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Items: 1 to 20 of 25109

1.

rs1491560295 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->TATTTT [Show Flanks]
    Chromosome:
    8:132606677 (GRCh38)
    8:133618924 (GRCh37)
    Canonical SPDI:
    NC_000008.11:132606677:ATTTT:ATTTTTATTTT
    Gene:
    DNAAF11 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    ATTTTTATTTT=0./0 (ALFA)
    HGVS:

    2.

    rs1491540462 has merged into rs59113351 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTATAATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      8:132681013 (GRCh38)
      8:133693259 (GRCh37)
      Canonical SPDI:
      NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATAATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:132681003:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      DNAAF11 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.132681013_132681027del, NC_000008.11:g.132681015_132681027del, NC_000008.11:g.132681016_132681027del, NC_000008.11:g.132681017_132681027del, NC_000008.11:g.132681018_132681027del, NC_000008.11:g.132681019_132681027del, NC_000008.11:g.132681020_132681027del, NC_000008.11:g.132681021_132681027del, NC_000008.11:g.132681022_132681027del, NC_000008.11:g.132681023_132681027del, NC_000008.11:g.132681024_132681027del, NC_000008.11:g.132681025_132681027del, NC_000008.11:g.132681026_132681027del, NC_000008.11:g.132681027del, NC_000008.11:g.132681027dup, NC_000008.11:g.132681026_132681027dup, NC_000008.11:g.132681025_132681027dup, NC_000008.11:g.132681024_132681027dup, NC_000008.11:g.132681023_132681027dup, NC_000008.11:g.132681022_132681027dup, NC_000008.11:g.132681021_132681027dup, NC_000008.11:g.132681020_132681027dup, NC_000008.11:g.132681019_132681027dup, NC_000008.11:g.132681018_132681027dup, NC_000008.11:g.132681017_132681027dup, NC_000008.11:g.132681015_132681027dup, NC_000008.11:g.132681004_132681027T[37]ATAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.11:g.132681014_132681027dup, NC_000008.11:g.132681013_132681027dup, NC_000008.11:g.132681012_132681027dup, NC_000008.11:g.132681011_132681027dup, NC_000008.11:g.132681009_132681027dup, NC_000008.11:g.132681007_132681027dup, NC_000008.11:g.132681027_132681028insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.132681027_132681028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.132681027_132681028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.133693259_133693273del, NC_000008.10:g.133693261_133693273del, NC_000008.10:g.133693262_133693273del, NC_000008.10:g.133693263_133693273del, NC_000008.10:g.133693264_133693273del, NC_000008.10:g.133693265_133693273del, NC_000008.10:g.133693266_133693273del, NC_000008.10:g.133693267_133693273del, NC_000008.10:g.133693268_133693273del, NC_000008.10:g.133693269_133693273del, NC_000008.10:g.133693270_133693273del, NC_000008.10:g.133693271_133693273del, NC_000008.10:g.133693272_133693273del, NC_000008.10:g.133693273del, NC_000008.10:g.133693273dup, NC_000008.10:g.133693272_133693273dup, NC_000008.10:g.133693271_133693273dup, NC_000008.10:g.133693270_133693273dup, NC_000008.10:g.133693269_133693273dup, NC_000008.10:g.133693268_133693273dup, NC_000008.10:g.133693267_133693273dup, NC_000008.10:g.133693266_133693273dup, NC_000008.10:g.133693265_133693273dup, NC_000008.10:g.133693264_133693273dup, NC_000008.10:g.133693263_133693273dup, NC_000008.10:g.133693261_133693273dup, NC_000008.10:g.133693250_133693273T[37]ATAATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000008.10:g.133693260_133693273dup, NC_000008.10:g.133693259_133693273dup, NC_000008.10:g.133693258_133693273dup, NC_000008.10:g.133693257_133693273dup, NC_000008.10:g.133693255_133693273dup, NC_000008.10:g.133693253_133693273dup, NC_000008.10:g.133693273_133693274insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.133693273_133693274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.133693273_133693274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.26895_26909del, NG_033068.2:g.26897_26909del, NG_033068.2:g.26898_26909del, NG_033068.2:g.26899_26909del, NG_033068.2:g.26900_26909del, NG_033068.2:g.26901_26909del, NG_033068.2:g.26902_26909del, NG_033068.2:g.26903_26909del, NG_033068.2:g.26904_26909del, NG_033068.2:g.26905_26909del, NG_033068.2:g.26906_26909del, NG_033068.2:g.26907_26909del, NG_033068.2:g.26908_26909del, NG_033068.2:g.26909del, NG_033068.2:g.26909dup, NG_033068.2:g.26908_26909dup, NG_033068.2:g.26907_26909dup, NG_033068.2:g.26906_26909dup, NG_033068.2:g.26905_26909dup, NG_033068.2:g.26904_26909dup, NG_033068.2:g.26903_26909dup, NG_033068.2:g.26902_26909dup, NG_033068.2:g.26901_26909dup, NG_033068.2:g.26900_26909dup, NG_033068.2:g.26899_26909dup, NG_033068.2:g.26897_26909dup, NG_033068.2:g.26886_26909A[25]TTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033068.2:g.26896_26909dup, NG_033068.2:g.26895_26909dup, NG_033068.2:g.26894_26909dup, NG_033068.2:g.26893_26909dup, NG_033068.2:g.26891_26909dup, NG_033068.2:g.26889_26909dup, NG_033068.2:g.26909_26910insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033068.2:g.26909_26910insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033068.2:g.26909_26910insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

      3.

      rs1491520731 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        8:132669940 (GRCh38)
        8:133682186 (GRCh37)
        Canonical SPDI:
        NC_000008.11:132669939:CA:
        Gene:
        DNAAF11 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491439032 has merged into rs59380140 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          8:132581670 (GRCh38)
          8:133593917 (GRCh37)
          Canonical SPDI:
          NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132581661:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          DNAAF11 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000008.11:g.132581670_132581683del, NC_000008.11:g.132581671_132581683del, NC_000008.11:g.132581672_132581683del, NC_000008.11:g.132581673_132581683del, NC_000008.11:g.132581674_132581683del, NC_000008.11:g.132581675_132581683del, NC_000008.11:g.132581676_132581683del, NC_000008.11:g.132581677_132581683del, NC_000008.11:g.132581678_132581683del, NC_000008.11:g.132581679_132581683del, NC_000008.11:g.132581680_132581683del, NC_000008.11:g.132581681_132581683del, NC_000008.11:g.132581682_132581683del, NC_000008.11:g.132581683del, NC_000008.11:g.132581683dup, NC_000008.11:g.132581682_132581683dup, NC_000008.11:g.132581681_132581683dup, NC_000008.11:g.132581680_132581683dup, NC_000008.11:g.132581679_132581683dup, NC_000008.11:g.132581678_132581683dup, NC_000008.11:g.132581677_132581683dup, NC_000008.11:g.132581676_132581683dup, NC_000008.11:g.132581675_132581683dup, NC_000008.11:g.132581674_132581683dup, NC_000008.11:g.132581673_132581683dup, NC_000008.11:g.132581672_132581683dup, NC_000008.11:g.132581671_132581683dup, NC_000008.11:g.132581670_132581683dup, NC_000008.11:g.132581669_132581683dup, NC_000008.11:g.132581683_132581684insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133593917_133593930del, NC_000008.10:g.133593918_133593930del, NC_000008.10:g.133593919_133593930del, NC_000008.10:g.133593920_133593930del, NC_000008.10:g.133593921_133593930del, NC_000008.10:g.133593922_133593930del, NC_000008.10:g.133593923_133593930del, NC_000008.10:g.133593924_133593930del, NC_000008.10:g.133593925_133593930del, NC_000008.10:g.133593926_133593930del, NC_000008.10:g.133593927_133593930del, NC_000008.10:g.133593928_133593930del, NC_000008.10:g.133593929_133593930del, NC_000008.10:g.133593930del, NC_000008.10:g.133593930dup, NC_000008.10:g.133593929_133593930dup, NC_000008.10:g.133593928_133593930dup, NC_000008.10:g.133593927_133593930dup, NC_000008.10:g.133593926_133593930dup, NC_000008.10:g.133593925_133593930dup, NC_000008.10:g.133593924_133593930dup, NC_000008.10:g.133593923_133593930dup, NC_000008.10:g.133593922_133593930dup, NC_000008.10:g.133593921_133593930dup, NC_000008.10:g.133593920_133593930dup, NC_000008.10:g.133593919_133593930dup, NC_000008.10:g.133593918_133593930dup, NC_000008.10:g.133593917_133593930dup, NC_000008.10:g.133593916_133593930dup, NC_000008.10:g.133593930_133593931insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033068.2:g.126238_126251del, NG_033068.2:g.126239_126251del, NG_033068.2:g.126240_126251del, NG_033068.2:g.126241_126251del, NG_033068.2:g.126242_126251del, NG_033068.2:g.126243_126251del, NG_033068.2:g.126244_126251del, NG_033068.2:g.126245_126251del, NG_033068.2:g.126246_126251del, NG_033068.2:g.126247_126251del, NG_033068.2:g.126248_126251del, NG_033068.2:g.126249_126251del, NG_033068.2:g.126250_126251del, NG_033068.2:g.126251del, NG_033068.2:g.126251dup, NG_033068.2:g.126250_126251dup, NG_033068.2:g.126249_126251dup, NG_033068.2:g.126248_126251dup, NG_033068.2:g.126247_126251dup, NG_033068.2:g.126246_126251dup, NG_033068.2:g.126245_126251dup, NG_033068.2:g.126244_126251dup, NG_033068.2:g.126243_126251dup, NG_033068.2:g.126242_126251dup, NG_033068.2:g.126241_126251dup, NG_033068.2:g.126240_126251dup, NG_033068.2:g.126239_126251dup, NG_033068.2:g.126238_126251dup, NG_033068.2:g.126237_126251dup, NG_033068.2:g.126251_126252insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.98942_98955del, NG_033068.1:g.98943_98955del, NG_033068.1:g.98944_98955del, NG_033068.1:g.98945_98955del, NG_033068.1:g.98946_98955del, NG_033068.1:g.98947_98955del, NG_033068.1:g.98948_98955del, NG_033068.1:g.98949_98955del, NG_033068.1:g.98950_98955del, NG_033068.1:g.98951_98955del, NG_033068.1:g.98952_98955del, NG_033068.1:g.98953_98955del, NG_033068.1:g.98954_98955del, NG_033068.1:g.98955del, NG_033068.1:g.98955dup, NG_033068.1:g.98954_98955dup, NG_033068.1:g.98953_98955dup, NG_033068.1:g.98952_98955dup, NG_033068.1:g.98951_98955dup, NG_033068.1:g.98950_98955dup, NG_033068.1:g.98949_98955dup, NG_033068.1:g.98948_98955dup, NG_033068.1:g.98947_98955dup, NG_033068.1:g.98946_98955dup, NG_033068.1:g.98945_98955dup, NG_033068.1:g.98944_98955dup, NG_033068.1:g.98943_98955dup, NG_033068.1:g.98942_98955dup, NG_033068.1:g.98941_98955dup, NG_033068.1:g.98955_98956insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491435924 has merged into rs35402875 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            8:132669951 (GRCh38)
            8:133682197 (GRCh37)
            Canonical SPDI:
            NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            DNAAF11 (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAA=0./0 (ALFA)
            -=0.3534/1770 (1000Genomes)
            HGVS:
            NC_000008.11:g.132669951_132669965del, NC_000008.11:g.132669952_132669965del, NC_000008.11:g.132669953_132669965del, NC_000008.11:g.132669954_132669965del, NC_000008.11:g.132669955_132669965del, NC_000008.11:g.132669956_132669965del, NC_000008.11:g.132669957_132669965del, NC_000008.11:g.132669958_132669965del, NC_000008.11:g.132669959_132669965del, NC_000008.11:g.132669960_132669965del, NC_000008.11:g.132669962_132669965del, NC_000008.11:g.132669963_132669965del, NC_000008.11:g.132669964_132669965del, NC_000008.11:g.132669965del, NC_000008.11:g.132669965dup, NC_000008.11:g.132669964_132669965dup, NC_000008.11:g.132669963_132669965dup, NC_000008.11:g.132669962_132669965dup, NC_000008.11:g.132669961_132669965dup, NC_000008.11:g.132669960_132669965dup, NC_000008.11:g.132669959_132669965dup, NC_000008.11:g.132669958_132669965dup, NC_000008.11:g.132669957_132669965dup, NC_000008.11:g.132669956_132669965dup, NC_000008.11:g.132669955_132669965dup, NC_000008.11:g.132669954_132669965dup, NC_000008.11:g.132669953_132669965dup, NC_000008.11:g.132669951_132669965dup, NC_000008.11:g.132669950_132669965dup, NC_000008.11:g.132669949_132669965dup, NC_000008.11:g.132669948_132669965dup, NC_000008.11:g.132669947_132669965dup, NC_000008.11:g.132669946_132669965dup, NC_000008.11:g.132669945_132669965dup, NC_000008.11:g.132669944_132669965dup, NC_000008.11:g.132669942_132669965dup, NC_000008.11:g.132669941_132669965dup, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669941_132669965A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.133682197_133682211del, NC_000008.10:g.133682198_133682211del, NC_000008.10:g.133682199_133682211del, NC_000008.10:g.133682200_133682211del, NC_000008.10:g.133682201_133682211del, NC_000008.10:g.133682202_133682211del, NC_000008.10:g.133682203_133682211del, NC_000008.10:g.133682204_133682211del, NC_000008.10:g.133682205_133682211del, NC_000008.10:g.133682206_133682211del, NC_000008.10:g.133682208_133682211del, NC_000008.10:g.133682209_133682211del, NC_000008.10:g.133682210_133682211del, NC_000008.10:g.133682211del, NC_000008.10:g.133682211dup, NC_000008.10:g.133682210_133682211dup, NC_000008.10:g.133682209_133682211dup, NC_000008.10:g.133682208_133682211dup, NC_000008.10:g.133682207_133682211dup, NC_000008.10:g.133682206_133682211dup, NC_000008.10:g.133682205_133682211dup, NC_000008.10:g.133682204_133682211dup, NC_000008.10:g.133682203_133682211dup, NC_000008.10:g.133682202_133682211dup, NC_000008.10:g.133682201_133682211dup, NC_000008.10:g.133682200_133682211dup, NC_000008.10:g.133682199_133682211dup, NC_000008.10:g.133682197_133682211dup, NC_000008.10:g.133682196_133682211dup, NC_000008.10:g.133682195_133682211dup, NC_000008.10:g.133682194_133682211dup, NC_000008.10:g.133682193_133682211dup, NC_000008.10:g.133682192_133682211dup, NC_000008.10:g.133682191_133682211dup, NC_000008.10:g.133682190_133682211dup, NC_000008.10:g.133682188_133682211dup, NC_000008.10:g.133682187_133682211dup, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682187_133682211A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033068.2:g.37958_37972del, NG_033068.2:g.37959_37972del, NG_033068.2:g.37960_37972del, NG_033068.2:g.37961_37972del, NG_033068.2:g.37962_37972del, NG_033068.2:g.37963_37972del, NG_033068.2:g.37964_37972del, NG_033068.2:g.37965_37972del, NG_033068.2:g.37966_37972del, NG_033068.2:g.37967_37972del, NG_033068.2:g.37969_37972del, NG_033068.2:g.37970_37972del, NG_033068.2:g.37971_37972del, NG_033068.2:g.37972del, NG_033068.2:g.37972dup, NG_033068.2:g.37971_37972dup, NG_033068.2:g.37970_37972dup, NG_033068.2:g.37969_37972dup, NG_033068.2:g.37968_37972dup, NG_033068.2:g.37967_37972dup, NG_033068.2:g.37966_37972dup, NG_033068.2:g.37965_37972dup, NG_033068.2:g.37964_37972dup, NG_033068.2:g.37963_37972dup, NG_033068.2:g.37962_37972dup, NG_033068.2:g.37961_37972dup, NG_033068.2:g.37960_37972dup, NG_033068.2:g.37958_37972dup, NG_033068.2:g.37957_37972dup, NG_033068.2:g.37956_37972dup, NG_033068.2:g.37955_37972dup, NG_033068.2:g.37954_37972dup, NG_033068.2:g.37953_37972dup, NG_033068.2:g.37952_37972dup, NG_033068.2:g.37951_37972dup, NG_033068.2:g.37949_37972dup, NG_033068.2:g.37948_37972dup, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37948_37972T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033068.1:g.10663_10677del, NG_033068.1:g.10664_10677del, NG_033068.1:g.10665_10677del, NG_033068.1:g.10666_10677del, NG_033068.1:g.10667_10677del, NG_033068.1:g.10668_10677del, NG_033068.1:g.10669_10677del, NG_033068.1:g.10670_10677del, NG_033068.1:g.10671_10677del, NG_033068.1:g.10672_10677del, NG_033068.1:g.10674_10677del, NG_033068.1:g.10675_10677del, NG_033068.1:g.10676_10677del, NG_033068.1:g.10677del, NG_033068.1:g.10677dup, NG_033068.1:g.10676_10677dup, NG_033068.1:g.10675_10677dup, NG_033068.1:g.10674_10677dup, NG_033068.1:g.10673_10677dup, NG_033068.1:g.10672_10677dup, NG_033068.1:g.10671_10677dup, NG_033068.1:g.10670_10677dup, NG_033068.1:g.10669_10677dup, NG_033068.1:g.10668_10677dup, NG_033068.1:g.10667_10677dup, NG_033068.1:g.10666_10677dup, NG_033068.1:g.10665_10677dup, NG_033068.1:g.10663_10677dup, NG_033068.1:g.10662_10677dup, NG_033068.1:g.10661_10677dup, NG_033068.1:g.10660_10677dup, NG_033068.1:g.10659_10677dup, NG_033068.1:g.10658_10677dup, NG_033068.1:g.10657_10677dup, NG_033068.1:g.10656_10677dup, NG_033068.1:g.10654_10677dup, NG_033068.1:g.10653_10677dup, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10653_10677T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

            6.

            rs1491368169 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->GT
              Chromosome:
              no mapping
              Canonical SPDI:

              7.

              rs1491342987 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TG>- [Show Flanks]
                Chromosome:
                8:132570560 (GRCh38)
                8:133582808 (GRCh37)
                Canonical SPDI:
                NC_000008.11:132570559:TG:
                Gene:
                DNAAF11 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                NC_000008.11:g.132570560_132570561del, NC_000008.10:g.133582808_133582809del, NG_033068.2:g.137352_137353del, NG_033068.1:g.110055_110056del, NM_012472.6:c.*1745_*1746del, NM_012472.5:c.*1745_*1746del, NR_073525.3:n.3298_3299del, NR_073525.2:n.3370_3371del, NM_001321965.2:c.*1745_*1746del, NM_001321965.1:c.*1745_*1746del, NR_135912.2:n.4213_4214del, NR_135912.1:n.4109_4110del, NM_001321964.2:c.*1745_*1746del, NM_001321964.1:c.*1745_*1746del, NR_135913.2:n.3900_3901del, NR_135913.1:n.3796_3797del, NM_001321963.2:c.*1745_*1746del, NM_001321963.1:c.*1745_*1746del, NR_135911.2:n.3654_3655del, NR_135911.1:n.3550_3551del, NR_135910.2:n.3534_3535del, NR_135910.1:n.3471_3472del, NM_001321966.2:c.*1745_*1746del, NM_001321966.1:c.*1745_*1746del, NR_135905.2:n.3287_3288del, NR_135905.1:n.3359_3360del, NR_135909.2:n.3184_3185del, NR_135909.1:n.3164_3165del, NM_001321961.2:c.*1745_*1746del, NM_001321961.1:c.*1745_*1746del, NR_135907.2:n.2974_2975del, NR_135907.1:n.3046_3047del, NM_001321962.2:c.*1745_*1746del, NM_001321962.1:c.*1745_*1746del, NR_135906.2:n.2728_2729del, NR_135906.1:n.2800_2801del, NR_135908.2:n.2668_2669del, NR_135908.1:n.2740_2741del, XM_006716538.4:c.*1745_*1746del, XM_006716538.3:c.*1745_*1746del, XM_006716538.2:c.*1745_*1746del, XM_006716538.1:c.*1745_*1746del, XM_011516950.3:c.*1745_*1746del, XM_011516950.2:c.*1745_*1746del, XM_011516950.1:c.*1745_*1746del, XM_017013296.2:c.*1745_*1746del, XM_017013296.1:c.*1745_*1746del, XM_047421660.1:c.*1745_*1746del

                8.

                rs1491296189 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  8:132570560 (GRCh38)
                  8:133582809 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:132570560:G:GG
                  Gene:
                  DNAAF11 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  GG=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000008.11:g.132570561dup, NC_000008.10:g.133582809dup, NG_033068.2:g.137352dup, NG_033068.1:g.110055dup, NM_012472.6:c.*1745dup, NM_012472.5:c.*1745dup, NR_073525.3:n.3298dup, NR_073525.2:n.3370dup, NM_001321965.2:c.*1745dup, NM_001321965.1:c.*1745dup, NR_135912.2:n.4213dup, NR_135912.1:n.4109dup, NM_001321964.2:c.*1745dup, NM_001321964.1:c.*1745dup, NR_135913.2:n.3900dup, NR_135913.1:n.3796dup, NM_001321963.2:c.*1745dup, NM_001321963.1:c.*1745dup, NR_135911.2:n.3654dup, NR_135911.1:n.3550dup, NR_135910.2:n.3534dup, NR_135910.1:n.3471dup, NM_001321966.2:c.*1745dup, NM_001321966.1:c.*1745dup, NR_135905.2:n.3287dup, NR_135905.1:n.3359dup, NR_135909.2:n.3184dup, NR_135909.1:n.3164dup, NM_001321961.2:c.*1745dup, NM_001321961.1:c.*1745dup, NR_135907.2:n.2974dup, NR_135907.1:n.3046dup, NM_001321962.2:c.*1745dup, NM_001321962.1:c.*1745dup, NR_135906.2:n.2728dup, NR_135906.1:n.2800dup, NR_135908.2:n.2668dup, NR_135908.1:n.2740dup, XM_006716538.4:c.*1745dup, XM_006716538.3:c.*1745dup, XM_006716538.2:c.*1745dup, XM_006716538.1:c.*1745dup, XM_011516950.3:c.*1745dup, XM_011516950.2:c.*1745dup, XM_011516950.1:c.*1745dup, XM_017013296.2:c.*1745dup, XM_017013296.1:c.*1745dup, XM_047421660.1:c.*1745dup

                  9.

                  rs1491283435 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    8:132581661 (GRCh38)
                    8:133593908 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:132581660:CA:
                    Gene:
                    DNAAF11 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00025/3 (ALFA)
                    HGVS:

                    10.

                    rs1491214082 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->TACA,TATACA,TATATACA,TATATATACA,TATATATATACA,TATATATATATATACA,TATATATATATATATATATACA [Show Flanks]
                      Chromosome:
                      8:132602768 (GRCh38)
                      8:133615015 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:132602768:A:ATACA,NC_000008.11:132602768:A:ATATACA,NC_000008.11:132602768:A:ATATATACA,NC_000008.11:132602768:A:ATATATATACA,NC_000008.11:132602768:A:ATATATATATACA,NC_000008.11:132602768:A:ATATATATATATATACA,NC_000008.11:132602768:A:ATATATATATATATATATATACA
                      Gene:
                      DNAAF11 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      ATATACA=0./0 (ALFA)
                      ATATATATATATATAC=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000008.11:g.132602769_132602770insTACA, NC_000008.11:g.132602769AT[2]ACA[1], NC_000008.11:g.132602769AT[3]ACA[1], NC_000008.11:g.132602769AT[4]ACA[1], NC_000008.11:g.132602769AT[5]ACA[1], NC_000008.11:g.132602769AT[7]ACA[1], NC_000008.11:g.132602769AT[10]ACA[1], NC_000008.10:g.133615015_133615016insTACA, NC_000008.10:g.133615015AT[2]ACA[1], NC_000008.10:g.133615015AT[3]ACA[1], NC_000008.10:g.133615015AT[4]ACA[1], NC_000008.10:g.133615015AT[5]ACA[1], NC_000008.10:g.133615015AT[7]ACA[1], NC_000008.10:g.133615015AT[10]ACA[1], NG_033068.2:g.105144_105145insGTAT, NG_033068.2:g.105144_105145insGTATAT, NG_033068.2:g.105144_105145insGTATATAT, NG_033068.2:g.105144_105145insGTATATATAT, NG_033068.2:g.105144_105145insGTATATATATAT, NG_033068.2:g.105144_105145insGTATATATATATATAT, NG_033068.2:g.105144_105145insGTATATATATATATATATATAT, NG_033068.1:g.77849_77850insGTAT, NG_033068.1:g.77849_77850insGTATAT, NG_033068.1:g.77849_77850insGTATATAT, NG_033068.1:g.77849_77850insGTATATATAT, NG_033068.1:g.77849_77850insGTATATATATAT, NG_033068.1:g.77849_77850insGTATATATATATATAT, NG_033068.1:g.77849_77850insGTATATATATATATATATATAT

                      11.

                      rs1491213454 has merged into rs35402875 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        8:132669951 (GRCh38)
                        8:133682197 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132669940:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                        Gene:
                        DNAAF11 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAA=0./0 (ALFA)
                        -=0.3534/1770 (1000Genomes)
                        HGVS:
                        NC_000008.11:g.132669951_132669965del, NC_000008.11:g.132669952_132669965del, NC_000008.11:g.132669953_132669965del, NC_000008.11:g.132669954_132669965del, NC_000008.11:g.132669955_132669965del, NC_000008.11:g.132669956_132669965del, NC_000008.11:g.132669957_132669965del, NC_000008.11:g.132669958_132669965del, NC_000008.11:g.132669959_132669965del, NC_000008.11:g.132669960_132669965del, NC_000008.11:g.132669962_132669965del, NC_000008.11:g.132669963_132669965del, NC_000008.11:g.132669964_132669965del, NC_000008.11:g.132669965del, NC_000008.11:g.132669965dup, NC_000008.11:g.132669964_132669965dup, NC_000008.11:g.132669963_132669965dup, NC_000008.11:g.132669962_132669965dup, NC_000008.11:g.132669961_132669965dup, NC_000008.11:g.132669960_132669965dup, NC_000008.11:g.132669959_132669965dup, NC_000008.11:g.132669958_132669965dup, NC_000008.11:g.132669957_132669965dup, NC_000008.11:g.132669956_132669965dup, NC_000008.11:g.132669955_132669965dup, NC_000008.11:g.132669954_132669965dup, NC_000008.11:g.132669953_132669965dup, NC_000008.11:g.132669951_132669965dup, NC_000008.11:g.132669950_132669965dup, NC_000008.11:g.132669949_132669965dup, NC_000008.11:g.132669948_132669965dup, NC_000008.11:g.132669947_132669965dup, NC_000008.11:g.132669946_132669965dup, NC_000008.11:g.132669945_132669965dup, NC_000008.11:g.132669944_132669965dup, NC_000008.11:g.132669942_132669965dup, NC_000008.11:g.132669941_132669965dup, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669965_132669966insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132669941_132669965A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000008.10:g.133682197_133682211del, NC_000008.10:g.133682198_133682211del, NC_000008.10:g.133682199_133682211del, NC_000008.10:g.133682200_133682211del, NC_000008.10:g.133682201_133682211del, NC_000008.10:g.133682202_133682211del, NC_000008.10:g.133682203_133682211del, NC_000008.10:g.133682204_133682211del, NC_000008.10:g.133682205_133682211del, NC_000008.10:g.133682206_133682211del, NC_000008.10:g.133682208_133682211del, NC_000008.10:g.133682209_133682211del, NC_000008.10:g.133682210_133682211del, NC_000008.10:g.133682211del, NC_000008.10:g.133682211dup, NC_000008.10:g.133682210_133682211dup, NC_000008.10:g.133682209_133682211dup, NC_000008.10:g.133682208_133682211dup, NC_000008.10:g.133682207_133682211dup, NC_000008.10:g.133682206_133682211dup, NC_000008.10:g.133682205_133682211dup, NC_000008.10:g.133682204_133682211dup, NC_000008.10:g.133682203_133682211dup, NC_000008.10:g.133682202_133682211dup, NC_000008.10:g.133682201_133682211dup, NC_000008.10:g.133682200_133682211dup, NC_000008.10:g.133682199_133682211dup, NC_000008.10:g.133682197_133682211dup, NC_000008.10:g.133682196_133682211dup, NC_000008.10:g.133682195_133682211dup, NC_000008.10:g.133682194_133682211dup, NC_000008.10:g.133682193_133682211dup, NC_000008.10:g.133682192_133682211dup, NC_000008.10:g.133682191_133682211dup, NC_000008.10:g.133682190_133682211dup, NC_000008.10:g.133682188_133682211dup, NC_000008.10:g.133682187_133682211dup, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682211_133682212insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133682187_133682211A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_033068.2:g.37958_37972del, NG_033068.2:g.37959_37972del, NG_033068.2:g.37960_37972del, NG_033068.2:g.37961_37972del, NG_033068.2:g.37962_37972del, NG_033068.2:g.37963_37972del, NG_033068.2:g.37964_37972del, NG_033068.2:g.37965_37972del, NG_033068.2:g.37966_37972del, NG_033068.2:g.37967_37972del, NG_033068.2:g.37969_37972del, NG_033068.2:g.37970_37972del, NG_033068.2:g.37971_37972del, NG_033068.2:g.37972del, NG_033068.2:g.37972dup, NG_033068.2:g.37971_37972dup, NG_033068.2:g.37970_37972dup, NG_033068.2:g.37969_37972dup, NG_033068.2:g.37968_37972dup, NG_033068.2:g.37967_37972dup, NG_033068.2:g.37966_37972dup, NG_033068.2:g.37965_37972dup, NG_033068.2:g.37964_37972dup, NG_033068.2:g.37963_37972dup, NG_033068.2:g.37962_37972dup, NG_033068.2:g.37961_37972dup, NG_033068.2:g.37960_37972dup, NG_033068.2:g.37958_37972dup, NG_033068.2:g.37957_37972dup, NG_033068.2:g.37956_37972dup, NG_033068.2:g.37955_37972dup, NG_033068.2:g.37954_37972dup, NG_033068.2:g.37953_37972dup, NG_033068.2:g.37952_37972dup, NG_033068.2:g.37951_37972dup, NG_033068.2:g.37949_37972dup, NG_033068.2:g.37948_37972dup, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37972_37973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.37948_37972T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_033068.1:g.10663_10677del, NG_033068.1:g.10664_10677del, NG_033068.1:g.10665_10677del, NG_033068.1:g.10666_10677del, NG_033068.1:g.10667_10677del, NG_033068.1:g.10668_10677del, NG_033068.1:g.10669_10677del, NG_033068.1:g.10670_10677del, NG_033068.1:g.10671_10677del, NG_033068.1:g.10672_10677del, NG_033068.1:g.10674_10677del, NG_033068.1:g.10675_10677del, NG_033068.1:g.10676_10677del, NG_033068.1:g.10677del, NG_033068.1:g.10677dup, NG_033068.1:g.10676_10677dup, NG_033068.1:g.10675_10677dup, NG_033068.1:g.10674_10677dup, NG_033068.1:g.10673_10677dup, NG_033068.1:g.10672_10677dup, NG_033068.1:g.10671_10677dup, NG_033068.1:g.10670_10677dup, NG_033068.1:g.10669_10677dup, NG_033068.1:g.10668_10677dup, NG_033068.1:g.10667_10677dup, NG_033068.1:g.10666_10677dup, NG_033068.1:g.10665_10677dup, NG_033068.1:g.10663_10677dup, NG_033068.1:g.10662_10677dup, NG_033068.1:g.10661_10677dup, NG_033068.1:g.10660_10677dup, NG_033068.1:g.10659_10677dup, NG_033068.1:g.10658_10677dup, NG_033068.1:g.10657_10677dup, NG_033068.1:g.10656_10677dup, NG_033068.1:g.10654_10677dup, NG_033068.1:g.10653_10677dup, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10677_10678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.10653_10677T[31]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

                        12.

                        rs1491207683 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          GA>- [Show Flanks]
                          Chromosome:
                          8:132595348 (GRCh38)
                          8:133607594 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:132595347:GA:
                          Gene:
                          DNAAF11 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          -=0.03161/375 (ALFA)
                          -=0.36522/3588 (TOMMO)
                          HGVS:

                          13.

                          rs1491133452 [Homo sapiens]
                            Variant type:
                            SNV:
                            Alleles:
                            ->ATAAAAAAAAAAAAAAAAAAAAAAAA
                            Chromosome:
                            no mapping
                            Canonical SPDI:

                            14.

                            rs1491117910 has merged into rs71306394 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                              Chromosome:
                              8:132595372 (GRCh38)
                              8:133607618 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:132595348:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                              Gene:
                              DNAAF11 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                              HGVS:
                              NC_000008.11:g.132595372_132595377del, NC_000008.11:g.132595373_132595377del, NC_000008.11:g.132595374_132595377del, NC_000008.11:g.132595376_132595377del, NC_000008.11:g.132595377del, NC_000008.11:g.132595377dup, NC_000008.11:g.132595376_132595377dup, NC_000008.11:g.132595375_132595377dup, NC_000008.11:g.132595373_132595377dup, NC_000008.11:g.132595372_132595377dup, NC_000008.11:g.132595371_132595377dup, NC_000008.11:g.132595370_132595377dup, NC_000008.11:g.132595369_132595377dup, NC_000008.11:g.132595368_132595377dup, NC_000008.11:g.132595367_132595377dup, NC_000008.11:g.132595366_132595377dup, NC_000008.11:g.132595365_132595377dup, NC_000008.11:g.132595364_132595377dup, NC_000008.11:g.132595363_132595377dup, NC_000008.11:g.132595362_132595377dup, NC_000008.11:g.132595361_132595377dup, NC_000008.11:g.132595360_132595377dup, NC_000008.11:g.132595359_132595377dup, NC_000008.11:g.132595358_132595377dup, NC_000008.11:g.132595357_132595377dup, NC_000008.11:g.132595356_132595377dup, NC_000008.11:g.132595355_132595377dup, NC_000008.11:g.132595354_132595377dup, NC_000008.11:g.132595353_132595377dup, NC_000008.11:g.132595352_132595377dup, NC_000008.11:g.132595351_132595377dup, NC_000008.11:g.132595350_132595377dup, NC_000008.11:g.132595349_132595377dup, NC_000008.11:g.132595377_132595378insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.11:g.132595377_132595378insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133607618_133607623del, NC_000008.10:g.133607619_133607623del, NC_000008.10:g.133607620_133607623del, NC_000008.10:g.133607622_133607623del, NC_000008.10:g.133607623del, NC_000008.10:g.133607623dup, NC_000008.10:g.133607622_133607623dup, NC_000008.10:g.133607621_133607623dup, NC_000008.10:g.133607619_133607623dup, NC_000008.10:g.133607618_133607623dup, NC_000008.10:g.133607617_133607623dup, NC_000008.10:g.133607616_133607623dup, NC_000008.10:g.133607615_133607623dup, NC_000008.10:g.133607614_133607623dup, NC_000008.10:g.133607613_133607623dup, NC_000008.10:g.133607612_133607623dup, NC_000008.10:g.133607611_133607623dup, NC_000008.10:g.133607610_133607623dup, NC_000008.10:g.133607609_133607623dup, NC_000008.10:g.133607608_133607623dup, NC_000008.10:g.133607607_133607623dup, NC_000008.10:g.133607606_133607623dup, NC_000008.10:g.133607605_133607623dup, NC_000008.10:g.133607604_133607623dup, NC_000008.10:g.133607603_133607623dup, NC_000008.10:g.133607602_133607623dup, NC_000008.10:g.133607601_133607623dup, NC_000008.10:g.133607600_133607623dup, NC_000008.10:g.133607599_133607623dup, NC_000008.10:g.133607598_133607623dup, NC_000008.10:g.133607597_133607623dup, NC_000008.10:g.133607596_133607623dup, NC_000008.10:g.133607595_133607623dup, NC_000008.10:g.133607623_133607624insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000008.10:g.133607623_133607624insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_033068.2:g.112559_112564del, NG_033068.2:g.112560_112564del, NG_033068.2:g.112561_112564del, NG_033068.2:g.112563_112564del, NG_033068.2:g.112564del, NG_033068.2:g.112564dup, NG_033068.2:g.112563_112564dup, NG_033068.2:g.112562_112564dup, NG_033068.2:g.112560_112564dup, NG_033068.2:g.112559_112564dup, NG_033068.2:g.112558_112564dup, NG_033068.2:g.112557_112564dup, NG_033068.2:g.112556_112564dup, NG_033068.2:g.112555_112564dup, NG_033068.2:g.112554_112564dup, NG_033068.2:g.112553_112564dup, NG_033068.2:g.112552_112564dup, NG_033068.2:g.112551_112564dup, NG_033068.2:g.112550_112564dup, NG_033068.2:g.112549_112564dup, NG_033068.2:g.112548_112564dup, NG_033068.2:g.112547_112564dup, NG_033068.2:g.112546_112564dup, NG_033068.2:g.112545_112564dup, NG_033068.2:g.112544_112564dup, NG_033068.2:g.112543_112564dup, NG_033068.2:g.112542_112564dup, NG_033068.2:g.112541_112564dup, NG_033068.2:g.112540_112564dup, NG_033068.2:g.112539_112564dup, NG_033068.2:g.112538_112564dup, NG_033068.2:g.112537_112564dup, NG_033068.2:g.112536_112564dup, NG_033068.2:g.112564_112565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.2:g.112564_112565insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.85264_85269del, NG_033068.1:g.85265_85269del, NG_033068.1:g.85266_85269del, NG_033068.1:g.85268_85269del, NG_033068.1:g.85269del, NG_033068.1:g.85269dup, NG_033068.1:g.85268_85269dup, NG_033068.1:g.85267_85269dup, NG_033068.1:g.85265_85269dup, NG_033068.1:g.85264_85269dup, NG_033068.1:g.85263_85269dup, NG_033068.1:g.85262_85269dup, NG_033068.1:g.85261_85269dup, NG_033068.1:g.85260_85269dup, NG_033068.1:g.85259_85269dup, NG_033068.1:g.85258_85269dup, NG_033068.1:g.85257_85269dup, NG_033068.1:g.85256_85269dup, NG_033068.1:g.85255_85269dup, NG_033068.1:g.85254_85269dup, NG_033068.1:g.85253_85269dup, NG_033068.1:g.85252_85269dup, NG_033068.1:g.85251_85269dup, NG_033068.1:g.85250_85269dup, NG_033068.1:g.85249_85269dup, NG_033068.1:g.85248_85269dup, NG_033068.1:g.85247_85269dup, NG_033068.1:g.85246_85269dup, NG_033068.1:g.85245_85269dup, NG_033068.1:g.85244_85269dup, NG_033068.1:g.85243_85269dup, NG_033068.1:g.85242_85269dup, NG_033068.1:g.85241_85269dup, NG_033068.1:g.85269_85270insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033068.1:g.85269_85270insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                              15.

                              rs1491085425 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->ATATATATATATTT,ATTT [Show Flanks]
                                Chromosome:
                                8:132593361 (GRCh38)
                                8:133605608 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:132593361:T:TATATATATATATTT,NC_000008.11:132593361:T:TATTT
                                Gene:
                                DNAAF11 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TATTT=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491082768 has merged into rs34229467 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  8:132572694 (GRCh38)
                                  8:133584942 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:132572685:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  DNAAF11 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAA=0./0 (ALFA)
                                  -=0.000004/1 (TOPMED)
                                  A=0.038721/23 (NorthernSweden)
                                  HGVS:
                                  NC_000008.11:g.132572694_132572701del, NC_000008.11:g.132572699_132572701del, NC_000008.11:g.132572700_132572701del, NC_000008.11:g.132572701del, NC_000008.11:g.132572701dup, NC_000008.11:g.132572700_132572701dup, NC_000008.11:g.132572698_132572701dup, NC_000008.10:g.133584942_133584949del, NC_000008.10:g.133584947_133584949del, NC_000008.10:g.133584948_133584949del, NC_000008.10:g.133584949del, NC_000008.10:g.133584949dup, NC_000008.10:g.133584948_133584949dup, NC_000008.10:g.133584946_133584949dup, NG_033068.2:g.135220_135227del, NG_033068.2:g.135225_135227del, NG_033068.2:g.135226_135227del, NG_033068.2:g.135227del, NG_033068.2:g.135227dup, NG_033068.2:g.135226_135227dup, NG_033068.2:g.135224_135227dup, NG_033068.1:g.107923_107930del, NG_033068.1:g.107928_107930del, NG_033068.1:g.107929_107930del, NG_033068.1:g.107930del, NG_033068.1:g.107930dup, NG_033068.1:g.107929_107930dup, NG_033068.1:g.107927_107930dup

                                  17.

                                  rs1491038496 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->ATTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    8:132681002 (GRCh38)
                                    8:133693249 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:132681002::ATTTTTTTTT
                                    Gene:
                                    DNAAF11 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    HGVS:

                                    18.

                                    rs1490990881 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      ->T
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:

                                      19.

                                      rs1490988008 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        8:132579039 (GRCh38)
                                        8:133591286 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:132579038:G:T
                                        Gene:
                                        DNAAF11 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,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:

                                        20.

                                        rs1490987211 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          8:132651221 (GRCh38)
                                          8:133663467 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:132651220:G:A
                                          Gene:
                                          DNAAF11 (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:

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