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Items: 1 to 20 of 1000

1.

rs1491583501 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->AT,T [Show Flanks]
    Chromosome:
    3:33340919 (GRCh38)
    3:33382412 (GRCh37)
    Canonical SPDI:
    NC_000003.12:33340919::AT,NC_000003.12:33340919::T
    Gene:
    FBXL2 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    AT=0.000007/1 (GnomAD)
    T=0.000071/1 (TOMMO)
    HGVS:

    2.

    rs1491574428 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->CA [Show Flanks]
      Chromosome:
      3:33340895 (GRCh38)
      3:33382388 (GRCh37)
      Canonical SPDI:
      NC_000003.12:33340895::CA
      Gene:
      FBXL2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      CA=0./0 (ALFA)
      CA=0.00012/10 (GnomAD)
      HGVS:

      3.

      rs1491546589 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->T [Show Flanks]
        Chromosome:
        3:33404684 (GRCh38)
        3:33446177 (GRCh37)
        Canonical SPDI:
        NC_000003.12:33404684:T:TT
        Gene:
        UBP1 (Varview), FBXL2 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TT=0.000071/1 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491513834 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          3:33386392 (GRCh38)
          3:33427884 (GRCh37)
          Canonical SPDI:
          NC_000003.12:33386391:TG:
          Gene:
          FBXL2 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:
          NC_000003.12:g.33386392_33386393del, NC_000003.11:g.33427884_33427885del, NM_012157.5:c.*784_*785del, NM_012157.4:c.*784_*785del, NM_012157.3:c.*784_*785del, NR_146130.2:n.2385_2386del, NR_146130.1:n.2411_2412del, NM_001349321.2:c.*784_*785del, NM_001349321.1:c.*784_*785del, NM_001349326.2:c.*784_*785del, NM_001349326.1:c.*784_*785del, NR_146134.2:n.2314_2315del, NR_146134.1:n.2340_2341del, NM_001349325.2:c.*784_*785del, NM_001349325.1:c.*784_*785del, NM_001349320.2:c.*784_*785del, NM_001349320.1:c.*784_*785del, NM_001349319.2:c.*784_*785del, NM_001349319.1:c.*784_*785del, NR_146131.2:n.2221_2222del, NR_146131.1:n.2247_2248del, NM_001349316.2:c.*784_*785del, NM_001349316.1:c.*784_*785del, NR_146122.2:n.2219_2220del, NR_146122.1:n.2219_2220del, NR_146135.2:n.2214_2215del, NR_146135.1:n.2240_2241del, NR_146126.2:n.2205_2206del, NR_146126.1:n.2231_2232del, NR_146133.2:n.2177_2178del, NR_146133.1:n.2203_2204del, NM_001349324.2:c.*784_*785del, NM_001349324.1:c.*784_*785del, NM_001349323.2:c.*784_*785del, NM_001349323.1:c.*784_*785del, NR_146121.2:n.2125_2126del, NR_146121.1:n.2125_2126del, NM_001349322.2:c.*784_*785del, NM_001349322.1:c.*784_*785del, NM_001171713.2:c.*784_*785del, NM_001171713.1:c.*784_*785del

          5.

          rs1491510092 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AA>- [Show Flanks]
            Chromosome:
            3:33387908 (GRCh38)
            3:33429400 (GRCh37)
            Canonical SPDI:
            NC_000003.12:33387904:AAAAA:AAA
            Gene:
            UBP1 (Varview), FBXL2 (Varview)
            Functional Consequence:
            intron_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            AAA=0./0 (ALFA)
            HGVS:

            6.

            rs1491507101 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              3:33418860 (GRCh38)
              3:33460352 (GRCh37)
              Canonical SPDI:
              NC_000003.12:33418859:CA:
              Gene:
              UBP1 (Varview), FBXL2 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00017/2 (ALFA)
              -=0.00021/6 (TOMMO)
              HGVS:

              7.

              rs1491463894 has merged into rs56386082 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                3:33341847 (GRCh38)
                3:33383339 (GRCh37)
                Canonical SPDI:
                NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33341832:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                FBXL2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000003.12:g.33341847_33341855del, NC_000003.12:g.33341848_33341855del, NC_000003.12:g.33341849_33341855del, NC_000003.12:g.33341850_33341855del, NC_000003.12:g.33341852_33341855del, NC_000003.12:g.33341853_33341855del, NC_000003.12:g.33341854_33341855del, NC_000003.12:g.33341855del, NC_000003.12:g.33341855dup, NC_000003.12:g.33341854_33341855dup, NC_000003.12:g.33341853_33341855dup, NC_000003.12:g.33341852_33341855dup, NC_000003.12:g.33341851_33341855dup, NC_000003.11:g.33383339_33383347del, NC_000003.11:g.33383340_33383347del, NC_000003.11:g.33383341_33383347del, NC_000003.11:g.33383342_33383347del, NC_000003.11:g.33383344_33383347del, NC_000003.11:g.33383345_33383347del, NC_000003.11:g.33383346_33383347del, NC_000003.11:g.33383347del, NC_000003.11:g.33383347dup, NC_000003.11:g.33383346_33383347dup, NC_000003.11:g.33383345_33383347dup, NC_000003.11:g.33383344_33383347dup, NC_000003.11:g.33383343_33383347dup

                8.

                rs1491437892 has merged into rs60685309 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                  Chromosome:
                  3:33328817 (GRCh38)
                  3:33370309 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:33328801:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                  Gene:
                  FBXL2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TGTGTGTGTGTGTGTGT=0./0 (ALFA)
                  TGTGTGTGTGTG=0.000004/1 (TOPMED)
                  -=0.360224/1804 (1000Genomes)
                  HGVS:
                  NC_000003.12:g.33328803GT[7], NC_000003.12:g.33328803GT[8], NC_000003.12:g.33328803GT[9], NC_000003.12:g.33328803GT[10], NC_000003.12:g.33328803GT[11], NC_000003.12:g.33328803GT[12], NC_000003.12:g.33328803GT[13], NC_000003.12:g.33328803GT[14], NC_000003.12:g.33328803GT[15], NC_000003.12:g.33328803GT[17], NC_000003.12:g.33328803GT[18], NC_000003.12:g.33328803GT[19], NC_000003.12:g.33328803GT[20], NC_000003.12:g.33328803GT[21], NC_000003.12:g.33328803GT[22], NC_000003.12:g.33328803GT[23], NC_000003.11:g.33370295GT[7], NC_000003.11:g.33370295GT[8], NC_000003.11:g.33370295GT[9], NC_000003.11:g.33370295GT[10], NC_000003.11:g.33370295GT[11], NC_000003.11:g.33370295GT[12], NC_000003.11:g.33370295GT[13], NC_000003.11:g.33370295GT[14], NC_000003.11:g.33370295GT[15], NC_000003.11:g.33370295GT[17], NC_000003.11:g.33370295GT[18], NC_000003.11:g.33370295GT[19], NC_000003.11:g.33370295GT[20], NC_000003.11:g.33370295GT[21], NC_000003.11:g.33370295GT[22], NC_000003.11:g.33370295GT[23]

                  9.

                  rs1491432555 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->AAATA [Show Flanks]
                    Chromosome:
                    3:33387905 (GRCh38)
                    3:33429398 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:33387905:AAAATA:AAAATAAAATA
                    Gene:
                    UBP1 (Varview), FBXL2 (Varview)
                    Functional Consequence:
                    intron_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AAAATAAAATA=0./0 (ALFA)
                    AAAAT=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1491426660 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GA>- [Show Flanks]
                      Chromosome:
                      3:33340920 (GRCh38)
                      3:33382412 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:33340918:AGA:A
                      Gene:
                      FBXL2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491419373 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->A,AA,T [Show Flanks]
                        Chromosome:
                        3:33327957 (GRCh38)
                        3:33369450 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:33327957::A,NC_000003.12:33327957::AA,NC_000003.12:33327957::T
                        Gene:
                        FBXL2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        HGVS:

                        12.

                        rs1491418417 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CA>- [Show Flanks]
                          Chromosome:
                          3:33340895 (GRCh38)
                          3:33382387 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:33340894:CA:
                          Gene:
                          FBXL2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0.00042/5 (ALFA)
                          HGVS:

                          13.

                          rs1491390479 has merged into rs56269288 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            3:33388079 (GRCh38)
                            3:33429571 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33388069:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            UBP1 (Varview), FBXL2 (Varview)
                            Functional Consequence:
                            downstream_transcript_variant,intron_variant,3_prime_UTR_variant,500B_downstream_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAA=0./0 (ALFA)
                            -=0.000011/3 (TOPMED)
                            -=0.214286/102 (NorthernSweden)
                            -=0.414736/2077 (1000Genomes)
                            -=0.425/17 (GENOME_DK)
                            HGVS:
                            NC_000003.12:g.33388079_33388087del, NC_000003.12:g.33388080_33388087del, NC_000003.12:g.33388081_33388087del, NC_000003.12:g.33388082_33388087del, NC_000003.12:g.33388083_33388087del, NC_000003.12:g.33388084_33388087del, NC_000003.12:g.33388085_33388087del, NC_000003.12:g.33388086_33388087del, NC_000003.12:g.33388087del, NC_000003.12:g.33388087dup, NC_000003.12:g.33388086_33388087dup, NC_000003.12:g.33388085_33388087dup, NC_000003.12:g.33388084_33388087dup, NC_000003.11:g.33429571_33429579del, NC_000003.11:g.33429572_33429579del, NC_000003.11:g.33429573_33429579del, NC_000003.11:g.33429574_33429579del, NC_000003.11:g.33429575_33429579del, NC_000003.11:g.33429576_33429579del, NC_000003.11:g.33429577_33429579del, NC_000003.11:g.33429578_33429579del, NC_000003.11:g.33429579del, NC_000003.11:g.33429579dup, NC_000003.11:g.33429578_33429579dup, NC_000003.11:g.33429577_33429579dup, NC_000003.11:g.33429576_33429579dup, NM_012157.5:c.*2471_*2479del, NM_012157.5:c.*2472_*2479del, NM_012157.5:c.*2473_*2479del, NM_012157.5:c.*2474_*2479del, NM_012157.5:c.*2475_*2479del, NM_012157.5:c.*2476_*2479del, NM_012157.5:c.*2477_*2479del, NM_012157.5:c.*2478_*2479del, NM_012157.5:c.*2479del, NM_012157.5:c.*2479dup, NM_012157.5:c.*2478_*2479dup, NM_012157.5:c.*2477_*2479dup, NM_012157.5:c.*2476_*2479dup, NR_146130.2:n.4072_4080del, NR_146130.2:n.4073_4080del, NR_146130.2:n.4074_4080del, NR_146130.2:n.4075_4080del, NR_146130.2:n.4076_4080del, NR_146130.2:n.4077_4080del, NR_146130.2:n.4078_4080del, NR_146130.2:n.4079_4080del, NR_146130.2:n.4080del, NR_146130.2:n.4080dup, NR_146130.2:n.4079_4080dup, NR_146130.2:n.4078_4080dup, NR_146130.2:n.4077_4080dup, NM_001349321.2:c.*2471_*2479del, NM_001349321.2:c.*2472_*2479del, NM_001349321.2:c.*2473_*2479del, NM_001349321.2:c.*2474_*2479del, NM_001349321.2:c.*2475_*2479del, NM_001349321.2:c.*2476_*2479del, NM_001349321.2:c.*2477_*2479del, NM_001349321.2:c.*2478_*2479del, NM_001349321.2:c.*2479del, NM_001349321.2:c.*2479dup, NM_001349321.2:c.*2478_*2479dup, NM_001349321.2:c.*2477_*2479dup, NM_001349321.2:c.*2476_*2479dup, NM_001349326.2:c.*2471_*2479del, NM_001349326.2:c.*2472_*2479del, NM_001349326.2:c.*2473_*2479del, NM_001349326.2:c.*2474_*2479del, NM_001349326.2:c.*2475_*2479del, NM_001349326.2:c.*2476_*2479del, NM_001349326.2:c.*2477_*2479del, NM_001349326.2:c.*2478_*2479del, NM_001349326.2:c.*2479del, NM_001349326.2:c.*2479dup, NM_001349326.2:c.*2478_*2479dup, NM_001349326.2:c.*2477_*2479dup, NM_001349326.2:c.*2476_*2479dup, NR_146134.2:n.4001_4009del, NR_146134.2:n.4002_4009del, NR_146134.2:n.4003_4009del, NR_146134.2:n.4004_4009del, NR_146134.2:n.4005_4009del, NR_146134.2:n.4006_4009del, NR_146134.2:n.4007_4009del, NR_146134.2:n.4008_4009del, NR_146134.2:n.4009del, NR_146134.2:n.4009dup, NR_146134.2:n.4008_4009dup, NR_146134.2:n.4007_4009dup, NR_146134.2:n.4006_4009dup, NM_001349325.2:c.*2471_*2479del, NM_001349325.2:c.*2472_*2479del, NM_001349325.2:c.*2473_*2479del, NM_001349325.2:c.*2474_*2479del, NM_001349325.2:c.*2475_*2479del, NM_001349325.2:c.*2476_*2479del, NM_001349325.2:c.*2477_*2479del, NM_001349325.2:c.*2478_*2479del, NM_001349325.2:c.*2479del, NM_001349325.2:c.*2479dup, NM_001349325.2:c.*2478_*2479dup, NM_001349325.2:c.*2477_*2479dup, NM_001349325.2:c.*2476_*2479dup, NM_001349320.2:c.*2471_*2479del, NM_001349320.2:c.*2472_*2479del, NM_001349320.2:c.*2473_*2479del, NM_001349320.2:c.*2474_*2479del, NM_001349320.2:c.*2475_*2479del, NM_001349320.2:c.*2476_*2479del, NM_001349320.2:c.*2477_*2479del, NM_001349320.2:c.*2478_*2479del, NM_001349320.2:c.*2479del, NM_001349320.2:c.*2479dup, NM_001349320.2:c.*2478_*2479dup, NM_001349320.2:c.*2477_*2479dup, NM_001349320.2:c.*2476_*2479dup, NM_001349319.2:c.*2471_*2479del, NM_001349319.2:c.*2472_*2479del, NM_001349319.2:c.*2473_*2479del, NM_001349319.2:c.*2474_*2479del, NM_001349319.2:c.*2475_*2479del, NM_001349319.2:c.*2476_*2479del, NM_001349319.2:c.*2477_*2479del, NM_001349319.2:c.*2478_*2479del, NM_001349319.2:c.*2479del, NM_001349319.2:c.*2479dup, NM_001349319.2:c.*2478_*2479dup, NM_001349319.2:c.*2477_*2479dup, NM_001349319.2:c.*2476_*2479dup, NR_146131.2:n.3908_3916del, NR_146131.2:n.3909_3916del, NR_146131.2:n.3910_3916del, NR_146131.2:n.3911_3916del, NR_146131.2:n.3912_3916del, NR_146131.2:n.3913_3916del, NR_146131.2:n.3914_3916del, NR_146131.2:n.3915_3916del, NR_146131.2:n.3916del, NR_146131.2:n.3916dup, NR_146131.2:n.3915_3916dup, NR_146131.2:n.3914_3916dup, NR_146131.2:n.3913_3916dup, NM_001349316.2:c.*2471_*2479del, NM_001349316.2:c.*2472_*2479del, NM_001349316.2:c.*2473_*2479del, NM_001349316.2:c.*2474_*2479del, NM_001349316.2:c.*2475_*2479del, NM_001349316.2:c.*2476_*2479del, NM_001349316.2:c.*2477_*2479del, NM_001349316.2:c.*2478_*2479del, NM_001349316.2:c.*2479del, NM_001349316.2:c.*2479dup, NM_001349316.2:c.*2478_*2479dup, NM_001349316.2:c.*2477_*2479dup, NM_001349316.2:c.*2476_*2479dup, NR_146122.2:n.3906_3914del, NR_146122.2:n.3907_3914del, NR_146122.2:n.3908_3914del, NR_146122.2:n.3909_3914del, NR_146122.2:n.3910_3914del, NR_146122.2:n.3911_3914del, NR_146122.2:n.3912_3914del, NR_146122.2:n.3913_3914del, NR_146122.2:n.3914del, NR_146122.2:n.3914dup, NR_146122.2:n.3913_3914dup, NR_146122.2:n.3912_3914dup, NR_146122.2:n.3911_3914dup, NR_146135.2:n.3901_3909del, NR_146135.2:n.3902_3909del, NR_146135.2:n.3903_3909del, NR_146135.2:n.3904_3909del, NR_146135.2:n.3905_3909del, NR_146135.2:n.3906_3909del, NR_146135.2:n.3907_3909del, NR_146135.2:n.3908_3909del, NR_146135.2:n.3909del, NR_146135.2:n.3909dup, NR_146135.2:n.3908_3909dup, NR_146135.2:n.3907_3909dup, NR_146135.2:n.3906_3909dup, NR_146126.2:n.3892_3900del, NR_146126.2:n.3893_3900del, NR_146126.2:n.3894_3900del, NR_146126.2:n.3895_3900del, NR_146126.2:n.3896_3900del, NR_146126.2:n.3897_3900del, NR_146126.2:n.3898_3900del, NR_146126.2:n.3899_3900del, NR_146126.2:n.3900del, NR_146126.2:n.3900dup, NR_146126.2:n.3899_3900dup, NR_146126.2:n.3898_3900dup, NR_146126.2:n.3897_3900dup, NR_146133.2:n.3864_3872del, NR_146133.2:n.3865_3872del, NR_146133.2:n.3866_3872del, NR_146133.2:n.3867_3872del, NR_146133.2:n.3868_3872del, NR_146133.2:n.3869_3872del, NR_146133.2:n.3870_3872del, NR_146133.2:n.3871_3872del, NR_146133.2:n.3872del, NR_146133.2:n.3872dup, NR_146133.2:n.3871_3872dup, NR_146133.2:n.3870_3872dup, NR_146133.2:n.3869_3872dup, NM_001349324.2:c.*2471_*2479del, NM_001349324.2:c.*2472_*2479del, NM_001349324.2:c.*2473_*2479del, NM_001349324.2:c.*2474_*2479del, NM_001349324.2:c.*2475_*2479del, NM_001349324.2:c.*2476_*2479del, NM_001349324.2:c.*2477_*2479del, NM_001349324.2:c.*2478_*2479del, NM_001349324.2:c.*2479del, NM_001349324.2:c.*2479dup, NM_001349324.2:c.*2478_*2479dup, NM_001349324.2:c.*2477_*2479dup, NM_001349324.2:c.*2476_*2479dup, NM_001349323.2:c.*2471_*2479del, NM_001349323.2:c.*2472_*2479del, NM_001349323.2:c.*2473_*2479del, NM_001349323.2:c.*2474_*2479del, NM_001349323.2:c.*2475_*2479del, NM_001349323.2:c.*2476_*2479del, NM_001349323.2:c.*2477_*2479del, NM_001349323.2:c.*2478_*2479del, NM_001349323.2:c.*2479del, NM_001349323.2:c.*2479dup, NM_001349323.2:c.*2478_*2479dup, NM_001349323.2:c.*2477_*2479dup, NM_001349323.2:c.*2476_*2479dup, NR_146121.2:n.3812_3820del, NR_146121.2:n.3813_3820del, NR_146121.2:n.3814_3820del, NR_146121.2:n.3815_3820del, NR_146121.2:n.3816_3820del, NR_146121.2:n.3817_3820del, NR_146121.2:n.3818_3820del, NR_146121.2:n.3819_3820del, NR_146121.2:n.3820del, NR_146121.2:n.3820dup, NR_146121.2:n.3819_3820dup, NR_146121.2:n.3818_3820dup, NR_146121.2:n.3817_3820dup, NM_001349322.2:c.*2471_*2479del, NM_001349322.2:c.*2472_*2479del, NM_001349322.2:c.*2473_*2479del, NM_001349322.2:c.*2474_*2479del, NM_001349322.2:c.*2475_*2479del, NM_001349322.2:c.*2476_*2479del, NM_001349322.2:c.*2477_*2479del, NM_001349322.2:c.*2478_*2479del, NM_001349322.2:c.*2479del, NM_001349322.2:c.*2479dup, NM_001349322.2:c.*2478_*2479dup, NM_001349322.2:c.*2477_*2479dup, NM_001349322.2:c.*2476_*2479dup

                            14.

                            rs1491341860 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->T [Show Flanks]
                              Chromosome:
                              3:33380554 (GRCh38)
                              3:33422047 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:33380554:T:TT
                              Gene:
                              FBXL2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              TT=0./0 (ALFA)
                              T=0.00005/5 (GnomAD)
                              HGVS:

                              15.

                              rs1491326285 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                3:33404684 (GRCh38)
                                3:33446176 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:33404683:CT:
                                Gene:
                                UBP1 (Varview), FBXL2 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000008/2 (TOPMED)
                                HGVS:

                                16.

                                rs1491286187 has merged into rs59774815 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                                  Chromosome:
                                  3:33418871 (GRCh38)
                                  3:33460363 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:33418860:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  UBP1 (Varview), FBXL2 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAA=0./0 (ALFA)
                                  -=0.1388/695 (1000Genomes)
                                  HGVS:
                                  NC_000003.12:g.33418871_33418884del, NC_000003.12:g.33418872_33418884del, NC_000003.12:g.33418873_33418884del, NC_000003.12:g.33418874_33418884del, NC_000003.12:g.33418875_33418884del, NC_000003.12:g.33418876_33418884del, NC_000003.12:g.33418877_33418884del, NC_000003.12:g.33418878_33418884del, NC_000003.12:g.33418879_33418884del, NC_000003.12:g.33418880_33418884del, NC_000003.12:g.33418881_33418884del, NC_000003.12:g.33418882_33418884del, NC_000003.12:g.33418883_33418884del, NC_000003.12:g.33418884del, NC_000003.12:g.33418884dup, NC_000003.12:g.33418883_33418884dup, NC_000003.12:g.33418882_33418884dup, NC_000003.12:g.33418881_33418884dup, NC_000003.12:g.33418884_33418885insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.33418884_33418885insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.33418884_33418885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.33460363_33460376del, NC_000003.11:g.33460364_33460376del, NC_000003.11:g.33460365_33460376del, NC_000003.11:g.33460366_33460376del, NC_000003.11:g.33460367_33460376del, NC_000003.11:g.33460368_33460376del, NC_000003.11:g.33460369_33460376del, NC_000003.11:g.33460370_33460376del, NC_000003.11:g.33460371_33460376del, NC_000003.11:g.33460372_33460376del, NC_000003.11:g.33460373_33460376del, NC_000003.11:g.33460374_33460376del, NC_000003.11:g.33460375_33460376del, NC_000003.11:g.33460376del, NC_000003.11:g.33460376dup, NC_000003.11:g.33460375_33460376dup, NC_000003.11:g.33460374_33460376dup, NC_000003.11:g.33460373_33460376dup, NC_000003.11:g.33460376_33460377insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.33460376_33460377insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.33460376_33460377insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                                  17.

                                  rs1491242547 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->A [Show Flanks]
                                    Chromosome:
                                    3:33315233 (GRCh38)
                                    3:33356726 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:33315233::A
                                    Gene:
                                    FBXL2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491233223 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CT>- [Show Flanks]
                                      Chromosome:
                                      3:33315234 (GRCh38)
                                      3:33356726 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:33315232:TCT:T
                                      Gene:
                                      FBXL2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      -=0.000057/8 (GnomAD)
                                      -=0.000243/4 (TOMMO)
                                      -=0.002183/4 (Korea1K)
                                      HGVS:

                                      19.

                                      rs1491209275 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        3:33341832 (GRCh38)
                                        3:33383324 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:33341831:GA:
                                        Gene:
                                        FBXL2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.0011/13 (ALFA)
                                        -=0.0024/39 (TOMMO)
                                        HGVS:

                                        20.

                                        rs1491200712 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          TA>- [Show Flanks]
                                          Chromosome:
                                          3:33380555 (GRCh38)
                                          3:33422047 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:33380553:ATA:A
                                          Gene:
                                          FBXL2 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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