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Items: 1 to 20 of 17659

1.

rs1491582009 has merged into rs373848945 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT [Show Flanks]
    Chromosome:
    14:73716716 (GRCh38)
    14:74183419 (GRCh37)
    Canonical SPDI:
    NC_000014.9:73716709:TTTTTTTT:TTTTTT,NC_000014.9:73716709:TTTTTTTT:TTTTTTT,NC_000014.9:73716709:TTTTTTTT:TTTTTTTTT
    Gene:
    MIDEAS (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTT=0./0 (ALFA)
    -=0.01317/24 (Korea1K)
    HGVS:
    NC_000014.9:g.73716716_73716717del, NC_000014.9:g.73716717del, NC_000014.9:g.73716717dup, NC_000014.8:g.74183419_74183420del, NC_000014.8:g.74183420del, NC_000014.8:g.74183420dup, NM_194278.4:c.*2590_*2591del, NM_194278.4:c.*2591del, NM_194278.4:c.*2591dup, NM_194278.3:c.*2590_*2591del, NM_194278.3:c.*2591del, NM_194278.3:c.*2591dup, NM_001043318.3:c.*2590_*2591del, NM_001043318.3:c.*2591del, NM_001043318.3:c.*2591dup, NM_001043318.2:c.*2590_*2591del, NM_001043318.2:c.*2591del, NM_001043318.2:c.*2591dup, NM_001043318.1:c.*2590_*2591del, NM_001043318.1:c.*2591del, NM_001043318.1:c.*2591dup, NM_001367710.1:c.*2132_*2133del, NM_001367710.1:c.*2133del, NM_001367710.1:c.*2133dup, XM_047431914.1:c.*2132_*2133del, XM_047431914.1:c.*2133del, XM_047431914.1:c.*2133dup, XM_005268206.1:c.*2132_*2133del, XM_005268206.1:c.*2133del, XM_005268206.1:c.*2133dup, XM_047431913.1:c.*2132_*2133del, XM_047431913.1:c.*2133del, XM_047431913.1:c.*2133dup, NM_001394972.1:c.*2132_*2133del, NM_001394972.1:c.*2133del, NM_001394972.1:c.*2133dup

    2.

    rs1491561357 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TG>- [Show Flanks]
      Chromosome:
      14:73756307 (GRCh38)
      14:74223010 (GRCh37)
      Canonical SPDI:
      NC_000014.9:73756305:GTG:G
      Gene:
      MIDEAS (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.00042/5 (ALFA)
      -=0.00004/1 (TOMMO)
      -=0.03754/3453 (GnomAD)
      HGVS:

      3.

      rs1491559352 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->C [Show Flanks]
        Chromosome:
        14:73764344 (GRCh38)
        14:74231048 (GRCh37)
        Canonical SPDI:
        NC_000014.9:73764344::C
        Gene:
        MIDEAS (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.00025/3 (ALFA)
        C=0.00077/42 (GnomAD)
        HGVS:

        4.

        rs1491520409 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          GT>- [Show Flanks]
          Chromosome:
          14:73769902 (GRCh38)
          14:74236605 (GRCh37)
          Canonical SPDI:
          NC_000014.9:73769901:GT:
          Gene:
          MIDEAS (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.02335/277 (ALFA)
          HGVS:

          5.

          rs1491496209 has merged into rs61402555 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
            Chromosome:
            14:73772811 (GRCh38)
            14:74239514 (GRCh37)
            Canonical SPDI:
            NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:73772794:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
            Gene:
            MIDEAS (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GTGTGTGTGTGTGTGT=0./0 (ALFA)
            HGVS:
            NC_000014.9:g.73772795GT[8], NC_000014.9:g.73772795GT[9], NC_000014.9:g.73772795GT[11], NC_000014.9:g.73772795GT[12], NC_000014.9:g.73772795GT[13], NC_000014.9:g.73772795GT[14], NC_000014.9:g.73772795GT[15], NC_000014.9:g.73772795GT[16], NC_000014.9:g.73772795GT[17], NC_000014.9:g.73772795GT[18], NC_000014.9:g.73772795GT[19], NC_000014.9:g.73772795GT[21], NC_000014.9:g.73772795GT[22], NC_000014.9:g.73772795GT[23], NC_000014.9:g.73772795GT[24], NC_000014.9:g.73772795GT[25], NC_000014.9:g.73772795GT[26], NC_000014.9:g.73772795GT[27], NC_000014.9:g.73772795GT[28], NC_000014.9:g.73772795GT[29], NC_000014.9:g.73772795GT[30], NC_000014.9:g.73772795GT[31], NC_000014.9:g.73772795GT[32], NC_000014.8:g.74239498GT[8], NC_000014.8:g.74239498GT[9], NC_000014.8:g.74239498GT[11], NC_000014.8:g.74239498GT[12], NC_000014.8:g.74239498GT[13], NC_000014.8:g.74239498GT[14], NC_000014.8:g.74239498GT[15], NC_000014.8:g.74239498GT[16], NC_000014.8:g.74239498GT[17], NC_000014.8:g.74239498GT[18], NC_000014.8:g.74239498GT[19], NC_000014.8:g.74239498GT[21], NC_000014.8:g.74239498GT[22], NC_000014.8:g.74239498GT[23], NC_000014.8:g.74239498GT[24], NC_000014.8:g.74239498GT[25], NC_000014.8:g.74239498GT[26], NC_000014.8:g.74239498GT[27], NC_000014.8:g.74239498GT[28], NC_000014.8:g.74239498GT[29], NC_000014.8:g.74239498GT[30], NC_000014.8:g.74239498GT[31], NC_000014.8:g.74239498GT[32]

            6.

            rs1491457509 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              14:73732785 (GRCh38)
              14:74199488 (GRCh37)
              Canonical SPDI:
              NC_000014.9:73732784:CA:
              Gene:
              MIDEAS (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00008/1 (ALFA)
              HGVS:

              7.

              rs1491385355 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->CTGTGT
                Chromosome:
                no mapping
                Canonical SPDI:

                8.

                rs1491330137 has merged into rs750452207 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  14:73716695 (GRCh38)
                  14:74183398 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73716682:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  MIDEAS (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.2/8 (GENOME_DK)
                  HGVS:
                  NC_000014.9:g.73716695_73716709del, NC_000014.9:g.73716696_73716709del, NC_000014.9:g.73716697_73716709del, NC_000014.9:g.73716698_73716709del, NC_000014.9:g.73716699_73716709del, NC_000014.9:g.73716700_73716709del, NC_000014.9:g.73716701_73716709del, NC_000014.9:g.73716702_73716709del, NC_000014.9:g.73716703_73716709del, NC_000014.9:g.73716704_73716709del, NC_000014.9:g.73716705_73716709del, NC_000014.9:g.73716706_73716709del, NC_000014.9:g.73716707_73716709del, NC_000014.9:g.73716708_73716709del, NC_000014.9:g.73716709del, NC_000014.9:g.73716709dup, NC_000014.9:g.73716708_73716709dup, NC_000014.9:g.73716707_73716709dup, NC_000014.9:g.73716706_73716709dup, NC_000014.9:g.73716705_73716709dup, NC_000014.9:g.73716704_73716709dup, NC_000014.9:g.73716703_73716709dup, NC_000014.9:g.73716702_73716709dup, NC_000014.9:g.73716701_73716709dup, NC_000014.8:g.74183398_74183412del, NC_000014.8:g.74183399_74183412del, NC_000014.8:g.74183400_74183412del, NC_000014.8:g.74183401_74183412del, NC_000014.8:g.74183402_74183412del, NC_000014.8:g.74183403_74183412del, NC_000014.8:g.74183404_74183412del, NC_000014.8:g.74183405_74183412del, NC_000014.8:g.74183406_74183412del, NC_000014.8:g.74183407_74183412del, NC_000014.8:g.74183408_74183412del, NC_000014.8:g.74183409_74183412del, NC_000014.8:g.74183410_74183412del, NC_000014.8:g.74183411_74183412del, NC_000014.8:g.74183412del, NC_000014.8:g.74183412dup, NC_000014.8:g.74183411_74183412dup, NC_000014.8:g.74183410_74183412dup, NC_000014.8:g.74183409_74183412dup, NC_000014.8:g.74183408_74183412dup, NC_000014.8:g.74183407_74183412dup, NC_000014.8:g.74183406_74183412dup, NC_000014.8:g.74183405_74183412dup, NC_000014.8:g.74183404_74183412dup, NM_194278.4:c.*2604_*2618del, NM_194278.4:c.*2605_*2618del, NM_194278.4:c.*2606_*2618del, NM_194278.4:c.*2607_*2618del, NM_194278.4:c.*2608_*2618del, NM_194278.4:c.*2609_*2618del, NM_194278.4:c.*2610_*2618del, NM_194278.4:c.*2611_*2618del, NM_194278.4:c.*2612_*2618del, NM_194278.4:c.*2613_*2618del, NM_194278.4:c.*2614_*2618del, NM_194278.4:c.*2615_*2618del, NM_194278.4:c.*2616_*2618del, NM_194278.4:c.*2617_*2618del, NM_194278.4:c.*2618del, NM_194278.4:c.*2618dup, NM_194278.4:c.*2617_*2618dup, NM_194278.4:c.*2616_*2618dup, NM_194278.4:c.*2615_*2618dup, NM_194278.4:c.*2614_*2618dup, NM_194278.4:c.*2613_*2618dup, NM_194278.4:c.*2612_*2618dup, NM_194278.4:c.*2611_*2618dup, NM_194278.4:c.*2610_*2618dup, NM_194278.3:c.*2604_*2618del, NM_194278.3:c.*2605_*2618del, NM_194278.3:c.*2606_*2618del, NM_194278.3:c.*2607_*2618del, NM_194278.3:c.*2608_*2618del, NM_194278.3:c.*2609_*2618del, NM_194278.3:c.*2610_*2618del, NM_194278.3:c.*2611_*2618del, NM_194278.3:c.*2612_*2618del, NM_194278.3:c.*2613_*2618del, NM_194278.3:c.*2614_*2618del, NM_194278.3:c.*2615_*2618del, NM_194278.3:c.*2616_*2618del, NM_194278.3:c.*2617_*2618del, NM_194278.3:c.*2618del, NM_194278.3:c.*2618dup, NM_194278.3:c.*2617_*2618dup, NM_194278.3:c.*2616_*2618dup, NM_194278.3:c.*2615_*2618dup, NM_194278.3:c.*2614_*2618dup, NM_194278.3:c.*2613_*2618dup, NM_194278.3:c.*2612_*2618dup, NM_194278.3:c.*2611_*2618dup, NM_194278.3:c.*2610_*2618dup, NM_001043318.3:c.*2604_*2618del, NM_001043318.3:c.*2605_*2618del, NM_001043318.3:c.*2606_*2618del, NM_001043318.3:c.*2607_*2618del, NM_001043318.3:c.*2608_*2618del, NM_001043318.3:c.*2609_*2618del, NM_001043318.3:c.*2610_*2618del, NM_001043318.3:c.*2611_*2618del, NM_001043318.3:c.*2612_*2618del, NM_001043318.3:c.*2613_*2618del, NM_001043318.3:c.*2614_*2618del, NM_001043318.3:c.*2615_*2618del, NM_001043318.3:c.*2616_*2618del, NM_001043318.3:c.*2617_*2618del, NM_001043318.3:c.*2618del, NM_001043318.3:c.*2618dup, NM_001043318.3:c.*2617_*2618dup, NM_001043318.3:c.*2616_*2618dup, NM_001043318.3:c.*2615_*2618dup, NM_001043318.3:c.*2614_*2618dup, NM_001043318.3:c.*2613_*2618dup, NM_001043318.3:c.*2612_*2618dup, NM_001043318.3:c.*2611_*2618dup, NM_001043318.3:c.*2610_*2618dup, NM_001043318.2:c.*2604_*2618del, NM_001043318.2:c.*2605_*2618del, NM_001043318.2:c.*2606_*2618del, NM_001043318.2:c.*2607_*2618del, NM_001043318.2:c.*2608_*2618del, NM_001043318.2:c.*2609_*2618del, NM_001043318.2:c.*2610_*2618del, NM_001043318.2:c.*2611_*2618del, NM_001043318.2:c.*2612_*2618del, NM_001043318.2:c.*2613_*2618del, NM_001043318.2:c.*2614_*2618del, NM_001043318.2:c.*2615_*2618del, NM_001043318.2:c.*2616_*2618del, NM_001043318.2:c.*2617_*2618del, NM_001043318.2:c.*2618del, NM_001043318.2:c.*2618dup, NM_001043318.2:c.*2617_*2618dup, NM_001043318.2:c.*2616_*2618dup, NM_001043318.2:c.*2615_*2618dup, NM_001043318.2:c.*2614_*2618dup, NM_001043318.2:c.*2613_*2618dup, NM_001043318.2:c.*2612_*2618dup, NM_001043318.2:c.*2611_*2618dup, NM_001043318.2:c.*2610_*2618dup, NM_001043318.1:c.*2604_*2618del, NM_001043318.1:c.*2605_*2618del, NM_001043318.1:c.*2606_*2618del, NM_001043318.1:c.*2607_*2618del, NM_001043318.1:c.*2608_*2618del, NM_001043318.1:c.*2609_*2618del, NM_001043318.1:c.*2610_*2618del, NM_001043318.1:c.*2611_*2618del, NM_001043318.1:c.*2612_*2618del, NM_001043318.1:c.*2613_*2618del, NM_001043318.1:c.*2614_*2618del, NM_001043318.1:c.*2615_*2618del, NM_001043318.1:c.*2616_*2618del, NM_001043318.1:c.*2617_*2618del, NM_001043318.1:c.*2618del, NM_001043318.1:c.*2618dup, NM_001043318.1:c.*2617_*2618dup, NM_001043318.1:c.*2616_*2618dup, NM_001043318.1:c.*2615_*2618dup, NM_001043318.1:c.*2614_*2618dup, NM_001043318.1:c.*2613_*2618dup, NM_001043318.1:c.*2612_*2618dup, NM_001043318.1:c.*2611_*2618dup, NM_001043318.1:c.*2610_*2618dup, NM_001367710.1:c.*2146_*2160del, NM_001367710.1:c.*2147_*2160del, NM_001367710.1:c.*2148_*2160del, NM_001367710.1:c.*2149_*2160del, NM_001367710.1:c.*2150_*2160del, NM_001367710.1:c.*2151_*2160del, NM_001367710.1:c.*2152_*2160del, NM_001367710.1:c.*2153_*2160del, NM_001367710.1:c.*2154_*2160del, NM_001367710.1:c.*2155_*2160del, NM_001367710.1:c.*2156_*2160del, NM_001367710.1:c.*2157_*2160del, NM_001367710.1:c.*2158_*2160del, NM_001367710.1:c.*2159_*2160del, NM_001367710.1:c.*2160del, NM_001367710.1:c.*2160dup, NM_001367710.1:c.*2159_*2160dup, NM_001367710.1:c.*2158_*2160dup, NM_001367710.1:c.*2157_*2160dup, NM_001367710.1:c.*2156_*2160dup, NM_001367710.1:c.*2155_*2160dup, NM_001367710.1:c.*2154_*2160dup, NM_001367710.1:c.*2153_*2160dup, NM_001367710.1:c.*2152_*2160dup, XM_047431914.1:c.*2146_*2160del, XM_047431914.1:c.*2147_*2160del, XM_047431914.1:c.*2148_*2160del, XM_047431914.1:c.*2149_*2160del, XM_047431914.1:c.*2150_*2160del, XM_047431914.1:c.*2151_*2160del, XM_047431914.1:c.*2152_*2160del, XM_047431914.1:c.*2153_*2160del, XM_047431914.1:c.*2154_*2160del, XM_047431914.1:c.*2155_*2160del, XM_047431914.1:c.*2156_*2160del, XM_047431914.1:c.*2157_*2160del, XM_047431914.1:c.*2158_*2160del, XM_047431914.1:c.*2159_*2160del, XM_047431914.1:c.*2160del, XM_047431914.1:c.*2160dup, XM_047431914.1:c.*2159_*2160dup, XM_047431914.1:c.*2158_*2160dup, XM_047431914.1:c.*2157_*2160dup, XM_047431914.1:c.*2156_*2160dup, XM_047431914.1:c.*2155_*2160dup, XM_047431914.1:c.*2154_*2160dup, XM_047431914.1:c.*2153_*2160dup, XM_047431914.1:c.*2152_*2160dup, XM_005268206.1:c.*2146_*2160del, XM_005268206.1:c.*2147_*2160del, XM_005268206.1:c.*2148_*2160del, XM_005268206.1:c.*2149_*2160del, XM_005268206.1:c.*2150_*2160del, XM_005268206.1:c.*2151_*2160del, XM_005268206.1:c.*2152_*2160del, XM_005268206.1:c.*2153_*2160del, XM_005268206.1:c.*2154_*2160del, XM_005268206.1:c.*2155_*2160del, XM_005268206.1:c.*2156_*2160del, XM_005268206.1:c.*2157_*2160del, XM_005268206.1:c.*2158_*2160del, XM_005268206.1:c.*2159_*2160del, XM_005268206.1:c.*2160del, XM_005268206.1:c.*2160dup, XM_005268206.1:c.*2159_*2160dup, XM_005268206.1:c.*2158_*2160dup, XM_005268206.1:c.*2157_*2160dup, XM_005268206.1:c.*2156_*2160dup, XM_005268206.1:c.*2155_*2160dup, XM_005268206.1:c.*2154_*2160dup, XM_005268206.1:c.*2153_*2160dup, XM_005268206.1:c.*2152_*2160dup, XM_047431913.1:c.*2146_*2160del, XM_047431913.1:c.*2147_*2160del, XM_047431913.1:c.*2148_*2160del, XM_047431913.1:c.*2149_*2160del, XM_047431913.1:c.*2150_*2160del, XM_047431913.1:c.*2151_*2160del, XM_047431913.1:c.*2152_*2160del, XM_047431913.1:c.*2153_*2160del, XM_047431913.1:c.*2154_*2160del, XM_047431913.1:c.*2155_*2160del, XM_047431913.1:c.*2156_*2160del, XM_047431913.1:c.*2157_*2160del, XM_047431913.1:c.*2158_*2160del, XM_047431913.1:c.*2159_*2160del, XM_047431913.1:c.*2160del, XM_047431913.1:c.*2160dup, XM_047431913.1:c.*2159_*2160dup, XM_047431913.1:c.*2158_*2160dup, XM_047431913.1:c.*2157_*2160dup, XM_047431913.1:c.*2156_*2160dup, XM_047431913.1:c.*2155_*2160dup, XM_047431913.1:c.*2154_*2160dup, XM_047431913.1:c.*2153_*2160dup, XM_047431913.1:c.*2152_*2160dup, NM_001394972.1:c.*2146_*2160del, NM_001394972.1:c.*2147_*2160del, NM_001394972.1:c.*2148_*2160del, NM_001394972.1:c.*2149_*2160del, NM_001394972.1:c.*2150_*2160del, NM_001394972.1:c.*2151_*2160del, NM_001394972.1:c.*2152_*2160del, NM_001394972.1:c.*2153_*2160del, NM_001394972.1:c.*2154_*2160del, NM_001394972.1:c.*2155_*2160del, NM_001394972.1:c.*2156_*2160del, NM_001394972.1:c.*2157_*2160del, NM_001394972.1:c.*2158_*2160del, NM_001394972.1:c.*2159_*2160del, NM_001394972.1:c.*2160del, NM_001394972.1:c.*2160dup, NM_001394972.1:c.*2159_*2160dup, NM_001394972.1:c.*2158_*2160dup, NM_001394972.1:c.*2157_*2160dup, NM_001394972.1:c.*2156_*2160dup, NM_001394972.1:c.*2155_*2160dup, NM_001394972.1:c.*2154_*2160dup, NM_001394972.1:c.*2153_*2160dup, NM_001394972.1:c.*2152_*2160dup, NM_018678.1:c.*437_*451del, NM_018678.1:c.*438_*451del, NM_018678.1:c.*439_*451del, NM_018678.1:c.*440_*451del, NM_018678.1:c.*441_*451del, NM_018678.1:c.*442_*451del, NM_018678.1:c.*443_*451del, NM_018678.1:c.*444_*451del, NM_018678.1:c.*445_*451del, NM_018678.1:c.*446_*451del, NM_018678.1:c.*447_*451del, NM_018678.1:c.*448_*451del, NM_018678.1:c.*449_*451del, NM_018678.1:c.*450_*451del, NM_018678.1:c.*451del, NM_018678.1:c.*451dup, NM_018678.1:c.*450_*451dup, NM_018678.1:c.*449_*451dup, NM_018678.1:c.*448_*451dup, NM_018678.1:c.*447_*451dup, NM_018678.1:c.*446_*451dup, NM_018678.1:c.*445_*451dup, NM_018678.1:c.*444_*451dup, NM_018678.1:c.*443_*451dup

                  9.

                  rs1491274325 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    14:73764339 (GRCh38)
                    14:74231042 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:73764338:CA:
                    Gene:
                    MIDEAS (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491244823 has merged into rs55972902 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAGAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      14:73748782 (GRCh38)
                      14:74215485 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73748768:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      MIDEAS (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
                      AA=0.1719/861 (1000Genomes)
                      HGVS:

                      11.

                      rs1491231867 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CT>- [Show Flanks]
                        Chromosome:
                        14:73720236 (GRCh38)
                        14:74186939 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:73720235:CT:
                        Gene:
                        MIDEAS (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        -=0.001686/20 (ALFA)
                        -=0.001215/157 (GnomAD)
                        HGVS:

                        12.

                        rs1491214822 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->CGATGATGATGA [Show Flanks]
                          Chromosome:
                          14:73770365 (GRCh38)
                          14:74237069 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:73770365:GATGATGATGA:GATGATGATGACGATGATGATGA
                          Gene:
                          MIDEAS (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GATGATGATGACGATGATGATGA=0./0 (ALFA)
                          GATGATGATGAC=0.00002/1 (GnomAD)
                          HGVS:

                          13.

                          rs1491203519 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            TG>- [Show Flanks]
                            Chromosome:
                            14:73770365 (GRCh38)
                            14:74237068 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:73770364:TG:
                            Gene:
                            MIDEAS (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.00007/5 (GnomAD)
                            HGVS:

                            14.

                            rs1491190211 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              14:73716682 (GRCh38)
                              14:74183385 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:73716681:CA:
                              Gene:
                              MIDEAS (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.00185/22 (ALFA)
                              HGVS:

                              15.

                              rs1491131719 has merged into rs772519833 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                Chromosome:
                                14:73756275 (GRCh38)
                                14:74222978 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                                Gene:
                                MIDEAS (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GTGTGTGTGTGTG=0./0 (ALFA)
                                HGVS:
                                NC_000014.9:g.73756269TG[3], NC_000014.9:g.73756269TG[6], NC_000014.9:g.73756269TG[7], NC_000014.9:g.73756269TG[8], NC_000014.9:g.73756269TG[9], NC_000014.9:g.73756269TG[10], NC_000014.9:g.73756269TG[11], NC_000014.9:g.73756269TG[12], NC_000014.9:g.73756269TG[13], NC_000014.9:g.73756269TG[15], NC_000014.9:g.73756269TG[16], NC_000014.9:g.73756269TG[17], NC_000014.9:g.73756269TG[18], NC_000014.9:g.73756269TG[19], NC_000014.9:g.73756269TG[20], NC_000014.9:g.73756269TG[21], NC_000014.9:g.73756269TG[22], NC_000014.9:g.73756269TG[23], NC_000014.8:g.74222972TG[3], NC_000014.8:g.74222972TG[6], NC_000014.8:g.74222972TG[7], NC_000014.8:g.74222972TG[8], NC_000014.8:g.74222972TG[9], NC_000014.8:g.74222972TG[10], NC_000014.8:g.74222972TG[11], NC_000014.8:g.74222972TG[12], NC_000014.8:g.74222972TG[13], NC_000014.8:g.74222972TG[15], NC_000014.8:g.74222972TG[16], NC_000014.8:g.74222972TG[17], NC_000014.8:g.74222972TG[18], NC_000014.8:g.74222972TG[19], NC_000014.8:g.74222972TG[20], NC_000014.8:g.74222972TG[21], NC_000014.8:g.74222972TG[22], NC_000014.8:g.74222972TG[23], NG_080137.1:g.4TG[3], NG_080137.1:g.4TG[6], NG_080137.1:g.4TG[7], NG_080137.1:g.4TG[8], NG_080137.1:g.4TG[9], NG_080137.1:g.4TG[10], NG_080137.1:g.4TG[11], NG_080137.1:g.4TG[12], NG_080137.1:g.4TG[13], NG_080137.1:g.4TG[15], NG_080137.1:g.4TG[16], NG_080137.1:g.4TG[17], NG_080137.1:g.4TG[18], NG_080137.1:g.4TG[19], NG_080137.1:g.4TG[20], NG_080137.1:g.4TG[21], NG_080137.1:g.4TG[22], NG_080137.1:g.4TG[23]

                                16.

                                rs1491123729 has merged into rs57681928 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAA>-,A,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  14:73732795 (GRCh38)
                                  14:74199498 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73732785:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  MIDEAS (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAA=0./0 (ALFA)
                                  -=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000014.9:g.73732795_73732808del, NC_000014.9:g.73732796_73732808del, NC_000014.9:g.73732799_73732808del, NC_000014.9:g.73732801_73732808del, NC_000014.9:g.73732802_73732808del, NC_000014.9:g.73732803_73732808del, NC_000014.9:g.73732804_73732808del, NC_000014.9:g.73732805_73732808del, NC_000014.9:g.73732806_73732808del, NC_000014.9:g.73732807_73732808del, NC_000014.9:g.73732808del, NC_000014.9:g.73732808dup, NC_000014.9:g.73732807_73732808dup, NC_000014.9:g.73732806_73732808dup, NC_000014.9:g.73732805_73732808dup, NC_000014.9:g.73732804_73732808dup, NC_000014.9:g.73732803_73732808dup, NC_000014.8:g.74199498_74199511del, NC_000014.8:g.74199499_74199511del, NC_000014.8:g.74199502_74199511del, NC_000014.8:g.74199504_74199511del, NC_000014.8:g.74199505_74199511del, NC_000014.8:g.74199506_74199511del, NC_000014.8:g.74199507_74199511del, NC_000014.8:g.74199508_74199511del, NC_000014.8:g.74199509_74199511del, NC_000014.8:g.74199510_74199511del, NC_000014.8:g.74199511del, NC_000014.8:g.74199511dup, NC_000014.8:g.74199510_74199511dup, NC_000014.8:g.74199509_74199511dup, NC_000014.8:g.74199508_74199511dup, NC_000014.8:g.74199507_74199511dup, NC_000014.8:g.74199506_74199511dup

                                  17.

                                  rs1491099224 has merged into rs1555344807 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CGCGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCGCGCG [Show Flanks]
                                    Chromosome:
                                    14:73756297 (GRCh38)
                                    14:74223000 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:73756295:GCGCGCGCGCG:G,NC_000014.9:73756295:GCGCGCGCGCG:GCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCGCG,NC_000014.9:73756295:GCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCGCGCG
                                    Gene:
                                    MIDEAS (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCG=0./0 (ALFA)
                                    -=0.00003/8 (TOPMED)
                                    HGVS:
                                    NC_000014.9:g.73756297_73756306del, NC_000014.9:g.73756297CG[1], NC_000014.9:g.73756297CG[2], NC_000014.9:g.73756297CG[3], NC_000014.9:g.73756297CG[4], NC_000014.9:g.73756297CG[6], NC_000014.9:g.73756297CG[7], NC_000014.9:g.73756297CG[8], NC_000014.9:g.73756297CG[9], NC_000014.9:g.73756297CG[10], NC_000014.9:g.73756297CG[11], NC_000014.9:g.73756297CG[12], NC_000014.9:g.73756297CG[13], NC_000014.9:g.73756297CG[14], NC_000014.8:g.74223000_74223009del, NC_000014.8:g.74223000CG[1], NC_000014.8:g.74223000CG[2], NC_000014.8:g.74223000CG[3], NC_000014.8:g.74223000CG[4], NC_000014.8:g.74223000CG[6], NC_000014.8:g.74223000CG[7], NC_000014.8:g.74223000CG[8], NC_000014.8:g.74223000CG[9], NC_000014.8:g.74223000CG[10], NC_000014.8:g.74223000CG[11], NC_000014.8:g.74223000CG[12], NC_000014.8:g.74223000CG[13], NC_000014.8:g.74223000CG[14], NG_080137.1:g.32_41del, NG_080137.1:g.32CG[1], NG_080137.1:g.32CG[2], NG_080137.1:g.32CG[3], NG_080137.1:g.32CG[4], NG_080137.1:g.32CG[6], NG_080137.1:g.32CG[7], NG_080137.1:g.32CG[8], NG_080137.1:g.32CG[9], NG_080137.1:g.32CG[10], NG_080137.1:g.32CG[11], NG_080137.1:g.32CG[12], NG_080137.1:g.32CG[13], NG_080137.1:g.32CG[14]

                                    18.

                                    rs1491081232 has merged into rs772519833 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
                                      Chromosome:
                                      14:73756275 (GRCh38)
                                      14:74222978 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73756267:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
                                      Gene:
                                      MIDEAS (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GTGTGTGTGTGTG=0./0 (ALFA)
                                      HGVS:
                                      NC_000014.9:g.73756269TG[3], NC_000014.9:g.73756269TG[6], NC_000014.9:g.73756269TG[7], NC_000014.9:g.73756269TG[8], NC_000014.9:g.73756269TG[9], NC_000014.9:g.73756269TG[10], NC_000014.9:g.73756269TG[11], NC_000014.9:g.73756269TG[12], NC_000014.9:g.73756269TG[13], NC_000014.9:g.73756269TG[15], NC_000014.9:g.73756269TG[16], NC_000014.9:g.73756269TG[17], NC_000014.9:g.73756269TG[18], NC_000014.9:g.73756269TG[19], NC_000014.9:g.73756269TG[20], NC_000014.9:g.73756269TG[21], NC_000014.9:g.73756269TG[22], NC_000014.9:g.73756269TG[23], NC_000014.8:g.74222972TG[3], NC_000014.8:g.74222972TG[6], NC_000014.8:g.74222972TG[7], NC_000014.8:g.74222972TG[8], NC_000014.8:g.74222972TG[9], NC_000014.8:g.74222972TG[10], NC_000014.8:g.74222972TG[11], NC_000014.8:g.74222972TG[12], NC_000014.8:g.74222972TG[13], NC_000014.8:g.74222972TG[15], NC_000014.8:g.74222972TG[16], NC_000014.8:g.74222972TG[17], NC_000014.8:g.74222972TG[18], NC_000014.8:g.74222972TG[19], NC_000014.8:g.74222972TG[20], NC_000014.8:g.74222972TG[21], NC_000014.8:g.74222972TG[22], NC_000014.8:g.74222972TG[23], NG_080137.1:g.4TG[3], NG_080137.1:g.4TG[6], NG_080137.1:g.4TG[7], NG_080137.1:g.4TG[8], NG_080137.1:g.4TG[9], NG_080137.1:g.4TG[10], NG_080137.1:g.4TG[11], NG_080137.1:g.4TG[12], NG_080137.1:g.4TG[13], NG_080137.1:g.4TG[15], NG_080137.1:g.4TG[16], NG_080137.1:g.4TG[17], NG_080137.1:g.4TG[18], NG_080137.1:g.4TG[19], NG_080137.1:g.4TG[20], NG_080137.1:g.4TG[21], NG_080137.1:g.4TG[22], NG_080137.1:g.4TG[23]

                                      19.

                                      rs1491011831 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->CA [Show Flanks]
                                        Chromosome:
                                        14:73782360 (GRCh38)
                                        14:74249064 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:73782360:A:ACA
                                        Gene:
                                        MIDEAS (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        ACA=0./0 (ALFA)
                                        AC=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490901738 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          14:73778559 (GRCh38)
                                          14:74245262 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:73778558:T:C
                                          Gene:
                                          MIDEAS (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000021/3 (GnomAD)
                                          HGVS:

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