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1.

rs1491379148 has merged into rs556362145 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    10:80347287 (GRCh38)
    10:82107043 (GRCh37)
    Canonical SPDI:
    NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80347276:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    DYDC2 (Varview), DYDC1 (Varview)
    Functional Consequence:
    intron_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    TTTTTTTTTTT=0./0 (GENOME_DK)
    HGVS:
    NC_000010.11:g.80347287_80347305del, NC_000010.11:g.80347288_80347305del, NC_000010.11:g.80347289_80347305del, NC_000010.11:g.80347290_80347305del, NC_000010.11:g.80347291_80347305del, NC_000010.11:g.80347292_80347305del, NC_000010.11:g.80347293_80347305del, NC_000010.11:g.80347294_80347305del, NC_000010.11:g.80347295_80347305del, NC_000010.11:g.80347296_80347305del, NC_000010.11:g.80347297_80347305del, NC_000010.11:g.80347298_80347305del, NC_000010.11:g.80347299_80347305del, NC_000010.11:g.80347300_80347305del, NC_000010.11:g.80347301_80347305del, NC_000010.11:g.80347302_80347305del, NC_000010.11:g.80347303_80347305del, NC_000010.11:g.80347304_80347305del, NC_000010.11:g.80347305del, NC_000010.11:g.80347305dup, NC_000010.11:g.80347304_80347305dup, NC_000010.11:g.80347303_80347305dup, NC_000010.11:g.80347302_80347305dup, NC_000010.11:g.80347301_80347305dup, NC_000010.11:g.80347300_80347305dup, NC_000010.11:g.80347299_80347305dup, NC_000010.11:g.80347298_80347305dup, NC_000010.11:g.80347277_80347305T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.11:g.80347297_80347305dup, NC_000010.11:g.80347296_80347305dup, NC_000010.11:g.80347295_80347305dup, NC_000010.11:g.80347294_80347305dup, NC_000010.11:g.80347293_80347305dup, NC_000010.11:g.80347292_80347305dup, NC_000010.11:g.80347291_80347305dup, NC_000010.11:g.80347290_80347305dup, NC_000010.11:g.80347289_80347305dup, NC_000010.11:g.80347287_80347305dup, NC_000010.11:g.80347286_80347305dup, NC_000010.11:g.80347284_80347305dup, NC_000010.11:g.80347283_80347305dup, NC_000010.11:g.80347281_80347305dup, NC_000010.11:g.80347280_80347305dup, NC_000010.11:g.80347279_80347305dup, NC_000010.11:g.80347278_80347305dup, NC_000010.11:g.80347277_80347305dup, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80347305_80347306insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107043_82107061del, NC_000010.10:g.82107044_82107061del, NC_000010.10:g.82107045_82107061del, NC_000010.10:g.82107046_82107061del, NC_000010.10:g.82107047_82107061del, NC_000010.10:g.82107048_82107061del, NC_000010.10:g.82107049_82107061del, NC_000010.10:g.82107050_82107061del, NC_000010.10:g.82107051_82107061del, NC_000010.10:g.82107052_82107061del, NC_000010.10:g.82107053_82107061del, NC_000010.10:g.82107054_82107061del, NC_000010.10:g.82107055_82107061del, NC_000010.10:g.82107056_82107061del, NC_000010.10:g.82107057_82107061del, NC_000010.10:g.82107058_82107061del, NC_000010.10:g.82107059_82107061del, NC_000010.10:g.82107060_82107061del, NC_000010.10:g.82107061del, NC_000010.10:g.82107061dup, NC_000010.10:g.82107060_82107061dup, NC_000010.10:g.82107059_82107061dup, NC_000010.10:g.82107058_82107061dup, NC_000010.10:g.82107057_82107061dup, NC_000010.10:g.82107056_82107061dup, NC_000010.10:g.82107055_82107061dup, NC_000010.10:g.82107054_82107061dup, NC_000010.10:g.82107033_82107061T[37]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000010.10:g.82107053_82107061dup, NC_000010.10:g.82107052_82107061dup, NC_000010.10:g.82107051_82107061dup, NC_000010.10:g.82107050_82107061dup, NC_000010.10:g.82107049_82107061dup, NC_000010.10:g.82107048_82107061dup, NC_000010.10:g.82107047_82107061dup, NC_000010.10:g.82107046_82107061dup, NC_000010.10:g.82107045_82107061dup, NC_000010.10:g.82107043_82107061dup, NC_000010.10:g.82107042_82107061dup, NC_000010.10:g.82107040_82107061dup, NC_000010.10:g.82107039_82107061dup, NC_000010.10:g.82107037_82107061dup, NC_000010.10:g.82107036_82107061dup, NC_000010.10:g.82107035_82107061dup, NC_000010.10:g.82107034_82107061dup, NC_000010.10:g.82107033_82107061dup, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82107061_82107062insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    2.

    rs1491339728 has merged into rs1032729095 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      10:80346451 (GRCh38)
      10:82106207 (GRCh37)
      Canonical SPDI:
      NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80346444:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      DYDC2 (Varview), DYDC1 (Varview)
      Functional Consequence:
      intron_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000010.11:g.80346451_80346471del, NC_000010.11:g.80346455_80346471del, NC_000010.11:g.80346456_80346471del, NC_000010.11:g.80346457_80346471del, NC_000010.11:g.80346458_80346471del, NC_000010.11:g.80346459_80346471del, NC_000010.11:g.80346460_80346471del, NC_000010.11:g.80346461_80346471del, NC_000010.11:g.80346462_80346471del, NC_000010.11:g.80346463_80346471del, NC_000010.11:g.80346464_80346471del, NC_000010.11:g.80346465_80346471del, NC_000010.11:g.80346466_80346471del, NC_000010.11:g.80346467_80346471del, NC_000010.11:g.80346468_80346471del, NC_000010.11:g.80346469_80346471del, NC_000010.11:g.80346470_80346471del, NC_000010.11:g.80346471del, NC_000010.11:g.80346471dup, NC_000010.11:g.80346470_80346471dup, NC_000010.11:g.80346469_80346471dup, NC_000010.11:g.80346468_80346471dup, NC_000010.11:g.80346467_80346471dup, NC_000010.11:g.80346466_80346471dup, NC_000010.11:g.80346465_80346471dup, NC_000010.11:g.80346464_80346471dup, NC_000010.11:g.80346463_80346471dup, NC_000010.11:g.80346462_80346471dup, NC_000010.11:g.80346461_80346471dup, NC_000010.11:g.80346460_80346471dup, NC_000010.11:g.80346459_80346471dup, NC_000010.11:g.80346458_80346471dup, NC_000010.11:g.80346457_80346471dup, NC_000010.11:g.80346456_80346471dup, NC_000010.11:g.80346455_80346471dup, NC_000010.11:g.80346454_80346471dup, NC_000010.11:g.80346453_80346471dup, NC_000010.11:g.80346452_80346471dup, NC_000010.11:g.80346451_80346471dup, NC_000010.11:g.80346448_80346471dup, NC_000010.11:g.80346447_80346471dup, NC_000010.11:g.80346446_80346471dup, NC_000010.11:g.80346445_80346471dup, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.11:g.80346471_80346472insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106207_82106227del, NC_000010.10:g.82106211_82106227del, NC_000010.10:g.82106212_82106227del, NC_000010.10:g.82106213_82106227del, NC_000010.10:g.82106214_82106227del, NC_000010.10:g.82106215_82106227del, NC_000010.10:g.82106216_82106227del, NC_000010.10:g.82106217_82106227del, NC_000010.10:g.82106218_82106227del, NC_000010.10:g.82106219_82106227del, NC_000010.10:g.82106220_82106227del, NC_000010.10:g.82106221_82106227del, NC_000010.10:g.82106222_82106227del, NC_000010.10:g.82106223_82106227del, NC_000010.10:g.82106224_82106227del, NC_000010.10:g.82106225_82106227del, NC_000010.10:g.82106226_82106227del, NC_000010.10:g.82106227del, NC_000010.10:g.82106227dup, NC_000010.10:g.82106226_82106227dup, NC_000010.10:g.82106225_82106227dup, NC_000010.10:g.82106224_82106227dup, NC_000010.10:g.82106223_82106227dup, NC_000010.10:g.82106222_82106227dup, NC_000010.10:g.82106221_82106227dup, NC_000010.10:g.82106220_82106227dup, NC_000010.10:g.82106219_82106227dup, NC_000010.10:g.82106218_82106227dup, NC_000010.10:g.82106217_82106227dup, NC_000010.10:g.82106216_82106227dup, NC_000010.10:g.82106215_82106227dup, NC_000010.10:g.82106214_82106227dup, NC_000010.10:g.82106213_82106227dup, NC_000010.10:g.82106212_82106227dup, NC_000010.10:g.82106211_82106227dup, NC_000010.10:g.82106210_82106227dup, NC_000010.10:g.82106209_82106227dup, NC_000010.10:g.82106208_82106227dup, NC_000010.10:g.82106207_82106227dup, NC_000010.10:g.82106204_82106227dup, NC_000010.10:g.82106203_82106227dup, NC_000010.10:g.82106202_82106227dup, NC_000010.10:g.82106201_82106227dup, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.82106227_82106228insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491237302 has merged into rs60594545 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
        Chromosome:
        10:80342034 (GRCh38)
        10:82101790 (GRCh37)
        Canonical SPDI:
        NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:80342024:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
        Gene:
        DYDC1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        AAAAAAAAAAAAA=0./0 (ALFA)
        AA=0.1524/763 (1000Genomes)
        HGVS:
        NC_000010.11:g.80342034_80342043del, NC_000010.11:g.80342038_80342043del, NC_000010.11:g.80342039_80342043del, NC_000010.11:g.80342040_80342043del, NC_000010.11:g.80342041_80342043del, NC_000010.11:g.80342042_80342043del, NC_000010.11:g.80342043del, NC_000010.11:g.80342043dup, NC_000010.11:g.80342042_80342043dup, NC_000010.11:g.80342039_80342043dup, NC_000010.11:g.80342038_80342043dup, NC_000010.11:g.80342037_80342043dup, NC_000010.11:g.80342025_80342043dup, NC_000010.11:g.80342043_80342044insAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.82101790_82101799del, NC_000010.10:g.82101794_82101799del, NC_000010.10:g.82101795_82101799del, NC_000010.10:g.82101796_82101799del, NC_000010.10:g.82101797_82101799del, NC_000010.10:g.82101798_82101799del, NC_000010.10:g.82101799del, NC_000010.10:g.82101799dup, NC_000010.10:g.82101798_82101799dup, NC_000010.10:g.82101795_82101799dup, NC_000010.10:g.82101794_82101799dup, NC_000010.10:g.82101793_82101799dup, NC_000010.10:g.82101781_82101799dup, NC_000010.10:g.82101799_82101800insAAAAAAAAAAAAAAAAAAAA
        4.

        rs1491187247 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          ->GTTTTTTTTTTTTTTTTTTTTTTT
          Chromosome:
          no mapping
          Canonical SPDI:
          5.

          rs1491169839 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->CTTTTTTTTTTTTTTTTTTT
            Chromosome:
            no mapping
            Canonical SPDI:
            6.

            rs1490823263 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              10:80345050 (GRCh38)
              10:82104806 (GRCh37)
              Canonical SPDI:
              NC_000010.11:80345049:C:T
              Gene:
              DYDC2 (Varview), DYDC1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.00001/1 (GnomAD)
              HGVS:
              7.

              rs1490603230 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>- [Show Flanks]
                Chromosome:
                10:80358391 (GRCh38)
                10:82118147 (GRCh37)
                Canonical SPDI:
                NC_000010.11:80358390:AAAA:AAA
                Gene:
                DYDC2 (Varview), DYDC1 (Varview)
                Functional Consequence:
                upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAA=0./0 (ALFA)
                -=0.000011/3 (TOPMED)
                HGVS:
                8.

                rs1490508986 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  10:80335735 (GRCh38)
                  10:82095491 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:80335734:A:G
                  Gene:
                  DYDC1 (Varview)
                  Functional Consequence:
                  500B_downstream_variant,downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000004/1 (TOPMED)
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1490428782 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    10:80344816 (GRCh38)
                    10:82104572 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:80344815:G:A
                    Gene:
                    DYDC2 (Varview), DYDC1 (Varview)
                    Functional Consequence:
                    splice_donor_variant,intron_variant,genic_upstream_transcript_variant
                    HGVS:
                    10.

                    rs1490380368 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      10:80351398 (GRCh38)
                      10:82111154 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:80351397:A:G
                      Gene:
                      DYDC2 (Varview), DYDC1 (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000014/2 (GnomAD)
                      G=0.000019/5 (TOPMED)
                      HGVS:
                      11.

                      rs1490353272 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        10:80352660 (GRCh38)
                        10:82112416 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:80352659:A:G
                        Gene:
                        DYDC2 (Varview), DYDC1 (Varview)
                        Functional Consequence:
                        intron_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (TOPMED)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        12.

                        rs1489938750 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          10:80339084 (GRCh38)
                          10:82098840 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:80339083:T:C
                          Gene:
                          DYDC1 (Varview)
                          Functional Consequence:
                          intron_variant
                          HGVS:
                          13.

                          rs1489803637 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            10:80358140 (GRCh38)
                            10:82117896 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:80358139:G:A
                            Gene:
                            DYDC2 (Varview), DYDC1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            14.

                            rs1489778922 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              10:80358075 (GRCh38)
                              10:82117831 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:80358074:G:A
                              Gene:
                              DYDC2 (Varview), DYDC1 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,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:
                              15.

                              rs1489681241 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                ->ACCA [Show Flanks]
                                Chromosome:
                                10:80348682 (GRCh38)
                                10:82108439 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:80348682:CA:CAACCA
                                Gene:
                                DYDC2 (Varview), DYDC1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAACCA=0./0 (ALFA)
                                CAAC=0.000014/2 (GnomAD)
                                CAAC=0.000015/4 (TOPMED)
                                HGVS:
                                16.

                                rs1489494725 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  10:80337858 (GRCh38)
                                  10:82097614 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:80337857:G:A
                                  Gene:
                                  DYDC1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000011/3 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1489454612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:80341400 (GRCh38)
                                    10:82101156 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:80341399:G:A
                                    Gene:
                                    DYDC1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0.00008/1 (ALFA)
                                    HGVS:
                                    18.

                                    rs1489355082 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      10:80356762 (GRCh38)
                                      10:82116518 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:80356761:C:G
                                      Gene:
                                      DYDC2 (Varview), DYDC1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1489160399 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        10:80357405 (GRCh38)
                                        10:82117161 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:80357404:A:G
                                        Gene:
                                        DYDC2 (Varview), DYDC1 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1489040246 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CC [Show Flanks]
                                          Chromosome:
                                          10:80358088 (GRCh38)
                                          10:82117845 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:80358088:CCCC:CCCCCC
                                          Gene:
                                          DYDC2 (Varview), DYDC1 (Varview)
                                          Functional Consequence:
                                          upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          CCCCCC=0./0 (ALFA)
                                          HGVS:

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