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Items: 1 to 20 of 1000

1.

rs1491582899 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    TA>- [Show Flanks]
    Chromosome:
    3:9476459 (GRCh38)
    3:9518143 (GRCh37)
    Canonical SPDI:
    NC_000003.12:9476458:TA:
    Gene:
    SETD5 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    -=0.002951/35 (ALFA)
    -=0.004095/515 (GnomAD)
    HGVS:
    NC_000003.12:g.9476459_9476460del, NC_000003.11:g.9518143_9518144del, NG_034132.1:g.83760_83761del, NM_001080517.3:c.*368_*369del, NM_001080517.2:c.*368_*369del, NM_001080517.1:c.*368_*369del, NM_001349451.2:c.*368_*369del, NM_001349451.1:c.*368_*369del, NM_001292043.2:c.*368_*369del, NM_001292043.1:c.*368_*369del, XM_011533922.2:c.*368_*369del, XM_011533922.1:c.*368_*369del, XM_017006771.2:c.*368_*369del, XM_017006771.1:c.*368_*369del, XM_011533928.2:c.*368_*369del, XM_011533928.1:c.*368_*369del, XM_017006774.2:c.*368_*369del, XM_017006774.1:c.*368_*369del, XM_005265301.2:c.*368_*369del, XM_005265301.1:c.*368_*369del, XM_011533933.2:c.*368_*369del, XM_011533933.1:c.*368_*369del, NM_018187.2:c.*368_*369del, XM_047448468.1:c.*368_*369del, XM_047448491.1:c.*368_*369del, XM_047448466.1:c.*368_*369del, XM_047448478.1:c.*368_*369del, XM_047448477.1:c.*368_*369del, XM_047448485.1:c.*368_*369del, XM_047448483.1:c.*368_*369del, XM_047448486.1:c.*368_*369del, XM_047448495.1:c.*368_*369del, XM_047448471.1:c.*368_*369del, XM_047448467.1:c.*368_*369del, XM_047448470.1:c.*368_*369del, XM_047448469.1:c.*368_*369del, XM_047448494.1:c.*368_*369del, XM_047448484.1:c.*368_*369del, XM_047448498.1:c.*368_*369del, XM_047448476.1:c.*368_*369del, XM_047448472.1:c.*368_*369del, XM_047448475.1:c.*368_*369del, XM_047448473.1:c.*368_*369del, XM_047448482.1:c.*368_*369del, XM_047448489.1:c.*368_*369del, XM_047448487.1:c.*368_*369del, XM_047448496.1:c.*368_*369del, XM_047448474.1:c.*368_*369del, XM_047448479.1:c.*368_*369del, XM_047448481.1:c.*368_*369del, XM_047448480.1:c.*368_*369del, XM_047448490.1:c.*368_*369del, XM_047448488.1:c.*368_*369del, XM_047448492.1:c.*368_*369del, XM_047448497.1:c.*368_*369del, XM_047448493.1:c.*368_*369del, XM_047448499.1:c.*368_*369del

    2.

    rs1491563718 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AG>- [Show Flanks]
      Chromosome:
      3:9395876 (GRCh38)
      3:9437560 (GRCh37)
      Canonical SPDI:
      NC_000003.12:9395870:GAGAGAG:GAGAG
      Gene:
      SETD5 (Varview), THUMPD3-AS1 (Varview)
      Functional Consequence:
      intron_variant,upstream_transcript_variant,2KB_upstream_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGAG=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.000007/1 (GnomAD)
      HGVS:

      3.

      rs1491549666 [Homo sapiens]
        Variant type:
        INS
        Alleles:
        ->A [Show Flanks]
        Chromosome:
        3:9452660 (GRCh38)
        3:9494345 (GRCh37)
        Canonical SPDI:
        NC_000003.12:9452660::A
        Gene:
        SETD5 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        HGVS:

        4.

        rs1491513219 has merged into rs5846639 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          3:9476469 (GRCh38)
          3:9518153 (GRCh37)
          Canonical SPDI:
          NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:9476459:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          SETD5 (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAA=0./0 (ALFA)
          -=0.425/17 (GENOME_DK)
          HGVS:
          NC_000003.12:g.9476469_9476478del, NC_000003.12:g.9476470_9476478del, NC_000003.12:g.9476474_9476478del, NC_000003.12:g.9476475_9476478del, NC_000003.12:g.9476476_9476478del, NC_000003.12:g.9476477_9476478del, NC_000003.12:g.9476478del, NC_000003.12:g.9476478dup, NC_000003.12:g.9476477_9476478dup, NC_000003.12:g.9476473_9476478dup, NC_000003.12:g.9476472_9476478dup, NC_000003.12:g.9476471_9476478dup, NC_000003.11:g.9518153_9518162del, NC_000003.11:g.9518154_9518162del, NC_000003.11:g.9518158_9518162del, NC_000003.11:g.9518159_9518162del, NC_000003.11:g.9518160_9518162del, NC_000003.11:g.9518161_9518162del, NC_000003.11:g.9518162del, NC_000003.11:g.9518162dup, NC_000003.11:g.9518161_9518162dup, NC_000003.11:g.9518157_9518162dup, NC_000003.11:g.9518156_9518162dup, NC_000003.11:g.9518155_9518162dup, NG_034132.1:g.83770_83779del, NG_034132.1:g.83771_83779del, NG_034132.1:g.83775_83779del, NG_034132.1:g.83776_83779del, NG_034132.1:g.83777_83779del, NG_034132.1:g.83778_83779del, NG_034132.1:g.83779del, NG_034132.1:g.83779dup, NG_034132.1:g.83778_83779dup, NG_034132.1:g.83774_83779dup, NG_034132.1:g.83773_83779dup, NG_034132.1:g.83772_83779dup, NM_001080517.3:c.*378_*387del, NM_001080517.3:c.*379_*387del, NM_001080517.3:c.*383_*387del, NM_001080517.3:c.*384_*387del, NM_001080517.3:c.*385_*387del, NM_001080517.3:c.*386_*387del, NM_001080517.3:c.*387del, NM_001080517.3:c.*387dup, NM_001080517.3:c.*386_*387dup, NM_001080517.3:c.*382_*387dup, NM_001080517.3:c.*381_*387dup, NM_001080517.3:c.*380_*387dup, NM_001080517.2:c.*378_*387del, NM_001080517.2:c.*379_*387del, NM_001080517.2:c.*383_*387del, NM_001080517.2:c.*384_*387del, NM_001080517.2:c.*385_*387del, NM_001080517.2:c.*386_*387del, NM_001080517.2:c.*387del, NM_001080517.2:c.*387dup, NM_001080517.2:c.*386_*387dup, NM_001080517.2:c.*382_*387dup, NM_001080517.2:c.*381_*387dup, NM_001080517.2:c.*380_*387dup, NM_001080517.1:c.*378_*387del, NM_001080517.1:c.*379_*387del, NM_001080517.1:c.*383_*387del, NM_001080517.1:c.*384_*387del, NM_001080517.1:c.*385_*387del, NM_001080517.1:c.*386_*387del, NM_001080517.1:c.*387del, NM_001080517.1:c.*387dup, NM_001080517.1:c.*386_*387dup, NM_001080517.1:c.*382_*387dup, NM_001080517.1:c.*381_*387dup, NM_001080517.1:c.*380_*387dup, NM_001349451.2:c.*378_*387del, NM_001349451.2:c.*379_*387del, NM_001349451.2:c.*383_*387del, NM_001349451.2:c.*384_*387del, NM_001349451.2:c.*385_*387del, NM_001349451.2:c.*386_*387del, NM_001349451.2:c.*387del, NM_001349451.2:c.*387dup, NM_001349451.2:c.*386_*387dup, NM_001349451.2:c.*382_*387dup, NM_001349451.2:c.*381_*387dup, NM_001349451.2:c.*380_*387dup, NM_001349451.1:c.*378_*387del, NM_001349451.1:c.*379_*387del, NM_001349451.1:c.*383_*387del, NM_001349451.1:c.*384_*387del, NM_001349451.1:c.*385_*387del, NM_001349451.1:c.*386_*387del, NM_001349451.1:c.*387del, NM_001349451.1:c.*387dup, NM_001349451.1:c.*386_*387dup, NM_001349451.1:c.*382_*387dup, NM_001349451.1:c.*381_*387dup, NM_001349451.1:c.*380_*387dup, NM_001292043.2:c.*378_*387del, NM_001292043.2:c.*379_*387del, NM_001292043.2:c.*383_*387del, NM_001292043.2:c.*384_*387del, NM_001292043.2:c.*385_*387del, NM_001292043.2:c.*386_*387del, NM_001292043.2:c.*387del, NM_001292043.2:c.*387dup, NM_001292043.2:c.*386_*387dup, NM_001292043.2:c.*382_*387dup, NM_001292043.2:c.*381_*387dup, NM_001292043.2:c.*380_*387dup, NM_001292043.1:c.*378_*387del, NM_001292043.1:c.*379_*387del, NM_001292043.1:c.*383_*387del, NM_001292043.1:c.*384_*387del, NM_001292043.1:c.*385_*387del, NM_001292043.1:c.*386_*387del, NM_001292043.1:c.*387del, NM_001292043.1:c.*387dup, NM_001292043.1:c.*386_*387dup, NM_001292043.1:c.*382_*387dup, NM_001292043.1:c.*381_*387dup, NM_001292043.1:c.*380_*387dup, XM_011533922.2:c.*378_*387del, XM_011533922.2:c.*379_*387del, XM_011533922.2:c.*383_*387del, XM_011533922.2:c.*384_*387del, XM_011533922.2:c.*385_*387del, XM_011533922.2:c.*386_*387del, XM_011533922.2:c.*387del, XM_011533922.2:c.*387dup, XM_011533922.2:c.*386_*387dup, XM_011533922.2:c.*382_*387dup, XM_011533922.2:c.*381_*387dup, XM_011533922.2:c.*380_*387dup, XM_011533922.1:c.*378_*387del, XM_011533922.1:c.*379_*387del, XM_011533922.1:c.*383_*387del, XM_011533922.1:c.*384_*387del, XM_011533922.1:c.*385_*387del, XM_011533922.1:c.*386_*387del, XM_011533922.1:c.*387del, XM_011533922.1:c.*387dup, XM_011533922.1:c.*386_*387dup, XM_011533922.1:c.*382_*387dup, XM_011533922.1:c.*381_*387dup, XM_011533922.1:c.*380_*387dup, XM_017006771.2:c.*378_*387del, XM_017006771.2:c.*379_*387del, XM_017006771.2:c.*383_*387del, XM_017006771.2:c.*384_*387del, XM_017006771.2:c.*385_*387del, XM_017006771.2:c.*386_*387del, XM_017006771.2:c.*387del, XM_017006771.2:c.*387dup, XM_017006771.2:c.*386_*387dup, XM_017006771.2:c.*382_*387dup, XM_017006771.2:c.*381_*387dup, XM_017006771.2:c.*380_*387dup, XM_017006771.1:c.*378_*387del, XM_017006771.1:c.*379_*387del, XM_017006771.1:c.*383_*387del, XM_017006771.1:c.*384_*387del, XM_017006771.1:c.*385_*387del, XM_017006771.1:c.*386_*387del, XM_017006771.1:c.*387del, XM_017006771.1:c.*387dup, XM_017006771.1:c.*386_*387dup, XM_017006771.1:c.*382_*387dup, XM_017006771.1:c.*381_*387dup, XM_017006771.1:c.*380_*387dup, XM_011533928.2:c.*378_*387del, XM_011533928.2:c.*379_*387del, XM_011533928.2:c.*383_*387del, XM_011533928.2:c.*384_*387del, XM_011533928.2:c.*385_*387del, XM_011533928.2:c.*386_*387del, XM_011533928.2:c.*387del, XM_011533928.2:c.*387dup, XM_011533928.2:c.*386_*387dup, XM_011533928.2:c.*382_*387dup, XM_011533928.2:c.*381_*387dup, XM_011533928.2:c.*380_*387dup, XM_011533928.1:c.*378_*387del, XM_011533928.1:c.*379_*387del, XM_011533928.1:c.*383_*387del, XM_011533928.1:c.*384_*387del, XM_011533928.1:c.*385_*387del, XM_011533928.1:c.*386_*387del, XM_011533928.1:c.*387del, XM_011533928.1:c.*387dup, XM_011533928.1:c.*386_*387dup, XM_011533928.1:c.*382_*387dup, XM_011533928.1:c.*381_*387dup, XM_011533928.1:c.*380_*387dup, XM_017006774.2:c.*378_*387del, XM_017006774.2:c.*379_*387del, XM_017006774.2:c.*383_*387del, XM_017006774.2:c.*384_*387del, XM_017006774.2:c.*385_*387del, XM_017006774.2:c.*386_*387del, XM_017006774.2:c.*387del, XM_017006774.2:c.*387dup, XM_017006774.2:c.*386_*387dup, XM_017006774.2:c.*382_*387dup, XM_017006774.2:c.*381_*387dup, XM_017006774.2:c.*380_*387dup, XM_017006774.1:c.*378_*387del, XM_017006774.1:c.*379_*387del, XM_017006774.1:c.*383_*387del, XM_017006774.1:c.*384_*387del, XM_017006774.1:c.*385_*387del, XM_017006774.1:c.*386_*387del, XM_017006774.1:c.*387del, XM_017006774.1:c.*387dup, XM_017006774.1:c.*386_*387dup, XM_017006774.1:c.*382_*387dup, XM_017006774.1:c.*381_*387dup, XM_017006774.1:c.*380_*387dup, XM_005265301.2:c.*378_*387del, XM_005265301.2:c.*379_*387del, XM_005265301.2:c.*383_*387del, XM_005265301.2:c.*384_*387del, XM_005265301.2:c.*385_*387del, XM_005265301.2:c.*386_*387del, XM_005265301.2:c.*387del, XM_005265301.2:c.*387dup, XM_005265301.2:c.*386_*387dup, XM_005265301.2:c.*382_*387dup, XM_005265301.2:c.*381_*387dup, XM_005265301.2:c.*380_*387dup, XM_005265301.1:c.*378_*387del, XM_005265301.1:c.*379_*387del, XM_005265301.1:c.*383_*387del, XM_005265301.1:c.*384_*387del, XM_005265301.1:c.*385_*387del, XM_005265301.1:c.*386_*387del, XM_005265301.1:c.*387del, XM_005265301.1:c.*387dup, XM_005265301.1:c.*386_*387dup, XM_005265301.1:c.*382_*387dup, XM_005265301.1:c.*381_*387dup, XM_005265301.1:c.*380_*387dup, XM_011533933.2:c.*378_*387del, XM_011533933.2:c.*379_*387del, XM_011533933.2:c.*383_*387del, XM_011533933.2:c.*384_*387del, XM_011533933.2:c.*385_*387del, XM_011533933.2:c.*386_*387del, XM_011533933.2:c.*387del, XM_011533933.2:c.*387dup, XM_011533933.2:c.*386_*387dup, XM_011533933.2:c.*382_*387dup, XM_011533933.2:c.*381_*387dup, XM_011533933.2:c.*380_*387dup, XM_011533933.1:c.*378_*387del, XM_011533933.1:c.*379_*387del, XM_011533933.1:c.*383_*387del, XM_011533933.1:c.*384_*387del, XM_011533933.1:c.*385_*387del, XM_011533933.1:c.*386_*387del, XM_011533933.1:c.*387del, XM_011533933.1:c.*387dup, XM_011533933.1:c.*386_*387dup, XM_011533933.1:c.*382_*387dup, XM_011533933.1:c.*381_*387dup, XM_011533933.1:c.*380_*387dup, NM_018187.2:c.*386dup, NM_018187.2:c.*378_*386del, NM_018187.2:c.*379_*386del, NM_018187.2:c.*383_*386del, NM_018187.2:c.*384_*386del, NM_018187.2:c.*385_*386del, NM_018187.2:c.*386del, NM_018187.2:c.*385_*386dup, NM_018187.2:c.*384_*386dup, NM_018187.2:c.*380_*386dup, NM_018187.2:c.*379_*386dup, NM_018187.2:c.*378_*386dup, XM_047448468.1:c.*378_*387del, XM_047448468.1:c.*379_*387del, XM_047448468.1:c.*383_*387del, XM_047448468.1:c.*384_*387del, XM_047448468.1:c.*385_*387del, XM_047448468.1:c.*386_*387del, XM_047448468.1:c.*387del, XM_047448468.1:c.*387dup, XM_047448468.1:c.*386_*387dup, XM_047448468.1:c.*382_*387dup, XM_047448468.1:c.*381_*387dup, XM_047448468.1:c.*380_*387dup, XM_047448491.1:c.*378_*387del, XM_047448491.1:c.*379_*387del, XM_047448491.1:c.*383_*387del, XM_047448491.1:c.*384_*387del, XM_047448491.1:c.*385_*387del, XM_047448491.1:c.*386_*387del, XM_047448491.1:c.*387del, XM_047448491.1:c.*387dup, XM_047448491.1:c.*386_*387dup, XM_047448491.1:c.*382_*387dup, XM_047448491.1:c.*381_*387dup, XM_047448491.1:c.*380_*387dup, XM_047448466.1:c.*378_*387del, XM_047448466.1:c.*379_*387del, XM_047448466.1:c.*383_*387del, XM_047448466.1:c.*384_*387del, XM_047448466.1:c.*385_*387del, XM_047448466.1:c.*386_*387del, XM_047448466.1:c.*387del, XM_047448466.1:c.*387dup, XM_047448466.1:c.*386_*387dup, XM_047448466.1:c.*382_*387dup, XM_047448466.1:c.*381_*387dup, XM_047448466.1:c.*380_*387dup, XM_047448478.1:c.*378_*387del, XM_047448478.1:c.*379_*387del, XM_047448478.1:c.*383_*387del, XM_047448478.1:c.*384_*387del, XM_047448478.1:c.*385_*387del, XM_047448478.1:c.*386_*387del, XM_047448478.1:c.*387del, XM_047448478.1:c.*387dup, XM_047448478.1:c.*386_*387dup, XM_047448478.1:c.*382_*387dup, XM_047448478.1:c.*381_*387dup, XM_047448478.1:c.*380_*387dup, XM_047448477.1:c.*378_*387del, XM_047448477.1:c.*379_*387del, XM_047448477.1:c.*383_*387del, XM_047448477.1:c.*384_*387del, XM_047448477.1:c.*385_*387del, XM_047448477.1:c.*386_*387del, XM_047448477.1:c.*387del, XM_047448477.1:c.*387dup, XM_047448477.1:c.*386_*387dup, XM_047448477.1:c.*382_*387dup, XM_047448477.1:c.*381_*387dup, XM_047448477.1:c.*380_*387dup, XM_047448485.1:c.*378_*387del, XM_047448485.1:c.*379_*387del, XM_047448485.1:c.*383_*387del, XM_047448485.1:c.*384_*387del, XM_047448485.1:c.*385_*387del, XM_047448485.1:c.*386_*387del, XM_047448485.1:c.*387del, XM_047448485.1:c.*387dup, XM_047448485.1:c.*386_*387dup, XM_047448485.1:c.*382_*387dup, XM_047448485.1:c.*381_*387dup, XM_047448485.1:c.*380_*387dup, XM_047448483.1:c.*378_*387del, XM_047448483.1:c.*379_*387del, XM_047448483.1:c.*383_*387del, XM_047448483.1:c.*384_*387del, XM_047448483.1:c.*385_*387del, XM_047448483.1:c.*386_*387del, XM_047448483.1:c.*387del, XM_047448483.1:c.*387dup, XM_047448483.1:c.*386_*387dup, XM_047448483.1:c.*382_*387dup, XM_047448483.1:c.*381_*387dup, XM_047448483.1:c.*380_*387dup, XM_047448486.1:c.*378_*387del, XM_047448486.1:c.*379_*387del, XM_047448486.1:c.*383_*387del, XM_047448486.1:c.*384_*387del, XM_047448486.1:c.*385_*387del, XM_047448486.1:c.*386_*387del, XM_047448486.1:c.*387del, XM_047448486.1:c.*387dup, XM_047448486.1:c.*386_*387dup, XM_047448486.1:c.*382_*387dup, XM_047448486.1:c.*381_*387dup, XM_047448486.1:c.*380_*387dup, XM_047448495.1:c.*378_*387del, XM_047448495.1:c.*379_*387del, XM_047448495.1:c.*383_*387del, XM_047448495.1:c.*384_*387del, XM_047448495.1:c.*385_*387del, XM_047448495.1:c.*386_*387del, XM_047448495.1:c.*387del, XM_047448495.1:c.*387dup, XM_047448495.1:c.*386_*387dup, XM_047448495.1:c.*382_*387dup, XM_047448495.1:c.*381_*387dup, XM_047448495.1:c.*380_*387dup, XM_047448471.1:c.*378_*387del, XM_047448471.1:c.*379_*387del, XM_047448471.1:c.*383_*387del, XM_047448471.1:c.*384_*387del, XM_047448471.1:c.*385_*387del, XM_047448471.1:c.*386_*387del, XM_047448471.1:c.*387del, XM_047448471.1:c.*387dup, XM_047448471.1:c.*386_*387dup, XM_047448471.1:c.*382_*387dup, XM_047448471.1:c.*381_*387dup, XM_047448471.1:c.*380_*387dup, XM_047448467.1:c.*378_*387del, XM_047448467.1:c.*379_*387del, XM_047448467.1:c.*383_*387del, XM_047448467.1:c.*384_*387del, XM_047448467.1:c.*385_*387del, XM_047448467.1:c.*386_*387del, XM_047448467.1:c.*387del, XM_047448467.1:c.*387dup, XM_047448467.1:c.*386_*387dup, XM_047448467.1:c.*382_*387dup, XM_047448467.1:c.*381_*387dup, XM_047448467.1:c.*380_*387dup, XM_047448470.1:c.*378_*387del, XM_047448470.1:c.*379_*387del, XM_047448470.1:c.*383_*387del, XM_047448470.1:c.*384_*387del, XM_047448470.1:c.*385_*387del, XM_047448470.1:c.*386_*387del, XM_047448470.1:c.*387del, XM_047448470.1:c.*387dup, XM_047448470.1:c.*386_*387dup, XM_047448470.1:c.*382_*387dup, XM_047448470.1:c.*381_*387dup, XM_047448470.1:c.*380_*387dup, XM_047448469.1:c.*378_*387del, XM_047448469.1:c.*379_*387del, XM_047448469.1:c.*383_*387del, XM_047448469.1:c.*384_*387del, XM_047448469.1:c.*385_*387del, XM_047448469.1:c.*386_*387del, XM_047448469.1:c.*387del, XM_047448469.1:c.*387dup, XM_047448469.1:c.*386_*387dup, XM_047448469.1:c.*382_*387dup, XM_047448469.1:c.*381_*387dup, XM_047448469.1:c.*380_*387dup, XM_047448494.1:c.*378_*387del, XM_047448494.1:c.*379_*387del, XM_047448494.1:c.*383_*387del, XM_047448494.1:c.*384_*387del, XM_047448494.1:c.*385_*387del, XM_047448494.1:c.*386_*387del, XM_047448494.1:c.*387del, XM_047448494.1:c.*387dup, XM_047448494.1:c.*386_*387dup, XM_047448494.1:c.*382_*387dup, XM_047448494.1:c.*381_*387dup, XM_047448494.1:c.*380_*387dup, XM_047448484.1:c.*378_*387del, XM_047448484.1:c.*379_*387del, XM_047448484.1:c.*383_*387del, XM_047448484.1:c.*384_*387del, XM_047448484.1:c.*385_*387del, XM_047448484.1:c.*386_*387del, XM_047448484.1:c.*387del, XM_047448484.1:c.*387dup, XM_047448484.1:c.*386_*387dup, XM_047448484.1:c.*382_*387dup, XM_047448484.1:c.*381_*387dup, XM_047448484.1:c.*380_*387dup, XM_047448498.1:c.*378_*387del, XM_047448498.1:c.*379_*387del, XM_047448498.1:c.*383_*387del, XM_047448498.1:c.*384_*387del, XM_047448498.1:c.*385_*387del, XM_047448498.1:c.*386_*387del, XM_047448498.1:c.*387del, XM_047448498.1:c.*387dup, XM_047448498.1:c.*386_*387dup, XM_047448498.1:c.*382_*387dup, XM_047448498.1:c.*381_*387dup, XM_047448498.1:c.*380_*387dup, XM_047448476.1:c.*378_*387del, XM_047448476.1:c.*379_*387del, XM_047448476.1:c.*383_*387del, XM_047448476.1:c.*384_*387del, XM_047448476.1:c.*385_*387del, XM_047448476.1:c.*386_*387del, XM_047448476.1:c.*387del, XM_047448476.1:c.*387dup, XM_047448476.1:c.*386_*387dup, XM_047448476.1:c.*382_*387dup, XM_047448476.1:c.*381_*387dup, XM_047448476.1:c.*380_*387dup, XM_047448472.1:c.*378_*387del, XM_047448472.1:c.*379_*387del, XM_047448472.1:c.*383_*387del, XM_047448472.1:c.*384_*387del, XM_047448472.1:c.*385_*387del, XM_047448472.1:c.*386_*387del, XM_047448472.1:c.*387del, XM_047448472.1:c.*387dup, XM_047448472.1:c.*386_*387dup, XM_047448472.1:c.*382_*387dup, XM_047448472.1:c.*381_*387dup, XM_047448472.1:c.*380_*387dup, XM_047448475.1:c.*378_*387del, XM_047448475.1:c.*379_*387del, XM_047448475.1:c.*383_*387del, XM_047448475.1:c.*384_*387del, XM_047448475.1:c.*385_*387del, XM_047448475.1:c.*386_*387del, XM_047448475.1:c.*387del, XM_047448475.1:c.*387dup, XM_047448475.1:c.*386_*387dup, XM_047448475.1:c.*382_*387dup, XM_047448475.1:c.*381_*387dup, XM_047448475.1:c.*380_*387dup, XM_047448473.1:c.*378_*387del, XM_047448473.1:c.*379_*387del, XM_047448473.1:c.*383_*387del, XM_047448473.1:c.*384_*387del, XM_047448473.1:c.*385_*387del, XM_047448473.1:c.*386_*387del, XM_047448473.1:c.*387del, XM_047448473.1:c.*387dup, XM_047448473.1:c.*386_*387dup, XM_047448473.1:c.*382_*387dup, XM_047448473.1:c.*381_*387dup, XM_047448473.1:c.*380_*387dup, XM_047448482.1:c.*378_*387del, XM_047448482.1:c.*379_*387del, XM_047448482.1:c.*383_*387del, XM_047448482.1:c.*384_*387del, XM_047448482.1:c.*385_*387del, XM_047448482.1:c.*386_*387del, XM_047448482.1:c.*387del, XM_047448482.1:c.*387dup, XM_047448482.1:c.*386_*387dup, XM_047448482.1:c.*382_*387dup, XM_047448482.1:c.*381_*387dup, XM_047448482.1:c.*380_*387dup, XM_047448489.1:c.*378_*387del, XM_047448489.1:c.*379_*387del, XM_047448489.1:c.*383_*387del, XM_047448489.1:c.*384_*387del, XM_047448489.1:c.*385_*387del, XM_047448489.1:c.*386_*387del, XM_047448489.1:c.*387del, XM_047448489.1:c.*387dup, XM_047448489.1:c.*386_*387dup, XM_047448489.1:c.*382_*387dup, XM_047448489.1:c.*381_*387dup, XM_047448489.1:c.*380_*387dup, XM_047448487.1:c.*378_*387del, XM_047448487.1:c.*379_*387del, XM_047448487.1:c.*383_*387del, XM_047448487.1:c.*384_*387del, XM_047448487.1:c.*385_*387del, XM_047448487.1:c.*386_*387del, XM_047448487.1:c.*387del, XM_047448487.1:c.*387dup, XM_047448487.1:c.*386_*387dup, XM_047448487.1:c.*382_*387dup, XM_047448487.1:c.*381_*387dup, XM_047448487.1:c.*380_*387dup, XM_047448496.1:c.*378_*387del, XM_047448496.1:c.*379_*387del, XM_047448496.1:c.*383_*387del, XM_047448496.1:c.*384_*387del, XM_047448496.1:c.*385_*387del, XM_047448496.1:c.*386_*387del, XM_047448496.1:c.*387del, XM_047448496.1:c.*387dup, XM_047448496.1:c.*386_*387dup, XM_047448496.1:c.*382_*387dup, XM_047448496.1:c.*381_*387dup, XM_047448496.1:c.*380_*387dup, XM_047448474.1:c.*378_*387del, XM_047448474.1:c.*379_*387del, XM_047448474.1:c.*383_*387del, XM_047448474.1:c.*384_*387del, XM_047448474.1:c.*385_*387del, XM_047448474.1:c.*386_*387del, XM_047448474.1:c.*387del, XM_047448474.1:c.*387dup, XM_047448474.1:c.*386_*387dup, XM_047448474.1:c.*382_*387dup, XM_047448474.1:c.*381_*387dup, XM_047448474.1:c.*380_*387dup, XM_047448479.1:c.*378_*387del, XM_047448479.1:c.*379_*387del, XM_047448479.1:c.*383_*387del, XM_047448479.1:c.*384_*387del, XM_047448479.1:c.*385_*387del, XM_047448479.1:c.*386_*387del, XM_047448479.1:c.*387del, XM_047448479.1:c.*387dup, XM_047448479.1:c.*386_*387dup, XM_047448479.1:c.*382_*387dup, XM_047448479.1:c.*381_*387dup, XM_047448479.1:c.*380_*387dup, XM_047448481.1:c.*378_*387del, XM_047448481.1:c.*379_*387del, XM_047448481.1:c.*383_*387del, XM_047448481.1:c.*384_*387del, XM_047448481.1:c.*385_*387del, XM_047448481.1:c.*386_*387del, XM_047448481.1:c.*387del, XM_047448481.1:c.*387dup, XM_047448481.1:c.*386_*387dup, XM_047448481.1:c.*382_*387dup, XM_047448481.1:c.*381_*387dup, XM_047448481.1:c.*380_*387dup, XM_047448480.1:c.*378_*387del, XM_047448480.1:c.*379_*387del, XM_047448480.1:c.*383_*387del, XM_047448480.1:c.*384_*387del, XM_047448480.1:c.*385_*387del, XM_047448480.1:c.*386_*387del, XM_047448480.1:c.*387del, XM_047448480.1:c.*387dup, XM_047448480.1:c.*386_*387dup, XM_047448480.1:c.*382_*387dup, XM_047448480.1:c.*381_*387dup, XM_047448480.1:c.*380_*387dup, XM_047448490.1:c.*378_*387del, XM_047448490.1:c.*379_*387del, XM_047448490.1:c.*383_*387del, XM_047448490.1:c.*384_*387del, XM_047448490.1:c.*385_*387del, XM_047448490.1:c.*386_*387del, XM_047448490.1:c.*387del, XM_047448490.1:c.*387dup, XM_047448490.1:c.*386_*387dup, XM_047448490.1:c.*382_*387dup, XM_047448490.1:c.*381_*387dup, XM_047448490.1:c.*380_*387dup, XM_047448488.1:c.*378_*387del, XM_047448488.1:c.*379_*387del, XM_047448488.1:c.*383_*387del, XM_047448488.1:c.*384_*387del, XM_047448488.1:c.*385_*387del, XM_047448488.1:c.*386_*387del, XM_047448488.1:c.*387del, XM_047448488.1:c.*387dup, XM_047448488.1:c.*386_*387dup, XM_047448488.1:c.*382_*387dup, XM_047448488.1:c.*381_*387dup, XM_047448488.1:c.*380_*387dup, XM_047448492.1:c.*378_*387del, XM_047448492.1:c.*379_*387del, XM_047448492.1:c.*383_*387del, XM_047448492.1:c.*384_*387del, XM_047448492.1:c.*385_*387del, XM_047448492.1:c.*386_*387del, XM_047448492.1:c.*387del, XM_047448492.1:c.*387dup, XM_047448492.1:c.*386_*387dup, XM_047448492.1:c.*382_*387dup, XM_047448492.1:c.*381_*387dup, XM_047448492.1:c.*380_*387dup, XM_047448497.1:c.*378_*387del, XM_047448497.1:c.*379_*387del, XM_047448497.1:c.*383_*387del, XM_047448497.1:c.*384_*387del, XM_047448497.1:c.*385_*387del, XM_047448497.1:c.*386_*387del, XM_047448497.1:c.*387del, XM_047448497.1:c.*387dup, XM_047448497.1:c.*386_*387dup, XM_047448497.1:c.*382_*387dup, XM_047448497.1:c.*381_*387dup, XM_047448497.1:c.*380_*387dup, XM_047448493.1:c.*378_*387del, XM_047448493.1:c.*379_*387del, XM_047448493.1:c.*383_*387del, XM_047448493.1:c.*384_*387del, XM_047448493.1:c.*385_*387del, XM_047448493.1:c.*386_*387del, XM_047448493.1:c.*387del, XM_047448493.1:c.*387dup, XM_047448493.1:c.*386_*387dup, XM_047448493.1:c.*382_*387dup, XM_047448493.1:c.*381_*387dup, XM_047448493.1:c.*380_*387dup, XM_047448499.1:c.*378_*387del, XM_047448499.1:c.*379_*387del, XM_047448499.1:c.*383_*387del, XM_047448499.1:c.*384_*387del, XM_047448499.1:c.*385_*387del, XM_047448499.1:c.*386_*387del, XM_047448499.1:c.*387del, XM_047448499.1:c.*387dup, XM_047448499.1:c.*386_*387dup, XM_047448499.1:c.*382_*387dup, XM_047448499.1:c.*381_*387dup, XM_047448499.1:c.*380_*387dup

          5.

          rs1491487037 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            3:9445964 (GRCh38)
            3:9487649 (GRCh37)
            Canonical SPDI:
            NC_000003.12:9445964:G:GG
            Gene:
            SETD5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            G=0.000036/1 (TOMMO)
            G=0.003954/513 (GnomAD)
            HGVS:

            6.

            rs1491467872 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              3:9466287 (GRCh38)
              3:9507971 (GRCh37)
              Canonical SPDI:
              NC_000003.12:9466286:CA:
              Gene:
              SETD5 (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00084/10 (ALFA)
              HGVS:

              7.

              rs1491465940 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GA>- [Show Flanks]
                Chromosome:
                3:9435266 (GRCh38)
                3:9476950 (GRCh37)
                Canonical SPDI:
                NC_000003.12:9435264:AGA:A
                Gene:
                SETD5 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0./0 (ALFA)
                -=0.00142/24 (TOMMO)
                HGVS:

                8.

                rs1491446208 has merged into rs6147703 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                  Chromosome:
                  3:9437535 (GRCh38)
                  3:9479219 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9437522:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                  Gene:
                  SETD5 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GTGTGTGTGTGT=0./0 (ALFA)
                  GT=0.11402/571 (1000Genomes)
                  HGVS:
                  NC_000003.12:g.9437523GT[6], NC_000003.12:g.9437523GT[7], NC_000003.12:g.9437523GT[8], NC_000003.12:g.9437523GT[9], NC_000003.12:g.9437523GT[10], NC_000003.12:g.9437523GT[11], NC_000003.12:g.9437523GT[12], NC_000003.12:g.9437523GT[13], NC_000003.12:g.9437523GT[15], NC_000003.12:g.9437523GT[16], NC_000003.12:g.9437523GT[17], NC_000003.12:g.9437523GT[18], NC_000003.12:g.9437523GT[19], NC_000003.12:g.9437523GT[20], NC_000003.12:g.9437523GT[21], NC_000003.12:g.9437523GT[22], NC_000003.12:g.9437523GT[23], NC_000003.12:g.9437523GT[24], NC_000003.12:g.9437523GT[25], NC_000003.12:g.9437523GT[26], NC_000003.12:g.9437523GT[27], NC_000003.12:g.9437523GT[28], NC_000003.12:g.9437523GT[29], NC_000003.12:g.9437523GT[30], NC_000003.12:g.9437523GT[31], NC_000003.11:g.9479207GT[6], NC_000003.11:g.9479207GT[7], NC_000003.11:g.9479207GT[8], NC_000003.11:g.9479207GT[9], NC_000003.11:g.9479207GT[10], NC_000003.11:g.9479207GT[11], NC_000003.11:g.9479207GT[12], NC_000003.11:g.9479207GT[13], NC_000003.11:g.9479207GT[15], NC_000003.11:g.9479207GT[16], NC_000003.11:g.9479207GT[17], NC_000003.11:g.9479207GT[18], NC_000003.11:g.9479207GT[19], NC_000003.11:g.9479207GT[20], NC_000003.11:g.9479207GT[21], NC_000003.11:g.9479207GT[22], NC_000003.11:g.9479207GT[23], NC_000003.11:g.9479207GT[24], NC_000003.11:g.9479207GT[25], NC_000003.11:g.9479207GT[26], NC_000003.11:g.9479207GT[27], NC_000003.11:g.9479207GT[28], NC_000003.11:g.9479207GT[29], NC_000003.11:g.9479207GT[30], NC_000003.11:g.9479207GT[31], NG_034132.1:g.44824GT[6], NG_034132.1:g.44824GT[7], NG_034132.1:g.44824GT[8], NG_034132.1:g.44824GT[9], NG_034132.1:g.44824GT[10], NG_034132.1:g.44824GT[11], NG_034132.1:g.44824GT[12], NG_034132.1:g.44824GT[13], NG_034132.1:g.44824GT[15], NG_034132.1:g.44824GT[16], NG_034132.1:g.44824GT[17], NG_034132.1:g.44824GT[18], NG_034132.1:g.44824GT[19], NG_034132.1:g.44824GT[20], NG_034132.1:g.44824GT[21], NG_034132.1:g.44824GT[22], NG_034132.1:g.44824GT[23], NG_034132.1:g.44824GT[24], NG_034132.1:g.44824GT[25], NG_034132.1:g.44824GT[26], NG_034132.1:g.44824GT[27], NG_034132.1:g.44824GT[28], NG_034132.1:g.44824GT[29], NG_034132.1:g.44824GT[30], NG_034132.1:g.44824GT[31]

                  9.

                  rs1491433933 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    3:9395871 (GRCh38)
                    3:9437556 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:9395871:A:AA
                    Gene:
                    SETD5 (Varview), THUMPD3-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000004/1 (TOPMED)
                    HGVS:

                    10.

                    rs1491371917 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->GT [Show Flanks]
                      Chromosome:
                      3:9445966 (GRCh38)
                      3:9487651 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:9445966:T:TGT
                      Gene:
                      SETD5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      TGT=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491371580 has merged into rs539618589 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GG>-,G,GGG,GGGG,GGGGG [Show Flanks]
                        Chromosome:
                        3:9413649 (GRCh38)
                        3:9455333 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:9413646:GGGG:GG,NC_000003.12:9413646:GGGG:GGG,NC_000003.12:9413646:GGGG:GGGGG,NC_000003.12:9413646:GGGG:GGGGGG,NC_000003.12:9413646:GGGG:GGGGGGG
                        Gene:
                        SETD5 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GGGGGG=0./0 (ALFA)
                        -=0.00064/11 (TOMMO)
                        -=0.00109/2 (Korea1K)
                        HGVS:

                        12.

                        rs1491307139 has merged into rs1164278885 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                          Chromosome:
                          3:9452671 (GRCh38)
                          3:9494355 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9452659:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          Gene:
                          SETD5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TTTTTTTTTTT=0./0 (ALFA)
                          HGVS:
                          NC_000003.12:g.9452671_9452684del, NC_000003.12:g.9452673_9452684del, NC_000003.12:g.9452674_9452684del, NC_000003.12:g.9452675_9452684del, NC_000003.12:g.9452676_9452684del, NC_000003.12:g.9452677_9452684del, NC_000003.12:g.9452678_9452684del, NC_000003.12:g.9452679_9452684del, NC_000003.12:g.9452680_9452684del, NC_000003.12:g.9452681_9452684del, NC_000003.12:g.9452682_9452684del, NC_000003.12:g.9452683_9452684del, NC_000003.12:g.9452684del, NC_000003.12:g.9452684dup, NC_000003.12:g.9452683_9452684dup, NC_000003.12:g.9452682_9452684dup, NC_000003.12:g.9452681_9452684dup, NC_000003.12:g.9452680_9452684dup, NC_000003.12:g.9452660_9452684T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.9452679_9452684dup, NC_000003.12:g.9452678_9452684dup, NC_000003.12:g.9452677_9452684dup, NC_000003.12:g.9452660_9452684T[33]A[4]T[30], NC_000003.12:g.9452660_9452684T[33]AT[2]T[31], NC_000003.12:g.9452675_9452684dup, NC_000003.12:g.9452674_9452684dup, NC_000003.12:g.9452673_9452684dup, NC_000003.12:g.9452672_9452684dup, NC_000003.12:g.9452671_9452684dup, NC_000003.12:g.9452670_9452684dup, NC_000003.12:g.9452669_9452684dup, NC_000003.12:g.9452666_9452684dup, NC_000003.12:g.9452665_9452684dup, NC_000003.12:g.9452664_9452684dup, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9452684_9452685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494355_9494368del, NC_000003.11:g.9494357_9494368del, NC_000003.11:g.9494358_9494368del, NC_000003.11:g.9494359_9494368del, NC_000003.11:g.9494360_9494368del, NC_000003.11:g.9494361_9494368del, NC_000003.11:g.9494362_9494368del, NC_000003.11:g.9494363_9494368del, NC_000003.11:g.9494364_9494368del, NC_000003.11:g.9494365_9494368del, NC_000003.11:g.9494366_9494368del, NC_000003.11:g.9494367_9494368del, NC_000003.11:g.9494368del, NC_000003.11:g.9494368dup, NC_000003.11:g.9494367_9494368dup, NC_000003.11:g.9494366_9494368dup, NC_000003.11:g.9494365_9494368dup, NC_000003.11:g.9494364_9494368dup, NC_000003.11:g.9494344_9494368T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.9494363_9494368dup, NC_000003.11:g.9494362_9494368dup, NC_000003.11:g.9494361_9494368dup, NC_000003.11:g.9494344_9494368T[33]A[4]T[30], NC_000003.11:g.9494344_9494368T[33]AT[2]T[31], NC_000003.11:g.9494359_9494368dup, NC_000003.11:g.9494358_9494368dup, NC_000003.11:g.9494357_9494368dup, NC_000003.11:g.9494356_9494368dup, NC_000003.11:g.9494355_9494368dup, NC_000003.11:g.9494354_9494368dup, NC_000003.11:g.9494353_9494368dup, NC_000003.11:g.9494350_9494368dup, NC_000003.11:g.9494349_9494368dup, NC_000003.11:g.9494348_9494368dup, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9494368_9494369insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59972_59985del, NG_034132.1:g.59974_59985del, NG_034132.1:g.59975_59985del, NG_034132.1:g.59976_59985del, NG_034132.1:g.59977_59985del, NG_034132.1:g.59978_59985del, NG_034132.1:g.59979_59985del, NG_034132.1:g.59980_59985del, NG_034132.1:g.59981_59985del, NG_034132.1:g.59982_59985del, NG_034132.1:g.59983_59985del, NG_034132.1:g.59984_59985del, NG_034132.1:g.59985del, NG_034132.1:g.59985dup, NG_034132.1:g.59984_59985dup, NG_034132.1:g.59983_59985dup, NG_034132.1:g.59982_59985dup, NG_034132.1:g.59981_59985dup, NG_034132.1:g.59961_59985T[30]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034132.1:g.59980_59985dup, NG_034132.1:g.59979_59985dup, NG_034132.1:g.59978_59985dup, NG_034132.1:g.59961_59985T[33]A[4]T[30], NG_034132.1:g.59961_59985T[33]AT[2]T[31], NG_034132.1:g.59976_59985dup, NG_034132.1:g.59975_59985dup, NG_034132.1:g.59974_59985dup, NG_034132.1:g.59973_59985dup, NG_034132.1:g.59972_59985dup, NG_034132.1:g.59971_59985dup, NG_034132.1:g.59970_59985dup, NG_034132.1:g.59967_59985dup, NG_034132.1:g.59966_59985dup, NG_034132.1:g.59965_59985dup, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.59985_59986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                          13.

                          rs1491284486 has merged into rs1160123997 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                            Chromosome:
                            3:9413662 (GRCh38)
                            3:9455346 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:9413649:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                            Gene:
                            SETD5 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GTGTGTGTGTGT=0./0 (ALFA)
                            GT=0.4736/1756 (TWINSUK)
                            GT=0.4806/2407 (1000Genomes)
                            GT=0.4904/1890 (ALSPAC)
                            HGVS:
                            NC_000003.12:g.9413650GT[6], NC_000003.12:g.9413650GT[7], NC_000003.12:g.9413650GT[9], NC_000003.12:g.9413650GT[10], NC_000003.12:g.9413650GT[11], NC_000003.12:g.9413650GT[12], NC_000003.12:g.9413650GT[13], NC_000003.12:g.9413650GT[14], NC_000003.12:g.9413650GT[15], NC_000003.12:g.9413650GT[16], NC_000003.12:g.9413650GT[17], NC_000003.12:g.9413650GT[19], NC_000003.12:g.9413650GT[20], NC_000003.12:g.9413650GT[21], NC_000003.12:g.9413650GT[22], NC_000003.12:g.9413650GT[23], NC_000003.12:g.9413650GT[24], NC_000003.12:g.9413650GT[25], NC_000003.12:g.9413650GT[26], NC_000003.12:g.9413650GT[28], NC_000003.12:g.9413650GT[29], NC_000003.11:g.9455334GT[6], NC_000003.11:g.9455334GT[7], NC_000003.11:g.9455334GT[9], NC_000003.11:g.9455334GT[10], NC_000003.11:g.9455334GT[11], NC_000003.11:g.9455334GT[12], NC_000003.11:g.9455334GT[13], NC_000003.11:g.9455334GT[14], NC_000003.11:g.9455334GT[15], NC_000003.11:g.9455334GT[16], NC_000003.11:g.9455334GT[17], NC_000003.11:g.9455334GT[19], NC_000003.11:g.9455334GT[20], NC_000003.11:g.9455334GT[21], NC_000003.11:g.9455334GT[22], NC_000003.11:g.9455334GT[23], NC_000003.11:g.9455334GT[24], NC_000003.11:g.9455334GT[25], NC_000003.11:g.9455334GT[26], NC_000003.11:g.9455334GT[28], NC_000003.11:g.9455334GT[29], NG_034132.1:g.20951GT[6], NG_034132.1:g.20951GT[7], NG_034132.1:g.20951GT[9], NG_034132.1:g.20951GT[10], NG_034132.1:g.20951GT[11], NG_034132.1:g.20951GT[12], NG_034132.1:g.20951GT[13], NG_034132.1:g.20951GT[14], NG_034132.1:g.20951GT[15], NG_034132.1:g.20951GT[16], NG_034132.1:g.20951GT[17], NG_034132.1:g.20951GT[19], NG_034132.1:g.20951GT[20], NG_034132.1:g.20951GT[21], NG_034132.1:g.20951GT[22], NG_034132.1:g.20951GT[23], NG_034132.1:g.20951GT[24], NG_034132.1:g.20951GT[25], NG_034132.1:g.20951GT[26], NG_034132.1:g.20951GT[28], NG_034132.1:g.20951GT[29]

                            14.

                            rs1491268406 has merged into rs376821559 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              3:9445976 (GRCh38)
                              3:9487660 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:9445965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              SETD5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              NC_000003.12:g.9445976_9445988del, NC_000003.12:g.9445977_9445988del, NC_000003.12:g.9445978_9445988del, NC_000003.12:g.9445979_9445988del, NC_000003.12:g.9445980_9445988del, NC_000003.12:g.9445982_9445988del, NC_000003.12:g.9445983_9445988del, NC_000003.12:g.9445984_9445988del, NC_000003.12:g.9445985_9445988del, NC_000003.12:g.9445986_9445988del, NC_000003.12:g.9445987_9445988del, NC_000003.12:g.9445988del, NC_000003.12:g.9445988dup, NC_000003.12:g.9445987_9445988dup, NC_000003.12:g.9445986_9445988dup, NC_000003.12:g.9445985_9445988dup, NC_000003.12:g.9445984_9445988dup, NC_000003.12:g.9445983_9445988dup, NC_000003.12:g.9445982_9445988dup, NC_000003.12:g.9445981_9445988dup, NC_000003.12:g.9445980_9445988dup, NC_000003.12:g.9445979_9445988dup, NC_000003.12:g.9445978_9445988dup, NC_000003.12:g.9445977_9445988dup, NC_000003.12:g.9445976_9445988dup, NC_000003.12:g.9445975_9445988dup, NC_000003.12:g.9445974_9445988dup, NC_000003.12:g.9445973_9445988dup, NC_000003.12:g.9445972_9445988dup, NC_000003.12:g.9445971_9445988dup, NC_000003.12:g.9445970_9445988dup, NC_000003.12:g.9445969_9445988dup, NC_000003.12:g.9445968_9445988dup, NC_000003.12:g.9445967_9445988dup, NC_000003.12:g.9445966_9445988dup, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445988_9445989insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.9445966_9445988T[58]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.9487660_9487672del, NC_000003.11:g.9487661_9487672del, NC_000003.11:g.9487662_9487672del, NC_000003.11:g.9487663_9487672del, NC_000003.11:g.9487664_9487672del, NC_000003.11:g.9487666_9487672del, NC_000003.11:g.9487667_9487672del, NC_000003.11:g.9487668_9487672del, NC_000003.11:g.9487669_9487672del, NC_000003.11:g.9487670_9487672del, NC_000003.11:g.9487671_9487672del, NC_000003.11:g.9487672del, NC_000003.11:g.9487672dup, NC_000003.11:g.9487671_9487672dup, NC_000003.11:g.9487670_9487672dup, NC_000003.11:g.9487669_9487672dup, NC_000003.11:g.9487668_9487672dup, NC_000003.11:g.9487667_9487672dup, NC_000003.11:g.9487666_9487672dup, NC_000003.11:g.9487665_9487672dup, NC_000003.11:g.9487664_9487672dup, NC_000003.11:g.9487663_9487672dup, NC_000003.11:g.9487662_9487672dup, NC_000003.11:g.9487661_9487672dup, NC_000003.11:g.9487660_9487672dup, NC_000003.11:g.9487659_9487672dup, NC_000003.11:g.9487658_9487672dup, NC_000003.11:g.9487657_9487672dup, NC_000003.11:g.9487656_9487672dup, NC_000003.11:g.9487655_9487672dup, NC_000003.11:g.9487654_9487672dup, NC_000003.11:g.9487653_9487672dup, NC_000003.11:g.9487652_9487672dup, NC_000003.11:g.9487651_9487672dup, NC_000003.11:g.9487650_9487672dup, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487672_9487673insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.9487650_9487672T[58]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_034132.1:g.53277_53289del, NG_034132.1:g.53278_53289del, NG_034132.1:g.53279_53289del, NG_034132.1:g.53280_53289del, NG_034132.1:g.53281_53289del, NG_034132.1:g.53283_53289del, NG_034132.1:g.53284_53289del, NG_034132.1:g.53285_53289del, NG_034132.1:g.53286_53289del, NG_034132.1:g.53287_53289del, NG_034132.1:g.53288_53289del, NG_034132.1:g.53289del, NG_034132.1:g.53289dup, NG_034132.1:g.53288_53289dup, NG_034132.1:g.53287_53289dup, NG_034132.1:g.53286_53289dup, NG_034132.1:g.53285_53289dup, NG_034132.1:g.53284_53289dup, NG_034132.1:g.53283_53289dup, NG_034132.1:g.53282_53289dup, NG_034132.1:g.53281_53289dup, NG_034132.1:g.53280_53289dup, NG_034132.1:g.53279_53289dup, NG_034132.1:g.53278_53289dup, NG_034132.1:g.53277_53289dup, NG_034132.1:g.53276_53289dup, NG_034132.1:g.53275_53289dup, NG_034132.1:g.53274_53289dup, NG_034132.1:g.53273_53289dup, NG_034132.1:g.53272_53289dup, NG_034132.1:g.53271_53289dup, NG_034132.1:g.53270_53289dup, NG_034132.1:g.53269_53289dup, NG_034132.1:g.53268_53289dup, NG_034132.1:g.53267_53289dup, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53289_53290insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_034132.1:g.53267_53289T[58]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

                              15.

                              rs1491218958 has merged into rs34355371 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                C>-,CC,CCC [Show Flanks]
                                Chromosome:
                                3:9417498 (GRCh38)
                                3:9459182 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:9417497:CCCCCC:CCCCC,NC_000003.12:9417497:CCCCCC:CCCCCCC,NC_000003.12:9417497:CCCCCC:CCCCCCCC
                                Gene:
                                SETD5 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCCCCCCC=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491217239 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  3:9467199 (GRCh38)
                                  3:9508883 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:9467198:CA:
                                  Gene:
                                  SETD5 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1491209767 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->G [Show Flanks]
                                    Chromosome:
                                    3:9435265 (GRCh38)
                                    3:9476950 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:9435265:G:GG
                                    Gene:
                                    SETD5 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GG=0./0 (ALFA)
                                    G=0.000096/13 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491189294 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      3:9446286 (GRCh38)
                                      3:9487970 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:9446285:CA:
                                      Gene:
                                      SETD5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      -=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1491175759 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        3:9435243 (GRCh38)
                                        3:9476927 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:9435242:CA:
                                        Gene:
                                        SETD5 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00017/2 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491116063 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->T [Show Flanks]
                                          Chromosome:
                                          3:9414385 (GRCh38)
                                          3:9456070 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:9414385:T:TT
                                          Gene:
                                          SETD5 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          TT=0./0 (ALFA)
                                          T=0.000023/6 (TOPMED)
                                          T=0.000029/4 (GnomAD)
                                          HGVS:

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