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Items: 1 to 20 of 1000

1.

rs1491588812 has merged into rs201132389 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CTCTCT>-,CT,CTCT,CTCTCTCT [Show Flanks]
    Chromosome:
    16:23874564 (GRCh38)
    16:23885885 (GRCh37)
    Canonical SPDI:
    NC_000016.10:23874562:TCTCTCT:T,NC_000016.10:23874562:TCTCTCT:TCT,NC_000016.10:23874562:TCTCTCT:TCTCT,NC_000016.10:23874562:TCTCTCT:TCTCTCTCT
    Gene:
    PRKCB (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TCT=0./0 (ALFA)
    TC=0.000004/1 (TOPMED)
    TC=0.000062/1 (TOMMO)
    -=0.000468/3 (1000Genomes)
    -=0.145563/561 (ALSPAC)
    HGVS:
    2.

    rs1491587819 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->CTTC [Show Flanks]
      Chromosome:
      16:24020981 (GRCh38)
      16:24032303 (GRCh37)
      Canonical SPDI:
      NC_000016.10:24020981:TTC:TTCCTTC
      Gene:
      PRKCB (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      TTCCTTC=0./0 (ALFA)
      TTCC=0.00015/13 (GnomAD)
      HGVS:
      3.

      rs1491574878 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        16:23876989 (GRCh38)
        16:23888311 (GRCh37)
        Canonical SPDI:
        NC_000016.10:23876989::C
        Gene:
        PRKCB (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.000071/1 (ALFA)
        C=0.000023/6 (TOPMED)
        C=0.000389/3 (GnomAD)
        HGVS:
        4.

        rs1491569980 has merged into rs112814112 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
          Chromosome:
          16:23877840 (GRCh38)
          16:23889161 (GRCh37)
          Canonical SPDI:
          NC_000016.10:23877828:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:23877828:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:23877828:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:23877828:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:23877828:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
          Gene:
          PRKCB (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          T=0.00167/1 (NorthernSweden)
          HGVS:
          5.

          rs1491560045 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            16:24061910 (GRCh38)
            16:24073231 (GRCh37)
            Canonical SPDI:
            NC_000016.10:24061908:ATA:A
            Gene:
            PRKCB (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.001348/22 (ALFA)
            -=0.000475/52 (GnomAD)
            -=0.001578/26 (TOMMO)
            HGVS:
            6.

            rs1491556260 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTT [Show Flanks]
              Chromosome:
              16:24048495 (GRCh38)
              16:24059817 (GRCh37)
              Canonical SPDI:
              NC_000016.10:24048495:TT:TTCTT
              Gene:
              PRKCB (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              TTCTT=0./0 (ALFA)
              TTC=0.000004/1 (TOPMED)
              HGVS:
              7.

              rs1491553377 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                16:23843790 (GRCh38)
                16:23855111 (GRCh37)
                Canonical SPDI:
                NC_000016.10:23843789:CA:
                Gene:
                PRKCB (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.00034/4 (ALFA)
                HGVS:
                8.

                rs1491539557 has merged into rs1440420135 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TT>-,TTT,TTTT [Show Flanks]
                  Chromosome:
                  16:24021014 (GRCh38)
                  16:24032335 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:24021012:TTT:T,NC_000016.10:24021012:TTT:TTTT,NC_000016.10:24021012:TTT:TTTTT
                  Gene:
                  PRKCB (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTT=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1491527505 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TG>-,TGTGTGTGTGTGTG [Show Flanks]
                    Chromosome:
                    16:24002326 (GRCh38)
                    16:24013647 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:24002324:GTG:G,NC_000016.10:24002324:GTG:GTGTGTGTGTGTGTG
                    Gene:
                    PRKCB (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    GTGTGTGTGTGT=0.000009/1 (GnomAD)
                    HGVS:
                    10.

                    rs1491515063 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->TTGTT
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491513347 has merged into rs56897816 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                        Chromosome:
                        16:23900731 (GRCh38)
                        16:23912052 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23900718:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        Gene:
                        PRKCB (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TTTTTTTTTTTT=0./0 (ALFA)
                        HGVS:
                        NC_000016.10:g.23900731_23900750del, NC_000016.10:g.23900732_23900750del, NC_000016.10:g.23900733_23900750del, NC_000016.10:g.23900734_23900750del, NC_000016.10:g.23900735_23900750del, NC_000016.10:g.23900736_23900750del, NC_000016.10:g.23900737_23900750del, NC_000016.10:g.23900738_23900750del, NC_000016.10:g.23900739_23900750del, NC_000016.10:g.23900740_23900750del, NC_000016.10:g.23900741_23900750del, NC_000016.10:g.23900742_23900750del, NC_000016.10:g.23900743_23900750del, NC_000016.10:g.23900744_23900750del, NC_000016.10:g.23900745_23900750del, NC_000016.10:g.23900746_23900750del, NC_000016.10:g.23900747_23900750del, NC_000016.10:g.23900748_23900750del, NC_000016.10:g.23900749_23900750del, NC_000016.10:g.23900750del, NC_000016.10:g.23900750dup, NC_000016.10:g.23900749_23900750dup, NC_000016.10:g.23900748_23900750dup, NC_000016.10:g.23900747_23900750dup, NC_000016.10:g.23900746_23900750dup, NC_000016.10:g.23900745_23900750dup, NC_000016.10:g.23900744_23900750dup, NC_000016.10:g.23900743_23900750dup, NC_000016.10:g.23900742_23900750dup, NC_000016.10:g.23900741_23900750dup, NC_000016.10:g.23900740_23900750dup, NC_000016.10:g.23900739_23900750dup, NC_000016.10:g.23900738_23900750dup, NC_000016.10:g.23900737_23900750dup, NC_000016.10:g.23900736_23900750dup, NC_000016.10:g.23900735_23900750dup, NC_000016.10:g.23900734_23900750dup, NC_000016.10:g.23900733_23900750dup, NC_000016.10:g.23900732_23900750dup, NC_000016.10:g.23900731_23900750dup, NC_000016.10:g.23900730_23900750dup, NC_000016.10:g.23900729_23900750dup, NC_000016.10:g.23900728_23900750dup, NC_000016.10:g.23900727_23900750dup, NC_000016.10:g.23900726_23900750dup, NC_000016.10:g.23900725_23900750dup, NC_000016.10:g.23900724_23900750dup, NC_000016.10:g.23900723_23900750dup, NC_000016.10:g.23900722_23900750dup, NC_000016.10:g.23900720_23900750dup, NC_000016.10:g.23900719_23900750dup, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.23900750_23900751insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912052_23912071del, NC_000016.9:g.23912053_23912071del, NC_000016.9:g.23912054_23912071del, NC_000016.9:g.23912055_23912071del, NC_000016.9:g.23912056_23912071del, NC_000016.9:g.23912057_23912071del, NC_000016.9:g.23912058_23912071del, NC_000016.9:g.23912059_23912071del, NC_000016.9:g.23912060_23912071del, NC_000016.9:g.23912061_23912071del, NC_000016.9:g.23912062_23912071del, NC_000016.9:g.23912063_23912071del, NC_000016.9:g.23912064_23912071del, NC_000016.9:g.23912065_23912071del, NC_000016.9:g.23912066_23912071del, NC_000016.9:g.23912067_23912071del, NC_000016.9:g.23912068_23912071del, NC_000016.9:g.23912069_23912071del, NC_000016.9:g.23912070_23912071del, NC_000016.9:g.23912071del, NC_000016.9:g.23912071dup, NC_000016.9:g.23912070_23912071dup, NC_000016.9:g.23912069_23912071dup, NC_000016.9:g.23912068_23912071dup, NC_000016.9:g.23912067_23912071dup, NC_000016.9:g.23912066_23912071dup, NC_000016.9:g.23912065_23912071dup, NC_000016.9:g.23912064_23912071dup, NC_000016.9:g.23912063_23912071dup, NC_000016.9:g.23912062_23912071dup, NC_000016.9:g.23912061_23912071dup, NC_000016.9:g.23912060_23912071dup, NC_000016.9:g.23912059_23912071dup, NC_000016.9:g.23912058_23912071dup, NC_000016.9:g.23912057_23912071dup, NC_000016.9:g.23912056_23912071dup, NC_000016.9:g.23912055_23912071dup, NC_000016.9:g.23912054_23912071dup, NC_000016.9:g.23912053_23912071dup, NC_000016.9:g.23912052_23912071dup, NC_000016.9:g.23912051_23912071dup, NC_000016.9:g.23912050_23912071dup, NC_000016.9:g.23912049_23912071dup, NC_000016.9:g.23912048_23912071dup, NC_000016.9:g.23912047_23912071dup, NC_000016.9:g.23912046_23912071dup, NC_000016.9:g.23912045_23912071dup, NC_000016.9:g.23912044_23912071dup, NC_000016.9:g.23912043_23912071dup, NC_000016.9:g.23912041_23912071dup, NC_000016.9:g.23912040_23912071dup, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.23912071_23912072insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69753_69772del, NG_029003.2:g.69754_69772del, NG_029003.2:g.69755_69772del, NG_029003.2:g.69756_69772del, NG_029003.2:g.69757_69772del, NG_029003.2:g.69758_69772del, NG_029003.2:g.69759_69772del, NG_029003.2:g.69760_69772del, NG_029003.2:g.69761_69772del, NG_029003.2:g.69762_69772del, NG_029003.2:g.69763_69772del, NG_029003.2:g.69764_69772del, NG_029003.2:g.69765_69772del, NG_029003.2:g.69766_69772del, NG_029003.2:g.69767_69772del, NG_029003.2:g.69768_69772del, NG_029003.2:g.69769_69772del, NG_029003.2:g.69770_69772del, NG_029003.2:g.69771_69772del, NG_029003.2:g.69772del, NG_029003.2:g.69772dup, NG_029003.2:g.69771_69772dup, NG_029003.2:g.69770_69772dup, NG_029003.2:g.69769_69772dup, NG_029003.2:g.69768_69772dup, NG_029003.2:g.69767_69772dup, NG_029003.2:g.69766_69772dup, NG_029003.2:g.69765_69772dup, NG_029003.2:g.69764_69772dup, NG_029003.2:g.69763_69772dup, NG_029003.2:g.69762_69772dup, NG_029003.2:g.69761_69772dup, NG_029003.2:g.69760_69772dup, NG_029003.2:g.69759_69772dup, NG_029003.2:g.69758_69772dup, NG_029003.2:g.69757_69772dup, NG_029003.2:g.69756_69772dup, NG_029003.2:g.69755_69772dup, NG_029003.2:g.69754_69772dup, NG_029003.2:g.69753_69772dup, NG_029003.2:g.69752_69772dup, NG_029003.2:g.69751_69772dup, NG_029003.2:g.69750_69772dup, NG_029003.2:g.69749_69772dup, NG_029003.2:g.69748_69772dup, NG_029003.2:g.69747_69772dup, NG_029003.2:g.69746_69772dup, NG_029003.2:g.69745_69772dup, NG_029003.2:g.69744_69772dup, NG_029003.2:g.69742_69772dup, NG_029003.2:g.69741_69772dup, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029003.2:g.69772_69773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                        12.

                        rs1491512466 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TT>- [Show Flanks]
                          Chromosome:
                          16:23865265 (GRCh38)
                          16:23876586 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:23865263:TTT:T
                          Gene:
                          PRKCB (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          T=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491512020 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C,CAC [Show Flanks]
                            Chromosome:
                            16:23873190 (GRCh38)
                            16:23884512 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:23873190::C,NC_000016.10:23873190::CAC
                            Gene:
                            PRKCB (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0.00008/1 (ALFA)
                            C=0.00033/13 (GnomAD)
                            C=0.00075/12 (TOMMO)
                            C=0.00396/7 (Korea1K)
                            HGVS:
                            14.

                            rs1491501907 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AG>- [Show Flanks]
                              Chromosome:
                              16:24036205 (GRCh38)
                              16:24047526 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:24036203:GAG:G
                              Gene:
                              PRKCB (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000015/2 (GnomAD)
                              HGVS:
                              15.

                              rs1491494650 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                16:24088714 (GRCh38)
                                16:24100035 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:24088713:CA:
                                Gene:
                                PRKCB (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0.00177/21 (ALFA)
                                -=0.00096/27 (TOMMO)
                                HGVS:
                                16.

                                rs1491493516 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->T [Show Flanks]
                                  Chromosome:
                                  16:24061909 (GRCh38)
                                  16:24073231 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:24061909:T:TT
                                  Gene:
                                  PRKCB (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TT=0./0 (ALFA)
                                  T=0.009208/1042 (GnomAD)
                                  T=0.021667/13 (NorthernSweden)
                                  HGVS:
                                  17.

                                  rs1491492523 has merged into rs564543744 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    16:24162454 (GRCh38)
                                    16:24173775 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:24162442:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    PRKCB (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTT=0./0 (ALFA)
                                    -=0.000015/4 (TOPMED)
                                    TTTTTT=0.015789/9 (NorthernSweden)
                                    HGVS:
                                    NC_000016.10:g.24162454_24162466del, NC_000016.10:g.24162455_24162466del, NC_000016.10:g.24162456_24162466del, NC_000016.10:g.24162457_24162466del, NC_000016.10:g.24162458_24162466del, NC_000016.10:g.24162459_24162466del, NC_000016.10:g.24162460_24162466del, NC_000016.10:g.24162461_24162466del, NC_000016.10:g.24162462_24162466del, NC_000016.10:g.24162463_24162466del, NC_000016.10:g.24162464_24162466del, NC_000016.10:g.24162465_24162466del, NC_000016.10:g.24162466del, NC_000016.10:g.24162466dup, NC_000016.10:g.24162465_24162466dup, NC_000016.10:g.24162464_24162466dup, NC_000016.10:g.24162463_24162466dup, NC_000016.10:g.24162462_24162466dup, NC_000016.10:g.24162461_24162466dup, NC_000016.9:g.24173775_24173787del, NC_000016.9:g.24173776_24173787del, NC_000016.9:g.24173777_24173787del, NC_000016.9:g.24173778_24173787del, NC_000016.9:g.24173779_24173787del, NC_000016.9:g.24173780_24173787del, NC_000016.9:g.24173781_24173787del, NC_000016.9:g.24173782_24173787del, NC_000016.9:g.24173783_24173787del, NC_000016.9:g.24173784_24173787del, NC_000016.9:g.24173785_24173787del, NC_000016.9:g.24173786_24173787del, NC_000016.9:g.24173787del, NC_000016.9:g.24173787dup, NC_000016.9:g.24173786_24173787dup, NC_000016.9:g.24173785_24173787dup, NC_000016.9:g.24173784_24173787dup, NC_000016.9:g.24173783_24173787dup, NC_000016.9:g.24173782_24173787dup, NG_029003.2:g.331476_331488del, NG_029003.2:g.331477_331488del, NG_029003.2:g.331478_331488del, NG_029003.2:g.331479_331488del, NG_029003.2:g.331480_331488del, NG_029003.2:g.331481_331488del, NG_029003.2:g.331482_331488del, NG_029003.2:g.331483_331488del, NG_029003.2:g.331484_331488del, NG_029003.2:g.331485_331488del, NG_029003.2:g.331486_331488del, NG_029003.2:g.331487_331488del, NG_029003.2:g.331488del, NG_029003.2:g.331488dup, NG_029003.2:g.331487_331488dup, NG_029003.2:g.331486_331488dup, NG_029003.2:g.331485_331488dup, NG_029003.2:g.331484_331488dup, NG_029003.2:g.331483_331488dup
                                    18.

                                    rs1491480109 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GA [Show Flanks]
                                      Chromosome:
                                      16:23915690 (GRCh38)
                                      16:23927012 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:23915690:A:AGA
                                      Gene:
                                      PRKCB (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AGA=0./0 (ALFA)
                                      HGVS:
                                      19.

                                      rs1491464448 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        16:24202051 (GRCh38)
                                        16:24213372 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:24202049:AGA:A
                                        Gene:
                                        PRKCB (Varview), MIR1273H (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491455866 has merged into rs58458568 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                          Chromosome:
                                          16:23911842 (GRCh38)
                                          16:23923163 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:23911826:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                          Gene:
                                          PRKCB (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                          -=0.000034/9 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.23911842_23911850del, NC_000016.10:g.23911843_23911850del, NC_000016.10:g.23911846_23911850del, NC_000016.10:g.23911847_23911850del, NC_000016.10:g.23911848_23911850del, NC_000016.10:g.23911849_23911850del, NC_000016.10:g.23911850del, NC_000016.10:g.23911850dup, NC_000016.10:g.23911849_23911850dup, NC_000016.10:g.23911847_23911850dup, NC_000016.10:g.23911846_23911850dup, NC_000016.10:g.23911844_23911850dup, NC_000016.10:g.23911843_23911850dup, NC_000016.10:g.23911827_23911850dup, NC_000016.9:g.23923163_23923171del, NC_000016.9:g.23923164_23923171del, NC_000016.9:g.23923167_23923171del, NC_000016.9:g.23923168_23923171del, NC_000016.9:g.23923169_23923171del, NC_000016.9:g.23923170_23923171del, NC_000016.9:g.23923171del, NC_000016.9:g.23923171dup, NC_000016.9:g.23923170_23923171dup, NC_000016.9:g.23923168_23923171dup, NC_000016.9:g.23923167_23923171dup, NC_000016.9:g.23923165_23923171dup, NC_000016.9:g.23923164_23923171dup, NC_000016.9:g.23923148_23923171dup, NG_029003.2:g.80864_80872del, NG_029003.2:g.80865_80872del, NG_029003.2:g.80868_80872del, NG_029003.2:g.80869_80872del, NG_029003.2:g.80870_80872del, NG_029003.2:g.80871_80872del, NG_029003.2:g.80872del, NG_029003.2:g.80872dup, NG_029003.2:g.80871_80872dup, NG_029003.2:g.80869_80872dup, NG_029003.2:g.80868_80872dup, NG_029003.2:g.80866_80872dup, NG_029003.2:g.80865_80872dup, NG_029003.2:g.80849_80872dup

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