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Items: 1 to 20 of 7584

1.

rs1491589250 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    CA>- [Show Flanks]
    Chromosome:
    10:11342340 (GRCh38)
    10:11384339 (GRCh37)
    Canonical SPDI:
    NC_000010.11:11342339:CA:
    Gene:
    CELF2-AS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:

    2.

    rs1491352546 has merged into rs34817797 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
      Chromosome:
      10:11321531 (GRCh38)
      10:11363494 (GRCh37)
      Canonical SPDI:
      NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:11321519:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
      Gene:
      CELF2 (Varview), CELF2-AS1 (Varview)
      Functional Consequence:
      intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAAAA=0./0 (ALFA)
      A=0.3/12 (GENOME_DK)
      A=0.3067/184 (NorthernSweden)
      -=0.4912/2460 (1000Genomes)
      HGVS:

      3.

      rs1491311758 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->TAC [Show Flanks]
        Chromosome:
        10:11331283 (GRCh38)
        10:11373247 (GRCh37)
        Canonical SPDI:
        NC_000010.11:11331283::TAC
        Gene:
        CELF2 (Varview), CELF2-AS1 (Varview)
        Functional Consequence:
        3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TAC=0./0 (ALFA)
        TAC=0.000026/3 (GnomAD)
        HGVS:
        NC_000010.11:g.11331283_11331284insTAC, NC_000010.10:g.11373246_11373247insTAC, NM_006561.4:c.*872_*873insTAC, NM_006561.3:c.*872_*873insTAC, NM_001025077.3:c.*2230_*2231insTAC, NM_001025077.2:c.*2230_*2231insTAC, NM_001326330.2:c.*2230_*2231insTAC, NM_001326330.1:c.*2230_*2231insTAC, NM_001326343.2:c.*2230_*2231insTAC, NM_001326343.1:c.*2230_*2231insTAC, NM_001326329.2:c.*2230_*2231insTAC, NM_001326329.1:c.*2230_*2231insTAC, NM_001326340.2:c.*2230_*2231insTAC, NM_001326340.1:c.*2230_*2231insTAC, NM_001326334.2:c.*2230_*2231insTAC, NM_001326334.1:c.*2230_*2231insTAC, NM_001326342.2:c.*2230_*2231insTAC, NM_001326342.1:c.*2230_*2231insTAC, NM_001326349.2:c.*2230_*2231insTAC, NM_001326349.1:c.*2230_*2231insTAC, NM_001326319.2:c.*2230_*2231insTAC, NM_001326319.1:c.*2230_*2231insTAC, NM_001326336.2:c.*2230_*2231insTAC, NM_001326336.1:c.*2230_*2231insTAC, NM_001326339.2:c.*2230_*2231insTAC, NM_001326339.1:c.*2230_*2231insTAC, NM_001326338.2:c.*2230_*2231insTAC, NM_001326338.1:c.*2230_*2231insTAC, NM_001326321.2:c.*2230_*2231insTAC, NM_001326321.1:c.*2230_*2231insTAC, NM_001326318.2:c.*2230_*2231insTAC, NM_001326318.1:c.*2230_*2231insTAC, NM_001326317.2:c.*2230_*2231insTAC, NM_001326317.1:c.*2230_*2231insTAC, NM_001326333.2:c.*2230_*2231insTAC, NM_001326333.1:c.*2230_*2231insTAC, NM_001025076.2:c.*872_*873insTAC, NM_001326341.2:c.*872_*873insTAC, NM_001326341.1:c.*872_*873insTAC, NM_001326323.2:c.*872_*873insTAC, NM_001326323.1:c.*872_*873insTAC, NM_001326328.2:c.*872_*873insTAC, NM_001326328.1:c.*872_*873insTAC, NM_001326320.2:c.*872_*873insTAC, NM_001326320.1:c.*872_*873insTAC, NM_001326348.2:c.*872_*873insTAC, NM_001326348.1:c.*872_*873insTAC, NM_001326325.2:c.*872_*873insTAC, NM_001326325.1:c.*872_*873insTAC, XM_024447776.2:c.*872_*873insTAC, XM_024447776.1:c.*872_*873insTAC, NM_001326331.2:c.*872_*873insTAC, NM_001326331.1:c.*872_*873insTAC, NM_001326327.2:c.*872_*873insTAC, NM_001326327.1:c.*872_*873insTAC, NM_001326335.2:c.*872_*873insTAC, NM_001326335.1:c.*872_*873insTAC, NM_001326332.2:c.*872_*873insTAC, NM_001326332.1:c.*872_*873insTAC, NM_001326326.2:c.*872_*873insTAC, NM_001326326.1:c.*872_*873insTAC, NM_001326345.2:c.*872_*873insTAC, NM_001326345.1:c.*872_*873insTAC, NM_001326324.2:c.*872_*873insTAC, NM_001326324.1:c.*872_*873insTAC, NM_001326346.2:c.*872_*873insTAC, NM_001326346.1:c.*872_*873insTAC, NM_001326344.2:c.*872_*873insTAC, NM_001326344.1:c.*872_*873insTAC, NM_001326337.2:c.*872_*873insTAC, NM_001326337.1:c.*872_*873insTAC, NM_001394519.1:c.*2230_*2231insTAC, NM_001394513.1:c.*2230_*2231insTAC, NM_001394517.1:c.*2230_*2231insTAC, NM_001394502.1:c.*2230_*2231insTAC, XM_047424503.1:c.*2230_*2231insTAC, XM_047424506.1:c.*2230_*2231insTAC, XM_047424486.1:c.*872_*873insTAC, XM_047424489.1:c.*872_*873insTAC, NM_001394518.1:c.*872_*873insTAC, NM_001083591.1:c.*872_*873insTAC, XM_047424492.1:c.*872_*873insTAC, XM_047424495.1:c.*872_*873insTAC, XM_047424485.1:c.*872_*873insTAC, XM_047424494.1:c.*872_*873insTAC, XM_047424491.1:c.*872_*873insTAC, XM_047424484.1:c.*872_*873insTAC, XM_047424482.1:c.*872_*873insTAC, XM_047424502.1:c.*872_*873insTAC, XM_047424483.1:c.*872_*873insTAC, XM_047424493.1:c.*872_*873insTAC, XM_047424499.1:c.*872_*873insTAC, XM_047424496.1:c.*872_*873insTAC, XM_047424490.1:c.*872_*873insTAC, XM_047424487.1:c.*872_*873insTAC, XM_047424498.1:c.*872_*873insTAC, XM_047424501.1:c.*872_*873insTAC, XM_047424505.1:c.*872_*873insTAC, XM_047424507.1:c.*872_*873insTAC, XM_047424504.1:c.*872_*873insTAC, XM_047424500.1:c.*872_*873insTAC, XM_047424509.1:c.*872_*873insTAC, XM_047424488.1:c.*872_*873insTAC, XM_047424510.1:c.*872_*873insTAC, NM_001326347.1:c.*872_*873insTAC

        4.

        rs1491257515 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TA>- [Show Flanks]
          Chromosome:
          10:11321519 (GRCh38)
          10:11363482 (GRCh37)
          Canonical SPDI:
          NC_000010.11:11321518:TA:
          Gene:
          CELF2 (Varview), CELF2-AS1 (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0./0 (ALFA)
          -=0.00002/2 (GnomAD)
          HGVS:

          5.

          rs1491179350 has merged into rs11351756 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
            Chromosome:
            10:11342353 (GRCh38)
            10:11384352 (GRCh37)
            Canonical SPDI:
            NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:11342340:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CELF2-AS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAAAA=0./0 (ALFA)
            -=0.000004/1 (TOPMED)
            -=0.457668/2292 (1000Genomes)
            HGVS:

            6.

            rs1491089573 has merged into rs548586033 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
              Chromosome:
              10:11331288 (GRCh38)
              10:11373251 (GRCh37)
              Canonical SPDI:
              NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:11331282:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
              Gene:
              CELF2 (Varview), CELF2-AS1 (Varview)
              Functional Consequence:
              intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAA=0./0 (ALFA)
              -=0.000008/2 (TOPMED)
              -=0.15/6 (GENOME_DK)
              HGVS:
              NC_000010.11:g.11331288_11331296del, NC_000010.11:g.11331289_11331296del, NC_000010.11:g.11331291_11331296del, NC_000010.11:g.11331292_11331296del, NC_000010.11:g.11331293_11331296del, NC_000010.11:g.11331294_11331296del, NC_000010.11:g.11331295_11331296del, NC_000010.11:g.11331296del, NC_000010.11:g.11331296dup, NC_000010.11:g.11331295_11331296dup, NC_000010.10:g.11373251_11373259del, NC_000010.10:g.11373252_11373259del, NC_000010.10:g.11373254_11373259del, NC_000010.10:g.11373255_11373259del, NC_000010.10:g.11373256_11373259del, NC_000010.10:g.11373257_11373259del, NC_000010.10:g.11373258_11373259del, NC_000010.10:g.11373259del, NC_000010.10:g.11373259dup, NC_000010.10:g.11373258_11373259dup, NM_006561.4:c.*877_*885del, NM_006561.4:c.*878_*885del, NM_006561.4:c.*880_*885del, NM_006561.4:c.*881_*885del, NM_006561.4:c.*882_*885del, NM_006561.4:c.*883_*885del, NM_006561.4:c.*884_*885del, NM_006561.4:c.*885del, NM_006561.4:c.*885dup, NM_006561.4:c.*884_*885dup, NM_006561.3:c.*877_*885del, NM_006561.3:c.*878_*885del, NM_006561.3:c.*880_*885del, NM_006561.3:c.*881_*885del, NM_006561.3:c.*882_*885del, NM_006561.3:c.*883_*885del, NM_006561.3:c.*884_*885del, NM_006561.3:c.*885del, NM_006561.3:c.*885dup, NM_006561.3:c.*884_*885dup, NM_001025077.3:c.*2235_*2243del, NM_001025077.3:c.*2236_*2243del, NM_001025077.3:c.*2238_*2243del, NM_001025077.3:c.*2239_*2243del, NM_001025077.3:c.*2240_*2243del, NM_001025077.3:c.*2241_*2243del, NM_001025077.3:c.*2242_*2243del, NM_001025077.3:c.*2243del, NM_001025077.3:c.*2243dup, NM_001025077.3:c.*2242_*2243dup, NM_001025077.2:c.*2235_*2243del, NM_001025077.2:c.*2236_*2243del, NM_001025077.2:c.*2238_*2243del, NM_001025077.2:c.*2239_*2243del, NM_001025077.2:c.*2240_*2243del, NM_001025077.2:c.*2241_*2243del, NM_001025077.2:c.*2242_*2243del, NM_001025077.2:c.*2243del, NM_001025077.2:c.*2243dup, NM_001025077.2:c.*2242_*2243dup, NM_001326330.2:c.*2235_*2243del, NM_001326330.2:c.*2236_*2243del, NM_001326330.2:c.*2238_*2243del, NM_001326330.2:c.*2239_*2243del, NM_001326330.2:c.*2240_*2243del, NM_001326330.2:c.*2241_*2243del, NM_001326330.2:c.*2242_*2243del, NM_001326330.2:c.*2243del, NM_001326330.2:c.*2243dup, NM_001326330.2:c.*2242_*2243dup, NM_001326330.1:c.*2235_*2243del, NM_001326330.1:c.*2236_*2243del, NM_001326330.1:c.*2238_*2243del, NM_001326330.1:c.*2239_*2243del, NM_001326330.1:c.*2240_*2243del, NM_001326330.1:c.*2241_*2243del, NM_001326330.1:c.*2242_*2243del, NM_001326330.1:c.*2243del, NM_001326330.1:c.*2243dup, NM_001326330.1:c.*2242_*2243dup, NM_001326343.2:c.*2235_*2243del, NM_001326343.2:c.*2236_*2243del, NM_001326343.2:c.*2238_*2243del, NM_001326343.2:c.*2239_*2243del, NM_001326343.2:c.*2240_*2243del, NM_001326343.2:c.*2241_*2243del, NM_001326343.2:c.*2242_*2243del, NM_001326343.2:c.*2243del, NM_001326343.2:c.*2243dup, NM_001326343.2:c.*2242_*2243dup, NM_001326343.1:c.*2235_*2243del, NM_001326343.1:c.*2236_*2243del, NM_001326343.1:c.*2238_*2243del, NM_001326343.1:c.*2239_*2243del, NM_001326343.1:c.*2240_*2243del, NM_001326343.1:c.*2241_*2243del, NM_001326343.1:c.*2242_*2243del, NM_001326343.1:c.*2243del, NM_001326343.1:c.*2243dup, NM_001326343.1:c.*2242_*2243dup, NM_001326329.2:c.*2235_*2243del, NM_001326329.2:c.*2236_*2243del, NM_001326329.2:c.*2238_*2243del, NM_001326329.2:c.*2239_*2243del, NM_001326329.2:c.*2240_*2243del, NM_001326329.2:c.*2241_*2243del, NM_001326329.2:c.*2242_*2243del, NM_001326329.2:c.*2243del, NM_001326329.2:c.*2243dup, NM_001326329.2:c.*2242_*2243dup, NM_001326329.1:c.*2235_*2243del, NM_001326329.1:c.*2236_*2243del, NM_001326329.1:c.*2238_*2243del, NM_001326329.1:c.*2239_*2243del, NM_001326329.1:c.*2240_*2243del, NM_001326329.1:c.*2241_*2243del, NM_001326329.1:c.*2242_*2243del, NM_001326329.1:c.*2243del, NM_001326329.1:c.*2243dup, NM_001326329.1:c.*2242_*2243dup, NM_001326340.2:c.*2235_*2243del, NM_001326340.2:c.*2236_*2243del, NM_001326340.2:c.*2238_*2243del, NM_001326340.2:c.*2239_*2243del, NM_001326340.2:c.*2240_*2243del, NM_001326340.2:c.*2241_*2243del, NM_001326340.2:c.*2242_*2243del, NM_001326340.2:c.*2243del, NM_001326340.2:c.*2243dup, NM_001326340.2:c.*2242_*2243dup, NM_001326340.1:c.*2235_*2243del, NM_001326340.1:c.*2236_*2243del, NM_001326340.1:c.*2238_*2243del, NM_001326340.1:c.*2239_*2243del, NM_001326340.1:c.*2240_*2243del, NM_001326340.1:c.*2241_*2243del, NM_001326340.1:c.*2242_*2243del, NM_001326340.1:c.*2243del, NM_001326340.1:c.*2243dup, NM_001326340.1:c.*2242_*2243dup, NM_001326334.2:c.*2235_*2243del, NM_001326334.2:c.*2236_*2243del, NM_001326334.2:c.*2238_*2243del, NM_001326334.2:c.*2239_*2243del, NM_001326334.2:c.*2240_*2243del, NM_001326334.2:c.*2241_*2243del, NM_001326334.2:c.*2242_*2243del, NM_001326334.2:c.*2243del, NM_001326334.2:c.*2243dup, NM_001326334.2:c.*2242_*2243dup, NM_001326334.1:c.*2235_*2243del, NM_001326334.1:c.*2236_*2243del, NM_001326334.1:c.*2238_*2243del, NM_001326334.1:c.*2239_*2243del, NM_001326334.1:c.*2240_*2243del, NM_001326334.1:c.*2241_*2243del, NM_001326334.1:c.*2242_*2243del, NM_001326334.1:c.*2243del, NM_001326334.1:c.*2243dup, NM_001326334.1:c.*2242_*2243dup, NM_001326342.2:c.*2235_*2243del, NM_001326342.2:c.*2236_*2243del, NM_001326342.2:c.*2238_*2243del, NM_001326342.2:c.*2239_*2243del, NM_001326342.2:c.*2240_*2243del, NM_001326342.2:c.*2241_*2243del, NM_001326342.2:c.*2242_*2243del, NM_001326342.2:c.*2243del, NM_001326342.2:c.*2243dup, NM_001326342.2:c.*2242_*2243dup, NM_001326342.1:c.*2235_*2243del, NM_001326342.1:c.*2236_*2243del, NM_001326342.1:c.*2238_*2243del, NM_001326342.1:c.*2239_*2243del, NM_001326342.1:c.*2240_*2243del, NM_001326342.1:c.*2241_*2243del, NM_001326342.1:c.*2242_*2243del, NM_001326342.1:c.*2243del, NM_001326342.1:c.*2243dup, NM_001326342.1:c.*2242_*2243dup, NM_001326349.2:c.*2235_*2243del, NM_001326349.2:c.*2236_*2243del, NM_001326349.2:c.*2238_*2243del, NM_001326349.2:c.*2239_*2243del, NM_001326349.2:c.*2240_*2243del, NM_001326349.2:c.*2241_*2243del, NM_001326349.2:c.*2242_*2243del, NM_001326349.2:c.*2243del, NM_001326349.2:c.*2243dup, NM_001326349.2:c.*2242_*2243dup, NM_001326349.1:c.*2235_*2243del, NM_001326349.1:c.*2236_*2243del, NM_001326349.1:c.*2238_*2243del, NM_001326349.1:c.*2239_*2243del, NM_001326349.1:c.*2240_*2243del, NM_001326349.1:c.*2241_*2243del, NM_001326349.1:c.*2242_*2243del, NM_001326349.1:c.*2243del, NM_001326349.1:c.*2243dup, NM_001326349.1:c.*2242_*2243dup, NM_001326319.2:c.*2235_*2243del, NM_001326319.2:c.*2236_*2243del, NM_001326319.2:c.*2238_*2243del, NM_001326319.2:c.*2239_*2243del, NM_001326319.2:c.*2240_*2243del, NM_001326319.2:c.*2241_*2243del, NM_001326319.2:c.*2242_*2243del, NM_001326319.2:c.*2243del, NM_001326319.2:c.*2243dup, NM_001326319.2:c.*2242_*2243dup, NM_001326319.1:c.*2235_*2243del, NM_001326319.1:c.*2236_*2243del, NM_001326319.1:c.*2238_*2243del, NM_001326319.1:c.*2239_*2243del, NM_001326319.1:c.*2240_*2243del, NM_001326319.1:c.*2241_*2243del, NM_001326319.1:c.*2242_*2243del, NM_001326319.1:c.*2243del, NM_001326319.1:c.*2243dup, NM_001326319.1:c.*2242_*2243dup, NM_001326336.2:c.*2235_*2243del, NM_001326336.2:c.*2236_*2243del, NM_001326336.2:c.*2238_*2243del, NM_001326336.2:c.*2239_*2243del, NM_001326336.2:c.*2240_*2243del, NM_001326336.2:c.*2241_*2243del, NM_001326336.2:c.*2242_*2243del, NM_001326336.2:c.*2243del, NM_001326336.2:c.*2243dup, NM_001326336.2:c.*2242_*2243dup, NM_001326336.1:c.*2235_*2243del, NM_001326336.1:c.*2236_*2243del, NM_001326336.1:c.*2238_*2243del, NM_001326336.1:c.*2239_*2243del, NM_001326336.1:c.*2240_*2243del, NM_001326336.1:c.*2241_*2243del, NM_001326336.1:c.*2242_*2243del, NM_001326336.1:c.*2243del, NM_001326336.1:c.*2243dup, NM_001326336.1:c.*2242_*2243dup, NM_001326339.2:c.*2235_*2243del, NM_001326339.2:c.*2236_*2243del, NM_001326339.2:c.*2238_*2243del, NM_001326339.2:c.*2239_*2243del, NM_001326339.2:c.*2240_*2243del, NM_001326339.2:c.*2241_*2243del, NM_001326339.2:c.*2242_*2243del, NM_001326339.2:c.*2243del, NM_001326339.2:c.*2243dup, NM_001326339.2:c.*2242_*2243dup, NM_001326339.1:c.*2235_*2243del, NM_001326339.1:c.*2236_*2243del, NM_001326339.1:c.*2238_*2243del, NM_001326339.1:c.*2239_*2243del, NM_001326339.1:c.*2240_*2243del, NM_001326339.1:c.*2241_*2243del, NM_001326339.1:c.*2242_*2243del, NM_001326339.1:c.*2243del, NM_001326339.1:c.*2243dup, NM_001326339.1:c.*2242_*2243dup, NM_001326338.2:c.*2235_*2243del, NM_001326338.2:c.*2236_*2243del, NM_001326338.2:c.*2238_*2243del, NM_001326338.2:c.*2239_*2243del, NM_001326338.2:c.*2240_*2243del, NM_001326338.2:c.*2241_*2243del, NM_001326338.2:c.*2242_*2243del, NM_001326338.2:c.*2243del, NM_001326338.2:c.*2243dup, NM_001326338.2:c.*2242_*2243dup, NM_001326338.1:c.*2235_*2243del, NM_001326338.1:c.*2236_*2243del, NM_001326338.1:c.*2238_*2243del, NM_001326338.1:c.*2239_*2243del, NM_001326338.1:c.*2240_*2243del, NM_001326338.1:c.*2241_*2243del, NM_001326338.1:c.*2242_*2243del, NM_001326338.1:c.*2243del, NM_001326338.1:c.*2243dup, NM_001326338.1:c.*2242_*2243dup, NM_001326321.2:c.*2235_*2243del, NM_001326321.2:c.*2236_*2243del, NM_001326321.2:c.*2238_*2243del, NM_001326321.2:c.*2239_*2243del, NM_001326321.2:c.*2240_*2243del, NM_001326321.2:c.*2241_*2243del, NM_001326321.2:c.*2242_*2243del, NM_001326321.2:c.*2243del, NM_001326321.2:c.*2243dup, NM_001326321.2:c.*2242_*2243dup, NM_001326321.1:c.*2235_*2243del, NM_001326321.1:c.*2236_*2243del, NM_001326321.1:c.*2238_*2243del, NM_001326321.1:c.*2239_*2243del, NM_001326321.1:c.*2240_*2243del, NM_001326321.1:c.*2241_*2243del, NM_001326321.1:c.*2242_*2243del, NM_001326321.1:c.*2243del, NM_001326321.1:c.*2243dup, NM_001326321.1:c.*2242_*2243dup, NM_001326318.2:c.*2235_*2243del, NM_001326318.2:c.*2236_*2243del, NM_001326318.2:c.*2238_*2243del, NM_001326318.2:c.*2239_*2243del, NM_001326318.2:c.*2240_*2243del, NM_001326318.2:c.*2241_*2243del, NM_001326318.2:c.*2242_*2243del, NM_001326318.2:c.*2243del, NM_001326318.2:c.*2243dup, NM_001326318.2:c.*2242_*2243dup, NM_001326318.1:c.*2235_*2243del, NM_001326318.1:c.*2236_*2243del, NM_001326318.1:c.*2238_*2243del, NM_001326318.1:c.*2239_*2243del, NM_001326318.1:c.*2240_*2243del, NM_001326318.1:c.*2241_*2243del, NM_001326318.1:c.*2242_*2243del, NM_001326318.1:c.*2243del, NM_001326318.1:c.*2243dup, NM_001326318.1:c.*2242_*2243dup, NM_001326317.2:c.*2235_*2243del, NM_001326317.2:c.*2236_*2243del, NM_001326317.2:c.*2238_*2243del, NM_001326317.2:c.*2239_*2243del, NM_001326317.2:c.*2240_*2243del, NM_001326317.2:c.*2241_*2243del, NM_001326317.2:c.*2242_*2243del, NM_001326317.2:c.*2243del, NM_001326317.2:c.*2243dup, NM_001326317.2:c.*2242_*2243dup, NM_001326317.1:c.*2235_*2243del, NM_001326317.1:c.*2236_*2243del, NM_001326317.1:c.*2238_*2243del, NM_001326317.1:c.*2239_*2243del, NM_001326317.1:c.*2240_*2243del, NM_001326317.1:c.*2241_*2243del, NM_001326317.1:c.*2242_*2243del, NM_001326317.1:c.*2243del, NM_001326317.1:c.*2243dup, NM_001326317.1:c.*2242_*2243dup, NM_001326333.2:c.*2235_*2243del, NM_001326333.2:c.*2236_*2243del, NM_001326333.2:c.*2238_*2243del, NM_001326333.2:c.*2239_*2243del, NM_001326333.2:c.*2240_*2243del, NM_001326333.2:c.*2241_*2243del, NM_001326333.2:c.*2242_*2243del, NM_001326333.2:c.*2243del, NM_001326333.2:c.*2243dup, NM_001326333.2:c.*2242_*2243dup, NM_001326333.1:c.*2235_*2243del, NM_001326333.1:c.*2236_*2243del, NM_001326333.1:c.*2238_*2243del, NM_001326333.1:c.*2239_*2243del, NM_001326333.1:c.*2240_*2243del, NM_001326333.1:c.*2241_*2243del, NM_001326333.1:c.*2242_*2243del, NM_001326333.1:c.*2243del, NM_001326333.1:c.*2243dup, NM_001326333.1:c.*2242_*2243dup, NM_001025076.2:c.*877_*885del, NM_001025076.2:c.*878_*885del, NM_001025076.2:c.*880_*885del, NM_001025076.2:c.*881_*885del, NM_001025076.2:c.*882_*885del, NM_001025076.2:c.*883_*885del, NM_001025076.2:c.*884_*885del, NM_001025076.2:c.*885del, NM_001025076.2:c.*885dup, NM_001025076.2:c.*884_*885dup, NM_001326341.2:c.*877_*885del, NM_001326341.2:c.*878_*885del, NM_001326341.2:c.*880_*885del, NM_001326341.2:c.*881_*885del, NM_001326341.2:c.*882_*885del, NM_001326341.2:c.*883_*885del, NM_001326341.2:c.*884_*885del, NM_001326341.2:c.*885del, NM_001326341.2:c.*885dup, NM_001326341.2:c.*884_*885dup, NM_001326341.1:c.*877_*885del, NM_001326341.1:c.*878_*885del, NM_001326341.1:c.*880_*885del, NM_001326341.1:c.*881_*885del, NM_001326341.1:c.*882_*885del, NM_001326341.1:c.*883_*885del, NM_001326341.1:c.*884_*885del, NM_001326341.1:c.*885del, NM_001326341.1:c.*885dup, NM_001326341.1:c.*884_*885dup, NM_001326323.2:c.*877_*885del, NM_001326323.2:c.*878_*885del, NM_001326323.2:c.*880_*885del, NM_001326323.2:c.*881_*885del, NM_001326323.2:c.*882_*885del, NM_001326323.2:c.*883_*885del, NM_001326323.2:c.*884_*885del, NM_001326323.2:c.*885del, NM_001326323.2:c.*885dup, NM_001326323.2:c.*884_*885dup, NM_001326323.1:c.*877_*885del, NM_001326323.1:c.*878_*885del, NM_001326323.1:c.*880_*885del, NM_001326323.1:c.*881_*885del, NM_001326323.1:c.*882_*885del, NM_001326323.1:c.*883_*885del, NM_001326323.1:c.*884_*885del, NM_001326323.1:c.*885del, NM_001326323.1:c.*885dup, NM_001326323.1:c.*884_*885dup, NM_001326328.2:c.*877_*885del, NM_001326328.2:c.*878_*885del, NM_001326328.2:c.*880_*885del, NM_001326328.2:c.*881_*885del, NM_001326328.2:c.*882_*885del, NM_001326328.2:c.*883_*885del, NM_001326328.2:c.*884_*885del, NM_001326328.2:c.*885del, NM_001326328.2:c.*885dup, NM_001326328.2:c.*884_*885dup, NM_001326328.1:c.*877_*885del, NM_001326328.1:c.*878_*885del, NM_001326328.1:c.*880_*885del, NM_001326328.1:c.*881_*885del, NM_001326328.1:c.*882_*885del, NM_001326328.1:c.*883_*885del, NM_001326328.1:c.*884_*885del, NM_001326328.1:c.*885del, NM_001326328.1:c.*885dup, NM_001326328.1:c.*884_*885dup, NM_001326320.2:c.*877_*885del, NM_001326320.2:c.*878_*885del, NM_001326320.2:c.*880_*885del, NM_001326320.2:c.*881_*885del, NM_001326320.2:c.*882_*885del, NM_001326320.2:c.*883_*885del, NM_001326320.2:c.*884_*885del, NM_001326320.2:c.*885del, NM_001326320.2:c.*885dup, NM_001326320.2:c.*884_*885dup, NM_001326320.1:c.*877_*885del, NM_001326320.1:c.*878_*885del, NM_001326320.1:c.*880_*885del, NM_001326320.1:c.*881_*885del, NM_001326320.1:c.*882_*885del, NM_001326320.1:c.*883_*885del, NM_001326320.1:c.*884_*885del, NM_001326320.1:c.*885del, NM_001326320.1:c.*885dup, NM_001326320.1:c.*884_*885dup, NM_001326348.2:c.*877_*885del, NM_001326348.2:c.*878_*885del, NM_001326348.2:c.*880_*885del, NM_001326348.2:c.*881_*885del, NM_001326348.2:c.*882_*885del, NM_001326348.2:c.*883_*885del, NM_001326348.2:c.*884_*885del, NM_001326348.2:c.*885del, NM_001326348.2:c.*885dup, NM_001326348.2:c.*884_*885dup, NM_001326348.1:c.*877_*885del, NM_001326348.1:c.*878_*885del, NM_001326348.1:c.*880_*885del, NM_001326348.1:c.*881_*885del, NM_001326348.1:c.*882_*885del, NM_001326348.1:c.*883_*885del, NM_001326348.1:c.*884_*885del, NM_001326348.1:c.*885del, NM_001326348.1:c.*885dup, NM_001326348.1:c.*884_*885dup, NM_001326325.2:c.*877_*885del, NM_001326325.2:c.*878_*885del, NM_001326325.2:c.*880_*885del, NM_001326325.2:c.*881_*885del, NM_001326325.2:c.*882_*885del, NM_001326325.2:c.*883_*885del, NM_001326325.2:c.*884_*885del, NM_001326325.2:c.*885del, NM_001326325.2:c.*885dup, NM_001326325.2:c.*884_*885dup, NM_001326325.1:c.*877_*885del, NM_001326325.1:c.*878_*885del, NM_001326325.1:c.*880_*885del, NM_001326325.1:c.*881_*885del, NM_001326325.1:c.*882_*885del, NM_001326325.1:c.*883_*885del, NM_001326325.1:c.*884_*885del, NM_001326325.1:c.*885del, NM_001326325.1:c.*885dup, NM_001326325.1:c.*884_*885dup, XM_024447776.2:c.*877_*885del, XM_024447776.2:c.*878_*885del, XM_024447776.2:c.*880_*885del, XM_024447776.2:c.*881_*885del, XM_024447776.2:c.*882_*885del, XM_024447776.2:c.*883_*885del, XM_024447776.2:c.*884_*885del, XM_024447776.2:c.*885del, XM_024447776.2:c.*885dup, XM_024447776.2:c.*884_*885dup, XM_024447776.1:c.*877_*885del, XM_024447776.1:c.*878_*885del, XM_024447776.1:c.*880_*885del, XM_024447776.1:c.*881_*885del, XM_024447776.1:c.*882_*885del, XM_024447776.1:c.*883_*885del, XM_024447776.1:c.*884_*885del, XM_024447776.1:c.*885del, XM_024447776.1:c.*885dup, XM_024447776.1:c.*884_*885dup, NM_001326331.2:c.*877_*885del, NM_001326331.2:c.*878_*885del, NM_001326331.2:c.*880_*885del, NM_001326331.2:c.*881_*885del, NM_001326331.2:c.*882_*885del, NM_001326331.2:c.*883_*885del, NM_001326331.2:c.*884_*885del, NM_001326331.2:c.*885del, NM_001326331.2:c.*885dup, NM_001326331.2:c.*884_*885dup, NM_001326331.1:c.*877_*885del, NM_001326331.1:c.*878_*885del, NM_001326331.1:c.*880_*885del, NM_001326331.1:c.*881_*885del, NM_001326331.1:c.*882_*885del, NM_001326331.1:c.*883_*885del, NM_001326331.1:c.*884_*885del, NM_001326331.1:c.*885del, NM_001326331.1:c.*885dup, NM_001326331.1:c.*884_*885dup, NM_001326327.2:c.*877_*885del, NM_001326327.2:c.*878_*885del, NM_001326327.2:c.*880_*885del, NM_001326327.2:c.*881_*885del, NM_001326327.2:c.*882_*885del, NM_001326327.2:c.*883_*885del, NM_001326327.2:c.*884_*885del, NM_001326327.2:c.*885del, NM_001326327.2:c.*885dup, NM_001326327.2:c.*884_*885dup, NM_001326327.1:c.*877_*885del, NM_001326327.1:c.*878_*885del, NM_001326327.1:c.*880_*885del, NM_001326327.1:c.*881_*885del, NM_001326327.1:c.*882_*885del, NM_001326327.1:c.*883_*885del, NM_001326327.1:c.*884_*885del, NM_001326327.1:c.*885del, NM_001326327.1:c.*885dup, NM_001326327.1:c.*884_*885dup, NM_001326335.2:c.*877_*885del, NM_001326335.2:c.*878_*885del, NM_001326335.2:c.*880_*885del, NM_001326335.2:c.*881_*885del, NM_001326335.2:c.*882_*885del, NM_001326335.2:c.*883_*885del, NM_001326335.2:c.*884_*885del, NM_001326335.2:c.*885del, NM_001326335.2:c.*885dup, NM_001326335.2:c.*884_*885dup, NM_001326335.1:c.*877_*885del, NM_001326335.1:c.*878_*885del, NM_001326335.1:c.*880_*885del, NM_001326335.1:c.*881_*885del, NM_001326335.1:c.*882_*885del, NM_001326335.1:c.*883_*885del, NM_001326335.1:c.*884_*885del, NM_001326335.1:c.*885del, NM_001326335.1:c.*885dup, NM_001326335.1:c.*884_*885dup, NM_001326332.2:c.*877_*885del, NM_001326332.2:c.*878_*885del, NM_001326332.2:c.*880_*885del, NM_001326332.2:c.*881_*885del, NM_001326332.2:c.*882_*885del, NM_001326332.2:c.*883_*885del, NM_001326332.2:c.*884_*885del, NM_001326332.2:c.*885del, NM_001326332.2:c.*885dup, NM_001326332.2:c.*884_*885dup, NM_001326332.1:c.*877_*885del, NM_001326332.1:c.*878_*885del, NM_001326332.1:c.*880_*885del, NM_001326332.1:c.*881_*885del, NM_001326332.1:c.*882_*885del, NM_001326332.1:c.*883_*885del, NM_001326332.1:c.*884_*885del, NM_001326332.1:c.*885del, NM_001326332.1:c.*885dup, NM_001326332.1:c.*884_*885dup, NM_001326326.2:c.*877_*885del, NM_001326326.2:c.*878_*885del, NM_001326326.2:c.*880_*885del, NM_001326326.2:c.*881_*885del, NM_001326326.2:c.*882_*885del, NM_001326326.2:c.*883_*885del, NM_001326326.2:c.*884_*885del, NM_001326326.2:c.*885del, NM_001326326.2:c.*885dup, NM_001326326.2:c.*884_*885dup, NM_001326326.1:c.*877_*885del, NM_001326326.1:c.*878_*885del, NM_001326326.1:c.*880_*885del, NM_001326326.1:c.*881_*885del, NM_001326326.1:c.*882_*885del, NM_001326326.1:c.*883_*885del, NM_001326326.1:c.*884_*885del, NM_001326326.1:c.*885del, NM_001326326.1:c.*885dup, NM_001326326.1:c.*884_*885dup, NM_001326345.2:c.*877_*885del, NM_001326345.2:c.*878_*885del, NM_001326345.2:c.*880_*885del, NM_001326345.2:c.*881_*885del, NM_001326345.2:c.*882_*885del, NM_001326345.2:c.*883_*885del, NM_001326345.2:c.*884_*885del, NM_001326345.2:c.*885del, NM_001326345.2:c.*885dup, NM_001326345.2:c.*884_*885dup, NM_001326345.1:c.*877_*885del, NM_001326345.1:c.*878_*885del, NM_001326345.1:c.*880_*885del, NM_001326345.1:c.*881_*885del, NM_001326345.1:c.*882_*885del, NM_001326345.1:c.*883_*885del, NM_001326345.1:c.*884_*885del, NM_001326345.1:c.*885del, NM_001326345.1:c.*885dup, NM_001326345.1:c.*884_*885dup, NM_001326324.2:c.*877_*885del, NM_001326324.2:c.*878_*885del, NM_001326324.2:c.*880_*885del, NM_001326324.2:c.*881_*885del, NM_001326324.2:c.*882_*885del, NM_001326324.2:c.*883_*885del, NM_001326324.2:c.*884_*885del, NM_001326324.2:c.*885del, NM_001326324.2:c.*885dup, NM_001326324.2:c.*884_*885dup, NM_001326324.1:c.*877_*885del, NM_001326324.1:c.*878_*885del, NM_001326324.1:c.*880_*885del, NM_001326324.1:c.*881_*885del, NM_001326324.1:c.*882_*885del, NM_001326324.1:c.*883_*885del, NM_001326324.1:c.*884_*885del, NM_001326324.1:c.*885del, NM_001326324.1:c.*885dup, NM_001326324.1:c.*884_*885dup, NM_001326346.2:c.*877_*885del, NM_001326346.2:c.*878_*885del, NM_001326346.2:c.*880_*885del, NM_001326346.2:c.*881_*885del, NM_001326346.2:c.*882_*885del, NM_001326346.2:c.*883_*885del, NM_001326346.2:c.*884_*885del, NM_001326346.2:c.*885del, NM_001326346.2:c.*885dup, NM_001326346.2:c.*884_*885dup, NM_001326346.1:c.*877_*885del, NM_001326346.1:c.*878_*885del, NM_001326346.1:c.*880_*885del, NM_001326346.1:c.*881_*885del, NM_001326346.1:c.*882_*885del, NM_001326346.1:c.*883_*885del, NM_001326346.1:c.*884_*885del, NM_001326346.1:c.*885del, NM_001326346.1:c.*885dup, NM_001326346.1:c.*884_*885dup, NM_001326344.2:c.*877_*885del, NM_001326344.2:c.*878_*885del, NM_001326344.2:c.*880_*885del, NM_001326344.2:c.*881_*885del, NM_001326344.2:c.*882_*885del, NM_001326344.2:c.*883_*885del, NM_001326344.2:c.*884_*885del, NM_001326344.2:c.*885del, NM_001326344.2:c.*885dup, NM_001326344.2:c.*884_*885dup, NM_001326344.1:c.*877_*885del, NM_001326344.1:c.*878_*885del, NM_001326344.1:c.*880_*885del, NM_001326344.1:c.*881_*885del, NM_001326344.1:c.*882_*885del, NM_001326344.1:c.*883_*885del, NM_001326344.1:c.*884_*885del, NM_001326344.1:c.*885del, NM_001326344.1:c.*885dup, NM_001326344.1:c.*884_*885dup, NM_001326337.2:c.*877_*885del, NM_001326337.2:c.*878_*885del, NM_001326337.2:c.*880_*885del, NM_001326337.2:c.*881_*885del, NM_001326337.2:c.*882_*885del, NM_001326337.2:c.*883_*885del, NM_001326337.2:c.*884_*885del, NM_001326337.2:c.*885del, NM_001326337.2:c.*885dup, NM_001326337.2:c.*884_*885dup, NM_001326337.1:c.*877_*885del, NM_001326337.1:c.*878_*885del, NM_001326337.1:c.*880_*885del, NM_001326337.1:c.*881_*885del, NM_001326337.1:c.*882_*885del, NM_001326337.1:c.*883_*885del, NM_001326337.1:c.*884_*885del, NM_001326337.1:c.*885del, NM_001326337.1:c.*885dup, NM_001326337.1:c.*884_*885dup, NM_001394519.1:c.*2235_*2243del, NM_001394519.1:c.*2236_*2243del, NM_001394519.1:c.*2238_*2243del, NM_001394519.1:c.*2239_*2243del, NM_001394519.1:c.*2240_*2243del, NM_001394519.1:c.*2241_*2243del, NM_001394519.1:c.*2242_*2243del, NM_001394519.1:c.*2243del, NM_001394519.1:c.*2243dup, NM_001394519.1:c.*2242_*2243dup, NM_001394513.1:c.*2235_*2243del, NM_001394513.1:c.*2236_*2243del, NM_001394513.1:c.*2238_*2243del, NM_001394513.1:c.*2239_*2243del, NM_001394513.1:c.*2240_*2243del, NM_001394513.1:c.*2241_*2243del, NM_001394513.1:c.*2242_*2243del, NM_001394513.1:c.*2243del, NM_001394513.1:c.*2243dup, NM_001394513.1:c.*2242_*2243dup, NM_001394517.1:c.*2235_*2243del, NM_001394517.1:c.*2236_*2243del, NM_001394517.1:c.*2238_*2243del, NM_001394517.1:c.*2239_*2243del, NM_001394517.1:c.*2240_*2243del, NM_001394517.1:c.*2241_*2243del, NM_001394517.1:c.*2242_*2243del, NM_001394517.1:c.*2243del, NM_001394517.1:c.*2243dup, NM_001394517.1:c.*2242_*2243dup, NM_001394502.1:c.*2235_*2243del, NM_001394502.1:c.*2236_*2243del, NM_001394502.1:c.*2238_*2243del, NM_001394502.1:c.*2239_*2243del, NM_001394502.1:c.*2240_*2243del, NM_001394502.1:c.*2241_*2243del, NM_001394502.1:c.*2242_*2243del, NM_001394502.1:c.*2243del, NM_001394502.1:c.*2243dup, NM_001394502.1:c.*2242_*2243dup, XM_047424503.1:c.*2235_*2243del, XM_047424503.1:c.*2236_*2243del, XM_047424503.1:c.*2238_*2243del, XM_047424503.1:c.*2239_*2243del, XM_047424503.1:c.*2240_*2243del, XM_047424503.1:c.*2241_*2243del, XM_047424503.1:c.*2242_*2243del, XM_047424503.1:c.*2243del, XM_047424503.1:c.*2243dup, XM_047424503.1:c.*2242_*2243dup, XM_047424506.1:c.*2235_*2243del, XM_047424506.1:c.*2236_*2243del, XM_047424506.1:c.*2238_*2243del, XM_047424506.1:c.*2239_*2243del, XM_047424506.1:c.*2240_*2243del, XM_047424506.1:c.*2241_*2243del, XM_047424506.1:c.*2242_*2243del, XM_047424506.1:c.*2243del, XM_047424506.1:c.*2243dup, XM_047424506.1:c.*2242_*2243dup, XM_047424486.1:c.*877_*885del, XM_047424486.1:c.*878_*885del, XM_047424486.1:c.*880_*885del, XM_047424486.1:c.*881_*885del, XM_047424486.1:c.*882_*885del, XM_047424486.1:c.*883_*885del, XM_047424486.1:c.*884_*885del, XM_047424486.1:c.*885del, XM_047424486.1:c.*885dup, XM_047424486.1:c.*884_*885dup, XM_047424489.1:c.*877_*885del, XM_047424489.1:c.*878_*885del, XM_047424489.1:c.*880_*885del, XM_047424489.1:c.*881_*885del, XM_047424489.1:c.*882_*885del, XM_047424489.1:c.*883_*885del, XM_047424489.1:c.*884_*885del, XM_047424489.1:c.*885del, XM_047424489.1:c.*885dup, XM_047424489.1:c.*884_*885dup, NM_001394518.1:c.*877_*885del, NM_001394518.1:c.*878_*885del, NM_001394518.1:c.*880_*885del, NM_001394518.1:c.*881_*885del, NM_001394518.1:c.*882_*885del, NM_001394518.1:c.*883_*885del, NM_001394518.1:c.*884_*885del, NM_001394518.1:c.*885del, NM_001394518.1:c.*885dup, NM_001394518.1:c.*884_*885dup, NM_001083591.1:c.*877_*885del, NM_001083591.1:c.*878_*885del, NM_001083591.1:c.*880_*885del, NM_001083591.1:c.*881_*885del, NM_001083591.1:c.*882_*885del, NM_001083591.1:c.*883_*885del, NM_001083591.1:c.*884_*885del, NM_001083591.1:c.*885del, NM_001083591.1:c.*885dup, NM_001083591.1:c.*884_*885dup, XM_047424492.1:c.*877_*885del, XM_047424492.1:c.*878_*885del, XM_047424492.1:c.*880_*885del, XM_047424492.1:c.*881_*885del, XM_047424492.1:c.*882_*885del, XM_047424492.1:c.*883_*885del, XM_047424492.1:c.*884_*885del, XM_047424492.1:c.*885del, XM_047424492.1:c.*885dup, XM_047424492.1:c.*884_*885dup, XM_047424495.1:c.*877_*885del, XM_047424495.1:c.*878_*885del, XM_047424495.1:c.*880_*885del, XM_047424495.1:c.*881_*885del, XM_047424495.1:c.*882_*885del, XM_047424495.1:c.*883_*885del, XM_047424495.1:c.*884_*885del, XM_047424495.1:c.*885del, XM_047424495.1:c.*885dup, XM_047424495.1:c.*884_*885dup, XM_047424485.1:c.*877_*885del, XM_047424485.1:c.*878_*885del, XM_047424485.1:c.*880_*885del, XM_047424485.1:c.*881_*885del, XM_047424485.1:c.*882_*885del, XM_047424485.1:c.*883_*885del, XM_047424485.1:c.*884_*885del, XM_047424485.1:c.*885del, XM_047424485.1:c.*885dup, XM_047424485.1:c.*884_*885dup, XM_047424494.1:c.*877_*885del, XM_047424494.1:c.*878_*885del, XM_047424494.1:c.*880_*885del, XM_047424494.1:c.*881_*885del, XM_047424494.1:c.*882_*885del, XM_047424494.1:c.*883_*885del, XM_047424494.1:c.*884_*885del, XM_047424494.1:c.*885del, XM_047424494.1:c.*885dup, XM_047424494.1:c.*884_*885dup, XM_047424491.1:c.*877_*885del, XM_047424491.1:c.*878_*885del, XM_047424491.1:c.*880_*885del, XM_047424491.1:c.*881_*885del, XM_047424491.1:c.*882_*885del, XM_047424491.1:c.*883_*885del, XM_047424491.1:c.*884_*885del, XM_047424491.1:c.*885del, XM_047424491.1:c.*885dup, XM_047424491.1:c.*884_*885dup, XM_047424484.1:c.*877_*885del, XM_047424484.1:c.*878_*885del, XM_047424484.1:c.*880_*885del, XM_047424484.1:c.*881_*885del, XM_047424484.1:c.*882_*885del, XM_047424484.1:c.*883_*885del, XM_047424484.1:c.*884_*885del, XM_047424484.1:c.*885del, XM_047424484.1:c.*885dup, XM_047424484.1:c.*884_*885dup, XM_047424482.1:c.*877_*885del, XM_047424482.1:c.*878_*885del, XM_047424482.1:c.*880_*885del, XM_047424482.1:c.*881_*885del, XM_047424482.1:c.*882_*885del, XM_047424482.1:c.*883_*885del, XM_047424482.1:c.*884_*885del, XM_047424482.1:c.*885del, XM_047424482.1:c.*885dup, XM_047424482.1:c.*884_*885dup, XM_047424502.1:c.*877_*885del, XM_047424502.1:c.*878_*885del, XM_047424502.1:c.*880_*885del, XM_047424502.1:c.*881_*885del, XM_047424502.1:c.*882_*885del, XM_047424502.1:c.*883_*885del, XM_047424502.1:c.*884_*885del, XM_047424502.1:c.*885del, XM_047424502.1:c.*885dup, XM_047424502.1:c.*884_*885dup, XM_047424483.1:c.*877_*885del, XM_047424483.1:c.*878_*885del, XM_047424483.1:c.*880_*885del, XM_047424483.1:c.*881_*885del, XM_047424483.1:c.*882_*885del, XM_047424483.1:c.*883_*885del, XM_047424483.1:c.*884_*885del, XM_047424483.1:c.*885del, XM_047424483.1:c.*885dup, XM_047424483.1:c.*884_*885dup, XM_047424493.1:c.*877_*885del, XM_047424493.1:c.*878_*885del, XM_047424493.1:c.*880_*885del, XM_047424493.1:c.*881_*885del, XM_047424493.1:c.*882_*885del, XM_047424493.1:c.*883_*885del, XM_047424493.1:c.*884_*885del, XM_047424493.1:c.*885del, XM_047424493.1:c.*885dup, XM_047424493.1:c.*884_*885dup, XM_047424499.1:c.*877_*885del, XM_047424499.1:c.*878_*885del, XM_047424499.1:c.*880_*885del, XM_047424499.1:c.*881_*885del, XM_047424499.1:c.*882_*885del, XM_047424499.1:c.*883_*885del, XM_047424499.1:c.*884_*885del, XM_047424499.1:c.*885del, XM_047424499.1:c.*885dup, XM_047424499.1:c.*884_*885dup, XM_047424496.1:c.*877_*885del, XM_047424496.1:c.*878_*885del, XM_047424496.1:c.*880_*885del, XM_047424496.1:c.*881_*885del, XM_047424496.1:c.*882_*885del, XM_047424496.1:c.*883_*885del, XM_047424496.1:c.*884_*885del, XM_047424496.1:c.*885del, XM_047424496.1:c.*885dup, XM_047424496.1:c.*884_*885dup, XM_047424490.1:c.*877_*885del, XM_047424490.1:c.*878_*885del, XM_047424490.1:c.*880_*885del, XM_047424490.1:c.*881_*885del, XM_047424490.1:c.*882_*885del, XM_047424490.1:c.*883_*885del, XM_047424490.1:c.*884_*885del, XM_047424490.1:c.*885del, XM_047424490.1:c.*885dup, XM_047424490.1:c.*884_*885dup, XM_047424487.1:c.*877_*885del, XM_047424487.1:c.*878_*885del, XM_047424487.1:c.*880_*885del, XM_047424487.1:c.*881_*885del, XM_047424487.1:c.*882_*885del, XM_047424487.1:c.*883_*885del, XM_047424487.1:c.*884_*885del, XM_047424487.1:c.*885del, XM_047424487.1:c.*885dup, XM_047424487.1:c.*884_*885dup, XM_047424498.1:c.*877_*885del, XM_047424498.1:c.*878_*885del, XM_047424498.1:c.*880_*885del, XM_047424498.1:c.*881_*885del, XM_047424498.1:c.*882_*885del, XM_047424498.1:c.*883_*885del, XM_047424498.1:c.*884_*885del, XM_047424498.1:c.*885del, XM_047424498.1:c.*885dup, XM_047424498.1:c.*884_*885dup, XM_047424501.1:c.*877_*885del, XM_047424501.1:c.*878_*885del, XM_047424501.1:c.*880_*885del, XM_047424501.1:c.*881_*885del, XM_047424501.1:c.*882_*885del, XM_047424501.1:c.*883_*885del, XM_047424501.1:c.*884_*885del, XM_047424501.1:c.*885del, XM_047424501.1:c.*885dup, XM_047424501.1:c.*884_*885dup, XM_047424505.1:c.*877_*885del, XM_047424505.1:c.*878_*885del, XM_047424505.1:c.*880_*885del, XM_047424505.1:c.*881_*885del, XM_047424505.1:c.*882_*885del, XM_047424505.1:c.*883_*885del, XM_047424505.1:c.*884_*885del, XM_047424505.1:c.*885del, XM_047424505.1:c.*885dup, XM_047424505.1:c.*884_*885dup, XM_047424507.1:c.*877_*885del, XM_047424507.1:c.*878_*885del, XM_047424507.1:c.*880_*885del, XM_047424507.1:c.*881_*885del, XM_047424507.1:c.*882_*885del, XM_047424507.1:c.*883_*885del, XM_047424507.1:c.*884_*885del, XM_047424507.1:c.*885del, XM_047424507.1:c.*885dup, XM_047424507.1:c.*884_*885dup, XM_047424504.1:c.*877_*885del, XM_047424504.1:c.*878_*885del, XM_047424504.1:c.*880_*885del, XM_047424504.1:c.*881_*885del, XM_047424504.1:c.*882_*885del, XM_047424504.1:c.*883_*885del, XM_047424504.1:c.*884_*885del, XM_047424504.1:c.*885del, XM_047424504.1:c.*885dup, XM_047424504.1:c.*884_*885dup, XM_047424500.1:c.*877_*885del, XM_047424500.1:c.*878_*885del, XM_047424500.1:c.*880_*885del, XM_047424500.1:c.*881_*885del, XM_047424500.1:c.*882_*885del, XM_047424500.1:c.*883_*885del, XM_047424500.1:c.*884_*885del, XM_047424500.1:c.*885del, XM_047424500.1:c.*885dup, XM_047424500.1:c.*884_*885dup, XM_047424509.1:c.*877_*885del, XM_047424509.1:c.*878_*885del, XM_047424509.1:c.*880_*885del, XM_047424509.1:c.*881_*885del, XM_047424509.1:c.*882_*885del, XM_047424509.1:c.*883_*885del, XM_047424509.1:c.*884_*885del, XM_047424509.1:c.*885del, XM_047424509.1:c.*885dup, XM_047424509.1:c.*884_*885dup, XM_047424488.1:c.*877_*885del, XM_047424488.1:c.*878_*885del, XM_047424488.1:c.*880_*885del, XM_047424488.1:c.*881_*885del, XM_047424488.1:c.*882_*885del, XM_047424488.1:c.*883_*885del, XM_047424488.1:c.*884_*885del, XM_047424488.1:c.*885del, XM_047424488.1:c.*885dup, XM_047424488.1:c.*884_*885dup, XM_047424510.1:c.*877_*885del, XM_047424510.1:c.*878_*885del, XM_047424510.1:c.*880_*885del, XM_047424510.1:c.*881_*885del, XM_047424510.1:c.*882_*885del, XM_047424510.1:c.*883_*885del, XM_047424510.1:c.*884_*885del, XM_047424510.1:c.*885del, XM_047424510.1:c.*885dup, XM_047424510.1:c.*884_*885dup, NM_001326347.1:c.*877_*885del, NM_001326347.1:c.*878_*885del, NM_001326347.1:c.*880_*885del, NM_001326347.1:c.*881_*885del, NM_001326347.1:c.*882_*885del, NM_001326347.1:c.*883_*885del, NM_001326347.1:c.*884_*885del, NM_001326347.1:c.*885del, NM_001326347.1:c.*885dup, NM_001326347.1:c.*884_*885dup

              7.

              rs1491038202 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>-,GTGT [Show Flanks]
                Chromosome:
                10:11331457 (GRCh38)
                10:11373420 (GRCh37)
                Canonical SPDI:
                NC_000010.11:11331455:TGT:T,NC_000010.11:11331455:TGT:TGTGT
                Gene:
                CELF2 (Varview), CELF2-AS1 (Varview)
                Functional Consequence:
                3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TGTGT=0./0 (ALFA)
                -=0.000022/3 (GnomAD)
                -=0.000035/1 (TOMMO)
                HGVS:
                NC_000010.11:g.11331457_11331458del, NC_000010.11:g.11331457_11331458dup, NC_000010.10:g.11373420_11373421del, NC_000010.10:g.11373420_11373421dup, NM_006561.4:c.*1046_*1047del, NM_006561.4:c.*1046_*1047dup, NM_001025077.3:c.*2404_*2405del, NM_001025077.3:c.*2404_*2405dup, NM_001025077.2:c.*2406_*2407del, NM_001025077.2:c.*2406_*2407dup, NM_001326330.2:c.*2404_*2405del, NM_001326330.2:c.*2404_*2405dup, NM_001326343.2:c.*2404_*2405del, NM_001326343.2:c.*2404_*2405dup, NM_001326329.2:c.*2404_*2405del, NM_001326329.2:c.*2404_*2405dup, NM_001326340.2:c.*2404_*2405del, NM_001326340.2:c.*2404_*2405dup, NM_001326334.2:c.*2404_*2405del, NM_001326334.2:c.*2404_*2405dup, NM_001326342.2:c.*2404_*2405del, NM_001326342.2:c.*2404_*2405dup, NM_001326349.2:c.*2404_*2405del, NM_001326349.2:c.*2404_*2405dup, NM_001326319.2:c.*2404_*2405del, NM_001326319.2:c.*2404_*2405dup, NM_001326336.2:c.*2404_*2405del, NM_001326336.2:c.*2404_*2405dup, NM_001326339.2:c.*2404_*2405del, NM_001326339.2:c.*2404_*2405dup, NM_001326338.2:c.*2404_*2405del, NM_001326338.2:c.*2404_*2405dup, NM_001326321.2:c.*2404_*2405del, NM_001326321.2:c.*2404_*2405dup, NM_001326318.2:c.*2404_*2405del, NM_001326318.2:c.*2404_*2405dup, NM_001326317.2:c.*2404_*2405del, NM_001326317.2:c.*2404_*2405dup, NM_001326333.2:c.*2404_*2405del, NM_001326333.2:c.*2404_*2405dup, NM_001326341.2:c.*1046_*1047del, NM_001326341.2:c.*1046_*1047dup, NM_001326323.2:c.*1046_*1047del, NM_001326323.2:c.*1046_*1047dup, NM_001326328.2:c.*1046_*1047del, NM_001326328.2:c.*1046_*1047dup, NM_001326320.2:c.*1046_*1047del, NM_001326320.2:c.*1046_*1047dup, NM_001326348.2:c.*1046_*1047del, NM_001326348.2:c.*1046_*1047dup, NM_001326325.2:c.*1046_*1047del, NM_001326325.2:c.*1046_*1047dup, XM_024447776.2:c.*1046_*1047del, XM_024447776.2:c.*1046_*1047dup, XM_024447776.1:c.*1046_*1047del, XM_024447776.1:c.*1046_*1047dup, NM_001326331.2:c.*1046_*1047del, NM_001326331.2:c.*1046_*1047dup, NM_001326327.2:c.*1046_*1047del, NM_001326327.2:c.*1046_*1047dup, NM_001326335.2:c.*1046_*1047del, NM_001326335.2:c.*1046_*1047dup, NM_001326332.2:c.*1046_*1047del, NM_001326332.2:c.*1046_*1047dup, NM_001326326.2:c.*1046_*1047del, NM_001326326.2:c.*1046_*1047dup, NM_001326345.2:c.*1046_*1047del, NM_001326345.2:c.*1046_*1047dup, NM_001326324.2:c.*1046_*1047del, NM_001326324.2:c.*1046_*1047dup, NM_001326346.2:c.*1046_*1047del, NM_001326346.2:c.*1046_*1047dup, NM_001326344.2:c.*1046_*1047del, NM_001326344.2:c.*1046_*1047dup, NM_001326337.2:c.*1046_*1047del, NM_001326337.2:c.*1046_*1047dup, NM_001394519.1:c.*2404_*2405del, NM_001394519.1:c.*2404_*2405dup, NM_001394513.1:c.*2404_*2405del, NM_001394513.1:c.*2404_*2405dup, NM_001394517.1:c.*2404_*2405del, NM_001394517.1:c.*2404_*2405dup, NM_001394502.1:c.*2404_*2405del, NM_001394502.1:c.*2404_*2405dup, XM_047424503.1:c.*2404_*2405del, XM_047424503.1:c.*2404_*2405dup, XM_047424506.1:c.*2404_*2405del, XM_047424506.1:c.*2404_*2405dup, XM_047424486.1:c.*1046_*1047del, XM_047424486.1:c.*1046_*1047dup, XM_047424489.1:c.*1046_*1047del, XM_047424489.1:c.*1046_*1047dup, NM_001394518.1:c.*1046_*1047del, NM_001394518.1:c.*1046_*1047dup, XM_047424492.1:c.*1046_*1047del, XM_047424492.1:c.*1046_*1047dup, XM_047424495.1:c.*1046_*1047del, XM_047424495.1:c.*1046_*1047dup, XM_047424485.1:c.*1046_*1047del, XM_047424485.1:c.*1046_*1047dup, XM_047424494.1:c.*1046_*1047del, XM_047424494.1:c.*1046_*1047dup, XM_047424491.1:c.*1046_*1047del, XM_047424491.1:c.*1046_*1047dup, XM_047424484.1:c.*1046_*1047del, XM_047424484.1:c.*1046_*1047dup, XM_047424482.1:c.*1046_*1047del, XM_047424482.1:c.*1046_*1047dup, XM_047424502.1:c.*1046_*1047del, XM_047424502.1:c.*1046_*1047dup, XM_047424483.1:c.*1046_*1047del, XM_047424483.1:c.*1046_*1047dup, XM_047424493.1:c.*1046_*1047del, XM_047424493.1:c.*1046_*1047dup, XM_047424499.1:c.*1046_*1047del, XM_047424499.1:c.*1046_*1047dup, XM_047424496.1:c.*1046_*1047del, XM_047424496.1:c.*1046_*1047dup, XM_047424490.1:c.*1046_*1047del, XM_047424490.1:c.*1046_*1047dup, XM_047424487.1:c.*1046_*1047del, XM_047424487.1:c.*1046_*1047dup, XM_047424498.1:c.*1046_*1047del, XM_047424498.1:c.*1046_*1047dup, XM_047424501.1:c.*1046_*1047del, XM_047424501.1:c.*1046_*1047dup, XM_047424505.1:c.*1046_*1047del, XM_047424505.1:c.*1046_*1047dup, XM_047424507.1:c.*1046_*1047del, XM_047424507.1:c.*1046_*1047dup, XM_047424504.1:c.*1046_*1047del, XM_047424504.1:c.*1046_*1047dup, XM_047424500.1:c.*1046_*1047del, XM_047424500.1:c.*1046_*1047dup, XM_047424509.1:c.*1046_*1047del, XM_047424509.1:c.*1046_*1047dup, XM_047424488.1:c.*1046_*1047del, XM_047424488.1:c.*1046_*1047dup, XM_047424510.1:c.*1046_*1047del, XM_047424510.1:c.*1046_*1047dup

                8.

                rs1490941765 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  10:11346603 (GRCh38)
                  10:11388602 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:11346602:C:G
                  Gene:
                  CELF2-AS1 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0.000142/2 (ALFA)
                  G=0.000015/4 (TOPMED)
                  G=0.000036/5 (GnomAD)
                  HGVS:

                  9.

                  rs1490637037 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    G>- [Show Flanks]
                    Chromosome:
                    10:11325350 (GRCh38)
                    10:11367313 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:11325349:GG:G
                    Gene:
                    CELF2 (Varview), CELF2-AS1 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    GG=0.000071/1 (ALFA)
                    -=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490623671 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G,T [Show Flanks]
                      Chromosome:
                      10:11337608 (GRCh38)
                      10:11379607 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:11337607:C:G,NC_000010.11:11337607:C:T
                      Gene:
                      CELF2-AS1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:

                      11.

                      rs1490582845 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:11345638 (GRCh38)
                        10:11387637 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:11345637:C:T
                        Gene:
                        CELF2-AS1 (Varview)
                        Functional Consequence:
                        2KB_upstream_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000014/2 (GnomAD)
                        HGVS:

                        12.

                        rs1490385677 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          10:11331717 (GRCh38)
                          10:11373680 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:11331716:A:T
                          Gene:
                          CELF2 (Varview), CELF2-AS1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000011/3 (TOPMED)
                          T=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000010.11:g.11331717A>T, NC_000010.10:g.11373680A>T, NM_006561.4:c.*1306A>T, NM_006561.3:c.*1308A>T, NM_001025077.3:c.*2664A>T, NM_001025077.2:c.*2666A>T, NM_001326330.2:c.*2664A>T, NM_001326343.2:c.*2664A>T, NM_001326329.2:c.*2664A>T, NM_001326340.2:c.*2664A>T, NM_001326334.2:c.*2664A>T, NM_001326342.2:c.*2664A>T, NM_001326349.2:c.*2664A>T, NM_001326319.2:c.*2664A>T, NM_001326336.2:c.*2664A>T, NM_001326339.2:c.*2664A>T, NM_001326338.2:c.*2664A>T, NM_001326321.2:c.*2664A>T, NM_001326318.2:c.*2664A>T, NM_001326317.2:c.*2664A>T, NM_001326333.2:c.*2664A>T, NM_001025076.2:c.*1308A>T, NM_001326341.2:c.*1306A>T, NM_001326323.2:c.*1306A>T, NM_001326328.2:c.*1306A>T, NM_001326320.2:c.*1306A>T, NM_001326348.2:c.*1306A>T, NM_001326325.2:c.*1306A>T, XM_024447776.2:c.*1306A>T, XM_024447776.1:c.*1306A>T, NM_001326331.2:c.*1306A>T, NM_001326327.2:c.*1306A>T, NM_001326335.2:c.*1306A>T, NM_001326332.2:c.*1306A>T, NM_001326326.2:c.*1306A>T, NM_001326345.2:c.*1306A>T, NM_001326324.2:c.*1306A>T, NM_001326346.2:c.*1306A>T, NM_001326344.2:c.*1306A>T, NM_001326337.2:c.*1306A>T, NM_001394519.1:c.*2664A>T, NM_001394513.1:c.*2664A>T, NM_001394517.1:c.*2664A>T, NM_001394502.1:c.*2664A>T, XM_047424503.1:c.*2664A>T, XM_047424506.1:c.*2664A>T, XM_047424486.1:c.*1306A>T, XM_047424489.1:c.*1306A>T, NM_001394518.1:c.*1306A>T, NM_001083591.1:c.*1308A>T, XM_047424492.1:c.*1306A>T, XM_047424495.1:c.*1306A>T, XM_047424485.1:c.*1306A>T, XM_047424494.1:c.*1306A>T, XM_047424491.1:c.*1306A>T, XM_047424484.1:c.*1306A>T, XM_047424482.1:c.*1306A>T, XM_047424502.1:c.*1306A>T, XM_047424483.1:c.*1306A>T, XM_047424493.1:c.*1306A>T, XM_047424499.1:c.*1306A>T, XM_047424496.1:c.*1306A>T, XM_047424490.1:c.*1306A>T, XM_047424487.1:c.*1306A>T, XM_047424498.1:c.*1306A>T, XM_047424501.1:c.*1306A>T, XM_047424505.1:c.*1306A>T, XM_047424507.1:c.*1306A>T, XM_047424504.1:c.*1306A>T, XM_047424500.1:c.*1306A>T, XM_047424509.1:c.*1306A>T, XM_047424488.1:c.*1306A>T, XM_047424510.1:c.*1306A>T

                          13.

                          rs1490334695 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AACAACACTTATTGCACCT>- [Show Flanks]
                            Chromosome:
                            10:11332901 (GRCh38)
                            10:11374900 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:11332899:TAACAACACTTATTGCACCT:T
                            Gene:
                            CELF2 (Varview), CELF2-AS1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000010.11:g.11332901_11332919del, NC_000010.10:g.11374900_11374918del, NM_006561.4:c.*2490_*2508del, NM_006561.3:c.*2492_*2510del, NM_001025077.3:c.*3848_*3866del, NM_001025077.2:c.*3850_*3868del, NM_001326330.2:c.*3848_*3866del, NM_001326343.2:c.*3848_*3866del, NM_001326329.2:c.*3848_*3866del, NM_001326340.2:c.*3848_*3866del, NM_001326334.2:c.*3848_*3866del, NM_001326342.2:c.*3848_*3866del, NM_001326349.2:c.*3848_*3866del, NM_001326319.2:c.*3848_*3866del, NM_001326336.2:c.*3848_*3866del, NM_001326339.2:c.*3848_*3866del, NM_001326338.2:c.*3848_*3866del, NM_001326321.2:c.*3848_*3866del, NM_001326318.2:c.*3848_*3866del, NM_001326317.2:c.*3848_*3866del, NM_001326333.2:c.*3848_*3866del, NM_001025076.2:c.*2492_*2510del, NM_001326341.2:c.*2490_*2508del, NM_001326323.2:c.*2490_*2508del, NM_001326328.2:c.*2490_*2508del, NM_001326320.2:c.*2490_*2508del, NM_001326348.2:c.*2490_*2508del, NM_001326325.2:c.*2490_*2508del, XM_024447776.2:c.*2490_*2508del, XM_024447776.1:c.*2490_*2508del, NM_001326331.2:c.*2490_*2508del, NM_001326327.2:c.*2490_*2508del, NM_001326335.2:c.*2490_*2508del, NM_001326332.2:c.*2490_*2508del, NM_001326326.2:c.*2490_*2508del, NM_001326345.2:c.*2490_*2508del, NM_001326324.2:c.*2490_*2508del, NM_001326346.2:c.*2490_*2508del, NM_001326344.2:c.*2490_*2508del, NM_001326337.2:c.*2490_*2508del, NM_001394519.1:c.*3848_*3866del, NM_001394513.1:c.*3848_*3866del, NM_001394517.1:c.*3848_*3866del, NM_001394502.1:c.*3848_*3866del, XM_047424503.1:c.*3848_*3866del, XM_047424506.1:c.*3848_*3866del, XM_047424486.1:c.*2490_*2508del, XM_047424489.1:c.*2490_*2508del, NM_001394518.1:c.*2490_*2508del, NM_001083591.1:c.*2492_*2510del, XM_047424492.1:c.*2490_*2508del, XM_047424495.1:c.*2490_*2508del, XM_047424485.1:c.*2490_*2508del, XM_047424494.1:c.*2490_*2508del, XM_047424491.1:c.*2490_*2508del, XM_047424484.1:c.*2490_*2508del, XM_047424482.1:c.*2490_*2508del, XM_047424502.1:c.*2490_*2508del, XM_047424483.1:c.*2490_*2508del, XM_047424493.1:c.*2490_*2508del, XM_047424499.1:c.*2490_*2508del, XM_047424496.1:c.*2490_*2508del, XM_047424490.1:c.*2490_*2508del, XM_047424487.1:c.*2490_*2508del, XM_047424498.1:c.*2490_*2508del, XM_047424501.1:c.*2490_*2508del, XM_047424505.1:c.*2490_*2508del, XM_047424507.1:c.*2490_*2508del, XM_047424504.1:c.*2490_*2508del, XM_047424500.1:c.*2490_*2508del, XM_047424509.1:c.*2490_*2508del, XM_047424488.1:c.*2490_*2508del, XM_047424510.1:c.*2490_*2508del

                            14.

                            rs1490314991 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              10:11345771 (GRCh38)
                              10:11387770 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:11345770:T:C
                              Gene:
                              CELF2-AS1 (Varview)
                              Functional Consequence:
                              2KB_upstream_variant,upstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490120542 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:11345680 (GRCh38)
                                10:11387679 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:11345679:G:A
                                Gene:
                                CELF2-AS1 (Varview)
                                Functional Consequence:
                                2KB_upstream_variant,upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000071/1 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490120524 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->GT [Show Flanks]
                                  Chromosome:
                                  10:11318384 (GRCh38)
                                  10:11360348 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:11318384:GT:GTGT
                                  Gene:
                                  CELF2 (Varview), CELF2-AS1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  GTGT=0./0 (ALFA)
                                  GT=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1489993682 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->GAAAGTATTATAC [Show Flanks]
                                    Chromosome:
                                    10:11330773 (GRCh38)
                                    10:11372737 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:11330773:GAAAGTATTATAC:GAAAGTATTATACGAAAGTATTATAC
                                    Gene:
                                    CELF2 (Varview), CELF2-AS1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    GAAAGTATTATACGAAAGTATTATAC=0.000094/1 (ALFA)
                                    GAAAGTATTATAC=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000010.11:g.11330774_11330786dup, NC_000010.10:g.11372737_11372749dup, NM_006561.4:c.*363_*375dup, NM_006561.3:c.*363_*375dup, NM_001025077.3:c.*1721_*1733dup, NM_001025077.2:c.*1721_*1733dup, NM_001326330.2:c.*1721_*1733dup, NM_001326330.1:c.*1721_*1733dup, NM_001326343.2:c.*1721_*1733dup, NM_001326343.1:c.*1721_*1733dup, NM_001326329.2:c.*1721_*1733dup, NM_001326329.1:c.*1721_*1733dup, NM_001326340.2:c.*1721_*1733dup, NM_001326340.1:c.*1721_*1733dup, NM_001326334.2:c.*1721_*1733dup, NM_001326334.1:c.*1721_*1733dup, NM_001326342.2:c.*1721_*1733dup, NM_001326342.1:c.*1721_*1733dup, NM_001326349.2:c.*1721_*1733dup, NM_001326349.1:c.*1721_*1733dup, NM_001326319.2:c.*1721_*1733dup, NM_001326319.1:c.*1721_*1733dup, NM_001326336.2:c.*1721_*1733dup, NM_001326336.1:c.*1721_*1733dup, NM_001326339.2:c.*1721_*1733dup, NM_001326339.1:c.*1721_*1733dup, NM_001326338.2:c.*1721_*1733dup, NM_001326338.1:c.*1721_*1733dup, NM_001326321.2:c.*1721_*1733dup, NM_001326321.1:c.*1721_*1733dup, NM_001326318.2:c.*1721_*1733dup, NM_001326318.1:c.*1721_*1733dup, NM_001326317.2:c.*1721_*1733dup, NM_001326317.1:c.*1721_*1733dup, NM_001326333.2:c.*1721_*1733dup, NM_001326333.1:c.*1721_*1733dup, NM_001025076.2:c.*363_*375dup, NM_001326341.2:c.*363_*375dup, NM_001326341.1:c.*363_*375dup, NM_001326323.2:c.*363_*375dup, NM_001326323.1:c.*363_*375dup, NM_001326328.2:c.*363_*375dup, NM_001326328.1:c.*363_*375dup, NM_001326320.2:c.*363_*375dup, NM_001326320.1:c.*363_*375dup, NM_001326348.2:c.*363_*375dup, NM_001326348.1:c.*363_*375dup, NM_001326325.2:c.*363_*375dup, NM_001326325.1:c.*363_*375dup, XM_024447776.2:c.*363_*375dup, XM_024447776.1:c.*363_*375dup, NM_001326331.2:c.*363_*375dup, NM_001326331.1:c.*363_*375dup, NM_001326327.2:c.*363_*375dup, NM_001326327.1:c.*363_*375dup, NM_001326335.2:c.*363_*375dup, NM_001326335.1:c.*363_*375dup, NM_001326332.2:c.*363_*375dup, NM_001326332.1:c.*363_*375dup, NM_001326326.2:c.*363_*375dup, NM_001326326.1:c.*363_*375dup, NM_001326345.2:c.*363_*375dup, NM_001326345.1:c.*363_*375dup, NM_001326324.2:c.*363_*375dup, NM_001326324.1:c.*363_*375dup, NM_001326346.2:c.*363_*375dup, NM_001326346.1:c.*363_*375dup, NM_001326344.2:c.*363_*375dup, NM_001326344.1:c.*363_*375dup, NM_001326337.2:c.*363_*375dup, NM_001326337.1:c.*363_*375dup, NM_001394519.1:c.*1721_*1733dup, NM_001394513.1:c.*1721_*1733dup, NM_001394517.1:c.*1721_*1733dup, NM_001394502.1:c.*1721_*1733dup, XM_047424503.1:c.*1721_*1733dup, XM_047424506.1:c.*1721_*1733dup, XM_047424486.1:c.*363_*375dup, XM_047424489.1:c.*363_*375dup, NM_001394518.1:c.*363_*375dup, NM_001083591.1:c.*363_*375dup, XM_047424492.1:c.*363_*375dup, XM_047424495.1:c.*363_*375dup, XM_047424485.1:c.*363_*375dup, XM_047424494.1:c.*363_*375dup, XM_047424491.1:c.*363_*375dup, XM_047424484.1:c.*363_*375dup, XM_047424482.1:c.*363_*375dup, XM_047424502.1:c.*363_*375dup, XM_047424483.1:c.*363_*375dup, XM_047424493.1:c.*363_*375dup, XM_047424499.1:c.*363_*375dup, XM_047424496.1:c.*363_*375dup, XM_047424490.1:c.*363_*375dup, XM_047424487.1:c.*363_*375dup, XM_047424498.1:c.*363_*375dup, XM_047424501.1:c.*363_*375dup, XM_047424505.1:c.*363_*375dup, XM_047424507.1:c.*363_*375dup, XM_047424504.1:c.*363_*375dup, XM_047424500.1:c.*363_*375dup, XM_047424509.1:c.*363_*375dup, XM_047424488.1:c.*363_*375dup, XM_047424510.1:c.*363_*375dup, NM_001326347.1:c.*363_*375dup

                                    18.

                                    rs1489962430 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      10:11328632 (GRCh38)
                                      10:11370596 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:11328632:AA:AAA
                                      Gene:
                                      CELF2 (Varview), CELF2-AS1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AAA=0./0 (ALFA)
                                      A=0.000151/40 (TOPMED)
                                      A=0.000157/22 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1489892310 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        C>- [Show Flanks]
                                        Chromosome:
                                        10:11339903 (GRCh38)
                                        10:11381902 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:11339902:C:
                                        Gene:
                                        CELF2-AS1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000007/1 (GnomAD)
                                        -=0.000034/9 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1489738677 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          10:11344775 (GRCh38)
                                          10:11386774 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:11344774:G:A
                                          Gene:
                                          CELF2-AS1 (Varview)
                                          Functional Consequence:
                                          2KB_upstream_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000008/2 (TOPMED)
                                          A=0.000021/3 (GnomAD)
                                          HGVS:

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