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1.

rs1491509044 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->A,AA,AATTTTA,ATA [Show Flanks]
    Chromosome:
    3:180677166 (GRCh38)
    3:180394955 (GRCh37)
    Canonical SPDI:
    NC_000003.12:180677166::A,NC_000003.12:180677166::AA,NC_000003.12:180677166::AATTTTA,NC_000003.12:180677166::ATA
    Gene:
    CCDC39 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AA=0./0 (ALFA)
    AA=0.00171/1 (NorthernSweden)
    AA=0.03251/543 (TOMMO)
    HGVS:

    2.

    rs1491490351 has merged into rs573623299 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTT,TTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      3:180670649 (GRCh38)
      3:180388437 (GRCh37)
      Canonical SPDI:
      NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTGTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:180670639:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      CCDC39 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      T=0.2/8 (GENOME_DK)
      T=0.240216/1203 (1000Genomes)
      HGVS:
      NC_000003.12:g.180670649_180670655del, NC_000003.12:g.180670650_180670655del, NC_000003.12:g.180670652_180670655del, NC_000003.12:g.180670653_180670655del, NC_000003.12:g.180670654_180670655del, NC_000003.12:g.180670655del, NC_000003.12:g.180670655dup, NC_000003.12:g.180670640_180670655T[17]CTTT[2]T[25], NC_000003.12:g.180670640_180670655T[17]CTTTTTTTT[2]T[11], NC_000003.12:g.180670640_180670655T[17]CTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[17]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[17]GTTTTTTTTTCTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[17]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670654_180670655dup, NC_000003.12:g.180670640_180670655T[18]CTTT[2]T[25], NC_000003.12:g.180670640_180670655T[18]CTTTTTTTT[2]T[9], NC_000003.12:g.180670640_180670655T[18]CTTTTTTTT[2]T[11], NC_000003.12:g.180670640_180670655T[18]CTTTTTTTT[2]T[19], NC_000003.12:g.180670640_180670655T[18]CTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670653_180670655dup, NC_000003.12:g.180670652_180670655dup, NC_000003.12:g.180670640_180670655T[21]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[22]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670647_180670655dup, NC_000003.12:g.180670646_180670655dup, NC_000003.12:g.180670640_180670655T[26]CTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[26]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[26]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670645_180670655dup, NC_000003.12:g.180670640_180670655T[27]CTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[27]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670640_180670655T[27]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670644_180670655dup, NC_000003.12:g.180670640_180670655T[28]CTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670643_180670655dup, NC_000003.12:g.180670640_180670655T[34]CTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670640_180670655T[36]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.180670655_180670656insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388437_180388443del, NC_000003.11:g.180388438_180388443del, NC_000003.11:g.180388440_180388443del, NC_000003.11:g.180388441_180388443del, NC_000003.11:g.180388442_180388443del, NC_000003.11:g.180388443del, NC_000003.11:g.180388443dup, NC_000003.11:g.180388428_180388443T[17]CTTT[2]T[25], NC_000003.11:g.180388428_180388443T[17]CTTTTTTTT[2]T[11], NC_000003.11:g.180388428_180388443T[17]CTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[17]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[17]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[17]GTTTTTTTTTCTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[17]GTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388442_180388443dup, NC_000003.11:g.180388428_180388443T[18]CTTT[2]T[25], NC_000003.11:g.180388428_180388443T[18]CTTTTTTTT[2]T[9], NC_000003.11:g.180388428_180388443T[18]CTTTTTTTT[2]T[11], NC_000003.11:g.180388428_180388443T[18]CTTTTTTTT[2]T[19], NC_000003.11:g.180388428_180388443T[18]CTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[18]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388441_180388443dup, NC_000003.11:g.180388440_180388443dup, NC_000003.11:g.180388428_180388443T[21]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[22]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[22]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[22]CTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388435_180388443dup, NC_000003.11:g.180388434_180388443dup, NC_000003.11:g.180388428_180388443T[26]CTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[26]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[26]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388433_180388443dup, NC_000003.11:g.180388428_180388443T[27]CTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[27]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388428_180388443T[27]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388432_180388443dup, NC_000003.11:g.180388428_180388443T[28]CTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388431_180388443dup, NC_000003.11:g.180388428_180388443T[34]CTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388428_180388443T[36]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.180388443_180388444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029581.1:g.13850_13856del, NG_029581.1:g.13851_13856del, NG_029581.1:g.13853_13856del, NG_029581.1:g.13854_13856del, NG_029581.1:g.13855_13856del, NG_029581.1:g.13856del, NG_029581.1:g.13856dup, NG_029581.1:g.13841_13856A[28]GAAA[2]A[14], NG_029581.1:g.13841_13856A[19]GAAAAAAAA[2]A[9], NG_029581.1:g.13841_13856A[17]GAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[29]GAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[18]GAAAAAAAAACAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[19]GAAAAAAAAACAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13855_13856dup, NG_029581.1:g.13841_13856A[28]GAAA[2]A[15], NG_029581.1:g.13841_13856A[17]GAAAAAAAA[2]A[10], NG_029581.1:g.13841_13856A[19]GAAAAAAAA[2]A[10], NG_029581.1:g.13841_13856A[27]GAAAAAAAA[2]A[10], NG_029581.1:g.13841_13856A[17]GAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[19]GAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13854_13856dup, NG_029581.1:g.13853_13856dup, NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[19]GAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[28]GAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13848_13856dup, NG_029581.1:g.13847_13856dup, NG_029581.1:g.13841_13856A[17]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[19]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13846_13856dup, NG_029581.1:g.13841_13856A[17]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13841_13856A[19]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13845_13856dup, NG_029581.1:g.13841_13856A[20]GAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13844_13856dup, NG_029581.1:g.13841_13856A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13841_13856A[19]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_029581.1:g.13856_13857insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

      3.

      rs1491257765 has merged into rs1246281842 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTT>-,T,TT,TTTTT,TTTTTTT [Show Flanks]
        Chromosome:
        3:180677167 (GRCh38)
        3:180394955 (GRCh37)
        Canonical SPDI:
        NC_000003.12:180677165:TTTT:T,NC_000003.12:180677165:TTTT:TT,NC_000003.12:180677165:TTTT:TTT,NC_000003.12:180677165:TTTT:TTTTTT,NC_000003.12:180677165:TTTT:TTTTTTTT
        Gene:
        CCDC39 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.0006/10 (TOMMO)
        HGVS:

        4.

        rs1491217324 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->C [Show Flanks]
          Chromosome:
          3:180670640 (GRCh38)
          3:180388429 (GRCh37)
          Canonical SPDI:
          NC_000003.12:180670640::C
          Gene:
          CCDC39 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0./0 (ALFA)
          C=0.00007/5 (GnomAD)
          HGVS:

          5.

          rs1491117816 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            3:180671210 (GRCh38)
            3:180388998 (GRCh37)
            Canonical SPDI:
            NC_000003.12:180671209:CA:
            Gene:
            CCDC39 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0.00008/1 (ALFA)
            HGVS:

            6.

            rs1491021554 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              TG>- [Show Flanks]
              Chromosome:
              3:180670655 (GRCh38)
              3:180388443 (GRCh37)
              Canonical SPDI:
              NC_000003.12:180670654:TG:
              Gene:
              CCDC39 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.000036/5 (GnomAD)
              HGVS:

              7.

              rs1490914264 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                3:180675250 (GRCh38)
                3:180393038 (GRCh37)
                Canonical SPDI:
                NC_000003.12:180675249:T:C
                Gene:
                CCDC39 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000008/2 (TOPMED)
                C=0.000014/2 (GnomAD)
                HGVS:

                8.

                rs1490911040 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>A,C [Show Flanks]
                  Chromosome:
                  3:180654094 (GRCh38)
                  3:180371882 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:180654093:T:A,NC_000003.12:180654093:T:C
                  Gene:
                  CCDC39 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  A=0.000106/3 (TOMMO)
                  C=0.000546/1 (Korea1K)
                  HGVS:

                  9.

                  rs1490803240 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:180646344 (GRCh38)
                    3:180364132 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:180646343:T:C
                    Gene:
                    CCDC39 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0.000071/1 (ALFA)
                    C=0.000008/2 (TOPMED)
                    HGVS:

                    10.

                    rs1490778081 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      3:180647631 (GRCh38)
                      3:180365419 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:180647630:C:
                      Gene:
                      CCDC39 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000007/1 (GnomAD)
                      -=0.000015/4 (TOPMED)
                      HGVS:

                      11.

                      rs1490664055 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        3:180678338 (GRCh38)
                        3:180396126 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:180678337:A:T
                        Gene:
                        CCDC39 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490630561 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          3:180623027 (GRCh38)
                          3:180340815 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:180623026:T:G
                          Gene:
                          CCDC39 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:

                          13.

                          rs1490587251 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            3:180617740 (GRCh38)
                            3:180335528 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:180617739:A:C
                            Gene:
                            TTC14 (Varview), CCDC39 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000007/1 (GnomAD)
                            HGVS:

                            14.

                            rs1490573116 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              3:180677283 (GRCh38)
                              3:180395071 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:180677282:C:G
                              Gene:
                              CCDC39 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1490550023 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                3:180656432 (GRCh38)
                                3:180374220 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:180656431:T:C
                                Gene:
                                CCDC39 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0.000071/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1490491596 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>C [Show Flanks]
                                  Chromosome:
                                  3:180615341 (GRCh38)
                                  3:180333129 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:180615340:A:C
                                  Gene:
                                  TTC14 (Varview), CCDC39 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1490476032 has merged into rs67323828 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                                    Chromosome:
                                    3:180671223 (GRCh38)
                                    3:180389011 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:180671210:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
                                    Gene:
                                    CCDC39 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AAAAAAAAAAAAA=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000003.12:g.180671223_180671232del, NC_000003.12:g.180671224_180671232del, NC_000003.12:g.180671225_180671232del, NC_000003.12:g.180671226_180671232del, NC_000003.12:g.180671227_180671232del, NC_000003.12:g.180671228_180671232del, NC_000003.12:g.180671229_180671232del, NC_000003.12:g.180671230_180671232del, NC_000003.12:g.180671231_180671232del, NC_000003.12:g.180671232del, NC_000003.12:g.180671232dup, NC_000003.12:g.180671231_180671232dup, NC_000003.12:g.180671230_180671232dup, NC_000003.12:g.180671228_180671232dup, NC_000003.11:g.180389011_180389020del, NC_000003.11:g.180389012_180389020del, NC_000003.11:g.180389013_180389020del, NC_000003.11:g.180389014_180389020del, NC_000003.11:g.180389015_180389020del, NC_000003.11:g.180389016_180389020del, NC_000003.11:g.180389017_180389020del, NC_000003.11:g.180389018_180389020del, NC_000003.11:g.180389019_180389020del, NC_000003.11:g.180389020del, NC_000003.11:g.180389020dup, NC_000003.11:g.180389019_180389020dup, NC_000003.11:g.180389018_180389020dup, NC_000003.11:g.180389016_180389020dup, NG_029581.1:g.13276_13285del, NG_029581.1:g.13277_13285del, NG_029581.1:g.13278_13285del, NG_029581.1:g.13279_13285del, NG_029581.1:g.13280_13285del, NG_029581.1:g.13281_13285del, NG_029581.1:g.13282_13285del, NG_029581.1:g.13283_13285del, NG_029581.1:g.13284_13285del, NG_029581.1:g.13285del, NG_029581.1:g.13285dup, NG_029581.1:g.13284_13285dup, NG_029581.1:g.13283_13285dup, NG_029581.1:g.13281_13285dup

                                    18.

                                    rs1490459406 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:180672314 (GRCh38)
                                      3:180390102 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:180672313:C:T
                                      Gene:
                                      CCDC39 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490422769 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        3:180674386 (GRCh38)
                                        3:180392174 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:180674385:G:A,NC_000003.12:180674385:G:T
                                        Gene:
                                        CCDC39 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        A=0.000014/2 (GnomAD)
                                        A=0.004791/14 (KOREAN)
                                        HGVS:

                                        20.

                                        rs1490409293 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          3:180638734 (GRCh38)
                                          3:180356522 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:180638733:A:G
                                          Gene:
                                          CCDC39 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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