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1.

rs1491573996 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    13:42282260 (GRCh38)
    13:42856396 (GRCh37)
    Canonical SPDI:
    NC_000013.11:42282258:TCT:T
    Gene:
    AKAP11 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by cluster
    MAF:
    -=0.0094/35 (TWINSUK)
    HGVS:
    2.

    rs1491470302 has merged into rs3038992 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
      Chromosome:
      13:42319925 (GRCh38)
      13:42894061 (GRCh37)
      Canonical SPDI:
      NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:42319906:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
      Gene:
      AKAP11 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
      HGVS:
      NC_000013.11:g.42319907GT[9], NC_000013.11:g.42319907GT[10], NC_000013.11:g.42319907GT[11], NC_000013.11:g.42319907GT[12], NC_000013.11:g.42319907GT[13], NC_000013.11:g.42319907GT[14], NC_000013.11:g.42319907GT[15], NC_000013.11:g.42319907GT[16], NC_000013.11:g.42319907GT[17], NC_000013.11:g.42319907GT[18], NC_000013.11:g.42319907GT[19], NC_000013.11:g.42319907GT[20], NC_000013.11:g.42319907GT[21], NC_000013.11:g.42319907GT[23], NC_000013.11:g.42319907GT[24], NC_000013.11:g.42319907GT[25], NC_000013.11:g.42319907GT[26], NC_000013.11:g.42319907GT[27], NC_000013.11:g.42319907GT[28], NC_000013.11:g.42319907GT[29], NC_000013.11:g.42319907GT[30], NC_000013.11:g.42319907GT[31], NC_000013.11:g.42319907GT[32], NC_000013.11:g.42319907GT[33], NC_000013.11:g.42319907GT[34], NC_000013.11:g.42319907GT[35], NC_000013.11:g.42319907GT[36], NC_000013.11:g.42319907GT[37], NC_000013.11:g.42319907GT[38], NC_000013.11:g.42319907GT[39], NC_000013.10:g.42894043GT[9], NC_000013.10:g.42894043GT[10], NC_000013.10:g.42894043GT[11], NC_000013.10:g.42894043GT[12], NC_000013.10:g.42894043GT[13], NC_000013.10:g.42894043GT[14], NC_000013.10:g.42894043GT[15], NC_000013.10:g.42894043GT[16], NC_000013.10:g.42894043GT[17], NC_000013.10:g.42894043GT[18], NC_000013.10:g.42894043GT[19], NC_000013.10:g.42894043GT[20], NC_000013.10:g.42894043GT[21], NC_000013.10:g.42894043GT[23], NC_000013.10:g.42894043GT[24], NC_000013.10:g.42894043GT[25], NC_000013.10:g.42894043GT[26], NC_000013.10:g.42894043GT[27], NC_000013.10:g.42894043GT[28], NC_000013.10:g.42894043GT[29], NC_000013.10:g.42894043GT[30], NC_000013.10:g.42894043GT[31], NC_000013.10:g.42894043GT[32], NC_000013.10:g.42894043GT[33], NC_000013.10:g.42894043GT[34], NC_000013.10:g.42894043GT[35], NC_000013.10:g.42894043GT[36], NC_000013.10:g.42894043GT[37], NC_000013.10:g.42894043GT[38], NC_000013.10:g.42894043GT[39], NM_016248.4:c.*679GT[9], NM_016248.4:c.*679GT[10], NM_016248.4:c.*679GT[11], NM_016248.4:c.*679GT[12], NM_016248.4:c.*679GT[13], NM_016248.4:c.*679GT[14], NM_016248.4:c.*679GT[15], NM_016248.4:c.*679GT[16], NM_016248.4:c.*679GT[17], NM_016248.4:c.*679GT[18], NM_016248.4:c.*679GT[19], NM_016248.4:c.*679GT[20], NM_016248.4:c.*679GT[21], NM_016248.4:c.*679GT[23], NM_016248.4:c.*679GT[24], NM_016248.4:c.*679GT[25], NM_016248.4:c.*679GT[26], NM_016248.4:c.*679GT[27], NM_016248.4:c.*679GT[28], NM_016248.4:c.*679GT[29], NM_016248.4:c.*679GT[30], NM_016248.4:c.*679GT[31], NM_016248.4:c.*679GT[32], NM_016248.4:c.*679GT[33], NM_016248.4:c.*679GT[34], NM_016248.4:c.*679GT[35], NM_016248.4:c.*679GT[36], NM_016248.4:c.*679GT[37], NM_016248.4:c.*679GT[38], NM_016248.4:c.*679GT[39], NM_016248.3:c.*679GT[9], NM_016248.3:c.*679GT[10], NM_016248.3:c.*679GT[11], NM_016248.3:c.*679GT[12], NM_016248.3:c.*679GT[13], NM_016248.3:c.*679GT[14], NM_016248.3:c.*679GT[15], NM_016248.3:c.*679GT[16], NM_016248.3:c.*679GT[17], NM_016248.3:c.*679GT[18], NM_016248.3:c.*679GT[19], NM_016248.3:c.*679GT[20], NM_016248.3:c.*679GT[21], NM_016248.3:c.*679GT[23], NM_016248.3:c.*679GT[24], NM_016248.3:c.*679GT[25], NM_016248.3:c.*679GT[26], NM_016248.3:c.*679GT[27], NM_016248.3:c.*679GT[28], NM_016248.3:c.*679GT[29], NM_016248.3:c.*679GT[30], NM_016248.3:c.*679GT[31], NM_016248.3:c.*679GT[32], NM_016248.3:c.*679GT[33], NM_016248.3:c.*679GT[34], NM_016248.3:c.*679GT[35], NM_016248.3:c.*679GT[36], NM_016248.3:c.*679GT[37], NM_016248.3:c.*679GT[38], NM_016248.3:c.*679GT[39], XM_005266248.4:c.*679GT[9], XM_005266248.4:c.*679GT[10], XM_005266248.4:c.*679GT[11], XM_005266248.4:c.*679GT[12], XM_005266248.4:c.*679GT[13], XM_005266248.4:c.*679GT[14], XM_005266248.4:c.*679GT[15], XM_005266248.4:c.*679GT[16], XM_005266248.4:c.*679GT[17], XM_005266248.4:c.*679GT[18], XM_005266248.4:c.*679GT[19], XM_005266248.4:c.*679GT[20], XM_005266248.4:c.*679GT[21], XM_005266248.4:c.*679GT[23], XM_005266248.4:c.*679GT[24], XM_005266248.4:c.*679GT[25], XM_005266248.4:c.*679GT[26], XM_005266248.4:c.*679GT[27], XM_005266248.4:c.*679GT[28], XM_005266248.4:c.*679GT[29], XM_005266248.4:c.*679GT[30], XM_005266248.4:c.*679GT[31], XM_005266248.4:c.*679GT[32], XM_005266248.4:c.*679GT[33], XM_005266248.4:c.*679GT[34], XM_005266248.4:c.*679GT[35], XM_005266248.4:c.*679GT[36], XM_005266248.4:c.*679GT[37], XM_005266248.4:c.*679GT[38], XM_005266248.4:c.*679GT[39], XM_005266248.3:c.*679GT[9], XM_005266248.3:c.*679GT[10], XM_005266248.3:c.*679GT[11], XM_005266248.3:c.*679GT[12], XM_005266248.3:c.*679GT[13], XM_005266248.3:c.*679GT[14], XM_005266248.3:c.*679GT[15], XM_005266248.3:c.*679GT[16], XM_005266248.3:c.*679GT[17], XM_005266248.3:c.*679GT[18], XM_005266248.3:c.*679GT[19], XM_005266248.3:c.*679GT[20], XM_005266248.3:c.*679GT[21], XM_005266248.3:c.*679GT[23], XM_005266248.3:c.*679GT[24], XM_005266248.3:c.*679GT[25], XM_005266248.3:c.*679GT[26], XM_005266248.3:c.*679GT[27], XM_005266248.3:c.*679GT[28], XM_005266248.3:c.*679GT[29], XM_005266248.3:c.*679GT[30], XM_005266248.3:c.*679GT[31], XM_005266248.3:c.*679GT[32], XM_005266248.3:c.*679GT[33], XM_005266248.3:c.*679GT[34], XM_005266248.3:c.*679GT[35], XM_005266248.3:c.*679GT[36], XM_005266248.3:c.*679GT[37], XM_005266248.3:c.*679GT[38], XM_005266248.3:c.*679GT[39], XM_005266248.2:c.*679GT[9], XM_005266248.2:c.*679GT[10], XM_005266248.2:c.*679GT[11], XM_005266248.2:c.*679GT[12], XM_005266248.2:c.*679GT[13], XM_005266248.2:c.*679GT[14], XM_005266248.2:c.*679GT[15], XM_005266248.2:c.*679GT[16], XM_005266248.2:c.*679GT[17], XM_005266248.2:c.*679GT[18], XM_005266248.2:c.*679GT[19], XM_005266248.2:c.*679GT[20], XM_005266248.2:c.*679GT[21], XM_005266248.2:c.*679GT[23], XM_005266248.2:c.*679GT[24], XM_005266248.2:c.*679GT[25], XM_005266248.2:c.*679GT[26], XM_005266248.2:c.*679GT[27], XM_005266248.2:c.*679GT[28], XM_005266248.2:c.*679GT[29], XM_005266248.2:c.*679GT[30], XM_005266248.2:c.*679GT[31], XM_005266248.2:c.*679GT[32], XM_005266248.2:c.*679GT[33], XM_005266248.2:c.*679GT[34], XM_005266248.2:c.*679GT[35], XM_005266248.2:c.*679GT[36], XM_005266248.2:c.*679GT[37], XM_005266248.2:c.*679GT[38], XM_005266248.2:c.*679GT[39], XM_005266248.1:c.*679GT[9], XM_005266248.1:c.*679GT[10], XM_005266248.1:c.*679GT[11], XM_005266248.1:c.*679GT[12], XM_005266248.1:c.*679GT[13], XM_005266248.1:c.*679GT[14], XM_005266248.1:c.*679GT[15], XM_005266248.1:c.*679GT[16], XM_005266248.1:c.*679GT[17], XM_005266248.1:c.*679GT[18], XM_005266248.1:c.*679GT[19], XM_005266248.1:c.*679GT[20], XM_005266248.1:c.*679GT[21], XM_005266248.1:c.*679GT[23], XM_005266248.1:c.*679GT[24], XM_005266248.1:c.*679GT[25], XM_005266248.1:c.*679GT[26], XM_005266248.1:c.*679GT[27], XM_005266248.1:c.*679GT[28], XM_005266248.1:c.*679GT[29], XM_005266248.1:c.*679GT[30], XM_005266248.1:c.*679GT[31], XM_005266248.1:c.*679GT[32], XM_005266248.1:c.*679GT[33], XM_005266248.1:c.*679GT[34], XM_005266248.1:c.*679GT[35], XM_005266248.1:c.*679GT[36], XM_005266248.1:c.*679GT[37], XM_005266248.1:c.*679GT[38], XM_005266248.1:c.*679GT[39], XM_005266249.4:c.*749GT[9], 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XM_047430080.1:c.*679GT[25], XM_047430080.1:c.*679GT[26], XM_047430080.1:c.*679GT[27], XM_047430080.1:c.*679GT[28], XM_047430080.1:c.*679GT[29], XM_047430080.1:c.*679GT[30], XM_047430080.1:c.*679GT[31], XM_047430080.1:c.*679GT[32], XM_047430080.1:c.*679GT[33], XM_047430080.1:c.*679GT[34], XM_047430080.1:c.*679GT[35], XM_047430080.1:c.*679GT[36], XM_047430080.1:c.*679GT[37], XM_047430080.1:c.*679GT[38], XM_047430080.1:c.*679GT[39]
      3.

      rs1491366436 has merged into rs144570815 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC [Show Flanks]
        Chromosome:
        13:42279275 (GRCh38)
        13:42853411 (GRCh37)
        Canonical SPDI:
        NC_000013.11:42279263:CACACACACACACACACAC:CACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000013.11:42279263:CACACACACACACACACAC:CACACACACACACACACACACACACACACAC
        Gene:
        AKAP11 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CACACACACACAC=0./0 (ALFA)
        HGVS:
        4.

        rs1491168862 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          13:42285791 (GRCh38)
          13:42859927 (GRCh37)
          Canonical SPDI:
          NC_000013.11:42285789:TCT:T
          Gene:
          AKAP11 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1491137251 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TT>- [Show Flanks]
            Chromosome:
            13:42323162 (GRCh38)
            13:42897298 (GRCh37)
            Canonical SPDI:
            NC_000013.11:42323159:TTTT:TT
            Gene:
            AKAP11 (Varview)
            Functional Consequence:
            3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            TTTT=0.00008/1 (ALFA)
            HGVS:
            NC_000013.11:g.42323162_42323163del, NC_000013.10:g.42897298_42897299del, NM_016248.4:c.*3934_*3935del, NM_016248.3:c.*3934_*3935del, XM_005266248.4:c.*3934_*3935del, XM_005266248.3:c.*3934_*3935del, XM_005266248.2:c.*3934_*3935del, XM_005266248.1:c.*3934_*3935del, XM_005266249.4:c.*4004_*4005del, XM_005266250.4:c.*4004_*4005del, XM_017020381.3:c.*3934_*3935del, XM_017020381.2:c.*3934_*3935del, XM_017020381.1:c.*3934_*3935del, XM_011534906.3:c.*3934_*3935del, XM_011534906.2:c.*3934_*3935del, XM_011534906.1:c.*3934_*3935del, XM_011534903.3:c.*3934_*3935del, XM_011534903.2:c.*3934_*3935del, XM_011534903.1:c.*3934_*3935del, XM_011534904.2:c.*3934_*3935del, XM_011534904.1:c.*3934_*3935del, XM_017020383.2:c.*3934_*3935del, XM_017020383.1:c.*3934_*3935del, XM_011534905.2:c.*3934_*3935del, XM_011534905.1:c.*3934_*3935del, XM_005266247.2:c.*3934_*3935del, XM_005266247.1:c.*3934_*3935del, XM_017020382.2:c.*3934_*3935del, XM_017020382.1:c.*3934_*3935del, XM_047430073.1:c.*3934_*3935del, XM_047430075.1:c.*3934_*3935del, XM_047430077.1:c.*3934_*3935del, XM_047430072.1:c.*3934_*3935del, XM_047430074.1:c.*3934_*3935del, XM_047430076.1:c.*3934_*3935del, XM_047430078.1:c.*3934_*3935del, XM_047430079.1:c.*3934_*3935del, XM_047430080.1:c.*3934_*3935del
            6.

            rs1491092646 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->TA [Show Flanks]
              Chromosome:
              13:42279264 (GRCh38)
              13:42853401 (GRCh37)
              Canonical SPDI:
              NC_000013.11:42279264:A:ATA
              Gene:
              AKAP11 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              ATA=0./0 (ALFA)
              AT=0.000008/2 (TOPMED)
              AT=0.000056/2 (GnomAD)
              HGVS:
              7.

              rs1491035069 has merged into rs71761653 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TCTCTC>-,TC,TCTC,TCTCTCTC,TCTCTCTCTC [Show Flanks]
                Chromosome:
                13:42279289 (GRCh38)
                13:42853425 (GRCh37)
                Canonical SPDI:
                NC_000013.11:42279281:CTCTCTCTCTCTC:CTCTCTC,NC_000013.11:42279281:CTCTCTCTCTCTC:CTCTCTCTC,NC_000013.11:42279281:CTCTCTCTCTCTC:CTCTCTCTCTC,NC_000013.11:42279281:CTCTCTCTCTCTC:CTCTCTCTCTCTCTC,NC_000013.11:42279281:CTCTCTCTCTCTC:CTCTCTCTCTCTCTCTC
                Gene:
                AKAP11 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CTCTCTCTCTC=0./0 (ALFA)
                -=0.000691/183 (TOPMED)
                CT=0.003333/2 (NorthernSweden)
                CT=0.025/1 (GENOME_DK)
                HGVS:
                8.

                rs1491002144 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  13:42309546 (GRCh38)
                  13:42883682 (GRCh37)
                  Canonical SPDI:
                  NC_000013.11:42309545:G:A
                  Gene:
                  AKAP11 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000014/2 (GnomAD)
                  A=0.000015/4 (TOPMED)
                  HGVS:
                  9.

                  rs1490925402 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    13:42308401 (GRCh38)
                    13:42882537 (GRCh37)
                    Canonical SPDI:
                    NC_000013.11:42308400:C:T
                    Gene:
                    AKAP11 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    10.

                    rs1490847017 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      13:42275046 (GRCh38)
                      13:42849182 (GRCh37)
                      Canonical SPDI:
                      NC_000013.11:42275045:C:T
                      Gene:
                      AKAP11 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (TOPMED)
                      HGVS:
                      11.

                      rs1490768358 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        13:42279287 (GRCh38)
                        13:42853423 (GRCh37)
                        Canonical SPDI:
                        NC_000013.11:42279286:T:A
                        Gene:
                        AKAP11 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.010116/120 (ALFA)
                        A=0.010267/1396 (GnomAD)
                        A=0.010462/67 (1000Genomes)
                        T=0.5/1 (SGDP_PRJ)
                        HGVS:
                        12.

                        rs1490642676 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          13:42300438 (GRCh38)
                          13:42874574 (GRCh37)
                          Canonical SPDI:
                          NC_000013.11:42300437:T:C
                          Gene:
                          AKAP11 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000013.11:g.42300438T>C, NC_000013.10:g.42874574T>C, NM_016248.4:c.1692T>C, NM_016248.3:c.1692T>C, XM_005266248.4:c.1557T>C, XM_005266248.3:c.1557T>C, XM_005266248.2:c.1557T>C, XM_005266248.1:c.1557T>C, XM_005266249.4:c.1692T>C, XM_005266249.3:c.1692T>C, XM_005266249.2:c.1692T>C, XM_005266249.1:c.1692T>C, XM_005266250.4:c.1692T>C, XM_005266250.3:c.1692T>C, XM_005266250.2:c.1692T>C, XM_005266250.1:c.1692T>C, XM_017020381.3:c.1692T>C, XM_017020381.2:c.1692T>C, XM_017020381.1:c.1692T>C, XM_011534906.3:c.1692T>C, XM_011534906.2:c.1692T>C, XM_011534906.1:c.1692T>C, XM_011534903.3:c.1692T>C, XM_011534903.2:c.1692T>C, XM_011534903.1:c.1692T>C, XM_011534904.2:c.1692T>C, XM_011534904.1:c.1692T>C, XM_017020383.2:c.1557T>C, XM_017020383.1:c.1557T>C, XM_011534905.2:c.1692T>C, XM_011534905.1:c.1692T>C, XM_005266247.2:c.1692T>C, XM_005266247.1:c.1692T>C, XM_017020382.2:c.1557T>C, XM_017020382.1:c.1557T>C, XM_047430073.1:c.1692T>C, XM_047430075.1:c.1692T>C, XM_047430077.1:c.1557T>C, XM_047430072.1:c.1692T>C, XM_047430074.1:c.1692T>C, XM_047430076.1:c.1557T>C, XM_047430078.1:c.1557T>C, XM_047430079.1:c.1557T>C, XM_047430080.1:c.1557T>C, NM_144490.1:c.1692T>C
                          13.

                          rs1490635475 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            13:42318352 (GRCh38)
                            13:42892488 (GRCh37)
                            Canonical SPDI:
                            NC_000013.11:42318351:G:A
                            Gene:
                            AKAP11 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490633696 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TATTATATT [Show Flanks]
                              Chromosome:
                              13:42315257 (GRCh38)
                              13:42889394 (GRCh37)
                              Canonical SPDI:
                              NC_000013.11:42315257::TATTATATT
                              Gene:
                              AKAP11 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TATTATATT=0./0 (ALFA)
                              TATTATATT=0.000007/1 (GnomAD)
                              HGVS:
                              15.

                              rs1490509971 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                13:42310099 (GRCh38)
                                13:42884235 (GRCh37)
                                Canonical SPDI:
                                NC_000013.11:42310098:G:A
                                Gene:
                                AKAP11 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:
                                16.

                                rs1490445332 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  13:42293031 (GRCh38)
                                  13:42867167 (GRCh37)
                                  Canonical SPDI:
                                  NC_000013.11:42293030:G:C
                                  Gene:
                                  AKAP11 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490356290 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    13:42275538 (GRCh38)
                                    13:42849674 (GRCh37)
                                    Canonical SPDI:
                                    NC_000013.11:42275537:A:G
                                    Gene:
                                    AKAP11 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000004/1 (TOPMED)
                                    G=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490324415 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      13:42284907 (GRCh38)
                                      13:42859043 (GRCh37)
                                      Canonical SPDI:
                                      NC_000013.11:42284906:A:T
                                      Gene:
                                      AKAP11 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      19.

                                      rs1490301184 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        13:42270033 (GRCh38)
                                        13:42844169 (GRCh37)
                                        Canonical SPDI:
                                        NC_000013.11:42270032:T:G
                                        Gene:
                                        AKAP11 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490212910 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          13:42291340 (GRCh38)
                                          13:42865476 (GRCh37)
                                          Canonical SPDI:
                                          NC_000013.11:42291339:C:T
                                          Gene:
                                          AKAP11 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:

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