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Items: 1 to 20 of 1743

1.

rs1490993095 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    1:46030191 (GRCh38)
    1:46495863 (GRCh37)
    Canonical SPDI:
    NC_000001.11:46030190:T:G
    Gene:
    MAST2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000001.11:g.46030191T>G, NC_000001.10:g.46495863T>G, XM_005270656.6:c.2245T>G, XM_005270656.5:c.2245T>G, XM_005270656.4:c.2245T>G, XM_005270656.3:c.2245T>G, XM_005270656.2:c.2245T>G, XM_005270656.1:c.2245T>G, XM_005270655.4:c.2272T>G, XM_005270655.3:c.2272T>G, XM_005270655.2:c.2272T>G, XM_005270655.1:c.2272T>G, XM_006710477.4:c.2077T>G, XM_006710477.3:c.2077T>G, XM_006710477.2:c.2077T>G, XM_006710477.1:c.2077T>G, XM_011541059.3:c.2722T>G, XM_011541059.2:c.2722T>G, XM_011541059.1:c.2722T>G, XM_011541061.3:c.2722T>G, XM_011541061.2:c.2722T>G, XM_011541061.1:c.2722T>G, XM_011541062.3:c.2701T>G, XM_011541062.2:c.2701T>G, XM_011541062.1:c.2701T>G, NM_015112.3:c.2506T>G, NM_015112.2:c.2506T>G, XM_011541069.3:c.2722T>G, XM_011541069.2:c.2722T>G, XM_011541069.1:c.2722T>G, XM_011541064.3:c.2563T>G, XM_011541064.2:c.2563T>G, XM_011541064.1:c.2563T>G, XM_011541067.3:c.2041T>G, XM_011541067.2:c.2041T>G, XM_011541067.1:c.2041T>G, XM_017000752.2:c.2293T>G, XM_017000752.1:c.2293T>G, NM_001324321.2:c.2044T>G, NM_001324321.1:c.2044T>G, XM_017000755.2:c.2098T>G, XM_017000755.1:c.2098T>G, NM_001324320.2:c.2527T>G, NM_001324320.1:c.2527T>G, NM_001319245.2:c.2506T>G, NM_001319245.1:c.2506T>G, XM_011541063.2:c.2572T>G, XM_011541063.1:c.2572T>G, XM_011541068.2:c.2020T>G, XM_011541068.1:c.2020T>G, XM_017000753.2:c.2182T>G, XM_017000753.1:c.2182T>G, XM_047450096.1:c.2701T>G, XM_047450111.1:c.2527T>G, XM_047450141.1:c.2722T>G, XM_047450142.1:c.2701T>G, XM_047450105.1:c.2542T>G, XM_047450145.1:c.2527T>G, XM_047450149.1:c.2527T>G, XM_047450150.1:c.2506T>G, XM_047450153.1:c.2506T>G, XM_047450130.1:c.2224T>G, XM_047450121.1:c.2368T>G, XM_047450123.1:c.2347T>G, XM_047450129.1:c.2347T>G, XM_047450116.1:c.2377T>G, XM_047450122.1:c.2356T>G, XM_047450138.1:c.1630T>G, XP_005270713.1:p.Cys749Gly, XP_005270712.1:p.Cys758Gly, XP_006710540.1:p.Cys693Gly, XP_011539361.1:p.Cys908Gly, XP_011539363.1:p.Cys908Gly, XP_011539364.1:p.Cys901Gly, NP_055927.2:p.Cys836Gly, XP_011539371.1:p.Cys908Gly, XP_011539366.1:p.Cys855Gly, XP_011539369.1:p.Cys681Gly, XP_016856241.1:p.Cys765Gly, NP_001311250.1:p.Cys682Gly, XP_016856244.1:p.Cys700Gly, NP_001311249.1:p.Cys843Gly, NP_001306174.1:p.Cys836Gly, XP_011539365.1:p.Cys858Gly, XP_011539370.1:p.Cys674Gly, XP_016856242.1:p.Cys728Gly, XP_047306052.1:p.Cys901Gly, XP_047306067.1:p.Cys843Gly, XP_047306097.1:p.Cys908Gly, XP_047306098.1:p.Cys901Gly, XP_047306061.1:p.Cys848Gly, XP_047306101.1:p.Cys843Gly, XP_047306105.1:p.Cys843Gly, XP_047306106.1:p.Cys836Gly, XP_047306109.1:p.Cys836Gly, XP_047306086.1:p.Cys742Gly, XP_047306077.1:p.Cys790Gly, XP_047306079.1:p.Cys783Gly, XP_047306085.1:p.Cys783Gly, XP_047306072.1:p.Cys793Gly, XP_047306078.1:p.Cys786Gly, XP_047306094.1:p.Cys544Gly

    2.

    rs1490604293 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      1:46029517 (GRCh38)
      1:46495190 (GRCh37)
      Canonical SPDI:
      NC_000001.11:46029517:CC:CCC
      Gene:
      MAST2 (Varview)
      Functional Consequence:
      frameshift_variant,coding_sequence_variant
      Validated:
      by cluster
      HGVS:
      NC_000001.11:g.46029519dup, NC_000001.10:g.46495191dup, XM_005270656.6:c.2011dup, XM_005270656.5:c.2011dup, XM_005270656.4:c.2011dup, XM_005270656.3:c.2011dup, XM_005270656.2:c.2011dup, XM_005270656.1:c.2011dup, XM_005270655.4:c.2038dup, XM_005270655.3:c.2038dup, XM_005270655.2:c.2038dup, XM_005270655.1:c.2038dup, XM_006710477.4:c.1843dup, XM_006710477.3:c.1843dup, XM_006710477.2:c.1843dup, XM_006710477.1:c.1843dup, XM_011541059.3:c.2488dup, XM_011541059.2:c.2488dup, XM_011541059.1:c.2488dup, XM_011541061.3:c.2488dup, XM_011541061.2:c.2488dup, XM_011541061.1:c.2488dup, XM_011541062.3:c.2467dup, XM_011541062.2:c.2467dup, XM_011541062.1:c.2467dup, NM_015112.3:c.2272dup, NM_015112.2:c.2272dup, XM_011541069.3:c.2488dup, XM_011541069.2:c.2488dup, XM_011541069.1:c.2488dup, XM_011541064.3:c.2329dup, XM_011541064.2:c.2329dup, XM_011541064.1:c.2329dup, XM_011541067.3:c.1807dup, XM_011541067.2:c.1807dup, XM_011541067.1:c.1807dup, XM_017000752.2:c.2059dup, XM_017000752.1:c.2059dup, NM_001324321.2:c.1810dup, NM_001324321.1:c.1810dup, XM_017000755.2:c.1864dup, XM_017000755.1:c.1864dup, NM_001324320.2:c.2293dup, NM_001324320.1:c.2293dup, NM_001319245.2:c.2272dup, NM_001319245.1:c.2272dup, XM_011541063.2:c.2338dup, XM_011541063.1:c.2338dup, XM_011541068.2:c.1786dup, XM_011541068.1:c.1786dup, XM_017000753.2:c.1948dup, XM_017000753.1:c.1948dup, XM_047450096.1:c.2467dup, XM_047450111.1:c.2293dup, XM_047450141.1:c.2488dup, XM_047450142.1:c.2467dup, XM_047450105.1:c.2308dup, XM_047450145.1:c.2293dup, XM_047450149.1:c.2293dup, XM_047450150.1:c.2272dup, XM_047450153.1:c.2272dup, XM_047450130.1:c.1990dup, XM_047450121.1:c.2134dup, XM_047450123.1:c.2113dup, XM_047450129.1:c.2113dup, XM_047450116.1:c.2143dup, XM_047450122.1:c.2122dup, XM_047450138.1:c.1396dup, XP_005270713.1:p.Leu671fs, XP_005270712.1:p.Leu680fs, XP_006710540.1:p.Leu615fs, XP_011539361.1:p.Leu830fs, XP_011539363.1:p.Leu830fs, XP_011539364.1:p.Leu823fs, NP_055927.2:p.Leu758fs, XP_011539371.1:p.Leu830fs, XP_011539366.1:p.Leu777fs, XP_011539369.1:p.Leu603fs, XP_016856241.1:p.Leu687fs, NP_001311250.1:p.Leu604fs, XP_016856244.1:p.Leu622fs, NP_001311249.1:p.Leu765fs, NP_001306174.1:p.Leu758fs, XP_011539365.1:p.Leu780fs, XP_011539370.1:p.Leu596fs, XP_016856242.1:p.Leu650fs, XP_047306052.1:p.Leu823fs, XP_047306067.1:p.Leu765fs, XP_047306097.1:p.Leu830fs, XP_047306098.1:p.Leu823fs, XP_047306061.1:p.Leu770fs, XP_047306101.1:p.Leu765fs, XP_047306105.1:p.Leu765fs, XP_047306106.1:p.Leu758fs, XP_047306109.1:p.Leu758fs, XP_047306086.1:p.Leu664fs, XP_047306077.1:p.Leu712fs, XP_047306079.1:p.Leu705fs, XP_047306085.1:p.Leu705fs, XP_047306072.1:p.Leu715fs, XP_047306078.1:p.Leu708fs, XP_047306094.1:p.Leu466fs

      3.

      rs1490483679 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        1:46035138 (GRCh38)
        1:46500810 (GRCh37)
        Canonical SPDI:
        NC_000001.11:46035137:A:G
        Gene:
        MAST2 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.46035138A>G, NC_000001.10:g.46500810A>G, XM_005270656.6:c.4208A>G, XM_005270656.5:c.4208A>G, XM_005270656.4:c.4208A>G, XM_005270656.3:c.4208A>G, XM_005270656.2:c.4208A>G, XM_005270656.1:c.4208A>G, XM_005270655.4:c.4235A>G, XM_005270655.3:c.4235A>G, XM_005270655.2:c.4235A>G, XM_005270655.1:c.4235A>G, XM_006710477.4:c.4040A>G, XM_006710477.3:c.4040A>G, XM_006710477.2:c.4040A>G, XM_006710477.1:c.4040A>G, XM_011541059.3:c.4685A>G, XM_011541059.2:c.4685A>G, XM_011541059.1:c.4685A>G, XM_011541061.3:c.4682A>G, XM_011541061.2:c.4682A>G, XM_011541061.1:c.4682A>G, XM_011541062.3:c.4664A>G, XM_011541062.2:c.4664A>G, XM_011541062.1:c.4664A>G, NM_015112.3:c.4469A>G, NM_015112.2:c.4469A>G, XM_011541069.3:c.*202A>G, XM_011541069.2:c.*202A>G, XM_011541069.1:c.*202A>G, XM_011541064.3:c.4526A>G, XM_011541064.2:c.4526A>G, XM_011541064.1:c.4526A>G, XM_011541067.3:c.4004A>G, XM_011541067.2:c.4004A>G, XM_011541067.1:c.4004A>G, XM_017000752.2:c.4256A>G, XM_017000752.1:c.4256A>G, NM_001324321.2:c.4007A>G, NM_001324321.1:c.4007A>G, XM_017000755.2:c.4061A>G, XM_017000755.1:c.4061A>G, NM_001324320.2:c.4490A>G, NM_001324320.1:c.4490A>G, NM_001319245.2:c.4466A>G, NM_001319245.1:c.4466A>G, XM_011541063.2:c.4535A>G, XM_011541063.1:c.4535A>G, XM_011541068.2:c.3983A>G, XM_011541068.1:c.3983A>G, XM_017000753.2:c.4145A>G, XM_017000753.1:c.4145A>G, XM_047450096.1:c.4661A>G, XM_047450111.1:c.4487A>G, XM_047450141.1:c.*202A>G, XM_047450142.1:c.*202A>G, XM_047450105.1:c.4505A>G, XM_047450145.1:c.*202A>G, XM_047450149.1:c.*202A>G, XM_047450150.1:c.*202A>G, XM_047450153.1:c.*202A>G, XM_047450130.1:c.4187A>G, XM_047450121.1:c.4331A>G, XM_047450123.1:c.4310A>G, XM_047450129.1:c.4307A>G, XM_047450116.1:c.4340A>G, XM_047450122.1:c.4316A>G, XM_047450138.1:c.3593A>G, XP_005270713.1:p.Glu1403Gly, XP_005270712.1:p.Glu1412Gly, XP_006710540.1:p.Glu1347Gly, XP_011539361.1:p.Glu1562Gly, XP_011539363.1:p.Glu1561Gly, XP_011539364.1:p.Glu1555Gly, NP_055927.2:p.Glu1490Gly, XP_011539366.1:p.Glu1509Gly, XP_011539369.1:p.Glu1335Gly, XP_016856241.1:p.Glu1419Gly, NP_001311250.1:p.Glu1336Gly, XP_016856244.1:p.Glu1354Gly, NP_001311249.1:p.Glu1497Gly, NP_001306174.1:p.Glu1489Gly, XP_011539365.1:p.Glu1512Gly, XP_011539370.1:p.Glu1328Gly, XP_016856242.1:p.Glu1382Gly, XP_047306052.1:p.Glu1554Gly, XP_047306067.1:p.Glu1496Gly, XP_047306061.1:p.Glu1502Gly, XP_047306086.1:p.Glu1396Gly, XP_047306077.1:p.Glu1444Gly, XP_047306079.1:p.Glu1437Gly, XP_047306085.1:p.Glu1436Gly, XP_047306072.1:p.Glu1447Gly, XP_047306078.1:p.Glu1439Gly, XP_047306094.1:p.Glu1198Gly

        4.

        rs1490320007 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          1:46034838 (GRCh38)
          1:46500510 (GRCh37)
          Canonical SPDI:
          NC_000001.11:46034837:G:A,NC_000001.11:46034837:G:C
          Gene:
          MAST2 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_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_000001.11:g.46034838G>A, NC_000001.11:g.46034838G>C, NC_000001.10:g.46500510G>A, NC_000001.10:g.46500510G>C, XM_005270656.6:c.3908G>A, XM_005270656.6:c.3908G>C, XM_005270656.5:c.3908G>A, XM_005270656.5:c.3908G>C, XM_005270656.4:c.3908G>A, XM_005270656.4:c.3908G>C, XM_005270656.3:c.3908G>A, XM_005270656.3:c.3908G>C, XM_005270656.2:c.3908G>A, XM_005270656.2:c.3908G>C, XM_005270656.1:c.3908G>A, XM_005270656.1:c.3908G>C, XM_005270655.4:c.3935G>A, XM_005270655.4:c.3935G>C, XM_005270655.3:c.3935G>A, XM_005270655.3:c.3935G>C, XM_005270655.2:c.3935G>A, XM_005270655.2:c.3935G>C, XM_005270655.1:c.3935G>A, XM_005270655.1:c.3935G>C, XM_006710477.4:c.3740G>A, XM_006710477.4:c.3740G>C, XM_006710477.3:c.3740G>A, XM_006710477.3:c.3740G>C, XM_006710477.2:c.3740G>A, XM_006710477.2:c.3740G>C, XM_006710477.1:c.3740G>A, XM_006710477.1:c.3740G>C, XM_011541059.3:c.4385G>A, XM_011541059.3:c.4385G>C, XM_011541059.2:c.4385G>A, XM_011541059.2:c.4385G>C, XM_011541059.1:c.4385G>A, XM_011541059.1:c.4385G>C, XM_011541061.3:c.4382G>A, XM_011541061.3:c.4382G>C, XM_011541061.2:c.4382G>A, XM_011541061.2:c.4382G>C, XM_011541061.1:c.4382G>A, XM_011541061.1:c.4382G>C, XM_011541062.3:c.4364G>A, XM_011541062.3:c.4364G>C, XM_011541062.2:c.4364G>A, XM_011541062.2:c.4364G>C, XM_011541062.1:c.4364G>A, XM_011541062.1:c.4364G>C, NM_015112.3:c.4169G>A, NM_015112.3:c.4169G>C, NM_015112.2:c.4169G>A, NM_015112.2:c.4169G>C, XM_011541069.3:c.4096G>A, XM_011541069.3:c.4096G>C, XM_011541069.2:c.4096G>A, XM_011541069.2:c.4096G>C, XM_011541069.1:c.4096G>A, XM_011541069.1:c.4096G>C, XM_011541064.3:c.4226G>A, XM_011541064.3:c.4226G>C, XM_011541064.2:c.4226G>A, XM_011541064.2:c.4226G>C, XM_011541064.1:c.4226G>A, XM_011541064.1:c.4226G>C, XM_011541067.3:c.3704G>A, XM_011541067.3:c.3704G>C, XM_011541067.2:c.3704G>A, XM_011541067.2:c.3704G>C, XM_011541067.1:c.3704G>A, XM_011541067.1:c.3704G>C, XM_017000752.2:c.3956G>A, XM_017000752.2:c.3956G>C, XM_017000752.1:c.3956G>A, XM_017000752.1:c.3956G>C, NM_001324321.2:c.3707G>A, NM_001324321.2:c.3707G>C, NM_001324321.1:c.3707G>A, NM_001324321.1:c.3707G>C, XM_017000755.2:c.3761G>A, XM_017000755.2:c.3761G>C, XM_017000755.1:c.3761G>A, XM_017000755.1:c.3761G>C, NM_001324320.2:c.4190G>A, NM_001324320.2:c.4190G>C, NM_001324320.1:c.4190G>A, NM_001324320.1:c.4190G>C, NM_001319245.2:c.4166G>A, NM_001319245.2:c.4166G>C, NM_001319245.1:c.4166G>A, NM_001319245.1:c.4166G>C, XM_011541063.2:c.4235G>A, XM_011541063.2:c.4235G>C, XM_011541063.1:c.4235G>A, XM_011541063.1:c.4235G>C, XM_011541068.2:c.3683G>A, XM_011541068.2:c.3683G>C, XM_011541068.1:c.3683G>A, XM_011541068.1:c.3683G>C, XM_017000753.2:c.3845G>A, XM_017000753.2:c.3845G>C, XM_017000753.1:c.3845G>A, XM_017000753.1:c.3845G>C, XM_047450096.1:c.4361G>A, XM_047450096.1:c.4361G>C, XM_047450111.1:c.4187G>A, XM_047450111.1:c.4187G>C, XM_047450141.1:c.4093G>A, XM_047450141.1:c.4093G>C, XM_047450142.1:c.4075G>A, XM_047450142.1:c.4075G>C, XM_047450105.1:c.4205G>A, XM_047450105.1:c.4205G>C, XM_047450145.1:c.3901G>A, XM_047450145.1:c.3901G>C, XM_047450149.1:c.3898G>A, XM_047450149.1:c.3898G>C, XM_047450150.1:c.3880G>A, XM_047450150.1:c.3880G>C, XM_047450153.1:c.3877G>A, XM_047450153.1:c.3877G>C, XM_047450130.1:c.3887G>A, XM_047450130.1:c.3887G>C, XM_047450121.1:c.4031G>A, XM_047450121.1:c.4031G>C, XM_047450123.1:c.4010G>A, XM_047450123.1:c.4010G>C, XM_047450129.1:c.4007G>A, XM_047450129.1:c.4007G>C, XM_047450116.1:c.4040G>A, XM_047450116.1:c.4040G>C, XM_047450122.1:c.4016G>A, XM_047450122.1:c.4016G>C, XM_047450138.1:c.3293G>A, XM_047450138.1:c.3293G>C, XP_005270713.1:p.Arg1303Gln, XP_005270713.1:p.Arg1303Pro, XP_005270712.1:p.Arg1312Gln, XP_005270712.1:p.Arg1312Pro, XP_006710540.1:p.Arg1247Gln, XP_006710540.1:p.Arg1247Pro, XP_011539361.1:p.Arg1462Gln, XP_011539361.1:p.Arg1462Pro, XP_011539363.1:p.Arg1461Gln, XP_011539363.1:p.Arg1461Pro, XP_011539364.1:p.Arg1455Gln, XP_011539364.1:p.Arg1455Pro, NP_055927.2:p.Arg1390Gln, NP_055927.2:p.Arg1390Pro, XP_011539371.1:p.Gly1366Ser, XP_011539371.1:p.Gly1366Arg, XP_011539366.1:p.Arg1409Gln, XP_011539366.1:p.Arg1409Pro, XP_011539369.1:p.Arg1235Gln, XP_011539369.1:p.Arg1235Pro, XP_016856241.1:p.Arg1319Gln, XP_016856241.1:p.Arg1319Pro, NP_001311250.1:p.Arg1236Gln, NP_001311250.1:p.Arg1236Pro, XP_016856244.1:p.Arg1254Gln, XP_016856244.1:p.Arg1254Pro, NP_001311249.1:p.Arg1397Gln, NP_001311249.1:p.Arg1397Pro, NP_001306174.1:p.Arg1389Gln, NP_001306174.1:p.Arg1389Pro, XP_011539365.1:p.Arg1412Gln, XP_011539365.1:p.Arg1412Pro, XP_011539370.1:p.Arg1228Gln, XP_011539370.1:p.Arg1228Pro, XP_016856242.1:p.Arg1282Gln, XP_016856242.1:p.Arg1282Pro, XP_047306052.1:p.Arg1454Gln, XP_047306052.1:p.Arg1454Pro, XP_047306067.1:p.Arg1396Gln, XP_047306067.1:p.Arg1396Pro, XP_047306097.1:p.Gly1365Ser, XP_047306097.1:p.Gly1365Arg, XP_047306098.1:p.Gly1359Ser, XP_047306098.1:p.Gly1359Arg, XP_047306061.1:p.Arg1402Gln, XP_047306061.1:p.Arg1402Pro, XP_047306101.1:p.Gly1301Ser, XP_047306101.1:p.Gly1301Arg, XP_047306105.1:p.Gly1300Ser, XP_047306105.1:p.Gly1300Arg, XP_047306106.1:p.Gly1294Ser, XP_047306106.1:p.Gly1294Arg, XP_047306109.1:p.Gly1293Ser, XP_047306109.1:p.Gly1293Arg, XP_047306086.1:p.Arg1296Gln, XP_047306086.1:p.Arg1296Pro, XP_047306077.1:p.Arg1344Gln, XP_047306077.1:p.Arg1344Pro, XP_047306079.1:p.Arg1337Gln, XP_047306079.1:p.Arg1337Pro, XP_047306085.1:p.Arg1336Gln, XP_047306085.1:p.Arg1336Pro, XP_047306072.1:p.Arg1347Gln, XP_047306072.1:p.Arg1347Pro, XP_047306078.1:p.Arg1339Gln, XP_047306078.1:p.Arg1339Pro, XP_047306094.1:p.Arg1098Gln, XP_047306094.1:p.Arg1098Pro

          5.

          rs1490021304 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:45917453 (GRCh38)
            1:46383125 (GRCh37)
            Canonical SPDI:
            NC_000001.11:45917452:T:C
            Gene:
            MAST2 (Varview)
            Functional Consequence:
            intron_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.45917453T>C, NC_000001.10:g.46383125T>C, XM_005270656.6:c.138T>C, XM_005270656.5:c.138T>C, XM_005270656.4:c.138T>C, XM_005270656.3:c.138T>C, XM_005270656.2:c.138T>C, XM_005270656.1:c.138T>C, XM_005270655.4:c.165T>C, XM_005270655.3:c.165T>C, XM_005270655.2:c.165T>C, XM_005270655.1:c.165T>C, XM_011541059.3:c.615T>C, XM_011541059.2:c.615T>C, XM_011541059.1:c.615T>C, XM_011541061.3:c.615T>C, XM_011541061.2:c.615T>C, XM_011541061.1:c.615T>C, XM_011541062.3:c.615T>C, XM_011541062.2:c.615T>C, XM_011541062.1:c.615T>C, XM_011541069.3:c.615T>C, XM_011541069.2:c.615T>C, XM_011541069.1:c.615T>C, XM_011541064.3:c.456T>C, XM_011541064.2:c.456T>C, XM_011541064.1:c.456T>C, XM_017000752.2:c.186T>C, XM_017000752.1:c.186T>C, XM_011541063.2:c.465T>C, XM_011541063.1:c.465T>C, XM_017000753.2:c.75T>C, XM_017000753.1:c.75T>C, XM_047450096.1:c.615T>C, XM_047450141.1:c.615T>C, XM_047450142.1:c.615T>C, XM_047450105.1:c.456T>C, XM_047450130.1:c.138T>C

            6.

            rs1489965322 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TCATCACC>- [Show Flanks]
              Chromosome:
              1:46032648 (GRCh38)
              1:46498320 (GRCh37)
              Canonical SPDI:
              NC_000001.11:46032644:ACCTCATCACC:ACC
              Gene:
              MAST2 (Varview)
              Functional Consequence:
              frameshift_variant,coding_sequence_variant
              HGVS:
              NC_000001.11:g.46032648_46032655del, NC_000001.10:g.46498320_46498327del, XM_005270656.6:c.3206_3213del, XM_005270656.5:c.3206_3213del, XM_005270656.4:c.3206_3213del, XM_005270656.3:c.3206_3213del, XM_005270656.2:c.3206_3213del, XM_005270656.1:c.3206_3213del, XM_005270655.4:c.3233_3240del, XM_005270655.3:c.3233_3240del, XM_005270655.2:c.3233_3240del, XM_005270655.1:c.3233_3240del, XM_006710477.4:c.3038_3045del, XM_006710477.3:c.3038_3045del, XM_006710477.2:c.3038_3045del, XM_006710477.1:c.3038_3045del, XM_011541059.3:c.3683_3690del, XM_011541059.2:c.3683_3690del, XM_011541059.1:c.3683_3690del, XM_011541061.3:c.3683_3690del, XM_011541061.2:c.3683_3690del, XM_011541061.1:c.3683_3690del, XM_011541062.3:c.3662_3669del, XM_011541062.2:c.3662_3669del, XM_011541062.1:c.3662_3669del, NM_015112.3:c.3467_3474del, NM_015112.2:c.3467_3474del, XM_011541069.3:c.3683_3690del, XM_011541069.2:c.3683_3690del, XM_011541069.1:c.3683_3690del, XM_011541064.3:c.3524_3531del, XM_011541064.2:c.3524_3531del, XM_011541064.1:c.3524_3531del, XM_011541067.3:c.3002_3009del, XM_011541067.2:c.3002_3009del, XM_011541067.1:c.3002_3009del, XM_017000752.2:c.3254_3261del, XM_017000752.1:c.3254_3261del, NM_001324321.2:c.3005_3012del, NM_001324321.1:c.3005_3012del, XM_017000755.2:c.3059_3066del, XM_017000755.1:c.3059_3066del, NM_001324320.2:c.3488_3495del, NM_001324320.1:c.3488_3495del, NM_001319245.2:c.3467_3474del, NM_001319245.1:c.3467_3474del, XM_011541063.2:c.3533_3540del, XM_011541063.1:c.3533_3540del, XM_011541068.2:c.2981_2988del, XM_011541068.1:c.2981_2988del, XM_017000753.2:c.3143_3150del, XM_017000753.1:c.3143_3150del, XM_047450096.1:c.3662_3669del, XM_047450111.1:c.3488_3495del, XM_047450141.1:c.3683_3690del, XM_047450142.1:c.3662_3669del, XM_047450105.1:c.3503_3510del, XM_047450145.1:c.3488_3495del, XM_047450149.1:c.3488_3495del, XM_047450150.1:c.3467_3474del, XM_047450153.1:c.3467_3474del, XM_047450130.1:c.3185_3192del, XM_047450121.1:c.3329_3336del, XM_047450123.1:c.3308_3315del, XM_047450129.1:c.3308_3315del, XM_047450116.1:c.3338_3345del, XM_047450122.1:c.3317_3324del, XM_047450138.1:c.2591_2598del, XP_005270713.1:p.Leu1069fs, XP_005270712.1:p.Leu1078fs, XP_006710540.1:p.Leu1013fs, XP_011539361.1:p.Leu1228fs, XP_011539363.1:p.Leu1228fs, XP_011539364.1:p.Leu1221fs, NP_055927.2:p.Leu1156fs, XP_011539371.1:p.Leu1228fs, XP_011539366.1:p.Leu1175fs, XP_011539369.1:p.Leu1001fs, XP_016856241.1:p.Leu1085fs, NP_001311250.1:p.Leu1002fs, XP_016856244.1:p.Leu1020fs, NP_001311249.1:p.Leu1163fs, NP_001306174.1:p.Leu1156fs, XP_011539365.1:p.Leu1178fs, XP_011539370.1:p.Leu994fs, XP_016856242.1:p.Leu1048fs, XP_047306052.1:p.Leu1221fs, XP_047306067.1:p.Leu1163fs, XP_047306097.1:p.Leu1228fs, XP_047306098.1:p.Leu1221fs, XP_047306061.1:p.Leu1168fs, XP_047306101.1:p.Leu1163fs, XP_047306105.1:p.Leu1163fs, XP_047306106.1:p.Leu1156fs, XP_047306109.1:p.Leu1156fs, XP_047306086.1:p.Leu1062fs, XP_047306077.1:p.Leu1110fs, XP_047306079.1:p.Leu1103fs, XP_047306085.1:p.Leu1103fs, XP_047306072.1:p.Leu1113fs, XP_047306078.1:p.Leu1106fs, XP_047306094.1:p.Leu864fs

              7.

              rs1489075477 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:46032689 (GRCh38)
                1:46498361 (GRCh37)
                Canonical SPDI:
                NC_000001.11:46032688:C:T
                Gene:
                MAST2 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                T=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.46032689C>T, NC_000001.10:g.46498361C>T, XM_005270656.6:c.3247C>T, XM_005270656.5:c.3247C>T, XM_005270656.4:c.3247C>T, XM_005270656.3:c.3247C>T, XM_005270656.2:c.3247C>T, XM_005270656.1:c.3247C>T, XM_005270655.4:c.3274C>T, XM_005270655.3:c.3274C>T, XM_005270655.2:c.3274C>T, XM_005270655.1:c.3274C>T, XM_006710477.4:c.3079C>T, XM_006710477.3:c.3079C>T, XM_006710477.2:c.3079C>T, XM_006710477.1:c.3079C>T, XM_011541059.3:c.3724C>T, XM_011541059.2:c.3724C>T, XM_011541059.1:c.3724C>T, XM_011541061.3:c.3724C>T, XM_011541061.2:c.3724C>T, XM_011541061.1:c.3724C>T, XM_011541062.3:c.3703C>T, XM_011541062.2:c.3703C>T, XM_011541062.1:c.3703C>T, NM_015112.3:c.3508C>T, NM_015112.2:c.3508C>T, XM_011541069.3:c.3724C>T, XM_011541069.2:c.3724C>T, XM_011541069.1:c.3724C>T, XM_011541064.3:c.3565C>T, XM_011541064.2:c.3565C>T, XM_011541064.1:c.3565C>T, XM_011541067.3:c.3043C>T, XM_011541067.2:c.3043C>T, XM_011541067.1:c.3043C>T, XM_017000752.2:c.3295C>T, XM_017000752.1:c.3295C>T, NM_001324321.2:c.3046C>T, NM_001324321.1:c.3046C>T, XM_017000755.2:c.3100C>T, XM_017000755.1:c.3100C>T, NM_001324320.2:c.3529C>T, NM_001324320.1:c.3529C>T, NM_001319245.2:c.3508C>T, NM_001319245.1:c.3508C>T, XM_011541063.2:c.3574C>T, XM_011541063.1:c.3574C>T, XM_011541068.2:c.3022C>T, XM_011541068.1:c.3022C>T, XM_017000753.2:c.3184C>T, XM_017000753.1:c.3184C>T, XM_047450096.1:c.3703C>T, XM_047450111.1:c.3529C>T, XM_047450141.1:c.3724C>T, XM_047450142.1:c.3703C>T, XM_047450105.1:c.3544C>T, XM_047450145.1:c.3529C>T, XM_047450149.1:c.3529C>T, XM_047450150.1:c.3508C>T, XM_047450153.1:c.3508C>T, XM_047450130.1:c.3226C>T, XM_047450121.1:c.3370C>T, XM_047450123.1:c.3349C>T, XM_047450129.1:c.3349C>T, XM_047450116.1:c.3379C>T, XM_047450122.1:c.3358C>T, XM_047450138.1:c.2632C>T, XP_005270713.1:p.His1083Tyr, XP_005270712.1:p.His1092Tyr, XP_006710540.1:p.His1027Tyr, XP_011539361.1:p.His1242Tyr, XP_011539363.1:p.His1242Tyr, XP_011539364.1:p.His1235Tyr, NP_055927.2:p.His1170Tyr, XP_011539371.1:p.His1242Tyr, XP_011539366.1:p.His1189Tyr, XP_011539369.1:p.His1015Tyr, XP_016856241.1:p.His1099Tyr, NP_001311250.1:p.His1016Tyr, XP_016856244.1:p.His1034Tyr, NP_001311249.1:p.His1177Tyr, NP_001306174.1:p.His1170Tyr, XP_011539365.1:p.His1192Tyr, XP_011539370.1:p.His1008Tyr, XP_016856242.1:p.His1062Tyr, XP_047306052.1:p.His1235Tyr, XP_047306067.1:p.His1177Tyr, XP_047306097.1:p.His1242Tyr, XP_047306098.1:p.His1235Tyr, XP_047306061.1:p.His1182Tyr, XP_047306101.1:p.His1177Tyr, XP_047306105.1:p.His1177Tyr, XP_047306106.1:p.His1170Tyr, XP_047306109.1:p.His1170Tyr, XP_047306086.1:p.His1076Tyr, XP_047306077.1:p.His1124Tyr, XP_047306079.1:p.His1117Tyr, XP_047306085.1:p.His1117Tyr, XP_047306072.1:p.His1127Tyr, XP_047306078.1:p.His1120Tyr, XP_047306094.1:p.His878Tyr

                8.

                rs1488778854 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:46035804 (GRCh38)
                  1:46501476 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:46035803:G:T
                  Gene:
                  MAST2 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.46035804G>T, NC_000001.10:g.46501476G>T, XM_005270656.6:c.4874G>T, XM_005270656.5:c.4874G>T, XM_005270656.4:c.4874G>T, XM_005270656.3:c.4874G>T, XM_005270656.2:c.4874G>T, XM_005270656.1:c.4874G>T, XM_005270655.4:c.4901G>T, XM_005270655.3:c.4901G>T, XM_005270655.2:c.4901G>T, XM_005270655.1:c.4901G>T, XM_006710477.4:c.4706G>T, XM_006710477.3:c.4706G>T, XM_006710477.2:c.4706G>T, XM_006710477.1:c.4706G>T, XM_011541059.3:c.5351G>T, XM_011541059.2:c.5351G>T, XM_011541059.1:c.5351G>T, XM_011541061.3:c.5348G>T, XM_011541061.2:c.5348G>T, XM_011541061.1:c.5348G>T, XM_011541062.3:c.5330G>T, XM_011541062.2:c.5330G>T, XM_011541062.1:c.5330G>T, NM_015112.3:c.5135G>T, NM_015112.2:c.5135G>T, XM_011541069.3:c.*868G>T, XM_011541069.2:c.*868G>T, XM_011541064.3:c.5192G>T, XM_011541064.2:c.5192G>T, XM_011541064.1:c.5192G>T, XM_011541067.3:c.4670G>T, XM_011541067.2:c.4670G>T, XM_011541067.1:c.4670G>T, XM_017000752.2:c.4922G>T, XM_017000752.1:c.4922G>T, NM_001324321.2:c.4673G>T, NM_001324321.1:c.4673G>T, XM_017000755.2:c.4727G>T, XM_017000755.1:c.4727G>T, NM_001324320.2:c.5156G>T, NM_001324320.1:c.5156G>T, NM_001319245.2:c.5132G>T, NM_001319245.1:c.5132G>T, XM_011541063.2:c.5201G>T, XM_011541063.1:c.5201G>T, XM_011541068.2:c.4649G>T, XM_011541068.1:c.4649G>T, XM_017000753.2:c.4811G>T, XM_017000753.1:c.4811G>T, XM_047450096.1:c.5327G>T, XM_047450111.1:c.5153G>T, XM_047450141.1:c.*868G>T, XM_047450142.1:c.*868G>T, XM_047450105.1:c.5171G>T, XM_047450145.1:c.*868G>T, XM_047450149.1:c.*868G>T, XM_047450150.1:c.*868G>T, XM_047450153.1:c.*868G>T, XM_047450130.1:c.4853G>T, XM_047450121.1:c.4997G>T, XM_047450123.1:c.4976G>T, XM_047450129.1:c.4973G>T, XM_047450116.1:c.5006G>T, XM_047450122.1:c.4982G>T, XM_047450138.1:c.4259G>T, XP_005270713.1:p.Arg1625Ile, XP_005270712.1:p.Arg1634Ile, XP_006710540.1:p.Arg1569Ile, XP_011539361.1:p.Arg1784Ile, XP_011539363.1:p.Arg1783Ile, XP_011539364.1:p.Arg1777Ile, NP_055927.2:p.Arg1712Ile, XP_011539366.1:p.Arg1731Ile, XP_011539369.1:p.Arg1557Ile, XP_016856241.1:p.Arg1641Ile, NP_001311250.1:p.Arg1558Ile, XP_016856244.1:p.Arg1576Ile, NP_001311249.1:p.Arg1719Ile, NP_001306174.1:p.Arg1711Ile, XP_011539365.1:p.Arg1734Ile, XP_011539370.1:p.Arg1550Ile, XP_016856242.1:p.Arg1604Ile, XP_047306052.1:p.Arg1776Ile, XP_047306067.1:p.Arg1718Ile, XP_047306061.1:p.Arg1724Ile, XP_047306086.1:p.Arg1618Ile, XP_047306077.1:p.Arg1666Ile, XP_047306079.1:p.Arg1659Ile, XP_047306085.1:p.Arg1658Ile, XP_047306072.1:p.Arg1669Ile, XP_047306078.1:p.Arg1661Ile, XP_047306094.1:p.Arg1420Ile

                  9.

                  rs1488576978 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    1:46032601 (GRCh38)
                    1:46498273 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:46032600:G:A
                    Gene:
                    MAST2 (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.46032601G>A, NC_000001.10:g.46498273G>A, XM_005270656.6:c.3159G>A, XM_005270656.5:c.3159G>A, XM_005270656.4:c.3159G>A, XM_005270656.3:c.3159G>A, XM_005270656.2:c.3159G>A, XM_005270656.1:c.3159G>A, XM_005270655.4:c.3186G>A, XM_005270655.3:c.3186G>A, XM_005270655.2:c.3186G>A, XM_005270655.1:c.3186G>A, XM_006710477.4:c.2991G>A, XM_006710477.3:c.2991G>A, XM_006710477.2:c.2991G>A, XM_006710477.1:c.2991G>A, XM_011541059.3:c.3636G>A, XM_011541059.2:c.3636G>A, XM_011541059.1:c.3636G>A, XM_011541061.3:c.3636G>A, XM_011541061.2:c.3636G>A, XM_011541061.1:c.3636G>A, XM_011541062.3:c.3615G>A, XM_011541062.2:c.3615G>A, XM_011541062.1:c.3615G>A, NM_015112.3:c.3420G>A, NM_015112.2:c.3420G>A, XM_011541069.3:c.3636G>A, XM_011541069.2:c.3636G>A, XM_011541069.1:c.3636G>A, XM_011541064.3:c.3477G>A, XM_011541064.2:c.3477G>A, XM_011541064.1:c.3477G>A, XM_011541067.3:c.2955G>A, XM_011541067.2:c.2955G>A, XM_011541067.1:c.2955G>A, XM_017000752.2:c.3207G>A, XM_017000752.1:c.3207G>A, NM_001324321.2:c.2958G>A, NM_001324321.1:c.2958G>A, XM_017000755.2:c.3012G>A, XM_017000755.1:c.3012G>A, NM_001324320.2:c.3441G>A, NM_001324320.1:c.3441G>A, NM_001319245.2:c.3420G>A, NM_001319245.1:c.3420G>A, XM_011541063.2:c.3486G>A, XM_011541063.1:c.3486G>A, XM_011541068.2:c.2934G>A, XM_011541068.1:c.2934G>A, XM_017000753.2:c.3096G>A, XM_017000753.1:c.3096G>A, XM_047450096.1:c.3615G>A, XM_047450111.1:c.3441G>A, XM_047450141.1:c.3636G>A, XM_047450142.1:c.3615G>A, XM_047450105.1:c.3456G>A, XM_047450145.1:c.3441G>A, XM_047450149.1:c.3441G>A, XM_047450150.1:c.3420G>A, XM_047450153.1:c.3420G>A, XM_047450130.1:c.3138G>A, XM_047450121.1:c.3282G>A, XM_047450123.1:c.3261G>A, XM_047450129.1:c.3261G>A, XM_047450116.1:c.3291G>A, XM_047450122.1:c.3270G>A, XM_047450138.1:c.2544G>A

                    10.

                    rs1488081636 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:46034116 (GRCh38)
                      1:46499788 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:46034115:T:C
                      Gene:
                      MAST2 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000001.11:g.46034116T>C, NC_000001.10:g.46499788T>C, XM_005270656.6:c.3457T>C, XM_005270656.5:c.3457T>C, XM_005270656.4:c.3457T>C, XM_005270656.3:c.3457T>C, XM_005270656.2:c.3457T>C, XM_005270656.1:c.3457T>C, XM_005270655.4:c.3484T>C, XM_005270655.3:c.3484T>C, XM_005270655.2:c.3484T>C, XM_005270655.1:c.3484T>C, XM_006710477.4:c.3289T>C, XM_006710477.3:c.3289T>C, XM_006710477.2:c.3289T>C, XM_006710477.1:c.3289T>C, XM_011541059.3:c.3934T>C, XM_011541059.2:c.3934T>C, XM_011541059.1:c.3934T>C, XM_011541061.3:c.3931T>C, XM_011541061.2:c.3931T>C, XM_011541061.1:c.3931T>C, XM_011541062.3:c.3913T>C, XM_011541062.2:c.3913T>C, XM_011541062.1:c.3913T>C, NM_015112.3:c.3718T>C, NM_015112.2:c.3718T>C, XM_011541069.3:c.3934T>C, XM_011541069.2:c.3934T>C, XM_011541069.1:c.3934T>C, XM_011541064.3:c.3775T>C, XM_011541064.2:c.3775T>C, XM_011541064.1:c.3775T>C, XM_011541067.3:c.3253T>C, XM_011541067.2:c.3253T>C, XM_011541067.1:c.3253T>C, XM_017000752.2:c.3505T>C, XM_017000752.1:c.3505T>C, NM_001324321.2:c.3256T>C, NM_001324321.1:c.3256T>C, XM_017000755.2:c.3310T>C, XM_017000755.1:c.3310T>C, NM_001324320.2:c.3739T>C, NM_001324320.1:c.3739T>C, NM_001319245.2:c.3715T>C, NM_001319245.1:c.3715T>C, XM_011541063.2:c.3784T>C, XM_011541063.1:c.3784T>C, XM_011541068.2:c.3232T>C, XM_011541068.1:c.3232T>C, XM_017000753.2:c.3394T>C, XM_017000753.1:c.3394T>C, XM_047450096.1:c.3910T>C, XM_047450111.1:c.3736T>C, XM_047450141.1:c.3931T>C, XM_047450142.1:c.3913T>C, XM_047450105.1:c.3754T>C, XM_047450145.1:c.3739T>C, XM_047450149.1:c.3736T>C, XM_047450150.1:c.3718T>C, XM_047450153.1:c.3715T>C, XM_047450130.1:c.3436T>C, XM_047450121.1:c.3580T>C, XM_047450123.1:c.3559T>C, XM_047450129.1:c.3556T>C, XM_047450116.1:c.3589T>C, XM_047450122.1:c.3565T>C, XM_047450138.1:c.2842T>C, XP_005270713.1:p.Ser1153Pro, XP_005270712.1:p.Ser1162Pro, XP_006710540.1:p.Ser1097Pro, XP_011539361.1:p.Ser1312Pro, XP_011539363.1:p.Ser1311Pro, XP_011539364.1:p.Ser1305Pro, NP_055927.2:p.Ser1240Pro, XP_011539371.1:p.Ser1312Pro, XP_011539366.1:p.Ser1259Pro, XP_011539369.1:p.Ser1085Pro, XP_016856241.1:p.Ser1169Pro, NP_001311250.1:p.Ser1086Pro, XP_016856244.1:p.Ser1104Pro, NP_001311249.1:p.Ser1247Pro, NP_001306174.1:p.Ser1239Pro, XP_011539365.1:p.Ser1262Pro, XP_011539370.1:p.Ser1078Pro, XP_016856242.1:p.Ser1132Pro, XP_047306052.1:p.Ser1304Pro, XP_047306067.1:p.Ser1246Pro, XP_047306097.1:p.Ser1311Pro, XP_047306098.1:p.Ser1305Pro, XP_047306061.1:p.Ser1252Pro, XP_047306101.1:p.Ser1247Pro, XP_047306105.1:p.Ser1246Pro, XP_047306106.1:p.Ser1240Pro, XP_047306109.1:p.Ser1239Pro, XP_047306086.1:p.Ser1146Pro, XP_047306077.1:p.Ser1194Pro, XP_047306079.1:p.Ser1187Pro, XP_047306085.1:p.Ser1186Pro, XP_047306072.1:p.Ser1197Pro, XP_047306078.1:p.Ser1189Pro, XP_047306094.1:p.Ser948Pro

                      11.

                      rs1484777233 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        1:46028901 (GRCh38)
                        1:46494573 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:46028900:C:A
                        Gene:
                        MAST2 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        A=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000001.11:g.46028901C>A, NC_000001.10:g.46494573C>A, XM_005270656.6:c.1925C>A, XM_005270656.5:c.1925C>A, XM_005270656.4:c.1925C>A, XM_005270656.3:c.1925C>A, XM_005270656.2:c.1925C>A, XM_005270656.1:c.1925C>A, XM_005270655.4:c.1952C>A, XM_005270655.3:c.1952C>A, XM_005270655.2:c.1952C>A, XM_005270655.1:c.1952C>A, XM_006710477.4:c.1757C>A, XM_006710477.3:c.1757C>A, XM_006710477.2:c.1757C>A, XM_006710477.1:c.1757C>A, XM_011541059.3:c.2402C>A, XM_011541059.2:c.2402C>A, XM_011541059.1:c.2402C>A, XM_011541061.3:c.2402C>A, XM_011541061.2:c.2402C>A, XM_011541061.1:c.2402C>A, XM_011541062.3:c.2381C>A, XM_011541062.2:c.2381C>A, XM_011541062.1:c.2381C>A, NM_015112.3:c.2186C>A, NM_015112.2:c.2186C>A, XM_011541069.3:c.2402C>A, XM_011541069.2:c.2402C>A, XM_011541069.1:c.2402C>A, XM_011541064.3:c.2243C>A, XM_011541064.2:c.2243C>A, XM_011541064.1:c.2243C>A, XM_011541067.3:c.1721C>A, XM_011541067.2:c.1721C>A, XM_011541067.1:c.1721C>A, XM_017000752.2:c.1973C>A, XM_017000752.1:c.1973C>A, NM_001324321.2:c.1724C>A, NM_001324321.1:c.1724C>A, XM_017000755.2:c.1778C>A, XM_017000755.1:c.1778C>A, NM_001324320.2:c.2207C>A, NM_001324320.1:c.2207C>A, NM_001319245.2:c.2186C>A, NM_001319245.1:c.2186C>A, XM_011541063.2:c.2252C>A, XM_011541063.1:c.2252C>A, XM_011541068.2:c.1700C>A, XM_011541068.1:c.1700C>A, XM_017000753.2:c.1862C>A, XM_017000753.1:c.1862C>A, XM_047450096.1:c.2381C>A, XM_047450111.1:c.2207C>A, XM_047450141.1:c.2402C>A, XM_047450142.1:c.2381C>A, XM_047450105.1:c.2222C>A, XM_047450145.1:c.2207C>A, XM_047450149.1:c.2207C>A, XM_047450150.1:c.2186C>A, XM_047450153.1:c.2186C>A, XM_047450130.1:c.1904C>A, XM_047450121.1:c.2048C>A, XM_047450123.1:c.2027C>A, XM_047450129.1:c.2027C>A, XM_047450116.1:c.2057C>A, XM_047450122.1:c.2036C>A, XM_047450138.1:c.1310C>A, XP_005270713.1:p.Thr642Asn, XP_005270712.1:p.Thr651Asn, XP_006710540.1:p.Thr586Asn, XP_011539361.1:p.Thr801Asn, XP_011539363.1:p.Thr801Asn, XP_011539364.1:p.Thr794Asn, NP_055927.2:p.Thr729Asn, XP_011539371.1:p.Thr801Asn, XP_011539366.1:p.Thr748Asn, XP_011539369.1:p.Thr574Asn, XP_016856241.1:p.Thr658Asn, NP_001311250.1:p.Thr575Asn, XP_016856244.1:p.Thr593Asn, NP_001311249.1:p.Thr736Asn, NP_001306174.1:p.Thr729Asn, XP_011539365.1:p.Thr751Asn, XP_011539370.1:p.Thr567Asn, XP_016856242.1:p.Thr621Asn, XP_047306052.1:p.Thr794Asn, XP_047306067.1:p.Thr736Asn, XP_047306097.1:p.Thr801Asn, XP_047306098.1:p.Thr794Asn, XP_047306061.1:p.Thr741Asn, XP_047306101.1:p.Thr736Asn, XP_047306105.1:p.Thr736Asn, XP_047306106.1:p.Thr729Asn, XP_047306109.1:p.Thr729Asn, XP_047306086.1:p.Thr635Asn, XP_047306077.1:p.Thr683Asn, XP_047306079.1:p.Thr676Asn, XP_047306085.1:p.Thr676Asn, XP_047306072.1:p.Thr686Asn, XP_047306078.1:p.Thr679Asn, XP_047306094.1:p.Thr437Asn

                        12.

                        rs1484715721 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          1:46023945 (GRCh38)
                          1:46489617 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:46023944:A:G
                          Gene:
                          MAST2 (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.46023945A>G, NC_000001.10:g.46489617A>G, XM_005270656.6:c.1484A>G, XM_005270656.5:c.1484A>G, XM_005270656.4:c.1484A>G, XM_005270656.3:c.1484A>G, XM_005270656.2:c.1484A>G, XM_005270656.1:c.1484A>G, XM_005270655.4:c.1511A>G, XM_005270655.3:c.1511A>G, XM_005270655.2:c.1511A>G, XM_005270655.1:c.1511A>G, XM_006710477.4:c.1316A>G, XM_006710477.3:c.1316A>G, XM_006710477.2:c.1316A>G, XM_006710477.1:c.1316A>G, XM_011541059.3:c.1961A>G, XM_011541059.2:c.1961A>G, XM_011541059.1:c.1961A>G, XM_011541061.3:c.1961A>G, XM_011541061.2:c.1961A>G, XM_011541061.1:c.1961A>G, XM_011541062.3:c.1940A>G, XM_011541062.2:c.1940A>G, XM_011541062.1:c.1940A>G, NM_015112.3:c.1745A>G, NM_015112.2:c.1745A>G, XM_011541069.3:c.1961A>G, XM_011541069.2:c.1961A>G, XM_011541069.1:c.1961A>G, XM_011541064.3:c.1802A>G, XM_011541064.2:c.1802A>G, XM_011541064.1:c.1802A>G, XM_011541067.3:c.1280A>G, XM_011541067.2:c.1280A>G, XM_011541067.1:c.1280A>G, XM_017000752.2:c.1532A>G, XM_017000752.1:c.1532A>G, NM_001324321.2:c.1283A>G, NM_001324321.1:c.1283A>G, XM_017000755.2:c.1337A>G, XM_017000755.1:c.1337A>G, NM_001324320.2:c.1766A>G, NM_001324320.1:c.1766A>G, NM_001319245.2:c.1745A>G, NM_001319245.1:c.1745A>G, XM_011541063.2:c.1811A>G, XM_011541063.1:c.1811A>G, XM_011541068.2:c.1259A>G, XM_011541068.1:c.1259A>G, XM_017000753.2:c.1421A>G, XM_017000753.1:c.1421A>G, XM_047450096.1:c.1940A>G, XM_047450111.1:c.1766A>G, XM_047450141.1:c.1961A>G, XM_047450142.1:c.1940A>G, XM_047450105.1:c.1781A>G, XM_047450145.1:c.1766A>G, XM_047450149.1:c.1766A>G, XM_047450150.1:c.1745A>G, XM_047450153.1:c.1745A>G, XM_047450130.1:c.1463A>G, XM_047450121.1:c.1607A>G, XM_047450123.1:c.1586A>G, XM_047450129.1:c.1586A>G, XM_047450116.1:c.1616A>G, XM_047450122.1:c.1595A>G, XM_047450138.1:c.869A>G, XP_005270713.1:p.Lys495Arg, XP_005270712.1:p.Lys504Arg, XP_006710540.1:p.Lys439Arg, XP_011539361.1:p.Lys654Arg, XP_011539363.1:p.Lys654Arg, XP_011539364.1:p.Lys647Arg, NP_055927.2:p.Lys582Arg, XP_011539371.1:p.Lys654Arg, XP_011539366.1:p.Lys601Arg, XP_011539369.1:p.Lys427Arg, XP_016856241.1:p.Lys511Arg, NP_001311250.1:p.Lys428Arg, XP_016856244.1:p.Lys446Arg, NP_001311249.1:p.Lys589Arg, NP_001306174.1:p.Lys582Arg, XP_011539365.1:p.Lys604Arg, XP_011539370.1:p.Lys420Arg, XP_016856242.1:p.Lys474Arg, XP_047306052.1:p.Lys647Arg, XP_047306067.1:p.Lys589Arg, XP_047306097.1:p.Lys654Arg, XP_047306098.1:p.Lys647Arg, XP_047306061.1:p.Lys594Arg, XP_047306101.1:p.Lys589Arg, XP_047306105.1:p.Lys589Arg, XP_047306106.1:p.Lys582Arg, XP_047306109.1:p.Lys582Arg, XP_047306086.1:p.Lys488Arg, XP_047306077.1:p.Lys536Arg, XP_047306079.1:p.Lys529Arg, XP_047306085.1:p.Lys529Arg, XP_047306072.1:p.Lys539Arg, XP_047306078.1:p.Lys532Arg, XP_047306094.1:p.Lys290Arg

                          13.

                          rs1484291007 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            1:46035175 (GRCh38)
                            1:46500847 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:46035174:C:T
                            Gene:
                            MAST2 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000007/1 (GnomAD)
                            T=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000001.11:g.46035175C>T, NC_000001.10:g.46500847C>T, XM_005270656.6:c.4245C>T, XM_005270656.5:c.4245C>T, XM_005270656.4:c.4245C>T, XM_005270656.3:c.4245C>T, XM_005270656.2:c.4245C>T, XM_005270656.1:c.4245C>T, XM_005270655.4:c.4272C>T, XM_005270655.3:c.4272C>T, XM_005270655.2:c.4272C>T, XM_005270655.1:c.4272C>T, XM_006710477.4:c.4077C>T, XM_006710477.3:c.4077C>T, XM_006710477.2:c.4077C>T, XM_006710477.1:c.4077C>T, XM_011541059.3:c.4722C>T, XM_011541059.2:c.4722C>T, XM_011541059.1:c.4722C>T, XM_011541061.3:c.4719C>T, XM_011541061.2:c.4719C>T, XM_011541061.1:c.4719C>T, XM_011541062.3:c.4701C>T, XM_011541062.2:c.4701C>T, XM_011541062.1:c.4701C>T, NM_015112.3:c.4506C>T, NM_015112.2:c.4506C>T, XM_011541069.3:c.*239C>T, XM_011541069.2:c.*239C>T, XM_011541069.1:c.*239C>T, XM_011541064.3:c.4563C>T, XM_011541064.2:c.4563C>T, XM_011541064.1:c.4563C>T, XM_011541067.3:c.4041C>T, XM_011541067.2:c.4041C>T, XM_011541067.1:c.4041C>T, XM_017000752.2:c.4293C>T, XM_017000752.1:c.4293C>T, NM_001324321.2:c.4044C>T, NM_001324321.1:c.4044C>T, XM_017000755.2:c.4098C>T, XM_017000755.1:c.4098C>T, NM_001324320.2:c.4527C>T, NM_001324320.1:c.4527C>T, NM_001319245.2:c.4503C>T, NM_001319245.1:c.4503C>T, XM_011541063.2:c.4572C>T, XM_011541063.1:c.4572C>T, XM_011541068.2:c.4020C>T, XM_011541068.1:c.4020C>T, XM_017000753.2:c.4182C>T, XM_017000753.1:c.4182C>T, XM_047450096.1:c.4698C>T, XM_047450111.1:c.4524C>T, XM_047450141.1:c.*239C>T, XM_047450142.1:c.*239C>T, XM_047450105.1:c.4542C>T, XM_047450145.1:c.*239C>T, XM_047450149.1:c.*239C>T, XM_047450150.1:c.*239C>T, XM_047450153.1:c.*239C>T, XM_047450130.1:c.4224C>T, XM_047450121.1:c.4368C>T, XM_047450123.1:c.4347C>T, XM_047450129.1:c.4344C>T, XM_047450116.1:c.4377C>T, XM_047450122.1:c.4353C>T, XM_047450138.1:c.3630C>T

                            14.

                            rs1483568186 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:46023833 (GRCh38)
                              1:46489505 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:46023832:A:G
                              Gene:
                              MAST2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.000047/1 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.46023833A>G, NC_000001.10:g.46489505A>G, XM_005270656.6:c.1372A>G, XM_005270656.5:c.1372A>G, XM_005270656.4:c.1372A>G, XM_005270656.3:c.1372A>G, XM_005270656.2:c.1372A>G, XM_005270656.1:c.1372A>G, XM_005270655.4:c.1399A>G, XM_005270655.3:c.1399A>G, XM_005270655.2:c.1399A>G, XM_005270655.1:c.1399A>G, XM_006710477.4:c.1204A>G, XM_006710477.3:c.1204A>G, XM_006710477.2:c.1204A>G, XM_006710477.1:c.1204A>G, XM_011541059.3:c.1849A>G, XM_011541059.2:c.1849A>G, XM_011541059.1:c.1849A>G, XM_011541061.3:c.1849A>G, XM_011541061.2:c.1849A>G, XM_011541061.1:c.1849A>G, XM_011541062.3:c.1828A>G, XM_011541062.2:c.1828A>G, XM_011541062.1:c.1828A>G, NM_015112.3:c.1633A>G, NM_015112.2:c.1633A>G, XM_011541069.3:c.1849A>G, XM_011541069.2:c.1849A>G, XM_011541069.1:c.1849A>G, XM_011541064.3:c.1690A>G, XM_011541064.2:c.1690A>G, XM_011541064.1:c.1690A>G, XM_011541067.3:c.1168A>G, XM_011541067.2:c.1168A>G, XM_011541067.1:c.1168A>G, XM_017000752.2:c.1420A>G, XM_017000752.1:c.1420A>G, NM_001324321.2:c.1171A>G, NM_001324321.1:c.1171A>G, XM_017000755.2:c.1225A>G, XM_017000755.1:c.1225A>G, NM_001324320.2:c.1654A>G, NM_001324320.1:c.1654A>G, NM_001319245.2:c.1633A>G, NM_001319245.1:c.1633A>G, XM_011541063.2:c.1699A>G, XM_011541063.1:c.1699A>G, XM_011541068.2:c.1147A>G, XM_011541068.1:c.1147A>G, XM_017000753.2:c.1309A>G, XM_017000753.1:c.1309A>G, XM_047450096.1:c.1828A>G, XM_047450111.1:c.1654A>G, XM_047450141.1:c.1849A>G, XM_047450142.1:c.1828A>G, XM_047450105.1:c.1669A>G, XM_047450145.1:c.1654A>G, XM_047450149.1:c.1654A>G, XM_047450150.1:c.1633A>G, XM_047450153.1:c.1633A>G, XM_047450130.1:c.1351A>G, XM_047450121.1:c.1495A>G, XM_047450123.1:c.1474A>G, XM_047450129.1:c.1474A>G, XM_047450116.1:c.1504A>G, XM_047450122.1:c.1483A>G, XM_047450138.1:c.757A>G, XP_005270713.1:p.Lys458Glu, XP_005270712.1:p.Lys467Glu, XP_006710540.1:p.Lys402Glu, XP_011539361.1:p.Lys617Glu, XP_011539363.1:p.Lys617Glu, XP_011539364.1:p.Lys610Glu, NP_055927.2:p.Lys545Glu, XP_011539371.1:p.Lys617Glu, XP_011539366.1:p.Lys564Glu, XP_011539369.1:p.Lys390Glu, XP_016856241.1:p.Lys474Glu, NP_001311250.1:p.Lys391Glu, XP_016856244.1:p.Lys409Glu, NP_001311249.1:p.Lys552Glu, NP_001306174.1:p.Lys545Glu, XP_011539365.1:p.Lys567Glu, XP_011539370.1:p.Lys383Glu, XP_016856242.1:p.Lys437Glu, XP_047306052.1:p.Lys610Glu, XP_047306067.1:p.Lys552Glu, XP_047306097.1:p.Lys617Glu, XP_047306098.1:p.Lys610Glu, XP_047306061.1:p.Lys557Glu, XP_047306101.1:p.Lys552Glu, XP_047306105.1:p.Lys552Glu, XP_047306106.1:p.Lys545Glu, XP_047306109.1:p.Lys545Glu, XP_047306086.1:p.Lys451Glu, XP_047306077.1:p.Lys499Glu, XP_047306079.1:p.Lys492Glu, XP_047306085.1:p.Lys492Glu, XP_047306072.1:p.Lys502Glu, XP_047306078.1:p.Lys495Glu, XP_047306094.1:p.Lys253Glu

                              15.

                              rs1482504711 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                1:46031254 (GRCh38)
                                1:46496926 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:46031253:G:A,NC_000001.11:46031253:G:T
                                Gene:
                                MAST2 (Varview)
                                Functional Consequence:
                                stop_gained,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000005/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.46031254G>A, NC_000001.11:g.46031254G>T, NC_000001.10:g.46496926G>A, NC_000001.10:g.46496926G>T, XM_005270656.6:c.2695G>A, XM_005270656.6:c.2695G>T, XM_005270656.5:c.2695G>A, XM_005270656.5:c.2695G>T, XM_005270656.4:c.2695G>A, XM_005270656.4:c.2695G>T, XM_005270656.3:c.2695G>A, XM_005270656.3:c.2695G>T, XM_005270656.2:c.2695G>A, XM_005270656.2:c.2695G>T, XM_005270656.1:c.2695G>A, XM_005270656.1:c.2695G>T, XM_005270655.4:c.2722G>A, XM_005270655.4:c.2722G>T, XM_005270655.3:c.2722G>A, XM_005270655.3:c.2722G>T, XM_005270655.2:c.2722G>A, XM_005270655.2:c.2722G>T, XM_005270655.1:c.2722G>A, XM_005270655.1:c.2722G>T, XM_006710477.4:c.2527G>A, XM_006710477.4:c.2527G>T, XM_006710477.3:c.2527G>A, XM_006710477.3:c.2527G>T, XM_006710477.2:c.2527G>A, XM_006710477.2:c.2527G>T, XM_006710477.1:c.2527G>A, XM_006710477.1:c.2527G>T, XM_011541059.3:c.3172G>A, XM_011541059.3:c.3172G>T, XM_011541059.2:c.3172G>A, XM_011541059.2:c.3172G>T, XM_011541059.1:c.3172G>A, XM_011541059.1:c.3172G>T, XM_011541061.3:c.3172G>A, XM_011541061.3:c.3172G>T, XM_011541061.2:c.3172G>A, XM_011541061.2:c.3172G>T, XM_011541061.1:c.3172G>A, XM_011541061.1:c.3172G>T, XM_011541062.3:c.3151G>A, XM_011541062.3:c.3151G>T, XM_011541062.2:c.3151G>A, XM_011541062.2:c.3151G>T, XM_011541062.1:c.3151G>A, XM_011541062.1:c.3151G>T, NM_015112.3:c.2956G>A, NM_015112.3:c.2956G>T, NM_015112.2:c.2956G>A, NM_015112.2:c.2956G>T, XM_011541069.3:c.3172G>A, XM_011541069.3:c.3172G>T, XM_011541069.2:c.3172G>A, XM_011541069.2:c.3172G>T, XM_011541069.1:c.3172G>A, XM_011541069.1:c.3172G>T, XM_011541064.3:c.3013G>A, XM_011541064.3:c.3013G>T, XM_011541064.2:c.3013G>A, XM_011541064.2:c.3013G>T, XM_011541064.1:c.3013G>A, XM_011541064.1:c.3013G>T, XM_011541067.3:c.2491G>A, XM_011541067.3:c.2491G>T, XM_011541067.2:c.2491G>A, XM_011541067.2:c.2491G>T, XM_011541067.1:c.2491G>A, XM_011541067.1:c.2491G>T, XM_017000752.2:c.2743G>A, XM_017000752.2:c.2743G>T, XM_017000752.1:c.2743G>A, XM_017000752.1:c.2743G>T, NM_001324321.2:c.2494G>A, NM_001324321.2:c.2494G>T, NM_001324321.1:c.2494G>A, NM_001324321.1:c.2494G>T, XM_017000755.2:c.2548G>A, XM_017000755.2:c.2548G>T, XM_017000755.1:c.2548G>A, XM_017000755.1:c.2548G>T, NM_001324320.2:c.2977G>A, NM_001324320.2:c.2977G>T, NM_001324320.1:c.2977G>A, NM_001324320.1:c.2977G>T, NM_001319245.2:c.2956G>A, NM_001319245.2:c.2956G>T, NM_001319245.1:c.2956G>A, NM_001319245.1:c.2956G>T, XM_011541063.2:c.3022G>A, XM_011541063.2:c.3022G>T, XM_011541063.1:c.3022G>A, XM_011541063.1:c.3022G>T, XM_011541068.2:c.2470G>A, XM_011541068.2:c.2470G>T, XM_011541068.1:c.2470G>A, XM_011541068.1:c.2470G>T, XM_017000753.2:c.2632G>A, XM_017000753.2:c.2632G>T, XM_017000753.1:c.2632G>A, XM_017000753.1:c.2632G>T, XM_047450096.1:c.3151G>A, XM_047450096.1:c.3151G>T, XM_047450111.1:c.2977G>A, XM_047450111.1:c.2977G>T, XM_047450141.1:c.3172G>A, XM_047450141.1:c.3172G>T, XM_047450142.1:c.3151G>A, XM_047450142.1:c.3151G>T, XM_047450105.1:c.2992G>A, XM_047450105.1:c.2992G>T, XM_047450145.1:c.2977G>A, XM_047450145.1:c.2977G>T, XM_047450149.1:c.2977G>A, XM_047450149.1:c.2977G>T, XM_047450150.1:c.2956G>A, XM_047450150.1:c.2956G>T, XM_047450153.1:c.2956G>A, XM_047450153.1:c.2956G>T, XM_047450130.1:c.2674G>A, XM_047450130.1:c.2674G>T, XM_047450121.1:c.2818G>A, XM_047450121.1:c.2818G>T, XM_047450123.1:c.2797G>A, XM_047450123.1:c.2797G>T, XM_047450129.1:c.2797G>A, XM_047450129.1:c.2797G>T, XM_047450116.1:c.2827G>A, XM_047450116.1:c.2827G>T, XM_047450122.1:c.2806G>A, XM_047450122.1:c.2806G>T, XM_047450138.1:c.2080G>A, XM_047450138.1:c.2080G>T, XP_005270713.1:p.Glu899Lys, XP_005270713.1:p.Glu899Ter, XP_005270712.1:p.Glu908Lys, XP_005270712.1:p.Glu908Ter, XP_006710540.1:p.Glu843Lys, XP_006710540.1:p.Glu843Ter, XP_011539361.1:p.Glu1058Lys, XP_011539361.1:p.Glu1058Ter, XP_011539363.1:p.Glu1058Lys, XP_011539363.1:p.Glu1058Ter, XP_011539364.1:p.Glu1051Lys, XP_011539364.1:p.Glu1051Ter, NP_055927.2:p.Glu986Lys, NP_055927.2:p.Glu986Ter, XP_011539371.1:p.Glu1058Lys, XP_011539371.1:p.Glu1058Ter, XP_011539366.1:p.Glu1005Lys, XP_011539366.1:p.Glu1005Ter, XP_011539369.1:p.Glu831Lys, XP_011539369.1:p.Glu831Ter, XP_016856241.1:p.Glu915Lys, XP_016856241.1:p.Glu915Ter, NP_001311250.1:p.Glu832Lys, NP_001311250.1:p.Glu832Ter, XP_016856244.1:p.Glu850Lys, XP_016856244.1:p.Glu850Ter, NP_001311249.1:p.Glu993Lys, NP_001311249.1:p.Glu993Ter, NP_001306174.1:p.Glu986Lys, NP_001306174.1:p.Glu986Ter, XP_011539365.1:p.Glu1008Lys, XP_011539365.1:p.Glu1008Ter, XP_011539370.1:p.Glu824Lys, XP_011539370.1:p.Glu824Ter, XP_016856242.1:p.Glu878Lys, XP_016856242.1:p.Glu878Ter, XP_047306052.1:p.Glu1051Lys, XP_047306052.1:p.Glu1051Ter, XP_047306067.1:p.Glu993Lys, XP_047306067.1:p.Glu993Ter, XP_047306097.1:p.Glu1058Lys, XP_047306097.1:p.Glu1058Ter, XP_047306098.1:p.Glu1051Lys, XP_047306098.1:p.Glu1051Ter, XP_047306061.1:p.Glu998Lys, XP_047306061.1:p.Glu998Ter, XP_047306101.1:p.Glu993Lys, XP_047306101.1:p.Glu993Ter, XP_047306105.1:p.Glu993Lys, XP_047306105.1:p.Glu993Ter, XP_047306106.1:p.Glu986Lys, XP_047306106.1:p.Glu986Ter, XP_047306109.1:p.Glu986Lys, XP_047306109.1:p.Glu986Ter, XP_047306086.1:p.Glu892Lys, XP_047306086.1:p.Glu892Ter, XP_047306077.1:p.Glu940Lys, XP_047306077.1:p.Glu940Ter, XP_047306079.1:p.Glu933Lys, XP_047306079.1:p.Glu933Ter, XP_047306085.1:p.Glu933Lys, XP_047306085.1:p.Glu933Ter, XP_047306072.1:p.Glu943Lys, XP_047306072.1:p.Glu943Ter, XP_047306078.1:p.Glu936Lys, XP_047306078.1:p.Glu936Ter, XP_047306094.1:p.Glu694Lys, XP_047306094.1:p.Glu694Ter

                                16.

                                rs1482059880 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:46035077 (GRCh38)
                                  1:46500749 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:46035076:C:T
                                  Gene:
                                  MAST2 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                  HGVS:
                                  NC_000001.11:g.46035077C>T, NC_000001.10:g.46500749C>T, XM_005270656.6:c.4147C>T, XM_005270656.5:c.4147C>T, XM_005270656.4:c.4147C>T, XM_005270656.3:c.4147C>T, XM_005270656.2:c.4147C>T, XM_005270656.1:c.4147C>T, XM_005270655.4:c.4174C>T, XM_005270655.3:c.4174C>T, XM_005270655.2:c.4174C>T, XM_005270655.1:c.4174C>T, XM_006710477.4:c.3979C>T, XM_006710477.3:c.3979C>T, XM_006710477.2:c.3979C>T, XM_006710477.1:c.3979C>T, XM_011541059.3:c.4624C>T, XM_011541059.2:c.4624C>T, XM_011541059.1:c.4624C>T, XM_011541061.3:c.4621C>T, XM_011541061.2:c.4621C>T, XM_011541061.1:c.4621C>T, XM_011541062.3:c.4603C>T, XM_011541062.2:c.4603C>T, XM_011541062.1:c.4603C>T, NM_015112.3:c.4408C>T, NM_015112.2:c.4408C>T, XM_011541069.3:c.*141C>T, XM_011541069.2:c.*141C>T, XM_011541069.1:c.*141C>T, XM_011541064.3:c.4465C>T, XM_011541064.2:c.4465C>T, XM_011541064.1:c.4465C>T, XM_011541067.3:c.3943C>T, XM_011541067.2:c.3943C>T, XM_011541067.1:c.3943C>T, XM_017000752.2:c.4195C>T, XM_017000752.1:c.4195C>T, NM_001324321.2:c.3946C>T, NM_001324321.1:c.3946C>T, XM_017000755.2:c.4000C>T, XM_017000755.1:c.4000C>T, NM_001324320.2:c.4429C>T, NM_001324320.1:c.4429C>T, NM_001319245.2:c.4405C>T, NM_001319245.1:c.4405C>T, XM_011541063.2:c.4474C>T, XM_011541063.1:c.4474C>T, XM_011541068.2:c.3922C>T, XM_011541068.1:c.3922C>T, XM_017000753.2:c.4084C>T, XM_017000753.1:c.4084C>T, XM_047450096.1:c.4600C>T, XM_047450111.1:c.4426C>T, XM_047450141.1:c.*141C>T, XM_047450142.1:c.*141C>T, XM_047450105.1:c.4444C>T, XM_047450145.1:c.*141C>T, XM_047450149.1:c.*141C>T, XM_047450150.1:c.*141C>T, XM_047450153.1:c.*141C>T, XM_047450130.1:c.4126C>T, XM_047450121.1:c.4270C>T, XM_047450123.1:c.4249C>T, XM_047450129.1:c.4246C>T, XM_047450116.1:c.4279C>T, XM_047450122.1:c.4255C>T, XM_047450138.1:c.3532C>T

                                  17.

                                  rs1480774333 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    1:45959471 (GRCh38)
                                    1:46425143 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:45959470:C:G
                                    Gene:
                                    MAST2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.45959471C>G, NC_000001.10:g.46425143C>G, XM_005270656.6:c.304C>G, XM_005270656.5:c.304C>G, XM_005270656.4:c.304C>G, XM_005270656.3:c.304C>G, XM_005270656.2:c.304C>G, XM_005270656.1:c.304C>G, XM_005270655.4:c.331C>G, XM_005270655.3:c.331C>G, XM_005270655.2:c.331C>G, XM_005270655.1:c.331C>G, XM_006710477.4:c.136C>G, XM_006710477.3:c.136C>G, XM_006710477.2:c.136C>G, XM_006710477.1:c.136C>G, XM_011541059.3:c.781C>G, XM_011541059.2:c.781C>G, XM_011541059.1:c.781C>G, XM_011541061.3:c.781C>G, XM_011541061.2:c.781C>G, XM_011541061.1:c.781C>G, XM_011541062.3:c.781C>G, XM_011541062.2:c.781C>G, XM_011541062.1:c.781C>G, NM_015112.3:c.586C>G, NM_015112.2:c.586C>G, XM_011541069.3:c.781C>G, XM_011541069.2:c.781C>G, XM_011541069.1:c.781C>G, XM_011541064.3:c.622C>G, XM_011541064.2:c.622C>G, XM_011541064.1:c.622C>G, XM_011541067.3:c.100C>G, XM_011541067.2:c.100C>G, XM_011541067.1:c.100C>G, XM_017000752.2:c.352C>G, XM_017000752.1:c.352C>G, NM_001324321.2:c.103C>G, NM_001324321.1:c.103C>G, XM_017000755.2:c.157C>G, XM_017000755.1:c.157C>G, NM_001324320.2:c.586C>G, NM_001324320.1:c.586C>G, NM_001319245.2:c.586C>G, NM_001319245.1:c.586C>G, XM_011541063.2:c.631C>G, XM_011541063.1:c.631C>G, XM_011541068.2:c.100C>G, XM_011541068.1:c.100C>G, XM_017000753.2:c.241C>G, XM_017000753.1:c.241C>G, XM_047450096.1:c.781C>G, XM_047450111.1:c.586C>G, XM_047450141.1:c.781C>G, XM_047450142.1:c.781C>G, XM_047450105.1:c.622C>G, XM_047450145.1:c.586C>G, XM_047450149.1:c.586C>G, XM_047450150.1:c.586C>G, XM_047450153.1:c.586C>G, XM_047450130.1:c.304C>G, XM_047450121.1:c.427C>G, XM_047450123.1:c.427C>G, XM_047450129.1:c.427C>G, XM_047450116.1:c.436C>G, XM_047450122.1:c.436C>G, XM_047450138.1:c.-291C>G, XP_005270713.1:p.His102Asp, XP_005270712.1:p.His111Asp, XP_006710540.1:p.His46Asp, XP_011539361.1:p.His261Asp, XP_011539363.1:p.His261Asp, XP_011539364.1:p.His261Asp, NP_055927.2:p.His196Asp, XP_011539371.1:p.His261Asp, XP_011539366.1:p.His208Asp, XP_011539369.1:p.His34Asp, XP_016856241.1:p.His118Asp, NP_001311250.1:p.His35Asp, XP_016856244.1:p.His53Asp, NP_001311249.1:p.His196Asp, NP_001306174.1:p.His196Asp, XP_011539365.1:p.His211Asp, XP_011539370.1:p.His34Asp, XP_016856242.1:p.His81Asp, XP_047306052.1:p.His261Asp, XP_047306067.1:p.His196Asp, XP_047306097.1:p.His261Asp, XP_047306098.1:p.His261Asp, XP_047306061.1:p.His208Asp, XP_047306101.1:p.His196Asp, XP_047306105.1:p.His196Asp, XP_047306106.1:p.His196Asp, XP_047306109.1:p.His196Asp, XP_047306086.1:p.His102Asp, XP_047306077.1:p.His143Asp, XP_047306079.1:p.His143Asp, XP_047306085.1:p.His143Asp, XP_047306072.1:p.His146Asp, XP_047306078.1:p.His146Asp

                                    18.

                                    rs1480519017 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:46029859 (GRCh38)
                                      1:46495531 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:46029858:A:G
                                      Gene:
                                      MAST2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.46029859A>G, NC_000001.10:g.46495531A>G, XM_005270656.6:c.2088A>G, XM_005270656.5:c.2088A>G, XM_005270656.4:c.2088A>G, XM_005270656.3:c.2088A>G, XM_005270656.2:c.2088A>G, XM_005270656.1:c.2088A>G, XM_005270655.4:c.2115A>G, XM_005270655.3:c.2115A>G, XM_005270655.2:c.2115A>G, XM_005270655.1:c.2115A>G, XM_006710477.4:c.1920A>G, XM_006710477.3:c.1920A>G, XM_006710477.2:c.1920A>G, XM_006710477.1:c.1920A>G, XM_011541059.3:c.2565A>G, XM_011541059.2:c.2565A>G, XM_011541059.1:c.2565A>G, XM_011541061.3:c.2565A>G, XM_011541061.2:c.2565A>G, XM_011541061.1:c.2565A>G, XM_011541062.3:c.2544A>G, XM_011541062.2:c.2544A>G, XM_011541062.1:c.2544A>G, NM_015112.3:c.2349A>G, NM_015112.2:c.2349A>G, XM_011541069.3:c.2565A>G, XM_011541069.2:c.2565A>G, XM_011541069.1:c.2565A>G, XM_011541064.3:c.2406A>G, XM_011541064.2:c.2406A>G, XM_011541064.1:c.2406A>G, XM_011541067.3:c.1884A>G, XM_011541067.2:c.1884A>G, XM_011541067.1:c.1884A>G, XM_017000752.2:c.2136A>G, XM_017000752.1:c.2136A>G, NM_001324321.2:c.1887A>G, NM_001324321.1:c.1887A>G, XM_017000755.2:c.1941A>G, XM_017000755.1:c.1941A>G, NM_001324320.2:c.2370A>G, NM_001324320.1:c.2370A>G, NM_001319245.2:c.2349A>G, NM_001319245.1:c.2349A>G, XM_011541063.2:c.2415A>G, XM_011541063.1:c.2415A>G, XM_011541068.2:c.1863A>G, XM_011541068.1:c.1863A>G, XM_017000753.2:c.2025A>G, XM_017000753.1:c.2025A>G, XM_047450096.1:c.2544A>G, XM_047450111.1:c.2370A>G, XM_047450141.1:c.2565A>G, XM_047450142.1:c.2544A>G, XM_047450105.1:c.2385A>G, XM_047450145.1:c.2370A>G, XM_047450149.1:c.2370A>G, XM_047450150.1:c.2349A>G, XM_047450153.1:c.2349A>G, XM_047450130.1:c.2067A>G, XM_047450121.1:c.2211A>G, XM_047450123.1:c.2190A>G, XM_047450129.1:c.2190A>G, XM_047450116.1:c.2220A>G, XM_047450122.1:c.2199A>G, XM_047450138.1:c.1473A>G

                                      19.

                                      rs1480346585 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        1:46033928 (GRCh38)
                                        1:46499600 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:46033927:G:A
                                        Gene:
                                        MAST2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.46033928G>A, NC_000001.10:g.46499600G>A, XM_005270656.6:c.3403G>A, XM_005270656.5:c.3403G>A, XM_005270656.4:c.3403G>A, XM_005270656.3:c.3403G>A, XM_005270656.2:c.3403G>A, XM_005270656.1:c.3403G>A, XM_005270655.4:c.3430G>A, XM_005270655.3:c.3430G>A, XM_005270655.2:c.3430G>A, XM_005270655.1:c.3430G>A, XM_006710477.4:c.3235G>A, XM_006710477.3:c.3235G>A, XM_006710477.2:c.3235G>A, XM_006710477.1:c.3235G>A, XM_011541059.3:c.3880G>A, XM_011541059.2:c.3880G>A, XM_011541059.1:c.3880G>A, XM_011541061.3:c.3880G>A, XM_011541061.2:c.3880G>A, XM_011541061.1:c.3880G>A, XM_011541062.3:c.3859G>A, XM_011541062.2:c.3859G>A, XM_011541062.1:c.3859G>A, NM_015112.3:c.3664G>A, NM_015112.2:c.3664G>A, XM_011541069.3:c.3880G>A, XM_011541069.2:c.3880G>A, XM_011541069.1:c.3880G>A, XM_011541064.3:c.3721G>A, XM_011541064.2:c.3721G>A, XM_011541064.1:c.3721G>A, XM_011541067.3:c.3199G>A, XM_011541067.2:c.3199G>A, XM_011541067.1:c.3199G>A, XM_017000752.2:c.3451G>A, XM_017000752.1:c.3451G>A, NM_001324321.2:c.3202G>A, NM_001324321.1:c.3202G>A, XM_017000755.2:c.3256G>A, XM_017000755.1:c.3256G>A, NM_001324320.2:c.3685G>A, NM_001324320.1:c.3685G>A, NM_001319245.2:c.3664G>A, NM_001319245.1:c.3664G>A, XM_011541063.2:c.3730G>A, XM_011541063.1:c.3730G>A, XM_011541068.2:c.3178G>A, XM_011541068.1:c.3178G>A, XM_017000753.2:c.3340G>A, XM_017000753.1:c.3340G>A, XM_047450096.1:c.3859G>A, XM_047450111.1:c.3685G>A, XM_047450141.1:c.3880G>A, XM_047450142.1:c.3859G>A, XM_047450105.1:c.3700G>A, XM_047450145.1:c.3685G>A, XM_047450149.1:c.3685G>A, XM_047450150.1:c.3664G>A, XM_047450153.1:c.3664G>A, XM_047450130.1:c.3382G>A, XM_047450121.1:c.3526G>A, XM_047450123.1:c.3505G>A, XM_047450129.1:c.3505G>A, XM_047450116.1:c.3535G>A, XM_047450122.1:c.3514G>A, XM_047450138.1:c.2788G>A, XP_005270713.1:p.Gly1135Arg, XP_005270712.1:p.Gly1144Arg, XP_006710540.1:p.Gly1079Arg, XP_011539361.1:p.Gly1294Arg, XP_011539363.1:p.Gly1294Arg, XP_011539364.1:p.Gly1287Arg, NP_055927.2:p.Gly1222Arg, XP_011539371.1:p.Gly1294Arg, XP_011539366.1:p.Gly1241Arg, XP_011539369.1:p.Gly1067Arg, XP_016856241.1:p.Gly1151Arg, NP_001311250.1:p.Gly1068Arg, XP_016856244.1:p.Gly1086Arg, NP_001311249.1:p.Gly1229Arg, NP_001306174.1:p.Gly1222Arg, XP_011539365.1:p.Gly1244Arg, XP_011539370.1:p.Gly1060Arg, XP_016856242.1:p.Gly1114Arg, XP_047306052.1:p.Gly1287Arg, XP_047306067.1:p.Gly1229Arg, XP_047306097.1:p.Gly1294Arg, XP_047306098.1:p.Gly1287Arg, XP_047306061.1:p.Gly1234Arg, XP_047306101.1:p.Gly1229Arg, XP_047306105.1:p.Gly1229Arg, XP_047306106.1:p.Gly1222Arg, XP_047306109.1:p.Gly1222Arg, XP_047306086.1:p.Gly1128Arg, XP_047306077.1:p.Gly1176Arg, XP_047306079.1:p.Gly1169Arg, XP_047306085.1:p.Gly1169Arg, XP_047306072.1:p.Gly1179Arg, XP_047306078.1:p.Gly1172Arg, XP_047306094.1:p.Gly930Arg

                                        20.

                                        rs1479188154 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:46002834 (GRCh38)
                                          1:46468506 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:46002833:C:T
                                          Gene:
                                          MAST2 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000001.11:g.46002834C>T, NC_000001.10:g.46468506C>T, XM_005270656.6:c.437C>T, XM_005270656.5:c.437C>T, XM_005270656.4:c.437C>T, XM_005270656.3:c.437C>T, XM_005270656.2:c.437C>T, XM_005270656.1:c.437C>T, XM_005270655.4:c.464C>T, XM_005270655.3:c.464C>T, XM_005270655.2:c.464C>T, XM_005270655.1:c.464C>T, XM_006710477.4:c.269C>T, XM_006710477.3:c.269C>T, XM_006710477.2:c.269C>T, XM_006710477.1:c.269C>T, XM_011541059.3:c.914C>T, XM_011541059.2:c.914C>T, XM_011541059.1:c.914C>T, XM_011541061.3:c.914C>T, XM_011541061.2:c.914C>T, XM_011541061.1:c.914C>T, XM_011541062.3:c.893C>T, XM_011541062.2:c.893C>T, XM_011541062.1:c.893C>T, NM_015112.3:c.698C>T, NM_015112.2:c.698C>T, XM_011541069.3:c.914C>T, XM_011541069.2:c.914C>T, XM_011541069.1:c.914C>T, XM_011541064.3:c.755C>T, XM_011541064.2:c.755C>T, XM_011541064.1:c.755C>T, XM_011541067.3:c.233C>T, XM_011541067.2:c.233C>T, XM_011541067.1:c.233C>T, XM_017000752.2:c.485C>T, XM_017000752.1:c.485C>T, NM_001324321.2:c.236C>T, NM_001324321.1:c.236C>T, XM_017000755.2:c.290C>T, XM_017000755.1:c.290C>T, NM_001324320.2:c.719C>T, NM_001324320.1:c.719C>T, NM_001319245.2:c.698C>T, NM_001319245.1:c.698C>T, XM_011541063.2:c.764C>T, XM_011541063.1:c.764C>T, XM_011541068.2:c.212C>T, XM_011541068.1:c.212C>T, XM_017000753.2:c.374C>T, XM_017000753.1:c.374C>T, XM_047450096.1:c.893C>T, XM_047450111.1:c.719C>T, XM_047450141.1:c.914C>T, XM_047450142.1:c.893C>T, XM_047450105.1:c.734C>T, XM_047450145.1:c.719C>T, XM_047450149.1:c.719C>T, XM_047450150.1:c.698C>T, XM_047450153.1:c.698C>T, XM_047450130.1:c.416C>T, XM_047450121.1:c.560C>T, XM_047450123.1:c.539C>T, XM_047450129.1:c.539C>T, XM_047450116.1:c.569C>T, XM_047450122.1:c.548C>T, XM_047450138.1:c.-179C>T, XP_005270713.1:p.Ser146Phe, XP_005270712.1:p.Ser155Phe, XP_006710540.1:p.Ser90Phe, XP_011539361.1:p.Ser305Phe, XP_011539363.1:p.Ser305Phe, XP_011539364.1:p.Ser298Phe, NP_055927.2:p.Ser233Phe, XP_011539371.1:p.Ser305Phe, XP_011539366.1:p.Ser252Phe, XP_011539369.1:p.Ser78Phe, XP_016856241.1:p.Ser162Phe, NP_001311250.1:p.Ser79Phe, XP_016856244.1:p.Ser97Phe, NP_001311249.1:p.Ser240Phe, NP_001306174.1:p.Ser233Phe, XP_011539365.1:p.Ser255Phe, XP_011539370.1:p.Ser71Phe, XP_016856242.1:p.Ser125Phe, XP_047306052.1:p.Ser298Phe, XP_047306067.1:p.Ser240Phe, XP_047306097.1:p.Ser305Phe, XP_047306098.1:p.Ser298Phe, XP_047306061.1:p.Ser245Phe, XP_047306101.1:p.Ser240Phe, XP_047306105.1:p.Ser240Phe, XP_047306106.1:p.Ser233Phe, XP_047306109.1:p.Ser233Phe, XP_047306086.1:p.Ser139Phe, XP_047306077.1:p.Ser187Phe, XP_047306079.1:p.Ser180Phe, XP_047306085.1:p.Ser180Phe, XP_047306072.1:p.Ser190Phe, XP_047306078.1:p.Ser183Phe

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