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1.

rs1491586974 has merged into rs55872554 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
    Chromosome:
    Y:624398 (GRCh38)
    Y:535133 (GRCh37)
    Canonical SPDI:
    NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000024.10:624386:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
    Gene:
    SHOX (Varview)
    Functional Consequence:
    5_prime_UTR_variant,genic_upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.3605/1361 (1000Genomes)
    HGVS:
    NC_000024.10:g.624398_624399del, NC_000024.10:g.624399del, NC_000024.10:g.624399dup, NC_000024.10:g.624398_624399dup, NC_000024.10:g.624397_624399dup, NC_000024.10:g.624396_624399dup, NC_000024.9:g.535133_535134del, NC_000024.9:g.535134del, NC_000024.9:g.535134dup, NC_000024.9:g.535133_535134dup, NC_000024.9:g.535132_535134dup, NC_000024.9:g.535131_535134dup, NG_009385.2:g.5055_5056del, NG_009385.2:g.5056del, NG_009385.2:g.5056dup, NG_009385.2:g.5055_5056dup, NG_009385.2:g.5054_5056dup, NG_009385.2:g.5053_5056dup, NM_006883.2:c.-637_-636del, NM_006883.2:c.-636del, NM_006883.2:c.-636dup, NM_006883.2:c.-637_-636dup, NM_006883.2:c.-638_-636dup, NM_006883.2:c.-639_-636dup, NC_000023.11:g.624398_624399del, NC_000023.11:g.624399del, NC_000023.11:g.624399dup, NC_000023.11:g.624398_624399dup, NC_000023.11:g.624397_624399dup, NC_000023.11:g.624396_624399dup, NC_000023.10:g.585133_585134del, NC_000023.10:g.585134del, NC_000023.10:g.585134dup, NC_000023.10:g.585133_585134dup, NC_000023.10:g.585132_585134dup, NC_000023.10:g.585131_585134dup, NM_000451.3:c.-637_-636del, NM_000451.3:c.-636del, NM_000451.3:c.-636dup, NM_000451.3:c.-637_-636dup, NM_000451.3:c.-638_-636dup, NM_000451.3:c.-639_-636dup

    2.

    rs1491582668 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      Y:622598 (GRCh38)
      Y:533334 (GRCh37)
      Canonical SPDI:
      NC_000024.10:622598::G
      Gene:
      SHOX (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      G=0.000015/2 (GnomAD)
      HGVS:

      3.

      rs1491571249 has merged into rs1168989193 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        Y:645401 (GRCh38)
        Y:556136 (GRCh37)
        Canonical SPDI:
        NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000024.10:645390:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        SHOX (Varview)
        Functional Consequence:
        3_prime_UTR_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000024.10:g.645401_645423del, NC_000024.10:g.645402_645423del, NC_000024.10:g.645403_645423del, NC_000024.10:g.645404_645423del, NC_000024.10:g.645405_645423del, NC_000024.10:g.645406_645423del, NC_000024.10:g.645407_645423del, NC_000024.10:g.645408_645423del, NC_000024.10:g.645409_645423del, NC_000024.10:g.645410_645423del, NC_000024.10:g.645411_645423del, NC_000024.10:g.645412_645423del, NC_000024.10:g.645413_645423del, NC_000024.10:g.645414_645423del, NC_000024.10:g.645415_645423del, NC_000024.10:g.645416_645423del, NC_000024.10:g.645417_645423del, NC_000024.10:g.645418_645423del, NC_000024.10:g.645419_645423del, NC_000024.10:g.645420_645423del, NC_000024.10:g.645421_645423del, NC_000024.10:g.645422_645423del, NC_000024.10:g.645423del, NC_000024.10:g.645423dup, NC_000024.10:g.645422_645423dup, NC_000024.10:g.645421_645423dup, NC_000024.10:g.645420_645423dup, NC_000024.10:g.645419_645423dup, NC_000024.10:g.645418_645423dup, NC_000024.10:g.645417_645423dup, NC_000024.10:g.645416_645423dup, NC_000024.10:g.645415_645423dup, NC_000024.10:g.645414_645423dup, NC_000024.10:g.645413_645423dup, NC_000024.10:g.645412_645423dup, NC_000024.10:g.645411_645423dup, NC_000024.10:g.645410_645423dup, NC_000024.10:g.645409_645423dup, NC_000024.10:g.645408_645423dup, NC_000024.10:g.645407_645423dup, NC_000024.10:g.645406_645423dup, NC_000024.10:g.645405_645423dup, NC_000024.10:g.645404_645423dup, NC_000024.10:g.645403_645423dup, NC_000024.10:g.645402_645423dup, NC_000024.10:g.645401_645423dup, NC_000024.10:g.645399_645423dup, NC_000024.10:g.645395_645423dup, NC_000024.10:g.645391_645423dup, NC_000024.9:g.556136_556158del, NC_000024.9:g.556137_556158del, NC_000024.9:g.556138_556158del, NC_000024.9:g.556139_556158del, NC_000024.9:g.556140_556158del, NC_000024.9:g.556141_556158del, NC_000024.9:g.556142_556158del, NC_000024.9:g.556143_556158del, NC_000024.9:g.556144_556158del, NC_000024.9:g.556145_556158del, NC_000024.9:g.556146_556158del, NC_000024.9:g.556147_556158del, NC_000024.9:g.556148_556158del, NC_000024.9:g.556149_556158del, NC_000024.9:g.556150_556158del, NC_000024.9:g.556151_556158del, NC_000024.9:g.556152_556158del, NC_000024.9:g.556153_556158del, NC_000024.9:g.556154_556158del, NC_000024.9:g.556155_556158del, NC_000024.9:g.556156_556158del, NC_000024.9:g.556157_556158del, NC_000024.9:g.556158del, NC_000024.9:g.556158dup, NC_000024.9:g.556157_556158dup, NC_000024.9:g.556156_556158dup, NC_000024.9:g.556155_556158dup, NC_000024.9:g.556154_556158dup, NC_000024.9:g.556153_556158dup, NC_000024.9:g.556152_556158dup, NC_000024.9:g.556151_556158dup, NC_000024.9:g.556150_556158dup, NC_000024.9:g.556149_556158dup, NC_000024.9:g.556148_556158dup, NC_000024.9:g.556147_556158dup, NC_000024.9:g.556146_556158dup, NC_000024.9:g.556145_556158dup, NC_000024.9:g.556144_556158dup, NC_000024.9:g.556143_556158dup, NC_000024.9:g.556142_556158dup, NC_000024.9:g.556141_556158dup, NC_000024.9:g.556140_556158dup, NC_000024.9:g.556139_556158dup, NC_000024.9:g.556138_556158dup, NC_000024.9:g.556137_556158dup, NC_000024.9:g.556136_556158dup, NC_000024.9:g.556134_556158dup, NC_000024.9:g.556130_556158dup, NC_000024.9:g.556126_556158dup, NG_009385.2:g.26058_26080del, NG_009385.2:g.26059_26080del, NG_009385.2:g.26060_26080del, NG_009385.2:g.26061_26080del, NG_009385.2:g.26062_26080del, NG_009385.2:g.26063_26080del, NG_009385.2:g.26064_26080del, NG_009385.2:g.26065_26080del, NG_009385.2:g.26066_26080del, NG_009385.2:g.26067_26080del, NG_009385.2:g.26068_26080del, NG_009385.2:g.26069_26080del, NG_009385.2:g.26070_26080del, NG_009385.2:g.26071_26080del, NG_009385.2:g.26072_26080del, NG_009385.2:g.26073_26080del, NG_009385.2:g.26074_26080del, NG_009385.2:g.26075_26080del, NG_009385.2:g.26076_26080del, NG_009385.2:g.26077_26080del, NG_009385.2:g.26078_26080del, NG_009385.2:g.26079_26080del, NG_009385.2:g.26080del, NG_009385.2:g.26080dup, NG_009385.2:g.26079_26080dup, NG_009385.2:g.26078_26080dup, NG_009385.2:g.26077_26080dup, NG_009385.2:g.26076_26080dup, NG_009385.2:g.26075_26080dup, NG_009385.2:g.26074_26080dup, NG_009385.2:g.26073_26080dup, NG_009385.2:g.26072_26080dup, NG_009385.2:g.26071_26080dup, NG_009385.2:g.26070_26080dup, NG_009385.2:g.26069_26080dup, NG_009385.2:g.26068_26080dup, NG_009385.2:g.26067_26080dup, NG_009385.2:g.26066_26080dup, NG_009385.2:g.26065_26080dup, NG_009385.2:g.26064_26080dup, NG_009385.2:g.26063_26080dup, NG_009385.2:g.26062_26080dup, NG_009385.2:g.26061_26080dup, NG_009385.2:g.26060_26080dup, NG_009385.2:g.26059_26080dup, NG_009385.2:g.26058_26080dup, NG_009385.2:g.26056_26080dup, NG_009385.2:g.26052_26080dup, NG_009385.2:g.26048_26080dup, NM_000451.4:c.*765_*787del, NM_000451.4:c.*766_*787del, NM_000451.4:c.*767_*787del, NM_000451.4:c.*768_*787del, NM_000451.4:c.*769_*787del, NM_000451.4:c.*770_*787del, NM_000451.4:c.*771_*787del, NM_000451.4:c.*772_*787del, NM_000451.4:c.*773_*787del, NM_000451.4:c.*774_*787del, NM_000451.4:c.*775_*787del, NM_000451.4:c.*776_*787del, NM_000451.4:c.*777_*787del, NM_000451.4:c.*778_*787del, NM_000451.4:c.*779_*787del, NM_000451.4:c.*780_*787del, NM_000451.4:c.*781_*787del, NM_000451.4:c.*782_*787del, NM_000451.4:c.*783_*787del, NM_000451.4:c.*784_*787del, NM_000451.4:c.*785_*787del, NM_000451.4:c.*786_*787del, NM_000451.4:c.*787del, NM_000451.4:c.*787dup, NM_000451.4:c.*786_*787dup, NM_000451.4:c.*785_*787dup, NM_000451.4:c.*784_*787dup, NM_000451.4:c.*783_*787dup, NM_000451.4:c.*782_*787dup, NM_000451.4:c.*781_*787dup, NM_000451.4:c.*780_*787dup, NM_000451.4:c.*779_*787dup, NM_000451.4:c.*778_*787dup, NM_000451.4:c.*777_*787dup, NM_000451.4:c.*776_*787dup, NM_000451.4:c.*775_*787dup, NM_000451.4:c.*774_*787dup, NM_000451.4:c.*773_*787dup, NM_000451.4:c.*772_*787dup, NM_000451.4:c.*771_*787dup, NM_000451.4:c.*770_*787dup, NM_000451.4:c.*769_*787dup, NM_000451.4:c.*768_*787dup, NM_000451.4:c.*767_*787dup, NM_000451.4:c.*766_*787dup, NM_000451.4:c.*765_*787dup, NM_000451.4:c.*763_*787dup, NM_000451.4:c.*759_*787dup, NM_000451.4:c.*755_*787dup, NM_000451.3:c.*765_*787del, NM_000451.3:c.*766_*787del, NM_000451.3:c.*767_*787del, NM_000451.3:c.*768_*787del, NM_000451.3:c.*769_*787del, NM_000451.3:c.*770_*787del, NM_000451.3:c.*771_*787del, NM_000451.3:c.*772_*787del, NM_000451.3:c.*773_*787del, NM_000451.3:c.*774_*787del, NM_000451.3:c.*775_*787del, NM_000451.3:c.*776_*787del, NM_000451.3:c.*777_*787del, NM_000451.3:c.*778_*787del, NM_000451.3:c.*779_*787del, NM_000451.3:c.*780_*787del, NM_000451.3:c.*781_*787del, NM_000451.3:c.*782_*787del, NM_000451.3:c.*783_*787del, NM_000451.3:c.*784_*787del, NM_000451.3:c.*785_*787del, NM_000451.3:c.*786_*787del, NM_000451.3:c.*787del, NM_000451.3:c.*787dup, NM_000451.3:c.*786_*787dup, NM_000451.3:c.*785_*787dup, NM_000451.3:c.*784_*787dup, NM_000451.3:c.*783_*787dup, NM_000451.3:c.*782_*787dup, NM_000451.3:c.*781_*787dup, NM_000451.3:c.*780_*787dup, NM_000451.3:c.*779_*787dup, NM_000451.3:c.*778_*787dup, NM_000451.3:c.*777_*787dup, NM_000451.3:c.*776_*787dup, NM_000451.3:c.*775_*787dup, NM_000451.3:c.*774_*787dup, NM_000451.3:c.*773_*787dup, NM_000451.3:c.*772_*787dup, NM_000451.3:c.*771_*787dup, NM_000451.3:c.*770_*787dup, NM_000451.3:c.*769_*787dup, NM_000451.3:c.*768_*787dup, NM_000451.3:c.*767_*787dup, NM_000451.3:c.*766_*787dup, NM_000451.3:c.*765_*787dup, NM_000451.3:c.*763_*787dup, NM_000451.3:c.*759_*787dup, NM_000451.3:c.*755_*787dup, NC_000023.11:g.645401_645423del, NC_000023.11:g.645402_645423del, NC_000023.11:g.645403_645423del, NC_000023.11:g.645404_645423del, NC_000023.11:g.645405_645423del, NC_000023.11:g.645406_645423del, NC_000023.11:g.645407_645423del, NC_000023.11:g.645408_645423del, NC_000023.11:g.645409_645423del, NC_000023.11:g.645410_645423del, NC_000023.11:g.645411_645423del, NC_000023.11:g.645412_645423del, NC_000023.11:g.645413_645423del, NC_000023.11:g.645414_645423del, NC_000023.11:g.645415_645423del, NC_000023.11:g.645416_645423del, NC_000023.11:g.645417_645423del, NC_000023.11:g.645418_645423del, NC_000023.11:g.645419_645423del, NC_000023.11:g.645420_645423del, NC_000023.11:g.645421_645423del, NC_000023.11:g.645422_645423del, NC_000023.11:g.645423del, NC_000023.11:g.645423dup, NC_000023.11:g.645422_645423dup, NC_000023.11:g.645421_645423dup, NC_000023.11:g.645420_645423dup, NC_000023.11:g.645419_645423dup, NC_000023.11:g.645418_645423dup, NC_000023.11:g.645417_645423dup, NC_000023.11:g.645416_645423dup, NC_000023.11:g.645415_645423dup, NC_000023.11:g.645414_645423dup, NC_000023.11:g.645413_645423dup, NC_000023.11:g.645412_645423dup, NC_000023.11:g.645411_645423dup, NC_000023.11:g.645410_645423dup, NC_000023.11:g.645409_645423dup, NC_000023.11:g.645408_645423dup, NC_000023.11:g.645407_645423dup, NC_000023.11:g.645406_645423dup, NC_000023.11:g.645405_645423dup, NC_000023.11:g.645404_645423dup, NC_000023.11:g.645403_645423dup, NC_000023.11:g.645402_645423dup, NC_000023.11:g.645401_645423dup, NC_000023.11:g.645399_645423dup, NC_000023.11:g.645395_645423dup, NC_000023.11:g.645391_645423dup, NC_000023.10:g.606136_606158del, NC_000023.10:g.606137_606158del, NC_000023.10:g.606138_606158del, NC_000023.10:g.606139_606158del, NC_000023.10:g.606140_606158del, NC_000023.10:g.606141_606158del, NC_000023.10:g.606142_606158del, NC_000023.10:g.606143_606158del, NC_000023.10:g.606144_606158del, NC_000023.10:g.606145_606158del, NC_000023.10:g.606146_606158del, NC_000023.10:g.606147_606158del, NC_000023.10:g.606148_606158del, NC_000023.10:g.606149_606158del, NC_000023.10:g.606150_606158del, NC_000023.10:g.606151_606158del, NC_000023.10:g.606152_606158del, NC_000023.10:g.606153_606158del, NC_000023.10:g.606154_606158del, NC_000023.10:g.606155_606158del, NC_000023.10:g.606156_606158del, NC_000023.10:g.606157_606158del, NC_000023.10:g.606158del, NC_000023.10:g.606158dup, NC_000023.10:g.606157_606158dup, NC_000023.10:g.606156_606158dup, NC_000023.10:g.606155_606158dup, NC_000023.10:g.606154_606158dup, NC_000023.10:g.606153_606158dup, NC_000023.10:g.606152_606158dup, NC_000023.10:g.606151_606158dup, NC_000023.10:g.606150_606158dup, NC_000023.10:g.606149_606158dup, NC_000023.10:g.606148_606158dup, NC_000023.10:g.606147_606158dup, NC_000023.10:g.606146_606158dup, NC_000023.10:g.606145_606158dup, NC_000023.10:g.606144_606158dup, NC_000023.10:g.606143_606158dup, NC_000023.10:g.606142_606158dup, NC_000023.10:g.606141_606158dup, NC_000023.10:g.606140_606158dup, NC_000023.10:g.606139_606158dup, NC_000023.10:g.606138_606158dup, NC_000023.10:g.606137_606158dup, NC_000023.10:g.606136_606158dup, NC_000023.10:g.606134_606158dup, NC_000023.10:g.606130_606158dup, NC_000023.10:g.606126_606158dup

        4.

        rs1491543221 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          Y:626708 (GRCh38)
          Y:537443 (GRCh37)
          Canonical SPDI:
          NC_000024.10:626707:AT:
          Gene:
          SHOX (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.000084/1 (ALFA)
          -=0.000019/2 (GnomAD)
          HGVS:

          5.

          rs1491541943 [Homo sapiens]
            Variant type:
            INS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            Y:623218 (GRCh38)
            Y:533954 (GRCh37)
            Canonical SPDI:
            NC_000024.10:623218::C
            Gene:
            SHOX (Varview)
            Functional Consequence:
            2KB_upstream_variant,upstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:

            6.

            rs1491460327 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTCTC [Show Flanks]
              Chromosome:
              Y:625716 (GRCh38)
              Y:536452 (GRCh37)
              Canonical SPDI:
              NC_000024.10:625716:CTCTC:CTCTCCTCTC
              Gene:
              SHOX (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              CTCTCCTCTC=0./0 (ALFA)
              CTCTC=0.000004/1 (TOPMED)
              HGVS:

              7.

              rs1491456685 has merged into rs1169172442 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AA>-,A,AAA [Show Flanks]
                Chromosome:
                Y:636697 (GRCh38)
                Y:547432 (GRCh37)
                Canonical SPDI:
                NC_000024.10:636694:AAAA:AA,NC_000024.10:636694:AAAA:AAA,NC_000024.10:636694:AAAA:AAAAA
                Gene:
                SHOX (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAA=0./0 (ALFA)
                HGVS:

                8.

                rs1491448927 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  Y:634327 (GRCh38)
                  Y:545063 (GRCh37)
                  Canonical SPDI:
                  NC_000024.10:634327::G
                  Gene:
                  SHOX (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000019/5 (TOPMED)
                  G=0.000031/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491441551 has merged into rs753102414 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TCTCTC>-,TC,TCTC,TCTCTCTC,TCTCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC [Show Flanks]
                    Chromosome:
                    Y:625722 (GRCh38)
                    Y:536457 (GRCh37)
                    Canonical SPDI:
                    NC_000024.10:625715:TCTCTCTCTCTC:TCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTC,NC_000024.10:625715:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC
                    Gene:
                    SHOX (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TCTCTCTC=0./0 (ALFA)
                    -=0.000015/4 (TOPMED)
                    TCTC=0.487152/1839 (1000Genomes)
                    HGVS:
                    NC_000024.10:g.625716TC[3], NC_000024.10:g.625716TC[4], NC_000024.10:g.625716TC[5], NC_000024.10:g.625716TC[7], NC_000024.10:g.625716TC[8], NC_000024.10:g.625716TC[9], NC_000024.10:g.625716TC[10], NC_000024.9:g.536451TC[3], NC_000024.9:g.536451TC[4], NC_000024.9:g.536451TC[5], NC_000024.9:g.536451TC[7], NC_000024.9:g.536451TC[8], NC_000024.9:g.536451TC[9], NC_000024.9:g.536451TC[10], NG_009385.2:g.6373TC[3], NG_009385.2:g.6373TC[4], NG_009385.2:g.6373TC[5], NG_009385.2:g.6373TC[7], NG_009385.2:g.6373TC[8], NG_009385.2:g.6373TC[9], NG_009385.2:g.6373TC[10], NC_000023.11:g.625716TC[3], NC_000023.11:g.625716TC[4], NC_000023.11:g.625716TC[5], NC_000023.11:g.625716TC[7], NC_000023.11:g.625716TC[8], NC_000023.11:g.625716TC[9], NC_000023.11:g.625716TC[10], NC_000023.10:g.586451TC[3], NC_000023.10:g.586451TC[4], NC_000023.10:g.586451TC[5], NC_000023.10:g.586451TC[7], NC_000023.10:g.586451TC[8], NC_000023.10:g.586451TC[9], NC_000023.10:g.586451TC[10]

                    10.

                    rs1491439290 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->G [Show Flanks]
                      Chromosome:
                      Y:622373 (GRCh38)
                      Y:533109 (GRCh37)
                      Canonical SPDI:
                      NC_000024.10:622373::G
                      Gene:
                      SHOX (Varview)
                      Functional Consequence:
                      2KB_upstream_variant,upstream_transcript_variant
                      HGVS:

                      11.

                      rs1491427774 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->CC [Show Flanks]
                        Chromosome:
                        Y:625109 (GRCh38)
                        Y:535845 (GRCh37)
                        Canonical SPDI:
                        NC_000024.10:625109:C:CCC
                        Gene:
                        SHOX (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        HGVS:

                        12.

                        rs1491426992 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          Y:626793 (GRCh38)
                          Y:537528 (GRCh37)
                          Canonical SPDI:
                          NC_000024.10:626791:TAT:T
                          Gene:
                          SHOX (Varview)
                          Functional Consequence:
                          genic_upstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.00067/11 (ALFA)
                          -=0.00385/64 (TOMMO)
                          HGVS:

                          13.

                          rs1491417053 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GA>- [Show Flanks]
                            Chromosome:
                            Y:651412 (GRCh38)
                            Y:562147 (GRCh37)
                            Canonical SPDI:
                            NC_000024.10:651410:AGA:A
                            Gene:
                            SHOX (Varview)
                            Functional Consequence:
                            intron_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.003855/80 (ALFA)
                            -=0.000248/4 (TOMMO)
                            -=0.000351/3 (ExAC)
                            -=0.000723/80 (GnomAD)
                            HGVS:

                            14.

                            rs1491398270 has merged into rs1239302815 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CTCT>-,CT,CTCTCT [Show Flanks]
                              Chromosome:
                              Y:628557 (GRCh38)
                              Y:539292 (GRCh37)
                              Canonical SPDI:
                              NC_000024.10:628551:TCTCTCTCT:TCTCT,NC_000024.10:628551:TCTCTCTCT:TCTCTCT,NC_000024.10:628551:TCTCTCTCT:TCTCTCTCTCT
                              Gene:
                              SHOX (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TCTCTCT=0./0 (ALFA)
                              TC=0.00062/3 (1000Genomes)
                              TC=0.00077/10 (TOMMO)
                              HGVS:

                              15.

                              rs1491361082 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                Y:648896 (GRCh38)
                                Y:559631 (GRCh37)
                                Canonical SPDI:
                                NC_000024.10:648895:CT:
                                Gene:
                                SHOX (Varview)
                                Functional Consequence:
                                intron_variant,3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491360794 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->CT [Show Flanks]
                                  Chromosome:
                                  Y:645391 (GRCh38)
                                  Y:556127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000024.10:645391:T:TCT
                                  Gene:
                                  SHOX (Varview)
                                  Functional Consequence:
                                  intron_variant,3_prime_UTR_variant
                                  HGVS:

                                  17.

                                  rs1491359816 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    AC>- [Show Flanks]
                                    Chromosome:
                                    Y:651421 (GRCh38)
                                    Y:562156 (GRCh37)
                                    Canonical SPDI:
                                    NC_000024.10:651420:AC:
                                    Gene:
                                    SHOX (Varview)
                                    Functional Consequence:
                                    intron_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    -=0.000008/1 (GnomAD_exomes)
                                    -=0.000022/3 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1491357921 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->ATC [Show Flanks]
                                      Chromosome:
                                      Y:626792 (GRCh38)
                                      Y:537528 (GRCh37)
                                      Canonical SPDI:
                                      NC_000024.10:626792:ATC:ATCATC
                                      Gene:
                                      SHOX (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ATCATC=0.000084/1 (ALFA)
                                      ATC=0.000008/1 (GnomAD)
                                      ATC=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491333769 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        Y:641687 (GRCh38)
                                        Y:552422 (GRCh37)
                                        Canonical SPDI:
                                        NC_000024.10:641686:CA:
                                        Gene:
                                        SHOX (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0.00008/1 (ALFA)
                                        HGVS:

                                        20.

                                        rs1491305005 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CTTTC [Show Flanks]
                                          Chromosome:
                                          Y:624869 (GRCh38)
                                          Y:535605 (GRCh37)
                                          Canonical SPDI:
                                          NC_000024.10:624869:CTTTC:CTTTCCTTTC
                                          Gene:
                                          SHOX (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          CTTTCCTTTC=0.00615/73 (ALFA)
                                          CTTTC=0.02553/1342 (GnomAD)
                                          HGVS:

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