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Items: 1 to 20 of 1470

1.

rs1490850743 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,G,T [Show Flanks]
    Chromosome:
    19:10991282 (GRCh38)
    19:11101958 (GRCh37)
    Canonical SPDI:
    NC_000019.10:10991281:C:A,NC_000019.10:10991281:C:G,NC_000019.10:10991281:C:T
    Gene:
    SMARCA4 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
    Clinical significance:
    pathogenic
    Validated:
    by cluster
    HGVS:
    NC_000019.10:g.10991282C>A, NC_000019.10:g.10991282C>G, NC_000019.10:g.10991282C>T, NC_000019.9:g.11101958C>A, NC_000019.9:g.11101958C>G, NC_000019.9:g.11101958C>T, NG_011556.3:g.35351C>A, NG_011556.3:g.35351C>G, NG_011556.3:g.35351C>T, NM_003072.5:c.1378C>A, NM_003072.5:c.1378C>G, NM_003072.5:c.1378C>T, NM_003072.4:c.1378C>A, NM_003072.4:c.1378C>G, NM_003072.4:c.1378C>T, NM_003072.3:c.1378C>A, NM_003072.3:c.1378C>G, NM_003072.3:c.1378C>T, NM_001128847.4:c.1378C>A, NM_001128847.4:c.1378C>G, NM_001128847.4:c.1378C>T, NM_001128847.3:c.1378C>A, NM_001128847.3:c.1378C>G, NM_001128847.3:c.1378C>T, NM_001128847.2:c.1378C>A, NM_001128847.2:c.1378C>G, NM_001128847.2:c.1378C>T, NM_001128847.1:c.1378C>A, NM_001128847.1:c.1378C>G, NM_001128847.1:c.1378C>T, NM_001128849.3:c.1378C>A, NM_001128849.3:c.1378C>G, NM_001128849.3:c.1378C>T, NM_001128849.2:c.1378C>A, NM_001128849.2:c.1378C>G, NM_001128849.2:c.1378C>T, NM_001128849.1:c.1378C>A, NM_001128849.1:c.1378C>G, NM_001128849.1:c.1378C>T, NM_001128844.3:c.1378C>A, NM_001128844.3:c.1378C>G, NM_001128844.3:c.1378C>T, NM_001128844.2:c.1378C>A, NM_001128844.2:c.1378C>G, NM_001128844.2:c.1378C>T, NM_001128844.1:c.1378C>A, NM_001128844.1:c.1378C>G, NM_001128844.1:c.1378C>T, NM_001128845.2:c.1378C>A, NM_001128845.2:c.1378C>G, NM_001128845.2:c.1378C>T, NM_001128845.1:c.1378C>A, NM_001128845.1:c.1378C>G, NM_001128845.1:c.1378C>T, NM_001128846.2:c.1378C>A, NM_001128846.2:c.1378C>G, NM_001128846.2:c.1378C>T, NM_001128846.1:c.1378C>A, NM_001128846.1:c.1378C>G, NM_001128846.1:c.1378C>T, NM_001128848.2:c.1378C>A, NM_001128848.2:c.1378C>G, NM_001128848.2:c.1378C>T, NM_001128848.1:c.1378C>A, NM_001128848.1:c.1378C>G, NM_001128848.1:c.1378C>T, NR_164683.1:n.1554C>A, NR_164683.1:n.1554C>G, NR_164683.1:n.1554C>T, NM_001387283.1:c.1378C>A, NM_001387283.1:c.1378C>G, NM_001387283.1:c.1378C>T, NM_001411150.1:c.1378C>A, NM_001411150.1:c.1378C>G, NM_001411150.1:c.1378C>T, NM_001374457.1:c.1378C>A, NM_001374457.1:c.1378C>G, NM_001374457.1:c.1378C>T, XM_006722846.3:c.1378C>A, XM_006722846.3:c.1378C>G, XM_006722846.3:c.1378C>T, XM_006722846.2:c.1378C>A, XM_006722846.2:c.1378C>G, XM_006722846.2:c.1378C>T, XM_006722846.1:c.1378C>A, XM_006722846.1:c.1378C>G, XM_006722846.1:c.1378C>T, XM_011528198.2:c.1378C>A, XM_011528198.2:c.1378C>G, XM_011528198.2:c.1378C>T, XM_011528198.1:c.1378C>A, XM_011528198.1:c.1378C>G, XM_011528198.1:c.1378C>T, XM_024451658.2:c.1378C>A, XM_024451658.2:c.1378C>G, XM_024451658.2:c.1378C>T, XM_024451658.1:c.1378C>A, XM_024451658.1:c.1378C>G, XM_024451658.1:c.1378C>T, XM_024451661.2:c.1378C>A, XM_024451661.2:c.1378C>G, XM_024451661.2:c.1378C>T, XM_024451661.1:c.1378C>A, XM_024451661.1:c.1378C>G, XM_024451661.1:c.1378C>T, XM_024451663.2:c.1378C>A, XM_024451663.2:c.1378C>G, XM_024451663.2:c.1378C>T, XM_024451663.1:c.1378C>A, XM_024451663.1:c.1378C>G, XM_024451663.1:c.1378C>T, XM_024451667.2:c.1378C>A, XM_024451667.2:c.1378C>G, XM_024451667.2:c.1378C>T, XM_024451667.1:c.1378C>A, XM_024451667.1:c.1378C>G, XM_024451667.1:c.1378C>T, XM_047439243.1:c.1378C>A, XM_047439243.1:c.1378C>G, XM_047439243.1:c.1378C>T, XM_047439248.1:c.1378C>A, XM_047439248.1:c.1378C>G, XM_047439248.1:c.1378C>T, XM_047439251.1:c.1378C>A, XM_047439251.1:c.1378C>G, XM_047439251.1:c.1378C>T, XM_047439244.1:c.1378C>A, XM_047439244.1:c.1378C>G, XM_047439244.1:c.1378C>T, XM_047439245.1:c.1378C>A, XM_047439245.1:c.1378C>G, XM_047439245.1:c.1378C>T, XM_047439246.1:c.1378C>A, XM_047439246.1:c.1378C>G, XM_047439246.1:c.1378C>T, XM_047439249.1:c.1378C>A, XM_047439249.1:c.1378C>G, XM_047439249.1:c.1378C>T, XM_047439247.1:c.1378C>A, XM_047439247.1:c.1378C>G, XM_047439247.1:c.1378C>T, XM_047439250.1:c.1378C>A, XM_047439250.1:c.1378C>G, XM_047439250.1:c.1378C>T, NP_003063.2:p.Gln460Lys, NP_003063.2:p.Gln460Glu, NP_003063.2:p.Gln460Ter, NP_001122319.1:p.Gln460Lys, NP_001122319.1:p.Gln460Glu, NP_001122319.1:p.Gln460Ter, NP_001122321.1:p.Gln460Lys, NP_001122321.1:p.Gln460Glu, NP_001122321.1:p.Gln460Ter, NP_001122316.1:p.Gln460Lys, NP_001122316.1:p.Gln460Glu, NP_001122316.1:p.Gln460Ter, NP_001122317.1:p.Gln460Lys, NP_001122317.1:p.Gln460Glu, NP_001122317.1:p.Gln460Ter, NP_001122318.1:p.Gln460Lys, NP_001122318.1:p.Gln460Glu, NP_001122318.1:p.Gln460Ter, NP_001122320.1:p.Gln460Lys, NP_001122320.1:p.Gln460Glu, NP_001122320.1:p.Gln460Ter, NP_001374212.1:p.Gln460Lys, NP_001374212.1:p.Gln460Glu, NP_001374212.1:p.Gln460Ter, NP_001361386.1:p.Gln460Lys, NP_001361386.1:p.Gln460Glu, NP_001361386.1:p.Gln460Ter, XP_006722909.1:p.Gln460Lys, XP_006722909.1:p.Gln460Glu, XP_006722909.1:p.Gln460Ter, XP_011526500.1:p.Gln460Lys, XP_011526500.1:p.Gln460Glu, XP_011526500.1:p.Gln460Ter, XP_024307426.1:p.Gln460Lys, XP_024307426.1:p.Gln460Glu, XP_024307426.1:p.Gln460Ter, XP_024307429.1:p.Gln460Lys, XP_024307429.1:p.Gln460Glu, XP_024307429.1:p.Gln460Ter, XP_024307431.1:p.Gln460Lys, XP_024307431.1:p.Gln460Glu, XP_024307431.1:p.Gln460Ter, XP_024307435.1:p.Gln460Lys, XP_024307435.1:p.Gln460Glu, XP_024307435.1:p.Gln460Ter, XP_047295199.1:p.Gln460Lys, XP_047295199.1:p.Gln460Glu, XP_047295199.1:p.Gln460Ter, XP_047295204.1:p.Gln460Lys, XP_047295204.1:p.Gln460Glu, XP_047295204.1:p.Gln460Ter, XP_047295207.1:p.Gln460Lys, XP_047295207.1:p.Gln460Glu, XP_047295207.1:p.Gln460Ter, XP_047295200.1:p.Gln460Lys, XP_047295200.1:p.Gln460Glu, XP_047295200.1:p.Gln460Ter, XP_047295201.1:p.Gln460Lys, XP_047295201.1:p.Gln460Glu, XP_047295201.1:p.Gln460Ter, XP_047295202.1:p.Gln460Lys, XP_047295202.1:p.Gln460Glu, XP_047295202.1:p.Gln460Ter, XP_047295205.1:p.Gln460Lys, XP_047295205.1:p.Gln460Glu, XP_047295205.1:p.Gln460Ter, XP_047295203.1:p.Gln460Lys, XP_047295203.1:p.Gln460Glu, XP_047295203.1:p.Gln460Ter, XP_047295206.1:p.Gln460Lys, XP_047295206.1:p.Gln460Glu, XP_047295206.1:p.Gln460Ter

    2.

    rs1490667542 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      19:11058880 (GRCh38)
      19:11169556 (GRCh37)
      Canonical SPDI:
      NC_000019.10:11058879:G:C
      Gene:
      SMARCA4 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000019.10:g.11058880G>C, NC_000019.9:g.11169556G>C, NG_011556.3:g.102949G>C, NM_003072.5:c.4626G>C, NM_003072.4:c.4626G>C, NM_003072.3:c.4626G>C, NM_001128847.4:c.4527G>C, NM_001128847.3:c.4527G>C, NM_001128847.2:c.4527G>C, NM_001128847.1:c.4527G>C, NM_001128849.3:c.4722G>C, NM_001128849.2:c.4722G>C, NM_001128849.1:c.4722G>C, NM_001128844.3:c.4626G>C, NM_001128844.2:c.4626G>C, NM_001128844.1:c.4626G>C, NM_001128845.2:c.4536G>C, NM_001128845.1:c.4536G>C, NM_001128846.2:c.4533G>C, NM_001128846.1:c.4533G>C, NM_001128848.2:c.4524G>C, NM_001128848.1:c.4524G>C, NR_164683.1:n.5013G>C, NM_001387283.1:c.4722G>C, NM_001411150.1:c.4623G>C, NM_001374457.1:c.4527G>C, XM_006722846.3:c.4722G>C, XM_006722846.2:c.4722G>C, XM_006722846.1:c.4722G>C, XM_011528198.2:c.4722G>C, XM_011528198.1:c.4722G>C, XM_024451658.2:c.4722G>C, XM_024451658.1:c.4722G>C, XM_024451661.2:c.4623G>C, XM_024451661.1:c.4623G>C, XM_024451663.2:c.4620G>C, XM_024451663.1:c.4620G>C, XM_024451667.2:c.4524G>C, XM_024451667.1:c.4524G>C, XM_047439243.1:c.4722G>C, XM_047439248.1:c.4527G>C, XM_047439251.1:c.4524G>C, XM_047439244.1:c.4626G>C, XM_047439245.1:c.4623G>C, XM_047439246.1:c.4620G>C, XM_047439249.1:c.4524G>C, XM_047439247.1:c.4527G>C, XM_047439250.1:c.4524G>C, NP_003063.2:p.Glu1542Asp, NP_001122319.1:p.Glu1509Asp, NP_001122321.1:p.Glu1574Asp, NP_001122316.1:p.Glu1542Asp, NP_001122317.1:p.Glu1512Asp, NP_001122318.1:p.Glu1511Asp, NP_001122320.1:p.Glu1508Asp, NP_001374212.1:p.Glu1574Asp, NP_001361386.1:p.Glu1509Asp, XP_006722909.1:p.Glu1574Asp, XP_011526500.1:p.Glu1574Asp, XP_024307426.1:p.Glu1574Asp, XP_024307429.1:p.Glu1541Asp, XP_024307431.1:p.Glu1540Asp, XP_024307435.1:p.Glu1508Asp, XP_047295199.1:p.Glu1574Asp, XP_047295204.1:p.Glu1509Asp, XP_047295207.1:p.Glu1508Asp, XP_047295200.1:p.Glu1542Asp, XP_047295201.1:p.Glu1541Asp, XP_047295202.1:p.Glu1540Asp, XP_047295205.1:p.Glu1508Asp, XP_047295203.1:p.Glu1509Asp, XP_047295206.1:p.Glu1508Asp

      3.

      rs1490308523 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        19:11030827 (GRCh38)
        19:11141503 (GRCh37)
        Canonical SPDI:
        NC_000019.10:11030826:G:A,NC_000019.10:11030826:G:C
        Gene:
        SMARCA4 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Clinical significance:
        likely-benign
        Validated:
        by cluster
        HGVS:
        NC_000019.10:g.11030827G>A, NC_000019.10:g.11030827G>C, NC_000019.9:g.11141503G>A, NC_000019.9:g.11141503G>C, NG_011556.3:g.74896G>A, NG_011556.3:g.74896G>C, NM_003072.5:c.3480G>A, NM_003072.5:c.3480G>C, NM_003072.4:c.3480G>A, NM_003072.4:c.3480G>C, NM_003072.3:c.3480G>A, NM_003072.3:c.3480G>C, NM_001128847.4:c.3480G>A, NM_001128847.4:c.3480G>C, NM_001128847.3:c.3480G>A, NM_001128847.3:c.3480G>C, NM_001128847.2:c.3480G>A, NM_001128847.2:c.3480G>C, NM_001128847.1:c.3480G>A, NM_001128847.1:c.3480G>C, NM_001128849.3:c.3480G>A, NM_001128849.3:c.3480G>C, NM_001128849.2:c.3480G>A, NM_001128849.2:c.3480G>C, NM_001128849.1:c.3480G>A, NM_001128849.1:c.3480G>C, NM_001128844.3:c.3480G>A, NM_001128844.3:c.3480G>C, NM_001128844.2:c.3480G>A, NM_001128844.2:c.3480G>C, NM_001128844.1:c.3480G>A, NM_001128844.1:c.3480G>C, NM_001128845.2:c.3480G>A, NM_001128845.2:c.3480G>C, NM_001128845.1:c.3480G>A, NM_001128845.1:c.3480G>C, NM_001128846.2:c.3480G>A, NM_001128846.2:c.3480G>C, NM_001128846.1:c.3480G>A, NM_001128846.1:c.3480G>C, NM_001128848.2:c.3480G>A, NM_001128848.2:c.3480G>C, NM_001128848.1:c.3480G>A, NM_001128848.1:c.3480G>C, NR_164683.1:n.3770G>A, NR_164683.1:n.3770G>C, NM_001387283.1:c.3480G>A, NM_001387283.1:c.3480G>C, NM_001411150.1:c.3480G>A, NM_001411150.1:c.3480G>C, NM_001374457.1:c.3480G>A, NM_001374457.1:c.3480G>C, XM_006722846.3:c.3480G>A, XM_006722846.3:c.3480G>C, XM_006722846.2:c.3480G>A, XM_006722846.2:c.3480G>C, XM_006722846.1:c.3480G>A, XM_006722846.1:c.3480G>C, XM_011528198.2:c.3480G>A, XM_011528198.2:c.3480G>C, XM_011528198.1:c.3480G>A, XM_011528198.1:c.3480G>C, XM_024451658.2:c.3480G>A, XM_024451658.2:c.3480G>C, XM_024451658.1:c.3480G>A, XM_024451658.1:c.3480G>C, XM_024451661.2:c.3480G>A, XM_024451661.2:c.3480G>C, XM_024451661.1:c.3480G>A, XM_024451661.1:c.3480G>C, XM_024451663.2:c.3480G>A, XM_024451663.2:c.3480G>C, XM_024451663.1:c.3480G>A, XM_024451663.1:c.3480G>C, XM_024451667.2:c.3480G>A, XM_024451667.2:c.3480G>C, XM_024451667.1:c.3480G>A, XM_024451667.1:c.3480G>C, XM_047439243.1:c.3480G>A, XM_047439243.1:c.3480G>C, XM_047439248.1:c.3480G>A, XM_047439248.1:c.3480G>C, XM_047439251.1:c.3480G>A, XM_047439251.1:c.3480G>C, XM_047439244.1:c.3480G>A, XM_047439244.1:c.3480G>C, XM_047439245.1:c.3480G>A, XM_047439245.1:c.3480G>C, XM_047439246.1:c.3480G>A, XM_047439246.1:c.3480G>C, XM_047439249.1:c.3480G>A, XM_047439249.1:c.3480G>C, XM_047439247.1:c.3480G>A, XM_047439247.1:c.3480G>C, XM_047439250.1:c.3480G>A, XM_047439250.1:c.3480G>C

        4.

        rs1489673789 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          19:10984364 (GRCh38)
          19:11095040 (GRCh37)
          Canonical SPDI:
          NC_000019.10:10984363:G:A,NC_000019.10:10984363:G:C
          Gene:
          SMARCA4 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
          Clinical significance:
          uncertain-significance
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (TOPMED)
          HGVS:
          NC_000019.10:g.10984364G>A, NC_000019.10:g.10984364G>C, NC_000019.9:g.11095040G>A, NC_000019.9:g.11095040G>C, NG_011556.3:g.28433G>A, NG_011556.3:g.28433G>C, NM_003072.5:c.213G>A, NM_003072.5:c.213G>C, NM_003072.4:c.213G>A, NM_003072.4:c.213G>C, NM_003072.3:c.213G>A, NM_003072.3:c.213G>C, NM_001128847.4:c.213G>A, NM_001128847.4:c.213G>C, NM_001128847.3:c.213G>A, NM_001128847.3:c.213G>C, NM_001128847.2:c.213G>A, NM_001128847.2:c.213G>C, NM_001128847.1:c.213G>A, NM_001128847.1:c.213G>C, NM_001128849.3:c.213G>A, NM_001128849.3:c.213G>C, NM_001128849.2:c.213G>A, NM_001128849.2:c.213G>C, NM_001128849.1:c.213G>A, NM_001128849.1:c.213G>C, NM_001128844.3:c.213G>A, NM_001128844.3:c.213G>C, NM_001128844.2:c.213G>A, NM_001128844.2:c.213G>C, NM_001128844.1:c.213G>A, NM_001128844.1:c.213G>C, NM_001128845.2:c.213G>A, NM_001128845.2:c.213G>C, NM_001128845.1:c.213G>A, NM_001128845.1:c.213G>C, NM_001128846.2:c.213G>A, NM_001128846.2:c.213G>C, NM_001128846.1:c.213G>A, NM_001128846.1:c.213G>C, NM_001128848.2:c.213G>A, NM_001128848.2:c.213G>C, NM_001128848.1:c.213G>A, NM_001128848.1:c.213G>C, NR_164683.1:n.389G>A, NR_164683.1:n.389G>C, NM_001387283.1:c.213G>A, NM_001387283.1:c.213G>C, NM_001411150.1:c.213G>A, NM_001411150.1:c.213G>C, NM_001374457.1:c.213G>A, NM_001374457.1:c.213G>C, XM_006722846.3:c.213G>A, XM_006722846.3:c.213G>C, XM_006722846.2:c.213G>A, XM_006722846.2:c.213G>C, XM_006722846.1:c.213G>A, XM_006722846.1:c.213G>C, XM_011528198.2:c.213G>A, XM_011528198.2:c.213G>C, XM_011528198.1:c.213G>A, XM_011528198.1:c.213G>C, XM_024451658.2:c.213G>A, XM_024451658.2:c.213G>C, XM_024451658.1:c.213G>A, XM_024451658.1:c.213G>C, XM_024451661.2:c.213G>A, XM_024451661.2:c.213G>C, XM_024451661.1:c.213G>A, XM_024451661.1:c.213G>C, XM_024451663.2:c.213G>A, XM_024451663.2:c.213G>C, XM_024451663.1:c.213G>A, XM_024451663.1:c.213G>C, XM_024451667.2:c.213G>A, XM_024451667.2:c.213G>C, XM_024451667.1:c.213G>A, XM_024451667.1:c.213G>C, XM_047439243.1:c.213G>A, XM_047439243.1:c.213G>C, XM_047439248.1:c.213G>A, XM_047439248.1:c.213G>C, XM_047439251.1:c.213G>A, XM_047439251.1:c.213G>C, XM_047439244.1:c.213G>A, XM_047439244.1:c.213G>C, XM_047439245.1:c.213G>A, XM_047439245.1:c.213G>C, XM_047439246.1:c.213G>A, XM_047439246.1:c.213G>C, XM_047439249.1:c.213G>A, XM_047439249.1:c.213G>C, XM_047439247.1:c.213G>A, XM_047439247.1:c.213G>C, XM_047439250.1:c.213G>A, XM_047439250.1:c.213G>C, NP_003063.2:p.Gln71His, NP_001122319.1:p.Gln71His, NP_001122321.1:p.Gln71His, NP_001122316.1:p.Gln71His, NP_001122317.1:p.Gln71His, NP_001122318.1:p.Gln71His, NP_001122320.1:p.Gln71His, NP_001374212.1:p.Gln71His, NP_001361386.1:p.Gln71His, XP_006722909.1:p.Gln71His, XP_011526500.1:p.Gln71His, XP_024307426.1:p.Gln71His, XP_024307429.1:p.Gln71His, XP_024307431.1:p.Gln71His, XP_024307435.1:p.Gln71His, XP_047295199.1:p.Gln71His, XP_047295204.1:p.Gln71His, XP_047295207.1:p.Gln71His, XP_047295200.1:p.Gln71His, XP_047295201.1:p.Gln71His, XP_047295202.1:p.Gln71His, XP_047295205.1:p.Gln71His, XP_047295203.1:p.Gln71His, XP_047295206.1:p.Gln71His

          5.

          rs1489647083 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G,T [Show Flanks]
            Chromosome:
            19:10986932 (GRCh38)
            19:11097608 (GRCh37)
            Canonical SPDI:
            NC_000019.10:10986931:C:A,NC_000019.10:10986931:C:G,NC_000019.10:10986931:C:T
            Gene:
            SMARCA4 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Clinical significance:
            uncertain-significance
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            G=0.000014/2 (GnomAD)
            HGVS:
            NC_000019.10:g.10986932C>A, NC_000019.10:g.10986932C>G, NC_000019.10:g.10986932C>T, NC_000019.9:g.11097608C>A, NC_000019.9:g.11097608C>G, NC_000019.9:g.11097608C>T, NG_011556.3:g.31001C>A, NG_011556.3:g.31001C>G, NG_011556.3:g.31001C>T, NM_003072.5:c.788C>A, NM_003072.5:c.788C>G, NM_003072.5:c.788C>T, NM_003072.4:c.788C>A, NM_003072.4:c.788C>G, NM_003072.4:c.788C>T, NM_003072.3:c.788C>A, NM_003072.3:c.788C>G, NM_003072.3:c.788C>T, NM_001128847.4:c.788C>A, NM_001128847.4:c.788C>G, NM_001128847.4:c.788C>T, NM_001128847.3:c.788C>A, NM_001128847.3:c.788C>G, NM_001128847.3:c.788C>T, NM_001128847.2:c.788C>A, NM_001128847.2:c.788C>G, NM_001128847.2:c.788C>T, NM_001128847.1:c.788C>A, NM_001128847.1:c.788C>G, NM_001128847.1:c.788C>T, NM_001128849.3:c.788C>A, NM_001128849.3:c.788C>G, NM_001128849.3:c.788C>T, NM_001128849.2:c.788C>A, NM_001128849.2:c.788C>G, NM_001128849.2:c.788C>T, NM_001128849.1:c.788C>A, NM_001128849.1:c.788C>G, NM_001128849.1:c.788C>T, NM_001128844.3:c.788C>A, NM_001128844.3:c.788C>G, NM_001128844.3:c.788C>T, NM_001128844.2:c.788C>A, NM_001128844.2:c.788C>G, NM_001128844.2:c.788C>T, NM_001128844.1:c.788C>A, NM_001128844.1:c.788C>G, NM_001128844.1:c.788C>T, NM_001128845.2:c.788C>A, NM_001128845.2:c.788C>G, NM_001128845.2:c.788C>T, NM_001128845.1:c.788C>A, NM_001128845.1:c.788C>G, NM_001128845.1:c.788C>T, NM_001128846.2:c.788C>A, NM_001128846.2:c.788C>G, NM_001128846.2:c.788C>T, NM_001128846.1:c.788C>A, NM_001128846.1:c.788C>G, NM_001128846.1:c.788C>T, NM_001128848.2:c.788C>A, NM_001128848.2:c.788C>G, NM_001128848.2:c.788C>T, NM_001128848.1:c.788C>A, NM_001128848.1:c.788C>G, NM_001128848.1:c.788C>T, NR_164683.1:n.964C>A, NR_164683.1:n.964C>G, NR_164683.1:n.964C>T, NM_001387283.1:c.788C>A, NM_001387283.1:c.788C>G, NM_001387283.1:c.788C>T, NM_001411150.1:c.788C>A, NM_001411150.1:c.788C>G, NM_001411150.1:c.788C>T, NM_001374457.1:c.788C>A, NM_001374457.1:c.788C>G, NM_001374457.1:c.788C>T, XM_006722846.3:c.788C>A, XM_006722846.3:c.788C>G, XM_006722846.3:c.788C>T, XM_006722846.2:c.788C>A, XM_006722846.2:c.788C>G, XM_006722846.2:c.788C>T, XM_006722846.1:c.788C>A, XM_006722846.1:c.788C>G, XM_006722846.1:c.788C>T, XM_011528198.2:c.788C>A, XM_011528198.2:c.788C>G, XM_011528198.2:c.788C>T, XM_011528198.1:c.788C>A, XM_011528198.1:c.788C>G, XM_011528198.1:c.788C>T, XM_024451658.2:c.788C>A, XM_024451658.2:c.788C>G, XM_024451658.2:c.788C>T, XM_024451658.1:c.788C>A, XM_024451658.1:c.788C>G, XM_024451658.1:c.788C>T, XM_024451661.2:c.788C>A, XM_024451661.2:c.788C>G, XM_024451661.2:c.788C>T, XM_024451661.1:c.788C>A, XM_024451661.1:c.788C>G, XM_024451661.1:c.788C>T, XM_024451663.2:c.788C>A, XM_024451663.2:c.788C>G, XM_024451663.2:c.788C>T, XM_024451663.1:c.788C>A, XM_024451663.1:c.788C>G, XM_024451663.1:c.788C>T, XM_024451667.2:c.788C>A, XM_024451667.2:c.788C>G, XM_024451667.2:c.788C>T, XM_024451667.1:c.788C>A, XM_024451667.1:c.788C>G, XM_024451667.1:c.788C>T, XM_047439243.1:c.788C>A, XM_047439243.1:c.788C>G, XM_047439243.1:c.788C>T, XM_047439248.1:c.788C>A, XM_047439248.1:c.788C>G, XM_047439248.1:c.788C>T, XM_047439251.1:c.788C>A, XM_047439251.1:c.788C>G, XM_047439251.1:c.788C>T, XM_047439244.1:c.788C>A, XM_047439244.1:c.788C>G, XM_047439244.1:c.788C>T, XM_047439245.1:c.788C>A, XM_047439245.1:c.788C>G, XM_047439245.1:c.788C>T, XM_047439246.1:c.788C>A, XM_047439246.1:c.788C>G, XM_047439246.1:c.788C>T, XM_047439249.1:c.788C>A, XM_047439249.1:c.788C>G, XM_047439249.1:c.788C>T, XM_047439247.1:c.788C>A, XM_047439247.1:c.788C>G, XM_047439247.1:c.788C>T, XM_047439250.1:c.788C>A, XM_047439250.1:c.788C>G, XM_047439250.1:c.788C>T, NP_003063.2:p.Pro263Gln, NP_003063.2:p.Pro263Arg, NP_003063.2:p.Pro263Leu, NP_001122319.1:p.Pro263Gln, NP_001122319.1:p.Pro263Arg, NP_001122319.1:p.Pro263Leu, NP_001122321.1:p.Pro263Gln, NP_001122321.1:p.Pro263Arg, NP_001122321.1:p.Pro263Leu, NP_001122316.1:p.Pro263Gln, NP_001122316.1:p.Pro263Arg, NP_001122316.1:p.Pro263Leu, NP_001122317.1:p.Pro263Gln, NP_001122317.1:p.Pro263Arg, NP_001122317.1:p.Pro263Leu, NP_001122318.1:p.Pro263Gln, NP_001122318.1:p.Pro263Arg, NP_001122318.1:p.Pro263Leu, NP_001122320.1:p.Pro263Gln, NP_001122320.1:p.Pro263Arg, NP_001122320.1:p.Pro263Leu, NP_001374212.1:p.Pro263Gln, NP_001374212.1:p.Pro263Arg, NP_001374212.1:p.Pro263Leu, NP_001361386.1:p.Pro263Gln, NP_001361386.1:p.Pro263Arg, NP_001361386.1:p.Pro263Leu, XP_006722909.1:p.Pro263Gln, XP_006722909.1:p.Pro263Arg, XP_006722909.1:p.Pro263Leu, XP_011526500.1:p.Pro263Gln, XP_011526500.1:p.Pro263Arg, XP_011526500.1:p.Pro263Leu, XP_024307426.1:p.Pro263Gln, XP_024307426.1:p.Pro263Arg, XP_024307426.1:p.Pro263Leu, XP_024307429.1:p.Pro263Gln, XP_024307429.1:p.Pro263Arg, XP_024307429.1:p.Pro263Leu, XP_024307431.1:p.Pro263Gln, XP_024307431.1:p.Pro263Arg, XP_024307431.1:p.Pro263Leu, XP_024307435.1:p.Pro263Gln, XP_024307435.1:p.Pro263Arg, XP_024307435.1:p.Pro263Leu, XP_047295199.1:p.Pro263Gln, XP_047295199.1:p.Pro263Arg, XP_047295199.1:p.Pro263Leu, XP_047295204.1:p.Pro263Gln, XP_047295204.1:p.Pro263Arg, XP_047295204.1:p.Pro263Leu, XP_047295207.1:p.Pro263Gln, XP_047295207.1:p.Pro263Arg, XP_047295207.1:p.Pro263Leu, XP_047295200.1:p.Pro263Gln, XP_047295200.1:p.Pro263Arg, XP_047295200.1:p.Pro263Leu, XP_047295201.1:p.Pro263Gln, XP_047295201.1:p.Pro263Arg, XP_047295201.1:p.Pro263Leu, XP_047295202.1:p.Pro263Gln, XP_047295202.1:p.Pro263Arg, XP_047295202.1:p.Pro263Leu, XP_047295205.1:p.Pro263Gln, XP_047295205.1:p.Pro263Arg, XP_047295205.1:p.Pro263Leu, XP_047295203.1:p.Pro263Gln, XP_047295203.1:p.Pro263Arg, XP_047295203.1:p.Pro263Leu, XP_047295206.1:p.Pro263Gln, XP_047295206.1:p.Pro263Arg, XP_047295206.1:p.Pro263Leu

            6.

            rs1489642068 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C [Show Flanks]
              Chromosome:
              19:10986484 (GRCh38)
              19:11097160 (GRCh37)
              Canonical SPDI:
              NC_000019.10:10986483:G:A,NC_000019.10:10986483:G:C
              Gene:
              SMARCA4 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by cluster
              HGVS:
              NC_000019.10:g.10986484G>A, NC_000019.10:g.10986484G>C, NC_000019.9:g.11097160G>A, NC_000019.9:g.11097160G>C, NG_011556.3:g.30553G>A, NG_011556.3:g.30553G>C, NM_003072.5:c.651G>A, NM_003072.5:c.651G>C, NM_003072.4:c.651G>A, NM_003072.4:c.651G>C, NM_003072.3:c.651G>A, NM_003072.3:c.651G>C, NM_001128847.4:c.651G>A, NM_001128847.4:c.651G>C, NM_001128847.3:c.651G>A, NM_001128847.3:c.651G>C, NM_001128847.2:c.651G>A, NM_001128847.2:c.651G>C, NM_001128847.1:c.651G>A, NM_001128847.1:c.651G>C, NM_001128849.3:c.651G>A, NM_001128849.3:c.651G>C, NM_001128849.2:c.651G>A, NM_001128849.2:c.651G>C, NM_001128849.1:c.651G>A, NM_001128849.1:c.651G>C, NM_001128844.3:c.651G>A, NM_001128844.3:c.651G>C, NM_001128844.2:c.651G>A, NM_001128844.2:c.651G>C, NM_001128844.1:c.651G>A, NM_001128844.1:c.651G>C, NM_001128845.2:c.651G>A, NM_001128845.2:c.651G>C, NM_001128845.1:c.651G>A, NM_001128845.1:c.651G>C, NM_001128846.2:c.651G>A, NM_001128846.2:c.651G>C, NM_001128846.1:c.651G>A, NM_001128846.1:c.651G>C, NM_001128848.2:c.651G>A, NM_001128848.2:c.651G>C, NM_001128848.1:c.651G>A, NM_001128848.1:c.651G>C, NR_164683.1:n.827G>A, NR_164683.1:n.827G>C, NM_001387283.1:c.651G>A, NM_001387283.1:c.651G>C, NM_001411150.1:c.651G>A, NM_001411150.1:c.651G>C, NM_001374457.1:c.651G>A, NM_001374457.1:c.651G>C, XM_006722846.3:c.651G>A, XM_006722846.3:c.651G>C, XM_006722846.2:c.651G>A, XM_006722846.2:c.651G>C, XM_006722846.1:c.651G>A, XM_006722846.1:c.651G>C, XM_011528198.2:c.651G>A, XM_011528198.2:c.651G>C, XM_011528198.1:c.651G>A, XM_011528198.1:c.651G>C, XM_024451658.2:c.651G>A, XM_024451658.2:c.651G>C, XM_024451658.1:c.651G>A, XM_024451658.1:c.651G>C, XM_024451661.2:c.651G>A, XM_024451661.2:c.651G>C, XM_024451661.1:c.651G>A, XM_024451661.1:c.651G>C, XM_024451663.2:c.651G>A, XM_024451663.2:c.651G>C, XM_024451663.1:c.651G>A, XM_024451663.1:c.651G>C, XM_024451667.2:c.651G>A, XM_024451667.2:c.651G>C, XM_024451667.1:c.651G>A, XM_024451667.1:c.651G>C, XM_047439243.1:c.651G>A, XM_047439243.1:c.651G>C, XM_047439248.1:c.651G>A, XM_047439248.1:c.651G>C, XM_047439251.1:c.651G>A, XM_047439251.1:c.651G>C, XM_047439244.1:c.651G>A, XM_047439244.1:c.651G>C, XM_047439245.1:c.651G>A, XM_047439245.1:c.651G>C, XM_047439246.1:c.651G>A, XM_047439246.1:c.651G>C, XM_047439249.1:c.651G>A, XM_047439249.1:c.651G>C, XM_047439247.1:c.651G>A, XM_047439247.1:c.651G>C, XM_047439250.1:c.651G>A, XM_047439250.1:c.651G>C, NP_003063.2:p.Met217Ile, NP_003063.2:p.Met217Ile, NP_001122319.1:p.Met217Ile, NP_001122319.1:p.Met217Ile, NP_001122321.1:p.Met217Ile, NP_001122321.1:p.Met217Ile, NP_001122316.1:p.Met217Ile, NP_001122316.1:p.Met217Ile, NP_001122317.1:p.Met217Ile, NP_001122317.1:p.Met217Ile, NP_001122318.1:p.Met217Ile, NP_001122318.1:p.Met217Ile, NP_001122320.1:p.Met217Ile, NP_001122320.1:p.Met217Ile, NP_001374212.1:p.Met217Ile, NP_001374212.1:p.Met217Ile, NP_001361386.1:p.Met217Ile, NP_001361386.1:p.Met217Ile, XP_006722909.1:p.Met217Ile, XP_006722909.1:p.Met217Ile, XP_011526500.1:p.Met217Ile, XP_011526500.1:p.Met217Ile, XP_024307426.1:p.Met217Ile, XP_024307426.1:p.Met217Ile, XP_024307429.1:p.Met217Ile, XP_024307429.1:p.Met217Ile, XP_024307431.1:p.Met217Ile, XP_024307431.1:p.Met217Ile, XP_024307435.1:p.Met217Ile, XP_024307435.1:p.Met217Ile, XP_047295199.1:p.Met217Ile, XP_047295199.1:p.Met217Ile, XP_047295204.1:p.Met217Ile, XP_047295204.1:p.Met217Ile, XP_047295207.1:p.Met217Ile, XP_047295207.1:p.Met217Ile, XP_047295200.1:p.Met217Ile, XP_047295200.1:p.Met217Ile, XP_047295201.1:p.Met217Ile, XP_047295201.1:p.Met217Ile, XP_047295202.1:p.Met217Ile, XP_047295202.1:p.Met217Ile, XP_047295205.1:p.Met217Ile, XP_047295205.1:p.Met217Ile, XP_047295203.1:p.Met217Ile, XP_047295203.1:p.Met217Ile, XP_047295206.1:p.Met217Ile, XP_047295206.1:p.Met217Ile

              7.

              rs1489615957 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                19:10989319 (GRCh38)
                19:11099995 (GRCh37)
                Canonical SPDI:
                NC_000019.10:10989318:T:C
                Gene:
                SMARCA4 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                C=0.000111/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.10989319T>C, NC_000019.9:g.11099995T>C, NG_011556.3:g.33388T>C, NM_003072.5:c.1121T>C, NM_003072.4:c.1121T>C, NM_003072.3:c.1121T>C, NM_001128847.4:c.1121T>C, NM_001128847.3:c.1121T>C, NM_001128847.2:c.1121T>C, NM_001128847.1:c.1121T>C, NM_001128849.3:c.1121T>C, NM_001128849.2:c.1121T>C, NM_001128849.1:c.1121T>C, NM_001128844.3:c.1121T>C, NM_001128844.2:c.1121T>C, NM_001128844.1:c.1121T>C, NM_001128845.2:c.1121T>C, NM_001128845.1:c.1121T>C, NM_001128846.2:c.1121T>C, NM_001128846.1:c.1121T>C, NM_001128848.2:c.1121T>C, NM_001128848.1:c.1121T>C, NR_164683.1:n.1297T>C, NM_001387283.1:c.1121T>C, NM_001411150.1:c.1121T>C, NM_001374457.1:c.1121T>C, XM_006722846.3:c.1121T>C, XM_006722846.2:c.1121T>C, XM_006722846.1:c.1121T>C, XM_011528198.2:c.1121T>C, XM_011528198.1:c.1121T>C, XM_024451658.2:c.1121T>C, XM_024451658.1:c.1121T>C, XM_024451661.2:c.1121T>C, XM_024451661.1:c.1121T>C, XM_024451663.2:c.1121T>C, XM_024451663.1:c.1121T>C, XM_024451667.2:c.1121T>C, XM_024451667.1:c.1121T>C, XM_047439243.1:c.1121T>C, XM_047439248.1:c.1121T>C, XM_047439251.1:c.1121T>C, XM_047439244.1:c.1121T>C, XM_047439245.1:c.1121T>C, XM_047439246.1:c.1121T>C, XM_047439249.1:c.1121T>C, XM_047439247.1:c.1121T>C, XM_047439250.1:c.1121T>C, NP_003063.2:p.Leu374Pro, NP_001122319.1:p.Leu374Pro, NP_001122321.1:p.Leu374Pro, NP_001122316.1:p.Leu374Pro, NP_001122317.1:p.Leu374Pro, NP_001122318.1:p.Leu374Pro, NP_001122320.1:p.Leu374Pro, NP_001374212.1:p.Leu374Pro, NP_001361386.1:p.Leu374Pro, XP_006722909.1:p.Leu374Pro, XP_011526500.1:p.Leu374Pro, XP_024307426.1:p.Leu374Pro, XP_024307429.1:p.Leu374Pro, XP_024307431.1:p.Leu374Pro, XP_024307435.1:p.Leu374Pro, XP_047295199.1:p.Leu374Pro, XP_047295204.1:p.Leu374Pro, XP_047295207.1:p.Leu374Pro, XP_047295200.1:p.Leu374Pro, XP_047295201.1:p.Leu374Pro, XP_047295202.1:p.Leu374Pro, XP_047295205.1:p.Leu374Pro, XP_047295203.1:p.Leu374Pro, XP_047295206.1:p.Leu374Pro

                8.

                rs1487948112 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  19:11013043 (GRCh38)
                  19:11123719 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:11013042:T:C
                  Gene:
                  SMARCA4 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000019.10:g.11013043T>C, NC_000019.9:g.11123719T>C, NG_011556.3:g.57112T>C, NM_003072.5:c.2369T>C, NM_003072.4:c.2369T>C, NM_003072.3:c.2369T>C, NM_001128847.4:c.2369T>C, NM_001128847.3:c.2369T>C, NM_001128847.2:c.2369T>C, NM_001128847.1:c.2369T>C, NM_001128849.3:c.2369T>C, NM_001128849.2:c.2369T>C, NM_001128849.1:c.2369T>C, NM_001128844.3:c.2369T>C, NM_001128844.2:c.2369T>C, NM_001128844.1:c.2369T>C, NM_001128845.2:c.2369T>C, NM_001128845.1:c.2369T>C, NM_001128846.2:c.2369T>C, NM_001128846.1:c.2369T>C, NM_001128848.2:c.2369T>C, NM_001128848.1:c.2369T>C, NR_164683.1:n.2545T>C, NM_001387283.1:c.2369T>C, NM_001411150.1:c.2369T>C, NM_001374457.1:c.2369T>C, XM_006722846.3:c.2369T>C, XM_006722846.2:c.2369T>C, XM_006722846.1:c.2369T>C, XM_011528198.2:c.2369T>C, XM_011528198.1:c.2369T>C, XM_024451658.2:c.2369T>C, XM_024451658.1:c.2369T>C, XM_024451661.2:c.2369T>C, XM_024451661.1:c.2369T>C, XM_024451663.2:c.2369T>C, XM_024451663.1:c.2369T>C, XM_024451667.2:c.2369T>C, XM_024451667.1:c.2369T>C, XM_047439243.1:c.2369T>C, XM_047439248.1:c.2369T>C, XM_047439251.1:c.2369T>C, XM_047439244.1:c.2369T>C, XM_047439245.1:c.2369T>C, XM_047439246.1:c.2369T>C, XM_047439249.1:c.2369T>C, XM_047439247.1:c.2369T>C, XM_047439250.1:c.2369T>C, NP_003063.2:p.Ile790Thr, NP_001122319.1:p.Ile790Thr, NP_001122321.1:p.Ile790Thr, NP_001122316.1:p.Ile790Thr, NP_001122317.1:p.Ile790Thr, NP_001122318.1:p.Ile790Thr, NP_001122320.1:p.Ile790Thr, NP_001374212.1:p.Ile790Thr, NP_001361386.1:p.Ile790Thr, XP_006722909.1:p.Ile790Thr, XP_011526500.1:p.Ile790Thr, XP_024307426.1:p.Ile790Thr, XP_024307429.1:p.Ile790Thr, XP_024307431.1:p.Ile790Thr, XP_024307435.1:p.Ile790Thr, XP_047295199.1:p.Ile790Thr, XP_047295204.1:p.Ile790Thr, XP_047295207.1:p.Ile790Thr, XP_047295200.1:p.Ile790Thr, XP_047295201.1:p.Ile790Thr, XP_047295202.1:p.Ile790Thr, XP_047295205.1:p.Ile790Thr, XP_047295203.1:p.Ile790Thr, XP_047295206.1:p.Ile790Thr

                  9.

                  rs1487914278 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G,T [Show Flanks]
                    Chromosome:
                    19:11019646 (GRCh38)
                    19:11130322 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:11019645:A:C,NC_000019.10:11019645:A:G,NC_000019.10:11019645:A:T
                    Gene:
                    SMARCA4 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by cluster
                    HGVS:
                    NC_000019.10:g.11019646A>C, NC_000019.10:g.11019646A>G, NC_000019.10:g.11019646A>T, NC_000019.9:g.11130322A>C, NC_000019.9:g.11130322A>G, NC_000019.9:g.11130322A>T, NG_011556.3:g.63715A>C, NG_011556.3:g.63715A>G, NG_011556.3:g.63715A>T, NM_003072.5:c.2561A>C, NM_003072.5:c.2561A>G, NM_003072.5:c.2561A>T, NM_003072.4:c.2561A>C, NM_003072.4:c.2561A>G, NM_003072.4:c.2561A>T, NM_003072.3:c.2561A>C, NM_003072.3:c.2561A>G, NM_003072.3:c.2561A>T, NM_001128847.4:c.2561A>C, NM_001128847.4:c.2561A>G, NM_001128847.4:c.2561A>T, NM_001128847.3:c.2561A>C, NM_001128847.3:c.2561A>G, NM_001128847.3:c.2561A>T, NM_001128847.2:c.2561A>C, NM_001128847.2:c.2561A>G, NM_001128847.2:c.2561A>T, NM_001128847.1:c.2561A>C, NM_001128847.1:c.2561A>G, NM_001128847.1:c.2561A>T, NM_001128849.3:c.2561A>C, NM_001128849.3:c.2561A>G, NM_001128849.3:c.2561A>T, NM_001128849.2:c.2561A>C, NM_001128849.2:c.2561A>G, NM_001128849.2:c.2561A>T, NM_001128849.1:c.2561A>C, NM_001128849.1:c.2561A>G, NM_001128849.1:c.2561A>T, NM_001128844.3:c.2561A>C, NM_001128844.3:c.2561A>G, NM_001128844.3:c.2561A>T, NM_001128844.2:c.2561A>C, NM_001128844.2:c.2561A>G, NM_001128844.2:c.2561A>T, NM_001128844.1:c.2561A>C, NM_001128844.1:c.2561A>G, NM_001128844.1:c.2561A>T, NM_001128845.2:c.2561A>C, NM_001128845.2:c.2561A>G, NM_001128845.2:c.2561A>T, NM_001128845.1:c.2561A>C, NM_001128845.1:c.2561A>G, NM_001128845.1:c.2561A>T, NM_001128846.2:c.2561A>C, NM_001128846.2:c.2561A>G, NM_001128846.2:c.2561A>T, NM_001128846.1:c.2561A>C, NM_001128846.1:c.2561A>G, NM_001128846.1:c.2561A>T, NM_001128848.2:c.2561A>C, NM_001128848.2:c.2561A>G, NM_001128848.2:c.2561A>T, NM_001128848.1:c.2561A>C, NM_001128848.1:c.2561A>G, NM_001128848.1:c.2561A>T, NR_164683.1:n.2737A>C, NR_164683.1:n.2737A>G, NR_164683.1:n.2737A>T, NM_001387283.1:c.2561A>C, NM_001387283.1:c.2561A>G, NM_001387283.1:c.2561A>T, NM_001411150.1:c.2561A>C, NM_001411150.1:c.2561A>G, NM_001411150.1:c.2561A>T, NM_001374457.1:c.2561A>C, NM_001374457.1:c.2561A>G, NM_001374457.1:c.2561A>T, XM_006722846.3:c.2561A>C, XM_006722846.3:c.2561A>G, XM_006722846.3:c.2561A>T, XM_006722846.2:c.2561A>C, XM_006722846.2:c.2561A>G, XM_006722846.2:c.2561A>T, XM_006722846.1:c.2561A>C, XM_006722846.1:c.2561A>G, XM_006722846.1:c.2561A>T, XM_011528198.2:c.2561A>C, XM_011528198.2:c.2561A>G, XM_011528198.2:c.2561A>T, XM_011528198.1:c.2561A>C, XM_011528198.1:c.2561A>G, XM_011528198.1:c.2561A>T, XM_024451658.2:c.2561A>C, XM_024451658.2:c.2561A>G, XM_024451658.2:c.2561A>T, XM_024451658.1:c.2561A>C, XM_024451658.1:c.2561A>G, XM_024451658.1:c.2561A>T, XM_024451661.2:c.2561A>C, XM_024451661.2:c.2561A>G, XM_024451661.2:c.2561A>T, XM_024451661.1:c.2561A>C, XM_024451661.1:c.2561A>G, XM_024451661.1:c.2561A>T, XM_024451663.2:c.2561A>C, XM_024451663.2:c.2561A>G, XM_024451663.2:c.2561A>T, XM_024451663.1:c.2561A>C, XM_024451663.1:c.2561A>G, XM_024451663.1:c.2561A>T, XM_024451667.2:c.2561A>C, XM_024451667.2:c.2561A>G, XM_024451667.2:c.2561A>T, XM_024451667.1:c.2561A>C, XM_024451667.1:c.2561A>G, XM_024451667.1:c.2561A>T, XM_047439243.1:c.2561A>C, XM_047439243.1:c.2561A>G, XM_047439243.1:c.2561A>T, XM_047439248.1:c.2561A>C, XM_047439248.1:c.2561A>G, XM_047439248.1:c.2561A>T, XM_047439251.1:c.2561A>C, XM_047439251.1:c.2561A>G, XM_047439251.1:c.2561A>T, XM_047439244.1:c.2561A>C, XM_047439244.1:c.2561A>G, XM_047439244.1:c.2561A>T, XM_047439245.1:c.2561A>C, XM_047439245.1:c.2561A>G, XM_047439245.1:c.2561A>T, XM_047439246.1:c.2561A>C, XM_047439246.1:c.2561A>G, XM_047439246.1:c.2561A>T, XM_047439249.1:c.2561A>C, XM_047439249.1:c.2561A>G, XM_047439249.1:c.2561A>T, XM_047439247.1:c.2561A>C, XM_047439247.1:c.2561A>G, XM_047439247.1:c.2561A>T, XM_047439250.1:c.2561A>C, XM_047439250.1:c.2561A>G, XM_047439250.1:c.2561A>T, NP_003063.2:p.Asn854Thr, NP_003063.2:p.Asn854Ser, NP_003063.2:p.Asn854Ile, NP_001122319.1:p.Asn854Thr, NP_001122319.1:p.Asn854Ser, NP_001122319.1:p.Asn854Ile, NP_001122321.1:p.Asn854Thr, NP_001122321.1:p.Asn854Ser, NP_001122321.1:p.Asn854Ile, NP_001122316.1:p.Asn854Thr, NP_001122316.1:p.Asn854Ser, NP_001122316.1:p.Asn854Ile, NP_001122317.1:p.Asn854Thr, NP_001122317.1:p.Asn854Ser, NP_001122317.1:p.Asn854Ile, NP_001122318.1:p.Asn854Thr, NP_001122318.1:p.Asn854Ser, NP_001122318.1:p.Asn854Ile, NP_001122320.1:p.Asn854Thr, NP_001122320.1:p.Asn854Ser, NP_001122320.1:p.Asn854Ile, NP_001374212.1:p.Asn854Thr, NP_001374212.1:p.Asn854Ser, NP_001374212.1:p.Asn854Ile, NP_001361386.1:p.Asn854Thr, NP_001361386.1:p.Asn854Ser, NP_001361386.1:p.Asn854Ile, XP_006722909.1:p.Asn854Thr, XP_006722909.1:p.Asn854Ser, XP_006722909.1:p.Asn854Ile, XP_011526500.1:p.Asn854Thr, XP_011526500.1:p.Asn854Ser, XP_011526500.1:p.Asn854Ile, XP_024307426.1:p.Asn854Thr, XP_024307426.1:p.Asn854Ser, XP_024307426.1:p.Asn854Ile, XP_024307429.1:p.Asn854Thr, XP_024307429.1:p.Asn854Ser, XP_024307429.1:p.Asn854Ile, XP_024307431.1:p.Asn854Thr, XP_024307431.1:p.Asn854Ser, XP_024307431.1:p.Asn854Ile, XP_024307435.1:p.Asn854Thr, XP_024307435.1:p.Asn854Ser, XP_024307435.1:p.Asn854Ile, XP_047295199.1:p.Asn854Thr, XP_047295199.1:p.Asn854Ser, XP_047295199.1:p.Asn854Ile, XP_047295204.1:p.Asn854Thr, XP_047295204.1:p.Asn854Ser, XP_047295204.1:p.Asn854Ile, XP_047295207.1:p.Asn854Thr, XP_047295207.1:p.Asn854Ser, XP_047295207.1:p.Asn854Ile, XP_047295200.1:p.Asn854Thr, XP_047295200.1:p.Asn854Ser, XP_047295200.1:p.Asn854Ile, XP_047295201.1:p.Asn854Thr, XP_047295201.1:p.Asn854Ser, XP_047295201.1:p.Asn854Ile, XP_047295202.1:p.Asn854Thr, XP_047295202.1:p.Asn854Ser, XP_047295202.1:p.Asn854Ile, XP_047295205.1:p.Asn854Thr, XP_047295205.1:p.Asn854Ser, XP_047295205.1:p.Asn854Ile, XP_047295203.1:p.Asn854Thr, XP_047295203.1:p.Asn854Ser, XP_047295203.1:p.Asn854Ile, XP_047295206.1:p.Asn854Thr, XP_047295206.1:p.Asn854Ser, XP_047295206.1:p.Asn854Ile

                    10.

                    rs1486794288 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C,T [Show Flanks]
                      Chromosome:
                      19:11007986 (GRCh38)
                      19:11118662 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:11007985:G:A,NC_000019.10:11007985:G:C,NC_000019.10:11007985:G:T
                      Gene:
                      SMARCA4 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000004/1 (TOPMED)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.11007986G>A, NC_000019.10:g.11007986G>C, NC_000019.10:g.11007986G>T, NC_000019.9:g.11118662G>A, NC_000019.9:g.11118662G>C, NC_000019.9:g.11118662G>T, NG_011556.3:g.52055G>A, NG_011556.3:g.52055G>C, NG_011556.3:g.52055G>T, NM_003072.5:c.2086G>A, NM_003072.5:c.2086G>C, NM_003072.5:c.2086G>T, NM_003072.4:c.2086G>A, NM_003072.4:c.2086G>C, NM_003072.4:c.2086G>T, NM_003072.3:c.2086G>A, NM_003072.3:c.2086G>C, NM_003072.3:c.2086G>T, NM_001128847.4:c.2086G>A, NM_001128847.4:c.2086G>C, NM_001128847.4:c.2086G>T, NM_001128847.3:c.2086G>A, NM_001128847.3:c.2086G>C, NM_001128847.3:c.2086G>T, NM_001128847.2:c.2086G>A, NM_001128847.2:c.2086G>C, NM_001128847.2:c.2086G>T, NM_001128847.1:c.2086G>A, NM_001128847.1:c.2086G>C, NM_001128847.1:c.2086G>T, NM_001128849.3:c.2086G>A, NM_001128849.3:c.2086G>C, NM_001128849.3:c.2086G>T, NM_001128849.2:c.2086G>A, NM_001128849.2:c.2086G>C, NM_001128849.2:c.2086G>T, NM_001128849.1:c.2086G>A, NM_001128849.1:c.2086G>C, NM_001128849.1:c.2086G>T, NM_001128844.3:c.2086G>A, NM_001128844.3:c.2086G>C, NM_001128844.3:c.2086G>T, NM_001128844.2:c.2086G>A, NM_001128844.2:c.2086G>C, NM_001128844.2:c.2086G>T, NM_001128844.1:c.2086G>A, NM_001128844.1:c.2086G>C, NM_001128844.1:c.2086G>T, NM_001128845.2:c.2086G>A, NM_001128845.2:c.2086G>C, NM_001128845.2:c.2086G>T, NM_001128845.1:c.2086G>A, NM_001128845.1:c.2086G>C, NM_001128845.1:c.2086G>T, NM_001128846.2:c.2086G>A, NM_001128846.2:c.2086G>C, NM_001128846.2:c.2086G>T, NM_001128846.1:c.2086G>A, NM_001128846.1:c.2086G>C, NM_001128846.1:c.2086G>T, NM_001128848.2:c.2086G>A, NM_001128848.2:c.2086G>C, NM_001128848.2:c.2086G>T, NM_001128848.1:c.2086G>A, NM_001128848.1:c.2086G>C, NM_001128848.1:c.2086G>T, NR_164683.1:n.2262G>A, NR_164683.1:n.2262G>C, NR_164683.1:n.2262G>T, NM_001387283.1:c.2086G>A, NM_001387283.1:c.2086G>C, NM_001387283.1:c.2086G>T, NM_001411150.1:c.2086G>A, NM_001411150.1:c.2086G>C, NM_001411150.1:c.2086G>T, NM_001374457.1:c.2086G>A, NM_001374457.1:c.2086G>C, NM_001374457.1:c.2086G>T, XM_006722846.3:c.2086G>A, XM_006722846.3:c.2086G>C, XM_006722846.3:c.2086G>T, XM_006722846.2:c.2086G>A, XM_006722846.2:c.2086G>C, XM_006722846.2:c.2086G>T, XM_006722846.1:c.2086G>A, XM_006722846.1:c.2086G>C, XM_006722846.1:c.2086G>T, XM_011528198.2:c.2086G>A, XM_011528198.2:c.2086G>C, XM_011528198.2:c.2086G>T, XM_011528198.1:c.2086G>A, XM_011528198.1:c.2086G>C, XM_011528198.1:c.2086G>T, XM_024451658.2:c.2086G>A, XM_024451658.2:c.2086G>C, XM_024451658.2:c.2086G>T, XM_024451658.1:c.2086G>A, XM_024451658.1:c.2086G>C, XM_024451658.1:c.2086G>T, XM_024451661.2:c.2086G>A, XM_024451661.2:c.2086G>C, XM_024451661.2:c.2086G>T, XM_024451661.1:c.2086G>A, XM_024451661.1:c.2086G>C, XM_024451661.1:c.2086G>T, XM_024451663.2:c.2086G>A, XM_024451663.2:c.2086G>C, XM_024451663.2:c.2086G>T, XM_024451663.1:c.2086G>A, XM_024451663.1:c.2086G>C, XM_024451663.1:c.2086G>T, XM_024451667.2:c.2086G>A, XM_024451667.2:c.2086G>C, XM_024451667.2:c.2086G>T, XM_024451667.1:c.2086G>A, XM_024451667.1:c.2086G>C, XM_024451667.1:c.2086G>T, XM_047439243.1:c.2086G>A, XM_047439243.1:c.2086G>C, XM_047439243.1:c.2086G>T, XM_047439248.1:c.2086G>A, XM_047439248.1:c.2086G>C, XM_047439248.1:c.2086G>T, XM_047439251.1:c.2086G>A, XM_047439251.1:c.2086G>C, XM_047439251.1:c.2086G>T, XM_047439244.1:c.2086G>A, XM_047439244.1:c.2086G>C, XM_047439244.1:c.2086G>T, XM_047439245.1:c.2086G>A, XM_047439245.1:c.2086G>C, XM_047439245.1:c.2086G>T, XM_047439246.1:c.2086G>A, XM_047439246.1:c.2086G>C, XM_047439246.1:c.2086G>T, XM_047439249.1:c.2086G>A, XM_047439249.1:c.2086G>C, XM_047439249.1:c.2086G>T, XM_047439247.1:c.2086G>A, XM_047439247.1:c.2086G>C, XM_047439247.1:c.2086G>T, XM_047439250.1:c.2086G>A, XM_047439250.1:c.2086G>C, XM_047439250.1:c.2086G>T, NP_003063.2:p.Asp696Asn, NP_003063.2:p.Asp696His, NP_003063.2:p.Asp696Tyr, NP_001122319.1:p.Asp696Asn, NP_001122319.1:p.Asp696His, NP_001122319.1:p.Asp696Tyr, NP_001122321.1:p.Asp696Asn, NP_001122321.1:p.Asp696His, NP_001122321.1:p.Asp696Tyr, NP_001122316.1:p.Asp696Asn, NP_001122316.1:p.Asp696His, NP_001122316.1:p.Asp696Tyr, NP_001122317.1:p.Asp696Asn, NP_001122317.1:p.Asp696His, NP_001122317.1:p.Asp696Tyr, NP_001122318.1:p.Asp696Asn, NP_001122318.1:p.Asp696His, NP_001122318.1:p.Asp696Tyr, NP_001122320.1:p.Asp696Asn, NP_001122320.1:p.Asp696His, NP_001122320.1:p.Asp696Tyr, NP_001374212.1:p.Asp696Asn, NP_001374212.1:p.Asp696His, NP_001374212.1:p.Asp696Tyr, NP_001361386.1:p.Asp696Asn, NP_001361386.1:p.Asp696His, NP_001361386.1:p.Asp696Tyr, XP_006722909.1:p.Asp696Asn, XP_006722909.1:p.Asp696His, XP_006722909.1:p.Asp696Tyr, XP_011526500.1:p.Asp696Asn, XP_011526500.1:p.Asp696His, XP_011526500.1:p.Asp696Tyr, XP_024307426.1:p.Asp696Asn, XP_024307426.1:p.Asp696His, XP_024307426.1:p.Asp696Tyr, XP_024307429.1:p.Asp696Asn, XP_024307429.1:p.Asp696His, XP_024307429.1:p.Asp696Tyr, XP_024307431.1:p.Asp696Asn, XP_024307431.1:p.Asp696His, XP_024307431.1:p.Asp696Tyr, XP_024307435.1:p.Asp696Asn, XP_024307435.1:p.Asp696His, XP_024307435.1:p.Asp696Tyr, XP_047295199.1:p.Asp696Asn, XP_047295199.1:p.Asp696His, XP_047295199.1:p.Asp696Tyr, XP_047295204.1:p.Asp696Asn, XP_047295204.1:p.Asp696His, XP_047295204.1:p.Asp696Tyr, XP_047295207.1:p.Asp696Asn, XP_047295207.1:p.Asp696His, XP_047295207.1:p.Asp696Tyr, XP_047295200.1:p.Asp696Asn, XP_047295200.1:p.Asp696His, XP_047295200.1:p.Asp696Tyr, XP_047295201.1:p.Asp696Asn, XP_047295201.1:p.Asp696His, XP_047295201.1:p.Asp696Tyr, XP_047295202.1:p.Asp696Asn, XP_047295202.1:p.Asp696His, XP_047295202.1:p.Asp696Tyr, XP_047295205.1:p.Asp696Asn, XP_047295205.1:p.Asp696His, XP_047295205.1:p.Asp696Tyr, XP_047295203.1:p.Asp696Asn, XP_047295203.1:p.Asp696His, XP_047295203.1:p.Asp696Tyr, XP_047295206.1:p.Asp696Asn, XP_047295206.1:p.Asp696His, XP_047295206.1:p.Asp696Tyr

                      11.

                      rs1485676007 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G,T [Show Flanks]
                        Chromosome:
                        19:11060081 (GRCh38)
                        19:11170757 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:11060080:A:C,NC_000019.10:11060080:A:G,NC_000019.10:11060080:A:T
                        Gene:
                        SMARCA4 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.11060081A>C, NC_000019.10:g.11060081A>G, NC_000019.10:g.11060081A>T, NC_000019.9:g.11170757A>C, NC_000019.9:g.11170757A>G, NC_000019.9:g.11170757A>T, NG_011556.3:g.104150A>C, NG_011556.3:g.104150A>G, NG_011556.3:g.104150A>T, NM_003072.5:c.4805A>C, NM_003072.5:c.4805A>G, NM_003072.5:c.4805A>T, NM_003072.4:c.4805A>C, NM_003072.4:c.4805A>G, NM_003072.4:c.4805A>T, NM_003072.3:c.4805A>C, NM_003072.3:c.4805A>G, NM_003072.3:c.4805A>T, NM_001128847.4:c.4706A>C, NM_001128847.4:c.4706A>G, NM_001128847.4:c.4706A>T, NM_001128847.3:c.4706A>C, NM_001128847.3:c.4706A>G, NM_001128847.3:c.4706A>T, NM_001128847.2:c.4706A>C, NM_001128847.2:c.4706A>G, NM_001128847.2:c.4706A>T, NM_001128847.1:c.4706A>C, NM_001128847.1:c.4706A>G, NM_001128847.1:c.4706A>T, NM_001128849.3:c.4901A>C, NM_001128849.3:c.4901A>G, NM_001128849.3:c.4901A>T, NM_001128849.2:c.4901A>C, NM_001128849.2:c.4901A>G, NM_001128849.2:c.4901A>T, NM_001128849.1:c.4901A>C, NM_001128849.1:c.4901A>G, NM_001128849.1:c.4901A>T, NM_001128844.3:c.4805A>C, NM_001128844.3:c.4805A>G, NM_001128844.3:c.4805A>T, NM_001128844.2:c.4805A>C, NM_001128844.2:c.4805A>G, NM_001128844.2:c.4805A>T, NM_001128844.1:c.4805A>C, NM_001128844.1:c.4805A>G, NM_001128844.1:c.4805A>T, NM_001128845.2:c.4715A>C, NM_001128845.2:c.4715A>G, NM_001128845.2:c.4715A>T, NM_001128845.1:c.4715A>C, NM_001128845.1:c.4715A>G, NM_001128845.1:c.4715A>T, NM_001128846.2:c.4712A>C, NM_001128846.2:c.4712A>G, NM_001128846.2:c.4712A>T, NM_001128846.1:c.4712A>C, NM_001128846.1:c.4712A>G, NM_001128846.1:c.4712A>T, NM_001128848.2:c.4703A>C, NM_001128848.2:c.4703A>G, NM_001128848.2:c.4703A>T, NM_001128848.1:c.4703A>C, NM_001128848.1:c.4703A>G, NM_001128848.1:c.4703A>T, NR_164683.1:n.5192A>C, NR_164683.1:n.5192A>G, NR_164683.1:n.5192A>T, NM_001387283.1:c.4901A>C, NM_001387283.1:c.4901A>G, NM_001387283.1:c.4901A>T, NM_001411150.1:c.4802A>C, NM_001411150.1:c.4802A>G, NM_001411150.1:c.4802A>T, NM_001374457.1:c.4706A>C, NM_001374457.1:c.4706A>G, NM_001374457.1:c.4706A>T, XM_006722846.3:c.4901A>C, XM_006722846.3:c.4901A>G, XM_006722846.3:c.4901A>T, XM_006722846.2:c.4901A>C, XM_006722846.2:c.4901A>G, XM_006722846.2:c.4901A>T, XM_006722846.1:c.4901A>C, XM_006722846.1:c.4901A>G, XM_006722846.1:c.4901A>T, XM_011528198.2:c.4901A>C, XM_011528198.2:c.4901A>G, XM_011528198.2:c.4901A>T, XM_011528198.1:c.4901A>C, XM_011528198.1:c.4901A>G, XM_011528198.1:c.4901A>T, XM_024451658.2:c.4901A>C, XM_024451658.2:c.4901A>G, XM_024451658.2:c.4901A>T, XM_024451658.1:c.4901A>C, XM_024451658.1:c.4901A>G, XM_024451658.1:c.4901A>T, XM_024451661.2:c.4802A>C, XM_024451661.2:c.4802A>G, XM_024451661.2:c.4802A>T, XM_024451661.1:c.4802A>C, XM_024451661.1:c.4802A>G, XM_024451661.1:c.4802A>T, XM_024451663.2:c.4799A>C, XM_024451663.2:c.4799A>G, XM_024451663.2:c.4799A>T, XM_024451663.1:c.4799A>C, XM_024451663.1:c.4799A>G, XM_024451663.1:c.4799A>T, XM_024451667.2:c.4703A>C, XM_024451667.2:c.4703A>G, XM_024451667.2:c.4703A>T, XM_024451667.1:c.4703A>C, XM_024451667.1:c.4703A>G, XM_024451667.1:c.4703A>T, XM_047439243.1:c.4901A>C, XM_047439243.1:c.4901A>G, XM_047439243.1:c.4901A>T, XM_047439248.1:c.4706A>C, XM_047439248.1:c.4706A>G, XM_047439248.1:c.4706A>T, XM_047439251.1:c.4703A>C, XM_047439251.1:c.4703A>G, XM_047439251.1:c.4703A>T, XM_047439244.1:c.4805A>C, XM_047439244.1:c.4805A>G, XM_047439244.1:c.4805A>T, XM_047439245.1:c.4802A>C, XM_047439245.1:c.4802A>G, XM_047439245.1:c.4802A>T, XM_047439246.1:c.4799A>C, XM_047439246.1:c.4799A>G, XM_047439246.1:c.4799A>T, XM_047439249.1:c.4703A>C, XM_047439249.1:c.4703A>G, XM_047439249.1:c.4703A>T, XM_047439247.1:c.4706A>C, XM_047439247.1:c.4706A>G, XM_047439247.1:c.4706A>T, XM_047439250.1:c.4703A>C, XM_047439250.1:c.4703A>G, XM_047439250.1:c.4703A>T, NP_003063.2:p.Lys1602Thr, NP_003063.2:p.Lys1602Arg, NP_003063.2:p.Lys1602Met, NP_001122319.1:p.Lys1569Thr, NP_001122319.1:p.Lys1569Arg, NP_001122319.1:p.Lys1569Met, NP_001122321.1:p.Lys1634Thr, NP_001122321.1:p.Lys1634Arg, NP_001122321.1:p.Lys1634Met, NP_001122316.1:p.Lys1602Thr, NP_001122316.1:p.Lys1602Arg, NP_001122316.1:p.Lys1602Met, NP_001122317.1:p.Lys1572Thr, NP_001122317.1:p.Lys1572Arg, NP_001122317.1:p.Lys1572Met, NP_001122318.1:p.Lys1571Thr, NP_001122318.1:p.Lys1571Arg, NP_001122318.1:p.Lys1571Met, NP_001122320.1:p.Lys1568Thr, NP_001122320.1:p.Lys1568Arg, NP_001122320.1:p.Lys1568Met, NP_001374212.1:p.Lys1634Thr, NP_001374212.1:p.Lys1634Arg, NP_001374212.1:p.Lys1634Met, NP_001361386.1:p.Lys1569Thr, NP_001361386.1:p.Lys1569Arg, NP_001361386.1:p.Lys1569Met, XP_006722909.1:p.Lys1634Thr, XP_006722909.1:p.Lys1634Arg, XP_006722909.1:p.Lys1634Met, XP_011526500.1:p.Lys1634Thr, XP_011526500.1:p.Lys1634Arg, XP_011526500.1:p.Lys1634Met, XP_024307426.1:p.Lys1634Thr, XP_024307426.1:p.Lys1634Arg, XP_024307426.1:p.Lys1634Met, XP_024307429.1:p.Lys1601Thr, XP_024307429.1:p.Lys1601Arg, XP_024307429.1:p.Lys1601Met, XP_024307431.1:p.Lys1600Thr, XP_024307431.1:p.Lys1600Arg, XP_024307431.1:p.Lys1600Met, XP_024307435.1:p.Lys1568Thr, XP_024307435.1:p.Lys1568Arg, XP_024307435.1:p.Lys1568Met, XP_047295199.1:p.Lys1634Thr, XP_047295199.1:p.Lys1634Arg, XP_047295199.1:p.Lys1634Met, XP_047295204.1:p.Lys1569Thr, XP_047295204.1:p.Lys1569Arg, XP_047295204.1:p.Lys1569Met, XP_047295207.1:p.Lys1568Thr, XP_047295207.1:p.Lys1568Arg, XP_047295207.1:p.Lys1568Met, XP_047295200.1:p.Lys1602Thr, XP_047295200.1:p.Lys1602Arg, XP_047295200.1:p.Lys1602Met, XP_047295201.1:p.Lys1601Thr, XP_047295201.1:p.Lys1601Arg, XP_047295201.1:p.Lys1601Met, XP_047295202.1:p.Lys1600Thr, XP_047295202.1:p.Lys1600Arg, XP_047295202.1:p.Lys1600Met, XP_047295205.1:p.Lys1568Thr, XP_047295205.1:p.Lys1568Arg, XP_047295205.1:p.Lys1568Met, XP_047295203.1:p.Lys1569Thr, XP_047295203.1:p.Lys1569Arg, XP_047295203.1:p.Lys1569Met, XP_047295206.1:p.Lys1568Thr, XP_047295206.1:p.Lys1568Arg, XP_047295206.1:p.Lys1568Met

                        12.

                        rs1484876512 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          19:10987829 (GRCh38)
                          19:11098505 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:10987828:C:A,NC_000019.10:10987828:C:T
                          Gene:
                          SMARCA4 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                          Clinical significance:
                          likely-benign
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000019.10:g.10987829C>A, NC_000019.10:g.10987829C>T, NC_000019.9:g.11098505C>A, NC_000019.9:g.11098505C>T, NG_011556.3:g.31898C>A, NG_011556.3:g.31898C>T, NM_003072.5:c.1023C>A, NM_003072.5:c.1023C>T, NM_003072.4:c.1023C>A, NM_003072.4:c.1023C>T, NM_003072.3:c.1023C>A, NM_003072.3:c.1023C>T, NM_001128847.4:c.1023C>A, NM_001128847.4:c.1023C>T, NM_001128847.3:c.1023C>A, NM_001128847.3:c.1023C>T, NM_001128847.2:c.1023C>A, NM_001128847.2:c.1023C>T, NM_001128847.1:c.1023C>A, NM_001128847.1:c.1023C>T, NM_001128849.3:c.1023C>A, NM_001128849.3:c.1023C>T, NM_001128849.2:c.1023C>A, NM_001128849.2:c.1023C>T, NM_001128849.1:c.1023C>A, NM_001128849.1:c.1023C>T, NM_001128844.3:c.1023C>A, NM_001128844.3:c.1023C>T, NM_001128844.2:c.1023C>A, NM_001128844.2:c.1023C>T, NM_001128844.1:c.1023C>A, NM_001128844.1:c.1023C>T, NM_001128845.2:c.1023C>A, NM_001128845.2:c.1023C>T, NM_001128845.1:c.1023C>A, NM_001128845.1:c.1023C>T, NM_001128846.2:c.1023C>A, NM_001128846.2:c.1023C>T, NM_001128846.1:c.1023C>A, NM_001128846.1:c.1023C>T, NM_001128848.2:c.1023C>A, NM_001128848.2:c.1023C>T, NM_001128848.1:c.1023C>A, NM_001128848.1:c.1023C>T, NR_164683.1:n.1199C>A, NR_164683.1:n.1199C>T, NM_001387283.1:c.1023C>A, NM_001387283.1:c.1023C>T, NM_001411150.1:c.1023C>A, NM_001411150.1:c.1023C>T, NM_001374457.1:c.1023C>A, NM_001374457.1:c.1023C>T, XM_006722846.3:c.1023C>A, XM_006722846.3:c.1023C>T, XM_006722846.2:c.1023C>A, XM_006722846.2:c.1023C>T, XM_006722846.1:c.1023C>A, XM_006722846.1:c.1023C>T, XM_011528198.2:c.1023C>A, XM_011528198.2:c.1023C>T, XM_011528198.1:c.1023C>A, XM_011528198.1:c.1023C>T, XM_024451658.2:c.1023C>A, XM_024451658.2:c.1023C>T, XM_024451658.1:c.1023C>A, XM_024451658.1:c.1023C>T, XM_024451661.2:c.1023C>A, XM_024451661.2:c.1023C>T, XM_024451661.1:c.1023C>A, XM_024451661.1:c.1023C>T, XM_024451663.2:c.1023C>A, XM_024451663.2:c.1023C>T, XM_024451663.1:c.1023C>A, XM_024451663.1:c.1023C>T, XM_024451667.2:c.1023C>A, XM_024451667.2:c.1023C>T, XM_024451667.1:c.1023C>A, XM_024451667.1:c.1023C>T, XM_047439243.1:c.1023C>A, XM_047439243.1:c.1023C>T, XM_047439248.1:c.1023C>A, XM_047439248.1:c.1023C>T, XM_047439251.1:c.1023C>A, XM_047439251.1:c.1023C>T, XM_047439244.1:c.1023C>A, XM_047439244.1:c.1023C>T, XM_047439245.1:c.1023C>A, XM_047439245.1:c.1023C>T, XM_047439246.1:c.1023C>A, XM_047439246.1:c.1023C>T, XM_047439249.1:c.1023C>A, XM_047439249.1:c.1023C>T, XM_047439247.1:c.1023C>A, XM_047439247.1:c.1023C>T, XM_047439250.1:c.1023C>A, XM_047439250.1:c.1023C>T

                          13.

                          rs1484835507 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A,C [Show Flanks]
                            Chromosome:
                            19:11060078 (GRCh38)
                            19:11170754 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:11060077:G:A,NC_000019.10:11060077:G:C
                            Gene:
                            SMARCA4 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000006/1 (GnomAD_exomes)
                            A=0.000011/3 (TOPMED)
                            A=0.000071/2 (TOMMO)
                            HGVS:
                            NC_000019.10:g.11060078G>A, NC_000019.10:g.11060078G>C, NC_000019.9:g.11170754G>A, NC_000019.9:g.11170754G>C, NG_011556.3:g.104147G>A, NG_011556.3:g.104147G>C, NM_003072.5:c.4802G>A, NM_003072.5:c.4802G>C, NM_003072.4:c.4802G>A, NM_003072.4:c.4802G>C, NM_003072.3:c.4802G>A, NM_003072.3:c.4802G>C, NM_001128847.4:c.4703G>A, NM_001128847.4:c.4703G>C, NM_001128847.3:c.4703G>A, NM_001128847.3:c.4703G>C, NM_001128847.2:c.4703G>A, NM_001128847.2:c.4703G>C, NM_001128847.1:c.4703G>A, NM_001128847.1:c.4703G>C, NM_001128849.3:c.4898G>A, NM_001128849.3:c.4898G>C, NM_001128849.2:c.4898G>A, NM_001128849.2:c.4898G>C, NM_001128849.1:c.4898G>A, NM_001128849.1:c.4898G>C, NM_001128844.3:c.4802G>A, NM_001128844.3:c.4802G>C, NM_001128844.2:c.4802G>A, NM_001128844.2:c.4802G>C, NM_001128844.1:c.4802G>A, NM_001128844.1:c.4802G>C, NM_001128845.2:c.4712G>A, NM_001128845.2:c.4712G>C, NM_001128845.1:c.4712G>A, NM_001128845.1:c.4712G>C, NM_001128846.2:c.4709G>A, NM_001128846.2:c.4709G>C, NM_001128846.1:c.4709G>A, NM_001128846.1:c.4709G>C, NM_001128848.2:c.4700G>A, NM_001128848.2:c.4700G>C, NM_001128848.1:c.4700G>A, NM_001128848.1:c.4700G>C, NR_164683.1:n.5189G>A, NR_164683.1:n.5189G>C, NM_001387283.1:c.4898G>A, NM_001387283.1:c.4898G>C, NM_001411150.1:c.4799G>A, NM_001411150.1:c.4799G>C, NM_001374457.1:c.4703G>A, NM_001374457.1:c.4703G>C, XM_006722846.3:c.4898G>A, XM_006722846.3:c.4898G>C, XM_006722846.2:c.4898G>A, XM_006722846.2:c.4898G>C, XM_006722846.1:c.4898G>A, XM_006722846.1:c.4898G>C, XM_011528198.2:c.4898G>A, XM_011528198.2:c.4898G>C, XM_011528198.1:c.4898G>A, XM_011528198.1:c.4898G>C, XM_024451658.2:c.4898G>A, XM_024451658.2:c.4898G>C, XM_024451658.1:c.4898G>A, XM_024451658.1:c.4898G>C, XM_024451661.2:c.4799G>A, XM_024451661.2:c.4799G>C, XM_024451661.1:c.4799G>A, XM_024451661.1:c.4799G>C, XM_024451663.2:c.4796G>A, XM_024451663.2:c.4796G>C, XM_024451663.1:c.4796G>A, XM_024451663.1:c.4796G>C, XM_024451667.2:c.4700G>A, XM_024451667.2:c.4700G>C, XM_024451667.1:c.4700G>A, XM_024451667.1:c.4700G>C, XM_047439243.1:c.4898G>A, XM_047439243.1:c.4898G>C, XM_047439248.1:c.4703G>A, XM_047439248.1:c.4703G>C, XM_047439251.1:c.4700G>A, XM_047439251.1:c.4700G>C, XM_047439244.1:c.4802G>A, XM_047439244.1:c.4802G>C, XM_047439245.1:c.4799G>A, XM_047439245.1:c.4799G>C, XM_047439246.1:c.4796G>A, XM_047439246.1:c.4796G>C, XM_047439249.1:c.4700G>A, XM_047439249.1:c.4700G>C, XM_047439247.1:c.4703G>A, XM_047439247.1:c.4703G>C, XM_047439250.1:c.4700G>A, XM_047439250.1:c.4700G>C, NP_003063.2:p.Arg1601Gln, NP_003063.2:p.Arg1601Pro, NP_001122319.1:p.Arg1568Gln, NP_001122319.1:p.Arg1568Pro, NP_001122321.1:p.Arg1633Gln, NP_001122321.1:p.Arg1633Pro, NP_001122316.1:p.Arg1601Gln, NP_001122316.1:p.Arg1601Pro, NP_001122317.1:p.Arg1571Gln, NP_001122317.1:p.Arg1571Pro, NP_001122318.1:p.Arg1570Gln, NP_001122318.1:p.Arg1570Pro, NP_001122320.1:p.Arg1567Gln, NP_001122320.1:p.Arg1567Pro, NP_001374212.1:p.Arg1633Gln, NP_001374212.1:p.Arg1633Pro, NP_001361386.1:p.Arg1568Gln, NP_001361386.1:p.Arg1568Pro, XP_006722909.1:p.Arg1633Gln, XP_006722909.1:p.Arg1633Pro, XP_011526500.1:p.Arg1633Gln, XP_011526500.1:p.Arg1633Pro, XP_024307426.1:p.Arg1633Gln, XP_024307426.1:p.Arg1633Pro, XP_024307429.1:p.Arg1600Gln, XP_024307429.1:p.Arg1600Pro, XP_024307431.1:p.Arg1599Gln, XP_024307431.1:p.Arg1599Pro, XP_024307435.1:p.Arg1567Gln, XP_024307435.1:p.Arg1567Pro, XP_047295199.1:p.Arg1633Gln, XP_047295199.1:p.Arg1633Pro, XP_047295204.1:p.Arg1568Gln, XP_047295204.1:p.Arg1568Pro, XP_047295207.1:p.Arg1567Gln, XP_047295207.1:p.Arg1567Pro, XP_047295200.1:p.Arg1601Gln, XP_047295200.1:p.Arg1601Pro, XP_047295201.1:p.Arg1600Gln, XP_047295201.1:p.Arg1600Pro, XP_047295202.1:p.Arg1599Gln, XP_047295202.1:p.Arg1599Pro, XP_047295205.1:p.Arg1567Gln, XP_047295205.1:p.Arg1567Pro, XP_047295203.1:p.Arg1568Gln, XP_047295203.1:p.Arg1568Pro, XP_047295206.1:p.Arg1567Gln, XP_047295206.1:p.Arg1567Pro

                            14.

                            rs1484395538 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAG>- [Show Flanks]
                              Chromosome:
                              19:10996510 (GRCh38)
                              19:11107186 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:10996507:AGAAG:AG
                              Gene:
                              SMARCA4 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,inframe_deletion,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AG=0./0 (ALFA)
                              -=0.000004/1 (GnomAD_exomes)
                              -=0.000021/3 (GnomAD)
                              -=0.000068/18 (TOPMED)
                              HGVS:
                              NC_000019.10:g.10996510_10996512del, NC_000019.9:g.11107186_11107188del, NG_011556.3:g.40579_40581del, NM_003072.5:c.1778_1780del, NM_003072.4:c.1778_1780del, NM_003072.3:c.1778_1780del, NM_001128847.4:c.1778_1780del, NM_001128847.3:c.1778_1780del, NM_001128847.2:c.1778_1780del, NM_001128847.1:c.1778_1780del, NM_001128849.3:c.1778_1780del, NM_001128849.2:c.1778_1780del, NM_001128849.1:c.1778_1780del, NM_001128844.3:c.1778_1780del, NM_001128844.2:c.1778_1780del, NM_001128844.1:c.1778_1780del, NM_001128845.2:c.1778_1780del, NM_001128845.1:c.1778_1780del, NM_001128846.2:c.1778_1780del, NM_001128846.1:c.1778_1780del, NM_001128848.2:c.1778_1780del, NM_001128848.1:c.1778_1780del, NR_164683.1:n.1954_1956del, NM_001387283.1:c.1778_1780del, NM_001411150.1:c.1778_1780del, NM_001374457.1:c.1778_1780del, XM_006722846.3:c.1778_1780del, XM_006722846.2:c.1778_1780del, XM_006722846.1:c.1778_1780del, XM_011528198.2:c.1778_1780del, XM_011528198.1:c.1778_1780del, XM_024451658.2:c.1778_1780del, XM_024451658.1:c.1778_1780del, XM_024451661.2:c.1778_1780del, XM_024451661.1:c.1778_1780del, XM_024451663.2:c.1778_1780del, XM_024451663.1:c.1778_1780del, XM_024451667.2:c.1778_1780del, XM_024451667.1:c.1778_1780del, XM_047439243.1:c.1778_1780del, XM_047439248.1:c.1778_1780del, XM_047439251.1:c.1778_1780del, XM_047439244.1:c.1778_1780del, XM_047439245.1:c.1778_1780del, XM_047439246.1:c.1778_1780del, XM_047439249.1:c.1778_1780del, XM_047439247.1:c.1778_1780del, XM_047439250.1:c.1778_1780del, NP_003063.2:p.Glu593del, NP_001122319.1:p.Glu593del, NP_001122321.1:p.Glu593del, NP_001122316.1:p.Glu593del, NP_001122317.1:p.Glu593del, NP_001122318.1:p.Glu593del, NP_001122320.1:p.Glu593del, NP_001374212.1:p.Glu593del, NP_001361386.1:p.Glu593del, XP_006722909.1:p.Glu593del, XP_011526500.1:p.Glu593del, XP_024307426.1:p.Glu593del, XP_024307429.1:p.Glu593del, XP_024307431.1:p.Glu593del, XP_024307435.1:p.Glu593del, XP_047295199.1:p.Glu593del, XP_047295204.1:p.Glu593del, XP_047295207.1:p.Glu593del, XP_047295200.1:p.Glu593del, XP_047295201.1:p.Glu593del, XP_047295202.1:p.Glu593del, XP_047295205.1:p.Glu593del, XP_047295203.1:p.Glu593del, XP_047295206.1:p.Glu593del

                              15.

                              rs1484090476 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                19:11060143 (GRCh38)
                                19:11170819 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:11060142:A:T
                                Gene:
                                SMARCA4 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,stop_gained,coding_sequence_variant
                                Validated:
                                by cluster
                                HGVS:
                                NC_000019.10:g.11060143A>T, NC_000019.9:g.11170819A>T, NG_011556.3:g.104212A>T, NM_003072.5:c.4867A>T, NM_003072.4:c.4867A>T, NM_003072.3:c.4867A>T, NM_001128847.4:c.4768A>T, NM_001128847.3:c.4768A>T, NM_001128847.2:c.4768A>T, NM_001128847.1:c.4768A>T, NM_001128849.3:c.4963A>T, NM_001128849.2:c.4963A>T, NM_001128849.1:c.4963A>T, NM_001128844.3:c.4867A>T, NM_001128844.2:c.4867A>T, NM_001128844.1:c.4867A>T, NM_001128845.2:c.4777A>T, NM_001128845.1:c.4777A>T, NM_001128846.2:c.4774A>T, NM_001128846.1:c.4774A>T, NM_001128848.2:c.4765A>T, NM_001128848.1:c.4765A>T, NR_164683.1:n.5254A>T, NM_001387283.1:c.4963A>T, NM_001411150.1:c.4864A>T, NM_001374457.1:c.4768A>T, XM_006722846.3:c.4963A>T, XM_006722846.2:c.4963A>T, XM_006722846.1:c.4963A>T, XM_011528198.2:c.4963A>T, XM_011528198.1:c.4963A>T, XM_024451658.2:c.4963A>T, XM_024451658.1:c.4963A>T, XM_024451661.2:c.4864A>T, XM_024451661.1:c.4864A>T, XM_024451663.2:c.4861A>T, XM_024451663.1:c.4861A>T, XM_024451667.2:c.4765A>T, XM_024451667.1:c.4765A>T, XM_047439243.1:c.4963A>T, XM_047439248.1:c.4768A>T, XM_047439251.1:c.4765A>T, XM_047439244.1:c.4867A>T, XM_047439245.1:c.4864A>T, XM_047439246.1:c.4861A>T, XM_047439249.1:c.4765A>T, XM_047439247.1:c.4768A>T, XM_047439250.1:c.4765A>T, NP_003063.2:p.Lys1623Ter, NP_001122319.1:p.Lys1590Ter, NP_001122321.1:p.Lys1655Ter, NP_001122316.1:p.Lys1623Ter, NP_001122317.1:p.Lys1593Ter, NP_001122318.1:p.Lys1592Ter, NP_001122320.1:p.Lys1589Ter, NP_001374212.1:p.Lys1655Ter, NP_001361386.1:p.Lys1590Ter, XP_006722909.1:p.Lys1655Ter, XP_011526500.1:p.Lys1655Ter, XP_024307426.1:p.Lys1655Ter, XP_024307429.1:p.Lys1622Ter, XP_024307431.1:p.Lys1621Ter, XP_024307435.1:p.Lys1589Ter, XP_047295199.1:p.Lys1655Ter, XP_047295204.1:p.Lys1590Ter, XP_047295207.1:p.Lys1589Ter, XP_047295200.1:p.Lys1623Ter, XP_047295201.1:p.Lys1622Ter, XP_047295202.1:p.Lys1621Ter, XP_047295205.1:p.Lys1589Ter, XP_047295203.1:p.Lys1590Ter, XP_047295206.1:p.Lys1589Ter

                                16.

                                rs1483352845 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  19:11010514 (GRCh38)
                                  19:11121190 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:11010513:G:A,NC_000019.10:11010513:G:C
                                  Gene:
                                  SMARCA4 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000019.10:g.11010514G>A, NC_000019.10:g.11010514G>C, NC_000019.9:g.11121190G>A, NC_000019.9:g.11121190G>C, NG_011556.3:g.54583G>A, NG_011556.3:g.54583G>C, NM_003072.5:c.2257G>A, NM_003072.5:c.2257G>C, NM_003072.4:c.2257G>A, NM_003072.4:c.2257G>C, NM_003072.3:c.2257G>A, NM_003072.3:c.2257G>C, NM_001128847.4:c.2257G>A, NM_001128847.4:c.2257G>C, NM_001128847.3:c.2257G>A, NM_001128847.3:c.2257G>C, NM_001128847.2:c.2257G>A, NM_001128847.2:c.2257G>C, NM_001128847.1:c.2257G>A, NM_001128847.1:c.2257G>C, NM_001128849.3:c.2257G>A, NM_001128849.3:c.2257G>C, NM_001128849.2:c.2257G>A, NM_001128849.2:c.2257G>C, NM_001128849.1:c.2257G>A, NM_001128849.1:c.2257G>C, NM_001128844.3:c.2257G>A, NM_001128844.3:c.2257G>C, NM_001128844.2:c.2257G>A, NM_001128844.2:c.2257G>C, NM_001128844.1:c.2257G>A, NM_001128844.1:c.2257G>C, NM_001128845.2:c.2257G>A, NM_001128845.2:c.2257G>C, NM_001128845.1:c.2257G>A, NM_001128845.1:c.2257G>C, NM_001128846.2:c.2257G>A, NM_001128846.2:c.2257G>C, NM_001128846.1:c.2257G>A, NM_001128846.1:c.2257G>C, NM_001128848.2:c.2257G>A, NM_001128848.2:c.2257G>C, NM_001128848.1:c.2257G>A, NM_001128848.1:c.2257G>C, NR_164683.1:n.2433G>A, NR_164683.1:n.2433G>C, NM_001387283.1:c.2257G>A, NM_001387283.1:c.2257G>C, NM_001411150.1:c.2257G>A, NM_001411150.1:c.2257G>C, NM_001374457.1:c.2257G>A, NM_001374457.1:c.2257G>C, XM_006722846.3:c.2257G>A, XM_006722846.3:c.2257G>C, XM_006722846.2:c.2257G>A, XM_006722846.2:c.2257G>C, XM_006722846.1:c.2257G>A, XM_006722846.1:c.2257G>C, XM_011528198.2:c.2257G>A, XM_011528198.2:c.2257G>C, XM_011528198.1:c.2257G>A, XM_011528198.1:c.2257G>C, XM_024451658.2:c.2257G>A, XM_024451658.2:c.2257G>C, XM_024451658.1:c.2257G>A, XM_024451658.1:c.2257G>C, XM_024451661.2:c.2257G>A, XM_024451661.2:c.2257G>C, XM_024451661.1:c.2257G>A, XM_024451661.1:c.2257G>C, XM_024451663.2:c.2257G>A, XM_024451663.2:c.2257G>C, XM_024451663.1:c.2257G>A, XM_024451663.1:c.2257G>C, XM_024451667.2:c.2257G>A, XM_024451667.2:c.2257G>C, XM_024451667.1:c.2257G>A, XM_024451667.1:c.2257G>C, XM_047439243.1:c.2257G>A, XM_047439243.1:c.2257G>C, XM_047439248.1:c.2257G>A, XM_047439248.1:c.2257G>C, XM_047439251.1:c.2257G>A, XM_047439251.1:c.2257G>C, XM_047439244.1:c.2257G>A, XM_047439244.1:c.2257G>C, XM_047439245.1:c.2257G>A, XM_047439245.1:c.2257G>C, XM_047439246.1:c.2257G>A, XM_047439246.1:c.2257G>C, XM_047439249.1:c.2257G>A, XM_047439249.1:c.2257G>C, XM_047439247.1:c.2257G>A, XM_047439247.1:c.2257G>C, XM_047439250.1:c.2257G>A, XM_047439250.1:c.2257G>C, NP_003063.2:p.Val753Ile, NP_003063.2:p.Val753Leu, NP_001122319.1:p.Val753Ile, NP_001122319.1:p.Val753Leu, NP_001122321.1:p.Val753Ile, NP_001122321.1:p.Val753Leu, NP_001122316.1:p.Val753Ile, NP_001122316.1:p.Val753Leu, NP_001122317.1:p.Val753Ile, NP_001122317.1:p.Val753Leu, NP_001122318.1:p.Val753Ile, NP_001122318.1:p.Val753Leu, NP_001122320.1:p.Val753Ile, NP_001122320.1:p.Val753Leu, NP_001374212.1:p.Val753Ile, NP_001374212.1:p.Val753Leu, NP_001361386.1:p.Val753Ile, NP_001361386.1:p.Val753Leu, XP_006722909.1:p.Val753Ile, XP_006722909.1:p.Val753Leu, XP_011526500.1:p.Val753Ile, XP_011526500.1:p.Val753Leu, XP_024307426.1:p.Val753Ile, XP_024307426.1:p.Val753Leu, XP_024307429.1:p.Val753Ile, XP_024307429.1:p.Val753Leu, XP_024307431.1:p.Val753Ile, XP_024307431.1:p.Val753Leu, XP_024307435.1:p.Val753Ile, XP_024307435.1:p.Val753Leu, XP_047295199.1:p.Val753Ile, XP_047295199.1:p.Val753Leu, XP_047295204.1:p.Val753Ile, XP_047295204.1:p.Val753Leu, XP_047295207.1:p.Val753Ile, XP_047295207.1:p.Val753Leu, XP_047295200.1:p.Val753Ile, XP_047295200.1:p.Val753Leu, XP_047295201.1:p.Val753Ile, XP_047295201.1:p.Val753Leu, XP_047295202.1:p.Val753Ile, XP_047295202.1:p.Val753Leu, XP_047295205.1:p.Val753Ile, XP_047295205.1:p.Val753Leu, XP_047295203.1:p.Val753Ile, XP_047295203.1:p.Val753Leu, XP_047295206.1:p.Val753Ile, XP_047295206.1:p.Val753Leu

                                  17.

                                  rs1482864360 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C,T [Show Flanks]
                                    Chromosome:
                                    19:11034938 (GRCh38)
                                    19:11145614 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:11034937:G:A,NC_000019.10:11034937:G:C,NC_000019.10:11034937:G:T
                                    Gene:
                                    SMARCA4 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,stop_gained,missense_variant,coding_sequence_variant
                                    Clinical significance:
                                    uncertain-significance
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.11034938G>A, NC_000019.10:g.11034938G>C, NC_000019.10:g.11034938G>T, NC_000019.9:g.11145614G>A, NC_000019.9:g.11145614G>C, NC_000019.9:g.11145614G>T, NG_011556.3:g.79007G>A, NG_011556.3:g.79007G>C, NG_011556.3:g.79007G>T, NM_003072.5:c.3976G>A, NM_003072.5:c.3976G>C, NM_003072.5:c.3976G>T, NM_003072.4:c.3976G>A, NM_003072.4:c.3976G>C, NM_003072.4:c.3976G>T, NM_003072.3:c.3976G>A, NM_003072.3:c.3976G>C, NM_003072.3:c.3976G>T, NM_001128847.4:c.3877G>A, NM_001128847.4:c.3877G>C, NM_001128847.4:c.3877G>T, NM_001128847.3:c.3877G>A, NM_001128847.3:c.3877G>C, NM_001128847.3:c.3877G>T, NM_001128847.2:c.3877G>A, NM_001128847.2:c.3877G>C, NM_001128847.2:c.3877G>T, NM_001128847.1:c.3877G>A, NM_001128847.1:c.3877G>C, NM_001128847.1:c.3877G>T, NM_001128849.3:c.3976G>A, NM_001128849.3:c.3976G>C, NM_001128849.3:c.3976G>T, NM_001128849.2:c.3976G>A, NM_001128849.2:c.3976G>C, NM_001128849.2:c.3976G>T, NM_001128849.1:c.3976G>A, NM_001128849.1:c.3976G>C, NM_001128849.1:c.3976G>T, NM_001128844.3:c.3976G>A, NM_001128844.3:c.3976G>C, NM_001128844.3:c.3976G>T, NM_001128844.2:c.3976G>A, NM_001128844.2:c.3976G>C, NM_001128844.2:c.3976G>T, NM_001128844.1:c.3976G>A, NM_001128844.1:c.3976G>C, NM_001128844.1:c.3976G>T, NM_001128845.2:c.3877G>A, NM_001128845.2:c.3877G>C, NM_001128845.2:c.3877G>T, NM_001128845.1:c.3877G>A, NM_001128845.1:c.3877G>C, NM_001128845.1:c.3877G>T, NM_001128846.2:c.3877G>A, NM_001128846.2:c.3877G>C, NM_001128846.2:c.3877G>T, NM_001128846.1:c.3877G>A, NM_001128846.1:c.3877G>C, NM_001128846.1:c.3877G>T, NM_001128848.2:c.3877G>A, NM_001128848.2:c.3877G>C, NM_001128848.2:c.3877G>T, NM_001128848.1:c.3877G>A, NM_001128848.1:c.3877G>C, NM_001128848.1:c.3877G>T, NR_164683.1:n.4167G>A, NR_164683.1:n.4167G>C, NR_164683.1:n.4167G>T, NM_001387283.1:c.3976G>A, NM_001387283.1:c.3976G>C, NM_001387283.1:c.3976G>T, NM_001411150.1:c.3877G>A, NM_001411150.1:c.3877G>C, NM_001411150.1:c.3877G>T, NM_001374457.1:c.3877G>A, NM_001374457.1:c.3877G>C, NM_001374457.1:c.3877G>T, XM_006722846.3:c.3976G>A, XM_006722846.3:c.3976G>C, XM_006722846.3:c.3976G>T, XM_006722846.2:c.3976G>A, XM_006722846.2:c.3976G>C, XM_006722846.2:c.3976G>T, XM_006722846.1:c.3976G>A, XM_006722846.1:c.3976G>C, XM_006722846.1:c.3976G>T, XM_011528198.2:c.3976G>A, XM_011528198.2:c.3976G>C, XM_011528198.2:c.3976G>T, XM_011528198.1:c.3976G>A, XM_011528198.1:c.3976G>C, XM_011528198.1:c.3976G>T, XM_024451658.2:c.3976G>A, XM_024451658.2:c.3976G>C, XM_024451658.2:c.3976G>T, XM_024451658.1:c.3976G>A, XM_024451658.1:c.3976G>C, XM_024451658.1:c.3976G>T, XM_024451661.2:c.3877G>A, XM_024451661.2:c.3877G>C, XM_024451661.2:c.3877G>T, XM_024451661.1:c.3877G>A, XM_024451661.1:c.3877G>C, XM_024451661.1:c.3877G>T, XM_024451663.2:c.3877G>A, XM_024451663.2:c.3877G>C, XM_024451663.2:c.3877G>T, XM_024451663.1:c.3877G>A, XM_024451663.1:c.3877G>C, XM_024451663.1:c.3877G>T, XM_024451667.2:c.3877G>A, XM_024451667.2:c.3877G>C, XM_024451667.2:c.3877G>T, XM_024451667.1:c.3877G>A, XM_024451667.1:c.3877G>C, XM_024451667.1:c.3877G>T, XM_047439243.1:c.3976G>A, XM_047439243.1:c.3976G>C, XM_047439243.1:c.3976G>T, XM_047439248.1:c.3877G>A, XM_047439248.1:c.3877G>C, XM_047439248.1:c.3877G>T, XM_047439251.1:c.3877G>A, XM_047439251.1:c.3877G>C, XM_047439251.1:c.3877G>T, XM_047439244.1:c.3976G>A, XM_047439244.1:c.3976G>C, XM_047439244.1:c.3976G>T, XM_047439245.1:c.3877G>A, XM_047439245.1:c.3877G>C, XM_047439245.1:c.3877G>T, XM_047439246.1:c.3877G>A, XM_047439246.1:c.3877G>C, XM_047439246.1:c.3877G>T, XM_047439249.1:c.3877G>A, XM_047439249.1:c.3877G>C, XM_047439249.1:c.3877G>T, XM_047439247.1:c.3877G>A, XM_047439247.1:c.3877G>C, XM_047439247.1:c.3877G>T, XM_047439250.1:c.3877G>A, XM_047439250.1:c.3877G>C, XM_047439250.1:c.3877G>T, NP_003063.2:p.Glu1326Lys, NP_003063.2:p.Glu1326Gln, NP_003063.2:p.Glu1326Ter, NP_001122319.1:p.Glu1293Lys, NP_001122319.1:p.Glu1293Gln, NP_001122319.1:p.Glu1293Ter, NP_001122321.1:p.Glu1326Lys, NP_001122321.1:p.Glu1326Gln, NP_001122321.1:p.Glu1326Ter, NP_001122316.1:p.Glu1326Lys, NP_001122316.1:p.Glu1326Gln, NP_001122316.1:p.Glu1326Ter, NP_001122317.1:p.Glu1293Lys, NP_001122317.1:p.Glu1293Gln, NP_001122317.1:p.Glu1293Ter, NP_001122318.1:p.Glu1293Lys, NP_001122318.1:p.Glu1293Gln, NP_001122318.1:p.Glu1293Ter, NP_001122320.1:p.Glu1293Lys, NP_001122320.1:p.Glu1293Gln, NP_001122320.1:p.Glu1293Ter, NP_001374212.1:p.Glu1326Lys, NP_001374212.1:p.Glu1326Gln, NP_001374212.1:p.Glu1326Ter, NP_001361386.1:p.Glu1293Lys, NP_001361386.1:p.Glu1293Gln, NP_001361386.1:p.Glu1293Ter, XP_006722909.1:p.Glu1326Lys, XP_006722909.1:p.Glu1326Gln, XP_006722909.1:p.Glu1326Ter, XP_011526500.1:p.Glu1326Lys, XP_011526500.1:p.Glu1326Gln, XP_011526500.1:p.Glu1326Ter, XP_024307426.1:p.Glu1326Lys, XP_024307426.1:p.Glu1326Gln, XP_024307426.1:p.Glu1326Ter, XP_024307429.1:p.Glu1293Lys, XP_024307429.1:p.Glu1293Gln, XP_024307429.1:p.Glu1293Ter, XP_024307431.1:p.Glu1293Lys, XP_024307431.1:p.Glu1293Gln, XP_024307431.1:p.Glu1293Ter, XP_024307435.1:p.Glu1293Lys, XP_024307435.1:p.Glu1293Gln, XP_024307435.1:p.Glu1293Ter, XP_047295199.1:p.Glu1326Lys, XP_047295199.1:p.Glu1326Gln, XP_047295199.1:p.Glu1326Ter, XP_047295204.1:p.Glu1293Lys, XP_047295204.1:p.Glu1293Gln, XP_047295204.1:p.Glu1293Ter, XP_047295207.1:p.Glu1293Lys, XP_047295207.1:p.Glu1293Gln, XP_047295207.1:p.Glu1293Ter, XP_047295200.1:p.Glu1326Lys, XP_047295200.1:p.Glu1326Gln, XP_047295200.1:p.Glu1326Ter, XP_047295201.1:p.Glu1293Lys, XP_047295201.1:p.Glu1293Gln, XP_047295201.1:p.Glu1293Ter, XP_047295202.1:p.Glu1293Lys, XP_047295202.1:p.Glu1293Gln, XP_047295202.1:p.Glu1293Ter, XP_047295205.1:p.Glu1293Lys, XP_047295205.1:p.Glu1293Gln, XP_047295205.1:p.Glu1293Ter, XP_047295203.1:p.Glu1293Lys, XP_047295203.1:p.Glu1293Gln, XP_047295203.1:p.Glu1293Ter, XP_047295206.1:p.Glu1293Lys, XP_047295206.1:p.Glu1293Gln, XP_047295206.1:p.Glu1293Ter

                                    18.

                                    rs1481438921 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G,T [Show Flanks]
                                      Chromosome:
                                      19:10987719 (GRCh38)
                                      19:11098395 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:10987718:C:A,NC_000019.10:10987718:C:G,NC_000019.10:10987718:C:T
                                      Gene:
                                      SMARCA4 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      A=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.10987719C>A, NC_000019.10:g.10987719C>G, NC_000019.10:g.10987719C>T, NC_000019.9:g.11098395C>A, NC_000019.9:g.11098395C>G, NC_000019.9:g.11098395C>T, NG_011556.3:g.31788C>A, NG_011556.3:g.31788C>G, NG_011556.3:g.31788C>T, NM_003072.5:c.913C>A, NM_003072.5:c.913C>G, NM_003072.5:c.913C>T, NM_003072.4:c.913C>A, NM_003072.4:c.913C>G, NM_003072.4:c.913C>T, NM_003072.3:c.913C>A, NM_003072.3:c.913C>G, NM_003072.3:c.913C>T, NM_001128847.4:c.913C>A, NM_001128847.4:c.913C>G, NM_001128847.4:c.913C>T, NM_001128847.3:c.913C>A, NM_001128847.3:c.913C>G, NM_001128847.3:c.913C>T, NM_001128847.2:c.913C>A, NM_001128847.2:c.913C>G, NM_001128847.2:c.913C>T, NM_001128847.1:c.913C>A, NM_001128847.1:c.913C>G, NM_001128847.1:c.913C>T, NM_001128849.3:c.913C>A, NM_001128849.3:c.913C>G, NM_001128849.3:c.913C>T, NM_001128849.2:c.913C>A, NM_001128849.2:c.913C>G, NM_001128849.2:c.913C>T, NM_001128849.1:c.913C>A, NM_001128849.1:c.913C>G, NM_001128849.1:c.913C>T, NM_001128844.3:c.913C>A, NM_001128844.3:c.913C>G, NM_001128844.3:c.913C>T, NM_001128844.2:c.913C>A, NM_001128844.2:c.913C>G, NM_001128844.2:c.913C>T, NM_001128844.1:c.913C>A, NM_001128844.1:c.913C>G, NM_001128844.1:c.913C>T, NM_001128845.2:c.913C>A, NM_001128845.2:c.913C>G, NM_001128845.2:c.913C>T, NM_001128845.1:c.913C>A, NM_001128845.1:c.913C>G, NM_001128845.1:c.913C>T, NM_001128846.2:c.913C>A, NM_001128846.2:c.913C>G, NM_001128846.2:c.913C>T, NM_001128846.1:c.913C>A, NM_001128846.1:c.913C>G, NM_001128846.1:c.913C>T, NM_001128848.2:c.913C>A, NM_001128848.2:c.913C>G, NM_001128848.2:c.913C>T, NM_001128848.1:c.913C>A, NM_001128848.1:c.913C>G, NM_001128848.1:c.913C>T, NR_164683.1:n.1089C>A, NR_164683.1:n.1089C>G, NR_164683.1:n.1089C>T, NM_001387283.1:c.913C>A, NM_001387283.1:c.913C>G, NM_001387283.1:c.913C>T, NM_001411150.1:c.913C>A, NM_001411150.1:c.913C>G, NM_001411150.1:c.913C>T, NM_001374457.1:c.913C>A, NM_001374457.1:c.913C>G, NM_001374457.1:c.913C>T, XM_006722846.3:c.913C>A, XM_006722846.3:c.913C>G, XM_006722846.3:c.913C>T, XM_006722846.2:c.913C>A, XM_006722846.2:c.913C>G, XM_006722846.2:c.913C>T, XM_006722846.1:c.913C>A, XM_006722846.1:c.913C>G, XM_006722846.1:c.913C>T, XM_011528198.2:c.913C>A, XM_011528198.2:c.913C>G, XM_011528198.2:c.913C>T, XM_011528198.1:c.913C>A, XM_011528198.1:c.913C>G, XM_011528198.1:c.913C>T, XM_024451658.2:c.913C>A, XM_024451658.2:c.913C>G, XM_024451658.2:c.913C>T, XM_024451658.1:c.913C>A, XM_024451658.1:c.913C>G, XM_024451658.1:c.913C>T, XM_024451661.2:c.913C>A, XM_024451661.2:c.913C>G, XM_024451661.2:c.913C>T, XM_024451661.1:c.913C>A, XM_024451661.1:c.913C>G, XM_024451661.1:c.913C>T, XM_024451663.2:c.913C>A, XM_024451663.2:c.913C>G, XM_024451663.2:c.913C>T, XM_024451663.1:c.913C>A, XM_024451663.1:c.913C>G, XM_024451663.1:c.913C>T, XM_024451667.2:c.913C>A, XM_024451667.2:c.913C>G, XM_024451667.2:c.913C>T, XM_024451667.1:c.913C>A, XM_024451667.1:c.913C>G, XM_024451667.1:c.913C>T, XM_047439243.1:c.913C>A, XM_047439243.1:c.913C>G, XM_047439243.1:c.913C>T, XM_047439248.1:c.913C>A, XM_047439248.1:c.913C>G, XM_047439248.1:c.913C>T, XM_047439251.1:c.913C>A, XM_047439251.1:c.913C>G, XM_047439251.1:c.913C>T, XM_047439244.1:c.913C>A, XM_047439244.1:c.913C>G, XM_047439244.1:c.913C>T, XM_047439245.1:c.913C>A, XM_047439245.1:c.913C>G, XM_047439245.1:c.913C>T, XM_047439246.1:c.913C>A, XM_047439246.1:c.913C>G, XM_047439246.1:c.913C>T, XM_047439249.1:c.913C>A, XM_047439249.1:c.913C>G, XM_047439249.1:c.913C>T, XM_047439247.1:c.913C>A, XM_047439247.1:c.913C>G, XM_047439247.1:c.913C>T, XM_047439250.1:c.913C>A, XM_047439250.1:c.913C>G, XM_047439250.1:c.913C>T, NP_003063.2:p.Pro305Thr, NP_003063.2:p.Pro305Ala, NP_003063.2:p.Pro305Ser, NP_001122319.1:p.Pro305Thr, NP_001122319.1:p.Pro305Ala, NP_001122319.1:p.Pro305Ser, NP_001122321.1:p.Pro305Thr, NP_001122321.1:p.Pro305Ala, NP_001122321.1:p.Pro305Ser, NP_001122316.1:p.Pro305Thr, NP_001122316.1:p.Pro305Ala, NP_001122316.1:p.Pro305Ser, NP_001122317.1:p.Pro305Thr, NP_001122317.1:p.Pro305Ala, NP_001122317.1:p.Pro305Ser, NP_001122318.1:p.Pro305Thr, NP_001122318.1:p.Pro305Ala, NP_001122318.1:p.Pro305Ser, NP_001122320.1:p.Pro305Thr, NP_001122320.1:p.Pro305Ala, NP_001122320.1:p.Pro305Ser, NP_001374212.1:p.Pro305Thr, NP_001374212.1:p.Pro305Ala, NP_001374212.1:p.Pro305Ser, NP_001361386.1:p.Pro305Thr, NP_001361386.1:p.Pro305Ala, NP_001361386.1:p.Pro305Ser, XP_006722909.1:p.Pro305Thr, XP_006722909.1:p.Pro305Ala, XP_006722909.1:p.Pro305Ser, XP_011526500.1:p.Pro305Thr, XP_011526500.1:p.Pro305Ala, XP_011526500.1:p.Pro305Ser, XP_024307426.1:p.Pro305Thr, XP_024307426.1:p.Pro305Ala, XP_024307426.1:p.Pro305Ser, XP_024307429.1:p.Pro305Thr, XP_024307429.1:p.Pro305Ala, XP_024307429.1:p.Pro305Ser, XP_024307431.1:p.Pro305Thr, XP_024307431.1:p.Pro305Ala, XP_024307431.1:p.Pro305Ser, XP_024307435.1:p.Pro305Thr, XP_024307435.1:p.Pro305Ala, XP_024307435.1:p.Pro305Ser, XP_047295199.1:p.Pro305Thr, XP_047295199.1:p.Pro305Ala, XP_047295199.1:p.Pro305Ser, XP_047295204.1:p.Pro305Thr, XP_047295204.1:p.Pro305Ala, XP_047295204.1:p.Pro305Ser, XP_047295207.1:p.Pro305Thr, XP_047295207.1:p.Pro305Ala, XP_047295207.1:p.Pro305Ser, XP_047295200.1:p.Pro305Thr, XP_047295200.1:p.Pro305Ala, XP_047295200.1:p.Pro305Ser, XP_047295201.1:p.Pro305Thr, XP_047295201.1:p.Pro305Ala, XP_047295201.1:p.Pro305Ser, XP_047295202.1:p.Pro305Thr, XP_047295202.1:p.Pro305Ala, XP_047295202.1:p.Pro305Ser, XP_047295205.1:p.Pro305Thr, XP_047295205.1:p.Pro305Ala, XP_047295205.1:p.Pro305Ser, XP_047295203.1:p.Pro305Thr, XP_047295203.1:p.Pro305Ala, XP_047295203.1:p.Pro305Ser, XP_047295206.1:p.Pro305Thr, XP_047295206.1:p.Pro305Ala, XP_047295206.1:p.Pro305Ser

                                      19.

                                      rs1480739342 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G,T [Show Flanks]
                                        Chromosome:
                                        19:10994964 (GRCh38)
                                        19:11105640 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:10994963:A:C,NC_000019.10:10994963:A:G,NC_000019.10:10994963:A:T
                                        Gene:
                                        SMARCA4 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by cluster
                                        MAF:
                                        G=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.10994964A>C, NC_000019.10:g.10994964A>G, NC_000019.10:g.10994964A>T, NC_000019.9:g.11105640A>C, NC_000019.9:g.11105640A>G, NC_000019.9:g.11105640A>T, NG_011556.3:g.39033A>C, NG_011556.3:g.39033A>G, NG_011556.3:g.39033A>T, NM_003072.5:c.1556A>C, NM_003072.5:c.1556A>G, NM_003072.5:c.1556A>T, NM_003072.4:c.1556A>C, NM_003072.4:c.1556A>G, NM_003072.4:c.1556A>T, NM_003072.3:c.1556A>C, NM_003072.3:c.1556A>G, NM_003072.3:c.1556A>T, NM_001128847.4:c.1556A>C, NM_001128847.4:c.1556A>G, NM_001128847.4:c.1556A>T, NM_001128847.3:c.1556A>C, NM_001128847.3:c.1556A>G, NM_001128847.3:c.1556A>T, NM_001128847.2:c.1556A>C, NM_001128847.2:c.1556A>G, NM_001128847.2:c.1556A>T, NM_001128847.1:c.1556A>C, NM_001128847.1:c.1556A>G, NM_001128847.1:c.1556A>T, NM_001128849.3:c.1556A>C, NM_001128849.3:c.1556A>G, NM_001128849.3:c.1556A>T, NM_001128849.2:c.1556A>C, NM_001128849.2:c.1556A>G, NM_001128849.2:c.1556A>T, NM_001128849.1:c.1556A>C, NM_001128849.1:c.1556A>G, NM_001128849.1:c.1556A>T, NM_001128844.3:c.1556A>C, NM_001128844.3:c.1556A>G, NM_001128844.3:c.1556A>T, NM_001128844.2:c.1556A>C, NM_001128844.2:c.1556A>G, NM_001128844.2:c.1556A>T, NM_001128844.1:c.1556A>C, NM_001128844.1:c.1556A>G, NM_001128844.1:c.1556A>T, NM_001128845.2:c.1556A>C, NM_001128845.2:c.1556A>G, NM_001128845.2:c.1556A>T, NM_001128845.1:c.1556A>C, NM_001128845.1:c.1556A>G, NM_001128845.1:c.1556A>T, NM_001128846.2:c.1556A>C, NM_001128846.2:c.1556A>G, NM_001128846.2:c.1556A>T, NM_001128846.1:c.1556A>C, NM_001128846.1:c.1556A>G, NM_001128846.1:c.1556A>T, NM_001128848.2:c.1556A>C, NM_001128848.2:c.1556A>G, NM_001128848.2:c.1556A>T, NM_001128848.1:c.1556A>C, NM_001128848.1:c.1556A>G, NM_001128848.1:c.1556A>T, NR_164683.1:n.1732A>C, NR_164683.1:n.1732A>G, NR_164683.1:n.1732A>T, NM_001387283.1:c.1556A>C, NM_001387283.1:c.1556A>G, NM_001387283.1:c.1556A>T, NM_001411150.1:c.1556A>C, NM_001411150.1:c.1556A>G, NM_001411150.1:c.1556A>T, NM_001374457.1:c.1556A>C, NM_001374457.1:c.1556A>G, NM_001374457.1:c.1556A>T, XM_006722846.3:c.1556A>C, XM_006722846.3:c.1556A>G, XM_006722846.3:c.1556A>T, XM_006722846.2:c.1556A>C, XM_006722846.2:c.1556A>G, XM_006722846.2:c.1556A>T, XM_006722846.1:c.1556A>C, XM_006722846.1:c.1556A>G, XM_006722846.1:c.1556A>T, XM_011528198.2:c.1556A>C, XM_011528198.2:c.1556A>G, XM_011528198.2:c.1556A>T, XM_011528198.1:c.1556A>C, XM_011528198.1:c.1556A>G, XM_011528198.1:c.1556A>T, XM_024451658.2:c.1556A>C, XM_024451658.2:c.1556A>G, XM_024451658.2:c.1556A>T, XM_024451658.1:c.1556A>C, XM_024451658.1:c.1556A>G, XM_024451658.1:c.1556A>T, XM_024451661.2:c.1556A>C, XM_024451661.2:c.1556A>G, XM_024451661.2:c.1556A>T, XM_024451661.1:c.1556A>C, XM_024451661.1:c.1556A>G, XM_024451661.1:c.1556A>T, XM_024451663.2:c.1556A>C, XM_024451663.2:c.1556A>G, XM_024451663.2:c.1556A>T, XM_024451663.1:c.1556A>C, XM_024451663.1:c.1556A>G, XM_024451663.1:c.1556A>T, XM_024451667.2:c.1556A>C, XM_024451667.2:c.1556A>G, XM_024451667.2:c.1556A>T, XM_024451667.1:c.1556A>C, XM_024451667.1:c.1556A>G, XM_024451667.1:c.1556A>T, XM_047439243.1:c.1556A>C, XM_047439243.1:c.1556A>G, XM_047439243.1:c.1556A>T, XM_047439248.1:c.1556A>C, XM_047439248.1:c.1556A>G, XM_047439248.1:c.1556A>T, XM_047439251.1:c.1556A>C, XM_047439251.1:c.1556A>G, XM_047439251.1:c.1556A>T, XM_047439244.1:c.1556A>C, XM_047439244.1:c.1556A>G, XM_047439244.1:c.1556A>T, XM_047439245.1:c.1556A>C, XM_047439245.1:c.1556A>G, XM_047439245.1:c.1556A>T, XM_047439246.1:c.1556A>C, XM_047439246.1:c.1556A>G, XM_047439246.1:c.1556A>T, XM_047439249.1:c.1556A>C, XM_047439249.1:c.1556A>G, XM_047439249.1:c.1556A>T, XM_047439247.1:c.1556A>C, XM_047439247.1:c.1556A>G, XM_047439247.1:c.1556A>T, XM_047439250.1:c.1556A>C, XM_047439250.1:c.1556A>G, XM_047439250.1:c.1556A>T, NP_003063.2:p.Asn519Thr, NP_003063.2:p.Asn519Ser, NP_003063.2:p.Asn519Ile, NP_001122319.1:p.Asn519Thr, NP_001122319.1:p.Asn519Ser, NP_001122319.1:p.Asn519Ile, NP_001122321.1:p.Asn519Thr, NP_001122321.1:p.Asn519Ser, NP_001122321.1:p.Asn519Ile, NP_001122316.1:p.Asn519Thr, NP_001122316.1:p.Asn519Ser, NP_001122316.1:p.Asn519Ile, NP_001122317.1:p.Asn519Thr, NP_001122317.1:p.Asn519Ser, NP_001122317.1:p.Asn519Ile, NP_001122318.1:p.Asn519Thr, NP_001122318.1:p.Asn519Ser, NP_001122318.1:p.Asn519Ile, NP_001122320.1:p.Asn519Thr, NP_001122320.1:p.Asn519Ser, NP_001122320.1:p.Asn519Ile, NP_001374212.1:p.Asn519Thr, NP_001374212.1:p.Asn519Ser, NP_001374212.1:p.Asn519Ile, NP_001361386.1:p.Asn519Thr, NP_001361386.1:p.Asn519Ser, NP_001361386.1:p.Asn519Ile, XP_006722909.1:p.Asn519Thr, XP_006722909.1:p.Asn519Ser, XP_006722909.1:p.Asn519Ile, XP_011526500.1:p.Asn519Thr, XP_011526500.1:p.Asn519Ser, XP_011526500.1:p.Asn519Ile, XP_024307426.1:p.Asn519Thr, XP_024307426.1:p.Asn519Ser, XP_024307426.1:p.Asn519Ile, XP_024307429.1:p.Asn519Thr, XP_024307429.1:p.Asn519Ser, XP_024307429.1:p.Asn519Ile, XP_024307431.1:p.Asn519Thr, XP_024307431.1:p.Asn519Ser, XP_024307431.1:p.Asn519Ile, XP_024307435.1:p.Asn519Thr, XP_024307435.1:p.Asn519Ser, XP_024307435.1:p.Asn519Ile, XP_047295199.1:p.Asn519Thr, XP_047295199.1:p.Asn519Ser, XP_047295199.1:p.Asn519Ile, XP_047295204.1:p.Asn519Thr, XP_047295204.1:p.Asn519Ser, XP_047295204.1:p.Asn519Ile, XP_047295207.1:p.Asn519Thr, XP_047295207.1:p.Asn519Ser, XP_047295207.1:p.Asn519Ile, XP_047295200.1:p.Asn519Thr, XP_047295200.1:p.Asn519Ser, XP_047295200.1:p.Asn519Ile, XP_047295201.1:p.Asn519Thr, XP_047295201.1:p.Asn519Ser, XP_047295201.1:p.Asn519Ile, XP_047295202.1:p.Asn519Thr, XP_047295202.1:p.Asn519Ser, XP_047295202.1:p.Asn519Ile, XP_047295205.1:p.Asn519Thr, XP_047295205.1:p.Asn519Ser, XP_047295205.1:p.Asn519Ile, XP_047295203.1:p.Asn519Thr, XP_047295203.1:p.Asn519Ser, XP_047295203.1:p.Asn519Ile, XP_047295206.1:p.Asn519Thr, XP_047295206.1:p.Asn519Ser, XP_047295206.1:p.Asn519Ile

                                        20.

                                        rs1480429811 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          19:10987749 (GRCh38)
                                          19:11098425 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:10987748:C:A,NC_000019.10:10987748:C:G,NC_000019.10:10987748:C:T
                                          Gene:
                                          SMARCA4 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.10987749C>A, NC_000019.10:g.10987749C>G, NC_000019.10:g.10987749C>T, NC_000019.9:g.11098425C>A, NC_000019.9:g.11098425C>G, NC_000019.9:g.11098425C>T, NG_011556.3:g.31818C>A, NG_011556.3:g.31818C>G, NG_011556.3:g.31818C>T, NM_003072.5:c.943C>A, NM_003072.5:c.943C>G, NM_003072.5:c.943C>T, NM_003072.4:c.943C>A, NM_003072.4:c.943C>G, NM_003072.4:c.943C>T, NM_003072.3:c.943C>A, NM_003072.3:c.943C>G, NM_003072.3:c.943C>T, NM_001128847.4:c.943C>A, NM_001128847.4:c.943C>G, NM_001128847.4:c.943C>T, NM_001128847.3:c.943C>A, NM_001128847.3:c.943C>G, NM_001128847.3:c.943C>T, NM_001128847.2:c.943C>A, NM_001128847.2:c.943C>G, NM_001128847.2:c.943C>T, NM_001128847.1:c.943C>A, NM_001128847.1:c.943C>G, NM_001128847.1:c.943C>T, NM_001128849.3:c.943C>A, NM_001128849.3:c.943C>G, NM_001128849.3:c.943C>T, NM_001128849.2:c.943C>A, NM_001128849.2:c.943C>G, NM_001128849.2:c.943C>T, NM_001128849.1:c.943C>A, NM_001128849.1:c.943C>G, NM_001128849.1:c.943C>T, NM_001128844.3:c.943C>A, NM_001128844.3:c.943C>G, NM_001128844.3:c.943C>T, NM_001128844.2:c.943C>A, NM_001128844.2:c.943C>G, NM_001128844.2:c.943C>T, NM_001128844.1:c.943C>A, NM_001128844.1:c.943C>G, NM_001128844.1:c.943C>T, NM_001128845.2:c.943C>A, NM_001128845.2:c.943C>G, NM_001128845.2:c.943C>T, NM_001128845.1:c.943C>A, NM_001128845.1:c.943C>G, NM_001128845.1:c.943C>T, NM_001128846.2:c.943C>A, NM_001128846.2:c.943C>G, NM_001128846.2:c.943C>T, NM_001128846.1:c.943C>A, NM_001128846.1:c.943C>G, NM_001128846.1:c.943C>T, NM_001128848.2:c.943C>A, NM_001128848.2:c.943C>G, NM_001128848.2:c.943C>T, NM_001128848.1:c.943C>A, NM_001128848.1:c.943C>G, NM_001128848.1:c.943C>T, NR_164683.1:n.1119C>A, NR_164683.1:n.1119C>G, NR_164683.1:n.1119C>T, NM_001387283.1:c.943C>A, NM_001387283.1:c.943C>G, NM_001387283.1:c.943C>T, NM_001411150.1:c.943C>A, NM_001411150.1:c.943C>G, NM_001411150.1:c.943C>T, NM_001374457.1:c.943C>A, NM_001374457.1:c.943C>G, NM_001374457.1:c.943C>T, XM_006722846.3:c.943C>A, XM_006722846.3:c.943C>G, XM_006722846.3:c.943C>T, XM_006722846.2:c.943C>A, XM_006722846.2:c.943C>G, XM_006722846.2:c.943C>T, XM_006722846.1:c.943C>A, XM_006722846.1:c.943C>G, XM_006722846.1:c.943C>T, XM_011528198.2:c.943C>A, XM_011528198.2:c.943C>G, XM_011528198.2:c.943C>T, XM_011528198.1:c.943C>A, XM_011528198.1:c.943C>G, XM_011528198.1:c.943C>T, XM_024451658.2:c.943C>A, XM_024451658.2:c.943C>G, XM_024451658.2:c.943C>T, XM_024451658.1:c.943C>A, XM_024451658.1:c.943C>G, XM_024451658.1:c.943C>T, XM_024451661.2:c.943C>A, XM_024451661.2:c.943C>G, XM_024451661.2:c.943C>T, XM_024451661.1:c.943C>A, XM_024451661.1:c.943C>G, XM_024451661.1:c.943C>T, XM_024451663.2:c.943C>A, XM_024451663.2:c.943C>G, XM_024451663.2:c.943C>T, XM_024451663.1:c.943C>A, XM_024451663.1:c.943C>G, XM_024451663.1:c.943C>T, XM_024451667.2:c.943C>A, XM_024451667.2:c.943C>G, XM_024451667.2:c.943C>T, XM_024451667.1:c.943C>A, XM_024451667.1:c.943C>G, XM_024451667.1:c.943C>T, XM_047439243.1:c.943C>A, XM_047439243.1:c.943C>G, XM_047439243.1:c.943C>T, XM_047439248.1:c.943C>A, XM_047439248.1:c.943C>G, XM_047439248.1:c.943C>T, XM_047439251.1:c.943C>A, XM_047439251.1:c.943C>G, XM_047439251.1:c.943C>T, XM_047439244.1:c.943C>A, XM_047439244.1:c.943C>G, XM_047439244.1:c.943C>T, XM_047439245.1:c.943C>A, XM_047439245.1:c.943C>G, XM_047439245.1:c.943C>T, XM_047439246.1:c.943C>A, XM_047439246.1:c.943C>G, XM_047439246.1:c.943C>T, XM_047439249.1:c.943C>A, XM_047439249.1:c.943C>G, XM_047439249.1:c.943C>T, XM_047439247.1:c.943C>A, XM_047439247.1:c.943C>G, XM_047439247.1:c.943C>T, XM_047439250.1:c.943C>A, XM_047439250.1:c.943C>G, XM_047439250.1:c.943C>T, NP_003063.2:p.Pro315Thr, NP_003063.2:p.Pro315Ala, NP_003063.2:p.Pro315Ser, NP_001122319.1:p.Pro315Thr, NP_001122319.1:p.Pro315Ala, NP_001122319.1:p.Pro315Ser, NP_001122321.1:p.Pro315Thr, NP_001122321.1:p.Pro315Ala, NP_001122321.1:p.Pro315Ser, NP_001122316.1:p.Pro315Thr, NP_001122316.1:p.Pro315Ala, NP_001122316.1:p.Pro315Ser, NP_001122317.1:p.Pro315Thr, NP_001122317.1:p.Pro315Ala, NP_001122317.1:p.Pro315Ser, NP_001122318.1:p.Pro315Thr, NP_001122318.1:p.Pro315Ala, NP_001122318.1:p.Pro315Ser, NP_001122320.1:p.Pro315Thr, NP_001122320.1:p.Pro315Ala, NP_001122320.1:p.Pro315Ser, NP_001374212.1:p.Pro315Thr, NP_001374212.1:p.Pro315Ala, NP_001374212.1:p.Pro315Ser, NP_001361386.1:p.Pro315Thr, NP_001361386.1:p.Pro315Ala, NP_001361386.1:p.Pro315Ser, XP_006722909.1:p.Pro315Thr, XP_006722909.1:p.Pro315Ala, XP_006722909.1:p.Pro315Ser, XP_011526500.1:p.Pro315Thr, XP_011526500.1:p.Pro315Ala, XP_011526500.1:p.Pro315Ser, XP_024307426.1:p.Pro315Thr, XP_024307426.1:p.Pro315Ala, XP_024307426.1:p.Pro315Ser, XP_024307429.1:p.Pro315Thr, XP_024307429.1:p.Pro315Ala, XP_024307429.1:p.Pro315Ser, XP_024307431.1:p.Pro315Thr, XP_024307431.1:p.Pro315Ala, XP_024307431.1:p.Pro315Ser, XP_024307435.1:p.Pro315Thr, XP_024307435.1:p.Pro315Ala, XP_024307435.1:p.Pro315Ser, XP_047295199.1:p.Pro315Thr, XP_047295199.1:p.Pro315Ala, XP_047295199.1:p.Pro315Ser, XP_047295204.1:p.Pro315Thr, XP_047295204.1:p.Pro315Ala, XP_047295204.1:p.Pro315Ser, XP_047295207.1:p.Pro315Thr, XP_047295207.1:p.Pro315Ala, XP_047295207.1:p.Pro315Ser, XP_047295200.1:p.Pro315Thr, XP_047295200.1:p.Pro315Ala, XP_047295200.1:p.Pro315Ser, XP_047295201.1:p.Pro315Thr, XP_047295201.1:p.Pro315Ala, XP_047295201.1:p.Pro315Ser, XP_047295202.1:p.Pro315Thr, XP_047295202.1:p.Pro315Ala, XP_047295202.1:p.Pro315Ser, XP_047295205.1:p.Pro315Thr, XP_047295205.1:p.Pro315Ala, XP_047295205.1:p.Pro315Ser, XP_047295203.1:p.Pro315Thr, XP_047295203.1:p.Pro315Ala, XP_047295203.1:p.Pro315Ser, XP_047295206.1:p.Pro315Thr, XP_047295206.1:p.Pro315Ala, XP_047295206.1:p.Pro315Ser

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