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Items: 1 to 20 of 11956

1.

rs1491579812 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AA>- [Show Flanks]
    Chromosome:
    22:50449625 (GRCh38)
    22:50888054 (GRCh37)
    Canonical SPDI:
    NC_000022.11:50449623:AAA:A
    Gene:
    SBF1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0.02689/319 (ALFA)
    -=0.00079/13 (TOMMO)
    -=0.00383/7 (Korea1K)
    -=0.015/9 (NorthernSweden)
    -=0.03349/3136 (GnomAD)
    HGVS:

    2.

    rs1491577679 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GTCC,GTCCCC,GTCCCCC,GTCCCCCC,GTCCCCCCC,GTCCCCCCCC,GTCCCCCCCCC,GTCCCCCCCCCC,GTCCCCCCCCCCC,GTCCCCCCCCCCCCC,TCC,TCCC,TCCCC,TCCCCC,TCCCCCC,TCCCCCCC,TCCCCCCCC,TCCCCCCCCC,TCCCCCCCCCC,TCCCCCCCCCCCC,TCCCCCCCCCCCCC,TCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCCCCCCC,TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,TCTCC,TTCC,TTCCC,TTCCCCCC [Show Flanks]
      Chromosome:
      22:50446356 (GRCh38)
      22:50884786 (GRCh37)
      Canonical SPDI:
      NC_000022.11:50446356:C:CGTCC,NC_000022.11:50446356:C:CGTCCCC,NC_000022.11:50446356:C:CGTCCCCC,NC_000022.11:50446356:C:CGTCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCCCCCC,NC_000022.11:50446356:C:CGTCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCC,NC_000022.11:50446356:C:CTCCC,NC_000022.11:50446356:C:CTCCCC,NC_000022.11:50446356:C:CTCCCCC,NC_000022.11:50446356:C:CTCCCCCC,NC_000022.11:50446356:C:CTCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:C:CTCTCC,NC_000022.11:50446356:C:CTTCC,NC_000022.11:50446356:C:CTTCCC,NC_000022.11:50446356:C:CTTCCCCCC
      Gene:
      SBF1 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CTCC=0./0 (ALFA)
      HGVS:
      NC_000022.11:g.50446357_50446358insGTCC, NC_000022.11:g.50446357_50446358insGTCCCC, NC_000022.11:g.50446357_50446358insGTCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insGTCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCC, NC_000022.11:g.50446357_50446358insTCCC, NC_000022.11:g.50446357_50446358insTCCCC, NC_000022.11:g.50446357_50446358insTCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357_50446358insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446357CT[2]CC[1], NC_000022.11:g.50446357_50446358insTTCC, NC_000022.11:g.50446357_50446358insTTCCC, NC_000022.11:g.50446357_50446358insTTCCCCCC, NC_000022.10:g.50884786_50884787insGTCC, NC_000022.10:g.50884786_50884787insGTCCCC, NC_000022.10:g.50884786_50884787insGTCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insGTCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCC, NC_000022.10:g.50884786_50884787insTCCC, NC_000022.10:g.50884786_50884787insTCCCC, NC_000022.10:g.50884786_50884787insTCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786_50884787insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884786CT[2]CC[1], NC_000022.10:g.50884786_50884787insTTCC, NC_000022.10:g.50884786_50884787insTTCCC, NC_000022.10:g.50884786_50884787insTTCCCCCC, NG_054883.1:g.108041_108042insGTCC, NG_054883.1:g.108041_108042insGTCCCC, NG_054883.1:g.108041_108042insGTCCCCC, NG_054883.1:g.108041_108042insGTCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCCCCCC, NG_054883.1:g.108041_108042insGTCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCC, NG_054883.1:g.108041_108042insTCCC, NG_054883.1:g.108041_108042insTCCCC, NG_054883.1:g.108041_108042insTCCCCC, NG_054883.1:g.108041_108042insTCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108041_108042insTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108041CT[2]CC[1], NG_054883.1:g.108041_108042insTTCC, NG_054883.1:g.108041_108042insTTCCC, NG_054883.1:g.108041_108042insTTCCCCCC, NG_041810.1:g.33715_33716insGACG, NG_041810.1:g.33715G[4]ACG[1], NG_041810.1:g.33715G[5]ACG[1], NG_041810.1:g.33715G[6]ACG[1], NG_041810.1:g.33715G[7]ACG[1], NG_041810.1:g.33715G[8]ACG[1], NG_041810.1:g.33715G[9]ACG[1], NG_041810.1:g.33715G[10]ACG[1], NG_041810.1:g.33715G[11]ACG[1], NG_041810.1:g.33715G[13]ACG[1], NG_041810.1:g.33715_33716insGAG, NG_041810.1:g.33715_33716insGGAG, NG_041810.1:g.33715G[4]AG[1], NG_041810.1:g.33715G[5]AG[1], NG_041810.1:g.33715G[6]AG[1], NG_041810.1:g.33715G[7]AG[1], NG_041810.1:g.33715G[8]AG[1], NG_041810.1:g.33715G[9]AG[1], NG_041810.1:g.33715G[10]AG[1], NG_041810.1:g.33715G[12]AG[1], NG_041810.1:g.33715G[13]AG[1], NG_041810.1:g.33715G[14]AG[1], NG_041810.1:g.33715G[15]AG[1], NG_041810.1:g.33715G[16]AG[1], NG_041810.1:g.33715G[17]AG[1], NG_041810.1:g.33715G[18]AG[1], NG_041810.1:g.33715G[19]AG[1], NG_041810.1:g.33715G[21]AG[1], NG_041810.1:g.33715G[31]AG[1], NG_041810.1:g.33715_33716insGAGAG, NG_041810.1:g.33715_33716insGAAG, NG_041810.1:g.33715_33716insGGAAG, NG_041810.1:g.33715G[6]AAG[1], NM_002972.4:c.*785_*786insGACG, NM_002972.4:c.*785G[4]ACG[1], NM_002972.4:c.*785G[5]ACG[1], NM_002972.4:c.*785G[6]ACG[1], NM_002972.4:c.*785G[7]ACG[1], NM_002972.4:c.*785G[8]ACG[1], NM_002972.4:c.*785G[9]ACG[1], NM_002972.4:c.*785G[10]ACG[1], NM_002972.4:c.*785G[11]ACG[1], NM_002972.4:c.*785G[13]ACG[1], NM_002972.4:c.*785_*786insGAG, NM_002972.4:c.*785_*786insGGAG, NM_002972.4:c.*785G[4]AG[1], NM_002972.4:c.*785G[5]AG[1], NM_002972.4:c.*785G[6]AG[1], NM_002972.4:c.*785G[7]AG[1], NM_002972.4:c.*785G[8]AG[1], NM_002972.4:c.*785G[9]AG[1], NM_002972.4:c.*785G[10]AG[1], NM_002972.4:c.*785G[12]AG[1], NM_002972.4:c.*785G[13]AG[1], NM_002972.4:c.*785G[14]AG[1], NM_002972.4:c.*785G[15]AG[1], NM_002972.4:c.*785G[16]AG[1], NM_002972.4:c.*785G[17]AG[1], NM_002972.4:c.*785G[18]AG[1], NM_002972.4:c.*785G[19]AG[1], NM_002972.4:c.*785G[21]AG[1], NM_002972.4:c.*785G[31]AG[1], NM_002972.4:c.*785_*786insGAGAG, NM_002972.4:c.*785_*786insGAAG, NM_002972.4:c.*785_*786insGGAAG, NM_002972.4:c.*785G[6]AAG[1], NM_002972.3:c.*785_*786insGACG, NM_002972.3:c.*785G[4]ACG[1], NM_002972.3:c.*785G[5]ACG[1], NM_002972.3:c.*785G[6]ACG[1], NM_002972.3:c.*785G[7]ACG[1], NM_002972.3:c.*785G[8]ACG[1], NM_002972.3:c.*785G[9]ACG[1], NM_002972.3:c.*785G[10]ACG[1], NM_002972.3:c.*785G[11]ACG[1], NM_002972.3:c.*785G[13]ACG[1], NM_002972.3:c.*785_*786insGAG, NM_002972.3:c.*785_*786insGGAG, NM_002972.3:c.*785G[4]AG[1], NM_002972.3:c.*785G[5]AG[1], NM_002972.3:c.*785G[6]AG[1], NM_002972.3:c.*785G[7]AG[1], NM_002972.3:c.*785G[8]AG[1], NM_002972.3:c.*785G[9]AG[1], NM_002972.3:c.*785G[10]AG[1], NM_002972.3:c.*785G[12]AG[1], NM_002972.3:c.*785G[13]AG[1], NM_002972.3:c.*785G[14]AG[1], NM_002972.3:c.*785G[15]AG[1], NM_002972.3:c.*785G[16]AG[1], NM_002972.3:c.*785G[17]AG[1], NM_002972.3:c.*785G[18]AG[1], NM_002972.3:c.*785G[19]AG[1], NM_002972.3:c.*785G[21]AG[1], NM_002972.3:c.*785G[31]AG[1], NM_002972.3:c.*785_*786insGAGAG, NM_002972.3:c.*785_*786insGAAG, NM_002972.3:c.*785_*786insGGAAG, NM_002972.3:c.*785G[6]AAG[1], NM_002972.2:c.*785_*786insGACG, NM_002972.2:c.*785G[4]ACG[1], NM_002972.2:c.*785G[5]ACG[1], NM_002972.2:c.*785G[6]ACG[1], NM_002972.2:c.*785G[7]ACG[1], NM_002972.2:c.*785G[8]ACG[1], NM_002972.2:c.*785G[9]ACG[1], NM_002972.2:c.*785G[10]ACG[1], NM_002972.2:c.*785G[11]ACG[1], NM_002972.2:c.*785G[13]ACG[1], NM_002972.2:c.*785_*786insGAG, NM_002972.2:c.*785_*786insGGAG, NM_002972.2:c.*785G[4]AG[1], NM_002972.2:c.*785G[5]AG[1], NM_002972.2:c.*785G[6]AG[1], NM_002972.2:c.*785G[7]AG[1], NM_002972.2:c.*785G[8]AG[1], NM_002972.2:c.*785G[9]AG[1], NM_002972.2:c.*785G[10]AG[1], NM_002972.2:c.*785G[12]AG[1], NM_002972.2:c.*785G[13]AG[1], NM_002972.2:c.*785G[14]AG[1], NM_002972.2:c.*785G[15]AG[1], NM_002972.2:c.*785G[16]AG[1], NM_002972.2:c.*785G[17]AG[1], NM_002972.2:c.*785G[18]AG[1], NM_002972.2:c.*785G[19]AG[1], NM_002972.2:c.*785G[21]AG[1], NM_002972.2:c.*785G[31]AG[1], NM_002972.2:c.*785_*786insGAGAG, NM_002972.2:c.*785_*786insGAAG, NM_002972.2:c.*785_*786insGGAAG, NM_002972.2:c.*785G[6]AAG[1], NM_001410794.1:c.*785_*786insGACG, NM_001410794.1:c.*785G[4]ACG[1], NM_001410794.1:c.*785G[5]ACG[1], NM_001410794.1:c.*785G[6]ACG[1], NM_001410794.1:c.*785G[7]ACG[1], NM_001410794.1:c.*785G[8]ACG[1], NM_001410794.1:c.*785G[9]ACG[1], NM_001410794.1:c.*785G[10]ACG[1], NM_001410794.1:c.*785G[11]ACG[1], NM_001410794.1:c.*785G[13]ACG[1], NM_001410794.1:c.*785_*786insGAG, NM_001410794.1:c.*785_*786insGGAG, NM_001410794.1:c.*785G[4]AG[1], NM_001410794.1:c.*785G[5]AG[1], NM_001410794.1:c.*785G[6]AG[1], NM_001410794.1:c.*785G[7]AG[1], NM_001410794.1:c.*785G[8]AG[1], NM_001410794.1:c.*785G[9]AG[1], NM_001410794.1:c.*785G[10]AG[1], NM_001410794.1:c.*785G[12]AG[1], NM_001410794.1:c.*785G[13]AG[1], NM_001410794.1:c.*785G[14]AG[1], NM_001410794.1:c.*785G[15]AG[1], NM_001410794.1:c.*785G[16]AG[1], NM_001410794.1:c.*785G[17]AG[1], NM_001410794.1:c.*785G[18]AG[1], NM_001410794.1:c.*785G[19]AG[1], NM_001410794.1:c.*785G[21]AG[1], NM_001410794.1:c.*785G[31]AG[1], NM_001410794.1:c.*785_*786insGAGAG, NM_001410794.1:c.*785_*786insGAAG, NM_001410794.1:c.*785_*786insGGAAG, NM_001410794.1:c.*785G[6]AAG[1], NM_001365819.1:c.*785_*786insGACG, NM_001365819.1:c.*785G[4]ACG[1], NM_001365819.1:c.*785G[5]ACG[1], NM_001365819.1:c.*785G[6]ACG[1], NM_001365819.1:c.*785G[7]ACG[1], NM_001365819.1:c.*785G[8]ACG[1], NM_001365819.1:c.*785G[9]ACG[1], NM_001365819.1:c.*785G[10]ACG[1], NM_001365819.1:c.*785G[11]ACG[1], NM_001365819.1:c.*785G[13]ACG[1], NM_001365819.1:c.*785_*786insGAG, NM_001365819.1:c.*785_*786insGGAG, NM_001365819.1:c.*785G[4]AG[1], NM_001365819.1:c.*785G[5]AG[1], NM_001365819.1:c.*785G[6]AG[1], NM_001365819.1:c.*785G[7]AG[1], NM_001365819.1:c.*785G[8]AG[1], NM_001365819.1:c.*785G[9]AG[1], NM_001365819.1:c.*785G[10]AG[1], NM_001365819.1:c.*785G[12]AG[1], NM_001365819.1:c.*785G[13]AG[1], NM_001365819.1:c.*785G[14]AG[1], NM_001365819.1:c.*785G[15]AG[1], NM_001365819.1:c.*785G[16]AG[1], NM_001365819.1:c.*785G[17]AG[1], NM_001365819.1:c.*785G[18]AG[1], NM_001365819.1:c.*785G[19]AG[1], NM_001365819.1:c.*785G[21]AG[1], NM_001365819.1:c.*785G[31]AG[1], NM_001365819.1:c.*785_*786insGAGAG, NM_001365819.1:c.*785_*786insGAAG, NM_001365819.1:c.*785_*786insGGAAG, NM_001365819.1:c.*785G[6]AAG[1], NM_001410795.1:c.*785_*786insGACG, NM_001410795.1:c.*785G[4]ACG[1], NM_001410795.1:c.*785G[5]ACG[1], NM_001410795.1:c.*785G[6]ACG[1], NM_001410795.1:c.*785G[7]ACG[1], NM_001410795.1:c.*785G[8]ACG[1], NM_001410795.1:c.*785G[9]ACG[1], NM_001410795.1:c.*785G[10]ACG[1], NM_001410795.1:c.*785G[11]ACG[1], NM_001410795.1:c.*785G[13]ACG[1], NM_001410795.1:c.*785_*786insGAG, NM_001410795.1:c.*785_*786insGGAG, NM_001410795.1:c.*785G[4]AG[1], NM_001410795.1:c.*785G[5]AG[1], NM_001410795.1:c.*785G[6]AG[1], NM_001410795.1:c.*785G[7]AG[1], NM_001410795.1:c.*785G[8]AG[1], NM_001410795.1:c.*785G[9]AG[1], NM_001410795.1:c.*785G[10]AG[1], NM_001410795.1:c.*785G[12]AG[1], NM_001410795.1:c.*785G[13]AG[1], NM_001410795.1:c.*785G[14]AG[1], NM_001410795.1:c.*785G[15]AG[1], NM_001410795.1:c.*785G[16]AG[1], NM_001410795.1:c.*785G[17]AG[1], NM_001410795.1:c.*785G[18]AG[1], NM_001410795.1:c.*785G[19]AG[1], NM_001410795.1:c.*785G[21]AG[1], NM_001410795.1:c.*785G[31]AG[1], NM_001410795.1:c.*785_*786insGAGAG, NM_001410795.1:c.*785_*786insGAAG, NM_001410795.1:c.*785_*786insGGAAG, NM_001410795.1:c.*785G[6]AAG[1], XM_005261935.3:c.*785_*786insGACG, XM_005261935.3:c.*785G[4]ACG[1], XM_005261935.3:c.*785G[5]ACG[1], XM_005261935.3:c.*785G[6]ACG[1], XM_005261935.3:c.*785G[7]ACG[1], XM_005261935.3:c.*785G[8]ACG[1], XM_005261935.3:c.*785G[9]ACG[1], XM_005261935.3:c.*785G[10]ACG[1], XM_005261935.3:c.*785G[11]ACG[1], XM_005261935.3:c.*785G[13]ACG[1], XM_005261935.3:c.*785_*786insGAG, XM_005261935.3:c.*785_*786insGGAG, XM_005261935.3:c.*785G[4]AG[1], XM_005261935.3:c.*785G[5]AG[1], XM_005261935.3:c.*785G[6]AG[1], XM_005261935.3:c.*785G[7]AG[1], XM_005261935.3:c.*785G[8]AG[1], XM_005261935.3:c.*785G[9]AG[1], XM_005261935.3:c.*785G[10]AG[1], XM_005261935.3:c.*785G[12]AG[1], XM_005261935.3:c.*785G[13]AG[1], XM_005261935.3:c.*785G[14]AG[1], XM_005261935.3:c.*785G[15]AG[1], XM_005261935.3:c.*785G[16]AG[1], XM_005261935.3:c.*785G[17]AG[1], XM_005261935.3:c.*785G[18]AG[1], XM_005261935.3:c.*785G[19]AG[1], XM_005261935.3:c.*785G[21]AG[1], XM_005261935.3:c.*785G[31]AG[1], XM_005261935.3:c.*785_*786insGAGAG, XM_005261935.3:c.*785_*786insGAAG, XM_005261935.3:c.*785_*786insGGAAG, XM_005261935.3:c.*785G[6]AAG[1], XM_047441454.1:c.*785_*786insGACG, XM_047441454.1:c.*785G[4]ACG[1], XM_047441454.1:c.*785G[5]ACG[1], XM_047441454.1:c.*785G[6]ACG[1], XM_047441454.1:c.*785G[7]ACG[1], XM_047441454.1:c.*785G[8]ACG[1], XM_047441454.1:c.*785G[9]ACG[1], XM_047441454.1:c.*785G[10]ACG[1], XM_047441454.1:c.*785G[11]ACG[1], XM_047441454.1:c.*785G[13]ACG[1], XM_047441454.1:c.*785_*786insGAG, XM_047441454.1:c.*785_*786insGGAG, XM_047441454.1:c.*785G[4]AG[1], XM_047441454.1:c.*785G[5]AG[1], XM_047441454.1:c.*785G[6]AG[1], XM_047441454.1:c.*785G[7]AG[1], XM_047441454.1:c.*785G[8]AG[1], XM_047441454.1:c.*785G[9]AG[1], XM_047441454.1:c.*785G[10]AG[1], XM_047441454.1:c.*785G[12]AG[1], XM_047441454.1:c.*785G[13]AG[1], XM_047441454.1:c.*785G[14]AG[1], XM_047441454.1:c.*785G[15]AG[1], XM_047441454.1:c.*785G[16]AG[1], XM_047441454.1:c.*785G[17]AG[1], XM_047441454.1:c.*785G[18]AG[1], XM_047441454.1:c.*785G[19]AG[1], XM_047441454.1:c.*785G[21]AG[1], XM_047441454.1:c.*785G[31]AG[1], XM_047441454.1:c.*785_*786insGAGAG, XM_047441454.1:c.*785_*786insGAAG, XM_047441454.1:c.*785_*786insGGAAG, XM_047441454.1:c.*785G[6]AAG[1]

      3.

      rs1491532141 has merged into rs1352081723 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        G>-,GG [Show Flanks]
        Chromosome:
        22:50449541 (GRCh38)
        22:50887970 (GRCh37)
        Canonical SPDI:
        NC_000022.11:50449540:GGGGG:GGGG,NC_000022.11:50449540:GGGGG:GGGGGG
        Gene:
        SBF1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        GGGGGG=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491531522 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          22:50452723 (GRCh38)
          22:50891152 (GRCh37)
          Canonical SPDI:
          NC_000022.11:50452722:CA:
          Gene:
          SBF1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0.00438/52 (ALFA)
          -=0.00026/4 (TOMMO)
          HGVS:

          5.

          rs1491531391 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->AGTG [Show Flanks]
            Chromosome:
            22:50445515 (GRCh38)
            22:50883945 (GRCh37)
            Canonical SPDI:
            NC_000022.11:50445515:TGAGTG:TGAGTGAGTG
            Gene:
            SBF1 (Varview), PPP6R2 (Varview)
            Functional Consequence:
            3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TGAGTGAGTG=0./0 (ALFA)
            TGAG=0.000008/2 (TOPMED)
            TGAG=0.000014/2 (GnomAD)
            HGVS:

            6.

            rs1491471107 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              22:50447493 (GRCh38)
              22:50885922 (GRCh37)
              Canonical SPDI:
              NC_000022.11:50447491:GTG:G
              Gene:
              SBF1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0.000174/4 (ALFA)
              -=0.000017/2 (ExAC)
              -=0.00004/10 (GnomAD_exomes)
              -=0.000064/9 (GnomAD)
              -=0.000072/19 (TOPMED)
              HGVS:

              7.

              rs1491439433 [Homo sapiens]
                Variant type:
                INS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                22:50461327 (GRCh38)
                22:50899757 (GRCh37)
                Canonical SPDI:
                NC_000022.11:50461327::C
                Gene:
                SBF1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000011/3 (TOPMED)
                C=0.000153/2 (GnomAD)
                HGVS:

                8.

                rs1491424556 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  GG>C [Show Flanks]
                  Chromosome:
                  22:50461328 (GRCh38)
                  22:50899757 (GRCh37)
                  Canonical SPDI:
                  NC_000022.11:50461327:GG:C
                  Gene:
                  SBF1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by cluster
                  HGVS:

                  9.

                  rs1491415207 has merged into rs1173288067 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GAGAA>-,GAGAAGAGAA [Show Flanks]
                    Chromosome:
                    22:50449693 (GRCh38)
                    22:50888122 (GRCh37)
                    Canonical SPDI:
                    NC_000022.11:50449690:AAGAGAA:AA,NC_000022.11:50449690:AAGAGAA:AAGAGAAGAGAA
                    Gene:
                    SBF1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAGAGAAGAGAA=0./0 (ALFA)
                    HGVS:

                    10.

                    rs1491397770 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TT>- [Show Flanks]
                      Chromosome:
                      22:50445515 (GRCh38)
                      22:50883944 (GRCh37)
                      Canonical SPDI:
                      NC_000022.11:50445514:TT:
                      Gene:
                      SBF1 (Varview), PPP6R2 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000071/10 (GnomAD)
                      -=0.000076/20 (TOPMED)
                      -=0.003333/2 (NorthernSweden)
                      HGVS:

                      11.

                      rs1491340085 has merged into rs781361309 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CCCCCCCCCC>-,C,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
                        Chromosome:
                        22:50446362 (GRCh38)
                        22:50884791 (GRCh37)
                        Canonical SPDI:
                        NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000022.11:50446356:CCCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
                        Gene:
                        SBF1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CCCCC=0./0 (ALFA)
                        -=0.275/11 (GENOME_DK)
                        HGVS:
                        NC_000022.11:g.50446362_50446371del, NC_000022.11:g.50446363_50446371del, NC_000022.11:g.50446364_50446371del, NC_000022.11:g.50446365_50446371del, NC_000022.11:g.50446366_50446371del, NC_000022.11:g.50446367_50446371del, NC_000022.11:g.50446368_50446371del, NC_000022.11:g.50446369_50446371del, NC_000022.11:g.50446370_50446371del, NC_000022.11:g.50446371del, NC_000022.11:g.50446371dup, NC_000022.11:g.50446370_50446371dup, NC_000022.11:g.50446369_50446371dup, NC_000022.11:g.50446368_50446371dup, NC_000022.11:g.50446367_50446371dup, NC_000022.11:g.50446366_50446371dup, NC_000022.11:g.50446365_50446371dup, NC_000022.11:g.50446364_50446371dup, NC_000022.11:g.50446363_50446371dup, NC_000022.11:g.50446362_50446371dup, NC_000022.11:g.50446361_50446371dup, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.11:g.50446371_50446372insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884791_50884800del, NC_000022.10:g.50884792_50884800del, NC_000022.10:g.50884793_50884800del, NC_000022.10:g.50884794_50884800del, NC_000022.10:g.50884795_50884800del, NC_000022.10:g.50884796_50884800del, NC_000022.10:g.50884797_50884800del, NC_000022.10:g.50884798_50884800del, NC_000022.10:g.50884799_50884800del, NC_000022.10:g.50884800del, NC_000022.10:g.50884800dup, NC_000022.10:g.50884799_50884800dup, NC_000022.10:g.50884798_50884800dup, NC_000022.10:g.50884797_50884800dup, NC_000022.10:g.50884796_50884800dup, NC_000022.10:g.50884795_50884800dup, NC_000022.10:g.50884794_50884800dup, NC_000022.10:g.50884793_50884800dup, NC_000022.10:g.50884792_50884800dup, NC_000022.10:g.50884791_50884800dup, NC_000022.10:g.50884790_50884800dup, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000022.10:g.50884800_50884801insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108046_108055del, NG_054883.1:g.108047_108055del, NG_054883.1:g.108048_108055del, NG_054883.1:g.108049_108055del, NG_054883.1:g.108050_108055del, NG_054883.1:g.108051_108055del, NG_054883.1:g.108052_108055del, NG_054883.1:g.108053_108055del, NG_054883.1:g.108054_108055del, NG_054883.1:g.108055del, NG_054883.1:g.108055dup, NG_054883.1:g.108054_108055dup, NG_054883.1:g.108053_108055dup, NG_054883.1:g.108052_108055dup, NG_054883.1:g.108051_108055dup, NG_054883.1:g.108050_108055dup, NG_054883.1:g.108049_108055dup, NG_054883.1:g.108048_108055dup, NG_054883.1:g.108047_108055dup, NG_054883.1:g.108046_108055dup, NG_054883.1:g.108045_108055dup, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_054883.1:g.108055_108056insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NG_041810.1:g.33706_33715del, NG_041810.1:g.33707_33715del, NG_041810.1:g.33708_33715del, NG_041810.1:g.33709_33715del, NG_041810.1:g.33710_33715del, NG_041810.1:g.33711_33715del, NG_041810.1:g.33712_33715del, NG_041810.1:g.33713_33715del, NG_041810.1:g.33714_33715del, NG_041810.1:g.33715del, NG_041810.1:g.33715dup, NG_041810.1:g.33714_33715dup, NG_041810.1:g.33713_33715dup, NG_041810.1:g.33712_33715dup, NG_041810.1:g.33711_33715dup, NG_041810.1:g.33710_33715dup, NG_041810.1:g.33709_33715dup, NG_041810.1:g.33708_33715dup, NG_041810.1:g.33707_33715dup, NG_041810.1:g.33706_33715dup, NG_041810.1:g.33705_33715dup, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_041810.1:g.33715_33716insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*776_*785del, NM_002972.4:c.*777_*785del, NM_002972.4:c.*778_*785del, NM_002972.4:c.*779_*785del, NM_002972.4:c.*780_*785del, NM_002972.4:c.*781_*785del, NM_002972.4:c.*782_*785del, NM_002972.4:c.*783_*785del, NM_002972.4:c.*784_*785del, NM_002972.4:c.*785del, NM_002972.4:c.*785dup, NM_002972.4:c.*784_*785dup, NM_002972.4:c.*783_*785dup, NM_002972.4:c.*782_*785dup, NM_002972.4:c.*781_*785dup, NM_002972.4:c.*780_*785dup, NM_002972.4:c.*779_*785dup, NM_002972.4:c.*778_*785dup, NM_002972.4:c.*777_*785dup, NM_002972.4:c.*776_*785dup, NM_002972.4:c.*775_*785dup, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.4:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*776_*785del, NM_002972.3:c.*777_*785del, NM_002972.3:c.*778_*785del, NM_002972.3:c.*779_*785del, NM_002972.3:c.*780_*785del, NM_002972.3:c.*781_*785del, NM_002972.3:c.*782_*785del, NM_002972.3:c.*783_*785del, NM_002972.3:c.*784_*785del, NM_002972.3:c.*785del, NM_002972.3:c.*785dup, NM_002972.3:c.*784_*785dup, NM_002972.3:c.*783_*785dup, NM_002972.3:c.*782_*785dup, NM_002972.3:c.*781_*785dup, NM_002972.3:c.*780_*785dup, NM_002972.3:c.*779_*785dup, NM_002972.3:c.*778_*785dup, NM_002972.3:c.*777_*785dup, NM_002972.3:c.*776_*785dup, NM_002972.3:c.*775_*785dup, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*776_*785del, NM_002972.2:c.*777_*785del, NM_002972.2:c.*778_*785del, NM_002972.2:c.*779_*785del, NM_002972.2:c.*780_*785del, NM_002972.2:c.*781_*785del, NM_002972.2:c.*782_*785del, NM_002972.2:c.*783_*785del, NM_002972.2:c.*784_*785del, NM_002972.2:c.*785del, NM_002972.2:c.*785dup, NM_002972.2:c.*784_*785dup, NM_002972.2:c.*783_*785dup, NM_002972.2:c.*782_*785dup, NM_002972.2:c.*781_*785dup, NM_002972.2:c.*780_*785dup, NM_002972.2:c.*779_*785dup, NM_002972.2:c.*778_*785dup, NM_002972.2:c.*777_*785dup, NM_002972.2:c.*776_*785dup, NM_002972.2:c.*775_*785dup, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_002972.2:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*776_*785del, NM_001410794.1:c.*777_*785del, NM_001410794.1:c.*778_*785del, NM_001410794.1:c.*779_*785del, NM_001410794.1:c.*780_*785del, NM_001410794.1:c.*781_*785del, NM_001410794.1:c.*782_*785del, NM_001410794.1:c.*783_*785del, NM_001410794.1:c.*784_*785del, NM_001410794.1:c.*785del, NM_001410794.1:c.*785dup, NM_001410794.1:c.*784_*785dup, NM_001410794.1:c.*783_*785dup, NM_001410794.1:c.*782_*785dup, NM_001410794.1:c.*781_*785dup, NM_001410794.1:c.*780_*785dup, NM_001410794.1:c.*779_*785dup, NM_001410794.1:c.*778_*785dup, NM_001410794.1:c.*777_*785dup, NM_001410794.1:c.*776_*785dup, NM_001410794.1:c.*775_*785dup, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410794.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*776_*785del, NM_001365819.1:c.*777_*785del, NM_001365819.1:c.*778_*785del, NM_001365819.1:c.*779_*785del, NM_001365819.1:c.*780_*785del, NM_001365819.1:c.*781_*785del, NM_001365819.1:c.*782_*785del, NM_001365819.1:c.*783_*785del, NM_001365819.1:c.*784_*785del, NM_001365819.1:c.*785del, NM_001365819.1:c.*785dup, NM_001365819.1:c.*784_*785dup, NM_001365819.1:c.*783_*785dup, NM_001365819.1:c.*782_*785dup, NM_001365819.1:c.*781_*785dup, NM_001365819.1:c.*780_*785dup, NM_001365819.1:c.*779_*785dup, NM_001365819.1:c.*778_*785dup, NM_001365819.1:c.*777_*785dup, NM_001365819.1:c.*776_*785dup, NM_001365819.1:c.*775_*785dup, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001365819.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*776_*785del, NM_001410795.1:c.*777_*785del, NM_001410795.1:c.*778_*785del, NM_001410795.1:c.*779_*785del, NM_001410795.1:c.*780_*785del, NM_001410795.1:c.*781_*785del, NM_001410795.1:c.*782_*785del, NM_001410795.1:c.*783_*785del, NM_001410795.1:c.*784_*785del, NM_001410795.1:c.*785del, NM_001410795.1:c.*785dup, NM_001410795.1:c.*784_*785dup, NM_001410795.1:c.*783_*785dup, NM_001410795.1:c.*782_*785dup, NM_001410795.1:c.*781_*785dup, NM_001410795.1:c.*780_*785dup, NM_001410795.1:c.*779_*785dup, NM_001410795.1:c.*778_*785dup, NM_001410795.1:c.*777_*785dup, NM_001410795.1:c.*776_*785dup, NM_001410795.1:c.*775_*785dup, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NM_001410795.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*776_*785del, XM_005261935.3:c.*777_*785del, XM_005261935.3:c.*778_*785del, XM_005261935.3:c.*779_*785del, XM_005261935.3:c.*780_*785del, XM_005261935.3:c.*781_*785del, XM_005261935.3:c.*782_*785del, XM_005261935.3:c.*783_*785del, XM_005261935.3:c.*784_*785del, XM_005261935.3:c.*785del, XM_005261935.3:c.*785dup, XM_005261935.3:c.*784_*785dup, XM_005261935.3:c.*783_*785dup, XM_005261935.3:c.*782_*785dup, XM_005261935.3:c.*781_*785dup, XM_005261935.3:c.*780_*785dup, XM_005261935.3:c.*779_*785dup, XM_005261935.3:c.*778_*785dup, XM_005261935.3:c.*777_*785dup, XM_005261935.3:c.*776_*785dup, XM_005261935.3:c.*775_*785dup, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_005261935.3:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*776_*785del, XM_047441454.1:c.*777_*785del, XM_047441454.1:c.*778_*785del, XM_047441454.1:c.*779_*785del, XM_047441454.1:c.*780_*785del, XM_047441454.1:c.*781_*785del, XM_047441454.1:c.*782_*785del, XM_047441454.1:c.*783_*785del, XM_047441454.1:c.*784_*785del, XM_047441454.1:c.*785del, XM_047441454.1:c.*785dup, XM_047441454.1:c.*784_*785dup, XM_047441454.1:c.*783_*785dup, XM_047441454.1:c.*782_*785dup, XM_047441454.1:c.*781_*785dup, XM_047441454.1:c.*780_*785dup, XM_047441454.1:c.*779_*785dup, XM_047441454.1:c.*778_*785dup, XM_047441454.1:c.*777_*785dup, XM_047441454.1:c.*776_*785dup, XM_047441454.1:c.*775_*785dup, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, XM_047441454.1:c.*785_*786insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

                        12.

                        rs1491297243 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->G,GT,GTCGT,GTGT,T,TCT,TT [Show Flanks]
                          Chromosome:
                          22:50446357 (GRCh38)
                          22:50884787 (GRCh37)
                          Canonical SPDI:
                          NC_000022.11:50446357::G,NC_000022.11:50446357::GT,NC_000022.11:50446357::GTCGT,NC_000022.11:50446357::GTGT,NC_000022.11:50446357::T,NC_000022.11:50446357::TCT,NC_000022.11:50446357::TT
                          Gene:
                          SBF1 (Varview)
                          Functional Consequence:
                          3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GT=0./0 (ALFA)
                          T=0.00366/6 (Korea1K)
                          HGVS:
                          NC_000022.11:g.50446357_50446358insG, NC_000022.11:g.50446357_50446358insGT, NC_000022.11:g.50446357_50446358insGTCGT, NC_000022.11:g.50446357_50446358insGTGT, NC_000022.11:g.50446357_50446358insT, NC_000022.11:g.50446357_50446358insTCT, NC_000022.11:g.50446357_50446358insTT, NC_000022.10:g.50884786_50884787insG, NC_000022.10:g.50884786_50884787insGT, NC_000022.10:g.50884786_50884787insGTCGT, NC_000022.10:g.50884786_50884787insGTGT, NC_000022.10:g.50884786_50884787insT, NC_000022.10:g.50884786_50884787insTCT, NC_000022.10:g.50884786_50884787insTT, NG_054883.1:g.108041_108042insG, NG_054883.1:g.108041_108042insGT, NG_054883.1:g.108041_108042insGTCGT, NG_054883.1:g.108041_108042insGTGT, NG_054883.1:g.108041_108042insT, NG_054883.1:g.108041_108042insTCT, NG_054883.1:g.108041_108042insTT, NG_041810.1:g.33714_33715insC, NG_041810.1:g.33714_33715insAC, NG_041810.1:g.33714_33715insACGAC, NG_041810.1:g.33714_33715insACAC, NG_041810.1:g.33714_33715insA, NG_041810.1:g.33714_33715insAGA, NG_041810.1:g.33714_33715insAA, NM_002972.4:c.*784_*785insC, NM_002972.4:c.*784_*785insAC, NM_002972.4:c.*784_*785insACGAC, NM_002972.4:c.*784_*785insACAC, NM_002972.4:c.*784_*785insA, NM_002972.4:c.*784_*785insAGA, NM_002972.4:c.*784_*785insAA, NM_002972.3:c.*784_*785insC, NM_002972.3:c.*784_*785insAC, NM_002972.3:c.*784_*785insACGAC, NM_002972.3:c.*784_*785insACAC, NM_002972.3:c.*784_*785insA, NM_002972.3:c.*784_*785insAGA, NM_002972.3:c.*784_*785insAA, NM_002972.2:c.*784_*785insC, NM_002972.2:c.*784_*785insAC, NM_002972.2:c.*784_*785insACGAC, NM_002972.2:c.*784_*785insACAC, NM_002972.2:c.*784_*785insA, NM_002972.2:c.*784_*785insAGA, NM_002972.2:c.*784_*785insAA, NM_001410794.1:c.*784_*785insC, NM_001410794.1:c.*784_*785insAC, NM_001410794.1:c.*784_*785insACGAC, NM_001410794.1:c.*784_*785insACAC, NM_001410794.1:c.*784_*785insA, NM_001410794.1:c.*784_*785insAGA, NM_001410794.1:c.*784_*785insAA, NM_001365819.1:c.*784_*785insC, NM_001365819.1:c.*784_*785insAC, NM_001365819.1:c.*784_*785insACGAC, NM_001365819.1:c.*784_*785insACAC, NM_001365819.1:c.*784_*785insA, NM_001365819.1:c.*784_*785insAGA, NM_001365819.1:c.*784_*785insAA, NM_001410795.1:c.*784_*785insC, NM_001410795.1:c.*784_*785insAC, NM_001410795.1:c.*784_*785insACGAC, NM_001410795.1:c.*784_*785insACAC, NM_001410795.1:c.*784_*785insA, NM_001410795.1:c.*784_*785insAGA, NM_001410795.1:c.*784_*785insAA, XM_005261935.3:c.*784_*785insC, XM_005261935.3:c.*784_*785insAC, XM_005261935.3:c.*784_*785insACGAC, XM_005261935.3:c.*784_*785insACAC, XM_005261935.3:c.*784_*785insA, XM_005261935.3:c.*784_*785insAGA, XM_005261935.3:c.*784_*785insAA, XM_047441454.1:c.*784_*785insC, XM_047441454.1:c.*784_*785insAC, XM_047441454.1:c.*784_*785insACGAC, XM_047441454.1:c.*784_*785insACAC, XM_047441454.1:c.*784_*785insA, XM_047441454.1:c.*784_*785insAGA, XM_047441454.1:c.*784_*785insAA

                          13.

                          rs1491267815 has merged into rs57951967 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                            Chromosome:
                            22:50452732 (GRCh38)
                            22:50891161 (GRCh37)
                            Canonical SPDI:
                            NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:50452723:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                            Gene:
                            SBF1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AAAAAAAAAA=0./0 (ALFA)
                            -=0.45/18 (GENOME_DK)
                            HGVS:
                            NC_000022.11:g.50452732_50452751del, NC_000022.11:g.50452734_50452751del, NC_000022.11:g.50452735_50452751del, NC_000022.11:g.50452737_50452751del, NC_000022.11:g.50452738_50452751del, NC_000022.11:g.50452739_50452751del, NC_000022.11:g.50452740_50452751del, NC_000022.11:g.50452741_50452751del, NC_000022.11:g.50452742_50452751del, NC_000022.11:g.50452743_50452751del, NC_000022.11:g.50452745_50452751del, NC_000022.11:g.50452746_50452751del, NC_000022.11:g.50452747_50452751del, NC_000022.11:g.50452748_50452751del, NC_000022.11:g.50452749_50452751del, NC_000022.11:g.50452750_50452751del, NC_000022.11:g.50452751del, NC_000022.11:g.50452751dup, NC_000022.11:g.50452750_50452751dup, NC_000022.11:g.50452749_50452751dup, NC_000022.11:g.50452748_50452751dup, NC_000022.11:g.50452747_50452751dup, NC_000022.11:g.50452746_50452751dup, NC_000022.11:g.50452745_50452751dup, NC_000022.11:g.50452744_50452751dup, NC_000022.11:g.50452743_50452751dup, NC_000022.11:g.50452742_50452751dup, NC_000022.11:g.50452751_50452752insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.50891161_50891180del, NC_000022.10:g.50891163_50891180del, NC_000022.10:g.50891164_50891180del, NC_000022.10:g.50891166_50891180del, NC_000022.10:g.50891167_50891180del, NC_000022.10:g.50891168_50891180del, NC_000022.10:g.50891169_50891180del, NC_000022.10:g.50891170_50891180del, NC_000022.10:g.50891171_50891180del, NC_000022.10:g.50891172_50891180del, NC_000022.10:g.50891174_50891180del, NC_000022.10:g.50891175_50891180del, NC_000022.10:g.50891176_50891180del, NC_000022.10:g.50891177_50891180del, NC_000022.10:g.50891178_50891180del, NC_000022.10:g.50891179_50891180del, NC_000022.10:g.50891180del, NC_000022.10:g.50891180dup, NC_000022.10:g.50891179_50891180dup, NC_000022.10:g.50891178_50891180dup, NC_000022.10:g.50891177_50891180dup, NC_000022.10:g.50891176_50891180dup, NC_000022.10:g.50891175_50891180dup, NC_000022.10:g.50891174_50891180dup, NC_000022.10:g.50891173_50891180dup, NC_000022.10:g.50891172_50891180dup, NC_000022.10:g.50891171_50891180dup, NC_000022.10:g.50891180_50891181insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_041810.1:g.27329_27348del, NG_041810.1:g.27331_27348del, NG_041810.1:g.27332_27348del, NG_041810.1:g.27334_27348del, NG_041810.1:g.27335_27348del, NG_041810.1:g.27336_27348del, NG_041810.1:g.27337_27348del, NG_041810.1:g.27338_27348del, NG_041810.1:g.27339_27348del, NG_041810.1:g.27340_27348del, NG_041810.1:g.27342_27348del, NG_041810.1:g.27343_27348del, NG_041810.1:g.27344_27348del, NG_041810.1:g.27345_27348del, NG_041810.1:g.27346_27348del, NG_041810.1:g.27347_27348del, NG_041810.1:g.27348del, NG_041810.1:g.27348dup, NG_041810.1:g.27347_27348dup, NG_041810.1:g.27346_27348dup, NG_041810.1:g.27345_27348dup, NG_041810.1:g.27344_27348dup, NG_041810.1:g.27343_27348dup, NG_041810.1:g.27342_27348dup, NG_041810.1:g.27341_27348dup, NG_041810.1:g.27340_27348dup, NG_041810.1:g.27339_27348dup, NG_041810.1:g.27348_27349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                            14.

                            rs1491223694 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->TGGGG,TGGGGGTGGGG [Show Flanks]
                              Chromosome:
                              22:50444542 (GRCh38)
                              22:50882972 (GRCh37)
                              Canonical SPDI:
                              NC_000022.11:50444542:GGGG:GGGGTGGGG,NC_000022.11:50444542:GGGG:GGGGTGGGGGTGGGG
                              Gene:
                              SBF1 (Varview), PPP6R2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGGTGGGGGTGGGG=0./0 (ALFA)
                              GGGGT=0.040152/665 (TOMMO)
                              GGGGT=0.060134/108 (Korea1K)
                              GGGGT=0.063308/6573 (GnomAD)
                              HGVS:
                              NC_000022.11:g.50444543_50444546G[4]TGGGG[1], NC_000022.11:g.50444543_50444546GGGGTG[2]GGG[1], NC_000022.10:g.50882972_50882975G[4]TGGGG[1], NC_000022.10:g.50882972_50882975GGGGTG[2]GGG[1], NG_054883.1:g.106227_106230G[4]TGGGG[1], NG_054883.1:g.106227_106230GGGGTG[2]GGG[1], NM_014678.5:c.*296_*299G[4]TGGGG[1], NM_014678.5:c.*296_*299GGGGTG[2]GGG[1], NM_014678.4:c.*296_*299G[4]TGGGG[1], NM_014678.4:c.*296_*299GGGGTG[2]GGG[1], NM_001351643.2:c.*296_*299G[4]TGGGG[1], NM_001351643.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351643.1:c.*296_*299G[4]TGGGG[1], NM_001351643.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351645.2:c.*296_*299G[4]TGGGG[1], NM_001351645.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351645.1:c.*296_*299G[4]TGGGG[1], NM_001351645.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351642.2:c.*296_*299G[4]TGGGG[1], NM_001351642.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351642.1:c.*296_*299G[4]TGGGG[1], NM_001351642.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351641.2:c.*296_*299G[4]TGGGG[1], NM_001351641.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351641.1:c.*296_*299G[4]TGGGG[1], NM_001351641.1:c.*296_*299GGGGTG[2]GGG[1], NM_001242898.2:c.*296_*299G[4]TGGGG[1], NM_001242898.2:c.*296_*299GGGGTG[2]GGG[1], NM_001242898.1:c.*296_*299G[4]TGGGG[1], NM_001242898.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351647.2:c.*296_*299G[4]TGGGG[1], NM_001351647.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351647.1:c.*296_*299G[4]TGGGG[1], NM_001351647.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351644.2:c.*296_*299G[4]TGGGG[1], NM_001351644.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351644.1:c.*296_*299G[4]TGGGG[1], NM_001351644.1:c.*296_*299GGGGTG[2]GGG[1], NM_001242899.2:c.*296_*299G[4]TGGGG[1], NM_001242899.2:c.*296_*299GGGGTG[2]GGG[1], NM_001242899.1:c.*296_*299G[4]TGGGG[1], NM_001242899.1:c.*296_*299GGGGTG[2]GGG[1], NM_001242900.2:c.*310_*313G[4]TGGGG[1], NM_001242900.2:c.*310_*313GGGGTG[2]GGG[1], NM_001242900.1:c.*310_*313G[4]TGGGG[1], NM_001242900.1:c.*310_*313GGGGTG[2]GGG[1], NM_001351646.2:c.*296_*299G[4]TGGGG[1], NM_001351646.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351646.1:c.*296_*299G[4]TGGGG[1], NM_001351646.1:c.*296_*299GGGGTG[2]GGG[1], NM_001351648.2:c.*296_*299G[4]TGGGG[1], NM_001351648.2:c.*296_*299GGGGTG[2]GGG[1], NM_001351648.1:c.*296_*299G[4]TGGGG[1], NM_001351648.1:c.*296_*299GGGGTG[2]GGG[1], NM_001365836.1:c.*296_*299G[4]TGGGG[1], NM_001365836.1:c.*296_*299GGGGTG[2]GGG[1], NG_041810.1:g.35526_35529C[4]ACCCC[1], NG_041810.1:g.35526_35529CCCCAC[2]CCC[1], XM_011530736.4:c.*296_*299G[4]TGGGG[1], XM_011530736.4:c.*296_*299GGGGTG[2]GGG[1], XM_011530736.3:c.*296_*299G[4]TGGGG[1], XM_011530736.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530736.2:c.*296_*299G[4]TGGGG[1], XM_011530736.2:c.*296_*299GGGGTG[2]GGG[1], XM_006724431.4:c.*296_*299G[4]TGGGG[1], XM_006724431.4:c.*296_*299GGGGTG[2]GGG[1], XM_006724431.3:c.*296_*299G[4]TGGGG[1], XM_006724431.3:c.*296_*299GGGGTG[2]GGG[1], XM_006724431.2:c.*296_*299G[4]TGGGG[1], XM_006724431.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530737.3:c.*296_*299G[4]TGGGG[1], XM_011530737.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530737.2:c.*296_*299G[4]TGGGG[1], XM_011530737.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530732.3:c.*296_*299G[4]TGGGG[1], XM_011530732.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530732.2:c.*296_*299G[4]TGGGG[1], XM_011530732.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530734.3:c.*296_*299G[4]TGGGG[1], XM_011530734.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530734.2:c.*296_*299G[4]TGGGG[1], XM_011530734.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530721.3:c.*296_*299G[4]TGGGG[1], XM_011530721.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530721.2:c.*296_*299G[4]TGGGG[1], XM_011530721.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530720.3:c.*296_*299G[4]TGGGG[1], XM_011530720.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530720.2:c.*296_*299G[4]TGGGG[1], XM_011530720.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530722.3:c.*296_*299G[4]TGGGG[1], XM_011530722.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530722.2:c.*296_*299G[4]TGGGG[1], XM_011530722.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530723.3:c.*296_*299G[4]TGGGG[1], XM_011530723.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530723.2:c.*296_*299G[4]TGGGG[1], XM_011530723.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530724.3:c.*296_*299G[4]TGGGG[1], XM_011530724.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530724.2:c.*296_*299G[4]TGGGG[1], XM_011530724.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530739.3:c.*296_*299G[4]TGGGG[1], XM_011530739.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530739.2:c.*296_*299G[4]TGGGG[1], XM_011530739.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530726.3:c.*296_*299G[4]TGGGG[1], XM_011530726.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530726.2:c.*296_*299G[4]TGGGG[1], XM_011530726.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530727.3:c.*296_*299G[4]TGGGG[1], XM_011530727.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530727.2:c.*296_*299G[4]TGGGG[1], XM_011530727.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530728.3:c.*296_*299G[4]TGGGG[1], XM_011530728.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530728.2:c.*296_*299G[4]TGGGG[1], XM_011530728.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530730.3:c.*296_*299G[4]TGGGG[1], XM_011530730.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530730.2:c.*296_*299G[4]TGGGG[1], XM_011530730.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530729.3:c.*296_*299G[4]TGGGG[1], XM_011530729.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530729.2:c.*296_*299G[4]TGGGG[1], XM_011530729.2:c.*296_*299GGGGTG[2]GGG[1], XM_011530740.3:c.*296_*299G[4]TGGGG[1], XM_011530740.3:c.*296_*299GGGGTG[2]GGG[1], XM_011530740.2:c.*296_*299G[4]TGGGG[1], XM_011530740.2:c.*296_*299GGGGTG[2]GGG[1], XM_017029120.2:c.*296_*299G[4]TGGGG[1], XM_017029120.2:c.*296_*299GGGGTG[2]GGG[1], XM_017029120.1:c.*296_*299G[4]TGGGG[1], XM_017029120.1:c.*296_*299GGGGTG[2]GGG[1], XM_024452306.2:c.*296_*299G[4]TGGGG[1], XM_024452306.2:c.*296_*299GGGGTG[2]GGG[1], XM_024452306.1:c.*296_*299G[4]TGGGG[1], XM_024452306.1:c.*296_*299GGGGTG[2]GGG[1], XM_017029116.2:c.*296_*299G[4]TGGGG[1], XM_017029116.2:c.*296_*299GGGGTG[2]GGG[1], XM_017029116.1:c.*296_*299G[4]TGGGG[1], XM_017029116.1:c.*296_*299GGGGTG[2]GGG[1], XM_011530731.2:c.*296_*299G[4]TGGGG[1], XM_011530731.2:c.*296_*299GGGGTG[2]GGG[1], XM_017029133.2:c.*296_*299G[4]TGGGG[1], XM_017029133.2:c.*296_*299GGGGTG[2]GGG[1], XM_017029133.1:c.*296_*299G[4]TGGGG[1], XM_017029133.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441645.1:c.*296_*299G[4]TGGGG[1], XM_047441645.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441659.1:c.*296_*299G[4]TGGGG[1], XM_047441659.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441653.1:c.*296_*299G[4]TGGGG[1], XM_047441653.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441648.1:c.*296_*299G[4]TGGGG[1], XM_047441648.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441646.1:c.*296_*299G[4]TGGGG[1], XM_047441646.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441642.1:c.*296_*299G[4]TGGGG[1], XM_047441642.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441647.1:c.*296_*299G[4]TGGGG[1], XM_047441647.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441651.1:c.*296_*299G[4]TGGGG[1], XM_047441651.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441655.1:c.*296_*299G[4]TGGGG[1], XM_047441655.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441656.1:c.*296_*299G[4]TGGGG[1], XM_047441656.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441658.1:c.*296_*299G[4]TGGGG[1], XM_047441658.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441643.1:c.*296_*299G[4]TGGGG[1], XM_047441643.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441644.1:c.*296_*299G[4]TGGGG[1], XM_047441644.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441650.1:c.*296_*299G[4]TGGGG[1], XM_047441650.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441649.1:c.*296_*299G[4]TGGGG[1], XM_047441649.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441652.1:c.*296_*299G[4]TGGGG[1], XM_047441652.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441654.1:c.*296_*299G[4]TGGGG[1], XM_047441654.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441660.1:c.*296_*299G[4]TGGGG[1], XM_047441660.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441657.1:c.*296_*299G[4]TGGGG[1], XM_047441657.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441661.1:c.*296_*299G[4]TGGGG[1], XM_047441661.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441638.1:c.*296_*299G[4]TGGGG[1], XM_047441638.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441639.1:c.*296_*299G[4]TGGGG[1], XM_047441639.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441641.1:c.*296_*299G[4]TGGGG[1], XM_047441641.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441662.1:c.*296_*299G[4]TGGGG[1], XM_047441662.1:c.*296_*299GGGGTG[2]GGG[1], XM_047441663.1:c.*296_*299G[4]TGGGG[1], XM_047441663.1:c.*296_*299GGGGTG[2]GGG[1]

                              15.

                              rs1491143294 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TC>- [Show Flanks]
                                Chromosome:
                                22:50446356 (GRCh38)
                                22:50884785 (GRCh37)
                                Canonical SPDI:
                                NC_000022.11:50446355:TC:
                                Gene:
                                SBF1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1491137608 has merged into rs35628474 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
                                  Chromosome:
                                  22:50461335 (GRCh38)
                                  22:50899764 (GRCh37)
                                  Canonical SPDI:
                                  NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGG,NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGGG,NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGGGG,NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000022.11:50461326:GGGGGGGGGGG:GGGGGGGGGGGGGG
                                  Gene:
                                  SBF1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Clinical significance:
                                  benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGGGGGGGGGGG=0./0 (ALFA)
                                  -=0.00264/4 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1491066067 has merged into rs34079114 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    22:50444624 (GRCh38)
                                    22:50883053 (GRCh37)
                                    Canonical SPDI:
                                    NC_000022.11:50444618:TTTTTTTTTT:TTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:50444618:TTTTTTTTTT:TTTTTTTTTTTTTTT
                                    Gene:
                                    SBF1 (Varview), PPP6R2 (Varview)
                                    Functional Consequence:
                                    downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTT=0./0 (ALFA)
                                    -=0.375/15 (GENOME_DK)
                                    -=0.4144/247 (NorthernSweden)
                                    -=0.4523/825 (Korea1K)
                                    T=0.4922/2465 (1000Genomes)
                                    HGVS:
                                    NC_000022.11:g.50444624_50444628del, NC_000022.11:g.50444625_50444628del, NC_000022.11:g.50444626_50444628del, NC_000022.11:g.50444627_50444628del, NC_000022.11:g.50444628del, NC_000022.11:g.50444628dup, NC_000022.11:g.50444627_50444628dup, NC_000022.11:g.50444626_50444628dup, NC_000022.11:g.50444624_50444628dup, NC_000022.10:g.50883053_50883057del, NC_000022.10:g.50883054_50883057del, NC_000022.10:g.50883055_50883057del, NC_000022.10:g.50883056_50883057del, NC_000022.10:g.50883057del, NC_000022.10:g.50883057dup, NC_000022.10:g.50883056_50883057dup, NC_000022.10:g.50883055_50883057dup, NC_000022.10:g.50883053_50883057dup, NG_054883.1:g.106308_106312del, NG_054883.1:g.106309_106312del, NG_054883.1:g.106310_106312del, NG_054883.1:g.106311_106312del, NG_054883.1:g.106312del, NG_054883.1:g.106312dup, NG_054883.1:g.106311_106312dup, NG_054883.1:g.106310_106312dup, NG_054883.1:g.106308_106312dup, NM_014678.5:c.*377_*381del, NM_014678.5:c.*378_*381del, NM_014678.5:c.*379_*381del, NM_014678.5:c.*380_*381del, NM_014678.5:c.*381del, NM_014678.5:c.*381dup, NM_014678.5:c.*380_*381dup, NM_014678.5:c.*379_*381dup, NM_014678.5:c.*377_*381dup, NM_014678.4:c.*377_*381del, NM_014678.4:c.*378_*381del, NM_014678.4:c.*379_*381del, NM_014678.4:c.*380_*381del, NM_014678.4:c.*381del, NM_014678.4:c.*381dup, NM_014678.4:c.*380_*381dup, NM_014678.4:c.*379_*381dup, NM_014678.4:c.*377_*381dup, NM_001351643.2:c.*377_*381del, NM_001351643.2:c.*378_*381del, NM_001351643.2:c.*379_*381del, NM_001351643.2:c.*380_*381del, NM_001351643.2:c.*381del, NM_001351643.2:c.*381dup, NM_001351643.2:c.*380_*381dup, NM_001351643.2:c.*379_*381dup, NM_001351643.2:c.*377_*381dup, NM_001351643.1:c.*377_*381del, NM_001351643.1:c.*378_*381del, NM_001351643.1:c.*379_*381del, NM_001351643.1:c.*380_*381del, NM_001351643.1:c.*381del, NM_001351643.1:c.*381dup, NM_001351643.1:c.*380_*381dup, NM_001351643.1:c.*379_*381dup, NM_001351643.1:c.*377_*381dup, NM_001351645.2:c.*377_*381del, NM_001351645.2:c.*378_*381del, NM_001351645.2:c.*379_*381del, NM_001351645.2:c.*380_*381del, NM_001351645.2:c.*381del, NM_001351645.2:c.*381dup, NM_001351645.2:c.*380_*381dup, NM_001351645.2:c.*379_*381dup, NM_001351645.2:c.*377_*381dup, NM_001351645.1:c.*377_*381del, NM_001351645.1:c.*378_*381del, NM_001351645.1:c.*379_*381del, NM_001351645.1:c.*380_*381del, NM_001351645.1:c.*381del, NM_001351645.1:c.*381dup, NM_001351645.1:c.*380_*381dup, NM_001351645.1:c.*379_*381dup, NM_001351645.1:c.*377_*381dup, NM_001351642.2:c.*377_*381del, NM_001351642.2:c.*378_*381del, NM_001351642.2:c.*379_*381del, NM_001351642.2:c.*380_*381del, NM_001351642.2:c.*381del, NM_001351642.2:c.*381dup, NM_001351642.2:c.*380_*381dup, NM_001351642.2:c.*379_*381dup, NM_001351642.2:c.*377_*381dup, NM_001351642.1:c.*377_*381del, NM_001351642.1:c.*378_*381del, NM_001351642.1:c.*379_*381del, NM_001351642.1:c.*380_*381del, NM_001351642.1:c.*381del, NM_001351642.1:c.*381dup, NM_001351642.1:c.*380_*381dup, NM_001351642.1:c.*379_*381dup, NM_001351642.1:c.*377_*381dup, NM_001351641.2:c.*377_*381del, NM_001351641.2:c.*378_*381del, NM_001351641.2:c.*379_*381del, NM_001351641.2:c.*380_*381del, NM_001351641.2:c.*381del, NM_001351641.2:c.*381dup, NM_001351641.2:c.*380_*381dup, NM_001351641.2:c.*379_*381dup, NM_001351641.2:c.*377_*381dup, NM_001351641.1:c.*377_*381del, NM_001351641.1:c.*378_*381del, NM_001351641.1:c.*379_*381del, NM_001351641.1:c.*380_*381del, NM_001351641.1:c.*381del, NM_001351641.1:c.*381dup, NM_001351641.1:c.*380_*381dup, NM_001351641.1:c.*379_*381dup, NM_001351641.1:c.*377_*381dup, NM_001242898.2:c.*377_*381del, NM_001242898.2:c.*378_*381del, NM_001242898.2:c.*379_*381del, NM_001242898.2:c.*380_*381del, NM_001242898.2:c.*381del, NM_001242898.2:c.*381dup, NM_001242898.2:c.*380_*381dup, NM_001242898.2:c.*379_*381dup, NM_001242898.2:c.*377_*381dup, NM_001242898.1:c.*377_*381del, NM_001242898.1:c.*378_*381del, NM_001242898.1:c.*379_*381del, NM_001242898.1:c.*380_*381del, NM_001242898.1:c.*381del, NM_001242898.1:c.*381dup, NM_001242898.1:c.*380_*381dup, NM_001242898.1:c.*379_*381dup, NM_001242898.1:c.*377_*381dup, NM_001351647.2:c.*377_*381del, NM_001351647.2:c.*378_*381del, NM_001351647.2:c.*379_*381del, NM_001351647.2:c.*380_*381del, NM_001351647.2:c.*381del, NM_001351647.2:c.*381dup, NM_001351647.2:c.*380_*381dup, NM_001351647.2:c.*379_*381dup, NM_001351647.2:c.*377_*381dup, NM_001351647.1:c.*377_*381del, NM_001351647.1:c.*378_*381del, NM_001351647.1:c.*379_*381del, NM_001351647.1:c.*380_*381del, NM_001351647.1:c.*381del, NM_001351647.1:c.*381dup, NM_001351647.1:c.*380_*381dup, NM_001351647.1:c.*379_*381dup, NM_001351647.1:c.*377_*381dup, NM_001351644.2:c.*377_*381del, NM_001351644.2:c.*378_*381del, NM_001351644.2:c.*379_*381del, NM_001351644.2:c.*380_*381del, NM_001351644.2:c.*381del, NM_001351644.2:c.*381dup, NM_001351644.2:c.*380_*381dup, NM_001351644.2:c.*379_*381dup, NM_001351644.2:c.*377_*381dup, NM_001351644.1:c.*377_*381del, NM_001351644.1:c.*378_*381del, NM_001351644.1:c.*379_*381del, NM_001351644.1:c.*380_*381del, NM_001351644.1:c.*381del, NM_001351644.1:c.*381dup, NM_001351644.1:c.*380_*381dup, NM_001351644.1:c.*379_*381dup, NM_001351644.1:c.*377_*381dup, NM_001242899.2:c.*377_*381del, NM_001242899.2:c.*378_*381del, NM_001242899.2:c.*379_*381del, NM_001242899.2:c.*380_*381del, NM_001242899.2:c.*381del, NM_001242899.2:c.*381dup, NM_001242899.2:c.*380_*381dup, NM_001242899.2:c.*379_*381dup, NM_001242899.2:c.*377_*381dup, NM_001242899.1:c.*377_*381del, NM_001242899.1:c.*378_*381del, NM_001242899.1:c.*379_*381del, NM_001242899.1:c.*380_*381del, NM_001242899.1:c.*381del, NM_001242899.1:c.*381dup, NM_001242899.1:c.*380_*381dup, NM_001242899.1:c.*379_*381dup, NM_001242899.1:c.*377_*381dup, NM_001242900.2:c.*391_*395del, NM_001242900.2:c.*392_*395del, NM_001242900.2:c.*393_*395del, NM_001242900.2:c.*394_*395del, NM_001242900.2:c.*395del, NM_001242900.2:c.*395dup, NM_001242900.2:c.*394_*395dup, NM_001242900.2:c.*393_*395dup, NM_001242900.2:c.*391_*395dup, NM_001242900.1:c.*391_*395del, NM_001242900.1:c.*392_*395del, NM_001242900.1:c.*393_*395del, NM_001242900.1:c.*394_*395del, NM_001242900.1:c.*395del, NM_001242900.1:c.*395dup, NM_001242900.1:c.*394_*395dup, NM_001242900.1:c.*393_*395dup, NM_001242900.1:c.*391_*395dup, NM_001351646.2:c.*377_*381del, NM_001351646.2:c.*378_*381del, NM_001351646.2:c.*379_*381del, NM_001351646.2:c.*380_*381del, NM_001351646.2:c.*381del, NM_001351646.2:c.*381dup, NM_001351646.2:c.*380_*381dup, NM_001351646.2:c.*379_*381dup, NM_001351646.2:c.*377_*381dup, NM_001351646.1:c.*377_*381del, NM_001351646.1:c.*378_*381del, NM_001351646.1:c.*379_*381del, NM_001351646.1:c.*380_*381del, NM_001351646.1:c.*381del, NM_001351646.1:c.*381dup, NM_001351646.1:c.*380_*381dup, NM_001351646.1:c.*379_*381dup, NM_001351646.1:c.*377_*381dup, NM_001351648.2:c.*377_*381del, NM_001351648.2:c.*378_*381del, NM_001351648.2:c.*379_*381del, NM_001351648.2:c.*380_*381del, NM_001351648.2:c.*381del, NM_001351648.2:c.*381dup, NM_001351648.2:c.*380_*381dup, NM_001351648.2:c.*379_*381dup, NM_001351648.2:c.*377_*381dup, NM_001351648.1:c.*377_*381del, NM_001351648.1:c.*378_*381del, NM_001351648.1:c.*379_*381del, NM_001351648.1:c.*380_*381del, NM_001351648.1:c.*381del, NM_001351648.1:c.*381dup, NM_001351648.1:c.*380_*381dup, NM_001351648.1:c.*379_*381dup, NM_001351648.1:c.*377_*381dup, NM_001365836.1:c.*377_*381del, NM_001365836.1:c.*378_*381del, NM_001365836.1:c.*379_*381del, NM_001365836.1:c.*380_*381del, NM_001365836.1:c.*381del, NM_001365836.1:c.*381dup, NM_001365836.1:c.*380_*381dup, NM_001365836.1:c.*379_*381dup, NM_001365836.1:c.*377_*381dup, NG_041810.1:g.35449_35453del, NG_041810.1:g.35450_35453del, NG_041810.1:g.35451_35453del, NG_041810.1:g.35452_35453del, NG_041810.1:g.35453del, NG_041810.1:g.35453dup, NG_041810.1:g.35452_35453dup, NG_041810.1:g.35451_35453dup, NG_041810.1:g.35449_35453dup, XM_011530736.4:c.*377_*381del, XM_011530736.4:c.*378_*381del, XM_011530736.4:c.*379_*381del, XM_011530736.4:c.*380_*381del, XM_011530736.4:c.*381del, XM_011530736.4:c.*381dup, XM_011530736.4:c.*380_*381dup, XM_011530736.4:c.*379_*381dup, XM_011530736.4:c.*377_*381dup, XM_011530736.3:c.*377_*381del, XM_011530736.3:c.*378_*381del, XM_011530736.3:c.*379_*381del, XM_011530736.3:c.*380_*381del, XM_011530736.3:c.*381del, XM_011530736.3:c.*381dup, XM_011530736.3:c.*380_*381dup, XM_011530736.3:c.*379_*381dup, XM_011530736.3:c.*377_*381dup, XM_011530736.2:c.*377_*381del, XM_011530736.2:c.*378_*381del, XM_011530736.2:c.*379_*381del, XM_011530736.2:c.*380_*381del, XM_011530736.2:c.*381del, XM_011530736.2:c.*381dup, XM_011530736.2:c.*380_*381dup, XM_011530736.2:c.*379_*381dup, XM_011530736.2:c.*377_*381dup, XM_006724431.4:c.*377_*381del, XM_006724431.4:c.*378_*381del, XM_006724431.4:c.*379_*381del, XM_006724431.4:c.*380_*381del, XM_006724431.4:c.*381del, XM_006724431.4:c.*381dup, XM_006724431.4:c.*380_*381dup, XM_006724431.4:c.*379_*381dup, XM_006724431.4:c.*377_*381dup, XM_006724431.3:c.*377_*381del, XM_006724431.3:c.*378_*381del, XM_006724431.3:c.*379_*381del, XM_006724431.3:c.*380_*381del, XM_006724431.3:c.*381del, XM_006724431.3:c.*381dup, XM_006724431.3:c.*380_*381dup, XM_006724431.3:c.*379_*381dup, XM_006724431.3:c.*377_*381dup, XM_006724431.2:c.*377_*381del, XM_006724431.2:c.*378_*381del, XM_006724431.2:c.*379_*381del, XM_006724431.2:c.*380_*381del, XM_006724431.2:c.*381del, XM_006724431.2:c.*381dup, XM_006724431.2:c.*380_*381dup, XM_006724431.2:c.*379_*381dup, XM_006724431.2:c.*377_*381dup, XM_011530737.3:c.*377_*381del, XM_011530737.3:c.*378_*381del, XM_011530737.3:c.*379_*381del, XM_011530737.3:c.*380_*381del, XM_011530737.3:c.*381del, XM_011530737.3:c.*381dup, XM_011530737.3:c.*380_*381dup, XM_011530737.3:c.*379_*381dup, XM_011530737.3:c.*377_*381dup, XM_011530737.2:c.*377_*381del, XM_011530737.2:c.*378_*381del, XM_011530737.2:c.*379_*381del, XM_011530737.2:c.*380_*381del, XM_011530737.2:c.*381del, XM_011530737.2:c.*381dup, XM_011530737.2:c.*380_*381dup, XM_011530737.2:c.*379_*381dup, XM_011530737.2:c.*377_*381dup, XM_011530732.3:c.*377_*381del, XM_011530732.3:c.*378_*381del, XM_011530732.3:c.*379_*381del, XM_011530732.3:c.*380_*381del, XM_011530732.3:c.*381del, XM_011530732.3:c.*381dup, XM_011530732.3:c.*380_*381dup, XM_011530732.3:c.*379_*381dup, XM_011530732.3:c.*377_*381dup, XM_011530732.2:c.*377_*381del, XM_011530732.2:c.*378_*381del, XM_011530732.2:c.*379_*381del, XM_011530732.2:c.*380_*381del, XM_011530732.2:c.*381del, XM_011530732.2:c.*381dup, XM_011530732.2:c.*380_*381dup, XM_011530732.2:c.*379_*381dup, XM_011530732.2:c.*377_*381dup, XM_011530734.3:c.*377_*381del, XM_011530734.3:c.*378_*381del, XM_011530734.3:c.*379_*381del, XM_011530734.3:c.*380_*381del, XM_011530734.3:c.*381del, XM_011530734.3:c.*381dup, XM_011530734.3:c.*380_*381dup, XM_011530734.3:c.*379_*381dup, XM_011530734.3:c.*377_*381dup, XM_011530734.2:c.*377_*381del, XM_011530734.2:c.*378_*381del, XM_011530734.2:c.*379_*381del, XM_011530734.2:c.*380_*381del, XM_011530734.2:c.*381del, XM_011530734.2:c.*381dup, XM_011530734.2:c.*380_*381dup, XM_011530734.2:c.*379_*381dup, XM_011530734.2:c.*377_*381dup, XM_011530721.3:c.*377_*381del, XM_011530721.3:c.*378_*381del, XM_011530721.3:c.*379_*381del, XM_011530721.3:c.*380_*381del, XM_011530721.3:c.*381del, XM_011530721.3:c.*381dup, XM_011530721.3:c.*380_*381dup, XM_011530721.3:c.*379_*381dup, XM_011530721.3:c.*377_*381dup, XM_011530721.2:c.*377_*381del, XM_011530721.2:c.*378_*381del, XM_011530721.2:c.*379_*381del, XM_011530721.2:c.*380_*381del, XM_011530721.2:c.*381del, XM_011530721.2:c.*381dup, XM_011530721.2:c.*380_*381dup, XM_011530721.2:c.*379_*381dup, XM_011530721.2:c.*377_*381dup, XM_011530720.3:c.*377_*381del, XM_011530720.3:c.*378_*381del, XM_011530720.3:c.*379_*381del, XM_011530720.3:c.*380_*381del, XM_011530720.3:c.*381del, XM_011530720.3:c.*381dup, XM_011530720.3:c.*380_*381dup, XM_011530720.3:c.*379_*381dup, XM_011530720.3:c.*377_*381dup, XM_011530720.2:c.*377_*381del, XM_011530720.2:c.*378_*381del, XM_011530720.2:c.*379_*381del, XM_011530720.2:c.*380_*381del, XM_011530720.2:c.*381del, XM_011530720.2:c.*381dup, XM_011530720.2:c.*380_*381dup, XM_011530720.2:c.*379_*381dup, XM_011530720.2:c.*377_*381dup, XM_011530722.3:c.*377_*381del, XM_011530722.3:c.*378_*381del, XM_011530722.3:c.*379_*381del, XM_011530722.3:c.*380_*381del, XM_011530722.3:c.*381del, XM_011530722.3:c.*381dup, XM_011530722.3:c.*380_*381dup, XM_011530722.3:c.*379_*381dup, XM_011530722.3:c.*377_*381dup, XM_011530722.2:c.*377_*381del, XM_011530722.2:c.*378_*381del, XM_011530722.2:c.*379_*381del, XM_011530722.2:c.*380_*381del, XM_011530722.2:c.*381del, XM_011530722.2:c.*381dup, XM_011530722.2:c.*380_*381dup, XM_011530722.2:c.*379_*381dup, XM_011530722.2:c.*377_*381dup, XM_011530723.3:c.*377_*381del, XM_011530723.3:c.*378_*381del, XM_011530723.3:c.*379_*381del, XM_011530723.3:c.*380_*381del, XM_011530723.3:c.*381del, XM_011530723.3:c.*381dup, XM_011530723.3:c.*380_*381dup, XM_011530723.3:c.*379_*381dup, XM_011530723.3:c.*377_*381dup, XM_011530723.2:c.*377_*381del, XM_011530723.2:c.*378_*381del, XM_011530723.2:c.*379_*381del, XM_011530723.2:c.*380_*381del, XM_011530723.2:c.*381del, XM_011530723.2:c.*381dup, XM_011530723.2:c.*380_*381dup, XM_011530723.2:c.*379_*381dup, XM_011530723.2:c.*377_*381dup, XM_011530724.3:c.*377_*381del, XM_011530724.3:c.*378_*381del, XM_011530724.3:c.*379_*381del, XM_011530724.3:c.*380_*381del, XM_011530724.3:c.*381del, XM_011530724.3:c.*381dup, XM_011530724.3:c.*380_*381dup, XM_011530724.3:c.*379_*381dup, XM_011530724.3:c.*377_*381dup, XM_011530724.2:c.*377_*381del, XM_011530724.2:c.*378_*381del, XM_011530724.2:c.*379_*381del, XM_011530724.2:c.*380_*381del, XM_011530724.2:c.*381del, XM_011530724.2:c.*381dup, XM_011530724.2:c.*380_*381dup, XM_011530724.2:c.*379_*381dup, XM_011530724.2:c.*377_*381dup, XM_011530739.3:c.*377_*381del, XM_011530739.3:c.*378_*381del, XM_011530739.3:c.*379_*381del, XM_011530739.3:c.*380_*381del, XM_011530739.3:c.*381del, XM_011530739.3:c.*381dup, XM_011530739.3:c.*380_*381dup, XM_011530739.3:c.*379_*381dup, XM_011530739.3:c.*377_*381dup, XM_011530739.2:c.*377_*381del, XM_011530739.2:c.*378_*381del, XM_011530739.2:c.*379_*381del, XM_011530739.2:c.*380_*381del, XM_011530739.2:c.*381del, XM_011530739.2:c.*381dup, XM_011530739.2:c.*380_*381dup, XM_011530739.2:c.*379_*381dup, XM_011530739.2:c.*377_*381dup, XM_011530726.3:c.*377_*381del, XM_011530726.3:c.*378_*381del, XM_011530726.3:c.*379_*381del, XM_011530726.3:c.*380_*381del, XM_011530726.3:c.*381del, XM_011530726.3:c.*381dup, XM_011530726.3:c.*380_*381dup, XM_011530726.3:c.*379_*381dup, XM_011530726.3:c.*377_*381dup, XM_011530726.2:c.*377_*381del, XM_011530726.2:c.*378_*381del, XM_011530726.2:c.*379_*381del, XM_011530726.2:c.*380_*381del, XM_011530726.2:c.*381del, XM_011530726.2:c.*381dup, XM_011530726.2:c.*380_*381dup, XM_011530726.2:c.*379_*381dup, XM_011530726.2:c.*377_*381dup, XM_011530727.3:c.*377_*381del, XM_011530727.3:c.*378_*381del, XM_011530727.3:c.*379_*381del, XM_011530727.3:c.*380_*381del, XM_011530727.3:c.*381del, XM_011530727.3:c.*381dup, XM_011530727.3:c.*380_*381dup, XM_011530727.3:c.*379_*381dup, XM_011530727.3:c.*377_*381dup, XM_011530727.2:c.*377_*381del, XM_011530727.2:c.*378_*381del, XM_011530727.2:c.*379_*381del, XM_011530727.2:c.*380_*381del, XM_011530727.2:c.*381del, XM_011530727.2:c.*381dup, XM_011530727.2:c.*380_*381dup, XM_011530727.2:c.*379_*381dup, XM_011530727.2:c.*377_*381dup, XM_011530728.3:c.*377_*381del, XM_011530728.3:c.*378_*381del, XM_011530728.3:c.*379_*381del, XM_011530728.3:c.*380_*381del, XM_011530728.3:c.*381del, XM_011530728.3:c.*381dup, XM_011530728.3:c.*380_*381dup, XM_011530728.3:c.*379_*381dup, XM_011530728.3:c.*377_*381dup, XM_011530728.2:c.*377_*381del, XM_011530728.2:c.*378_*381del, XM_011530728.2:c.*379_*381del, XM_011530728.2:c.*380_*381del, XM_011530728.2:c.*381del, XM_011530728.2:c.*381dup, XM_011530728.2:c.*380_*381dup, XM_011530728.2:c.*379_*381dup, XM_011530728.2:c.*377_*381dup, XM_011530730.3:c.*377_*381del, XM_011530730.3:c.*378_*381del, XM_011530730.3:c.*379_*381del, XM_011530730.3:c.*380_*381del, XM_011530730.3:c.*381del, XM_011530730.3:c.*381dup, XM_011530730.3:c.*380_*381dup, XM_011530730.3:c.*379_*381dup, XM_011530730.3:c.*377_*381dup, XM_011530730.2:c.*377_*381del, XM_011530730.2:c.*378_*381del, XM_011530730.2:c.*379_*381del, XM_011530730.2:c.*380_*381del, XM_011530730.2:c.*381del, XM_011530730.2:c.*381dup, XM_011530730.2:c.*380_*381dup, XM_011530730.2:c.*379_*381dup, XM_011530730.2:c.*377_*381dup, XM_011530729.3:c.*377_*381del, XM_011530729.3:c.*378_*381del, XM_011530729.3:c.*379_*381del, XM_011530729.3:c.*380_*381del, XM_011530729.3:c.*381del, XM_011530729.3:c.*381dup, XM_011530729.3:c.*380_*381dup, XM_011530729.3:c.*379_*381dup, XM_011530729.3:c.*377_*381dup, XM_011530729.2:c.*377_*381del, XM_011530729.2:c.*378_*381del, XM_011530729.2:c.*379_*381del, XM_011530729.2:c.*380_*381del, XM_011530729.2:c.*381del, XM_011530729.2:c.*381dup, XM_011530729.2:c.*380_*381dup, XM_011530729.2:c.*379_*381dup, XM_011530729.2:c.*377_*381dup, XM_011530740.3:c.*377_*381del, XM_011530740.3:c.*378_*381del, XM_011530740.3:c.*379_*381del, XM_011530740.3:c.*380_*381del, XM_011530740.3:c.*381del, XM_011530740.3:c.*381dup, XM_011530740.3:c.*380_*381dup, XM_011530740.3:c.*379_*381dup, XM_011530740.3:c.*377_*381dup, XM_011530740.2:c.*377_*381del, XM_011530740.2:c.*378_*381del, XM_011530740.2:c.*379_*381del, XM_011530740.2:c.*380_*381del, XM_011530740.2:c.*381del, XM_011530740.2:c.*381dup, XM_011530740.2:c.*380_*381dup, XM_011530740.2:c.*379_*381dup, XM_011530740.2:c.*377_*381dup, XM_017029120.2:c.*377_*381del, XM_017029120.2:c.*378_*381del, XM_017029120.2:c.*379_*381del, XM_017029120.2:c.*380_*381del, XM_017029120.2:c.*381del, XM_017029120.2:c.*381dup, XM_017029120.2:c.*380_*381dup, XM_017029120.2:c.*379_*381dup, XM_017029120.2:c.*377_*381dup, XM_017029120.1:c.*377_*381del, XM_017029120.1:c.*378_*381del, XM_017029120.1:c.*379_*381del, XM_017029120.1:c.*380_*381del, XM_017029120.1:c.*381del, XM_017029120.1:c.*381dup, XM_017029120.1:c.*380_*381dup, XM_017029120.1:c.*379_*381dup, XM_017029120.1:c.*377_*381dup, XM_024452306.2:c.*377_*381del, XM_024452306.2:c.*378_*381del, XM_024452306.2:c.*379_*381del, XM_024452306.2:c.*380_*381del, XM_024452306.2:c.*381del, XM_024452306.2:c.*381dup, XM_024452306.2:c.*380_*381dup, XM_024452306.2:c.*379_*381dup, XM_024452306.2:c.*377_*381dup, XM_024452306.1:c.*377_*381del, XM_024452306.1:c.*378_*381del, XM_024452306.1:c.*379_*381del, XM_024452306.1:c.*380_*381del, XM_024452306.1:c.*381del, XM_024452306.1:c.*381dup, XM_024452306.1:c.*380_*381dup, XM_024452306.1:c.*379_*381dup, XM_024452306.1:c.*377_*381dup, XM_017029116.2:c.*377_*381del, XM_017029116.2:c.*378_*381del, XM_017029116.2:c.*379_*381del, XM_017029116.2:c.*380_*381del, XM_017029116.2:c.*381del, XM_017029116.2:c.*381dup, XM_017029116.2:c.*380_*381dup, XM_017029116.2:c.*379_*381dup, XM_017029116.2:c.*377_*381dup, XM_017029116.1:c.*377_*381del, XM_017029116.1:c.*378_*381del, XM_017029116.1:c.*379_*381del, XM_017029116.1:c.*380_*381del, XM_017029116.1:c.*381del, XM_017029116.1:c.*381dup, XM_017029116.1:c.*380_*381dup, XM_017029116.1:c.*379_*381dup, XM_017029116.1:c.*377_*381dup, XM_011530731.2:c.*377_*381del, XM_011530731.2:c.*378_*381del, XM_011530731.2:c.*379_*381del, XM_011530731.2:c.*380_*381del, XM_011530731.2:c.*381del, XM_011530731.2:c.*381dup, XM_011530731.2:c.*380_*381dup, XM_011530731.2:c.*379_*381dup, XM_011530731.2:c.*377_*381dup, XM_017029133.2:c.*377_*381del, XM_017029133.2:c.*378_*381del, XM_017029133.2:c.*379_*381del, XM_017029133.2:c.*380_*381del, XM_017029133.2:c.*381del, XM_017029133.2:c.*381dup, XM_017029133.2:c.*380_*381dup, XM_017029133.2:c.*379_*381dup, XM_017029133.2:c.*377_*381dup, XM_017029133.1:c.*377_*381del, XM_017029133.1:c.*378_*381del, XM_017029133.1:c.*379_*381del, XM_017029133.1:c.*380_*381del, XM_017029133.1:c.*381del, XM_017029133.1:c.*381dup, XM_017029133.1:c.*380_*381dup, XM_017029133.1:c.*379_*381dup, XM_017029133.1:c.*377_*381dup, XM_047441645.1:c.*377_*381del, XM_047441645.1:c.*378_*381del, XM_047441645.1:c.*379_*381del, XM_047441645.1:c.*380_*381del, XM_047441645.1:c.*381del, XM_047441645.1:c.*381dup, XM_047441645.1:c.*380_*381dup, XM_047441645.1:c.*379_*381dup, XM_047441645.1:c.*377_*381dup, XM_047441659.1:c.*377_*381del, XM_047441659.1:c.*378_*381del, XM_047441659.1:c.*379_*381del, XM_047441659.1:c.*380_*381del, XM_047441659.1:c.*381del, XM_047441659.1:c.*381dup, XM_047441659.1:c.*380_*381dup, XM_047441659.1:c.*379_*381dup, XM_047441659.1:c.*377_*381dup, XM_047441653.1:c.*377_*381del, XM_047441653.1:c.*378_*381del, XM_047441653.1:c.*379_*381del, XM_047441653.1:c.*380_*381del, XM_047441653.1:c.*381del, XM_047441653.1:c.*381dup, XM_047441653.1:c.*380_*381dup, XM_047441653.1:c.*379_*381dup, XM_047441653.1:c.*377_*381dup, XM_047441648.1:c.*377_*381del, XM_047441648.1:c.*378_*381del, XM_047441648.1:c.*379_*381del, XM_047441648.1:c.*380_*381del, XM_047441648.1:c.*381del, XM_047441648.1:c.*381dup, XM_047441648.1:c.*380_*381dup, XM_047441648.1:c.*379_*381dup, XM_047441648.1:c.*377_*381dup, XM_047441646.1:c.*377_*381del, XM_047441646.1:c.*378_*381del, XM_047441646.1:c.*379_*381del, XM_047441646.1:c.*380_*381del, XM_047441646.1:c.*381del, XM_047441646.1:c.*381dup, XM_047441646.1:c.*380_*381dup, XM_047441646.1:c.*379_*381dup, XM_047441646.1:c.*377_*381dup, XM_047441642.1:c.*377_*381del, XM_047441642.1:c.*378_*381del, XM_047441642.1:c.*379_*381del, XM_047441642.1:c.*380_*381del, XM_047441642.1:c.*381del, XM_047441642.1:c.*381dup, XM_047441642.1:c.*380_*381dup, XM_047441642.1:c.*379_*381dup, XM_047441642.1:c.*377_*381dup, XM_047441647.1:c.*377_*381del, XM_047441647.1:c.*378_*381del, XM_047441647.1:c.*379_*381del, XM_047441647.1:c.*380_*381del, XM_047441647.1:c.*381del, XM_047441647.1:c.*381dup, XM_047441647.1:c.*380_*381dup, XM_047441647.1:c.*379_*381dup, XM_047441647.1:c.*377_*381dup, XM_047441651.1:c.*377_*381del, XM_047441651.1:c.*378_*381del, XM_047441651.1:c.*379_*381del, XM_047441651.1:c.*380_*381del, XM_047441651.1:c.*381del, XM_047441651.1:c.*381dup, XM_047441651.1:c.*380_*381dup, XM_047441651.1:c.*379_*381dup, XM_047441651.1:c.*377_*381dup, XM_047441655.1:c.*377_*381del, XM_047441655.1:c.*378_*381del, XM_047441655.1:c.*379_*381del, XM_047441655.1:c.*380_*381del, XM_047441655.1:c.*381del, XM_047441655.1:c.*381dup, XM_047441655.1:c.*380_*381dup, XM_047441655.1:c.*379_*381dup, XM_047441655.1:c.*377_*381dup, XM_047441656.1:c.*377_*381del, XM_047441656.1:c.*378_*381del, XM_047441656.1:c.*379_*381del, XM_047441656.1:c.*380_*381del, XM_047441656.1:c.*381del, XM_047441656.1:c.*381dup, XM_047441656.1:c.*380_*381dup, XM_047441656.1:c.*379_*381dup, XM_047441656.1:c.*377_*381dup, XM_047441658.1:c.*377_*381del, XM_047441658.1:c.*378_*381del, XM_047441658.1:c.*379_*381del, XM_047441658.1:c.*380_*381del, XM_047441658.1:c.*381del, XM_047441658.1:c.*381dup, XM_047441658.1:c.*380_*381dup, XM_047441658.1:c.*379_*381dup, XM_047441658.1:c.*377_*381dup, XM_047441643.1:c.*377_*381del, XM_047441643.1:c.*378_*381del, XM_047441643.1:c.*379_*381del, XM_047441643.1:c.*380_*381del, XM_047441643.1:c.*381del, XM_047441643.1:c.*381dup, XM_047441643.1:c.*380_*381dup, XM_047441643.1:c.*379_*381dup, XM_047441643.1:c.*377_*381dup, XM_047441644.1:c.*377_*381del, XM_047441644.1:c.*378_*381del, XM_047441644.1:c.*379_*381del, XM_047441644.1:c.*380_*381del, XM_047441644.1:c.*381del, XM_047441644.1:c.*381dup, XM_047441644.1:c.*380_*381dup, XM_047441644.1:c.*379_*381dup, XM_047441644.1:c.*377_*381dup, XM_047441650.1:c.*377_*381del, XM_047441650.1:c.*378_*381del, XM_047441650.1:c.*379_*381del, XM_047441650.1:c.*380_*381del, XM_047441650.1:c.*381del, XM_047441650.1:c.*381dup, XM_047441650.1:c.*380_*381dup, XM_047441650.1:c.*379_*381dup, XM_047441650.1:c.*377_*381dup, XM_047441649.1:c.*377_*381del, XM_047441649.1:c.*378_*381del, XM_047441649.1:c.*379_*381del, XM_047441649.1:c.*380_*381del, XM_047441649.1:c.*381del, XM_047441649.1:c.*381dup, XM_047441649.1:c.*380_*381dup, XM_047441649.1:c.*379_*381dup, XM_047441649.1:c.*377_*381dup, XM_047441652.1:c.*377_*381del, XM_047441652.1:c.*378_*381del, XM_047441652.1:c.*379_*381del, XM_047441652.1:c.*380_*381del, XM_047441652.1:c.*381del, XM_047441652.1:c.*381dup, XM_047441652.1:c.*380_*381dup, XM_047441652.1:c.*379_*381dup, XM_047441652.1:c.*377_*381dup, XM_047441654.1:c.*377_*381del, XM_047441654.1:c.*378_*381del, XM_047441654.1:c.*379_*381del, XM_047441654.1:c.*380_*381del, XM_047441654.1:c.*381del, XM_047441654.1:c.*381dup, XM_047441654.1:c.*380_*381dup, XM_047441654.1:c.*379_*381dup, XM_047441654.1:c.*377_*381dup, XM_047441660.1:c.*377_*381del, XM_047441660.1:c.*378_*381del, XM_047441660.1:c.*379_*381del, XM_047441660.1:c.*380_*381del, XM_047441660.1:c.*381del, XM_047441660.1:c.*381dup, XM_047441660.1:c.*380_*381dup, XM_047441660.1:c.*379_*381dup, XM_047441660.1:c.*377_*381dup, XM_047441657.1:c.*377_*381del, XM_047441657.1:c.*378_*381del, XM_047441657.1:c.*379_*381del, XM_047441657.1:c.*380_*381del, XM_047441657.1:c.*381del, XM_047441657.1:c.*381dup, XM_047441657.1:c.*380_*381dup, XM_047441657.1:c.*379_*381dup, XM_047441657.1:c.*377_*381dup, XM_047441661.1:c.*377_*381del, XM_047441661.1:c.*378_*381del, XM_047441661.1:c.*379_*381del, XM_047441661.1:c.*380_*381del, XM_047441661.1:c.*381del, XM_047441661.1:c.*381dup, XM_047441661.1:c.*380_*381dup, XM_047441661.1:c.*379_*381dup, XM_047441661.1:c.*377_*381dup, XM_047441638.1:c.*377_*381del, XM_047441638.1:c.*378_*381del, XM_047441638.1:c.*379_*381del, XM_047441638.1:c.*380_*381del, XM_047441638.1:c.*381del, XM_047441638.1:c.*381dup, XM_047441638.1:c.*380_*381dup, XM_047441638.1:c.*379_*381dup, XM_047441638.1:c.*377_*381dup, XM_047441639.1:c.*377_*381del, XM_047441639.1:c.*378_*381del, XM_047441639.1:c.*379_*381del, XM_047441639.1:c.*380_*381del, XM_047441639.1:c.*381del, XM_047441639.1:c.*381dup, XM_047441639.1:c.*380_*381dup, XM_047441639.1:c.*379_*381dup, XM_047441639.1:c.*377_*381dup, XM_047441641.1:c.*377_*381del, XM_047441641.1:c.*378_*381del, XM_047441641.1:c.*379_*381del, XM_047441641.1:c.*380_*381del, XM_047441641.1:c.*381del, XM_047441641.1:c.*381dup, XM_047441641.1:c.*380_*381dup, XM_047441641.1:c.*379_*381dup, XM_047441641.1:c.*377_*381dup, XM_047441662.1:c.*377_*381del, XM_047441662.1:c.*378_*381del, XM_047441662.1:c.*379_*381del, XM_047441662.1:c.*380_*381del, XM_047441662.1:c.*381del, XM_047441662.1:c.*381dup, XM_047441662.1:c.*380_*381dup, XM_047441662.1:c.*379_*381dup, XM_047441662.1:c.*377_*381dup, XM_047441663.1:c.*377_*381del, XM_047441663.1:c.*378_*381del, XM_047441663.1:c.*379_*381del, XM_047441663.1:c.*380_*381del, XM_047441663.1:c.*381del, XM_047441663.1:c.*381dup, XM_047441663.1:c.*380_*381dup, XM_047441663.1:c.*379_*381dup, XM_047441663.1:c.*377_*381dup

                                    18.

                                    rs1491065590 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->A [Show Flanks]
                                      Chromosome:
                                      22:50462952 (GRCh38)
                                      22:50901382 (GRCh37)
                                      Canonical SPDI:
                                      NC_000022.11:50462952:A:AA
                                      Gene:
                                      SBF1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      AA=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490961046 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        22:50476356 (GRCh38)
                                        22:50914785 (GRCh37)
                                        Canonical SPDI:
                                        NC_000022.11:50476355:A:T
                                        Gene:
                                        SBF1 (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000019/5 (TOPMED)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490945605 has merged into rs1412631899 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAA>-,AA,AAAA,AAAAA [Show Flanks]
                                          Chromosome:
                                          22:50450531 (GRCh38)
                                          22:50888960 (GRCh37)
                                          Canonical SPDI:
                                          NC_000022.11:50450520:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:50450520:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:50450520:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:50450520:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
                                          Gene:
                                          SBF1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAAAAAA=0./0 (ALFA)
                                          HGVS:

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