U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 32581

2.

rs1491548343 has merged into rs397761069 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    15:22973322 (GRCh38)
    15:22899743 (GRCh37)
    Canonical SPDI:
    NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    CYFIP1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    -=0.075/3 (GENOME_DK)
    HGVS:
    NC_000015.10:g.22973322_22973335del, NC_000015.10:g.22973323_22973335del, NC_000015.10:g.22973324_22973335del, NC_000015.10:g.22973325_22973335del, NC_000015.10:g.22973326_22973335del, NC_000015.10:g.22973327_22973335del, NC_000015.10:g.22973328_22973335del, NC_000015.10:g.22973329_22973335del, NC_000015.10:g.22973330_22973335del, NC_000015.10:g.22973331_22973335del, NC_000015.10:g.22973332_22973335del, NC_000015.10:g.22973333_22973335del, NC_000015.10:g.22973334_22973335del, NC_000015.10:g.22973335del, NC_000015.10:g.22973335dup, NC_000015.10:g.22973334_22973335dup, NC_000015.10:g.22973333_22973335dup, NC_000015.10:g.22973329_22973335dup, NC_000015.9:g.22899743_22899756del, NC_000015.9:g.22899744_22899756del, NC_000015.9:g.22899745_22899756del, NC_000015.9:g.22899746_22899756del, NC_000015.9:g.22899747_22899756del, NC_000015.9:g.22899748_22899756del, NC_000015.9:g.22899749_22899756del, NC_000015.9:g.22899750_22899756del, NC_000015.9:g.22899751_22899756del, NC_000015.9:g.22899752_22899756del, NC_000015.9:g.22899753_22899756del, NC_000015.9:g.22899754_22899756del, NC_000015.9:g.22899755_22899756del, NC_000015.9:g.22899756del, NC_000015.9:g.22899756dup, NC_000015.9:g.22899755_22899756dup, NC_000015.9:g.22899754_22899756dup, NC_000015.9:g.22899750_22899756dup, NG_054889.1:g.12582_12595del, NG_054889.1:g.12583_12595del, NG_054889.1:g.12584_12595del, NG_054889.1:g.12585_12595del, NG_054889.1:g.12586_12595del, NG_054889.1:g.12587_12595del, NG_054889.1:g.12588_12595del, NG_054889.1:g.12589_12595del, NG_054889.1:g.12590_12595del, NG_054889.1:g.12591_12595del, NG_054889.1:g.12592_12595del, NG_054889.1:g.12593_12595del, NG_054889.1:g.12594_12595del, NG_054889.1:g.12595del, NG_054889.1:g.12595dup, NG_054889.1:g.12594_12595dup, NG_054889.1:g.12593_12595dup, NG_054889.1:g.12589_12595dup, NW_021160017.1:g.3867407_3867420del, NW_021160017.1:g.3867408_3867420del, NW_021160017.1:g.3867409_3867420del, NW_021160017.1:g.3867410_3867420del, NW_021160017.1:g.3867411_3867420del, NW_021160017.1:g.3867412_3867420del, NW_021160017.1:g.3867413_3867420del, NW_021160017.1:g.3867414_3867420del, NW_021160017.1:g.3867415_3867420del, NW_021160017.1:g.3867416_3867420del, NW_021160017.1:g.3867417_3867420del, NW_021160017.1:g.3867418_3867420del, NW_021160017.1:g.3867419_3867420del, NW_021160017.1:g.3867420del, NW_021160017.1:g.3867420dup, NW_021160017.1:g.3867419_3867420dup, NW_021160017.1:g.3867418_3867420dup, NW_021160017.1:g.3867414_3867420dup, NT_187603.1:g.70341_70342dup, NT_187603.1:g.70331_70342del, NT_187603.1:g.70332_70342del, NT_187603.1:g.70333_70342del, NT_187603.1:g.70334_70342del, NT_187603.1:g.70335_70342del, NT_187603.1:g.70336_70342del, NT_187603.1:g.70337_70342del, NT_187603.1:g.70338_70342del, NT_187603.1:g.70339_70342del, NT_187603.1:g.70340_70342del, NT_187603.1:g.70341_70342del, NT_187603.1:g.70342del, NT_187603.1:g.70342dup, NT_187603.1:g.70340_70342dup, NT_187603.1:g.70339_70342dup, NT_187603.1:g.70338_70342dup, NT_187603.1:g.70334_70342dup
    3.

    rs1491545835 has merged into rs552579436 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AG>-,AGAG [Show Flanks]
      Chromosome:
      15:22867249 (GRCh38)
      15:23005820 (GRCh37)
      Canonical SPDI:
      NC_000015.10:22867246:AGAG:AG,NC_000015.10:22867246:AGAG:AGAGAG
      Gene:
      CYFIP1 (Varview), NIPA2 (Varview)
      Functional Consequence:
      3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAGAG=0./0 (ALFA)
      -=0.001/1 (GoNL)
      CT=0.99994/16759 (TOMMO)
      HGVS:
      NC_000015.10:g.22867247AG[1], NC_000015.10:g.22867247AG[3], NC_000015.9:g.23005818CT[1], NC_000015.9:g.23005818CT[3], NG_054889.1:g.118657CT[1], NG_054889.1:g.118657CT[3], NM_014608.6:c.*2778CT[1], NM_014608.6:c.*2778CT[3], NM_014608.5:c.*2778CT[1], NM_014608.5:c.*2778CT[3], NM_001287810.4:c.*2778CT[1], NM_001287810.4:c.*2778CT[3], NM_001287810.3:c.*2778CT[1], NM_001287810.3:c.*2778CT[3], NM_001324122.3:c.*2778CT[1], NM_001324122.3:c.*2778CT[3], NM_001324122.2:c.*2778CT[1], NM_001324122.2:c.*2778CT[3], NM_001324123.3:c.*2778CT[1], NM_001324123.3:c.*2778CT[3], NM_001324123.2:c.*2778CT[1], NM_001324123.2:c.*2778CT[3], NM_001324124.3:c.*2778CT[1], NM_001324124.3:c.*2778CT[3], NM_001324124.2:c.*2778CT[1], NM_001324124.2:c.*2778CT[3], NM_001324126.3:c.*2778CT[1], NM_001324126.3:c.*2778CT[3], NM_001324126.2:c.*2778CT[1], NM_001324126.2:c.*2778CT[3], NM_001324125.3:c.*2778CT[1], NM_001324125.3:c.*2778CT[3], NM_001324125.2:c.*2778CT[1], NM_001324125.2:c.*2778CT[3], NM_001033028.3:c.*2778CT[1], NM_001033028.3:c.*2778CT[3], NM_001033028.2:c.*2778CT[1], NM_001033028.2:c.*2778CT[3], NM_001324120.2:c.*2778CT[1], NM_001324120.2:c.*2778CT[3], NM_001324119.2:c.*2778CT[1], NM_001324119.2:c.*2778CT[3], NG_021303.1:g.33607AG[1], NG_021303.1:g.33607AG[3], NM_030922.7:c.*400AG[1], NM_030922.7:c.*400AG[3], NM_030922.6:c.*400AG[1], NM_030922.6:c.*400AG[3], NM_001008860.3:c.*400AG[1], NM_001008860.3:c.*400AG[3], NM_001008860.2:c.*400AG[1], NM_001008860.2:c.*400AG[3], NM_001008892.3:c.*400AG[1], NM_001008892.3:c.*400AG[3], NM_001008892.2:c.*400AG[1], NM_001008892.2:c.*400AG[3], NM_001008894.3:c.*400AG[1], NM_001008894.3:c.*400AG[3], NM_001008894.2:c.*400AG[1], NM_001008894.2:c.*400AG[3], NM_001184889.2:c.*400AG[1], NM_001184889.2:c.*400AG[3], NM_001184889.1:c.*400AG[1], NM_001184889.1:c.*400AG[3], NM_001184888.2:c.*400AG[1], NM_001184888.2:c.*400AG[3], NM_001184888.1:c.*400AG[1], NM_001184888.1:c.*400AG[3], NW_021160017.1:g.3761322AG[1], NW_021160017.1:g.3761322AG[3], XM_005272548.4:c.*400AG[1], XM_005272548.4:c.*400AG[3], XM_005272548.3:c.*400AG[1], XM_005272548.3:c.*400AG[3], XM_005272548.2:c.*400AG[1], XM_005272548.2:c.*400AG[3], XM_005272548.1:c.*400AG[1], XM_005272548.1:c.*400AG[3], XM_005272553.6:c.*400AG[1], XM_005272553.6:c.*400AG[3], XM_005272553.5:c.*400AG[1], XM_005272553.5:c.*400AG[3], XM_005272553.4:c.*400AG[1], XM_005272553.4:c.*400AG[3], XM_005272553.3:c.*400AG[1], XM_005272553.3:c.*400AG[3], XM_005272553.2:c.*400AG[1], XM_005272553.2:c.*400AG[3], XM_005272553.1:c.*400AG[1], XM_005272553.1:c.*400AG[3], XM_011543878.4:c.*400AG[1], XM_011543878.4:c.*400AG[3], XM_011543878.3:c.*400AG[1], XM_011543878.3:c.*400AG[3], XM_011543878.2:c.*400AG[1], XM_011543878.2:c.*400AG[3], XM_011543878.1:c.*400AG[1], XM_011543878.1:c.*400AG[3], XM_005272546.4:c.*400AG[1], XM_005272546.4:c.*400AG[3], XM_005272546.3:c.*400AG[1], XM_005272546.3:c.*400AG[3], XM_005272546.2:c.*400AG[1], XM_005272546.2:c.*400AG[3], XM_005272546.1:c.*400AG[1], XM_005272546.1:c.*400AG[3], XM_005272547.5:c.*400AG[1], XM_005272547.5:c.*400AG[3], XM_005272547.4:c.*400AG[1], XM_005272547.4:c.*400AG[3], XM_005272547.3:c.*400AG[1], XM_005272547.3:c.*400AG[3], XM_005272547.2:c.*400AG[1], XM_005272547.2:c.*400AG[3], XM_005272547.1:c.*400AG[1], XM_005272547.1:c.*400AG[3], XM_005272552.5:c.*400AG[1], XM_005272552.5:c.*400AG[3], XM_005272552.4:c.*400AG[1], XM_005272552.4:c.*400AG[3], XM_005272552.3:c.*400AG[1], XM_005272552.3:c.*400AG[3], XM_005272552.2:c.*400AG[1], XM_005272552.2:c.*400AG[3], XM_005272552.1:c.*400AG[1], XM_005272552.1:c.*400AG[3], XM_011543880.4:c.*400AG[1], XM_011543880.4:c.*400AG[3], XM_011543880.3:c.*400AG[1], XM_011543880.3:c.*400AG[3], XM_011543880.2:c.*400AG[1], XM_011543880.2:c.*400AG[3], XM_011543880.1:c.*400AG[1], XM_011543880.1:c.*400AG[3], XM_005272550.4:c.*400AG[1], XM_005272550.4:c.*400AG[3], XM_005272550.3:c.*400AG[1], XM_005272550.3:c.*400AG[3], XM_005272550.2:c.*400AG[1], XM_005272550.2:c.*400AG[3], XM_005272550.1:c.*400AG[1], XM_005272550.1:c.*400AG[3], XM_011543879.4:c.*400AG[1], XM_011543879.4:c.*400AG[3], XM_011543879.3:c.*400AG[1], XM_011543879.3:c.*400AG[3], XM_011543879.2:c.*400AG[1], XM_011543879.2:c.*400AG[3], XM_011543879.1:c.*400AG[1], XM_011543879.1:c.*400AG[3], XM_017022651.3:c.*400AG[1], XM_017022651.3:c.*400AG[3], XM_017022651.2:c.*400AG[1], XM_017022651.2:c.*400AG[3], XM_017022651.1:c.*400AG[1], XM_017022651.1:c.*400AG[3], XM_017022653.3:c.*400AG[1], XM_017022653.3:c.*400AG[3], XM_017022653.2:c.*400AG[1], XM_017022653.2:c.*400AG[3], XM_017022653.1:c.*400AG[1], XM_017022653.1:c.*400AG[3], XM_011543877.3:c.*400AG[1], XM_011543877.3:c.*400AG[3], XM_011543877.2:c.*400AG[1], XM_011543877.2:c.*400AG[3], XM_011543877.1:c.*400AG[1], XM_011543877.1:c.*400AG[3], XM_017022649.3:c.*400AG[1], XM_017022649.3:c.*400AG[3], XM_017022649.2:c.*400AG[1], XM_017022649.2:c.*400AG[3], XM_017022649.1:c.*400AG[1], XM_017022649.1:c.*400AG[3], XM_017022650.3:c.*400AG[1], XM_017022650.3:c.*400AG[3], XM_017022650.2:c.*400AG[1], XM_017022650.2:c.*400AG[3], XM_017022650.1:c.*400AG[1], XM_017022650.1:c.*400AG[3], XM_006720364.3:c.*400AG[1], XM_006720364.3:c.*400AG[3], XM_006720364.2:c.*400AG[1], XM_006720364.2:c.*400AG[3], XM_006720364.1:c.*400AG[1], XM_006720364.1:c.*400AG[3], XM_017022652.3:c.*400AG[1], XM_017022652.3:c.*400AG[3], XM_017022652.2:c.*400AG[1], XM_017022652.2:c.*400AG[3], XM_017022652.1:c.*400AG[1], XM_017022652.1:c.*400AG[3], XM_017022654.3:c.*400AG[1], XM_017022654.3:c.*400AG[3], XM_017022654.2:c.*400AG[1], XM_017022654.2:c.*400AG[3], XM_017022654.1:c.*400AG[1], XM_017022654.1:c.*400AG[3], XM_017022645.2:c.*400AG[1], XM_017022645.2:c.*400AG[3], XM_017022645.1:c.*400AG[1], XM_017022645.1:c.*400AG[3], XM_017022646.2:c.*400AG[1], XM_017022646.2:c.*400AG[3], XM_017022646.1:c.*400AG[1], XM_017022646.1:c.*400AG[3], XM_017022647.2:c.*400AG[1], XM_017022647.2:c.*400AG[3], XM_017022647.1:c.*400AG[1], XM_017022647.1:c.*400AG[3], XM_017022660.2:c.*400AG[1], XM_017022660.2:c.*400AG[3], XM_017022660.1:c.*400AG[1], XM_017022660.1:c.*400AG[3], XM_017022657.2:c.*400AG[1], XM_017022657.2:c.*400AG[3], XM_017022657.1:c.*400AG[1], XM_017022657.1:c.*400AG[3], XM_017022659.2:c.*400AG[1], XM_017022659.2:c.*400AG[3], XM_017022659.1:c.*400AG[1], XM_017022659.1:c.*400AG[3], XM_017022656.2:c.*400AG[1], XM_017022656.2:c.*400AG[3], XM_017022656.1:c.*400AG[1], XM_017022656.1:c.*400AG[3], XM_017022655.2:c.*400AG[1], XM_017022655.2:c.*400AG[3], XM_017022655.1:c.*400AG[1], XM_017022655.1:c.*400AG[3], XM_017022662.2:c.*400AG[1], XM_017022662.2:c.*400AG[3], XM_017022662.1:c.*400AG[1], XM_017022662.1:c.*400AG[3], XM_017022661.2:c.*400AG[1], XM_017022661.2:c.*400AG[3], XM_017022661.1:c.*400AG[1], XM_017022661.1:c.*400AG[3], XM_017022658.2:c.*400AG[1], XM_017022658.2:c.*400AG[3], XM_017022658.1:c.*400AG[1], XM_017022658.1:c.*400AG[3], XM_017022663.2:c.*400AG[1], XM_017022663.2:c.*400AG[3], XM_017022663.1:c.*400AG[1], XM_017022663.1:c.*400AG[3], XM_017022648.2:c.*400AG[1], XM_017022648.2:c.*400AG[3], XM_017022648.1:c.*400AG[1], XM_017022648.1:c.*400AG[3], XM_006720367.2:c.*400AG[1], XM_006720367.2:c.*400AG[3], XM_006720367.1:c.*400AG[1], XM_006720367.1:c.*400AG[3], XM_047433156.1:c.*400AG[1], XM_047433156.1:c.*400AG[3], XM_047433150.1:c.*400AG[1], XM_047433150.1:c.*400AG[3], XM_047433155.1:c.*400AG[1], XM_047433155.1:c.*400AG[3], XM_047433158.1:c.*400AG[1], XM_047433158.1:c.*400AG[3], XM_047433151.1:c.*400AG[1], XM_047433151.1:c.*400AG[3], XM_047433162.1:c.*400AG[1], XM_047433162.1:c.*400AG[3], XM_047433154.1:c.*400AG[1], XM_047433154.1:c.*400AG[3], XM_047433157.1:c.*400AG[1], XM_047433157.1:c.*400AG[3], XM_047433153.1:c.*400AG[1], XM_047433153.1:c.*400AG[3], XM_047433163.1:c.*400AG[1], XM_047433163.1:c.*400AG[3], XM_047433152.1:c.*400AG[1], XM_047433152.1:c.*400AG[3], XM_047433161.1:c.*400AG[1], XM_047433161.1:c.*400AG[3], XM_047433159.1:c.*400AG[1], XM_047433159.1:c.*400AG[3], XM_047433160.1:c.*400AG[1], XM_047433160.1:c.*400AG[3]
      4.

      rs1491543312 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->TCAC,TCACAC,TCACACAC,TCACACACAC,TCACACACACAC,TCACACACACACAC,TCTCAC [Show Flanks]
        Chromosome:
        15:22964353 (GRCh38)
        15:22908714 (GRCh37)
        Canonical SPDI:
        NC_000015.10:22964353:C:CTCAC,NC_000015.10:22964353:C:CTCACAC,NC_000015.10:22964353:C:CTCACACAC,NC_000015.10:22964353:C:CTCACACACAC,NC_000015.10:22964353:C:CTCACACACACAC,NC_000015.10:22964353:C:CTCACACACACACAC,NC_000015.10:22964353:C:CTCTCAC
        Gene:
        CYFIP1 (Varview)
        Functional Consequence:
        intron_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        CTCACAC=0./0 (ALFA)
        HGVS:
        NC_000015.10:g.22964354_22964355insTCAC, NC_000015.10:g.22964354_22964355insTCACAC, NC_000015.10:g.22964354_22964355insTCACACAC, NC_000015.10:g.22964354_22964355insTCACACACAC, NC_000015.10:g.22964354_22964355insTCACACACACAC, NC_000015.10:g.22964354_22964355insTCACACACACACAC, NC_000015.10:g.22964354CT[2]CAC[1], NC_000015.9:g.22908714_22908715insTGAG, NC_000015.9:g.22908714GT[2]GAG[1], NC_000015.9:g.22908714GT[3]GAG[1], NC_000015.9:g.22908714GT[4]GAG[1], NC_000015.9:g.22908714GT[5]GAG[1], NC_000015.9:g.22908714GT[6]GAG[1], NC_000015.9:g.22908714_22908715insTGAGAG, NG_054889.1:g.21553_21554insTGAG, NG_054889.1:g.21553GT[2]GAG[1], NG_054889.1:g.21553GT[3]GAG[1], NG_054889.1:g.21553GT[4]GAG[1], NG_054889.1:g.21553GT[5]GAG[1], NG_054889.1:g.21553GT[6]GAG[1], NG_054889.1:g.21553_21554insTGAGAG, NW_021160017.1:g.3858438_3858439insTCAC, NW_021160017.1:g.3858434_3858438CA[2]CTCACAC[1], NW_021160017.1:g.3858431_3858438dup, NW_021160017.1:g.3858432_3858438CA[3]CTCACACACAC[1], NW_021160017.1:g.3858432_3858438CA[3]CTCACACACACAC[1], NW_021160017.1:g.3858432_3858438CA[3]CTCACACACACACAC[1], NW_021160017.1:g.3858438_3858439insTCTCAC
        5.

        rs1491536578 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          CA>- [Show Flanks]
          Chromosome:
          15:22883816 (GRCh38)
          15:22989251 (GRCh37)
          Canonical SPDI:
          NC_000015.10:22883815:CA:
          Gene:
          CYFIP1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          -=0.00152/18 (ALFA)
          HGVS:
          6.

          rs1491530824 has merged into rs35228444 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            15:22913533 (GRCh38)
            15:22959522 (GRCh37)
            Canonical SPDI:
            NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22913527:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            CYFIP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAA=0./0 (ALFA)
            HGVS:
            NC_000015.10:g.22913533_22913551del, NC_000015.10:g.22913536_22913551del, NC_000015.10:g.22913537_22913551del, NC_000015.10:g.22913538_22913551del, NC_000015.10:g.22913539_22913551del, NC_000015.10:g.22913540_22913551del, NC_000015.10:g.22913541_22913551del, NC_000015.10:g.22913542_22913551del, NC_000015.10:g.22913543_22913551del, NC_000015.10:g.22913544_22913551del, NC_000015.10:g.22913545_22913551del, NC_000015.10:g.22913546_22913551del, NC_000015.10:g.22913547_22913551del, NC_000015.10:g.22913548_22913551del, NC_000015.10:g.22913549_22913551del, NC_000015.10:g.22913550_22913551del, NC_000015.10:g.22913551del, NC_000015.10:g.22913551dup, NC_000015.10:g.22913550_22913551dup, NC_000015.10:g.22913549_22913551dup, NC_000015.10:g.22913548_22913551dup, NC_000015.10:g.22913547_22913551dup, NC_000015.10:g.22913546_22913551dup, NC_000015.10:g.22913545_22913551dup, NC_000015.10:g.22913544_22913551dup, NC_000015.10:g.22913543_22913551dup, NC_000015.10:g.22913542_22913551dup, NC_000015.10:g.22913541_22913551dup, NC_000015.10:g.22913539_22913551dup, NC_000015.10:g.22913538_22913551dup, NC_000015.10:g.22913537_22913551dup, NC_000015.10:g.22913536_22913551dup, NC_000015.10:g.22913535_22913551dup, NC_000015.10:g.22913534_22913551dup, NC_000015.10:g.22913533_22913551dup, NC_000015.10:g.22913532_22913551dup, NC_000015.10:g.22913531_22913551dup, NC_000015.10:g.22913530_22913551dup, NC_000015.10:g.22913528_22913551A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.22959522_22959540del, NC_000015.9:g.22959525_22959540del, NC_000015.9:g.22959526_22959540del, NC_000015.9:g.22959527_22959540del, NC_000015.9:g.22959528_22959540del, NC_000015.9:g.22959529_22959540del, NC_000015.9:g.22959530_22959540del, NC_000015.9:g.22959531_22959540del, NC_000015.9:g.22959532_22959540del, NC_000015.9:g.22959533_22959540del, NC_000015.9:g.22959534_22959540del, NC_000015.9:g.22959535_22959540del, NC_000015.9:g.22959536_22959540del, NC_000015.9:g.22959537_22959540del, NC_000015.9:g.22959538_22959540del, NC_000015.9:g.22959539_22959540del, NC_000015.9:g.22959540del, NC_000015.9:g.22959540dup, NC_000015.9:g.22959539_22959540dup, NC_000015.9:g.22959538_22959540dup, NC_000015.9:g.22959537_22959540dup, NC_000015.9:g.22959536_22959540dup, NC_000015.9:g.22959535_22959540dup, NC_000015.9:g.22959534_22959540dup, NC_000015.9:g.22959533_22959540dup, NC_000015.9:g.22959532_22959540dup, NC_000015.9:g.22959531_22959540dup, NC_000015.9:g.22959530_22959540dup, NC_000015.9:g.22959528_22959540dup, NC_000015.9:g.22959527_22959540dup, NC_000015.9:g.22959526_22959540dup, NC_000015.9:g.22959525_22959540dup, NC_000015.9:g.22959524_22959540dup, NC_000015.9:g.22959523_22959540dup, NC_000015.9:g.22959522_22959540dup, NC_000015.9:g.22959521_22959540dup, NC_000015.9:g.22959520_22959540dup, NC_000015.9:g.22959519_22959540dup, NC_000015.9:g.22959517_22959540T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_054889.1:g.72361_72379del, NG_054889.1:g.72364_72379del, NG_054889.1:g.72365_72379del, NG_054889.1:g.72366_72379del, NG_054889.1:g.72367_72379del, NG_054889.1:g.72368_72379del, NG_054889.1:g.72369_72379del, NG_054889.1:g.72370_72379del, NG_054889.1:g.72371_72379del, NG_054889.1:g.72372_72379del, NG_054889.1:g.72373_72379del, NG_054889.1:g.72374_72379del, NG_054889.1:g.72375_72379del, NG_054889.1:g.72376_72379del, NG_054889.1:g.72377_72379del, NG_054889.1:g.72378_72379del, NG_054889.1:g.72379del, NG_054889.1:g.72379dup, NG_054889.1:g.72378_72379dup, NG_054889.1:g.72377_72379dup, NG_054889.1:g.72376_72379dup, NG_054889.1:g.72375_72379dup, NG_054889.1:g.72374_72379dup, NG_054889.1:g.72373_72379dup, NG_054889.1:g.72372_72379dup, NG_054889.1:g.72371_72379dup, NG_054889.1:g.72370_72379dup, NG_054889.1:g.72369_72379dup, NG_054889.1:g.72367_72379dup, NG_054889.1:g.72366_72379dup, NG_054889.1:g.72365_72379dup, NG_054889.1:g.72364_72379dup, NG_054889.1:g.72363_72379dup, NG_054889.1:g.72362_72379dup, NG_054889.1:g.72361_72379dup, NG_054889.1:g.72360_72379dup, NG_054889.1:g.72359_72379dup, NG_054889.1:g.72358_72379dup, NG_054889.1:g.72356_72379T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NW_021160017.1:g.3807615_3807633del, NW_021160017.1:g.3807618_3807633del, NW_021160017.1:g.3807619_3807633del, NW_021160017.1:g.3807620_3807633del, NW_021160017.1:g.3807621_3807633del, NW_021160017.1:g.3807622_3807633del, NW_021160017.1:g.3807623_3807633del, NW_021160017.1:g.3807624_3807633del, NW_021160017.1:g.3807625_3807633del, NW_021160017.1:g.3807626_3807633del, NW_021160017.1:g.3807627_3807633del, NW_021160017.1:g.3807628_3807633del, NW_021160017.1:g.3807629_3807633del, NW_021160017.1:g.3807630_3807633del, NW_021160017.1:g.3807631_3807633del, NW_021160017.1:g.3807632_3807633del, NW_021160017.1:g.3807633del, NW_021160017.1:g.3807633dup, NW_021160017.1:g.3807632_3807633dup, NW_021160017.1:g.3807631_3807633dup, NW_021160017.1:g.3807630_3807633dup, NW_021160017.1:g.3807629_3807633dup, NW_021160017.1:g.3807628_3807633dup, NW_021160017.1:g.3807627_3807633dup, NW_021160017.1:g.3807626_3807633dup, NW_021160017.1:g.3807625_3807633dup, NW_021160017.1:g.3807624_3807633dup, NW_021160017.1:g.3807623_3807633dup, NW_021160017.1:g.3807621_3807633dup, NW_021160017.1:g.3807620_3807633dup, NW_021160017.1:g.3807619_3807633dup, NW_021160017.1:g.3807618_3807633dup, NW_021160017.1:g.3807617_3807633dup, NW_021160017.1:g.3807616_3807633dup, NW_021160017.1:g.3807615_3807633dup, NW_021160017.1:g.3807614_3807633dup, NW_021160017.1:g.3807613_3807633dup, NW_021160017.1:g.3807612_3807633dup, NW_021160017.1:g.3807610_3807633A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NT_187603.1:g.10573_10591del, NT_187603.1:g.10576_10591del, NT_187603.1:g.10577_10591del, NT_187603.1:g.10578_10591del, NT_187603.1:g.10579_10591del, NT_187603.1:g.10580_10591del, NT_187603.1:g.10581_10591del, NT_187603.1:g.10582_10591del, NT_187603.1:g.10583_10591del, NT_187603.1:g.10584_10591del, NT_187603.1:g.10585_10591del, NT_187603.1:g.10586_10591del, NT_187603.1:g.10587_10591del, NT_187603.1:g.10588_10591del, NT_187603.1:g.10589_10591del, NT_187603.1:g.10590_10591del, NT_187603.1:g.10591del, NT_187603.1:g.10591dup, NT_187603.1:g.10590_10591dup, NT_187603.1:g.10589_10591dup, NT_187603.1:g.10588_10591dup, NT_187603.1:g.10587_10591dup, NT_187603.1:g.10586_10591dup, NT_187603.1:g.10585_10591dup, NT_187603.1:g.10584_10591dup, NT_187603.1:g.10583_10591dup, NT_187603.1:g.10582_10591dup, NT_187603.1:g.10581_10591dup, NT_187603.1:g.10579_10591dup, NT_187603.1:g.10578_10591dup, NT_187603.1:g.10577_10591dup, NT_187603.1:g.10576_10591dup, NT_187603.1:g.10575_10591dup, NT_187603.1:g.10574_10591dup, NT_187603.1:g.10573_10591dup, NT_187603.1:g.10572_10591dup, NT_187603.1:g.10571_10591dup, NT_187603.1:g.10570_10591dup, NT_187603.1:g.10567_10591A[27]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
            7.

            rs1491524567 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TA>- [Show Flanks]
              Chromosome:
              15:22938923 (GRCh38)
              15:22934144 (GRCh37)
              Canonical SPDI:
              NC_000015.10:22938922:TA:
              Gene:
              CYFIP1 (Varview)
              Functional Consequence:
              intron_variant,genic_upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00008/1 (ALFA)
              HGVS:
              8.

              rs1491507004 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTT>-,T,TTTTT [Show Flanks]
                Chromosome:
                15:22894862 (GRCh38)
                15:22978205 (GRCh37)
                Canonical SPDI:
                NC_000015.10:22894860:TTTT:T,NC_000015.10:22894860:TTTT:TT,NC_000015.10:22894860:TTTT:TTTTTT
                Gene:
                CYFIP1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTT=0./0 (ALFA)
                HGVS:
                10.

                rs1491480959 has merged into rs397976366 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  15:22978365 (GRCh38)
                  15:22894698 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22978352:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  CYFIP1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAA=0./0 (ALFA)
                  -=0.2328/1166 (1000Genomes)
                  HGVS:
                  NC_000015.10:g.22978365_22978382del, NC_000015.10:g.22978366_22978382del, NC_000015.10:g.22978367_22978382del, NC_000015.10:g.22978368_22978382del, NC_000015.10:g.22978369_22978382del, NC_000015.10:g.22978370_22978382del, NC_000015.10:g.22978371_22978382del, NC_000015.10:g.22978372_22978382del, NC_000015.10:g.22978373_22978382del, NC_000015.10:g.22978374_22978382del, NC_000015.10:g.22978375_22978382del, NC_000015.10:g.22978376_22978382del, NC_000015.10:g.22978377_22978382del, NC_000015.10:g.22978378_22978382del, NC_000015.10:g.22978379_22978382del, NC_000015.10:g.22978380_22978382del, NC_000015.10:g.22978381_22978382del, NC_000015.10:g.22978382del, NC_000015.10:g.22978382dup, NC_000015.10:g.22978381_22978382dup, NC_000015.10:g.22978380_22978382dup, NC_000015.10:g.22978379_22978382dup, NC_000015.10:g.22978378_22978382dup, NC_000015.10:g.22978377_22978382dup, NC_000015.10:g.22978376_22978382dup, NC_000015.10:g.22978375_22978382dup, NC_000015.10:g.22978374_22978382dup, NC_000015.10:g.22978373_22978382dup, NC_000015.10:g.22978372_22978382dup, NC_000015.10:g.22978371_22978382dup, NC_000015.10:g.22978370_22978382dup, NC_000015.10:g.22978369_22978382dup, NC_000015.10:g.22978368_22978382dup, NC_000015.10:g.22978367_22978382dup, NC_000015.10:g.22978366_22978382dup, NC_000015.10:g.22978364_22978382dup, NC_000015.10:g.22978363_22978382dup, NC_000015.10:g.22978362_22978382dup, NC_000015.10:g.22978358_22978382dup, NC_000015.10:g.22978354_22978382dup, NC_000015.10:g.22978382_22978383insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.22894698_22894715del, NC_000015.9:g.22894699_22894715del, NC_000015.9:g.22894700_22894715del, NC_000015.9:g.22894701_22894715del, NC_000015.9:g.22894702_22894715del, NC_000015.9:g.22894703_22894715del, NC_000015.9:g.22894704_22894715del, NC_000015.9:g.22894705_22894715del, NC_000015.9:g.22894706_22894715del, NC_000015.9:g.22894707_22894715del, NC_000015.9:g.22894708_22894715del, NC_000015.9:g.22894709_22894715del, NC_000015.9:g.22894710_22894715del, NC_000015.9:g.22894711_22894715del, NC_000015.9:g.22894712_22894715del, NC_000015.9:g.22894713_22894715del, NC_000015.9:g.22894714_22894715del, NC_000015.9:g.22894715del, NC_000015.9:g.22894715dup, NC_000015.9:g.22894714_22894715dup, NC_000015.9:g.22894713_22894715dup, NC_000015.9:g.22894712_22894715dup, NC_000015.9:g.22894711_22894715dup, NC_000015.9:g.22894710_22894715dup, NC_000015.9:g.22894709_22894715dup, NC_000015.9:g.22894708_22894715dup, NC_000015.9:g.22894707_22894715dup, NC_000015.9:g.22894706_22894715dup, NC_000015.9:g.22894705_22894715dup, NC_000015.9:g.22894704_22894715dup, NC_000015.9:g.22894703_22894715dup, NC_000015.9:g.22894702_22894715dup, NC_000015.9:g.22894701_22894715dup, NC_000015.9:g.22894700_22894715dup, NC_000015.9:g.22894699_22894715dup, NC_000015.9:g.22894697_22894715dup, NC_000015.9:g.22894696_22894715dup, NC_000015.9:g.22894695_22894715dup, NC_000015.9:g.22894691_22894715dup, NC_000015.9:g.22894687_22894715dup, NC_000015.9:g.22894715_22894716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_054889.1:g.7537_7554del, NG_054889.1:g.7538_7554del, NG_054889.1:g.7539_7554del, NG_054889.1:g.7540_7554del, NG_054889.1:g.7541_7554del, NG_054889.1:g.7542_7554del, NG_054889.1:g.7543_7554del, NG_054889.1:g.7544_7554del, NG_054889.1:g.7545_7554del, NG_054889.1:g.7546_7554del, NG_054889.1:g.7547_7554del, NG_054889.1:g.7548_7554del, NG_054889.1:g.7549_7554del, NG_054889.1:g.7550_7554del, NG_054889.1:g.7551_7554del, NG_054889.1:g.7552_7554del, NG_054889.1:g.7553_7554del, NG_054889.1:g.7554del, NG_054889.1:g.7554dup, NG_054889.1:g.7553_7554dup, NG_054889.1:g.7552_7554dup, NG_054889.1:g.7551_7554dup, NG_054889.1:g.7550_7554dup, NG_054889.1:g.7549_7554dup, NG_054889.1:g.7548_7554dup, NG_054889.1:g.7547_7554dup, NG_054889.1:g.7546_7554dup, NG_054889.1:g.7545_7554dup, NG_054889.1:g.7544_7554dup, NG_054889.1:g.7543_7554dup, NG_054889.1:g.7542_7554dup, NG_054889.1:g.7541_7554dup, NG_054889.1:g.7540_7554dup, NG_054889.1:g.7539_7554dup, NG_054889.1:g.7538_7554dup, NG_054889.1:g.7536_7554dup, NG_054889.1:g.7535_7554dup, NG_054889.1:g.7534_7554dup, NG_054889.1:g.7530_7554dup, NG_054889.1:g.7526_7554dup, NG_054889.1:g.7554_7555insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_021160017.1:g.3872453_3872470del, NW_021160017.1:g.3872454_3872470del, NW_021160017.1:g.3872455_3872470del, NW_021160017.1:g.3872456_3872470del, NW_021160017.1:g.3872457_3872470del, NW_021160017.1:g.3872458_3872470del, NW_021160017.1:g.3872459_3872470del, NW_021160017.1:g.3872460_3872470del, NW_021160017.1:g.3872461_3872470del, NW_021160017.1:g.3872462_3872470del, NW_021160017.1:g.3872463_3872470del, NW_021160017.1:g.3872464_3872470del, NW_021160017.1:g.3872465_3872470del, NW_021160017.1:g.3872466_3872470del, NW_021160017.1:g.3872467_3872470del, NW_021160017.1:g.3872468_3872470del, NW_021160017.1:g.3872469_3872470del, NW_021160017.1:g.3872470del, NW_021160017.1:g.3872470dup, NW_021160017.1:g.3872469_3872470dup, NW_021160017.1:g.3872468_3872470dup, NW_021160017.1:g.3872467_3872470dup, NW_021160017.1:g.3872466_3872470dup, NW_021160017.1:g.3872465_3872470dup, NW_021160017.1:g.3872464_3872470dup, NW_021160017.1:g.3872463_3872470dup, NW_021160017.1:g.3872462_3872470dup, NW_021160017.1:g.3872461_3872470dup, NW_021160017.1:g.3872460_3872470dup, NW_021160017.1:g.3872459_3872470dup, NW_021160017.1:g.3872458_3872470dup, NW_021160017.1:g.3872457_3872470dup, NW_021160017.1:g.3872456_3872470dup, NW_021160017.1:g.3872455_3872470dup, NW_021160017.1:g.3872454_3872470dup, NW_021160017.1:g.3872452_3872470dup, NW_021160017.1:g.3872451_3872470dup, NW_021160017.1:g.3872450_3872470dup, NW_021160017.1:g.3872446_3872470dup, NW_021160017.1:g.3872442_3872470dup, NW_021160017.1:g.3872470_3872471insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75368_75378dup, NT_187603.1:g.75372_75378del, NT_187603.1:g.75373_75378del, NT_187603.1:g.75374_75378del, NT_187603.1:g.75375_75378del, NT_187603.1:g.75376_75378del, NT_187603.1:g.75377_75378del, NT_187603.1:g.75378del, NT_187603.1:g.75378dup, NT_187603.1:g.75377_75378dup, NT_187603.1:g.75376_75378dup, NT_187603.1:g.75375_75378dup, NT_187603.1:g.75374_75378dup, NT_187603.1:g.75373_75378dup, NT_187603.1:g.75372_75378dup, NT_187603.1:g.75371_75378dup, NT_187603.1:g.75370_75378dup, NT_187603.1:g.75369_75378dup, NT_187603.1:g.75367_75378dup, NT_187603.1:g.75366_75378dup, NT_187603.1:g.75365_75378dup, NT_187603.1:g.75364_75378dup, NT_187603.1:g.75363_75378dup, NT_187603.1:g.75362_75378dup, NT_187603.1:g.75361_75378dup, NT_187603.1:g.75360_75378dup, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187603.1:g.75378_75379insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  11.

                  rs1491470927 [Homo sapiens]
                    Variant type:
                    INS
                    Alleles:
                    ->TC [Show Flanks]
                    Chromosome:
                    15:22930751 (GRCh38)
                    15:22942317 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:22930751::TC
                    Gene:
                    CYFIP1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_upstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TC=0./0 (ALFA)
                    TC=0.000004/1 (TOPMED)
                    TC=0.000007/1 (GnomAD)
                    HGVS:
                    12.

                    rs1491466923 has merged into rs11327088 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                      Chromosome:
                      15:22872304 (GRCh38)
                      15:23000768 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA
                      Gene:
                      CYFIP1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAAAAAAA=0./0 (ALFA)
                      -=0.015/58 (ALSPAC)
                      T=0.375/15 (GENOME_DK)
                      HGVS:
                      NC_000015.10:g.22872304_22872310del, NC_000015.10:g.22872306_22872310del, NC_000015.10:g.22872307_22872310del, NC_000015.10:g.22872308_22872310del, NC_000015.10:g.22872309_22872310del, NC_000015.10:g.22872310del, NC_000015.10:g.22872310dup, NC_000015.10:g.22872309_22872310dup, NC_000015.10:g.22872308_22872310dup, NC_000015.10:g.22872307_22872310dup, NC_000015.10:g.22872306_22872310dup, NC_000015.10:g.22872305_22872310dup, NC_000015.10:g.22872304_22872310dup, NC_000015.10:g.22872303_22872310dup, NC_000015.10:g.22872294_22872310A[20]GAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.23000768_23000774del, NC_000015.9:g.23000770_23000774del, NC_000015.9:g.23000771_23000774del, NC_000015.9:g.23000772_23000774del, NC_000015.9:g.23000773_23000774del, NC_000015.9:g.23000774del, NC_000015.9:g.23000774dup, NC_000015.9:g.23000773_23000774dup, NC_000015.9:g.23000772_23000774dup, NC_000015.9:g.23000771_23000774dup, NC_000015.9:g.23000770_23000774dup, NC_000015.9:g.23000769_23000774dup, NC_000015.9:g.23000768_23000774dup, NC_000015.9:g.23000767_23000774dup, NC_000015.9:g.23000758_23000774T[20]CTTTTTTTTTTTTTTTTTTTT[1], NG_054889.1:g.113607_113613del, NG_054889.1:g.113609_113613del, NG_054889.1:g.113610_113613del, NG_054889.1:g.113611_113613del, NG_054889.1:g.113612_113613del, NG_054889.1:g.113613del, NG_054889.1:g.113613dup, NG_054889.1:g.113612_113613dup, NG_054889.1:g.113611_113613dup, NG_054889.1:g.113610_113613dup, NG_054889.1:g.113609_113613dup, NG_054889.1:g.113608_113613dup, NG_054889.1:g.113607_113613dup, NG_054889.1:g.113606_113613dup, NG_054889.1:g.113597_113613T[20]CTTTTTTTTTTTTTTTTTTTT[1], NW_021160017.1:g.3766386dup, NW_021160017.1:g.3766381_3766386del, NW_021160017.1:g.3766383_3766386del, NW_021160017.1:g.3766384_3766386del, NW_021160017.1:g.3766385_3766386del, NW_021160017.1:g.3766386del, NW_021160017.1:g.3766385_3766386dup, NW_021160017.1:g.3766384_3766386dup, NW_021160017.1:g.3766383_3766386dup, NW_021160017.1:g.3766382_3766386dup, NW_021160017.1:g.3766381_3766386dup, NW_021160017.1:g.3766380_3766386dup, NW_021160017.1:g.3766379_3766386dup, NW_021160017.1:g.3766378_3766386dup, NW_021160017.1:g.3766371_3766386A[20]GAAAAAAAAAAAAAAAAAAAA[1]
                      13.

                      rs1491457132 has merged into rs1346811000 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        GA>- [Show Flanks]
                        Chromosome:
                        15:22913552 (GRCh38)
                        15:22959516 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:22913550:AGA:A
                        Gene:
                        CYFIP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        -=0.000334/42 (GnomAD)
                        -=0.003656/77 (TOMMO)
                        HGVS:
                        14.

                        rs1491456156 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->G [Show Flanks]
                          Chromosome:
                          15:22894891 (GRCh38)
                          15:22978176 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:22894891:G:GG
                          Gene:
                          CYFIP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          GG=0./0 (ALFA)
                          HGVS:
                          15.

                          rs1491453283 has merged into rs1303031970 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            15:22900399 (GRCh38)
                            15:22972669 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:22900397:TCT:T
                            Gene:
                            CYFIP1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000084/1 (ALFA)
                            -=0./0 (Korea1K)
                            -=0.000015/2 (GnomAD)
                            TC=0.998761/16731 (TOMMO)
                            HGVS:
                            16.

                            rs1491451586 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              CA>- [Show Flanks]
                              Chromosome:
                              15:22867541 (GRCh38)
                              15:23005526 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:22867540:CA:
                              Gene:
                              CYFIP1 (Varview), NIPA2 (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant
                              Validated:
                              by frequency
                              MAF:
                              -=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000015.10:g.22867541_22867542del, NC_000015.9:g.23005526_23005527del, NG_054889.1:g.118365_118366del, NM_014608.6:c.*2486_*2487del, NM_014608.5:c.*2486_*2487del, NM_001287810.4:c.*2486_*2487del, NM_001287810.3:c.*2486_*2487del, NM_001324122.3:c.*2486_*2487del, NM_001324122.2:c.*2486_*2487del, NM_001324123.3:c.*2486_*2487del, NM_001324123.2:c.*2486_*2487del, NM_001324124.3:c.*2486_*2487del, NM_001324124.2:c.*2486_*2487del, NM_001324126.3:c.*2486_*2487del, NM_001324126.2:c.*2486_*2487del, NM_001324125.3:c.*2486_*2487del, NM_001324125.2:c.*2486_*2487del, NM_001033028.3:c.*2486_*2487del, NM_001033028.2:c.*2486_*2487del, NM_001324120.2:c.*2486_*2487del, NM_001324119.2:c.*2486_*2487del, NG_021303.1:g.33901_33902del, NM_030922.7:c.*694_*695del, NM_030922.6:c.*694_*695del, NM_001008860.3:c.*694_*695del, NM_001008860.2:c.*694_*695del, NM_001008892.3:c.*694_*695del, NM_001008892.2:c.*694_*695del, NM_001008894.3:c.*694_*695del, NM_001008894.2:c.*694_*695del, NM_001184889.2:c.*694_*695del, NM_001184889.1:c.*694_*695del, NM_001184888.2:c.*694_*695del, NM_001184888.1:c.*694_*695del, NW_021160017.1:g.3761616_3761617del, XM_005272548.4:c.*694_*695del, XM_005272548.3:c.*694_*695del, XM_005272548.2:c.*694_*695del, XM_005272548.1:c.*694_*695del, XM_005272553.6:c.*694_*695del, XM_005272553.5:c.*694_*695del, XM_005272553.4:c.*694_*695del, XM_005272553.3:c.*694_*695del, XM_005272553.2:c.*694_*695del, XM_005272553.1:c.*694_*695del, XM_011543878.4:c.*694_*695del, XM_011543878.3:c.*694_*695del, XM_011543878.2:c.*694_*695del, XM_011543878.1:c.*694_*695del, XM_005272546.4:c.*694_*695del, XM_005272546.3:c.*694_*695del, XM_005272546.2:c.*694_*695del, XM_005272546.1:c.*694_*695del, XM_005272547.5:c.*694_*695del, XM_005272547.4:c.*694_*695del, XM_005272547.3:c.*694_*695del, XM_005272547.2:c.*694_*695del, XM_005272547.1:c.*694_*695del, XM_005272552.5:c.*694_*695del, XM_005272552.4:c.*694_*695del, XM_005272552.3:c.*694_*695del, XM_005272552.2:c.*694_*695del, XM_005272552.1:c.*694_*695del, XM_011543880.4:c.*694_*695del, XM_011543880.3:c.*694_*695del, XM_011543880.2:c.*694_*695del, XM_011543880.1:c.*694_*695del, XM_005272550.4:c.*694_*695del, XM_005272550.3:c.*694_*695del, XM_005272550.2:c.*694_*695del, XM_005272550.1:c.*694_*695del, XM_011543879.4:c.*694_*695del, XM_011543879.3:c.*694_*695del, XM_011543879.2:c.*694_*695del, XM_011543879.1:c.*694_*695del, XM_017022651.3:c.*694_*695del, XM_017022651.2:c.*694_*695del, XM_017022651.1:c.*694_*695del, XM_017022653.3:c.*694_*695del, XM_017022653.2:c.*694_*695del, XM_017022653.1:c.*694_*695del, XM_011543877.3:c.*694_*695del, XM_011543877.2:c.*694_*695del, XM_011543877.1:c.*694_*695del, XM_017022649.3:c.*694_*695del, XM_017022649.2:c.*694_*695del, XM_017022649.1:c.*694_*695del, XM_017022650.3:c.*694_*695del, XM_017022650.2:c.*694_*695del, XM_017022650.1:c.*694_*695del, XM_006720364.3:c.*694_*695del, XM_006720364.2:c.*694_*695del, XM_006720364.1:c.*694_*695del, XM_017022652.3:c.*694_*695del, XM_017022652.2:c.*694_*695del, XM_017022652.1:c.*694_*695del, XM_017022654.3:c.*694_*695del, XM_017022654.2:c.*694_*695del, XM_017022654.1:c.*694_*695del, XM_017022645.2:c.*694_*695del, XM_017022645.1:c.*694_*695del, XM_017022648.2:c.*694_*695del, XM_017022648.1:c.*694_*695del, XM_006720367.2:c.*694_*695del, XM_006720367.1:c.*694_*695del, XM_017022646.2:c.*694_*695del, XM_017022646.1:c.*694_*695del, XM_017022647.2:c.*694_*695del, XM_017022647.1:c.*694_*695del, XM_017022660.2:c.*694_*695del, XM_017022660.1:c.*694_*695del, XM_017022657.2:c.*694_*695del, XM_017022657.1:c.*694_*695del, XM_017022659.2:c.*694_*695del, XM_017022659.1:c.*694_*695del, XM_017022655.2:c.*694_*695del, XM_017022655.1:c.*694_*695del, XM_017022662.2:c.*694_*695del, XM_017022662.1:c.*694_*695del, XM_017022661.2:c.*694_*695del, XM_017022661.1:c.*694_*695del, XM_017022658.2:c.*694_*695del, XM_017022658.1:c.*694_*695del, XM_017022663.2:c.*694_*695del, XM_017022663.1:c.*694_*695del, XM_047433159.1:c.*694_*695del, XM_017022656.2:c.*694_*695del, XM_017022656.1:c.*694_*695del, XM_047433152.1:c.*694_*695del, XM_047433162.1:c.*694_*695del, XM_047433154.1:c.*694_*695del, XM_047433153.1:c.*694_*695del, XM_047433161.1:c.*694_*695del, XM_047433158.1:c.*694_*695del, XM_047433156.1:c.*694_*695del, XM_047433151.1:c.*694_*695del, XM_047433160.1:c.*694_*695del, XM_047433163.1:c.*694_*695del, XM_047433155.1:c.*694_*695del, XM_047433157.1:c.*694_*695del, XM_047433150.1:c.*694_*695del
                              17.

                              rs1491442568 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CA>- [Show Flanks]
                                Chromosome:
                                15:22973311 (GRCh38)
                                15:22899756 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:22973310:CA:
                                Gene:
                                CYFIP1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                HGVS:
                                18.

                                rs1491429659 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  ->AT,ATAT,ATATAT [Show Flanks]
                                  Chromosome:
                                  15:22894861 (GRCh38)
                                  15:22978206 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:22894861:T:TAT,NC_000015.10:22894861:T:TATAT,NC_000015.10:22894861:T:TATATAT
                                  Gene:
                                  CYFIP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TATAT=0./0 (ALFA)
                                  HGVS:
                                  19.

                                  rs1491425115 has merged into rs35697922 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
                                    Chromosome:
                                    15:22900412 (GRCh38)
                                    15:22972664 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:22900399:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
                                    Gene:
                                    CYFIP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTTTTTTT=0./0 (ALFA)
                                    -=0.15/6 (GENOME_DK)
                                    -=0.2662/1333 (1000Genomes)
                                    HGVS:
                                    NC_000015.10:g.22900412_22900416del, NC_000015.10:g.22900413_22900416del, NC_000015.10:g.22900414_22900416del, NC_000015.10:g.22900415_22900416del, NC_000015.10:g.22900416del, NC_000015.10:g.22900416dup, NC_000015.10:g.22900415_22900416dup, NC_000015.10:g.22900414_22900416dup, NC_000015.9:g.22972664_22972668del, NC_000015.9:g.22972665_22972668del, NC_000015.9:g.22972666_22972668del, NC_000015.9:g.22972667_22972668del, NC_000015.9:g.22972668del, NC_000015.9:g.22972668dup, NC_000015.9:g.22972667_22972668dup, NC_000015.9:g.22972666_22972668dup, NG_054889.1:g.85503_85507del, NG_054889.1:g.85504_85507del, NG_054889.1:g.85505_85507del, NG_054889.1:g.85506_85507del, NG_054889.1:g.85507del, NG_054889.1:g.85507dup, NG_054889.1:g.85506_85507dup, NG_054889.1:g.85505_85507dup, NW_021160017.1:g.3794498dup, NW_021160017.1:g.3794495_3794498del, NW_021160017.1:g.3794496_3794498del, NW_021160017.1:g.3794497_3794498del, NW_021160017.1:g.3794498del, NW_021160017.1:g.3794497_3794498dup, NW_021160017.1:g.3794496_3794498dup, NW_021160017.1:g.3794495_3794498dup
                                    20.

                                    rs1491424901 has merged into rs1379616608 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      CA>- [Show Flanks]
                                      Chromosome:
                                      15:22871276 (GRCh38)
                                      15:23001796 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:22871270:ACACACA:ACACA
                                      Gene:
                                      CYFIP1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ACACA=0.000071/1 (ALFA)
                                      -=0.00005/7 (GnomAD)
                                      -=0.000125/33 (TOPMED)
                                      TG=0.99994/16759 (TOMMO)
                                      HGVS:

                                      Display Settings:

                                      Format
                                      Items per page
                                      Sort by

                                      Send to:

                                      Choose Destination

                                      Supplemental Content

                                      Find related data

                                      Recent activity

                                      Your browsing activity is empty.

                                      Activity recording is turned off.

                                      Turn recording back on

                                      See more...