U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1133

1.

rs1490965704 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    3:49112568 (GRCh38)
    3:49150001 (GRCh37)
    Canonical SPDI:
    NC_000003.12:49112567:G:A
    Gene:
    USP19 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000003.12:g.49112568G>A, NC_000003.11:g.49150001G>A, NG_054716.1:g.13371C>T, NM_006677.3:c.2258C>T, NM_006677.2:c.2258C>T, NM_001351100.2:c.2564C>T, NM_001351100.1:c.2564C>T, NM_001199160.2:c.2561C>T, NM_001199160.1:c.2561C>T, NM_001351101.2:c.2567C>T, NM_001351101.1:c.2567C>T, NM_001199161.2:c.2567C>T, NM_001199161.1:c.2567C>T, NM_001351099.2:c.2558C>T, NM_001351099.1:c.2558C>T, NM_001199162.2:c.2531C>T, NM_001199162.1:c.2531C>T, NM_001351098.2:c.2528C>T, NM_001351098.1:c.2528C>T, NM_001351107.2:c.2522C>T, NM_001351107.1:c.2522C>T, NM_001351105.2:c.2411C>T, NM_001351105.1:c.2411C>T, NM_001351104.2:c.2270C>T, NM_001351104.1:c.2270C>T, NM_001351106.2:c.2264C>T, NM_001351106.1:c.2264C>T, NM_001351103.2:c.2264C>T, NM_001351103.1:c.2264C>T, NM_001351108.2:c.2225C>T, NM_001351108.1:c.2225C>T, NM_001351102.2:c.2219C>T, NM_001351102.1:c.2219C>T, NM_001400288.1:c.2567C>T, NM_001400292.1:c.2567C>T, NM_001400293.1:c.2561C>T, NM_001400297.1:c.2522C>T, NM_001389595.1:c.2567C>T, NM_001389594.1:c.2567C>T, NM_001389602.1:c.2558C>T, NM_001389596.1:c.2573C>T, NM_001400290.1:c.2570C>T, NM_001389604.1:c.2564C>T, NM_001389598.1:c.2561C>T, NM_001389603.1:c.2522C>T, NM_001400294.1:c.2561C>T, NM_001389601.1:c.2516C>T, NM_001400295.1:c.2525C>T, NM_001400296.1:c.2522C>T, NM_001389599.1:c.2519C>T, NM_001389600.1:c.2516C>T, NM_001400298.1:c.2513C>T, NM_001400299.1:c.2492C>T, NM_001389605.1:c.2411C>T, NM_001389597.1:c.2270C>T, NM_001389606.1:c.2264C>T, NM_001389608.1:c.2258C>T, NM_001389607.1:c.2219C>T, XM_005264823.4:c.2573C>T, XM_005264823.3:c.2573C>T, XM_005264823.2:c.2573C>T, XM_005264823.1:c.2573C>T, XM_006712946.4:c.2570C>T, XM_006712946.3:c.2570C>T, XM_006712946.2:c.2570C>T, XM_006712946.1:c.2570C>T, XM_005264824.3:c.2573C>T, XM_005264824.2:c.2573C>T, XM_005264824.1:c.2573C>T, XM_005264827.3:c.2528C>T, XM_005264827.2:c.2528C>T, XM_005264827.1:c.2528C>T, XM_006712947.3:c.2519C>T, XM_006712947.2:c.2519C>T, XM_006712947.1:c.2519C>T, XM_017005627.2:c.2225C>T, XM_017005627.1:c.2225C>T, XM_047447341.1:c.2564C>T, XM_047447346.1:c.2564C>T, XM_047447342.1:c.2525C>T, XM_047447343.1:c.2522C>T, XM_047447344.1:c.2519C>T, XM_047447345.1:c.2513C>T, XM_047447347.1:c.2519C>T, XM_047447349.1:c.2372C>T, XM_047447348.1:c.2264C>T, XM_047447350.1:c.2219C>T, XM_047447351.1:c.2213C>T, XM_047447352.1:c.2219C>T, XM_047447353.1:c.2213C>T, NP_006668.1:p.Pro753Leu, NP_001338029.1:p.Pro855Leu, NP_001186089.1:p.Pro854Leu, NP_001338030.1:p.Pro856Leu, NP_001186090.1:p.Pro856Leu, NP_001338028.1:p.Pro853Leu, NP_001186091.1:p.Pro844Leu, NP_001338027.1:p.Pro843Leu, NP_001338036.1:p.Pro841Leu, NP_001338034.1:p.Pro804Leu, NP_001338033.1:p.Pro757Leu, NP_001338035.1:p.Pro755Leu, NP_001338032.1:p.Pro755Leu, NP_001338037.1:p.Pro742Leu, NP_001338031.1:p.Pro740Leu, NP_001387217.1:p.Pro856Leu, NP_001387221.1:p.Pro856Leu, NP_001387222.1:p.Pro854Leu, NP_001387226.1:p.Pro841Leu, NP_001376524.1:p.Pro856Leu, NP_001376523.1:p.Pro856Leu, NP_001376531.1:p.Pro853Leu, NP_001376525.1:p.Pro858Leu, NP_001387219.1:p.Pro857Leu, NP_001376533.1:p.Pro855Leu, NP_001376527.1:p.Pro854Leu, NP_001376532.1:p.Pro841Leu, NP_001387223.1:p.Pro854Leu, NP_001376530.1:p.Pro839Leu, NP_001387224.1:p.Pro842Leu, NP_001387225.1:p.Pro841Leu, NP_001376528.1:p.Pro840Leu, NP_001376529.1:p.Pro839Leu, NP_001387227.1:p.Pro838Leu, NP_001387228.1:p.Pro831Leu, NP_001376534.1:p.Pro804Leu, NP_001376526.1:p.Pro757Leu, NP_001376535.1:p.Pro755Leu, NP_001376537.1:p.Pro753Leu, NP_001376536.1:p.Pro740Leu, XP_005264880.1:p.Pro858Leu, XP_006713009.1:p.Pro857Leu, XP_005264881.1:p.Pro858Leu, XP_005264884.1:p.Pro843Leu, XP_006713010.1:p.Pro840Leu, XP_016861116.1:p.Pro742Leu, XP_047303297.1:p.Pro855Leu, XP_047303302.1:p.Pro855Leu, XP_047303298.1:p.Pro842Leu, XP_047303299.1:p.Pro841Leu, XP_047303300.1:p.Pro840Leu, XP_047303301.1:p.Pro838Leu, XP_047303303.1:p.Pro840Leu, XP_047303305.1:p.Pro791Leu, XP_047303304.1:p.Pro755Leu, XP_047303306.1:p.Pro740Leu, XP_047303307.1:p.Pro738Leu, XP_047303308.1:p.Pro740Leu, XP_047303309.1:p.Pro738Leu

    2.

    rs1490425017 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      3:49116749 (GRCh38)
      3:49154182 (GRCh37)
      Canonical SPDI:
      NC_000003.12:49116748:T:C,NC_000003.12:49116748:T:G
      Gene:
      USP19 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000003.12:g.49116749T>C, NC_000003.12:g.49116749T>G, NC_000003.11:g.49154182T>C, NC_000003.11:g.49154182T>G, NG_054716.1:g.9190A>G, NG_054716.1:g.9190A>C, NM_006677.3:c.801A>G, NM_006677.3:c.801A>C, NM_006677.2:c.801A>G, NM_006677.2:c.801A>C, NM_001351100.2:c.1101A>G, NM_001351100.2:c.1101A>C, NM_001351100.1:c.1101A>G, NM_001351100.1:c.1101A>C, NM_001199160.2:c.1104A>G, NM_001199160.2:c.1104A>C, NM_001199160.1:c.1104A>G, NM_001199160.1:c.1104A>C, NM_001351101.2:c.1104A>G, NM_001351101.2:c.1104A>C, NM_001351101.1:c.1104A>G, NM_001351101.1:c.1104A>C, NM_001199161.2:c.1104A>G, NM_001199161.2:c.1104A>C, NM_001199161.1:c.1104A>G, NM_001199161.1:c.1104A>C, NM_001351099.2:c.1101A>G, NM_001351099.2:c.1101A>C, NM_001351099.1:c.1101A>G, NM_001351099.1:c.1101A>C, NM_001199162.2:c.1074A>G, NM_001199162.2:c.1074A>C, NM_001199162.1:c.1074A>G, NM_001199162.1:c.1074A>C, NM_001351098.2:c.1059A>G, NM_001351098.2:c.1059A>C, NM_001351098.1:c.1059A>G, NM_001351098.1:c.1059A>C, NM_001351107.2:c.1059A>G, NM_001351107.2:c.1059A>C, NM_001351107.1:c.1059A>G, NM_001351107.1:c.1059A>C, NM_001351105.2:c.954A>G, NM_001351105.2:c.954A>C, NM_001351105.1:c.954A>G, NM_001351105.1:c.954A>C, NM_001351104.2:c.801A>G, NM_001351104.2:c.801A>C, NM_001351104.1:c.801A>G, NM_001351104.1:c.801A>C, NM_001351106.2:c.801A>G, NM_001351106.2:c.801A>C, NM_001351106.1:c.801A>G, NM_001351106.1:c.801A>C, NM_001351103.2:c.801A>G, NM_001351103.2:c.801A>C, NM_001351103.1:c.801A>G, NM_001351103.1:c.801A>C, NM_001351108.2:c.756A>G, NM_001351108.2:c.756A>C, NM_001351108.1:c.756A>G, NM_001351108.1:c.756A>C, NM_001351102.2:c.756A>G, NM_001351102.2:c.756A>C, NM_001351102.1:c.756A>G, NM_001351102.1:c.756A>C, NM_001400288.1:c.1104A>G, NM_001400288.1:c.1104A>C, NM_001400292.1:c.1104A>G, NM_001400292.1:c.1104A>C, NM_001400293.1:c.1104A>G, NM_001400293.1:c.1104A>C, NM_001400297.1:c.1059A>G, NM_001400297.1:c.1059A>C, NM_001389595.1:c.1104A>G, NM_001389595.1:c.1104A>C, NM_001389594.1:c.1104A>G, NM_001389594.1:c.1104A>C, NM_001389602.1:c.1101A>G, NM_001389602.1:c.1101A>C, NM_001389596.1:c.1104A>G, NM_001389596.1:c.1104A>C, NM_001400290.1:c.1101A>G, NM_001400290.1:c.1101A>C, NM_001389604.1:c.1101A>G, NM_001389604.1:c.1101A>C, NM_001389598.1:c.1104A>G, NM_001389598.1:c.1104A>C, NM_001389603.1:c.1059A>G, NM_001389603.1:c.1059A>C, NM_001400294.1:c.1104A>G, NM_001400294.1:c.1104A>C, NM_001389601.1:c.1059A>G, NM_001389601.1:c.1059A>C, NM_001400295.1:c.1056A>G, NM_001400295.1:c.1056A>C, NM_001400296.1:c.1059A>G, NM_001400296.1:c.1059A>C, NM_001389599.1:c.1056A>G, NM_001389599.1:c.1056A>C, NM_001389600.1:c.1059A>G, NM_001389600.1:c.1059A>C, NM_001400298.1:c.1056A>G, NM_001400298.1:c.1056A>C, NM_001400299.1:c.1029A>G, NM_001400299.1:c.1029A>C, NM_001389605.1:c.954A>G, NM_001389605.1:c.954A>C, NM_001389597.1:c.801A>G, NM_001389597.1:c.801A>C, NM_001389606.1:c.801A>G, NM_001389606.1:c.801A>C, NM_001389608.1:c.801A>G, NM_001389608.1:c.801A>C, NM_001389607.1:c.756A>G, NM_001389607.1:c.756A>C, XM_005264823.4:c.1104A>G, XM_005264823.4:c.1104A>C, XM_005264823.3:c.1104A>G, XM_005264823.3:c.1104A>C, XM_005264823.2:c.1104A>G, XM_005264823.2:c.1104A>C, XM_005264823.1:c.1104A>G, XM_005264823.1:c.1104A>C, XM_006712946.4:c.1101A>G, XM_006712946.4:c.1101A>C, XM_006712946.3:c.1101A>G, XM_006712946.3:c.1101A>C, XM_006712946.2:c.1101A>G, XM_006712946.2:c.1101A>C, XM_006712946.1:c.1101A>G, XM_006712946.1:c.1101A>C, XM_005264824.3:c.1104A>G, XM_005264824.3:c.1104A>C, XM_005264824.2:c.1104A>G, XM_005264824.2:c.1104A>C, XM_005264824.1:c.1104A>G, XM_005264824.1:c.1104A>C, XM_005264827.3:c.1059A>G, XM_005264827.3:c.1059A>C, XM_005264827.2:c.1059A>G, XM_005264827.2:c.1059A>C, XM_005264827.1:c.1059A>G, XM_005264827.1:c.1059A>C, XM_006712947.3:c.1056A>G, XM_006712947.3:c.1056A>C, XM_006712947.2:c.1056A>G, XM_006712947.2:c.1056A>C, XM_006712947.1:c.1056A>G, XM_006712947.1:c.1056A>C, XM_017005627.2:c.756A>G, XM_017005627.2:c.756A>C, XM_017005627.1:c.756A>G, XM_017005627.1:c.756A>C, XM_047447341.1:c.1101A>G, XM_047447341.1:c.1101A>C, XM_047447346.1:c.1101A>G, XM_047447346.1:c.1101A>C, XM_047447342.1:c.1056A>G, XM_047447342.1:c.1056A>C, XM_047447343.1:c.1059A>G, XM_047447343.1:c.1059A>C, XM_047447344.1:c.1056A>G, XM_047447344.1:c.1056A>C, XM_047447345.1:c.1056A>G, XM_047447345.1:c.1056A>C, XM_047447347.1:c.1056A>G, XM_047447347.1:c.1056A>C, XM_047447349.1:c.909A>G, XM_047447349.1:c.909A>C, XM_047447348.1:c.801A>G, XM_047447348.1:c.801A>C, XM_047447350.1:c.756A>G, XM_047447350.1:c.756A>C, XM_047447351.1:c.756A>G, XM_047447351.1:c.756A>C, XM_047447352.1:c.756A>G, XM_047447352.1:c.756A>C, XM_047447353.1:c.756A>G, XM_047447353.1:c.756A>C

      3.

      rs1490168078 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        3:49110763 (GRCh38)
        3:49148196 (GRCh37)
        Canonical SPDI:
        NC_000003.12:49110762:G:A
        Gene:
        USP19 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_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_000003.12:g.49110763G>A, NC_000003.11:g.49148196G>A, NG_054716.1:g.15176C>T, NM_006677.3:c.3337C>T, NM_006677.2:c.3337C>T, NM_001351100.2:c.3643C>T, NM_001351100.1:c.3643C>T, NM_001199160.2:c.3640C>T, NM_001199160.1:c.3640C>T, NM_001351101.2:c.3646C>T, NM_001351101.1:c.3646C>T, NM_001199161.2:c.3646C>T, NM_001199161.1:c.3646C>T, NM_001351099.2:c.3637C>T, NM_001351099.1:c.3637C>T, NM_001199162.2:c.3610C>T, NM_001199162.1:c.3610C>T, NM_001351098.2:c.3607C>T, NM_001351098.1:c.3607C>T, NM_001351107.2:c.3601C>T, NM_001351107.1:c.3601C>T, NM_001351105.2:c.3490C>T, NM_001351105.1:c.3490C>T, NM_001351104.2:c.3349C>T, NM_001351104.1:c.3349C>T, NM_001351106.2:c.3343C>T, NM_001351106.1:c.3343C>T, NM_001351103.2:c.3343C>T, NM_001351103.1:c.3343C>T, NM_001351108.2:c.3304C>T, NM_001351108.1:c.3304C>T, NM_001351102.2:c.3298C>T, NM_001351102.1:c.3298C>T, NM_001400288.1:c.3646C>T, NM_001400292.1:c.3646C>T, NM_001400293.1:c.3640C>T, NM_001400297.1:c.3601C>T, NM_001389595.1:c.3646C>T, NM_001389594.1:c.3646C>T, NM_001389602.1:c.3637C>T, NM_001389596.1:c.3652C>T, NM_001400290.1:c.3649C>T, NM_001389604.1:c.3643C>T, NM_001389598.1:c.3640C>T, NM_001389603.1:c.3601C>T, NM_001400294.1:c.3631C>T, NM_001389601.1:c.3595C>T, NM_001400295.1:c.3604C>T, NM_001400296.1:c.3601C>T, NM_001389599.1:c.3598C>T, NM_001389600.1:c.3595C>T, NM_001400298.1:c.3592C>T, NM_001400299.1:c.3571C>T, NM_001389605.1:c.3490C>T, NM_001389597.1:c.3349C>T, NM_001389606.1:c.3343C>T, NM_001389608.1:c.3337C>T, NM_001389607.1:c.3298C>T, XM_005264823.4:c.3652C>T, XM_005264823.3:c.3652C>T, XM_005264823.2:c.3652C>T, XM_005264823.1:c.3652C>T, XM_006712946.4:c.3649C>T, XM_006712946.3:c.3649C>T, XM_006712946.2:c.3649C>T, XM_006712946.1:c.3649C>T, XM_005264824.3:c.3652C>T, XM_005264824.2:c.3652C>T, XM_005264824.1:c.3652C>T, XM_005264827.3:c.3607C>T, XM_005264827.2:c.3607C>T, XM_005264827.1:c.3607C>T, XM_006712947.3:c.3598C>T, XM_006712947.2:c.3598C>T, XM_006712947.1:c.3598C>T, XM_017005627.2:c.3304C>T, XM_017005627.1:c.3304C>T, XM_047447341.1:c.3643C>T, XM_047447346.1:c.3643C>T, XM_047447342.1:c.3604C>T, XM_047447343.1:c.3601C>T, XM_047447344.1:c.3598C>T, XM_047447345.1:c.3592C>T, XM_047447347.1:c.3598C>T, XM_047447349.1:c.3451C>T, XM_047447348.1:c.3343C>T, XM_047447350.1:c.3298C>T, XM_047447351.1:c.3292C>T, XM_047447352.1:c.3298C>T, XM_047447353.1:c.3292C>T, NP_006668.1:p.Arg1113Cys, NP_001338029.1:p.Arg1215Cys, NP_001186089.1:p.Arg1214Cys, NP_001338030.1:p.Arg1216Cys, NP_001186090.1:p.Arg1216Cys, NP_001338028.1:p.Arg1213Cys, NP_001186091.1:p.Arg1204Cys, NP_001338027.1:p.Arg1203Cys, NP_001338036.1:p.Arg1201Cys, NP_001338034.1:p.Arg1164Cys, NP_001338033.1:p.Arg1117Cys, NP_001338035.1:p.Arg1115Cys, NP_001338032.1:p.Arg1115Cys, NP_001338037.1:p.Arg1102Cys, NP_001338031.1:p.Arg1100Cys, NP_001387217.1:p.Arg1216Cys, NP_001387221.1:p.Arg1216Cys, NP_001387222.1:p.Arg1214Cys, NP_001387226.1:p.Arg1201Cys, NP_001376524.1:p.Arg1216Cys, NP_001376523.1:p.Arg1216Cys, NP_001376531.1:p.Arg1213Cys, NP_001376525.1:p.Arg1218Cys, NP_001387219.1:p.Arg1217Cys, NP_001376533.1:p.Arg1215Cys, NP_001376527.1:p.Arg1214Cys, NP_001376532.1:p.Arg1201Cys, NP_001387223.1:p.Arg1211Cys, NP_001376530.1:p.Arg1199Cys, NP_001387224.1:p.Arg1202Cys, NP_001387225.1:p.Arg1201Cys, NP_001376528.1:p.Arg1200Cys, NP_001376529.1:p.Arg1199Cys, NP_001387227.1:p.Arg1198Cys, NP_001387228.1:p.Arg1191Cys, NP_001376534.1:p.Arg1164Cys, NP_001376526.1:p.Arg1117Cys, NP_001376535.1:p.Arg1115Cys, NP_001376537.1:p.Arg1113Cys, NP_001376536.1:p.Arg1100Cys, XP_005264880.1:p.Arg1218Cys, XP_006713009.1:p.Arg1217Cys, XP_005264881.1:p.Arg1218Cys, XP_005264884.1:p.Arg1203Cys, XP_006713010.1:p.Arg1200Cys, XP_016861116.1:p.Arg1102Cys, XP_047303297.1:p.Arg1215Cys, XP_047303302.1:p.Arg1215Cys, XP_047303298.1:p.Arg1202Cys, XP_047303299.1:p.Arg1201Cys, XP_047303300.1:p.Arg1200Cys, XP_047303301.1:p.Arg1198Cys, XP_047303303.1:p.Arg1200Cys, XP_047303305.1:p.Arg1151Cys, XP_047303304.1:p.Arg1115Cys, XP_047303306.1:p.Arg1100Cys, XP_047303307.1:p.Arg1098Cys, XP_047303308.1:p.Arg1100Cys, XP_047303309.1:p.Arg1098Cys

        4.

        rs1489017252 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          3:49110218 (GRCh38)
          3:49147651 (GRCh37)
          Canonical SPDI:
          NC_000003.12:49110217:T:C
          Gene:
          USP19 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000005/1 (GnomAD_exomes)
          C=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.49110218T>C, NC_000003.11:g.49147651T>C, NG_054716.1:g.15721A>G, NM_006677.3:c.3695A>G, NM_006677.2:c.3695A>G, NM_001351100.2:c.4001A>G, NM_001351100.1:c.4001A>G, NM_001199160.2:c.3998A>G, NM_001199160.1:c.3998A>G, NM_001351101.2:c.4004A>G, NM_001351101.1:c.4004A>G, NM_001199161.2:c.4004A>G, NM_001199161.1:c.4004A>G, NM_001351099.2:c.3995A>G, NM_001351099.1:c.3995A>G, NM_001199162.2:c.3968A>G, NM_001199162.1:c.3968A>G, NM_001351098.2:c.3965A>G, NM_001351098.1:c.3965A>G, NM_001351107.2:c.3959A>G, NM_001351107.1:c.3959A>G, NM_001351105.2:c.3848A>G, NM_001351105.1:c.3848A>G, NM_001351104.2:c.3707A>G, NM_001351104.1:c.3707A>G, NM_001351106.2:c.3701A>G, NM_001351106.1:c.3701A>G, NM_001351103.2:c.3701A>G, NM_001351103.1:c.3701A>G, NM_001351108.2:c.3662A>G, NM_001351108.1:c.3662A>G, NM_001351102.2:c.3656A>G, NM_001351102.1:c.3656A>G, NM_001400288.1:c.4004A>G, NM_001400292.1:c.4004A>G, NM_001400293.1:c.3998A>G, NM_001400297.1:c.3959A>G, NM_001389595.1:c.4004A>G, NM_001389594.1:c.4004A>G, NM_001389602.1:c.3995A>G, NM_001389596.1:c.4010A>G, NM_001400290.1:c.4007A>G, NM_001389604.1:c.4001A>G, NM_001389598.1:c.3998A>G, NM_001389603.1:c.3959A>G, NM_001400294.1:c.3989A>G, NM_001389601.1:c.3953A>G, NM_001400295.1:c.3962A>G, NM_001400296.1:c.3959A>G, NM_001389599.1:c.3956A>G, NM_001389600.1:c.3953A>G, NM_001400298.1:c.3950A>G, NM_001400299.1:c.3929A>G, NM_001389605.1:c.3848A>G, NM_001389597.1:c.3707A>G, NM_001389606.1:c.3701A>G, NM_001389608.1:c.3695A>G, NM_001389607.1:c.3656A>G, XM_005264823.4:c.4010A>G, XM_005264823.3:c.4010A>G, XM_005264823.2:c.4010A>G, XM_005264823.1:c.4010A>G, XM_006712946.4:c.4007A>G, XM_006712946.3:c.4007A>G, XM_006712946.2:c.4007A>G, XM_006712946.1:c.4007A>G, XM_005264824.3:c.4010A>G, XM_005264824.2:c.4010A>G, XM_005264824.1:c.4010A>G, XM_005264827.3:c.3965A>G, XM_005264827.2:c.3965A>G, XM_005264827.1:c.3965A>G, XM_006712947.3:c.3956A>G, XM_006712947.2:c.3956A>G, XM_006712947.1:c.3956A>G, XM_017005627.2:c.3662A>G, XM_017005627.1:c.3662A>G, XM_047447341.1:c.4001A>G, XM_047447346.1:c.4001A>G, XM_047447342.1:c.3962A>G, XM_047447343.1:c.3959A>G, XM_047447344.1:c.3956A>G, XM_047447345.1:c.3950A>G, XM_047447347.1:c.3956A>G, XM_047447349.1:c.3809A>G, XM_047447348.1:c.3701A>G, XM_047447350.1:c.3656A>G, XM_047447351.1:c.3650A>G, XM_047447352.1:c.3656A>G, XM_047447353.1:c.3650A>G, NP_006668.1:p.Asp1232Gly, NP_001338029.1:p.Asp1334Gly, NP_001186089.1:p.Asp1333Gly, NP_001338030.1:p.Asp1335Gly, NP_001186090.1:p.Asp1335Gly, NP_001338028.1:p.Asp1332Gly, NP_001186091.1:p.Asp1323Gly, NP_001338027.1:p.Asp1322Gly, NP_001338036.1:p.Asp1320Gly, NP_001338034.1:p.Asp1283Gly, NP_001338033.1:p.Asp1236Gly, NP_001338035.1:p.Asp1234Gly, NP_001338032.1:p.Asp1234Gly, NP_001338037.1:p.Asp1221Gly, NP_001338031.1:p.Asp1219Gly, NP_001387217.1:p.Asp1335Gly, NP_001387221.1:p.Asp1335Gly, NP_001387222.1:p.Asp1333Gly, NP_001387226.1:p.Asp1320Gly, NP_001376524.1:p.Asp1335Gly, NP_001376523.1:p.Asp1335Gly, NP_001376531.1:p.Asp1332Gly, NP_001376525.1:p.Asp1337Gly, NP_001387219.1:p.Asp1336Gly, NP_001376533.1:p.Asp1334Gly, NP_001376527.1:p.Asp1333Gly, NP_001376532.1:p.Asp1320Gly, NP_001387223.1:p.Asp1330Gly, NP_001376530.1:p.Asp1318Gly, NP_001387224.1:p.Asp1321Gly, NP_001387225.1:p.Asp1320Gly, NP_001376528.1:p.Asp1319Gly, NP_001376529.1:p.Asp1318Gly, NP_001387227.1:p.Asp1317Gly, NP_001387228.1:p.Asp1310Gly, NP_001376534.1:p.Asp1283Gly, NP_001376526.1:p.Asp1236Gly, NP_001376535.1:p.Asp1234Gly, NP_001376537.1:p.Asp1232Gly, NP_001376536.1:p.Asp1219Gly, XP_005264880.1:p.Asp1337Gly, XP_006713009.1:p.Asp1336Gly, XP_005264881.1:p.Asp1337Gly, XP_005264884.1:p.Asp1322Gly, XP_006713010.1:p.Asp1319Gly, XP_016861116.1:p.Asp1221Gly, XP_047303297.1:p.Asp1334Gly, XP_047303302.1:p.Asp1334Gly, XP_047303298.1:p.Asp1321Gly, XP_047303299.1:p.Asp1320Gly, XP_047303300.1:p.Asp1319Gly, XP_047303301.1:p.Asp1317Gly, XP_047303303.1:p.Asp1319Gly, XP_047303305.1:p.Asp1270Gly, XP_047303304.1:p.Asp1234Gly, XP_047303306.1:p.Asp1219Gly, XP_047303307.1:p.Asp1217Gly, XP_047303308.1:p.Asp1219Gly, XP_047303309.1:p.Asp1217Gly

          5.

          rs1488170394 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            3:49116738 (GRCh38)
            3:49154171 (GRCh37)
            Canonical SPDI:
            NC_000003.12:49116737:G:C
            Gene:
            USP19 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.49116738G>C, NC_000003.11:g.49154171G>C, NG_054716.1:g.9201C>G, NM_006677.3:c.812C>G, NM_006677.2:c.812C>G, NM_001351100.2:c.1112C>G, NM_001351100.1:c.1112C>G, NM_001199160.2:c.1115C>G, NM_001199160.1:c.1115C>G, NM_001351101.2:c.1115C>G, NM_001351101.1:c.1115C>G, NM_001199161.2:c.1115C>G, NM_001199161.1:c.1115C>G, NM_001351099.2:c.1112C>G, NM_001351099.1:c.1112C>G, NM_001199162.2:c.1085C>G, NM_001199162.1:c.1085C>G, NM_001351098.2:c.1070C>G, NM_001351098.1:c.1070C>G, NM_001351107.2:c.1070C>G, NM_001351107.1:c.1070C>G, NM_001351105.2:c.965C>G, NM_001351105.1:c.965C>G, NM_001351104.2:c.812C>G, NM_001351104.1:c.812C>G, NM_001351106.2:c.812C>G, NM_001351106.1:c.812C>G, NM_001351103.2:c.812C>G, NM_001351103.1:c.812C>G, NM_001351108.2:c.767C>G, NM_001351108.1:c.767C>G, NM_001351102.2:c.767C>G, NM_001351102.1:c.767C>G, NM_001400288.1:c.1115C>G, NM_001400292.1:c.1115C>G, NM_001400293.1:c.1115C>G, NM_001400297.1:c.1070C>G, NM_001389595.1:c.1115C>G, NM_001389594.1:c.1115C>G, NM_001389602.1:c.1112C>G, NM_001389596.1:c.1115C>G, NM_001400290.1:c.1112C>G, NM_001389604.1:c.1112C>G, NM_001389598.1:c.1115C>G, NM_001389603.1:c.1070C>G, NM_001400294.1:c.1115C>G, NM_001389601.1:c.1070C>G, NM_001400295.1:c.1067C>G, NM_001400296.1:c.1070C>G, NM_001389599.1:c.1067C>G, NM_001389600.1:c.1070C>G, NM_001400298.1:c.1067C>G, NM_001400299.1:c.1040C>G, NM_001389605.1:c.965C>G, NM_001389597.1:c.812C>G, NM_001389606.1:c.812C>G, NM_001389608.1:c.812C>G, NM_001389607.1:c.767C>G, XM_005264823.4:c.1115C>G, XM_005264823.3:c.1115C>G, XM_005264823.2:c.1115C>G, XM_005264823.1:c.1115C>G, XM_006712946.4:c.1112C>G, XM_006712946.3:c.1112C>G, XM_006712946.2:c.1112C>G, XM_006712946.1:c.1112C>G, XM_005264824.3:c.1115C>G, XM_005264824.2:c.1115C>G, XM_005264824.1:c.1115C>G, XM_005264827.3:c.1070C>G, XM_005264827.2:c.1070C>G, XM_005264827.1:c.1070C>G, XM_006712947.3:c.1067C>G, XM_006712947.2:c.1067C>G, XM_006712947.1:c.1067C>G, XM_017005627.2:c.767C>G, XM_017005627.1:c.767C>G, XM_047447341.1:c.1112C>G, XM_047447346.1:c.1112C>G, XM_047447342.1:c.1067C>G, XM_047447343.1:c.1070C>G, XM_047447344.1:c.1067C>G, XM_047447345.1:c.1067C>G, XM_047447347.1:c.1067C>G, XM_047447349.1:c.920C>G, XM_047447348.1:c.812C>G, XM_047447350.1:c.767C>G, XM_047447351.1:c.767C>G, XM_047447352.1:c.767C>G, XM_047447353.1:c.767C>G, NP_006668.1:p.Thr271Ser, NP_001338029.1:p.Thr371Ser, NP_001186089.1:p.Thr372Ser, NP_001338030.1:p.Thr372Ser, NP_001186090.1:p.Thr372Ser, NP_001338028.1:p.Thr371Ser, NP_001186091.1:p.Thr362Ser, NP_001338027.1:p.Thr357Ser, NP_001338036.1:p.Thr357Ser, NP_001338034.1:p.Thr322Ser, NP_001338033.1:p.Thr271Ser, NP_001338035.1:p.Thr271Ser, NP_001338032.1:p.Thr271Ser, NP_001338037.1:p.Thr256Ser, NP_001338031.1:p.Thr256Ser, NP_001387217.1:p.Thr372Ser, NP_001387221.1:p.Thr372Ser, NP_001387222.1:p.Thr372Ser, NP_001387226.1:p.Thr357Ser, NP_001376524.1:p.Thr372Ser, NP_001376523.1:p.Thr372Ser, NP_001376531.1:p.Thr371Ser, NP_001376525.1:p.Thr372Ser, NP_001387219.1:p.Thr371Ser, NP_001376533.1:p.Thr371Ser, NP_001376527.1:p.Thr372Ser, NP_001376532.1:p.Thr357Ser, NP_001387223.1:p.Thr372Ser, NP_001376530.1:p.Thr357Ser, NP_001387224.1:p.Thr356Ser, NP_001387225.1:p.Thr357Ser, NP_001376528.1:p.Thr356Ser, NP_001376529.1:p.Thr357Ser, NP_001387227.1:p.Thr356Ser, NP_001387228.1:p.Thr347Ser, NP_001376534.1:p.Thr322Ser, NP_001376526.1:p.Thr271Ser, NP_001376535.1:p.Thr271Ser, NP_001376537.1:p.Thr271Ser, NP_001376536.1:p.Thr256Ser, XP_005264880.1:p.Thr372Ser, XP_006713009.1:p.Thr371Ser, XP_005264881.1:p.Thr372Ser, XP_005264884.1:p.Thr357Ser, XP_006713010.1:p.Thr356Ser, XP_016861116.1:p.Thr256Ser, XP_047303297.1:p.Thr371Ser, XP_047303302.1:p.Thr371Ser, XP_047303298.1:p.Thr356Ser, XP_047303299.1:p.Thr357Ser, XP_047303300.1:p.Thr356Ser, XP_047303301.1:p.Thr356Ser, XP_047303303.1:p.Thr356Ser, XP_047303305.1:p.Thr307Ser, XP_047303304.1:p.Thr271Ser, XP_047303306.1:p.Thr256Ser, XP_047303307.1:p.Thr256Ser, XP_047303308.1:p.Thr256Ser, XP_047303309.1:p.Thr256Ser

            6.

            rs1485602343 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,T [Show Flanks]
              Chromosome:
              3:49111321 (GRCh38)
              3:49148754 (GRCh37)
              Canonical SPDI:
              NC_000003.12:49111320:G:A,NC_000003.12:49111320:G:T
              Gene:
              USP19 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000003.12:g.49111321G>A, NC_000003.12:g.49111321G>T, NC_000003.11:g.49148754G>A, NC_000003.11:g.49148754G>T, NG_054716.1:g.14618C>T, NG_054716.1:g.14618C>A, NM_006677.3:c.2953C>T, NM_006677.3:c.2953C>A, NM_006677.2:c.2953C>T, NM_006677.2:c.2953C>A, NM_001351100.2:c.3259C>T, NM_001351100.2:c.3259C>A, NM_001351100.1:c.3259C>T, NM_001351100.1:c.3259C>A, NM_001199160.2:c.3256C>T, NM_001199160.2:c.3256C>A, NM_001199160.1:c.3256C>T, NM_001199160.1:c.3256C>A, NM_001351101.2:c.3262C>T, NM_001351101.2:c.3262C>A, NM_001351101.1:c.3262C>T, NM_001351101.1:c.3262C>A, NM_001199161.2:c.3262C>T, NM_001199161.2:c.3262C>A, NM_001199161.1:c.3262C>T, NM_001199161.1:c.3262C>A, NM_001351099.2:c.3253C>T, NM_001351099.2:c.3253C>A, NM_001351099.1:c.3253C>T, NM_001351099.1:c.3253C>A, NM_001199162.2:c.3226C>T, NM_001199162.2:c.3226C>A, NM_001199162.1:c.3226C>T, NM_001199162.1:c.3226C>A, NM_001351098.2:c.3223C>T, NM_001351098.2:c.3223C>A, NM_001351098.1:c.3223C>T, NM_001351098.1:c.3223C>A, NM_001351107.2:c.3217C>T, NM_001351107.2:c.3217C>A, NM_001351107.1:c.3217C>T, NM_001351107.1:c.3217C>A, NM_001351105.2:c.3106C>T, NM_001351105.2:c.3106C>A, NM_001351105.1:c.3106C>T, NM_001351105.1:c.3106C>A, NM_001351104.2:c.2965C>T, NM_001351104.2:c.2965C>A, NM_001351104.1:c.2965C>T, NM_001351104.1:c.2965C>A, NM_001351106.2:c.2959C>T, NM_001351106.2:c.2959C>A, NM_001351106.1:c.2959C>T, NM_001351106.1:c.2959C>A, NM_001351103.2:c.2959C>T, NM_001351103.2:c.2959C>A, NM_001351103.1:c.2959C>T, NM_001351103.1:c.2959C>A, NM_001351108.2:c.2920C>T, NM_001351108.2:c.2920C>A, NM_001351108.1:c.2920C>T, NM_001351108.1:c.2920C>A, NM_001351102.2:c.2914C>T, NM_001351102.2:c.2914C>A, NM_001351102.1:c.2914C>T, NM_001351102.1:c.2914C>A, NM_001400288.1:c.3262C>T, NM_001400288.1:c.3262C>A, NM_001400292.1:c.3262C>T, NM_001400292.1:c.3262C>A, NM_001400293.1:c.3256C>T, NM_001400293.1:c.3256C>A, NM_001400297.1:c.3217C>T, NM_001400297.1:c.3217C>A, NM_001389595.1:c.3262C>T, NM_001389595.1:c.3262C>A, NM_001389594.1:c.3262C>T, NM_001389594.1:c.3262C>A, NM_001389602.1:c.3253C>T, NM_001389602.1:c.3253C>A, NM_001389596.1:c.3268C>T, NM_001389596.1:c.3268C>A, NM_001400290.1:c.3265C>T, NM_001400290.1:c.3265C>A, NM_001389604.1:c.3259C>T, NM_001389604.1:c.3259C>A, NM_001389598.1:c.3256C>T, NM_001389598.1:c.3256C>A, NM_001389603.1:c.3217C>T, NM_001389603.1:c.3217C>A, NM_001400294.1:c.3247C>T, NM_001400294.1:c.3247C>A, NM_001389601.1:c.3211C>T, NM_001389601.1:c.3211C>A, NM_001400295.1:c.3220C>T, NM_001400295.1:c.3220C>A, NM_001400296.1:c.3217C>T, NM_001400296.1:c.3217C>A, NM_001389599.1:c.3214C>T, NM_001389599.1:c.3214C>A, NM_001389600.1:c.3211C>T, NM_001389600.1:c.3211C>A, NM_001400298.1:c.3208C>T, NM_001400298.1:c.3208C>A, NM_001400299.1:c.3187C>T, NM_001400299.1:c.3187C>A, NM_001389605.1:c.3106C>T, NM_001389605.1:c.3106C>A, NM_001389597.1:c.2965C>T, NM_001389597.1:c.2965C>A, NM_001389606.1:c.2959C>T, NM_001389606.1:c.2959C>A, NM_001389608.1:c.2953C>T, NM_001389608.1:c.2953C>A, NM_001389607.1:c.2914C>T, NM_001389607.1:c.2914C>A, XM_005264823.4:c.3268C>T, XM_005264823.4:c.3268C>A, XM_005264823.3:c.3268C>T, XM_005264823.3:c.3268C>A, XM_005264823.2:c.3268C>T, XM_005264823.2:c.3268C>A, XM_005264823.1:c.3268C>T, XM_005264823.1:c.3268C>A, XM_006712946.4:c.3265C>T, XM_006712946.4:c.3265C>A, XM_006712946.3:c.3265C>T, XM_006712946.3:c.3265C>A, XM_006712946.2:c.3265C>T, XM_006712946.2:c.3265C>A, XM_006712946.1:c.3265C>T, XM_006712946.1:c.3265C>A, XM_005264824.3:c.3268C>T, XM_005264824.3:c.3268C>A, XM_005264824.2:c.3268C>T, XM_005264824.2:c.3268C>A, XM_005264824.1:c.3268C>T, XM_005264824.1:c.3268C>A, XM_005264827.3:c.3223C>T, XM_005264827.3:c.3223C>A, XM_005264827.2:c.3223C>T, XM_005264827.2:c.3223C>A, XM_005264827.1:c.3223C>T, XM_005264827.1:c.3223C>A, XM_006712947.3:c.3214C>T, XM_006712947.3:c.3214C>A, XM_006712947.2:c.3214C>T, XM_006712947.2:c.3214C>A, XM_006712947.1:c.3214C>T, XM_006712947.1:c.3214C>A, XM_017005627.2:c.2920C>T, XM_017005627.2:c.2920C>A, XM_017005627.1:c.2920C>T, XM_017005627.1:c.2920C>A, XM_047447341.1:c.3259C>T, XM_047447341.1:c.3259C>A, XM_047447346.1:c.3259C>T, XM_047447346.1:c.3259C>A, XM_047447342.1:c.3220C>T, XM_047447342.1:c.3220C>A, XM_047447343.1:c.3217C>T, XM_047447343.1:c.3217C>A, XM_047447344.1:c.3214C>T, XM_047447344.1:c.3214C>A, XM_047447345.1:c.3208C>T, XM_047447345.1:c.3208C>A, XM_047447347.1:c.3214C>T, XM_047447347.1:c.3214C>A, XM_047447349.1:c.3067C>T, XM_047447349.1:c.3067C>A, XM_047447348.1:c.2959C>T, XM_047447348.1:c.2959C>A, XM_047447350.1:c.2914C>T, XM_047447350.1:c.2914C>A, XM_047447351.1:c.2908C>T, XM_047447351.1:c.2908C>A, XM_047447352.1:c.2914C>T, XM_047447352.1:c.2914C>A, XM_047447353.1:c.2908C>T, XM_047447353.1:c.2908C>A, NP_006668.1:p.His985Tyr, NP_006668.1:p.His985Asn, NP_001338029.1:p.His1087Tyr, NP_001338029.1:p.His1087Asn, NP_001186089.1:p.His1086Tyr, NP_001186089.1:p.His1086Asn, NP_001338030.1:p.His1088Tyr, NP_001338030.1:p.His1088Asn, NP_001186090.1:p.His1088Tyr, NP_001186090.1:p.His1088Asn, NP_001338028.1:p.His1085Tyr, NP_001338028.1:p.His1085Asn, NP_001186091.1:p.His1076Tyr, NP_001186091.1:p.His1076Asn, NP_001338027.1:p.His1075Tyr, NP_001338027.1:p.His1075Asn, NP_001338036.1:p.His1073Tyr, NP_001338036.1:p.His1073Asn, NP_001338034.1:p.His1036Tyr, NP_001338034.1:p.His1036Asn, NP_001338033.1:p.His989Tyr, NP_001338033.1:p.His989Asn, NP_001338035.1:p.His987Tyr, NP_001338035.1:p.His987Asn, NP_001338032.1:p.His987Tyr, NP_001338032.1:p.His987Asn, NP_001338037.1:p.His974Tyr, NP_001338037.1:p.His974Asn, NP_001338031.1:p.His972Tyr, NP_001338031.1:p.His972Asn, NP_001387217.1:p.His1088Tyr, NP_001387217.1:p.His1088Asn, NP_001387221.1:p.His1088Tyr, NP_001387221.1:p.His1088Asn, NP_001387222.1:p.His1086Tyr, NP_001387222.1:p.His1086Asn, NP_001387226.1:p.His1073Tyr, NP_001387226.1:p.His1073Asn, NP_001376524.1:p.His1088Tyr, NP_001376524.1:p.His1088Asn, NP_001376523.1:p.His1088Tyr, NP_001376523.1:p.His1088Asn, NP_001376531.1:p.His1085Tyr, NP_001376531.1:p.His1085Asn, NP_001376525.1:p.His1090Tyr, NP_001376525.1:p.His1090Asn, NP_001387219.1:p.His1089Tyr, NP_001387219.1:p.His1089Asn, NP_001376533.1:p.His1087Tyr, NP_001376533.1:p.His1087Asn, NP_001376527.1:p.His1086Tyr, NP_001376527.1:p.His1086Asn, NP_001376532.1:p.His1073Tyr, NP_001376532.1:p.His1073Asn, NP_001387223.1:p.His1083Tyr, NP_001387223.1:p.His1083Asn, NP_001376530.1:p.His1071Tyr, NP_001376530.1:p.His1071Asn, NP_001387224.1:p.His1074Tyr, NP_001387224.1:p.His1074Asn, NP_001387225.1:p.His1073Tyr, NP_001387225.1:p.His1073Asn, NP_001376528.1:p.His1072Tyr, NP_001376528.1:p.His1072Asn, NP_001376529.1:p.His1071Tyr, NP_001376529.1:p.His1071Asn, NP_001387227.1:p.His1070Tyr, NP_001387227.1:p.His1070Asn, NP_001387228.1:p.His1063Tyr, NP_001387228.1:p.His1063Asn, NP_001376534.1:p.His1036Tyr, NP_001376534.1:p.His1036Asn, NP_001376526.1:p.His989Tyr, NP_001376526.1:p.His989Asn, NP_001376535.1:p.His987Tyr, NP_001376535.1:p.His987Asn, NP_001376537.1:p.His985Tyr, NP_001376537.1:p.His985Asn, NP_001376536.1:p.His972Tyr, NP_001376536.1:p.His972Asn, XP_005264880.1:p.His1090Tyr, XP_005264880.1:p.His1090Asn, XP_006713009.1:p.His1089Tyr, XP_006713009.1:p.His1089Asn, XP_005264881.1:p.His1090Tyr, XP_005264881.1:p.His1090Asn, XP_005264884.1:p.His1075Tyr, XP_005264884.1:p.His1075Asn, XP_006713010.1:p.His1072Tyr, XP_006713010.1:p.His1072Asn, XP_016861116.1:p.His974Tyr, XP_016861116.1:p.His974Asn, XP_047303297.1:p.His1087Tyr, XP_047303297.1:p.His1087Asn, XP_047303302.1:p.His1087Tyr, XP_047303302.1:p.His1087Asn, XP_047303298.1:p.His1074Tyr, XP_047303298.1:p.His1074Asn, XP_047303299.1:p.His1073Tyr, XP_047303299.1:p.His1073Asn, XP_047303300.1:p.His1072Tyr, XP_047303300.1:p.His1072Asn, XP_047303301.1:p.His1070Tyr, XP_047303301.1:p.His1070Asn, XP_047303303.1:p.His1072Tyr, XP_047303303.1:p.His1072Asn, XP_047303305.1:p.His1023Tyr, XP_047303305.1:p.His1023Asn, XP_047303304.1:p.His987Tyr, XP_047303304.1:p.His987Asn, XP_047303306.1:p.His972Tyr, XP_047303306.1:p.His972Asn, XP_047303307.1:p.His970Tyr, XP_047303307.1:p.His970Asn, XP_047303308.1:p.His972Tyr, XP_047303308.1:p.His972Asn, XP_047303309.1:p.His970Tyr, XP_047303309.1:p.His970Asn

              7.

              rs1484272259 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                3:49115357 (GRCh38)
                3:49152790 (GRCh37)
                Canonical SPDI:
                NC_000003.12:49115356:G:A
                Gene:
                USP19 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000071/1 (ALFA)
                A=0.000007/1 (GnomAD)
                A=0.000008/2 (GnomAD_exomes)
                A=0.000008/2 (TOPMED)
                HGVS:
                NC_000003.12:g.49115357G>A, NC_000003.11:g.49152790G>A, NG_054716.1:g.10582C>T, NM_006677.3:c.1584C>T, NM_006677.2:c.1584C>T, NM_001351100.2:c.1890C>T, NM_001351100.1:c.1890C>T, NM_001199160.2:c.1887C>T, NM_001199160.1:c.1887C>T, NM_001351101.2:c.1893C>T, NM_001351101.1:c.1893C>T, NM_001199161.2:c.1893C>T, NM_001199161.1:c.1893C>T, NM_001351099.2:c.1884C>T, NM_001351099.1:c.1884C>T, NM_001199162.2:c.1857C>T, NM_001199162.1:c.1857C>T, NM_001351098.2:c.1854C>T, NM_001351098.1:c.1854C>T, NM_001351107.2:c.1848C>T, NM_001351107.1:c.1848C>T, NM_001351105.2:c.1737C>T, NM_001351105.1:c.1737C>T, NM_001351104.2:c.1596C>T, NM_001351104.1:c.1596C>T, NM_001351106.2:c.1590C>T, NM_001351106.1:c.1590C>T, NM_001351103.2:c.1590C>T, NM_001351103.1:c.1590C>T, NM_001351108.2:c.1551C>T, NM_001351108.1:c.1551C>T, NM_001351102.2:c.1545C>T, NM_001351102.1:c.1545C>T, NM_001400288.1:c.1893C>T, NM_001400292.1:c.1893C>T, NM_001400293.1:c.1887C>T, NM_001400297.1:c.1848C>T, NM_001389595.1:c.1893C>T, NM_001389594.1:c.1893C>T, NM_001389602.1:c.1884C>T, NM_001389596.1:c.1899C>T, NM_001400290.1:c.1896C>T, NM_001389604.1:c.1890C>T, NM_001389598.1:c.1887C>T, NM_001389603.1:c.1848C>T, NM_001400294.1:c.1887C>T, NM_001389601.1:c.1842C>T, NM_001400295.1:c.1851C>T, NM_001400296.1:c.1848C>T, NM_001389599.1:c.1845C>T, NM_001389600.1:c.1842C>T, NM_001400298.1:c.1839C>T, NM_001400299.1:c.1818C>T, NM_001389605.1:c.1737C>T, NM_001389597.1:c.1596C>T, NM_001389606.1:c.1590C>T, NM_001389608.1:c.1584C>T, NM_001389607.1:c.1545C>T, XM_005264823.4:c.1899C>T, XM_005264823.3:c.1899C>T, XM_005264823.2:c.1899C>T, XM_005264823.1:c.1899C>T, XM_006712946.4:c.1896C>T, XM_006712946.3:c.1896C>T, XM_006712946.2:c.1896C>T, XM_006712946.1:c.1896C>T, XM_005264824.3:c.1899C>T, XM_005264824.2:c.1899C>T, XM_005264824.1:c.1899C>T, XM_005264827.3:c.1854C>T, XM_005264827.2:c.1854C>T, XM_005264827.1:c.1854C>T, XM_006712947.3:c.1845C>T, XM_006712947.2:c.1845C>T, XM_006712947.1:c.1845C>T, XM_017005627.2:c.1551C>T, XM_017005627.1:c.1551C>T, XM_047447341.1:c.1890C>T, XM_047447346.1:c.1890C>T, XM_047447342.1:c.1851C>T, XM_047447343.1:c.1848C>T, XM_047447344.1:c.1845C>T, XM_047447345.1:c.1839C>T, XM_047447347.1:c.1845C>T, XM_047447349.1:c.1698C>T, XM_047447348.1:c.1590C>T, XM_047447350.1:c.1545C>T, XM_047447351.1:c.1539C>T, XM_047447352.1:c.1545C>T, XM_047447353.1:c.1539C>T

                8.

                rs1483974914 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:49111062 (GRCh38)
                  3:49148495 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:49111061:A:G
                  Gene:
                  USP19 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000003.12:g.49111062A>G, NC_000003.11:g.49148495A>G, NG_054716.1:g.14877T>C, NM_006677.3:c.3124T>C, NM_006677.2:c.3124T>C, NM_001351100.2:c.3430T>C, NM_001351100.1:c.3430T>C, NM_001199160.2:c.3427T>C, NM_001199160.1:c.3427T>C, NM_001351101.2:c.3433T>C, NM_001351101.1:c.3433T>C, NM_001199161.2:c.3433T>C, NM_001199161.1:c.3433T>C, NM_001351099.2:c.3424T>C, NM_001351099.1:c.3424T>C, NM_001199162.2:c.3397T>C, NM_001199162.1:c.3397T>C, NM_001351098.2:c.3394T>C, NM_001351098.1:c.3394T>C, NM_001351107.2:c.3388T>C, NM_001351107.1:c.3388T>C, NM_001351105.2:c.3277T>C, NM_001351105.1:c.3277T>C, NM_001351104.2:c.3136T>C, NM_001351104.1:c.3136T>C, NM_001351106.2:c.3130T>C, NM_001351106.1:c.3130T>C, NM_001351103.2:c.3130T>C, NM_001351103.1:c.3130T>C, NM_001351108.2:c.3091T>C, NM_001351108.1:c.3091T>C, NM_001351102.2:c.3085T>C, NM_001351102.1:c.3085T>C, NM_001400288.1:c.3433T>C, NM_001400292.1:c.3433T>C, NM_001400293.1:c.3427T>C, NM_001400297.1:c.3388T>C, NM_001389595.1:c.3433T>C, NM_001389594.1:c.3433T>C, NM_001389602.1:c.3424T>C, NM_001389596.1:c.3439T>C, NM_001400290.1:c.3436T>C, NM_001389604.1:c.3430T>C, NM_001389598.1:c.3427T>C, NM_001389603.1:c.3388T>C, NM_001400294.1:c.3418T>C, NM_001389601.1:c.3382T>C, NM_001400295.1:c.3391T>C, NM_001400296.1:c.3388T>C, NM_001389599.1:c.3385T>C, NM_001389600.1:c.3382T>C, NM_001400298.1:c.3379T>C, NM_001400299.1:c.3358T>C, NM_001389605.1:c.3277T>C, NM_001389597.1:c.3136T>C, NM_001389606.1:c.3130T>C, NM_001389608.1:c.3124T>C, NM_001389607.1:c.3085T>C, XM_005264823.4:c.3439T>C, XM_005264823.3:c.3439T>C, XM_005264823.2:c.3439T>C, XM_005264823.1:c.3439T>C, XM_006712946.4:c.3436T>C, XM_006712946.3:c.3436T>C, XM_006712946.2:c.3436T>C, XM_006712946.1:c.3436T>C, XM_005264824.3:c.3439T>C, XM_005264824.2:c.3439T>C, XM_005264824.1:c.3439T>C, XM_005264827.3:c.3394T>C, XM_005264827.2:c.3394T>C, XM_005264827.1:c.3394T>C, XM_006712947.3:c.3385T>C, XM_006712947.2:c.3385T>C, XM_006712947.1:c.3385T>C, XM_017005627.2:c.3091T>C, XM_017005627.1:c.3091T>C, XM_047447341.1:c.3430T>C, XM_047447346.1:c.3430T>C, XM_047447342.1:c.3391T>C, XM_047447343.1:c.3388T>C, XM_047447344.1:c.3385T>C, XM_047447345.1:c.3379T>C, XM_047447347.1:c.3385T>C, XM_047447349.1:c.3238T>C, XM_047447348.1:c.3130T>C, XM_047447350.1:c.3085T>C, XM_047447351.1:c.3079T>C, XM_047447352.1:c.3085T>C, XM_047447353.1:c.3079T>C, NP_006668.1:p.Cys1042Arg, NP_001338029.1:p.Cys1144Arg, NP_001186089.1:p.Cys1143Arg, NP_001338030.1:p.Cys1145Arg, NP_001186090.1:p.Cys1145Arg, NP_001338028.1:p.Cys1142Arg, NP_001186091.1:p.Cys1133Arg, NP_001338027.1:p.Cys1132Arg, NP_001338036.1:p.Cys1130Arg, NP_001338034.1:p.Cys1093Arg, NP_001338033.1:p.Cys1046Arg, NP_001338035.1:p.Cys1044Arg, NP_001338032.1:p.Cys1044Arg, NP_001338037.1:p.Cys1031Arg, NP_001338031.1:p.Cys1029Arg, NP_001387217.1:p.Cys1145Arg, NP_001387221.1:p.Cys1145Arg, NP_001387222.1:p.Cys1143Arg, NP_001387226.1:p.Cys1130Arg, NP_001376524.1:p.Cys1145Arg, NP_001376523.1:p.Cys1145Arg, NP_001376531.1:p.Cys1142Arg, NP_001376525.1:p.Cys1147Arg, NP_001387219.1:p.Cys1146Arg, NP_001376533.1:p.Cys1144Arg, NP_001376527.1:p.Cys1143Arg, NP_001376532.1:p.Cys1130Arg, NP_001387223.1:p.Cys1140Arg, NP_001376530.1:p.Cys1128Arg, NP_001387224.1:p.Cys1131Arg, NP_001387225.1:p.Cys1130Arg, NP_001376528.1:p.Cys1129Arg, NP_001376529.1:p.Cys1128Arg, NP_001387227.1:p.Cys1127Arg, NP_001387228.1:p.Cys1120Arg, NP_001376534.1:p.Cys1093Arg, NP_001376526.1:p.Cys1046Arg, NP_001376535.1:p.Cys1044Arg, NP_001376537.1:p.Cys1042Arg, NP_001376536.1:p.Cys1029Arg, XP_005264880.1:p.Cys1147Arg, XP_006713009.1:p.Cys1146Arg, XP_005264881.1:p.Cys1147Arg, XP_005264884.1:p.Cys1132Arg, XP_006713010.1:p.Cys1129Arg, XP_016861116.1:p.Cys1031Arg, XP_047303297.1:p.Cys1144Arg, XP_047303302.1:p.Cys1144Arg, XP_047303298.1:p.Cys1131Arg, XP_047303299.1:p.Cys1130Arg, XP_047303300.1:p.Cys1129Arg, XP_047303301.1:p.Cys1127Arg, XP_047303303.1:p.Cys1129Arg, XP_047303305.1:p.Cys1080Arg, XP_047303304.1:p.Cys1044Arg, XP_047303306.1:p.Cys1029Arg, XP_047303307.1:p.Cys1027Arg, XP_047303308.1:p.Cys1029Arg, XP_047303309.1:p.Cys1027Arg

                  9.

                  rs1483549988 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>G [Show Flanks]
                    Chromosome:
                    3:49111300 (GRCh38)
                    3:49148733 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:49111299:A:G
                    Gene:
                    USP19 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.49111300A>G, NC_000003.11:g.49148733A>G, NG_054716.1:g.14639T>C, NM_006677.3:c.2974T>C, NM_006677.2:c.2974T>C, NM_001351100.2:c.3280T>C, NM_001351100.1:c.3280T>C, NM_001199160.2:c.3277T>C, NM_001199160.1:c.3277T>C, NM_001351101.2:c.3283T>C, NM_001351101.1:c.3283T>C, NM_001199161.2:c.3283T>C, NM_001199161.1:c.3283T>C, NM_001351099.2:c.3274T>C, NM_001351099.1:c.3274T>C, NM_001199162.2:c.3247T>C, NM_001199162.1:c.3247T>C, NM_001351098.2:c.3244T>C, NM_001351098.1:c.3244T>C, NM_001351107.2:c.3238T>C, NM_001351107.1:c.3238T>C, NM_001351105.2:c.3127T>C, NM_001351105.1:c.3127T>C, NM_001351104.2:c.2986T>C, NM_001351104.1:c.2986T>C, NM_001351106.2:c.2980T>C, NM_001351106.1:c.2980T>C, NM_001351103.2:c.2980T>C, NM_001351103.1:c.2980T>C, NM_001351108.2:c.2941T>C, NM_001351108.1:c.2941T>C, NM_001351102.2:c.2935T>C, NM_001351102.1:c.2935T>C, NM_001400288.1:c.3283T>C, NM_001400292.1:c.3283T>C, NM_001400293.1:c.3277T>C, NM_001400297.1:c.3238T>C, NM_001389595.1:c.3283T>C, NM_001389594.1:c.3283T>C, NM_001389602.1:c.3274T>C, NM_001389596.1:c.3289T>C, NM_001400290.1:c.3286T>C, NM_001389604.1:c.3280T>C, NM_001389598.1:c.3277T>C, NM_001389603.1:c.3238T>C, NM_001400294.1:c.3268T>C, NM_001389601.1:c.3232T>C, NM_001400295.1:c.3241T>C, NM_001400296.1:c.3238T>C, NM_001389599.1:c.3235T>C, NM_001389600.1:c.3232T>C, NM_001400298.1:c.3229T>C, NM_001400299.1:c.3208T>C, NM_001389605.1:c.3127T>C, NM_001389597.1:c.2986T>C, NM_001389606.1:c.2980T>C, NM_001389608.1:c.2974T>C, NM_001389607.1:c.2935T>C, XM_005264823.4:c.3289T>C, XM_005264823.3:c.3289T>C, XM_005264823.2:c.3289T>C, XM_005264823.1:c.3289T>C, XM_006712946.4:c.3286T>C, XM_006712946.3:c.3286T>C, XM_006712946.2:c.3286T>C, XM_006712946.1:c.3286T>C, XM_005264824.3:c.3289T>C, XM_005264824.2:c.3289T>C, XM_005264824.1:c.3289T>C, XM_005264827.3:c.3244T>C, XM_005264827.2:c.3244T>C, XM_005264827.1:c.3244T>C, XM_006712947.3:c.3235T>C, XM_006712947.2:c.3235T>C, XM_006712947.1:c.3235T>C, XM_017005627.2:c.2941T>C, XM_017005627.1:c.2941T>C, XM_047447341.1:c.3280T>C, XM_047447346.1:c.3280T>C, XM_047447342.1:c.3241T>C, XM_047447343.1:c.3238T>C, XM_047447344.1:c.3235T>C, XM_047447345.1:c.3229T>C, XM_047447347.1:c.3235T>C, XM_047447349.1:c.3088T>C, XM_047447348.1:c.2980T>C, XM_047447350.1:c.2935T>C, XM_047447351.1:c.2929T>C, XM_047447352.1:c.2935T>C, XM_047447353.1:c.2929T>C, NP_006668.1:p.Tyr992His, NP_001338029.1:p.Tyr1094His, NP_001186089.1:p.Tyr1093His, NP_001338030.1:p.Tyr1095His, NP_001186090.1:p.Tyr1095His, NP_001338028.1:p.Tyr1092His, NP_001186091.1:p.Tyr1083His, NP_001338027.1:p.Tyr1082His, NP_001338036.1:p.Tyr1080His, NP_001338034.1:p.Tyr1043His, NP_001338033.1:p.Tyr996His, NP_001338035.1:p.Tyr994His, NP_001338032.1:p.Tyr994His, NP_001338037.1:p.Tyr981His, NP_001338031.1:p.Tyr979His, NP_001387217.1:p.Tyr1095His, NP_001387221.1:p.Tyr1095His, NP_001387222.1:p.Tyr1093His, NP_001387226.1:p.Tyr1080His, NP_001376524.1:p.Tyr1095His, NP_001376523.1:p.Tyr1095His, NP_001376531.1:p.Tyr1092His, NP_001376525.1:p.Tyr1097His, NP_001387219.1:p.Tyr1096His, NP_001376533.1:p.Tyr1094His, NP_001376527.1:p.Tyr1093His, NP_001376532.1:p.Tyr1080His, NP_001387223.1:p.Tyr1090His, NP_001376530.1:p.Tyr1078His, NP_001387224.1:p.Tyr1081His, NP_001387225.1:p.Tyr1080His, NP_001376528.1:p.Tyr1079His, NP_001376529.1:p.Tyr1078His, NP_001387227.1:p.Tyr1077His, NP_001387228.1:p.Tyr1070His, NP_001376534.1:p.Tyr1043His, NP_001376526.1:p.Tyr996His, NP_001376535.1:p.Tyr994His, NP_001376537.1:p.Tyr992His, NP_001376536.1:p.Tyr979His, XP_005264880.1:p.Tyr1097His, XP_006713009.1:p.Tyr1096His, XP_005264881.1:p.Tyr1097His, XP_005264884.1:p.Tyr1082His, XP_006713010.1:p.Tyr1079His, XP_016861116.1:p.Tyr981His, XP_047303297.1:p.Tyr1094His, XP_047303302.1:p.Tyr1094His, XP_047303298.1:p.Tyr1081His, XP_047303299.1:p.Tyr1080His, XP_047303300.1:p.Tyr1079His, XP_047303301.1:p.Tyr1077His, XP_047303303.1:p.Tyr1079His, XP_047303305.1:p.Tyr1030His, XP_047303304.1:p.Tyr994His, XP_047303306.1:p.Tyr979His, XP_047303307.1:p.Tyr977His, XP_047303308.1:p.Tyr979His, XP_047303309.1:p.Tyr977His

                    10.

                    rs1482650532 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:49112508 (GRCh38)
                      3:49149941 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:49112507:A:G
                      Gene:
                      USP19 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000031/1 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000003.12:g.49112508A>G, NC_000003.11:g.49149941A>G, NG_054716.1:g.13431T>C, NM_006677.3:c.2318T>C, NM_006677.2:c.2318T>C, NM_001351100.2:c.2624T>C, NM_001351100.1:c.2624T>C, NM_001199160.2:c.2621T>C, NM_001199160.1:c.2621T>C, NM_001351101.2:c.2627T>C, NM_001351101.1:c.2627T>C, NM_001199161.2:c.2627T>C, NM_001199161.1:c.2627T>C, NM_001351099.2:c.2618T>C, NM_001351099.1:c.2618T>C, NM_001199162.2:c.2591T>C, NM_001199162.1:c.2591T>C, NM_001351098.2:c.2588T>C, NM_001351098.1:c.2588T>C, NM_001351107.2:c.2582T>C, NM_001351107.1:c.2582T>C, NM_001351105.2:c.2471T>C, NM_001351105.1:c.2471T>C, NM_001351104.2:c.2330T>C, NM_001351104.1:c.2330T>C, NM_001351106.2:c.2324T>C, NM_001351106.1:c.2324T>C, NM_001351103.2:c.2324T>C, NM_001351103.1:c.2324T>C, NM_001351108.2:c.2285T>C, NM_001351108.1:c.2285T>C, NM_001351102.2:c.2279T>C, NM_001351102.1:c.2279T>C, NM_001400288.1:c.2627T>C, NM_001400292.1:c.2627T>C, NM_001400293.1:c.2621T>C, NM_001400297.1:c.2582T>C, NM_001389595.1:c.2627T>C, NM_001389594.1:c.2627T>C, NM_001389602.1:c.2618T>C, NM_001389596.1:c.2633T>C, NM_001400290.1:c.2630T>C, NM_001389604.1:c.2624T>C, NM_001389598.1:c.2621T>C, NM_001389603.1:c.2582T>C, NM_001400294.1:c.2621T>C, NM_001389601.1:c.2576T>C, NM_001400295.1:c.2585T>C, NM_001400296.1:c.2582T>C, NM_001389599.1:c.2579T>C, NM_001389600.1:c.2576T>C, NM_001400298.1:c.2573T>C, NM_001400299.1:c.2552T>C, NM_001389605.1:c.2471T>C, NM_001389597.1:c.2330T>C, NM_001389606.1:c.2324T>C, NM_001389608.1:c.2318T>C, NM_001389607.1:c.2279T>C, XM_005264823.4:c.2633T>C, XM_005264823.3:c.2633T>C, XM_005264823.2:c.2633T>C, XM_005264823.1:c.2633T>C, XM_006712946.4:c.2630T>C, XM_006712946.3:c.2630T>C, XM_006712946.2:c.2630T>C, XM_006712946.1:c.2630T>C, XM_005264824.3:c.2633T>C, XM_005264824.2:c.2633T>C, XM_005264824.1:c.2633T>C, XM_005264827.3:c.2588T>C, XM_005264827.2:c.2588T>C, XM_005264827.1:c.2588T>C, XM_006712947.3:c.2579T>C, XM_006712947.2:c.2579T>C, XM_006712947.1:c.2579T>C, XM_017005627.2:c.2285T>C, XM_017005627.1:c.2285T>C, XM_047447341.1:c.2624T>C, XM_047447346.1:c.2624T>C, XM_047447342.1:c.2585T>C, XM_047447343.1:c.2582T>C, XM_047447344.1:c.2579T>C, XM_047447345.1:c.2573T>C, XM_047447347.1:c.2579T>C, XM_047447349.1:c.2432T>C, XM_047447348.1:c.2324T>C, XM_047447350.1:c.2279T>C, XM_047447351.1:c.2273T>C, XM_047447352.1:c.2279T>C, XM_047447353.1:c.2273T>C, NP_006668.1:p.Val773Ala, NP_001338029.1:p.Val875Ala, NP_001186089.1:p.Val874Ala, NP_001338030.1:p.Val876Ala, NP_001186090.1:p.Val876Ala, NP_001338028.1:p.Val873Ala, NP_001186091.1:p.Val864Ala, NP_001338027.1:p.Val863Ala, NP_001338036.1:p.Val861Ala, NP_001338034.1:p.Val824Ala, NP_001338033.1:p.Val777Ala, NP_001338035.1:p.Val775Ala, NP_001338032.1:p.Val775Ala, NP_001338037.1:p.Val762Ala, NP_001338031.1:p.Val760Ala, NP_001387217.1:p.Val876Ala, NP_001387221.1:p.Val876Ala, NP_001387222.1:p.Val874Ala, NP_001387226.1:p.Val861Ala, NP_001376524.1:p.Val876Ala, NP_001376523.1:p.Val876Ala, NP_001376531.1:p.Val873Ala, NP_001376525.1:p.Val878Ala, NP_001387219.1:p.Val877Ala, NP_001376533.1:p.Val875Ala, NP_001376527.1:p.Val874Ala, NP_001376532.1:p.Val861Ala, NP_001387223.1:p.Val874Ala, NP_001376530.1:p.Val859Ala, NP_001387224.1:p.Val862Ala, NP_001387225.1:p.Val861Ala, NP_001376528.1:p.Val860Ala, NP_001376529.1:p.Val859Ala, NP_001387227.1:p.Val858Ala, NP_001387228.1:p.Val851Ala, NP_001376534.1:p.Val824Ala, NP_001376526.1:p.Val777Ala, NP_001376535.1:p.Val775Ala, NP_001376537.1:p.Val773Ala, NP_001376536.1:p.Val760Ala, XP_005264880.1:p.Val878Ala, XP_006713009.1:p.Val877Ala, XP_005264881.1:p.Val878Ala, XP_005264884.1:p.Val863Ala, XP_006713010.1:p.Val860Ala, XP_016861116.1:p.Val762Ala, XP_047303297.1:p.Val875Ala, XP_047303302.1:p.Val875Ala, XP_047303298.1:p.Val862Ala, XP_047303299.1:p.Val861Ala, XP_047303300.1:p.Val860Ala, XP_047303301.1:p.Val858Ala, XP_047303303.1:p.Val860Ala, XP_047303305.1:p.Val811Ala, XP_047303304.1:p.Val775Ala, XP_047303306.1:p.Val760Ala, XP_047303307.1:p.Val758Ala, XP_047303308.1:p.Val760Ala, XP_047303309.1:p.Val758Ala

                      11.

                      rs1481295335 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        3:49117548 (GRCh38)
                        3:49154981 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:49117547:G:A
                        Gene:
                        USP19 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000003.12:g.49117548G>A, NC_000003.11:g.49154981G>A, NG_054716.1:g.8391C>T, NM_006677.3:c.495C>T, NM_006677.2:c.495C>T, NM_001351100.2:c.495C>T, NM_001351100.1:c.495C>T, NM_001199160.2:c.495C>T, NM_001199160.1:c.495C>T, NM_001351101.2:c.495C>T, NM_001351101.1:c.495C>T, NM_001199161.2:c.495C>T, NM_001199161.1:c.495C>T, NM_001351099.2:c.495C>T, NM_001351099.1:c.495C>T, NM_001199162.2:c.495C>T, NM_001199162.1:c.495C>T, NM_001351098.2:c.450C>T, NM_001351098.1:c.450C>T, NM_001351107.2:c.450C>T, NM_001351107.1:c.450C>T, NM_001351105.2:c.495C>T, NM_001351105.1:c.495C>T, NM_001351104.2:c.495C>T, NM_001351104.1:c.495C>T, NM_001351106.2:c.495C>T, NM_001351106.1:c.495C>T, NM_001351103.2:c.495C>T, NM_001351103.1:c.495C>T, NM_001351108.2:c.450C>T, NM_001351108.1:c.450C>T, NM_001351102.2:c.450C>T, NM_001351102.1:c.450C>T, NM_001400288.1:c.495C>T, NM_001400292.1:c.495C>T, NM_001400293.1:c.495C>T, NM_001400297.1:c.450C>T, NM_001389595.1:c.495C>T, NM_001389594.1:c.495C>T, NM_001389602.1:c.495C>T, NM_001389596.1:c.495C>T, NM_001400290.1:c.495C>T, NM_001389604.1:c.495C>T, NM_001389598.1:c.495C>T, NM_001389603.1:c.450C>T, NM_001400294.1:c.495C>T, NM_001389601.1:c.450C>T, NM_001400295.1:c.450C>T, NM_001400296.1:c.450C>T, NM_001389599.1:c.450C>T, NM_001389600.1:c.450C>T, NM_001400298.1:c.450C>T, NM_001400299.1:c.450C>T, NM_001389605.1:c.495C>T, NM_001389597.1:c.495C>T, NM_001389606.1:c.495C>T, NM_001389608.1:c.495C>T, NM_001389607.1:c.450C>T, XM_005264823.4:c.495C>T, XM_005264823.3:c.495C>T, XM_005264823.2:c.495C>T, XM_005264823.1:c.495C>T, XM_006712946.4:c.495C>T, XM_006712946.3:c.495C>T, XM_006712946.2:c.495C>T, XM_006712946.1:c.495C>T, XM_005264824.3:c.495C>T, XM_005264824.2:c.495C>T, XM_005264824.1:c.495C>T, XM_005264827.3:c.450C>T, XM_005264827.2:c.450C>T, XM_005264827.1:c.450C>T, XM_006712947.3:c.450C>T, XM_006712947.2:c.450C>T, XM_006712947.1:c.450C>T, XM_017005627.2:c.450C>T, XM_017005627.1:c.450C>T, XM_047447341.1:c.495C>T, XM_047447346.1:c.495C>T, XM_047447342.1:c.450C>T, XM_047447343.1:c.450C>T, XM_047447344.1:c.450C>T, XM_047447345.1:c.450C>T, XM_047447347.1:c.450C>T, XM_047447349.1:c.450C>T, XM_047447348.1:c.495C>T, XM_047447350.1:c.450C>T, XM_047447351.1:c.450C>T, XM_047447352.1:c.450C>T, XM_047447353.1:c.450C>T

                        12.

                        rs1481003801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          3:49116467 (GRCh38)
                          3:49153900 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:49116466:G:A
                          Gene:
                          USP19 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000003.12:g.49116467G>A, NC_000003.11:g.49153900G>A, NG_054716.1:g.9472C>T, NM_006677.3:c.964C>T, NM_006677.2:c.964C>T, NM_001351100.2:c.1264C>T, NM_001351100.1:c.1264C>T, NM_001199160.2:c.1267C>T, NM_001199160.1:c.1267C>T, NM_001351101.2:c.1273C>T, NM_001351101.1:c.1273C>T, NM_001199161.2:c.1267C>T, NM_001199161.1:c.1267C>T, NM_001351099.2:c.1264C>T, NM_001351099.1:c.1264C>T, NM_001199162.2:c.1237C>T, NM_001199162.1:c.1237C>T, NM_001351098.2:c.1228C>T, NM_001351098.1:c.1228C>T, NM_001351107.2:c.1222C>T, NM_001351107.1:c.1222C>T, NM_001351105.2:c.1117C>T, NM_001351105.1:c.1117C>T, NM_001351104.2:c.970C>T, NM_001351104.1:c.970C>T, NM_001351106.2:c.964C>T, NM_001351106.1:c.964C>T, NM_001351103.2:c.970C>T, NM_001351103.1:c.970C>T, NM_001351108.2:c.925C>T, NM_001351108.1:c.925C>T, NM_001351102.2:c.919C>T, NM_001351102.1:c.919C>T, NM_001400288.1:c.1267C>T, NM_001400292.1:c.1267C>T, NM_001400293.1:c.1267C>T, NM_001400297.1:c.1222C>T, NM_001389595.1:c.1273C>T, NM_001389594.1:c.1267C>T, NM_001389602.1:c.1264C>T, NM_001389596.1:c.1273C>T, NM_001400290.1:c.1270C>T, NM_001389604.1:c.1264C>T, NM_001389598.1:c.1267C>T, NM_001389603.1:c.1222C>T, NM_001400294.1:c.1267C>T, NM_001389601.1:c.1222C>T, NM_001400295.1:c.1225C>T, NM_001400296.1:c.1228C>T, NM_001389599.1:c.1219C>T, NM_001389600.1:c.1222C>T, NM_001400298.1:c.1219C>T, NM_001400299.1:c.1192C>T, NM_001389605.1:c.1117C>T, NM_001389597.1:c.970C>T, NM_001389606.1:c.964C>T, NM_001389608.1:c.964C>T, NM_001389607.1:c.919C>T, XM_005264823.4:c.1273C>T, XM_005264823.3:c.1273C>T, XM_005264823.2:c.1273C>T, XM_005264823.1:c.1273C>T, XM_006712946.4:c.1270C>T, XM_006712946.3:c.1270C>T, XM_006712946.2:c.1270C>T, XM_006712946.1:c.1270C>T, XM_005264824.3:c.1273C>T, XM_005264824.2:c.1273C>T, XM_005264824.1:c.1273C>T, XM_005264827.3:c.1228C>T, XM_005264827.2:c.1228C>T, XM_005264827.1:c.1228C>T, XM_006712947.3:c.1219C>T, XM_006712947.2:c.1219C>T, XM_006712947.1:c.1219C>T, XM_017005627.2:c.925C>T, XM_017005627.1:c.925C>T, XM_047447341.1:c.1270C>T, XM_047447346.1:c.1270C>T, XM_047447342.1:c.1225C>T, XM_047447343.1:c.1228C>T, XM_047447344.1:c.1225C>T, XM_047447345.1:c.1219C>T, XM_047447347.1:c.1225C>T, XM_047447349.1:c.1072C>T, XM_047447348.1:c.970C>T, XM_047447350.1:c.925C>T, XM_047447351.1:c.919C>T, XM_047447352.1:c.925C>T, XM_047447353.1:c.919C>T, NP_006668.1:p.Leu322Phe, NP_001338029.1:p.Leu422Phe, NP_001186089.1:p.Leu423Phe, NP_001338030.1:p.Leu425Phe, NP_001186090.1:p.Leu423Phe, NP_001338028.1:p.Leu422Phe, NP_001186091.1:p.Leu413Phe, NP_001338027.1:p.Leu410Phe, NP_001338036.1:p.Leu408Phe, NP_001338034.1:p.Leu373Phe, NP_001338033.1:p.Leu324Phe, NP_001338035.1:p.Leu322Phe, NP_001338032.1:p.Leu324Phe, NP_001338037.1:p.Leu309Phe, NP_001338031.1:p.Leu307Phe, NP_001387217.1:p.Leu423Phe, NP_001387221.1:p.Leu423Phe, NP_001387222.1:p.Leu423Phe, NP_001387226.1:p.Leu408Phe, NP_001376524.1:p.Leu425Phe, NP_001376523.1:p.Leu423Phe, NP_001376531.1:p.Leu422Phe, NP_001376525.1:p.Leu425Phe, NP_001387219.1:p.Leu424Phe, NP_001376533.1:p.Leu422Phe, NP_001376527.1:p.Leu423Phe, NP_001376532.1:p.Leu408Phe, NP_001387223.1:p.Leu423Phe, NP_001376530.1:p.Leu408Phe, NP_001387224.1:p.Leu409Phe, NP_001387225.1:p.Leu410Phe, NP_001376528.1:p.Leu407Phe, NP_001376529.1:p.Leu408Phe, NP_001387227.1:p.Leu407Phe, NP_001387228.1:p.Leu398Phe, NP_001376534.1:p.Leu373Phe, NP_001376526.1:p.Leu324Phe, NP_001376535.1:p.Leu322Phe, NP_001376537.1:p.Leu322Phe, NP_001376536.1:p.Leu307Phe, XP_005264880.1:p.Leu425Phe, XP_006713009.1:p.Leu424Phe, XP_005264881.1:p.Leu425Phe, XP_005264884.1:p.Leu410Phe, XP_006713010.1:p.Leu407Phe, XP_016861116.1:p.Leu309Phe, XP_047303297.1:p.Leu424Phe, XP_047303302.1:p.Leu424Phe, XP_047303298.1:p.Leu409Phe, XP_047303299.1:p.Leu410Phe, XP_047303300.1:p.Leu409Phe, XP_047303301.1:p.Leu407Phe, XP_047303303.1:p.Leu409Phe, XP_047303305.1:p.Leu358Phe, XP_047303304.1:p.Leu324Phe, XP_047303306.1:p.Leu309Phe, XP_047303307.1:p.Leu307Phe, XP_047303308.1:p.Leu309Phe, XP_047303309.1:p.Leu307Phe

                          13.

                          rs1479899899 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:49114199 (GRCh38)
                            3:49151632 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:49114198:C:T
                            Gene:
                            USP19 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000029/4 (GnomAD)
                            HGVS:
                            NC_000003.12:g.49114199C>T, NC_000003.11:g.49151632C>T, NG_054716.1:g.11740G>A, NM_006677.3:c.2069G>A, NM_006677.2:c.2069G>A, NM_001351100.2:c.2375G>A, NM_001351100.1:c.2375G>A, NM_001199160.2:c.2372G>A, NM_001199160.1:c.2372G>A, NM_001351101.2:c.2378G>A, NM_001351101.1:c.2378G>A, NM_001199161.2:c.2378G>A, NM_001199161.1:c.2378G>A, NM_001351099.2:c.2369G>A, NM_001351099.1:c.2369G>A, NM_001199162.2:c.2342G>A, NM_001199162.1:c.2342G>A, NM_001351098.2:c.2339G>A, NM_001351098.1:c.2339G>A, NM_001351107.2:c.2333G>A, NM_001351107.1:c.2333G>A, NM_001351105.2:c.2222G>A, NM_001351105.1:c.2222G>A, NM_001351104.2:c.2081G>A, NM_001351104.1:c.2081G>A, NM_001351106.2:c.2075G>A, NM_001351106.1:c.2075G>A, NM_001351103.2:c.2075G>A, NM_001351103.1:c.2075G>A, NM_001351108.2:c.2036G>A, NM_001351108.1:c.2036G>A, NM_001351102.2:c.2030G>A, NM_001351102.1:c.2030G>A, NM_001400288.1:c.2378G>A, NM_001400292.1:c.2378G>A, NM_001400293.1:c.2372G>A, NM_001400297.1:c.2333G>A, NM_001389595.1:c.2378G>A, NM_001389594.1:c.2378G>A, NM_001389602.1:c.2369G>A, NM_001389596.1:c.2384G>A, NM_001400290.1:c.2381G>A, NM_001389604.1:c.2375G>A, NM_001389598.1:c.2372G>A, NM_001389603.1:c.2333G>A, NM_001400294.1:c.2372G>A, NM_001389601.1:c.2327G>A, NM_001400295.1:c.2336G>A, NM_001400296.1:c.2333G>A, NM_001389599.1:c.2330G>A, NM_001389600.1:c.2327G>A, NM_001400298.1:c.2324G>A, NM_001400299.1:c.2303G>A, NM_001389605.1:c.2222G>A, NM_001389597.1:c.2081G>A, NM_001389606.1:c.2075G>A, NM_001389608.1:c.2069G>A, NM_001389607.1:c.2030G>A, XM_005264823.4:c.2384G>A, XM_005264823.3:c.2384G>A, XM_005264823.2:c.2384G>A, XM_005264823.1:c.2384G>A, XM_006712946.4:c.2381G>A, XM_006712946.3:c.2381G>A, XM_006712946.2:c.2381G>A, XM_006712946.1:c.2381G>A, XM_005264824.3:c.2384G>A, XM_005264824.2:c.2384G>A, XM_005264824.1:c.2384G>A, XM_005264827.3:c.2339G>A, XM_005264827.2:c.2339G>A, XM_005264827.1:c.2339G>A, XM_006712947.3:c.2330G>A, XM_006712947.2:c.2330G>A, XM_006712947.1:c.2330G>A, XM_017005627.2:c.2036G>A, XM_017005627.1:c.2036G>A, XM_047447341.1:c.2375G>A, XM_047447346.1:c.2375G>A, XM_047447342.1:c.2336G>A, XM_047447343.1:c.2333G>A, XM_047447344.1:c.2330G>A, XM_047447345.1:c.2324G>A, XM_047447347.1:c.2330G>A, XM_047447349.1:c.2183G>A, XM_047447348.1:c.2075G>A, XM_047447350.1:c.2030G>A, XM_047447351.1:c.2024G>A, XM_047447352.1:c.2030G>A, XM_047447353.1:c.2024G>A, NP_006668.1:p.Arg690Gln, NP_001338029.1:p.Arg792Gln, NP_001186089.1:p.Arg791Gln, NP_001338030.1:p.Arg793Gln, NP_001186090.1:p.Arg793Gln, NP_001338028.1:p.Arg790Gln, NP_001186091.1:p.Arg781Gln, NP_001338027.1:p.Arg780Gln, NP_001338036.1:p.Arg778Gln, NP_001338034.1:p.Arg741Gln, NP_001338033.1:p.Arg694Gln, NP_001338035.1:p.Arg692Gln, NP_001338032.1:p.Arg692Gln, NP_001338037.1:p.Arg679Gln, NP_001338031.1:p.Arg677Gln, NP_001387217.1:p.Arg793Gln, NP_001387221.1:p.Arg793Gln, NP_001387222.1:p.Arg791Gln, NP_001387226.1:p.Arg778Gln, NP_001376524.1:p.Arg793Gln, NP_001376523.1:p.Arg793Gln, NP_001376531.1:p.Arg790Gln, NP_001376525.1:p.Arg795Gln, NP_001387219.1:p.Arg794Gln, NP_001376533.1:p.Arg792Gln, NP_001376527.1:p.Arg791Gln, NP_001376532.1:p.Arg778Gln, NP_001387223.1:p.Arg791Gln, NP_001376530.1:p.Arg776Gln, NP_001387224.1:p.Arg779Gln, NP_001387225.1:p.Arg778Gln, NP_001376528.1:p.Arg777Gln, NP_001376529.1:p.Arg776Gln, NP_001387227.1:p.Arg775Gln, NP_001387228.1:p.Arg768Gln, NP_001376534.1:p.Arg741Gln, NP_001376526.1:p.Arg694Gln, NP_001376535.1:p.Arg692Gln, NP_001376537.1:p.Arg690Gln, NP_001376536.1:p.Arg677Gln, XP_005264880.1:p.Arg795Gln, XP_006713009.1:p.Arg794Gln, XP_005264881.1:p.Arg795Gln, XP_005264884.1:p.Arg780Gln, XP_006713010.1:p.Arg777Gln, XP_016861116.1:p.Arg679Gln, XP_047303297.1:p.Arg792Gln, XP_047303302.1:p.Arg792Gln, XP_047303298.1:p.Arg779Gln, XP_047303299.1:p.Arg778Gln, XP_047303300.1:p.Arg777Gln, XP_047303301.1:p.Arg775Gln, XP_047303303.1:p.Arg777Gln, XP_047303305.1:p.Arg728Gln, XP_047303304.1:p.Arg692Gln, XP_047303306.1:p.Arg677Gln, XP_047303307.1:p.Arg675Gln, XP_047303308.1:p.Arg677Gln, XP_047303309.1:p.Arg675Gln

                            14.

                            rs1478856365 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:49117680 (GRCh38)
                              3:49155113 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:49117679:G:A
                              Gene:
                              USP19 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.49117680G>A, NC_000003.11:g.49155113G>A, NG_054716.1:g.8259C>T, NM_006677.3:c.449C>T, NM_006677.2:c.449C>T, NM_001351100.2:c.449C>T, NM_001351100.1:c.449C>T, NM_001199160.2:c.449C>T, NM_001199160.1:c.449C>T, NM_001351101.2:c.449C>T, NM_001351101.1:c.449C>T, NM_001199161.2:c.449C>T, NM_001199161.1:c.449C>T, NM_001351099.2:c.449C>T, NM_001351099.1:c.449C>T, NM_001199162.2:c.449C>T, NM_001199162.1:c.449C>T, NM_001351098.2:c.404C>T, NM_001351098.1:c.404C>T, NM_001351107.2:c.404C>T, NM_001351107.1:c.404C>T, NM_001351105.2:c.449C>T, NM_001351105.1:c.449C>T, NM_001351104.2:c.449C>T, NM_001351104.1:c.449C>T, NM_001351106.2:c.449C>T, NM_001351106.1:c.449C>T, NM_001351103.2:c.449C>T, NM_001351103.1:c.449C>T, NM_001351108.2:c.404C>T, NM_001351108.1:c.404C>T, NM_001351102.2:c.404C>T, NM_001351102.1:c.404C>T, NM_001400288.1:c.449C>T, NM_001400292.1:c.449C>T, NM_001400293.1:c.449C>T, NM_001400297.1:c.404C>T, NM_001389595.1:c.449C>T, NM_001389594.1:c.449C>T, NM_001389602.1:c.449C>T, NM_001389596.1:c.449C>T, NM_001400290.1:c.449C>T, NM_001389604.1:c.449C>T, NM_001389598.1:c.449C>T, NM_001389603.1:c.404C>T, NM_001400294.1:c.449C>T, NM_001389601.1:c.404C>T, NM_001400295.1:c.404C>T, NM_001400296.1:c.404C>T, NM_001389599.1:c.404C>T, NM_001389600.1:c.404C>T, NM_001400298.1:c.404C>T, NM_001400299.1:c.404C>T, NM_001389605.1:c.449C>T, NM_001389597.1:c.449C>T, NM_001389606.1:c.449C>T, NM_001389608.1:c.449C>T, NM_001389607.1:c.404C>T, XM_005264823.4:c.449C>T, XM_005264823.3:c.449C>T, XM_005264823.2:c.449C>T, XM_005264823.1:c.449C>T, XM_006712946.4:c.449C>T, XM_006712946.3:c.449C>T, XM_006712946.2:c.449C>T, XM_006712946.1:c.449C>T, XM_005264824.3:c.449C>T, XM_005264824.2:c.449C>T, XM_005264824.1:c.449C>T, XM_005264827.3:c.404C>T, XM_005264827.2:c.404C>T, XM_005264827.1:c.404C>T, XM_006712947.3:c.404C>T, XM_006712947.2:c.404C>T, XM_006712947.1:c.404C>T, XM_017005627.2:c.404C>T, XM_017005627.1:c.404C>T, XM_047447341.1:c.449C>T, XM_047447346.1:c.449C>T, XM_047447342.1:c.404C>T, XM_047447343.1:c.404C>T, XM_047447344.1:c.404C>T, XM_047447345.1:c.404C>T, XM_047447347.1:c.404C>T, XM_047447349.1:c.404C>T, XM_047447348.1:c.449C>T, XM_047447350.1:c.404C>T, XM_047447351.1:c.404C>T, XM_047447352.1:c.404C>T, XM_047447353.1:c.404C>T, NP_006668.1:p.Thr150Ile, NP_001338029.1:p.Thr150Ile, NP_001186089.1:p.Thr150Ile, NP_001338030.1:p.Thr150Ile, NP_001186090.1:p.Thr150Ile, NP_001338028.1:p.Thr150Ile, NP_001186091.1:p.Thr150Ile, NP_001338027.1:p.Thr135Ile, NP_001338036.1:p.Thr135Ile, NP_001338034.1:p.Thr150Ile, NP_001338033.1:p.Thr150Ile, NP_001338035.1:p.Thr150Ile, NP_001338032.1:p.Thr150Ile, NP_001338037.1:p.Thr135Ile, NP_001338031.1:p.Thr135Ile, NP_001387217.1:p.Thr150Ile, NP_001387221.1:p.Thr150Ile, NP_001387222.1:p.Thr150Ile, NP_001387226.1:p.Thr135Ile, NP_001376524.1:p.Thr150Ile, NP_001376523.1:p.Thr150Ile, NP_001376531.1:p.Thr150Ile, NP_001376525.1:p.Thr150Ile, NP_001387219.1:p.Thr150Ile, NP_001376533.1:p.Thr150Ile, NP_001376527.1:p.Thr150Ile, NP_001376532.1:p.Thr135Ile, NP_001387223.1:p.Thr150Ile, NP_001376530.1:p.Thr135Ile, NP_001387224.1:p.Thr135Ile, NP_001387225.1:p.Thr135Ile, NP_001376528.1:p.Thr135Ile, NP_001376529.1:p.Thr135Ile, NP_001387227.1:p.Thr135Ile, NP_001387228.1:p.Thr135Ile, NP_001376534.1:p.Thr150Ile, NP_001376526.1:p.Thr150Ile, NP_001376535.1:p.Thr150Ile, NP_001376537.1:p.Thr150Ile, NP_001376536.1:p.Thr135Ile, XP_005264880.1:p.Thr150Ile, XP_006713009.1:p.Thr150Ile, XP_005264881.1:p.Thr150Ile, XP_005264884.1:p.Thr135Ile, XP_006713010.1:p.Thr135Ile, XP_016861116.1:p.Thr135Ile, XP_047303297.1:p.Thr150Ile, XP_047303302.1:p.Thr150Ile, XP_047303298.1:p.Thr135Ile, XP_047303299.1:p.Thr135Ile, XP_047303300.1:p.Thr135Ile, XP_047303301.1:p.Thr135Ile, XP_047303303.1:p.Thr135Ile, XP_047303305.1:p.Thr135Ile, XP_047303304.1:p.Thr150Ile, XP_047303306.1:p.Thr135Ile, XP_047303307.1:p.Thr135Ile, XP_047303308.1:p.Thr135Ile, XP_047303309.1:p.Thr135Ile

                              15.

                              rs1478481184 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->G [Show Flanks]
                                Chromosome:
                                3:49110246 (GRCh38)
                                3:49147680 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:49110246:GGGGGG:GGGGGGG
                                Gene:
                                USP19 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,frameshift_variant
                                HGVS:
                                NC_000003.12:g.49110252dup, NC_000003.11:g.49147685dup, NG_054716.1:g.15692dup, NM_006677.3:c.3666dup, NM_006677.2:c.3666dup, NM_001351100.2:c.3972dup, NM_001351100.1:c.3972dup, NM_001199160.2:c.3969dup, NM_001199160.1:c.3969dup, NM_001351101.2:c.3975dup, NM_001351101.1:c.3975dup, NM_001199161.2:c.3975dup, NM_001199161.1:c.3975dup, NM_001351099.2:c.3966dup, NM_001351099.1:c.3966dup, NM_001199162.2:c.3939dup, NM_001199162.1:c.3939dup, NM_001351098.2:c.3936dup, NM_001351098.1:c.3936dup, NM_001351107.2:c.3930dup, NM_001351107.1:c.3930dup, NM_001351105.2:c.3819dup, NM_001351105.1:c.3819dup, NM_001351104.2:c.3678dup, NM_001351104.1:c.3678dup, NM_001351106.2:c.3672dup, NM_001351106.1:c.3672dup, NM_001351103.2:c.3672dup, NM_001351103.1:c.3672dup, NM_001351108.2:c.3633dup, NM_001351108.1:c.3633dup, NM_001351102.2:c.3627dup, NM_001351102.1:c.3627dup, NM_001400288.1:c.3975dup, NM_001400292.1:c.3975dup, NM_001400293.1:c.3969dup, NM_001400297.1:c.3930dup, NM_001389595.1:c.3975dup, NM_001389594.1:c.3975dup, NM_001389602.1:c.3966dup, NM_001389596.1:c.3981dup, NM_001400290.1:c.3978dup, NM_001389604.1:c.3972dup, NM_001389598.1:c.3969dup, NM_001389603.1:c.3930dup, NM_001400294.1:c.3960dup, NM_001389601.1:c.3924dup, NM_001400295.1:c.3933dup, NM_001400296.1:c.3930dup, NM_001389599.1:c.3927dup, NM_001389600.1:c.3924dup, NM_001400298.1:c.3921dup, NM_001400299.1:c.3900dup, NM_001389605.1:c.3819dup, NM_001389597.1:c.3678dup, NM_001389606.1:c.3672dup, NM_001389608.1:c.3666dup, NM_001389607.1:c.3627dup, XM_005264823.4:c.3981dup, XM_005264823.3:c.3981dup, XM_005264823.2:c.3981dup, XM_005264823.1:c.3981dup, XM_006712946.4:c.3978dup, XM_006712946.3:c.3978dup, XM_006712946.2:c.3978dup, XM_006712946.1:c.3978dup, XM_005264824.3:c.3981dup, XM_005264824.2:c.3981dup, XM_005264824.1:c.3981dup, XM_005264827.3:c.3936dup, XM_005264827.2:c.3936dup, XM_005264827.1:c.3936dup, XM_006712947.3:c.3927dup, XM_006712947.2:c.3927dup, XM_006712947.1:c.3927dup, XM_017005627.2:c.3633dup, XM_017005627.1:c.3633dup, XM_047447341.1:c.3972dup, XM_047447346.1:c.3972dup, XM_047447342.1:c.3933dup, XM_047447343.1:c.3930dup, XM_047447344.1:c.3927dup, XM_047447345.1:c.3921dup, XM_047447347.1:c.3927dup, XM_047447349.1:c.3780dup, XM_047447348.1:c.3672dup, XM_047447350.1:c.3627dup, XM_047447351.1:c.3621dup, XM_047447352.1:c.3627dup, XM_047447353.1:c.3621dup, NP_006668.1:p.Arg1223fs, NP_001338029.1:p.Arg1325fs, NP_001186089.1:p.Arg1324fs, NP_001338030.1:p.Arg1326fs, NP_001186090.1:p.Arg1326fs, NP_001338028.1:p.Arg1323fs, NP_001186091.1:p.Arg1314fs, NP_001338027.1:p.Arg1313fs, NP_001338036.1:p.Arg1311fs, NP_001338034.1:p.Arg1274fs, NP_001338033.1:p.Arg1227fs, NP_001338035.1:p.Arg1225fs, NP_001338032.1:p.Arg1225fs, NP_001338037.1:p.Arg1212fs, NP_001338031.1:p.Arg1210fs, NP_001387217.1:p.Arg1326fs, NP_001387221.1:p.Arg1326fs, NP_001387222.1:p.Arg1324fs, NP_001387226.1:p.Arg1311fs, NP_001376524.1:p.Arg1326fs, NP_001376523.1:p.Arg1326fs, NP_001376531.1:p.Arg1323fs, NP_001376525.1:p.Arg1328fs, NP_001387219.1:p.Arg1327fs, NP_001376533.1:p.Arg1325fs, NP_001376527.1:p.Arg1324fs, NP_001376532.1:p.Arg1311fs, NP_001387223.1:p.Arg1321fs, NP_001376530.1:p.Arg1309fs, NP_001387224.1:p.Arg1312fs, NP_001387225.1:p.Arg1311fs, NP_001376528.1:p.Arg1310fs, NP_001376529.1:p.Arg1309fs, NP_001387227.1:p.Arg1308fs, NP_001387228.1:p.Arg1301fs, NP_001376534.1:p.Arg1274fs, NP_001376526.1:p.Arg1227fs, NP_001376535.1:p.Arg1225fs, NP_001376537.1:p.Arg1223fs, NP_001376536.1:p.Arg1210fs, XP_005264880.1:p.Arg1328fs, XP_006713009.1:p.Arg1327fs, XP_005264881.1:p.Arg1328fs, XP_005264884.1:p.Arg1313fs, XP_006713010.1:p.Arg1310fs, XP_016861116.1:p.Arg1212fs, XP_047303297.1:p.Arg1325fs, XP_047303302.1:p.Arg1325fs, XP_047303298.1:p.Arg1312fs, XP_047303299.1:p.Arg1311fs, XP_047303300.1:p.Arg1310fs, XP_047303301.1:p.Arg1308fs, XP_047303303.1:p.Arg1310fs, XP_047303305.1:p.Arg1261fs, XP_047303304.1:p.Arg1225fs, XP_047303306.1:p.Arg1210fs, XP_047303307.1:p.Arg1208fs, XP_047303308.1:p.Arg1210fs, XP_047303309.1:p.Arg1208fs

                                16.

                                rs1478256101 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  3:49112025 (GRCh38)
                                  3:49149458 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:49112024:G:A
                                  Gene:
                                  USP19 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000071/1 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000003.12:g.49112025G>A, NC_000003.11:g.49149458G>A, NG_054716.1:g.13914C>T, NM_006677.3:c.2480C>T, NM_006677.2:c.2480C>T, NM_001351100.2:c.2786C>T, NM_001351100.1:c.2786C>T, NM_001199160.2:c.2783C>T, NM_001199160.1:c.2783C>T, NM_001351101.2:c.2789C>T, NM_001351101.1:c.2789C>T, NM_001199161.2:c.2789C>T, NM_001199161.1:c.2789C>T, NM_001351099.2:c.2780C>T, NM_001351099.1:c.2780C>T, NM_001199162.2:c.2753C>T, NM_001199162.1:c.2753C>T, NM_001351098.2:c.2750C>T, NM_001351098.1:c.2750C>T, NM_001351107.2:c.2744C>T, NM_001351107.1:c.2744C>T, NM_001351105.2:c.2633C>T, NM_001351105.1:c.2633C>T, NM_001351104.2:c.2492C>T, NM_001351104.1:c.2492C>T, NM_001351106.2:c.2486C>T, NM_001351106.1:c.2486C>T, NM_001351103.2:c.2486C>T, NM_001351103.1:c.2486C>T, NM_001351108.2:c.2447C>T, NM_001351108.1:c.2447C>T, NM_001351102.2:c.2441C>T, NM_001351102.1:c.2441C>T, NM_001400288.1:c.2789C>T, NM_001400292.1:c.2789C>T, NM_001400293.1:c.2783C>T, NM_001400297.1:c.2744C>T, NM_001389595.1:c.2789C>T, NM_001389594.1:c.2789C>T, NM_001389602.1:c.2780C>T, NM_001389596.1:c.2795C>T, NM_001400290.1:c.2792C>T, NM_001389604.1:c.2786C>T, NM_001389598.1:c.2783C>T, NM_001389603.1:c.2744C>T, NM_001400294.1:c.2774C>T, NM_001389601.1:c.2738C>T, NM_001400295.1:c.2747C>T, NM_001400296.1:c.2744C>T, NM_001389599.1:c.2741C>T, NM_001389600.1:c.2738C>T, NM_001400298.1:c.2735C>T, NM_001400299.1:c.2714C>T, NM_001389605.1:c.2633C>T, NM_001389597.1:c.2492C>T, NM_001389606.1:c.2486C>T, NM_001389608.1:c.2480C>T, NM_001389607.1:c.2441C>T, XM_005264823.4:c.2795C>T, XM_005264823.3:c.2795C>T, XM_005264823.2:c.2795C>T, XM_005264823.1:c.2795C>T, XM_006712946.4:c.2792C>T, XM_006712946.3:c.2792C>T, XM_006712946.2:c.2792C>T, XM_006712946.1:c.2792C>T, XM_005264824.3:c.2795C>T, XM_005264824.2:c.2795C>T, XM_005264824.1:c.2795C>T, XM_005264827.3:c.2750C>T, XM_005264827.2:c.2750C>T, XM_005264827.1:c.2750C>T, XM_006712947.3:c.2741C>T, XM_006712947.2:c.2741C>T, XM_006712947.1:c.2741C>T, XM_017005627.2:c.2447C>T, XM_017005627.1:c.2447C>T, XM_047447341.1:c.2786C>T, XM_047447346.1:c.2786C>T, XM_047447342.1:c.2747C>T, XM_047447343.1:c.2744C>T, XM_047447344.1:c.2741C>T, XM_047447345.1:c.2735C>T, XM_047447347.1:c.2741C>T, XM_047447349.1:c.2594C>T, XM_047447348.1:c.2486C>T, XM_047447350.1:c.2441C>T, XM_047447351.1:c.2435C>T, XM_047447352.1:c.2441C>T, XM_047447353.1:c.2435C>T, NP_006668.1:p.Pro827Leu, NP_001338029.1:p.Pro929Leu, NP_001186089.1:p.Pro928Leu, NP_001338030.1:p.Pro930Leu, NP_001186090.1:p.Pro930Leu, NP_001338028.1:p.Pro927Leu, NP_001186091.1:p.Pro918Leu, NP_001338027.1:p.Pro917Leu, NP_001338036.1:p.Pro915Leu, NP_001338034.1:p.Pro878Leu, NP_001338033.1:p.Pro831Leu, NP_001338035.1:p.Pro829Leu, NP_001338032.1:p.Pro829Leu, NP_001338037.1:p.Pro816Leu, NP_001338031.1:p.Pro814Leu, NP_001387217.1:p.Pro930Leu, NP_001387221.1:p.Pro930Leu, NP_001387222.1:p.Pro928Leu, NP_001387226.1:p.Pro915Leu, NP_001376524.1:p.Pro930Leu, NP_001376523.1:p.Pro930Leu, NP_001376531.1:p.Pro927Leu, NP_001376525.1:p.Pro932Leu, NP_001387219.1:p.Pro931Leu, NP_001376533.1:p.Pro929Leu, NP_001376527.1:p.Pro928Leu, NP_001376532.1:p.Pro915Leu, NP_001387223.1:p.Pro925Leu, NP_001376530.1:p.Pro913Leu, NP_001387224.1:p.Pro916Leu, NP_001387225.1:p.Pro915Leu, NP_001376528.1:p.Pro914Leu, NP_001376529.1:p.Pro913Leu, NP_001387227.1:p.Pro912Leu, NP_001387228.1:p.Pro905Leu, NP_001376534.1:p.Pro878Leu, NP_001376526.1:p.Pro831Leu, NP_001376535.1:p.Pro829Leu, NP_001376537.1:p.Pro827Leu, NP_001376536.1:p.Pro814Leu, XP_005264880.1:p.Pro932Leu, XP_006713009.1:p.Pro931Leu, XP_005264881.1:p.Pro932Leu, XP_005264884.1:p.Pro917Leu, XP_006713010.1:p.Pro914Leu, XP_016861116.1:p.Pro816Leu, XP_047303297.1:p.Pro929Leu, XP_047303302.1:p.Pro929Leu, XP_047303298.1:p.Pro916Leu, XP_047303299.1:p.Pro915Leu, XP_047303300.1:p.Pro914Leu, XP_047303301.1:p.Pro912Leu, XP_047303303.1:p.Pro914Leu, XP_047303305.1:p.Pro865Leu, XP_047303304.1:p.Pro829Leu, XP_047303306.1:p.Pro814Leu, XP_047303307.1:p.Pro812Leu, XP_047303308.1:p.Pro814Leu, XP_047303309.1:p.Pro812Leu

                                  17.

                                  rs1477509389 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:49114254 (GRCh38)
                                    3:49151687 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:49114253:G:A
                                    Gene:
                                    USP19 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000003.12:g.49114254G>A, NC_000003.11:g.49151687G>A, NG_054716.1:g.11685C>T, NM_006677.3:c.2014C>T, NM_006677.2:c.2014C>T, NM_001351100.2:c.2320C>T, NM_001351100.1:c.2320C>T, NM_001199160.2:c.2317C>T, NM_001199160.1:c.2317C>T, NM_001351101.2:c.2323C>T, NM_001351101.1:c.2323C>T, NM_001199161.2:c.2323C>T, NM_001199161.1:c.2323C>T, NM_001351099.2:c.2314C>T, NM_001351099.1:c.2314C>T, NM_001199162.2:c.2287C>T, NM_001199162.1:c.2287C>T, NM_001351098.2:c.2284C>T, NM_001351098.1:c.2284C>T, NM_001351107.2:c.2278C>T, NM_001351107.1:c.2278C>T, NM_001351105.2:c.2167C>T, NM_001351105.1:c.2167C>T, NM_001351104.2:c.2026C>T, NM_001351104.1:c.2026C>T, NM_001351106.2:c.2020C>T, NM_001351106.1:c.2020C>T, NM_001351103.2:c.2020C>T, NM_001351103.1:c.2020C>T, NM_001351108.2:c.1981C>T, NM_001351108.1:c.1981C>T, NM_001351102.2:c.1975C>T, NM_001351102.1:c.1975C>T, NM_001400288.1:c.2323C>T, NM_001400292.1:c.2323C>T, NM_001400293.1:c.2317C>T, NM_001400297.1:c.2278C>T, NM_001389595.1:c.2323C>T, NM_001389594.1:c.2323C>T, NM_001389602.1:c.2314C>T, NM_001389596.1:c.2329C>T, NM_001400290.1:c.2326C>T, NM_001389604.1:c.2320C>T, NM_001389598.1:c.2317C>T, NM_001389603.1:c.2278C>T, NM_001400294.1:c.2317C>T, NM_001389601.1:c.2272C>T, NM_001400295.1:c.2281C>T, NM_001400296.1:c.2278C>T, NM_001389599.1:c.2275C>T, NM_001389600.1:c.2272C>T, NM_001400298.1:c.2269C>T, NM_001400299.1:c.2248C>T, NM_001389605.1:c.2167C>T, NM_001389597.1:c.2026C>T, NM_001389606.1:c.2020C>T, NM_001389608.1:c.2014C>T, NM_001389607.1:c.1975C>T, XM_005264823.4:c.2329C>T, XM_005264823.3:c.2329C>T, XM_005264823.2:c.2329C>T, XM_005264823.1:c.2329C>T, XM_006712946.4:c.2326C>T, XM_006712946.3:c.2326C>T, XM_006712946.2:c.2326C>T, XM_006712946.1:c.2326C>T, XM_005264824.3:c.2329C>T, XM_005264824.2:c.2329C>T, XM_005264824.1:c.2329C>T, XM_005264827.3:c.2284C>T, XM_005264827.2:c.2284C>T, XM_005264827.1:c.2284C>T, XM_006712947.3:c.2275C>T, XM_006712947.2:c.2275C>T, XM_006712947.1:c.2275C>T, XM_017005627.2:c.1981C>T, XM_017005627.1:c.1981C>T, XM_047447341.1:c.2320C>T, XM_047447346.1:c.2320C>T, XM_047447342.1:c.2281C>T, XM_047447343.1:c.2278C>T, XM_047447344.1:c.2275C>T, XM_047447345.1:c.2269C>T, XM_047447347.1:c.2275C>T, XM_047447349.1:c.2128C>T, XM_047447348.1:c.2020C>T, XM_047447350.1:c.1975C>T, XM_047447351.1:c.1969C>T, XM_047447352.1:c.1975C>T, XM_047447353.1:c.1969C>T

                                    18.

                                    rs1476776437 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:49111545 (GRCh38)
                                      3:49148978 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:49111544:C:T
                                      Gene:
                                      USP19 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000003.12:g.49111545C>T, NC_000003.11:g.49148978C>T, NG_054716.1:g.14394G>A, NM_006677.3:c.2863G>A, NM_006677.2:c.2863G>A, NM_001351100.2:c.3169G>A, NM_001351100.1:c.3169G>A, NM_001199160.2:c.3166G>A, NM_001199160.1:c.3166G>A, NM_001351101.2:c.3172G>A, NM_001351101.1:c.3172G>A, NM_001199161.2:c.3172G>A, NM_001199161.1:c.3172G>A, NM_001351099.2:c.3163G>A, NM_001351099.1:c.3163G>A, NM_001199162.2:c.3136G>A, NM_001199162.1:c.3136G>A, NM_001351098.2:c.3133G>A, NM_001351098.1:c.3133G>A, NM_001351107.2:c.3127G>A, NM_001351107.1:c.3127G>A, NM_001351105.2:c.3016G>A, NM_001351105.1:c.3016G>A, NM_001351104.2:c.2875G>A, NM_001351104.1:c.2875G>A, NM_001351106.2:c.2869G>A, NM_001351106.1:c.2869G>A, NM_001351103.2:c.2869G>A, NM_001351103.1:c.2869G>A, NM_001351108.2:c.2830G>A, NM_001351108.1:c.2830G>A, NM_001351102.2:c.2824G>A, NM_001351102.1:c.2824G>A, NM_001400288.1:c.3172G>A, NM_001400292.1:c.3172G>A, NM_001400293.1:c.3166G>A, NM_001400297.1:c.3127G>A, NM_001389595.1:c.3172G>A, NM_001389594.1:c.3172G>A, NM_001389602.1:c.3163G>A, NM_001389596.1:c.3178G>A, NM_001400290.1:c.3175G>A, NM_001389604.1:c.3169G>A, NM_001389598.1:c.3166G>A, NM_001389603.1:c.3127G>A, NM_001400294.1:c.3157G>A, NM_001389601.1:c.3121G>A, NM_001400295.1:c.3130G>A, NM_001400296.1:c.3127G>A, NM_001389599.1:c.3124G>A, NM_001389600.1:c.3121G>A, NM_001400298.1:c.3118G>A, NM_001400299.1:c.3097G>A, NM_001389605.1:c.3016G>A, NM_001389597.1:c.2875G>A, NM_001389606.1:c.2869G>A, NM_001389608.1:c.2863G>A, NM_001389607.1:c.2824G>A, XM_005264823.4:c.3178G>A, XM_005264823.3:c.3178G>A, XM_005264823.2:c.3178G>A, XM_005264823.1:c.3178G>A, XM_006712946.4:c.3175G>A, XM_006712946.3:c.3175G>A, XM_006712946.2:c.3175G>A, XM_006712946.1:c.3175G>A, XM_005264824.3:c.3178G>A, XM_005264824.2:c.3178G>A, XM_005264824.1:c.3178G>A, XM_005264827.3:c.3133G>A, XM_005264827.2:c.3133G>A, XM_005264827.1:c.3133G>A, XM_006712947.3:c.3124G>A, XM_006712947.2:c.3124G>A, XM_006712947.1:c.3124G>A, XM_017005627.2:c.2830G>A, XM_017005627.1:c.2830G>A, XM_047447341.1:c.3169G>A, XM_047447346.1:c.3169G>A, XM_047447342.1:c.3130G>A, XM_047447343.1:c.3127G>A, XM_047447344.1:c.3124G>A, XM_047447345.1:c.3118G>A, XM_047447347.1:c.3124G>A, XM_047447349.1:c.2977G>A, XM_047447348.1:c.2869G>A, XM_047447350.1:c.2824G>A, XM_047447351.1:c.2818G>A, XM_047447352.1:c.2824G>A, XM_047447353.1:c.2818G>A, NP_006668.1:p.Glu955Lys, NP_001338029.1:p.Glu1057Lys, NP_001186089.1:p.Glu1056Lys, NP_001338030.1:p.Glu1058Lys, NP_001186090.1:p.Glu1058Lys, NP_001338028.1:p.Glu1055Lys, NP_001186091.1:p.Glu1046Lys, NP_001338027.1:p.Glu1045Lys, NP_001338036.1:p.Glu1043Lys, NP_001338034.1:p.Glu1006Lys, NP_001338033.1:p.Glu959Lys, NP_001338035.1:p.Glu957Lys, NP_001338032.1:p.Glu957Lys, NP_001338037.1:p.Glu944Lys, NP_001338031.1:p.Glu942Lys, NP_001387217.1:p.Glu1058Lys, NP_001387221.1:p.Glu1058Lys, NP_001387222.1:p.Glu1056Lys, NP_001387226.1:p.Glu1043Lys, NP_001376524.1:p.Glu1058Lys, NP_001376523.1:p.Glu1058Lys, NP_001376531.1:p.Glu1055Lys, NP_001376525.1:p.Glu1060Lys, NP_001387219.1:p.Glu1059Lys, NP_001376533.1:p.Glu1057Lys, NP_001376527.1:p.Glu1056Lys, NP_001376532.1:p.Glu1043Lys, NP_001387223.1:p.Glu1053Lys, NP_001376530.1:p.Glu1041Lys, NP_001387224.1:p.Glu1044Lys, NP_001387225.1:p.Glu1043Lys, NP_001376528.1:p.Glu1042Lys, NP_001376529.1:p.Glu1041Lys, NP_001387227.1:p.Glu1040Lys, NP_001387228.1:p.Glu1033Lys, NP_001376534.1:p.Glu1006Lys, NP_001376526.1:p.Glu959Lys, NP_001376535.1:p.Glu957Lys, NP_001376537.1:p.Glu955Lys, NP_001376536.1:p.Glu942Lys, XP_005264880.1:p.Glu1060Lys, XP_006713009.1:p.Glu1059Lys, XP_005264881.1:p.Glu1060Lys, XP_005264884.1:p.Glu1045Lys, XP_006713010.1:p.Glu1042Lys, XP_016861116.1:p.Glu944Lys, XP_047303297.1:p.Glu1057Lys, XP_047303302.1:p.Glu1057Lys, XP_047303298.1:p.Glu1044Lys, XP_047303299.1:p.Glu1043Lys, XP_047303300.1:p.Glu1042Lys, XP_047303301.1:p.Glu1040Lys, XP_047303303.1:p.Glu1042Lys, XP_047303305.1:p.Glu993Lys, XP_047303304.1:p.Glu957Lys, XP_047303306.1:p.Glu942Lys, XP_047303307.1:p.Glu940Lys, XP_047303308.1:p.Glu942Lys, XP_047303309.1:p.Glu940Lys

                                      19.

                                      rs1476015749 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        3:49110591 (GRCh38)
                                        3:49148024 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:49110590:T:C
                                        Gene:
                                        USP19 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000111/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.49110591T>C, NC_000003.11:g.49148024T>C, NG_054716.1:g.15348A>G, NM_006677.3:c.3403A>G, NM_006677.2:c.3403A>G, NM_001351100.2:c.3709A>G, NM_001351100.1:c.3709A>G, NM_001199160.2:c.3706A>G, NM_001199160.1:c.3706A>G, NM_001351101.2:c.3712A>G, NM_001351101.1:c.3712A>G, NM_001199161.2:c.3712A>G, NM_001199161.1:c.3712A>G, NM_001351099.2:c.3703A>G, NM_001351099.1:c.3703A>G, NM_001199162.2:c.3676A>G, NM_001199162.1:c.3676A>G, NM_001351098.2:c.3673A>G, NM_001351098.1:c.3673A>G, NM_001351107.2:c.3667A>G, NM_001351107.1:c.3667A>G, NM_001351105.2:c.3556A>G, NM_001351105.1:c.3556A>G, NM_001351104.2:c.3415A>G, NM_001351104.1:c.3415A>G, NM_001351106.2:c.3409A>G, NM_001351106.1:c.3409A>G, NM_001351103.2:c.3409A>G, NM_001351103.1:c.3409A>G, NM_001351108.2:c.3370A>G, NM_001351108.1:c.3370A>G, NM_001351102.2:c.3364A>G, NM_001351102.1:c.3364A>G, NM_001400288.1:c.3712A>G, NM_001400292.1:c.3712A>G, NM_001400293.1:c.3706A>G, NM_001400297.1:c.3667A>G, NM_001389595.1:c.3712A>G, NM_001389594.1:c.3712A>G, NM_001389602.1:c.3703A>G, NM_001389596.1:c.3718A>G, NM_001400290.1:c.3715A>G, NM_001389604.1:c.3709A>G, NM_001389598.1:c.3706A>G, NM_001389603.1:c.3667A>G, NM_001400294.1:c.3697A>G, NM_001389601.1:c.3661A>G, NM_001400295.1:c.3670A>G, NM_001400296.1:c.3667A>G, NM_001389599.1:c.3664A>G, NM_001389600.1:c.3661A>G, NM_001400298.1:c.3658A>G, NM_001400299.1:c.3637A>G, NM_001389605.1:c.3556A>G, NM_001389597.1:c.3415A>G, NM_001389606.1:c.3409A>G, NM_001389608.1:c.3403A>G, NM_001389607.1:c.3364A>G, XM_005264823.4:c.3718A>G, XM_005264823.3:c.3718A>G, XM_005264823.2:c.3718A>G, XM_005264823.1:c.3718A>G, XM_006712946.4:c.3715A>G, XM_006712946.3:c.3715A>G, XM_006712946.2:c.3715A>G, XM_006712946.1:c.3715A>G, XM_005264824.3:c.3718A>G, XM_005264824.2:c.3718A>G, XM_005264824.1:c.3718A>G, XM_005264827.3:c.3673A>G, XM_005264827.2:c.3673A>G, XM_005264827.1:c.3673A>G, XM_006712947.3:c.3664A>G, XM_006712947.2:c.3664A>G, XM_006712947.1:c.3664A>G, XM_017005627.2:c.3370A>G, XM_017005627.1:c.3370A>G, XM_047447341.1:c.3709A>G, XM_047447346.1:c.3709A>G, XM_047447342.1:c.3670A>G, XM_047447343.1:c.3667A>G, XM_047447344.1:c.3664A>G, XM_047447345.1:c.3658A>G, XM_047447347.1:c.3664A>G, XM_047447349.1:c.3517A>G, XM_047447348.1:c.3409A>G, XM_047447350.1:c.3364A>G, XM_047447351.1:c.3358A>G, XM_047447352.1:c.3364A>G, XM_047447353.1:c.3358A>G, NP_006668.1:p.Ser1135Gly, NP_001338029.1:p.Ser1237Gly, NP_001186089.1:p.Ser1236Gly, NP_001338030.1:p.Ser1238Gly, NP_001186090.1:p.Ser1238Gly, NP_001338028.1:p.Ser1235Gly, NP_001186091.1:p.Ser1226Gly, NP_001338027.1:p.Ser1225Gly, NP_001338036.1:p.Ser1223Gly, NP_001338034.1:p.Ser1186Gly, NP_001338033.1:p.Ser1139Gly, NP_001338035.1:p.Ser1137Gly, NP_001338032.1:p.Ser1137Gly, NP_001338037.1:p.Ser1124Gly, NP_001338031.1:p.Ser1122Gly, NP_001387217.1:p.Ser1238Gly, NP_001387221.1:p.Ser1238Gly, NP_001387222.1:p.Ser1236Gly, NP_001387226.1:p.Ser1223Gly, NP_001376524.1:p.Ser1238Gly, NP_001376523.1:p.Ser1238Gly, NP_001376531.1:p.Ser1235Gly, NP_001376525.1:p.Ser1240Gly, NP_001387219.1:p.Ser1239Gly, NP_001376533.1:p.Ser1237Gly, NP_001376527.1:p.Ser1236Gly, NP_001376532.1:p.Ser1223Gly, NP_001387223.1:p.Ser1233Gly, NP_001376530.1:p.Ser1221Gly, NP_001387224.1:p.Ser1224Gly, NP_001387225.1:p.Ser1223Gly, NP_001376528.1:p.Ser1222Gly, NP_001376529.1:p.Ser1221Gly, NP_001387227.1:p.Ser1220Gly, NP_001387228.1:p.Ser1213Gly, NP_001376534.1:p.Ser1186Gly, NP_001376526.1:p.Ser1139Gly, NP_001376535.1:p.Ser1137Gly, NP_001376537.1:p.Ser1135Gly, NP_001376536.1:p.Ser1122Gly, XP_005264880.1:p.Ser1240Gly, XP_006713009.1:p.Ser1239Gly, XP_005264881.1:p.Ser1240Gly, XP_005264884.1:p.Ser1225Gly, XP_006713010.1:p.Ser1222Gly, XP_016861116.1:p.Ser1124Gly, XP_047303297.1:p.Ser1237Gly, XP_047303302.1:p.Ser1237Gly, XP_047303298.1:p.Ser1224Gly, XP_047303299.1:p.Ser1223Gly, XP_047303300.1:p.Ser1222Gly, XP_047303301.1:p.Ser1220Gly, XP_047303303.1:p.Ser1222Gly, XP_047303305.1:p.Ser1173Gly, XP_047303304.1:p.Ser1137Gly, XP_047303306.1:p.Ser1122Gly, XP_047303307.1:p.Ser1120Gly, XP_047303308.1:p.Ser1122Gly, XP_047303309.1:p.Ser1120Gly

                                        20.

                                        rs1475591299 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          3:49119106 (GRCh38)
                                          3:49156539 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:49119105:G:A
                                          Gene:
                                          USP19 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000057/2 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          A=0.000011/3 (TOPMED)
                                          A=0.000035/1 (TOMMO)
                                          HGVS:
                                          NC_000003.12:g.49119106G>A, NC_000003.11:g.49156539G>A, NG_054716.1:g.6833C>T, NM_006677.3:c.40C>T, NM_006677.2:c.40C>T, NM_001351100.2:c.40C>T, NM_001351100.1:c.40C>T, NM_001199160.2:c.40C>T, NM_001199160.1:c.40C>T, NM_001351101.2:c.40C>T, NM_001351101.1:c.40C>T, NM_001199161.2:c.40C>T, NM_001199161.1:c.40C>T, NM_001351099.2:c.40C>T, NM_001351099.1:c.40C>T, NM_001199162.2:c.40C>T, NM_001199162.1:c.40C>T, NM_001351098.2:c.40C>T, NM_001351098.1:c.40C>T, NM_001351107.2:c.40C>T, NM_001351107.1:c.40C>T, NM_001351105.2:c.40C>T, NM_001351105.1:c.40C>T, NM_001351104.2:c.40C>T, NM_001351104.1:c.40C>T, NM_001351106.2:c.40C>T, NM_001351106.1:c.40C>T, NM_001351103.2:c.40C>T, NM_001351103.1:c.40C>T, NM_001351108.2:c.40C>T, NM_001351108.1:c.40C>T, NM_001351102.2:c.40C>T, NM_001351102.1:c.40C>T, NM_001400288.1:c.40C>T, NM_001400292.1:c.40C>T, NM_001400293.1:c.40C>T, NM_001400297.1:c.40C>T, NM_001389595.1:c.40C>T, NM_001389594.1:c.40C>T, NM_001389602.1:c.40C>T, NM_001389596.1:c.40C>T, NM_001400290.1:c.40C>T, NM_001389604.1:c.40C>T, NM_001389598.1:c.40C>T, NM_001389603.1:c.40C>T, NM_001400294.1:c.40C>T, NM_001389601.1:c.40C>T, NM_001400295.1:c.40C>T, NM_001400296.1:c.40C>T, NM_001389599.1:c.40C>T, NM_001389600.1:c.40C>T, NM_001400298.1:c.40C>T, NM_001400299.1:c.40C>T, NM_001389605.1:c.40C>T, NM_001389597.1:c.40C>T, NM_001389606.1:c.40C>T, NM_001389608.1:c.40C>T, NM_001389607.1:c.40C>T, XM_005264823.4:c.40C>T, XM_005264823.3:c.40C>T, XM_005264823.2:c.40C>T, XM_005264823.1:c.40C>T, XM_006712946.4:c.40C>T, XM_006712946.3:c.40C>T, XM_006712946.2:c.40C>T, XM_006712946.1:c.40C>T, XM_005264824.3:c.40C>T, XM_005264824.2:c.40C>T, XM_005264824.1:c.40C>T, XM_005264827.3:c.40C>T, XM_005264827.2:c.40C>T, XM_005264827.1:c.40C>T, XM_006712947.3:c.40C>T, XM_006712947.2:c.40C>T, XM_006712947.1:c.40C>T, XM_017005627.2:c.40C>T, XM_017005627.1:c.40C>T, XM_047447341.1:c.40C>T, XM_047447346.1:c.40C>T, XM_047447342.1:c.40C>T, XM_047447343.1:c.40C>T, XM_047447344.1:c.40C>T, XM_047447345.1:c.40C>T, XM_047447347.1:c.40C>T, XM_047447349.1:c.40C>T, XM_047447348.1:c.40C>T, XM_047447350.1:c.40C>T, XM_047447351.1:c.40C>T, XM_047447352.1:c.40C>T, XM_047447353.1:c.40C>T, NP_006668.1:p.Pro14Ser, NP_001338029.1:p.Pro14Ser, NP_001186089.1:p.Pro14Ser, NP_001338030.1:p.Pro14Ser, NP_001186090.1:p.Pro14Ser, NP_001338028.1:p.Pro14Ser, NP_001186091.1:p.Pro14Ser, NP_001338027.1:p.Pro14Ser, NP_001338036.1:p.Pro14Ser, NP_001338034.1:p.Pro14Ser, NP_001338033.1:p.Pro14Ser, NP_001338035.1:p.Pro14Ser, NP_001338032.1:p.Pro14Ser, NP_001338037.1:p.Pro14Ser, NP_001338031.1:p.Pro14Ser, NP_001387217.1:p.Pro14Ser, NP_001387221.1:p.Pro14Ser, NP_001387222.1:p.Pro14Ser, NP_001387226.1:p.Pro14Ser, NP_001376524.1:p.Pro14Ser, NP_001376523.1:p.Pro14Ser, NP_001376531.1:p.Pro14Ser, NP_001376525.1:p.Pro14Ser, NP_001387219.1:p.Pro14Ser, NP_001376533.1:p.Pro14Ser, NP_001376527.1:p.Pro14Ser, NP_001376532.1:p.Pro14Ser, NP_001387223.1:p.Pro14Ser, NP_001376530.1:p.Pro14Ser, NP_001387224.1:p.Pro14Ser, NP_001387225.1:p.Pro14Ser, NP_001376528.1:p.Pro14Ser, NP_001376529.1:p.Pro14Ser, NP_001387227.1:p.Pro14Ser, NP_001387228.1:p.Pro14Ser, NP_001376534.1:p.Pro14Ser, NP_001376526.1:p.Pro14Ser, NP_001376535.1:p.Pro14Ser, NP_001376537.1:p.Pro14Ser, NP_001376536.1:p.Pro14Ser, XP_005264880.1:p.Pro14Ser, XP_006713009.1:p.Pro14Ser, XP_005264881.1:p.Pro14Ser, XP_005264884.1:p.Pro14Ser, XP_006713010.1:p.Pro14Ser, XP_016861116.1:p.Pro14Ser, XP_047303297.1:p.Pro14Ser, XP_047303302.1:p.Pro14Ser, XP_047303298.1:p.Pro14Ser, XP_047303299.1:p.Pro14Ser, XP_047303300.1:p.Pro14Ser, XP_047303301.1:p.Pro14Ser, XP_047303303.1:p.Pro14Ser, XP_047303305.1:p.Pro14Ser, XP_047303304.1:p.Pro14Ser, XP_047303306.1:p.Pro14Ser, XP_047303307.1:p.Pro14Ser, XP_047303308.1:p.Pro14Ser, XP_047303309.1:p.Pro14Ser

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...