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Items: 1 to 20 of 38086

1.

rs1491567092 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CT>- [Show Flanks]
    Chromosome:
    16:12785426 (GRCh38)
    16:12879283 (GRCh37)
    Canonical SPDI:
    NC_000016.10:12785424:TCT:T
    Gene:
    CPPED1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency
    MAF:
    -=0.000008/1 (GnomAD)
    HGVS:

    2.

    rs1491564413 has merged into rs1180336228 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      16:12696444 (GRCh38)
      16:12790301 (GRCh37)
      Canonical SPDI:
      NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12696438:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      CPPED1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTT=0./0 (ALFA)
      HGVS:
      NC_000016.10:g.12696444_12696458del, NC_000016.10:g.12696448_12696458del, NC_000016.10:g.12696450_12696458del, NC_000016.10:g.12696451_12696458del, NC_000016.10:g.12696452_12696458del, NC_000016.10:g.12696453_12696458del, NC_000016.10:g.12696454_12696458del, NC_000016.10:g.12696455_12696458del, NC_000016.10:g.12696456_12696458del, NC_000016.10:g.12696457_12696458del, NC_000016.10:g.12696458del, NC_000016.10:g.12696458dup, NC_000016.10:g.12696457_12696458dup, NC_000016.10:g.12696456_12696458dup, NC_000016.10:g.12696455_12696458dup, NC_000016.10:g.12696454_12696458dup, NC_000016.10:g.12696452_12696458dup, NC_000016.9:g.12790301_12790315del, NC_000016.9:g.12790305_12790315del, NC_000016.9:g.12790307_12790315del, NC_000016.9:g.12790308_12790315del, NC_000016.9:g.12790309_12790315del, NC_000016.9:g.12790310_12790315del, NC_000016.9:g.12790311_12790315del, NC_000016.9:g.12790312_12790315del, NC_000016.9:g.12790313_12790315del, NC_000016.9:g.12790314_12790315del, NC_000016.9:g.12790315del, NC_000016.9:g.12790315dup, NC_000016.9:g.12790314_12790315dup, NC_000016.9:g.12790313_12790315dup, NC_000016.9:g.12790312_12790315dup, NC_000016.9:g.12790311_12790315dup, NC_000016.9:g.12790309_12790315dup

      3.

      rs1491554224 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        16:12790918 (GRCh38)
        16:12884775 (GRCh37)
        Canonical SPDI:
        NC_000016.10:12790917:CA:
        Gene:
        CPPED1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00034/4 (ALFA)
        HGVS:

        4.

        rs1491540271 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          16:12785425 (GRCh38)
          16:12879283 (GRCh37)
          Canonical SPDI:
          NC_000016.10:12785425:C:CC
          Gene:
          CPPED1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          CC=0./0 (ALFA)
          C=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1491531645 has merged into rs538022826 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            16:12790928 (GRCh38)
            16:12884785 (GRCh37)
            Canonical SPDI:
            NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12790918:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CPPED1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAA=0./0 (ALFA)
            -=0.0106/53 (1000Genomes)
            HGVS:
            NC_000016.10:g.12790928_12790940del, NC_000016.10:g.12790929_12790940del, NC_000016.10:g.12790931_12790940del, NC_000016.10:g.12790932_12790940del, NC_000016.10:g.12790933_12790940del, NC_000016.10:g.12790934_12790940del, NC_000016.10:g.12790935_12790940del, NC_000016.10:g.12790936_12790940del, NC_000016.10:g.12790937_12790940del, NC_000016.10:g.12790938_12790940del, NC_000016.10:g.12790939_12790940del, NC_000016.10:g.12790940del, NC_000016.10:g.12790940dup, NC_000016.10:g.12790939_12790940dup, NC_000016.10:g.12790938_12790940dup, NC_000016.10:g.12790937_12790940dup, NC_000016.10:g.12790936_12790940dup, NC_000016.10:g.12790935_12790940dup, NC_000016.10:g.12790928_12790940dup, NC_000016.10:g.12790940_12790941insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.12884785_12884797del, NC_000016.9:g.12884786_12884797del, NC_000016.9:g.12884788_12884797del, NC_000016.9:g.12884789_12884797del, NC_000016.9:g.12884790_12884797del, NC_000016.9:g.12884791_12884797del, NC_000016.9:g.12884792_12884797del, NC_000016.9:g.12884793_12884797del, NC_000016.9:g.12884794_12884797del, NC_000016.9:g.12884795_12884797del, NC_000016.9:g.12884796_12884797del, NC_000016.9:g.12884797del, NC_000016.9:g.12884797dup, NC_000016.9:g.12884796_12884797dup, NC_000016.9:g.12884795_12884797dup, NC_000016.9:g.12884794_12884797dup, NC_000016.9:g.12884793_12884797dup, NC_000016.9:g.12884792_12884797dup, NC_000016.9:g.12884785_12884797dup, NC_000016.9:g.12884797_12884798insAAAAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1491531344 has merged into rs71142520 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              GG>-,GGGG [Show Flanks]
              Chromosome:
              16:12766277 (GRCh38)
              16:12860134 (GRCh37)
              Canonical SPDI:
              NC_000016.10:12766275:GGG:G,NC_000016.10:12766275:GGG:GGGGG
              Gene:
              CPPED1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.003962/47 (ALFA)
              -=0.006441/108 (TOMMO)
              -=0.008734/16 (Korea1K)
              -=0.051667/31 (NorthernSweden)
              -=0.061335/7832 (GnomAD)
              HGVS:

              7.

              rs1491518162 has merged into rs3074348 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
                Chromosome:
                16:12663075 (GRCh38)
                16:12756932 (GRCh37)
                Canonical SPDI:
                NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12663061:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
                Gene:
                CPPED1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTTTTTTT=0./0 (ALFA)
                TT=0.3093/1549 (1000Genomes)
                HGVS:
                NC_000016.10:g.12663075_12663079del, NC_000016.10:g.12663076_12663079del, NC_000016.10:g.12663077_12663079del, NC_000016.10:g.12663078_12663079del, NC_000016.10:g.12663079del, NC_000016.10:g.12663079dup, NC_000016.10:g.12663078_12663079dup, NC_000016.10:g.12663077_12663079dup, NC_000016.10:g.12663076_12663079dup, NC_000016.9:g.12756932_12756936del, NC_000016.9:g.12756933_12756936del, NC_000016.9:g.12756934_12756936del, NC_000016.9:g.12756935_12756936del, NC_000016.9:g.12756936del, NC_000016.9:g.12756936dup, NC_000016.9:g.12756935_12756936dup, NC_000016.9:g.12756934_12756936dup, NC_000016.9:g.12756933_12756936dup, NM_018340.3:c.*1820_*1824del, NM_018340.3:c.*1821_*1824del, NM_018340.3:c.*1822_*1824del, NM_018340.3:c.*1823_*1824del, NM_018340.3:c.*1824del, NM_018340.3:c.*1824dup, NM_018340.3:c.*1823_*1824dup, NM_018340.3:c.*1822_*1824dup, NM_018340.3:c.*1821_*1824dup, NM_018340.2:c.*1820_*1824del, NM_018340.2:c.*1821_*1824del, NM_018340.2:c.*1822_*1824del, NM_018340.2:c.*1823_*1824del, NM_018340.2:c.*1824del, NM_018340.2:c.*1824dup, NM_018340.2:c.*1823_*1824dup, NM_018340.2:c.*1822_*1824dup, NM_018340.2:c.*1821_*1824dup, NM_001099455.2:c.*1820_*1824del, NM_001099455.2:c.*1821_*1824del, NM_001099455.2:c.*1822_*1824del, NM_001099455.2:c.*1823_*1824del, NM_001099455.2:c.*1824del, NM_001099455.2:c.*1824dup, NM_001099455.2:c.*1823_*1824dup, NM_001099455.2:c.*1822_*1824dup, NM_001099455.2:c.*1821_*1824dup, NM_001099455.1:c.*1820_*1824del, NM_001099455.1:c.*1821_*1824del, NM_001099455.1:c.*1822_*1824del, NM_001099455.1:c.*1823_*1824del, NM_001099455.1:c.*1824del, NM_001099455.1:c.*1824dup, NM_001099455.1:c.*1823_*1824dup, NM_001099455.1:c.*1822_*1824dup, NM_001099455.1:c.*1821_*1824dup

                8.

                rs1491517916 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->GTCT [Show Flanks]
                  Chromosome:
                  16:12799279 (GRCh38)
                  16:12893137 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:12799279:TCTGTCT:TCTGTCTGTCT
                  Gene:
                  CPPED1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TCTGTCTGTCT=0.000142/2 (ALFA)
                  TCTG=0.000007/1 (GnomAD)
                  TCTG=0.000011/3 (TOPMED)
                  HGVS:

                  9.

                  rs1491517299 has merged into rs61373635 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    16:12759171 (GRCh38)
                    16:12853028 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:12759163:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    CPPED1 (Varview), LOC105371090 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAA=0./0 (ALFA)
                    -=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000016.10:g.12759171_12759186del, NC_000016.10:g.12759173_12759186del, NC_000016.10:g.12759174_12759186del, NC_000016.10:g.12759176_12759186del, NC_000016.10:g.12759177_12759186del, NC_000016.10:g.12759181_12759186del, NC_000016.10:g.12759182_12759186del, NC_000016.10:g.12759183_12759186del, NC_000016.10:g.12759184_12759186del, NC_000016.10:g.12759185_12759186del, NC_000016.10:g.12759186del, NC_000016.10:g.12759186dup, NC_000016.10:g.12759185_12759186dup, NC_000016.10:g.12759184_12759186dup, NC_000016.10:g.12759183_12759186dup, NC_000016.10:g.12759182_12759186dup, NC_000016.10:g.12759181_12759186dup, NC_000016.10:g.12759180_12759186dup, NC_000016.10:g.12759179_12759186dup, NC_000016.10:g.12759176_12759186dup, NC_000016.10:g.12759175_12759186dup, NC_000016.10:g.12759174_12759186dup, NC_000016.10:g.12759173_12759186dup, NC_000016.10:g.12759172_12759186dup, NC_000016.10:g.12759171_12759186dup, NC_000016.10:g.12759169_12759186dup, NC_000016.9:g.12853028_12853043del, NC_000016.9:g.12853030_12853043del, NC_000016.9:g.12853031_12853043del, NC_000016.9:g.12853033_12853043del, NC_000016.9:g.12853034_12853043del, NC_000016.9:g.12853038_12853043del, NC_000016.9:g.12853039_12853043del, NC_000016.9:g.12853040_12853043del, NC_000016.9:g.12853041_12853043del, NC_000016.9:g.12853042_12853043del, NC_000016.9:g.12853043del, NC_000016.9:g.12853043dup, NC_000016.9:g.12853042_12853043dup, NC_000016.9:g.12853041_12853043dup, NC_000016.9:g.12853040_12853043dup, NC_000016.9:g.12853039_12853043dup, NC_000016.9:g.12853038_12853043dup, NC_000016.9:g.12853037_12853043dup, NC_000016.9:g.12853036_12853043dup, NC_000016.9:g.12853033_12853043dup, NC_000016.9:g.12853032_12853043dup, NC_000016.9:g.12853031_12853043dup, NC_000016.9:g.12853030_12853043dup, NC_000016.9:g.12853029_12853043dup, NC_000016.9:g.12853028_12853043dup, NC_000016.9:g.12853026_12853043dup, XR_007064993.1:n.6271_6286del, XR_007064993.1:n.6273_6286del, XR_007064993.1:n.6274_6286del, XR_007064993.1:n.6276_6286del, XR_007064993.1:n.6277_6286del, XR_007064993.1:n.6281_6286del, XR_007064993.1:n.6282_6286del, XR_007064993.1:n.6283_6286del, XR_007064993.1:n.6284_6286del, XR_007064993.1:n.6285_6286del, XR_007064993.1:n.6286del, XR_007064993.1:n.6286dup, XR_007064993.1:n.6285_6286dup, XR_007064993.1:n.6284_6286dup, XR_007064993.1:n.6283_6286dup, XR_007064993.1:n.6282_6286dup, XR_007064993.1:n.6281_6286dup, XR_007064993.1:n.6280_6286dup, XR_007064993.1:n.6279_6286dup, XR_007064993.1:n.6276_6286dup, XR_007064993.1:n.6275_6286dup, XR_007064993.1:n.6274_6286dup, XR_007064993.1:n.6273_6286dup, XR_007064993.1:n.6272_6286dup, XR_007064993.1:n.6271_6286dup, XR_007064993.1:n.6269_6286dup

                    10.

                    rs1491512757 has merged into rs869107040 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      16:12689230 (GRCh38)
                      16:12783087 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12689217:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      CPPED1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTTTTTTT=0./0 (ALFA)
                      -=0.000015/4 (TOPMED)
                      HGVS:
                      NC_000016.10:g.12689230_12689241del, NC_000016.10:g.12689232_12689241del, NC_000016.10:g.12689233_12689241del, NC_000016.10:g.12689234_12689241del, NC_000016.10:g.12689235_12689241del, NC_000016.10:g.12689236_12689241del, NC_000016.10:g.12689237_12689241del, NC_000016.10:g.12689238_12689241del, NC_000016.10:g.12689239_12689241del, NC_000016.10:g.12689240_12689241del, NC_000016.10:g.12689241del, NC_000016.10:g.12689241dup, NC_000016.10:g.12689240_12689241dup, NC_000016.10:g.12689239_12689241dup, NC_000016.10:g.12689238_12689241dup, NC_000016.10:g.12689237_12689241dup, NC_000016.10:g.12689236_12689241dup, NC_000016.10:g.12689235_12689241dup, NC_000016.10:g.12689234_12689241dup, NC_000016.10:g.12689233_12689241dup, NC_000016.10:g.12689232_12689241dup, NC_000016.10:g.12689231_12689241dup, NC_000016.10:g.12689230_12689241dup, NC_000016.10:g.12689229_12689241dup, NC_000016.10:g.12689228_12689241dup, NC_000016.9:g.12783087_12783098del, NC_000016.9:g.12783089_12783098del, NC_000016.9:g.12783090_12783098del, NC_000016.9:g.12783091_12783098del, NC_000016.9:g.12783092_12783098del, NC_000016.9:g.12783093_12783098del, NC_000016.9:g.12783094_12783098del, NC_000016.9:g.12783095_12783098del, NC_000016.9:g.12783096_12783098del, NC_000016.9:g.12783097_12783098del, NC_000016.9:g.12783098del, NC_000016.9:g.12783098dup, NC_000016.9:g.12783097_12783098dup, NC_000016.9:g.12783096_12783098dup, NC_000016.9:g.12783095_12783098dup, NC_000016.9:g.12783094_12783098dup, NC_000016.9:g.12783093_12783098dup, NC_000016.9:g.12783092_12783098dup, NC_000016.9:g.12783091_12783098dup, NC_000016.9:g.12783090_12783098dup, NC_000016.9:g.12783089_12783098dup, NC_000016.9:g.12783088_12783098dup, NC_000016.9:g.12783087_12783098dup, NC_000016.9:g.12783086_12783098dup, NC_000016.9:g.12783085_12783098dup

                      11.

                      rs1491488290 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CA>- [Show Flanks]
                        Chromosome:
                        16:12703681 (GRCh38)
                        16:12797538 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:12703680:CA:
                        Gene:
                        CPPED1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        -=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491464677 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          16:12783977 (GRCh38)
                          16:12877834 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:12783975:AGA:A
                          Gene:
                          CPPED1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by cluster
                          HGVS:

                          13.

                          rs1491462050 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CT [Show Flanks]
                            Chromosome:
                            16:12733275 (GRCh38)
                            16:12827133 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:12733275:T:TCT
                            Gene:
                            CPPED1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TCT=0./0 (ALFA)
                            TC=0.00011/3 (GnomAD)
                            HGVS:

                            14.

                            rs1491435204 has merged into rs35865113 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              16:12726348 (GRCh38)
                              16:12820205 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12726340:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              CPPED1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTT=0./0 (ALFA)
                              TT=0.364/1823 (1000Genomes)
                              HGVS:
                              NC_000016.10:g.12726348_12726360del, NC_000016.10:g.12726350_12726360del, NC_000016.10:g.12726354_12726360del, NC_000016.10:g.12726355_12726360del, NC_000016.10:g.12726356_12726360del, NC_000016.10:g.12726357_12726360del, NC_000016.10:g.12726358_12726360del, NC_000016.10:g.12726359_12726360del, NC_000016.10:g.12726360del, NC_000016.10:g.12726360dup, NC_000016.10:g.12726359_12726360dup, NC_000016.10:g.12726358_12726360dup, NC_000016.10:g.12726353_12726360dup, NC_000016.9:g.12820205_12820217del, NC_000016.9:g.12820207_12820217del, NC_000016.9:g.12820211_12820217del, NC_000016.9:g.12820212_12820217del, NC_000016.9:g.12820213_12820217del, NC_000016.9:g.12820214_12820217del, NC_000016.9:g.12820215_12820217del, NC_000016.9:g.12820216_12820217del, NC_000016.9:g.12820217del, NC_000016.9:g.12820217dup, NC_000016.9:g.12820216_12820217dup, NC_000016.9:g.12820215_12820217dup, NC_000016.9:g.12820210_12820217dup

                              15.

                              rs1491394858 has merged into rs61163755 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                                Chromosome:
                                16:12660511 (GRCh38)
                                16:12754368 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:12660497:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                                Gene:
                                CPPED1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TGTGTGTGTGTGTGT=0./0 (ALFA)
                                HGVS:
                                NC_000016.10:g.12660499GT[6], NC_000016.10:g.12660499GT[7], NC_000016.10:g.12660499GT[8], NC_000016.10:g.12660499GT[9], NC_000016.10:g.12660499GT[10], NC_000016.10:g.12660499GT[11], NC_000016.10:g.12660499GT[12], NC_000016.10:g.12660499GT[13], NC_000016.10:g.12660499GT[14], NC_000016.10:g.12660499GT[15], NC_000016.10:g.12660499GT[16], NC_000016.10:g.12660499GT[17], NC_000016.10:g.12660499GT[19], NC_000016.10:g.12660499GT[20], NC_000016.10:g.12660499GT[21], NC_000016.10:g.12660499GT[22], NC_000016.10:g.12660499GT[23], NC_000016.10:g.12660499GT[24], NC_000016.10:g.12660499GT[25], NC_000016.9:g.12754356GT[6], NC_000016.9:g.12754356GT[7], NC_000016.9:g.12754356GT[8], NC_000016.9:g.12754356GT[9], NC_000016.9:g.12754356GT[10], NC_000016.9:g.12754356GT[11], NC_000016.9:g.12754356GT[12], NC_000016.9:g.12754356GT[13], NC_000016.9:g.12754356GT[14], NC_000016.9:g.12754356GT[15], NC_000016.9:g.12754356GT[16], NC_000016.9:g.12754356GT[17], NC_000016.9:g.12754356GT[19], NC_000016.9:g.12754356GT[20], NC_000016.9:g.12754356GT[21], NC_000016.9:g.12754356GT[22], NC_000016.9:g.12754356GT[23], NC_000016.9:g.12754356GT[24], NC_000016.9:g.12754356GT[25], NM_018340.3:c.*4353CA[6], NM_018340.3:c.*4353CA[7], NM_018340.3:c.*4353CA[8], NM_018340.3:c.*4353CA[9], NM_018340.3:c.*4353CA[10], NM_018340.3:c.*4353CA[11], NM_018340.3:c.*4353CA[12], NM_018340.3:c.*4353CA[13], NM_018340.3:c.*4353CA[14], NM_018340.3:c.*4353CA[15], NM_018340.3:c.*4353CA[16], NM_018340.3:c.*4353CA[17], NM_018340.3:c.*4353CA[19], NM_018340.3:c.*4353CA[20], NM_018340.3:c.*4353CA[21], NM_018340.3:c.*4353CA[22], NM_018340.3:c.*4353CA[23], NM_018340.3:c.*4353CA[24], NM_018340.3:c.*4353CA[25], NM_018340.2:c.*4353CA[6], NM_018340.2:c.*4353CA[7], NM_018340.2:c.*4353CA[8], NM_018340.2:c.*4353CA[9], NM_018340.2:c.*4353CA[10], NM_018340.2:c.*4353CA[11], NM_018340.2:c.*4353CA[12], NM_018340.2:c.*4353CA[13], NM_018340.2:c.*4353CA[14], NM_018340.2:c.*4353CA[15], NM_018340.2:c.*4353CA[16], NM_018340.2:c.*4353CA[17], NM_018340.2:c.*4353CA[19], NM_018340.2:c.*4353CA[20], NM_018340.2:c.*4353CA[21], NM_018340.2:c.*4353CA[22], NM_018340.2:c.*4353CA[23], NM_018340.2:c.*4353CA[24], NM_018340.2:c.*4353CA[25], NM_001099455.2:c.*4353CA[6], NM_001099455.2:c.*4353CA[7], NM_001099455.2:c.*4353CA[8], NM_001099455.2:c.*4353CA[9], NM_001099455.2:c.*4353CA[10], NM_001099455.2:c.*4353CA[11], NM_001099455.2:c.*4353CA[12], NM_001099455.2:c.*4353CA[13], NM_001099455.2:c.*4353CA[14], NM_001099455.2:c.*4353CA[15], NM_001099455.2:c.*4353CA[16], NM_001099455.2:c.*4353CA[17], NM_001099455.2:c.*4353CA[19], NM_001099455.2:c.*4353CA[20], NM_001099455.2:c.*4353CA[21], NM_001099455.2:c.*4353CA[22], NM_001099455.2:c.*4353CA[23], NM_001099455.2:c.*4353CA[24], NM_001099455.2:c.*4353CA[25], NM_001099455.1:c.*4353CA[6], NM_001099455.1:c.*4353CA[7], NM_001099455.1:c.*4353CA[8], NM_001099455.1:c.*4353CA[9], NM_001099455.1:c.*4353CA[10], NM_001099455.1:c.*4353CA[11], NM_001099455.1:c.*4353CA[12], NM_001099455.1:c.*4353CA[13], NM_001099455.1:c.*4353CA[14], NM_001099455.1:c.*4353CA[15], NM_001099455.1:c.*4353CA[16], NM_001099455.1:c.*4353CA[17], NM_001099455.1:c.*4353CA[19], NM_001099455.1:c.*4353CA[20], NM_001099455.1:c.*4353CA[21], NM_001099455.1:c.*4353CA[22], NM_001099455.1:c.*4353CA[23], NM_001099455.1:c.*4353CA[24], NM_001099455.1:c.*4353CA[25]

                                16.

                                rs1491382553 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  GA>- [Show Flanks]
                                  Chromosome:
                                  16:12784555 (GRCh38)
                                  16:12878412 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:12784554:GA:
                                  Gene:
                                  CPPED1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  -=0.00001/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1491377883 has merged into rs11463007 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    16:12733286 (GRCh38)
                                    16:12827143 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:12733274:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    CPPED1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTTT=0./0 (ALFA)
                                    T=0.25/2 (KOREAN)
                                    T=0.3882/1944 (1000Genomes)
                                    HGVS:

                                    18.

                                    rs1491355485 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      16:12802309 (GRCh38)
                                      16:12896166 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:12802307:ACA:A
                                      Gene:
                                      CPPED1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491351220 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AA>- [Show Flanks]
                                        Chromosome:
                                        16:12744298 (GRCh38)
                                        16:12838155 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:12744296:AAA:A
                                        Gene:
                                        CPPED1 (Varview), LOC105371090 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        -=0.00004/5 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491299749 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->C
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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