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Items: 1 to 20 of 21207

1.

rs1491516571 has merged into rs58966846 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    11:94042889 (GRCh38)
    11:93776055 (GRCh37)
    Canonical SPDI:
    NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94042875:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    HEPHL1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAAAAAA=0./0 (ALFA)
    AAAAAAAAAAA=0.2/8 (GENOME_DK)
    HGVS:
    NC_000011.10:g.94042889_94042893del, NC_000011.10:g.94042890_94042893del, NC_000011.10:g.94042891_94042893del, NC_000011.10:g.94042892_94042893del, NC_000011.10:g.94042893del, NC_000011.10:g.94042893dup, NC_000011.10:g.94042892_94042893dup, NC_000011.10:g.94042891_94042893dup, NC_000011.10:g.94042890_94042893dup, NC_000011.10:g.94042889_94042893dup, NC_000011.10:g.94042888_94042893dup, NC_000011.10:g.94042887_94042893dup, NC_000011.10:g.94042886_94042893dup, NC_000011.10:g.94042885_94042893dup, NC_000011.10:g.94042884_94042893dup, NC_000011.10:g.94042883_94042893dup, NC_000011.10:g.94042882_94042893dup, NC_000011.10:g.94042881_94042893dup, NC_000011.10:g.94042880_94042893dup, NC_000011.10:g.94042879_94042893dup, NC_000011.10:g.94042878_94042893dup, NC_000011.10:g.94042877_94042893dup, NC_000011.10:g.94042876_94042893dup, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.10:g.94042893_94042894insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776055_93776059del, NC_000011.9:g.93776056_93776059del, NC_000011.9:g.93776057_93776059del, NC_000011.9:g.93776058_93776059del, NC_000011.9:g.93776059del, NC_000011.9:g.93776059dup, NC_000011.9:g.93776058_93776059dup, NC_000011.9:g.93776057_93776059dup, NC_000011.9:g.93776056_93776059dup, NC_000011.9:g.93776055_93776059dup, NC_000011.9:g.93776054_93776059dup, NC_000011.9:g.93776053_93776059dup, NC_000011.9:g.93776052_93776059dup, NC_000011.9:g.93776051_93776059dup, NC_000011.9:g.93776050_93776059dup, NC_000011.9:g.93776049_93776059dup, NC_000011.9:g.93776048_93776059dup, NC_000011.9:g.93776047_93776059dup, NC_000011.9:g.93776046_93776059dup, NC_000011.9:g.93776045_93776059dup, NC_000011.9:g.93776044_93776059dup, NC_000011.9:g.93776043_93776059dup, NC_000011.9:g.93776042_93776059dup, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000011.9:g.93776059_93776060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

    2.

    rs1491476486 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AA>-,AAAA [Show Flanks]
      Chromosome:
      11:94031371 (GRCh38)
      11:93764537 (GRCh37)
      Canonical SPDI:
      NC_000011.10:94031369:AAA:A,NC_000011.10:94031369:AAA:AAAAA
      Gene:
      HEPHL1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAA=0./0 (ALFA)
      -=0.000008/1 (GnomAD)
      -=0.00493/19 (ALSPAC)
      -=0.00836/31 (TWINSUK)
      HGVS:

      3.

      rs1491395306 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        11:94057928 (GRCh38)
        11:93791094 (GRCh37)
        Canonical SPDI:
        NC_000011.10:94057926:TAT:T
        Gene:
        HEPHL1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        HGVS:

        4.

        rs1491393059 [Homo sapiens]
          Variant type:
          SNV:
          Alleles:
          CT>-
          Chromosome:
          no mapping
          Canonical SPDI:

          5.

          rs1491317110 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->T [Show Flanks]
            Chromosome:
            11:94093972 (GRCh38)
            11:93827139 (GRCh37)
            Canonical SPDI:
            NC_000011.10:94093972:T:TT
            Gene:
            HEPHL1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            TT=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:

            6.

            rs1491280103 [Homo sapiens]
              Variant type:
              SNV:
              Alleles:
              ->CAAAAAAAAAAAA
              Chromosome:
              no mapping
              Canonical SPDI:

              7.

              rs1491263396 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->CTTTTTTTTT
                Chromosome:
                no mapping
                Canonical SPDI:

                8.

                rs1491159651 has merged into rs755367459 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  11:94046101 (GRCh38)
                  11:93779267 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94046091:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  HEPHL1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTT=0./0 (ALFA)
                  -=0.025/1 (GENOME_DK)
                  HGVS:
                  NC_000011.10:g.94046101_94046112del, NC_000011.10:g.94046102_94046112del, NC_000011.10:g.94046104_94046112del, NC_000011.10:g.94046105_94046112del, NC_000011.10:g.94046106_94046112del, NC_000011.10:g.94046107_94046112del, NC_000011.10:g.94046108_94046112del, NC_000011.10:g.94046109_94046112del, NC_000011.10:g.94046110_94046112del, NC_000011.10:g.94046111_94046112del, NC_000011.10:g.94046112del, NC_000011.10:g.94046112dup, NC_000011.10:g.94046111_94046112dup, NC_000011.10:g.94046092_94046112T[23]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.10:g.94046110_94046112dup, NC_000011.10:g.94046109_94046112dup, NC_000011.10:g.94046108_94046112dup, NC_000011.10:g.94046107_94046112dup, NC_000011.10:g.94046106_94046112dup, NC_000011.10:g.94046105_94046112dup, NC_000011.10:g.94046104_94046112dup, NC_000011.10:g.94046103_94046112dup, NC_000011.10:g.94046102_94046112dup, NC_000011.10:g.94046101_94046112dup, NC_000011.10:g.94046100_94046112dup, NC_000011.10:g.94046099_94046112dup, NC_000011.10:g.94046098_94046112dup, NC_000011.10:g.94046097_94046112dup, NC_000011.10:g.94046093_94046112dup, NC_000011.10:g.94046092_94046112dup, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.94046112_94046113insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779267_93779278del, NC_000011.9:g.93779268_93779278del, NC_000011.9:g.93779270_93779278del, NC_000011.9:g.93779271_93779278del, NC_000011.9:g.93779272_93779278del, NC_000011.9:g.93779273_93779278del, NC_000011.9:g.93779274_93779278del, NC_000011.9:g.93779275_93779278del, NC_000011.9:g.93779276_93779278del, NC_000011.9:g.93779277_93779278del, NC_000011.9:g.93779278del, NC_000011.9:g.93779278dup, NC_000011.9:g.93779277_93779278dup, NC_000011.9:g.93779258_93779278T[23]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000011.9:g.93779276_93779278dup, NC_000011.9:g.93779275_93779278dup, NC_000011.9:g.93779274_93779278dup, NC_000011.9:g.93779273_93779278dup, NC_000011.9:g.93779272_93779278dup, NC_000011.9:g.93779271_93779278dup, NC_000011.9:g.93779270_93779278dup, NC_000011.9:g.93779269_93779278dup, NC_000011.9:g.93779268_93779278dup, NC_000011.9:g.93779267_93779278dup, NC_000011.9:g.93779266_93779278dup, NC_000011.9:g.93779265_93779278dup, NC_000011.9:g.93779264_93779278dup, NC_000011.9:g.93779263_93779278dup, NC_000011.9:g.93779259_93779278dup, NC_000011.9:g.93779258_93779278dup, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.93779278_93779279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                  9.

                  rs1491157610 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->GCTATCTATCTA [Show Flanks]
                    Chromosome:
                    11:94056660 (GRCh38)
                    11:93789827 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:94056660:CTATCTATCTA:CTATCTATCTAGCTATCTATCTA
                    Gene:
                    HEPHL1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency
                    MAF:
                    CTATCTATCTAG=0.000009/1 (GnomAD)
                    HGVS:

                    10.

                    rs1491126384 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->CAAAAAACAAACAAAAAAAA [Show Flanks]
                      Chromosome:
                      11:94042881 (GRCh38)
                      11:93776048 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:94042881:AAAAAAAA:AAAAAAAACAAAAAACAAACAAAAAAAA
                      Gene:
                      HEPHL1 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      AAAAAAAACAAAAAACAAACAAAAAAAA=0./0 (ALFA)
                      AAAAAAAACAAAAAACAAAC=0.000063/8 (GnomAD)
                      HGVS:

                      11.

                      rs1491100428 has merged into rs201036709 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                        Chromosome:
                        11:94093981 (GRCh38)
                        11:93827147 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000011.10:94093971:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                        Gene:
                        HEPHL1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        ATATATATATA=0./0 (ALFA)
                        HGVS:
                        NC_000011.10:g.94093973TA[4], NC_000011.10:g.94093973TA[5], NC_000011.10:g.94093973TA[6], NC_000011.10:g.94093973TA[7], NC_000011.10:g.94093973TA[8], NC_000011.10:g.94093973TA[9], NC_000011.10:g.94093973TA[10], NC_000011.10:g.94093973TA[11], NC_000011.10:g.94093973TA[12], NC_000011.10:g.94093973TA[13], NC_000011.10:g.94093973TA[14], NC_000011.10:g.94093973TA[15], NC_000011.10:g.94093973TA[16], NC_000011.10:g.94093973TA[17], NC_000011.10:g.94093973TA[18], NC_000011.10:g.94093973TA[19], NC_000011.10:g.94093973TA[20], NC_000011.10:g.94093973TA[22], NC_000011.10:g.94093973TA[23], NC_000011.10:g.94093973TA[24], NC_000011.10:g.94093973TA[25], NC_000011.10:g.94093973TA[26], NC_000011.10:g.94093973TA[27], NC_000011.10:g.94093973TA[28], NC_000011.10:g.94093973TA[29], NC_000011.10:g.94093973TA[30], NC_000011.10:g.94093973TA[31], NC_000011.10:g.94093973TA[32], NC_000011.10:g.94093973TA[33], NC_000011.10:g.94093973TA[34], NC_000011.10:g.94093973TA[35], NC_000011.10:g.94093973TA[36], NC_000011.10:g.94093973TA[37], NC_000011.9:g.93827139TA[4], NC_000011.9:g.93827139TA[5], NC_000011.9:g.93827139TA[6], NC_000011.9:g.93827139TA[7], NC_000011.9:g.93827139TA[8], NC_000011.9:g.93827139TA[9], NC_000011.9:g.93827139TA[10], NC_000011.9:g.93827139TA[11], NC_000011.9:g.93827139TA[12], NC_000011.9:g.93827139TA[13], NC_000011.9:g.93827139TA[14], NC_000011.9:g.93827139TA[15], NC_000011.9:g.93827139TA[16], NC_000011.9:g.93827139TA[17], NC_000011.9:g.93827139TA[18], NC_000011.9:g.93827139TA[19], NC_000011.9:g.93827139TA[20], NC_000011.9:g.93827139TA[22], NC_000011.9:g.93827139TA[23], NC_000011.9:g.93827139TA[24], NC_000011.9:g.93827139TA[25], NC_000011.9:g.93827139TA[26], NC_000011.9:g.93827139TA[27], NC_000011.9:g.93827139TA[28], NC_000011.9:g.93827139TA[29], NC_000011.9:g.93827139TA[30], NC_000011.9:g.93827139TA[31], NC_000011.9:g.93827139TA[32], NC_000011.9:g.93827139TA[33], NC_000011.9:g.93827139TA[34], NC_000011.9:g.93827139TA[35], NC_000011.9:g.93827139TA[36], NC_000011.9:g.93827139TA[37]

                        12.

                        rs1491098447 has merged into rs3995730 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
                          Chromosome:
                          11:94049633 (GRCh38)
                          11:93782799 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          HEPHL1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAAAAAA=0./0 (ALFA)
                          AA=0.1502/752 (1000Genomes)
                          HGVS:

                          13.

                          rs1491072057 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            11:94046090 (GRCh38)
                            11:93779257 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:94046090:CTTTTTTTTTT:CTTTTTTTTTTCTTTTTTTTTT
                            Gene:
                            HEPHL1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            CTTTTTTTTTTCTTTTTTTTTT=0.00124/20 (ALFA)
                            CTTTTTTTTTT=0.00203/13 (1000Genomes)
                            CTTTTTTTTTT=0.03439/225 (GnomAD)
                            HGVS:

                            14.

                            rs1491064172 has merged into rs11315401 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              11:94106307 (GRCh38)
                              11:93839473 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:94106293:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              HEPHL1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTTTT=0./0 (ALFA)
                              HGVS:

                              15.

                              rs1491022757 has merged into rs35037205 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
                                Chromosome:
                                11:94083099 (GRCh38)
                                11:93816265 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:94083083:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:94083083:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:94083083:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:94083083:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:94083083:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                Gene:
                                HEPHL1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                AAAAAAAAAAAAAAAA=0./0 (ALFA)
                                A=0.4499/2253 (1000Genomes)
                                HGVS:

                                16.

                                rs1490995321 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  11:94066131 (GRCh38)
                                  11:93799297 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:94066130:G:A,NC_000011.10:94066130:G:T
                                  Gene:
                                  HEPHL1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490992467 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    11:94098856 (GRCh38)
                                    11:93832022 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:94098855:A:T
                                    Gene:
                                    HEPHL1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000008/2 (TOPMED)
                                    T=0.000014/2 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490980470 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>A,G [Show Flanks]
                                      Chromosome:
                                      11:94063258 (GRCh38)
                                      11:93796424 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:94063257:C:A,NC_000011.10:94063257:C:G
                                      Gene:
                                      HEPHL1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      G=0.000035/1 (TOMMO)
                                      HGVS:

                                      19.

                                      rs1490942083 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        11:94102486 (GRCh38)
                                        11:93835652 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:94102485:C:G
                                        Gene:
                                        HEPHL1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        G=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490925576 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:94057241 (GRCh38)
                                          11:93790407 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:94057240:C:T
                                          Gene:
                                          HEPHL1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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