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Items: 1 to 20 of 1000

1.

rs1491588183 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    CC>-,C [Show Flanks]
    Chromosome:
    2:47507060 (GRCh38)
    2:47734199 (GRCh37)
    Canonical SPDI:
    NC_000002.12:47507058:CCC:C,NC_000002.12:47507058:CCC:CC
    Gene:
    MSH2 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    -=0.00041/17 (GnomAD)
    HGVS:

    2.

    rs1491569042 has merged into rs550967151 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTT>-,T,TTT,TTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      2:47477978 (GRCh38)
      2:47705117 (GRCh37)
      Canonical SPDI:
      NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47477965:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      MSH2 (Varview)
      Functional Consequence:
      intron_variant
      Clinical significance:
      likely-benign,benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTTT=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      -=0.091853/460 (1000Genomes)
      HGVS:
      NC_000002.12:g.47477978_47477988del, NC_000002.12:g.47477979_47477988del, NC_000002.12:g.47477981_47477988del, NC_000002.12:g.47477982_47477988del, NC_000002.12:g.47477987_47477988del, NC_000002.12:g.47477988del, NC_000002.12:g.47477988dup, NC_000002.12:g.47477987_47477988dup, NC_000002.12:g.47477986_47477988dup, NC_000002.12:g.47477983_47477988dup, NC_000002.12:g.47477982_47477988dup, NC_000002.12:g.47477980_47477988dup, NC_000002.12:g.47477988_47477989insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47705117_47705127del, NC_000002.11:g.47705118_47705127del, NC_000002.11:g.47705120_47705127del, NC_000002.11:g.47705121_47705127del, NC_000002.11:g.47705126_47705127del, NC_000002.11:g.47705127del, NC_000002.11:g.47705127dup, NC_000002.11:g.47705126_47705127dup, NC_000002.11:g.47705125_47705127dup, NC_000002.11:g.47705122_47705127dup, NC_000002.11:g.47705121_47705127dup, NC_000002.11:g.47705119_47705127dup, NC_000002.11:g.47705127_47705128insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007110.2:g.79855_79865del, NG_007110.2:g.79856_79865del, NG_007110.2:g.79858_79865del, NG_007110.2:g.79859_79865del, NG_007110.2:g.79864_79865del, NG_007110.2:g.79865del, NG_007110.2:g.79865dup, NG_007110.2:g.79864_79865dup, NG_007110.2:g.79863_79865dup, NG_007110.2:g.79860_79865dup, NG_007110.2:g.79859_79865dup, NG_007110.2:g.79857_79865dup, NG_007110.2:g.79865_79866insTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491550397 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        GT>- [Show Flanks]
        Chromosome:
        2:47442419 (GRCh38)
        2:47669558 (GRCh37)
        Canonical SPDI:
        NC_000002.12:47442418:GT:
        Gene:
        MSH2 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491544720 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          2:47620525 (GRCh38)
          2:47847664 (GRCh37)
          Canonical SPDI:
          NC_000002.12:47620523:TAT:T
          Gene:
          MSH2 (Varview)
          Functional Consequence:
          intron_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          -=0.000004/1 (TOPMED)
          -=0.000007/1 (GnomAD)
          HGVS:

          5.

          rs1491535307 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CC>- [Show Flanks]
            Chromosome:
            2:47507056 (GRCh38)
            2:47734195 (GRCh37)
            Canonical SPDI:
            NC_000002.12:47507054:CCC:C
            Gene:
            MSH2 (Varview)
            Functional Consequence:
            intron_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            -=0.00179/74 (GnomAD)
            HGVS:

            6.

            rs1491530960 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              2:47421225 (GRCh38)
              2:47648364 (GRCh37)
              Canonical SPDI:
              NC_000002.12:47421224:CA:
              Gene:
              MSH2 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00025/3 (ALFA)
              HGVS:

              7.

              rs1491504984 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TG>-,TGTG [Show Flanks]
                Chromosome:
                2:47631631 (GRCh38)
                2:47858770 (GRCh37)
                Canonical SPDI:
                NC_000002.12:47631629:GTG:G,NC_000002.12:47631629:GTG:GTGTG
                Gene:
                MSH2 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.00465/51 (ALFA)
                -=0.07339/299 (Estonian)
                -=0.09559/52 (NorthernSweden)
                -=0.10806/692 (1000Genomes)
                -=0.14105/523 (TWINSUK)
                -=0.1562/602 (ALSPAC)
                -=0.18452/31 (Vietnamese)
                -=0.19902/2561 (TOMMO)
                -=0.24965/357 (Korea1K)
                HGVS:

                8.

                rs1491486178 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->AC,CC [Show Flanks]
                  Chromosome:
                  2:47631632 (GRCh38)
                  2:47858772 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:47631632:C:CAC,NC_000002.12:47631632:C:CCC
                  Gene:
                  MSH2 (Varview)
                  Functional Consequence:
                  intron_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  CAC=0./0 (ALFA)
                  CA=0.000018/2 (GnomAD)
                  HGVS:

                  9.

                  rs1491480305 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    2:47405421 (GRCh38)
                    2:47632560 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:47405420:CA:
                    Gene:
                    MSH2 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00008/1 (ALFA)
                    HGVS:

                    10.

                    rs1491477734 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->T [Show Flanks]
                      Chromosome:
                      2:47477964 (GRCh38)
                      2:47705104 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:47477964::T
                      Gene:
                      MSH2 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:

                      11.

                      rs1491467785 [Homo sapiens]
                        Variant type:
                        DEL
                        Alleles:
                        CC>- [Show Flanks]
                        Chromosome:
                        2:47461971 (GRCh38)
                        2:47689110 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:47461970:CC:
                        Gene:
                        MSH2 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.05611/3593 (GnomAD)
                        -=0.16064/2660 (TOMMO)
                        HGVS:

                        12.

                        rs1491426314 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TG>- [Show Flanks]
                          Chromosome:
                          2:47550400 (GRCh38)
                          2:47777539 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:47550399:TG:
                          Gene:
                          MSH2 (Varview), KCNK12 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          HGVS:

                          13.

                          rs1491421926 [Homo sapiens]
                            Variant type:
                            INS
                            Alleles:
                            ->C [Show Flanks]
                            Chromosome:
                            2:47401242 (GRCh38)
                            2:47628382 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:47401242::C
                            Gene:
                            MSH2 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.00008/1 (ALFA)
                            HGVS:

                            14.

                            rs1491421180 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CT>- [Show Flanks]
                              Chromosome:
                              2:47476615 (GRCh38)
                              2:47703754 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:47476611:TCTCT:TCT
                              Gene:
                              MSH2 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by cluster
                              MAF:
                              -=0.000004/1 (GnomAD_exomes)
                              -=0.000008/1 (ExAC)
                              HGVS:

                              15.

                              rs1491414279 has merged into rs554793837 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                CCCCC>-,CC,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
                                Chromosome:
                                2:47433055 (GRCh38)
                                2:47660194 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000002.12:47433047:CCCCCCCCCCCC:CCCCCCCCCCCCCCCC
                                Gene:
                                MSH2 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CCCCCCCCCC=0./0 (ALFA)
                                C=0.0118/59 (1000Genomes)
                                HGVS:

                                16.

                                rs1491385788 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->TTTT,TTTTCTTTT,TTTTCTTTTCTTTT,TTTTCTTTTCTTTTCTTTT [Show Flanks]
                                  Chromosome:
                                  2:47461971 (GRCh38)
                                  2:47689111 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:47461971::TTTT,NC_000002.12:47461971::TTTTCTTTT,NC_000002.12:47461971::TTTTCTTTTCTTTT,NC_000002.12:47461971::TTTTCTTTTCTTTTCTTTT
                                  Gene:
                                  MSH2 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by cluster
                                  HGVS:

                                  17.

                                  rs1491385584 has merged into rs778466170 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GC>-,GCGC [Show Flanks]
                                    Chromosome:
                                    2:47631636 (GRCh38)
                                    2:47858775 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:47631631:GCGCGC:GCGC,NC_000002.12:47631631:GCGCGC:GCGCGCGC
                                    Gene:
                                    MSH2 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GCGCGCGC=0./0 (ALFA)
                                    -=0.002085/552 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1491376391 has merged into rs35385590 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                      Chromosome:
                                      2:47401250 (GRCh38)
                                      2:47628389 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:47401241:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                      Gene:
                                      MSH2 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,2KB_upstream_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      TTTTTTTT=0./0 (ALFA)
                                      HGVS:
                                      NC_000002.12:g.47401250_47401265del, NC_000002.12:g.47401252_47401265del, NC_000002.12:g.47401253_47401265del, NC_000002.12:g.47401254_47401265del, NC_000002.12:g.47401255_47401265del, NC_000002.12:g.47401256_47401265del, NC_000002.12:g.47401257_47401265del, NC_000002.12:g.47401258_47401265del, NC_000002.12:g.47401259_47401265del, NC_000002.12:g.47401260_47401265del, NC_000002.12:g.47401261_47401265del, NC_000002.12:g.47401262_47401265del, NC_000002.12:g.47401263_47401265del, NC_000002.12:g.47401264_47401265del, NC_000002.12:g.47401265del, NC_000002.12:g.47401265dup, NC_000002.12:g.47401264_47401265dup, NC_000002.12:g.47401263_47401265dup, NC_000002.12:g.47401262_47401265dup, NC_000002.12:g.47401261_47401265dup, NC_000002.12:g.47401260_47401265dup, NC_000002.12:g.47401259_47401265dup, NC_000002.12:g.47401258_47401265dup, NC_000002.12:g.47401257_47401265dup, NC_000002.12:g.47401256_47401265dup, NC_000002.12:g.47401255_47401265dup, NC_000002.12:g.47401253_47401265dup, NC_000002.12:g.47401251_47401265dup, NC_000002.12:g.47401265_47401266insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.47401265_47401266insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47628389_47628404del, NC_000002.11:g.47628391_47628404del, NC_000002.11:g.47628392_47628404del, NC_000002.11:g.47628393_47628404del, NC_000002.11:g.47628394_47628404del, NC_000002.11:g.47628395_47628404del, NC_000002.11:g.47628396_47628404del, NC_000002.11:g.47628397_47628404del, NC_000002.11:g.47628398_47628404del, NC_000002.11:g.47628399_47628404del, NC_000002.11:g.47628400_47628404del, NC_000002.11:g.47628401_47628404del, NC_000002.11:g.47628402_47628404del, NC_000002.11:g.47628403_47628404del, NC_000002.11:g.47628404del, NC_000002.11:g.47628404dup, NC_000002.11:g.47628403_47628404dup, NC_000002.11:g.47628402_47628404dup, NC_000002.11:g.47628401_47628404dup, NC_000002.11:g.47628400_47628404dup, NC_000002.11:g.47628399_47628404dup, NC_000002.11:g.47628398_47628404dup, NC_000002.11:g.47628397_47628404dup, NC_000002.11:g.47628396_47628404dup, NC_000002.11:g.47628395_47628404dup, NC_000002.11:g.47628394_47628404dup, NC_000002.11:g.47628392_47628404dup, NC_000002.11:g.47628390_47628404dup, NC_000002.11:g.47628404_47628405insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.47628404_47628405insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007110.2:g.3127_3142del, NG_007110.2:g.3129_3142del, NG_007110.2:g.3130_3142del, NG_007110.2:g.3131_3142del, NG_007110.2:g.3132_3142del, NG_007110.2:g.3133_3142del, NG_007110.2:g.3134_3142del, NG_007110.2:g.3135_3142del, NG_007110.2:g.3136_3142del, NG_007110.2:g.3137_3142del, NG_007110.2:g.3138_3142del, NG_007110.2:g.3139_3142del, NG_007110.2:g.3140_3142del, NG_007110.2:g.3141_3142del, NG_007110.2:g.3142del, NG_007110.2:g.3142dup, NG_007110.2:g.3141_3142dup, NG_007110.2:g.3140_3142dup, NG_007110.2:g.3139_3142dup, NG_007110.2:g.3138_3142dup, NG_007110.2:g.3137_3142dup, NG_007110.2:g.3136_3142dup, NG_007110.2:g.3135_3142dup, NG_007110.2:g.3134_3142dup, NG_007110.2:g.3133_3142dup, NG_007110.2:g.3132_3142dup, NG_007110.2:g.3130_3142dup, NG_007110.2:g.3128_3142dup, NG_007110.2:g.3142_3143insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007110.2:g.3142_3143insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

                                      19.

                                      rs1491376197 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        TA>- [Show Flanks]
                                        Chromosome:
                                        2:47460851 (GRCh38)
                                        2:47687990 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:47460850:TA:
                                        Gene:
                                        MSH2 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        -=0./0 (ALFA)
                                        -=0.000004/1 (TOPMED)
                                        -=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1491350663 [Homo sapiens]
                                          Variant type:
                                          SNV:
                                          Alleles:
                                          ->A
                                          Chromosome:
                                          no mapping
                                          Canonical SPDI:

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