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Items: 1 to 20 of 2147

1.

rs1491322729 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TT [Show Flanks]
    Chromosome:
    9:14083097 (GRCh38)
    9:14083097 (GRCh37)
    Canonical SPDI:
    NC_000009.12:14083097::TT
    Gene:
    NFIB (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TT=0./0 (ALFA)
    TT=0.000026/7 (TOPMED)
    TT=0.012438/5 (GnomAD)
    HGVS:
    NC_000009.12:g.14083097_14083098insTT, NC_000009.11:g.14083096_14083097insTT, NM_005596.3:c.*5211_*5212insAA, NM_001190737.2:c.*5211_*5212insAA, NM_001190737.1:c.*5211_*5212insAA, NM_001190738.2:c.*5211_*5212insAA, NM_001190738.1:c.*5211_*5212insAA, NM_001282787.2:c.*5099_*5100insAA, NM_001282787.1:c.*5099_*5100insAA, NM_001369461.1:c.*5099_*5100insAA, NM_001369460.1:c.*5099_*5100insAA, NM_001369464.1:c.*5099_*5100insAA, NM_001369471.1:c.*5211_*5212insAA, NM_001369463.1:c.*5143_*5144insAA, NM_001369477.1:c.*5211_*5212insAA, NM_001369466.1:c.*5099_*5100insAA, NM_001369475.1:c.*5099_*5100insAA, NM_001369470.1:c.*5211_*5212insAA, NM_001369458.1:c.*5099_*5100insAA, NM_001369472.1:c.*5211_*5212insAA, NM_001369473.1:c.*5211_*5212insAA, NM_001369459.1:c.*5099_*5100insAA, NM_001369465.1:c.*5211_*5212insAA, NM_001369478.1:c.*5211_*5212insAA, NM_001369462.1:c.*5099_*5100insAA, NM_001369467.1:c.*5099_*5100insAA, NM_001369469.1:c.*5099_*5100insAA, NM_001369468.1:c.*5211_*5212insAA, NM_001369474.1:c.*5211_*5212insAA, NM_001369476.1:c.*5211_*5212insAA, NR_161383.1:n.6356_6357insAA, NM_001369479.1:c.*5099_*5100insAA, NR_161385.1:n.6058_6059insAA, NR_161382.1:n.6008_6009insAA, NR_161384.1:n.6006_6007insAA, NM_001369480.1:c.*5211_*5212insAA

    2.

    rs1491058223 has merged into rs33918801 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      9:14083491 (GRCh38)
      9:14083490 (GRCh37)
      Canonical SPDI:
      NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:14083479:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      NFIB (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAAAAAAA=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000009.12:g.14083491_14083500del, NC_000009.12:g.14083493_14083500del, NC_000009.12:g.14083494_14083500del, NC_000009.12:g.14083495_14083500del, NC_000009.12:g.14083496_14083500del, NC_000009.12:g.14083497_14083500del, NC_000009.12:g.14083498_14083500del, NC_000009.12:g.14083499_14083500del, NC_000009.12:g.14083500del, NC_000009.12:g.14083500dup, NC_000009.12:g.14083499_14083500dup, NC_000009.12:g.14083498_14083500dup, NC_000009.12:g.14083497_14083500dup, NC_000009.12:g.14083496_14083500dup, NC_000009.12:g.14083494_14083500dup, NC_000009.12:g.14083493_14083500dup, NC_000009.12:g.14083484_14083500dup, NC_000009.12:g.14083483_14083500dup, NC_000009.11:g.14083490_14083499del, NC_000009.11:g.14083492_14083499del, NC_000009.11:g.14083493_14083499del, NC_000009.11:g.14083494_14083499del, NC_000009.11:g.14083495_14083499del, NC_000009.11:g.14083496_14083499del, NC_000009.11:g.14083497_14083499del, NC_000009.11:g.14083498_14083499del, NC_000009.11:g.14083499del, NC_000009.11:g.14083499dup, NC_000009.11:g.14083498_14083499dup, NC_000009.11:g.14083497_14083499dup, NC_000009.11:g.14083496_14083499dup, NC_000009.11:g.14083495_14083499dup, NC_000009.11:g.14083493_14083499dup, NC_000009.11:g.14083492_14083499dup, NC_000009.11:g.14083483_14083499dup, NC_000009.11:g.14083482_14083499dup, NM_005596.3:c.*4820_*4829del, NM_005596.3:c.*4822_*4829del, NM_005596.3:c.*4823_*4829del, NM_005596.3:c.*4824_*4829del, NM_005596.3:c.*4825_*4829del, NM_005596.3:c.*4826_*4829del, NM_005596.3:c.*4827_*4829del, NM_005596.3:c.*4828_*4829del, NM_005596.3:c.*4829del, NM_005596.3:c.*4829dup, NM_005596.3:c.*4828_*4829dup, NM_005596.3:c.*4827_*4829dup, NM_005596.3:c.*4826_*4829dup, NM_005596.3:c.*4825_*4829dup, NM_005596.3:c.*4823_*4829dup, NM_005596.3:c.*4822_*4829dup, NM_005596.3:c.*4813_*4829dup, NM_005596.3:c.*4812_*4829dup, NM_001190737.2:c.*4820_*4829del, NM_001190737.2:c.*4822_*4829del, NM_001190737.2:c.*4823_*4829del, NM_001190737.2:c.*4824_*4829del, NM_001190737.2:c.*4825_*4829del, NM_001190737.2:c.*4826_*4829del, NM_001190737.2:c.*4827_*4829del, NM_001190737.2:c.*4828_*4829del, NM_001190737.2:c.*4829del, NM_001190737.2:c.*4829dup, NM_001190737.2:c.*4828_*4829dup, NM_001190737.2:c.*4827_*4829dup, NM_001190737.2:c.*4826_*4829dup, NM_001190737.2:c.*4825_*4829dup, NM_001190737.2:c.*4823_*4829dup, NM_001190737.2:c.*4822_*4829dup, NM_001190737.2:c.*4813_*4829dup, NM_001190737.2:c.*4812_*4829dup, NM_001190737.1:c.*4820_*4829del, NM_001190737.1:c.*4822_*4829del, NM_001190737.1:c.*4823_*4829del, NM_001190737.1:c.*4824_*4829del, NM_001190737.1:c.*4825_*4829del, NM_001190737.1:c.*4826_*4829del, NM_001190737.1:c.*4827_*4829del, NM_001190737.1:c.*4828_*4829del, NM_001190737.1:c.*4829del, NM_001190737.1:c.*4829dup, NM_001190737.1:c.*4828_*4829dup, NM_001190737.1:c.*4827_*4829dup, NM_001190737.1:c.*4826_*4829dup, NM_001190737.1:c.*4825_*4829dup, NM_001190737.1:c.*4823_*4829dup, NM_001190737.1:c.*4822_*4829dup, NM_001190737.1:c.*4813_*4829dup, NM_001190737.1:c.*4812_*4829dup, NM_001190738.2:c.*4820_*4829del, NM_001190738.2:c.*4822_*4829del, NM_001190738.2:c.*4823_*4829del, NM_001190738.2:c.*4824_*4829del, NM_001190738.2:c.*4825_*4829del, NM_001190738.2:c.*4826_*4829del, NM_001190738.2:c.*4827_*4829del, NM_001190738.2:c.*4828_*4829del, NM_001190738.2:c.*4829del, NM_001190738.2:c.*4829dup, NM_001190738.2:c.*4828_*4829dup, NM_001190738.2:c.*4827_*4829dup, NM_001190738.2:c.*4826_*4829dup, NM_001190738.2:c.*4825_*4829dup, NM_001190738.2:c.*4823_*4829dup, NM_001190738.2:c.*4822_*4829dup, NM_001190738.2:c.*4813_*4829dup, NM_001190738.2:c.*4812_*4829dup, NM_001190738.1:c.*4820_*4829del, NM_001190738.1:c.*4822_*4829del, NM_001190738.1:c.*4823_*4829del, NM_001190738.1:c.*4824_*4829del, NM_001190738.1:c.*4825_*4829del, NM_001190738.1:c.*4826_*4829del, NM_001190738.1:c.*4827_*4829del, NM_001190738.1:c.*4828_*4829del, NM_001190738.1:c.*4829del, NM_001190738.1:c.*4829dup, NM_001190738.1:c.*4828_*4829dup, NM_001190738.1:c.*4827_*4829dup, NM_001190738.1:c.*4826_*4829dup, NM_001190738.1:c.*4825_*4829dup, NM_001190738.1:c.*4823_*4829dup, NM_001190738.1:c.*4822_*4829dup, NM_001190738.1:c.*4813_*4829dup, NM_001190738.1:c.*4812_*4829dup, NM_001282787.2:c.*4708_*4717del, NM_001282787.2:c.*4710_*4717del, NM_001282787.2:c.*4711_*4717del, NM_001282787.2:c.*4712_*4717del, NM_001282787.2:c.*4713_*4717del, NM_001282787.2:c.*4714_*4717del, NM_001282787.2:c.*4715_*4717del, NM_001282787.2:c.*4716_*4717del, NM_001282787.2:c.*4717del, NM_001282787.2:c.*4717dup, NM_001282787.2:c.*4716_*4717dup, NM_001282787.2:c.*4715_*4717dup, NM_001282787.2:c.*4714_*4717dup, NM_001282787.2:c.*4713_*4717dup, NM_001282787.2:c.*4711_*4717dup, NM_001282787.2:c.*4710_*4717dup, NM_001282787.2:c.*4701_*4717dup, NM_001282787.2:c.*4700_*4717dup, NM_001282787.1:c.*4708_*4717del, NM_001282787.1:c.*4710_*4717del, NM_001282787.1:c.*4711_*4717del, NM_001282787.1:c.*4712_*4717del, NM_001282787.1:c.*4713_*4717del, NM_001282787.1:c.*4714_*4717del, NM_001282787.1:c.*4715_*4717del, NM_001282787.1:c.*4716_*4717del, NM_001282787.1:c.*4717del, NM_001282787.1:c.*4717dup, NM_001282787.1:c.*4716_*4717dup, NM_001282787.1:c.*4715_*4717dup, NM_001282787.1:c.*4714_*4717dup, NM_001282787.1:c.*4713_*4717dup, NM_001282787.1:c.*4711_*4717dup, NM_001282787.1:c.*4710_*4717dup, NM_001282787.1:c.*4701_*4717dup, NM_001282787.1:c.*4700_*4717dup, NM_001369461.1:c.*4708_*4717del, NM_001369461.1:c.*4710_*4717del, NM_001369461.1:c.*4711_*4717del, NM_001369461.1:c.*4712_*4717del, NM_001369461.1:c.*4713_*4717del, NM_001369461.1:c.*4714_*4717del, NM_001369461.1:c.*4715_*4717del, NM_001369461.1:c.*4716_*4717del, NM_001369461.1:c.*4717del, NM_001369461.1:c.*4717dup, NM_001369461.1:c.*4716_*4717dup, NM_001369461.1:c.*4715_*4717dup, NM_001369461.1:c.*4714_*4717dup, NM_001369461.1:c.*4713_*4717dup, NM_001369461.1:c.*4711_*4717dup, NM_001369461.1:c.*4710_*4717dup, NM_001369461.1:c.*4701_*4717dup, NM_001369461.1:c.*4700_*4717dup, NM_001369460.1:c.*4708_*4717del, NM_001369460.1:c.*4710_*4717del, NM_001369460.1:c.*4711_*4717del, NM_001369460.1:c.*4712_*4717del, NM_001369460.1:c.*4713_*4717del, NM_001369460.1:c.*4714_*4717del, NM_001369460.1:c.*4715_*4717del, NM_001369460.1:c.*4716_*4717del, NM_001369460.1:c.*4717del, NM_001369460.1:c.*4717dup, NM_001369460.1:c.*4716_*4717dup, NM_001369460.1:c.*4715_*4717dup, NM_001369460.1:c.*4714_*4717dup, NM_001369460.1:c.*4713_*4717dup, NM_001369460.1:c.*4711_*4717dup, NM_001369460.1:c.*4710_*4717dup, NM_001369460.1:c.*4701_*4717dup, NM_001369460.1:c.*4700_*4717dup, NM_001369464.1:c.*4708_*4717del, NM_001369464.1:c.*4710_*4717del, NM_001369464.1:c.*4711_*4717del, NM_001369464.1:c.*4712_*4717del, NM_001369464.1:c.*4713_*4717del, NM_001369464.1:c.*4714_*4717del, NM_001369464.1:c.*4715_*4717del, NM_001369464.1:c.*4716_*4717del, NM_001369464.1:c.*4717del, NM_001369464.1:c.*4717dup, NM_001369464.1:c.*4716_*4717dup, NM_001369464.1:c.*4715_*4717dup, NM_001369464.1:c.*4714_*4717dup, NM_001369464.1:c.*4713_*4717dup, NM_001369464.1:c.*4711_*4717dup, NM_001369464.1:c.*4710_*4717dup, NM_001369464.1:c.*4701_*4717dup, NM_001369464.1:c.*4700_*4717dup, NM_001369471.1:c.*4820_*4829del, NM_001369471.1:c.*4822_*4829del, NM_001369471.1:c.*4823_*4829del, NM_001369471.1:c.*4824_*4829del, NM_001369471.1:c.*4825_*4829del, NM_001369471.1:c.*4826_*4829del, NM_001369471.1:c.*4827_*4829del, NM_001369471.1:c.*4828_*4829del, NM_001369471.1:c.*4829del, NM_001369471.1:c.*4829dup, NM_001369471.1:c.*4828_*4829dup, NM_001369471.1:c.*4827_*4829dup, NM_001369471.1:c.*4826_*4829dup, NM_001369471.1:c.*4825_*4829dup, NM_001369471.1:c.*4823_*4829dup, NM_001369471.1:c.*4822_*4829dup, NM_001369471.1:c.*4813_*4829dup, NM_001369471.1:c.*4812_*4829dup, NM_001369463.1:c.*4752_*4761del, NM_001369463.1:c.*4754_*4761del, NM_001369463.1:c.*4755_*4761del, NM_001369463.1:c.*4756_*4761del, NM_001369463.1:c.*4757_*4761del, NM_001369463.1:c.*4758_*4761del, NM_001369463.1:c.*4759_*4761del, NM_001369463.1:c.*4760_*4761del, NM_001369463.1:c.*4761del, NM_001369463.1:c.*4761dup, NM_001369463.1:c.*4760_*4761dup, NM_001369463.1:c.*4759_*4761dup, NM_001369463.1:c.*4758_*4761dup, NM_001369463.1:c.*4757_*4761dup, NM_001369463.1:c.*4755_*4761dup, NM_001369463.1:c.*4754_*4761dup, NM_001369463.1:c.*4745_*4761dup, NM_001369463.1:c.*4744_*4761dup, NM_001369477.1:c.*4820_*4829del, NM_001369477.1:c.*4822_*4829del, NM_001369477.1:c.*4823_*4829del, NM_001369477.1:c.*4824_*4829del, NM_001369477.1:c.*4825_*4829del, NM_001369477.1:c.*4826_*4829del, NM_001369477.1:c.*4827_*4829del, NM_001369477.1:c.*4828_*4829del, NM_001369477.1:c.*4829del, NM_001369477.1:c.*4829dup, NM_001369477.1:c.*4828_*4829dup, NM_001369477.1:c.*4827_*4829dup, NM_001369477.1:c.*4826_*4829dup, NM_001369477.1:c.*4825_*4829dup, NM_001369477.1:c.*4823_*4829dup, NM_001369477.1:c.*4822_*4829dup, NM_001369477.1:c.*4813_*4829dup, NM_001369477.1:c.*4812_*4829dup, NM_001369466.1:c.*4708_*4717del, NM_001369466.1:c.*4710_*4717del, NM_001369466.1:c.*4711_*4717del, NM_001369466.1:c.*4712_*4717del, NM_001369466.1:c.*4713_*4717del, NM_001369466.1:c.*4714_*4717del, NM_001369466.1:c.*4715_*4717del, NM_001369466.1:c.*4716_*4717del, NM_001369466.1:c.*4717del, NM_001369466.1:c.*4717dup, NM_001369466.1:c.*4716_*4717dup, NM_001369466.1:c.*4715_*4717dup, NM_001369466.1:c.*4714_*4717dup, NM_001369466.1:c.*4713_*4717dup, NM_001369466.1:c.*4711_*4717dup, NM_001369466.1:c.*4710_*4717dup, NM_001369466.1:c.*4701_*4717dup, NM_001369466.1:c.*4700_*4717dup, NM_001369475.1:c.*4708_*4717del, NM_001369475.1:c.*4710_*4717del, NM_001369475.1:c.*4711_*4717del, NM_001369475.1:c.*4712_*4717del, NM_001369475.1:c.*4713_*4717del, NM_001369475.1:c.*4714_*4717del, NM_001369475.1:c.*4715_*4717del, NM_001369475.1:c.*4716_*4717del, NM_001369475.1:c.*4717del, NM_001369475.1:c.*4717dup, NM_001369475.1:c.*4716_*4717dup, NM_001369475.1:c.*4715_*4717dup, NM_001369475.1:c.*4714_*4717dup, NM_001369475.1:c.*4713_*4717dup, NM_001369475.1:c.*4711_*4717dup, NM_001369475.1:c.*4710_*4717dup, NM_001369475.1:c.*4701_*4717dup, NM_001369475.1:c.*4700_*4717dup, NM_001369470.1:c.*4820_*4829del, NM_001369470.1:c.*4822_*4829del, NM_001369470.1:c.*4823_*4829del, NM_001369470.1:c.*4824_*4829del, NM_001369470.1:c.*4825_*4829del, NM_001369470.1:c.*4826_*4829del, NM_001369470.1:c.*4827_*4829del, NM_001369470.1:c.*4828_*4829del, NM_001369470.1:c.*4829del, NM_001369470.1:c.*4829dup, NM_001369470.1:c.*4828_*4829dup, NM_001369470.1:c.*4827_*4829dup, NM_001369470.1:c.*4826_*4829dup, NM_001369470.1:c.*4825_*4829dup, NM_001369470.1:c.*4823_*4829dup, NM_001369470.1:c.*4822_*4829dup, NM_001369470.1:c.*4813_*4829dup, NM_001369470.1:c.*4812_*4829dup, NM_001369458.1:c.*4708_*4717del, NM_001369458.1:c.*4710_*4717del, NM_001369458.1:c.*4711_*4717del, NM_001369458.1:c.*4712_*4717del, NM_001369458.1:c.*4713_*4717del, NM_001369458.1:c.*4714_*4717del, NM_001369458.1:c.*4715_*4717del, NM_001369458.1:c.*4716_*4717del, NM_001369458.1:c.*4717del, NM_001369458.1:c.*4717dup, NM_001369458.1:c.*4716_*4717dup, NM_001369458.1:c.*4715_*4717dup, NM_001369458.1:c.*4714_*4717dup, NM_001369458.1:c.*4713_*4717dup, NM_001369458.1:c.*4711_*4717dup, NM_001369458.1:c.*4710_*4717dup, NM_001369458.1:c.*4701_*4717dup, NM_001369458.1:c.*4700_*4717dup, NM_001369472.1:c.*4820_*4829del, NM_001369472.1:c.*4822_*4829del, NM_001369472.1:c.*4823_*4829del, NM_001369472.1:c.*4824_*4829del, NM_001369472.1:c.*4825_*4829del, NM_001369472.1:c.*4826_*4829del, NM_001369472.1:c.*4827_*4829del, NM_001369472.1:c.*4828_*4829del, NM_001369472.1:c.*4829del, NM_001369472.1:c.*4829dup, NM_001369472.1:c.*4828_*4829dup, NM_001369472.1:c.*4827_*4829dup, NM_001369472.1:c.*4826_*4829dup, NM_001369472.1:c.*4825_*4829dup, NM_001369472.1:c.*4823_*4829dup, NM_001369472.1:c.*4822_*4829dup, NM_001369472.1:c.*4813_*4829dup, NM_001369472.1:c.*4812_*4829dup, NM_001369473.1:c.*4820_*4829del, NM_001369473.1:c.*4822_*4829del, NM_001369473.1:c.*4823_*4829del, NM_001369473.1:c.*4824_*4829del, NM_001369473.1:c.*4825_*4829del, NM_001369473.1:c.*4826_*4829del, NM_001369473.1:c.*4827_*4829del, NM_001369473.1:c.*4828_*4829del, NM_001369473.1:c.*4829del, NM_001369473.1:c.*4829dup, NM_001369473.1:c.*4828_*4829dup, NM_001369473.1:c.*4827_*4829dup, NM_001369473.1:c.*4826_*4829dup, NM_001369473.1:c.*4825_*4829dup, NM_001369473.1:c.*4823_*4829dup, NM_001369473.1:c.*4822_*4829dup, NM_001369473.1:c.*4813_*4829dup, NM_001369473.1:c.*4812_*4829dup, NM_001369459.1:c.*4708_*4717del, NM_001369459.1:c.*4710_*4717del, NM_001369459.1:c.*4711_*4717del, NM_001369459.1:c.*4712_*4717del, NM_001369459.1:c.*4713_*4717del, NM_001369459.1:c.*4714_*4717del, NM_001369459.1:c.*4715_*4717del, NM_001369459.1:c.*4716_*4717del, NM_001369459.1:c.*4717del, NM_001369459.1:c.*4717dup, NM_001369459.1:c.*4716_*4717dup, NM_001369459.1:c.*4715_*4717dup, NM_001369459.1:c.*4714_*4717dup, NM_001369459.1:c.*4713_*4717dup, NM_001369459.1:c.*4711_*4717dup, NM_001369459.1:c.*4710_*4717dup, NM_001369459.1:c.*4701_*4717dup, NM_001369459.1:c.*4700_*4717dup, NM_001369465.1:c.*4820_*4829del, NM_001369465.1:c.*4822_*4829del, NM_001369465.1:c.*4823_*4829del, NM_001369465.1:c.*4824_*4829del, NM_001369465.1:c.*4825_*4829del, NM_001369465.1:c.*4826_*4829del, NM_001369465.1:c.*4827_*4829del, NM_001369465.1:c.*4828_*4829del, NM_001369465.1:c.*4829del, NM_001369465.1:c.*4829dup, NM_001369465.1:c.*4828_*4829dup, NM_001369465.1:c.*4827_*4829dup, NM_001369465.1:c.*4826_*4829dup, NM_001369465.1:c.*4825_*4829dup, NM_001369465.1:c.*4823_*4829dup, NM_001369465.1:c.*4822_*4829dup, NM_001369465.1:c.*4813_*4829dup, NM_001369465.1:c.*4812_*4829dup, NM_001369478.1:c.*4820_*4829del, NM_001369478.1:c.*4822_*4829del, NM_001369478.1:c.*4823_*4829del, NM_001369478.1:c.*4824_*4829del, NM_001369478.1:c.*4825_*4829del, NM_001369478.1:c.*4826_*4829del, NM_001369478.1:c.*4827_*4829del, NM_001369478.1:c.*4828_*4829del, NM_001369478.1:c.*4829del, NM_001369478.1:c.*4829dup, NM_001369478.1:c.*4828_*4829dup, NM_001369478.1:c.*4827_*4829dup, NM_001369478.1:c.*4826_*4829dup, NM_001369478.1:c.*4825_*4829dup, NM_001369478.1:c.*4823_*4829dup, NM_001369478.1:c.*4822_*4829dup, NM_001369478.1:c.*4813_*4829dup, NM_001369478.1:c.*4812_*4829dup, NM_001369462.1:c.*4708_*4717del, NM_001369462.1:c.*4710_*4717del, NM_001369462.1:c.*4711_*4717del, NM_001369462.1:c.*4712_*4717del, NM_001369462.1:c.*4713_*4717del, NM_001369462.1:c.*4714_*4717del, NM_001369462.1:c.*4715_*4717del, NM_001369462.1:c.*4716_*4717del, NM_001369462.1:c.*4717del, NM_001369462.1:c.*4717dup, NM_001369462.1:c.*4716_*4717dup, NM_001369462.1:c.*4715_*4717dup, NM_001369462.1:c.*4714_*4717dup, NM_001369462.1:c.*4713_*4717dup, NM_001369462.1:c.*4711_*4717dup, NM_001369462.1:c.*4710_*4717dup, NM_001369462.1:c.*4701_*4717dup, NM_001369462.1:c.*4700_*4717dup, NM_001369467.1:c.*4708_*4717del, NM_001369467.1:c.*4710_*4717del, NM_001369467.1:c.*4711_*4717del, NM_001369467.1:c.*4712_*4717del, NM_001369467.1:c.*4713_*4717del, NM_001369467.1:c.*4714_*4717del, NM_001369467.1:c.*4715_*4717del, NM_001369467.1:c.*4716_*4717del, NM_001369467.1:c.*4717del, NM_001369467.1:c.*4717dup, NM_001369467.1:c.*4716_*4717dup, NM_001369467.1:c.*4715_*4717dup, NM_001369467.1:c.*4714_*4717dup, NM_001369467.1:c.*4713_*4717dup, NM_001369467.1:c.*4711_*4717dup, NM_001369467.1:c.*4710_*4717dup, NM_001369467.1:c.*4701_*4717dup, NM_001369467.1:c.*4700_*4717dup, NM_001369469.1:c.*4708_*4717del, NM_001369469.1:c.*4710_*4717del, NM_001369469.1:c.*4711_*4717del, NM_001369469.1:c.*4712_*4717del, NM_001369469.1:c.*4713_*4717del, NM_001369469.1:c.*4714_*4717del, NM_001369469.1:c.*4715_*4717del, NM_001369469.1:c.*4716_*4717del, NM_001369469.1:c.*4717del, NM_001369469.1:c.*4717dup, NM_001369469.1:c.*4716_*4717dup, NM_001369469.1:c.*4715_*4717dup, NM_001369469.1:c.*4714_*4717dup, NM_001369469.1:c.*4713_*4717dup, NM_001369469.1:c.*4711_*4717dup, NM_001369469.1:c.*4710_*4717dup, NM_001369469.1:c.*4701_*4717dup, NM_001369469.1:c.*4700_*4717dup, NM_001369468.1:c.*4820_*4829del, NM_001369468.1:c.*4822_*4829del, NM_001369468.1:c.*4823_*4829del, NM_001369468.1:c.*4824_*4829del, NM_001369468.1:c.*4825_*4829del, NM_001369468.1:c.*4826_*4829del, NM_001369468.1:c.*4827_*4829del, NM_001369468.1:c.*4828_*4829del, NM_001369468.1:c.*4829del, NM_001369468.1:c.*4829dup, NM_001369468.1:c.*4828_*4829dup, NM_001369468.1:c.*4827_*4829dup, NM_001369468.1:c.*4826_*4829dup, NM_001369468.1:c.*4825_*4829dup, NM_001369468.1:c.*4823_*4829dup, NM_001369468.1:c.*4822_*4829dup, NM_001369468.1:c.*4813_*4829dup, NM_001369468.1:c.*4812_*4829dup, NM_001369474.1:c.*4820_*4829del, NM_001369474.1:c.*4822_*4829del, NM_001369474.1:c.*4823_*4829del, NM_001369474.1:c.*4824_*4829del, NM_001369474.1:c.*4825_*4829del, NM_001369474.1:c.*4826_*4829del, NM_001369474.1:c.*4827_*4829del, NM_001369474.1:c.*4828_*4829del, NM_001369474.1:c.*4829del, NM_001369474.1:c.*4829dup, NM_001369474.1:c.*4828_*4829dup, NM_001369474.1:c.*4827_*4829dup, NM_001369474.1:c.*4826_*4829dup, NM_001369474.1:c.*4825_*4829dup, NM_001369474.1:c.*4823_*4829dup, NM_001369474.1:c.*4822_*4829dup, NM_001369474.1:c.*4813_*4829dup, NM_001369474.1:c.*4812_*4829dup, NM_001369476.1:c.*4820_*4829del, NM_001369476.1:c.*4822_*4829del, NM_001369476.1:c.*4823_*4829del, NM_001369476.1:c.*4824_*4829del, NM_001369476.1:c.*4825_*4829del, NM_001369476.1:c.*4826_*4829del, NM_001369476.1:c.*4827_*4829del, NM_001369476.1:c.*4828_*4829del, NM_001369476.1:c.*4829del, NM_001369476.1:c.*4829dup, NM_001369476.1:c.*4828_*4829dup, NM_001369476.1:c.*4827_*4829dup, NM_001369476.1:c.*4826_*4829dup, NM_001369476.1:c.*4825_*4829dup, NM_001369476.1:c.*4823_*4829dup, NM_001369476.1:c.*4822_*4829dup, NM_001369476.1:c.*4813_*4829dup, NM_001369476.1:c.*4812_*4829dup, NR_161383.1:n.5965_5974del, NR_161383.1:n.5967_5974del, NR_161383.1:n.5968_5974del, NR_161383.1:n.5969_5974del, NR_161383.1:n.5970_5974del, NR_161383.1:n.5971_5974del, NR_161383.1:n.5972_5974del, NR_161383.1:n.5973_5974del, NR_161383.1:n.5974del, NR_161383.1:n.5974dup, NR_161383.1:n.5973_5974dup, NR_161383.1:n.5972_5974dup, NR_161383.1:n.5971_5974dup, NR_161383.1:n.5970_5974dup, NR_161383.1:n.5968_5974dup, NR_161383.1:n.5967_5974dup, NR_161383.1:n.5958_5974dup, NR_161383.1:n.5957_5974dup, NM_001369479.1:c.*4708_*4717del, NM_001369479.1:c.*4710_*4717del, NM_001369479.1:c.*4711_*4717del, NM_001369479.1:c.*4712_*4717del, NM_001369479.1:c.*4713_*4717del, NM_001369479.1:c.*4714_*4717del, NM_001369479.1:c.*4715_*4717del, NM_001369479.1:c.*4716_*4717del, NM_001369479.1:c.*4717del, NM_001369479.1:c.*4717dup, NM_001369479.1:c.*4716_*4717dup, NM_001369479.1:c.*4715_*4717dup, NM_001369479.1:c.*4714_*4717dup, NM_001369479.1:c.*4713_*4717dup, NM_001369479.1:c.*4711_*4717dup, NM_001369479.1:c.*4710_*4717dup, NM_001369479.1:c.*4701_*4717dup, NM_001369479.1:c.*4700_*4717dup, NR_161385.1:n.5667_5676del, NR_161385.1:n.5669_5676del, NR_161385.1:n.5670_5676del, NR_161385.1:n.5671_5676del, NR_161385.1:n.5672_5676del, NR_161385.1:n.5673_5676del, NR_161385.1:n.5674_5676del, NR_161385.1:n.5675_5676del, NR_161385.1:n.5676del, NR_161385.1:n.5676dup, NR_161385.1:n.5675_5676dup, NR_161385.1:n.5674_5676dup, NR_161385.1:n.5673_5676dup, NR_161385.1:n.5672_5676dup, NR_161385.1:n.5670_5676dup, NR_161385.1:n.5669_5676dup, NR_161385.1:n.5660_5676dup, NR_161385.1:n.5659_5676dup, NR_161382.1:n.5617_5626del, NR_161382.1:n.5619_5626del, NR_161382.1:n.5620_5626del, NR_161382.1:n.5621_5626del, NR_161382.1:n.5622_5626del, NR_161382.1:n.5623_5626del, NR_161382.1:n.5624_5626del, NR_161382.1:n.5625_5626del, NR_161382.1:n.5626del, NR_161382.1:n.5626dup, NR_161382.1:n.5625_5626dup, NR_161382.1:n.5624_5626dup, NR_161382.1:n.5623_5626dup, NR_161382.1:n.5622_5626dup, NR_161382.1:n.5620_5626dup, NR_161382.1:n.5619_5626dup, NR_161382.1:n.5610_5626dup, NR_161382.1:n.5609_5626dup, NR_161384.1:n.5615_5624del, NR_161384.1:n.5617_5624del, NR_161384.1:n.5618_5624del, NR_161384.1:n.5619_5624del, NR_161384.1:n.5620_5624del, NR_161384.1:n.5621_5624del, NR_161384.1:n.5622_5624del, NR_161384.1:n.5623_5624del, NR_161384.1:n.5624del, NR_161384.1:n.5624dup, NR_161384.1:n.5623_5624dup, NR_161384.1:n.5622_5624dup, NR_161384.1:n.5621_5624dup, NR_161384.1:n.5620_5624dup, NR_161384.1:n.5618_5624dup, NR_161384.1:n.5617_5624dup, NR_161384.1:n.5608_5624dup, NR_161384.1:n.5607_5624dup, NM_001369480.1:c.*4820_*4829del, NM_001369480.1:c.*4822_*4829del, NM_001369480.1:c.*4823_*4829del, NM_001369480.1:c.*4824_*4829del, NM_001369480.1:c.*4825_*4829del, NM_001369480.1:c.*4826_*4829del, NM_001369480.1:c.*4827_*4829del, NM_001369480.1:c.*4828_*4829del, NM_001369480.1:c.*4829del, NM_001369480.1:c.*4829dup, NM_001369480.1:c.*4828_*4829dup, NM_001369480.1:c.*4827_*4829dup, NM_001369480.1:c.*4826_*4829dup, NM_001369480.1:c.*4825_*4829dup, NM_001369480.1:c.*4823_*4829dup, NM_001369480.1:c.*4822_*4829dup, NM_001369480.1:c.*4813_*4829dup, NM_001369480.1:c.*4812_*4829dup

      3.

      rs1490612654 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:14307428 (GRCh38)
        9:14307427 (GRCh37)
        Canonical SPDI:
        NC_000009.12:14307427:G:A
        Gene:
        NFIB (Varview)
        Functional Consequence:
        intron_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
        Validated:
        by frequency,by alfa
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        HGVS:

        4.

        rs1489502974 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:14146736 (GRCh38)
          9:14146735 (GRCh37)
          Canonical SPDI:
          NC_000009.12:14146735:G:A
          Gene:
          NFIB (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.14146736G>A, NC_000009.11:g.14146735G>A, NM_005596.3:c.878C>T, NM_001190737.2:c.878C>T, NM_001190737.1:c.878C>T, NM_001190738.2:c.956C>T, NM_001190738.1:c.956C>T, NM_001282787.2:c.122C>T, NM_001282787.1:c.122C>T, NM_001369461.1:c.878C>T, NM_001369460.1:c.866C>T, NM_001369464.1:c.878C>T, NM_001369471.1:c.878C>T, NM_001369463.1:c.866C>T, NM_001369477.1:c.824C>T, NM_001369466.1:c.866C>T, NM_001369475.1:c.653C>T, NM_001369470.1:c.641C>T, NM_001369458.1:c.944C>T, NM_001369472.1:c.866C>T, NM_001369473.1:c.866C>T, NM_001369459.1:c.944C>T, NM_001369465.1:c.851C>T, NM_001369478.1:c.641C>T, NM_001369462.1:c.944C>T, NM_001369467.1:c.851C>T, NM_001369469.1:c.734C>T, NM_001369468.1:c.944C>T, NM_001369474.1:c.863C>T, NM_001369476.1:c.851C>T, NR_161383.1:n.763C>T, NM_001369479.1:c.341C>T, NR_161385.1:n.462C>T, NR_161382.1:n.412C>T, NR_161384.1:n.410C>T, NM_001369480.1:c.341C>T, NP_005587.2:p.Pro293Leu, NP_001177666.1:p.Pro293Leu, NP_001177667.1:p.Pro319Leu, NP_001269716.1:p.Pro41Leu, NP_001356390.1:p.Pro293Leu, NP_001356389.1:p.Pro289Leu, NP_001356393.1:p.Pro293Leu, NP_001356400.1:p.Pro293Leu, NP_001356392.1:p.Pro289Leu, NP_001356406.1:p.Pro275Leu, NP_001356395.1:p.Pro289Leu, NP_001356404.1:p.Pro218Leu, NP_001356399.1:p.Pro214Leu, NP_001356387.1:p.Pro315Leu, NP_001356401.1:p.Pro289Leu, NP_001356402.1:p.Pro289Leu, NP_001356388.1:p.Pro315Leu, NP_001356394.1:p.Pro284Leu, NP_001356407.1:p.Pro214Leu, NP_001356391.1:p.Pro315Leu, NP_001356396.1:p.Pro284Leu, NP_001356398.1:p.Pro245Leu, NP_001356397.1:p.Pro315Leu, NP_001356403.1:p.Pro288Leu, NP_001356405.1:p.Pro284Leu, NP_001356408.1:p.Pro114Leu, NP_001356409.1:p.Pro114Leu

          5.

          rs1489031779 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>G [Show Flanks]
            Chromosome:
            9:14085180 (GRCh38)
            9:14085179 (GRCh37)
            Canonical SPDI:
            NC_000009.12:14085179:T:G
            Gene:
            NFIB (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency,by alfa
            MAF:
            G=0./0 (ALFA)
            G=0.000004/1 (TOPMED)
            HGVS:
            NC_000009.12:g.14085180T>G, NC_000009.11:g.14085179T>G, NM_005596.3:c.*3129A>C, NM_001190737.2:c.*3129A>C, NM_001190737.1:c.*3129A>C, NM_001190738.2:c.*3129A>C, NM_001190738.1:c.*3129A>C, NM_001282787.2:c.*3017A>C, NM_001282787.1:c.*3017A>C, NM_001369461.1:c.*3017A>C, NM_001369460.1:c.*3017A>C, NM_001369464.1:c.*3017A>C, NM_001369471.1:c.*3129A>C, NM_001369463.1:c.*3061A>C, NM_001369477.1:c.*3129A>C, NM_001369466.1:c.*3017A>C, NM_001369475.1:c.*3017A>C, NM_001369470.1:c.*3129A>C, NM_001369458.1:c.*3017A>C, NM_001369472.1:c.*3129A>C, NM_001369473.1:c.*3129A>C, NM_001369459.1:c.*3017A>C, NM_001369465.1:c.*3129A>C, NM_001369478.1:c.*3129A>C, NM_001369462.1:c.*3017A>C, NM_001369467.1:c.*3017A>C, NM_001369469.1:c.*3017A>C, NM_001369468.1:c.*3129A>C, NM_001369474.1:c.*3129A>C, NM_001369476.1:c.*3129A>C, NR_161383.1:n.4274A>C, NM_001369479.1:c.*3017A>C, NR_161385.1:n.3976A>C, NR_161382.1:n.3926A>C, NR_161384.1:n.3924A>C, NM_001369480.1:c.*3129A>C

            6.

            rs1489010347 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              9:14085165 (GRCh38)
              9:14085164 (GRCh37)
              Canonical SPDI:
              NC_000009.12:14085164:T:C
              Gene:
              NFIB (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000019/5 (TOPMED)
              C=0.000036/5 (GnomAD)
              HGVS:
              NC_000009.12:g.14085165T>C, NC_000009.11:g.14085164T>C, NM_005596.3:c.*3144A>G, NM_001190737.2:c.*3144A>G, NM_001190737.1:c.*3144A>G, NM_001190738.2:c.*3144A>G, NM_001190738.1:c.*3144A>G, NM_001282787.2:c.*3032A>G, NM_001282787.1:c.*3032A>G, NM_001369461.1:c.*3032A>G, NM_001369460.1:c.*3032A>G, NM_001369464.1:c.*3032A>G, NM_001369471.1:c.*3144A>G, NM_001369463.1:c.*3076A>G, NM_001369477.1:c.*3144A>G, NM_001369466.1:c.*3032A>G, NM_001369475.1:c.*3032A>G, NM_001369470.1:c.*3144A>G, NM_001369458.1:c.*3032A>G, NM_001369472.1:c.*3144A>G, NM_001369473.1:c.*3144A>G, NM_001369459.1:c.*3032A>G, NM_001369465.1:c.*3144A>G, NM_001369478.1:c.*3144A>G, NM_001369462.1:c.*3032A>G, NM_001369467.1:c.*3032A>G, NM_001369469.1:c.*3032A>G, NM_001369468.1:c.*3144A>G, NM_001369474.1:c.*3144A>G, NM_001369476.1:c.*3144A>G, NR_161383.1:n.4289A>G, NM_001369479.1:c.*3032A>G, NR_161385.1:n.3991A>G, NR_161382.1:n.3941A>G, NR_161384.1:n.3939A>G, NM_001369480.1:c.*3144A>G

              7.

              rs1488989560 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                9:14313530 (GRCh38)
                9:14313529 (GRCh37)
                Canonical SPDI:
                NC_000009.12:14313529:A:C,NC_000009.12:14313529:A:G
                Gene:
                NFIB (Varview)
                Functional Consequence:
                5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1488869939 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C [Show Flanks]
                  Chromosome:
                  9:14087643 (GRCh38)
                  9:14087642 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:14087642:G:A,NC_000009.12:14087642:G:C
                  Gene:
                  NFIB (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0./0 (ALFA)
                  A=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000009.12:g.14087643G>A, NC_000009.12:g.14087643G>C, NC_000009.11:g.14087642G>A, NC_000009.11:g.14087642G>C, NM_005596.3:c.*666C>T, NM_005596.3:c.*666C>G, NM_001190737.2:c.*666C>T, NM_001190737.2:c.*666C>G, NM_001190737.1:c.*666C>T, NM_001190737.1:c.*666C>G, NM_001190738.2:c.*666C>T, NM_001190738.2:c.*666C>G, NM_001190738.1:c.*666C>T, NM_001190738.1:c.*666C>G, NM_001282787.2:c.*554C>T, NM_001282787.2:c.*554C>G, NM_001282787.1:c.*554C>T, NM_001282787.1:c.*554C>G, NM_001369461.1:c.*554C>T, NM_001369461.1:c.*554C>G, NM_001369460.1:c.*554C>T, NM_001369460.1:c.*554C>G, NM_001369464.1:c.*554C>T, NM_001369464.1:c.*554C>G, NM_001369471.1:c.*666C>T, NM_001369471.1:c.*666C>G, NM_001369463.1:c.*598C>T, NM_001369463.1:c.*598C>G, NM_001369477.1:c.*666C>T, NM_001369477.1:c.*666C>G, NM_001369466.1:c.*554C>T, NM_001369466.1:c.*554C>G, NM_001369475.1:c.*554C>T, NM_001369475.1:c.*554C>G, NM_001369470.1:c.*666C>T, NM_001369470.1:c.*666C>G, NM_001369458.1:c.*554C>T, NM_001369458.1:c.*554C>G, NM_001369472.1:c.*666C>T, NM_001369472.1:c.*666C>G, NM_001369473.1:c.*666C>T, NM_001369473.1:c.*666C>G, NM_001369459.1:c.*554C>T, NM_001369459.1:c.*554C>G, NM_001369465.1:c.*666C>T, NM_001369465.1:c.*666C>G, NM_001369478.1:c.*666C>T, NM_001369478.1:c.*666C>G, NM_001369462.1:c.*554C>T, NM_001369462.1:c.*554C>G, NM_001369467.1:c.*554C>T, NM_001369467.1:c.*554C>G, NM_001369469.1:c.*554C>T, NM_001369469.1:c.*554C>G, NM_001369468.1:c.*666C>T, NM_001369468.1:c.*666C>G, NM_001369474.1:c.*666C>T, NM_001369474.1:c.*666C>G, NM_001369476.1:c.*666C>T, NM_001369476.1:c.*666C>G, NR_161383.1:n.1811C>T, NR_161383.1:n.1811C>G, NM_001369479.1:c.*554C>T, NM_001369479.1:c.*554C>G, NR_161385.1:n.1513C>T, NR_161385.1:n.1513C>G, NR_161382.1:n.1463C>T, NR_161382.1:n.1463C>G, NR_161384.1:n.1461C>T, NR_161384.1:n.1461C>G, NM_001369480.1:c.*666C>T, NM_001369480.1:c.*666C>G

                  9.

                  rs1488385567 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>A [Show Flanks]
                    Chromosome:
                    9:14125645 (GRCh38)
                    9:14125644 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:14125644:T:A
                    Gene:
                    NFIB (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000004/1 (GnomAD_exomes)
                    A=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000009.12:g.14125645T>A, NC_000009.11:g.14125644T>A, NM_005596.3:c.1047A>T, NM_001190737.2:c.1047A>T, NM_001190737.1:c.1047A>T, NM_001190738.2:c.1125A>T, NM_001190738.1:c.1125A>T, NM_001282787.2:c.291A>T, NM_001282787.1:c.291A>T, NM_001369461.1:c.1047A>T, NM_001369460.1:c.1035A>T, NM_001369464.1:c.1047A>T, NM_001369471.1:c.1047A>T, NM_001369463.1:c.1035A>T, NM_001369477.1:c.993A>T, NM_001369466.1:c.1035A>T, NM_001369475.1:c.822A>T, NM_001369470.1:c.810A>T, NM_001369458.1:c.1113A>T, NM_001369472.1:c.1035A>T, NM_001369473.1:c.1035A>T, NM_001369459.1:c.1113A>T, NM_001369465.1:c.1020A>T, NM_001369478.1:c.810A>T, NM_001369462.1:c.1113A>T, NM_001369467.1:c.1020A>T, NM_001369469.1:c.903A>T, NM_001369468.1:c.1113A>T, NM_001369474.1:c.1032A>T, NM_001369476.1:c.1020A>T, NR_161383.1:n.932A>T, NM_001369479.1:c.510A>T, NR_161385.1:n.631A>T, NR_161382.1:n.581A>T, NR_161384.1:n.579A>T, NM_001369480.1:c.510A>T

                    10.

                    rs1487898865 has merged into rs960514516 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      AAAA>-,AA,AAA,AAAAA [Show Flanks]
                      Chromosome:
                      9:14082791 (GRCh38)
                      9:14082790 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:14082785:AAAAAAAAA:AAAAA,NC_000009.12:14082785:AAAAAAAAA:AAAAAAA,NC_000009.12:14082785:AAAAAAAAA:AAAAAAAA,NC_000009.12:14082785:AAAAAAAAA:AAAAAAAAAA
                      Gene:
                      NFIB (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      AAAAAAA=0./0 (ALFA)
                      HGVS:
                      NC_000009.12:g.14082791_14082794del, NC_000009.12:g.14082793_14082794del, NC_000009.12:g.14082794del, NC_000009.12:g.14082794dup, NC_000009.11:g.14082790_14082793del, NC_000009.11:g.14082792_14082793del, NC_000009.11:g.14082793del, NC_000009.11:g.14082793dup, NM_005596.3:c.*5520_*5523del, NM_005596.3:c.*5522_*5523del, NM_005596.3:c.*5523del, NM_005596.3:c.*5523dup, NM_001190737.2:c.*5520_*5523del, NM_001190737.2:c.*5522_*5523del, NM_001190737.2:c.*5523del, NM_001190737.2:c.*5523dup, NM_001190737.1:c.*5520_*5523del, NM_001190737.1:c.*5522_*5523del, NM_001190737.1:c.*5523del, NM_001190737.1:c.*5523dup, NM_001190738.2:c.*5520_*5523del, NM_001190738.2:c.*5522_*5523del, NM_001190738.2:c.*5523del, NM_001190738.2:c.*5523dup, NM_001190738.1:c.*5520_*5523del, NM_001190738.1:c.*5522_*5523del, NM_001190738.1:c.*5523del, NM_001190738.1:c.*5523dup, NM_001282787.2:c.*5408_*5411del, NM_001282787.2:c.*5410_*5411del, NM_001282787.2:c.*5411del, NM_001282787.2:c.*5411dup, NM_001282787.1:c.*5408_*5411del, NM_001282787.1:c.*5410_*5411del, NM_001282787.1:c.*5411del, NM_001282787.1:c.*5411dup, NM_001369461.1:c.*5408_*5411del, NM_001369461.1:c.*5410_*5411del, NM_001369461.1:c.*5411del, NM_001369461.1:c.*5411dup, NM_001369460.1:c.*5408_*5411del, NM_001369460.1:c.*5410_*5411del, NM_001369460.1:c.*5411del, NM_001369460.1:c.*5411dup, NM_001369464.1:c.*5408_*5411del, NM_001369464.1:c.*5410_*5411del, NM_001369464.1:c.*5411del, NM_001369464.1:c.*5411dup, NM_001369471.1:c.*5520_*5523del, NM_001369471.1:c.*5522_*5523del, NM_001369471.1:c.*5523del, NM_001369471.1:c.*5523dup, NM_001369463.1:c.*5452_*5455del, NM_001369463.1:c.*5454_*5455del, NM_001369463.1:c.*5455del, NM_001369463.1:c.*5455dup, NM_001369477.1:c.*5520_*5523del, NM_001369477.1:c.*5522_*5523del, NM_001369477.1:c.*5523del, NM_001369477.1:c.*5523dup, NM_001369466.1:c.*5408_*5411del, NM_001369466.1:c.*5410_*5411del, NM_001369466.1:c.*5411del, NM_001369466.1:c.*5411dup, NM_001369475.1:c.*5408_*5411del, NM_001369475.1:c.*5410_*5411del, NM_001369475.1:c.*5411del, NM_001369475.1:c.*5411dup, NM_001369470.1:c.*5520_*5523del, NM_001369470.1:c.*5522_*5523del, NM_001369470.1:c.*5523del, NM_001369470.1:c.*5523dup, NM_001369458.1:c.*5408_*5411del, NM_001369458.1:c.*5410_*5411del, NM_001369458.1:c.*5411del, NM_001369458.1:c.*5411dup, NM_001369472.1:c.*5520_*5523del, NM_001369472.1:c.*5522_*5523del, NM_001369472.1:c.*5523del, NM_001369472.1:c.*5523dup, NM_001369473.1:c.*5520_*5523del, NM_001369473.1:c.*5522_*5523del, NM_001369473.1:c.*5523del, NM_001369473.1:c.*5523dup, NM_001369459.1:c.*5408_*5411del, NM_001369459.1:c.*5410_*5411del, NM_001369459.1:c.*5411del, NM_001369459.1:c.*5411dup, NM_001369465.1:c.*5520_*5523del, NM_001369465.1:c.*5522_*5523del, NM_001369465.1:c.*5523del, NM_001369465.1:c.*5523dup, NM_001369478.1:c.*5520_*5523del, NM_001369478.1:c.*5522_*5523del, NM_001369478.1:c.*5523del, NM_001369478.1:c.*5523dup, NM_001369462.1:c.*5408_*5411del, NM_001369462.1:c.*5410_*5411del, NM_001369462.1:c.*5411del, NM_001369462.1:c.*5411dup, NM_001369467.1:c.*5408_*5411del, NM_001369467.1:c.*5410_*5411del, NM_001369467.1:c.*5411del, NM_001369467.1:c.*5411dup, NM_001369469.1:c.*5408_*5411del, NM_001369469.1:c.*5410_*5411del, NM_001369469.1:c.*5411del, NM_001369469.1:c.*5411dup, NM_001369468.1:c.*5520_*5523del, NM_001369468.1:c.*5522_*5523del, NM_001369468.1:c.*5523del, NM_001369468.1:c.*5523dup, NM_001369474.1:c.*5520_*5523del, NM_001369474.1:c.*5522_*5523del, NM_001369474.1:c.*5523del, NM_001369474.1:c.*5523dup, NM_001369476.1:c.*5520_*5523del, NM_001369476.1:c.*5522_*5523del, NM_001369476.1:c.*5523del, NM_001369476.1:c.*5523dup, NR_161383.1:n.6665_6668del, NR_161383.1:n.6667_6668del, NR_161383.1:n.6668del, NR_161383.1:n.6668dup, NM_001369479.1:c.*5408_*5411del, NM_001369479.1:c.*5410_*5411del, NM_001369479.1:c.*5411del, NM_001369479.1:c.*5411dup, NR_161385.1:n.6367_6370del, NR_161385.1:n.6369_6370del, NR_161385.1:n.6370del, NR_161385.1:n.6370dup, NR_161382.1:n.6317_6320del, NR_161382.1:n.6319_6320del, NR_161382.1:n.6320del, NR_161382.1:n.6320dup, NR_161384.1:n.6315_6318del, NR_161384.1:n.6317_6318del, NR_161384.1:n.6318del, NR_161384.1:n.6318dup, NM_001369480.1:c.*5520_*5523del, NM_001369480.1:c.*5522_*5523del, NM_001369480.1:c.*5523del, NM_001369480.1:c.*5523dup

                      11.

                      rs1487496911 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        9:14082739 (GRCh38)
                        9:14082738 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:14082738:C:A,NC_000009.12:14082738:C:T
                        Gene:
                        NFIB (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000016/2 (GnomAD)
                        T=0.000119/2 (TOMMO)
                        A=0.016427/48 (KOREAN)
                        HGVS:
                        NC_000009.12:g.14082739C>A, NC_000009.12:g.14082739C>T, NC_000009.11:g.14082738C>A, NC_000009.11:g.14082738C>T, NM_005596.3:c.*5570G>T, NM_005596.3:c.*5570G>A, NM_001190737.2:c.*5570G>T, NM_001190737.2:c.*5570G>A, NM_001190737.1:c.*5570G>T, NM_001190737.1:c.*5570G>A, NM_001190738.2:c.*5570G>T, NM_001190738.2:c.*5570G>A, NM_001190738.1:c.*5570G>T, NM_001190738.1:c.*5570G>A, NM_001282787.2:c.*5458G>T, NM_001282787.2:c.*5458G>A, NM_001282787.1:c.*5458G>T, NM_001282787.1:c.*5458G>A, NM_001369461.1:c.*5458G>T, NM_001369461.1:c.*5458G>A, NM_001369460.1:c.*5458G>T, NM_001369460.1:c.*5458G>A, NM_001369464.1:c.*5458G>T, NM_001369464.1:c.*5458G>A, NM_001369471.1:c.*5570G>T, NM_001369471.1:c.*5570G>A, NM_001369463.1:c.*5502G>T, NM_001369463.1:c.*5502G>A, NM_001369477.1:c.*5570G>T, NM_001369477.1:c.*5570G>A, NM_001369466.1:c.*5458G>T, NM_001369466.1:c.*5458G>A, NM_001369475.1:c.*5458G>T, NM_001369475.1:c.*5458G>A, NM_001369470.1:c.*5570G>T, NM_001369470.1:c.*5570G>A, NM_001369458.1:c.*5458G>T, NM_001369458.1:c.*5458G>A, NM_001369472.1:c.*5570G>T, NM_001369472.1:c.*5570G>A, NM_001369473.1:c.*5570G>T, NM_001369473.1:c.*5570G>A, NM_001369459.1:c.*5458G>T, NM_001369459.1:c.*5458G>A, NM_001369465.1:c.*5570G>T, NM_001369465.1:c.*5570G>A, NM_001369478.1:c.*5570G>T, NM_001369478.1:c.*5570G>A, NM_001369462.1:c.*5458G>T, NM_001369462.1:c.*5458G>A, NM_001369467.1:c.*5458G>T, NM_001369467.1:c.*5458G>A, NM_001369469.1:c.*5458G>T, NM_001369469.1:c.*5458G>A, NM_001369468.1:c.*5570G>T, NM_001369468.1:c.*5570G>A, NM_001369474.1:c.*5570G>T, NM_001369474.1:c.*5570G>A, NM_001369476.1:c.*5570G>T, NM_001369476.1:c.*5570G>A, NR_161383.1:n.6715G>T, NR_161383.1:n.6715G>A, NM_001369479.1:c.*5458G>T, NM_001369479.1:c.*5458G>A, NR_161385.1:n.6417G>T, NR_161385.1:n.6417G>A, NR_161382.1:n.6367G>T, NR_161382.1:n.6367G>A, NR_161384.1:n.6365G>T, NR_161384.1:n.6365G>A, NM_001369480.1:c.*5570G>T, NM_001369480.1:c.*5570G>A

                        12.

                        rs1487448752 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:14083488 (GRCh38)
                          9:14083487 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:14083487:A:G
                          Gene:
                          NFIB (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          NC_000009.12:g.14083488A>G, NC_000009.11:g.14083487A>G, NM_005596.3:c.*4821T>C, NM_001190737.2:c.*4821T>C, NM_001190737.1:c.*4821T>C, NM_001190738.2:c.*4821T>C, NM_001190738.1:c.*4821T>C, NM_001282787.2:c.*4709T>C, NM_001282787.1:c.*4709T>C, NM_001369461.1:c.*4709T>C, NM_001369460.1:c.*4709T>C, NM_001369464.1:c.*4709T>C, NM_001369471.1:c.*4821T>C, NM_001369463.1:c.*4753T>C, NM_001369477.1:c.*4821T>C, NM_001369466.1:c.*4709T>C, NM_001369475.1:c.*4709T>C, NM_001369470.1:c.*4821T>C, NM_001369458.1:c.*4709T>C, NM_001369472.1:c.*4821T>C, NM_001369473.1:c.*4821T>C, NM_001369459.1:c.*4709T>C, NM_001369465.1:c.*4821T>C, NM_001369478.1:c.*4821T>C, NM_001369462.1:c.*4709T>C, NM_001369467.1:c.*4709T>C, NM_001369469.1:c.*4709T>C, NM_001369468.1:c.*4821T>C, NM_001369474.1:c.*4821T>C, NM_001369476.1:c.*4821T>C, NR_161383.1:n.5966T>C, NM_001369479.1:c.*4709T>C, NR_161385.1:n.5668T>C, NR_161382.1:n.5618T>C, NR_161384.1:n.5616T>C, NM_001369480.1:c.*4821T>C

                          13.

                          rs1487238766 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CA>- [Show Flanks]
                            Chromosome:
                            9:14082369 (GRCh38)
                            9:14082368 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:14082363:ACACACA:ACACA
                            Gene:
                            NFIB (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ACACA=0./0 (ALFA)
                            HGVS:
                            NC_000009.12:g.14082365CA[2], NC_000009.11:g.14082364CA[2], NM_005596.3:c.*5940GT[2], NM_001190737.2:c.*5940GT[2], NM_001190737.1:c.*5940GT[2], NM_001190738.2:c.*5940GT[2], NM_001190738.1:c.*5940GT[2], NM_001282787.2:c.*5828GT[2], NM_001282787.1:c.*5828GT[2], NM_001369461.1:c.*5828GT[2], NM_001369460.1:c.*5828GT[2], NM_001369464.1:c.*5828GT[2], NM_001369471.1:c.*5940GT[2], NM_001369463.1:c.*5872GT[2], NM_001369477.1:c.*5940GT[2], NM_001369466.1:c.*5828GT[2], NM_001369475.1:c.*5828GT[2], NM_001369470.1:c.*5940GT[2], NM_001369458.1:c.*5828GT[2], NM_001369472.1:c.*5940GT[2], NM_001369473.1:c.*5940GT[2], NM_001369459.1:c.*5828GT[2], NM_001369465.1:c.*5940GT[2], NM_001369478.1:c.*5940GT[2], NM_001369462.1:c.*5828GT[2], NM_001369467.1:c.*5828GT[2], NM_001369469.1:c.*5828GT[2], NM_001369468.1:c.*5940GT[2], NM_001369474.1:c.*5940GT[2], NM_001369476.1:c.*5940GT[2], NR_161383.1:n.7085GT[2], NM_001369479.1:c.*5828GT[2], NR_161385.1:n.6787GT[2], NR_161382.1:n.6737GT[2], NR_161384.1:n.6735GT[2], NM_001369480.1:c.*5940GT[2]

                            14.

                            rs1487070236 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              9:14084571 (GRCh38)
                              9:14084570 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:14084570:T:C
                              Gene:
                              NFIB (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000009.12:g.14084571T>C, NC_000009.11:g.14084570T>C, NM_005596.3:c.*3738A>G, NM_001190737.2:c.*3738A>G, NM_001190737.1:c.*3738A>G, NM_001190738.2:c.*3738A>G, NM_001190738.1:c.*3738A>G, NM_001282787.2:c.*3626A>G, NM_001282787.1:c.*3626A>G, NM_001369461.1:c.*3626A>G, NM_001369460.1:c.*3626A>G, NM_001369464.1:c.*3626A>G, NM_001369471.1:c.*3738A>G, NM_001369463.1:c.*3670A>G, NM_001369477.1:c.*3738A>G, NM_001369466.1:c.*3626A>G, NM_001369475.1:c.*3626A>G, NM_001369470.1:c.*3738A>G, NM_001369458.1:c.*3626A>G, NM_001369472.1:c.*3738A>G, NM_001369473.1:c.*3738A>G, NM_001369459.1:c.*3626A>G, NM_001369465.1:c.*3738A>G, NM_001369478.1:c.*3738A>G, NM_001369462.1:c.*3626A>G, NM_001369467.1:c.*3626A>G, NM_001369469.1:c.*3626A>G, NM_001369468.1:c.*3738A>G, NM_001369474.1:c.*3738A>G, NM_001369476.1:c.*3738A>G, NR_161383.1:n.4883A>G, NM_001369479.1:c.*3626A>G, NR_161385.1:n.4585A>G, NR_161382.1:n.4535A>G, NR_161384.1:n.4533A>G, NM_001369480.1:c.*3738A>G

                              15.

                              rs1486979628 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                9:14150236 (GRCh38)
                                9:14150235 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:14150235:A:T
                                Gene:
                                NFIB (Varview)
                                Functional Consequence:
                                missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000011/3 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:
                                NC_000009.12:g.14150236A>T, NC_000009.11:g.14150235A>T, NM_005596.3:c.715T>A, NM_001190737.2:c.715T>A, NM_001190737.1:c.715T>A, NM_001190738.2:c.793T>A, NM_001190738.1:c.793T>A, NM_001282787.2:c.-42T>A, NM_001282787.1:c.-42T>A, NM_001369461.1:c.715T>A, NM_001369460.1:c.703T>A, NM_001369464.1:c.715T>A, NM_001369471.1:c.715T>A, NM_001369463.1:c.703T>A, NM_001369477.1:c.661T>A, NM_001369466.1:c.703T>A, NM_001369475.1:c.490T>A, NM_001369470.1:c.478T>A, NM_001369458.1:c.781T>A, NM_001369472.1:c.703T>A, NM_001369473.1:c.703T>A, NM_001369459.1:c.781T>A, NM_001369465.1:c.688T>A, NM_001369478.1:c.478T>A, NM_001369462.1:c.781T>A, NM_001369467.1:c.688T>A, NM_001369469.1:c.571T>A, NM_001369468.1:c.781T>A, NM_001369474.1:c.700T>A, NM_001369476.1:c.688T>A, NR_161383.1:n.600T>A, NM_001369479.1:c.178T>A, NR_161385.1:n.299T>A, NR_161382.1:n.249T>A, NR_161384.1:n.247T>A, NM_001369480.1:c.178T>A, NP_005587.2:p.Phe239Ile, NP_001177666.1:p.Phe239Ile, NP_001177667.1:p.Phe265Ile, NP_001356390.1:p.Phe239Ile, NP_001356389.1:p.Phe235Ile, NP_001356393.1:p.Phe239Ile, NP_001356400.1:p.Phe239Ile, NP_001356392.1:p.Phe235Ile, NP_001356406.1:p.Phe221Ile, NP_001356395.1:p.Phe235Ile, NP_001356404.1:p.Phe164Ile, NP_001356399.1:p.Phe160Ile, NP_001356387.1:p.Phe261Ile, NP_001356401.1:p.Phe235Ile, NP_001356402.1:p.Phe235Ile, NP_001356388.1:p.Phe261Ile, NP_001356394.1:p.Phe230Ile, NP_001356407.1:p.Phe160Ile, NP_001356391.1:p.Phe261Ile, NP_001356396.1:p.Phe230Ile, NP_001356398.1:p.Phe191Ile, NP_001356397.1:p.Phe261Ile, NP_001356403.1:p.Phe234Ile, NP_001356405.1:p.Phe230Ile, NP_001356408.1:p.Phe60Ile, NP_001356409.1:p.Phe60Ile

                                16.

                                rs1486961598 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A [Show Flanks]
                                  Chromosome:
                                  9:14087725 (GRCh38)
                                  9:14087724 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:14087724:C:A
                                  Gene:
                                  NFIB (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.14087725C>A, NC_000009.11:g.14087724C>A, NM_005596.3:c.*584G>T, NM_001190737.2:c.*584G>T, NM_001190737.1:c.*584G>T, NM_001190738.2:c.*584G>T, NM_001190738.1:c.*584G>T, NM_001282787.2:c.*472G>T, NM_001282787.1:c.*472G>T, NM_001369461.1:c.*472G>T, NM_001369460.1:c.*472G>T, NM_001369464.1:c.*472G>T, NM_001369471.1:c.*584G>T, NM_001369463.1:c.*516G>T, NM_001369477.1:c.*584G>T, NM_001369466.1:c.*472G>T, NM_001369475.1:c.*472G>T, NM_001369470.1:c.*584G>T, NM_001369458.1:c.*472G>T, NM_001369472.1:c.*584G>T, NM_001369473.1:c.*584G>T, NM_001369459.1:c.*472G>T, NM_001369465.1:c.*584G>T, NM_001369478.1:c.*584G>T, NM_001369462.1:c.*472G>T, NM_001369467.1:c.*472G>T, NM_001369469.1:c.*472G>T, NM_001369468.1:c.*584G>T, NM_001369474.1:c.*584G>T, NM_001369476.1:c.*584G>T, NR_161383.1:n.1729G>T, NM_001369479.1:c.*472G>T, NR_161385.1:n.1431G>T, NR_161382.1:n.1381G>T, NR_161384.1:n.1379G>T, NM_001369480.1:c.*584G>T

                                  17.

                                  rs1486695462 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    9:14086859 (GRCh38)
                                    9:14086858 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:14086858:G:C
                                    Gene:
                                    NFIB (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000009.12:g.14086859G>C, NC_000009.11:g.14086858G>C, NM_005596.3:c.*1450C>G, NM_001190737.2:c.*1450C>G, NM_001190737.1:c.*1450C>G, NM_001190738.2:c.*1450C>G, NM_001190738.1:c.*1450C>G, NM_001282787.2:c.*1338C>G, NM_001282787.1:c.*1338C>G, NM_001369461.1:c.*1338C>G, NM_001369460.1:c.*1338C>G, NM_001369464.1:c.*1338C>G, NM_001369471.1:c.*1450C>G, NM_001369463.1:c.*1382C>G, NM_001369477.1:c.*1450C>G, NM_001369466.1:c.*1338C>G, NM_001369475.1:c.*1338C>G, NM_001369470.1:c.*1450C>G, NM_001369458.1:c.*1338C>G, NM_001369472.1:c.*1450C>G, NM_001369473.1:c.*1450C>G, NM_001369459.1:c.*1338C>G, NM_001369465.1:c.*1450C>G, NM_001369478.1:c.*1450C>G, NM_001369462.1:c.*1338C>G, NM_001369467.1:c.*1338C>G, NM_001369469.1:c.*1338C>G, NM_001369468.1:c.*1450C>G, NM_001369474.1:c.*1450C>G, NM_001369476.1:c.*1450C>G, NR_161383.1:n.2595C>G, NM_001369479.1:c.*1338C>G, NR_161385.1:n.2297C>G, NR_161382.1:n.2247C>G, NR_161384.1:n.2245C>G, NM_001369480.1:c.*1450C>G

                                    18.

                                    rs1486666987 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      9:14087234 (GRCh38)
                                      9:14087233 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:14087233:C:T
                                      Gene:
                                      NFIB (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.14087234C>T, NC_000009.11:g.14087233C>T, NM_005596.3:c.*1075G>A, NM_001190737.2:c.*1075G>A, NM_001190737.1:c.*1075G>A, NM_001190738.2:c.*1075G>A, NM_001190738.1:c.*1075G>A, NM_001282787.2:c.*963G>A, NM_001282787.1:c.*963G>A, NM_001369461.1:c.*963G>A, NM_001369460.1:c.*963G>A, NM_001369464.1:c.*963G>A, NM_001369471.1:c.*1075G>A, NM_001369463.1:c.*1007G>A, NM_001369477.1:c.*1075G>A, NM_001369466.1:c.*963G>A, NM_001369475.1:c.*963G>A, NM_001369470.1:c.*1075G>A, NM_001369458.1:c.*963G>A, NM_001369472.1:c.*1075G>A, NM_001369473.1:c.*1075G>A, NM_001369459.1:c.*963G>A, NM_001369465.1:c.*1075G>A, NM_001369478.1:c.*1075G>A, NM_001369462.1:c.*963G>A, NM_001369467.1:c.*963G>A, NM_001369469.1:c.*963G>A, NM_001369468.1:c.*1075G>A, NM_001369474.1:c.*1075G>A, NM_001369476.1:c.*1075G>A, NR_161383.1:n.2220G>A, NM_001369479.1:c.*963G>A, NR_161385.1:n.1922G>A, NR_161382.1:n.1872G>A, NR_161384.1:n.1870G>A, NM_001369480.1:c.*1075G>A

                                      19.

                                      rs1486235233 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        9:14313803 (GRCh38)
                                        9:14313802 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:14313802:G:A
                                        Gene:
                                        NFIB (Varview)
                                        Functional Consequence:
                                        5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000014/2 (GnomAD)
                                        A=0.000015/4 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1485584622 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,C [Show Flanks]
                                          Chromosome:
                                          9:14087096 (GRCh38)
                                          9:14087095 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:14087095:G:A,NC_000009.12:14087095:G:C
                                          Gene:
                                          NFIB (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.14087096G>A, NC_000009.12:g.14087096G>C, NC_000009.11:g.14087095G>A, NC_000009.11:g.14087095G>C, NM_005596.3:c.*1213C>T, NM_005596.3:c.*1213C>G, NM_001190737.2:c.*1213C>T, NM_001190737.2:c.*1213C>G, NM_001190737.1:c.*1213C>T, NM_001190737.1:c.*1213C>G, NM_001190738.2:c.*1213C>T, NM_001190738.2:c.*1213C>G, NM_001190738.1:c.*1213C>T, NM_001190738.1:c.*1213C>G, NM_001282787.2:c.*1101C>T, NM_001282787.2:c.*1101C>G, NM_001282787.1:c.*1101C>T, NM_001282787.1:c.*1101C>G, NM_001369461.1:c.*1101C>T, NM_001369461.1:c.*1101C>G, NM_001369460.1:c.*1101C>T, NM_001369460.1:c.*1101C>G, NM_001369464.1:c.*1101C>T, NM_001369464.1:c.*1101C>G, NM_001369471.1:c.*1213C>T, NM_001369471.1:c.*1213C>G, NM_001369463.1:c.*1145C>T, NM_001369463.1:c.*1145C>G, NM_001369477.1:c.*1213C>T, NM_001369477.1:c.*1213C>G, NM_001369466.1:c.*1101C>T, NM_001369466.1:c.*1101C>G, NM_001369475.1:c.*1101C>T, NM_001369475.1:c.*1101C>G, NM_001369470.1:c.*1213C>T, NM_001369470.1:c.*1213C>G, NM_001369458.1:c.*1101C>T, NM_001369458.1:c.*1101C>G, NM_001369472.1:c.*1213C>T, NM_001369472.1:c.*1213C>G, NM_001369473.1:c.*1213C>T, NM_001369473.1:c.*1213C>G, NM_001369459.1:c.*1101C>T, NM_001369459.1:c.*1101C>G, NM_001369465.1:c.*1213C>T, NM_001369465.1:c.*1213C>G, NM_001369478.1:c.*1213C>T, NM_001369478.1:c.*1213C>G, NM_001369462.1:c.*1101C>T, NM_001369462.1:c.*1101C>G, NM_001369467.1:c.*1101C>T, NM_001369467.1:c.*1101C>G, NM_001369469.1:c.*1101C>T, NM_001369469.1:c.*1101C>G, NM_001369468.1:c.*1213C>T, NM_001369468.1:c.*1213C>G, NM_001369474.1:c.*1213C>T, NM_001369474.1:c.*1213C>G, NM_001369476.1:c.*1213C>T, NM_001369476.1:c.*1213C>G, NR_161383.1:n.2358C>T, NR_161383.1:n.2358C>G, NM_001369479.1:c.*1101C>T, NM_001369479.1:c.*1101C>G, NR_161385.1:n.2060C>T, NR_161385.1:n.2060C>G, NR_161382.1:n.2010C>T, NR_161382.1:n.2010C>G, NR_161384.1:n.2008C>T, NR_161384.1:n.2008C>G, NM_001369480.1:c.*1213C>T, NM_001369480.1:c.*1213C>G

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