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1.

rs1491573908 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->C,CTC,CTCTC,CTCTCTC,CTCTCTCTC [Show Flanks]
    Chromosome:
    8:53889413 (GRCh38)
    8:54801974 (GRCh37)
    Canonical SPDI:
    NC_000008.11:53889413::C,NC_000008.11:53889413::CTC,NC_000008.11:53889413::CTCTC,NC_000008.11:53889413::CTCTCTC,NC_000008.11:53889413::CTCTCTCTC
    Gene:
    RGS20 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    CTC=0./0 (ALFA)
    C=0.00016/2 (TOMMO)
    C=0.00056/1 (Korea1K)
    HGVS:

    2.

    rs1491536262 has merged into rs34316630 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      8:53889424 (GRCh38)
      8:54801984 (GRCh37)
      Canonical SPDI:
      NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53889412:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      RGS20 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTTT=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.53889424_53889451del, NC_000008.11:g.53889425_53889451del, NC_000008.11:g.53889426_53889451del, NC_000008.11:g.53889427_53889451del, NC_000008.11:g.53889428_53889451del, NC_000008.11:g.53889429_53889451del, NC_000008.11:g.53889430_53889451del, NC_000008.11:g.53889431_53889451del, NC_000008.11:g.53889432_53889451del, NC_000008.11:g.53889433_53889451del, NC_000008.11:g.53889434_53889451del, NC_000008.11:g.53889435_53889451del, NC_000008.11:g.53889436_53889451del, NC_000008.11:g.53889437_53889451del, NC_000008.11:g.53889438_53889451del, NC_000008.11:g.53889439_53889451del, NC_000008.11:g.53889440_53889451del, NC_000008.11:g.53889441_53889451del, NC_000008.11:g.53889442_53889451del, NC_000008.11:g.53889443_53889451del, NC_000008.11:g.53889444_53889451del, NC_000008.11:g.53889445_53889451del, NC_000008.11:g.53889446_53889451del, NC_000008.11:g.53889447_53889451del, NC_000008.11:g.53889448_53889451del, NC_000008.11:g.53889449_53889451del, NC_000008.11:g.53889450_53889451del, NC_000008.11:g.53889451del, NC_000008.11:g.53889451dup, NC_000008.11:g.53889450_53889451dup, NC_000008.11:g.53889449_53889451dup, NC_000008.11:g.53889445_53889451dup, NC_000008.11:g.53889444_53889451dup, NC_000008.11:g.53889441_53889451dup, NC_000008.11:g.53889440_53889451dup, NC_000008.11:g.53889439_53889451dup, NC_000008.11:g.53889438_53889451dup, NC_000008.11:g.53889437_53889451dup, NC_000008.11:g.53889435_53889451dup, NC_000008.11:g.53889434_53889451dup, NC_000008.11:g.53889433_53889451dup, NC_000008.11:g.53889431_53889451dup, NC_000008.11:g.53889430_53889451dup, NC_000008.11:g.53889429_53889451dup, NC_000008.11:g.53889428_53889451dup, NC_000008.11:g.53889427_53889451dup, NC_000008.11:g.53889424_53889451dup, NC_000008.11:g.53889422_53889451dup, NC_000008.11:g.53889421_53889451dup, NC_000008.11:g.53889420_53889451dup, NC_000008.11:g.53889451_53889452insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.54801984_54802011del, NC_000008.10:g.54801985_54802011del, NC_000008.10:g.54801986_54802011del, NC_000008.10:g.54801987_54802011del, NC_000008.10:g.54801988_54802011del, NC_000008.10:g.54801989_54802011del, NC_000008.10:g.54801990_54802011del, NC_000008.10:g.54801991_54802011del, NC_000008.10:g.54801992_54802011del, NC_000008.10:g.54801993_54802011del, NC_000008.10:g.54801994_54802011del, NC_000008.10:g.54801995_54802011del, NC_000008.10:g.54801996_54802011del, NC_000008.10:g.54801997_54802011del, NC_000008.10:g.54801998_54802011del, NC_000008.10:g.54801999_54802011del, NC_000008.10:g.54802000_54802011del, NC_000008.10:g.54802001_54802011del, NC_000008.10:g.54802002_54802011del, NC_000008.10:g.54802003_54802011del, NC_000008.10:g.54802004_54802011del, NC_000008.10:g.54802005_54802011del, NC_000008.10:g.54802006_54802011del, NC_000008.10:g.54802007_54802011del, NC_000008.10:g.54802008_54802011del, NC_000008.10:g.54802009_54802011del, NC_000008.10:g.54802010_54802011del, NC_000008.10:g.54802011del, NC_000008.10:g.54802011dup, NC_000008.10:g.54802010_54802011dup, NC_000008.10:g.54802009_54802011dup, NC_000008.10:g.54802005_54802011dup, NC_000008.10:g.54802004_54802011dup, NC_000008.10:g.54802001_54802011dup, NC_000008.10:g.54802000_54802011dup, NC_000008.10:g.54801999_54802011dup, NC_000008.10:g.54801998_54802011dup, NC_000008.10:g.54801997_54802011dup, NC_000008.10:g.54801995_54802011dup, NC_000008.10:g.54801994_54802011dup, NC_000008.10:g.54801993_54802011dup, NC_000008.10:g.54801991_54802011dup, NC_000008.10:g.54801990_54802011dup, NC_000008.10:g.54801989_54802011dup, NC_000008.10:g.54801988_54802011dup, NC_000008.10:g.54801987_54802011dup, NC_000008.10:g.54801984_54802011dup, NC_000008.10:g.54801982_54802011dup, NC_000008.10:g.54801981_54802011dup, NC_000008.10:g.54801980_54802011dup, NC_000008.10:g.54802011_54802012insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491529134 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CA [Show Flanks]
        Chromosome:
        8:53948331 (GRCh38)
        8:54860892 (GRCh37)
        Canonical SPDI:
        NC_000008.11:53948331:A:ACA
        Gene:
        RGS20 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,intron_variant
        Validated:
        by frequency
        MAF:
        AC=0.000008/1 (GnomAD)
        HGVS:

        4.

        rs1491509027 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->AA [Show Flanks]
          Chromosome:
          8:53948553 (GRCh38)
          8:54861114 (GRCh37)
          Canonical SPDI:
          NC_000008.11:53948553::AA
          Gene:
          RGS20 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          AA=0.00632/75 (ALFA)
          AA=0.00035/19 (GnomAD)
          HGVS:

          5.

          rs1491506299 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TA>- [Show Flanks]
            Chromosome:
            8:53948399 (GRCh38)
            8:54860959 (GRCh37)
            Canonical SPDI:
            NC_000008.11:53948397:ATA:A
            Gene:
            RGS20 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000796/13 (ALFA)
            -=0.000071/2 (TOMMO)
            -=0.00069/89 (GnomAD)
            HGVS:

            6.

            rs1491452031 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              GT>- [Show Flanks]
              Chromosome:
              8:53927201 (GRCh38)
              8:54839761 (GRCh37)
              Canonical SPDI:
              NC_000008.11:53927200:GT:
              Gene:
              RGS20 (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              -=0./0 (ALFA)
              -=0.00025/4 (TOMMO)
              HGVS:

              7.

              rs1491440781 has merged into rs1178436696 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                TATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
                Chromosome:
                8:53909220 (GRCh38)
                8:54821780 (GRCh37)
                Canonical SPDI:
                NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000008.11:53909209:TATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
                Gene:
                RGS20 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TATATATATA=0./0 (ALFA)
                HGVS:
                NC_000008.11:g.53909210TA[5], NC_000008.11:g.53909210TA[6], NC_000008.11:g.53909210TA[7], NC_000008.11:g.53909210TA[8], NC_000008.11:g.53909210TA[9], NC_000008.11:g.53909210TA[10], NC_000008.11:g.53909210TA[11], NC_000008.11:g.53909210TA[12], NC_000008.11:g.53909210TA[13], NC_000008.11:g.53909210TA[14], NC_000008.11:g.53909210TA[15], NC_000008.11:g.53909210TA[16], NC_000008.11:g.53909210TA[17], NC_000008.11:g.53909210TA[18], NC_000008.11:g.53909210TA[19], NC_000008.11:g.53909210TA[20], NC_000008.11:g.53909210TA[21], NC_000008.11:g.53909210TA[22], NC_000008.11:g.53909210TA[24], NC_000008.11:g.53909210TA[25], NC_000008.11:g.53909210TA[26], NC_000008.11:g.53909210TA[27], NC_000008.11:g.53909210TA[28], NC_000008.11:g.53909210TA[29], NC_000008.11:g.53909210TA[31], NC_000008.10:g.54821770TA[5], NC_000008.10:g.54821770TA[6], NC_000008.10:g.54821770TA[7], NC_000008.10:g.54821770TA[8], NC_000008.10:g.54821770TA[9], NC_000008.10:g.54821770TA[10], NC_000008.10:g.54821770TA[11], NC_000008.10:g.54821770TA[12], NC_000008.10:g.54821770TA[13], NC_000008.10:g.54821770TA[14], NC_000008.10:g.54821770TA[15], NC_000008.10:g.54821770TA[16], NC_000008.10:g.54821770TA[17], NC_000008.10:g.54821770TA[18], NC_000008.10:g.54821770TA[19], NC_000008.10:g.54821770TA[20], NC_000008.10:g.54821770TA[21], NC_000008.10:g.54821770TA[22], NC_000008.10:g.54821770TA[24], NC_000008.10:g.54821770TA[25], NC_000008.10:g.54821770TA[26], NC_000008.10:g.54821770TA[27], NC_000008.10:g.54821770TA[28], NC_000008.10:g.54821770TA[29], NC_000008.10:g.54821770TA[31]

                8.

                rs1491422517 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  TG>- [Show Flanks]
                  Chromosome:
                  8:53948584 (GRCh38)
                  8:54861144 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:53948583:TG:
                  Gene:
                  RGS20 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  -=0.01492/961 (GnomAD)
                  HGVS:

                  9.

                  rs1491312735 has merged into rs553191513 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                    Chromosome:
                    8:53927214 (GRCh38)
                    8:54839774 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53927201:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                    Gene:
                    RGS20 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTTTTTTTTTTTT=0./0 (ALFA)
                    -=0.26977/1351 (1000Genomes)
                    -=0.325/13 (GENOME_DK)
                    HGVS:

                    10.

                    rs1491300679 [Homo sapiens]
                      Variant type:
                      INS
                      Alleles:
                      ->CACAG [Show Flanks]
                      Chromosome:
                      8:53948398 (GRCh38)
                      8:54860959 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:53948398::CACAG
                      Gene:
                      RGS20 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      CACAG=0.000142/2 (TOMMO)
                      CACAG=0.000311/41 (GnomAD)
                      HGVS:

                      11.

                      rs1491240899 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->TAT,TG,TGATAT [Show Flanks]
                        Chromosome:
                        8:53948211 (GRCh38)
                        8:54860772 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:53948211::TAT,NC_000008.11:53948211::TG,NC_000008.11:53948211::TGATAT
                        Gene:
                        RGS20 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        TG=0.00059/7 (ALFA)
                        TG=0.00011/2 (TOMMO)
                        HGVS:

                        12.

                        rs1491214117 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          TG>- [Show Flanks]
                          Chromosome:
                          8:53948553 (GRCh38)
                          8:54861113 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:53948552:TG:
                          Gene:
                          RGS20 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,intron_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          -=0.00108/18 (TOMMO)
                          HGVS:

                          13.

                          rs1491077947 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AT>- [Show Flanks]
                            Chromosome:
                            8:53948320 (GRCh38)
                            8:54860880 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:53948317:ATAT:AT
                            Gene:
                            RGS20 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            ATAT=0.000084/1 (ALFA)
                            -=0.000016/2 (GnomAD)
                            HGVS:

                            14.

                            rs1491032918 has merged into rs34526937 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
                              Chromosome:
                              8:53915157 (GRCh38)
                              8:54827717 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:53915144:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
                              Gene:
                              RGS20 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              AAAAAAAAAAAAA=0.0004/2 (ALFA)
                              A=0.2845/1425 (1000Genomes)
                              HGVS:

                              15.

                              rs1491011698 has merged into rs367844788 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
                                Chromosome:
                                8:53901072 (GRCh38)
                                8:54813632 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:53901062:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
                                Gene:
                                RGS20 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                TTTTTTTTTTTT=0./0 (ALFA)
                                TTTT=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000008.11:g.53901072_53901081del, NC_000008.11:g.53901075_53901081del, NC_000008.11:g.53901076_53901081del, NC_000008.11:g.53901077_53901081del, NC_000008.11:g.53901078_53901081del, NC_000008.11:g.53901079_53901081del, NC_000008.11:g.53901080_53901081del, NC_000008.11:g.53901081del, NC_000008.11:g.53901081dup, NC_000008.11:g.53901080_53901081dup, NC_000008.11:g.53901079_53901081dup, NC_000008.11:g.53901078_53901081dup, NC_000008.10:g.54813632_54813641del, NC_000008.10:g.54813635_54813641del, NC_000008.10:g.54813636_54813641del, NC_000008.10:g.54813637_54813641del, NC_000008.10:g.54813638_54813641del, NC_000008.10:g.54813639_54813641del, NC_000008.10:g.54813640_54813641del, NC_000008.10:g.54813641del, NC_000008.10:g.54813641dup, NC_000008.10:g.54813640_54813641dup, NC_000008.10:g.54813639_54813641dup, NC_000008.10:g.54813638_54813641dup

                                16.

                                rs1490988476 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>A,C [Show Flanks]
                                  Chromosome:
                                  8:53948069 (GRCh38)
                                  8:54860629 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:53948068:T:A,NC_000008.11:53948068:T:C
                                  Gene:
                                  RGS20 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0.000084/1 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:

                                  17.

                                  rs1490969653 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    T>-,TT [Show Flanks]
                                    Chromosome:
                                    8:53856383 (GRCh38)
                                    8:54768943 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:53856382:TTTTTTTT:TTTTTTT,NC_000008.11:53856382:TTTTTTTT:TTTTTTTTT
                                    Gene:
                                    RGS20 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_upstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTT=0./0 (ALFA)
                                    -=0.000008/2 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1490961202 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      8:53890011 (GRCh38)
                                      8:54802571 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:53890010:T:C,NC_000008.11:53890010:T:G
                                      Gene:
                                      RGS20 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      C=0.000007/1 (GnomAD)
                                      HGVS:

                                      19.

                                      rs1490944366 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        8:53890087 (GRCh38)
                                        8:54802647 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:53890086:C:T
                                        Gene:
                                        RGS20 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        HGVS:

                                        20.

                                        rs1490943114 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A,G,T [Show Flanks]
                                          Chromosome:
                                          8:53947392 (GRCh38)
                                          8:54859952 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:53947391:C:A,NC_000008.11:53947391:C:G,NC_000008.11:53947391:C:T
                                          Gene:
                                          RGS20 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.00021/4 (TOMMO)
                                          HGVS:

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