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Items: 1 to 20 of 290

1.

rs1484527633 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    11:22812007 (GRCh38)
    11:22833553 (GRCh37)
    Canonical SPDI:
    NC_000011.10:22812006:A:G
    Gene:
    GAS2 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.22812007A>G, NC_000011.9:g.22833553A>G, NM_005256.5:c.933A>G, NM_005256.4:c.933A>G, NM_005256.3:c.933A>G, XM_011519972.4:c.987A>G, XM_011519972.3:c.987A>G, XM_011519972.2:c.987A>G, XM_011519972.1:c.987A>G, XM_011519971.4:c.987A>G, XM_011519971.3:c.987A>G, XM_011519971.2:c.987A>G, XM_011519971.1:c.987A>G, NM_177553.4:c.933A>G, NM_177553.3:c.933A>G, NM_177553.2:c.933A>G, NM_001351224.3:c.*229A>G, NM_001351224.2:c.*229A>G, NM_001351224.1:c.*229A>G, NM_001143830.3:c.933A>G, NM_001143830.2:c.933A>G, NM_001143830.1:c.933A>G, NR_147085.2:n.1645A>G, NR_147085.1:n.1377A>G, XM_047426745.1:c.987A>G, XM_047426746.1:c.933A>G, XM_047426744.1:c.987A>G, NM_001391934.1:c.933A>G, XM_047426747.1:c.933A>G, NM_001391933.1:c.987A>G, NM_001391936.1:c.933A>G, NM_001391935.1:c.933A>G, NM_001391937.1:c.933A>G

    2.

    rs1479270310 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      11:22685722 (GRCh38)
      11:22707268 (GRCh37)
      Canonical SPDI:
      NC_000011.10:22685721:T:C
      Gene:
      GAS2 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000011.10:g.22685722T>C, NC_000011.9:g.22707268T>C, NM_005256.5:c.200T>C, NM_005256.4:c.200T>C, NM_005256.3:c.200T>C, XM_011519972.4:c.200T>C, XM_011519972.3:c.200T>C, XM_011519972.2:c.200T>C, XM_011519972.1:c.200T>C, XM_011519971.4:c.200T>C, XM_011519971.3:c.200T>C, XM_011519971.2:c.200T>C, XM_011519971.1:c.200T>C, NM_177553.4:c.200T>C, NM_177553.3:c.200T>C, NM_177553.2:c.200T>C, NM_001351224.3:c.200T>C, NM_001351224.2:c.200T>C, NM_001351224.1:c.200T>C, NM_001143830.3:c.200T>C, NM_001143830.2:c.200T>C, NM_001143830.1:c.200T>C, XM_017017532.2:c.200T>C, XM_017017532.1:c.200T>C, NR_147085.2:n.804T>C, NR_147085.1:n.536T>C, XR_001747829.2:n.296T>C, XR_001747829.1:n.506T>C, XM_011519975.2:c.200T>C, XM_011519975.1:c.200T>C, XM_047426745.1:c.200T>C, XR_007062473.1:n.296T>C, XM_047426750.1:c.200T>C, XM_047426749.1:c.200T>C, XM_047426746.1:c.200T>C, XM_047426748.1:c.200T>C, XM_047426744.1:c.200T>C, NM_001391934.1:c.200T>C, XM_047426747.1:c.200T>C, NM_001391933.1:c.200T>C, NM_001391936.1:c.200T>C, NM_001391935.1:c.200T>C, NM_001391937.1:c.200T>C, XR_007062472.1:n.509T>C, NP_005247.1:p.Leu67Pro, XP_011518274.1:p.Leu67Pro, XP_011518273.1:p.Leu67Pro, NP_808221.1:p.Leu67Pro, NP_001338153.1:p.Leu67Pro, NP_001137302.1:p.Leu67Pro, XP_016873021.1:p.Leu67Pro, XP_011518277.1:p.Leu67Pro, XP_047282701.1:p.Leu67Pro, XP_047282706.1:p.Leu67Pro, XP_047282705.1:p.Leu67Pro, XP_047282702.1:p.Leu67Pro, XP_047282704.1:p.Leu67Pro, XP_047282700.1:p.Leu67Pro, NP_001378863.1:p.Leu67Pro, XP_047282703.1:p.Leu67Pro, NP_001378862.1:p.Leu67Pro, NP_001378865.1:p.Leu67Pro, NP_001378864.1:p.Leu67Pro, NP_001378866.1:p.Leu67Pro

      3.

      rs1474996741 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        11:22755848 (GRCh38)
        11:22777394 (GRCh37)
        Canonical SPDI:
        NC_000011.10:22755847:G:T
        Gene:
        GAS2 (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000011.10:g.22755848G>T, NC_000011.9:g.22777394G>T, NM_005256.5:c.618G>T, NM_005256.4:c.618G>T, NM_005256.3:c.618G>T, XM_011519972.4:c.618G>T, XM_011519972.3:c.618G>T, XM_011519972.2:c.618G>T, XM_011519972.1:c.618G>T, XM_011519971.4:c.618G>T, XM_011519971.3:c.618G>T, XM_011519971.2:c.618G>T, XM_011519971.1:c.618G>T, NM_177553.4:c.618G>T, NM_177553.3:c.618G>T, NM_177553.2:c.618G>T, NM_001351224.3:c.618G>T, NM_001351224.2:c.618G>T, NM_001351224.1:c.618G>T, NM_001143830.3:c.618G>T, NM_001143830.2:c.618G>T, NM_001143830.1:c.618G>T, XM_017017532.2:c.618G>T, XM_017017532.1:c.618G>T, NR_147085.2:n.1222G>T, NR_147085.1:n.954G>T, XR_001747829.2:n.714G>T, XR_001747829.1:n.924G>T, XM_011519975.2:c.618G>T, XM_011519975.1:c.618G>T, XM_047426745.1:c.618G>T, XR_007062473.1:n.714G>T, XM_047426750.1:c.618G>T, XM_047426749.1:c.618G>T, XM_047426746.1:c.618G>T, XM_047426748.1:c.618G>T, XM_047426744.1:c.618G>T, NM_001391934.1:c.618G>T, XM_047426747.1:c.618G>T, NM_001391933.1:c.618G>T, NM_001391936.1:c.618G>T, NM_001391935.1:c.618G>T, NM_001391937.1:c.618G>T, XR_007062472.1:n.927G>T

        4.

        rs1461894722 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          11:22755883 (GRCh38)
          11:22777429 (GRCh37)
          Canonical SPDI:
          NC_000011.10:22755882:C:T
          Gene:
          GAS2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000094/1 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000011.10:g.22755883C>T, NC_000011.9:g.22777429C>T, NM_005256.5:c.653C>T, NM_005256.4:c.653C>T, NM_005256.3:c.653C>T, XM_011519972.4:c.653C>T, XM_011519972.3:c.653C>T, XM_011519972.2:c.653C>T, XM_011519972.1:c.653C>T, XM_011519971.4:c.653C>T, XM_011519971.3:c.653C>T, XM_011519971.2:c.653C>T, XM_011519971.1:c.653C>T, NM_177553.4:c.653C>T, NM_177553.3:c.653C>T, NM_177553.2:c.653C>T, NM_001351224.3:c.653C>T, NM_001351224.2:c.653C>T, NM_001351224.1:c.653C>T, NM_001143830.3:c.653C>T, NM_001143830.2:c.653C>T, NM_001143830.1:c.653C>T, XM_017017532.2:c.653C>T, XM_017017532.1:c.653C>T, NR_147085.2:n.1257C>T, NR_147085.1:n.989C>T, XR_001747829.2:n.749C>T, XR_001747829.1:n.959C>T, XM_011519975.2:c.653C>T, XM_011519975.1:c.653C>T, XM_047426745.1:c.653C>T, XR_007062473.1:n.749C>T, XM_047426750.1:c.653C>T, XM_047426749.1:c.653C>T, XM_047426746.1:c.653C>T, XM_047426748.1:c.653C>T, XM_047426744.1:c.653C>T, NM_001391934.1:c.653C>T, XM_047426747.1:c.653C>T, NM_001391933.1:c.653C>T, NM_001391936.1:c.653C>T, NM_001391935.1:c.653C>T, NM_001391937.1:c.653C>T, XR_007062472.1:n.962C>T, NP_005247.1:p.Pro218Leu, XP_011518274.1:p.Pro218Leu, XP_011518273.1:p.Pro218Leu, NP_808221.1:p.Pro218Leu, NP_001338153.1:p.Pro218Leu, NP_001137302.1:p.Pro218Leu, XP_016873021.1:p.Pro218Leu, XP_011518277.1:p.Pro218Leu, XP_047282701.1:p.Pro218Leu, XP_047282706.1:p.Pro218Leu, XP_047282705.1:p.Pro218Leu, XP_047282702.1:p.Pro218Leu, XP_047282704.1:p.Pro218Leu, XP_047282700.1:p.Pro218Leu, NP_001378863.1:p.Pro218Leu, XP_047282703.1:p.Pro218Leu, NP_001378862.1:p.Pro218Leu, NP_001378865.1:p.Pro218Leu, NP_001378864.1:p.Pro218Leu, NP_001378866.1:p.Pro218Leu

          5.

          rs1458782485 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            11:22749122 (GRCh38)
            11:22770668 (GRCh37)
            Canonical SPDI:
            NC_000011.10:22749121:A:G
            Gene:
            GAS2 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,non_coding_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000011.10:g.22749122A>G, NC_000011.9:g.22770668A>G, NM_005256.5:c.476A>G, NM_005256.4:c.476A>G, NM_005256.3:c.476A>G, XM_011519972.4:c.476A>G, XM_011519972.3:c.476A>G, XM_011519972.2:c.476A>G, XM_011519972.1:c.476A>G, XM_011519971.4:c.476A>G, XM_011519971.3:c.476A>G, XM_011519971.2:c.476A>G, XM_011519971.1:c.476A>G, NM_177553.4:c.476A>G, NM_177553.3:c.476A>G, NM_177553.2:c.476A>G, NM_001351224.3:c.476A>G, NM_001351224.2:c.476A>G, NM_001351224.1:c.476A>G, NM_001143830.3:c.476A>G, NM_001143830.2:c.476A>G, NM_001143830.1:c.476A>G, XM_017017532.2:c.476A>G, XM_017017532.1:c.476A>G, NR_147085.2:n.1080A>G, NR_147085.1:n.812A>G, XR_001747829.2:n.572A>G, XR_001747829.1:n.782A>G, XM_011519975.2:c.476A>G, XM_011519975.1:c.476A>G, XM_047426745.1:c.476A>G, XR_007062473.1:n.572A>G, XM_047426750.1:c.476A>G, XM_047426749.1:c.476A>G, XM_047426746.1:c.476A>G, XM_047426748.1:c.476A>G, XM_047426744.1:c.476A>G, NM_001391934.1:c.476A>G, XM_047426747.1:c.476A>G, NM_001391933.1:c.476A>G, NM_001391936.1:c.476A>G, NM_001391935.1:c.476A>G, NM_001391937.1:c.476A>G, XR_007062472.1:n.785A>G, NP_005247.1:p.Tyr159Cys, XP_011518274.1:p.Tyr159Cys, XP_011518273.1:p.Tyr159Cys, NP_808221.1:p.Tyr159Cys, NP_001338153.1:p.Tyr159Cys, NP_001137302.1:p.Tyr159Cys, XP_016873021.1:p.Tyr159Cys, XP_011518277.1:p.Tyr159Cys, XP_047282701.1:p.Tyr159Cys, XP_047282706.1:p.Tyr159Cys, XP_047282705.1:p.Tyr159Cys, XP_047282702.1:p.Tyr159Cys, XP_047282704.1:p.Tyr159Cys, XP_047282700.1:p.Tyr159Cys, NP_001378863.1:p.Tyr159Cys, XP_047282703.1:p.Tyr159Cys, NP_001378862.1:p.Tyr159Cys, NP_001378865.1:p.Tyr159Cys, NP_001378864.1:p.Tyr159Cys, NP_001378866.1:p.Tyr159Cys

            6.

            rs1455376461 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              11:22726420 (GRCh38)
              11:22747966 (GRCh37)
              Canonical SPDI:
              NC_000011.10:22726419:A:G
              Gene:
              GAS2 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000004/1 (GnomAD_exomes)
              G=0.000007/1 (GnomAD)
              HGVS:
              NC_000011.10:g.22726420A>G, NC_000011.9:g.22747966A>G, NM_005256.5:c.396A>G, NM_005256.4:c.396A>G, NM_005256.3:c.396A>G, XM_011519972.4:c.396A>G, XM_011519972.3:c.396A>G, XM_011519972.2:c.396A>G, XM_011519972.1:c.396A>G, XM_011519971.4:c.396A>G, XM_011519971.3:c.396A>G, XM_011519971.2:c.396A>G, XM_011519971.1:c.396A>G, NM_177553.4:c.396A>G, NM_177553.3:c.396A>G, NM_177553.2:c.396A>G, NM_001351224.3:c.396A>G, NM_001351224.2:c.396A>G, NM_001351224.1:c.396A>G, NM_001143830.3:c.396A>G, NM_001143830.2:c.396A>G, NM_001143830.1:c.396A>G, XM_017017532.2:c.396A>G, XM_017017532.1:c.396A>G, NR_147085.2:n.1000A>G, NR_147085.1:n.732A>G, XR_001747829.2:n.492A>G, XR_001747829.1:n.702A>G, XM_011519975.2:c.396A>G, XM_011519975.1:c.396A>G, XM_047426745.1:c.396A>G, XR_007062473.1:n.492A>G, XM_047426750.1:c.396A>G, XM_047426749.1:c.396A>G, XM_047426746.1:c.396A>G, XM_047426748.1:c.396A>G, XM_047426744.1:c.396A>G, NM_001391934.1:c.396A>G, XM_047426747.1:c.396A>G, NM_001391933.1:c.396A>G, NM_001391936.1:c.396A>G, NM_001391935.1:c.396A>G, NM_001391937.1:c.396A>G, XR_007062472.1:n.705A>G

              7.

              rs1455331890 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                11:22726348 (GRCh38)
                11:22747894 (GRCh37)
                Canonical SPDI:
                NC_000011.10:22726347:T:G
                Gene:
                GAS2 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000094/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000011.10:g.22726348T>G, NC_000011.9:g.22747894T>G, NM_005256.5:c.324T>G, NM_005256.4:c.324T>G, NM_005256.3:c.324T>G, XM_011519972.4:c.324T>G, XM_011519972.3:c.324T>G, XM_011519972.2:c.324T>G, XM_011519972.1:c.324T>G, XM_011519971.4:c.324T>G, XM_011519971.3:c.324T>G, XM_011519971.2:c.324T>G, XM_011519971.1:c.324T>G, NM_177553.4:c.324T>G, NM_177553.3:c.324T>G, NM_177553.2:c.324T>G, NM_001351224.3:c.324T>G, NM_001351224.2:c.324T>G, NM_001351224.1:c.324T>G, NM_001143830.3:c.324T>G, NM_001143830.2:c.324T>G, NM_001143830.1:c.324T>G, XM_017017532.2:c.324T>G, XM_017017532.1:c.324T>G, NR_147085.2:n.928T>G, NR_147085.1:n.660T>G, XR_001747829.2:n.420T>G, XR_001747829.1:n.630T>G, XM_011519975.2:c.324T>G, XM_011519975.1:c.324T>G, XM_047426745.1:c.324T>G, XR_007062473.1:n.420T>G, XM_047426750.1:c.324T>G, XM_047426749.1:c.324T>G, XM_047426746.1:c.324T>G, XM_047426748.1:c.324T>G, XM_047426744.1:c.324T>G, NM_001391934.1:c.324T>G, XM_047426747.1:c.324T>G, NM_001391933.1:c.324T>G, NM_001391936.1:c.324T>G, NM_001391935.1:c.324T>G, NM_001391937.1:c.324T>G, XR_007062472.1:n.633T>G, NP_005247.1:p.Phe108Leu, XP_011518274.1:p.Phe108Leu, XP_011518273.1:p.Phe108Leu, NP_808221.1:p.Phe108Leu, NP_001338153.1:p.Phe108Leu, NP_001137302.1:p.Phe108Leu, XP_016873021.1:p.Phe108Leu, XP_011518277.1:p.Phe108Leu, XP_047282701.1:p.Phe108Leu, XP_047282706.1:p.Phe108Leu, XP_047282705.1:p.Phe108Leu, XP_047282702.1:p.Phe108Leu, XP_047282704.1:p.Phe108Leu, XP_047282700.1:p.Phe108Leu, NP_001378863.1:p.Phe108Leu, XP_047282703.1:p.Phe108Leu, NP_001378862.1:p.Phe108Leu, NP_001378865.1:p.Phe108Leu, NP_001378864.1:p.Phe108Leu, NP_001378866.1:p.Phe108Leu

                8.

                rs1450356840 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A [Show Flanks]
                  Chromosome:
                  11:22811945 (GRCh38)
                  11:22833491 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:22811944:C:A
                  Gene:
                  GAS2 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0.0001/1 (ALFA)
                  HGVS:
                  NC_000011.10:g.22811945C>A, NC_000011.9:g.22833491C>A, NM_005256.5:c.871C>A, NM_005256.4:c.871C>A, NM_005256.3:c.871C>A, XM_011519972.4:c.925C>A, XM_011519972.3:c.925C>A, XM_011519972.2:c.925C>A, XM_011519972.1:c.925C>A, XM_011519971.4:c.925C>A, XM_011519971.3:c.925C>A, XM_011519971.2:c.925C>A, XM_011519971.1:c.925C>A, NM_177553.4:c.871C>A, NM_177553.3:c.871C>A, NM_177553.2:c.871C>A, NM_001351224.3:c.*167C>A, NM_001351224.2:c.*167C>A, NM_001351224.1:c.*167C>A, NM_001143830.3:c.871C>A, NM_001143830.2:c.871C>A, NM_001143830.1:c.871C>A, NR_147085.2:n.1583C>A, NR_147085.1:n.1315C>A, XM_047426745.1:c.925C>A, XM_047426746.1:c.871C>A, XM_047426744.1:c.925C>A, NM_001391934.1:c.871C>A, XM_047426747.1:c.871C>A, NM_001391933.1:c.925C>A, NM_001391936.1:c.871C>A, NM_001391935.1:c.871C>A, NM_001391937.1:c.871C>A, NP_005247.1:p.Leu291Ile, XP_011518274.1:p.Leu309Ile, XP_011518273.1:p.Leu309Ile, NP_808221.1:p.Leu291Ile, NP_001137302.1:p.Leu291Ile, XP_047282701.1:p.Leu309Ile, XP_047282702.1:p.Leu291Ile, XP_047282700.1:p.Leu309Ile, NP_001378863.1:p.Leu291Ile, XP_047282703.1:p.Leu291Ile, NP_001378862.1:p.Leu309Ile, NP_001378865.1:p.Leu291Ile, NP_001378864.1:p.Leu291Ile, NP_001378866.1:p.Leu291Ile

                  9.

                  rs1449021463 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    11:22811969 (GRCh38)
                    11:22833515 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:22811968:T:C
                    Gene:
                    GAS2 (Varview)
                    Functional Consequence:
                    intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000011.10:g.22811969T>C, NC_000011.9:g.22833515T>C, NM_005256.5:c.895T>C, NM_005256.4:c.895T>C, NM_005256.3:c.895T>C, XM_011519972.4:c.949T>C, XM_011519972.3:c.949T>C, XM_011519972.2:c.949T>C, XM_011519972.1:c.949T>C, XM_011519971.4:c.949T>C, XM_011519971.3:c.949T>C, XM_011519971.2:c.949T>C, XM_011519971.1:c.949T>C, NM_177553.4:c.895T>C, NM_177553.3:c.895T>C, NM_177553.2:c.895T>C, NM_001351224.3:c.*191T>C, NM_001351224.2:c.*191T>C, NM_001351224.1:c.*191T>C, NM_001143830.3:c.895T>C, NM_001143830.2:c.895T>C, NM_001143830.1:c.895T>C, NR_147085.2:n.1607T>C, NR_147085.1:n.1339T>C, XM_047426745.1:c.949T>C, XM_047426746.1:c.895T>C, XM_047426744.1:c.949T>C, NM_001391934.1:c.895T>C, XM_047426747.1:c.895T>C, NM_001391933.1:c.949T>C, NM_001391936.1:c.895T>C, NM_001391935.1:c.895T>C, NM_001391937.1:c.895T>C, NP_005247.1:p.Tyr299His, XP_011518274.1:p.Tyr317His, XP_011518273.1:p.Tyr317His, NP_808221.1:p.Tyr299His, NP_001137302.1:p.Tyr299His, XP_047282701.1:p.Tyr317His, XP_047282702.1:p.Tyr299His, XP_047282700.1:p.Tyr317His, NP_001378863.1:p.Tyr299His, XP_047282703.1:p.Tyr299His, NP_001378862.1:p.Tyr317His, NP_001378865.1:p.Tyr299His, NP_001378864.1:p.Tyr299His, NP_001378866.1:p.Tyr299His

                    10.

                    rs1446441127 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      11:22726327 (GRCh38)
                      11:22747873 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:22726326:T:C,NC_000011.10:22726326:T:G
                      Gene:
                      GAS2 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000011.10:g.22726327T>C, NC_000011.10:g.22726327T>G, NC_000011.9:g.22747873T>C, NC_000011.9:g.22747873T>G, NM_005256.5:c.303T>C, NM_005256.5:c.303T>G, NM_005256.4:c.303T>C, NM_005256.4:c.303T>G, NM_005256.3:c.303T>C, NM_005256.3:c.303T>G, XM_011519972.4:c.303T>C, XM_011519972.4:c.303T>G, XM_011519972.3:c.303T>C, XM_011519972.3:c.303T>G, XM_011519972.2:c.303T>C, XM_011519972.2:c.303T>G, XM_011519972.1:c.303T>C, XM_011519972.1:c.303T>G, XM_011519971.4:c.303T>C, XM_011519971.4:c.303T>G, XM_011519971.3:c.303T>C, XM_011519971.3:c.303T>G, XM_011519971.2:c.303T>C, XM_011519971.2:c.303T>G, XM_011519971.1:c.303T>C, XM_011519971.1:c.303T>G, NM_177553.4:c.303T>C, NM_177553.4:c.303T>G, NM_177553.3:c.303T>C, NM_177553.3:c.303T>G, NM_177553.2:c.303T>C, NM_177553.2:c.303T>G, NM_001351224.3:c.303T>C, NM_001351224.3:c.303T>G, NM_001351224.2:c.303T>C, NM_001351224.2:c.303T>G, NM_001351224.1:c.303T>C, NM_001351224.1:c.303T>G, NM_001143830.3:c.303T>C, NM_001143830.3:c.303T>G, NM_001143830.2:c.303T>C, NM_001143830.2:c.303T>G, NM_001143830.1:c.303T>C, NM_001143830.1:c.303T>G, XM_017017532.2:c.303T>C, XM_017017532.2:c.303T>G, XM_017017532.1:c.303T>C, XM_017017532.1:c.303T>G, NR_147085.2:n.907T>C, NR_147085.2:n.907T>G, NR_147085.1:n.639T>C, NR_147085.1:n.639T>G, XR_001747829.2:n.399T>C, XR_001747829.2:n.399T>G, XR_001747829.1:n.609T>C, XR_001747829.1:n.609T>G, XM_011519975.2:c.303T>C, XM_011519975.2:c.303T>G, XM_011519975.1:c.303T>C, XM_011519975.1:c.303T>G, XM_047426745.1:c.303T>C, XM_047426745.1:c.303T>G, XR_007062473.1:n.399T>C, XR_007062473.1:n.399T>G, XM_047426750.1:c.303T>C, XM_047426750.1:c.303T>G, XM_047426749.1:c.303T>C, XM_047426749.1:c.303T>G, XM_047426746.1:c.303T>C, XM_047426746.1:c.303T>G, XM_047426748.1:c.303T>C, XM_047426748.1:c.303T>G, XM_047426744.1:c.303T>C, XM_047426744.1:c.303T>G, NM_001391934.1:c.303T>C, NM_001391934.1:c.303T>G, XM_047426747.1:c.303T>C, XM_047426747.1:c.303T>G, NM_001391933.1:c.303T>C, NM_001391933.1:c.303T>G, NM_001391936.1:c.303T>C, NM_001391936.1:c.303T>G, NM_001391935.1:c.303T>C, NM_001391935.1:c.303T>G, NM_001391937.1:c.303T>C, NM_001391937.1:c.303T>G, XR_007062472.1:n.612T>C, XR_007062472.1:n.612T>G, NP_005247.1:p.Ser101Arg, XP_011518274.1:p.Ser101Arg, XP_011518273.1:p.Ser101Arg, NP_808221.1:p.Ser101Arg, NP_001338153.1:p.Ser101Arg, NP_001137302.1:p.Ser101Arg, XP_016873021.1:p.Ser101Arg, XP_011518277.1:p.Ser101Arg, XP_047282701.1:p.Ser101Arg, XP_047282706.1:p.Ser101Arg, XP_047282705.1:p.Ser101Arg, XP_047282702.1:p.Ser101Arg, XP_047282704.1:p.Ser101Arg, XP_047282700.1:p.Ser101Arg, NP_001378863.1:p.Ser101Arg, XP_047282703.1:p.Ser101Arg, NP_001378862.1:p.Ser101Arg, NP_001378865.1:p.Ser101Arg, NP_001378864.1:p.Ser101Arg, NP_001378866.1:p.Ser101Arg

                      11.

                      rs1444799551 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>G [Show Flanks]
                        Chromosome:
                        11:22737705 (GRCh38)
                        11:22759251 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:22737704:T:G
                        Gene:
                        GAS2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000011.10:g.22737705T>G, NC_000011.9:g.22759251T>G, NM_005256.5:c.410T>G, NM_005256.4:c.410T>G, NM_005256.3:c.410T>G, XM_011519972.4:c.410T>G, XM_011519972.3:c.410T>G, XM_011519972.2:c.410T>G, XM_011519972.1:c.410T>G, XM_011519971.4:c.410T>G, XM_011519971.3:c.410T>G, XM_011519971.2:c.410T>G, XM_011519971.1:c.410T>G, NM_177553.4:c.410T>G, NM_177553.3:c.410T>G, NM_177553.2:c.410T>G, NM_001351224.3:c.410T>G, NM_001351224.2:c.410T>G, NM_001351224.1:c.410T>G, NM_001143830.3:c.410T>G, NM_001143830.2:c.410T>G, NM_001143830.1:c.410T>G, XM_017017532.2:c.410T>G, XM_017017532.1:c.410T>G, NR_147085.2:n.1014T>G, NR_147085.1:n.746T>G, XR_001747829.2:n.506T>G, XR_001747829.1:n.716T>G, XM_011519975.2:c.410T>G, XM_011519975.1:c.410T>G, XM_047426745.1:c.410T>G, XR_007062473.1:n.506T>G, XM_047426750.1:c.410T>G, XM_047426749.1:c.410T>G, XM_047426746.1:c.410T>G, XM_047426748.1:c.410T>G, XM_047426744.1:c.410T>G, NM_001391934.1:c.410T>G, XM_047426747.1:c.410T>G, NM_001391933.1:c.410T>G, NM_001391936.1:c.410T>G, NM_001391935.1:c.410T>G, NM_001391937.1:c.410T>G, XR_007062472.1:n.719T>G, NP_005247.1:p.Val137Gly, XP_011518274.1:p.Val137Gly, XP_011518273.1:p.Val137Gly, NP_808221.1:p.Val137Gly, NP_001338153.1:p.Val137Gly, NP_001137302.1:p.Val137Gly, XP_016873021.1:p.Val137Gly, XP_011518277.1:p.Val137Gly, XP_047282701.1:p.Val137Gly, XP_047282706.1:p.Val137Gly, XP_047282705.1:p.Val137Gly, XP_047282702.1:p.Val137Gly, XP_047282704.1:p.Val137Gly, XP_047282700.1:p.Val137Gly, NP_001378863.1:p.Val137Gly, XP_047282703.1:p.Val137Gly, NP_001378862.1:p.Val137Gly, NP_001378865.1:p.Val137Gly, NP_001378864.1:p.Val137Gly, NP_001378866.1:p.Val137Gly

                        12.

                        rs1441322956 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G,T [Show Flanks]
                          Chromosome:
                          11:22749133 (GRCh38)
                          11:22770679 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:22749132:C:A,NC_000011.10:22749132:C:G,NC_000011.10:22749132:C:T
                          Gene:
                          GAS2 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000011.10:g.22749133C>A, NC_000011.10:g.22749133C>G, NC_000011.10:g.22749133C>T, NC_000011.9:g.22770679C>A, NC_000011.9:g.22770679C>G, NC_000011.9:g.22770679C>T, NM_005256.5:c.487C>A, NM_005256.5:c.487C>G, NM_005256.5:c.487C>T, NM_005256.4:c.487C>A, NM_005256.4:c.487C>G, NM_005256.4:c.487C>T, NM_005256.3:c.487C>A, NM_005256.3:c.487C>G, NM_005256.3:c.487C>T, XM_011519972.4:c.487C>A, XM_011519972.4:c.487C>G, XM_011519972.4:c.487C>T, XM_011519972.3:c.487C>A, XM_011519972.3:c.487C>G, XM_011519972.3:c.487C>T, XM_011519972.2:c.487C>A, XM_011519972.2:c.487C>G, XM_011519972.2:c.487C>T, XM_011519972.1:c.487C>A, XM_011519972.1:c.487C>G, XM_011519972.1:c.487C>T, XM_011519971.4:c.487C>A, XM_011519971.4:c.487C>G, XM_011519971.4:c.487C>T, XM_011519971.3:c.487C>A, XM_011519971.3:c.487C>G, XM_011519971.3:c.487C>T, XM_011519971.2:c.487C>A, XM_011519971.2:c.487C>G, XM_011519971.2:c.487C>T, XM_011519971.1:c.487C>A, XM_011519971.1:c.487C>G, XM_011519971.1:c.487C>T, NM_177553.4:c.487C>A, NM_177553.4:c.487C>G, NM_177553.4:c.487C>T, NM_177553.3:c.487C>A, NM_177553.3:c.487C>G, NM_177553.3:c.487C>T, NM_177553.2:c.487C>A, NM_177553.2:c.487C>G, NM_177553.2:c.487C>T, NM_001351224.3:c.487C>A, NM_001351224.3:c.487C>G, NM_001351224.3:c.487C>T, NM_001351224.2:c.487C>A, NM_001351224.2:c.487C>G, NM_001351224.2:c.487C>T, NM_001351224.1:c.487C>A, NM_001351224.1:c.487C>G, NM_001351224.1:c.487C>T, NM_001143830.3:c.487C>A, NM_001143830.3:c.487C>G, NM_001143830.3:c.487C>T, NM_001143830.2:c.487C>A, NM_001143830.2:c.487C>G, NM_001143830.2:c.487C>T, NM_001143830.1:c.487C>A, NM_001143830.1:c.487C>G, NM_001143830.1:c.487C>T, XM_017017532.2:c.487C>A, XM_017017532.2:c.487C>G, XM_017017532.2:c.487C>T, XM_017017532.1:c.487C>A, XM_017017532.1:c.487C>G, XM_017017532.1:c.487C>T, NR_147085.2:n.1091C>A, NR_147085.2:n.1091C>G, NR_147085.2:n.1091C>T, NR_147085.1:n.823C>A, NR_147085.1:n.823C>G, NR_147085.1:n.823C>T, XR_001747829.2:n.583C>A, XR_001747829.2:n.583C>G, XR_001747829.2:n.583C>T, XR_001747829.1:n.793C>A, XR_001747829.1:n.793C>G, XR_001747829.1:n.793C>T, XM_011519975.2:c.487C>A, XM_011519975.2:c.487C>G, XM_011519975.2:c.487C>T, XM_011519975.1:c.487C>A, XM_011519975.1:c.487C>G, XM_011519975.1:c.487C>T, XM_047426745.1:c.487C>A, XM_047426745.1:c.487C>G, XM_047426745.1:c.487C>T, XR_007062473.1:n.583C>A, XR_007062473.1:n.583C>G, XR_007062473.1:n.583C>T, XM_047426750.1:c.487C>A, XM_047426750.1:c.487C>G, XM_047426750.1:c.487C>T, XM_047426749.1:c.487C>A, XM_047426749.1:c.487C>G, XM_047426749.1:c.487C>T, XM_047426746.1:c.487C>A, XM_047426746.1:c.487C>G, XM_047426746.1:c.487C>T, XM_047426748.1:c.487C>A, XM_047426748.1:c.487C>G, XM_047426748.1:c.487C>T, XM_047426744.1:c.487C>A, XM_047426744.1:c.487C>G, XM_047426744.1:c.487C>T, NM_001391934.1:c.487C>A, NM_001391934.1:c.487C>G, NM_001391934.1:c.487C>T, XM_047426747.1:c.487C>A, XM_047426747.1:c.487C>G, XM_047426747.1:c.487C>T, NM_001391933.1:c.487C>A, NM_001391933.1:c.487C>G, NM_001391933.1:c.487C>T, NM_001391936.1:c.487C>A, NM_001391936.1:c.487C>G, NM_001391936.1:c.487C>T, NM_001391935.1:c.487C>A, NM_001391935.1:c.487C>G, NM_001391935.1:c.487C>T, NM_001391937.1:c.487C>A, NM_001391937.1:c.487C>G, NM_001391937.1:c.487C>T, XR_007062472.1:n.796C>A, XR_007062472.1:n.796C>G, XR_007062472.1:n.796C>T, NP_005247.1:p.Pro163Thr, NP_005247.1:p.Pro163Ala, NP_005247.1:p.Pro163Ser, XP_011518274.1:p.Pro163Thr, XP_011518274.1:p.Pro163Ala, XP_011518274.1:p.Pro163Ser, XP_011518273.1:p.Pro163Thr, XP_011518273.1:p.Pro163Ala, XP_011518273.1:p.Pro163Ser, NP_808221.1:p.Pro163Thr, NP_808221.1:p.Pro163Ala, NP_808221.1:p.Pro163Ser, NP_001338153.1:p.Pro163Thr, NP_001338153.1:p.Pro163Ala, NP_001338153.1:p.Pro163Ser, NP_001137302.1:p.Pro163Thr, NP_001137302.1:p.Pro163Ala, NP_001137302.1:p.Pro163Ser, XP_016873021.1:p.Pro163Thr, XP_016873021.1:p.Pro163Ala, XP_016873021.1:p.Pro163Ser, XP_011518277.1:p.Pro163Thr, XP_011518277.1:p.Pro163Ala, XP_011518277.1:p.Pro163Ser, XP_047282701.1:p.Pro163Thr, XP_047282701.1:p.Pro163Ala, XP_047282701.1:p.Pro163Ser, XP_047282706.1:p.Pro163Thr, XP_047282706.1:p.Pro163Ala, XP_047282706.1:p.Pro163Ser, XP_047282705.1:p.Pro163Thr, XP_047282705.1:p.Pro163Ala, XP_047282705.1:p.Pro163Ser, XP_047282702.1:p.Pro163Thr, XP_047282702.1:p.Pro163Ala, XP_047282702.1:p.Pro163Ser, XP_047282704.1:p.Pro163Thr, XP_047282704.1:p.Pro163Ala, XP_047282704.1:p.Pro163Ser, XP_047282700.1:p.Pro163Thr, XP_047282700.1:p.Pro163Ala, XP_047282700.1:p.Pro163Ser, NP_001378863.1:p.Pro163Thr, NP_001378863.1:p.Pro163Ala, NP_001378863.1:p.Pro163Ser, XP_047282703.1:p.Pro163Thr, XP_047282703.1:p.Pro163Ala, XP_047282703.1:p.Pro163Ser, NP_001378862.1:p.Pro163Thr, NP_001378862.1:p.Pro163Ala, NP_001378862.1:p.Pro163Ser, NP_001378865.1:p.Pro163Thr, NP_001378865.1:p.Pro163Ala, NP_001378865.1:p.Pro163Ser, NP_001378864.1:p.Pro163Thr, NP_001378864.1:p.Pro163Ala, NP_001378864.1:p.Pro163Ser, NP_001378866.1:p.Pro163Thr, NP_001378866.1:p.Pro163Ala, NP_001378866.1:p.Pro163Ser

                          13.

                          rs1438155513 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C,T [Show Flanks]
                            Chromosome:
                            11:22685669 (GRCh38)
                            11:22707215 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:22685668:G:C,NC_000011.10:22685668:G:T
                            Gene:
                            GAS2 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000011.10:g.22685669G>C, NC_000011.10:g.22685669G>T, NC_000011.9:g.22707215G>C, NC_000011.9:g.22707215G>T, NM_005256.5:c.147G>C, NM_005256.5:c.147G>T, NM_005256.4:c.147G>C, NM_005256.4:c.147G>T, NM_005256.3:c.147G>C, NM_005256.3:c.147G>T, XM_011519972.4:c.147G>C, XM_011519972.4:c.147G>T, XM_011519972.3:c.147G>C, XM_011519972.3:c.147G>T, XM_011519972.2:c.147G>C, XM_011519972.2:c.147G>T, XM_011519972.1:c.147G>C, XM_011519972.1:c.147G>T, XM_011519971.4:c.147G>C, XM_011519971.4:c.147G>T, XM_011519971.3:c.147G>C, XM_011519971.3:c.147G>T, XM_011519971.2:c.147G>C, XM_011519971.2:c.147G>T, XM_011519971.1:c.147G>C, XM_011519971.1:c.147G>T, NM_177553.4:c.147G>C, NM_177553.4:c.147G>T, NM_177553.3:c.147G>C, NM_177553.3:c.147G>T, NM_177553.2:c.147G>C, NM_177553.2:c.147G>T, NM_001351224.3:c.147G>C, NM_001351224.3:c.147G>T, NM_001351224.2:c.147G>C, NM_001351224.2:c.147G>T, NM_001351224.1:c.147G>C, NM_001351224.1:c.147G>T, NM_001143830.3:c.147G>C, NM_001143830.3:c.147G>T, NM_001143830.2:c.147G>C, NM_001143830.2:c.147G>T, NM_001143830.1:c.147G>C, NM_001143830.1:c.147G>T, XM_017017532.2:c.147G>C, XM_017017532.2:c.147G>T, XM_017017532.1:c.147G>C, XM_017017532.1:c.147G>T, NR_147085.2:n.751G>C, NR_147085.2:n.751G>T, NR_147085.1:n.483G>C, NR_147085.1:n.483G>T, XR_001747829.2:n.243G>C, XR_001747829.2:n.243G>T, XR_001747829.1:n.453G>C, XR_001747829.1:n.453G>T, XM_011519975.2:c.147G>C, XM_011519975.2:c.147G>T, XM_011519975.1:c.147G>C, XM_011519975.1:c.147G>T, XM_047426745.1:c.147G>C, XM_047426745.1:c.147G>T, XR_007062473.1:n.243G>C, XR_007062473.1:n.243G>T, XM_047426750.1:c.147G>C, XM_047426750.1:c.147G>T, XM_047426749.1:c.147G>C, XM_047426749.1:c.147G>T, XM_047426746.1:c.147G>C, XM_047426746.1:c.147G>T, XM_047426748.1:c.147G>C, XM_047426748.1:c.147G>T, XM_047426744.1:c.147G>C, XM_047426744.1:c.147G>T, NM_001391934.1:c.147G>C, NM_001391934.1:c.147G>T, XM_047426747.1:c.147G>C, XM_047426747.1:c.147G>T, NM_001391933.1:c.147G>C, NM_001391933.1:c.147G>T, NM_001391936.1:c.147G>C, NM_001391936.1:c.147G>T, NM_001391935.1:c.147G>C, NM_001391935.1:c.147G>T, NM_001391937.1:c.147G>C, NM_001391937.1:c.147G>T, XR_007062472.1:n.456G>C, XR_007062472.1:n.456G>T

                            14.

                            rs1438009115 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              11:22726423 (GRCh38)
                              11:22747969 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:22726422:G:A
                              Gene:
                              GAS2 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              A=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000011.10:g.22726423G>A, NC_000011.9:g.22747969G>A, NM_005256.5:c.399G>A, NM_005256.4:c.399G>A, NM_005256.3:c.399G>A, XM_011519972.4:c.399G>A, XM_011519972.3:c.399G>A, XM_011519972.2:c.399G>A, XM_011519972.1:c.399G>A, XM_011519971.4:c.399G>A, XM_011519971.3:c.399G>A, XM_011519971.2:c.399G>A, XM_011519971.1:c.399G>A, NM_177553.4:c.399G>A, NM_177553.3:c.399G>A, NM_177553.2:c.399G>A, NM_001351224.3:c.399G>A, NM_001351224.2:c.399G>A, NM_001351224.1:c.399G>A, NM_001143830.3:c.399G>A, NM_001143830.2:c.399G>A, NM_001143830.1:c.399G>A, XM_017017532.2:c.399G>A, XM_017017532.1:c.399G>A, NR_147085.2:n.1003G>A, NR_147085.1:n.735G>A, XR_001747829.2:n.495G>A, XR_001747829.1:n.705G>A, XM_011519975.2:c.399G>A, XM_011519975.1:c.399G>A, XM_047426745.1:c.399G>A, XR_007062473.1:n.495G>A, XM_047426750.1:c.399G>A, XM_047426749.1:c.399G>A, XM_047426746.1:c.399G>A, XM_047426748.1:c.399G>A, XM_047426744.1:c.399G>A, NM_001391934.1:c.399G>A, XM_047426747.1:c.399G>A, NM_001391933.1:c.399G>A, NM_001391936.1:c.399G>A, NM_001391935.1:c.399G>A, NM_001391937.1:c.399G>A, XR_007062472.1:n.708G>A

                              15.

                              rs1437066829 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G,T [Show Flanks]
                                Chromosome:
                                11:22755912 (GRCh38)
                                11:22777458 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:22755911:C:G,NC_000011.10:22755911:C:T
                                Gene:
                                GAS2 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000895/4 (ALFA)
                                T=0.000021/3 (GnomAD)
                                G=0.000035/1 (TOMMO)
                                T=0.000893/4 (Estonian)
                                HGVS:
                                NC_000011.10:g.22755912C>G, NC_000011.10:g.22755912C>T, NC_000011.9:g.22777458C>G, NC_000011.9:g.22777458C>T, NM_005256.5:c.682C>G, NM_005256.5:c.682C>T, NM_005256.4:c.682C>G, NM_005256.4:c.682C>T, NM_005256.3:c.682C>G, NM_005256.3:c.682C>T, XM_011519972.4:c.682C>G, XM_011519972.4:c.682C>T, XM_011519972.3:c.682C>G, XM_011519972.3:c.682C>T, XM_011519972.2:c.682C>G, XM_011519972.2:c.682C>T, XM_011519972.1:c.682C>G, XM_011519972.1:c.682C>T, XM_011519971.4:c.682C>G, XM_011519971.4:c.682C>T, XM_011519971.3:c.682C>G, XM_011519971.3:c.682C>T, XM_011519971.2:c.682C>G, XM_011519971.2:c.682C>T, XM_011519971.1:c.682C>G, XM_011519971.1:c.682C>T, NM_177553.4:c.682C>G, NM_177553.4:c.682C>T, NM_177553.3:c.682C>G, NM_177553.3:c.682C>T, NM_177553.2:c.682C>G, NM_177553.2:c.682C>T, NM_001351224.3:c.682C>G, NM_001351224.3:c.682C>T, NM_001351224.2:c.682C>G, NM_001351224.2:c.682C>T, NM_001351224.1:c.682C>G, NM_001351224.1:c.682C>T, NM_001143830.3:c.682C>G, NM_001143830.3:c.682C>T, NM_001143830.2:c.682C>G, NM_001143830.2:c.682C>T, NM_001143830.1:c.682C>G, NM_001143830.1:c.682C>T, XM_017017532.2:c.682C>G, XM_017017532.2:c.682C>T, XM_017017532.1:c.682C>G, XM_017017532.1:c.682C>T, NR_147085.2:n.1286C>G, NR_147085.2:n.1286C>T, NR_147085.1:n.1018C>G, NR_147085.1:n.1018C>T, XR_001747829.2:n.778C>G, XR_001747829.2:n.778C>T, XR_001747829.1:n.988C>G, XR_001747829.1:n.988C>T, XM_011519975.2:c.682C>G, XM_011519975.2:c.682C>T, XM_011519975.1:c.682C>G, XM_011519975.1:c.682C>T, XM_047426745.1:c.682C>G, XM_047426745.1:c.682C>T, XR_007062473.1:n.778C>G, XR_007062473.1:n.778C>T, XM_047426750.1:c.682C>G, XM_047426750.1:c.682C>T, XM_047426749.1:c.682C>G, XM_047426749.1:c.682C>T, XM_047426746.1:c.682C>G, XM_047426746.1:c.682C>T, XM_047426748.1:c.682C>G, XM_047426748.1:c.682C>T, XM_047426744.1:c.682C>G, XM_047426744.1:c.682C>T, NM_001391934.1:c.682C>G, NM_001391934.1:c.682C>T, XM_047426747.1:c.682C>G, XM_047426747.1:c.682C>T, NM_001391933.1:c.682C>G, NM_001391933.1:c.682C>T, NM_001391936.1:c.682C>G, NM_001391936.1:c.682C>T, NM_001391935.1:c.682C>G, NM_001391935.1:c.682C>T, NM_001391937.1:c.682C>G, NM_001391937.1:c.682C>T, XR_007062472.1:n.991C>G, XR_007062472.1:n.991C>T, NP_005247.1:p.Gln228Glu, NP_005247.1:p.Gln228Ter, XP_011518274.1:p.Gln228Glu, XP_011518274.1:p.Gln228Ter, XP_011518273.1:p.Gln228Glu, XP_011518273.1:p.Gln228Ter, NP_808221.1:p.Gln228Glu, NP_808221.1:p.Gln228Ter, NP_001338153.1:p.Gln228Glu, NP_001338153.1:p.Gln228Ter, NP_001137302.1:p.Gln228Glu, NP_001137302.1:p.Gln228Ter, XP_016873021.1:p.Gln228Glu, XP_016873021.1:p.Gln228Ter, XP_011518277.1:p.Gln228Glu, XP_011518277.1:p.Gln228Ter, XP_047282701.1:p.Gln228Glu, XP_047282701.1:p.Gln228Ter, XP_047282706.1:p.Gln228Glu, XP_047282706.1:p.Gln228Ter, XP_047282705.1:p.Gln228Glu, XP_047282705.1:p.Gln228Ter, XP_047282702.1:p.Gln228Glu, XP_047282702.1:p.Gln228Ter, XP_047282704.1:p.Gln228Glu, XP_047282704.1:p.Gln228Ter, XP_047282700.1:p.Gln228Glu, XP_047282700.1:p.Gln228Ter, NP_001378863.1:p.Gln228Glu, NP_001378863.1:p.Gln228Ter, XP_047282703.1:p.Gln228Glu, XP_047282703.1:p.Gln228Ter, NP_001378862.1:p.Gln228Glu, NP_001378862.1:p.Gln228Ter, NP_001378865.1:p.Gln228Glu, NP_001378865.1:p.Gln228Ter, NP_001378864.1:p.Gln228Glu, NP_001378864.1:p.Gln228Ter, NP_001378866.1:p.Gln228Glu, NP_001378866.1:p.Gln228Ter

                                16.

                                rs1436094642 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  11:22726298 (GRCh38)
                                  11:22747844 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:22726297:C:G
                                  Gene:
                                  GAS2 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0.000047/1 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.22726298C>G, NC_000011.9:g.22747844C>G, NM_005256.5:c.274C>G, NM_005256.4:c.274C>G, NM_005256.3:c.274C>G, XM_011519972.4:c.274C>G, XM_011519972.3:c.274C>G, XM_011519972.2:c.274C>G, XM_011519972.1:c.274C>G, XM_011519971.4:c.274C>G, XM_011519971.3:c.274C>G, XM_011519971.2:c.274C>G, XM_011519971.1:c.274C>G, NM_177553.4:c.274C>G, NM_177553.3:c.274C>G, NM_177553.2:c.274C>G, NM_001351224.3:c.274C>G, NM_001351224.2:c.274C>G, NM_001351224.1:c.274C>G, NM_001143830.3:c.274C>G, NM_001143830.2:c.274C>G, NM_001143830.1:c.274C>G, XM_017017532.2:c.274C>G, XM_017017532.1:c.274C>G, NR_147085.2:n.878C>G, NR_147085.1:n.610C>G, XR_001747829.2:n.370C>G, XR_001747829.1:n.580C>G, XM_011519975.2:c.274C>G, XM_011519975.1:c.274C>G, XM_047426745.1:c.274C>G, XR_007062473.1:n.370C>G, XM_047426750.1:c.274C>G, XM_047426749.1:c.274C>G, XM_047426746.1:c.274C>G, XM_047426748.1:c.274C>G, XM_047426744.1:c.274C>G, NM_001391934.1:c.274C>G, XM_047426747.1:c.274C>G, NM_001391933.1:c.274C>G, NM_001391936.1:c.274C>G, NM_001391935.1:c.274C>G, NM_001391937.1:c.274C>G, XR_007062472.1:n.583C>G, NP_005247.1:p.Pro92Ala, XP_011518274.1:p.Pro92Ala, XP_011518273.1:p.Pro92Ala, NP_808221.1:p.Pro92Ala, NP_001338153.1:p.Pro92Ala, NP_001137302.1:p.Pro92Ala, XP_016873021.1:p.Pro92Ala, XP_011518277.1:p.Pro92Ala, XP_047282701.1:p.Pro92Ala, XP_047282706.1:p.Pro92Ala, XP_047282705.1:p.Pro92Ala, XP_047282702.1:p.Pro92Ala, XP_047282704.1:p.Pro92Ala, XP_047282700.1:p.Pro92Ala, NP_001378863.1:p.Pro92Ala, XP_047282703.1:p.Pro92Ala, NP_001378862.1:p.Pro92Ala, NP_001378865.1:p.Pro92Ala, NP_001378864.1:p.Pro92Ala, NP_001378866.1:p.Pro92Ala

                                  17.

                                  rs1434241221 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    11:22737720 (GRCh38)
                                    11:22759266 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:22737719:C:A
                                    Gene:
                                    GAS2 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000011.10:g.22737720C>A, NC_000011.9:g.22759266C>A, NM_005256.5:c.425C>A, NM_005256.4:c.425C>A, NM_005256.3:c.425C>A, XM_011519972.4:c.425C>A, XM_011519972.3:c.425C>A, XM_011519972.2:c.425C>A, XM_011519972.1:c.425C>A, XM_011519971.4:c.425C>A, XM_011519971.3:c.425C>A, XM_011519971.2:c.425C>A, XM_011519971.1:c.425C>A, NM_177553.4:c.425C>A, NM_177553.3:c.425C>A, NM_177553.2:c.425C>A, NM_001351224.3:c.425C>A, NM_001351224.2:c.425C>A, NM_001351224.1:c.425C>A, NM_001143830.3:c.425C>A, NM_001143830.2:c.425C>A, NM_001143830.1:c.425C>A, XM_017017532.2:c.425C>A, XM_017017532.1:c.425C>A, NR_147085.2:n.1029C>A, NR_147085.1:n.761C>A, XR_001747829.2:n.521C>A, XR_001747829.1:n.731C>A, XM_011519975.2:c.425C>A, XM_011519975.1:c.425C>A, XM_047426745.1:c.425C>A, XR_007062473.1:n.521C>A, XM_047426750.1:c.425C>A, XM_047426749.1:c.425C>A, XM_047426746.1:c.425C>A, XM_047426748.1:c.425C>A, XM_047426744.1:c.425C>A, NM_001391934.1:c.425C>A, XM_047426747.1:c.425C>A, NM_001391933.1:c.425C>A, NM_001391936.1:c.425C>A, NM_001391935.1:c.425C>A, NM_001391937.1:c.425C>A, XR_007062472.1:n.734C>A, NP_005247.1:p.Pro142His, XP_011518274.1:p.Pro142His, XP_011518273.1:p.Pro142His, NP_808221.1:p.Pro142His, NP_001338153.1:p.Pro142His, NP_001137302.1:p.Pro142His, XP_016873021.1:p.Pro142His, XP_011518277.1:p.Pro142His, XP_047282701.1:p.Pro142His, XP_047282706.1:p.Pro142His, XP_047282705.1:p.Pro142His, XP_047282702.1:p.Pro142His, XP_047282704.1:p.Pro142His, XP_047282700.1:p.Pro142His, NP_001378863.1:p.Pro142His, XP_047282703.1:p.Pro142His, NP_001378862.1:p.Pro142His, NP_001378865.1:p.Pro142His, NP_001378864.1:p.Pro142His, NP_001378866.1:p.Pro142His

                                    18.

                                    rs1430650830 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      11:22726301 (GRCh38)
                                      11:22747847 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:22726300:T:C
                                      Gene:
                                      GAS2 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.000051/1 (ALFA)
                                      C=0.000004/1 (GnomAD_exomes)
                                      C=0.000007/1 (GnomAD)
                                      C=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000011.10:g.22726301T>C, NC_000011.9:g.22747847T>C, NM_005256.5:c.277T>C, NM_005256.4:c.277T>C, NM_005256.3:c.277T>C, XM_011519972.4:c.277T>C, XM_011519972.3:c.277T>C, XM_011519972.2:c.277T>C, XM_011519972.1:c.277T>C, XM_011519971.4:c.277T>C, XM_011519971.3:c.277T>C, XM_011519971.2:c.277T>C, XM_011519971.1:c.277T>C, NM_177553.4:c.277T>C, NM_177553.3:c.277T>C, NM_177553.2:c.277T>C, NM_001351224.3:c.277T>C, NM_001351224.2:c.277T>C, NM_001351224.1:c.277T>C, NM_001143830.3:c.277T>C, NM_001143830.2:c.277T>C, NM_001143830.1:c.277T>C, XM_017017532.2:c.277T>C, XM_017017532.1:c.277T>C, NR_147085.2:n.881T>C, NR_147085.1:n.613T>C, XR_001747829.2:n.373T>C, XR_001747829.1:n.583T>C, XM_011519975.2:c.277T>C, XM_011519975.1:c.277T>C, XM_047426745.1:c.277T>C, XR_007062473.1:n.373T>C, XM_047426750.1:c.277T>C, XM_047426749.1:c.277T>C, XM_047426746.1:c.277T>C, XM_047426748.1:c.277T>C, XM_047426744.1:c.277T>C, NM_001391934.1:c.277T>C, XM_047426747.1:c.277T>C, NM_001391933.1:c.277T>C, NM_001391936.1:c.277T>C, NM_001391935.1:c.277T>C, NM_001391937.1:c.277T>C, XR_007062472.1:n.586T>C

                                      19.

                                      rs1428834337 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A [Show Flanks]
                                        Chromosome:
                                        11:22737765 (GRCh38)
                                        11:22759311 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:22737764:C:A
                                        Gene:
                                        GAS2 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:
                                        NC_000011.10:g.22737765C>A, NC_000011.9:g.22759311C>A, NM_005256.5:c.470C>A, NM_005256.4:c.470C>A, NM_005256.3:c.470C>A, XM_011519972.4:c.470C>A, XM_011519972.3:c.470C>A, XM_011519972.2:c.470C>A, XM_011519972.1:c.470C>A, XM_011519971.4:c.470C>A, XM_011519971.3:c.470C>A, XM_011519971.2:c.470C>A, XM_011519971.1:c.470C>A, NM_177553.4:c.470C>A, NM_177553.3:c.470C>A, NM_177553.2:c.470C>A, NM_001351224.3:c.470C>A, NM_001351224.2:c.470C>A, NM_001351224.1:c.470C>A, NM_001143830.3:c.470C>A, NM_001143830.2:c.470C>A, NM_001143830.1:c.470C>A, XM_017017532.2:c.470C>A, XM_017017532.1:c.470C>A, NR_147085.2:n.1074C>A, NR_147085.1:n.806C>A, XR_001747829.2:n.566C>A, XR_001747829.1:n.776C>A, XM_011519975.2:c.470C>A, XM_011519975.1:c.470C>A, XM_047426745.1:c.470C>A, XR_007062473.1:n.566C>A, XM_047426750.1:c.470C>A, XM_047426749.1:c.470C>A, XM_047426746.1:c.470C>A, XM_047426748.1:c.470C>A, XM_047426744.1:c.470C>A, NM_001391934.1:c.470C>A, XM_047426747.1:c.470C>A, NM_001391933.1:c.470C>A, NM_001391936.1:c.470C>A, NM_001391935.1:c.470C>A, NM_001391937.1:c.470C>A, XR_007062472.1:n.779C>A, NP_005247.1:p.Ala157Asp, XP_011518274.1:p.Ala157Asp, XP_011518273.1:p.Ala157Asp, NP_808221.1:p.Ala157Asp, NP_001338153.1:p.Ala157Asp, NP_001137302.1:p.Ala157Asp, XP_016873021.1:p.Ala157Asp, XP_011518277.1:p.Ala157Asp, XP_047282701.1:p.Ala157Asp, XP_047282706.1:p.Ala157Asp, XP_047282705.1:p.Ala157Asp, XP_047282702.1:p.Ala157Asp, XP_047282704.1:p.Ala157Asp, XP_047282700.1:p.Ala157Asp, NP_001378863.1:p.Ala157Asp, XP_047282703.1:p.Ala157Asp, NP_001378862.1:p.Ala157Asp, NP_001378865.1:p.Ala157Asp, NP_001378864.1:p.Ala157Asp, NP_001378866.1:p.Ala157Asp

                                        20.

                                        rs1421001628 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G [Show Flanks]
                                          Chromosome:
                                          11:22685694 (GRCh38)
                                          11:22707240 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:22685693:A:C,NC_000011.10:22685693:A:G
                                          Gene:
                                          GAS2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          G=0.000031/1 (ALFA)
                                          C=0.000008/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000011.10:g.22685694A>C, NC_000011.10:g.22685694A>G, NC_000011.9:g.22707240A>C, NC_000011.9:g.22707240A>G, NM_005256.5:c.172A>C, NM_005256.5:c.172A>G, NM_005256.4:c.172A>C, NM_005256.4:c.172A>G, NM_005256.3:c.172A>C, NM_005256.3:c.172A>G, XM_011519972.4:c.172A>C, XM_011519972.4:c.172A>G, XM_011519972.3:c.172A>C, XM_011519972.3:c.172A>G, XM_011519972.2:c.172A>C, XM_011519972.2:c.172A>G, XM_011519972.1:c.172A>C, XM_011519972.1:c.172A>G, XM_011519971.4:c.172A>C, XM_011519971.4:c.172A>G, XM_011519971.3:c.172A>C, XM_011519971.3:c.172A>G, XM_011519971.2:c.172A>C, XM_011519971.2:c.172A>G, XM_011519971.1:c.172A>C, XM_011519971.1:c.172A>G, NM_177553.4:c.172A>C, NM_177553.4:c.172A>G, NM_177553.3:c.172A>C, NM_177553.3:c.172A>G, NM_177553.2:c.172A>C, NM_177553.2:c.172A>G, NM_001351224.3:c.172A>C, NM_001351224.3:c.172A>G, NM_001351224.2:c.172A>C, NM_001351224.2:c.172A>G, NM_001351224.1:c.172A>C, NM_001351224.1:c.172A>G, NM_001143830.3:c.172A>C, NM_001143830.3:c.172A>G, NM_001143830.2:c.172A>C, NM_001143830.2:c.172A>G, NM_001143830.1:c.172A>C, NM_001143830.1:c.172A>G, XM_017017532.2:c.172A>C, XM_017017532.2:c.172A>G, XM_017017532.1:c.172A>C, XM_017017532.1:c.172A>G, NR_147085.2:n.776A>C, NR_147085.2:n.776A>G, NR_147085.1:n.508A>C, NR_147085.1:n.508A>G, XR_001747829.2:n.268A>C, XR_001747829.2:n.268A>G, XR_001747829.1:n.478A>C, XR_001747829.1:n.478A>G, XM_011519975.2:c.172A>C, XM_011519975.2:c.172A>G, XM_011519975.1:c.172A>C, XM_011519975.1:c.172A>G, XM_047426745.1:c.172A>C, XM_047426745.1:c.172A>G, XR_007062473.1:n.268A>C, XR_007062473.1:n.268A>G, XM_047426750.1:c.172A>C, XM_047426750.1:c.172A>G, XM_047426749.1:c.172A>C, XM_047426749.1:c.172A>G, XM_047426746.1:c.172A>C, XM_047426746.1:c.172A>G, XM_047426748.1:c.172A>C, XM_047426748.1:c.172A>G, XM_047426744.1:c.172A>C, XM_047426744.1:c.172A>G, NM_001391934.1:c.172A>C, NM_001391934.1:c.172A>G, XM_047426747.1:c.172A>C, XM_047426747.1:c.172A>G, NM_001391933.1:c.172A>C, NM_001391933.1:c.172A>G, NM_001391936.1:c.172A>C, NM_001391936.1:c.172A>G, NM_001391935.1:c.172A>C, NM_001391935.1:c.172A>G, NM_001391937.1:c.172A>C, NM_001391937.1:c.172A>G, XR_007062472.1:n.481A>C, XR_007062472.1:n.481A>G, NP_005247.1:p.Met58Leu, NP_005247.1:p.Met58Val, XP_011518274.1:p.Met58Leu, XP_011518274.1:p.Met58Val, XP_011518273.1:p.Met58Leu, XP_011518273.1:p.Met58Val, NP_808221.1:p.Met58Leu, NP_808221.1:p.Met58Val, NP_001338153.1:p.Met58Leu, NP_001338153.1:p.Met58Val, NP_001137302.1:p.Met58Leu, NP_001137302.1:p.Met58Val, XP_016873021.1:p.Met58Leu, XP_016873021.1:p.Met58Val, XP_011518277.1:p.Met58Leu, XP_011518277.1:p.Met58Val, XP_047282701.1:p.Met58Leu, XP_047282701.1:p.Met58Val, XP_047282706.1:p.Met58Leu, XP_047282706.1:p.Met58Val, XP_047282705.1:p.Met58Leu, XP_047282705.1:p.Met58Val, XP_047282702.1:p.Met58Leu, XP_047282702.1:p.Met58Val, XP_047282704.1:p.Met58Leu, XP_047282704.1:p.Met58Val, XP_047282700.1:p.Met58Leu, XP_047282700.1:p.Met58Val, NP_001378863.1:p.Met58Leu, NP_001378863.1:p.Met58Val, XP_047282703.1:p.Met58Leu, XP_047282703.1:p.Met58Val, NP_001378862.1:p.Met58Leu, NP_001378862.1:p.Met58Val, NP_001378865.1:p.Met58Leu, NP_001378865.1:p.Met58Val, NP_001378864.1:p.Met58Leu, NP_001378864.1:p.Met58Val, NP_001378866.1:p.Met58Leu, NP_001378866.1:p.Met58Val

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