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Items: 1 to 20 of 1000

1.

rs1491565460 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    5:60944716 (GRCh38)
    5:60240543 (GRCh37)
    Canonical SPDI:
    NC_000005.10:60944714:CAC:C
    Gene:
    ERCC8 (Varview), NDUFAF2 (Varview)
    Functional Consequence:
    intron_variant,upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00008/1 (ALFA)
    -=0.00011/2 (TOMMO)
    HGVS:

    2.

    rs1491528990 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      5:60961765 (GRCh38)
      5:60257592 (GRCh37)
      Canonical SPDI:
      NC_000005.10:60961764:CA:
      Gene:
      NDUFAF2 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.00008/1 (ALFA)
      HGVS:

      3.

      rs1491479015 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CT>- [Show Flanks]
        Chromosome:
        5:60984855 (GRCh38)
        5:60280682 (GRCh37)
        Canonical SPDI:
        NC_000005.10:60984851:TCTCT:TCT
        Gene:
        NDUFAF2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        TCT=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        HGVS:

        4.

        rs1491478722 has merged into rs11285395 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
          Chromosome:
          5:60947779 (GRCh38)
          5:60243606 (GRCh37)
          Canonical SPDI:
          NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:60947765:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          NDUFAF2 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.60947779_60947783del, NC_000005.10:g.60947780_60947783del, NC_000005.10:g.60947781_60947783del, NC_000005.10:g.60947782_60947783del, NC_000005.10:g.60947783del, NC_000005.10:g.60947783dup, NC_000005.10:g.60947782_60947783dup, NC_000005.10:g.60947781_60947783dup, NC_000005.10:g.60947779_60947783dup, NC_000005.9:g.60243606_60243610del, NC_000005.9:g.60243607_60243610del, NC_000005.9:g.60243608_60243610del, NC_000005.9:g.60243609_60243610del, NC_000005.9:g.60243610del, NC_000005.9:g.60243610dup, NC_000005.9:g.60243609_60243610dup, NC_000005.9:g.60243608_60243610dup, NC_000005.9:g.60243606_60243610dup, NG_008978.1:g.7651_7655del, NG_008978.1:g.7652_7655del, NG_008978.1:g.7653_7655del, NG_008978.1:g.7654_7655del, NG_008978.1:g.7655del, NG_008978.1:g.7655dup, NG_008978.1:g.7654_7655dup, NG_008978.1:g.7653_7655dup, NG_008978.1:g.7651_7655dup, NG_009289.1:g.2309_2313del, NG_009289.1:g.2310_2313del, NG_009289.1:g.2311_2313del, NG_009289.1:g.2312_2313del, NG_009289.1:g.2313del, NG_009289.1:g.2313dup, NG_009289.1:g.2312_2313dup, NG_009289.1:g.2311_2313dup, NG_009289.1:g.2309_2313dup

          5.

          rs1491453788 has merged into rs138511749 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AGAGAGAGAGAGAG>-,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
            Chromosome:
            5:61038103 (GRCh38)
            5:60333930 (GRCh37)
            Canonical SPDI:
            NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000005.10:61038088:AGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
            Gene:
            NDUFAF2 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AGAGAGAGAGAGAGAGAG=0./0 (ALFA)
            AG=0.356/1783 (1000Genomes)
            HGVS:
            NC_000005.10:g.61038089AG[7], NC_000005.10:g.61038089AG[9], NC_000005.10:g.61038089AG[10], NC_000005.10:g.61038089AG[11], NC_000005.10:g.61038089AG[12], NC_000005.10:g.61038089AG[13], NC_000005.10:g.61038089AG[15], NC_000005.10:g.61038089AG[16], NC_000005.10:g.61038089AG[17], NC_000005.10:g.61038089AG[18], NC_000005.10:g.61038089AG[19], NC_000005.10:g.61038089AG[20], NC_000005.9:g.60333916AG[7], NC_000005.9:g.60333916AG[9], NC_000005.9:g.60333916AG[10], NC_000005.9:g.60333916AG[11], NC_000005.9:g.60333916AG[12], NC_000005.9:g.60333916AG[13], NC_000005.9:g.60333916AG[15], NC_000005.9:g.60333916AG[16], NC_000005.9:g.60333916AG[17], NC_000005.9:g.60333916AG[18], NC_000005.9:g.60333916AG[19], NC_000005.9:g.60333916AG[20], NG_008978.1:g.97961AG[7], NG_008978.1:g.97961AG[9], NG_008978.1:g.97961AG[10], NG_008978.1:g.97961AG[11], NG_008978.1:g.97961AG[12], NG_008978.1:g.97961AG[13], NG_008978.1:g.97961AG[15], NG_008978.1:g.97961AG[16], NG_008978.1:g.97961AG[17], NG_008978.1:g.97961AG[18], NG_008978.1:g.97961AG[19], NG_008978.1:g.97961AG[20]

            6.

            rs1491446317 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              5:60957499 (GRCh38)
              5:60253326 (GRCh37)
              Canonical SPDI:
              NC_000005.10:60957498:CT:
              Gene:
              NDUFAF2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0./0 (ALFA)
              -=0.00002/1 (GnomAD)
              HGVS:

              7.

              rs1491431892 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GG>- [Show Flanks]
                Chromosome:
                5:60972788 (GRCh38)
                5:60268615 (GRCh37)
                Canonical SPDI:
                NC_000005.10:60972787:GG:
                Gene:
                NDUFAF2 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0.003/49 (ALFA)
                HGVS:

                8.

                rs1491390214 [Homo sapiens]
                  Variant type:
                  INS
                  Alleles:
                  ->G [Show Flanks]
                  Chromosome:
                  5:60984852 (GRCh38)
                  5:60280680 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:60984852::G
                  Gene:
                  NDUFAF2 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000146/20 (GnomAD)
                  HGVS:

                  9.

                  rs1491370791 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    5:60947765 (GRCh38)
                    5:60243592 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:60947764:CA:
                    Gene:
                    NDUFAF2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.00742/88 (ALFA)
                    -=0.00216/61 (TOMMO)
                    HGVS:

                    10.

                    rs1491328700 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->GGAGAG
                      Chromosome:
                      no mapping
                      Canonical SPDI:

                      11.

                      rs1491326257 has merged into rs35145386 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAATGAACTGAAGTTTTATGTTTAAACATGAATAAAAATAAAAAAAAATGAAACTGAAAAAAAAAAAAAAAAAA [Show Flanks]
                        Chromosome:
                        5:61105640 (GRCh38)
                        5:60401467 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:61105629:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAATAAAAAATGAACTGAAGTTTTATGTTTAAACATGAATAAAAATAAAAAAAAATGAAACTGAAAAAAAAAAAAAAAAAA
                        Gene:
                        NDUFAF2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        AAAAAAAAAAA=0./0 (ALFA)
                        A=0.45/18 (GENOME_DK)
                        HGVS:
                        NC_000005.10:g.61105640_61105644del, NC_000005.10:g.61105641_61105644del, NC_000005.10:g.61105642_61105644del, NC_000005.10:g.61105643_61105644del, NC_000005.10:g.61105644del, NC_000005.10:g.61105644dup, NC_000005.10:g.61105643_61105644dup, NC_000005.10:g.61105644_61105645insAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.61105644_61105645insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.61105630_61105644A[24]TAAAAAATGAACTGAAGTTTTATGTTTAAACATGAATAAAAATAAAAAAAAATGAAACTGAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.60401467_60401471del, NC_000005.9:g.60401468_60401471del, NC_000005.9:g.60401469_60401471del, NC_000005.9:g.60401470_60401471del, NC_000005.9:g.60401471del, NC_000005.9:g.60401471dup, NC_000005.9:g.60401470_60401471dup, NC_000005.9:g.60401471_60401472insAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.60401471_60401472insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.60401457_60401471A[24]TAAAAAATGAACTGAAGTTTTATGTTTAAACATGAATAAAAATAAAAAAAAATGAAACTGAAAAAAAAAAAAAAAAAA[1], NG_008978.1:g.165512_165516del, NG_008978.1:g.165513_165516del, NG_008978.1:g.165514_165516del, NG_008978.1:g.165515_165516del, NG_008978.1:g.165516del, NG_008978.1:g.165516dup, NG_008978.1:g.165515_165516dup, NG_008978.1:g.165516_165517insAAAAAAAAAAAAAAAAAAAA, NG_008978.1:g.165516_165517insAAAAAAAAAAAAAAAAAAAAA, NG_008978.1:g.165502_165516A[24]TAAAAAATGAACTGAAGTTTTATGTTTAAACATGAATAAAAATAAAAAAAAATGAAACTGAAAAAAAAAAAAAAAAAA[1]

                        12.

                        rs1491299062 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          CT>- [Show Flanks]
                          Chromosome:
                          5:61069126 (GRCh38)
                          5:60364953 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:61069125:CT:
                          Gene:
                          NDUFAF2 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000016/2 (GnomAD)
                          HGVS:

                          13.

                          rs1491274277 [Homo sapiens]
                            Variant type:
                            DEL
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            5:61022811 (GRCh38)
                            5:60318638 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:61022810:AT:
                            Gene:
                            NDUFAF2 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            -=0./0 (ALFA)
                            -=0.000014/2 (GnomAD)
                            -=0.000015/4 (TOPMED)
                            HGVS:

                            14.

                            rs1491264060 has merged into rs55910021 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ACACACACACACACACACAC>-,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
                              Chromosome:
                              5:61040268 (GRCh38)
                              5:60336095 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000005.10:61040251:ACACACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
                              Gene:
                              NDUFAF2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              ACACACACACACACAC=0./0 (ALFA)
                              HGVS:
                              NC_000005.10:g.61040252AC[8], NC_000005.10:g.61040252AC[10], NC_000005.10:g.61040252AC[11], NC_000005.10:g.61040252AC[12], NC_000005.10:g.61040252AC[13], NC_000005.10:g.61040252AC[14], NC_000005.10:g.61040252AC[15], NC_000005.10:g.61040252AC[16], NC_000005.10:g.61040252AC[17], NC_000005.10:g.61040252AC[19], NC_000005.10:g.61040252AC[20], NC_000005.10:g.61040252AC[21], NC_000005.10:g.61040252AC[22], NC_000005.10:g.61040252AC[23], NC_000005.10:g.61040252AC[24], NC_000005.10:g.61040252AC[25], NC_000005.10:g.61040252AC[26], NC_000005.10:g.61040252AC[27], NC_000005.10:g.61040252AC[28], NC_000005.10:g.61040252AC[29], NC_000005.9:g.60336079AC[8], NC_000005.9:g.60336079AC[10], NC_000005.9:g.60336079AC[11], NC_000005.9:g.60336079AC[12], NC_000005.9:g.60336079AC[13], NC_000005.9:g.60336079AC[14], NC_000005.9:g.60336079AC[15], NC_000005.9:g.60336079AC[16], NC_000005.9:g.60336079AC[17], NC_000005.9:g.60336079AC[19], NC_000005.9:g.60336079AC[20], NC_000005.9:g.60336079AC[21], NC_000005.9:g.60336079AC[22], NC_000005.9:g.60336079AC[23], NC_000005.9:g.60336079AC[24], NC_000005.9:g.60336079AC[25], NC_000005.9:g.60336079AC[26], NC_000005.9:g.60336079AC[27], NC_000005.9:g.60336079AC[28], NC_000005.9:g.60336079AC[29], NG_008978.1:g.100124AC[8], NG_008978.1:g.100124AC[10], NG_008978.1:g.100124AC[11], NG_008978.1:g.100124AC[12], NG_008978.1:g.100124AC[13], NG_008978.1:g.100124AC[14], NG_008978.1:g.100124AC[15], NG_008978.1:g.100124AC[16], NG_008978.1:g.100124AC[17], NG_008978.1:g.100124AC[19], NG_008978.1:g.100124AC[20], NG_008978.1:g.100124AC[21], NG_008978.1:g.100124AC[22], NG_008978.1:g.100124AC[23], NG_008978.1:g.100124AC[24], NG_008978.1:g.100124AC[25], NG_008978.1:g.100124AC[26], NG_008978.1:g.100124AC[27], NG_008978.1:g.100124AC[28], NG_008978.1:g.100124AC[29]

                              15.

                              rs1491236283 [Homo sapiens]
                                Variant type:
                                INS
                                Alleles:
                                ->C,CA,CACGCGCGCGCGC,CC,CGC,CGCA,CGCGC,CGCGCGC,CGCGCGCGC,CGCGCGCGCGC,CGCGCGCGCGCGC,CGCGCGCGCGCGCGC,CGCGCGCGCGCGCGCGCGC,CGCTCGC,CT [Show Flanks]
                                Chromosome:
                                5:61040302 (GRCh38)
                                5:60336130 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:61040302::C,NC_000005.10:61040302::CA,NC_000005.10:61040302::CACGCGCGCGCGC,NC_000005.10:61040302::CC,NC_000005.10:61040302::CGC,NC_000005.10:61040302::CGCA,NC_000005.10:61040302::CGCGC,NC_000005.10:61040302::CGCGCGC,NC_000005.10:61040302::CGCGCGCGC,NC_000005.10:61040302::CGCGCGCGCGC,NC_000005.10:61040302::CGCGCGCGCGCGC,NC_000005.10:61040302::CGCGCGCGCGCGCGC,NC_000005.10:61040302::CGCGCGCGCGCGCGCGCGC,NC_000005.10:61040302::CGCTCGC,NC_000005.10:61040302::CT
                                Gene:
                                NDUFAF2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CGCA=0./0 (ALFA)
                                CA=0.000004/1 (TOPMED)
                                CGCGCGC=0.000179/3 (TOMMO)
                                HGVS:
                                NC_000005.10:g.61040302_61040303insC, NC_000005.10:g.61040302_61040303insCA, NC_000005.10:g.61040302_61040303insCACGCGCGCGCGC, NC_000005.10:g.61040302_61040303insCC, NC_000005.10:g.61040302_61040303insCGC, NC_000005.10:g.61040302_61040303insCGCA, NC_000005.10:g.61040302_61040303insCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGCGCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGCGCGCGCGC, NC_000005.10:g.61040302_61040303insCGCGCGCGCGCGCGCGCGC, NC_000005.10:g.61040302_61040303insCGCTCGC, NC_000005.10:g.61040302_61040303insCT, NC_000005.9:g.60336129_60336130insC, NC_000005.9:g.60336129_60336130insCA, NC_000005.9:g.60336129_60336130insCACGCGCGCGCGC, NC_000005.9:g.60336129_60336130insCC, NC_000005.9:g.60336129_60336130insCGC, NC_000005.9:g.60336129_60336130insCGCA, NC_000005.9:g.60336129_60336130insCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGCGCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGCGCGCGCGC, NC_000005.9:g.60336129_60336130insCGCGCGCGCGCGCGCGCGC, NC_000005.9:g.60336129_60336130insCGCTCGC, NC_000005.9:g.60336129_60336130insCT, NG_008978.1:g.100174_100175insC, NG_008978.1:g.100174_100175insCA, NG_008978.1:g.100174_100175insCACGCGCGCGCGC, NG_008978.1:g.100174_100175insCC, NG_008978.1:g.100174_100175insCGC, NG_008978.1:g.100174_100175insCGCA, NG_008978.1:g.100174_100175insCGCGC, NG_008978.1:g.100174_100175insCGCGCGC, NG_008978.1:g.100174_100175insCGCGCGCGC, NG_008978.1:g.100174_100175insCGCGCGCGCGC, NG_008978.1:g.100174_100175insCGCGCGCGCGCGC, NG_008978.1:g.100174_100175insCGCGCGCGCGCGCGC, NG_008978.1:g.100174_100175insCGCGCGCGCGCGCGCGCGC, NG_008978.1:g.100174_100175insCGCTCGC, NG_008978.1:g.100174_100175insCT

                                16.

                                rs1491235277 has merged into rs34115919 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
                                  Chromosome:
                                  5:60944713 (GRCh38)
                                  5:60240540 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:60944705:CCCCCCCCCC:CCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000005.10:60944705:CCCCCCCCCC:CCCCCCCCCCCCCCCC
                                  Gene:
                                  ERCC8 (Varview), NDUFAF2 (Varview)
                                  Functional Consequence:
                                  intron_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  CCCCCCCCCCCCC=0./0 (ALFA)
                                  C=0.3768/1887 (1000Genomes)
                                  HGVS:
                                  NC_000005.10:g.60944713_60944715del, NC_000005.10:g.60944714_60944715del, NC_000005.10:g.60944715del, NC_000005.10:g.60944715dup, NC_000005.10:g.60944714_60944715dup, NC_000005.10:g.60944713_60944715dup, NC_000005.10:g.60944712_60944715dup, NC_000005.10:g.60944711_60944715dup, NC_000005.10:g.60944710_60944715dup, NC_000005.9:g.60240540_60240542del, NC_000005.9:g.60240541_60240542del, NC_000005.9:g.60240542del, NC_000005.9:g.60240542dup, NC_000005.9:g.60240541_60240542dup, NC_000005.9:g.60240540_60240542dup, NC_000005.9:g.60240539_60240542dup, NC_000005.9:g.60240538_60240542dup, NC_000005.9:g.60240537_60240542dup, NG_008978.1:g.4585_4587del, NG_008978.1:g.4586_4587del, NG_008978.1:g.4587del, NG_008978.1:g.4587dup, NG_008978.1:g.4586_4587dup, NG_008978.1:g.4585_4587dup, NG_008978.1:g.4584_4587dup, NG_008978.1:g.4583_4587dup, NG_008978.1:g.4582_4587dup, NG_009289.1:g.5371_5373del, NG_009289.1:g.5372_5373del, NG_009289.1:g.5373del, NG_009289.1:g.5373dup, NG_009289.1:g.5372_5373dup, NG_009289.1:g.5371_5373dup, NG_009289.1:g.5370_5373dup, NG_009289.1:g.5369_5373dup, NG_009289.1:g.5368_5373dup

                                  17.

                                  rs1491220278 [Homo sapiens]
                                    Variant type:
                                    INS
                                    Alleles:
                                    ->G,GTG,GTGTG,GTGTGTG,GTGTGTGTG [Show Flanks]
                                    Chromosome:
                                    5:61143960 (GRCh38)
                                    5:60439788 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:61143960::G,NC_000005.10:61143960::GTG,NC_000005.10:61143960::GTGTG,NC_000005.10:61143960::GTGTGTG,NC_000005.10:61143960::GTGTGTGTG
                                    Gene:
                                    NDUFAF2 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GTGTG=0./0 (ALFA)
                                    G=0.06679/37 (NorthernSweden)
                                    HGVS:

                                    18.

                                    rs1491219549 has merged into rs1414478974 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TATA>-,TA,TATATA [Show Flanks]
                                      Chromosome:
                                      5:61049827 (GRCh38)
                                      5:60345654 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:61049821:ATATATATA:ATATA,NC_000005.10:61049821:ATATATATA:ATATATA,NC_000005.10:61049821:ATATATATA:ATATATATATA
                                      Gene:
                                      NDUFAF2 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      ATATATA=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1491213816 has merged into rs70977820 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        GA>- [Show Flanks]
                                        Chromosome:
                                        5:61040302 (GRCh38)
                                        5:60336129 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:61040301:GA:
                                        Gene:
                                        NDUFAF2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0.018547/220 (ALFA)
                                        -=0.002017/34 (TOMMO)
                                        -=0.002183/4 (Korea1K)
                                        -=0.023333/14 (NorthernSweden)
                                        -=0.030288/4066 (GnomAD)
                                        -=0.039875/178 (Estonian)
                                        HGVS:

                                        20.

                                        rs1491202505 [Homo sapiens]
                                          Variant type:
                                          DEL
                                          Alleles:
                                          AC>- [Show Flanks]
                                          Chromosome:
                                          5:60944705 (GRCh38)
                                          5:60240532 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:60944704:AC:
                                          Gene:
                                          ERCC8 (Varview), NDUFAF2 (Varview)
                                          Functional Consequence:
                                          intron_variant,upstream_transcript_variant,2KB_upstream_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          -=0.00067/8 (ALFA)
                                          HGVS:

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