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1.

rs1491564297 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:

    2.

    rs1491527169 has merged into rs762670649 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      5:66172836 (GRCh38)
      5:65468664 (GRCh37)
      Canonical SPDI:
      NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      SREK1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      -=0.4/16 (GENOME_DK)
      HGVS:
      NC_000005.10:g.66172836_66172849del, NC_000005.10:g.66172837_66172849del, NC_000005.10:g.66172838_66172849del, NC_000005.10:g.66172839_66172849del, NC_000005.10:g.66172840_66172849del, NC_000005.10:g.66172841_66172849del, NC_000005.10:g.66172842_66172849del, NC_000005.10:g.66172843_66172849del, NC_000005.10:g.66172844_66172849del, NC_000005.10:g.66172845_66172849del, NC_000005.10:g.66172846_66172849del, NC_000005.10:g.66172847_66172849del, NC_000005.10:g.66172848_66172849del, NC_000005.10:g.66172849del, NC_000005.10:g.66172849dup, NC_000005.10:g.66172848_66172849dup, NC_000005.10:g.66172847_66172849dup, NC_000005.10:g.66172846_66172849dup, NC_000005.10:g.66172845_66172849dup, NC_000005.10:g.66172844_66172849dup, NC_000005.10:g.66172843_66172849dup, NC_000005.10:g.66172842_66172849dup, NC_000005.10:g.66172839_66172849dup, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468664_65468677del, NC_000005.9:g.65468665_65468677del, NC_000005.9:g.65468666_65468677del, NC_000005.9:g.65468667_65468677del, NC_000005.9:g.65468668_65468677del, NC_000005.9:g.65468669_65468677del, NC_000005.9:g.65468670_65468677del, NC_000005.9:g.65468671_65468677del, NC_000005.9:g.65468672_65468677del, NC_000005.9:g.65468673_65468677del, NC_000005.9:g.65468674_65468677del, NC_000005.9:g.65468675_65468677del, NC_000005.9:g.65468676_65468677del, NC_000005.9:g.65468677del, NC_000005.9:g.65468677dup, NC_000005.9:g.65468676_65468677dup, NC_000005.9:g.65468675_65468677dup, NC_000005.9:g.65468674_65468677dup, NC_000005.9:g.65468673_65468677dup, NC_000005.9:g.65468672_65468677dup, NC_000005.9:g.65468671_65468677dup, NC_000005.9:g.65468670_65468677dup, NC_000005.9:g.65468667_65468677dup, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

      3.

      rs1491456368 [Homo sapiens]
        Variant type:
        DEL
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        5:66172824 (GRCh38)
        5:65468652 (GRCh37)
        Canonical SPDI:
        NC_000005.10:66172823:AT:
        Gene:
        SREK1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        -=0./0 (ALFA)
        HGVS:

        4.

        rs1491428998 has merged into rs56958757 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
          Chromosome:
          5:66181911 (GRCh38)
          5:65477739 (GRCh37)
          Canonical SPDI:
          NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000005.10:66181900:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG
          Gene:
          SREK1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          GGGGGGGGGGG=0./0 (ALFA)
          HGVS:
          NC_000005.10:g.66181911_66181913del, NC_000005.10:g.66181912_66181913del, NC_000005.10:g.66181913del, NC_000005.10:g.66181913dup, NC_000005.10:g.66181912_66181913dup, NC_000005.10:g.66181911_66181913dup, NC_000005.10:g.66181910_66181913dup, NC_000005.10:g.66181909_66181913dup, NC_000005.9:g.65477739_65477741del, NC_000005.9:g.65477740_65477741del, NC_000005.9:g.65477741del, NC_000005.9:g.65477741dup, NC_000005.9:g.65477740_65477741dup, NC_000005.9:g.65477739_65477741dup, NC_000005.9:g.65477738_65477741dup, NC_000005.9:g.65477737_65477741dup, XM_011543171.4:c.*3043_*3045del, XM_011543171.4:c.*3044_*3045del, XM_011543171.4:c.*3045del, XM_011543171.4:c.*3045dup, XM_011543171.4:c.*3044_*3045dup, XM_011543171.4:c.*3043_*3045dup, XM_011543171.4:c.*3042_*3045dup, XM_011543171.4:c.*3041_*3045dup, XM_011543171.3:c.*3043_*3045del, XM_011543171.3:c.*3044_*3045del, XM_011543171.3:c.*3045del, XM_011543171.3:c.*3045dup, XM_011543171.3:c.*3044_*3045dup, XM_011543171.3:c.*3043_*3045dup, XM_011543171.3:c.*3042_*3045dup, XM_011543171.3:c.*3041_*3045dup, XM_011543171.2:c.*3043_*3045del, XM_011543171.2:c.*3044_*3045del, XM_011543171.2:c.*3045del, XM_011543171.2:c.*3045dup, XM_011543171.2:c.*3044_*3045dup, XM_011543171.2:c.*3043_*3045dup, XM_011543171.2:c.*3042_*3045dup, XM_011543171.2:c.*3041_*3045dup, NM_139168.4:c.*3043_*3045del, NM_139168.4:c.*3044_*3045del, NM_139168.4:c.*3045del, NM_139168.4:c.*3045dup, NM_139168.4:c.*3044_*3045dup, NM_139168.4:c.*3043_*3045dup, NM_139168.4:c.*3042_*3045dup, NM_139168.4:c.*3041_*3045dup, NM_139168.3:c.*3043_*3045del, NM_139168.3:c.*3044_*3045del, NM_139168.3:c.*3045del, NM_139168.3:c.*3045dup, NM_139168.3:c.*3044_*3045dup, NM_139168.3:c.*3043_*3045dup, NM_139168.3:c.*3042_*3045dup, NM_139168.3:c.*3041_*3045dup, NM_001077199.3:c.*3043_*3045del, NM_001077199.3:c.*3044_*3045del, NM_001077199.3:c.*3045del, NM_001077199.3:c.*3045dup, NM_001077199.3:c.*3044_*3045dup, NM_001077199.3:c.*3043_*3045dup, NM_001077199.3:c.*3042_*3045dup, NM_001077199.3:c.*3041_*3045dup, NM_001077199.2:c.*3043_*3045del, NM_001077199.2:c.*3044_*3045del, NM_001077199.2:c.*3045del, NM_001077199.2:c.*3045dup, NM_001077199.2:c.*3044_*3045dup, NM_001077199.2:c.*3043_*3045dup, NM_001077199.2:c.*3042_*3045dup, NM_001077199.2:c.*3041_*3045dup, NM_001323527.2:c.*3043_*3045del, NM_001323527.2:c.*3044_*3045del, NM_001323527.2:c.*3045del, NM_001323527.2:c.*3045dup, NM_001323527.2:c.*3044_*3045dup, NM_001323527.2:c.*3043_*3045dup, NM_001323527.2:c.*3042_*3045dup, NM_001323527.2:c.*3041_*3045dup, NM_001323527.1:c.*3043_*3045del, NM_001323527.1:c.*3044_*3045del, NM_001323527.1:c.*3045del, NM_001323527.1:c.*3045dup, NM_001323527.1:c.*3044_*3045dup, NM_001323527.1:c.*3043_*3045dup, NM_001323527.1:c.*3042_*3045dup, NM_001323527.1:c.*3041_*3045dup, NM_001270492.2:c.*3043_*3045del, NM_001270492.2:c.*3044_*3045del, NM_001270492.2:c.*3045del, NM_001270492.2:c.*3045dup, NM_001270492.2:c.*3044_*3045dup, NM_001270492.2:c.*3043_*3045dup, NM_001270492.2:c.*3042_*3045dup, NM_001270492.2:c.*3041_*3045dup, NM_001270492.1:c.*3043_*3045del, NM_001270492.1:c.*3044_*3045del, NM_001270492.1:c.*3045del, NM_001270492.1:c.*3045dup, NM_001270492.1:c.*3044_*3045dup, NM_001270492.1:c.*3043_*3045dup, NM_001270492.1:c.*3042_*3045dup, NM_001270492.1:c.*3041_*3045dup, NM_001323534.2:c.*3043_*3045del, NM_001323534.2:c.*3044_*3045del, NM_001323534.2:c.*3045del, NM_001323534.2:c.*3045dup, NM_001323534.2:c.*3044_*3045dup, NM_001323534.2:c.*3043_*3045dup, NM_001323534.2:c.*3042_*3045dup, NM_001323534.2:c.*3041_*3045dup, NM_001323534.1:c.*3043_*3045del, NM_001323534.1:c.*3044_*3045del, NM_001323534.1:c.*3045del, NM_001323534.1:c.*3045dup, NM_001323534.1:c.*3044_*3045dup, NM_001323534.1:c.*3043_*3045dup, NM_001323534.1:c.*3042_*3045dup, NM_001323534.1:c.*3041_*3045dup, NM_001323529.2:c.*3043_*3045del, NM_001323529.2:c.*3044_*3045del, NM_001323529.2:c.*3045del, NM_001323529.2:c.*3045dup, NM_001323529.2:c.*3044_*3045dup, NM_001323529.2:c.*3043_*3045dup, NM_001323529.2:c.*3042_*3045dup, NM_001323529.2:c.*3041_*3045dup, NM_001323529.1:c.*3043_*3045del, NM_001323529.1:c.*3044_*3045del, NM_001323529.1:c.*3045del, NM_001323529.1:c.*3045dup, NM_001323529.1:c.*3044_*3045dup, NM_001323529.1:c.*3043_*3045dup, NM_001323529.1:c.*3042_*3045dup, NM_001323529.1:c.*3041_*3045dup, NM_001323535.2:c.*3043_*3045del, NM_001323535.2:c.*3044_*3045del, NM_001323535.2:c.*3045del, NM_001323535.2:c.*3045dup, NM_001323535.2:c.*3044_*3045dup, NM_001323535.2:c.*3043_*3045dup, NM_001323535.2:c.*3042_*3045dup, NM_001323535.2:c.*3041_*3045dup, NM_001323535.1:c.*3043_*3045del, NM_001323535.1:c.*3044_*3045del, NM_001323535.1:c.*3045del, NM_001323535.1:c.*3045dup, NM_001323535.1:c.*3044_*3045dup, NM_001323535.1:c.*3043_*3045dup, NM_001323535.1:c.*3042_*3045dup, NM_001323535.1:c.*3041_*3045dup, NM_001323533.2:c.*3156_*3158del, NM_001323533.2:c.*3157_*3158del, NM_001323533.2:c.*3158del, NM_001323533.2:c.*3158dup, NM_001323533.2:c.*3157_*3158dup, NM_001323533.2:c.*3156_*3158dup, NM_001323533.2:c.*3155_*3158dup, NM_001323533.2:c.*3154_*3158dup, NM_001323533.1:c.*3156_*3158del, NM_001323533.1:c.*3157_*3158del, NM_001323533.1:c.*3158del, NM_001323533.1:c.*3158dup, NM_001323533.1:c.*3157_*3158dup, NM_001323533.1:c.*3156_*3158dup, NM_001323533.1:c.*3155_*3158dup, NM_001323533.1:c.*3154_*3158dup, XM_047416738.1:c.*3043_*3045del, XM_047416738.1:c.*3044_*3045del, XM_047416738.1:c.*3045del, XM_047416738.1:c.*3045dup, XM_047416738.1:c.*3044_*3045dup, XM_047416738.1:c.*3043_*3045dup, XM_047416738.1:c.*3042_*3045dup, XM_047416738.1:c.*3041_*3045dup, XM_047416740.1:c.*3043_*3045del, XM_047416740.1:c.*3044_*3045del, XM_047416740.1:c.*3045del, XM_047416740.1:c.*3045dup, XM_047416740.1:c.*3044_*3045dup, XM_047416740.1:c.*3043_*3045dup, XM_047416740.1:c.*3042_*3045dup, XM_047416740.1:c.*3041_*3045dup, XM_047416739.1:c.*3043_*3045del, XM_047416739.1:c.*3044_*3045del, XM_047416739.1:c.*3045del, XM_047416739.1:c.*3045dup, XM_047416739.1:c.*3044_*3045dup, XM_047416739.1:c.*3043_*3045dup, XM_047416739.1:c.*3042_*3045dup, XM_047416739.1:c.*3041_*3045dup

          5.

          rs1491384449 has merged into rs762670649 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            5:66172836 (GRCh38)
            5:65468664 (GRCh37)
            Canonical SPDI:
            NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:66172824:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            SREK1 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            -=0.4/16 (GENOME_DK)
            HGVS:
            NC_000005.10:g.66172836_66172849del, NC_000005.10:g.66172837_66172849del, NC_000005.10:g.66172838_66172849del, NC_000005.10:g.66172839_66172849del, NC_000005.10:g.66172840_66172849del, NC_000005.10:g.66172841_66172849del, NC_000005.10:g.66172842_66172849del, NC_000005.10:g.66172843_66172849del, NC_000005.10:g.66172844_66172849del, NC_000005.10:g.66172845_66172849del, NC_000005.10:g.66172846_66172849del, NC_000005.10:g.66172847_66172849del, NC_000005.10:g.66172848_66172849del, NC_000005.10:g.66172849del, NC_000005.10:g.66172849dup, NC_000005.10:g.66172848_66172849dup, NC_000005.10:g.66172847_66172849dup, NC_000005.10:g.66172846_66172849dup, NC_000005.10:g.66172845_66172849dup, NC_000005.10:g.66172844_66172849dup, NC_000005.10:g.66172843_66172849dup, NC_000005.10:g.66172842_66172849dup, NC_000005.10:g.66172839_66172849dup, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.66172849_66172850insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468664_65468677del, NC_000005.9:g.65468665_65468677del, NC_000005.9:g.65468666_65468677del, NC_000005.9:g.65468667_65468677del, NC_000005.9:g.65468668_65468677del, NC_000005.9:g.65468669_65468677del, NC_000005.9:g.65468670_65468677del, NC_000005.9:g.65468671_65468677del, NC_000005.9:g.65468672_65468677del, NC_000005.9:g.65468673_65468677del, NC_000005.9:g.65468674_65468677del, NC_000005.9:g.65468675_65468677del, NC_000005.9:g.65468676_65468677del, NC_000005.9:g.65468677del, NC_000005.9:g.65468677dup, NC_000005.9:g.65468676_65468677dup, NC_000005.9:g.65468675_65468677dup, NC_000005.9:g.65468674_65468677dup, NC_000005.9:g.65468673_65468677dup, NC_000005.9:g.65468672_65468677dup, NC_000005.9:g.65468671_65468677dup, NC_000005.9:g.65468670_65468677dup, NC_000005.9:g.65468667_65468677dup, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.65468677_65468678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

            6.

            rs1491181141 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->AG,CG,TG [Show Flanks]
              Chromosome:
              5:66181901 (GRCh38)
              5:65477730 (GRCh37)
              Canonical SPDI:
              NC_000005.10:66181901:G:GAG,NC_000005.10:66181901:G:GCG,NC_000005.10:66181901:G:GTG
              Gene:
              SREK1 (Varview)
              Functional Consequence:
              3_prime_UTR_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              GCG=0./0 (ALFA)
              GT=0.00005/1 (GnomAD)
              HGVS:
              NC_000005.10:g.66181902_66181903insAG, NC_000005.10:g.66181902_66181903insCG, NC_000005.10:g.66181902_66181903insTG, NC_000005.9:g.65477730_65477731insAG, NC_000005.9:g.65477730_65477731insCG, NC_000005.9:g.65477730_65477731insTG, XM_011543171.4:c.*3034_*3035insAG, XM_011543171.4:c.*3034_*3035insCG, XM_011543171.4:c.*3034_*3035insTG, XM_011543171.3:c.*3034_*3035insAG, XM_011543171.3:c.*3034_*3035insCG, XM_011543171.3:c.*3034_*3035insTG, XM_011543171.2:c.*3034_*3035insAG, XM_011543171.2:c.*3034_*3035insCG, XM_011543171.2:c.*3034_*3035insTG, NM_139168.4:c.*3034_*3035insAG, NM_139168.4:c.*3034_*3035insCG, NM_139168.4:c.*3034_*3035insTG, NM_139168.3:c.*3034_*3035insAG, NM_139168.3:c.*3034_*3035insCG, NM_139168.3:c.*3034_*3035insTG, NM_001077199.3:c.*3034_*3035insAG, NM_001077199.3:c.*3034_*3035insCG, NM_001077199.3:c.*3034_*3035insTG, NM_001077199.2:c.*3034_*3035insAG, NM_001077199.2:c.*3034_*3035insCG, NM_001077199.2:c.*3034_*3035insTG, NM_001323527.2:c.*3034_*3035insAG, NM_001323527.2:c.*3034_*3035insCG, NM_001323527.2:c.*3034_*3035insTG, NM_001323527.1:c.*3034_*3035insAG, NM_001323527.1:c.*3034_*3035insCG, NM_001323527.1:c.*3034_*3035insTG, NM_001270492.2:c.*3034_*3035insAG, NM_001270492.2:c.*3034_*3035insCG, NM_001270492.2:c.*3034_*3035insTG, NM_001270492.1:c.*3034_*3035insAG, NM_001270492.1:c.*3034_*3035insCG, NM_001270492.1:c.*3034_*3035insTG, NM_001323534.2:c.*3034_*3035insAG, NM_001323534.2:c.*3034_*3035insCG, NM_001323534.2:c.*3034_*3035insTG, NM_001323534.1:c.*3034_*3035insAG, NM_001323534.1:c.*3034_*3035insCG, NM_001323534.1:c.*3034_*3035insTG, NM_001323529.2:c.*3034_*3035insAG, NM_001323529.2:c.*3034_*3035insCG, NM_001323529.2:c.*3034_*3035insTG, NM_001323529.1:c.*3034_*3035insAG, NM_001323529.1:c.*3034_*3035insCG, NM_001323529.1:c.*3034_*3035insTG, NM_001323535.2:c.*3034_*3035insAG, NM_001323535.2:c.*3034_*3035insCG, NM_001323535.2:c.*3034_*3035insTG, NM_001323535.1:c.*3034_*3035insAG, NM_001323535.1:c.*3034_*3035insCG, NM_001323535.1:c.*3034_*3035insTG, NM_001323533.2:c.*3147_*3148insAG, NM_001323533.2:c.*3147_*3148insCG, NM_001323533.2:c.*3147_*3148insTG, NM_001323533.1:c.*3147_*3148insAG, NM_001323533.1:c.*3147_*3148insCG, NM_001323533.1:c.*3147_*3148insTG, XM_047416738.1:c.*3034_*3035insAG, XM_047416738.1:c.*3034_*3035insCG, XM_047416738.1:c.*3034_*3035insTG, XM_047416740.1:c.*3034_*3035insAG, XM_047416740.1:c.*3034_*3035insCG, XM_047416740.1:c.*3034_*3035insTG, XM_047416739.1:c.*3034_*3035insAG, XM_047416739.1:c.*3034_*3035insCG, XM_047416739.1:c.*3034_*3035insTG

              7.

              rs1491112679 has merged into rs200400118 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>-,CC [Show Flanks]
                Chromosome:
                5:66166481 (GRCh38)
                5:65462309 (GRCh37)
                Canonical SPDI:
                NC_000005.10:66166480:CCCCCCCC:CCCCCCC,NC_000005.10:66166480:CCCCCCCC:CCCCCCCCC
                Gene:
                SREK1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                CCCCCCCCC=0./0 (ALFA)
                -=0.00055/1 (Korea1K)
                -=0.00071/12 (TOMMO)
                HGVS:

                8.

                rs1491062094 has merged into rs59361484 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
                  Chromosome:
                  5:66149355 (GRCh38)
                  5:65445183 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:66149349:AAAAAAAAAA:AAAAA,NC_000005.10:66149349:AAAAAAAAAA:AAAAAAAA,NC_000005.10:66149349:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:66149349:AAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:66149349:AAAAAAAAAA:AAAAAAAAAAAA
                  Gene:
                  SREK1 (Varview)
                  Functional Consequence:
                  intron_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAA=0./0 (ALFA)
                  -=0.000008/2 (TOPMED)
                  -=0.018925/75 (1000Genomes)
                  A=0.098993/59 (NorthernSweden)
                  A=0.117021/451 (ALSPAC)
                  A=0.125/5 (GENOME_DK)
                  A=0.128371/476 (TWINSUK)
                  A=0.230099/3856 (TOMMO)
                  HGVS:

                  9.

                  rs1490911647 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    GAT>- [Show Flanks]
                    Chromosome:
                    5:66151487 (GRCh38)
                    5:65447315 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:66151484:ATGAT:AT
                    Gene:
                    SREK1 (Varview)
                    Functional Consequence:
                    genic_upstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AT=0./0 (ALFA)
                    -=0.000021/3 (GnomAD)
                    -=0.000023/6 (TOPMED)
                    HGVS:

                    10.

                    rs1490788171 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      5:66181689 (GRCh38)
                      5:65477517 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:66181688:C:T
                      Gene:
                      SREK1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1490630170 has merged into rs1225169794 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TT>-,T,TTT [Show Flanks]
                        Chromosome:
                        5:66181896 (GRCh38)
                        5:65477724 (GRCh37)
                        Canonical SPDI:
                        NC_000005.10:66181890:TTTTTTT:TTTTT,NC_000005.10:66181890:TTTTTTT:TTTTTT,NC_000005.10:66181890:TTTTTTT:TTTTTTTT
                        Gene:
                        SREK1 (Varview)
                        Functional Consequence:
                        3_prime_UTR_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        TTTTTT=0./0 (ALFA)
                        HGVS:
                        NC_000005.10:g.66181896_66181897del, NC_000005.10:g.66181897del, NC_000005.10:g.66181897dup, NC_000005.9:g.65477724_65477725del, NC_000005.9:g.65477725del, NC_000005.9:g.65477725dup, XM_011543171.4:c.*3028_*3029del, XM_011543171.4:c.*3029del, XM_011543171.4:c.*3029dup, XM_011543171.3:c.*3028_*3029del, XM_011543171.3:c.*3029del, XM_011543171.3:c.*3029dup, XM_011543171.2:c.*3028_*3029del, XM_011543171.2:c.*3029del, XM_011543171.2:c.*3029dup, NM_139168.4:c.*3028_*3029del, NM_139168.4:c.*3029del, NM_139168.4:c.*3029dup, NM_139168.3:c.*3028_*3029del, NM_139168.3:c.*3029del, NM_139168.3:c.*3029dup, NM_001077199.3:c.*3028_*3029del, NM_001077199.3:c.*3029del, NM_001077199.3:c.*3029dup, NM_001077199.2:c.*3028_*3029del, NM_001077199.2:c.*3029del, NM_001077199.2:c.*3029dup, NM_001323527.2:c.*3028_*3029del, NM_001323527.2:c.*3029del, NM_001323527.2:c.*3029dup, NM_001323527.1:c.*3028_*3029del, NM_001323527.1:c.*3029del, NM_001323527.1:c.*3029dup, NM_001270492.2:c.*3028_*3029del, NM_001270492.2:c.*3029del, NM_001270492.2:c.*3029dup, NM_001270492.1:c.*3028_*3029del, NM_001270492.1:c.*3029del, NM_001270492.1:c.*3029dup, NM_001323534.2:c.*3028_*3029del, NM_001323534.2:c.*3029del, NM_001323534.2:c.*3029dup, NM_001323534.1:c.*3028_*3029del, NM_001323534.1:c.*3029del, NM_001323534.1:c.*3029dup, NM_001323529.2:c.*3028_*3029del, NM_001323529.2:c.*3029del, NM_001323529.2:c.*3029dup, NM_001323529.1:c.*3028_*3029del, NM_001323529.1:c.*3029del, NM_001323529.1:c.*3029dup, NM_001323535.2:c.*3028_*3029del, NM_001323535.2:c.*3029del, NM_001323535.2:c.*3029dup, NM_001323535.1:c.*3028_*3029del, NM_001323535.1:c.*3029del, NM_001323535.1:c.*3029dup, NM_001323533.2:c.*3141_*3142del, NM_001323533.2:c.*3142del, NM_001323533.2:c.*3142dup, NM_001323533.1:c.*3141_*3142del, NM_001323533.1:c.*3142del, NM_001323533.1:c.*3142dup, XM_047416738.1:c.*3028_*3029del, XM_047416738.1:c.*3029del, XM_047416738.1:c.*3029dup, XM_047416740.1:c.*3028_*3029del, XM_047416740.1:c.*3029del, XM_047416740.1:c.*3029dup, XM_047416739.1:c.*3028_*3029del, XM_047416739.1:c.*3029del, XM_047416739.1:c.*3029dup

                        12.

                        rs1490550992 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          5:66165743 (GRCh38)
                          5:65461571 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:66165742:T:A
                          Gene:
                          SREK1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000014/2 (GnomAD)
                          HGVS:

                          13.

                          rs1490488838 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            5:66158139 (GRCh38)
                            5:65453967 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:66158138:G:T
                            Gene:
                            SREK1 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0.000084/1 (ALFA)
                            T=0.000029/4 (GnomAD)
                            HGVS:

                            14.

                            rs1490372180 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              5:66175343 (GRCh38)
                              5:65471171 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:66175342:A:G
                              Gene:
                              SREK1 (Varview)
                              Functional Consequence:
                              intron_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000008/2 (TOPMED)
                              G=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490353454 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                5:66174204 (GRCh38)
                                5:65470032 (GRCh37)
                                Canonical SPDI:
                                NC_000005.10:66174203:G:A,NC_000005.10:66174203:G:T
                                Gene:
                                SREK1 (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1490341461 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  5:66167971 (GRCh38)
                                  5:65463799 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:66167970:C:G
                                  Gene:
                                  SREK1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  HGVS:

                                  17.

                                  rs1490299797 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    ->T [Show Flanks]
                                    Chromosome:
                                    5:66182375 (GRCh38)
                                    5:65478204 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:66182375:TTT:TTTT
                                    Gene:
                                    SREK1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    TTTT=0./0 (ALFA)
                                    T=0.000004/1 (TOPMED)
                                    T=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490247212 [Homo sapiens]
                                      Variant type:
                                      DEL
                                      Alleles:
                                      CTT>- [Show Flanks]
                                      Chromosome:
                                      5:66183530 (GRCh38)
                                      5:65479358 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:66183529:CTT:
                                      Gene:
                                      SREK1 (Varview)
                                      Functional Consequence:
                                      3_prime_UTR_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      -=0./0 (ALFA)
                                      -=0.000007/1 (GnomAD)
                                      -=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490197639 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        5:66163582 (GRCh38)
                                        5:65459410 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:66163581:C:T
                                        Gene:
                                        SREK1 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000007/1 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1490180872 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>T [Show Flanks]
                                          Chromosome:
                                          5:66144675 (GRCh38)
                                          5:65440503 (GRCh37)
                                          Canonical SPDI:
                                          NC_000005.10:66144674:G:T
                                          Gene:
                                          SREK1 (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000007/1 (GnomAD)
                                          HGVS:

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