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1.

rs1491500882 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->G [Show Flanks]
    Chromosome:
    16:57282240 (GRCh38)
    16:57316153 (GRCh37)
    Canonical SPDI:
    NC_000016.10:57282240::G
    Gene:
    PLLP (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000029/4 (GnomAD)
    HGVS:

    2.

    rs1491498728 has merged into rs60029615 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CACACACACACACACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
      Chromosome:
      16:57275104 (GRCh38)
      16:57309016 (GRCh37)
      Canonical SPDI:
      NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000016.10:57275093:CACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA
      Gene:
      PLLP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CACACACACA=0./0 (ALFA)
      -=0.45641/1759 (ALSPAC)
      HGVS:
      NC_000016.10:g.57275094CA[5], NC_000016.10:g.57275094CA[7], NC_000016.10:g.57275094CA[9], NC_000016.10:g.57275094CA[10], NC_000016.10:g.57275094CA[11], NC_000016.10:g.57275094CA[12], NC_000016.10:g.57275094CA[13], NC_000016.10:g.57275094CA[14], NC_000016.10:g.57275094CA[15], NC_000016.10:g.57275094CA[16], NC_000016.10:g.57275094CA[17], NC_000016.10:g.57275094CA[19], NC_000016.10:g.57275094CA[20], NC_000016.10:g.57275094CA[21], NC_000016.10:g.57275094CA[22], NC_000016.10:g.57275094CA[23], NC_000016.10:g.57275094CA[24], NC_000016.10:g.57275094CA[25], NC_000016.10:g.57275094CA[26], NC_000016.10:g.57275094CA[27], NC_000016.9:g.57309006CA[5], NC_000016.9:g.57309006CA[7], NC_000016.9:g.57309006CA[9], NC_000016.9:g.57309006CA[10], NC_000016.9:g.57309006CA[11], NC_000016.9:g.57309006CA[12], NC_000016.9:g.57309006CA[13], NC_000016.9:g.57309006CA[14], NC_000016.9:g.57309006CA[15], NC_000016.9:g.57309006CA[16], NC_000016.9:g.57309006CA[17], NC_000016.9:g.57309006CA[19], NC_000016.9:g.57309006CA[20], NC_000016.9:g.57309006CA[21], NC_000016.9:g.57309006CA[22], NC_000016.9:g.57309006CA[23], NC_000016.9:g.57309006CA[24], NC_000016.9:g.57309006CA[25], NC_000016.9:g.57309006CA[26], NC_000016.9:g.57309006CA[27]

      3.

      rs1491294416 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        16:57279378 (GRCh38)
        16:57313290 (GRCh37)
        Canonical SPDI:
        NC_000016.10:57279376:TGT:T
        Gene:
        PLLP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        -=0.00005/7 (GnomAD)
        HGVS:

        4.

        rs1491229901 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          16:57275129 (GRCh38)
          16:57309041 (GRCh37)
          Canonical SPDI:
          NC_000016.10:57275128:AT:
          Gene:
          PLLP (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          -=0./0 (ALFA)
          -=0.01365/25 (Korea1K)
          -=0.025/1 (GENOME_DK)
          -=0.02927/491 (TOMMO)
          -=0.0445/165 (TWINSUK)
          -=0.04593/177 (ALSPAC)
          -=0.06333/38 (NorthernSweden)
          -=0.07323/3453 (GnomAD)
          HGVS:

          5.

          rs1491197474 [Homo sapiens]
            Variant type:
            SNV:
            Alleles:
            ->TA
            Chromosome:
            no mapping
            Canonical SPDI:

            6.

            rs1491124538 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->G [Show Flanks]
              Chromosome:
              16:57279377 (GRCh38)
              16:57313290 (GRCh37)
              Canonical SPDI:
              NC_000016.10:57279377:G:GG
              Gene:
              PLLP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              GG=0./0 (ALFA)
              G=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1491037642 has merged into rs57139241 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTACAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAATTTGGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATTTAGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTTTCAAAGAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAACAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAACAAAAAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAATATGGAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAATTTTCAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAATTTTGCAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAACAAAAAAATTTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACACAAAAAAAAAATTTTGAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACACAAAAACAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACACAACAAAAAAATTTGGAAAGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACCAAAAAAAAAATTTGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACCCTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACCAAAAAAAAAAAATTTAACAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACAACAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                16:57275652 (GRCh38)
                16:57309564 (GRCh37)
                Canonical SPDI:
                NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTACAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTCAAAGAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAACAAAAAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAACAAAAAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAATATGGAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAATTTTCAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATTTTGCAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAACAAAAAAATTTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACACAAAAAAAAAATTTTGAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACACAAAAACAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACACAACAAAAAAATTTGGAAAGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAATTTGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACCCTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAATTTAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:57275641:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACAACAAAAAAATTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                PLLP (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAA=0./0 (ALFA)
                AAAAA=0.1605/804 (1000Genomes)
                -=0.2544/29 (NorthernSweden)
                HGVS:
                NC_000016.10:g.57275652_57275661del, NC_000016.10:g.57275653_57275661del, NC_000016.10:g.57275654_57275661del, NC_000016.10:g.57275655_57275661del, NC_000016.10:g.57275656_57275661del, NC_000016.10:g.57275657_57275661del, NC_000016.10:g.57275658_57275661del, NC_000016.10:g.57275659_57275661del, NC_000016.10:g.57275660_57275661del, NC_000016.10:g.57275661del, NC_000016.10:g.57275661dup, NC_000016.10:g.57275660_57275661dup, NC_000016.10:g.57275659_57275661dup, NC_000016.10:g.57275658_57275661dup, NC_000016.10:g.57275656_57275661dup, NC_000016.10:g.57275655_57275661dup, NC_000016.10:g.57275654_57275661dup, NC_000016.10:g.57275653_57275661dup, NC_000016.10:g.57275652_57275661dup, NC_000016.10:g.57275651_57275661dup, NC_000016.10:g.57275648_57275661dup, NC_000016.10:g.57275661_57275662insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.10:g.57275642_57275661A[32]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[32]TTTACAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[32]TTTGGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[30]TTTAGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[28]TTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[28]T[4]CAAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[26]TTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[25]CAAA[2]A[4]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[25]CACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAAAAAAAAAAAAAAAAAAACAAAAAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAAAAAAAAAAAAATATGGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAAAAAAAAAATTTTCAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAAAAAAAAATTTTGCAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAA[2]A[5]TTTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CA[2]A[9]T[4]GAAA[2]A[20], NC_000016.10:g.57275642_57275661A[24]CA[2]A[4]CAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CA[2]ACAAAAAAATTTGGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CCAAAAAAAAAATTTGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CCCTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[24]CTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[23]CAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[23]CCAAAAAAAAAAAATTTAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.10:g.57275642_57275661A[22]CAA[2]A[5]TTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309564_57309573del, NC_000016.9:g.57309565_57309573del, NC_000016.9:g.57309566_57309573del, NC_000016.9:g.57309567_57309573del, NC_000016.9:g.57309568_57309573del, NC_000016.9:g.57309569_57309573del, NC_000016.9:g.57309570_57309573del, NC_000016.9:g.57309571_57309573del, NC_000016.9:g.57309572_57309573del, NC_000016.9:g.57309573del, NC_000016.9:g.57309573dup, NC_000016.9:g.57309572_57309573dup, NC_000016.9:g.57309571_57309573dup, NC_000016.9:g.57309570_57309573dup, NC_000016.9:g.57309568_57309573dup, NC_000016.9:g.57309567_57309573dup, NC_000016.9:g.57309566_57309573dup, NC_000016.9:g.57309565_57309573dup, NC_000016.9:g.57309564_57309573dup, NC_000016.9:g.57309563_57309573dup, NC_000016.9:g.57309560_57309573dup, NC_000016.9:g.57309573_57309574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.57309554_57309573A[32]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[32]TTTACAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[32]TTTGGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[30]TTTAGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[28]TTTAAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[28]T[4]CAAAGAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[26]TTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[25]CAAA[2]A[4]TTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[25]CACTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAAAAAAAAAAAAAAAAAAACAAAAAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAAAAAAAAAAAAATATGGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAAAAAAAAAATTTTCAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAAAAAAAAATTTTGCAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAA[2]A[5]TTTAGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CAACACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CA[2]A[9]T[4]GAAA[2]A[20], NC_000016.9:g.57309554_57309573A[24]CA[2]A[4]CAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CA[2]ACAAAAAAATTTGGAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CCAAAAAAAAAATTTGAAAAGAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CCCTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[24]CTACAAAAAAATTTTGAAAGGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[23]CAAAAAACAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[23]CCAAAAAAAAAAAATTTAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000016.9:g.57309554_57309573A[22]CAA[2]A[5]TTATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

                8.

                rs1490838954 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  A>- [Show Flanks]
                  Chromosome:
                  16:57260450 (GRCh38)
                  16:57294362 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:57260449:AAAA:AAA
                  Gene:
                  PLLP (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAA=0./0 (ALFA)
                  -=0.000107/15 (GnomAD)
                  -=0.000121/32 (TOPMED)
                  -=0.000156/1 (1000Genomes)
                  HGVS:

                  9.

                  rs1490825016 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    16:57279707 (GRCh38)
                    16:57313619 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:57279704:CTCT:CT
                    Gene:
                    PLLP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    CTCT=0./0 (ALFA)
                    -=0.000022/3 (GnomAD)
                    HGVS:

                    10.

                    rs1490788106 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      16:57262571 (GRCh38)
                      16:57296483 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:57262570:T:C
                      Gene:
                      PLLP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000043/6 (GnomAD)
                      C=0.000068/18 (TOPMED)
                      HGVS:

                      11.

                      rs1490744285 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        16:57277084 (GRCh38)
                        16:57310997 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:57277084:T:TT
                        Gene:
                        PLLP (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TT=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:

                        12.

                        rs1490713375 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          16:57278016 (GRCh38)
                          16:57311928 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:57278015:C:T
                          Gene:
                          PLLP (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000007/1 (GnomAD)
                          T=0.000011/3 (TOPMED)
                          HGVS:

                          13.

                          rs1490688212 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>C [Show Flanks]
                            Chromosome:
                            16:57276945 (GRCh38)
                            16:57310857 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:57276944:A:C
                            Gene:
                            PLLP (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            C=0.000019/5 (TOPMED)
                            HGVS:

                            14.

                            rs1490658276 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              16:57262785 (GRCh38)
                              16:57296697 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:57262784:C:T
                              Gene:
                              PLLP (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:

                              15.

                              rs1490635904 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                16:57276460 (GRCh38)
                                16:57310372 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:57276459:T:C
                                Gene:
                                PLLP (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490524315 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  16:57277412 (GRCh38)
                                  16:57311324 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:57277411:A:G
                                  Gene:
                                  PLLP (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:

                                  17.

                                  rs1490461516 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    CCCGCCGCC>- [Show Flanks]
                                    Chromosome:
                                    16:57284722 (GRCh38)
                                    16:57318634 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:57284716:CCGCCCCCGCCGCC:CCGCC
                                    Gene:
                                    PLLP (Varview)
                                    Functional Consequence:
                                    2KB_upstream_variant,upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    CCGCC=0./0 (ALFA)
                                    -=0.000004/1 (TOPMED)
                                    -=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490325649 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      16:57270724 (GRCh38)
                                      16:57304636 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:57270723:G:A,NC_000016.10:57270723:G:C
                                      Gene:
                                      PLLP (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      HGVS:

                                      19.

                                      rs1490297002 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        16:57285076 (GRCh38)
                                        16:57318988 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:57285075:C:T
                                        Gene:
                                        PLLP (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000011/3 (TOPMED)
                                        HGVS:

                                        20.

                                        rs1490200149 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          16:57258772 (GRCh38)
                                          16:57292684 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:57258771:T:G
                                          Gene:
                                          PLLP (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          HGVS:

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