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1.

rs1491576973 has merged into rs960627621 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
    Chromosome:
    2:127266721 (GRCh38)
    2:128024297 (GRCh37)
    Canonical SPDI:
    NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127266709:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
    Gene:
    ERCC3 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    TTTTTTTTTTT=0./0 (ALFA)
    -=0.000155/41 (TOPMED)
    HGVS:
    NC_000002.12:g.127266721_127266733del, NC_000002.12:g.127266722_127266733del, NC_000002.12:g.127266723_127266733del, NC_000002.12:g.127266724_127266733del, NC_000002.12:g.127266725_127266733del, NC_000002.12:g.127266726_127266733del, NC_000002.12:g.127266727_127266733del, NC_000002.12:g.127266728_127266733del, NC_000002.12:g.127266729_127266733del, NC_000002.12:g.127266730_127266733del, NC_000002.12:g.127266731_127266733del, NC_000002.12:g.127266732_127266733del, NC_000002.12:g.127266733del, NC_000002.12:g.127266733dup, NC_000002.12:g.127266732_127266733dup, NC_000002.12:g.127266731_127266733dup, NC_000002.12:g.127266730_127266733dup, NC_000002.12:g.127266729_127266733dup, NC_000002.12:g.127266728_127266733dup, NC_000002.12:g.127266727_127266733dup, NC_000002.12:g.127266726_127266733dup, NC_000002.12:g.127266725_127266733dup, NC_000002.12:g.127266724_127266733dup, NC_000002.12:g.127266723_127266733dup, NC_000002.12:g.127266722_127266733dup, NC_000002.12:g.127266721_127266733dup, NC_000002.12:g.127266720_127266733dup, NC_000002.12:g.127266719_127266733dup, NC_000002.12:g.127266718_127266733dup, NC_000002.12:g.127266717_127266733dup, NC_000002.12:g.127266733_127266734insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.127266733_127266734insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.128024297_128024309del, NC_000002.11:g.128024298_128024309del, NC_000002.11:g.128024299_128024309del, NC_000002.11:g.128024300_128024309del, NC_000002.11:g.128024301_128024309del, NC_000002.11:g.128024302_128024309del, NC_000002.11:g.128024303_128024309del, NC_000002.11:g.128024304_128024309del, NC_000002.11:g.128024305_128024309del, NC_000002.11:g.128024306_128024309del, NC_000002.11:g.128024307_128024309del, NC_000002.11:g.128024308_128024309del, NC_000002.11:g.128024309del, NC_000002.11:g.128024309dup, NC_000002.11:g.128024308_128024309dup, NC_000002.11:g.128024307_128024309dup, NC_000002.11:g.128024306_128024309dup, NC_000002.11:g.128024305_128024309dup, NC_000002.11:g.128024304_128024309dup, NC_000002.11:g.128024303_128024309dup, NC_000002.11:g.128024302_128024309dup, NC_000002.11:g.128024301_128024309dup, NC_000002.11:g.128024300_128024309dup, NC_000002.11:g.128024299_128024309dup, NC_000002.11:g.128024298_128024309dup, NC_000002.11:g.128024297_128024309dup, NC_000002.11:g.128024296_128024309dup, NC_000002.11:g.128024295_128024309dup, NC_000002.11:g.128024294_128024309dup, NC_000002.11:g.128024293_128024309dup, NC_000002.11:g.128024309_128024310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.128024309_128024310insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007454.1:g.32455_32467del, NG_007454.1:g.32456_32467del, NG_007454.1:g.32457_32467del, NG_007454.1:g.32458_32467del, NG_007454.1:g.32459_32467del, NG_007454.1:g.32460_32467del, NG_007454.1:g.32461_32467del, NG_007454.1:g.32462_32467del, NG_007454.1:g.32463_32467del, NG_007454.1:g.32464_32467del, NG_007454.1:g.32465_32467del, NG_007454.1:g.32466_32467del, NG_007454.1:g.32467del, NG_007454.1:g.32467dup, NG_007454.1:g.32466_32467dup, NG_007454.1:g.32465_32467dup, NG_007454.1:g.32464_32467dup, NG_007454.1:g.32463_32467dup, NG_007454.1:g.32462_32467dup, NG_007454.1:g.32461_32467dup, NG_007454.1:g.32460_32467dup, NG_007454.1:g.32459_32467dup, NG_007454.1:g.32458_32467dup, NG_007454.1:g.32457_32467dup, NG_007454.1:g.32456_32467dup, NG_007454.1:g.32455_32467dup, NG_007454.1:g.32454_32467dup, NG_007454.1:g.32453_32467dup, NG_007454.1:g.32452_32467dup, NG_007454.1:g.32451_32467dup, NG_007454.1:g.32467_32468insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_007454.1:g.32467_32468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

    2.

    rs1491394015 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      TA>- [Show Flanks]
      Chromosome:
      2:127282735 (GRCh38)
      2:128040311 (GRCh37)
      Canonical SPDI:
      NC_000002.12:127282734:TA:
      Gene:
      ERCC3 (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:

      3.

      rs1491389255 has merged into rs59921131 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TTTTTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
        Chromosome:
        2:127272016 (GRCh38)
        2:128029592 (GRCh37)
        Canonical SPDI:
        NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:127272007:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
        Gene:
        ERCC3 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTT=0./0 (ALFA)
        HGVS:
        NC_000002.12:g.127272016_127272035del, NC_000002.12:g.127272018_127272035del, NC_000002.12:g.127272019_127272035del, NC_000002.12:g.127272020_127272035del, NC_000002.12:g.127272021_127272035del, NC_000002.12:g.127272022_127272035del, NC_000002.12:g.127272023_127272035del, NC_000002.12:g.127272024_127272035del, NC_000002.12:g.127272025_127272035del, NC_000002.12:g.127272026_127272035del, NC_000002.12:g.127272027_127272035del, NC_000002.12:g.127272028_127272035del, NC_000002.12:g.127272029_127272035del, NC_000002.12:g.127272030_127272035del, NC_000002.12:g.127272031_127272035del, NC_000002.12:g.127272032_127272035del, NC_000002.12:g.127272033_127272035del, NC_000002.12:g.127272034_127272035del, NC_000002.12:g.127272035del, NC_000002.12:g.127272035dup, NC_000002.12:g.127272034_127272035dup, NC_000002.12:g.127272033_127272035dup, NC_000002.12:g.127272032_127272035dup, NC_000002.12:g.127272031_127272035dup, NC_000002.12:g.127272030_127272035dup, NC_000002.12:g.127272029_127272035dup, NC_000002.12:g.127272028_127272035dup, NC_000002.11:g.128029592_128029611del, NC_000002.11:g.128029594_128029611del, NC_000002.11:g.128029595_128029611del, NC_000002.11:g.128029596_128029611del, NC_000002.11:g.128029597_128029611del, NC_000002.11:g.128029598_128029611del, NC_000002.11:g.128029599_128029611del, NC_000002.11:g.128029600_128029611del, NC_000002.11:g.128029601_128029611del, NC_000002.11:g.128029602_128029611del, NC_000002.11:g.128029603_128029611del, NC_000002.11:g.128029604_128029611del, NC_000002.11:g.128029605_128029611del, NC_000002.11:g.128029606_128029611del, NC_000002.11:g.128029607_128029611del, NC_000002.11:g.128029608_128029611del, NC_000002.11:g.128029609_128029611del, NC_000002.11:g.128029610_128029611del, NC_000002.11:g.128029611del, NC_000002.11:g.128029611dup, NC_000002.11:g.128029610_128029611dup, NC_000002.11:g.128029609_128029611dup, NC_000002.11:g.128029608_128029611dup, NC_000002.11:g.128029607_128029611dup, NC_000002.11:g.128029606_128029611dup, NC_000002.11:g.128029605_128029611dup, NC_000002.11:g.128029604_128029611dup, NG_007454.1:g.27150_27169del, NG_007454.1:g.27152_27169del, NG_007454.1:g.27153_27169del, NG_007454.1:g.27154_27169del, NG_007454.1:g.27155_27169del, NG_007454.1:g.27156_27169del, NG_007454.1:g.27157_27169del, NG_007454.1:g.27158_27169del, NG_007454.1:g.27159_27169del, NG_007454.1:g.27160_27169del, NG_007454.1:g.27161_27169del, NG_007454.1:g.27162_27169del, NG_007454.1:g.27163_27169del, NG_007454.1:g.27164_27169del, NG_007454.1:g.27165_27169del, NG_007454.1:g.27166_27169del, NG_007454.1:g.27167_27169del, NG_007454.1:g.27168_27169del, NG_007454.1:g.27169del, NG_007454.1:g.27169dup, NG_007454.1:g.27168_27169dup, NG_007454.1:g.27167_27169dup, NG_007454.1:g.27166_27169dup, NG_007454.1:g.27165_27169dup, NG_007454.1:g.27164_27169dup, NG_007454.1:g.27163_27169dup, NG_007454.1:g.27162_27169dup

        4.

        rs1491362833 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          ->AT [Show Flanks]
          Chromosome:
          2:127266710 (GRCh38)
          2:128024287 (GRCh37)
          Canonical SPDI:
          NC_000002.12:127266710:T:TAT
          Gene:
          ERCC3 (Varview)
          Functional Consequence:
          intron_variant
          Validated:
          by frequency,by alfa
          MAF:
          TAT=0./0 (ALFA)
          HGVS:

          5.

          rs1491318285 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->A [Show Flanks]
            Chromosome:
            2:127282735 (GRCh38)
            2:128040312 (GRCh37)
            Canonical SPDI:
            NC_000002.12:127282735:A:AA
            Gene:
            ERCC3 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            AA=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000007/1 (GnomAD)
            HGVS:

            6.

            rs1491251279 [Homo sapiens]
              Variant type:
              INS
              Alleles:
              ->C [Show Flanks]
              Chromosome:
              2:127272008 (GRCh38)
              2:128029585 (GRCh37)
              Canonical SPDI:
              NC_000002.12:127272008::C
              Gene:
              ERCC3 (Varview)
              Functional Consequence:
              intron_variant
              Validated:
              by frequency
              MAF:
              C=0.00005/1 (GnomAD)
              HGVS:

              7.

              rs1491236800 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                TA>- [Show Flanks]
                Chromosome:
                2:127279759 (GRCh38)
                2:128037335 (GRCh37)
                Canonical SPDI:
                NC_000002.12:127279758:TA:
                Gene:
                ERCC3 (Varview)
                Functional Consequence:
                intron_variant
                Validated:
                by frequency,by alfa
                MAF:
                -=0./0 (ALFA)
                -=0.000004/1 (TOPMED)
                HGVS:

                8.

                rs1491097923 has merged into rs11345447 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  AA>-,A,AAA,AAAA [Show Flanks]
                  Chromosome:
                  2:127271499 (GRCh38)
                  2:128029075 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:127271489:AAAAAAAAAAA:AAAAAAAAA,NC_000002.12:127271489:AAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:127271489:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:127271489:AAAAAAAAAAA:AAAAAAAAAAAAA
                  Gene:
                  ERCC3 (Varview)
                  Functional Consequence:
                  intron_variant
                  Clinical significance:
                  benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  AAAAAAAAAAAAA=0.000462/10 (ALFA)
                  -=0.245/147 (NorthernSweden)
                  -=0.276553/276 (GoNL)
                  -=0.283861/1094 (ALSPAC)
                  -=0.28479/1056 (TWINSUK)
                  -=0.288118/76262 (TOPMED)
                  -=0.35/14 (GENOME_DK)
                  -=0.358533/1769 (1000Genomes)
                  HGVS:

                  9.

                  rs1491059148 has merged into rs35860687 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
                    Chromosome:
                    2:127295838 (GRCh38)
                    2:128053414 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:127295824:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
                    Gene:
                    ERCC3 (Varview)
                    Functional Consequence:
                    upstream_transcript_variant,2KB_upstream_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    AAAAAAAAAAAAAA=0./0 (ALFA)
                    HGVS:
                    NC_000002.12:g.127295838_127295844del, NC_000002.12:g.127295839_127295844del, NC_000002.12:g.127295840_127295844del, NC_000002.12:g.127295841_127295844del, NC_000002.12:g.127295842_127295844del, NC_000002.12:g.127295843_127295844del, NC_000002.12:g.127295844del, NC_000002.12:g.127295844dup, NC_000002.12:g.127295843_127295844dup, NC_000002.12:g.127295842_127295844dup, NC_000002.12:g.127295841_127295844dup, NC_000002.12:g.127295840_127295844dup, NC_000002.12:g.127295839_127295844dup, NC_000002.11:g.128053414_128053420del, NC_000002.11:g.128053415_128053420del, NC_000002.11:g.128053416_128053420del, NC_000002.11:g.128053417_128053420del, NC_000002.11:g.128053418_128053420del, NC_000002.11:g.128053419_128053420del, NC_000002.11:g.128053420del, NC_000002.11:g.128053420dup, NC_000002.11:g.128053419_128053420dup, NC_000002.11:g.128053418_128053420dup, NC_000002.11:g.128053417_128053420dup, NC_000002.11:g.128053416_128053420dup, NC_000002.11:g.128053415_128053420dup, NG_007454.1:g.3346_3352del, NG_007454.1:g.3347_3352del, NG_007454.1:g.3348_3352del, NG_007454.1:g.3349_3352del, NG_007454.1:g.3350_3352del, NG_007454.1:g.3351_3352del, NG_007454.1:g.3352del, NG_007454.1:g.3352dup, NG_007454.1:g.3351_3352dup, NG_007454.1:g.3350_3352dup, NG_007454.1:g.3349_3352dup, NG_007454.1:g.3348_3352dup, NG_007454.1:g.3347_3352dup

                    10.

                    rs1490996200 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:127283031 (GRCh38)
                      2:128040607 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:127283030:G:A
                      Gene:
                      ERCC3 (Varview)
                      Functional Consequence:
                      intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:

                      11.

                      rs1490981569 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A,T [Show Flanks]
                        Chromosome:
                        2:127295822 (GRCh38)
                        2:128053398 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:127295821:C:A,NC_000002.12:127295821:C:T
                        Gene:
                        ERCC3 (Varview)
                        Functional Consequence:
                        upstream_transcript_variant,2KB_upstream_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.00007/6 (GnomAD)
                        A=0.00116/32 (TOMMO)
                        HGVS:

                        12.

                        rs1490981350 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          2:127281903 (GRCh38)
                          2:128039479 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:127281902:A:G
                          Gene:
                          ERCC3 (Varview)
                          Functional Consequence:
                          intron_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:

                          13.

                          rs1490958354 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            2:127267297 (GRCh38)
                            2:128024873 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:127267296:A:T
                            Gene:
                            ERCC3 (Varview)
                            Functional Consequence:
                            intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1490907221 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              2:127260495 (GRCh38)
                              2:128018071 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:127260494:T:C
                              Gene:
                              ERCC3 (Varview)
                              Functional Consequence:
                              intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000014/2 (GnomAD)
                              HGVS:

                              15.

                              rs1490871745 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:127263086 (GRCh38)
                                2:128020662 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:127263085:A:G
                                Gene:
                                ERCC3 (Varview)
                                Functional Consequence:
                                intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                G=0.000011/3 (TOPMED)
                                G=0.000014/2 (GnomAD)
                                HGVS:

                                16.

                                rs1490561641 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  2:127280921 (GRCh38)
                                  2:128038497 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:127280920:G:C
                                  Gene:
                                  ERCC3 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000029/4 (GnomAD)
                                  HGVS:

                                  17.

                                  rs1490384601 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    2:127264106 (GRCh38)
                                    2:128021682 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:127264105:G:C
                                    Gene:
                                    ERCC3 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000007/1 (GnomAD)
                                    HGVS:

                                    18.

                                    rs1490252432 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      2:127266318 (GRCh38)
                                      2:128023894 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:127266317:T:C
                                      Gene:
                                      ERCC3 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0./0 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1490030471 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        2:127282549 (GRCh38)
                                        2:128040125 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:127282548:A:G
                                        Gene:
                                        ERCC3 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0.000071/1 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        G=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1489909635 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:127274466 (GRCh38)
                                          2:128032042 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:127274465:G:A
                                          Gene:
                                          ERCC3 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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