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Items: 1 to 20 of 27650

1.

rs1491577494 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TAA,TAAA,TAAAA,TAAAAAAA [Show Flanks]
    Chromosome:
    6:105349898 (GRCh38)
    6:105797774 (GRCh37)
    Canonical SPDI:
    NC_000006.12:105349898::TAA,NC_000006.12:105349898::TAAA,NC_000006.12:105349898::TAAAA,NC_000006.12:105349898::TAAAAAAA
    Gene:
    PREP (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TAAA=0./0 (ALFA)
    TAAA=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491566226 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C,CAC [Show Flanks]
      Chromosome:
      6:105402448 (GRCh38)
      6:105850324 (GRCh37)
      Canonical SPDI:
      NC_000006.12:105402448::C,NC_000006.12:105402448::CAC
      Gene:
      PREP (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      CAC=0./0 (ALFA)
      CAC=0.000004/1 (TOPMED)
      HGVS:
      3.

      rs1491564537 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        6:105385283 (GRCh38)
        6:105833158 (GRCh37)
        Canonical SPDI:
        NC_000006.12:105385282:TA:
        Gene:
        PREP (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        -=0.000245/29 (GnomAD)
        HGVS:
        4.

        rs1491381674 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TG>- [Show Flanks]
          Chromosome:
          6:105315061 (GRCh38)
          6:105762936 (GRCh37)
          Canonical SPDI:
          NC_000006.12:105315057:GTGTG:GTG
          Gene:
          PREP (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa
          MAF:
          GTG=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          5.

          rs1491371993 has merged into rs148443780 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ACAAACAA>-,ACAA,ACAAACAAACAA,ACAAACAAACAAACAA [Show Flanks]
            Chromosome:
            6:105277546 (GRCh38)
            6:105725421 (GRCh37)
            Canonical SPDI:
            NC_000006.12:105277536:AACAAACAAACAAACAA:AACAAACAA,NC_000006.12:105277536:AACAAACAAACAAACAA:AACAAACAAACAA,NC_000006.12:105277536:AACAAACAAACAAACAA:AACAAACAAACAAACAAACAA,NC_000006.12:105277536:AACAAACAAACAAACAA:AACAAACAAACAAACAAACAAACAA
            Gene:
            PREP (Varview)
            Functional Consequence:
            3_prime_UTR_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AACAAACAAACAAACAAACAAACAA=0./0 (ALFA)
            -=0.05411/54 (GoNL)
            -=0.05626/248 (Estonian)
            -=0.1/4 (GENOME_DK)
            HGVS:
            6.

            rs1491360130 has merged into rs11354337 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              AAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
              Chromosome:
              6:105385293 (GRCh38)
              6:105833168 (GRCh37)
              Canonical SPDI:
              NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105385283:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              Gene:
              PREP (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              AAAAAAAAA=0./0 (ALFA)
              -=0.00003/8 (TOPMED)
              -=0.4/16 (GENOME_DK)
              HGVS:
              NC_000006.12:g.105385293_105385302del, NC_000006.12:g.105385294_105385302del, NC_000006.12:g.105385295_105385302del, NC_000006.12:g.105385296_105385302del, NC_000006.12:g.105385299_105385302del, NC_000006.12:g.105385300_105385302del, NC_000006.12:g.105385301_105385302del, NC_000006.12:g.105385302del, NC_000006.12:g.105385302dup, NC_000006.12:g.105385301_105385302dup, NC_000006.12:g.105385300_105385302dup, NC_000006.12:g.105385297_105385302dup, NC_000006.12:g.105385296_105385302dup, NC_000006.12:g.105385295_105385302dup, NC_000006.12:g.105385294_105385302dup, NC_000006.12:g.105385289_105385302dup, NC_000006.12:g.105385288_105385302dup, NC_000006.11:g.105833168_105833177del, NC_000006.11:g.105833169_105833177del, NC_000006.11:g.105833170_105833177del, NC_000006.11:g.105833171_105833177del, NC_000006.11:g.105833174_105833177del, NC_000006.11:g.105833175_105833177del, NC_000006.11:g.105833176_105833177del, NC_000006.11:g.105833177del, NC_000006.11:g.105833177dup, NC_000006.11:g.105833176_105833177dup, NC_000006.11:g.105833175_105833177dup, NC_000006.11:g.105833172_105833177dup, NC_000006.11:g.105833171_105833177dup, NC_000006.11:g.105833170_105833177dup, NC_000006.11:g.105833169_105833177dup, NC_000006.11:g.105833164_105833177dup, NC_000006.11:g.105833163_105833177dup, NG_011472.1:g.22802_22811del, NG_011472.1:g.22803_22811del, NG_011472.1:g.22804_22811del, NG_011472.1:g.22805_22811del, NG_011472.1:g.22808_22811del, NG_011472.1:g.22809_22811del, NG_011472.1:g.22810_22811del, NG_011472.1:g.22811del, NG_011472.1:g.22811dup, NG_011472.1:g.22810_22811dup, NG_011472.1:g.22809_22811dup, NG_011472.1:g.22806_22811dup, NG_011472.1:g.22805_22811dup, NG_011472.1:g.22804_22811dup, NG_011472.1:g.22803_22811dup, NG_011472.1:g.22798_22811dup, NG_011472.1:g.22797_22811dup
              7.

              rs1491303011 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                6:105315058 (GRCh38)
                6:105762934 (GRCh37)
                Canonical SPDI:
                NC_000006.12:105315058:T:TT
                Gene:
                PREP (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TT=0./0 (ALFA)
                T=0.000042/11 (TOPMED)
                T=0.000043/6 (GnomAD)
                HGVS:
                8.

                rs1491296467 has merged into rs201604035 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
                  Chromosome:
                  6:105392056 (GRCh38)
                  6:105839931 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:105392043:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
                  Gene:
                  PREP (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  TTTTTTTTTTTTT=0./0 (ALFA)
                  -=0.3/12 (GENOME_DK)
                  HGVS:
                  NC_000006.12:g.105392056_105392062del, NC_000006.12:g.105392057_105392062del, NC_000006.12:g.105392059_105392062del, NC_000006.12:g.105392060_105392062del, NC_000006.12:g.105392061_105392062del, NC_000006.12:g.105392062del, NC_000006.12:g.105392062dup, NC_000006.12:g.105392061_105392062dup, NC_000006.12:g.105392060_105392062dup, NC_000006.12:g.105392059_105392062dup, NC_000006.12:g.105392058_105392062dup, NC_000006.12:g.105392057_105392062dup, NC_000006.11:g.105839931_105839937del, NC_000006.11:g.105839932_105839937del, NC_000006.11:g.105839934_105839937del, NC_000006.11:g.105839935_105839937del, NC_000006.11:g.105839936_105839937del, NC_000006.11:g.105839937del, NC_000006.11:g.105839937dup, NC_000006.11:g.105839936_105839937dup, NC_000006.11:g.105839935_105839937dup, NC_000006.11:g.105839934_105839937dup, NC_000006.11:g.105839933_105839937dup, NC_000006.11:g.105839932_105839937dup, NG_011472.1:g.16045_16051del, NG_011472.1:g.16046_16051del, NG_011472.1:g.16048_16051del, NG_011472.1:g.16049_16051del, NG_011472.1:g.16050_16051del, NG_011472.1:g.16051del, NG_011472.1:g.16051dup, NG_011472.1:g.16050_16051dup, NG_011472.1:g.16049_16051dup, NG_011472.1:g.16048_16051dup, NG_011472.1:g.16047_16051dup, NG_011472.1:g.16046_16051dup
                  9.

                  rs1491252635 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    AA>- [Show Flanks]
                    Chromosome:
                    6:105382270 (GRCh38)
                    6:105830145 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:105382269:AA:
                    Gene:
                    PREP (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0./0 (ALFA)
                    -=0.00007/2 (TOMMO)
                    HGVS:
                    10.

                    rs1491251629 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      CA>- [Show Flanks]
                      Chromosome:
                      6:105371500 (GRCh38)
                      6:105819375 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:105371499:CA:
                      Gene:
                      PREP (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      -=0.00084/10 (ALFA)
                      HGVS:
                      11.

                      rs1491236118 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AA>- [Show Flanks]
                        Chromosome:
                        6:105402449 (GRCh38)
                        6:105850324 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:105402447:AAA:A
                        Gene:
                        PREP (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000506/6 (ALFA)
                        -=0.000528/73 (GnomAD)
                        HGVS:
                        12.

                        rs1491202829 has merged into rs528772896 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                          Chromosome:
                          6:105371512 (GRCh38)
                          6:105819387 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:105371500:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                          Gene:
                          PREP (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAAAAA=0./0 (ALFA)
                          -=0.0016/8 (1000Genomes)
                          HGVS:
                          NC_000006.12:g.105371512_105371526del, NC_000006.12:g.105371513_105371526del, NC_000006.12:g.105371514_105371526del, NC_000006.12:g.105371515_105371526del, NC_000006.12:g.105371516_105371526del, NC_000006.12:g.105371517_105371526del, NC_000006.12:g.105371518_105371526del, NC_000006.12:g.105371519_105371526del, NC_000006.12:g.105371520_105371526del, NC_000006.12:g.105371521_105371526del, NC_000006.12:g.105371522_105371526del, NC_000006.12:g.105371523_105371526del, NC_000006.12:g.105371524_105371526del, NC_000006.12:g.105371525_105371526del, NC_000006.12:g.105371526del, NC_000006.12:g.105371526dup, NC_000006.12:g.105371525_105371526dup, NC_000006.12:g.105371524_105371526dup, NC_000006.12:g.105371523_105371526dup, NC_000006.12:g.105371522_105371526dup, NC_000006.12:g.105371521_105371526dup, NC_000006.12:g.105371520_105371526dup, NC_000006.12:g.105371519_105371526dup, NC_000006.12:g.105371516_105371526dup, NC_000006.12:g.105371515_105371526dup, NC_000006.12:g.105371513_105371526dup, NC_000006.12:g.105371512_105371526dup, NC_000006.12:g.105371511_105371526dup, NC_000006.12:g.105371510_105371526dup, NC_000006.12:g.105371509_105371526dup, NC_000006.12:g.105371508_105371526dup, NC_000006.12:g.105371507_105371526dup, NC_000006.12:g.105371506_105371526dup, NC_000006.12:g.105371505_105371526dup, NC_000006.12:g.105371504_105371526dup, NC_000006.12:g.105371503_105371526dup, NC_000006.12:g.105371502_105371526dup, NC_000006.12:g.105371501_105371526dup, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.105371526_105371527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819387_105819401del, NC_000006.11:g.105819388_105819401del, NC_000006.11:g.105819389_105819401del, NC_000006.11:g.105819390_105819401del, NC_000006.11:g.105819391_105819401del, NC_000006.11:g.105819392_105819401del, NC_000006.11:g.105819393_105819401del, NC_000006.11:g.105819394_105819401del, NC_000006.11:g.105819395_105819401del, NC_000006.11:g.105819396_105819401del, NC_000006.11:g.105819397_105819401del, NC_000006.11:g.105819398_105819401del, NC_000006.11:g.105819399_105819401del, NC_000006.11:g.105819400_105819401del, NC_000006.11:g.105819401del, NC_000006.11:g.105819401dup, NC_000006.11:g.105819400_105819401dup, NC_000006.11:g.105819399_105819401dup, NC_000006.11:g.105819398_105819401dup, NC_000006.11:g.105819397_105819401dup, NC_000006.11:g.105819396_105819401dup, NC_000006.11:g.105819395_105819401dup, NC_000006.11:g.105819394_105819401dup, NC_000006.11:g.105819391_105819401dup, NC_000006.11:g.105819390_105819401dup, NC_000006.11:g.105819388_105819401dup, NC_000006.11:g.105819387_105819401dup, NC_000006.11:g.105819386_105819401dup, NC_000006.11:g.105819385_105819401dup, NC_000006.11:g.105819384_105819401dup, NC_000006.11:g.105819383_105819401dup, NC_000006.11:g.105819382_105819401dup, NC_000006.11:g.105819381_105819401dup, NC_000006.11:g.105819380_105819401dup, NC_000006.11:g.105819379_105819401dup, NC_000006.11:g.105819378_105819401dup, NC_000006.11:g.105819377_105819401dup, NC_000006.11:g.105819376_105819401dup, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.105819401_105819402insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011472.1:g.36580_36594del, NG_011472.1:g.36581_36594del, NG_011472.1:g.36582_36594del, NG_011472.1:g.36583_36594del, NG_011472.1:g.36584_36594del, NG_011472.1:g.36585_36594del, NG_011472.1:g.36586_36594del, NG_011472.1:g.36587_36594del, NG_011472.1:g.36588_36594del, NG_011472.1:g.36589_36594del, NG_011472.1:g.36590_36594del, NG_011472.1:g.36591_36594del, NG_011472.1:g.36592_36594del, NG_011472.1:g.36593_36594del, NG_011472.1:g.36594del, NG_011472.1:g.36594dup, NG_011472.1:g.36593_36594dup, NG_011472.1:g.36592_36594dup, NG_011472.1:g.36591_36594dup, NG_011472.1:g.36590_36594dup, NG_011472.1:g.36589_36594dup, NG_011472.1:g.36588_36594dup, NG_011472.1:g.36587_36594dup, NG_011472.1:g.36584_36594dup, NG_011472.1:g.36583_36594dup, NG_011472.1:g.36581_36594dup, NG_011472.1:g.36580_36594dup, NG_011472.1:g.36579_36594dup, NG_011472.1:g.36578_36594dup, NG_011472.1:g.36577_36594dup, NG_011472.1:g.36576_36594dup, NG_011472.1:g.36575_36594dup, NG_011472.1:g.36574_36594dup, NG_011472.1:g.36573_36594dup, NG_011472.1:g.36572_36594dup, NG_011472.1:g.36571_36594dup, NG_011472.1:g.36570_36594dup, NG_011472.1:g.36569_36594dup, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011472.1:g.36594_36595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                          13.

                          rs1491154512 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            6:105295174 (GRCh38)
                            6:105743049 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:105295172:TAT:T
                            Gene:
                            PREP (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.00017/2 (ALFA)
                            HGVS:
                            14.

                            rs1491115763 has merged into rs796340115 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
                              Chromosome:
                              6:105357922 (GRCh38)
                              6:105805797 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:105357913:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
                              Gene:
                              PREP (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTTTT=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491087975 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GA>- [Show Flanks]
                                Chromosome:
                                6:105387621 (GRCh38)
                                6:105835496 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:105387619:AGA:A
                                Gene:
                                PREP (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1491081714 has merged into rs35275950 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
                                  Chromosome:
                                  6:105344505 (GRCh38)
                                  6:105792380 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:105344491:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
                                  Gene:
                                  PREP (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  AAAAAAAAAAAAAA=0./0 (ALFA)
                                  -=0.1645/824 (1000Genomes)
                                  HGVS:
                                  17.

                                  rs1491039433 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    AG>- [Show Flanks]
                                    Chromosome:
                                    6:105278483 (GRCh38)
                                    6:105726358 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:105278480:AGAG:AG
                                    Gene:
                                    PREP (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AGAG=0./0 (ALFA)
                                    -=0.000004/1 (GnomAD_exomes)
                                    -=0.000007/1 (GnomAD)
                                    -=0.000015/4 (TOPMED)
                                    HGVS:
                                    18.

                                    rs1490969349 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>A [Show Flanks]
                                      Chromosome:
                                      6:105387165 (GRCh38)
                                      6:105835040 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:105387164:T:A
                                      Gene:
                                      PREP (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490966212 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:105319153 (GRCh38)
                                        6:105767028 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:105319152:G:A
                                        Gene:
                                        PREP (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490959155 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:105336237 (GRCh38)
                                          6:105784112 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:105336236:G:A
                                          Gene:
                                          PREP (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          HGVS:

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