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Items: 1 to 20 of 187

1.

rs1485692918 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    2:111123940 (GRCh38)
    2:111881517 (GRCh37)
    Canonical SPDI:
    NC_000002.12:111123939:C:G
    Gene:
    BCL2L11 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    G=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1485119109 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      2:111124059 (GRCh38)
      2:111881636 (GRCh37)
      Canonical SPDI:
      NC_000002.12:111124058:C:A,NC_000002.12:111124058:C:G,NC_000002.12:111124058:C:T
      Gene:
      BCL2L11 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (TOPMED)
      HGVS:
      NC_000002.12:g.111124059C>A, NC_000002.12:g.111124059C>G, NC_000002.12:g.111124059C>T, NC_000002.11:g.111881636C>A, NC_000002.11:g.111881636C>G, NC_000002.11:g.111881636C>T, NG_029006.1:g.8146C>A, NG_029006.1:g.8146C>G, NG_029006.1:g.8146C>T, NM_138621.5:c.314C>A, NM_138621.5:c.314C>G, NM_138621.5:c.314C>T, NM_138621.4:c.314C>A, NM_138621.4:c.314C>G, NM_138621.4:c.314C>T, NM_006538.5:c.134C>A, NM_006538.5:c.134C>G, NM_006538.5:c.134C>T, NM_006538.4:c.134C>A, NM_006538.4:c.134C>G, NM_006538.4:c.134C>T, NM_138622.4:c.314C>A, NM_138622.4:c.314C>G, NM_138622.4:c.314C>T, NM_138622.3:c.314C>A, NM_138622.3:c.314C>G, NM_138622.3:c.314C>T, NM_138624.4:c.314C>A, NM_138624.4:c.314C>G, NM_138624.4:c.314C>T, NM_138624.3:c.314C>A, NM_138624.3:c.314C>G, NM_138624.3:c.314C>T, NM_138623.4:c.134C>A, NM_138623.4:c.134C>G, NM_138623.4:c.134C>T, NM_138623.3:c.134C>A, NM_138623.3:c.134C>G, NM_138623.3:c.134C>T, NM_138626.4:c.314C>A, NM_138626.4:c.314C>G, NM_138626.4:c.314C>T, NM_138626.3:c.314C>A, NM_138626.3:c.314C>G, NM_138626.3:c.314C>T, NM_207002.3:c.134C>A, NM_207002.3:c.134C>G, NM_207002.3:c.134C>T, NM_001204109.2:c.314C>A, NM_001204109.2:c.314C>G, NM_001204109.2:c.314C>T, NM_001204109.1:c.314C>A, NM_001204109.1:c.314C>G, NM_001204109.1:c.314C>T, NM_001204112.2:c.134C>A, NM_001204112.2:c.134C>G, NM_001204112.2:c.134C>T, NM_001204112.1:c.134C>A, NM_001204112.1:c.134C>G, NM_001204112.1:c.134C>T, NM_001204111.2:c.134C>A, NM_001204111.2:c.134C>G, NM_001204111.2:c.134C>T, NM_001204111.1:c.134C>A, NM_001204111.1:c.134C>G, NM_001204111.1:c.134C>T, NM_001204108.1:c.314C>A, NM_001204108.1:c.314C>G, NM_001204108.1:c.314C>T, NM_001204113.1:c.134C>A, NM_001204113.1:c.134C>G, NM_001204113.1:c.134C>T, XM_005263557.5:c.314C>A, XM_005263557.5:c.314C>G, XM_005263557.5:c.314C>T, XM_005263557.4:c.314C>A, XM_005263557.4:c.314C>G, XM_005263557.4:c.314C>T, XM_005263557.3:c.314C>A, XM_005263557.3:c.314C>G, XM_005263557.3:c.314C>T, XM_005263557.2:c.314C>A, XM_005263557.2:c.314C>G, XM_005263557.2:c.314C>T, XM_005263557.1:c.314C>A, XM_005263557.1:c.314C>G, XM_005263557.1:c.314C>T, XM_005263552.5:c.416C>A, XM_005263552.5:c.416C>G, XM_005263552.5:c.416C>T, XM_005263552.4:c.416C>A, XM_005263552.4:c.416C>G, XM_005263552.4:c.416C>T, XM_005263552.3:c.416C>A, XM_005263552.3:c.416C>G, XM_005263552.3:c.416C>T, XM_005263552.2:c.416C>A, XM_005263552.2:c.416C>G, XM_005263552.2:c.416C>T, XM_005263552.1:c.416C>A, XM_005263552.1:c.416C>G, XM_005263552.1:c.416C>T, XM_005263553.4:c.416C>A, XM_005263553.4:c.416C>G, XM_005263553.4:c.416C>T, XM_005263553.3:c.416C>A, XM_005263553.3:c.416C>G, XM_005263553.3:c.416C>T, XM_005263553.2:c.416C>A, XM_005263553.2:c.416C>G, XM_005263553.2:c.416C>T, XM_005263553.1:c.416C>A, XM_005263553.1:c.416C>G, XM_005263553.1:c.416C>T, XM_005263556.4:c.314C>A, XM_005263556.4:c.314C>G, XM_005263556.4:c.314C>T, XM_005263556.3:c.314C>A, XM_005263556.3:c.314C>G, XM_005263556.3:c.314C>T, XM_005263556.2:c.314C>A, XM_005263556.2:c.314C>G, XM_005263556.2:c.314C>T, XM_005263556.1:c.314C>A, XM_005263556.1:c.314C>G, XM_005263556.1:c.314C>T, XM_011510461.4:c.314C>A, XM_011510461.4:c.314C>G, XM_011510461.4:c.314C>T, XM_011510461.3:c.596C>A, XM_011510461.3:c.596C>G, XM_011510461.3:c.596C>T, XM_011510461.2:c.596C>A, XM_011510461.2:c.596C>G, XM_011510461.2:c.596C>T, XM_011510461.1:c.596C>A, XM_011510461.1:c.596C>G, XM_011510461.1:c.596C>T, XM_011510464.4:c.416C>A, XM_011510464.4:c.416C>G, XM_011510464.4:c.416C>T, XM_011510464.3:c.416C>A, XM_011510464.3:c.416C>G, XM_011510464.3:c.416C>T, XM_011510464.2:c.416C>A, XM_011510464.2:c.416C>G, XM_011510464.2:c.416C>T, XM_011510464.1:c.416C>A, XM_011510464.1:c.416C>G, XM_011510464.1:c.416C>T, XM_017003101.3:c.416C>A, XM_017003101.3:c.416C>G, XM_017003101.3:c.416C>T, XM_017003101.2:c.416C>A, XM_017003101.2:c.416C>G, XM_017003101.2:c.416C>T, XM_017003101.1:c.416C>A, XM_017003101.1:c.416C>G, XM_017003101.1:c.416C>T, XM_047442102.1:c.365C>A, XM_047442102.1:c.365C>G, XM_047442102.1:c.365C>T, XR_007068187.1:n.594C>A, XR_007068187.1:n.594C>G, XR_007068187.1:n.594C>T, XR_007068189.1:n.476C>A, XR_007068189.1:n.476C>G, XR_007068189.1:n.476C>T, XM_047442099.1:c.314C>A, XM_047442099.1:c.314C>G, XM_047442099.1:c.314C>T, XM_047442101.1:c.314C>A, XM_047442101.1:c.314C>G, XM_047442101.1:c.314C>T, XM_047442104.1:c.416C>A, XM_047442104.1:c.416C>G, XM_047442104.1:c.416C>T, NP_619527.1:p.Pro105Gln, NP_619527.1:p.Pro105Arg, NP_619527.1:p.Pro105Leu, NP_006529.1:p.Pro45Gln, NP_006529.1:p.Pro45Arg, NP_006529.1:p.Pro45Leu, NP_619528.1:p.Pro105Gln, NP_619528.1:p.Pro105Arg, NP_619528.1:p.Pro105Leu, NP_619530.1:p.Pro105Gln, NP_619530.1:p.Pro105Arg, NP_619530.1:p.Pro105Leu, NP_619529.1:p.Pro45Gln, NP_619529.1:p.Pro45Arg, NP_619529.1:p.Pro45Leu, NP_619532.1:p.Pro105Gln, NP_619532.1:p.Pro105Arg, NP_619532.1:p.Pro105Leu, NP_996885.1:p.Pro45Gln, NP_996885.1:p.Pro45Arg, NP_996885.1:p.Pro45Leu, NP_001191038.1:p.Pro105Gln, NP_001191038.1:p.Pro105Arg, NP_001191038.1:p.Pro105Leu, NP_001191041.1:p.Pro45Gln, NP_001191041.1:p.Pro45Arg, NP_001191041.1:p.Pro45Leu, NP_001191040.1:p.Pro45Gln, NP_001191040.1:p.Pro45Arg, NP_001191040.1:p.Pro45Leu, NP_001191037.1:p.Pro105Gln, NP_001191037.1:p.Pro105Arg, NP_001191037.1:p.Pro105Leu, NP_001191042.1:p.Pro45Gln, NP_001191042.1:p.Pro45Arg, NP_001191042.1:p.Pro45Leu, XP_005263614.1:p.Pro105Gln, XP_005263614.1:p.Pro105Arg, XP_005263614.1:p.Pro105Leu, XP_005263609.1:p.Pro139Gln, XP_005263609.1:p.Pro139Arg, XP_005263609.1:p.Pro139Leu, XP_005263610.1:p.Pro139Gln, XP_005263610.1:p.Pro139Arg, XP_005263610.1:p.Pro139Leu, XP_005263613.1:p.Pro105Gln, XP_005263613.1:p.Pro105Arg, XP_005263613.1:p.Pro105Leu, XP_011508763.2:p.Pro105Gln, XP_011508763.2:p.Pro105Arg, XP_011508763.2:p.Pro105Leu, XP_011508766.1:p.Pro139Gln, XP_011508766.1:p.Pro139Arg, XP_011508766.1:p.Pro139Leu, XP_016858590.1:p.Pro139Gln, XP_016858590.1:p.Pro139Arg, XP_016858590.1:p.Pro139Leu, XP_047298058.1:p.Pro122Gln, XP_047298058.1:p.Pro122Arg, XP_047298058.1:p.Pro122Leu, XP_047298055.1:p.Pro105Gln, XP_047298055.1:p.Pro105Arg, XP_047298055.1:p.Pro105Leu, XP_047298057.1:p.Pro105Gln, XP_047298057.1:p.Pro105Arg, XP_047298057.1:p.Pro105Leu, XP_047298060.1:p.Pro139Gln, XP_047298060.1:p.Pro139Arg, XP_047298060.1:p.Pro139Leu

      3.

      rs1475852311 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:111124018 (GRCh38)
        2:111881595 (GRCh37)
        Canonical SPDI:
        NC_000002.12:111124017:A:G
        Gene:
        BCL2L11 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        G=0.000546/1 (Korea1K)
        HGVS:

        4.

        rs1463030886 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          2:111123913 (GRCh38)
          2:111881490 (GRCh37)
          Canonical SPDI:
          NC_000002.12:111123912:C:A,NC_000002.12:111123912:C:T
          Gene:
          BCL2L11 (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.000031/1 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.111123913C>A, NC_000002.12:g.111123913C>T, NC_000002.11:g.111881490C>A, NC_000002.11:g.111881490C>T, NG_029006.1:g.8000C>A, NG_029006.1:g.8000C>T, NM_138621.5:c.168C>A, NM_138621.5:c.168C>T, NM_138621.4:c.168C>A, NM_138621.4:c.168C>T, NM_138622.4:c.168C>A, NM_138622.4:c.168C>T, NM_138622.3:c.168C>A, NM_138622.3:c.168C>T, NM_138624.4:c.168C>A, NM_138624.4:c.168C>T, NM_138624.3:c.168C>A, NM_138624.3:c.168C>T, NM_138626.4:c.168C>A, NM_138626.4:c.168C>T, NM_138626.3:c.168C>A, NM_138626.3:c.168C>T, NM_001204109.2:c.168C>A, NM_001204109.2:c.168C>T, NM_001204109.1:c.168C>A, NM_001204109.1:c.168C>T, NM_001204108.1:c.168C>A, NM_001204108.1:c.168C>T, XM_005263557.5:c.168C>A, XM_005263557.5:c.168C>T, XM_005263557.4:c.168C>A, XM_005263557.4:c.168C>T, XM_005263557.3:c.168C>A, XM_005263557.3:c.168C>T, XM_005263557.2:c.168C>A, XM_005263557.2:c.168C>T, XM_005263557.1:c.168C>A, XM_005263557.1:c.168C>T, XM_005263556.4:c.168C>A, XM_005263556.4:c.168C>T, XM_005263556.3:c.168C>A, XM_005263556.3:c.168C>T, XM_005263556.2:c.168C>A, XM_005263556.2:c.168C>T, XM_005263556.1:c.168C>A, XM_005263556.1:c.168C>T, XM_011510461.4:c.168C>A, XM_011510461.4:c.168C>T, XM_011510461.3:c.450C>A, XM_011510461.3:c.450C>T, XM_011510461.2:c.450C>A, XM_011510461.2:c.450C>T, XM_011510461.1:c.450C>A, XM_011510461.1:c.450C>T, XM_047442102.1:c.219C>A, XM_047442102.1:c.219C>T, XR_007068187.1:n.448C>A, XR_007068187.1:n.448C>T, XM_047442099.1:c.168C>A, XM_047442099.1:c.168C>T, XM_047442101.1:c.168C>A, XM_047442101.1:c.168C>T

          5.

          rs1448367071 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            2:111150056 (GRCh38)
            2:111907633 (GRCh37)
            Canonical SPDI:
            NC_000002.12:111150055:A:G
            Gene:
            BCL2L11 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000002.12:g.111150056A>G, NC_000002.11:g.111907633A>G, NG_029006.1:g.34143A>G, NM_138621.5:c.407A>G, NM_138621.4:c.407A>G, NM_006538.5:c.227A>G, NM_006538.4:c.227A>G, NM_138622.4:c.407A>G, NM_138622.3:c.407A>G, NM_138624.4:c.*32A>G, NM_138624.3:c.*32A>G, NM_138623.4:c.227A>G, NM_138623.3:c.227A>G, NM_138625.4:c.*25A>G, NM_138625.3:c.*25A>G, NM_207003.3:c.137A>G, NM_207003.2:c.137A>G, NM_001204110.2:c.137A>G, NM_001204110.1:c.137A>G, NM_001204106.2:c.137A>G, NM_001204106.1:c.137A>G, NM_001204108.1:c.407A>G, NM_001204107.1:c.137A>G, XM_005263557.5:c.407A>G, XM_005263557.4:c.407A>G, XM_005263557.3:c.407A>G, XM_005263557.2:c.407A>G, XM_005263557.1:c.407A>G, XM_005263552.5:c.509A>G, XM_005263552.4:c.509A>G, XM_005263552.3:c.509A>G, XM_005263552.2:c.509A>G, XM_005263552.1:c.509A>G, XM_005263555.5:c.137A>G, XM_005263555.4:c.419A>G, XM_005263555.3:c.419A>G, XM_005263555.2:c.419A>G, XM_005263555.1:c.419A>G, XM_005263553.4:c.509A>G, XM_005263553.3:c.509A>G, XM_005263553.2:c.509A>G, XM_005263553.1:c.509A>G, XM_005263559.4:c.137A>G, XM_005263559.3:c.419A>G, XM_005263559.2:c.419A>G, XM_005263559.1:c.419A>G, XM_005263556.4:c.407A>G, XM_005263556.3:c.407A>G, XM_005263556.2:c.407A>G, XM_005263556.1:c.407A>G, XM_047442102.1:c.458A>G, XR_007068189.1:n.569A>G, XM_047442099.1:c.407A>G, XM_047442101.1:c.*32A>G, NP_619527.1:p.Gln136Arg, NP_006529.1:p.Gln76Arg, NP_619528.1:p.Gln136Arg, NP_619529.1:p.Gln76Arg, NP_996886.1:p.Gln46Arg, NP_001191039.1:p.Gln46Arg, NP_001191035.1:p.Gln46Arg, NP_001191037.1:p.Gln136Arg, NP_001191036.1:p.Gln46Arg, XP_005263614.1:p.Gln136Arg, XP_005263609.1:p.Gln170Arg, XP_005263612.2:p.Gln46Arg, XP_005263610.1:p.Gln170Arg, XP_005263616.2:p.Gln46Arg, XP_005263613.1:p.Gln136Arg, XP_047298058.1:p.Gln153Arg, XP_047298055.1:p.Gln136Arg

            6.

            rs1447050253 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              2:111123869 (GRCh38)
              2:111881446 (GRCh37)
              Canonical SPDI:
              NC_000002.12:111123868:G:T
              Gene:
              BCL2L11 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.111123869G>T, NC_000002.11:g.111881446G>T, NG_029006.1:g.7956G>T, NM_138621.5:c.124G>T, NM_138621.4:c.124G>T, NM_006538.5:c.124G>T, NM_006538.4:c.124G>T, NM_138622.4:c.124G>T, NM_138622.3:c.124G>T, NM_138624.4:c.124G>T, NM_138624.3:c.124G>T, NM_138623.4:c.124G>T, NM_138623.3:c.124G>T, NM_138626.4:c.124G>T, NM_138626.3:c.124G>T, NM_138625.4:c.124G>T, NM_138625.3:c.124G>T, NM_138627.4:c.124G>T, NM_138627.3:c.124G>T, NM_207003.3:c.124G>T, NM_207003.2:c.124G>T, NM_207002.3:c.124G>T, NM_001204109.2:c.124G>T, NM_001204109.1:c.124G>T, NM_001204110.2:c.124G>T, NM_001204110.1:c.124G>T, NM_001204112.2:c.124G>T, NM_001204112.1:c.124G>T, NM_001204106.2:c.124G>T, NM_001204106.1:c.124G>T, NM_001204111.2:c.124G>T, NM_001204111.1:c.124G>T, NM_001204108.1:c.124G>T, NM_001204107.1:c.124G>T, NM_001204113.1:c.124G>T, XM_005263557.5:c.124G>T, XM_005263557.4:c.124G>T, XM_005263557.3:c.124G>T, XM_005263557.2:c.124G>T, XM_005263557.1:c.124G>T, XM_005263552.5:c.406G>T, XM_005263552.4:c.406G>T, XM_005263552.3:c.406G>T, XM_005263552.2:c.406G>T, XM_005263552.1:c.406G>T, XM_005263555.5:c.124G>T, XM_005263555.4:c.406G>T, XM_005263555.3:c.406G>T, XM_005263555.2:c.406G>T, XM_005263555.1:c.406G>T, XM_005263553.4:c.406G>T, XM_005263553.3:c.406G>T, XM_005263553.2:c.406G>T, XM_005263553.1:c.406G>T, XM_005263559.4:c.124G>T, XM_005263559.3:c.406G>T, XM_005263559.2:c.406G>T, XM_005263559.1:c.406G>T, XM_005263556.4:c.124G>T, XM_005263556.3:c.124G>T, XM_005263556.2:c.124G>T, XM_005263556.1:c.124G>T, XM_011510461.4:c.124G>T, XM_011510461.3:c.406G>T, XM_011510461.2:c.406G>T, XM_011510461.1:c.406G>T, XM_011510464.4:c.406G>T, XM_011510464.3:c.406G>T, XM_011510464.2:c.406G>T, XM_011510464.1:c.406G>T, XM_017003101.3:c.406G>T, XM_017003101.2:c.406G>T, XM_017003101.1:c.406G>T, XM_047442102.1:c.175G>T, XR_007068187.1:n.404G>T, XR_007068189.1:n.466G>T, XM_047442099.1:c.124G>T, XM_047442101.1:c.124G>T, XM_047442104.1:c.406G>T, NP_619527.1:p.Gly42Cys, NP_006529.1:p.Asp42Tyr, NP_619528.1:p.Gly42Cys, NP_619530.1:p.Gly42Cys, NP_619529.1:p.Asp42Tyr, NP_619532.1:p.Gly42Cys, NP_619531.1:p.Val42Phe, NP_619533.1:p.Gly42Cys, NP_996886.1:p.Ala42Ser, NP_996885.1:p.Asp42Tyr, NP_001191038.1:p.Gly42Cys, NP_001191039.1:p.Ala42Ser, NP_001191041.1:p.Asp42Tyr, NP_001191035.1:p.Ala42Ser, NP_001191040.1:p.Asp42Tyr, NP_001191037.1:p.Gly42Cys, NP_001191036.1:p.Ala42Ser, NP_001191042.1:p.Asp42Tyr, XP_005263614.1:p.Gly42Cys, XP_005263609.1:p.Asp136Tyr, XP_005263612.2:p.Ala42Ser, XP_005263610.1:p.Asp136Tyr, XP_005263616.2:p.Ala42Ser, XP_005263613.1:p.Gly42Cys, XP_011508763.2:p.Gly42Cys, XP_011508766.1:p.Asp136Tyr, XP_016858590.1:p.Asp136Tyr, XP_047298058.1:p.Gly59Cys, XP_047298055.1:p.Gly42Cys, XP_047298057.1:p.Gly42Cys, XP_047298060.1:p.Asp136Tyr

              7.

              rs1444228486 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                2:111123889 (GRCh38)
                2:111881466 (GRCh37)
                Canonical SPDI:
                NC_000002.12:111123888:C:G
                Gene:
                BCL2L11 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000028/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.111123889C>G, NC_000002.11:g.111881466C>G, NG_029006.1:g.7976C>G, NM_138621.5:c.144C>G, NM_138621.4:c.144C>G, NM_138622.4:c.144C>G, NM_138622.3:c.144C>G, NM_138624.4:c.144C>G, NM_138624.3:c.144C>G, NM_138626.4:c.144C>G, NM_138626.3:c.144C>G, NM_001204109.2:c.144C>G, NM_001204109.1:c.144C>G, NM_001204108.1:c.144C>G, XM_005263557.5:c.144C>G, XM_005263557.4:c.144C>G, XM_005263557.3:c.144C>G, XM_005263557.2:c.144C>G, XM_005263557.1:c.144C>G, XM_005263556.4:c.144C>G, XM_005263556.3:c.144C>G, XM_005263556.2:c.144C>G, XM_005263556.1:c.144C>G, XM_011510461.4:c.144C>G, XM_011510461.3:c.426C>G, XM_011510461.2:c.426C>G, XM_011510461.1:c.426C>G, XM_047442102.1:c.195C>G, XR_007068187.1:n.424C>G, XM_047442099.1:c.144C>G, XM_047442101.1:c.144C>G, NP_619527.1:p.His48Gln, NP_619528.1:p.His48Gln, NP_619530.1:p.His48Gln, NP_619532.1:p.His48Gln, NP_001191038.1:p.His48Gln, NP_001191037.1:p.His48Gln, XP_005263614.1:p.His48Gln, XP_005263613.1:p.His48Gln, XP_011508763.2:p.His48Gln, XP_047298058.1:p.His65Gln, XP_047298055.1:p.His48Gln, XP_047298057.1:p.His48Gln

                8.

                rs1440125674 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  2:111150054 (GRCh38)
                  2:111907631 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:111150053:G:T
                  Gene:
                  BCL2L11 (Varview)
                  Functional Consequence:
                  intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000002.12:g.111150054G>T, NC_000002.11:g.111907631G>T, NG_029006.1:g.34141G>T, NM_138621.5:c.405G>T, NM_138621.4:c.405G>T, NM_006538.5:c.225G>T, NM_006538.4:c.225G>T, NM_138622.4:c.405G>T, NM_138622.3:c.405G>T, NM_138624.4:c.*30G>T, NM_138624.3:c.*30G>T, NM_138623.4:c.225G>T, NM_138623.3:c.225G>T, NM_138625.4:c.*23G>T, NM_138625.3:c.*23G>T, NM_207003.3:c.135G>T, NM_207003.2:c.135G>T, NM_001204110.2:c.135G>T, NM_001204110.1:c.135G>T, NM_001204106.2:c.135G>T, NM_001204106.1:c.135G>T, NM_001204108.1:c.405G>T, NM_001204107.1:c.135G>T, XM_005263557.5:c.405G>T, XM_005263557.4:c.405G>T, XM_005263557.3:c.405G>T, XM_005263557.2:c.405G>T, XM_005263557.1:c.405G>T, XM_005263552.5:c.507G>T, XM_005263552.4:c.507G>T, XM_005263552.3:c.507G>T, XM_005263552.2:c.507G>T, XM_005263552.1:c.507G>T, XM_005263555.5:c.135G>T, XM_005263555.4:c.417G>T, XM_005263555.3:c.417G>T, XM_005263555.2:c.417G>T, XM_005263555.1:c.417G>T, XM_005263553.4:c.507G>T, XM_005263553.3:c.507G>T, XM_005263553.2:c.507G>T, XM_005263553.1:c.507G>T, XM_005263559.4:c.135G>T, XM_005263559.3:c.417G>T, XM_005263559.2:c.417G>T, XM_005263559.1:c.417G>T, XM_005263556.4:c.405G>T, XM_005263556.3:c.405G>T, XM_005263556.2:c.405G>T, XM_005263556.1:c.405G>T, XM_047442102.1:c.456G>T, XR_007068189.1:n.567G>T, XM_047442099.1:c.405G>T, XM_047442101.1:c.*30G>T, NP_619527.1:p.Arg135Ser, NP_006529.1:p.Arg75Ser, NP_619528.1:p.Arg135Ser, NP_619529.1:p.Arg75Ser, NP_996886.1:p.Arg45Ser, NP_001191039.1:p.Arg45Ser, NP_001191035.1:p.Arg45Ser, NP_001191037.1:p.Arg135Ser, NP_001191036.1:p.Arg45Ser, XP_005263614.1:p.Arg135Ser, XP_005263609.1:p.Arg169Ser, XP_005263612.2:p.Arg45Ser, XP_005263610.1:p.Arg169Ser, XP_005263616.2:p.Arg45Ser, XP_005263613.1:p.Arg135Ser, XP_047298058.1:p.Arg152Ser, XP_047298055.1:p.Arg135Ser

                  9.

                  rs1431222585 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    2:111123890 (GRCh38)
                    2:111881467 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:111123889:G:A,NC_000002.12:111123889:G:C
                    Gene:
                    BCL2L11 (Varview)
                    Functional Consequence:
                    intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    G=0.5/1 (SGDP_PRJ)
                    HGVS:
                    NC_000002.12:g.111123890G>A, NC_000002.12:g.111123890G>C, NC_000002.11:g.111881467G>A, NC_000002.11:g.111881467G>C, NG_029006.1:g.7977G>A, NG_029006.1:g.7977G>C, NM_138621.5:c.145G>A, NM_138621.5:c.145G>C, NM_138621.4:c.145G>A, NM_138621.4:c.145G>C, NM_138622.4:c.145G>A, NM_138622.4:c.145G>C, NM_138622.3:c.145G>A, NM_138622.3:c.145G>C, NM_138624.4:c.145G>A, NM_138624.4:c.145G>C, NM_138624.3:c.145G>A, NM_138624.3:c.145G>C, NM_138626.4:c.145G>A, NM_138626.4:c.145G>C, NM_138626.3:c.145G>A, NM_138626.3:c.145G>C, NM_001204109.2:c.145G>A, NM_001204109.2:c.145G>C, NM_001204109.1:c.145G>A, NM_001204109.1:c.145G>C, NM_001204108.1:c.145G>A, NM_001204108.1:c.145G>C, XM_005263557.5:c.145G>A, XM_005263557.5:c.145G>C, XM_005263557.4:c.145G>A, XM_005263557.4:c.145G>C, XM_005263557.3:c.145G>A, XM_005263557.3:c.145G>C, XM_005263557.2:c.145G>A, XM_005263557.2:c.145G>C, XM_005263557.1:c.145G>A, XM_005263557.1:c.145G>C, XM_005263556.4:c.145G>A, XM_005263556.4:c.145G>C, XM_005263556.3:c.145G>A, XM_005263556.3:c.145G>C, XM_005263556.2:c.145G>A, XM_005263556.2:c.145G>C, XM_005263556.1:c.145G>A, XM_005263556.1:c.145G>C, XM_011510461.4:c.145G>A, XM_011510461.4:c.145G>C, XM_011510461.3:c.427G>A, XM_011510461.3:c.427G>C, XM_011510461.2:c.427G>A, XM_011510461.2:c.427G>C, XM_011510461.1:c.427G>A, XM_011510461.1:c.427G>C, XM_047442102.1:c.196G>A, XM_047442102.1:c.196G>C, XR_007068187.1:n.425G>A, XR_007068187.1:n.425G>C, XM_047442099.1:c.145G>A, XM_047442099.1:c.145G>C, XM_047442101.1:c.145G>A, XM_047442101.1:c.145G>C, NP_619527.1:p.Gly49Arg, NP_619527.1:p.Gly49Arg, NP_619528.1:p.Gly49Arg, NP_619528.1:p.Gly49Arg, NP_619530.1:p.Gly49Arg, NP_619530.1:p.Gly49Arg, NP_619532.1:p.Gly49Arg, NP_619532.1:p.Gly49Arg, NP_001191038.1:p.Gly49Arg, NP_001191038.1:p.Gly49Arg, NP_001191037.1:p.Gly49Arg, NP_001191037.1:p.Gly49Arg, XP_005263614.1:p.Gly49Arg, XP_005263614.1:p.Gly49Arg, XP_005263613.1:p.Gly49Arg, XP_005263613.1:p.Gly49Arg, XP_011508763.2:p.Gly49Arg, XP_011508763.2:p.Gly49Arg, XP_047298058.1:p.Gly66Arg, XP_047298058.1:p.Gly66Arg, XP_047298055.1:p.Gly49Arg, XP_047298055.1:p.Gly49Arg, XP_047298057.1:p.Gly49Arg, XP_047298057.1:p.Gly49Arg

                    10.

                    rs1429573443 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,T [Show Flanks]
                      Chromosome:
                      2:111123810 (GRCh38)
                      2:111881387 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:111123809:C:A,NC_000002.12:111123809:C:T
                      Gene:
                      BCL2L11 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,missense_variant
                      Validated:
                      by cluster
                      HGVS:
                      NC_000002.12:g.111123810C>A, NC_000002.12:g.111123810C>T, NC_000002.11:g.111881387C>A, NC_000002.11:g.111881387C>T, NG_029006.1:g.7897C>A, NG_029006.1:g.7897C>T, NM_138621.5:c.65C>A, NM_138621.5:c.65C>T, NM_138621.4:c.65C>A, NM_138621.4:c.65C>T, NM_006538.5:c.65C>A, NM_006538.5:c.65C>T, NM_006538.4:c.65C>A, NM_006538.4:c.65C>T, NM_138622.4:c.65C>A, NM_138622.4:c.65C>T, NM_138622.3:c.65C>A, NM_138622.3:c.65C>T, NM_138624.4:c.65C>A, NM_138624.4:c.65C>T, NM_138624.3:c.65C>A, NM_138624.3:c.65C>T, NM_138623.4:c.65C>A, NM_138623.4:c.65C>T, NM_138623.3:c.65C>A, NM_138623.3:c.65C>T, NM_138626.4:c.65C>A, NM_138626.4:c.65C>T, NM_138626.3:c.65C>A, NM_138626.3:c.65C>T, NM_138625.4:c.65C>A, NM_138625.4:c.65C>T, NM_138625.3:c.65C>A, NM_138625.3:c.65C>T, NM_138627.4:c.65C>A, NM_138627.4:c.65C>T, NM_138627.3:c.65C>A, NM_138627.3:c.65C>T, NM_207003.3:c.65C>A, NM_207003.3:c.65C>T, NM_207003.2:c.65C>A, NM_207003.2:c.65C>T, NM_207002.3:c.65C>A, NM_207002.3:c.65C>T, NM_001204109.2:c.65C>A, NM_001204109.2:c.65C>T, NM_001204109.1:c.65C>A, NM_001204109.1:c.65C>T, NM_001204110.2:c.65C>A, NM_001204110.2:c.65C>T, NM_001204110.1:c.65C>A, NM_001204110.1:c.65C>T, NM_001204112.2:c.65C>A, NM_001204112.2:c.65C>T, NM_001204112.1:c.65C>A, NM_001204112.1:c.65C>T, NM_001204106.2:c.65C>A, NM_001204106.2:c.65C>T, NM_001204106.1:c.65C>A, NM_001204106.1:c.65C>T, NM_001204111.2:c.65C>A, NM_001204111.2:c.65C>T, NM_001204111.1:c.65C>A, NM_001204111.1:c.65C>T, NM_001204108.1:c.65C>A, NM_001204108.1:c.65C>T, NM_001204107.1:c.65C>A, NM_001204107.1:c.65C>T, NM_001204113.1:c.65C>A, NM_001204113.1:c.65C>T, XM_005263557.5:c.65C>A, XM_005263557.5:c.65C>T, XM_005263557.4:c.65C>A, XM_005263557.4:c.65C>T, XM_005263557.3:c.65C>A, XM_005263557.3:c.65C>T, XM_005263557.2:c.65C>A, XM_005263557.2:c.65C>T, XM_005263557.1:c.65C>A, XM_005263557.1:c.65C>T, XM_005263552.5:c.347C>A, XM_005263552.5:c.347C>T, XM_005263552.4:c.347C>A, XM_005263552.4:c.347C>T, XM_005263552.3:c.347C>A, XM_005263552.3:c.347C>T, XM_005263552.2:c.347C>A, XM_005263552.2:c.347C>T, XM_005263552.1:c.347C>A, XM_005263552.1:c.347C>T, XM_005263555.5:c.65C>A, XM_005263555.5:c.65C>T, XM_005263555.4:c.347C>A, XM_005263555.4:c.347C>T, XM_005263555.3:c.347C>A, XM_005263555.3:c.347C>T, XM_005263555.2:c.347C>A, XM_005263555.2:c.347C>T, XM_005263555.1:c.347C>A, XM_005263555.1:c.347C>T, XM_005263553.4:c.347C>A, XM_005263553.4:c.347C>T, XM_005263553.3:c.347C>A, XM_005263553.3:c.347C>T, XM_005263553.2:c.347C>A, XM_005263553.2:c.347C>T, XM_005263553.1:c.347C>A, XM_005263553.1:c.347C>T, XM_005263559.4:c.65C>A, XM_005263559.4:c.65C>T, XM_005263559.3:c.347C>A, XM_005263559.3:c.347C>T, XM_005263559.2:c.347C>A, XM_005263559.2:c.347C>T, XM_005263559.1:c.347C>A, XM_005263559.1:c.347C>T, XM_005263556.4:c.65C>A, XM_005263556.4:c.65C>T, XM_005263556.3:c.65C>A, XM_005263556.3:c.65C>T, XM_005263556.2:c.65C>A, XM_005263556.2:c.65C>T, XM_005263556.1:c.65C>A, XM_005263556.1:c.65C>T, XM_011510461.4:c.65C>A, XM_011510461.4:c.65C>T, XM_011510461.3:c.347C>A, XM_011510461.3:c.347C>T, XM_011510461.2:c.347C>A, XM_011510461.2:c.347C>T, XM_011510461.1:c.347C>A, XM_011510461.1:c.347C>T, XM_011510464.4:c.347C>A, XM_011510464.4:c.347C>T, XM_011510464.3:c.347C>A, XM_011510464.3:c.347C>T, XM_011510464.2:c.347C>A, XM_011510464.2:c.347C>T, XM_011510464.1:c.347C>A, XM_011510464.1:c.347C>T, XM_017003101.3:c.347C>A, XM_017003101.3:c.347C>T, XM_017003101.2:c.347C>A, XM_017003101.2:c.347C>T, XM_017003101.1:c.347C>A, XM_017003101.1:c.347C>T, XM_047442102.1:c.116C>A, XM_047442102.1:c.116C>T, XR_007068187.1:n.345C>A, XR_007068187.1:n.345C>T, XR_007068189.1:n.407C>A, XR_007068189.1:n.407C>T, XM_047442099.1:c.65C>A, XM_047442099.1:c.65C>T, XM_047442101.1:c.65C>A, XM_047442101.1:c.65C>T, XM_047442104.1:c.347C>A, XM_047442104.1:c.347C>T, NP_619527.1:p.Ala22Glu, NP_619527.1:p.Ala22Val, NP_006529.1:p.Ala22Glu, NP_006529.1:p.Ala22Val, NP_619528.1:p.Ala22Glu, NP_619528.1:p.Ala22Val, NP_619530.1:p.Ala22Glu, NP_619530.1:p.Ala22Val, NP_619529.1:p.Ala22Glu, NP_619529.1:p.Ala22Val, NP_619532.1:p.Ala22Glu, NP_619532.1:p.Ala22Val, NP_619531.1:p.Ala22Glu, NP_619531.1:p.Ala22Val, NP_619533.1:p.Ala22Glu, NP_619533.1:p.Ala22Val, NP_996886.1:p.Ala22Glu, NP_996886.1:p.Ala22Val, NP_996885.1:p.Ala22Glu, NP_996885.1:p.Ala22Val, NP_001191038.1:p.Ala22Glu, NP_001191038.1:p.Ala22Val, NP_001191039.1:p.Ala22Glu, NP_001191039.1:p.Ala22Val, NP_001191041.1:p.Ala22Glu, NP_001191041.1:p.Ala22Val, NP_001191035.1:p.Ala22Glu, NP_001191035.1:p.Ala22Val, NP_001191040.1:p.Ala22Glu, NP_001191040.1:p.Ala22Val, NP_001191037.1:p.Ala22Glu, NP_001191037.1:p.Ala22Val, NP_001191036.1:p.Ala22Glu, NP_001191036.1:p.Ala22Val, NP_001191042.1:p.Ala22Glu, NP_001191042.1:p.Ala22Val, XP_005263614.1:p.Ala22Glu, XP_005263614.1:p.Ala22Val, XP_005263609.1:p.Ala116Glu, XP_005263609.1:p.Ala116Val, XP_005263612.2:p.Ala22Glu, XP_005263612.2:p.Ala22Val, XP_005263610.1:p.Ala116Glu, XP_005263610.1:p.Ala116Val, XP_005263616.2:p.Ala22Glu, XP_005263616.2:p.Ala22Val, XP_005263613.1:p.Ala22Glu, XP_005263613.1:p.Ala22Val, XP_011508763.2:p.Ala22Glu, XP_011508763.2:p.Ala22Val, XP_011508766.1:p.Ala116Glu, XP_011508766.1:p.Ala116Val, XP_016858590.1:p.Ala116Glu, XP_016858590.1:p.Ala116Val, XP_047298058.1:p.Ala39Glu, XP_047298058.1:p.Ala39Val, XP_047298055.1:p.Ala22Glu, XP_047298055.1:p.Ala22Val, XP_047298057.1:p.Ala22Glu, XP_047298057.1:p.Ala22Val, XP_047298060.1:p.Ala116Glu, XP_047298060.1:p.Ala116Val

                      11.

                      rs1421729917 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        2:111123823 (GRCh38)
                        2:111881400 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:111123822:C:G
                        Gene:
                        BCL2L11 (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        G=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000002.12:g.111123823C>G, NC_000002.11:g.111881400C>G, NG_029006.1:g.7910C>G, NM_138621.5:c.78C>G, NM_138621.4:c.78C>G, NM_006538.5:c.78C>G, NM_006538.4:c.78C>G, NM_138622.4:c.78C>G, NM_138622.3:c.78C>G, NM_138624.4:c.78C>G, NM_138624.3:c.78C>G, NM_138623.4:c.78C>G, NM_138623.3:c.78C>G, NM_138626.4:c.78C>G, NM_138626.3:c.78C>G, NM_138625.4:c.78C>G, NM_138625.3:c.78C>G, NM_138627.4:c.78C>G, NM_138627.3:c.78C>G, NM_207003.3:c.78C>G, NM_207003.2:c.78C>G, NM_207002.3:c.78C>G, NM_001204109.2:c.78C>G, NM_001204109.1:c.78C>G, NM_001204110.2:c.78C>G, NM_001204110.1:c.78C>G, NM_001204112.2:c.78C>G, NM_001204112.1:c.78C>G, NM_001204106.2:c.78C>G, NM_001204106.1:c.78C>G, NM_001204111.2:c.78C>G, NM_001204111.1:c.78C>G, NM_001204108.1:c.78C>G, NM_001204107.1:c.78C>G, NM_001204113.1:c.78C>G, XM_005263557.5:c.78C>G, XM_005263557.4:c.78C>G, XM_005263557.3:c.78C>G, XM_005263557.2:c.78C>G, XM_005263557.1:c.78C>G, XM_005263552.5:c.360C>G, XM_005263552.4:c.360C>G, XM_005263552.3:c.360C>G, XM_005263552.2:c.360C>G, XM_005263552.1:c.360C>G, XM_005263555.5:c.78C>G, XM_005263555.4:c.360C>G, XM_005263555.3:c.360C>G, XM_005263555.2:c.360C>G, XM_005263555.1:c.360C>G, XM_005263553.4:c.360C>G, XM_005263553.3:c.360C>G, XM_005263553.2:c.360C>G, XM_005263553.1:c.360C>G, XM_005263559.4:c.78C>G, XM_005263559.3:c.360C>G, XM_005263559.2:c.360C>G, XM_005263559.1:c.360C>G, XM_005263556.4:c.78C>G, XM_005263556.3:c.78C>G, XM_005263556.2:c.78C>G, XM_005263556.1:c.78C>G, XM_011510461.4:c.78C>G, XM_011510461.3:c.360C>G, XM_011510461.2:c.360C>G, XM_011510461.1:c.360C>G, XM_011510464.4:c.360C>G, XM_011510464.3:c.360C>G, XM_011510464.2:c.360C>G, XM_011510464.1:c.360C>G, XM_017003101.3:c.360C>G, XM_017003101.2:c.360C>G, XM_017003101.1:c.360C>G, XM_047442102.1:c.129C>G, XR_007068187.1:n.358C>G, XR_007068189.1:n.420C>G, XM_047442099.1:c.78C>G, XM_047442101.1:c.78C>G, XM_047442104.1:c.360C>G

                        12.

                        rs1411833536 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          2:111150145 (GRCh38)
                          2:111907722 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:111150144:A:C
                          Gene:
                          BCL2L11 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.111150145A>C, NC_000002.11:g.111907722A>C, NG_029006.1:g.34232A>C, NM_138621.5:c.496A>C, NM_138621.4:c.496A>C, NM_006538.5:c.316A>C, NM_006538.4:c.316A>C, NM_138622.4:c.496A>C, NM_138622.3:c.496A>C, NM_138624.4:c.*121A>C, NM_138624.3:c.*121A>C, NM_138623.4:c.316A>C, NM_138623.3:c.316A>C, NM_138625.4:c.*114A>C, NM_138625.3:c.*114A>C, NM_207003.3:c.226A>C, NM_207003.2:c.226A>C, NM_001204110.2:c.226A>C, NM_001204110.1:c.226A>C, NM_001204106.2:c.226A>C, NM_001204106.1:c.226A>C, NM_001204108.1:c.496A>C, NM_001204107.1:c.226A>C, XM_005263557.5:c.496A>C, XM_005263557.4:c.496A>C, XM_005263557.3:c.496A>C, XM_005263557.2:c.496A>C, XM_005263557.1:c.496A>C, XM_005263552.5:c.598A>C, XM_005263552.4:c.598A>C, XM_005263552.3:c.598A>C, XM_005263552.2:c.598A>C, XM_005263552.1:c.598A>C, XM_005263555.5:c.226A>C, XM_005263555.4:c.508A>C, XM_005263555.3:c.508A>C, XM_005263555.2:c.508A>C, XM_005263555.1:c.508A>C, XM_005263553.4:c.598A>C, XM_005263553.3:c.598A>C, XM_005263553.2:c.598A>C, XM_005263553.1:c.598A>C, XM_005263559.4:c.226A>C, XM_005263559.3:c.508A>C, XM_005263559.2:c.508A>C, XM_005263559.1:c.508A>C, XM_005263556.4:c.496A>C, XM_005263556.3:c.496A>C, XM_005263556.2:c.496A>C, XM_005263556.1:c.496A>C, XM_047442102.1:c.547A>C, XR_007068189.1:n.658A>C, XM_047442099.1:c.496A>C

                          13.

                          rs1406287363 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:111124015 (GRCh38)
                            2:111881592 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:111124014:T:C
                            Gene:
                            BCL2L11 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.00055/1 (Korea1K)
                            HGVS:

                            14.

                            rs1405228237 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              2:111124103 (GRCh38)
                              2:111881680 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:111124102:C:A,NC_000002.12:111124102:C:G,NC_000002.12:111124102:C:T
                              Gene:
                              BCL2L11 (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.111124103C>A, NC_000002.12:g.111124103C>G, NC_000002.12:g.111124103C>T, NC_000002.11:g.111881680C>A, NC_000002.11:g.111881680C>G, NC_000002.11:g.111881680C>T, NG_029006.1:g.8190C>A, NG_029006.1:g.8190C>G, NG_029006.1:g.8190C>T, NM_138621.5:c.358C>A, NM_138621.5:c.358C>G, NM_138621.5:c.358C>T, NM_138621.4:c.358C>A, NM_138621.4:c.358C>G, NM_138621.4:c.358C>T, NM_006538.5:c.178C>A, NM_006538.5:c.178C>G, NM_006538.5:c.178C>T, NM_006538.4:c.178C>A, NM_006538.4:c.178C>G, NM_006538.4:c.178C>T, NM_138622.4:c.358C>A, NM_138622.4:c.358C>G, NM_138622.4:c.358C>T, NM_138622.3:c.358C>A, NM_138622.3:c.358C>G, NM_138622.3:c.358C>T, NM_138624.4:c.358C>A, NM_138624.4:c.358C>G, NM_138624.4:c.358C>T, NM_138624.3:c.358C>A, NM_138624.3:c.358C>G, NM_138624.3:c.358C>T, NM_138623.4:c.178C>A, NM_138623.4:c.178C>G, NM_138623.4:c.178C>T, NM_138623.3:c.178C>A, NM_138623.3:c.178C>G, NM_138623.3:c.178C>T, NM_138626.4:c.358C>A, NM_138626.4:c.358C>G, NM_138626.4:c.358C>T, NM_138626.3:c.358C>A, NM_138626.3:c.358C>G, NM_138626.3:c.358C>T, NM_207002.3:c.178C>A, NM_207002.3:c.178C>G, NM_207002.3:c.178C>T, NM_001204109.2:c.358C>A, NM_001204109.2:c.358C>G, NM_001204109.2:c.358C>T, NM_001204109.1:c.358C>A, NM_001204109.1:c.358C>G, NM_001204109.1:c.358C>T, NM_001204112.2:c.178C>A, NM_001204112.2:c.178C>G, NM_001204112.2:c.178C>T, NM_001204112.1:c.178C>A, NM_001204112.1:c.178C>G, NM_001204112.1:c.178C>T, NM_001204111.2:c.178C>A, NM_001204111.2:c.178C>G, NM_001204111.2:c.178C>T, NM_001204111.1:c.178C>A, NM_001204111.1:c.178C>G, NM_001204111.1:c.178C>T, NM_001204108.1:c.358C>A, NM_001204108.1:c.358C>G, NM_001204108.1:c.358C>T, NM_001204113.1:c.178C>A, NM_001204113.1:c.178C>G, NM_001204113.1:c.178C>T, XM_005263557.5:c.358C>A, XM_005263557.5:c.358C>G, XM_005263557.5:c.358C>T, XM_005263557.4:c.358C>A, XM_005263557.4:c.358C>G, XM_005263557.4:c.358C>T, XM_005263557.3:c.358C>A, XM_005263557.3:c.358C>G, XM_005263557.3:c.358C>T, XM_005263557.2:c.358C>A, XM_005263557.2:c.358C>G, XM_005263557.2:c.358C>T, XM_005263557.1:c.358C>A, XM_005263557.1:c.358C>G, XM_005263557.1:c.358C>T, XM_005263552.5:c.460C>A, XM_005263552.5:c.460C>G, XM_005263552.5:c.460C>T, XM_005263552.4:c.460C>A, XM_005263552.4:c.460C>G, XM_005263552.4:c.460C>T, XM_005263552.3:c.460C>A, XM_005263552.3:c.460C>G, XM_005263552.3:c.460C>T, XM_005263552.2:c.460C>A, XM_005263552.2:c.460C>G, XM_005263552.2:c.460C>T, XM_005263552.1:c.460C>A, XM_005263552.1:c.460C>G, XM_005263552.1:c.460C>T, XM_005263553.4:c.460C>A, XM_005263553.4:c.460C>G, XM_005263553.4:c.460C>T, XM_005263553.3:c.460C>A, XM_005263553.3:c.460C>G, XM_005263553.3:c.460C>T, XM_005263553.2:c.460C>A, XM_005263553.2:c.460C>G, XM_005263553.2:c.460C>T, XM_005263553.1:c.460C>A, XM_005263553.1:c.460C>G, XM_005263553.1:c.460C>T, XM_005263556.4:c.358C>A, XM_005263556.4:c.358C>G, XM_005263556.4:c.358C>T, XM_005263556.3:c.358C>A, XM_005263556.3:c.358C>G, XM_005263556.3:c.358C>T, XM_005263556.2:c.358C>A, XM_005263556.2:c.358C>G, XM_005263556.2:c.358C>T, XM_005263556.1:c.358C>A, XM_005263556.1:c.358C>G, XM_005263556.1:c.358C>T, XM_011510461.4:c.358C>A, XM_011510461.4:c.358C>G, XM_011510461.4:c.358C>T, XM_011510461.3:c.640C>A, XM_011510461.3:c.640C>G, XM_011510461.3:c.640C>T, XM_011510461.2:c.640C>A, XM_011510461.2:c.640C>G, XM_011510461.2:c.640C>T, XM_011510461.1:c.640C>A, XM_011510461.1:c.640C>G, XM_011510461.1:c.640C>T, XM_011510464.4:c.460C>A, XM_011510464.4:c.460C>G, XM_011510464.4:c.460C>T, XM_011510464.3:c.460C>A, XM_011510464.3:c.460C>G, XM_011510464.3:c.460C>T, XM_011510464.2:c.460C>A, XM_011510464.2:c.460C>G, XM_011510464.2:c.460C>T, XM_011510464.1:c.460C>A, XM_011510464.1:c.460C>G, XM_011510464.1:c.460C>T, XM_017003101.3:c.460C>A, XM_017003101.3:c.460C>G, XM_017003101.3:c.460C>T, XM_017003101.2:c.460C>A, XM_017003101.2:c.460C>G, XM_017003101.2:c.460C>T, XM_017003101.1:c.460C>A, XM_017003101.1:c.460C>G, XM_017003101.1:c.460C>T, XM_047442102.1:c.409C>A, XM_047442102.1:c.409C>G, XM_047442102.1:c.409C>T, XR_007068187.1:n.638C>A, XR_007068187.1:n.638C>G, XR_007068187.1:n.638C>T, XR_007068189.1:n.520C>A, XR_007068189.1:n.520C>G, XR_007068189.1:n.520C>T, XM_047442099.1:c.358C>A, XM_047442099.1:c.358C>G, XM_047442099.1:c.358C>T, XM_047442101.1:c.358C>A, XM_047442101.1:c.358C>G, XM_047442101.1:c.358C>T, XM_047442104.1:c.460C>A, XM_047442104.1:c.460C>G, XM_047442104.1:c.460C>T, NP_619527.1:p.Pro120Thr, NP_619527.1:p.Pro120Ala, NP_619527.1:p.Pro120Ser, NP_006529.1:p.Pro60Thr, NP_006529.1:p.Pro60Ala, NP_006529.1:p.Pro60Ser, NP_619528.1:p.Pro120Thr, NP_619528.1:p.Pro120Ala, NP_619528.1:p.Pro120Ser, NP_619530.1:p.Pro120Thr, NP_619530.1:p.Pro120Ala, NP_619530.1:p.Pro120Ser, NP_619529.1:p.Pro60Thr, NP_619529.1:p.Pro60Ala, NP_619529.1:p.Pro60Ser, NP_619532.1:p.Pro120Thr, NP_619532.1:p.Pro120Ala, NP_619532.1:p.Pro120Ser, NP_996885.1:p.Pro60Thr, NP_996885.1:p.Pro60Ala, NP_996885.1:p.Pro60Ser, NP_001191038.1:p.Pro120Thr, NP_001191038.1:p.Pro120Ala, NP_001191038.1:p.Pro120Ser, NP_001191041.1:p.Pro60Thr, NP_001191041.1:p.Pro60Ala, NP_001191041.1:p.Pro60Ser, NP_001191040.1:p.Pro60Thr, NP_001191040.1:p.Pro60Ala, NP_001191040.1:p.Pro60Ser, NP_001191037.1:p.Pro120Thr, NP_001191037.1:p.Pro120Ala, NP_001191037.1:p.Pro120Ser, NP_001191042.1:p.Pro60Thr, NP_001191042.1:p.Pro60Ala, NP_001191042.1:p.Pro60Ser, XP_005263614.1:p.Pro120Thr, XP_005263614.1:p.Pro120Ala, XP_005263614.1:p.Pro120Ser, XP_005263609.1:p.Pro154Thr, XP_005263609.1:p.Pro154Ala, XP_005263609.1:p.Pro154Ser, XP_005263610.1:p.Pro154Thr, XP_005263610.1:p.Pro154Ala, XP_005263610.1:p.Pro154Ser, XP_005263613.1:p.Pro120Thr, XP_005263613.1:p.Pro120Ala, XP_005263613.1:p.Pro120Ser, XP_011508763.2:p.Pro120Thr, XP_011508763.2:p.Pro120Ala, XP_011508763.2:p.Pro120Ser, XP_011508766.1:p.Pro154Thr, XP_011508766.1:p.Pro154Ala, XP_011508766.1:p.Pro154Ser, XP_016858590.1:p.Pro154Thr, XP_016858590.1:p.Pro154Ala, XP_016858590.1:p.Pro154Ser, XP_047298058.1:p.Pro137Thr, XP_047298058.1:p.Pro137Ala, XP_047298058.1:p.Pro137Ser, XP_047298055.1:p.Pro120Thr, XP_047298055.1:p.Pro120Ala, XP_047298055.1:p.Pro120Ser, XP_047298057.1:p.Pro120Thr, XP_047298057.1:p.Pro120Ala, XP_047298057.1:p.Pro120Ser, XP_047298060.1:p.Pro154Thr, XP_047298060.1:p.Pro154Ala, XP_047298060.1:p.Pro154Ser

                              15.

                              rs1403383759 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:111123828 (GRCh38)
                                2:111881405 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:111123827:T:C
                                Gene:
                                BCL2L11 (Varview)
                                Functional Consequence:
                                missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                HGVS:
                                NC_000002.12:g.111123828T>C, NC_000002.11:g.111881405T>C, NG_029006.1:g.7915T>C, NM_138621.5:c.83T>C, NM_138621.4:c.83T>C, NM_006538.5:c.83T>C, NM_006538.4:c.83T>C, NM_138622.4:c.83T>C, NM_138622.3:c.83T>C, NM_138624.4:c.83T>C, NM_138624.3:c.83T>C, NM_138623.4:c.83T>C, NM_138623.3:c.83T>C, NM_138626.4:c.83T>C, NM_138626.3:c.83T>C, NM_138625.4:c.83T>C, NM_138625.3:c.83T>C, NM_138627.4:c.83T>C, NM_138627.3:c.83T>C, NM_207003.3:c.83T>C, NM_207003.2:c.83T>C, NM_207002.3:c.83T>C, NM_001204109.2:c.83T>C, NM_001204109.1:c.83T>C, NM_001204110.2:c.83T>C, NM_001204110.1:c.83T>C, NM_001204112.2:c.83T>C, NM_001204112.1:c.83T>C, NM_001204106.2:c.83T>C, NM_001204106.1:c.83T>C, NM_001204111.2:c.83T>C, NM_001204111.1:c.83T>C, NM_001204108.1:c.83T>C, NM_001204107.1:c.83T>C, NM_001204113.1:c.83T>C, XM_005263557.5:c.83T>C, XM_005263557.4:c.83T>C, XM_005263557.3:c.83T>C, XM_005263557.2:c.83T>C, XM_005263557.1:c.83T>C, XM_005263552.5:c.365T>C, XM_005263552.4:c.365T>C, XM_005263552.3:c.365T>C, XM_005263552.2:c.365T>C, XM_005263552.1:c.365T>C, XM_005263555.5:c.83T>C, XM_005263555.4:c.365T>C, XM_005263555.3:c.365T>C, XM_005263555.2:c.365T>C, XM_005263555.1:c.365T>C, XM_005263553.4:c.365T>C, XM_005263553.3:c.365T>C, XM_005263553.2:c.365T>C, XM_005263553.1:c.365T>C, XM_005263559.4:c.83T>C, XM_005263559.3:c.365T>C, XM_005263559.2:c.365T>C, XM_005263559.1:c.365T>C, XM_005263556.4:c.83T>C, XM_005263556.3:c.83T>C, XM_005263556.2:c.83T>C, XM_005263556.1:c.83T>C, XM_011510461.4:c.83T>C, XM_011510461.3:c.365T>C, XM_011510461.2:c.365T>C, XM_011510461.1:c.365T>C, XM_011510464.4:c.365T>C, XM_011510464.3:c.365T>C, XM_011510464.2:c.365T>C, XM_011510464.1:c.365T>C, XM_017003101.3:c.365T>C, XM_017003101.2:c.365T>C, XM_017003101.1:c.365T>C, XM_047442102.1:c.134T>C, XR_007068187.1:n.363T>C, XR_007068189.1:n.425T>C, XM_047442099.1:c.83T>C, XM_047442101.1:c.83T>C, XM_047442104.1:c.365T>C, NP_619527.1:p.Leu28Pro, NP_006529.1:p.Leu28Pro, NP_619528.1:p.Leu28Pro, NP_619530.1:p.Leu28Pro, NP_619529.1:p.Leu28Pro, NP_619532.1:p.Leu28Pro, NP_619531.1:p.Leu28Pro, NP_619533.1:p.Leu28Pro, NP_996886.1:p.Leu28Pro, NP_996885.1:p.Leu28Pro, NP_001191038.1:p.Leu28Pro, NP_001191039.1:p.Leu28Pro, NP_001191041.1:p.Leu28Pro, NP_001191035.1:p.Leu28Pro, NP_001191040.1:p.Leu28Pro, NP_001191037.1:p.Leu28Pro, NP_001191036.1:p.Leu28Pro, NP_001191042.1:p.Leu28Pro, XP_005263614.1:p.Leu28Pro, XP_005263609.1:p.Leu122Pro, XP_005263612.2:p.Leu28Pro, XP_005263610.1:p.Leu122Pro, XP_005263616.2:p.Leu28Pro, XP_005263613.1:p.Leu28Pro, XP_011508763.2:p.Leu28Pro, XP_011508766.1:p.Leu122Pro, XP_016858590.1:p.Leu122Pro, XP_047298058.1:p.Leu45Pro, XP_047298055.1:p.Leu28Pro, XP_047298057.1:p.Leu28Pro, XP_047298060.1:p.Leu122Pro

                                16.

                                rs1400382594 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:111123928 (GRCh38)
                                  2:111881505 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:111123927:G:A
                                  Gene:
                                  BCL2L11 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:

                                  17.

                                  rs1399100465 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    2:111124005 (GRCh38)
                                    2:111881582 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:111124004:C:T
                                    Gene:
                                    BCL2L11 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000224/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000223/1 (Estonian)
                                    HGVS:
                                    NC_000002.12:g.111124005C>T, NC_000002.11:g.111881582C>T, NG_029006.1:g.8092C>T, NM_138621.5:c.260C>T, NM_138621.4:c.260C>T, NM_138622.4:c.260C>T, NM_138622.3:c.260C>T, NM_138624.4:c.260C>T, NM_138624.3:c.260C>T, NM_138626.4:c.260C>T, NM_138626.3:c.260C>T, NM_001204109.2:c.260C>T, NM_001204109.1:c.260C>T, NM_001204108.1:c.260C>T, XM_005263557.5:c.260C>T, XM_005263557.4:c.260C>T, XM_005263557.3:c.260C>T, XM_005263557.2:c.260C>T, XM_005263557.1:c.260C>T, XM_005263556.4:c.260C>T, XM_005263556.3:c.260C>T, XM_005263556.2:c.260C>T, XM_005263556.1:c.260C>T, XM_011510461.4:c.260C>T, XM_011510461.3:c.542C>T, XM_011510461.2:c.542C>T, XM_011510461.1:c.542C>T, XM_047442102.1:c.311C>T, XR_007068187.1:n.540C>T, XM_047442099.1:c.260C>T, XM_047442101.1:c.260C>T, NP_619527.1:p.Ser87Phe, NP_619528.1:p.Ser87Phe, NP_619530.1:p.Ser87Phe, NP_619532.1:p.Ser87Phe, NP_001191038.1:p.Ser87Phe, NP_001191037.1:p.Ser87Phe, XP_005263614.1:p.Ser87Phe, XP_005263613.1:p.Ser87Phe, XP_011508763.2:p.Ser87Phe, XP_047298058.1:p.Ser104Phe, XP_047298055.1:p.Ser87Phe, XP_047298057.1:p.Ser87Phe

                                    18.

                                    rs1394795184 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,T [Show Flanks]
                                      Chromosome:
                                      2:111123922 (GRCh38)
                                      2:111881499 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:111123921:C:A,NC_000002.12:111123921:C:T
                                      Gene:
                                      BCL2L11 (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.111123922C>A, NC_000002.12:g.111123922C>T, NC_000002.11:g.111881499C>A, NC_000002.11:g.111881499C>T, NG_029006.1:g.8009C>A, NG_029006.1:g.8009C>T, NM_138621.5:c.177C>A, NM_138621.5:c.177C>T, NM_138621.4:c.177C>A, NM_138621.4:c.177C>T, NM_138622.4:c.177C>A, NM_138622.4:c.177C>T, NM_138622.3:c.177C>A, NM_138622.3:c.177C>T, NM_138624.4:c.177C>A, NM_138624.4:c.177C>T, NM_138624.3:c.177C>A, NM_138624.3:c.177C>T, NM_138626.4:c.177C>A, NM_138626.4:c.177C>T, NM_138626.3:c.177C>A, NM_138626.3:c.177C>T, NM_001204109.2:c.177C>A, NM_001204109.2:c.177C>T, NM_001204109.1:c.177C>A, NM_001204109.1:c.177C>T, NM_001204108.1:c.177C>A, NM_001204108.1:c.177C>T, XM_005263557.5:c.177C>A, XM_005263557.5:c.177C>T, XM_005263557.4:c.177C>A, XM_005263557.4:c.177C>T, XM_005263557.3:c.177C>A, XM_005263557.3:c.177C>T, XM_005263557.2:c.177C>A, XM_005263557.2:c.177C>T, XM_005263557.1:c.177C>A, XM_005263557.1:c.177C>T, XM_005263556.4:c.177C>A, XM_005263556.4:c.177C>T, XM_005263556.3:c.177C>A, XM_005263556.3:c.177C>T, XM_005263556.2:c.177C>A, XM_005263556.2:c.177C>T, XM_005263556.1:c.177C>A, XM_005263556.1:c.177C>T, XM_011510461.4:c.177C>A, XM_011510461.4:c.177C>T, XM_011510461.3:c.459C>A, XM_011510461.3:c.459C>T, XM_011510461.2:c.459C>A, XM_011510461.2:c.459C>T, XM_011510461.1:c.459C>A, XM_011510461.1:c.459C>T, XM_047442102.1:c.228C>A, XM_047442102.1:c.228C>T, XR_007068187.1:n.457C>A, XR_007068187.1:n.457C>T, XM_047442099.1:c.177C>A, XM_047442099.1:c.177C>T, XM_047442101.1:c.177C>A, XM_047442101.1:c.177C>T, NP_619527.1:p.Ser59Arg, NP_619528.1:p.Ser59Arg, NP_619530.1:p.Ser59Arg, NP_619532.1:p.Ser59Arg, NP_001191038.1:p.Ser59Arg, NP_001191037.1:p.Ser59Arg, XP_005263614.1:p.Ser59Arg, XP_005263613.1:p.Ser59Arg, XP_011508763.2:p.Ser59Arg, XP_047298058.1:p.Ser76Arg, XP_047298055.1:p.Ser59Arg, XP_047298057.1:p.Ser59Arg

                                      19.

                                      rs1386206200 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:111123932 (GRCh38)
                                        2:111881509 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:111123931:C:T
                                        Gene:
                                        BCL2L11 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.111123932C>T, NC_000002.11:g.111881509C>T, NG_029006.1:g.8019C>T, NM_138621.5:c.187C>T, NM_138621.4:c.187C>T, NM_138622.4:c.187C>T, NM_138622.3:c.187C>T, NM_138624.4:c.187C>T, NM_138624.3:c.187C>T, NM_138626.4:c.187C>T, NM_138626.3:c.187C>T, NM_001204109.2:c.187C>T, NM_001204109.1:c.187C>T, NM_001204108.1:c.187C>T, XM_005263557.5:c.187C>T, XM_005263557.4:c.187C>T, XM_005263557.3:c.187C>T, XM_005263557.2:c.187C>T, XM_005263557.1:c.187C>T, XM_005263556.4:c.187C>T, XM_005263556.3:c.187C>T, XM_005263556.2:c.187C>T, XM_005263556.1:c.187C>T, XM_011510461.4:c.187C>T, XM_011510461.3:c.469C>T, XM_011510461.2:c.469C>T, XM_011510461.1:c.469C>T, XM_047442102.1:c.238C>T, XR_007068187.1:n.467C>T, XM_047442099.1:c.187C>T, XM_047442101.1:c.187C>T, NP_619527.1:p.Pro63Ser, NP_619528.1:p.Pro63Ser, NP_619530.1:p.Pro63Ser, NP_619532.1:p.Pro63Ser, NP_001191038.1:p.Pro63Ser, NP_001191037.1:p.Pro63Ser, XP_005263614.1:p.Pro63Ser, XP_005263613.1:p.Pro63Ser, XP_011508763.2:p.Pro63Ser, XP_047298058.1:p.Pro80Ser, XP_047298055.1:p.Pro63Ser, XP_047298057.1:p.Pro63Ser

                                        20.

                                        rs1384450092 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>T [Show Flanks]
                                          Chromosome:
                                          2:111150052 (GRCh38)
                                          2:111907629 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:111150051:A:T
                                          Gene:
                                          BCL2L11 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000087/2 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.111150052A>T, NC_000002.11:g.111907629A>T, NG_029006.1:g.34139A>T, NM_138621.5:c.403A>T, NM_138621.4:c.403A>T, NM_006538.5:c.223A>T, NM_006538.4:c.223A>T, NM_138622.4:c.403A>T, NM_138622.3:c.403A>T, NM_138624.4:c.*28A>T, NM_138624.3:c.*28A>T, NM_138623.4:c.223A>T, NM_138623.3:c.223A>T, NM_138625.4:c.*21A>T, NM_138625.3:c.*21A>T, NM_207003.3:c.133A>T, NM_207003.2:c.133A>T, NM_001204110.2:c.133A>T, NM_001204110.1:c.133A>T, NM_001204106.2:c.133A>T, NM_001204106.1:c.133A>T, NM_001204108.1:c.403A>T, NM_001204107.1:c.133A>T, XM_005263557.5:c.403A>T, XM_005263557.4:c.403A>T, XM_005263557.3:c.403A>T, XM_005263557.2:c.403A>T, XM_005263557.1:c.403A>T, XM_005263552.5:c.505A>T, XM_005263552.4:c.505A>T, XM_005263552.3:c.505A>T, XM_005263552.2:c.505A>T, XM_005263552.1:c.505A>T, XM_005263555.5:c.133A>T, XM_005263555.4:c.415A>T, XM_005263555.3:c.415A>T, XM_005263555.2:c.415A>T, XM_005263555.1:c.415A>T, XM_005263553.4:c.505A>T, XM_005263553.3:c.505A>T, XM_005263553.2:c.505A>T, XM_005263553.1:c.505A>T, XM_005263559.4:c.133A>T, XM_005263559.3:c.415A>T, XM_005263559.2:c.415A>T, XM_005263559.1:c.415A>T, XM_005263556.4:c.403A>T, XM_005263556.3:c.403A>T, XM_005263556.2:c.403A>T, XM_005263556.1:c.403A>T, XM_047442102.1:c.454A>T, XR_007068189.1:n.565A>T, XM_047442099.1:c.403A>T, XM_047442101.1:c.*28A>T, NP_619527.1:p.Arg135Trp, NP_006529.1:p.Arg75Trp, NP_619528.1:p.Arg135Trp, NP_619529.1:p.Arg75Trp, NP_996886.1:p.Arg45Trp, NP_001191039.1:p.Arg45Trp, NP_001191035.1:p.Arg45Trp, NP_001191037.1:p.Arg135Trp, NP_001191036.1:p.Arg45Trp, XP_005263614.1:p.Arg135Trp, XP_005263609.1:p.Arg169Trp, XP_005263612.2:p.Arg45Trp, XP_005263610.1:p.Arg169Trp, XP_005263616.2:p.Arg45Trp, XP_005263613.1:p.Arg135Trp, XP_047298058.1:p.Arg152Trp, XP_047298055.1:p.Arg135Trp

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