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1.

rs1491415255 has merged into rs1002543941 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
    Chromosome:
    2:95114131 (GRCh38)
    2:95779876 (GRCh37)
    Canonical SPDI:
    NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
    Gene:
    MRPS5 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    AAAAAAAAAA=0./0 (ALFA)
    HGVS:
    NC_000002.12:g.95114131_95114144del, NC_000002.12:g.95114132_95114144del, NC_000002.12:g.95114133_95114144del, NC_000002.12:g.95114134_95114144del, NC_000002.12:g.95114135_95114144del, NC_000002.12:g.95114136_95114144del, NC_000002.12:g.95114137_95114144del, NC_000002.12:g.95114138_95114144del, NC_000002.12:g.95114140_95114144del, NC_000002.12:g.95114141_95114144del, NC_000002.12:g.95114142_95114144del, NC_000002.12:g.95114143_95114144del, NC_000002.12:g.95114144del, NC_000002.12:g.95114144dup, NC_000002.12:g.95114143_95114144dup, NC_000002.12:g.95114142_95114144dup, NC_000002.12:g.95114141_95114144dup, NC_000002.12:g.95114130_95114144dup, NC_000002.11:g.95779876_95779889del, NC_000002.11:g.95779877_95779889del, NC_000002.11:g.95779878_95779889del, NC_000002.11:g.95779879_95779889del, NC_000002.11:g.95779880_95779889del, NC_000002.11:g.95779881_95779889del, NC_000002.11:g.95779882_95779889del, NC_000002.11:g.95779883_95779889del, NC_000002.11:g.95779885_95779889del, NC_000002.11:g.95779886_95779889del, NC_000002.11:g.95779887_95779889del, NC_000002.11:g.95779888_95779889del, NC_000002.11:g.95779889del, NC_000002.11:g.95779889dup, NC_000002.11:g.95779888_95779889dup, NC_000002.11:g.95779887_95779889dup, NC_000002.11:g.95779886_95779889dup, NC_000002.11:g.95779875_95779889dup
    2.

    rs1491320134 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GT>- [Show Flanks]
      Chromosome:
      2:95099383 (GRCh38)
      2:95765128 (GRCh37)
      Canonical SPDI:
      NC_000002.12:95099382:GT:
      Gene:
      MRPS5 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0.0002/1 (ALFA)
      HGVS:
      3.

      rs1491282320 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        CA>- [Show Flanks]
        Chromosome:
        2:95120075 (GRCh38)
        2:95785820 (GRCh37)
        Canonical SPDI:
        NC_000002.12:95120071:ACACA:ACA
        Gene:
        MRPS5 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        ACA=0.000427/6 (ALFA)
        -=0.000135/19 (GnomAD)
        -=0.000174/46 (TOPMED)
        HGVS:
        4.

        rs1491272337 has merged into rs772096630 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
          Chromosome:
          2:95098935 (GRCh38)
          2:95764680 (GRCh37)
          Canonical SPDI:
          NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
          Gene:
          MRPS5 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          TTTTTTTTTTTTTT=0./0 (ALFA)
          T=0.04882/29 (NorthernSweden)
          HGVS:
          5.

          rs1491208975 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->C [Show Flanks]
            Chromosome:
            2:95120072 (GRCh38)
            2:95785818 (GRCh37)
            Canonical SPDI:
            NC_000002.12:95120072:C:CC
            Gene:
            MRPS5 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CC=0./0 (ALFA)
            C=0.000014/2 (GnomAD)
            C=0.000019/5 (TOPMED)
            HGVS:
            6.

            rs1491207407 has merged into rs368636448 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTT>-,T,TTT,TTTTT [Show Flanks]
              Chromosome:
              2:95099388 (GRCh38)
              2:95765133 (GRCh37)
              Canonical SPDI:
              NC_000002.12:95099383:TTTTTTTT:TTTT,NC_000002.12:95099383:TTTTTTTT:TTTTT,NC_000002.12:95099383:TTTTTTTT:TTTTTTT,NC_000002.12:95099383:TTTTTTTT:TTTTTTTTT
              Gene:
              MRPS5 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTT=0./0 (ALFA)
              -=0.004/20 (1000Genomes)
              HGVS:
              7.

              rs1491120658 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                CA>- [Show Flanks]
                Chromosome:
                2:95114120 (GRCh38)
                2:95779865 (GRCh37)
                Canonical SPDI:
                NC_000002.12:95114119:CA:
                Gene:
                MRPS5 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                HGVS:
                8.

                rs1490958611 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  2:95093839 (GRCh38)
                  2:95759584 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:95093838:C:G
                  Gene:
                  MRPS5 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  9.

                  rs1490958171 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:95094005 (GRCh38)
                    2:95759750 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:95094004:G:A
                    Gene:
                    MRPS5 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    10.

                    rs1490808075 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C,G [Show Flanks]
                      Chromosome:
                      2:95116878 (GRCh38)
                      2:95782623 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:95116877:T:C,NC_000002.12:95116877:T:G
                      Gene:
                      MRPS5 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      HGVS:
                      11.

                      rs1490657455 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        2:95112779 (GRCh38)
                        2:95778524 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:95112778:C:G,NC_000002.12:95112778:C:T
                        Gene:
                        MRPS5 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000857/14 (ALFA)
                        T=0.000079/11 (GnomAD)
                        T=0.000312/2 (1000Genomes)
                        T=0.000672/19 (TOMMO)
                        T=0.002679/12 (Estonian)
                        HGVS:
                        12.

                        rs1490646840 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:95100154 (GRCh38)
                          2:95765899 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:95100153:C:G
                          Gene:
                          MRPS5 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          HGVS:
                          13.

                          rs1490612193 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            2:95084945 (GRCh38)
                            2:95750690 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:95084944:T:C
                            Gene:
                            MRPS5 (Varview)
                            Functional Consequence:
                            500B_downstream_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            14.

                            rs1490500315 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              2:95108139 (GRCh38)
                              2:95773884 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:95108138:C:T
                              Gene:
                              MRPS5 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              15.

                              rs1490468628 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                2:95093291 (GRCh38)
                                2:95759036 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:95093290:C:T
                                Gene:
                                MRPS5 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0.000071/1 (ALFA)
                                T=0.000011/3 (TOPMED)
                                HGVS:
                                16.

                                rs1490456745 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  2:95095004 (GRCh38)
                                  2:95760749 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:95095003:A:T
                                  Gene:
                                  MRPS5 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000021/3 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1490207863 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>T [Show Flanks]
                                    Chromosome:
                                    2:95088068 (GRCh38)
                                    2:95753813 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:95088067:A:T
                                    Gene:
                                    MRPS5 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0.000071/1 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490196779 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:95088957 (GRCh38)
                                      2:95754702 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:95088956:C:T
                                      Gene:
                                      MRPS5 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.00034/1 (KOREAN)
                                      HGVS:
                                      19.

                                      rs1490165295 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        2:95090585 (GRCh38)
                                        2:95756330 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:95090584:C:T
                                        Gene:
                                        MRPS5 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0.0002/1 (ALFA)
                                        T=0.0002/1 (Estonian)
                                        HGVS:
                                        20.

                                        rs1490120095 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:95095369 (GRCh38)
                                          2:95761114 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:95095368:C:T
                                          Gene:
                                          MRPS5 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000019/5 (TOPMED)
                                          T=0.000021/3 (GnomAD)
                                          HGVS:

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