XP_047287366.1:p.Leu5Pro, XP_047287367.1:p.Leu56Pro, XP_047287364.1:p.Leu79Pro, XP_047287358.1:p.Leu693Pro, XP_047287368.1:p.Leu85Pro

                                        20.

                                        rs1470901690 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AA>- [Show Flanks]
                                          Chromosome:
                                          14:39291023 (GRCh38)
                                          14:39760227 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:39291022:AA:
                                          Gene:
                                          MIA2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000014.9:g.39291023_39291024del, NC_000014.8:g.39760227_39760228del, NG_030349.3:g.62103_62104del, NM_001329214.4:c.2135_2136del, NM_001329214.3:c.2135_2136del, NM_001329214.2:c.2135_2136del, NM_001329214.1:c.2135_2136del, NM_005930.4:c.311_312del, NM_005930.3:c.311_312del, NM_203354.3:c.275_276del, NM_203354.2:c.275_276del, NM_203355.3:c.311_312del, NM_203355.2:c.311_312del, NM_001354152.3:c.311_312del, NM_001354152.2:c.311_312del, NM_001354152.1:c.311_312del, NM_001354154.2:c.311_312del, NM_001354154.1:c.311_312del, NM_001354155.2:c.311_312del, NM_001354155.1:c.311_312del, NM_001354145.2:c.71_72del, NM_001354145.1:c.71_72del, NR_148722.2:n.386_387del, NR_148722.1:n.647_648del, NM_001354151.2:c.311_312del, NM_001354151.1:c.311_312del, NM_001247989.2:c.311_312del, NM_001247989.1:c.311_312del, NM_001354137.2:c.224_225del, NM_001354137.1:c.224_225del, NM_001354140.2:c.71_72del, NM_001354140.1:c.71_72del, NR_148723.2:n.276_277del, NR_148723.1:n.537_538del, NM_001354150.2:c.293_294del, NM_001354150.1:c.293_294del, NM_001247990.2:c.71_72del, NM_001247990.1:c.71_72del, NM_001354141.2:c.71_72del, NM_001354141.1:c.71_72del, NM_203356.2:c.224_225del, NM_001354146.2:c.275_276del, NM_001354146.1:c.275_276del, NM_001354139.2:c.224_225del, NM_001354139.1:c.224_225del, NM_001354144.2:c.71_72del, NM_001354144.1:c.71_72del, NM_001354148.1:c.224_225del, NR_148721.1:n.478_479del, NM_001247988.1:c.224_225del, NM_001354138.1:c.224_225del, NM_001354142.1:c.71_72del, NM_001354143.1:c.71_72del, XM_017021317.3:c.224_225del, XM_017021317.2:c.224_225del, XM_017021317.1:c.224_225del, XM_011536778.3:c.275_276del, XM_011536778.2:c.275_276del, XM_011536778.1:c.275_276del, XM_017021315.3:c.293_294del, XM_017021315.2:c.293_294del, XM_017021315.1:c.293_294del, XM_017021324.3:c.71_72del, XM_017021324.2:c.71_72del, XM_017021324.1:c.71_72del, XM_024449592.2:c.2135_2136del, XM_024449592.1:c.2135_2136del, XM_024449593.2:c.2135_2136del, XM_024449593.1:c.2135_2136del, XM_024449594.2:c.2135_2136del, XM_024449594.1:c.2135_2136del, XM_024449595.2:c.2135_2136del, XM_024449595.1:c.2135_2136del, XM_024449596.2:c.2135_2136del, XM_024449596.1:c.2135_2136del, XM_024449597.2:c.2135_2136del, XM_024449597.1:c.2135_2136del, XM_017021314.2:c.311_312del, XM_017021314.1:c.311_312del, XM_017021316.2:c.275_276del, XM_017021316.1:c.275_276del, XM_017021330.2:c.224_225del, XM_017021330.1:c.224_225del, XM_024449598.2:c.71_72del, XM_024449598.1:c.71_72del, XM_017021318.2:c.224_225del, XM_017021318.1:c.224_225del, XM_017021319.2:c.224_225del, XM_017021319.1:c.224_225del, XM_017021323.2:c.71_72del, XM_017021323.1:c.71_72del, XM_047431399.1:c.1811_1812del, XM_047431398.1:c.2135_2136del, XM_047431401.1:c.2135_2136del, NM_203357.1:c.71_72del, XM_047431403.1:c.275_276del, XM_047431405.1:c.224_225del, XM_047431406.1:c.224_225del, XM_047431407.1:c.311_312del, XM_047431409.1:c.275_276del, XM_047431410.1:c.71_72del, XM_047431411.1:c.224_225del, XM_047431408.1:c.293_294del, XM_047431402.1:c.2135_2136del, XM_047431412.1:c.311_312del, NP_001316143.1:p.Glu712fs, NP_005921.2:p.Glu104fs, NP_976229.1:p.Glu92fs, NP_976230.1:p.Glu104fs, NP_001341081.1:p.Glu104fs, NP_001341083.1:p.Glu104fs, NP_001341084.1:p.Glu104fs, NP_001341074.1:p.Glu24fs, NP_001341080.1:p.Glu104fs, NP_001234918.1:p.Glu104fs, NP_001341066.1:p.Glu75fs, NP_001341069.1:p.Glu24fs, NP_001341079.1:p.Glu98fs, NP_001234919.1:p.Glu24fs, NP_001341070.1:p.Glu24fs, NP_976231.1:p.Glu75fs, NP_001341075.1:p.Glu92fs, NP_001341068.1:p.Glu75fs, NP_001341073.1:p.Glu24fs, NP_001341077.1:p.Glu75fs, NP_001234917.1:p.Glu75fs, NP_001341067.1:p.Glu75fs, NP_001341071.1:p.Glu24fs, NP_001341072.1:p.Glu24fs, XP_016876806.1:p.Glu75fs, XP_011535080.1:p.Glu92fs, XP_016876804.1:p.Glu98fs, XP_016876813.1:p.Glu24fs, XP_024305360.1:p.Glu712fs, XP_024305361.1:p.Glu712fs, XP_024305362.1:p.Glu712fs, XP_024305363.1:p.Glu712fs, XP_024305364.1:p.Glu712fs, XP_024305365.1:p.Glu712fs, XP_016876803.1:p.Glu104fs, XP_016876805.1:p.Glu92fs, XP_016876819.1:p.Glu75fs, XP_024305366.1:p.Glu24fs, XP_016876807.1:p.Glu75fs, XP_016876808.1:p.Glu75fs, XP_016876812.1:p.Glu24fs, XP_047287355.1:p.Glu604fs, XP_047287354.1:p.Glu712fs, XP_047287357.1:p.Glu712fs, XP_047287359.1:p.Glu92fs, XP_047287361.1:p.Glu75fs, XP_047287362.1:p.Glu75fs, XP_047287363.1:p.Glu104fs, XP_047287365.1:p.Glu92fs, XP_047287366.1:p.Glu24fs, XP_047287367.1:p.Glu75fs, XP_047287364.1:p.Glu98fs, XP_047287358.1:p.Glu712fs, XP_047287368.1:p.Glu104fs

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