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Items: 1 to 20 of 1311

1.

rs1491518287 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->CAAAA
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491506530 has merged into rs3839716 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA [Show Flanks]
      Chromosome:
      7:2945741 (GRCh38)
      7:2985375 (GRCh37)
      Canonical SPDI:
      NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:2945727:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA
      Gene:
      CARD11 (Varview), CARD11-AS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      ACACACACACACACA=0./0 (ALFA)
      -=0.0929/358 (ALSPAC)
      AC=0.3883/233 (NorthernSweden)
      HGVS:
      NC_000007.14:g.2945729CA[6], NC_000007.14:g.2945729CA[7], NC_000007.14:g.2945729CA[8], NC_000007.14:g.2945729CA[9], NC_000007.14:g.2945729CA[10], NC_000007.14:g.2945729CA[11], NC_000007.14:g.2945729CA[12], NC_000007.14:g.2945729CA[14], NC_000007.14:g.2945729CA[15], NC_000007.14:g.2945729CA[16], NC_000007.14:g.2945729CA[17], NC_000007.13:g.2985363CA[6], NC_000007.13:g.2985363CA[7], NC_000007.13:g.2985363CA[8], NC_000007.13:g.2985363CA[9], NC_000007.13:g.2985363CA[10], NC_000007.13:g.2985363CA[11], NC_000007.13:g.2985363CA[12], NC_000007.13:g.2985363CA[14], NC_000007.13:g.2985363CA[15], NC_000007.13:g.2985363CA[16], NC_000007.13:g.2985363CA[17], NG_027759.1:g.103123GT[6], NG_027759.1:g.103123GT[7], NG_027759.1:g.103123GT[8], NG_027759.1:g.103123GT[9], NG_027759.1:g.103123GT[10], NG_027759.1:g.103123GT[11], NG_027759.1:g.103123GT[12], NG_027759.1:g.103123GT[14], NG_027759.1:g.103123GT[15], NG_027759.1:g.103123GT[16], NG_027759.1:g.103123GT[17]
      3.

      rs1491406821 has merged into rs869179009 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        7:2943756 (GRCh38)
        7:2983390 (GRCh37)
        Canonical SPDI:
        NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        CARD11 (Varview), CARD11-AS1 (Varview)
        Functional Consequence:
        2KB_upstream_variant,intron_variant,upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAA=0./0 (ALFA)
        HGVS:
        NC_000007.14:g.2943756_2943778del, NC_000007.14:g.2943761_2943778del, NC_000007.14:g.2943762_2943778del, NC_000007.14:g.2943764_2943778del, NC_000007.14:g.2943765_2943778del, NC_000007.14:g.2943766_2943778del, NC_000007.14:g.2943767_2943778del, NC_000007.14:g.2943768_2943778del, NC_000007.14:g.2943769_2943778del, NC_000007.14:g.2943770_2943778del, NC_000007.14:g.2943771_2943778del, NC_000007.14:g.2943772_2943778del, NC_000007.14:g.2943773_2943778del, NC_000007.14:g.2943774_2943778del, NC_000007.14:g.2943775_2943778del, NC_000007.14:g.2943776_2943778del, NC_000007.14:g.2943777_2943778del, NC_000007.14:g.2943778del, NC_000007.14:g.2943778dup, NC_000007.14:g.2943777_2943778dup, NC_000007.14:g.2943776_2943778dup, NC_000007.14:g.2943775_2943778dup, NC_000007.14:g.2943774_2943778dup, NC_000007.14:g.2943773_2943778dup, NC_000007.14:g.2943772_2943778dup, NC_000007.14:g.2943771_2943778dup, NC_000007.14:g.2943770_2943778dup, NC_000007.14:g.2943769_2943778dup, NC_000007.14:g.2943768_2943778dup, NC_000007.14:g.2943767_2943778dup, NC_000007.14:g.2943766_2943778dup, NC_000007.14:g.2943765_2943778dup, NC_000007.14:g.2943764_2943778dup, NC_000007.14:g.2943763_2943778dup, NC_000007.14:g.2943762_2943778dup, NC_000007.14:g.2943761_2943778dup, NC_000007.14:g.2943760_2943778dup, NC_000007.14:g.2943759_2943778dup, NC_000007.14:g.2943758_2943778dup, NC_000007.14:g.2943757_2943778dup, NC_000007.14:g.2943756_2943778dup, NC_000007.14:g.2943755_2943778dup, NC_000007.14:g.2943754_2943778dup, NC_000007.14:g.2943753_2943778dup, NC_000007.14:g.2943752_2943778dup, NC_000007.14:g.2943751_2943778dup, NC_000007.14:g.2943749_2943778dup, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983390_2983412del, NC_000007.13:g.2983395_2983412del, NC_000007.13:g.2983396_2983412del, NC_000007.13:g.2983398_2983412del, NC_000007.13:g.2983399_2983412del, NC_000007.13:g.2983400_2983412del, NC_000007.13:g.2983401_2983412del, NC_000007.13:g.2983402_2983412del, NC_000007.13:g.2983403_2983412del, NC_000007.13:g.2983404_2983412del, NC_000007.13:g.2983405_2983412del, NC_000007.13:g.2983406_2983412del, NC_000007.13:g.2983407_2983412del, NC_000007.13:g.2983408_2983412del, NC_000007.13:g.2983409_2983412del, NC_000007.13:g.2983410_2983412del, NC_000007.13:g.2983411_2983412del, NC_000007.13:g.2983412del, NC_000007.13:g.2983412dup, NC_000007.13:g.2983411_2983412dup, NC_000007.13:g.2983410_2983412dup, NC_000007.13:g.2983409_2983412dup, NC_000007.13:g.2983408_2983412dup, NC_000007.13:g.2983407_2983412dup, NC_000007.13:g.2983406_2983412dup, NC_000007.13:g.2983405_2983412dup, NC_000007.13:g.2983404_2983412dup, NC_000007.13:g.2983403_2983412dup, NC_000007.13:g.2983402_2983412dup, NC_000007.13:g.2983401_2983412dup, NC_000007.13:g.2983400_2983412dup, NC_000007.13:g.2983399_2983412dup, NC_000007.13:g.2983398_2983412dup, NC_000007.13:g.2983397_2983412dup, NC_000007.13:g.2983396_2983412dup, NC_000007.13:g.2983395_2983412dup, NC_000007.13:g.2983394_2983412dup, NC_000007.13:g.2983393_2983412dup, NC_000007.13:g.2983392_2983412dup, NC_000007.13:g.2983391_2983412dup, NC_000007.13:g.2983390_2983412dup, NC_000007.13:g.2983389_2983412dup, NC_000007.13:g.2983388_2983412dup, NC_000007.13:g.2983387_2983412dup, NC_000007.13:g.2983386_2983412dup, NC_000007.13:g.2983385_2983412dup, NC_000007.13:g.2983383_2983412dup, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027759.1:g.105105_105127del, NG_027759.1:g.105110_105127del, NG_027759.1:g.105111_105127del, NG_027759.1:g.105113_105127del, NG_027759.1:g.105114_105127del, NG_027759.1:g.105115_105127del, NG_027759.1:g.105116_105127del, NG_027759.1:g.105117_105127del, NG_027759.1:g.105118_105127del, NG_027759.1:g.105119_105127del, NG_027759.1:g.105120_105127del, NG_027759.1:g.105121_105127del, NG_027759.1:g.105122_105127del, NG_027759.1:g.105123_105127del, NG_027759.1:g.105124_105127del, NG_027759.1:g.105125_105127del, NG_027759.1:g.105126_105127del, NG_027759.1:g.105127del, NG_027759.1:g.105127dup, NG_027759.1:g.105126_105127dup, NG_027759.1:g.105125_105127dup, NG_027759.1:g.105124_105127dup, NG_027759.1:g.105123_105127dup, NG_027759.1:g.105122_105127dup, NG_027759.1:g.105121_105127dup, NG_027759.1:g.105120_105127dup, NG_027759.1:g.105119_105127dup, NG_027759.1:g.105118_105127dup, NG_027759.1:g.105117_105127dup, NG_027759.1:g.105116_105127dup, NG_027759.1:g.105115_105127dup, NG_027759.1:g.105114_105127dup, NG_027759.1:g.105113_105127dup, NG_027759.1:g.105112_105127dup, NG_027759.1:g.105111_105127dup, NG_027759.1:g.105110_105127dup, NG_027759.1:g.105109_105127dup, NG_027759.1:g.105108_105127dup, NG_027759.1:g.105107_105127dup, NG_027759.1:g.105106_105127dup, NG_027759.1:g.105105_105127dup, NG_027759.1:g.105104_105127dup, NG_027759.1:g.105103_105127dup, NG_027759.1:g.105102_105127dup, NG_027759.1:g.105101_105127dup, NG_027759.1:g.105100_105127dup, NG_027759.1:g.105098_105127dup, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        4.

        rs1491335983 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GA>- [Show Flanks]
          Chromosome:
          7:2945727 (GRCh38)
          7:2985361 (GRCh37)
          Canonical SPDI:
          NC_000007.14:2945726:GA:
          Gene:
          CARD11 (Varview), CARD11-AS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          HGVS:
          5.

          rs1491062233 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            7:2943788 (GRCh38)
            7:2983423 (GRCh37)
            Canonical SPDI:
            NC_000007.14:2943788::G
            Gene:
            CARD11 (Varview), CARD11-AS1 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            HGVS:
            7.

            rs1490177060 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A,C,T [Show Flanks]
              Chromosome:
              7:2943577 (GRCh38)
              7:2983211 (GRCh37)
              Canonical SPDI:
              NC_000007.14:2943576:G:A,NC_000007.14:2943576:G:C,NC_000007.14:2943576:G:T
              Gene:
              CARD11 (Varview), CARD11-AS1 (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              HGVS:
              8.

              rs1490126380 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->A [Show Flanks]
                Chromosome:
                7:2943798 (GRCh38)
                7:2983433 (GRCh37)
                Canonical SPDI:
                NC_000007.14:2943798:AAAA:AAAAA
                Gene:
                CARD11 (Varview), CARD11-AS1 (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAAAA=0.00034/4 (ALFA)
                HGVS:
                9.

                rs1489782433 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  7:2942645 (GRCh38)
                  7:2982279 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:2942644:G:T
                  Gene:
                  CARD11 (Varview), CARD11-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,intron_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:
                  10.

                  rs1489495293 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    7:2942578 (GRCh38)
                    7:2982212 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:2942577:T:A
                    Gene:
                    CARD11 (Varview), CARD11-AS1 (Varview)
                    Functional Consequence:
                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:
                    11.

                    rs1488705240 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TCAC>- [Show Flanks]
                      Chromosome:
                      7:2944629 (GRCh38)
                      7:2984263 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:2944620:TCACTCACTCAC:TCACTCAC
                      Gene:
                      CARD11 (Varview), CARD11-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TCACTCAC=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000011/3 (TOPMED)
                      HGVS:
                      12.

                      rs1487849649 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G,T [Show Flanks]
                        Chromosome:
                        7:2944055 (GRCh38)
                        7:2983689 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:2944054:A:G,NC_000007.14:2944054:A:T
                        Gene:
                        CARD11 (Varview), CARD11-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        G=0.000014/2 (GnomAD)
                        HGVS:
                        13.

                        rs1486652889 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:2947296 (GRCh38)
                          7:2986930 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:2947295:G:A
                          Gene:
                          CARD11 (Varview), CARD11-AS1 (Varview)
                          Functional Consequence:
                          downstream_transcript_variant,500B_downstream_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000071/1 (ALFA)
                          A=0.000004/1 (TOPMED)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          14.

                          rs1486072963 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            7:2947034 (GRCh38)
                            7:2986668 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:2947033:C:T
                            Gene:
                            CARD11 (Varview), CARD11-AS1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.00003/8 (TOPMED)
                            T=0.000043/6 (GnomAD)
                            T=0.009346/2 (Vietnamese)
                            HGVS:
                            15.

                            rs1483602666 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              7:2943618 (GRCh38)
                              7:2983252 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:2943617:G:A
                              Gene:
                              CARD11 (Varview), CARD11-AS1 (Varview)
                              Functional Consequence:
                              intron_variant,2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000011/3 (TOPMED)
                              A=0.000071/1 (TOMMO)
                              HGVS:
                              16.

                              rs1483546770 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                7:2942580 (GRCh38)
                                7:2982214 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:2942579:G:A
                                Gene:
                                CARD11 (Varview), CARD11-AS1 (Varview)
                                Functional Consequence:
                                intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000014/2 (GnomAD)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                17.

                                rs1482945645 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  7:2942751 (GRCh38)
                                  7:2982385 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:2942750:A:C
                                  Gene:
                                  CARD11 (Varview), CARD11-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  18.

                                  rs1482533709 has merged into rs869179009 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    7:2943756 (GRCh38)
                                    7:2983390 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:2943748:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    CARD11 (Varview), CARD11-AS1 (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAA=0./0 (ALFA)
                                    HGVS:
                                    NC_000007.14:g.2943756_2943778del, NC_000007.14:g.2943761_2943778del, NC_000007.14:g.2943762_2943778del, NC_000007.14:g.2943764_2943778del, NC_000007.14:g.2943765_2943778del, NC_000007.14:g.2943766_2943778del, NC_000007.14:g.2943767_2943778del, NC_000007.14:g.2943768_2943778del, NC_000007.14:g.2943769_2943778del, NC_000007.14:g.2943770_2943778del, NC_000007.14:g.2943771_2943778del, NC_000007.14:g.2943772_2943778del, NC_000007.14:g.2943773_2943778del, NC_000007.14:g.2943774_2943778del, NC_000007.14:g.2943775_2943778del, NC_000007.14:g.2943776_2943778del, NC_000007.14:g.2943777_2943778del, NC_000007.14:g.2943778del, NC_000007.14:g.2943778dup, NC_000007.14:g.2943777_2943778dup, NC_000007.14:g.2943776_2943778dup, NC_000007.14:g.2943775_2943778dup, NC_000007.14:g.2943774_2943778dup, NC_000007.14:g.2943773_2943778dup, NC_000007.14:g.2943772_2943778dup, NC_000007.14:g.2943771_2943778dup, NC_000007.14:g.2943770_2943778dup, NC_000007.14:g.2943769_2943778dup, NC_000007.14:g.2943768_2943778dup, NC_000007.14:g.2943767_2943778dup, NC_000007.14:g.2943766_2943778dup, NC_000007.14:g.2943765_2943778dup, NC_000007.14:g.2943764_2943778dup, NC_000007.14:g.2943763_2943778dup, NC_000007.14:g.2943762_2943778dup, NC_000007.14:g.2943761_2943778dup, NC_000007.14:g.2943760_2943778dup, NC_000007.14:g.2943759_2943778dup, NC_000007.14:g.2943758_2943778dup, NC_000007.14:g.2943757_2943778dup, NC_000007.14:g.2943756_2943778dup, NC_000007.14:g.2943755_2943778dup, NC_000007.14:g.2943754_2943778dup, NC_000007.14:g.2943753_2943778dup, NC_000007.14:g.2943752_2943778dup, NC_000007.14:g.2943751_2943778dup, NC_000007.14:g.2943749_2943778dup, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.2943778_2943779insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983390_2983412del, NC_000007.13:g.2983395_2983412del, NC_000007.13:g.2983396_2983412del, NC_000007.13:g.2983398_2983412del, NC_000007.13:g.2983399_2983412del, NC_000007.13:g.2983400_2983412del, NC_000007.13:g.2983401_2983412del, NC_000007.13:g.2983402_2983412del, NC_000007.13:g.2983403_2983412del, NC_000007.13:g.2983404_2983412del, NC_000007.13:g.2983405_2983412del, NC_000007.13:g.2983406_2983412del, NC_000007.13:g.2983407_2983412del, NC_000007.13:g.2983408_2983412del, NC_000007.13:g.2983409_2983412del, NC_000007.13:g.2983410_2983412del, NC_000007.13:g.2983411_2983412del, NC_000007.13:g.2983412del, NC_000007.13:g.2983412dup, NC_000007.13:g.2983411_2983412dup, NC_000007.13:g.2983410_2983412dup, NC_000007.13:g.2983409_2983412dup, NC_000007.13:g.2983408_2983412dup, NC_000007.13:g.2983407_2983412dup, NC_000007.13:g.2983406_2983412dup, NC_000007.13:g.2983405_2983412dup, NC_000007.13:g.2983404_2983412dup, NC_000007.13:g.2983403_2983412dup, NC_000007.13:g.2983402_2983412dup, NC_000007.13:g.2983401_2983412dup, NC_000007.13:g.2983400_2983412dup, NC_000007.13:g.2983399_2983412dup, NC_000007.13:g.2983398_2983412dup, NC_000007.13:g.2983397_2983412dup, NC_000007.13:g.2983396_2983412dup, NC_000007.13:g.2983395_2983412dup, NC_000007.13:g.2983394_2983412dup, NC_000007.13:g.2983393_2983412dup, NC_000007.13:g.2983392_2983412dup, NC_000007.13:g.2983391_2983412dup, NC_000007.13:g.2983390_2983412dup, NC_000007.13:g.2983389_2983412dup, NC_000007.13:g.2983388_2983412dup, NC_000007.13:g.2983387_2983412dup, NC_000007.13:g.2983386_2983412dup, NC_000007.13:g.2983385_2983412dup, NC_000007.13:g.2983383_2983412dup, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.2983412_2983413insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_027759.1:g.105105_105127del, NG_027759.1:g.105110_105127del, NG_027759.1:g.105111_105127del, NG_027759.1:g.105113_105127del, NG_027759.1:g.105114_105127del, NG_027759.1:g.105115_105127del, NG_027759.1:g.105116_105127del, NG_027759.1:g.105117_105127del, NG_027759.1:g.105118_105127del, NG_027759.1:g.105119_105127del, NG_027759.1:g.105120_105127del, NG_027759.1:g.105121_105127del, NG_027759.1:g.105122_105127del, NG_027759.1:g.105123_105127del, NG_027759.1:g.105124_105127del, NG_027759.1:g.105125_105127del, NG_027759.1:g.105126_105127del, NG_027759.1:g.105127del, NG_027759.1:g.105127dup, NG_027759.1:g.105126_105127dup, NG_027759.1:g.105125_105127dup, NG_027759.1:g.105124_105127dup, NG_027759.1:g.105123_105127dup, NG_027759.1:g.105122_105127dup, NG_027759.1:g.105121_105127dup, NG_027759.1:g.105120_105127dup, NG_027759.1:g.105119_105127dup, NG_027759.1:g.105118_105127dup, NG_027759.1:g.105117_105127dup, NG_027759.1:g.105116_105127dup, NG_027759.1:g.105115_105127dup, NG_027759.1:g.105114_105127dup, NG_027759.1:g.105113_105127dup, NG_027759.1:g.105112_105127dup, NG_027759.1:g.105111_105127dup, NG_027759.1:g.105110_105127dup, NG_027759.1:g.105109_105127dup, NG_027759.1:g.105108_105127dup, NG_027759.1:g.105107_105127dup, NG_027759.1:g.105106_105127dup, NG_027759.1:g.105105_105127dup, NG_027759.1:g.105104_105127dup, NG_027759.1:g.105103_105127dup, NG_027759.1:g.105102_105127dup, NG_027759.1:g.105101_105127dup, NG_027759.1:g.105100_105127dup, NG_027759.1:g.105098_105127dup, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_027759.1:g.105127_105128insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    19.

                                    rs1482056837 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      7:2945262 (GRCh38)
                                      7:2984896 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:2945261:C:T
                                      Gene:
                                      CARD11 (Varview), CARD11-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      20.

                                      rs1481927059 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        7:2943521 (GRCh38)
                                        7:2983155 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:2943520:C:T
                                        Gene:
                                        CARD11 (Varview), CARD11-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

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