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Items: 1 to 20 of 23245

1.

rs1491580264 [Homo sapiens]
    Variant type:
    INS
    Alleles:
    ->TA [Show Flanks]
    Chromosome:
    5:151924903 (GRCh38)
    5:151304465 (GRCh37)
    Canonical SPDI:
    NC_000005.10:151924903::TA
    Gene:
    GLRA1 (Varview)
    Functional Consequence:
    upstream_transcript_variant,2KB_upstream_variant
    Validated:
    by frequency,by alfa
    MAF:
    TA=0./0 (ALFA)
    TA=0.000004/1 (TOPMED)
    HGVS:
    2.

    rs1491484309 has merged into rs60718344 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      AAAAAAAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
      Chromosome:
      5:151835036 (GRCh38)
      5:151214597 (GRCh37)
      Canonical SPDI:
      NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151835027:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
      Gene:
      GLRA1 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      AAAAAAAA=0./0 (ALFA)
      HGVS:
      NC_000005.10:g.151835036_151835050del, NC_000005.10:g.151835037_151835050del, NC_000005.10:g.151835041_151835050del, NC_000005.10:g.151835042_151835050del, NC_000005.10:g.151835043_151835050del, NC_000005.10:g.151835044_151835050del, NC_000005.10:g.151835045_151835050del, NC_000005.10:g.151835046_151835050del, NC_000005.10:g.151835047_151835050del, NC_000005.10:g.151835048_151835050del, NC_000005.10:g.151835049_151835050del, NC_000005.10:g.151835050del, NC_000005.10:g.151835050dup, NC_000005.10:g.151835049_151835050dup, NC_000005.10:g.151835048_151835050dup, NC_000005.10:g.151835047_151835050dup, NC_000005.10:g.151835046_151835050dup, NC_000005.10:g.151835045_151835050dup, NC_000005.10:g.151835044_151835050dup, NC_000005.10:g.151835043_151835050dup, NC_000005.10:g.151835042_151835050dup, NC_000005.10:g.151835041_151835050dup, NC_000005.10:g.151835039_151835050dup, NC_000005.10:g.151835038_151835050dup, NC_000005.10:g.151835037_151835050dup, NC_000005.10:g.151835036_151835050dup, NC_000005.10:g.151835035_151835050dup, NC_000005.10:g.151835034_151835050dup, NC_000005.10:g.151835031_151835050dup, NC_000005.10:g.151835050_151835051insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151835050_151835051insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151835050_151835051insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.151214597_151214611del, NC_000005.9:g.151214598_151214611del, NC_000005.9:g.151214602_151214611del, NC_000005.9:g.151214603_151214611del, NC_000005.9:g.151214604_151214611del, NC_000005.9:g.151214605_151214611del, NC_000005.9:g.151214606_151214611del, NC_000005.9:g.151214607_151214611del, NC_000005.9:g.151214608_151214611del, NC_000005.9:g.151214609_151214611del, NC_000005.9:g.151214610_151214611del, NC_000005.9:g.151214611del, NC_000005.9:g.151214611dup, NC_000005.9:g.151214610_151214611dup, NC_000005.9:g.151214609_151214611dup, NC_000005.9:g.151214608_151214611dup, NC_000005.9:g.151214607_151214611dup, NC_000005.9:g.151214606_151214611dup, NC_000005.9:g.151214605_151214611dup, NC_000005.9:g.151214604_151214611dup, NC_000005.9:g.151214603_151214611dup, NC_000005.9:g.151214602_151214611dup, NC_000005.9:g.151214600_151214611dup, NC_000005.9:g.151214599_151214611dup, NC_000005.9:g.151214598_151214611dup, NC_000005.9:g.151214597_151214611dup, NC_000005.9:g.151214596_151214611dup, NC_000005.9:g.151214595_151214611dup, NC_000005.9:g.151214592_151214611dup, NC_000005.9:g.151214611_151214612insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.151214611_151214612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.151214611_151214612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.94795_94809del, NG_011764.1:g.94796_94809del, NG_011764.1:g.94800_94809del, NG_011764.1:g.94801_94809del, NG_011764.1:g.94802_94809del, NG_011764.1:g.94803_94809del, NG_011764.1:g.94804_94809del, NG_011764.1:g.94805_94809del, NG_011764.1:g.94806_94809del, NG_011764.1:g.94807_94809del, NG_011764.1:g.94808_94809del, NG_011764.1:g.94809del, NG_011764.1:g.94809dup, NG_011764.1:g.94808_94809dup, NG_011764.1:g.94807_94809dup, NG_011764.1:g.94806_94809dup, NG_011764.1:g.94805_94809dup, NG_011764.1:g.94804_94809dup, NG_011764.1:g.94803_94809dup, NG_011764.1:g.94802_94809dup, NG_011764.1:g.94801_94809dup, NG_011764.1:g.94800_94809dup, NG_011764.1:g.94798_94809dup, NG_011764.1:g.94797_94809dup, NG_011764.1:g.94796_94809dup, NG_011764.1:g.94795_94809dup, NG_011764.1:g.94794_94809dup, NG_011764.1:g.94793_94809dup, NG_011764.1:g.94790_94809dup, NG_011764.1:g.94809_94810insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011764.1:g.94809_94810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011764.1:g.94809_94810insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491449811 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        TA>- [Show Flanks]
        Chromosome:
        5:151924903 (GRCh38)
        5:151304464 (GRCh37)
        Canonical SPDI:
        NC_000005.10:151924902:TA:
        Gene:
        GLRA1 (Varview)
        Functional Consequence:
        upstream_transcript_variant,2KB_upstream_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0.00008/1 (ALFA)
        HGVS:
        4.

        rs1491380216 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->TTTCTTTC [Show Flanks]
          Chromosome:
          5:151849161 (GRCh38)
          5:151228723 (GRCh37)
          Canonical SPDI:
          NC_000005.10:151849161::TTTCTTTC
          Gene:
          GLRA1 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency
          MAF:
          TTTCTTTC=0.00001/1 (GnomAD)
          HGVS:
          5.

          rs1491366138 has merged into rs60113920 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
            Chromosome:
            5:151873676 (GRCh38)
            5:151253237 (GRCh37)
            Canonical SPDI:
            NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:151873665:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
            Gene:
            GLRA1 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AAAAAAAAAAAA=0./0 (ALFA)
            -=0.0698/269 (ALSPAC)
            -=0.35/14 (GENOME_DK)
            HGVS:
            NC_000005.10:g.151873676_151873682del, NC_000005.10:g.151873678_151873682del, NC_000005.10:g.151873679_151873682del, NC_000005.10:g.151873680_151873682del, NC_000005.10:g.151873681_151873682del, NC_000005.10:g.151873682del, NC_000005.10:g.151873682dup, NC_000005.10:g.151873681_151873682dup, NC_000005.10:g.151873680_151873682dup, NC_000005.9:g.151253237_151253243del, NC_000005.9:g.151253239_151253243del, NC_000005.9:g.151253240_151253243del, NC_000005.9:g.151253241_151253243del, NC_000005.9:g.151253242_151253243del, NC_000005.9:g.151253243del, NC_000005.9:g.151253243dup, NC_000005.9:g.151253242_151253243dup, NC_000005.9:g.151253241_151253243dup, NG_011764.1:g.56165_56171del, NG_011764.1:g.56167_56171del, NG_011764.1:g.56168_56171del, NG_011764.1:g.56169_56171del, NG_011764.1:g.56170_56171del, NG_011764.1:g.56171del, NG_011764.1:g.56171dup, NG_011764.1:g.56170_56171dup, NG_011764.1:g.56169_56171dup
            6.

            rs1491352096 has merged into rs199505206 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
              Chromosome:
              5:151827039 (GRCh38)
              5:151206600 (GRCh37)
              Canonical SPDI:
              NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151827029:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
              Gene:
              GLRA1 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              TTTTTTTTTTTTTT=0./0 (ALFA)
              HGVS:
              NC_000005.10:g.151827039_151827046del, NC_000005.10:g.151827043_151827046del, NC_000005.10:g.151827044_151827046del, NC_000005.10:g.151827045_151827046del, NC_000005.10:g.151827046del, NC_000005.10:g.151827046dup, NC_000005.10:g.151827045_151827046dup, NC_000005.10:g.151827044_151827046dup, NC_000005.10:g.151827043_151827046dup, NC_000005.10:g.151827042_151827046dup, NC_000005.10:g.151827041_151827046dup, NC_000005.10:g.151827040_151827046dup, NC_000005.10:g.151827039_151827046dup, NC_000005.10:g.151827038_151827046dup, NC_000005.10:g.151827037_151827046dup, NC_000005.10:g.151827036_151827046dup, NC_000005.10:g.151827035_151827046dup, NC_000005.10:g.151827034_151827046dup, NC_000005.10:g.151827033_151827046dup, NC_000005.10:g.151827032_151827046dup, NC_000005.10:g.151827031_151827046dup, NC_000005.10:g.151827030_151827046dup, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827030_151827046T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.151827046_151827047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206600_151206607del, NC_000005.9:g.151206604_151206607del, NC_000005.9:g.151206605_151206607del, NC_000005.9:g.151206606_151206607del, NC_000005.9:g.151206607del, NC_000005.9:g.151206607dup, NC_000005.9:g.151206606_151206607dup, NC_000005.9:g.151206605_151206607dup, NC_000005.9:g.151206604_151206607dup, NC_000005.9:g.151206603_151206607dup, NC_000005.9:g.151206602_151206607dup, NC_000005.9:g.151206601_151206607dup, NC_000005.9:g.151206600_151206607dup, NC_000005.9:g.151206599_151206607dup, NC_000005.9:g.151206598_151206607dup, NC_000005.9:g.151206597_151206607dup, NC_000005.9:g.151206596_151206607dup, NC_000005.9:g.151206595_151206607dup, NC_000005.9:g.151206594_151206607dup, NC_000005.9:g.151206593_151206607dup, NC_000005.9:g.151206592_151206607dup, NC_000005.9:g.151206591_151206607dup, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206591_151206607T[45]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.151206607_151206608insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011764.1:g.102800_102807del, NG_011764.1:g.102804_102807del, NG_011764.1:g.102805_102807del, NG_011764.1:g.102806_102807del, NG_011764.1:g.102807del, NG_011764.1:g.102807dup, NG_011764.1:g.102806_102807dup, NG_011764.1:g.102805_102807dup, NG_011764.1:g.102804_102807dup, NG_011764.1:g.102803_102807dup, NG_011764.1:g.102802_102807dup, NG_011764.1:g.102801_102807dup, NG_011764.1:g.102800_102807dup, NG_011764.1:g.102799_102807dup, NG_011764.1:g.102798_102807dup, NG_011764.1:g.102797_102807dup, NG_011764.1:g.102796_102807dup, NG_011764.1:g.102795_102807dup, NG_011764.1:g.102794_102807dup, NG_011764.1:g.102793_102807dup, NG_011764.1:g.102792_102807dup, NG_011764.1:g.102791_102807dup, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102791_102807A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.102807_102808insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
              7.

              rs1491289209 has merged into rs757336792 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                5:151833805 (GRCh38)
                5:151213366 (GRCh37)
                Canonical SPDI:
                NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:151833796:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                GLRA1 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.151833805_151833815del, NC_000005.10:g.151833809_151833815del, NC_000005.10:g.151833810_151833815del, NC_000005.10:g.151833811_151833815del, NC_000005.10:g.151833812_151833815del, NC_000005.10:g.151833813_151833815del, NC_000005.10:g.151833814_151833815del, NC_000005.10:g.151833815del, NC_000005.10:g.151833815dup, NC_000005.10:g.151833814_151833815dup, NC_000005.10:g.151833813_151833815dup, NC_000005.10:g.151833812_151833815dup, NC_000005.10:g.151833811_151833815dup, NC_000005.10:g.151833810_151833815dup, NC_000005.10:g.151833809_151833815dup, NC_000005.10:g.151833808_151833815dup, NC_000005.10:g.151833807_151833815dup, NC_000005.10:g.151833806_151833815dup, NC_000005.10:g.151833805_151833815dup, NC_000005.10:g.151833804_151833815dup, NC_000005.10:g.151833803_151833815dup, NC_000005.10:g.151833798_151833815dup, NC_000005.10:g.151833815_151833816insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.151833815_151833816insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.151213366_151213376del, NC_000005.9:g.151213370_151213376del, NC_000005.9:g.151213371_151213376del, NC_000005.9:g.151213372_151213376del, NC_000005.9:g.151213373_151213376del, NC_000005.9:g.151213374_151213376del, NC_000005.9:g.151213375_151213376del, NC_000005.9:g.151213376del, NC_000005.9:g.151213376dup, NC_000005.9:g.151213375_151213376dup, NC_000005.9:g.151213374_151213376dup, NC_000005.9:g.151213373_151213376dup, NC_000005.9:g.151213372_151213376dup, NC_000005.9:g.151213371_151213376dup, NC_000005.9:g.151213370_151213376dup, NC_000005.9:g.151213369_151213376dup, NC_000005.9:g.151213368_151213376dup, NC_000005.9:g.151213367_151213376dup, NC_000005.9:g.151213366_151213376dup, NC_000005.9:g.151213365_151213376dup, NC_000005.9:g.151213364_151213376dup, NC_000005.9:g.151213359_151213376dup, NC_000005.9:g.151213376_151213377insAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.151213376_151213377insAAAAAAAAAAAAAAAAAAAAAAAA, NG_011764.1:g.96030_96040del, NG_011764.1:g.96034_96040del, NG_011764.1:g.96035_96040del, NG_011764.1:g.96036_96040del, NG_011764.1:g.96037_96040del, NG_011764.1:g.96038_96040del, NG_011764.1:g.96039_96040del, NG_011764.1:g.96040del, NG_011764.1:g.96040dup, NG_011764.1:g.96039_96040dup, NG_011764.1:g.96038_96040dup, NG_011764.1:g.96037_96040dup, NG_011764.1:g.96036_96040dup, NG_011764.1:g.96035_96040dup, NG_011764.1:g.96034_96040dup, NG_011764.1:g.96033_96040dup, NG_011764.1:g.96032_96040dup, NG_011764.1:g.96031_96040dup, NG_011764.1:g.96030_96040dup, NG_011764.1:g.96029_96040dup, NG_011764.1:g.96028_96040dup, NG_011764.1:g.96023_96040dup, NG_011764.1:g.96040_96041insTTTTTTTTTTTTTTTTTTTTTTT, NG_011764.1:g.96040_96041insTTTTTTTTTTTTTTTTTTTTTTTT
                8.

                rs1491282757 [Homo sapiens]
                  Variant type:
                  DEL
                  Alleles:
                  CA>- [Show Flanks]
                  Chromosome:
                  5:151835027 (GRCh38)
                  5:151214588 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:151835026:CA:
                  Gene:
                  GLRA1 (Varview)
                  Functional Consequence:
                  intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  -=0.00152/18 (ALFA)
                  -=0.0008/19 (GnomAD)
                  -=0.00119/32 (TOMMO)
                  HGVS:
                  9.

                  rs1491262058 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    CA>- [Show Flanks]
                    Chromosome:
                    5:151833817 (GRCh38)
                    5:151213378 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:151833816:CA:
                    Gene:
                    GLRA1 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00042/5 (ALFA)
                    HGVS:
                    10.

                    rs1491243794 [Homo sapiens]
                      Variant type:
                      SNV:
                      Alleles:
                      ->CAAAAA
                      Chromosome:
                      no mapping
                      Canonical SPDI:
                      11.

                      rs1491217746 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>- [Show Flanks]
                        Chromosome:
                        5:151849260 (GRCh38)
                        5:151228821 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:151849258:TTT:T
                        Gene:
                        GLRA1 (Varview)
                        Functional Consequence:
                        intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.00025/3 (ALFA)
                        -=0.00001/1 (GnomAD)
                        -=0.00015/3 (TOMMO)
                        HGVS:
                        12.

                        rs1491213353 [Homo sapiens]
                          Variant type:
                          DEL
                          Alleles:
                          AT>- [Show Flanks]
                          Chromosome:
                          5:151864139 (GRCh38)
                          5:151243700 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:151864138:AT:
                          Gene:
                          GLRA1 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          -=0./0 (ALFA)
                          -=0.000047/5 (GnomAD)
                          HGVS:
                          13.

                          rs1491188711 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            CT>- [Show Flanks]
                            Chromosome:
                            5:151849162 (GRCh38)
                            5:151228723 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:151849160:TCT:T
                            Gene:
                            GLRA1 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            HGVS:
                            14.

                            rs1491072513 [Homo sapiens]
                              Variant type:
                              INS
                              Alleles:
                              ->TG,TTG [Show Flanks]
                              Chromosome:
                              5:151843278 (GRCh38)
                              5:151222840 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:151843278::TG,NC_000005.10:151843278::TTG
                              Gene:
                              GLRA1 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              TTG=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491056162 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                TG>- [Show Flanks]
                                Chromosome:
                                5:151843278 (GRCh38)
                                5:151222839 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:151843277:TG:
                                Gene:
                                GLRA1 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0.00185/22 (ALFA)
                                HGVS:
                                16.

                                rs1491049408 [Homo sapiens]
                                  Variant type:
                                  INS
                                  Alleles:
                                  ->AA [Show Flanks]
                                  Chromosome:
                                  5:151924815 (GRCh38)
                                  5:151304377 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:151924815::AA
                                  Gene:
                                  GLRA1 (Varview)
                                  Functional Consequence:
                                  5_prime_UTR_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  AA=0.000279/39 (GnomAD)
                                  HGVS:
                                  17.

                                  rs1491029129 has merged into rs3065618 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
                                    Chromosome:
                                    5:151929253 (GRCh38)
                                    5:151308814 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:151929243:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTTTTTTTT=0./0 (ALFA)
                                    -=0.16194/811 (1000Genomes)
                                    HGVS:
                                    NC_000005.10:g.151929253_151929263del, NC_000005.10:g.151929254_151929263del, NC_000005.10:g.151929256_151929263del, NC_000005.10:g.151929257_151929263del, NC_000005.10:g.151929258_151929263del, NC_000005.10:g.151929259_151929263del, NC_000005.10:g.151929260_151929263del, NC_000005.10:g.151929261_151929263del, NC_000005.10:g.151929262_151929263del, NC_000005.10:g.151929263del, NC_000005.10:g.151929263dup, NC_000005.10:g.151929262_151929263dup, NC_000005.10:g.151929261_151929263dup, NC_000005.10:g.151929260_151929263dup, NC_000005.10:g.151929259_151929263dup, NC_000005.10:g.151929258_151929263dup, NC_000005.10:g.151929256_151929263dup, NC_000005.10:g.151929255_151929263dup, NC_000005.9:g.151308814_151308824del, NC_000005.9:g.151308815_151308824del, NC_000005.9:g.151308817_151308824del, NC_000005.9:g.151308818_151308824del, NC_000005.9:g.151308819_151308824del, NC_000005.9:g.151308820_151308824del, NC_000005.9:g.151308821_151308824del, NC_000005.9:g.151308822_151308824del, NC_000005.9:g.151308823_151308824del, NC_000005.9:g.151308824del, NC_000005.9:g.151308824dup, NC_000005.9:g.151308823_151308824dup, NC_000005.9:g.151308822_151308824dup, NC_000005.9:g.151308821_151308824dup, NC_000005.9:g.151308820_151308824dup, NC_000005.9:g.151308819_151308824dup, NC_000005.9:g.151308817_151308824dup, NC_000005.9:g.151308816_151308824dup, NG_011764.1:g.583_593del, NG_011764.1:g.584_593del, NG_011764.1:g.586_593del, NG_011764.1:g.587_593del, NG_011764.1:g.588_593del, NG_011764.1:g.589_593del, NG_011764.1:g.590_593del, NG_011764.1:g.591_593del, NG_011764.1:g.592_593del, NG_011764.1:g.593del, NG_011764.1:g.593dup, NG_011764.1:g.592_593dup, NG_011764.1:g.591_593dup, NG_011764.1:g.590_593dup, NG_011764.1:g.589_593dup, NG_011764.1:g.588_593dup, NG_011764.1:g.586_593dup, NG_011764.1:g.585_593dup
                                    18.

                                    rs1491003729 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>G [Show Flanks]
                                      Chromosome:
                                      5:151909475 (GRCh38)
                                      5:151289036 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:151909474:T:G
                                      Gene:
                                      GLRA1 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000014/2 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490984371 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        T>- [Show Flanks]
                                        Chromosome:
                                        5:151849497 (GRCh38)
                                        5:151229058 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:151849496:TTTT:TTT
                                        Gene:
                                        GLRA1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        TTT=0.00194/23 (ALFA)
                                        -=0.00005/4 (GnomAD)
                                        HGVS:
                                        20.

                                        rs1490976153 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          5:151893302 (GRCh38)
                                          5:151272863 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:151893301:T:C
                                          Gene:
                                          GLRA1 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0./0 (ALFA)
                                          HGVS:

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