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Items: 1 to 20 of 1000

1.

rs1491565510 [Homo sapiens]
    Variant type:
    SNV:
    Alleles:
    ->TTTTCTTTTTTTTTTTTTTTTT
    Chromosome:
    no mapping
    Canonical SPDI:
    2.

    rs1491550471 has merged into rs11330287 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      TTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
      Chromosome:
      5:72155777 (GRCh38)
      5:71451604 (GRCh37)
      Canonical SPDI:
      NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72155766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      Gene:
      MAP1B (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TTTTTTTTTTT=0./0 (ALFA)
      -=0.000072/19 (TOPMED)
      HGVS:
      NC_000005.10:g.72155777_72155784del, NC_000005.10:g.72155778_72155784del, NC_000005.10:g.72155782_72155784del, NC_000005.10:g.72155783_72155784del, NC_000005.10:g.72155784del, NC_000005.10:g.72155784dup, NC_000005.10:g.72155783_72155784dup, NC_000005.10:g.72155782_72155784dup, NC_000005.10:g.72155781_72155784dup, NC_000005.10:g.72155780_72155784dup, NC_000005.10:g.72155779_72155784dup, NC_000005.10:g.72155778_72155784dup, NC_000005.10:g.72155777_72155784dup, NC_000005.10:g.72155776_72155784dup, NC_000005.10:g.72155775_72155784dup, NC_000005.10:g.72155772_72155784dup, NC_000005.10:g.72155771_72155784dup, NC_000005.10:g.72155784_72155785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71451604_71451611del, NC_000005.9:g.71451605_71451611del, NC_000005.9:g.71451609_71451611del, NC_000005.9:g.71451610_71451611del, NC_000005.9:g.71451611del, NC_000005.9:g.71451611dup, NC_000005.9:g.71451610_71451611dup, NC_000005.9:g.71451609_71451611dup, NC_000005.9:g.71451608_71451611dup, NC_000005.9:g.71451607_71451611dup, NC_000005.9:g.71451606_71451611dup, NC_000005.9:g.71451605_71451611dup, NC_000005.9:g.71451604_71451611dup, NC_000005.9:g.71451603_71451611dup, NC_000005.9:g.71451602_71451611dup, NC_000005.9:g.71451599_71451611dup, NC_000005.9:g.71451598_71451611dup, NC_000005.9:g.71451611_71451612insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
      3.

      rs1491550247 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        ->CTTTTTTTT [Show Flanks]
        Chromosome:
        5:72163917 (GRCh38)
        5:71459745 (GRCh37)
        Canonical SPDI:
        NC_000005.10:72163917:TTTTTTTT:TTTTTTTTCTTTTTTTT
        Gene:
        MAP1B (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        TTTTTTTTC=0.00262/44 (TOMMO)
        HGVS:
        4.

        rs1491475296 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->G [Show Flanks]
          Chromosome:
          5:72116117 (GRCh38)
          5:71411945 (GRCh37)
          Canonical SPDI:
          NC_000005.10:72116117::G
          Gene:
          MAP1B (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by frequency
          MAF:
          G=0.000021/3 (GnomAD)
          HGVS:
          5.

          rs1491463040 has merged into rs796802217 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
            Chromosome:
            5:72163925 (GRCh38)
            5:71459752 (GRCh37)
            Canonical SPDI:
            NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163916:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            Gene:
            MAP1B (Varview)
            Functional Consequence:
            intron_variant,genic_upstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TTTTTTTTTTT=0./0 (ALFA)
            HGVS:
            NC_000005.10:g.72163925_72163929del, NC_000005.10:g.72163926_72163929del, NC_000005.10:g.72163928_72163929del, NC_000005.10:g.72163929del, NC_000005.10:g.72163929dup, NC_000005.10:g.72163928_72163929dup, NC_000005.10:g.72163927_72163929dup, NC_000005.10:g.72163926_72163929dup, NC_000005.10:g.72163923_72163929dup, NC_000005.10:g.72163921_72163929dup, NC_000005.10:g.72163920_72163929dup, NC_000005.10:g.72163919_72163929dup, NC_000005.10:g.72163917_72163929dup, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163929_72163930insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459752_71459756del, NC_000005.9:g.71459753_71459756del, NC_000005.9:g.71459755_71459756del, NC_000005.9:g.71459756del, NC_000005.9:g.71459756dup, NC_000005.9:g.71459755_71459756dup, NC_000005.9:g.71459754_71459756dup, NC_000005.9:g.71459753_71459756dup, NC_000005.9:g.71459750_71459756dup, NC_000005.9:g.71459748_71459756dup, NC_000005.9:g.71459747_71459756dup, NC_000005.9:g.71459746_71459756dup, NC_000005.9:g.71459744_71459756dup, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459756_71459757insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
            6.

            rs1491446903 [Homo sapiens]
              Variant type:
              DEL
              Alleles:
              CA>- [Show Flanks]
              Chromosome:
              5:72161956 (GRCh38)
              5:71457783 (GRCh37)
              Canonical SPDI:
              NC_000005.10:72161955:CA:
              Gene:
              MAP1B (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa
              MAF:
              -=0.00008/1 (ALFA)
              HGVS:
              7.

              rs1491443618 has merged into rs10608907 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                AAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
                Chromosome:
                5:72163237 (GRCh38)
                5:71459064 (GRCh37)
                Canonical SPDI:
                NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:72163227:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                Gene:
                MAP1B (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                AAAAAAAAA=0./0 (ALFA)
                HGVS:
                NC_000005.10:g.72163237_72163248del, NC_000005.10:g.72163238_72163248del, NC_000005.10:g.72163239_72163248del, NC_000005.10:g.72163240_72163248del, NC_000005.10:g.72163242_72163248del, NC_000005.10:g.72163244_72163248del, NC_000005.10:g.72163245_72163248del, NC_000005.10:g.72163246_72163248del, NC_000005.10:g.72163247_72163248del, NC_000005.10:g.72163248del, NC_000005.10:g.72163248dup, NC_000005.10:g.72163247_72163248dup, NC_000005.10:g.72163246_72163248dup, NC_000005.10:g.72163245_72163248dup, NC_000005.10:g.72163244_72163248dup, NC_000005.10:g.72163243_72163248dup, NC_000005.10:g.72163242_72163248dup, NC_000005.10:g.72163241_72163248dup, NC_000005.10:g.72163240_72163248dup, NC_000005.10:g.72163239_72163248dup, NC_000005.10:g.72163238_72163248dup, NC_000005.10:g.72163237_72163248dup, NC_000005.10:g.72163236_72163248dup, NC_000005.10:g.72163235_72163248dup, NC_000005.10:g.72163234_72163248dup, NC_000005.10:g.72163233_72163248dup, NC_000005.10:g.72163232_72163248dup, NC_000005.10:g.72163248_72163249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.72163248_72163249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.71459064_71459075del, NC_000005.9:g.71459065_71459075del, NC_000005.9:g.71459066_71459075del, NC_000005.9:g.71459067_71459075del, NC_000005.9:g.71459069_71459075del, NC_000005.9:g.71459071_71459075del, NC_000005.9:g.71459072_71459075del, NC_000005.9:g.71459073_71459075del, NC_000005.9:g.71459074_71459075del, NC_000005.9:g.71459075del, NC_000005.9:g.71459075dup, NC_000005.9:g.71459074_71459075dup, NC_000005.9:g.71459073_71459075dup, NC_000005.9:g.71459072_71459075dup, NC_000005.9:g.71459071_71459075dup, NC_000005.9:g.71459070_71459075dup, NC_000005.9:g.71459069_71459075dup, NC_000005.9:g.71459068_71459075dup, NC_000005.9:g.71459067_71459075dup, NC_000005.9:g.71459066_71459075dup, NC_000005.9:g.71459065_71459075dup, NC_000005.9:g.71459064_71459075dup, NC_000005.9:g.71459063_71459075dup, NC_000005.9:g.71459062_71459075dup, NC_000005.9:g.71459061_71459075dup, NC_000005.9:g.71459060_71459075dup, NC_000005.9:g.71459059_71459075dup, NC_000005.9:g.71459075_71459076insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.71459075_71459076insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
                8.

                rs1491436478 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>- [Show Flanks]
                  Chromosome:
                  5:72116118 (GRCh38)
                  5:71411945 (GRCh37)
                  Canonical SPDI:
                  NC_000005.10:72116116:AAA:A
                  Gene:
                  MAP1B (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  A=0./0 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  9.

                  rs1491416776 [Homo sapiens]
                    Variant type:
                    DEL
                    Alleles:
                    TA>- [Show Flanks]
                    Chromosome:
                    5:72210007 (GRCh38)
                    5:71505834 (GRCh37)
                    Canonical SPDI:
                    NC_000005.10:72210006:TA:
                    Gene:
                    MAP1B (Varview)
                    Functional Consequence:
                    500B_downstream_variant,downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    -=0.00034/4 (ALFA)
                    HGVS:
                    10.

                    rs1491385298 has merged into rs869167918 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                      Chromosome:
                      5:72163938 (GRCh38)
                      5:71459765 (GRCh37)
                      Canonical SPDI:
                      NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72163930:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      Gene:
                      MAP1B (Varview)
                      Functional Consequence:
                      intron_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      TTTTTTTTT=0./0 (ALFA)
                      TTTTTTTTTTTTTTT=0.02455/11 (NorthernSweden)
                      HGVS:
                      NC_000005.10:g.72163938_72163951del, NC_000005.10:g.72163939_72163951del, NC_000005.10:g.72163940_72163951del, NC_000005.10:g.72163941_72163951del, NC_000005.10:g.72163942_72163951del, NC_000005.10:g.72163943_72163951del, NC_000005.10:g.72163944_72163951del, NC_000005.10:g.72163945_72163951del, NC_000005.10:g.72163947_72163951del, NC_000005.10:g.72163948_72163951del, NC_000005.10:g.72163949_72163951del, NC_000005.10:g.72163950_72163951del, NC_000005.10:g.72163951del, NC_000005.10:g.72163951dup, NC_000005.10:g.72163950_72163951dup, NC_000005.10:g.72163949_72163951dup, NC_000005.10:g.72163948_72163951dup, NC_000005.10:g.72163947_72163951dup, NC_000005.10:g.72163946_72163951dup, NC_000005.10:g.72163945_72163951dup, NC_000005.10:g.72163944_72163951dup, NC_000005.10:g.72163941_72163951dup, NC_000005.10:g.72163940_72163951dup, NC_000005.10:g.72163939_72163951dup, NC_000005.10:g.72163938_72163951dup, NC_000005.10:g.72163937_72163951dup, NC_000005.10:g.72163936_72163951dup, NC_000005.10:g.72163935_72163951dup, NC_000005.10:g.72163934_72163951dup, NC_000005.10:g.72163933_72163951dup, NC_000005.10:g.72163932_72163951dup, NC_000005.10:g.72163931_72163951dup, NC_000005.10:g.72163951_72163952insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163951_72163952insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163951_72163952insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.72163951_72163952insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459765_71459778del, NC_000005.9:g.71459766_71459778del, NC_000005.9:g.71459767_71459778del, NC_000005.9:g.71459768_71459778del, NC_000005.9:g.71459769_71459778del, NC_000005.9:g.71459770_71459778del, NC_000005.9:g.71459771_71459778del, NC_000005.9:g.71459772_71459778del, NC_000005.9:g.71459774_71459778del, NC_000005.9:g.71459775_71459778del, NC_000005.9:g.71459776_71459778del, NC_000005.9:g.71459777_71459778del, NC_000005.9:g.71459778del, NC_000005.9:g.71459778dup, NC_000005.9:g.71459777_71459778dup, NC_000005.9:g.71459776_71459778dup, NC_000005.9:g.71459775_71459778dup, NC_000005.9:g.71459774_71459778dup, NC_000005.9:g.71459773_71459778dup, NC_000005.9:g.71459772_71459778dup, NC_000005.9:g.71459771_71459778dup, NC_000005.9:g.71459768_71459778dup, NC_000005.9:g.71459767_71459778dup, NC_000005.9:g.71459766_71459778dup, NC_000005.9:g.71459765_71459778dup, NC_000005.9:g.71459764_71459778dup, NC_000005.9:g.71459763_71459778dup, NC_000005.9:g.71459762_71459778dup, NC_000005.9:g.71459761_71459778dup, NC_000005.9:g.71459760_71459778dup, NC_000005.9:g.71459759_71459778dup, NC_000005.9:g.71459758_71459778dup, NC_000005.9:g.71459778_71459779insTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459778_71459779insTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459778_71459779insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.71459778_71459779insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                      11.

                      rs1491371230 [Homo sapiens]
                        Variant type:
                        SNV:
                        Alleles:
                        ->AT
                        Chromosome:
                        no mapping
                        Canonical SPDI:
                        12.

                        rs1491220738 has merged into rs1190548695 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          CCCT>-,CCCTCCCT [Show Flanks]
                          Chromosome:
                          5:72175034 (GRCh38)
                          5:71470861 (GRCh37)
                          Canonical SPDI:
                          NC_000005.10:72175020:TCCCTCCCTCCCTCCCT:TCCCTCCCTCCCT,NC_000005.10:72175020:TCCCTCCCTCCCTCCCT:TCCCTCCCTCCCTCCCTCCCT
                          Gene:
                          MAP1B (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          TCCCTCCCTCCCT=0.00006/1 (ALFA)
                          -=0.00009/9 (GnomAD)
                          TCCC=0.00399/64 (TOMMO)
                          TCCC=0.00497/9 (Korea1K)
                          HGVS:
                          13.

                          rs1491202745 has merged into rs564543921 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
                            Chromosome:
                            5:72207972 (GRCh38)
                            5:71503799 (GRCh37)
                            Canonical SPDI:
                            NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:72207962:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
                            Gene:
                            MAP1B (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTTTTTTT=0./0 (ALFA)
                            TTTTTTTTTTT=0./0 (GENOME_DK)
                            TTTTTTTTTTT=0.0887/444 (1000Genomes)
                            HGVS:
                            NC_000005.10:g.72207972_72207983del, NC_000005.10:g.72207973_72207983del, NC_000005.10:g.72207974_72207983del, NC_000005.10:g.72207975_72207983del, NC_000005.10:g.72207976_72207983del, NC_000005.10:g.72207977_72207983del, NC_000005.10:g.72207978_72207983del, NC_000005.10:g.72207979_72207983del, NC_000005.10:g.72207980_72207983del, NC_000005.10:g.72207981_72207983del, NC_000005.10:g.72207982_72207983del, NC_000005.10:g.72207983del, NC_000005.10:g.72207983dup, NC_000005.10:g.72207982_72207983dup, NC_000005.10:g.72207981_72207983dup, NC_000005.10:g.72207980_72207983dup, NC_000005.10:g.72207979_72207983dup, NC_000005.10:g.72207978_72207983dup, NC_000005.10:g.72207977_72207983dup, NC_000005.10:g.72207976_72207983dup, NC_000005.10:g.72207975_72207983dup, NC_000005.10:g.72207973_72207983dup, NC_000005.10:g.72207967_72207983dup, NC_000005.10:g.72207966_72207983dup, NC_000005.10:g.72207964_72207983dup, NC_000005.9:g.71503799_71503810del, NC_000005.9:g.71503800_71503810del, NC_000005.9:g.71503801_71503810del, NC_000005.9:g.71503802_71503810del, NC_000005.9:g.71503803_71503810del, NC_000005.9:g.71503804_71503810del, NC_000005.9:g.71503805_71503810del, NC_000005.9:g.71503806_71503810del, NC_000005.9:g.71503807_71503810del, NC_000005.9:g.71503808_71503810del, NC_000005.9:g.71503809_71503810del, NC_000005.9:g.71503810del, NC_000005.9:g.71503810dup, NC_000005.9:g.71503809_71503810dup, NC_000005.9:g.71503808_71503810dup, NC_000005.9:g.71503807_71503810dup, NC_000005.9:g.71503806_71503810dup, NC_000005.9:g.71503805_71503810dup, NC_000005.9:g.71503804_71503810dup, NC_000005.9:g.71503803_71503810dup, NC_000005.9:g.71503802_71503810dup, NC_000005.9:g.71503800_71503810dup, NC_000005.9:g.71503794_71503810dup, NC_000005.9:g.71503793_71503810dup, NC_000005.9:g.71503791_71503810dup, NM_005909.5:c.*2733_*2744del, NM_005909.5:c.*2734_*2744del, NM_005909.5:c.*2735_*2744del, NM_005909.5:c.*2736_*2744del, NM_005909.5:c.*2737_*2744del, NM_005909.5:c.*2738_*2744del, NM_005909.5:c.*2739_*2744del, NM_005909.5:c.*2740_*2744del, NM_005909.5:c.*2741_*2744del, NM_005909.5:c.*2742_*2744del, NM_005909.5:c.*2743_*2744del, NM_005909.5:c.*2744del, NM_005909.5:c.*2744dup, NM_005909.5:c.*2743_*2744dup, NM_005909.5:c.*2742_*2744dup, NM_005909.5:c.*2741_*2744dup, NM_005909.5:c.*2740_*2744dup, NM_005909.5:c.*2739_*2744dup, NM_005909.5:c.*2738_*2744dup, NM_005909.5:c.*2737_*2744dup, NM_005909.5:c.*2736_*2744dup, NM_005909.5:c.*2734_*2744dup, NM_005909.5:c.*2728_*2744dup, NM_005909.5:c.*2727_*2744dup, NM_005909.5:c.*2725_*2744dup, NM_005909.4:c.*2733_*2744del, NM_005909.4:c.*2734_*2744del, NM_005909.4:c.*2735_*2744del, NM_005909.4:c.*2736_*2744del, NM_005909.4:c.*2737_*2744del, NM_005909.4:c.*2738_*2744del, NM_005909.4:c.*2739_*2744del, NM_005909.4:c.*2740_*2744del, NM_005909.4:c.*2741_*2744del, NM_005909.4:c.*2742_*2744del, NM_005909.4:c.*2743_*2744del, NM_005909.4:c.*2744del, NM_005909.4:c.*2744dup, NM_005909.4:c.*2743_*2744dup, NM_005909.4:c.*2742_*2744dup, NM_005909.4:c.*2741_*2744dup, NM_005909.4:c.*2740_*2744dup, NM_005909.4:c.*2739_*2744dup, NM_005909.4:c.*2738_*2744dup, NM_005909.4:c.*2737_*2744dup, NM_005909.4:c.*2736_*2744dup, NM_005909.4:c.*2734_*2744dup, NM_005909.4:c.*2728_*2744dup, NM_005909.4:c.*2727_*2744dup, NM_005909.4:c.*2725_*2744dup, NM_005909.3:c.*2733_*2744del, NM_005909.3:c.*2734_*2744del, NM_005909.3:c.*2735_*2744del, NM_005909.3:c.*2736_*2744del, NM_005909.3:c.*2737_*2744del, NM_005909.3:c.*2738_*2744del, NM_005909.3:c.*2739_*2744del, NM_005909.3:c.*2740_*2744del, NM_005909.3:c.*2741_*2744del, NM_005909.3:c.*2742_*2744del, NM_005909.3:c.*2743_*2744del, NM_005909.3:c.*2744del, NM_005909.3:c.*2744dup, NM_005909.3:c.*2743_*2744dup, NM_005909.3:c.*2742_*2744dup, NM_005909.3:c.*2741_*2744dup, NM_005909.3:c.*2740_*2744dup, NM_005909.3:c.*2739_*2744dup, NM_005909.3:c.*2738_*2744dup, NM_005909.3:c.*2737_*2744dup, NM_005909.3:c.*2736_*2744dup, NM_005909.3:c.*2734_*2744dup, NM_005909.3:c.*2728_*2744dup, NM_005909.3:c.*2727_*2744dup, NM_005909.3:c.*2725_*2744dup, NM_001324255.2:c.*2733_*2744del, NM_001324255.2:c.*2734_*2744del, NM_001324255.2:c.*2735_*2744del, NM_001324255.2:c.*2736_*2744del, NM_001324255.2:c.*2737_*2744del, NM_001324255.2:c.*2738_*2744del, NM_001324255.2:c.*2739_*2744del, NM_001324255.2:c.*2740_*2744del, NM_001324255.2:c.*2741_*2744del, NM_001324255.2:c.*2742_*2744del, NM_001324255.2:c.*2743_*2744del, NM_001324255.2:c.*2744del, NM_001324255.2:c.*2744dup, NM_001324255.2:c.*2743_*2744dup, NM_001324255.2:c.*2742_*2744dup, NM_001324255.2:c.*2741_*2744dup, NM_001324255.2:c.*2740_*2744dup, NM_001324255.2:c.*2739_*2744dup, NM_001324255.2:c.*2738_*2744dup, NM_001324255.2:c.*2737_*2744dup, NM_001324255.2:c.*2736_*2744dup, NM_001324255.2:c.*2734_*2744dup, NM_001324255.2:c.*2728_*2744dup, NM_001324255.2:c.*2727_*2744dup, NM_001324255.2:c.*2725_*2744dup, NM_001324255.1:c.*2733_*2744del, NM_001324255.1:c.*2734_*2744del, NM_001324255.1:c.*2735_*2744del, NM_001324255.1:c.*2736_*2744del, NM_001324255.1:c.*2737_*2744del, NM_001324255.1:c.*2738_*2744del, NM_001324255.1:c.*2739_*2744del, NM_001324255.1:c.*2740_*2744del, NM_001324255.1:c.*2741_*2744del, NM_001324255.1:c.*2742_*2744del, NM_001324255.1:c.*2743_*2744del, NM_001324255.1:c.*2744del, NM_001324255.1:c.*2744dup, NM_001324255.1:c.*2743_*2744dup, NM_001324255.1:c.*2742_*2744dup, NM_001324255.1:c.*2741_*2744dup, NM_001324255.1:c.*2740_*2744dup, NM_001324255.1:c.*2739_*2744dup, NM_001324255.1:c.*2738_*2744dup, NM_001324255.1:c.*2737_*2744dup, NM_001324255.1:c.*2736_*2744dup, NM_001324255.1:c.*2734_*2744dup, NM_001324255.1:c.*2728_*2744dup, NM_001324255.1:c.*2727_*2744dup, NM_001324255.1:c.*2725_*2744dup
                            14.

                            rs1491190546 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TG>- [Show Flanks]
                              Chromosome:
                              5:72193360 (GRCh38)
                              5:71489187 (GRCh37)
                              Canonical SPDI:
                              NC_000005.10:72193359:TG:
                              Gene:
                              MAP1B (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              -=0./0 (ALFA)
                              HGVS:
                              15.

                              rs1491141638 [Homo sapiens]
                                Variant type:
                                SNV:
                                Alleles:
                                TT>-
                                Chromosome:
                                no mapping
                                Canonical SPDI:
                                17.

                                rs1491086594 has merged into rs768474986 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  TG>-,TGTG [Show Flanks]
                                  Chromosome:
                                  5:72143078 (GRCh38)
                                  5:71438905 (GRCh37)
                                  Canonical SPDI:
                                  NC_000005.10:72143067:TGTGTGTGTGTG:TGTGTGTGTG,NC_000005.10:72143067:TGTGTGTGTGTG:TGTGTGTGTGTGTG
                                  Gene:
                                  MAP1B (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  TGTGTGTGTGTGTG=0./0 (ALFA)
                                  -=0.000021/3 (GnomAD)
                                  HGVS:
                                  18.

                                  rs1491085166 [Homo sapiens]
                                    Variant type:
                                    DEL
                                    Alleles:
                                    TG>- [Show Flanks]
                                    Chromosome:
                                    5:72182044 (GRCh38)
                                    5:71477871 (GRCh37)
                                    Canonical SPDI:
                                    NC_000005.10:72182043:TG:
                                    Gene:
                                    MAP1B (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    -=0.016776/199 (ALFA)
                                    -=0.000886/25 (TOMMO)
                                    -=0.002024/213 (GnomAD)
                                    HGVS:
                                    19.

                                    rs1490975239 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      5:72118285 (GRCh38)
                                      5:71414112 (GRCh37)
                                      Canonical SPDI:
                                      NC_000005.10:72118284:A:G
                                      Gene:
                                      MAP1B (Varview)
                                      Functional Consequence:
                                      genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      G=0.000015/4 (TOPMED)
                                      HGVS:
                                      20.

                                      rs1490964975 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        5:72162067 (GRCh38)
                                        5:71457894 (GRCh37)
                                        Canonical SPDI:
                                        NC_000005.10:72162066:G:A
                                        Gene:
                                        MAP1B (Varview)
                                        Functional Consequence:
                                        genic_upstream_transcript_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:

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