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Items: 1 to 20 of 11849

1.

rs1491567439 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C [Show Flanks]
    Chromosome:
    16:70279671 (GRCh38)
    16:70313575 (GRCh37)
    Canonical SPDI:
    NC_000016.10:70279671::C
    Gene:
    AARS1 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000011/3 (TOPMED)
    HGVS:

    2.

    rs1491512617 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->GAAA,GAAAA [Show Flanks]
      Chromosome:
      16:70287254 (GRCh38)
      16:70321158 (GRCh37)
      Canonical SPDI:
      NC_000016.10:70287254:A:AGAAA,NC_000016.10:70287254:A:AGAAAA
      Gene:
      AARS1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AGAAAA=0./0 (ALFA)
      AGAAA=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1491483888 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->AAAAAAACA [Show Flanks]
        Chromosome:
        16:70269362 (GRCh38)
        16:70303266 (GRCh37)
        Canonical SPDI:
        NC_000016.10:70269362:A:AAAAAAAACA
        Gene:
        AARS1 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency
        MAF:
        AAAAAAAAC=0.000009/1 (GnomAD)
        HGVS:

        4.

        rs1491452320 has merged into rs367753826 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
          Chromosome:
          16:70279680 (GRCh38)
          16:70313583 (GRCh37)
          Canonical SPDI:
          NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
          Gene:
          AARS1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AAAAAAAAAA=0./0 (ALFA)
          HGVS:
          NC_000016.10:g.70279680_70279687del, NC_000016.10:g.70279681_70279687del, NC_000016.10:g.70279682_70279687del, NC_000016.10:g.70279683_70279687del, NC_000016.10:g.70279684_70279687del, NC_000016.10:g.70279686_70279687del, NC_000016.10:g.70279687del, NC_000016.10:g.70279687dup, NC_000016.10:g.70279686_70279687dup, NC_000016.10:g.70279685_70279687dup, NC_000016.10:g.70279684_70279687dup, NC_000016.10:g.70279683_70279687dup, NC_000016.10:g.70279681_70279687dup, NC_000016.10:g.70279680_70279687dup, NC_000016.10:g.70279679_70279687dup, NC_000016.10:g.70279678_70279687dup, NC_000016.10:g.70279677_70279687dup, NC_000016.10:g.70279676_70279687dup, NC_000016.10:g.70279675_70279687dup, NC_000016.10:g.70279674_70279687dup, NC_000016.10:g.70279673_70279687dup, NC_000016.10:g.70279672_70279687dup, NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAA, NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.70313583_70313590del, NC_000016.9:g.70313584_70313590del, NC_000016.9:g.70313585_70313590del, NC_000016.9:g.70313586_70313590del, NC_000016.9:g.70313587_70313590del, NC_000016.9:g.70313589_70313590del, NC_000016.9:g.70313590del, NC_000016.9:g.70313590dup, NC_000016.9:g.70313589_70313590dup, NC_000016.9:g.70313588_70313590dup, NC_000016.9:g.70313587_70313590dup, NC_000016.9:g.70313586_70313590dup, NC_000016.9:g.70313584_70313590dup, NC_000016.9:g.70313583_70313590dup, NC_000016.9:g.70313582_70313590dup, NC_000016.9:g.70313581_70313590dup, NC_000016.9:g.70313580_70313590dup, NC_000016.9:g.70313579_70313590dup, NC_000016.9:g.70313578_70313590dup, NC_000016.9:g.70313577_70313590dup, NC_000016.9:g.70313576_70313590dup, NC_000016.9:g.70313575_70313590dup, NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAA, NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAAAA, NG_023191.1:g.14832_14839del, NG_023191.1:g.14833_14839del, NG_023191.1:g.14834_14839del, NG_023191.1:g.14835_14839del, NG_023191.1:g.14836_14839del, NG_023191.1:g.14838_14839del, NG_023191.1:g.14839del, NG_023191.1:g.14839dup, NG_023191.1:g.14838_14839dup, NG_023191.1:g.14837_14839dup, NG_023191.1:g.14836_14839dup, NG_023191.1:g.14835_14839dup, NG_023191.1:g.14833_14839dup, NG_023191.1:g.14832_14839dup, NG_023191.1:g.14831_14839dup, NG_023191.1:g.14830_14839dup, NG_023191.1:g.14829_14839dup, NG_023191.1:g.14828_14839dup, NG_023191.1:g.14827_14839dup, NG_023191.1:g.14826_14839dup, NG_023191.1:g.14825_14839dup, NG_023191.1:g.14824_14839dup, NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTT, NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTTTT

          5.

          rs1491428948 [Homo sapiens]
            Variant type:
            DEL
            Alleles:
            CA>- [Show Flanks]
            Chromosome:
            16:70279350 (GRCh38)
            16:70313253 (GRCh37)
            Canonical SPDI:
            NC_000016.10:70279349:CA:
            Gene:
            AARS1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa
            MAF:
            -=0./0 (ALFA)
            HGVS:

            6.

            rs1491394821 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              CT>- [Show Flanks]
              Chromosome:
              16:70288098 (GRCh38)
              16:70322001 (GRCh37)
              Canonical SPDI:
              NC_000016.10:70288096:TCT:T
              Gene:
              AARS1 (Varview), DDX19B (Varview)
              Functional Consequence:
              2KB_upstream_variant,intron_variant,upstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0.000084/1 (ALFA)
              -=0.000486/53 (GnomAD)
              HGVS:

              7.

              rs1491388099 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->C [Show Flanks]
                Chromosome:
                16:70288097 (GRCh38)
                16:70322001 (GRCh37)
                Canonical SPDI:
                NC_000016.10:70288097:C:CC
                Gene:
                AARS1 (Varview), DDX19B (Varview)
                Functional Consequence:
                2KB_upstream_variant,intron_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CC=0./0 (ALFA)
                C=0.00421/466 (GnomAD)
                HGVS:

                8.

                rs1491287420 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  16:70287254 (GRCh38)
                  16:70321157 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:70287253:CA:
                  Gene:
                  AARS1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  -=0.00034/4 (ALFA)
                  HGVS:

                  9.

                  rs1491236439 has merged into rs57438636 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    16:70279360 (GRCh38)
                    16:70313263 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:70279350:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    AARS1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAA=0./0 (ALFA)
                    AAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
                    -=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000016.10:g.70279360_70279376del, NC_000016.10:g.70279361_70279376del, NC_000016.10:g.70279362_70279376del, NC_000016.10:g.70279363_70279376del, NC_000016.10:g.70279364_70279376del, NC_000016.10:g.70279365_70279376del, NC_000016.10:g.70279366_70279376del, NC_000016.10:g.70279367_70279376del, NC_000016.10:g.70279368_70279376del, NC_000016.10:g.70279369_70279376del, NC_000016.10:g.70279370_70279376del, NC_000016.10:g.70279371_70279376del, NC_000016.10:g.70279372_70279376del, NC_000016.10:g.70279373_70279376del, NC_000016.10:g.70279374_70279376del, NC_000016.10:g.70279375_70279376del, NC_000016.10:g.70279376del, NC_000016.10:g.70279376dup, NC_000016.10:g.70279375_70279376dup, NC_000016.10:g.70279374_70279376dup, NC_000016.10:g.70279373_70279376dup, NC_000016.10:g.70279370_70279376dup, NC_000016.9:g.70313263_70313279del, NC_000016.9:g.70313264_70313279del, NC_000016.9:g.70313265_70313279del, NC_000016.9:g.70313266_70313279del, NC_000016.9:g.70313267_70313279del, NC_000016.9:g.70313268_70313279del, NC_000016.9:g.70313269_70313279del, NC_000016.9:g.70313270_70313279del, NC_000016.9:g.70313271_70313279del, NC_000016.9:g.70313272_70313279del, NC_000016.9:g.70313273_70313279del, NC_000016.9:g.70313274_70313279del, NC_000016.9:g.70313275_70313279del, NC_000016.9:g.70313276_70313279del, NC_000016.9:g.70313277_70313279del, NC_000016.9:g.70313278_70313279del, NC_000016.9:g.70313279del, NC_000016.9:g.70313279dup, NC_000016.9:g.70313278_70313279dup, NC_000016.9:g.70313277_70313279dup, NC_000016.9:g.70313276_70313279dup, NC_000016.9:g.70313273_70313279dup, NG_023191.1:g.15143_15159del, NG_023191.1:g.15144_15159del, NG_023191.1:g.15145_15159del, NG_023191.1:g.15146_15159del, NG_023191.1:g.15147_15159del, NG_023191.1:g.15148_15159del, NG_023191.1:g.15149_15159del, NG_023191.1:g.15150_15159del, NG_023191.1:g.15151_15159del, NG_023191.1:g.15152_15159del, NG_023191.1:g.15153_15159del, NG_023191.1:g.15154_15159del, NG_023191.1:g.15155_15159del, NG_023191.1:g.15156_15159del, NG_023191.1:g.15157_15159del, NG_023191.1:g.15158_15159del, NG_023191.1:g.15159del, NG_023191.1:g.15159dup, NG_023191.1:g.15158_15159dup, NG_023191.1:g.15157_15159dup, NG_023191.1:g.15156_15159dup, NG_023191.1:g.15153_15159dup

                    10.

                    rs1491093299 has merged into rs756891346 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCCCCCC,CCCCCCCCCCCGCCCCCCCCC,CCCGCCCCCCCCGCCCCCCCCC [Show Flanks]
                      Chromosome:
                      16:70289746 (GRCh38)
                      16:70323649 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:70289738:CCCCCCCCC:CCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCCCCCCCCCGCCCCCCCCC,NC_000016.10:70289738:CCCCCCCCC:CCCCCCCCCCGCCCCCCCCGCCCCCCCCC
                      Gene:
                      AARS1 (Varview), DDX19B (Varview)
                      Functional Consequence:
                      upstream_transcript_variant,2KB_upstream_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      CCCCCCCCCCCC=0./0 (ALFA)
                      HGVS:
                      NC_000016.10:g.70289746_70289747del, NC_000016.10:g.70289747del, NC_000016.10:g.70289747dup, NC_000016.10:g.70289746_70289747dup, NC_000016.10:g.70289745_70289747dup, NC_000016.10:g.70289744_70289747dup, NC_000016.10:g.70289743_70289747dup, NC_000016.10:g.70289742_70289747dup, NC_000016.10:g.70289740_70289747dup, NC_000016.10:g.70289739_70289747dup, NC_000016.10:g.70289747_70289748insCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289747_70289748insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.10:g.70289739_70289747C[48]GCCCCCCCCC[1], NC_000016.10:g.70289739_70289747C[18]GCCCCCCCCC[1], NC_000016.10:g.70289739_70289747C[10]GCCCCCCCC[2]C[1], NC_000016.9:g.70323649_70323650del, NC_000016.9:g.70323650del, NC_000016.9:g.70323650dup, NC_000016.9:g.70323649_70323650dup, NC_000016.9:g.70323648_70323650dup, NC_000016.9:g.70323647_70323650dup, NC_000016.9:g.70323646_70323650dup, NC_000016.9:g.70323645_70323650dup, NC_000016.9:g.70323643_70323650dup, NC_000016.9:g.70323642_70323650dup, NC_000016.9:g.70323650_70323651insCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323650_70323651insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000016.9:g.70323642_70323650C[48]GCCCCCCCCC[1], NC_000016.9:g.70323642_70323650C[18]GCCCCCCCCC[1], NC_000016.9:g.70323642_70323650C[10]GCCCCCCCC[2]C[1], NG_023191.1:g.4770_4771del, NG_023191.1:g.4771del, NG_023191.1:g.4771dup, NG_023191.1:g.4770_4771dup, NG_023191.1:g.4769_4771dup, NG_023191.1:g.4768_4771dup, NG_023191.1:g.4767_4771dup, NG_023191.1:g.4766_4771dup, NG_023191.1:g.4764_4771dup, NG_023191.1:g.4763_4771dup, NG_023191.1:g.4771_4772insGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4771_4772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_023191.1:g.4763_4771G[9]CGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG[1], NG_023191.1:g.4763_4771G[9]CGGGGGGGGGGGGGGGGGG[1], NG_023191.1:g.4763_4771G[9]CGGGGGGGG[2]GG[1]

                      11.

                      rs1490961145 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        16:70258063 (GRCh38)
                        16:70291966 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:70258062:G:A
                        Gene:
                        AARS1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        HGVS:

                        12.

                        rs1490959430 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          16:70287083 (GRCh38)
                          16:70320986 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:70287082:C:G
                          Gene:
                          AARS1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          G=0.000007/1 (GnomAD)
                          HGVS:

                          13.

                          rs1490866728 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            16:70287238 (GRCh38)
                            16:70321141 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:70287237:G:A
                            Gene:
                            AARS1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.00031/5 (ALFA)
                            A=0.00003/3 (GnomAD)
                            A=0.00046/8 (TOMMO)
                            HGVS:

                            14.

                            rs1490745583 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TATATATAT [Show Flanks]
                              Chromosome:
                              16:70273706 (GRCh38)
                              16:70307610 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:70273706::TATATATAT
                              Gene:
                              AARS1 (Varview)
                              Functional Consequence:
                              intron_variant
                              HGVS:

                              15.

                              rs1490711565 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G [Show Flanks]
                                Chromosome:
                                16:70264324 (GRCh38)
                                16:70298227 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:70264323:C:A,NC_000016.10:70264323:C:G
                                Gene:
                                AARS1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1490615513 has merged into rs1212525245 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  T>-,TT [Show Flanks]
                                  Chromosome:
                                  16:70280229 (GRCh38)
                                  16:70314132 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:70280228:TTTTTT:TTTTT,NC_000016.10:70280228:TTTTTT:TTTTTTT
                                  Gene:
                                  AARS1 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TTTTTTT=0./0 (ALFA)
                                  -=0.00005/7 (GnomAD)
                                  -=0.000312/2 (1000Genomes)
                                  HGVS:

                                  17.

                                  rs1490543880 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    C>- [Show Flanks]
                                    Chromosome:
                                    16:70280937 (GRCh38)
                                    16:70314840 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:70280936:CCC:CC
                                    Gene:
                                    AARS1 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    CC=0./0 (ALFA)
                                    HGVS:

                                    18.

                                    rs1490531171 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      16:70291429 (GRCh38)
                                      16:70325332 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:70291428:A:C
                                      Gene:
                                      AARS1 (Varview), DDX19B (Varview)
                                      Functional Consequence:
                                      2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000011/3 (TOPMED)
                                      C=0.000021/3 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490474677 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        16:70288101 (GRCh38)
                                        16:70322004 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:70288100:T:C
                                        Gene:
                                        AARS1 (Varview), DDX19B (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,intron_variant,upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000107/13 (GnomAD)
                                        C=0.000349/6 (TOMMO)
                                        C=0.00137/4 (KOREAN)
                                        T=0.5/1 (SGDP_PRJ)
                                        HGVS:

                                        20.

                                        rs1490397633 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          16:70262512 (GRCh38)
                                          16:70296415 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:70262511:G:A
                                          Gene:
                                          AARS1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:

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