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1.

rs1491578505 has merged into rs367570902 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    14:65006169 (GRCh38)
    14:65472887 (GRCh37)
    Canonical SPDI:
    NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65006156:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
    Functional Consequence:
    3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTTTTTT=0./0 (ALFA)
    -=0.4617/2312 (1000Genomes)
    HGVS:
    NC_000014.9:g.65006169_65006173del, NC_000014.9:g.65006170_65006173del, NC_000014.9:g.65006171_65006173del, NC_000014.9:g.65006172_65006173del, NC_000014.9:g.65006173del, NC_000014.9:g.65006173dup, NC_000014.9:g.65006172_65006173dup, NC_000014.9:g.65006171_65006173dup, NC_000014.9:g.65006170_65006173dup, NC_000014.9:g.65006169_65006173dup, NC_000014.9:g.65006166_65006173dup, NC_000014.9:g.65006165_65006173dup, NC_000014.9:g.65006164_65006173dup, NC_000014.9:g.65006163_65006173dup, NC_000014.9:g.65006173_65006174insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65006173_65006174insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65472887_65472891del, NC_000014.8:g.65472888_65472891del, NC_000014.8:g.65472889_65472891del, NC_000014.8:g.65472890_65472891del, NC_000014.8:g.65472891del, NC_000014.8:g.65472891dup, NC_000014.8:g.65472890_65472891dup, NC_000014.8:g.65472889_65472891dup, NC_000014.8:g.65472888_65472891dup, NC_000014.8:g.65472887_65472891dup, NC_000014.8:g.65472884_65472891dup, NC_000014.8:g.65472883_65472891dup, NC_000014.8:g.65472882_65472891dup, NC_000014.8:g.65472881_65472891dup, NC_000014.8:g.65472891_65472892insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65472891_65472892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029830.1:g.101349_101353del, NG_029830.1:g.101350_101353del, NG_029830.1:g.101351_101353del, NG_029830.1:g.101352_101353del, NG_029830.1:g.101353del, NG_029830.1:g.101353dup, NG_029830.1:g.101352_101353dup, NG_029830.1:g.101351_101353dup, NG_029830.1:g.101350_101353dup, NG_029830.1:g.101349_101353dup, NG_029830.1:g.101346_101353dup, NG_029830.1:g.101345_101353dup, NG_029830.1:g.101344_101353dup, NG_029830.1:g.101343_101353dup, NG_029830.1:g.101353_101354insAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.101353_101354insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_197957.4:c.*43_*47del, NM_197957.4:c.*44_*47del, NM_197957.4:c.*45_*47del, NM_197957.4:c.*46_*47del, NM_197957.4:c.*47del, NM_197957.4:c.*47dup, NM_197957.4:c.*46_*47dup, NM_197957.4:c.*45_*47dup, NM_197957.4:c.*44_*47dup, NM_197957.4:c.*43_*47dup, NM_197957.4:c.*40_*47dup, NM_197957.4:c.*39_*47dup, NM_197957.4:c.*38_*47dup, NM_197957.4:c.*37_*47dup, NM_197957.4:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAA, NM_197957.4:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_197957.3:c.*43_*47del, NM_197957.3:c.*44_*47del, NM_197957.3:c.*45_*47del, NM_197957.3:c.*46_*47del, NM_197957.3:c.*47del, NM_197957.3:c.*47dup, NM_197957.3:c.*46_*47dup, NM_197957.3:c.*45_*47dup, NM_197957.3:c.*44_*47dup, NM_197957.3:c.*43_*47dup, NM_197957.3:c.*40_*47dup, NM_197957.3:c.*39_*47dup, NM_197957.3:c.*38_*47dup, NM_197957.3:c.*37_*47dup, NM_197957.3:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAA, NM_197957.3:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001271069.2:c.*43_*47del, NM_001271069.2:c.*44_*47del, NM_001271069.2:c.*45_*47del, NM_001271069.2:c.*46_*47del, NM_001271069.2:c.*47del, NM_001271069.2:c.*47dup, NM_001271069.2:c.*46_*47dup, NM_001271069.2:c.*45_*47dup, NM_001271069.2:c.*44_*47dup, NM_001271069.2:c.*43_*47dup, NM_001271069.2:c.*40_*47dup, NM_001271069.2:c.*39_*47dup, NM_001271069.2:c.*38_*47dup, NM_001271069.2:c.*37_*47dup, NM_001271069.2:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAA, NM_001271069.2:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001271069.1:c.*43_*47del, NM_001271069.1:c.*44_*47del, NM_001271069.1:c.*45_*47del, NM_001271069.1:c.*46_*47del, NM_001271069.1:c.*47del, NM_001271069.1:c.*47dup, NM_001271069.1:c.*46_*47dup, NM_001271069.1:c.*45_*47dup, NM_001271069.1:c.*44_*47dup, NM_001271069.1:c.*43_*47dup, NM_001271069.1:c.*40_*47dup, NM_001271069.1:c.*39_*47dup, NM_001271069.1:c.*38_*47dup, NM_001271069.1:c.*37_*47dup, NM_001271069.1:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAA, NM_001271069.1:c.*47_*48insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

    2.

    rs1491563278 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CG>- [Show Flanks]
      Chromosome:
      14:65031979 (GRCh38)
      14:65498697 (GRCh37)
      Canonical SPDI:
      NC_000014.9:65031978:CG:
      Gene:
      FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
      Functional Consequence:
      intron_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.00001/1 (GnomAD)
      HGVS:

      3.

      rs1491512483 has merged into rs1195336782 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        T>-,TT,TTT [Show Flanks]
        Chromosome:
        14:65020438 (GRCh38)
        14:65487156 (GRCh37)
        Canonical SPDI:
        NC_000014.9:65020437:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:65020437:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:65020437:TTTTTTTTTT:TTTTTTTTTTTT
        Gene:
        FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTT=0./0 (ALFA)
        -=0.00018/5 (TOMMO)
        HGVS:

        4.

        rs1491503969 has merged into rs34191835 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
          Chromosome:
          14:65016931 (GRCh38)
          14:65483649 (GRCh37)
          Canonical SPDI:
          NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65016920:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
          Gene:
          FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTTTT=0./0 (ALFA)
          -=0.000019/5 (TOPMED)
          T=0.266773/1336 (1000Genomes)
          HGVS:
          NC_000014.9:g.65016931_65016940del, NC_000014.9:g.65016933_65016940del, NC_000014.9:g.65016937_65016940del, NC_000014.9:g.65016938_65016940del, NC_000014.9:g.65016939_65016940del, NC_000014.9:g.65016940del, NC_000014.9:g.65016940dup, NC_000014.9:g.65016939_65016940dup, NC_000014.9:g.65016938_65016940dup, NC_000014.9:g.65016937_65016940dup, NC_000014.9:g.65016936_65016940dup, NC_000014.9:g.65016935_65016940dup, NC_000014.9:g.65016934_65016940dup, NC_000014.9:g.65016933_65016940dup, NC_000014.9:g.65016931_65016940dup, NC_000014.8:g.65483649_65483658del, NC_000014.8:g.65483651_65483658del, NC_000014.8:g.65483655_65483658del, NC_000014.8:g.65483656_65483658del, NC_000014.8:g.65483657_65483658del, NC_000014.8:g.65483658del, NC_000014.8:g.65483658dup, NC_000014.8:g.65483657_65483658dup, NC_000014.8:g.65483656_65483658dup, NC_000014.8:g.65483655_65483658dup, NC_000014.8:g.65483654_65483658dup, NC_000014.8:g.65483653_65483658dup, NC_000014.8:g.65483652_65483658dup, NC_000014.8:g.65483651_65483658dup, NC_000014.8:g.65483649_65483658dup, NG_029830.1:g.90580_90589del, NG_029830.1:g.90582_90589del, NG_029830.1:g.90586_90589del, NG_029830.1:g.90587_90589del, NG_029830.1:g.90588_90589del, NG_029830.1:g.90589del, NG_029830.1:g.90589dup, NG_029830.1:g.90588_90589dup, NG_029830.1:g.90587_90589dup, NG_029830.1:g.90586_90589dup, NG_029830.1:g.90585_90589dup, NG_029830.1:g.90584_90589dup, NG_029830.1:g.90583_90589dup, NG_029830.1:g.90582_90589dup, NG_029830.1:g.90580_90589dup

          5.

          rs1491472200 has merged into rs888923691 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            14:65015421 (GRCh38)
            14:65482139 (GRCh37)
            Canonical SPDI:
            NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65015410:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTT=0./0 (ALFA)
            -=0.000019/5 (TOPMED)
            HGVS:
            NC_000014.9:g.65015421_65015434del, NC_000014.9:g.65015423_65015434del, NC_000014.9:g.65015424_65015434del, NC_000014.9:g.65015425_65015434del, NC_000014.9:g.65015426_65015434del, NC_000014.9:g.65015427_65015434del, NC_000014.9:g.65015428_65015434del, NC_000014.9:g.65015429_65015434del, NC_000014.9:g.65015430_65015434del, NC_000014.9:g.65015431_65015434del, NC_000014.9:g.65015432_65015434del, NC_000014.9:g.65015433_65015434del, NC_000014.9:g.65015434del, NC_000014.9:g.65015434dup, NC_000014.9:g.65015433_65015434dup, NC_000014.9:g.65015432_65015434dup, NC_000014.9:g.65015431_65015434dup, NC_000014.9:g.65015428_65015434dup, NC_000014.9:g.65015427_65015434dup, NC_000014.9:g.65015426_65015434dup, NC_000014.9:g.65015425_65015434dup, NC_000014.9:g.65015424_65015434dup, NC_000014.9:g.65015416_65015434dup, NC_000014.9:g.65015434_65015435insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65015434_65015435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65015434_65015435insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65482139_65482152del, NC_000014.8:g.65482141_65482152del, NC_000014.8:g.65482142_65482152del, NC_000014.8:g.65482143_65482152del, NC_000014.8:g.65482144_65482152del, NC_000014.8:g.65482145_65482152del, NC_000014.8:g.65482146_65482152del, NC_000014.8:g.65482147_65482152del, NC_000014.8:g.65482148_65482152del, NC_000014.8:g.65482149_65482152del, NC_000014.8:g.65482150_65482152del, NC_000014.8:g.65482151_65482152del, NC_000014.8:g.65482152del, NC_000014.8:g.65482152dup, NC_000014.8:g.65482151_65482152dup, NC_000014.8:g.65482150_65482152dup, NC_000014.8:g.65482149_65482152dup, NC_000014.8:g.65482146_65482152dup, NC_000014.8:g.65482145_65482152dup, NC_000014.8:g.65482144_65482152dup, NC_000014.8:g.65482143_65482152dup, NC_000014.8:g.65482142_65482152dup, NC_000014.8:g.65482134_65482152dup, NC_000014.8:g.65482152_65482153insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65482152_65482153insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65482152_65482153insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029830.1:g.92086_92099del, NG_029830.1:g.92088_92099del, NG_029830.1:g.92089_92099del, NG_029830.1:g.92090_92099del, NG_029830.1:g.92091_92099del, NG_029830.1:g.92092_92099del, NG_029830.1:g.92093_92099del, NG_029830.1:g.92094_92099del, NG_029830.1:g.92095_92099del, NG_029830.1:g.92096_92099del, NG_029830.1:g.92097_92099del, NG_029830.1:g.92098_92099del, NG_029830.1:g.92099del, NG_029830.1:g.92099dup, NG_029830.1:g.92098_92099dup, NG_029830.1:g.92097_92099dup, NG_029830.1:g.92096_92099dup, NG_029830.1:g.92093_92099dup, NG_029830.1:g.92092_92099dup, NG_029830.1:g.92091_92099dup, NG_029830.1:g.92090_92099dup, NG_029830.1:g.92089_92099dup, NG_029830.1:g.92081_92099dup, NG_029830.1:g.92099_92100insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.92099_92100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.92099_92100insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

            6.

            rs1491454001 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->GT [Show Flanks]
              Chromosome:
              14:65016921 (GRCh38)
              14:65483640 (GRCh37)
              Canonical SPDI:
              NC_000014.9:65016921:T:TGT
              Gene:
              FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
              Functional Consequence:
              intron_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TGT=0.0011/13 (ALFA)
              TG=0.00416/168 (GnomAD)
              HGVS:

              7.

              rs1491427586 has merged into rs745749509 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                Chromosome:
                14:65103951 (GRCh38)
                14:65570669 (GRCh37)
                Canonical SPDI:
                NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:65103940:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                Gene:
                MAX (Varview)
                Functional Consequence:
                2KB_upstream_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTTTTTTTT=0./0 (ALFA)
                HGVS:
                NC_000014.9:g.65103951_65103961del, NC_000014.9:g.65103952_65103961del, NC_000014.9:g.65103953_65103961del, NC_000014.9:g.65103954_65103961del, NC_000014.9:g.65103955_65103961del, NC_000014.9:g.65103956_65103961del, NC_000014.9:g.65103957_65103961del, NC_000014.9:g.65103958_65103961del, NC_000014.9:g.65103959_65103961del, NC_000014.9:g.65103960_65103961del, NC_000014.9:g.65103961del, NC_000014.9:g.65103961dup, NC_000014.9:g.65103960_65103961dup, NC_000014.9:g.65103959_65103961dup, NC_000014.9:g.65103958_65103961dup, NC_000014.9:g.65103957_65103961dup, NC_000014.9:g.65103956_65103961dup, NC_000014.9:g.65103955_65103961dup, NC_000014.9:g.65103954_65103961dup, NC_000014.9:g.65103953_65103961dup, NC_000014.9:g.65103952_65103961dup, NC_000014.9:g.65103951_65103961dup, NC_000014.9:g.65103950_65103961dup, NC_000014.9:g.65103949_65103961dup, NC_000014.9:g.65103946_65103961dup, NC_000014.9:g.65103941_65103961dup, NC_000014.9:g.65103961_65103962insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65103961_65103962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65103961_65103962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.65103961_65103962insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65570669_65570679del, NC_000014.8:g.65570670_65570679del, NC_000014.8:g.65570671_65570679del, NC_000014.8:g.65570672_65570679del, NC_000014.8:g.65570673_65570679del, NC_000014.8:g.65570674_65570679del, NC_000014.8:g.65570675_65570679del, NC_000014.8:g.65570676_65570679del, NC_000014.8:g.65570677_65570679del, NC_000014.8:g.65570678_65570679del, NC_000014.8:g.65570679del, NC_000014.8:g.65570679dup, NC_000014.8:g.65570678_65570679dup, NC_000014.8:g.65570677_65570679dup, NC_000014.8:g.65570676_65570679dup, NC_000014.8:g.65570675_65570679dup, NC_000014.8:g.65570674_65570679dup, NC_000014.8:g.65570673_65570679dup, NC_000014.8:g.65570672_65570679dup, NC_000014.8:g.65570671_65570679dup, NC_000014.8:g.65570670_65570679dup, NC_000014.8:g.65570669_65570679dup, NC_000014.8:g.65570668_65570679dup, NC_000014.8:g.65570667_65570679dup, NC_000014.8:g.65570664_65570679dup, NC_000014.8:g.65570659_65570679dup, NC_000014.8:g.65570679_65570680insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65570679_65570680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65570679_65570680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.65570679_65570680insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029830.1:g.3559_3569del, NG_029830.1:g.3560_3569del, NG_029830.1:g.3561_3569del, NG_029830.1:g.3562_3569del, NG_029830.1:g.3563_3569del, NG_029830.1:g.3564_3569del, NG_029830.1:g.3565_3569del, NG_029830.1:g.3566_3569del, NG_029830.1:g.3567_3569del, NG_029830.1:g.3568_3569del, NG_029830.1:g.3569del, NG_029830.1:g.3569dup, NG_029830.1:g.3568_3569dup, NG_029830.1:g.3567_3569dup, NG_029830.1:g.3566_3569dup, NG_029830.1:g.3565_3569dup, NG_029830.1:g.3564_3569dup, NG_029830.1:g.3563_3569dup, NG_029830.1:g.3562_3569dup, NG_029830.1:g.3561_3569dup, NG_029830.1:g.3560_3569dup, NG_029830.1:g.3559_3569dup, NG_029830.1:g.3558_3569dup, NG_029830.1:g.3557_3569dup, NG_029830.1:g.3554_3569dup, NG_029830.1:g.3549_3569dup, NG_029830.1:g.3569_3570insAAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.3569_3570insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.3569_3570insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029830.1:g.3569_3570insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

                8.

                rs1491412942 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AT>- [Show Flanks]
                  Chromosome:
                  14:65071146 (GRCh38)
                  14:65537864 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:65071145:AT:
                  Gene:
                  MAX (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0./0 (ALFA)
                  -=0.000079/11 (GnomAD)
                  HGVS:

                  9.

                  rs1491412458 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->A [Show Flanks]
                    Chromosome:
                    14:65102438 (GRCh38)
                    14:65569157 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:65102438:A:AA
                    Gene:
                    MAX (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    AA=0./0 (ALFA)
                    A=0.000015/4 (TOPMED)
                    HGVS:
                    NC_000014.9:g.65102439dup, NC_000014.8:g.65569157dup, NG_029830.1:g.5071dup, NM_002382.5:c.-100dup, NM_002382.4:c.-100dup, NM_197957.4:c.-100dup, NM_197957.3:c.-100dup, NM_145113.3:c.-100dup, NM_145113.2:c.-100dup, NM_145112.3:c.-100dup, NM_145112.2:c.-100dup, NM_145114.3:c.-100dup, NM_145114.2:c.-100dup, NM_001320415.2:c.-374dup, NM_001320415.1:c.-374dup, NM_001271068.2:c.-100dup, NM_001271068.1:c.-100dup, NM_001271069.2:c.-100dup, NM_001271069.1:c.-100dup, NM_001407097.1:c.-100dup, NM_001407096.1:c.-100dup, NM_001407100.1:c.-100dup, NM_001407099.1:c.-100dup, NM_001407109.1:c.-100dup, NM_001407108.1:c.-100dup, NM_001407098.1:c.-100dup, XR_943450.4:n.79dup, XR_943452.4:n.79dup, XM_011536773.4:c.-100dup, XM_011536773.3:c.-100dup, XM_011536773.2:c.-100dup, XM_011536773.1:c.-100dup, XR_007064012.1:n.79dup, NM_145116.1:c.-100dup

                    10.

                    rs1491384761 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      TA>- [Show Flanks]
                      Chromosome:
                      14:65086060 (GRCh38)
                      14:65552778 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:65086059:TA:
                      Gene:
                      MAX (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1491355064 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->GTTT [Show Flanks]
                        Chromosome:
                        14:65058220 (GRCh38)
                        14:65524939 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:65058220:TGTTT:TGTTTGTTT
                        Gene:
                        FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                        Functional Consequence:
                        intron_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TGTTTGTTT=0./0 (ALFA)
                        TGTT=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1491319251 [Homo sapiens]
                          Variant type:
                          INS
                          Alleles:
                          ->A,C,T [Show Flanks]
                          Chromosome:
                          14:65102731 (GRCh38)
                          14:65569450 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:65102731::A,NC_000014.9:65102731::C,NC_000014.9:65102731::T
                          Gene:
                          MAX (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          T=0.00071/10 (TOMMO)
                          T=0.00479/7 (Korea1K)
                          HGVS:

                          13.

                          rs1491301096 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->ATGTGTGT [Show Flanks]
                            Chromosome:
                            14:65031980 (GRCh38)
                            14:65498699 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:65031980:TGTGTGT:TGTGTGTATGTGTGT
                            Gene:
                            FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGTGTGTATGTGTGT=0./0 (ALFA)
                            TGTGTGTA=0.000008/2 (TOPMED)
                            HGVS:

                            14.

                            rs1491272438 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->ACGT,AT [Show Flanks]
                              Chromosome:
                              14:65031979 (GRCh38)
                              14:65498698 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:65031979::ACGT,NC_000014.9:65031979::AT
                              Gene:
                              FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              AT=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491265324 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                CT>- [Show Flanks]
                                Chromosome:
                                14:65040247 (GRCh38)
                                14:65506965 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:65040246:CT:
                                Gene:
                                FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                -=0.000015/2 (GnomAD)
                                -=0.000312/2 (1000Genomes)
                                HGVS:

                                16.

                                rs1491192568 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  CA>- [Show Flanks]
                                  Chromosome:
                                  14:65060870 (GRCh38)
                                  14:65527588 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:65060869:CA:
                                  Gene:
                                  FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.00025/3 (ALFA)
                                  -=0.00053/9 (TOMMO)
                                  -=0.00057/1 (Korea1K)
                                  HGVS:

                                  17.

                                  rs1491149653 has merged into rs1215506760 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GGGGGGGGGGG>-,GGG,GGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
                                    Chromosome:
                                    14:65102732 (GRCh38)
                                    14:65569450 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:65102730:GGGGGGGGGGGG:G,NC_000014.9:65102730:GGGGGGGGGGGG:GGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000014.9:65102730:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
                                    Gene:
                                    MAX (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000014.9:g.65102732_65102742del, NC_000014.9:g.65102735_65102742del, NC_000014.9:g.65102737_65102742del, NC_000014.9:g.65102740_65102742del, NC_000014.9:g.65102741_65102742del, NC_000014.9:g.65102742del, NC_000014.9:g.65102742dup, NC_000014.9:g.65102741_65102742dup, NC_000014.9:g.65102740_65102742dup, NC_000014.9:g.65102739_65102742dup, NC_000014.9:g.65102738_65102742dup, NC_000014.9:g.65102737_65102742dup, NC_000014.9:g.65102736_65102742dup, NC_000014.9:g.65102735_65102742dup, NC_000014.9:g.65102734_65102742dup, NC_000014.9:g.65102732_65102742dup, NC_000014.9:g.65102731_65102742dup, NC_000014.9:g.65102742_65102743insGGGGGGGGGGGGG, NC_000014.9:g.65102742_65102743insGGGGGGGGGGGGGGGGGG, NC_000014.9:g.65102742_65102743insGGGGGGGGGGGGGGGGGGG, NC_000014.9:g.65102742_65102743insGGGGGGGGGGGGGGGGGGGGGG, NC_000014.8:g.65569450_65569460del, NC_000014.8:g.65569453_65569460del, NC_000014.8:g.65569455_65569460del, NC_000014.8:g.65569458_65569460del, NC_000014.8:g.65569459_65569460del, NC_000014.8:g.65569460del, NC_000014.8:g.65569460dup, NC_000014.8:g.65569459_65569460dup, NC_000014.8:g.65569458_65569460dup, NC_000014.8:g.65569457_65569460dup, NC_000014.8:g.65569456_65569460dup, NC_000014.8:g.65569455_65569460dup, NC_000014.8:g.65569454_65569460dup, NC_000014.8:g.65569453_65569460dup, NC_000014.8:g.65569452_65569460dup, NC_000014.8:g.65569450_65569460dup, NC_000014.8:g.65569449_65569460dup, NC_000014.8:g.65569460_65569461insGGGGGGGGGGGGG, NC_000014.8:g.65569460_65569461insGGGGGGGGGGGGGGGGGG, NC_000014.8:g.65569460_65569461insGGGGGGGGGGGGGGGGGGG, NC_000014.8:g.65569460_65569461insGGGGGGGGGGGGGGGGGGGGGG, NG_029830.1:g.4769_4779del, NG_029830.1:g.4772_4779del, NG_029830.1:g.4774_4779del, NG_029830.1:g.4777_4779del, NG_029830.1:g.4778_4779del, NG_029830.1:g.4779del, NG_029830.1:g.4779dup, NG_029830.1:g.4778_4779dup, NG_029830.1:g.4777_4779dup, NG_029830.1:g.4776_4779dup, NG_029830.1:g.4775_4779dup, NG_029830.1:g.4774_4779dup, NG_029830.1:g.4773_4779dup, NG_029830.1:g.4772_4779dup, NG_029830.1:g.4771_4779dup, NG_029830.1:g.4769_4779dup, NG_029830.1:g.4768_4779dup, NG_029830.1:g.4779_4780insCCCCCCCCCCCCC, NG_029830.1:g.4779_4780insCCCCCCCCCCCCCCCCCC, NG_029830.1:g.4779_4780insCCCCCCCCCCCCCCCCCCC, NG_029830.1:g.4779_4780insCCCCCCCCCCCCCCCCCCCCCC

                                    18.

                                    rs1491146043 [Homo sapiens]
                                      Variant type:
                                      INS
                                      Alleles:
                                      ->C [Show Flanks]
                                      Chromosome:
                                      14:65103941 (GRCh38)
                                      14:65570660 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:65103941::C
                                      Gene:
                                      MAX (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.00008/1 (ALFA)
                                      HGVS:

                                      19.

                                      rs1491090111 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CT>- [Show Flanks]
                                        Chromosome:
                                        14:65059333 (GRCh38)
                                        14:65526051 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:65059332:CT:
                                        Gene:
                                        FNTB (Varview), MAX (Varview), CHURC1-FNTB (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0./0 (ALSPAC)
                                        -=0.000008/2 (TOPMED)
                                        -=0.00027/1 (TWINSUK)
                                        HGVS:

                                        20.

                                        rs1491088180 has merged into rs111423249 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                                          Chromosome:
                                          14:65067197 (GRCh38)
                                          14:65533915 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:65067184:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                                          Gene:
                                          MAX (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAAAAAAAAA=0.00015/2 (ALFA)
                                          AA=0.125/5 (GENOME_DK)
                                          HGVS:

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