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Items: 1 to 20 of 29212

1.

rs1491561515 has merged into rs751670677 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    GG>-,G,GGG,GGGG [Show Flanks]
    Chromosome:
    5:121973624 (GRCh38)
    5:121309319 (GRCh37)
    Canonical SPDI:
    NC_000005.10:121973615:GGGGGGGGGG:GGGGGGGG,NC_000005.10:121973615:GGGGGGGGGG:GGGGGGGGG,NC_000005.10:121973615:GGGGGGGGGG:GGGGGGGGGGG,NC_000005.10:121973615:GGGGGGGGGG:GGGGGGGGGGGG
    Gene:
    SRFBP1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    GGGGGGGGGGGG=0./0 (ALFA)
    G=0.025/1 (GENOME_DK)
    HGVS:

    2.

    rs1491545031 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GAG [Show Flanks]
      Chromosome:
      5:121989806 (GRCh38)
      5:121325502 (GRCh37)
      Canonical SPDI:
      NC_000005.10:121989806:GAG:GAGGAG
      Gene:
      SRFBP1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GAGGAG=0./0 (ALFA)
      GAG=0.000008/2 (TOPMED)
      GAG=0.000014/2 (GnomAD)
      HGVS:

      3.

      rs1491520902 has merged into rs544584386 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
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how Flanks]
        Chromosome:
        5:121961718 (GRCh38)
        5:121297413 (GRCh37)
        Canonical SPDI:
        NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:121961698:ACACACACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
        Gene:
        SRFBP1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACACACACACACACACACACA=0./0 (ALFA)
        HGVS:
        NC_000005.10:g.121961700CA[9], NC_000005.10:g.121961700CA[10], NC_000005.10:g.121961700CA[11], NC_000005.10:g.121961700CA[12], NC_000005.10:g.121961700CA[13], NC_000005.10:g.121961700CA[14], NC_000005.10:g.121961700CA[15], NC_000005.10:g.121961700CA[16], NC_000005.10:g.121961700CA[17], NC_000005.10:g.121961700CA[18], NC_000005.10:g.121961700CA[19], NC_000005.10:g.121961700CA[20], NC_000005.10:g.121961700CA[21], NC_000005.10:g.121961700CA[22], NC_000005.10:g.121961700CA[23], NC_000005.10:g.121961700CA[25], NC_000005.10:g.121961700CA[26], NC_000005.10:g.121961700CA[27], NC_000005.10:g.121961700CA[28], NC_000005.10:g.121961700CA[29], NC_000005.10:g.121961700CA[30], NC_000005.10:g.121961700CA[31], NC_000005.10:g.121961700CA[32], NC_000005.10:g.121961700CA[33], NC_000005.10:g.121961700CA[34], NC_000005.10:g.121961700CA[35], NC_000005.10:g.121961700CA[36], NC_000005.10:g.121961700CA[37], NC_000005.10:g.121961700CA[38], NC_000005.10:g.121961700CA[39], NC_000005.10:g.121961700CA[40], NC_000005.10:g.121961700CA[41], NC_000005.10:g.121961700CA[44], NC_000005.10:g.121961700CA[45], NC_000005.10:g.121961700CA[49], NC_000005.9:g.121297395CA[9], NC_000005.9:g.121297395CA[10], NC_000005.9:g.121297395CA[11], NC_000005.9:g.121297395CA[12], NC_000005.9:g.121297395CA[13], NC_000005.9:g.121297395CA[14], NC_000005.9:g.121297395CA[15], NC_000005.9:g.121297395CA[16], NC_000005.9:g.121297395CA[17], NC_000005.9:g.121297395CA[18], NC_000005.9:g.121297395CA[19], NC_000005.9:g.121297395CA[20], NC_000005.9:g.121297395CA[21], NC_000005.9:g.121297395CA[22], NC_000005.9:g.121297395CA[23], NC_000005.9:g.121297395CA[25], NC_000005.9:g.121297395CA[26], NC_000005.9:g.121297395CA[27], NC_000005.9:g.121297395CA[28], NC_000005.9:g.121297395CA[29], NC_000005.9:g.121297395CA[30], NC_000005.9:g.121297395CA[31], NC_000005.9:g.121297395CA[32], NC_000005.9:g.121297395CA[33], NC_000005.9:g.121297395CA[34], NC_000005.9:g.121297395CA[35], NC_000005.9:g.121297395CA[36], NC_000005.9:g.121297395CA[37], NC_000005.9:g.121297395CA[38], NC_000005.9:g.121297395CA[39], NC_000005.9:g.121297395CA[40], NC_000005.9:g.121297395CA[41], NC_000005.9:g.121297395CA[44], NC_000005.9:g.121297395CA[45], NC_000005.9:g.121297395CA[49]

        4.

        rs1491425386 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->TC [Show Flanks]
          Chromosome:
          5:121961699 (GRCh38)
          5:121297395 (GRCh37)
          Canonical SPDI:
          NC_000005.10:121961699:C:CTC
          Gene:
          SRFBP1 (Varview)
          Functional Consequence:
          upstream_transcript_variant,2KB_upstream_variant
          Validated:
          by frequency,by cluster
          MAF:
          CT=0.00004/1 (TOMMO)
          HGVS:

          5.

          rs1491389691 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->G [Show Flanks]
            Chromosome:
            5:122021694 (GRCh38)
            5:121357390 (GRCh37)
            Canonical SPDI:
            NC_000005.10:122021694:G:GG
            Gene:
            SRFBP1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            GG=0./0 (ALFA)
            G=0.000201/24 (GnomAD)
            G=0.001405/9 (1000Genomes)
            G=0.003371/6 (Korea1K)
            G=0.004356/73 (TOMMO)
            HGVS:

            6.

            rs1491386341 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CTCT>-,CT [Show Flanks]
              Chromosome:
              5:121976130 (GRCh38)
              5:121311825 (GRCh37)
              Canonical SPDI:
              NC_000005.10:121976127:CTCTCT:CT,NC_000005.10:121976127:CTCTCT:CTCT
              Gene:
              SRFBP1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CT=0./0 (ALFA)
              -=0.000042/11 (TOPMED)
              HGVS:

              7.

              rs1491375047 [Homo sapiens]
                Variant type:
                SNV:
                Alleles:
                ->AG
                Chromosome:
                no mapping
                Canonical SPDI:

                8.

                rs1491369717 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  AG>- [Show Flanks]
                  Chromosome:
                  5:122058529 (GRCh38)
                  5:121394224 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:122058528:AG:
                  Gene:
                  SRFBP1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.002613/31 (ALFA)
                  -=0.004349/471 (GnomAD)
                  HGVS:

                  9.

                  rs1491305264 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TG>- [Show Flanks]
                    Chromosome:
                    5:122021694 (GRCh38)
                    5:121357389 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:122021693:TG:
                    Gene:
                    SRFBP1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00219/26 (ALFA)
                    -=0.00042/12 (TOMMO)
                    HGVS:

                    10.

                    rs1491242876 has merged into rs35544795 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      GTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
                      Chromosome:
                      5:122071203 (GRCh38)
                      5:121406898 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:122071193:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
                      Gene:
                      LOX (Varview), SRFBP1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TGTGTGTGTGT=0./0 (ALFA)
                      TG=0.0507/58 (1000Genomes)
                      HGVS:
                      NC_000005.10:g.122071195GT[4], NC_000005.10:g.122071195GT[5], NC_000005.10:g.122071195GT[7], NC_000005.10:g.122071195GT[8], NC_000005.10:g.122071195GT[9], NC_000005.10:g.122071195GT[10], NC_000005.10:g.122071195GT[11], NC_000005.10:g.122071195GT[12], NC_000005.10:g.122071195GT[14], NC_000005.10:g.122071195GT[15], NC_000005.10:g.122071195GT[16], NC_000005.10:g.122071195GT[17], NC_000005.10:g.122071195GT[18], NC_000005.9:g.121406890GT[4], NC_000005.9:g.121406890GT[5], NC_000005.9:g.121406890GT[7], NC_000005.9:g.121406890GT[8], NC_000005.9:g.121406890GT[9], NC_000005.9:g.121406890GT[10], NC_000005.9:g.121406890GT[11], NC_000005.9:g.121406890GT[12], NC_000005.9:g.121406890GT[14], NC_000005.9:g.121406890GT[15], NC_000005.9:g.121406890GT[16], NC_000005.9:g.121406890GT[17], NC_000005.9:g.121406890GT[18], NG_008722.1:g.12142CA[4], NG_008722.1:g.12142CA[5], NG_008722.1:g.12142CA[7], NG_008722.1:g.12142CA[8], NG_008722.1:g.12142CA[9], NG_008722.1:g.12142CA[10], NG_008722.1:g.12142CA[11], NG_008722.1:g.12142CA[12], NG_008722.1:g.12142CA[14], NG_008722.1:g.12142CA[15], NG_008722.1:g.12142CA[16], NG_008722.1:g.12142CA[17], NG_008722.1:g.12142CA[18]

                      11.

                      rs1491151774 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->T [Show Flanks]
                        Chromosome:
                        5:121973616 (GRCh38)
                        5:121309312 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:121973616::T
                        Gene:
                        SRFBP1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000112/14 (GnomAD)
                        HGVS:

                        12.

                        rs1491123208 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          AG>- [Show Flanks]
                          Chromosome:
                          5:121989808 (GRCh38)
                          5:121325503 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:121989805:AGAG:AG
                          Gene:
                          SRFBP1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AGAG=0./0 (ALFA)
                          -=0.000014/2 (GnomAD)
                          -=0.000045/12 (TOPMED)
                          HGVS:

                          13.

                          rs1491064085 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AC>- [Show Flanks]
                            Chromosome:
                            5:121961749 (GRCh38)
                            5:121297444 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:121961748:AC:
                            Gene:
                            SRFBP1 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            -=0./0 (ALFA)
                            HGVS:

                            14.

                            rs1491055409 has merged into rs34687337 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              TTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                              Chromosome:
                              5:121966953 (GRCh38)
                              5:121302648 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:121966946:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                              Gene:
                              SRFBP1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTTTTTTTTT=0./0 (ALFA)
                              TTTTTTTTTTTTTT=0./0 (GENOME_DK)
                              HGVS:
                              NC_000005.10:g.121966953_121966966del, NC_000005.10:g.121966957_121966966del, NC_000005.10:g.121966958_121966966del, NC_000005.10:g.121966960_121966966del, NC_000005.10:g.121966961_121966966del, NC_000005.10:g.121966962_121966966del, NC_000005.10:g.121966965_121966966del, NC_000005.10:g.121966966del, NC_000005.10:g.121966966dup, NC_000005.10:g.121966965_121966966dup, NC_000005.10:g.121966964_121966966dup, NC_000005.10:g.121966963_121966966dup, NC_000005.10:g.121966962_121966966dup, NC_000005.10:g.121966961_121966966dup, NC_000005.10:g.121966960_121966966dup, NC_000005.10:g.121966959_121966966dup, NC_000005.10:g.121966958_121966966dup, NC_000005.10:g.121966957_121966966dup, NC_000005.10:g.121966956_121966966dup, NC_000005.10:g.121966955_121966966dup, NC_000005.10:g.121966954_121966966dup, NC_000005.10:g.121966953_121966966dup, NC_000005.10:g.121966952_121966966dup, NC_000005.10:g.121966951_121966966dup, NC_000005.10:g.121966948_121966966dup, NC_000005.10:g.121966966_121966967insTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.121966966_121966967insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.121966966_121966967insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.121302648_121302661del, NC_000005.9:g.121302652_121302661del, NC_000005.9:g.121302653_121302661del, NC_000005.9:g.121302655_121302661del, NC_000005.9:g.121302656_121302661del, NC_000005.9:g.121302657_121302661del, NC_000005.9:g.121302660_121302661del, NC_000005.9:g.121302661del, NC_000005.9:g.121302661dup, NC_000005.9:g.121302660_121302661dup, NC_000005.9:g.121302659_121302661dup, NC_000005.9:g.121302658_121302661dup, NC_000005.9:g.121302657_121302661dup, NC_000005.9:g.121302656_121302661dup, NC_000005.9:g.121302655_121302661dup, NC_000005.9:g.121302654_121302661dup, NC_000005.9:g.121302653_121302661dup, NC_000005.9:g.121302652_121302661dup, NC_000005.9:g.121302651_121302661dup, NC_000005.9:g.121302650_121302661dup, NC_000005.9:g.121302649_121302661dup, NC_000005.9:g.121302648_121302661dup, NC_000005.9:g.121302647_121302661dup, NC_000005.9:g.121302646_121302661dup, NC_000005.9:g.121302643_121302661dup, NC_000005.9:g.121302661_121302662insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.121302661_121302662insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.121302661_121302662insTTTTTTTTTTTTTTTTTTTTTTTTTTT

                              15.

                              rs1490992585 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                5:122039893 (GRCh38)
                                5:121375588 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:122039892:G:T
                                Gene:
                                SRFBP1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000008/2 (TOPMED)
                                T=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490984186 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  G>- [Show Flanks]
                                  Chromosome:
                                  5:121969265 (GRCh38)
                                  5:121304960 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:121969264:G:
                                  Gene:
                                  SRFBP1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  -=0.000071/1 (ALFA)
                                  -=0.000014/2 (GnomAD)
                                  -=0.000015/4 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490910061 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    5:121967659 (GRCh38)
                                    5:121303354 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:121967658:C:T
                                    Gene:
                                    SRFBP1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490908270 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      5:122028584 (GRCh38)
                                      5:121364279 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:122028583:G:A
                                      Gene:
                                      SRFBP1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000071/1 (ALFA)
                                      A=0.00003/8 (TOPMED)
                                      A=0.000043/6 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490887323 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:122053320 (GRCh38)
                                        5:121389015 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:122053319:C:T
                                        Gene:
                                        SRFBP1 (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490873215 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          5:122040791 (GRCh38)
                                          5:121376486 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:122040790:G:A
                                          Gene:
                                          SRFBP1 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:

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