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Items: 1 to 20 of 1000

1.

rs1491491226 has merged into rs10553943 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TT>- [Show Flanks]
    Chromosome:
    8:97660883 (GRCh38)
    8:98673111 (GRCh37)
    Canonical SPDI:
    NC_000008.11:97660880:TTTT:TT
    Gene:
    MTDH (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTT=0.076522/1249 (ALFA)
    -=0.075/3 (GENOME_DK)
    -=0.075/45 (NorthernSweden)
    -=0.094099/12246 (GnomAD)
    -=0.152092/974 (1000Genomes)
    -=0.178321/2949 (TOMMO)
    HGVS:
    2.

    rs1491489040 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TT>- [Show Flanks]
      Chromosome:
      8:97660671 (GRCh38)
      8:98672899 (GRCh37)
      Canonical SPDI:
      NC_000008.11:97660668:TTTT:TT
      Gene:
      MTDH (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTT=0.000142/2 (ALFA)
      -=0.000057/15 (TOPMED)
      -=0.0001/14 (GnomAD)
      HGVS:
      3.

      rs1491471509 has merged into rs57318329 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
        Chromosome:
        8:97675955 (GRCh38)
        8:98688183 (GRCh37)
        Canonical SPDI:
        NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97675939:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        MTDH (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTT=0./0 (ALFA)
        -=0.0782/41 (NorthernSweden)
        HGVS:
        4.

        rs1491470871 has merged into rs35043860 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
          Chromosome:
          8:97717632 (GRCh38)
          8:98729860 (GRCh37)
          Canonical SPDI:
          NC_000008.11:97717622:CCCCCCCCCCCC:CCCCCCCCC,NC_000008.11:97717622:CCCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:97717622:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000008.11:97717622:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:97717622:CCCCCCCCCCCC:CCCCCCCCCCCCCC
          Gene:
          MTDH (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          CCCCCCCCCC=0./0 (ALFA)
          -=0.45/18 (GENOME_DK)
          HGVS:
          5.

          rs1491447494 has merged into rs57430782 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
            Chromosome:
            8:97677013 (GRCh38)
            8:98689241 (GRCh37)
            Canonical SPDI:
            NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97677004:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
            Gene:
            MTDH (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAA=0./0 (ALFA)
            HGVS:
            NC_000008.11:g.97677013_97677025del, NC_000008.11:g.97677016_97677025del, NC_000008.11:g.97677018_97677025del, NC_000008.11:g.97677019_97677025del, NC_000008.11:g.97677020_97677025del, NC_000008.11:g.97677021_97677025del, NC_000008.11:g.97677022_97677025del, NC_000008.11:g.97677023_97677025del, NC_000008.11:g.97677024_97677025del, NC_000008.11:g.97677025del, NC_000008.11:g.97677025dup, NC_000008.11:g.97677024_97677025dup, NC_000008.11:g.97677023_97677025dup, NC_000008.11:g.97677022_97677025dup, NC_000008.11:g.97677021_97677025dup, NC_000008.11:g.97677020_97677025dup, NC_000008.11:g.97677019_97677025dup, NC_000008.11:g.97677018_97677025dup, NC_000008.11:g.97677017_97677025dup, NC_000008.11:g.97677016_97677025dup, NC_000008.11:g.97677015_97677025dup, NC_000008.11:g.97677014_97677025dup, NC_000008.11:g.97677013_97677025dup, NC_000008.10:g.98689241_98689253del, NC_000008.10:g.98689244_98689253del, NC_000008.10:g.98689246_98689253del, NC_000008.10:g.98689247_98689253del, NC_000008.10:g.98689248_98689253del, NC_000008.10:g.98689249_98689253del, NC_000008.10:g.98689250_98689253del, NC_000008.10:g.98689251_98689253del, NC_000008.10:g.98689252_98689253del, NC_000008.10:g.98689253del, NC_000008.10:g.98689253dup, NC_000008.10:g.98689252_98689253dup, NC_000008.10:g.98689251_98689253dup, NC_000008.10:g.98689250_98689253dup, NC_000008.10:g.98689249_98689253dup, NC_000008.10:g.98689248_98689253dup, NC_000008.10:g.98689247_98689253dup, NC_000008.10:g.98689246_98689253dup, NC_000008.10:g.98689245_98689253dup, NC_000008.10:g.98689244_98689253dup, NC_000008.10:g.98689243_98689253dup, NC_000008.10:g.98689242_98689253dup, NC_000008.10:g.98689241_98689253dup
            6.

            rs1491415389 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              8:97663748 (GRCh38)
              8:98675976 (GRCh37)
              Canonical SPDI:
              NC_000008.11:97663747:CA:
              Gene:
              MTDH (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00025/3 (ALFA)
              HGVS:
              7.

              rs1491395121 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GT>- [Show Flanks]
                Chromosome:
                8:97670952 (GRCh38)
                8:98683180 (GRCh37)
                Canonical SPDI:
                NC_000008.11:97670950:TGT:T
                Gene:
                MTDH (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0.000368/6 (ALFA)
                -=0.000781/94 (GnomAD)
                -=0.01015/65 (1000Genomes)
                -=0.026164/429 (TOMMO)
                -=0.026923/49 (Korea1K)
                HGVS:
                8.

                rs1491381310 has merged into rs11383714 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                  Chromosome:
                  8:97719501 (GRCh38)
                  8:98731729 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97719492:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                  Gene:
                  MTDH (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAA=0./0 (ALFA)
                  -=0.125/5 (GENOME_DK)
                  -=0.1959/981 (1000Genomes)
                  HGVS:
                  NC_000008.11:g.97719501_97719512del, NC_000008.11:g.97719503_97719512del, NC_000008.11:g.97719504_97719512del, NC_000008.11:g.97719505_97719512del, NC_000008.11:g.97719506_97719512del, NC_000008.11:g.97719507_97719512del, NC_000008.11:g.97719508_97719512del, NC_000008.11:g.97719509_97719512del, NC_000008.11:g.97719510_97719512del, NC_000008.11:g.97719511_97719512del, NC_000008.11:g.97719512del, NC_000008.11:g.97719512dup, NC_000008.11:g.97719511_97719512dup, NC_000008.11:g.97719510_97719512dup, NC_000008.11:g.97719509_97719512dup, NC_000008.11:g.97719508_97719512dup, NC_000008.11:g.97719506_97719512dup, NC_000008.11:g.97719505_97719512dup, NC_000008.11:g.97719504_97719512dup, NC_000008.11:g.97719503_97719512dup, NC_000008.11:g.97719502_97719512dup, NC_000008.11:g.97719501_97719512dup, NC_000008.11:g.97719500_97719512dup, NC_000008.11:g.97719499_97719512dup, NC_000008.10:g.98731729_98731740del, NC_000008.10:g.98731731_98731740del, NC_000008.10:g.98731732_98731740del, NC_000008.10:g.98731733_98731740del, NC_000008.10:g.98731734_98731740del, NC_000008.10:g.98731735_98731740del, NC_000008.10:g.98731736_98731740del, NC_000008.10:g.98731737_98731740del, NC_000008.10:g.98731738_98731740del, NC_000008.10:g.98731739_98731740del, NC_000008.10:g.98731740del, NC_000008.10:g.98731740dup, NC_000008.10:g.98731739_98731740dup, NC_000008.10:g.98731738_98731740dup, NC_000008.10:g.98731737_98731740dup, NC_000008.10:g.98731736_98731740dup, NC_000008.10:g.98731734_98731740dup, NC_000008.10:g.98731733_98731740dup, NC_000008.10:g.98731732_98731740dup, NC_000008.10:g.98731731_98731740dup, NC_000008.10:g.98731730_98731740dup, NC_000008.10:g.98731729_98731740dup, NC_000008.10:g.98731728_98731740dup, NC_000008.10:g.98731727_98731740dup
                  9.

                  rs1491298692 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    8:97710683 (GRCh38)
                    8:98722911 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:97710682:CA:
                    Gene:
                    MTDH (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    -=0.00042/5 (ALFA)
                    -=0.00022/6 (TOMMO)
                    HGVS:
                    10.

                    rs1491262750 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      AT>- [Show Flanks]
                      Chromosome:
                      8:97729087 (GRCh38)
                      8:98741315 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:97729086:AT:
                      Gene:
                      MTDH (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0.00084/10 (ALFA)
                      -=0.00062/4 (1000Genomes)
                      -=0.00143/141 (GnomAD)
                      HGVS:
                      11.

                      rs1491253173 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->G [Show Flanks]
                        Chromosome:
                        8:97670951 (GRCh38)
                        8:98683180 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:97670951:G:GG
                        Gene:
                        MTDH (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        GG=0./0 (ALFA)
                        HGVS:
                        12.

                        rs1491236994 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->AT,ATAT [Show Flanks]
                          Chromosome:
                          8:97660881 (GRCh38)
                          8:98673110 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:97660881:T:TAT,NC_000008.11:97660881:T:TATAT
                          Gene:
                          MTDH (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          TATAT=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1491226365 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->GT [Show Flanks]
                            Chromosome:
                            8:97670953 (GRCh38)
                            8:98683182 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:97670953:T:TGT
                            Gene:
                            MTDH (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TGT=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491208888 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TG>- [Show Flanks]
                              Chromosome:
                              8:97670976 (GRCh38)
                              8:98683204 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:97670975:TG:
                              Gene:
                              MTDH (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0.00017/2 (ALFA)
                              -=0.00194/54 (TOMMO)
                              HGVS:
                              15.

                              rs1491187303 has merged into rs36070456 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                8:97729102 (GRCh38)
                                8:98741330 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                MTDH (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
                                -=0.2426/935 (ALSPAC)
                                T=0.371/1858 (1000Genomes)
                                HGVS:
                                NC_000008.11:g.97729102_97729105del, NC_000008.11:g.97729103_97729105del, NC_000008.11:g.97729104_97729105del, NC_000008.11:g.97729105del, NC_000008.11:g.97729105dup, NC_000008.11:g.97729104_97729105dup, NC_000008.11:g.97729103_97729105dup, NC_000008.11:g.97729094_97729105dup, NC_000008.10:g.98741330_98741333del, NC_000008.10:g.98741331_98741333del, NC_000008.10:g.98741332_98741333del, NC_000008.10:g.98741333del, NC_000008.10:g.98741333dup, NC_000008.10:g.98741332_98741333dup, NC_000008.10:g.98741331_98741333dup, NC_000008.10:g.98741322_98741333dup, NM_178812.4:c.*4432_*4435del, NM_178812.4:c.*4433_*4435del, NM_178812.4:c.*4434_*4435del, NM_178812.4:c.*4435del, NM_178812.4:c.*4435dup, NM_178812.4:c.*4434_*4435dup, NM_178812.4:c.*4433_*4435dup, NM_178812.4:c.*4424_*4435dup, NM_178812.3:c.*4432_*4435del, NM_178812.3:c.*4433_*4435del, NM_178812.3:c.*4434_*4435del, NM_178812.3:c.*4435del, NM_178812.3:c.*4435dup, NM_178812.3:c.*4434_*4435dup, NM_178812.3:c.*4433_*4435dup, NM_178812.3:c.*4424_*4435dup, XM_011517369.4:c.*4432_*4435del, XM_011517369.4:c.*4433_*4435del, XM_011517369.4:c.*4434_*4435del, XM_011517369.4:c.*4435del, XM_011517369.4:c.*4435dup, XM_011517369.4:c.*4434_*4435dup, XM_011517369.4:c.*4433_*4435dup, XM_011517369.4:c.*4424_*4435dup, XM_011517370.4:c.*4432_*4435del, XM_011517370.4:c.*4433_*4435del, XM_011517370.4:c.*4434_*4435del, XM_011517370.4:c.*4435del, XM_011517370.4:c.*4435dup, XM_011517370.4:c.*4434_*4435dup, XM_011517370.4:c.*4433_*4435dup, XM_011517370.4:c.*4424_*4435dup, XM_011517368.3:c.*4432_*4435del, XM_011517368.3:c.*4433_*4435del, XM_011517368.3:c.*4434_*4435del, XM_011517368.3:c.*4435del, XM_011517368.3:c.*4435dup, XM_011517368.3:c.*4434_*4435dup, XM_011517368.3:c.*4433_*4435dup, XM_011517368.3:c.*4424_*4435dup, XM_017013968.3:c.*4432_*4435del, XM_017013968.3:c.*4433_*4435del, XM_017013968.3:c.*4434_*4435del, XM_017013968.3:c.*4435del, XM_017013968.3:c.*4435dup, XM_017013968.3:c.*4434_*4435dup, XM_017013968.3:c.*4433_*4435dup, XM_017013968.3:c.*4424_*4435dup, NM_001363137.1:c.*4432_*4435del, NM_001363137.1:c.*4433_*4435del, NM_001363137.1:c.*4434_*4435del, NM_001363137.1:c.*4435del, NM_001363137.1:c.*4435dup, NM_001363137.1:c.*4434_*4435dup, NM_001363137.1:c.*4433_*4435dup, NM_001363137.1:c.*4424_*4435dup, NM_001363136.1:c.*4432_*4435del, NM_001363136.1:c.*4433_*4435del, NM_001363136.1:c.*4434_*4435del, NM_001363136.1:c.*4435del, NM_001363136.1:c.*4435dup, NM_001363136.1:c.*4434_*4435dup, NM_001363136.1:c.*4433_*4435dup, NM_001363136.1:c.*4424_*4435dup, NM_001363138.1:c.*4432_*4435del, NM_001363138.1:c.*4433_*4435del, NM_001363138.1:c.*4434_*4435del, NM_001363138.1:c.*4435del, NM_001363138.1:c.*4435dup, NM_001363138.1:c.*4434_*4435dup, NM_001363138.1:c.*4433_*4435dup, NM_001363138.1:c.*4424_*4435dup, NM_001363139.1:c.*4432_*4435del, NM_001363139.1:c.*4433_*4435del, NM_001363139.1:c.*4434_*4435del, NM_001363139.1:c.*4435del, NM_001363139.1:c.*4435dup, NM_001363139.1:c.*4434_*4435dup, NM_001363139.1:c.*4433_*4435dup, NM_001363139.1:c.*4424_*4435dup, XM_047422418.1:c.*4432_*4435del, XM_047422418.1:c.*4433_*4435del, XM_047422418.1:c.*4434_*4435del, XM_047422418.1:c.*4435del, XM_047422418.1:c.*4435dup, XM_047422418.1:c.*4434_*4435dup, XM_047422418.1:c.*4433_*4435dup, XM_047422418.1:c.*4424_*4435dup
                                16.

                                rs1491179237 has merged into rs1160758851 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                  Chromosome:
                                  8:97670964 (GRCh38)
                                  8:98683192 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:97670952:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                  Gene:
                                  MTDH (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTTTTTTT=0./0 (ALFA)
                                  HGVS:
                                  NC_000008.11:g.97670964_97670976del, NC_000008.11:g.97670965_97670976del, NC_000008.11:g.97670966_97670976del, NC_000008.11:g.97670968_97670976del, NC_000008.11:g.97670969_97670976del, NC_000008.11:g.97670970_97670976del, NC_000008.11:g.97670972_97670976del, NC_000008.11:g.97670973_97670976del, NC_000008.11:g.97670974_97670976del, NC_000008.11:g.97670975_97670976del, NC_000008.11:g.97670976del, NC_000008.11:g.97670976dup, NC_000008.11:g.97670975_97670976dup, NC_000008.11:g.97670974_97670976dup, NC_000008.11:g.97670973_97670976dup, NC_000008.11:g.97670972_97670976dup, NC_000008.11:g.97670971_97670976dup, NC_000008.11:g.97670970_97670976dup, NC_000008.11:g.97670969_97670976dup, NC_000008.11:g.97670968_97670976dup, NC_000008.11:g.97670967_97670976dup, NC_000008.11:g.97670966_97670976dup, NC_000008.11:g.97670965_97670976dup, NC_000008.11:g.97670964_97670976dup, NC_000008.11:g.97670956_97670976dup, NC_000008.11:g.97670955_97670976dup, NC_000008.10:g.98683192_98683204del, NC_000008.10:g.98683193_98683204del, NC_000008.10:g.98683194_98683204del, NC_000008.10:g.98683196_98683204del, NC_000008.10:g.98683197_98683204del, NC_000008.10:g.98683198_98683204del, NC_000008.10:g.98683200_98683204del, NC_000008.10:g.98683201_98683204del, NC_000008.10:g.98683202_98683204del, NC_000008.10:g.98683203_98683204del, NC_000008.10:g.98683204del, NC_000008.10:g.98683204dup, NC_000008.10:g.98683203_98683204dup, NC_000008.10:g.98683202_98683204dup, NC_000008.10:g.98683201_98683204dup, NC_000008.10:g.98683200_98683204dup, NC_000008.10:g.98683199_98683204dup, NC_000008.10:g.98683198_98683204dup, NC_000008.10:g.98683197_98683204dup, NC_000008.10:g.98683196_98683204dup, NC_000008.10:g.98683195_98683204dup, NC_000008.10:g.98683194_98683204dup, NC_000008.10:g.98683193_98683204dup, NC_000008.10:g.98683192_98683204dup, NC_000008.10:g.98683184_98683204dup, NC_000008.10:g.98683183_98683204dup
                                  17.

                                  rs1491161417 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GA>- [Show Flanks]
                                    Chromosome:
                                    8:97723755 (GRCh38)
                                    8:98735983 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:97723751:AGAGA:AGA
                                    Gene:
                                    MTDH (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    AGA=0./0 (ALFA)
                                    -=0.000098/26 (TOPMED)
                                    -=0.000108/15 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1491127655 [Homo sapiens]
                                      Variant type:
                                      SNV:
                                      Alleles:
                                      ->TTA
                                      Chromosome:
                                      no mapping
                                      Canonical SPDI:
                                      19.

                                      rs1491104618 [Homo sapiens]
                                        Variant type:
                                        DEL
                                        Alleles:
                                        CA>- [Show Flanks]
                                        Chromosome:
                                        8:97677004 (GRCh38)
                                        8:98689232 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:97677003:CA:
                                        Gene:
                                        MTDH (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        -=0./0 (ALFA)
                                        HGVS:
                                        20.

                                        rs1491050988 has merged into rs3073514 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          AAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
                                          Chromosome:
                                          8:97728766 (GRCh38)
                                          8:98740994 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:97728757:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
                                          Gene:
                                          MTDH (Varview)
                                          Functional Consequence:
                                          3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          AAAAAAAAAAA=0./0 (ALFA)
                                          HGVS:
                                          NC_000008.11:g.97728766_97728775del, NC_000008.11:g.97728769_97728775del, NC_000008.11:g.97728770_97728775del, NC_000008.11:g.97728771_97728775del, NC_000008.11:g.97728772_97728775del, NC_000008.11:g.97728773_97728775del, NC_000008.11:g.97728774_97728775del, NC_000008.11:g.97728775del, NC_000008.11:g.97728775dup, NC_000008.11:g.97728774_97728775dup, NC_000008.11:g.97728773_97728775dup, NC_000008.11:g.97728772_97728775dup, NC_000008.11:g.97728771_97728775dup, NC_000008.10:g.98740994_98741003del, NC_000008.10:g.98740997_98741003del, NC_000008.10:g.98740998_98741003del, NC_000008.10:g.98740999_98741003del, NC_000008.10:g.98741000_98741003del, NC_000008.10:g.98741001_98741003del, NC_000008.10:g.98741002_98741003del, NC_000008.10:g.98741003del, NC_000008.10:g.98741003dup, NC_000008.10:g.98741002_98741003dup, NC_000008.10:g.98741001_98741003dup, NC_000008.10:g.98741000_98741003dup, NC_000008.10:g.98740999_98741003dup, NM_178812.4:c.*4096_*4105del, NM_178812.4:c.*4099_*4105del, NM_178812.4:c.*4100_*4105del, NM_178812.4:c.*4101_*4105del, NM_178812.4:c.*4102_*4105del, NM_178812.4:c.*4103_*4105del, NM_178812.4:c.*4104_*4105del, NM_178812.4:c.*4105del, NM_178812.4:c.*4105dup, NM_178812.4:c.*4104_*4105dup, NM_178812.4:c.*4103_*4105dup, NM_178812.4:c.*4102_*4105dup, NM_178812.4:c.*4101_*4105dup, NM_178812.3:c.*4096_*4105del, NM_178812.3:c.*4099_*4105del, NM_178812.3:c.*4100_*4105del, NM_178812.3:c.*4101_*4105del, NM_178812.3:c.*4102_*4105del, NM_178812.3:c.*4103_*4105del, NM_178812.3:c.*4104_*4105del, NM_178812.3:c.*4105del, NM_178812.3:c.*4105dup, NM_178812.3:c.*4104_*4105dup, NM_178812.3:c.*4103_*4105dup, NM_178812.3:c.*4102_*4105dup, NM_178812.3:c.*4101_*4105dup, XM_011517369.4:c.*4096_*4105del, XM_011517369.4:c.*4099_*4105del, XM_011517369.4:c.*4100_*4105del, XM_011517369.4:c.*4101_*4105del, XM_011517369.4:c.*4102_*4105del, XM_011517369.4:c.*4103_*4105del, XM_011517369.4:c.*4104_*4105del, XM_011517369.4:c.*4105del, XM_011517369.4:c.*4105dup, XM_011517369.4:c.*4104_*4105dup, XM_011517369.4:c.*4103_*4105dup, XM_011517369.4:c.*4102_*4105dup, XM_011517369.4:c.*4101_*4105dup, XM_011517370.4:c.*4096_*4105del, XM_011517370.4:c.*4099_*4105del, XM_011517370.4:c.*4100_*4105del, XM_011517370.4:c.*4101_*4105del, XM_011517370.4:c.*4102_*4105del, XM_011517370.4:c.*4103_*4105del, XM_011517370.4:c.*4104_*4105del, XM_011517370.4:c.*4105del, XM_011517370.4:c.*4105dup, XM_011517370.4:c.*4104_*4105dup, XM_011517370.4:c.*4103_*4105dup, XM_011517370.4:c.*4102_*4105dup, XM_011517370.4:c.*4101_*4105dup, XM_011517368.3:c.*4096_*4105del, XM_011517368.3:c.*4099_*4105del, XM_011517368.3:c.*4100_*4105del, XM_011517368.3:c.*4101_*4105del, XM_011517368.3:c.*4102_*4105del, XM_011517368.3:c.*4103_*4105del, XM_011517368.3:c.*4104_*4105del, XM_011517368.3:c.*4105del, XM_011517368.3:c.*4105dup, XM_011517368.3:c.*4104_*4105dup, XM_011517368.3:c.*4103_*4105dup, XM_011517368.3:c.*4102_*4105dup, XM_011517368.3:c.*4101_*4105dup, XM_017013968.3:c.*4096_*4105del, XM_017013968.3:c.*4099_*4105del, XM_017013968.3:c.*4100_*4105del, XM_017013968.3:c.*4101_*4105del, XM_017013968.3:c.*4102_*4105del, XM_017013968.3:c.*4103_*4105del, XM_017013968.3:c.*4104_*4105del, XM_017013968.3:c.*4105del, XM_017013968.3:c.*4105dup, XM_017013968.3:c.*4104_*4105dup, XM_017013968.3:c.*4103_*4105dup, XM_017013968.3:c.*4102_*4105dup, XM_017013968.3:c.*4101_*4105dup, NM_001363137.1:c.*4096_*4105del, NM_001363137.1:c.*4099_*4105del, NM_001363137.1:c.*4100_*4105del, NM_001363137.1:c.*4101_*4105del, NM_001363137.1:c.*4102_*4105del, NM_001363137.1:c.*4103_*4105del, NM_001363137.1:c.*4104_*4105del, NM_001363137.1:c.*4105del, NM_001363137.1:c.*4105dup, NM_001363137.1:c.*4104_*4105dup, NM_001363137.1:c.*4103_*4105dup, NM_001363137.1:c.*4102_*4105dup, NM_001363137.1:c.*4101_*4105dup, NM_001363136.1:c.*4096_*4105del, NM_001363136.1:c.*4099_*4105del, NM_001363136.1:c.*4100_*4105del, NM_001363136.1:c.*4101_*4105del, NM_001363136.1:c.*4102_*4105del, NM_001363136.1:c.*4103_*4105del, NM_001363136.1:c.*4104_*4105del, NM_001363136.1:c.*4105del, NM_001363136.1:c.*4105dup, NM_001363136.1:c.*4104_*4105dup, NM_001363136.1:c.*4103_*4105dup, NM_001363136.1:c.*4102_*4105dup, NM_001363136.1:c.*4101_*4105dup, NM_001363138.1:c.*4096_*4105del, NM_001363138.1:c.*4099_*4105del, NM_001363138.1:c.*4100_*4105del, NM_001363138.1:c.*4101_*4105del, NM_001363138.1:c.*4102_*4105del, NM_001363138.1:c.*4103_*4105del, NM_001363138.1:c.*4104_*4105del, NM_001363138.1:c.*4105del, NM_001363138.1:c.*4105dup, NM_001363138.1:c.*4104_*4105dup, NM_001363138.1:c.*4103_*4105dup, NM_001363138.1:c.*4102_*4105dup, NM_001363138.1:c.*4101_*4105dup, NM_001363139.1:c.*4096_*4105del, NM_001363139.1:c.*4099_*4105del, NM_001363139.1:c.*4100_*4105del, NM_001363139.1:c.*4101_*4105del, NM_001363139.1:c.*4102_*4105del, NM_001363139.1:c.*4103_*4105del, NM_001363139.1:c.*4104_*4105del, NM_001363139.1:c.*4105del, NM_001363139.1:c.*4105dup, NM_001363139.1:c.*4104_*4105dup, NM_001363139.1:c.*4103_*4105dup, NM_001363139.1:c.*4102_*4105dup, NM_001363139.1:c.*4101_*4105dup, XM_047422418.1:c.*4096_*4105del, XM_047422418.1:c.*4099_*4105del, XM_047422418.1:c.*4100_*4105del, XM_047422418.1:c.*4101_*4105del, XM_047422418.1:c.*4102_*4105del, XM_047422418.1:c.*4103_*4105del, XM_047422418.1:c.*4104_*4105del, XM_047422418.1:c.*4105del, XM_047422418.1:c.*4105dup, XM_047422418.1:c.*4104_*4105dup, XM_047422418.1:c.*4103_*4105dup, XM_047422418.1:c.*4102_*4105dup, XM_047422418.1:c.*4101_*4105dup

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