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1.

rs1489865821 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G,T [Show Flanks]
    Chromosome:
    22:17726759 (GRCh38)
    22:18209525 (GRCh37)
    Canonical SPDI:
    NC_000022.11:17726758:C:G,NC_000022.11:17726758:C:T
    Gene:
    BCL2L13 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.00007/1 (ALFA)
    G=0.00022/1 (Estonian)
    HGVS:
    NC_000022.11:g.17726759C>G, NC_000022.11:g.17726759C>T, NC_000022.10:g.18209525C>G, NC_000022.10:g.18209525C>T, NM_015367.4:c.683C>G, NM_015367.4:c.683C>T, NM_015367.3:c.683C>G, NM_015367.3:c.683C>T, XM_011546120.2:c.755C>G, XM_011546120.2:c.755C>T, XM_011546120.1:c.755C>G, XM_011546120.1:c.755C>T, XM_011546119.2:c.755C>G, XM_011546119.2:c.755C>T, XM_011546119.1:c.755C>G, XM_011546119.1:c.755C>T, XM_017028725.2:c.611C>G, XM_017028725.2:c.611C>T, XM_017028725.1:c.611C>G, XM_017028725.1:c.611C>T, NM_001270731.2:c.197C>G, NM_001270731.2:c.197C>T, NM_001270731.1:c.197C>G, NM_001270731.1:c.197C>T, NM_001270729.2:c.197C>G, NM_001270729.2:c.197C>T, NM_001270729.1:c.197C>G, NM_001270729.1:c.197C>T, NM_001270734.2:c.469C>G, NM_001270734.2:c.469C>T, NM_001270734.1:c.469C>G, NM_001270734.1:c.469C>T, NM_001270732.2:c.*69C>G, NM_001270732.2:c.*69C>T, NM_001270732.1:c.*69C>G, NM_001270732.1:c.*69C>T, NM_001270730.2:c.197C>G, NM_001270730.2:c.197C>T, NM_001270730.1:c.197C>G, NM_001270730.1:c.197C>T, NM_001270728.2:c.*69C>G, NM_001270728.2:c.*69C>T, NM_001270728.1:c.*69C>G, NM_001270728.1:c.*69C>T, NM_001270735.2:c.*69C>G, NM_001270735.2:c.*69C>T, NM_001270735.1:c.*69C>G, NM_001270735.1:c.*69C>T, NM_001270733.2:c.-158C>G, NM_001270733.2:c.-158C>T, NM_001270733.1:c.-158C>G, NM_001270733.1:c.-158C>T, XM_047441286.1:c.755C>G, XM_047441286.1:c.755C>T, XM_047441287.1:c.539C>G, XM_047441287.1:c.539C>T, XM_047441291.1:c.469C>G, XM_047441291.1:c.469C>T, NM_001270726.1:c.755C>G, NM_001270726.1:c.755C>T, XM_047441288.1:c.386C>G, XM_047441288.1:c.386C>T, NM_001270727.1:c.611C>G, NM_001270727.1:c.611C>T, NR_073068.1:n.634C>G, NR_073068.1:n.634C>T, XM_047441289.1:c.197C>G, XM_047441289.1:c.197C>T, NR_073069.1:n.617C>G, NR_073069.1:n.617C>T, NP_056182.2:p.Pro228Arg, NP_056182.2:p.Pro228Leu, XP_011544422.1:p.Pro252Arg, XP_011544422.1:p.Pro252Leu, XP_011544421.1:p.Pro252Arg, XP_011544421.1:p.Pro252Leu, XP_016884214.1:p.Pro204Arg, XP_016884214.1:p.Pro204Leu, NP_001257660.1:p.Pro66Arg, NP_001257660.1:p.Pro66Leu, NP_001257658.1:p.Pro66Arg, NP_001257658.1:p.Pro66Leu, NP_001257663.1:p.Pro157Ala, NP_001257663.1:p.Pro157Ser, NP_001257659.1:p.Pro66Arg, NP_001257659.1:p.Pro66Leu, XP_047297242.1:p.Pro252Arg, XP_047297242.1:p.Pro252Leu, XP_047297243.1:p.Pro180Arg, XP_047297243.1:p.Pro180Leu, XP_047297247.1:p.Pro157Ala, XP_047297247.1:p.Pro157Ser, NP_001257655.1:p.Pro252Arg, NP_001257655.1:p.Pro252Leu, XP_047297244.1:p.Pro129Arg, XP_047297244.1:p.Pro129Leu, NP_001257656.1:p.Pro204Arg, NP_001257656.1:p.Pro204Leu, XP_047297245.1:p.Pro66Arg, XP_047297245.1:p.Pro66Leu

    2.

    rs1488816236 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      22:17726762 (GRCh38)
      22:18209528 (GRCh37)
      Canonical SPDI:
      NC_000022.11:17726761:G:C
      Gene:
      BCL2L13 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000022.11:g.17726762G>C, NC_000022.10:g.18209528G>C, NM_015367.4:c.686G>C, NM_015367.3:c.686G>C, XM_011546120.2:c.758G>C, XM_011546120.1:c.758G>C, XM_011546119.2:c.758G>C, XM_011546119.1:c.758G>C, XM_017028725.2:c.614G>C, XM_017028725.1:c.614G>C, NM_001270731.2:c.200G>C, NM_001270731.1:c.200G>C, NM_001270729.2:c.200G>C, NM_001270729.1:c.200G>C, NM_001270734.2:c.472G>C, NM_001270734.1:c.472G>C, NM_001270732.2:c.*72G>C, NM_001270732.1:c.*72G>C, NM_001270730.2:c.200G>C, NM_001270730.1:c.200G>C, NM_001270728.2:c.*72G>C, NM_001270728.1:c.*72G>C, NM_001270735.2:c.*72G>C, NM_001270735.1:c.*72G>C, NM_001270733.2:c.-155G>C, NM_001270733.1:c.-155G>C, XM_047441286.1:c.758G>C, XM_047441287.1:c.542G>C, XM_047441291.1:c.472G>C, NM_001270726.1:c.758G>C, XM_047441288.1:c.389G>C, NM_001270727.1:c.614G>C, NR_073068.1:n.637G>C, XM_047441289.1:c.200G>C, NR_073069.1:n.620G>C, NP_056182.2:p.Ser229Thr, XP_011544422.1:p.Ser253Thr, XP_011544421.1:p.Ser253Thr, XP_016884214.1:p.Ser205Thr, NP_001257660.1:p.Ser67Thr, NP_001257658.1:p.Ser67Thr, NP_001257663.1:p.Ala158Pro, NP_001257659.1:p.Ser67Thr, XP_047297242.1:p.Ser253Thr, XP_047297243.1:p.Ser181Thr, XP_047297247.1:p.Ala158Pro, NP_001257655.1:p.Ser253Thr, XP_047297244.1:p.Ser130Thr, NP_001257656.1:p.Ser205Thr, XP_047297245.1:p.Ser67Thr

      3.

      rs1488200816 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        22:17729126 (GRCh38)
        22:18211892 (GRCh37)
        Canonical SPDI:
        NC_000022.11:17729125:C:T
        Gene:
        BCL2L13 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000022.11:g.17729126C>T, NC_000022.10:g.18211892C>T, NM_015367.4:c.*1592C>T, NM_015367.3:c.*1592C>T, XM_011546120.2:c.*1592C>T, XM_011546120.1:c.*1592C>T, XM_011546119.2:c.*1592C>T, XM_011546119.1:c.*1592C>T, XM_017028725.2:c.*1592C>T, XM_017028725.1:c.*1592C>T, NM_001270731.2:c.*1592C>T, NM_001270731.1:c.*1592C>T, NM_001270729.2:c.*1592C>T, NM_001270729.1:c.*1592C>T, NM_001270734.2:c.*2320C>T, NM_001270734.1:c.*2320C>T, NM_001270732.2:c.*2436C>T, NM_001270732.1:c.*2436C>T, NM_001270730.2:c.*1592C>T, NM_001270730.1:c.*1592C>T, NM_001270728.2:c.*2436C>T, NM_001270728.1:c.*2436C>T, NM_001270735.2:c.*2436C>T, NM_001270735.1:c.*2436C>T, NM_001270733.2:c.*1592C>T, NM_001270733.1:c.*1592C>T, XM_047441286.1:c.*1592C>T, XM_047441287.1:c.*1592C>T, XM_047441291.1:c.*2320C>T, NM_001270726.1:c.*1592C>T, XM_047441288.1:c.*1592C>T, NM_001270727.1:c.*1592C>T, NR_073068.1:n.3001C>T, XM_047441289.1:c.*1592C>T, NR_073069.1:n.2984C>T

        4.

        rs1488035814 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          22:17638849 (GRCh38)
          22:18121615 (GRCh37)
          Canonical SPDI:
          NC_000022.11:17638848:G:A
          Gene:
          BCL2L13 (Varview)
          Functional Consequence:
          intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          A=0./0 (ALFA)
          A=0.000014/2 (GnomAD)
          HGVS:

          5.

          rs1486578908 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            22:17728176 (GRCh38)
            22:18210942 (GRCh37)
            Canonical SPDI:
            NC_000022.11:17728175:C:G,NC_000022.11:17728175:C:T
            Gene:
            BCL2L13 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000007/1 (GnomAD)
            HGVS:
            NC_000022.11:g.17728176C>G, NC_000022.11:g.17728176C>T, NC_000022.10:g.18210942C>G, NC_000022.10:g.18210942C>T, NM_015367.4:c.*642C>G, NM_015367.4:c.*642C>T, NM_015367.3:c.*642C>G, NM_015367.3:c.*642C>T, XM_011546120.2:c.*642C>G, XM_011546120.2:c.*642C>T, XM_011546120.1:c.*642C>G, XM_011546120.1:c.*642C>T, XM_011546119.2:c.*642C>G, XM_011546119.2:c.*642C>T, XM_011546119.1:c.*642C>G, XM_011546119.1:c.*642C>T, XM_017028725.2:c.*642C>G, XM_017028725.2:c.*642C>T, XM_017028725.1:c.*642C>G, XM_017028725.1:c.*642C>T, NM_001270731.2:c.*642C>G, NM_001270731.2:c.*642C>T, NM_001270731.1:c.*642C>G, NM_001270731.1:c.*642C>T, NM_001270729.2:c.*642C>G, NM_001270729.2:c.*642C>T, NM_001270729.1:c.*642C>G, NM_001270729.1:c.*642C>T, NM_001270734.2:c.*1370C>G, NM_001270734.2:c.*1370C>T, NM_001270734.1:c.*1370C>G, NM_001270734.1:c.*1370C>T, NM_001270732.2:c.*1486C>G, NM_001270732.2:c.*1486C>T, NM_001270732.1:c.*1486C>G, NM_001270732.1:c.*1486C>T, NM_001270730.2:c.*642C>G, NM_001270730.2:c.*642C>T, NM_001270730.1:c.*642C>G, NM_001270730.1:c.*642C>T, NM_001270728.2:c.*1486C>G, NM_001270728.2:c.*1486C>T, NM_001270728.1:c.*1486C>G, NM_001270728.1:c.*1486C>T, NM_001270735.2:c.*1486C>G, NM_001270735.2:c.*1486C>T, NM_001270735.1:c.*1486C>G, NM_001270735.1:c.*1486C>T, NM_001270733.2:c.*642C>G, NM_001270733.2:c.*642C>T, NM_001270733.1:c.*642C>G, NM_001270733.1:c.*642C>T, XM_047441286.1:c.*642C>G, XM_047441286.1:c.*642C>T, XM_047441287.1:c.*642C>G, XM_047441287.1:c.*642C>T, XM_047441291.1:c.*1370C>G, XM_047441291.1:c.*1370C>T, NM_001270726.1:c.*642C>G, NM_001270726.1:c.*642C>T, XM_047441288.1:c.*642C>G, XM_047441288.1:c.*642C>T, NM_001270727.1:c.*642C>G, NM_001270727.1:c.*642C>T, NR_073068.1:n.2051C>G, NR_073068.1:n.2051C>T, XM_047441289.1:c.*642C>G, XM_047441289.1:c.*642C>T, NR_073069.1:n.2034C>G, NR_073069.1:n.2034C>T

            6.

            rs1486504286 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              22:17727554 (GRCh38)
              22:18210320 (GRCh37)
              Canonical SPDI:
              NC_000022.11:17727553:A:G
              Gene:
              BCL2L13 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0./0 (GnomAD)
              G=0.000004/1 (TOPMED)
              G=0.000012/3 (GnomAD_exomes)
              HGVS:
              NC_000022.11:g.17727554A>G, NC_000022.10:g.18210320A>G, NM_015367.4:c.*20A>G, NM_015367.3:c.*20A>G, XM_011546120.2:c.*20A>G, XM_011546120.1:c.*20A>G, XM_011546119.2:c.*20A>G, XM_011546119.1:c.*20A>G, XM_017028725.2:c.*20A>G, XM_017028725.1:c.*20A>G, NM_001270731.2:c.*20A>G, NM_001270731.1:c.*20A>G, NM_001270729.2:c.*20A>G, NM_001270729.1:c.*20A>G, NM_001270734.2:c.*748A>G, NM_001270734.1:c.*748A>G, NM_001270732.2:c.*864A>G, NM_001270732.1:c.*864A>G, NM_001270730.2:c.*20A>G, NM_001270730.1:c.*20A>G, NM_001270728.2:c.*864A>G, NM_001270728.1:c.*864A>G, NM_001270735.2:c.*864A>G, NM_001270735.1:c.*864A>G, NM_001270733.2:c.*20A>G, NM_001270733.1:c.*20A>G, XM_047441286.1:c.*20A>G, XM_047441287.1:c.*20A>G, XM_047441291.1:c.*748A>G, NM_001270726.1:c.*20A>G, XM_047441288.1:c.*20A>G, NM_001270727.1:c.*20A>G, NR_073068.1:n.1429A>G, XM_047441289.1:c.*20A>G, NR_073069.1:n.1412A>G

              7.

              rs1485978997 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                22:17638748 (GRCh38)
                22:18121514 (GRCh37)
                Canonical SPDI:
                NC_000022.11:17638747:G:A,NC_000022.11:17638747:G:C,NC_000022.11:17638747:G:T
                Gene:
                BCL2L13 (Varview)
                Functional Consequence:
                intron_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                HGVS:
                NC_000022.11:g.17638748G>A, NC_000022.11:g.17638748G>C, NC_000022.11:g.17638748G>T, NC_000022.10:g.18121514G>A, NC_000022.10:g.18121514G>C, NC_000022.10:g.18121514G>T, NM_015367.3:c.-189G>A, NM_015367.3:c.-189G>C, NM_015367.3:c.-189G>T, XM_011546120.2:c.55G>A, XM_011546120.2:c.55G>C, XM_011546120.2:c.55G>T, XM_011546120.1:c.55G>A, XM_011546120.1:c.55G>C, XM_011546120.1:c.55G>T, XM_011546119.2:c.55G>A, XM_011546119.2:c.55G>C, XM_011546119.2:c.55G>T, XM_011546119.1:c.55G>A, XM_011546119.1:c.55G>C, XM_011546119.1:c.55G>T, XM_017028725.2:c.55G>A, XM_017028725.2:c.55G>C, XM_017028725.2:c.55G>T, XM_017028725.1:c.55G>A, XM_017028725.1:c.55G>C, XM_017028725.1:c.55G>T, XM_047441286.1:c.55G>A, XM_047441286.1:c.55G>C, XM_047441286.1:c.55G>T, NM_001270731.1:c.-605G>A, NM_001270731.1:c.-605G>C, NM_001270731.1:c.-605G>T, NM_001270729.1:c.-518G>A, NM_001270729.1:c.-518G>C, NM_001270729.1:c.-518G>T, NM_001270726.1:c.55G>A, NM_001270726.1:c.55G>C, NM_001270726.1:c.55G>T, NM_001270734.1:c.-189G>A, NM_001270734.1:c.-189G>C, NM_001270734.1:c.-189G>T, NM_001270732.1:c.-189G>A, NM_001270732.1:c.-189G>C, NM_001270732.1:c.-189G>T, NM_001270727.1:c.55G>A, NM_001270727.1:c.55G>C, NM_001270727.1:c.55G>T, NM_001270730.1:c.-347G>A, NM_001270730.1:c.-347G>C, NM_001270730.1:c.-347G>T, NM_001270728.1:c.-189G>A, NM_001270728.1:c.-189G>C, NM_001270728.1:c.-189G>T, NM_001270735.1:c.-189G>A, NM_001270735.1:c.-189G>C, NM_001270735.1:c.-189G>T, NM_001363824.1:c.-189G>A, NM_001363824.1:c.-189G>C, NM_001363824.1:c.-189G>T, XP_011544422.1:p.Gly19Ser, XP_011544422.1:p.Gly19Arg, XP_011544422.1:p.Gly19Cys, XP_011544421.1:p.Gly19Ser, XP_011544421.1:p.Gly19Arg, XP_011544421.1:p.Gly19Cys, XP_016884214.1:p.Gly19Ser, XP_016884214.1:p.Gly19Arg, XP_016884214.1:p.Gly19Cys, XP_047297242.1:p.Gly19Ser, XP_047297242.1:p.Gly19Arg, XP_047297242.1:p.Gly19Cys, NP_001257655.1:p.Gly19Ser, NP_001257655.1:p.Gly19Arg, NP_001257655.1:p.Gly19Cys, NP_001257656.1:p.Gly19Ser, NP_001257656.1:p.Gly19Arg, NP_001257656.1:p.Gly19Cys

                8.

                rs1485419371 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  22:17729882 (GRCh38)
                  22:18212648 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:17729881:C:A,NC_000022.11:17729881:C:T
                  Gene:
                  BCL2L13 (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  HGVS:
                  NC_000022.11:g.17729882C>A, NC_000022.11:g.17729882C>T, NC_000022.10:g.18212648C>A, NC_000022.10:g.18212648C>T, NM_015367.4:c.*2348C>A, NM_015367.4:c.*2348C>T, NM_015367.3:c.*2348C>A, NM_015367.3:c.*2348C>T, XM_011546120.2:c.*2348C>A, XM_011546120.2:c.*2348C>T, XM_011546119.2:c.*2348C>A, XM_011546119.2:c.*2348C>T, XM_017028725.2:c.*2348C>A, XM_017028725.2:c.*2348C>T, NM_001270731.2:c.*2348C>A, NM_001270731.2:c.*2348C>T, NM_001270731.1:c.*2348C>A, NM_001270731.1:c.*2348C>T, NM_001270729.2:c.*2348C>A, NM_001270729.2:c.*2348C>T, NM_001270729.1:c.*2348C>A, NM_001270729.1:c.*2348C>T, NM_001270734.2:c.*3076C>A, NM_001270734.2:c.*3076C>T, NM_001270734.1:c.*3076C>A, NM_001270734.1:c.*3076C>T, NM_001270732.2:c.*3192C>A, NM_001270732.2:c.*3192C>T, NM_001270732.1:c.*3192C>A, NM_001270732.1:c.*3192C>T, NM_001270730.2:c.*2348C>A, NM_001270730.2:c.*2348C>T, NM_001270730.1:c.*2348C>A, NM_001270730.1:c.*2348C>T, NM_001270728.2:c.*3192C>A, NM_001270728.2:c.*3192C>T, NM_001270728.1:c.*3192C>A, NM_001270728.1:c.*3192C>T, NM_001270735.2:c.*3192C>A, NM_001270735.2:c.*3192C>T, NM_001270735.1:c.*3192C>A, NM_001270735.1:c.*3192C>T, NM_001270733.2:c.*2348C>A, NM_001270733.2:c.*2348C>T, NM_001270733.1:c.*2348C>A, NM_001270733.1:c.*2348C>T, XM_047441286.1:c.*2348C>A, XM_047441286.1:c.*2348C>T, XM_047441287.1:c.*2348C>A, XM_047441287.1:c.*2348C>T, XM_047441291.1:c.*3076C>A, XM_047441291.1:c.*3076C>T, NM_001270726.1:c.*2348C>A, NM_001270726.1:c.*2348C>T, XM_047441288.1:c.*2348C>A, XM_047441288.1:c.*2348C>T, NM_001270727.1:c.*2348C>A, NM_001270727.1:c.*2348C>T, NR_073068.1:n.3757C>A, NR_073068.1:n.3757C>T, XM_047441289.1:c.*2348C>A, XM_047441289.1:c.*2348C>T, NR_073069.1:n.3740C>A, NR_073069.1:n.3740C>T

                  9.

                  rs1485069629 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    22:17638823 (GRCh38)
                    22:18121589 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:17638822:C:A,NC_000022.11:17638822:C:T
                    Gene:
                    BCL2L13 (Varview)
                    Functional Consequence:
                    intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000022.11:g.17638823C>A, NC_000022.11:g.17638823C>T, NC_000022.10:g.18121589C>A, NC_000022.10:g.18121589C>T, NM_015367.4:c.-114C>A, NM_015367.4:c.-114C>T, NM_015367.3:c.-114C>A, NM_015367.3:c.-114C>T, XM_011546120.2:c.130C>A, XM_011546120.2:c.130C>T, XM_011546120.1:c.130C>A, XM_011546120.1:c.130C>T, XM_011546119.2:c.130C>A, XM_011546119.2:c.130C>T, XM_011546119.1:c.130C>A, XM_011546119.1:c.130C>T, XM_017028725.2:c.130C>A, XM_017028725.2:c.130C>T, XM_017028725.1:c.130C>A, XM_017028725.1:c.130C>T, NM_001270731.2:c.-530C>A, NM_001270731.2:c.-530C>T, NM_001270731.1:c.-530C>A, NM_001270731.1:c.-530C>T, NM_001270729.2:c.-443C>A, NM_001270729.2:c.-443C>T, NM_001270729.1:c.-443C>A, NM_001270729.1:c.-443C>T, NM_001270734.2:c.-114C>A, NM_001270734.2:c.-114C>T, NM_001270734.1:c.-114C>A, NM_001270734.1:c.-114C>T, NM_001270732.2:c.-114C>A, NM_001270732.2:c.-114C>T, NM_001270732.1:c.-114C>A, NM_001270732.1:c.-114C>T, NM_001270730.2:c.-272C>A, NM_001270730.2:c.-272C>T, NM_001270730.1:c.-272C>A, NM_001270730.1:c.-272C>T, NM_001270728.2:c.-114C>A, NM_001270728.2:c.-114C>T, NM_001270728.1:c.-114C>A, NM_001270728.1:c.-114C>T, NM_001270735.2:c.-114C>A, NM_001270735.2:c.-114C>T, NM_001270735.1:c.-114C>A, NM_001270735.1:c.-114C>T, XM_047441286.1:c.130C>A, XM_047441286.1:c.130C>T, NM_001270726.1:c.130C>A, NM_001270726.1:c.130C>T, NM_001270727.1:c.130C>A, NM_001270727.1:c.130C>T, NM_001363824.1:c.-114C>A, NM_001363824.1:c.-114C>T, XP_011544422.1:p.Pro44Thr, XP_011544422.1:p.Pro44Ser, XP_011544421.1:p.Pro44Thr, XP_011544421.1:p.Pro44Ser, XP_016884214.1:p.Pro44Thr, XP_016884214.1:p.Pro44Ser, XP_047297242.1:p.Pro44Thr, XP_047297242.1:p.Pro44Ser, NP_001257655.1:p.Pro44Thr, NP_001257655.1:p.Pro44Ser, NP_001257656.1:p.Pro44Thr, NP_001257656.1:p.Pro44Ser

                    10.

                    rs1485041466 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      22:17730430 (GRCh38)
                      22:18213196 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:17730429:G:A
                      Gene:
                      BCL2L13 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_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_000022.11:g.17730430G>A, NC_000022.10:g.18213196G>A, NM_015367.4:c.*2896G>A, NM_015367.3:c.*2896G>A, XM_011546120.2:c.*2896G>A, XM_011546119.2:c.*2896G>A, XM_017028725.2:c.*2896G>A, NM_001270731.2:c.*2896G>A, NM_001270731.1:c.*2896G>A, NM_001270729.2:c.*2896G>A, NM_001270729.1:c.*2896G>A, NM_001270734.2:c.*3624G>A, NM_001270734.1:c.*3624G>A, NM_001270732.2:c.*3740G>A, NM_001270732.1:c.*3740G>A, NM_001270730.2:c.*2896G>A, NM_001270730.1:c.*2896G>A, NM_001270728.2:c.*3740G>A, NM_001270728.1:c.*3740G>A, NM_001270735.2:c.*3740G>A, NM_001270735.1:c.*3740G>A, NM_001270733.2:c.*2896G>A, NM_001270733.1:c.*2896G>A, XM_047441286.1:c.*2896G>A, XM_047441287.1:c.*2896G>A, XM_047441291.1:c.*3624G>A, NM_001270726.1:c.*2896G>A, XM_047441288.1:c.*2896G>A, NM_001270727.1:c.*2896G>A, NR_073068.1:n.4305G>A, XM_047441289.1:c.*2896G>A, NR_073069.1:n.4288G>A

                      11.

                      rs1484620554 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        22:17730158 (GRCh38)
                        22:18212924 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:17730157:A:G
                        Gene:
                        BCL2L13 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000064/17 (TOPMED)
                        G=0.000071/10 (GnomAD)
                        HGVS:
                        NC_000022.11:g.17730158A>G, NC_000022.10:g.18212924A>G, NM_015367.4:c.*2624A>G, NM_015367.3:c.*2624A>G, XM_011546120.2:c.*2624A>G, XM_011546119.2:c.*2624A>G, XM_017028725.2:c.*2624A>G, NM_001270731.2:c.*2624A>G, NM_001270731.1:c.*2624A>G, NM_001270729.2:c.*2624A>G, NM_001270729.1:c.*2624A>G, NM_001270734.2:c.*3352A>G, NM_001270734.1:c.*3352A>G, NM_001270732.2:c.*3468A>G, NM_001270732.1:c.*3468A>G, NM_001270730.2:c.*2624A>G, NM_001270730.1:c.*2624A>G, NM_001270728.2:c.*3468A>G, NM_001270728.1:c.*3468A>G, NM_001270735.2:c.*3468A>G, NM_001270735.1:c.*3468A>G, NM_001270733.2:c.*2624A>G, NM_001270733.1:c.*2624A>G, XM_047441286.1:c.*2624A>G, XM_047441287.1:c.*2624A>G, XM_047441291.1:c.*3352A>G, NM_001270726.1:c.*2624A>G, XM_047441288.1:c.*2624A>G, NM_001270727.1:c.*2624A>G, NR_073068.1:n.4033A>G, XM_047441289.1:c.*2624A>G, NR_073069.1:n.4016A>G

                        12.

                        rs1484554137 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          22:17726867 (GRCh38)
                          22:18209633 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:17726866:C:A
                          Gene:
                          BCL2L13 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,3_prime_UTR_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0.000111/1 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000022.11:g.17726867C>A, NC_000022.10:g.18209633C>A, NM_015367.4:c.791C>A, NM_015367.3:c.791C>A, XM_011546120.2:c.863C>A, XM_011546120.1:c.863C>A, XM_011546119.2:c.863C>A, XM_011546119.1:c.863C>A, XM_017028725.2:c.719C>A, XM_017028725.1:c.719C>A, NM_001270731.2:c.305C>A, NM_001270731.1:c.305C>A, NM_001270729.2:c.305C>A, NM_001270729.1:c.305C>A, NM_001270734.2:c.*61C>A, NM_001270734.1:c.*61C>A, NM_001270732.2:c.*177C>A, NM_001270732.1:c.*177C>A, NM_001270730.2:c.305C>A, NM_001270730.1:c.305C>A, NM_001270728.2:c.*177C>A, NM_001270728.1:c.*177C>A, NM_001270735.2:c.*177C>A, NM_001270735.1:c.*177C>A, NM_001270733.2:c.-50C>A, NM_001270733.1:c.-50C>A, XM_047441286.1:c.863C>A, XM_047441287.1:c.647C>A, XM_047441291.1:c.*61C>A, NM_001270726.1:c.863C>A, XM_047441288.1:c.494C>A, NM_001270727.1:c.719C>A, NR_073068.1:n.742C>A, XM_047441289.1:c.305C>A, NR_073069.1:n.725C>A, NP_056182.2:p.Thr264Lys, XP_011544422.1:p.Thr288Lys, XP_011544421.1:p.Thr288Lys, XP_016884214.1:p.Thr240Lys, NP_001257660.1:p.Thr102Lys, NP_001257658.1:p.Thr102Lys, NP_001257659.1:p.Thr102Lys, XP_047297242.1:p.Thr288Lys, XP_047297243.1:p.Thr216Lys, NP_001257655.1:p.Thr288Lys, XP_047297244.1:p.Thr165Lys, NP_001257656.1:p.Thr240Lys, XP_047297245.1:p.Thr102Lys

                          13.

                          rs1484023451 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            22:17728917 (GRCh38)
                            22:18211683 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:17728916:G:A
                            Gene:
                            BCL2L13 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000142/2 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000026/7 (TOPMED)
                            A=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000022.11:g.17728917G>A, NC_000022.10:g.18211683G>A, NM_015367.4:c.*1383G>A, NM_015367.3:c.*1383G>A, XM_011546120.2:c.*1383G>A, XM_011546120.1:c.*1383G>A, XM_011546119.2:c.*1383G>A, XM_011546119.1:c.*1383G>A, XM_017028725.2:c.*1383G>A, XM_017028725.1:c.*1383G>A, NM_001270731.2:c.*1383G>A, NM_001270731.1:c.*1383G>A, NM_001270729.2:c.*1383G>A, NM_001270729.1:c.*1383G>A, NM_001270734.2:c.*2111G>A, NM_001270734.1:c.*2111G>A, NM_001270732.2:c.*2227G>A, NM_001270732.1:c.*2227G>A, NM_001270730.2:c.*1383G>A, NM_001270730.1:c.*1383G>A, NM_001270728.2:c.*2227G>A, NM_001270728.1:c.*2227G>A, NM_001270735.2:c.*2227G>A, NM_001270735.1:c.*2227G>A, NM_001270733.2:c.*1383G>A, NM_001270733.1:c.*1383G>A, XM_047441286.1:c.*1383G>A, XM_047441287.1:c.*1383G>A, XM_047441291.1:c.*2111G>A, NM_001270726.1:c.*1383G>A, XM_047441288.1:c.*1383G>A, NM_001270727.1:c.*1383G>A, NR_073068.1:n.2792G>A, XM_047441289.1:c.*1383G>A, NR_073069.1:n.2775G>A

                            14.

                            rs1483719924 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              22:17638782 (GRCh38)
                              22:18121548 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:17638781:G:A
                              Gene:
                              BCL2L13 (Varview)
                              Functional Consequence:
                              intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000038/10 (TOPMED)
                              HGVS:
                              NC_000022.11:g.17638782G>A, NC_000022.10:g.18121548G>A, NM_015367.4:c.-155G>A, NM_015367.3:c.-155G>A, XM_011546120.2:c.89G>A, XM_011546120.1:c.89G>A, XM_011546119.2:c.89G>A, XM_011546119.1:c.89G>A, XM_017028725.2:c.89G>A, XM_017028725.1:c.89G>A, NM_001270731.2:c.-571G>A, NM_001270731.1:c.-571G>A, NM_001270729.2:c.-484G>A, NM_001270729.1:c.-484G>A, NM_001270734.2:c.-155G>A, NM_001270734.1:c.-155G>A, NM_001270732.2:c.-155G>A, NM_001270732.1:c.-155G>A, NM_001270730.2:c.-313G>A, NM_001270730.1:c.-313G>A, NM_001270728.2:c.-155G>A, NM_001270728.1:c.-155G>A, NM_001270735.2:c.-155G>A, NM_001270735.1:c.-155G>A, XM_047441286.1:c.89G>A, NM_001270726.1:c.89G>A, NM_001270727.1:c.89G>A, NM_001363824.1:c.-155G>A, XP_011544422.1:p.Arg30Lys, XP_011544421.1:p.Arg30Lys, XP_016884214.1:p.Arg30Lys, XP_047297242.1:p.Arg30Lys, NP_001257655.1:p.Arg30Lys, NP_001257656.1:p.Arg30Lys

                              15.

                              rs1483448076 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->T [Show Flanks]
                                Chromosome:
                                22:17728898 (GRCh38)
                                22:18211665 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:17728898:T:TT
                                Gene:
                                BCL2L13 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                TT=0./0 (ALFA)
                                T=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000022.11:g.17728899dup, NC_000022.10:g.18211665dup, NM_015367.4:c.*1365dup, NM_015367.3:c.*1365dup, XM_011546120.2:c.*1365dup, XM_011546120.1:c.*1365dup, XM_011546119.2:c.*1365dup, XM_011546119.1:c.*1365dup, XM_017028725.2:c.*1365dup, XM_017028725.1:c.*1365dup, NM_001270731.2:c.*1365dup, NM_001270731.1:c.*1365dup, NM_001270729.2:c.*1365dup, NM_001270729.1:c.*1365dup, NM_001270734.2:c.*2093dup, NM_001270734.1:c.*2093dup, NM_001270732.2:c.*2209dup, NM_001270732.1:c.*2209dup, NM_001270730.2:c.*1365dup, NM_001270730.1:c.*1365dup, NM_001270728.2:c.*2209dup, NM_001270728.1:c.*2209dup, NM_001270735.2:c.*2209dup, NM_001270735.1:c.*2209dup, NM_001270733.2:c.*1365dup, NM_001270733.1:c.*1365dup, XM_047441286.1:c.*1365dup, XM_047441287.1:c.*1365dup, XM_047441291.1:c.*2093dup, NM_001270726.1:c.*1365dup, XM_047441288.1:c.*1365dup, NM_001270727.1:c.*1365dup, NR_073068.1:n.2774dup, XM_047441289.1:c.*1365dup, NR_073069.1:n.2757dup

                                16.

                                rs1482620175 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  22:17728412 (GRCh38)
                                  22:18211178 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:17728411:G:A
                                  Gene:
                                  BCL2L13 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000022.11:g.17728412G>A, NC_000022.10:g.18211178G>A, NM_015367.4:c.*878G>A, NM_015367.3:c.*878G>A, XM_011546120.2:c.*878G>A, XM_011546120.1:c.*878G>A, XM_011546119.2:c.*878G>A, XM_011546119.1:c.*878G>A, XM_017028725.2:c.*878G>A, XM_017028725.1:c.*878G>A, NM_001270731.2:c.*878G>A, NM_001270731.1:c.*878G>A, NM_001270729.2:c.*878G>A, NM_001270729.1:c.*878G>A, NM_001270734.2:c.*1606G>A, NM_001270734.1:c.*1606G>A, NM_001270732.2:c.*1722G>A, NM_001270732.1:c.*1722G>A, NM_001270730.2:c.*878G>A, NM_001270730.1:c.*878G>A, NM_001270728.2:c.*1722G>A, NM_001270728.1:c.*1722G>A, NM_001270735.2:c.*1722G>A, NM_001270735.1:c.*1722G>A, NM_001270733.2:c.*878G>A, NM_001270733.1:c.*878G>A, XM_047441286.1:c.*878G>A, XM_047441287.1:c.*878G>A, XM_047441291.1:c.*1606G>A, NM_001270726.1:c.*878G>A, XM_047441288.1:c.*878G>A, NM_001270727.1:c.*878G>A, NR_073068.1:n.2287G>A, XM_047441289.1:c.*878G>A, NR_073069.1:n.2270G>A

                                  17.

                                  rs1482480185 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    22:17683226 (GRCh38)
                                    22:18165992 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:17683225:A:G
                                    Gene:
                                    BCL2L13 (Varview)
                                    Functional Consequence:
                                    intron_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000012/3 (GnomAD_exomes)
                                    G=0.000071/1 (TOMMO)
                                    HGVS:
                                    NC_000022.11:g.17683226A>G, NC_000022.10:g.18165992A>G, NM_015367.4:c.134A>G, NM_015367.3:c.134A>G, XM_011546120.2:c.206A>G, XM_011546120.1:c.206A>G, XM_011546119.2:c.206A>G, XM_011546119.1:c.206A>G, XM_017028725.2:c.206A>G, XM_017028725.1:c.206A>G, NM_001270731.2:c.-283A>G, NM_001270731.1:c.-283A>G, NM_001270729.2:c.-196A>G, NM_001270729.1:c.-196A>G, NM_001270734.2:c.134A>G, NM_001270734.1:c.134A>G, NM_001270732.2:c.134A>G, NM_001270732.1:c.134A>G, NM_001270730.2:c.-196A>G, NM_001270730.1:c.-196A>G, NM_001270735.2:c.134A>G, NM_001270735.1:c.134A>G, XM_047441286.1:c.206A>G, XM_047441287.1:c.134A>G, XM_047441291.1:c.134A>G, NM_001270726.1:c.206A>G, XM_047441288.1:c.-164A>G, NM_001270727.1:c.206A>G, NR_073068.1:n.299A>G, XM_047441289.1:c.-126A>G, NR_073069.1:n.184A>G, XM_047441290.1:c.134A>G, NM_001363824.1:c.134A>G, XM_047441292.1:c.134A>G, XM_047441293.1:c.134A>G, XM_047441294.1:c.134A>G, NP_056182.2:p.Asp45Gly, XP_011544422.1:p.Asp69Gly, XP_011544421.1:p.Asp69Gly, XP_016884214.1:p.Asp69Gly, NP_001257663.1:p.Asp45Gly, NP_001257661.1:p.Asp45Gly, NP_001257664.1:p.Asp45Gly, XP_047297242.1:p.Asp69Gly, XP_047297243.1:p.Asp45Gly, XP_047297247.1:p.Asp45Gly, NP_001257655.1:p.Asp69Gly, NP_001257656.1:p.Asp69Gly, XP_047297246.1:p.Asp45Gly, NP_001350753.1:p.Asp45Gly, XP_047297248.1:p.Asp45Gly, XP_047297249.1:p.Asp45Gly, XP_047297250.1:p.Asp45Gly

                                    18.

                                    rs1482428584 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      22:17728569 (GRCh38)
                                      22:18211335 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:17728568:A:G
                                      Gene:
                                      BCL2L13 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000071/1 (ALFA)
                                      G=0.000038/10 (TOPMED)
                                      G=0.000043/6 (GnomAD)
                                      HGVS:
                                      NC_000022.11:g.17728569A>G, NC_000022.10:g.18211335A>G, NM_015367.4:c.*1035A>G, NM_015367.3:c.*1035A>G, XM_011546120.2:c.*1035A>G, XM_011546120.1:c.*1035A>G, XM_011546119.2:c.*1035A>G, XM_011546119.1:c.*1035A>G, XM_017028725.2:c.*1035A>G, XM_017028725.1:c.*1035A>G, NM_001270731.2:c.*1035A>G, NM_001270731.1:c.*1035A>G, NM_001270729.2:c.*1035A>G, NM_001270729.1:c.*1035A>G, NM_001270734.2:c.*1763A>G, NM_001270734.1:c.*1763A>G, NM_001270732.2:c.*1879A>G, NM_001270732.1:c.*1879A>G, NM_001270730.2:c.*1035A>G, NM_001270730.1:c.*1035A>G, NM_001270728.2:c.*1879A>G, NM_001270728.1:c.*1879A>G, NM_001270735.2:c.*1879A>G, NM_001270735.1:c.*1879A>G, NM_001270733.2:c.*1035A>G, NM_001270733.1:c.*1035A>G, XM_047441286.1:c.*1035A>G, XM_047441287.1:c.*1035A>G, XM_047441291.1:c.*1763A>G, NM_001270726.1:c.*1035A>G, XM_047441288.1:c.*1035A>G, NM_001270727.1:c.*1035A>G, NR_073068.1:n.2444A>G, XM_047441289.1:c.*1035A>G, NR_073069.1:n.2427A>G

                                      19.

                                      rs1481970470 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        22:17728229 (GRCh38)
                                        22:18210995 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:17728228:C:A,NC_000022.11:17728228:C:T
                                        Gene:
                                        BCL2L13 (Varview)
                                        Functional Consequence:
                                        3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.00007/2 (TOMMO)
                                        HGVS:
                                        NC_000022.11:g.17728229C>A, NC_000022.11:g.17728229C>T, NC_000022.10:g.18210995C>A, NC_000022.10:g.18210995C>T, NM_015367.4:c.*695C>A, NM_015367.4:c.*695C>T, NM_015367.3:c.*695C>A, NM_015367.3:c.*695C>T, XM_011546120.2:c.*695C>A, XM_011546120.2:c.*695C>T, XM_011546120.1:c.*695C>A, XM_011546120.1:c.*695C>T, XM_011546119.2:c.*695C>A, XM_011546119.2:c.*695C>T, XM_011546119.1:c.*695C>A, XM_011546119.1:c.*695C>T, XM_017028725.2:c.*695C>A, XM_017028725.2:c.*695C>T, XM_017028725.1:c.*695C>A, XM_017028725.1:c.*695C>T, NM_001270731.2:c.*695C>A, NM_001270731.2:c.*695C>T, NM_001270731.1:c.*695C>A, NM_001270731.1:c.*695C>T, NM_001270729.2:c.*695C>A, NM_001270729.2:c.*695C>T, NM_001270729.1:c.*695C>A, NM_001270729.1:c.*695C>T, NM_001270734.2:c.*1423C>A, NM_001270734.2:c.*1423C>T, NM_001270734.1:c.*1423C>A, NM_001270734.1:c.*1423C>T, NM_001270732.2:c.*1539C>A, NM_001270732.2:c.*1539C>T, NM_001270732.1:c.*1539C>A, NM_001270732.1:c.*1539C>T, NM_001270730.2:c.*695C>A, NM_001270730.2:c.*695C>T, NM_001270730.1:c.*695C>A, NM_001270730.1:c.*695C>T, NM_001270728.2:c.*1539C>A, NM_001270728.2:c.*1539C>T, NM_001270728.1:c.*1539C>A, NM_001270728.1:c.*1539C>T, NM_001270735.2:c.*1539C>A, NM_001270735.2:c.*1539C>T, NM_001270735.1:c.*1539C>A, NM_001270735.1:c.*1539C>T, NM_001270733.2:c.*695C>A, NM_001270733.2:c.*695C>T, NM_001270733.1:c.*695C>A, NM_001270733.1:c.*695C>T, XM_047441286.1:c.*695C>A, XM_047441286.1:c.*695C>T, XM_047441287.1:c.*695C>A, XM_047441287.1:c.*695C>T, XM_047441291.1:c.*1423C>A, XM_047441291.1:c.*1423C>T, NM_001270726.1:c.*695C>A, NM_001270726.1:c.*695C>T, XM_047441288.1:c.*695C>A, XM_047441288.1:c.*695C>T, NM_001270727.1:c.*695C>A, NM_001270727.1:c.*695C>T, NR_073068.1:n.2104C>A, NR_073068.1:n.2104C>T, XM_047441289.1:c.*695C>A, XM_047441289.1:c.*695C>T, NR_073069.1:n.2087C>A, NR_073069.1:n.2087C>T

                                        20.

                                        rs1481237610 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          22:17729128 (GRCh38)
                                          22:18211894 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:17729127:C:T
                                          Gene:
                                          BCL2L13 (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000022.11:g.17729128C>T, NC_000022.10:g.18211894C>T, NM_015367.4:c.*1594C>T, NM_015367.3:c.*1594C>T, XM_011546120.2:c.*1594C>T, XM_011546120.1:c.*1594C>T, XM_011546119.2:c.*1594C>T, XM_011546119.1:c.*1594C>T, XM_017028725.2:c.*1594C>T, XM_017028725.1:c.*1594C>T, NM_001270731.2:c.*1594C>T, NM_001270731.1:c.*1594C>T, NM_001270729.2:c.*1594C>T, NM_001270729.1:c.*1594C>T, NM_001270734.2:c.*2322C>T, NM_001270734.1:c.*2322C>T, NM_001270732.2:c.*2438C>T, NM_001270732.1:c.*2438C>T, NM_001270730.2:c.*1594C>T, NM_001270730.1:c.*1594C>T, NM_001270728.2:c.*2438C>T, NM_001270728.1:c.*2438C>T, NM_001270735.2:c.*2438C>T, NM_001270735.1:c.*2438C>T, NM_001270733.2:c.*1594C>T, NM_001270733.1:c.*1594C>T, XM_047441286.1:c.*1594C>T, XM_047441287.1:c.*1594C>T, XM_047441291.1:c.*2322C>T, NM_001270726.1:c.*1594C>T, XM_047441288.1:c.*1594C>T, NM_001270727.1:c.*1594C>T, NR_073068.1:n.3003C>T, XM_047441289.1:c.*1594C>T, NR_073069.1:n.2986C>T

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